NM_152564.5(VPS13B):c.9331-2A>T
|
rs74485751
|
0.06492
|
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala)
|
rs36117895
|
0.03931
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000391.4(TPP1):c.381-10dup
|
rs146315473
|
0.02726
|
NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys)
|
rs76187047
|
0.01292
|
NM_001382273.1(TNK2):c.2675G>A (p.Arg892His)
|
rs112384084
|
0.01127
|
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr)
|
rs151268759
|
0.00419
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_000156.6(GAMT):c.79T>C (p.Tyr27His)
|
rs200833152
|
0.00345
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_004977.3(KCNC3):c.1771A>G (p.Ser591Gly)
|
rs549394447
|
0.00331
|
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln)
|
rs34324426
|
0.00294
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)
|
rs75442795
|
0.00172
|
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)
|
rs200473652
|
0.00163
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile)
|
rs149051060
|
0.00145
|
NM_152268.4(PARS2):c.1091C>G (p.Pro364Arg)
|
rs35201073
|
0.00128
|
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn)
|
rs140179844
|
0.00117
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_000961.4(PTGIS):c.824G>A (p.Arg275Gln)
|
rs61734270
|
0.00098
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_001146312.3(MYOCD):c.1252A>G (p.Ile418Val)
|
rs137939966
|
0.00086
|
NM_017553.3(INO80):c.3737G>A (p.Arg1246Gln)
|
rs199722402
|
0.00086
|
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser)
|
rs142269885
|
0.00083
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter)
|
rs150259543
|
0.00073
|
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)
|
rs146579299
|
0.00068
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp)
|
rs145843073
|
0.00063
|
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile)
|
rs140280672
|
0.00061
|
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs)
|
rs750693623
|
0.00057
|
NM_001123385.2(BCOR):c.2035G>A (p.Val679Ile)
|
rs144722432
|
0.00053
|
NM_003805.5(CRADD):c.509G>A (p.Arg170His)
|
rs141179774
|
0.00053
|
NM_152564.5(VPS13B):c.5803T>G (p.Ser1935Ala)
|
rs138930771
|
0.00053
|
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)
|
rs121917814
|
0.00049
|
NM_001370259.2(MEN1):c.*470A>G
|
rs778272737
|
0.00048
|
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln)
|
rs137852682
|
0.00047
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)
|
rs149196615
|
0.00044
|
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr)
|
rs41298474
|
0.00038
|
NM_000170.3(GLDC):c.2852C>A (p.Ser951Tyr)
|
rs147472391
|
0.00036
|
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val)
|
rs200789563
|
0.00036
|
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln)
|
rs200792658
|
0.00036
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_018075.5(ANO10):c.1843G>A (p.Asp615Asn)
|
rs138000380
|
0.00035
|
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter)
|
rs17847577
|
0.00033
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter)
|
rs115209243
|
0.00031
|
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)
|
rs149653983
|
0.00029
|
NM_015275.3(WASHC4):c.1508A>G (p.His503Arg)
|
rs201428088
|
0.00029
|
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)
|
rs139332887
|
0.00028
|
NM_005957.5(MTHFR):c.673A>G (p.Ile225Val)
|
rs200100285
|
0.00028
|
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys)
|
rs80356540
|
0.00028
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_003793.4(CTSF):c.1046-2A>C
|
rs141915593
|
0.00025
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00024
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
NM_020361.5(CPA6):c.931C>T (p.Arg311Ter)
|
rs139145929
|
0.00023
|
NM_032656.4(DHX37):c.1399C>G (p.Leu467Val)
|
rs149331610
|
0.00022
|
NM_198578.4(LRRK2):c.3974G>A (p.Arg1325Gln)
|
rs72546338
|
0.00021
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)
|
rs374144275
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000170.3(GLDC):c.1691G>T (p.Ser564Ile)
|
rs121964974
|
0.00016
|
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln)
|
rs9332964
|
0.00016
|
NM_000466.3(PEX1):c.627G>A (p.Met209Ile)
|
rs200752969
|
0.00016
|
NM_001378969.1(KCND3):c.1646G>A (p.Arg549His)
|
rs35027371
|
0.00016
|
NM_018941.4(CLN8):c.806A>T (p.Glu269Val)
|
rs139003032
|
0.00016
|
NM_020247.5(COQ8A):c.1665G>A (p.Met555Ile)
|
rs199874519
|
0.00016
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_001349338.3(FOXP1):c.44C>T (p.Ala15Val)
|
rs532329866
|
0.00015
|
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro)
|
rs150802299
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_133443.4(GPT2):c.286G>A (p.Gly96Arg)
|
rs778445616
|
0.00014
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser)
|
rs139364109
|
0.00013
|
NM_004562.3(PRKN):c.1289G>A (p.Gly430Asp)
|
rs191486604
|
0.00013
|
NM_182961.4(SYNE1):c.226-2dup
|
rs774388631
|
0.00013
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
NM_017872.5(THG1L):c.164T>C (p.Val55Ala)
|
rs201920319
|
0.00012
|
NM_033629.6(TREX1):c.914A>G (p.Tyr305Cys)
|
rs370504038
|
0.00012
|
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)
|
rs774030578
|
0.00011
|
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)
|
rs587779406
|
0.00011
|
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His)
|
rs587778778
|
0.00011
|
NM_001080397.3(SLC45A1):c.629C>T (p.Ala210Val)
|
rs150539474
|
0.00011
|
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys)
|
rs759799287
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_005957.5(MTHFR):c.459C>G (p.Ile153Met)
|
rs767890671
|
0.00011
|
NM_006946.4(SPTBN2):c.7109G>A (p.Arg2370His)
|
rs145522851
|
0.00011
|
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn)
|
rs372359781
|
0.00011
|
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter)
|
rs144744629
|
0.00011
|
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)
|
rs373479905
|
0.00011
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
NM_000370.3(TTPA):c.575G>A (p.Arg192His)
|
rs121917850
|
0.00010
|
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp)
|
rs201114717
|
0.00010
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_006261.5(PROP1):c.349T>A (p.Phe117Ile)
|
rs121917840
|
0.00010
|
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs)
|
rs766372684
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_198994.3(TGM6):c.1024C>T (p.Arg342Trp)
|
rs150566697
|
0.00010
|
NM_000170.3(GLDC):c.2215C>T (p.Arg739Cys)
|
rs148775220
|
0.00009
|
NM_000170.3(GLDC):c.2607C>A (p.Pro869=)
|
rs386833565
|
0.00009
|
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)
|
rs976185636
|
0.00009
|
NM_001382391.1(CSPP1):c.2128+1G>A
|
rs199791452
|
0.00009
|
NM_002979.5(SCP2):c.825+1G>T
|
rs144132787
|
0.00009
|
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)
|
rs121908686
|
0.00009
|
NM_005120.3(MED12):c.1849A>G (p.Thr617Ala)
|
rs765417606
|
0.00009
|
NM_006618.5(KDM5B):c.2474+1G>A
|
rs542983923
|
0.00009
|
NM_006651.4(CPLX1):c.382C>A (p.Leu128Met)
|
rs371709824
|
0.00009
|
NM_022089.4(ATP13A2):c.477+2T>G
|
rs758014228
|
0.00009
|
NM_022124.6(CDH23):c.1205C>T (p.Pro402Leu)
|
rs373168635
|
0.00009
|
NM_025114.4(CEP290):c.4437+1G>A
|
rs760915898
|
0.00009
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_002693.3(POLG):c.2642C>T (p.Pro881Leu)
|
rs375935084
|
0.00008
|
NM_004525.3(LRP2):c.11335G>A (p.Asp3779Asn)
|
rs199583537
|
0.00008
|
NM_004562.3(PRKN):c.2T>C (p.Met1Thr)
|
rs771586218
|
0.00008
|
NM_007262.5(PARK7):c.83G>A (p.Arg28Gln)
|
rs142405016
|
0.00008
|
NM_018294.6(CWF19L1):c.665G>A (p.Arg222Gln)
|
rs772697259
|
0.00008
|
NM_019023.5(PRMT7):c.1056-1G>T
|
rs201824659
|
0.00008
|
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)
|
rs267606941
|
0.00008
|
NM_025243.4(SLC19A3):c.980-14A>G
|
rs200542114
|
0.00008
|
NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)
|
rs144539572
|
0.00008
|
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)
|
rs146525143
|
0.00007
|
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu)
|
rs587776906
|
0.00007
|
NM_001378778.1(MPDZ):c.394G>A (p.Gly132Ser)
|
rs201101621
|
0.00007
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln)
|
rs149595793
|
0.00007
|
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)
|
rs765632065
|
0.00007
|
NM_138383.3(MTSS2):c.1790C>T (p.Thr597Met)
|
rs531163149
|
0.00007
|
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)
|
rs180177180
|
0.00006
|
NM_000030.3(AGXT):c.698G>A (p.Arg233His)
|
rs121908527
|
0.00006
|
NM_000033.4(ABCD1):c.2087A>T (p.Lys696Met)
|
rs782157913
|
0.00006
|
NM_000098.3(CPT2):c.200C>G (p.Ala67Gly)
|
rs201966320
|
0.00006
|
NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)
|
rs121918528
|
0.00006
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
NM_000170.3(GLDC):c.2216G>A (p.Arg739His)
|
rs121964980
|
0.00006
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000466.3(PEX1):c.2926+1G>A
|
rs267608179
|
0.00006
|
NM_000481.4(AMT):c.230C>T (p.Ser77Leu)
|
rs386833680
|
0.00006
|
NM_000484.4(APP):c.2137G>A (p.Ala713Thr)
|
rs63750066
|
0.00006
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
NM_001080.3(ALDH5A1):c.1211C>G (p.Ala404Gly)
|
rs139719918
|
0.00006
|
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)
|
rs374434303
|
0.00006
|
NM_001182.5(ALDH7A1):c.365G>C (p.Arg122Pro)
|
rs796052256
|
0.00006
|
NM_001182.5(ALDH7A1):c.529G>C (p.Ala177Pro)
|
rs140102105
|
0.00006
|
NM_002693.3(POLG):c.3287G>A (p.Arg1096His)
|
rs368435864
|
0.00006
|
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)
|
rs753416225
|
0.00006
|
NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)
|
rs775162839
|
0.00006
|
NM_004204.5(PIGQ):c.942+1G>A
|
rs200661329
|
0.00006
|
NM_004562.3(PRKN):c.98G>A (p.Arg33Gln)
|
rs147757966
|
0.00006
|
NM_004855.5(PIGB):c.463G>C (p.Asp155His)
|
rs372158001
|
0.00006
|
NM_006059.4(LAMC3):c.3871C>T (p.Arg1291Ter)
|
rs201793200
|
0.00006
|
NM_007198.4(PLPBP):c.260C>T (p.Pro87Leu)
|
rs755946598
|
0.00006
|
NM_014026.6(DCPS):c.947C>T (p.Thr316Met)
|
rs137941190
|
0.00006
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser)
|
rs121908345
|
0.00006
|
NM_016023.5(OTUD6B):c.686T>C (p.Leu229Pro)
|
rs150848976
|
0.00006
|
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)
|
rs747229909
|
0.00006
|
NM_018129.4(PNPO):c.500T>C (p.Ile167Thr)
|
rs546737191
|
0.00006
|
NM_018206.6(VPS35):c.2320C>A (p.Leu774Met)
|
rs192419029
|
0.00006
|
NM_022124.6(CDH23):c.6050-15G>A
|
rs373838930
|
0.00006
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
NM_022464.5(SIL1):c.1030-9G>A
|
rs370290043
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_025114.4(CEP290):c.6645+1G>A
|
rs201218801
|
0.00006
|
NM_152296.5(ATP1A3):c.191G>A (p.Arg64Gln)
|
rs201573515
|
0.00006
|
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter)
|
rs146960401
|
0.00006
|
NM_152743.4(BRAT1):c.283-2A>T
|
rs147005619
|
0.00006
|
NM_000030.3(AGXT):c.353G>A (p.Arg118His)
|
rs138025751
|
0.00005
|
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)
|
rs121908526
|
0.00005
|
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)
|
rs782635828
|
0.00005
|
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)
|
rs80338734
|
0.00005
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)
|
rs119455954
|
0.00005
|
NM_000466.3(PEX1):c.2383C>T (p.Arg795Ter)
|
rs61750418
|
0.00005
|
NM_000520.6(HEXA):c.460-1G>T
|
rs764343937
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp)
|
rs61733615
|
0.00005
|
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)
|
rs151247980
|
0.00005
|
NM_001044385.3(TMEM237):c.42+1G>A
|
rs1378726802
|
0.00005
|
NM_001077350.3(NPRL3):c.1162-2A>G
|
rs756257487
|
0.00005
|
NM_001103146.3(GIGYF2):c.2378C>T (p.Ala793Val)
|
rs748538823
|
0.00005
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
NM_001349338.3(FOXP1):c.179A>G (p.Gln60Arg)
|
rs374060287
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_002618.4(PEX13):c.880C>T (p.Arg294Trp)
|
rs373118250
|
0.00005
|
NM_002693.3(POLG):c.3104+1G>A
|
rs138917386
|
0.00005
|
NM_004562.3(PRKN):c.1321T>C (p.Cys441Arg)
|
rs778305273
|
0.00005
|
NM_006261.5(PROP1):c.358C>T (p.Arg120Cys)
|
rs121917839
|
0.00005
|
NM_006765.4(TUSC3):c.714A>G (p.Ile238Met)
|
rs773936260
|
0.00005
|
NM_007254.4(PNKP):c.968C>T (p.Thr323Met)
|
rs372148913
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_018129.4(PNPO):c.413G>A (p.Arg138His)
|
rs764940495
|
0.00005
|
NM_020247.5(COQ8A):c.1000C>T (p.Arg334Trp)
|
rs373971613
|
0.00005
|
NM_020247.5(COQ8A):c.1532C>T (p.Thr511Met)
|
rs578189699
|
0.00005
|
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro)
|
rs1468772495
|
0.00005
|
NM_022089.4(ATP13A2):c.943G>A (p.Gly315Arg)
|
rs150519745
|
0.00005
|
NM_032756.4(HPDL):c.1013T>C (p.Leu338Pro)
|
rs145372387
|
0.00005
|
NM_152268.4(PARS2):c.283G>A (p.Val95Ile)
|
rs147227819
|
0.00005
|
NM_153033.5(KCTD7):c.190A>G (p.Thr64Ala)
|
rs201296399
|
0.00005
|
NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)
|
rs180177239
|
0.00004
|
NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)
|
rs121908520
|
0.00004
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
NM_000157.4(GBA1):c.928A>G (p.Ser310Gly)
|
rs1057942
|
0.00004
|
NM_000170.3(GLDC):c.2281G>A (p.Gly761Arg)
|
rs386833549
|
0.00004
|
NM_000170.3(GLDC):c.2311G>A (p.Gly771Arg)
|
rs386833553
|
0.00004
|
NM_000170.3(GLDC):c.2489C>T (p.Thr830Met)
|
rs386833560
|
0.00004
|
NM_000287.4(PEX6):c.2663G>A (p.Arg888His)
|
rs267608247
|
0.00004
|
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter)
|
rs61753245
|
0.00004
|
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)
|
rs121917851
|
0.00004
|
NM_000391.4(TPP1):c.225A>G (p.Gln75=)
|
rs368709098
|
0.00004
|
NM_000391.4(TPP1):c.889C>T (p.Arg297Trp)
|
rs553122824
|
0.00004
|
NM_000466.3(PEX1):c.2846G>A (p.Arg949Gln)
|
rs61750425
|
0.00004
|
NM_000481.4(AMT):c.280C>T (p.Arg94Trp)
|
rs1126422
|
0.00004
|
NM_000481.4(AMT):c.959G>A (p.Arg320His)
|
rs121964985
|
0.00004
|
NM_000520.6(HEXA):c.986+3A>G
|
rs200926928
|
0.00004
|
NM_000521.4(HEXB):c.1082+5G>A
|
rs5030731
|
0.00004
|
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)
|
rs121907985
|
0.00004
|
NM_000784.4(CYP27A1):c.410G>A (p.Arg137Gln)
|
rs587778818
|
0.00004
|
NM_001042432.2(CLN3):c.988G>A (p.Val330Ile)
|
rs386833744
|
0.00004
|
NM_001077418.3(TMEM231):c.438+5G>C
|
rs1472951348
|
0.00004
|
NM_001082538.3(TCTN1):c.712+1G>A
|
rs200863258
|
0.00004
|
NM_001110792.2(MECP2):c.915C>G (p.Ile305Met)
|
rs587783140
|
0.00004
|
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys)
|
rs561343926
|
0.00004
|
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp)
|
rs370624118
|
0.00004
|
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)
|
rs201948406
|
0.00004
|
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His)
|
rs545689324
|
0.00004
|
NM_001244008.2(KIF1A):c.223C>T (p.Arg75Trp)
|
rs778224699
|
0.00004
|
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)
|
rs112735431
|
0.00004
|
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)
|
rs138125282
|
0.00004
|
NM_001352514.2(HLCS):c.2260dup (p.Ser754fs)
|
rs766163167
|
0.00004
|
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)
|
rs146448211
|
0.00004
|
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp)
|
rs202152511
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_001374828.1(ARID1B):c.5851G>A (p.Glu1951Lys)
|
rs1451259945
|
0.00004
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)
|
rs796052407
|
0.00004
|
NM_002693.3(POLG):c.2264A>C (p.Lys755Thr)
|
rs770438363
|
0.00004
|
NM_002693.3(POLG):c.428C>T (p.Ala143Val)
|
rs796052899
|
0.00004
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_002739.5(PRKCG):c.1381G>A (p.Ala461Thr)
|
rs749266717
|
0.00004
|
NM_003359.4(UGDH):c.131C>T (p.Ala44Val)
|
rs749975104
|
0.00004
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
0.00004
|
NM_003640.5(ELP1):c.3592C>T (p.Arg1198Ter)
|
rs376078668
|
0.00004
|
NM_003865.3(HESX1):c.475C>T (p.Arg159Trp)
|
rs770886420
|
0.00004
|
NM_004287.5(GOSR2):c.204-7A>G
|
rs746177544
|
0.00004
|
NM_005957.5(MTHFR):c.1320G>A (p.Ser440=)
|
rs367585605
|
0.00004
|
NM_006214.4(PHYH):c.497-2A>G
|
rs144169488
|
0.00004
|
NM_006214.4(PHYH):c.530A>G (p.Asp177Gly)
|
rs770262329
|
0.00004
|
NM_006261.5(PROP1):c.359G>A (p.Arg120His)
|
rs769171020
|
0.00004
|
NM_006793.5(PRDX3):c.43C>T (p.Arg15Ter)
|
rs371560438
|
0.00004
|
NM_006946.4(SPTBN2):c.4444C>T (p.Arg1482Trp)
|
rs373270554
|
0.00004
|
NM_007254.4(PNKP):c.636+1G>T
|
rs1247055716
|
0.00004
|
NM_007262.5(PARK7):c.471_473del (p.Pro158del)
|
rs764877312
|
0.00004
|
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr)
|
rs1468358104
|
0.00004
|
NM_014363.6(SACS):c.2439_2440del (p.Val815fs)
|
rs775059063
|
0.00004
|
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs)
|
rs776470487
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter)
|
rs751128300
|
0.00004
|
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter)
|
rs1277577195
|
0.00004
|
NM_016373.4(WWOX):c.173-6T>G
|
rs200812468
|
0.00004
|
NM_016373.4(WWOX):c.410G>A (p.Gly137Glu)
|
rs761879076
|
0.00004
|
NM_017553.3(INO80):c.1501T>C (p.Ser501Pro)
|
rs730882226
|
0.00004
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_018294.6(CWF19L1):c.349G>T (p.Glu117Ter)
|
rs201230582
|
0.00004
|
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)
|
rs144495588
|
0.00004
|
NM_018941.4(CLN8):c.661G>A (p.Gly221Ser)
|
rs386834136
|
0.00004
|
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys)
|
rs145034527
|
0.00004
|
NM_024818.6(UBA5):c.215G>A (p.Arg72His)
|
rs150313260
|
0.00004
|
NM_024989.4(PGAP1):c.2042del (p.Leu681fs)
|
rs756609752
|
0.00004
|
NM_025243.4(SLC19A3):c.337T>C (p.Tyr113His)
|
rs145999922
|
0.00004
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
NM_032316.3(NICN1):c.*2328C>T
|
rs386833677
|
0.00004
|
NM_032656.4(DHX37):c.278G>A (p.Arg93Gln)
|
rs575837056
|
0.00004
|
NM_152296.5(ATP1A3):c.2885C>A (p.Pro962His)
|
rs145179304
|
0.00004
|
NM_152564.5(VPS13B):c.4396G>T (p.Glu1466Ter)
|
rs120074151
|
0.00004
|
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)
|
rs768633670
|
0.00004
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
NM_172107.4(KCNQ2):c.1887+5G>A
|
rs777916008
|
0.00004
|
NM_174905.4(FAM98C):c.844C>T (p.Arg282Ter)
|
rs201037487
|
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_000030.3(AGXT):c.481G>T (p.Gly161Cys)
|
rs180177227
|
0.00003
|
NM_000030.3(AGXT):c.847-3C>G
|
rs180177286
|
0.00003
|
NM_000108.5(DLD):c.1081A>G (p.Met361Val)
|
rs121964993
|
0.00003
|
NM_000153.4(GALC):c.850G>A (p.Gly284Ser)
|
rs377274761
|
0.00003
|
NM_000156.6(GAMT):c.481A>T (p.Lys161Ter)
|
rs1057524499
|
0.00003
|
NM_000157.4(GBA1):c.637C>T (p.Leu213Phe)
|
rs374591570
|
0.00003
|
NM_000157.4(GBA1):c.667T>C (p.Trp223Arg)
|
rs61748906
|
0.00003
|
NM_000157.4(GBA1):c.762-1G>C
|
rs1237637353
|
0.00003
|
NM_000170.3(GLDC):c.1009C>T (p.Arg337Ter)
|
rs386833517
|
0.00003
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
NM_000170.3(GLDC):c.2665+1G>C
|
rs149070244
|
0.00003
|
NM_000170.3(GLDC):c.2714T>G (p.Val905Gly)
|
rs188269735
|
0.00003
|
NM_000170.3(GLDC):c.911C>T (p.Pro304Leu)
|
rs1207147043
|
0.00003
|
NM_000287.4(PEX6):c.2735C>T (p.Ala912Val)
|
rs62641232
|
0.00003
|
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)
|
rs61753219
|
0.00003
|
NM_000288.4(PEX7):c.116A>C (p.His39Pro)
|
rs61753237
|
0.00003
|
NM_000288.4(PEX7):c.653C>T (p.Ala218Val)
|
rs121909151
|
0.00003
|
NM_000311.5(PRNP):c.538G>A (p.Val180Ile)
|
rs74315408
|
0.00003
|
NM_000311.5(PRNP):c.635A>C (p.Gln212Pro)
|
rs751882709
|
0.00003
|
NM_000312.4(PROC):c.226G>A (p.Val76Met)
|
rs121918149
|
0.00003
|
NM_000414.4(HSD17B4):c.743G>A (p.Arg248His)
|
rs748057401
|
0.00003
|
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)
|
rs61750427
|
0.00003
|
NM_000481.4(AMT):c.217C>T (p.Arg73Cys)
|
rs386833679
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000484.4(APP):c.2125G>A (p.Gly709Ser)
|
rs201269325
|
0.00003
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
NM_000702.4(ATP1A2):c.2563+2T>C
|
rs775008062
|
0.00003
|
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln)
|
rs376230356
|
0.00003
|
NM_001042432.2(CLN3):c.295-2A>C
|
rs1478660606
|
0.00003
|
NM_001059.3(TACR3):c.692C>T (p.Thr231Ile)
|
rs764659822
|
0.00003
|
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)
|
rs2808001
|
0.00003
|
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)
|
rs376555896
|
0.00003
|
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln)
|
rs121434351
|
0.00003
|
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter)
|
rs267607137
|
0.00003
|
NM_001165963.4(SCN1A):c.5510C>T (p.Pro1837Leu)
|
rs149225252
|
0.00003
|
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter)
|
rs755459875
|
0.00003
|
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter)
|
rs779260568
|
0.00003
|
NM_001182.5(ALDH7A1):c.1292C>T (p.Pro431Leu)
|
rs151107837
|
0.00003
|
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala)
|
rs777829351
|
0.00003
|
NM_001191061.2(SLC25A22):c.617C>T (p.Pro206Leu)
|
rs121918334
|
0.00003
|
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)
|
rs398122965
|
0.00003
|
NM_001329943.3(KIAA0586):c.411-1486G>A
|
rs982449380
|
0.00003
|
NM_001352514.2(HLCS):c.1960+5G>A
|
rs753887925
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter)
|
rs145577757
|
0.00003
|
NM_001370259.2(MEN1):c.*412G>A
|
rs972128957
|
0.00003
|
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
NM_001370658.1(BTD):c.1568A>T (p.Asp523Val)
|
rs1050035768
|
0.00003
|
NM_001370658.1(BTD):c.322T>G (p.Phe108Val)
|
rs397514355
|
0.00003
|
NM_001370658.1(BTD):c.535G>A (p.Val179Met)
|
rs397514375
|
0.00003
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_001372.4(DNAH9):c.5651G>C (p.Gly1884Ala)
|
rs577054880
|
0.00003
|
NM_001931.5(DLAT):c.976-1G>A
|
rs367875541
|
0.00003
|
NM_002617.4(PEX10):c.932G>A (p.Arg311Gln)
|
rs724160001
|
0.00003
|
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)
|
rs121918053
|
0.00003
|
NM_002693.3(POLG):c.3151G>A (p.Gly1051Arg)
|
rs121918049
|
0.00003
|
NM_002693.3(POLG):c.3286C>T (p.Arg1096Cys)
|
rs201732356
|
0.00003
|
NM_002693.3(POLG):c.3383G>A (p.Arg1128His)
|
rs1405268319
|
0.00003
|
NM_002693.3(POLG):c.3526T>C (p.Ser1176Pro)
|
rs763205408
|
0.00003
|
NM_002739.5(PRKCG):c.419G>A (p.Arg140Gln)
|
rs770016586
|
0.00003
|
NM_003172.4(SURF1):c.751+5G>A
|
rs781934508
|
0.00003
|
NM_003265.3(TLR3):c.2599C>T (p.Arg867Ter)
|
rs745646456
|
0.00003
|
NM_003384.3(VRK1):c.356A>G (p.His119Arg)
|
rs371295780
|
0.00003
|
NM_003477.2(PDHX):c.-197delT
|
rs1158194122
|
0.00003
|
NM_003560.4(PLA2G6):c.2239C>T (p.Arg747Trp)
|
rs121908687
|
0.00003
|
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)
|
rs926177767
|
0.00003
|
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe)
|
rs752452731
|
0.00003
|
NM_004082.5(DCTN1):c.73C>T (p.Arg25Trp)
|
rs756611519
|
0.00003
|
NM_004525.3(LRP2):c.13753C>T (p.Arg4585Ter)
|
rs202057289
|
0.00003
|
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter)
|
rs200053119
|
0.00003
|
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp)
|
rs1283838287
|
0.00003
|
NM_006859.4(LIAS):c.737+1G>A
|
rs546751789
|
0.00003
|
NM_007254.4(PNKP):c.1256T>A (p.Val419Asp)
|
rs748365843
|
0.00003
|
NM_014026.6(DCPS):c.454C>T (p.Arg152Ter)
|
rs904572688
|
0.00003
|
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
|
rs267606821
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_014875.3(KIF14):c.3661+1G>T
|
rs151249558
|
0.00003
|
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter)
|
rs1057519563
|
0.00003
|
NM_015272.5(RPGRIP1L):c.1244-1G>T
|
rs1306595038
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2874+1G>C
|
rs753075262
|
0.00003
|
NM_015275.3(WASHC4):c.3236A>G (p.Lys1079Arg)
|
rs748436953
|
0.00003
|
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)
|
rs761399728
|
0.00003
|
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp)
|
rs137853105
|
0.00003
|
NM_017882.3(CLN6):c.338C>T (p.Thr113Met)
|
rs758830997
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_018075.5(ANO10):c.139+1G>T
|
rs777450156
|
0.00003
|
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter)
|
rs776248931
|
0.00003
|
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)
|
rs773450573
|
0.00003
|
NM_018319.4(TDP1):c.910C>T (p.Arg304Ter)
|
rs370121773
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_020247.5(COQ8A):c.638G>A (p.Arg213Gln)
|
rs767584322
|
0.00003
|
NM_020374.4(C12orf4):c.1078C>T (p.Arg360Ter)
|
rs374645146
|
0.00003
|
NM_022089.4(ATP13A2):c.1205C>T (p.Thr402Met)
|
rs763632781
|
0.00003
|
NM_022124.6(CDH23):c.8920G>T (p.Glu2974Ter)
|
rs1344509500
|
0.00003
|
NM_032119.4(ADGRV1):c.13919G>A (p.Gly4640Glu)
|
rs727504706
|
0.00003
|
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp)
|
rs760521217
|
0.00003
|
NM_152564.5(VPS13B):c.7248-1G>A
|
rs763079458
|
0.00003
|
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)
|
rs113994140
|
0.00003
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
NM_177939.3(P4HTM):c.1238C>T (p.Pro413Leu)
|
rs757914897
|
0.00003
|
NM_182961.4(SYNE1):c.17682+1G>A
|
rs1064796579
|
0.00003
|
NM_182961.4(SYNE1):c.24129+2T>C
|
rs544985182
|
0.00003
|
NM_000021.4(PSEN1):c.1309A>G (p.Ile437Val)
|
rs764971634
|
0.00002
|
NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)
|
rs180177157
|
0.00002
|
NM_000030.3(AGXT):c.245G>A (p.Gly82Glu)
|
rs121908522
|
0.00002
|
NM_000030.3(AGXT):c.346G>A (p.Gly116Arg)
|
rs180177207
|
0.00002
|
NM_000030.3(AGXT):c.560C>T (p.Ser187Phe)
|
rs180177238
|
0.00002
|
NM_000030.3(AGXT):c.653C>T (p.Ser218Leu)
|
rs180177253
|
0.00002
|
NM_000033.4(ABCD1):c.1747G>A (p.Val583Met)
|
rs1569541120
|
0.00002
|
NM_000033.4(ABCD1):c.785C>T (p.Ser262Leu)
|
rs1204814114
|
0.00002
|
NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)
|
rs754386565
|
0.00002
|
NM_000156.6(GAMT):c.328G>T (p.Val110Phe)
|
rs753198836
|
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.492C>G (p.Ser164Arg)
|
rs746019841
|
0.00002
|
NM_000157.4(GBA1):c.946C>T (p.Arg316Cys)
|
rs1264734195
|
0.00002
|
NM_000170.3(GLDC):c.1652G>T (p.Ser551Ile)
|
rs751822565
|
0.00002
|
NM_000170.3(GLDC):c.1742C>G (p.Pro581Arg)
|
rs772871471
|
0.00002
|
NM_000170.3(GLDC):c.2678C>T (p.Pro893Leu)
|
rs367987650
|
0.00002
|
NM_000170.3(GLDC):c.445C>T (p.Arg149Trp)
|
rs183024300
|
0.00002
|
NM_000170.3(GLDC):c.847G>C (p.Ala283Pro)
|
rs386833589
|
0.00002
|
NM_000287.4(PEX6):c.1962-1G>A
|
rs267608229
|
0.00002
|
NM_000287.4(PEX6):c.2579G>A (p.Arg860Gln)
|
rs61753231
|
0.00002
|
NM_000287.4(PEX6):c.2734G>A (p.Ala912Thr)
|
rs374549180
|
0.00002
|
NM_000311.5(PRNP):c.628G>A (p.Val210Ile)
|
rs74315407
|
0.00002
|
NM_000370.3(TTPA):c.205-2A>G
|
rs758349851
|
0.00002
|
NM_000370.3(TTPA):c.2T>C (p.Met1Thr)
|
rs786204758
|
0.00002
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)
|
rs35916840
|
0.00002
|
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)
|
rs121908200
|
0.00002
|
NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)
|
rs121908202
|
0.00002
|
NM_000414.4(HSD17B4):c.394C>T (p.Arg132Trp)
|
rs773305477
|
0.00002
|
NM_000414.4(HSD17B4):c.587C>T (p.Ala196Val)
|
rs550705310
|
0.00002
|
NM_000466.3(PEX1):c.130-1G>T
|
rs1028247729
|
0.00002
|
NM_000466.3(PEX1):c.1952_1960dup (p.Trp653_Met654insThrValTrp)
|
rs398123408
|
0.00002
|
NM_000466.3(PEX1):c.2730del (p.Leu910fs)
|
rs61750423
|
0.00002
|
NM_000466.3(PEX1):c.2T>C (p.Met1Thr)
|
rs766020928
|
0.00002
|
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
|
rs749067142
|
0.00002
|
NM_000481.4(AMT):c.794G>A (p.Arg265His)
|
rs757918826
|
0.00002
|
NM_000520.6(HEXA):c.1511G>A (p.Arg504His)
|
rs121907955
|
0.00002
|
NM_000520.6(HEXA):c.436del (p.Val146fs)
|
rs1057517174
|
0.00002
|
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys)
|
rs121907953
|
0.00002
|
NM_000521.4(HEXB):c.1417+5G>A
|
rs763517499
|
0.00002
|
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln)
|
rs1352786910
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000702.4(ATP1A2):c.1811G>A (p.Arg604Gln)
|
rs747238010
|
0.00002
|
NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met)
|
rs1226796744
|
0.00002
|
NM_000784.4(CYP27A1):c.1072C>T (p.Gln358Ter)
|
rs533885672
|
0.00002
|
NM_000823.4(GHRHR):c.527C>T (p.Ala176Val)
|
rs774281185
|
0.00002
|
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)
|
rs199983136
|
0.00002
|
NM_001042432.2(CLN3):c.1001G>A (p.Arg334His)
|
rs386833695
|
0.00002
|
NM_001042432.2(CLN3):c.1054C>T (p.Gln352Ter)
|
rs386833697
|
0.00002
|
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
|
rs765893479
|
0.00002
|
NM_001044385.3(TMEM237):c.553+1G>A
|
rs80034299
|
0.00002
|
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly)
|
rs774091057
|
0.00002
|
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp)
|
rs375876694
|
0.00002
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
NM_001128178.3(NPHP1):c.729-2A>G
|
rs773781058
|
0.00002
|
NM_001130438.3(SPTAN1):c.4027C>T (p.Arg1343Cys)
|
rs138827421
|
0.00002
|
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter)
|
rs761732432
|
0.00002
|
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs)
|
rs759593846
|
0.00002
|
NM_001136035.4(TRMT1):c.967C>T (p.Arg323Cys)
|
rs542184779
|
0.00002
|
NM_001165963.4(SCN1A):c.4783C>A (p.Leu1595Ile)
|
rs756238700
|
0.00002
|
NM_001173990.3(TMEM216):c.35-2A>G
|
rs1057517528
|
0.00002
|
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln)
|
rs754449549
|
0.00002
|
NM_001182.5(ALDH7A1):c.1411_1412insG (p.Leu471fs)
|
rs772766995
|
0.00002
|
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val)
|
rs564477999
|
0.00002
|
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg)
|
rs749994791
|
0.00002
|
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys)
|
rs750421791
|
0.00002
|
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys)
|
rs376712059
|
0.00002
|
NM_001242896.3(DEPDC5):c.572A>G (p.Tyr191Cys)
|
rs749809456
|
0.00002
|
NM_001282531.3(ADNP):c.662T>G (p.Ile221Ser)
|
rs747105829
|
0.00002
|
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys)
|
rs772739103
|
0.00002
|
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs)
|
rs770566897
|
0.00002
|
NM_001330260.2(SCN8A):c.3267C>A (p.Asn1089Lys)
|
rs761386688
|
0.00002
|
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)
|
rs769499327
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.1985G>A (p.Ser662Asn)
|
rs773398782
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001365999.1(SZT2):c.2363C>G (p.Ser788Ter)
|
rs769366055
|
0.00002
|
NM_001365999.1(SZT2):c.6724C>T (p.Arg2242Trp)
|
rs765848129
|
0.00002
|
NM_001367561.1(DOCK7):c.4380-1G>T
|
rs774949595
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)
|
rs397514369
|
0.00002
|
NM_001376.5(DYNC1H1):c.13088A>C (p.Lys4363Thr)
|
rs141925609
|
0.00002
|
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter)
|
rs760676442
|
0.00002
|
NM_001408.3(CELSR2):c.3830C>T (p.Pro1277Leu)
|
rs561330579
|
0.00002
|
NM_002063.4(GLRA2):c.1186C>A (p.Pro396Thr)
|
rs368138282
|
0.00002
|
NM_002617.4(PEX10):c.113-1G>A
|
rs867305222
|
0.00002
|
NM_002617.4(PEX10):c.1A>G (p.Met1Val)
|
rs886041314
|
0.00002
|
NM_002617.4(PEX10):c.868C>G (p.His290Asp)
|
rs61752094
|
0.00002
|
NM_002693.3(POLG):c.1156C>T (p.Arg386Cys)
|
rs199759055
|
0.00002
|
NM_002693.3(POLG):c.1808T>C (p.Met603Thr)
|
rs367610201
|
0.00002
|
NM_002693.3(POLG):c.2665G>A (p.Ala889Thr)
|
rs763393580
|
0.00002
|
NM_002693.3(POLG):c.3470A>G (p.Asn1157Ser)
|
rs548076633
|
0.00002
|
NM_002860.4(ALDH18A1):c.2186A>T (p.Asp729Val)
|
rs770249022
|
0.00002
|
NM_003359.4(UGDH):c.1177C>T (p.Arg393Trp)
|
rs113094436
|
0.00002
|
NM_003384.3(VRK1):c.216+1G>C
|
rs774518440
|
0.00002
|
NM_004204.5(PIGQ):c.619C>T (p.Arg207Ter)
|
rs730882240
|
0.00002
|
NM_004562.3(PRKN):c.633A>T (p.Lys211Asn)
|
rs137853060
|
0.00002
|
NM_005861.4(STUB1):c.778dup (p.His260fs)
|
rs780883873
|
0.00002
|
NM_005957.5(MTHFR):c.470G>A (p.Arg157Gln)
|
rs121434295
|
0.00002
|
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)
|
rs137853100
|
0.00002
|
NM_006261.5(PROP1):c.373C>T (p.Arg125Trp)
|
rs146918863
|
0.00002
|
NM_006279.5(ST3GAL3):c.166+1G>A
|
rs148531289
|
0.00002
|
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys)
|
rs144610914
|
0.00002
|
NM_006946.4(SPTBN2):c.5066G>A (p.Arg1689His)
|
rs764884402
|
0.00002
|
NM_007254.4(PNKP):c.1387-2A>G
|
rs766419491
|
0.00002
|
NM_007254.4(PNKP):c.865+1G>A
|
rs762003634
|
0.00002
|
NM_012216.4(MID2):c.1432C>T (p.Arg478Ter)
|
rs200917006
|
0.00002
|
NM_014363.6(SACS):c.1A>G (p.Met1Val)
|
rs771943685
|
0.00002
|
NM_014363.6(SACS):c.2957T>A (p.Leu986Ter)
|
rs766457071
|
0.00002
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys)
|
rs372535542
|
0.00002
|
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs)
|
rs749987648
|
0.00002
|
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter)
|
rs373221034
|
0.00002
|
NM_015378.4(VPS13D):c.941+3A>G
|
rs372431023
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_017777.4(MKS1):c.1024+1G>A
|
rs199874059
|
0.00002
|
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)
|
rs154774640
|
0.00002
|
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)
|
rs154774634
|
0.00002
|
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)
|
rs150363441
|
0.00002
|
NM_018255.4(ELP2):c.1385G>A (p.Arg462Gln)
|
rs371310428
|
0.00002
|
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)
|
rs553697188
|
0.00002
|
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)
|
rs765097897
|
0.00002
|
NM_018941.4(CLN8):c.543+1G>T
|
rs756267448
|
0.00002
|
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys)
|
rs763992407
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_020247.5(COQ8A):c.901C>T (p.Arg301Trp)
|
rs140246430
|
0.00002
|
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val)
|
rs748118737
|
0.00002
|
NM_020702.5(MYORG):c.103A>G (p.Met35Val)
|
rs765483979
|
0.00002
|
NM_020822.3(KCNT1):c.1067G>A (p.Arg356Gln)
|
rs758152252
|
0.00002
|
NM_020843.4(SCAPER):c.334C>T (p.Arg112Ter)
|
rs757834403
|
0.00002
|
NM_022124.6(CDH23):c.1515-12G>A
|
rs369396703
|
0.00002
|
NM_022124.6(CDH23):c.2959G>A (p.Asp987Asn)
|
rs770665588
|
0.00002
|
NM_022124.6(CDH23):c.5311C>T (p.Arg1771Ter)
|
rs750027965
|
0.00002
|
NM_022124.6(CDH23):c.6085C>T (p.Arg2029Trp)
|
rs750880909
|
0.00002
|
NM_022552.5(DNMT3A):c.2206C>T (p.Arg736Cys)
|
rs761934754
|
0.00002
|
NM_024072.4(DDX54):c.1832G>A (p.Arg611Gln)
|
rs777276705
|
0.00002
|
NM_024809.5(TCTN2):c.703del (p.Leu235fs)
|
rs760830696
|
0.00002
|
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)
|
rs121917882
|
0.00002
|
NM_031307.4(PUS3):c.578G>A (p.Arg193Gln)
|
rs576405108
|
0.00002
|
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys)
|
rs121918527
|
0.00002
|
NM_032656.4(DHX37):c.2191G>A (p.Val731Met)
|
rs754186165
|
0.00002
|
NM_032811.3(TBRG1):c.628G>A (p.Ala210Thr)
|
rs758546717
|
0.00002
|
NM_152564.5(VPS13B):c.11239C>T (p.Gln3747Ter)
|
rs386834061
|
0.00002
|
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)
|
rs180177354
|
0.00002
|
NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)
|
rs764776104
|
0.00002
|
NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)
|
rs386834078
|
0.00002
|
NM_152564.5(VPS13B):c.3598C>T (p.Arg1200Ter)
|
rs140353201
|
0.00002
|
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)
|
rs786204533
|
0.00002
|
NM_152564.5(VPS13B):c.5334del (p.Arg1779fs)
|
rs763909903
|
0.00002
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
NM_152564.5(VPS13B):c.8440C>T (p.Arg2814Ter)
|
rs386834113
|
0.00002
|
NM_153033.5(KCTD7):c.458G>A (p.Arg153His)
|
rs765235486
|
0.00002
|
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)
|
rs398124546
|
0.00002
|
NM_172107.4(KCNQ2):c.1811G>A (p.Arg604His)
|
rs1203495492
|
0.00002
|
NM_198586.3(NHLRC1):c.361G>A (p.Gly121Ser)
|
rs780082503
|
0.00002
|
NC_000005.9:g.118829592G>T
|
rs368744809
|
0.00001
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)
|
rs180177161
|
0.00001
|
NM_000030.3(AGXT):c.107G>A (p.Arg36His)
|
rs180177162
|
0.00001
|
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)
|
rs569643246
|
0.00001
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
NM_000030.3(AGXT):c.122G>T (p.Gly41Val)
|
rs180177168
|
0.00001
|
NM_000030.3(AGXT):c.215A>T (p.Asn72Ile)
|
rs113879010
|
0.00001
|
NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)
|
rs180177184
|
0.00001
|
NM_000030.3(AGXT):c.2T>C (p.Met1Thr)
|
rs138584408
|
0.00001
|
NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)
|
rs180177203
|
0.00001
|
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn)
|
rs886055840
|
0.00001
|
NM_000030.3(AGXT):c.752G>A (p.Trp251Ter)
|
rs786204545
|
0.00001
|
NM_000030.3(AGXT):c.777-1G>C
|
rs180177267
|
0.00001
|
NM_000030.3(AGXT):c.907C>T (p.Gln303Ter)
|
rs180177294
|
0.00001
|
NM_000030.3(AGXT):c.976del (p.Val326fs)
|
rs180177301
|
0.00001
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000033.4(ABCD1):c.1567C>A (p.Leu523Ile)
|
rs1159943880
|
0.00001
|
NM_000033.4(ABCD1):c.1597A>C (p.Lys533Gln)
|
rs781862879
|
0.00001
|
NM_000033.4(ABCD1):c.508G>A (p.Ala170Thr)
|
rs782293513
|
0.00001
|
NM_000033.4(ABCD1):c.739G>A (p.Ala247Thr)
|
rs782487174
|
0.00001
|
NM_000033.4(ABCD1):c.823C>T (p.Arg275Trp)
|
rs782083931
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys)
|
rs778743524
|
0.00001
|
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)
|
rs74315296
|
0.00001
|
NM_000098.3(CPT2):c.341-2A>G
|
rs752468216
|
0.00001
|
NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)
|
rs515726177
|
0.00001
|
NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)
|
rs28936674
|
0.00001
|
NM_000098.3(CPT2):c.75del (p.Ser26fs)
|
rs1057517493
|
0.00001
|
NM_000098.3(CPT2):c.896_906dup (p.Arg303fs)
|
rs766004699
|
0.00001
|
NM_000100.4(CSTB):c.10G>T (p.Gly4Trp)
|
rs74315443
|
0.00001
|
NM_000100.4(CSTB):c.125C>A (p.Ser42Ter)
|
rs386833439
|
0.00001
|
NM_000108.5(DLD):c.1463C>T (p.Pro488Leu)
|
rs121964988
|
0.00001
|
NM_000108.5(DLD):c.684+1G>T
|
rs780025714
|
0.00001
|
NM_000108.5(DLD):c.803_804del (p.Gln268fs)
|
rs764611160
|
0.00001
|
NM_000108.5(DLD):c.875+1G>A
|
rs1328820332
|
0.00001
|
NM_000156.6(GAMT):c.224C>T (p.Ala75Val)
|
rs1441030187
|
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_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.1151C>T (p.Ser384Phe)
|
rs868591897
|
0.00001
|
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
|
rs80356769
|
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.476G>A (p.Arg159Gln)
|
rs79653797
|
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_000170.2(GLDC):c.2980G>A (p.Gly994Arg)
|
rs1406713104
|
0.00001
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
0.00001
|
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)
|
rs386833521
|
0.00001
|
NM_000170.3(GLDC):c.128del (p.Asp43fs)
|
rs1251443902
|
0.00001
|
NM_000170.3(GLDC):c.1317G>T (p.Lys439Asn)
|
rs151163582
|
0.00001
|
NM_000170.3(GLDC):c.1382G>A (p.Arg461Gln)
|
rs386833524
|
0.00001
|
NM_000170.3(GLDC):c.1401+1G>A
|
rs1211616091
|
0.00001
|
NM_000170.3(GLDC):c.1664T>G (p.Leu555Arg)
|
rs765384489
|
0.00001
|
NM_000170.3(GLDC):c.1723G>T (p.Glu575Ter)
|
rs1554646529
|
0.00001
|
NM_000170.3(GLDC):c.1786C>T (p.Arg596Ter)
|
rs386833531
|
0.00001
|
NM_000170.3(GLDC):c.1828C>T (p.Gln610Ter)
|
rs1251538998
|
0.00001
|
NM_000170.3(GLDC):c.1852G>A (p.Gly618Arg)
|
rs758575745
|
0.00001
|
NM_000170.3(GLDC):c.2052+1G>C
|
rs765906340
|
0.00001
|
NM_000170.3(GLDC):c.2186del (p.Ala729fs)
|
rs386833543
|
0.00001
|
NM_000170.3(GLDC):c.2196T>A (p.Asn732Lys)
|
rs386833544
|
0.00001
|
NM_000170.3(GLDC):c.2198C>A (p.Ala733Asp)
|
rs1817625926
|
0.00001
|
NM_000170.3(GLDC):c.2317A>T (p.Lys773Ter)
|
rs373618804
|
0.00001
|
NM_000170.3(GLDC):c.2324A>G (p.His775Arg)
|
rs386833555
|
0.00001
|
NM_000170.3(GLDC):c.2368C>T (p.Arg790Trp)
|
rs386833556
|
0.00001
|
NM_000170.3(GLDC):c.2441C>T (p.Ser814Phe)
|
rs763075374
|
0.00001
|
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)
|
rs1275684568
|
0.00001
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
NM_000170.3(GLDC):c.2869T>C (p.Ser957Pro)
|
rs386833571
|
0.00001
|
NM_000170.3(GLDC):c.2885G>A (p.Arg962Gln)
|
rs1452327155
|
0.00001
|
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter)
|
rs386833572
|
0.00001
|
NM_000170.3(GLDC):c.2919+1G>A
|
rs386833575
|
0.00001
|
NM_000170.3(GLDC):c.2962C>G (p.Arg988Gly)
|
rs1288008254
|
0.00001
|
NM_000170.3(GLDC):c.505T>C (p.Ser169Pro)
|
rs1356375715
|
0.00001
|
NM_000170.3(GLDC):c.714-2A>G
|
rs1170385434
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000170.3(GLDC):c.943G>A (p.Gly315Ser)
|
rs1292183482
|
0.00001
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00001
|
NM_000286.3(PEX12):c.1009C>T (p.Gln337Ter)
|
rs760739894
|
0.00001
|
NM_000286.3(PEX12):c.211C>T (p.Gln71Ter)
|
rs767447750
|
0.00001
|
NM_000286.3(PEX12):c.331C>T (p.Gln111Ter)
|
rs1056238409
|
0.00001
|
NM_000286.3(PEX12):c.49C>T (p.Gln17Ter)
|
rs888633730
|
0.00001
|
NM_000286.3(PEX12):c.680+1G>A
|
rs904972651
|
0.00001
|
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs)
|
rs1408438094
|
0.00001
|
NM_000287.4(PEX6):c.1130+2T>C
|
rs1416001981
|
0.00001
|
NM_000287.4(PEX6):c.1231A>G (p.Met411Val)
|
rs752177240
|
0.00001
|
NM_000287.4(PEX6):c.1233+1G>A
|
rs763459576
|
0.00001
|
NM_000287.4(PEX6):c.1234-1G>T
|
rs1554127533
|
0.00001
|
NM_000287.4(PEX6):c.1287del (p.Trp430fs)
|
rs1258472160
|
0.00001
|
NM_000287.4(PEX6):c.1801C>T (p.Arg601Trp)
|
rs61753225
|
0.00001
|
NM_000287.4(PEX6):c.1841del (p.Leu614fs)
|
rs863225083
|
0.00001
|
NM_000287.4(PEX6):c.2245G>A (p.Gly749Ser)
|
rs1244339215
|
0.00001
|
NM_000287.4(PEX6):c.2362+1G>A
|
rs1443107232
|
0.00001
|
NM_000287.4(PEX6):c.2362G>A (p.Val788Met)
|
rs267608240
|
0.00001
|
NM_000287.4(PEX6):c.2435G>A (p.Arg812Gln)
|
rs61753229
|
0.00001
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
NM_000287.4(PEX6):c.273G>A (p.Trp91Ter)
|
rs1010184002
|
0.00001
|
NM_000287.4(PEX6):c.2806+1G>A
|
rs751900826
|
0.00001
|
NM_000287.4(PEX6):c.406_407insT (p.Pro136fs)
|
rs1561830903
|
0.00001
|
NM_000288.4(PEX7):c.188+1G>C
|
rs267608254
|
0.00001
|
NM_000288.4(PEX7):c.345T>G (p.Tyr115Ter)
|
rs121909154
|
0.00001
|
NM_000288.4(PEX7):c.429del (p.Val144fs)
|
rs61753248
|
0.00001
|
NM_000288.4(PEX7):c.592C>T (p.Gln198Ter)
|
rs764924345
|
0.00001
|
NM_000306.4(POU1F1):c.212C>T (p.Ala71Val)
|
rs771947200
|
0.00001
|
NM_000306.4(POU1F1):c.649C>T (p.Arg217Ter)
|
rs761275346
|
0.00001
|
NM_000310.4(PPT1):c.353G>A (p.Gly118Asp)
|
rs143657539
|
0.00001
|
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)
|
rs386833665
|
0.00001
|
NM_000311.5(PRNP):c.443G>A (p.Arg148His)
|
rs181348299
|
0.00001
|
NM_000314.8(PTEN):c.269T>C (p.Phe90Ser)
|
rs1859965098
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys)
|
rs121913293
|
0.00001
|
NM_000314.8(PTEN):c.518G>A (p.Arg173His)
|
rs121913294
|
0.00001
|
NM_000318.3(PEX2):c.-17-2A>G
|
rs1289852067
|
0.00001
|
NM_000318.3(PEX2):c.157G>T (p.Glu53Ter)
|
rs1224562361
|
0.00001
|
NM_000318.3(PEX2):c.373C>T (p.Arg125Ter)
|
rs61752124
|
0.00001
|
NM_000345.4(SNCA):c.44T>C (p.Val15Ala)
|
rs1739238968
|
0.00001
|
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
NM_000391.4(TPP1):c.1205A>G (p.Glu402Gly)
|
rs1471156821
|
0.00001
|
NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala)
|
rs756530648
|
0.00001
|
NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)
|
rs1184563885
|
0.00001
|
NM_000391.4(TPP1):c.1551+1G>C
|
rs786204553
|
0.00001
|
NM_000391.4(TPP1):c.1552-1G>A
|
rs1057516511
|
0.00001
|
NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)
|
rs121908195
|
0.00001
|
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)
|
rs764256845
|
0.00001
|
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)
|
rs796053439
|
0.00001
|
NM_000414.4(HSD17B4):c.1210-11C>G
|
rs779466683
|
0.00001
|
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
|
rs766199971
|
0.00001
|
NM_000414.4(HSD17B4):c.1547T>C (p.Ile516Thr)
|
rs587777443
|
0.00001
|
NM_000414.4(HSD17B4):c.1574-1G>A
|
rs755412738
|
0.00001
|
NM_000414.4(HSD17B4):c.2116C>T (p.Gln706Ter)
|
rs771510541
|
0.00001
|
NM_000414.4(HSD17B4):c.280+2T>C
|
rs770772281
|
0.00001
|
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp)
|
rs775766910
|
0.00001
|
NM_000414.4(HSD17B4):c.58+1G>T
|
rs1260517680
|
0.00001
|
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys)
|
rs969485098
|
0.00001
|
NM_000414.4(HSD17B4):c.752G>A (p.Arg251Gln)
|
rs773024366
|
0.00001
|
NM_000466.3(PEX1):c.1777G>A (p.Gly593Arg)
|
rs61750407
|
0.00001
|
NM_000466.3(PEX1):c.180G>A (p.Trp60Ter)
|
rs1408895107
|
0.00001
|
NM_000466.3(PEX1):c.1991T>C (p.Leu664Pro)
|
rs121434455
|
0.00001
|
NM_000466.3(PEX1):c.1A>T (p.Met1Leu)
|
rs1057517501
|
0.00001
|
NM_000466.3(PEX1):c.2071+1G>T
|
rs267608177
|
0.00001
|
NM_000466.3(PEX1):c.2230C>T (p.Gln744Ter)
|
rs398123409
|
0.00001
|
NM_000466.3(PEX1):c.2583+1G>T
|
rs771586413
|
0.00001
|
NM_000466.3(PEX1):c.2719-1G>A
|
rs1791673946
|
0.00001
|
NM_000466.3(PEX1):c.2845C>T (p.Arg949Trp)
|
rs866184460
|
0.00001
|
NM_000466.3(PEX1):c.2926+2T>C
|
rs267608180
|
0.00001
|
NM_000466.3(PEX1):c.3038G>C (p.Arg1013Pro)
|
rs1484321655
|
0.00001
|
NM_000466.3(PEX1):c.3208-1G>A
|
rs1057517518
|
0.00001
|
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)
|
rs149806989
|
0.00001
|
NM_000466.3(PEX1):c.5G>A (p.Trp2Ter)
|
rs762679408
|
0.00001
|
NM_000481.4(AMT):c.139G>A (p.Gly47Arg)
|
rs121964982
|
0.00001
|
NM_000481.4(AMT):c.212A>C (p.His71Pro)
|
rs1053797603
|
0.00001
|
NM_000481.4(AMT):c.317T>C (p.Ile106Thr)
|
rs1249645541
|
0.00001
|
NM_000481.4(AMT):c.339+1G>A
|
rs1575308129
|
0.00001
|
NM_000481.4(AMT):c.496C>T (p.Gln166Ter)
|
rs558998633
|
0.00001
|
NM_000481.4(AMT):c.664C>T (p.Arg222Cys)
|
rs781466698
|
0.00001
|
NM_000481.4(AMT):c.793C>T (p.Arg265Cys)
|
rs779483959
|
0.00001
|
NM_000481.4(AMT):c.826G>C (p.Asp276His)
|
rs121964984
|
0.00001
|
NM_000481.4(AMT):c.889C>T (p.Arg297Ter)
|
rs766422988
|
0.00001
|
NM_000481.4(AMT):c.958C>T (p.Arg320Cys)
|
rs866625610
|
0.00001
|
NM_000481.4(AMT):c.996dup (p.His333fs)
|
rs2049025668
|
0.00001
|
NM_000489.6(ATRX):c.4862C>T (p.Thr1621Met)
|
rs122445106
|
0.00001
|
NM_000515.5(GH1):c.626G>A (p.Arg209His)
|
rs137853223
|
0.00001
|
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter)
|
rs121907963
|
0.00001
|
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)
|
rs750727201
|
0.00001
|
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter)
|
rs745996955
|
0.00001
|
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys)
|
rs121907981
|
0.00001
|
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys)
|
rs121907952
|
0.00001
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)
|
rs759092928
|
0.00001
|
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)
|
rs769035623
|
0.00001
|
NM_000520.6(HEXA):c.253+1G>A
|
rs770093080
|
0.00001
|
NM_000520.6(HEXA):c.2T>C (p.Met1Thr)
|
rs786204721
|
0.00001
|
NM_000520.6(HEXA):c.346+1G>C
|
rs797044432
|
0.00001
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln)
|
rs121907957
|
0.00001
|
NM_000520.6(HEXA):c.536A>G (p.His179Arg)
|
rs747372270
|
0.00001
|
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter)
|
rs1555475519
|
0.00001
|
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys)
|
rs566580738
|
0.00001
|
NM_000520.6(HEXA):c.772G>C (p.Asp258His)
|
rs121907971
|
0.00001
|
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter)
|
rs751393950
|
0.00001
|
NM_000520.6(HEXA):c.972T>A (p.Val324=)
|
rs28942072
|
0.00001
|
NM_000521.4(HEXB):c.1165dup (p.Gln389fs)
|
rs1749680051
|
0.00001
|
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)
|
rs1309123671
|
0.00001
|
NM_000521.4(HEXB):c.1243-2A>G
|
rs398123446
|
0.00001
|
NM_000521.4(HEXB):c.1287T>G (p.Tyr429Ter)
|
rs1749739842
|
0.00001
|
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter)
|
rs1554034452
|
0.00001
|
NM_000521.4(HEXB):c.1508+1G>A
|
rs758459585
|
0.00001
|
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln)
|
rs121907983
|
0.00001
|
NM_000521.4(HEXB):c.1598G>A (p.Arg533His)
|
rs1291555996
|
0.00001
|
NM_000521.4(HEXB):c.1614-16_1622dup
|
rs756912360
|
0.00001
|
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)
|
rs938611392
|
0.00001
|
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)
|
rs753823903
|
0.00001
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
NM_000521.4(HEXB):c.611G>A (p.Gly204Glu)
|
rs762821794
|
0.00001
|
NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter)
|
rs1749130074
|
0.00001
|
NM_000521.4(HEXB):c.778T>C (p.Tyr260His)
|
rs1453919511
|
0.00001
|
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp)
|
rs373979283
|
0.00001
|
NM_000521.4(HEXB):c.965del (p.Ile322fs)
|
rs768438206
|
0.00001
|
NM_000546.6(TP53):c.374C>T (p.Thr125Met)
|
rs786201057
|
0.00001
|
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)
|
rs1057519996
|
0.00001
|
NM_000546.6(TP53):c.488A>G (p.Tyr163Cys)
|
rs148924904
|
0.00001
|
NM_000546.6(TP53):c.523C>T (p.Arg175Cys)
|
rs138729528
|
0.00001
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
NM_000546.6(TP53):c.536A>G (p.His179Arg)
|
rs1057519991
|
0.00001
|
NM_000546.6(TP53):c.578A>C (p.His193Pro)
|
rs786201838
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.711G>A (p.Met237Ile)
|
rs587782664
|
0.00001
|
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr)
|
rs730882005
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr)
|
rs863224451
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_000548.5(TSC2):c.1081C>G (p.Leu361Val)
|
rs796053483
|
0.00001
|
NM_000702.4(ATP1A2):c.1042C>T (p.Arg348Cys)
|
rs765818392
|
0.00001
|
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His)
|
rs765909830
|
0.00001
|
NM_000702.4(ATP1A2):c.1888A>C (p.Ile630Leu)
|
rs1382260409
|
0.00001
|
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn)
|
rs121918614
|
0.00001
|
NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr)
|
rs121918617
|
0.00001
|
NM_000719.7(CACNA1C):c.3568G>T (p.Val1190Leu)
|
rs1048241141
|
0.00001
|
NM_000784.4(CYP27A1):c.1017+1G>A
|
rs1943742261
|
0.00001
|
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)
|
rs1406298698
|
0.00001
|
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln)
|
rs121908099
|
0.00001
|
NM_000784.4(CYP27A1):c.1263+2T>C
|
rs777935791
|
0.00001
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp)
|
rs121908098
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)
|
rs759003992
|
0.00001
|
NM_000784.4(CYP27A1):c.32G>A (p.Trp11Ter)
|
rs1398584213
|
0.00001
|
NM_000784.4(CYP27A1):c.409C>T (p.Arg137Trp)
|
rs72551312
|
0.00001
|
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=)
|
rs587778796
|
0.00001
|
NM_000784.4(CYP27A1):c.745C>T (p.Gln249Ter)
|
rs72551316
|
0.00001
|
NM_000784.4(CYP27A1):c.776A>G (p.Lys259Arg)
|
rs72551317
|
0.00001
|
NM_000823.4(GHRHR):c.281G>A (p.Arg94Gln)
|
rs200848306
|
0.00001
|
NM_000823.4(GHRHR):c.731G>A (p.Trp244Ter)
|
rs1049885467
|
0.00001
|
NM_001003787.4(STRADA):c.36+1G>A
|
rs1185962534
|
0.00001
|
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser)
|
rs771145682
|
0.00001
|
NM_001032221.6(STXBP1):c.791A>G (p.Tyr264Cys)
|
rs1316686443
|
0.00001
|
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)
|
rs1135401736
|
0.00001
|
NM_001039111.3(TRIM71):c.2450G>A (p.Arg817Gln)
|
rs1045177462
|
0.00001
|
NM_001039803.3(CDK20):c.610T>C (p.Phe204Leu)
|
rs745561217
|
0.00001
|
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)
|
rs149644940
|
0.00001
|
NM_001040616.3(LINS1):c.1432G>T (p.Glu478Ter)
|
rs1163046936
|
0.00001
|
NM_001042432.2(CLN3):c.1198-1G>T
|
rs386833702
|
0.00001
|
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)
|
rs386833703
|
0.00001
|
NM_001042432.2(CLN3):c.125+5G>A
|
rs386833704
|
0.00001
|
NM_001042432.2(CLN3):c.1A>G (p.Met1Val)
|
rs386833708
|
0.00001
|
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)
|
rs386833709
|
0.00001
|
NM_001042432.2(CLN3):c.461-1G>T
|
rs386833722
|
0.00001
|
NM_001042432.2(CLN3):c.47-1G>A
|
rs1555469477
|
0.00001
|
NM_001042432.2(CLN3):c.472G>C (p.Ala158Pro)
|
rs386833723
|
0.00001
|
NM_001042432.2(CLN3):c.622dup (p.Ser208fs)
|
rs386833736
|
0.00001
|
NM_001042432.2(CLN3):c.837+5G>A
|
rs756848924
|
0.00001
|
NM_001042432.2(CLN3):c.906+2T>A
|
rs771788391
|
0.00001
|
NM_001042432.2(CLN3):c.963-1G>A
|
rs386833742
|
0.00001
|
NM_001044.5(SLC6A3):c.1561C>T (p.Arg521Trp)
|
rs431905516
|
0.00001
|
NM_001044385.3(TMEM237):c.136+1G>T
|
rs778823927
|
0.00001
|
NM_001077350.3(NPRL3):c.1270C>T (p.Arg424Ter)
|
rs886037961
|
0.00001
|
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys)
|
rs369691608
|
0.00001
|
NM_001080414.4(CCDC88C):c.1993G>A (p.Glu665Lys)
|
rs956104232
|
0.00001
|
NM_001080414.4(CCDC88C):c.5841_5842del (p.Glu1949fs)
|
rs387907321
|
0.00001
|
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)
|
rs1064797047
|
0.00001
|
NM_001112741.2(KCNC1):c.1538C>T (p.Ala513Val)
|
rs1485166517
|
0.00001
|
NM_001127178.3(PIGG):c.1332+1G>A
|
rs779043705
|
0.00001
|
NM_001127178.3(PIGG):c.498G>A (p.Trp166Ter)
|
rs1418085145
|
0.00001
|
NM_001127222.2(CACNA1A):c.2105-2A>G
|
rs906086634
|
0.00001
|
NM_001127222.2(CACNA1A):c.4978C>T (p.Arg1660Cys)
|
rs779576853
|
0.00001
|
NM_001127222.2(CACNA1A):c.5033G>A (p.Arg1678His)
|
rs2055849544
|
0.00001
|
NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)
|
rs1296629000
|
0.00001
|
NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp)
|
rs1057518779
|
0.00001
|
NM_001127649.3(PEX26):c.667+2T>C
|
rs267608191
|
0.00001
|
NM_001128178.3(NPHP1):c.143+1G>C
|
rs745806504
|
0.00001
|
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter)
|
rs1311042980
|
0.00001
|
NM_001128178.3(NPHP1):c.329+1G>A
|
rs376974221
|
0.00001
|
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter)
|
rs1349732291
|
0.00001
|
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter)
|
rs753517219
|
0.00001
|
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His)
|
rs201693154
|
0.00001
|
NM_001134407.3(GRIN2A):c.1783_1784del (p.His595fs)
|
rs779219028
|
0.00001
|
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)
|
rs1785745572
|
0.00001
|
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)
|
rs756276537
|
0.00001
|
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter)
|
rs587783013
|
0.00001
|
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys)
|
rs376754552
|
0.00001
|
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter)
|
rs1270654737
|
0.00001
|
NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter)
|
rs1194329020
|
0.00001
|
NM_001165963.4(SCN1A):c.1184C>T (p.Ala395Val)
|
rs759121197
|
0.00001
|
NM_001165963.4(SCN1A):c.203T>C (p.Ile68Thr)
|
rs758871507
|
0.00001
|
NM_001165963.4(SCN1A):c.2353A>T (p.Met785Leu)
|
rs767045134
|
0.00001
|
NM_001165963.4(SCN1A):c.2522C>T (p.Thr841Met)
|
rs750901301
|
0.00001
|
NM_001165963.4(SCN1A):c.2911G>A (p.Val971Ile)
|
rs748816300
|
0.00001
|
NM_001165963.4(SCN1A):c.3241G>A (p.Gly1081Arg)
|
rs1248613652
|
0.00001
|
NM_001165963.4(SCN1A):c.3629C>T (p.Thr1210Met)
|
rs121918738
|
0.00001
|
NM_001165963.4(SCN1A):c.3721T>C (p.Tyr1241His)
|
rs922514173
|
0.00001
|
NM_001165963.4(SCN1A):c.3734G>A (p.Arg1245Gln)
|
rs121917912
|
0.00001
|
NM_001165963.4(SCN1A):c.3925C>T (p.Leu1309Phe)
|
rs121918801
|
0.00001
|
NM_001165963.4(SCN1A):c.4676T>C (p.Met1559Thr)
|
rs1689707865
|
0.00001
|
NM_001165963.4(SCN1A):c.5224G>A (p.Asp1742Asn)
|
rs528239871
|
0.00001
|
NM_001165963.4(SCN1A):c.5620C>T (p.Arg1874Trp)
|
rs796053043
|
0.00001
|
NM_001165963.4(SCN1A):c.5813C>T (p.Ala1938Val)
|
rs915676341
|
0.00001
|
NM_001165963.4(SCN1A):c.661C>G (p.Leu221Val)
|
rs886039456
|
0.00001
|
NM_001165963.4(SCN1A):c.746A>G (p.Asp249Gly)
|
rs762927460
|
0.00001
|
NM_001165963.4(SCN1A):c.82C>T (p.Arg28Cys)
|
rs754032480
|
0.00001
|
NM_001165963.4(SCN1A):c.83G>A (p.Arg28His)
|
rs398123601
|
0.00001
|
NM_001173990.3(TMEM216):c.191del (p.Leu64fs)
|
rs1858737558
|
0.00001
|
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys)
|
rs779526456
|
0.00001
|
NM_001173990.3(TMEM216):c.222del (p.Phe76fs)
|
rs1057517512
|
0.00001
|
NM_001173990.3(TMEM216):c.34+2T>C
|
rs1057517498
|
0.00001
|
NM_001182.5(ALDH7A1):c.1061A>G (p.Tyr354Cys)
|
rs1471249688
|
0.00001
|
NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser)
|
rs1045606047
|
0.00001
|
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu)
|
rs780233639
|
0.00001
|
NM_001182.5(ALDH7A1):c.1376T>C (p.Ile459Thr)
|
rs1057518529
|
0.00001
|
NM_001182.5(ALDH7A1):c.1547A>G (p.Tyr516Cys)
|
rs200102503
|
0.00001
|
NM_001182.5(ALDH7A1):c.1565+1G>T
|
rs1064793830
|
0.00001
|
NM_001182.5(ALDH7A1):c.246+1G>A
|
rs764588746
|
0.00001
|
NM_001182.5(ALDH7A1):c.312+1G>A
|
rs199497486
|
0.00001
|
NM_001182.5(ALDH7A1):c.607T>G (p.Trp203Gly)
|
rs555896752
|
0.00001
|
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)
|
rs587784299
|
0.00001
|
NM_001190274.2(FBXO11):c.2699C>G (p.Thr900Arg)
|
rs780870758
|
0.00001
|
NM_001199107.2(TBC1D24):c.119G>T (p.Arg40Leu)
|
rs760474458
|
0.00001
|
NM_001199107.2(TBC1D24):c.866C>T (p.Ala289Val)
|
rs748759187
|
0.00001
|
NM_001199107.2(TBC1D24):c.965+2T>C
|
rs755370981
|
0.00001
|
NM_001242896.3(DEPDC5):c.695-1G>T
|
rs1265464096
|
0.00001
|
NM_001244008.2(KIF1A):c.1048C>T (p.Arg350Trp)
|
rs387907259
|
0.00001
|
NM_001244008.2(KIF1A):c.499C>T (p.Arg167Cys)
|
rs672601365
|
0.00001
|
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn)
|
rs397514563
|
0.00001
|
NM_001257180.2(SLC20A2):c.1703C>T (p.Pro568Leu)
|
rs763252801
|
0.00001
|
NM_001257180.2(SLC20A2):c.1794+1G>C
|
rs1052304545
|
0.00001
|
NM_001271.4(CHD2):c.2537G>A (p.Arg846Gln)
|
rs1429234959
|
0.00001
|
NM_001271.4(CHD2):c.5027G>A (p.Gly1676Glu)
|
rs150951454
|
0.00001
|
NM_001278512.2(AP3B2):c.2978_2979del (p.Pro993fs)
|
rs1347618037
|
0.00001
|
NM_001323289.2(CDKL5):c.176G>A (p.Arg59Gln)
|
rs1555949009
|
0.00001
|
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu)
|
rs587783157
|
0.00001
|
NM_001329943.3(KIAA0586):c.1885-2A>G
|
rs1431898844
|
0.00001
|
NM_001329943.3(KIAA0586):c.2944+4A>C
|
rs372841738
|
0.00001
|
NM_001329943.3(KIAA0586):c.3781+2T>C
|
rs1331480187
|
0.00001
|
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter)
|
rs1566903524
|
0.00001
|
NM_001329943.3(KIAA0586):c.4324-1G>A
|
rs753649082
|
0.00001
|
NM_001329943.3(KIAA0586):c.4324-2A>G
|
rs763815640
|
0.00001
|
NM_001330360.2(POLA1):c.1207G>A (p.Asp403Asn)
|
rs774419889
|
0.00001
|
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)
|
rs28934602
|
0.00001
|
NM_001352514.2(HLCS):c.1621-2A>G
|
rs750728042
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001352514.2(HLCS):c.2527C>T (p.Gln843Ter)
|
rs1466111134
|
0.00001
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001352514.2(HLCS):c.712_713del (p.Arg238fs)
|
rs1284747916
|
0.00001
|
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg)
|
rs780265931
|
0.00001
|
NM_001365536.1(SCN9A):c.2517+1G>C
|
rs560913943
|
0.00001
|
NM_001365536.1(SCN9A):c.258+1G>A
|
rs755067851
|
0.00001
|
NM_001365536.1(SCN9A):c.3928G>A (p.Val1310Ile)
|
rs121908913
|
0.00001
|
NM_001365536.1(SCN9A):c.4503+1G>T
|
rs746241591
|
0.00001
|
NM_001365999.1(SZT2):c.3640C>T (p.Arg1214Ter)
|
rs761810492
|
0.00001
|
NM_001365999.1(SZT2):c.5396G>A (p.Trp1799Ter)
|
rs1306143550
|
0.00001
|
NM_001365999.1(SZT2):c.5905C>T (p.Arg1969Ter)
|
rs764896693
|
0.00001
|
NM_001365999.1(SZT2):c.654_655del (p.Asp220fs)
|
rs756942804
|
0.00001
|
NM_001365999.1(SZT2):c.6976C>T (p.Arg2326Ter)
|
rs1654854600
|
0.00001
|
NM_001365999.1(SZT2):c.9775C>T (p.Arg3259Ter)
|
rs1005930319
|
0.00001
|
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs)
|
rs770283117
|
0.00001
|
NM_001367561.1(DOCK7):c.5101C>T (p.Arg1701Ter)
|
rs1419019482
|
0.00001
|
NM_001367561.1(DOCK7):c.819-1G>A
|
rs763358033
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001370658.1(BTD):c.1154T>C (p.Leu385Pro)
|
rs397514406
|
0.00001
|
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)
|
rs397514410
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)
|
rs749460715
|
0.00001
|
NM_001370658.1(BTD):c.124G>A (p.Val42Met)
|
rs397507170
|
0.00001
|
NM_001370658.1(BTD):c.1274G>T (p.Gly425Val)
|
rs397514402
|
0.00001
|
NM_001370658.1(BTD):c.1324del (p.Arg442fs)
|
rs397514420
|
0.00001
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
NM_001370658.1(BTD):c.1553G>A (p.Arg518His)
|
rs397514429
|
0.00001
|
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)
|
rs104893687
|
0.00001
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
NM_001370658.1(BTD):c.197T>G (p.Met66Arg)
|
rs587783002
|
0.00001
|
NM_001370658.1(BTD):c.249+1G>T
|
rs373249212
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.265G>C (p.Val89Leu)
|
rs372416959
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.360G>A (p.Trp120Ter)
|
rs1306944669
|
0.00001
|
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)
|
rs397514359
|
0.00001
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001370658.1(BTD):c.571C>T (p.Arg191Cys)
|
rs372844636
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001370658.1(BTD):c.577del (p.His193fs)
|
rs780874850
|
0.00001
|
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)
|
rs397514381
|
0.00001
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001370658.1(BTD):c.754T>G (p.Trp252Gly)
|
rs397514387
|
0.00001
|
NM_001370658.1(BTD):c.941_942del (p.Ile314fs)
|
rs749162799
|
0.00001
|
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His)
|
rs749704755
|
0.00001
|
NM_001371727.1(GABRB2):c.862A>G (p.Ile288Val)
|
rs1021186046
|
0.00001
|
NM_001371986.1(UNC80):c.1078C>T (p.Arg360Ter)
|
rs200659479
|
0.00001
|
NM_001371986.1(UNC80):c.3787C>T (p.Arg1263Ter)
|
rs864321622
|
0.00001
|
NM_001376.5(DYNC1H1):c.1411C>T (p.Arg471Cys)
|
rs2047892380
|
0.00001
|
NM_001378452.1(ITPR1):c.1516C>T (p.Arg506Trp)
|
rs2093873570
|
0.00001
|
NM_001378452.1(ITPR1):c.2843G>A (p.Gly948Glu)
|
rs1443276640
|
0.00001
|
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter)
|
rs781252161
|
0.00001
|
NM_001378615.1(CC2D2A):c.3594+5G>A
|
rs863225181
|
0.00001
|
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr)
|
rs780190318
|
0.00001
|
NM_001378778.1(MPDZ):c.1972C>T (p.His658Tyr)
|
rs368581522
|
0.00001
|
NM_001378778.1(MPDZ):c.4171C>T (p.Arg1391Ter)
|
rs777752091
|
0.00001
|
NM_001378778.1(MPDZ):c.4906C>T (p.Arg1636Ter)
|
rs797045095
|
0.00001
|
NM_001382391.1(CSPP1):c.1497-2A>C
|
rs766633448
|
0.00001
|
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter)
|
rs1554117456
|
0.00001
|
NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter)
|
rs1171996547
|
0.00001
|
NM_001386140.1(MTTP):c.1868-2A>G
|
rs760547155
|
0.00001
|
NM_001386140.1(MTTP):c.1949del (p.Ile650fs)
|
rs1725952378
|
0.00001
|
NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter)
|
rs760855321
|
0.00001
|
NM_001482.3(GATM):c.778C>T (p.Arg260Ter)
|
rs775933965
|
0.00001
|
NM_001510.4(GRID2):c.671G>A (p.Arg224Gln)
|
rs368143665
|
0.00001
|
NM_001543.5(NDST1):c.1831G>A (p.Gly611Ser)
|
rs606231459
|
0.00001
|
NM_001845.6(COL4A1):c.1702G>T (p.Gly568Cys)
|
rs375477517
|
0.00001
|
NM_001845.6(COL4A1):c.3016C>T (p.Leu1006Phe)
|
rs1877889898
|
0.00001
|
NM_001845.6(COL4A1):c.3187C>T (p.Arg1063Ter)
|
rs1877827904
|
0.00001
|
NM_001845.6(COL4A1):c.518G>A (p.Gly173Asp)
|
rs567124920
|
0.00001
|
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)
|
rs797044947
|
0.00001
|
NM_001931.5(DLAT):c.1728C>A (p.Phe576Leu)
|
rs119103240
|
0.00001
|
NM_001958.5(EEF1A2):c.1136T>C (p.Ile379Thr)
|
rs1490454929
|
0.00001
|
NM_002074.5(GNB1):c.229G>A (p.Gly77Ser)
|
rs758432471
|
0.00001
|
NM_002080.4(GOT2):c.1009C>G (p.Arg337Gly)
|
rs1247507359
|
0.00001
|
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)
|
rs61750434
|
0.00001
|
NM_002617.4(PEX10):c.776+2T>C
|
rs1335685844
|
0.00001
|
NM_002617.4(PEX10):c.827G>T (p.Cys276Phe)
|
rs1414973726
|
0.00001
|
NM_002617.4(PEX10):c.913-2A>C
|
rs758250423
|
0.00001
|
NM_002693.3(POLG):c.1283T>C (p.Leu428Pro)
|
rs774610098
|
0.00001
|
NM_002693.3(POLG):c.1433+2T>C
|
rs920850257
|
0.00001
|
NM_002693.3(POLG):c.1721G>A (p.Arg574Gln)
|
rs764287987
|
0.00001
|
NM_002693.3(POLG):c.2558G>A (p.Arg853Gln)
|
rs796052888
|
0.00001
|
NM_002693.3(POLG):c.2573C>T (p.Thr858Ile)
|
rs759128787
|
0.00001
|
NM_002693.3(POLG):c.2620T>A (p.Leu874Met)
|
rs758402960
|
0.00001
|
NM_002693.3(POLG):c.2657T>C (p.Leu886Pro)
|
rs769210629
|
0.00001
|
NM_002693.3(POLG):c.2698G>A (p.Ala900Thr)
|
rs935602068
|
0.00001
|
NM_002693.3(POLG):c.2799T>G (p.Ser933Arg)
|
rs765916932
|
0.00001
|
NM_002693.3(POLG):c.3104+2T>A
|
rs747632869
|
0.00001
|
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)
|
rs140079523
|
0.00001
|
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)
|
rs761649878
|
0.00001
|
NM_002693.3(POLG):c.3317T>C (p.Val1106Ala)
|
rs1354582663
|
0.00001
|
NM_002693.3(POLG):c.3406G>A (p.Glu1136Lys)
|
rs56047213
|
0.00001
|
NM_002693.3(POLG):c.3408G>C (p.Glu1136Asp)
|
rs755725702
|
0.00001
|
NM_002693.3(POLG):c.3483-4_3497del
|
rs756325504
|
0.00001
|
NM_002693.3(POLG):c.3505G>A (p.Gly1169Ser)
|
rs753864625
|
0.00001
|
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)
|
rs776031396
|
0.00001
|
NM_002693.3(POLG):c.3542G>A (p.Ser1181Asn)
|
rs149921636
|
0.00001
|
NM_002693.3(POLG):c.3640C>T (p.Gln1214Ter)
|
rs781256643
|
0.00001
|
NM_002693.3(POLG):c.730C>G (p.Leu244Val)
|
rs367959489
|
0.00001
|
NM_002693.3(POLG):c.915C>G (p.Ser305Arg)
|
rs769410130
|
0.00001
|
NM_002693.3(POLG):c.955A>G (p.Lys319Glu)
|
rs766465907
|
0.00001
|
NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)
|
rs1303074743
|
0.00001
|
NM_002857.4(PEX19):c.346+1G>A
|
rs75072667
|
0.00001
|
NM_003042.4(SLC6A1):c.593A>G (p.His198Arg)
|
rs1697439559
|
0.00001
|
NM_003072.5(SMARCA4):c.3922C>T (p.Arg1308Trp)
|
rs587779750
|
0.00001
|
NM_003179.3(SYP):c.2T>C (p.Met1Thr)
|
rs1557103814
|
0.00001
|
NM_003383.5(VLDLR):c.1666C>T (p.Arg556Ter)
|
rs141396971
|
0.00001
|
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln)
|
rs773138218
|
0.00001
|
NM_003384.3(VRK1):c.889+1G>T
|
rs1482696609
|
0.00001
|
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala)
|
rs756023441
|
0.00001
|
NM_003477.3(PDHX):c.1336C>T (p.Arg446Ter)
|
rs1135402725
|
0.00001
|
NM_003491.4(NAA10):c.469G>A (p.Glu157Lys)
|
rs1557107264
|
0.00001
|
NM_003560.4(PLA2G6):c.1061T>C (p.Leu354Pro)
|
rs1403125636
|
0.00001
|
NM_003560.4(PLA2G6):c.1077G>A (p.Ser359=)
|
rs368497893
|
0.00001
|
NM_003560.4(PLA2G6):c.1427+1G>A
|
rs750939090
|
0.00001
|
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp)
|
rs587784350
|
0.00001
|
NM_003587.5(DHX16):c.1744T>A (p.Phe582Ile)
|
rs1582940678
|
0.00001
|
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg)
|
rs1057523689
|
0.00001
|
NM_003640.5(ELP1):c.1361-1G>T
|
rs372225464
|
0.00001
|
NM_003640.5(ELP1):c.2824C>T (p.Arg942Ter)
|
rs761911009
|
0.00001
|
NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter)
|
rs762224071
|
0.00001
|
NM_003774.5(GALNT4):c.1194C>T (p.Asn398=)
|
rs863223348
|
0.00001
|
NM_003793.4(CTSF):c.1045+1G>T
|
rs1456291681
|
0.00001
|
NM_003846.3(PEX11B):c.1A>G (p.Met1Val)
|
rs782262926
|
0.00001
|
NM_003846.3(PEX11B):c.595C>T (p.Arg199Ter)
|
rs781984979
|
0.00001
|
NM_004035.7(ACOX1):c.176G>C (p.Arg59Pro)
|
rs777937235
|
0.00001
|
NM_004035.7(ACOX1):c.538+1G>A
|
rs1466419887
|
0.00001
|
NM_004035.7(ACOX1):c.658+1G>T
|
rs779732414
|
0.00001
|
NM_004035.7(ACOX1):c.679G>A (p.Gly227Ser)
|
rs1002618350
|
0.00001
|
NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys)
|
rs766653950
|
0.00001
|
NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp)
|
rs146232504
|
0.00001
|
NM_004483.5(GCSH):c.1A>G (p.Met1Val)
|
rs886039730
|
0.00001
|
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His)
|
rs1204519015
|
0.00001
|
NM_004562.3(PRKN):c.1288G>A (p.Gly430Ser)
|
rs1226997153
|
0.00001
|
NM_004562.3(PRKN):c.1A>G (p.Met1Val)
|
rs772786691
|
0.00001
|
NM_004813.4(PEX16):c.679C>T (p.Arg227Trp)
|
rs1064794320
|
0.00001
|
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)
|
rs769772100
|
0.00001
|
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)
|
rs769471341
|
0.00001
|
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)
|
rs766478634
|
0.00001
|
NM_004977.3(KCNC3):c.1223A>G (p.Asp408Gly)
|
rs2037067131
|
0.00001
|
NM_005045.4(RELN):c.3912+2T>G
|
rs1226957030
|
0.00001
|
NM_005045.4(RELN):c.7349+2T>C
|
rs982831716
|
0.00001
|
NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)
|
rs185476065
|
0.00001
|
NM_005076.5(CNTN2):c.1241-1G>C
|
rs1553345874
|
0.00001
|
NM_005076.5(CNTN2):c.2432-2A>G
|
rs1196223064
|
0.00001
|
NM_005120.3(MED12):c.617G>A (p.Arg206Gln)
|
rs2092288110
|
0.00001
|
NM_005149.3(TBX19):c.206G>A (p.Arg69Gln)
|
rs1310982370
|
0.00001
|
NM_005149.3(TBX19):c.608C>T (p.Thr203Met)
|
rs748717639
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_005506.4(SCARB2):c.994+2T>C
|
rs1168653552
|
0.00001
|
NM_005529.7(HSPG2):c.4233C>T (p.Tyr1411=)
|
rs745452577
|
0.00001
|
NM_005654.6(NR2F1):c.1117C>T (p.Arg373Ter)
|
rs1297603674
|
0.00001
|
NM_005670.4(EPM2A):c.302-1G>C
|
rs369463720
|
0.00001
|
NM_005670.4(EPM2A):c.512G>A (p.Arg171His)
|
rs137852916
|
0.00001
|
NM_005787.6(ALG3):c.953C>T (p.Ser318Leu)
|
rs756802179
|
0.00001
|
NM_005862.3(STAG1):c.2936A>G (p.Lys979Arg)
|
rs1471479119
|
0.00001
|
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)
|
rs121913499
|
0.00001
|
NM_005896.4(IDH1):c.395G>A (p.Arg132His)
|
rs121913500
|
0.00001
|
NM_005957.5(MTHFR):c.416C>T (p.Thr139Met)
|
rs1057519360
|
0.00001
|
NM_006030.4(CACNA2D2):c.2234+1G>A
|
rs749539763
|
0.00001
|
NM_006214.4(PHYH):c.610G>A (p.Gly204Ser)
|
rs104894173
|
0.00001
|
NM_006245.4(PPP2R5D):c.758G>A (p.Arg253Gln)
|
rs1131691266
|
0.00001
|
NM_006261.5(PROP1):c.110-2A>G
|
rs1057516846
|
0.00001
|
NM_006261.5(PROP1):c.334C>T (p.Arg112Ter)
|
rs766673446
|
0.00001
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
NM_006279.5(ST3GAL3):c.1046C>T (p.Thr349Met)
|
rs1201878175
|
0.00001
|
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe)
|
rs911707459
|
0.00001
|
NM_006392.4(NOP56):c.909G>A (p.Ala303=)
|
rs1295942947
|
0.00001
|
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)
|
rs786205211
|
0.00001
|
NM_006493.4(CLN5):c.188G>A (p.Arg63His)
|
rs104894386
|
0.00001
|
NM_006516.4(SLC2A1):c.286A>G (p.Met96Val)
|
rs753161833
|
0.00001
|
NM_006565.4(CTCF):c.1168G>A (p.Asp390Asn)
|
rs750256116
|
0.00001
|
NM_006586.5(CNPY3):c.734_737del (p.Gln245fs)
|
rs1197219692
|
0.00001
|
NM_006618.5(KDM5B):c.2251C>T (p.Arg751Ter)
|
rs1287727763
|
0.00001
|
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter)
|
rs1558498928
|
0.00001
|
NM_006759.4(UGP2):c.34A>G (p.Met12Val)
|
rs768305634
|
0.00001
|
NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter)
|
rs1251881194
|
0.00001
|
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His)
|
rs1598820860
|
0.00001
|
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter)
|
rs764858363
|
0.00001
|
NM_006859.4(LIAS):c.954+1G>A
|
rs965952835
|
0.00001
|
NM_006946.4(SPTBN2):c.1843C>T (p.Arg615Trp)
|
rs1207850001
|
0.00001
|
NM_006950.3(SYN1):c.1258C>T (p.Arg420Trp)
|
rs780269723
|
0.00001
|
NM_006950.3(SYN1):c.1259G>A (p.Arg420Gln)
|
rs941190653
|
0.00001
|
NM_007254.4(PNKP):c.1129G>A (p.Gly377Arg)
|
rs777457079
|
0.00001
|
NM_007254.4(PNKP):c.1188+1G>A
|
rs1057518102
|
0.00001
|
NM_007254.4(PNKP):c.1298+1_1298+10del
|
rs1568658916
|
0.00001
|
NM_007262.5(PARK7):c.460A>G (p.Thr154Ala)
|
rs1472900688
|
0.00001
|
NM_007325.5(GRIA3):c.1348C>T (p.Arg450Ter)
|
rs183018401
|
0.00001
|
NM_007327.4(GRIN1):c.1198-2del
|
rs1212517874
|
0.00001
|
NM_012062.5(DNM1L):c.1596+2T>A
|
rs769684495
|
0.00001
|
NM_012216.4(MID2):c.1558G>A (p.Gly520Ser)
|
rs750972972
|
0.00001
|
NM_012424.6(RPS6KC1):c.2710G>A (p.Gly904Ser)
|
rs61751035
|
0.00001
|
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly)
|
rs760916142
|
0.00001
|
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)
|
rs121434440
|
0.00001
|
NM_014236.4(GNPAT):c.742C>T (p.Arg248Cys)
|
rs1442079596
|
0.00001
|
NM_014363.6(SACS):c.10136T>G (p.Leu3379Ter)
|
rs1057517250
|
0.00001
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
NM_014363.6(SACS):c.11624G>A (p.Arg3875His)
|
rs863224916
|
0.00001
|
NM_014363.6(SACS):c.1189_1190del (p.Ser397fs)
|
rs1057516625
|
0.00001
|
NM_014363.6(SACS):c.1201C>T (p.Arg401Ter)
|
rs769212398
|
0.00001
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
NM_014363.6(SACS):c.1869del (p.Arg624fs)
|
rs1006060877
|
0.00001
|
NM_014363.6(SACS):c.3066del (p.Asn1025fs)
|
rs1057516767
|
0.00001
|
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)
|
rs139805032
|
0.00001
|
NM_014363.6(SACS):c.3745C>T (p.Gln1249Ter)
|
rs1027429746
|
0.00001
|
NM_014363.6(SACS):c.434C>G (p.Ser145Ter)
|
rs994374354
|
0.00001
|
NM_014363.6(SACS):c.4744G>A (p.Asp1582Asn)
|
rs1160357920
|
0.00001
|
NM_014363.6(SACS):c.5122del (p.Ala1708fs)
|
rs1485885260
|
0.00001
|
NM_014363.6(SACS):c.5582G>A (p.Trp1861Ter)
|
rs946368716
|
0.00001
|
NM_014363.6(SACS):c.5629C>T (p.Arg1877Ter)
|
rs761089024
|
0.00001
|
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)
|
rs780184251
|
0.00001
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
NM_014363.6(SACS):c.8108G>A (p.Arg2703His)
|
rs750181262
|
0.00001
|
NM_014363.6(SACS):c.8132C>T (p.Ser2711Leu)
|
rs1213203489
|
0.00001
|
NM_014363.6(SACS):c.814C>T (p.Arg272Cys)
|
rs374128662
|
0.00001
|
NM_014363.6(SACS):c.9305T>A (p.Leu3102Ter)
|
rs886041949
|
0.00001
|
NM_014906.5(PPM1E):c.*1892T>A
|
rs1567903706
|
0.00001
|
NM_015009.3(PDZRN3):c.820G>A (p.Asp274Asn)
|
rs748809996
|
0.00001
|
NM_015046.7(SETX):c.202C>T (p.Arg68Cys)
|
rs771481623
|
0.00001
|
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter)
|
rs1169623576
|
0.00001
|
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr)
|
rs773379832
|
0.00001
|
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe)
|
rs121434380
|
0.00001
|
NM_015046.7(SETX):c.6897dup (p.Phe2300fs)
|
rs1331217337
|
0.00001
|
NM_015046.7(SETX):c.7447G>A (p.Gly2483Arg)
|
rs183776349
|
0.00001
|
NM_015046.7(SETX):c.994C>T (p.Arg332Trp)
|
rs29001665
|
0.00001
|
NM_015107.3(PHF8):c.1731-2A>G
|
rs1437750762
|
0.00001
|
NM_015166.4(MLC1):c.136del (p.Cys46fs)
|
rs1057516766
|
0.00001
|
NM_015166.4(MLC1):c.178-10T>A
|
rs80358243
|
0.00001
|
NM_015166.4(MLC1):c.240G>A (p.Met80Ile)
|
rs281875310
|
0.00001
|
NM_015166.4(MLC1):c.249G>T (p.Leu83Phe)
|
rs1289520784
|
0.00001
|
NM_015166.4(MLC1):c.251G>A (p.Arg84His)
|
rs1425784992
|
0.00001
|
NM_015166.4(MLC1):c.278C>T (p.Ser93Leu)
|
rs80358245
|
0.00001
|
NM_015166.4(MLC1):c.321+1G>A
|
rs765879182
|
0.00001
|
NM_015166.4(MLC1):c.353C>T (p.Thr118Met)
|
rs281875316
|
0.00001
|
NM_015166.4(MLC1):c.423+1G>A
|
rs752428321
|
0.00001
|
NM_015166.4(MLC1):c.525+1G>A
|
rs769135961
|
0.00001
|
NM_015166.4(MLC1):c.714+1G>A
|
rs761620701
|
0.00001
|
NM_015166.4(MLC1):c.754dup (p.Cys252fs)
|
rs757250956
|
0.00001
|
NM_015166.4(MLC1):c.973C>T (p.Gln325Ter)
|
rs1057516465
|
0.00001
|
NM_015213.4(DENND5A):c.3629G>A (p.Arg1210Gln)
|
rs1057519564
|
0.00001
|
NM_015213.4(DENND5A):c.949+1G>A
|
rs1849592470
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter)
|
rs776941281
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
|
rs745413543
|
0.00001
|
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)
|
rs751444506
|
0.00001
|
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter)
|
rs201081228
|
0.00001
|
NM_015272.5(RPGRIP1L):c.230+1G>A
|
rs786204135
|
0.00001
|
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter)
|
rs1456208953
|
0.00001
|
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs)
|
rs990678342
|
0.00001
|
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
|
rs993394322
|
0.00001
|
NM_015272.5(RPGRIP1L):c.776+1G>A
|
rs771226563
|
0.00001
|
NM_015294.6(TRIM37):c.1411C>T (p.Arg471Ter)
|
rs386834001
|
0.00001
|
NM_015294.6(TRIM37):c.227T>C (p.Leu76Pro)
|
rs386834004
|
0.00001
|
NM_015294.6(TRIM37):c.860G>A (p.Ser287Asn)
|
rs386834008
|
0.00001
|
NM_015330.6(SPECC1L):c.1900C>T (p.Arg634Ter)
|
rs200870836
|
0.00001
|
NM_015338.6(ASXL1):c.1015C>T (p.Gln339Ter)
|
rs2011567269
|
0.00001
|
NM_015338.6(ASXL1):c.643G>A (p.Ala215Thr)
|
rs2011469389
|
0.00001
|
NM_015378.4(VPS13D):c.946C>T (p.Arg316Ter)
|
rs758368974
|
0.00001
|
NM_015426.5(POC1A):c.241C>T (p.Arg81Ter)
|
rs397514487
|
0.00001
|
NM_015509.4(NECAP1):c.142C>T (p.Arg48Ter)
|
rs587777420
|
0.00001
|
NM_015557.3(CHD5):c.5141A>G (p.Glu1714Gly)
|
rs781200968
|
0.00001
|
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)
|
rs778260923
|
0.00001
|
NM_016023.5(OTUD6B):c.839C>T (p.Ser280Leu)
|
rs1391158579
|
0.00001
|
NM_016042.4(EXOSC3):c.572G>A (p.Gly191Asp)
|
rs797045567
|
0.00001
|
NM_016188.5(ACTL6B):c.1225del (p.Ser409fs)
|
rs774562545
|
0.00001
|
NM_016188.5(ACTL6B):c.740G>A (p.Trp247Ter)
|
rs1562848556
|
0.00001
|
NM_016188.5(ACTL6B):c.893G>A (p.Arg298Gln)
|
rs1060499738
|
0.00001
|
NM_016219.5(MAN1B1):c.1942C>T (p.Gln648Ter)
|
rs1164484724
|
0.00001
|
NM_016373.4(WWOX):c.605+5G>A
|
rs1039151413
|
0.00001
|
NM_016464.5(TMEM138):c.128+5G>A
|
rs917404097
|
0.00001
|
NM_016529.6(ATP8A2):c.1058-2A>G
|
rs1304832284
|
0.00001
|
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter)
|
rs1304109530
|
0.00001
|
NM_016529.6(ATP8A2):c.1756C>T (p.Arg586Ter)
|
rs755133567
|
0.00001
|
NM_016529.6(ATP8A2):c.3272+1G>A
|
rs779337270
|
0.00001
|
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)
|
rs564185858
|
0.00001
|
NM_017721.5(CC2D1A):c.511_513+1del
|
rs777057767
|
0.00001
|
NM_017739.4(POMGNT1):c.1100G>A (p.Arg367His)
|
rs762972459
|
0.00001
|
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter)
|
rs756853299
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs)
|
rs386834051
|
0.00001
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys)
|
rs1451777867
|
0.00001
|
NM_017882.3(CLN6):c.199-2A>G
|
rs1471253353
|
0.00001
|
NM_017882.3(CLN6):c.307C>T (p.Arg103Trp)
|
rs201095412
|
0.00001
|
NM_017882.3(CLN6):c.486+1G>A
|
rs756522171
|
0.00001
|
NM_017882.3(CLN6):c.679G>A (p.Glu227Lys)
|
rs746753722
|
0.00001
|
NM_017882.3(CLN6):c.767A>G (p.Asp256Gly)
|
rs143781303
|
0.00001
|
NM_017882.3(CLN6):c.837G>A (p.Trp279Ter)
|
rs1555438212
|
0.00001
|
NM_017882.3(CLN6):c.84-1G>A
|
rs1064796787
|
0.00001
|
NM_017882.3(CLN6):c.896C>T (p.Pro299Leu)
|
rs758921701
|
0.00001
|
NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)
|
rs559590419
|
0.00001
|
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)
|
rs765998879
|
0.00001
|
NM_018075.5(ANO10):c.1163-9A>G
|
rs1368543726
|
0.00001
|
NM_018129.4(PNPO):c.284G>A (p.Arg95His)
|
rs552833222
|
0.00001
|
NM_018129.4(PNPO):c.685C>T (p.Arg229Trp)
|
rs104894629
|
0.00001
|
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
|
rs773432002
|
0.00001
|
NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)
|
rs142500730
|
0.00001
|
NM_018489.3(ASH1L):c.5269C>T (p.Arg1757Ter)
|
rs1662320308
|
0.00001
|
NM_018718.3(CEP41):c.278-1G>A
|
rs1796956272
|
0.00001
|
NM_018718.3(CEP41):c.942_943del (p.Glu315fs)
|
rs1584867379
|
0.00001
|
NM_018896.5(CACNA1G):c.481A>T (p.Ile161Phe)
|
rs368561457
|
0.00001
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
NM_018941.4(CLN8):c.283A>T (p.Lys95Ter)
|
rs759830733
|
0.00001
|
NM_018941.4(CLN8):c.473A>G (p.Tyr158Cys)
|
rs386834130
|
0.00001
|
NM_018941.4(CLN8):c.509C>T (p.Thr170Met)
|
rs188259026
|
0.00001
|
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys)
|
rs104894060
|
0.00001
|
NM_018941.4(CLN8):c.611G>A (p.Arg204His)
|
rs386834134
|
0.00001
|
NM_018941.4(CLN8):c.709G>A (p.Gly237Arg)
|
rs746645358
|
0.00001
|
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)
|
rs587779411
|
0.00001
|
NM_019023.5(PRMT7):c.1220G>A (p.Cys407Tyr)
|
rs1313637057
|
0.00001
|
NM_019023.5(PRMT7):c.1323+2T>G
|
rs1339009950
|
0.00001
|
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter)
|
rs372375423
|
0.00001
|
NM_019597.5(HNRNPH2):c.85C>T (p.Arg29Cys)
|
rs1555988314
|
0.00001
|
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp)
|
rs756789619
|
0.00001
|
NM_020247.5(COQ8A):c.588+1G>C
|
rs1474965033
|
0.00001
|
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp)
|
rs119468005
|
0.00001
|
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter)
|
rs749969789
|
0.00001
|
NM_020821.3(VPS13C):c.8806C>T (p.Arg2936Ter)
|
rs148074630
|
0.00001
|
NM_020822.3(KCNT1):c.73C>T (p.Arg25Trp)
|
rs775807509
|
0.00001
|
NM_020822.3(KCNT1):c.784C>T (p.Arg262Trp)
|
rs375711140
|
0.00001
|
NM_020843.4(SCAPER):c.2377C>T (p.Gln793Ter)
|
rs1239725461
|
0.00001
|
NM_021008.4(DEAF1):c.671G>A (p.Arg224Gln)
|
rs1415420832
|
0.00001
|
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)
|
rs1375601977
|
0.00001
|
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp)
|
rs386834146
|
0.00001
|
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp)
|
rs374997012
|
0.00001
|
NM_022041.4(GAN):c.1055A>G (p.Asn352Ser)
|
rs779203584
|
0.00001
|
NM_022089.4(ATP13A2):c.1657C>T (p.Arg553Ter)
|
rs1264582344
|
0.00001
|
NM_022089.4(ATP13A2):c.1845+1G>A
|
rs2076970587
|
0.00001
|
NM_022089.4(ATP13A2):c.2529+1G>A
|
rs776448394
|
0.00001
|
NM_022124.6(CDH23):c.1752+1G>A
|
rs1347367555
|
0.00001
|
NM_022124.6(CDH23):c.4206+1G>A
|
rs1204500829
|
0.00001
|
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)
|
rs773004408
|
0.00001
|
NM_022124.6(CDH23):c.5712G>A (p.Thr1904=)
|
rs397517342
|
0.00001
|
NM_022124.6(CDH23):c.6049G>A (p.Gly2017Ser)
|
rs183431253
|
0.00001
|
NM_022124.6(CDH23):c.6614C>T (p.Pro2205Leu)
|
rs397517349
|
0.00001
|
NM_022124.6(CDH23):c.7145G>A (p.Arg2382Gln)
|
rs759439688
|
0.00001
|
NM_022124.6(CDH23):c.7899C>G (p.Tyr2633Ter)
|
rs1375264465
|
0.00001
|
NM_022124.6(CDH23):c.805C>T (p.Arg269Trp)
|
rs936479651
|
0.00001
|
NM_022124.6(CDH23):c.8146del (p.Asp2716fs)
|
rs1564804195
|
0.00001
|
NM_022336.4(EDAR):c.265C>T (p.Arg89Cys)
|
rs780424781
|
0.00001
|
NM_022786.3(ARV1):c.175-2A>G
|
rs1294383261
|
0.00001
|
NM_022786.3(ARV1):c.363_364del (p.Ser122fs)
|
rs769858809
|
0.00001
|
NM_024072.4(DDX54):c.58T>A (p.Trp20Arg)
|
rs774035439
|
0.00001
|
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)
|
rs201010803
|
0.00001
|
NM_024818.6(UBA5):c.684G>A (p.Ala228=)
|
rs1313071575
|
0.00001
|
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter)
|
rs1361547443
|
0.00001
|
NM_024989.4(PGAP1):c.2286+1G>A
|
rs1406991265
|
0.00001
|
NM_025114.4(CEP290):c.1711+1G>A
|
rs587783009
|
0.00001
|
NM_025114.4(CEP290):c.2T>A (p.Met1Lys)
|
rs368984997
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025114.4(CEP290):c.6358-1G>A
|
rs766670248
|
0.00001
|
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter)
|
rs1374014119
|
0.00001
|
NM_025243.4(SLC19A3):c.111del (p.Tyr38fs)
|
rs1559252723
|
0.00001
|
NM_031157.4(HNRNPA1):c.949A>G (p.Asn317Asp)
|
rs483353023
|
0.00001
|
NM_031307.4(PUS3):c.497G>A (p.Arg166Gln)
|
rs200876642
|
0.00001
|
NM_032119.4(ADGRV1):c.9214G>A (p.Gly3072Ser)
|
rs757560169
|
0.00001
|
NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala)
|
rs782072593
|
0.00001
|
NM_032656.4(DHX37):c.1145A>G (p.Asp382Gly)
|
rs1424699115
|
0.00001
|
NM_032656.4(DHX37):c.3281C>T (p.Thr1094Met)
|
rs1277857720
|
0.00001
|
NM_032756.4(HPDL):c.788C>T (p.Thr263Met)
|
rs116004018
|
0.00001
|
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter)
|
rs752764598
|
0.00001
|
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter)
|
rs1896432430
|
0.00001
|
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys)
|
rs121912642
|
0.00001
|
NM_058246.4(DNAJB6):c.577A>G (p.Thr193Ala)
|
rs770053224
|
0.00001
|
NM_138775.3(ALKBH8):c.1421_1429del (p.His474_Ala477delinsPro)
|
rs1565312540
|
0.00001
|
NM_139058.3(ARX):c.1444G>A (p.Gly482Ser)
|
rs1468724042
|
0.00001
|
NM_145239.3(PRRT2):c.955G>T (p.Val319Leu)
|
rs945627261
|
0.00001
|
NM_152296.5(ATP1A3):c.7-2A>C
|
rs1555866356
|
0.00001
|
NM_152564.5(VPS13B):c.10061+1G>A
|
rs1200459145
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.10867+1G>A
|
rs780902262
|
0.00001
|
NM_152564.5(VPS13B):c.11094_11097dup (p.Arg3700fs)
|
rs386834059
|
0.00001
|
NM_152564.5(VPS13B):c.11501del (p.Met3834fs)
|
rs1394681818
|
0.00001
|
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)
|
rs747217399
|
0.00001
|
NM_152564.5(VPS13B):c.11746-1G>A
|
rs372327659
|
0.00001
|
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter)
|
rs933746831
|
0.00001
|
NM_152564.5(VPS13B):c.147+1G>A
|
rs1057517029
|
0.00001
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
NM_152564.5(VPS13B):c.2824+2T>C
|
rs141703746
|
0.00001
|
NM_152564.5(VPS13B):c.3082+2T>C
|
rs1188811827
|
0.00001
|
NM_152564.5(VPS13B):c.3083-2A>C
|
rs1456528242
|
0.00001
|
NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)
|
rs386834080
|
0.00001
|
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)
|
rs386834086
|
0.00001
|
NM_152564.5(VPS13B):c.4745+1G>A
|
rs1469729130
|
0.00001
|
NM_152564.5(VPS13B):c.4746-1G>C
|
rs768342041
|
0.00001
|
NM_152564.5(VPS13B):c.4949+2T>C
|
rs761273297
|
0.00001
|
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter)
|
rs386834093
|
0.00001
|
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)
|
rs780598553
|
0.00001
|
NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter)
|
rs1057516633
|
0.00001
|
NM_152564.5(VPS13B):c.5678_5679del (p.Leu1893fs)
|
rs886041586
|
0.00001
|
NM_152564.5(VPS13B):c.5752C>T (p.Arg1918Ter)
|
rs386834099
|
0.00001
|
NM_152564.5(VPS13B):c.5772dup (p.Gln1925fs)
|
rs754016783
|
0.00001
|
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter)
|
rs371364257
|
0.00001
|
NM_152564.5(VPS13B):c.6295_6296del (p.Met2099fs)
|
rs748404277
|
0.00001
|
NM_152564.5(VPS13B):c.6947A>G (p.Tyr2316Cys)
|
rs386834104
|
0.00001
|
NM_152564.5(VPS13B):c.7051-1G>A
|
rs930144563
|
0.00001
|
NM_152564.5(VPS13B):c.7429+1G>A
|
rs386834106
|
0.00001
|
NM_152564.5(VPS13B):c.7528C>T (p.Arg2510Ter)
|
rs386834107
|
0.00001
|
NM_152564.5(VPS13B):c.7780-2A>C
|
rs1378196300
|
0.00001
|
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
|
rs386834110
|
0.00001
|
NM_152564.5(VPS13B):c.8097+1G>A
|
rs1813590716
|
0.00001
|
NM_152564.5(VPS13B):c.8397G>A (p.Trp2799Ter)
|
rs386834112
|
0.00001
|
NM_152564.5(VPS13B):c.8792+1G>T
|
rs1415714103
|
0.00001
|
NM_152617.4(RNF168):c.493C>T (p.Arg165Ter)
|
rs148275050
|
0.00001
|
NM_152701.5(ABCA13):c.11473+2T>C
|
rs797045205
|
0.00001
|
NM_152722.5(HEPACAM):c.803+1G>A
|
rs375712202
|
0.00001
|
NM_153033.5(KCTD7):c.172G>A (p.Gly58Arg)
|
rs750033880
|
0.00001
|
NM_153033.5(KCTD7):c.250C>T (p.Arg84Trp)
|
rs754476100
|
0.00001
|
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp)
|
rs387907260
|
0.00001
|
NM_153033.5(KCTD7):c.456G>A (p.Val152=)
|
rs796052686
|
0.00001
|
NM_153033.5(KCTD7):c.533C>T (p.Ala178Val)
|
rs368001837
|
0.00001
|
NM_153033.5(KCTD7):c.541C>T (p.Arg181Trp)
|
rs750770298
|
0.00001
|
NM_153033.5(KCTD7):c.550C>T (p.Arg184Cys)
|
rs387907246
|
0.00001
|
NM_153033.5(KCTD7):c.551G>A (p.Arg184His)
|
rs747676224
|
0.00001
|
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)
|
rs1007848349
|
0.00001
|
NM_153252.5(BRWD3):c.4255T>G (p.Leu1419Val)
|
rs863224851
|
0.00001
|
NM_153704.6(TMEM67):c.1353del (p.Glu452fs)
|
rs749435317
|
0.00001
|
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)
|
rs775883520
|
0.00001
|
NM_153704.6(TMEM67):c.769A>G (p.Met257Val)
|
rs863225227
|
0.00001
|
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter)
|
rs769957689
|
0.00001
|
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro)
|
rs1553259602
|
0.00001
|
NM_153816.6(SNX14):c.252C>G (p.Tyr84Ter)
|
rs1171657935
|
0.00001
|
NM_172107.4(KCNQ2):c.1588G>A (p.Glu530Lys)
|
rs897976020
|
0.00001
|
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met)
|
rs794727134
|
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.202C>T (p.Pro68Ser)
|
rs746055240
|
0.00001
|
NM_177550.5(SLC13A5):c.425C>T (p.Thr142Met)
|
rs761917087
|
0.00001
|
NM_177550.5(SLC13A5):c.548-2A>G
|
rs966681982
|
0.00001
|
NM_182961.4(SYNE1):c.12528+1G>A
|
rs1012514808
|
0.00001
|
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter)
|
rs752224921
|
0.00001
|
NM_182961.4(SYNE1):c.26098C>T (p.Arg8700Ter)
|
rs1193193335
|
0.00001
|
NM_182961.4(SYNE1):c.6723+1G>C
|
rs779302145
|
0.00001
|
NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter)
|
rs780991031
|
0.00001
|
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)
|
rs758361736
|
0.00001
|
NM_198586.3(NHLRC1):c.204C>A (p.Cys68Ter)
|
rs769144119
|
0.00001
|
NM_198904.4(GABRG2):c.1000G>A (p.Ala334Thr)
|
rs398123523
|
0.00001
|
NM_198904.4(GABRG2):c.530G>A (p.Arg177Gln)
|
rs1445637165
|
0.00001
|
NM_198904.4(GABRG2):c.631+1254C>T
|
rs886645578
|
0.00001
|
NM_198904.4(GABRG2):c.666G>A (p.Trp222Ter)
|
rs1761617556
|
0.00001
|
NM_198994.3(TGM6):c.1005G>A (p.Trp335Ter)
|
rs750743855
|
0.00001
|
NM_203446.3(SYNJ1):c.1201-2A>G
|
rs1569086116
|
0.00001
|
10q21.3duplication
|
|
|
16q24.1duplication
|
|
|
1q41 duplication
|
|
|
20p12.1duplication
|
|
|
2q14.3duplication
|
|
|
2q24.3deletion
|
|
|
46,XX,der(1)(q44,q44).seq[GRCh37/hg19]der(1)(1pter->1q44(+)(244867200)::TCGCC{5}::q44(-)(246816211),q44(-)(2460642{39-40})::CGG...CCC{49}::q44(+)(246569872)->1qter)
|
|
|
46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn
|
|
|
46;XX;t(10;14)(p13;q21)dn
|
|
|
46;XX;t(1;19)(p34.1;p13.1)dn
|
|
|
46;XX;t(1;5)(p31;q33)dn
|
|
|
46;XY;inv(14)(q13q24.1)
|
|
|
46;XY;inv(7)(p15q34)mat
|
|
|
46;XY;t(1;12)(p32;p13)dn
|
|
|
46;XY;t(2;14)(p22;q24.3)dn
|
|
|
46;XY;t(5;7)(q14.3;q21.3)dn
|
|
|
4q35.2deletion
|
|
|
5p15.31duplication
|
|
|
6p22.3duplication
|
|
|
6q23.3deletion
|
|
|
7q31.1duplication
|
|
|
8q24.13duplication
|
|
|
8q24.3duplication
|
|
|
9q21.13 deletion
|
|
|
GRCh37/hg19 12q24.21(chr12:116528514-116605811)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:14927857-16537664)
|
|
|
GRCh37/hg19 16p13.11-12.3(chr16:15316618-18770833)
|
|
|
GRCh37/hg19 16q23.1(chr16:78198080-78198186)
|
|
|
GRCh37/hg19 20q13.33(chr20:61038552-62907579)
|
|
|
GRCh37/hg19 20q13.33(chr20:61041481-62680992)
|
|
|
GRCh37/hg19 20q13.33(chr20:61273854-62907579)
|
|
|
GRCh37/hg19 20q13.33(chr20:61826780-62660844)
|
|
|
GRCh37/hg19 20q13.33(chr20:61944468-62104030)
|
|
|
GRCh37/hg19 20q13.33(chr20:61974574-62078190)
|
|
|
GRCh37/hg19 20q13.33(chr20:61974574-62129187)
|
|
|
GRCh37/hg19 20q13.33(chr20:61986847-62055559)
|
|
|
GRCh37/hg19 20q13.33(chr20:61986847-62224435)
|
|
|
GRCh37/hg19 20q13.33(chr20:62069977-62129187)
|
|
|
GRCh37/hg19 22q11.22(chr22:22320654-22566334)x1
|
|
|
GRCh37/hg19 22q12.2-12.3(chr22:32134323-32243003)x1
|
|
|
GRCh37/hg19 2q23.1(chr2:149220152-149633312)
|
|
|
GRCh37/hg19 3p26.3-26.1(chr3:73914-4331711)
|
|
|
GRCh37/hg19 3q22.1-22.3(chr3:132642704-136360844)x1
|
|
|
GRCh37/hg19 3q26.31-26.32(chr3:175507453-177095072)
|
|
|
GRCh37/hg19 4p12-11(chr4:45868775-48273513)x3
|
|
|
GRCh37/hg19 4q31.23(chr4:148911418-149103259)
|
|
|
GRCh37/hg19 6q16.1(chr6:96028232-97247130)x1
|
|
|
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
|
|
|
GRCh37/hg19 6q26(chr6:162206818-162206900)
|
|
|
GRCh37/hg19 6q26(chr6:162475128-162475157)
|
|
|
GRCh37/hg19 6q26(chr6:162683576-162683772)
|
|
|
GRCh37/hg19 6q26(chr6:162864400-162864441)
|
|
|
GRCh37/hg19 7q21.3(chr7:95931567-97254397)x1
|
|
|
GRCh37/hg19 8q22.2(chr8:99096530-99142877)x4
|
|
|
GRCh37/hg19 Xp22.11-21.3(chrX:24823572-25117528)x2
|
|
|
GRCh37/hg19 Xq24(chrX:118544103-118676607)x0
|
|
|
GRCh37/hg19 Xq24(chrX:119660616-119681095)x1
|
|
|
GRCh37/hg19 Xq25-28(chrX:122132166-155097214)
|
|
|
GRCh37/hg19 Xq28(chrX:148882560-149686856)x2
|
|
|
GRCh37/hg19 Xq28(chrX:153560562-153864851)x3
|
|
|
GRCh38/hg38 17p13.3(chr17:2500691-2687314)
|
|
|
GRCh38/hg38 2p16.3(chr2:50590007-50802034)
|
|
|
GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1
|
|
|
GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1
|
|
|
GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1
|
|
|
GRCh38/hg38 5q23.1(chr5:119555413-119745470)
|
|
|
GRCh38/hg38 6q25.3(chr6:157179172-157184916)x1
|
|
|
GRCh38/hg38 Xq12(chrX:68203479-68224263)x2
|
|
|
GRCh38/hg38 Xq28(chrX:152819425-152869723)
|
|
|
Multiple alleles
|
|
|
NC_000001.10:g.(?_206516175)_(206567055_?)dup
|
|
|
NC_000001.10:g.(?_206579711)_(206634815_?)dup
|
|
|
NC_000001.10:g.(?_20974682)_(20975609_?)del
|
|
|
NC_000001.10:g.(?_2337205)_(2338414_?)del
|
|
|
NC_000001.10:g.(?_245025750)_(245027576_?)del
|
|
|
NC_000001.10:g.(?_44257753)_(44365419_?)dup
|
|
|
NC_000001.10:g.(?_44360035)_(44482805_?)del
|
|
|
NC_000001.10:g.155183259_(155210558_155210826)del
|
|
|
NC_000001.11:g.(?_103175204)_(111410059_?)del
|
|
|
NC_000001.11:g.(?_109048899)_(109079629_?)del
|
|
|
NC_000001.11:g.(?_145601945)_(146048346_?)del
|
|
|
NC_000001.11:g.(?_204033173)_(208209798_?)del
|
|
|
NC_000001.11:g.(?_231740970)_(231949671_?)del
|
|
|
NC_000001.11:g.(?_7969325)_(7969424_?)del
|
|
|
NC_000001.11:g.153812287_153823987del
|
|
|
NC_000002.11:g.(228560798_228563451)_228563704del
|
|
|
NC_000002.11:g.(?_110880912)_(110886837_110889255)del
|
|
|
NC_000002.11:g.(?_149267619)_(149267714_?)dup
|
|
|
NC_000002.11:g.(?_166152283)_(166246384_?)dup
|
|
|
NC_000002.11:g.(?_166210682)_(166211201_?)del
|
|
|
NC_000002.11:g.(?_166237239)_(166239066_?)del
|
|
|
NC_000002.11:g.(?_166847704)_(166930181_?)dup
|
|
|
NC_000002.11:g.(?_166847976)_(166851014_?)del
|
|
|
NC_000002.11:g.(?_167055131)_(167168316_?)dup
|
|
|
NC_000002.11:g.(?_167119087)_(167129240_?)del
|
|
|
NC_000002.11:g.(?_200213424)_(200246543_?)dup
|
|
|
NC_000002.11:g.(?_200320572)_(200320780_?)dup
|
|
|
NC_000002.11:g.(?_219679083)_(219679753_?)del
|
|
|
NC_000002.11:g.(?_219679093)_(219679763_?)del
|
|
|
NC_000002.12:g.(?_106445028)_(107839483_?)del
|
|
|
NC_000002.12:g.(?_11177745)_(16113827_?)del
|
|
|
NC_000002.12:g.(?_115503140)_(115527426_?)del
|
|
|
NC_000002.12:g.(?_130725519)_(131168548_?)del
|
|
|
NC_000002.12:g.(?_165342276)_(165389844_?)del
|
|
|
NC_000002.12:g.(?_177895779)_(177946731_?)del
|
|
|
NC_000002.12:g.(?_184830819)_(184884225_?)del
|
|
|
NC_000002.12:g.(?_1852302)_(2191394_?)dup
|
|
|
NC_000002.12:g.(?_196588283)_(196600831_?)del
|
|
|
NC_000002.12:g.(?_199380344)_(199433534_?)dup
|
|
|
NC_000002.12:g.(?_205102232)_(205198713_?)del
|
|
|
NC_000002.12:g.(?_205264941)_(205497509_?)del
|
|
|
NC_000002.12:g.(?_235927172)_(236034017_?)del
|
|
|
NC_000002.12:g.(?_32528746)_(32559427_?)del
|
|
|
NC_000002.12:g.(?_96063558)_(97079140_?)del
|
|
|
NC_000003.11:g.(132438675_132440806)_132441126del
|
|
|
NC_000003.11:g.(41241162_41265511)_(41268844_41274831)del
|
|
|
NC_000003.11:g.(43640159_43641875)_(43647356_43663400)del
|
|
|
NC_000003.11:g.93714775_(93722753_93754174)del
|
|
|
NC_000003.12:g.(?_1133359)_(1192637_?)del
|
|
|
NC_000003.12:g.(?_1185337)_(1255844_?)del
|
|
|
NC_000003.12:g.(?_1204527)_(1310468_?)del
|
|
|
NC_000003.12:g.(?_1247669)_(1285156_?)del
|
|
|
NC_000003.12:g.(?_1264992)_(1295956_?)del
|
|
|
NC_000003.12:g.(?_187222939)_(194312782_?)del
|
|
|
NC_000003.12:g.(?_188343948)_(188435451_?)del
|
|
|
NC_000003.12:g.(?_188420063)_(188540464_?)del
|
|
|
NC_000003.12:g.(?_41609544)_(41811095_?)del
|
|
|
NC_000003.12:g.(?_41760954)_(41858293_?)del
|
|
|
NC_000003.12:g.(?_41803875)_(41849829_?)del
|
|
|
NC_000003.12:g.(?_49419700)_(49419798_?)dup
|
|
|
NC_000003.12:g.(?_60389119)_(60571624_?)del
|
|
|
NC_000003.12:g.(?_60408194)_(60672864_?)del
|
|
|
NC_000003.12:g.(?_60438915)_(60817364_?)del
|
|
|
NC_000003.12:g.(?_60501297)_(60591815_?)del
|
|
|
NC_000003.12:g.87310484C>T
|
rs606231411
|
|
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
|
|
|
NC_000004.11:g.(128859994_128861007)_(128865148_128870958)del
|
|
|
NC_000004.11:g.(128878748_128886226)_(128887140_?)del
|
|
|
NC_000004.11:g.(93511438_94006145)_(94006431_94031898)del
|
|
|
NC_000004.12:g.(?_148159332)_(148473475_?)del
|
|
|
NC_000004.12:g.(?_92590068)_(92732357_?)del
|
|
|
NC_000004.12:g.(?_92930845)_(93092974_?)del
|
|
|
NC_000005.10:g.(?_11567352)_(11629138_?)del
|
|
|
NC_000005.10:g.(?_119514971)_(119542004_?)del
|
|
|
NC_000005.10:g.(?_131428263)_(132208822_?)del
|
|
|
NC_000005.10:g.(?_162142144)_(162153388_?)del
|
|
|
NC_000005.9:g.(37108574_37115061)_(37196099_37198803)dup
|
|
|
NC_000005.9:g.(?_125880657)_(125882101_?)del
|
|
|
NC_000005.9:g.(?_125881996)_(125882111_?)dup
|
|
|
NC_000005.9:g.(?_125896755)_(125896836_?)del
|
|
|
NC_000005.9:g.(?_125904022)_(125905143_?)del
|
|
|
NC_000005.9:g.(?_161292707)_(161495132_?)del
|
|
|
NC_000005.9:g.(?_161520814)_(161531052_?)dup
|
|
|
NC_000005.9:g.(?_73992508)_(73992941_?)dup
|
|
|
NC_000005.9:g.154735732_155604899dup
|
|
|
NC_000005.9:g.155599390_155755985dup
|
|
|
NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
|
|
|
NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
|
|
|
NC_000006.11:g.(?_137187765)_(137191141_?)dup
|
|
|
NC_000006.11:g.(?_137191125)_(137199715_?)del
|
|
|
NC_000006.11:g.(?_152466612)_(152643033_?)dup
|
|
|
NC_000006.11:g.(?_152652198)_(152658654_?)del
|
|
|
NC_000006.11:g.(?_152716631)_(152765733_?)dup
|
|
|
NC_000006.11:g.(?_162683537)_(162683817_?)dup
|
|
|
NC_000006.11:g.(?_33393555)_(33393700_?)dup
|
|
|
NC_000006.11:g.(?_42931601)_(42937735_?)del
|
|
|
NC_000006.12:g.(?_161816395)_(162018868_?)del
|
|
|
NC_000006.12:g.(?_161933685)_(162059574_?)del
|
|
|
NC_000006.12:g.(?_161966350)_(162292493_?)del
|
|
|
NC_000006.12:g.(?_161982200)_(162323320_?)del
|
|
|
NC_000006.12:g.(?_162035873)_(162195188_?)del
|
|
|
NC_000006.12:g.(?_162036131)_(162191715_?)del
|
|
|
NC_000006.12:g.(?_162088360)_(162527858_?)del
|
|
|
NC_000006.12:g.(?_162144053)_(162229459_?)del
|
|
|
NC_000006.12:g.(?_162145541)_(162226576_?)del
|
|
|
NC_000006.12:g.(?_162151583)_(162270607_?)del
|
|
|
NC_000006.12:g.(?_162162293)_(162311859_?)del
|
|
|
NC_000006.12:g.(?_162166123)_(162288233_?)del
|
|
|
NC_000006.12:g.(?_162184117)_(162211182_?)del
|
|
|
NC_000006.12:g.(?_162194743)_(162324250_?)del
|
|
|
NC_000006.12:g.(?_162200873)_(162544554_?)del
|
|
|
NC_000006.12:g.(?_162222675)_(162297617_?)del
|
|
|
NC_000006.12:g.(?_162229459)_(162495982_?)del
|
|
|
NC_000006.12:g.(?_162265361)_(162429333_?)del
|
|
|
NC_000006.12:g.(?_162267721)_(162302278_?)del
|
|
|
NC_000006.12:g.(?_162290852)_(162564693_?)del
|
|
|
NC_000006.12:g.(?_162308970)_(162630627_?)del
|
|
|
NC_000006.12:g.(?_162332720)_(162499424_?)del
|
|
|
NC_000006.12:g.(?_162349019)_(162495982_?)del
|
|
|
NC_000006.12:g.(?_162411708)_(162476625_?)del
|
|
|
NC_000006.12:g.(?_162440726)_(162603304_?)del
|
|
|
NC_000006.12:g.(?_162609404)_(162813090_?)del
|
|
|
NC_000006.12:g.(?_57046622)_(57088889_?)del
|
|
|
NC_000006.12:g.(?_57046622)_(57092420_?)del
|
|
|
NC_000007.13:g.(?_66098242)_(66098451_?)dup
|
|
|
NC_000007.14:g.(?_103491380)_(103507508_?)del
|
|
|
NC_000007.14:g.(?_103589576)_(103610827_?)dup
|
|
|
NC_000007.14:g.(?_111777402)_(111865491_?)del
|
|
|
NC_000007.14:g.(?_146655407)_(146796363_?)del
|
|
|
NC_000007.14:g.(?_152454659)_(158705768_?)del
|
|
|
NC_000007.14:g.(?_153822158)_(153968005_?)del
|
|
|
NC_000007.14:g.(?_81478831)_(84097791_?)del
|
|
|
NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
|
|
|
NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
|
|
|
NC_000008.10:g.(42297172_42302163)_(42302281_42317413)del
|
|
|
NC_000008.10:g.(?_100108520)_(100205305_?)dup
|
|
|
NC_000008.10:g.(?_100108530)_(100182401_?)dup
|
|
|
NC_000008.10:g.(?_100123306)_(100133735_?)dup
|
|
|
NC_000008.10:g.(?_100157931)_(100160219_?)del
|
|
|
NC_000008.10:g.(?_100205094)_(100205295_?)dup
|
|
|
NC_000008.10:g.(?_100205094)_(100287492_?)dup
|
|
|
NC_000008.10:g.(?_100396426)_(100479872_?)dup
|
|
|
NC_000008.10:g.(?_100443755)_(100443902_?)dup
|
|
|
NC_000008.10:g.(?_100568668)_(100673729_?)dup
|
|
|
NC_000008.10:g.(?_100654029)_(100654736_?)dup
|
|
|
NC_000008.10:g.(?_100711743)_(100712170_?)del
|
|
|
NC_000008.10:g.(?_100778144)_(100779154_?)del
|
|
|
NC_000008.10:g.(?_100821583)_(100821778_?)del
|
|
|
NC_000008.10:g.(?_100821603)_(100821758_?)del
|
|
|
NC_000008.10:g.(?_100882993)_(100883945_?)dup
|
|
|
NC_000008.10:g.(?_42275320)_(42297172_42302163)del
|
|
|
NC_000008.10:g.(?_68018120)_(68071392_?)dup
|
|
|
NC_000008.10:g.(?_68024187)_(68044335_?)dup
|
|
|
NC_000008.11:g.(?_10252025)_(10336231_?)del
|
|
|
NC_000008.11:g.(?_1050516)_(1327901_?)del
|
|
|
NC_000008.11:g.(?_132180137)_(132186201_?)dup
|
|
|
NC_000008.11:g.(?_140417391)_(140444832_?)del
|
|
|
NC_000008.11:g.(?_2724493)_(4921893_?)del
|
|
|
NC_000008.11:g.(?_3873130)_(3959547_?)del
|
|
|
NC_000008.11:g.(?_3876145)_(3961401_?)del
|
|
|
NC_000008.11:g.(?_3876145)_(3967152_?)del
|
|
|
NC_000008.11:g.(?_3877806)_(3959547_?)del
|
|
|
NC_000008.11:g.(?_3914469)_(4157437_?)del
|
|
|
NC_000008.11:g.(?_4410048)_(4458635_?)del
|
|
|
NC_000008.11:g.(?_99047163)_(99227439_?)del
|
|
|
NC_000008.11:g.(?_99118484)_(99159135_?)del
|
|
|
NC_000008.11:g.(?_99134631)_(99511512_?)dup
|
|
|
NC_000008.11:g.(?_99192876)_(99209768_?)dup
|
|
|
NC_000008.11:g.(?_99209582)_(99275264_?)del
|
|
|
NC_000008.11:g.(?_9998540)_(10117911_?)del
|
|
|
NC_000009.11:g.(?_6550793)_(6550924_?)dup
|
|
|
NC_000009.11:g.(?_6550793)_(6558694_?)dup
|
|
|
NC_000009.11:g.(?_6558564)_(6559850_?)del
|
|
|
NC_000009.11:g.(?_6587131)_(6595129_?)dup
|
|
|
NC_000009.11:g.(?_6602089)_(6604804_?)del
|
|
|
NC_000009.12:g.(?_10000)_(400952_?)del
|
|
|
NC_000009.12:g.(?_116611967)_(116683530_?)del
|
|
|
NC_000009.12:g.(?_116634744)_(116742416_?)del
|
|
|
NC_000009.12:g.(?_116683530)_(116733612_?)del
|
|
|
NC_000009.12:g.(?_116683530)_(116876208_?)del
|
|
|
NC_000009.12:g.(?_127672031)_(127676773_?)del
|
|
|
NC_000009.12:g.(?_127678411)_(127690877_?)del
|
|
|
NC_000009.12:g.(?_6533007)_(6550924_?)del
|
|
|
NC_000009.12:g.(?_6558539)_(6558704_?)del
|
|
|
NC_000010.10:g.(?_104352329)_(104377195_?)dup
|
|
|
NC_000010.10:g.(?_78943159)_(78944694_?)dup
|
|
|
NC_000010.10:g.(?_78998319)_(79163801_?)dup
|
|
|
NC_000010.10:g.(?_95549836)_(95549947_?)del
|
|
|
NC_000010.11:g.(?_53976705)_(54036062_?)del
|
|
|
NC_000010.11:g.(?_54690788)_(54898513_?)del
|
|
|
NC_000010.11:g.(?_59792917)_(68231677_?)del
|
|
|
NC_000011.10:g.(?_31405793)_(31548667_?)del
|
|
|
NC_000011.10:g.(?_84114371)_(84650078_?)del
|
|
|
NC_000011.10:g.(?_84405313)_(84547789_?)del
|
|
|
NC_000011.10:g.(?_84809995)_(84986152_?)del
|
|
|
NC_000011.10:g.(?_84877230)_(84963429_?)del
|
|
|
NC_000011.10:g.(?_96535656)_(99184810_?)del
|
|
|
NC_000011.9:g.(34953032_34969052)_(34999730_35006116)del
|
|
|
NC_000011.9:g.(34988362_34991685)_(34991834_34999670)del
|
|
|
NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del
|
|
|
NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del
|
|
|
NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del
|
|
|
NC_000012.11:g.(124189236_124191272)_(124192951_?)del
|
|
|
NC_000012.11:g.(?_124155659)_(124184358_124189078)del
|
|
|
NC_000012.11:g.52199766_52388207del
|
|
|
NC_000012.12:g.(?_2687956)_(2741851_?)del
|
|
|
NC_000012.12:g.(?_28125337)_(28231096_?)del
|
|
|
NC_000013.11:g.(?_22968338)_(24323208_?)del
|
|
|
NC_000013.11:g.(?_35011654)_(35113567_?)del
|
|
|
NC_000013.11:g.(?_35060502)_(35507109_?)del
|
|
|
NC_000013.11:g.(?_76995053)_(76995238_?)dup
|
|
|
NC_000013.11:g.(?_87545067)_(87934031_?)del
|
|
|
NC_000013.11:g.76992041_76992352del
|
rs2154034211
|
|
NC_000014.8:g.(?_58896061)_(58899195_?)dup
|
|
|
NC_000014.8:g.(?_58910652)_(58917484_?)dup
|
|
|
NC_000014.8:g.(?_58949211)_(58949450_?)dup
|
|
|
NC_000014.8:g.(?_58951496)_(58953792_?)del
|
|
|
NC_000014.9:g.(?_33318664)_(33378429_?)del
|
|
|
NC_000014.9:g.(?_58448320)_(58450766_?)dup
|
|
|
NC_000015.10:g.(?_28821222)_(30470957_?)del
|
|
|
NC_000015.10:g.(?_72345446)_(72346710_?)del
|
|
|
NC_000015.9:g.(72636482_72637786)_(72639052_72640026)del
|
|
|
NC_000015.9:g.(?_30941572)_(32509926_?)del
|
|
|
NC_000015.9:g.(?_68500458)_(68504221_?)del
|
|
|
NC_000015.9:g.(?_68500468)_(68504211_?)del
|
|
|
NC_000015.9:g.(?_72637767)_(72639071_?)del
|
|
|
NC_000015.9:g.(?_72640007)_(72641620_?)dup
|
|
|
NC_000015.9:g.(?_93547827)_(93558159_?)dup
|
|
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NC_000016.10:g.(?_21928119)_(22428075_?)del
|
|
|
NC_000016.10:g.(?_29390980)_(30215610_?)dup
|
|
|
NC_000016.10:g.(?_29506378)_(30180574_?)del
|
|
|
NC_000016.10:g.(?_29506378)_(30180574_?)dup
|
|
|
NC_000016.10:g.(?_29602174)_(30178709_?)dup
|
|
|
NC_000016.10:g.(?_29685652)_(30180586_?)dup
|
|
|
NC_000016.10:g.(?_29824300)_(29826034_?)del
|
|
|
NC_000016.10:g.(?_3744874)_(3758992_?)del
|
|
|
NC_000016.10:g.(?_6316970)_(6317082_?)del
|
|
|
NC_000016.10:g.(?_6355716)_(6937802_?)del
|
|
|
NC_000016.10:g.(?_6360351)_(6582207_?)del
|
|
|
NC_000016.10:g.(?_6622570)_(6720408_?)del
|
|
|
NC_000016.10:g.(?_6631947)_(7029167_?)del
|
|
|
NC_000016.10:g.(?_6654578)_(6654675_?)del
|
|
|
NC_000016.10:g.(?_6759006)_(6789572_?)del
|
|
|
NC_000016.10:g.(?_6773909)_(6978067_?)del
|
|
|
NC_000016.10:g.(?_7029167)_(7099643_?)del
|
|
|
NC_000016.10:g.(?_78278583)_(78432772_?)del
|
|
|
NC_000016.10:g.(?_78432468)_(78432772_?)del
|
|
|
NC_000016.10:g.(?_79103200)_(79402155_?)del
|
|
|
NC_000016.10:g.(?_84593050)_(85516675_?)del
|
|
|
NC_000016.9:g.(180591_188148)_(188672_?)del
|
|
|
NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del
|
|
|
NC_000016.9:g.(?_138677)_(188266_?)dup
|
|
|
NC_000016.9:g.(?_139774)_(159866_?)del
|
|
|
NC_000016.9:g.(?_148123)_(169274_?)dup
|
|
|
NC_000016.9:g.(?_28488599)_(28495440_28497667)del
|
|
|
NC_000016.9:g.(?_3786017)_(3786836_?)dup
|
|
|
NC_000016.9:g.(?_3786631)_(3790570_?)dup
|
|
|
NC_000016.9:g.(?_3829526)_(3830870_?)del
|
|
|
NC_000016.9:g.(?_75575228)_(75579413_?)dup
|
|
|
NC_000016.9:g.(?_78148926)_(78166880_?)del
|
|
|
NC_000016.9:g.(?_78458747)_(78466669_?)dup
|
|
|
NC_000016.9:g.78159969_78320350del
|
|
|
NC_000017.10:g.(?_73944322)_(73944548_?)del
|
|
|
NC_000017.10:g.57075470_57235248del159779
|
|
|
NC_000017.11:g.(?_14178908)_(15518547_?)del
|
|
|
NC_000017.11:g.(?_14183541)_(15573247_?)del
|
|
|
NC_000017.11:g.(?_75946738)_(75957576_?)del
|
|
|
NC_000017.11:g.(?_75960205)_(75960385_?)dup
|
|
|
NC_000017.11:g.59664787del
|
rs1598226304
|
|
NC_000017.11:g.59679324_59702065del
|
|
|
NC_000018.10:g.(?_10000)_(1543845_?)del
|
|
|
NC_000018.10:g.(?_47026162)_(47075742_?)del
|
|
|
NC_000018.10:g.(?_7773472)_(8250054_?)del
|
|
|
NC_000019.10:g.(?_13259544)_(13259721_?)del
|
|
|
NC_000019.10:g.(?_17607118)_(17624457_?)del
|
|
|
NC_000019.9:g.(?_13340886)_(13342684_?)del
|
|
|
NC_000019.9:g.(?_13445172)_(13446743_?)dup
|
|
|
NC_000020.10:g.(?_62050952)_(62078210_?)del
|
|
|
NC_000020.10:g.(?_62062673)_(62065276_?)dup
|
|
|
NC_000020.10:g.(?_62069958)_(62070093_?)del
|
|
|
NC_000020.10:g.(?_62069958)_(62078210_?)dup
|
|
|
NC_000020.11:g.(?_14490624)_(14573076_?)del
|
|
|
NC_000020.11:g.(?_14631584)_(14707775_?)del
|
|
|
NC_000020.11:g.(?_14656734)_(14876708_?)del
|
|
|
NC_000020.11:g.(?_15307783)_(15453889_?)del
|
|
|
NC_000020.11:g.(?_25564868)_(25611357_?)del
|
|
|
NC_000020.11:g.(?_42232174)_(42274201_?)del
|
|
|
NC_000020.11:g.(?_42303583)_(42488707_?)del
|
|
|
NC_000020.11:g.(?_42461895)_(42648116_?)del
|
|
|
NC_000020.11:g.(?_42472130)_(42562200_?)del
|
|
|
NC_000020.11:g.(?_42526267)_(42726111_?)del
|
|
|
NC_000020.11:g.(?_42579501)_(42691367_?)del
|
|
|
NC_000020.11:g.(?_508451)_(508551_?)del
|
|
|
NC_000020.11:g.(?_63406624)_(63407395_?)del
|
|
|
NC_000021.8:g.(?_34029319)_(34031816_?)del
|
|
|
NC_000021.8:g.(?_38126547)_(38139606_?)del
|
|
|
NC_000021.8:g.(?_38868400)_(38884854_?)del
|
|
|
NC_000021.9:g.(?_37492997)_(37493183_?)del
|
|
|
NC_000021.9:g.(?_38981673)_(41568791_?)del
|
|
|
NC_000021.9:g.33542069_33544417del
|
|
|
NC_000022.10:g.(?_32156622)_(32162674_?)dup
|
|
|
NC_000022.10:g.(?_32179873)_(32266750_?)dup
|
|
|
NC_000022.10:g.(?_32210968)_(32211208_?)dup
|
|
|
NC_000022.10:g.(?_32217594)_(32219450_?)del
|
|
|
NC_000022.10:g.(?_32226416)_(32233136_?)del
|
|
|
NC_000022.10:g.(?_32253411)_(32275758_?)dup
|
|
|
NC_000022.10:g.32217598_(32218777_32229900)del
|
|
|
NC_000022.11:g.(?_20346735)_(21149007_?)del
|
|
|
NC_000022.11:g.(?_20346735)_(21277123_?)del
|
|
|
NC_000022.11:g.(?_20358985)_(21123588_?)del
|
|
|
NC_000022.11:g.(?_21956007)_(22224188_?)del
|
|
|
NC_000022.11:g.(?_21959229)_(22218520_?)del
|
|
|
NC_000022.11:g.(?_22638171)_(23320336_?)del
|
|
|
NC_000022.11:g.(?_31778079)_(31792837_?)del
|
|
|
NC_000022.11:g.(?_31901722)_(31901822_?)del
|
|
|
NC_000022.11:g.(?_32200123)_(32200234_?)del
|
|
|
NC_000023.10:g.(152882907_152991027)del
|
|
|
NC_000023.10:g.(152886255_152976269)del
|
|
|
NC_000023.10:g.(152982350_153041544)del
|
|
|
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
|
|
|
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
|
|
|
NC_000023.10:g.(?_153002694)_153020558del
|
|
|
NC_000023.10:g.(?_18582577)_(18627710_?)dup
|
|
|
NC_000023.10:g.(?_18582577)_(18631415_?)dup
|
|
|
NC_000023.10:g.(?_47432243)_(47436920_?)del
|
|
|
NC_000023.10:g.(?_62875364)_(62944601_?)del
|
|
|
NC_000023.10:g.(?_76937002)_(76972730_?)dup
|
|
|
NC_000023.10:g.(?_76953051)_(76954137_?)dup
|
|
|
NC_000023.10:g.(?_99596881)_(99597093_?)dup
|
|
|
NC_000023.10:g.11600773_12249902del649130
|
|
|
NC_000023.10:g.11633731_11797224del163494
|
|
|
NC_000023.10:g.[(?_29619835)_(29843303_?);(?_30646799)_(30848980_?)dup]
|
|
|
NC_000023.11:g.(18581559_18597843)dup
|
|
|
NC_000023.11:g.(?_155530103)_(155550495_?)del
|
|
|
NC_000023.11:g.(?_155531678)_(155556173_?)del
|
|
|
NC_000023.11:g.(?_31660226)_(31820401_?)del
|
|
|
NC_000023.11:g.(?_31774439)_(31859356_?)del
|
|
|
NC_000023.11:g.(?_32070396)_(32212245_?)del
|
|
|
NC_000023.11:g.(?_32345828)_(32377888_?)del
|
|
|
NC_000023.11:g.(?_44209146)_(46109507_?)del
|
|
|
NC_000023.11:g.(?_4692064)_(6048196_?)del
|
|
|
NC_000023.11:g.(?_621471)_(636910_?)del
|
|
|
NC_000023.11:g.(?_6526750)_(8172018_?)del
|
|
|
NC_000023.11:g.(?_6536927)_(8156323_?)del
|
|
|
NC_000023.11:g.(?_6776477)_(7923774_?)del
|
|
|
NC_000023.11:g.(?_80671287)_(80671570_?)dup
|
|
|
NC_000023.11:g.153694345del
|
rs1603217468
|
|
NC_000023.11:g.154031853_154031854ins77278664_77280319
|
|
|
NC_012920.1(MT-ATP6):m.9032T>C
|
rs1603221994
|
|
NC_012920.1(MT-ATP6):m.9049G>A
|
rs1603222011
|
|
NC_012920.1:m.15060G>A
|
rs1057516072
|
|
NC_012920.1:m.9237G>A
|
rs1057516064
|
|
NM_000021.4(PSEN1):c.1141C>T (p.Leu381Phe)
|
rs63750687
|
|
NM_000021.4(PSEN1):c.1276G>C (p.Ala426Pro)
|
rs63751223
|
|
NM_000021.4(PSEN1):c.252G>C (p.Met84Ile)
|
|
|
NM_000021.4(PSEN1):c.308T>G (p.Val103Gly)
|
rs1897876766
|
|
NM_000021.4(PSEN1):c.338+7A>G
|
rs1897878139
|
|
NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro)
|
rs63751399
|
|
NM_000021.4(PSEN1):c.403A>G (p.Asn135Asp)
|
rs63750353
|
|
NM_000021.4(PSEN1):c.427A>G (p.Ile143Val)
|
|
|
NM_000021.4(PSEN1):c.626G>A (p.Gly209Glu)
|
rs63750053
|
|
NM_000021.4(PSEN1):c.649G>C (p.Gly217Arg)
|
rs267606983
|
|
NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)
|
rs63749836
|
|
NM_000021.4(PSEN1):c.745A>T (p.Ile249Phe)
|
rs1362575880
|
|
NM_000021.4(PSEN1):c.779C>G (p.Ala260Gly)
|
|
|
NM_000021.4(PSEN1):c.782T>C (p.Val261Ala)
|
rs199723282
|
|
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)
|
rs63750779
|
|
NM_000030.3(AGXT):c.1007T>A (p.Val336Asp)
|
rs180177155
|
|
NM_000030.3(AGXT):c.1014C>A (p.Tyr338Ter)
|
|
|
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)
|
rs180177156
|
|
NM_000030.3(AGXT):c.1072-1G>A
|
|
|
NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)
|
rs180177160
|
|
NM_000030.3(AGXT):c.1093_1094del (p.Gly365fs)
|
|
|
NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)
|
|
|
NM_000030.3(AGXT):c.126del (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.126dup (p.Leu43fs)
|
rs180177171
|
|
NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)
|
rs180177172
|
|
NM_000030.3(AGXT):c.139G>C (p.Gly47Arg)
|
|
|
NM_000030.3(AGXT):c.140G>A (p.Gly47Glu)
|
|
|
NM_000030.3(AGXT):c.166-11_166-8delinsTGCATGCAAGAT
|
|
|
NM_000030.3(AGXT):c.188G>A (p.Gly63Asp)
|
|
|
NM_000030.3(AGXT):c.190A>T (p.Ile64Phe)
|
|
|
NM_000030.3(AGXT):c.191T>A (p.Ile64Asn)
|
|
|
NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)
|
rs121908521
|
|
NM_000030.3(AGXT):c.221_227dup (p.Val77fs)
|
rs180177183
|
|
NM_000030.3(AGXT):c.238_239insTTGCCAA (p.Gly80fs)
|
|
|
NM_000030.3(AGXT):c.239_251del (p.Gly80fs)
|
|
|
NM_000030.3(AGXT):c.23_24delinsAT (p.Val8Asp)
|
|
|
NM_000030.3(AGXT):c.242C>G (p.Ser81Trp)
|
|
|
NM_000030.3(AGXT):c.244G>A (p.Gly82Arg)
|
|
|
NM_000030.3(AGXT):c.252T>A (p.Cys84Ter)
|
rs2058978388
|
|
NM_000030.3(AGXT):c.259del (p.Glu87fs)
|
|
|
NM_000030.3(AGXT):c.268dup (p.Leu90fs)
|
|
|
NM_000030.3(AGXT):c.279del (p.Leu94fs)
|
|
|
NM_000030.3(AGXT):c.283G>T (p.Glu95Ter)
|
|
|
NM_000030.3(AGXT):c.292G>C (p.Asp98His)
|
|
|
NM_000030.3(AGXT):c.299_307dup (p.Val102_Gly103insValLeuVal)
|
rs180177193
|
|
NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)
|
rs180177195
|
|
NM_000030.3(AGXT):c.305T>A (p.Val102Asp)
|
rs1304689724
|
|
NM_000030.3(AGXT):c.31_32insT (p.Pro11fs)
|
rs2106427288
|
|
NM_000030.3(AGXT):c.322T>C (p.Trp108Arg)
|
rs180177197
|
|
NM_000030.3(AGXT):c.326G>A (p.Gly109Glu)
|
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.335C>A (p.Ala112Asp)
|
rs796052061
|
|
NM_000030.3(AGXT):c.33del (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.34_35dup (p.Ala13fs)
|
|
|
NM_000030.3(AGXT):c.352C>A (p.Arg118Ser)
|
|
|
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg)
|
rs747043550
|
|
NM_000030.3(AGXT):c.358G>T (p.Gly120Ter)
|
rs747043550
|
|
NM_000030.3(AGXT):c.359-2A>G
|
|
|
NM_000030.3(AGXT):c.374_381del (p.Pro125fs)
|
rs2058986184
|
|
NM_000030.3(AGXT):c.386_395del (p.Asp129fs)
|
|
|
NM_000030.3(AGXT):c.389del (p.Pro130fs)
|
|
|
NM_000030.3(AGXT):c.412G>T (p.Glu138Ter)
|
rs2058986411
|
|
NM_000030.3(AGXT):c.423+1G>A
|
rs1553648493
|
|
NM_000030.3(AGXT):c.423+2T>C
|
|
|
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp)
|
rs180177217
|
|
NM_000030.3(AGXT):c.433del (p.Gln145fs)
|
|
|
NM_000030.3(AGXT):c.439A>T (p.Lys147Ter)
|
rs1193344118
|
|
NM_000030.3(AGXT):c.469G>C (p.Glu157Gln)
|
|
|
NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)
|
rs180177225
|
|
NM_000030.3(AGXT):c.482G>A (p.Gly161Asp)
|
|
|
NM_000030.3(AGXT):c.490C>T (p.Gln164Ter)
|
|
|
NM_000030.3(AGXT):c.517T>C (p.Cys173Arg)
|
rs2106428650
|
|
NM_000030.3(AGXT):c.524+2T>A
|
rs1553648568
|
|
NM_000030.3(AGXT):c.525-2A>T
|
|
|
NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter)
|
|
|
NM_000030.3(AGXT):c.533G>A (p.Cys178Tyr)
|
rs180177235
|
|
NM_000030.3(AGXT):c.534C>G (p.Cys178Trp)
|
rs1400552764
|
|
NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs)
|
|
|
NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)
|
rs180177236
|
|
NM_000030.3(AGXT):c.560C>A (p.Ser187Tyr)
|
|
|
NM_000030.3(AGXT):c.569_570insA (p.Thr191fs)
|
|
|
NM_000030.3(AGXT):c.577del (p.Leu193fs)
|
rs180177241
|
|
NM_000030.3(AGXT):c.579_580del (p.Tyr194fs)
|
|
|
NM_000030.3(AGXT):c.584T>G (p.Met195Arg)
|
rs180177244
|
|
NM_000030.3(AGXT):c.595+1G>A
|
|
|
NM_000030.3(AGXT):c.597_601del (p.Ile200fs)
|
|
|
NM_000030.3(AGXT):c.602A>T (p.Asp201Val)
|
|
|
NM_000030.3(AGXT):c.627G>T (p.Lys209Asn)
|
|
|
NM_000030.3(AGXT):c.632T>G (p.Leu211Arg)
|
|
|
NM_000030.3(AGXT):c.638C>A (p.Ala213Asp)
|
|
|
NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)
|
rs180177252
|
|
NM_000030.3(AGXT):c.653C>A (p.Ser218Ter)
|
rs180177253
|
|
NM_000030.3(AGXT):c.662_664del (p.Ser221del)
|
rs796052071
|
|
NM_000030.3(AGXT):c.667A>C (p.Ser223Arg)
|
|
|
NM_000030.3(AGXT):c.673_676del (p.Lys225fs)
|
rs1057516896
|
|
NM_000030.3(AGXT):c.681-1G>A
|
|
|
NM_000030.3(AGXT):c.681-1G>T
|
rs112673831
|
|
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del)
|
rs1553648979
|
|
NM_000030.3(AGXT):c.706A>T (p.Lys236Ter)
|
|
|
NM_000030.3(AGXT):c.737G>A (p.Trp246Ter)
|
rs180177259
|
|
NM_000030.3(AGXT):c.751_752delinsAA (p.Trp251Lys)
|
rs796052072
|
|
NM_000030.3(AGXT):c.757T>C (p.Cys253Arg)
|
rs180177264
|
|
NM_000030.3(AGXT):c.776+2T>G
|
rs1553649007
|
|
NM_000030.3(AGXT):c.779A>G (p.Tyr260Cys)
|
|
|
NM_000030.3(AGXT):c.781C>G (p.His261Asp)
|
rs778567956
|
|
NM_000030.3(AGXT):c.79G>T (p.Gly27Trp)
|
|
|
NM_000030.3(AGXT):c.807dup (p.Tyr270fs)
|
|
|
NM_000030.3(AGXT):c.826_827delinsGA (p.Leu276Glu)
|
|
|
NM_000030.3(AGXT):c.838del (p.Ala280fs)
|
rs2106430924
|
|
NM_000030.3(AGXT):c.847-1G>C
|
rs180177285
|
|
NM_000030.3(AGXT):c.847-2_847-1del
|
rs1553649375
|
|
NM_000030.3(AGXT):c.848del
|
|
|
NM_000030.3(AGXT):c.891T>G (p.Tyr297Ter)
|
rs180177292
|
|
NM_000030.3(AGXT):c.934A>T (p.Lys312Ter)
|
|
|
NM_000030.3(AGXT):c.943-1G>T
|
rs180177298
|
|
NM_000030.3(AGXT):c.973del (p.Ala325fs)
|
rs2059037657
|
|
NM_000030.3(AGXT):c.983_988del (p.Ala328_Tyr330delinsAsp)
|
rs180177302
|
|
NM_000030.3(AGXT):c.996G>A (p.Trp332Ter)
|
rs796052064
|
|
NM_000033.4(ABCD1):c.1006A>G (p.Lys336Glu)
|
|
|
NM_000033.4(ABCD1):c.1015T>C (p.Trp339Arg)
|
rs1603233120
|
|
NM_000033.4(ABCD1):c.1027G>C (p.Gly343Arg)
|
rs2091726796
|
|
NM_000033.4(ABCD1):c.1028G>A (p.Gly343Asp)
|
rs2091726809
|
|
NM_000033.4(ABCD1):c.102del (p.Leu35fs)
|
rs2148388645
|
|
NM_000033.4(ABCD1):c.1047_1056delinsATTATT (p.Pro350fs)
|
|
|
NM_000033.4(ABCD1):c.1075G>T (p.Glu359Ter)
|
|
|
NM_000033.4(ABCD1):c.1081+1G>C
|
|
|
NM_000033.4(ABCD1):c.1082-1G>A
|
rs1557054153
|
|
NM_000033.4(ABCD1):c.10dup (p.Leu4fs)
|
rs2091702447
|
|
NM_000033.4(ABCD1):c.1117A>T (p.Lys373Ter)
|
|
|
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro)
|
rs1603234466
|
|
NM_000033.4(ABCD1):c.1166G>A (p.Arg389His)
|
rs886044777
|
|
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)
|
rs1557054173
|
|
NM_000033.4(ABCD1):c.1172_1175del (p.Leu391fs)
|
rs2091749146
|
|
NM_000033.4(ABCD1):c.1186G>A (p.Ala396Thr)
|
rs1569541006
|
|
NM_000033.4(ABCD1):c.1214C>T (p.Ser405Leu)
|
|
|
NM_000033.4(ABCD1):c.1241G>A (p.Gly414Asp)
|
|
|
NM_000033.4(ABCD1):c.1252C>T (p.Arg418Trp)
|
rs128624220
|
|
NM_000033.4(ABCD1):c.1259A>C (p.His420Pro)
|
|
|
NM_000033.4(ABCD1):c.125del (p.Pro42fs)
|
rs2148388674
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)
|
|
|
NM_000033.4(ABCD1):c.1390C>T (p.Arg464Ter)
|
rs128624221
|
|
NM_000033.4(ABCD1):c.1394-2_1404del
|
|
|
NM_000033.4(ABCD1):c.1442T>C (p.Ile481Thr)
|
rs2148396070
|
|
NM_000033.4(ABCD1):c.1450C>T (p.Pro484Ser)
|
|
|
NM_000033.4(ABCD1):c.1478T>A (p.Leu493His)
|
|
|
NM_000033.4(ABCD1):c.1478T>C (p.Leu493Pro)
|
|
|
NM_000033.4(ABCD1):c.1484T>A (p.Ile495Asn)
|
rs2091753125
|
|
NM_000033.4(ABCD1):c.1500dup (p.Met501fs)
|
|
|
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu)
|
rs1603235267
|
|
NM_000033.4(ABCD1):c.1508T>C (p.Leu503Pro)
|
rs2091762267
|
|
NM_000033.4(ABCD1):c.1508del (p.Leu503fs)
|
|
|
NM_000033.4(ABCD1):c.1511_1517del (p.Leu504fs)
|
|
|
NM_000033.4(ABCD1):c.1519G>A (p.Gly507Ser)
|
rs2148397545
|
|
NM_000033.4(ABCD1):c.1520G>T (p.Gly507Val)
|
|
|
NM_000033.4(ABCD1):c.1523C>T (p.Pro508Leu)
|
rs1569541087
|
|
NM_000033.4(ABCD1):c.1528G>A (p.Gly510Ser)
|
|
|
NM_000033.4(ABCD1):c.1529G>A (p.Gly510Asp)
|
rs2148397558
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1534G>C (p.Gly512Arg)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1535G>T (p.Gly512Val)
|
rs2148397565
|
|
NM_000033.4(ABCD1):c.1537A>T (p.Lys513Ter)
|
|
|
NM_000033.4(ABCD1):c.1547_1548inv (p.Leu516Pro)
|
|
|
NM_000033.4(ABCD1):c.1552C>T (p.Arg518Trp)
|
rs128624224
|
|
NM_000033.4(ABCD1):c.1568T>C (p.Leu523Pro)
|
rs2091762647
|
|
NM_000033.4(ABCD1):c.1570T>C (p.Trp524Arg)
|
|
|
NM_000033.4(ABCD1):c.1574C>T (p.Pro525Leu)
|
|
|
NM_000033.4(ABCD1):c.1576_1577del (p.Thr526fs)
|
|
|
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro)
|
rs193922094
|
|
NM_000033.4(ABCD1):c.1600C>T (p.Pro534Ser)
|
|
|
NM_000033.4(ABCD1):c.1628C>G (p.Pro543Arg)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1628C>T (p.Pro543Leu)
|
rs1557054776
|
|
NM_000033.4(ABCD1):c.1631A>G (p.Gln544Arg)
|
rs2091763089
|
|
NM_000033.4(ABCD1):c.1675T>C (p.Tyr559His)
|
rs2091764510
|
|
NM_000033.4(ABCD1):c.1678C>A (p.Pro560Thr)
|
rs2091764526
|
|
NM_000033.4(ABCD1):c.1678C>T (p.Pro560Ser)
|
|
|
NM_000033.4(ABCD1):c.1679C>G (p.Pro560Arg)
|
rs398123105
|
|
NM_000033.4(ABCD1):c.1697T>C (p.Met566Thr)
|
rs2148397936
|
|
NM_000033.4(ABCD1):c.1713C>G (p.Tyr571Ter)
|
|
|
NM_000033.4(ABCD1):c.1731_1742del (p.Glu577_Leu580del)
|
|
|
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del)
|
rs1603235421
|
|
NM_000033.4(ABCD1):c.1741_1755del (p.Asp581_Leu585del)
|
rs2091764754
|
|
NM_000033.4(ABCD1):c.1771C>T (p.Arg591Trp)
|
rs398123106
|
|
NM_000033.4(ABCD1):c.1772G>C (p.Arg591Pro)
|
|
|
NM_000033.4(ABCD1):c.1780G>A (p.Gly594Ser)
|
|
|
NM_000033.4(ABCD1):c.1781-2A>G
|
|
|
NM_000033.4(ABCD1):c.1802G>C (p.Trp601Ser)
|
|
|
NM_000033.4(ABCD1):c.1814T>C (p.Leu605Pro)
|
rs2148399015
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
NM_000033.4(ABCD1):c.1822G>A (p.Gly608Ser)
|
rs2091772331
|
|
NM_000033.4(ABCD1):c.1823G>C (p.Gly608Ala)
|
rs78993751
|
|
NM_000033.4(ABCD1):c.1826A>G (p.Glu609Gly)
|
rs1557055260
|
|
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)
|
rs4010613
|
|
NM_000033.4(ABCD1):c.1853T>C (p.Met618Thr)
|
rs2148399060
|
|
NM_000033.4(ABCD1):c.1865+1G>A
|
rs1569541198
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1866-1G>A
|
rs1557055311
|
|
NM_000033.4(ABCD1):c.1866-1G>C
|
rs1557055311
|
|
NM_000033.4(ABCD1):c.1875C>A (p.Tyr625Ter)
|
|
|
NM_000033.4(ABCD1):c.1876G>A (p.Ala626Thr)
|
rs1557055316
|
|
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)
|
rs2148399201
|
|
NM_000033.4(ABCD1):c.1886A>T (p.Asp629Val)
|
rs2148399208
|
|
NM_000033.4(ABCD1):c.1900G>A (p.Ala634Thr)
|
rs782041940
|
|
NM_000033.4(ABCD1):c.1903G>A (p.Val635Met)
|
|
|
NM_000033.4(ABCD1):c.1919A>G (p.Glu640Gly)
|
rs1603236012
|
|
NM_000033.4(ABCD1):c.1939G>T (p.Ala647Ser)
|
|
|
NM_000033.4(ABCD1):c.1961T>A (p.Leu654Gln)
|
|
|
NM_000033.4(ABCD1):c.1967C>T (p.Ser656Phe)
|
rs1603236020
|
|
NM_000033.4(ABCD1):c.1973C>T (p.Thr658Ile)
|
rs1557055337
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.1988T>C (p.Leu663Pro)
|
rs886044882
|
|
NM_000033.4(ABCD1):c.1999C>T (p.His667Tyr)
|
rs2091775068
|
|
NM_000033.4(ABCD1):c.2002A>G (p.Thr668Ala)
|
rs1603236086
|
|
NM_000033.4(ABCD1):c.2003C>T (p.Thr668Ile)
|
rs1557055398
|
|
NM_000033.4(ABCD1):c.2010dup (p.Leu671fs)
|
rs1569541207
|
|
NM_000033.4(ABCD1):c.2035T>A (p.Trp679Arg)
|
rs1557055405
|
|
NM_000033.4(ABCD1):c.2051T>C (p.Leu684Pro)
|
rs2091775375
|
|
NM_000033.4(ABCD1):c.2080G>T (p.Glu694Ter)
|
|
|
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
|
|
|
NM_000033.4(ABCD1):c.221G>T (p.Arg74Leu)
|
rs868953385
|
|
NM_000033.4(ABCD1):c.229_237del (p.Trp77_Leu79del)
|
rs1569540680
|
|
NM_000033.4(ABCD1):c.22dup (p.Arg8fs)
|
|
|
NM_000033.4(ABCD1):c.234_242del (p.Arg80_Leu82del)
|
rs1603231784
|
|
NM_000033.4(ABCD1):c.253del (p.Arg85fs)
|
|
|
NM_000033.4(ABCD1):c.290A>G (p.His97Arg)
|
rs2091705296
|
|
NM_000033.4(ABCD1):c.293C>G (p.Ser98Trp)
|
|
|
NM_000033.4(ABCD1):c.309C>A (p.Ser103Arg)
|
|
|
NM_000033.4(ABCD1):c.310C>T (p.Arg104Cys)
|
rs2148388971
|
|
NM_000033.4(ABCD1):c.311G>A (p.Arg104His)
|
rs1557052302
|
|
NM_000033.4(ABCD1):c.317_320del (p.Phe106fs)
|
rs2148388986
|
|
NM_000033.4(ABCD1):c.320T>C (p.Leu107Pro)
|
rs1569540688
|
|
NM_000033.4(ABCD1):c.338G>C (p.Arg113Pro)
|
|
|
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)
|
rs1603231848
|
|
NM_000033.4(ABCD1):c.346G>T (p.Gly116Ter)
|
|
|
NM_000033.4(ABCD1):c.359G>C (p.Arg120Pro)
|
|
|
NM_000033.4(ABCD1):c.412CTC[1] (p.Leu139del)
|
rs1557052351
|
|
NM_000033.4(ABCD1):c.422C>T (p.Ala141Val)
|
rs1603231911
|
|
NM_000033.4(ABCD1):c.428C>T (p.Pro143Leu)
|
|
|
NM_000033.4(ABCD1):c.430G>A (p.Ala144Thr)
|
|
|
NM_000033.4(ABCD1):c.442A>G (p.Asn148Asp)
|
rs1557052362
|
|
NM_000033.4(ABCD1):c.442A>T (p.Asn148Tyr)
|
rs1557052362
|
|
NM_000033.4(ABCD1):c.451A>G (p.Ile151Val)
|
|
|
NM_000033.4(ABCD1):c.454C>A (p.Arg152Ser)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.454C>T (p.Arg152Cys)
|
rs1569540693
|
|
NM_000033.4(ABCD1):c.455G>A (p.Arg152His)
|
|
|
NM_000033.4(ABCD1):c.476_499del (p.Ala159_Leu166del)
|
|
|
NM_000033.4(ABCD1):c.487C>G (p.Arg163Gly)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.487C>T (p.Arg163Cys)
|
rs1569540695
|
|
NM_000033.4(ABCD1):c.488G>A (p.Arg163His)
|
rs1057517954
|
|
NM_000033.4(ABCD1):c.488G>T (p.Arg163Leu)
|
rs1057517954
|
|
NM_000033.4(ABCD1):c.520T>C (p.Tyr174His)
|
|
|
NM_000033.4(ABCD1):c.521A>C (p.Tyr174Ser)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.533A>C (p.Gln178Pro)
|
rs2091708025
|
|
NM_000033.4(ABCD1):c.565C>T (p.Arg189Trp)
|
rs1131691916
|
|
NM_000033.4(ABCD1):c.578C>G (p.Pro193Arg)
|
rs2091708534
|
|
NM_000033.4(ABCD1):c.582C>G (p.Asp194Glu)
|
rs1569540703
|
|
NM_000033.4(ABCD1):c.593C>T (p.Thr198Met)
|
rs1569540704
|
|
NM_000033.4(ABCD1):c.617_618delinsT (p.Ala206fs)
|
rs2091708827
|
|
NM_000033.4(ABCD1):c.651G>C (p.Lys217Asn)
|
rs864309520
|
|
NM_000033.4(ABCD1):c.653C>T (p.Pro218Leu)
|
rs1569540710
|
|
NM_000033.4(ABCD1):c.659T>C (p.Leu220Pro)
|
rs2091709142
|
|
NM_000033.4(ABCD1):c.659T>G (p.Leu220Arg)
|
|
|
NM_000033.4(ABCD1):c.661G>A (p.Asp221Asn)
|
rs2091709198
|
|
NM_000033.4(ABCD1):c.685C>G (p.Leu229Val)
|
rs2091709505
|
|
NM_000033.4(ABCD1):c.729del (p.Ser244fs)
|
|
|
NM_000033.4(ABCD1):c.748GTG[1] (p.Val251del)
|
rs2091710358
|
|
NM_000033.4(ABCD1):c.761C>T (p.Thr254Met)
|
rs1131691743
|
|
NM_000033.4(ABCD1):c.787C>T (p.Pro263Ser)
|
rs2091710960
|
|
NM_000033.4(ABCD1):c.788C>T (p.Pro263Leu)
|
|
|
NM_000033.4(ABCD1):c.796G>T (p.Gly266Trp)
|
rs128624218
|
|
NM_000033.4(ABCD1):c.797G>C (p.Gly266Ala)
|
|
|
NM_000033.4(ABCD1):c.80A>C (p.Tyr27Ser)
|
rs1569540665
|
|
NM_000033.4(ABCD1):c.824G>A (p.Arg275Gln)
|
|
|
NM_000033.4(ABCD1):c.829G>A (p.Gly277Arg)
|
rs1603232195
|
|
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)
|
rs1603232195
|
|
NM_000033.4(ABCD1):c.830G>C (p.Gly277Ala)
|
|
|
NM_000033.4(ABCD1):c.830G>T (p.Gly277Val)
|
rs2091711473
|
|
NM_000033.4(ABCD1):c.836T>C (p.Leu279Pro)
|
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.839G>C (p.Arg280Pro)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.843C>A (p.Tyr281Ter)
|
rs1557052555
|
|
NM_000033.4(ABCD1):c.847C>T (p.His283Tyr)
|
rs782509393
|
|
NM_000033.4(ABCD1):c.850T>C (p.Ser284Pro)
|
|
|
NM_000033.4(ABCD1):c.851C>T (p.Ser284Leu)
|
rs2091711722
|
|
NM_000033.4(ABCD1):c.853C>G (p.Arg285Gly)
|
rs782334088
|
|
NM_000033.4(ABCD1):c.869C>T (p.Ser290Leu)
|
|
|
NM_000033.4(ABCD1):c.873G>C (p.Glu291Asp)
|
rs2148389975
|
|
NM_000033.4(ABCD1):c.874G>A (p.Glu292Lys)
|
rs2091712008
|
|
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr)
|
rs1603232237
|
|
NM_000033.4(ABCD1):c.880G>A (p.Ala294Thr)
|
rs1131691954
|
|
NM_000033.4(ABCD1):c.887A>G (p.Tyr296Cys)
|
rs797044610
|
|
NM_000033.4(ABCD1):c.892G>A (p.Gly298Ser)
|
rs1603232243
|
|
NM_000033.4(ABCD1):c.900+2T>C
|
rs2091712381
|
|
NM_000033.4(ABCD1):c.900G>A (p.Glu300=)
|
rs1569540743
|
|
NM_000033.4(ABCD1):c.901-9_903del
|
rs2148391889
|
|
NM_000033.4(ABCD1):c.904_905delinsAT (p.Glu302Met)
|
rs2091726242
|
|
NM_000033.4(ABCD1):c.905A>G (p.Glu302Gly)
|
rs2091726251
|
|
NM_000033.4(ABCD1):c.913_942del (p.Leu305_Ala314del)
|
rs2148391915
|
|
NM_000033.4(ABCD1):c.917T>G (p.Leu306Arg)
|
|
|
NM_000033.4(ABCD1):c.931C>T (p.Gln311Ter)
|
rs941503814
|
|
NM_000033.4(ABCD1):c.935A>G (p.Asp312Gly)
|
|
|
NM_000033.4(ABCD1):c.951_952del (p.Asn318fs)
|
|
|
NM_000033.4(ABCD1):c.992A>G (p.Glu331Gly)
|
rs1557053241
|
|
NM_000059.4(BRCA2):c.15del (p.Glu7fs)
|
rs1064795072
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000061.3(BTK):c.1076T>C (p.Ile359Thr)
|
|
|
NM_000061.3(BTK):c.1300_1909-813del
|
|
|
NM_000061.3(BTK):c.134_139del (p.Glu45_Arg46del)
|
rs1927166327
|
|
NM_000061.3(BTK):c.1361A>C (p.His454Pro)
|
|
|
NM_000061.3(BTK):c.1361A>G (p.His454Arg)
|
|
|
NM_000061.3(BTK):c.1361A>T (p.His454Leu)
|
|
|
NM_000061.3(BTK):c.141+1G>C
|
|
|
NM_000061.3(BTK):c.1513G>T (p.Val505Phe)
|
rs1603004514
|
|
NM_000061.3(BTK):c.1558C>G (p.Arg520Gly)
|
rs128621201
|
|
NM_000061.3(BTK):c.1563C>G (p.Asp521Glu)
|
rs2147427209
|
|
NM_000061.3(BTK):c.1567-117_1604del
|
rs2147425786
|
|
NM_000061.3(BTK):c.1631+5G>C
|
rs1926404279
|
|
NM_000061.3(BTK):c.1632G>T (p.Arg544Ser)
|
|
|
NM_000061.3(BTK):c.167T>C (p.Ile56Thr)
|
rs1927146374
|
|
NM_000061.3(BTK):c.1694C>T (p.Pro565Leu)
|
|
|
NM_000061.3(BTK):c.1696C>T (p.Pro566Ser)
|
rs1603002421
|
|
NM_000061.3(BTK):c.1745C>T (p.Ala582Val)
|
|
|
NM_000061.3(BTK):c.1747T>G (p.Phe583Val)
|
rs1926378381
|
|
NM_000061.3(BTK):c.1763G>T (p.Trp588Leu)
|
rs1603001805
|
|
NM_000061.3(BTK):c.1793A>G (p.Tyr598Cys)
|
|
|
NM_000061.3(BTK):c.1889T>C (p.Met630Thr)
|
rs128621210
|
|
NM_000061.3(BTK):c.1901G>C (p.Trp634Ser)
|
rs1926352588
|
|
NM_000061.3(BTK):c.1908+1G>T
|
rs2147423955
|
|
NM_000061.3(BTK):c.1908+2dup
|
|
|
NM_000061.3(BTK):c.1932C>G (p.Phe644Leu)
|
rs1926219727
|
|
NM_000061.3(BTK):c.240+109C>A
|
rs2147447393
|
|
NM_000061.3(BTK):c.305T>C (p.Phe102Ser)
|
rs2147444867
|
|
NM_000061.3(BTK):c.455A>G (p.Tyr152Cys)
|
|
|
NM_000061.3(BTK):c.460T>G (p.Cys154Gly)
|
|
|
NM_000061.3(BTK):c.494G>A (p.Cys165Tyr)
|
|
|
NM_000061.3(BTK):c.839+1G>C
|
rs1569292649
|
|
NM_000061.3(BTK):c.840-1G>A
|
rs193922131
|
|
NM_000061.3(BTK):c.862C>T (p.Arg288Trp)
|
rs128621194
|
|
NM_000061.3(BTK):c.884T>C (p.Leu295Pro)
|
rs1926588125
|
|
NM_000061.3(BTK):c.974+5G>C
|
rs2147430161
|
|
NM_000098.3(CPT2):c.1046dup (p.Asn349fs)
|
rs1057517515
|
|
NM_000098.3(CPT2):c.1068dup (p.Asn357Ter)
|
|
|
NM_000098.3(CPT2):c.106dup (p.Gln36fs)
|
|
|
NM_000098.3(CPT2):c.1143_1144del (p.Arg382fs)
|
|
|
NM_000098.3(CPT2):c.1198_1199del (p.Gln400fs)
|
|
|
NM_000098.3(CPT2):c.1282dup (p.Thr428fs)
|
|
|
NM_000098.3(CPT2):c.1323_1326del (p.Thr442fs)
|
rs1557718075
|
|
NM_000098.3(CPT2):c.1324dup (p.Thr442fs)
|
rs1131691330
|
|
NM_000098.3(CPT2):c.1437C>G (p.Tyr479Ter)
|
|
|
NM_000098.3(CPT2):c.1446_1447del (p.Val483fs)
|
rs1553169787
|
|
NM_000098.3(CPT2):c.1455_1458dup (p.Glu487fs)
|
|
|
NM_000098.3(CPT2):c.1476_1482dup (p.Lys495fs)
|
|
|
NM_000098.3(CPT2):c.1806del (p.Phe602fs)
|
|
|
NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser)
|
rs1645443275
|
|
NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)
|
rs908749525
|
|
NM_000098.3(CPT2):c.1822G>C (p.Asp608His)
|
rs780286639
|
|
NM_000098.3(CPT2):c.1836del (p.Tyr614fs)
|
|
|
NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer)
|
rs1553170029
|
|
NM_000098.3(CPT2):c.192C>A (p.Tyr64Ter)
|
|
|
NM_000098.3(CPT2):c.1932dup (p.Glu645fs)
|
rs1645445189
|
|
NM_000098.3(CPT2):c.213_214del (p.Leu72fs)
|
rs751253358
|
|
NM_000098.3(CPT2):c.257del (p.Ser86fs)
|
|
|
NM_000098.3(CPT2):c.350_354del (p.Phe117fs)
|
rs778895906
|
|
NM_000098.3(CPT2):c.670del (p.Thr224fs)
|
rs762366252
|
|
NM_000098.3(CPT2):c.725_726del (p.His242fs)
|
rs1238901632
|
|
NM_000098.3(CPT2):c.725dup (p.His242fs)
|
|
|
NM_000098.3(CPT2):c.852del (p.Glu285fs)
|
rs1057517729
|
|
NM_000098.3(CPT2):c.989dup (p.Ile332fs)
|
rs1553169716
|
|
NM_000100.4(CSTB):c.168G>A (p.Lys56=)
|
rs386833440
|
|
NM_000100.4(CSTB):c.169-2A>G
|
rs386833441
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)
|
rs1569006250
|
|
NM_000100.4(CSTB):c.66G>A (p.Gln22=)
|
rs386833443
|
|
NM_000108.5(DLD):c.1016del (p.Val339fs)
|
|
|
NM_000108.5(DLD):c.1036A>T (p.Lys346Ter)
|
|
|
NM_000108.5(DLD):c.1047-1G>A
|
|
|
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)
|
rs2116271469
|
|
NM_000108.5(DLD):c.105C>G (p.Tyr35Ter)
|
rs747810875
|
|
NM_000108.5(DLD):c.105del (p.Thr34_Tyr35insTer)
|
rs1554396895
|
|
NM_000108.5(DLD):c.1080_1086dup (p.Ala363fs)
|
|
|
NM_000108.5(DLD):c.1105G>T (p.Glu369Ter)
|
rs2032293119
|
|
NM_000108.5(DLD):c.1109_1112dup (p.Ile371fs)
|
|
|
NM_000108.5(DLD):c.1119T>A (p.Cys373Ter)
|
rs2032293586
|
|
NM_000108.5(DLD):c.112C>T (p.Gln38Ter)
|
rs1057516698
|
|
NM_000108.5(DLD):c.118+1G>T
|
rs1554396908
|
|
NM_000108.5(DLD):c.1185dup (p.His396fs)
|
|
|
NM_000108.5(DLD):c.1187_1188del (p.His396fs)
|
|
|
NM_000108.5(DLD):c.119-1G>A
|
rs2116206966
|
|
NM_000108.5(DLD):c.119-1G>T
|
|
|
NM_000108.5(DLD):c.1214C>A (p.Ser405Ter)
|
|
|
NM_000108.5(DLD):c.1214C>G (p.Ser405Ter)
|
|
|
NM_000108.5(DLD):c.1219G>T (p.Glu407Ter)
|
|
|
NM_000108.5(DLD):c.1233dup (p.Glu412fs)
|
|
|
NM_000108.5(DLD):c.1236+1G>T
|
rs1554400483
|
|
NM_000108.5(DLD):c.1318A>T (p.Lys440Ter)
|
|
|
NM_000108.5(DLD):c.1421del (p.Gly474fs)
|
rs1554400699
|
|
NM_000108.5(DLD):c.1429_1432del (p.Cys477fs)
|
rs1554400704
|
|
NM_000108.5(DLD):c.1436A>T (p.Asp479Val)
|
rs397514649
|
|
NM_000108.5(DLD):c.1446_1447del (p.Arg482fs)
|
rs1554400713
|
|
NM_000108.5(DLD):c.1463del (p.Pro488fs)
|
rs1554400720
|
|
NM_000108.5(DLD):c.1483A>G (p.Arg495Gly)
|
rs121964989
|
|
NM_000108.5(DLD):c.1520_1523del (p.Ile507fs)
|
rs777884525
|
|
NM_000108.5(DLD):c.198+1G>A
|
rs1554398193
|
|
NM_000108.5(DLD):c.198+1G>T
|
|
|
NM_000108.5(DLD):c.199-1G>A
|
rs1554398264
|
|
NM_000108.5(DLD):c.19dup (p.Val7fs)
|
|
|
NM_000108.5(DLD):c.223dup (p.Thr75fs)
|
rs1057517214
|
|
NM_000108.5(DLD):c.225_226del (p.Leu76fs)
|
|
|
NM_000108.5(DLD):c.268-1G>A
|
|
|
NM_000108.5(DLD):c.268-2A>G
|
rs1554398461
|
|
NM_000108.5(DLD):c.325A>T (p.Arg109Ter)
|
rs2031930307
|
|
NM_000108.5(DLD):c.337+1G>T
|
|
|
NM_000108.5(DLD):c.338-1G>A
|
|
|
NM_000108.5(DLD):c.338-2A>G
|
|
|
NM_000108.5(DLD):c.338-2_338-1delinsT
|
rs1554398624
|
|
NM_000108.5(DLD):c.345del (p.Val116fs)
|
rs1554398625
|
|
NM_000108.5(DLD):c.383delinsTA (p.Ser128fs)
|
|
|
NM_000108.5(DLD):c.39+1G>A
|
rs111257462
|
|
NM_000108.5(DLD):c.40-2A>G
|
|
|
NM_000108.5(DLD):c.439-1G>C
|
|
|
NM_000108.5(DLD):c.439-2A>G
|
|
|
NM_000108.5(DLD):c.491_492insGTATAAGAGACAG (p.Thr165fs)
|
|
|
NM_000108.5(DLD):c.582+2T>C
|
|
|
NM_000108.5(DLD):c.583-1G>C
|
rs2032004082
|
|
NM_000108.5(DLD):c.632_633del (p.Lys211fs)
|
|
|
NM_000108.5(DLD):c.633dup (p.Val212fs)
|
rs1040811473
|
|
NM_000108.5(DLD):c.737del (p.Gly246fs)
|
|
|
NM_000108.5(DLD):c.748G>T (p.Gly250Ter)
|
rs2032247686
|
|
NM_000108.5(DLD):c.801del (p.Lys267fs)
|
|
|
NM_000108.5(DLD):c.802C>T (p.Gln268Ter)
|
rs2032249629
|
|
NM_000108.5(DLD):c.821dup (p.Leu274fs)
|
rs751883130
|
|
NM_000108.5(DLD):c.829A>T (p.Lys277Ter)
|
|
|
NM_000108.5(DLD):c.82del (p.Ser28fs)
|
rs764704217
|
|
NM_000108.5(DLD):c.82dup (p.Ser28fs)
|
|
|
NM_000108.5(DLD):c.856_857del (p.Asp286fs)
|
|
|
NM_000108.5(DLD):c.865dup (p.Ile289fs)
|
rs1554400179
|
|
NM_000108.5(DLD):c.875+1G>T
|
rs1328820332
|
|
NM_000108.5(DLD):c.898A>T (p.Lys300Ter)
|
|
|
NM_000108.5(DLD):c.904G>T (p.Glu302Ter)
|
rs2032281944
|
|
NM_000108.5(DLD):c.936C>A (p.Cys312Ter)
|
rs2032282970
|
|
NM_000108.5(DLD):c.943C>T (p.Arg315Ter)
|
|
|
NM_000144.5(FXN):c.166-5T>G
|
rs2133102338
|
|
NM_000144.5(FXN):c.517T>G (p.Trp173Gly)
|
rs56214919
|
|
NM_000153.4(GALC):c.196G>A (p.Ala66Thr)
|
rs1057518843
|
|
NM_000156.6(GAMT):c.113dup (p.Lys39fs)
|
|
|
NM_000156.6(GAMT):c.115A>G (p.Lys39Glu)
|
|
|
NM_000156.6(GAMT):c.11_12del (p.Pro4fs)
|
|
|
NM_000156.6(GAMT):c.148A>C (p.Met50Leu)
|
rs104894694
|
|
NM_000156.6(GAMT):c.152A>C (p.His51Pro)
|
|
|
NM_000156.6(GAMT):c.160G>C (p.Ala54Pro)
|
|
|
NM_000156.6(GAMT):c.163_181+6del
|
rs2144640856
|
|
NM_000156.6(GAMT):c.181+2T>C
|
rs2144640859
|
|
NM_000156.6(GAMT):c.181G>A (p.Gly61Arg)
|
rs1300512258
|
|
NM_000156.6(GAMT):c.182-2A>G
|
rs2082624299
|
|
NM_000156.6(GAMT):c.202G>T (p.Gly68Cys)
|
|
|
NM_000156.6(GAMT):c.220G>C (p.Ala74Pro)
|
|
|
NM_000156.6(GAMT):c.233T>A (p.Val78Glu)
|
|
|
NM_000156.6(GAMT):c.24del (p.Ile9fs)
|
rs967689898
|
|
NM_000156.6(GAMT):c.261G>A (p.Trp87Ter)
|
rs761115975
|
|
NM_000156.6(GAMT):c.274A>G (p.Asn92Asp)
|
|
|
NM_000156.6(GAMT):c.301del (p.Asp101fs)
|
rs780806777
|
|
NM_000156.6(GAMT):c.307del (p.Ala103fs)
|
rs2082622867
|
|
NM_000156.6(GAMT):c.324_325del (p.His108fs)
|
rs2144638048
|
|
NM_000156.6(GAMT):c.327+1G>T
|
rs2144638033
|
|
NM_000156.6(GAMT):c.327+2T>G
|
|
|
NM_000156.6(GAMT):c.328-2A>G
|
rs2082621259
|
|
NM_000156.6(GAMT):c.332_338del (p.Ile111fs)
|
|
|
NM_000156.6(GAMT):c.350G>A (p.Trp117Ter)
|
rs2144637546
|
|
NM_000156.6(GAMT):c.356dup (p.Asp119fs)
|
rs2144637533
|
|
NM_000156.6(GAMT):c.391+1G>C
|
rs1600158894
|
|
NM_000156.6(GAMT):c.391G>C (p.Gly131Arg)
|
|
|
NM_000156.6(GAMT):c.392-2A>G
|
rs2082618808
|
|
NM_000156.6(GAMT):c.402C>A (p.Tyr134Ter)
|
rs556829801
|
|
NM_000156.6(GAMT):c.403G>T (p.Asp135Tyr)
|
|
|
NM_000156.6(GAMT):c.411C>G (p.Tyr137Ter)
|
|
|
NM_000156.6(GAMT):c.419C>A (p.Ser140Ter)
|
rs747656257
|
|
NM_000156.6(GAMT):c.439C>T (p.His147Tyr)
|
|
|
NM_000156.6(GAMT):c.459+1G>A
|
|
|
NM_000156.6(GAMT):c.475del (p.Leu159fs)
|
|
|
NM_000156.6(GAMT):c.476T>C (p.Leu159Pro)
|
rs2144636453
|
|
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)
|
rs760101382
|
|
NM_000156.6(GAMT):c.497T>C (p.Leu166Pro)
|
rs1483148182
|
|
NM_000156.6(GAMT):c.505T>C (p.Cys169Arg)
|
rs1600158346
|
|
NM_000156.6(GAMT):c.507_521dup (p.Cys169_Ser173dup)
|
rs779931959
|
|
NM_000156.6(GAMT):c.50del (p.Ser17fs)
|
|
|
NM_000156.6(GAMT):c.520T>C (p.Trp174Arg)
|
rs891042971
|
|
NM_000156.6(GAMT):c.526G>T (p.Glu176Ter)
|
rs796052525
|
|
NM_000156.6(GAMT):c.526del (p.Glu176fs)
|
rs2144636246
|
|
NM_000156.6(GAMT):c.564G>T (p.Met188Ile)
|
|
|
NM_000156.6(GAMT):c.590T>C (p.Leu197Pro)
|
|
|
NM_000156.6(GAMT):c.595dup (p.Glu199fs)
|
|
|
NM_000156.6(GAMT):c.59G>A (p.Trp20Ter)
|
rs80338734
|
|
NM_000156.6(GAMT):c.610_611delinsGAA (p.Arg204fs)
|
|
|
NM_000156.6(GAMT):c.91_92insCACGG (p.Asp31fs)
|
rs1443859067
|
|
NM_000157.3(GBA1):c.[1197G>T];[1603C>T]
|
|
|
NM_000157.3(GBA1):c.[1448T>C];[167T>G]
|
|
|
NM_000157.3(GBA1):c.[1448T>C];[407C>T]
|
|
|
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)
|
rs1553217294
|
|
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)
|
rs398123527
|
|
NM_000157.4(GBA1):c.1177C>G (p.Leu393Val)
|
rs878853315
|
|
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr)
|
rs121908307
|
|
NM_000157.4(GBA1):c.1214G>C (p.Ser405Thr)
|
rs1392291885
|
|
NM_000157.4(GBA1):c.1238A>C (p.His413Pro)
|
rs911331923
|
|
NM_000157.4(GBA1):c.1240G>T (p.Val414Leu)
|
rs398123528
|
|
NM_000157.4(GBA1):c.1255G>A (p.Asp419Asn)
|
rs1671712475
|
|
NM_000157.4(GBA1):c.1271T>C (p.Leu424Pro)
|
rs772548282
|
|
NM_000157.4(GBA1):c.1312G>C (p.Asp438His)
|
rs1553217009
|
|
NM_000157.4(GBA1):c.1343A>T (p.Asp448Val)
|
rs77369218
|
|
NM_000157.4(GBA1):c.1388+2T>C
|
rs1571965880
|
|
NM_000157.4(GBA1):c.1397T>G (p.Ile466Ser)
|
rs878853320
|
|
NM_000157.4(GBA1):c.1448T>G (p.Leu483Arg)
|
rs421016
|
|
NM_000157.4(GBA1):c.1459G>A (p.Ala487Thr)
|
rs878853317
|
|
NM_000157.4(GBA1):c.1495G>C (p.Val499Leu)
|
rs369068553
|
|
NM_000157.4(GBA1):c.415G>C (p.Ala139Pro)
|
rs878853314
|
|
NM_000157.4(GBA1):c.444del (p.Ser149fs)
|
|
|
NM_000157.4(GBA1):c.509G>A (p.Arg170His)
|
rs80356763
|
|
NM_000157.4(GBA1):c.533del (p.Pro178fs)
|
rs397518434
|
|
NM_000157.4(GBA1):c.866G>C (p.Gly289Ala)
|
rs878853321
|
|
NM_000157.4(GBA1):c.896T>A (p.Ile299Asn)
|
|
|
NM_000157.4(GBA1):c.913C>G (p.Pro305Ala)
|
rs770796008
|
|
NM_000157.4(GBA1):c.914C>T (p.Pro305Leu)
|
rs79215220
|
|
NM_000157.4(GBA1):c.929G>A (p.Ser310Asn)
|
rs74731340
|
|
NM_000170.3(GLDC):c.1002dup (p.Ala335fs)
|
rs386833516
|
|
NM_000170.3(GLDC):c.1012G>T (p.Glu338Ter)
|
rs1818692381
|
|
NM_000170.3(GLDC):c.1039A>T (p.Arg347Ter)
|
rs555359738
|
|
NM_000170.3(GLDC):c.1040G>A (p.Arg347Lys)
|
|
|
NM_000170.3(GLDC):c.1054del (p.Thr352fs)
|
rs386833518
|
|
NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg)
|
rs1554648060
|
|
NM_000170.3(GLDC):c.1055C>T (p.Thr352Ile)
|
|
|
NM_000170.3(GLDC):c.1057_1058+13del
|
|
|
NM_000170.3(GLDC):c.1059-1G>C
|
rs1587958061
|
|
NM_000170.3(GLDC):c.1059-1G>T
|
rs1587958061
|
|
NM_000170.3(GLDC):c.1072A>T (p.Lys358Ter)
|
rs1818624667
|
|
NM_000170.3(GLDC):c.1108C>T (p.Gln370Ter)
|
rs570097430
|
|
NM_000170.3(GLDC):c.1111C>G (p.His371Asp)
|
rs386833519
|
|
NM_000170.3(GLDC):c.1118G>C (p.Arg373Pro)
|
|
|
NM_000170.3(GLDC):c.1127A>C (p.Lys376Thr)
|
rs1300550278
|
|
NM_000170.3(GLDC):c.1145G>C (p.Cys382Ser)
|
|
|
NM_000170.3(GLDC):c.1155+1G>T
|
|
|
NM_000170.3(GLDC):c.1175del (p.Ala392fs)
|
rs386833520
|
|
NM_000170.3(GLDC):c.1194C>A (p.Tyr398Ter)
|
rs1226098656
|
|
NM_000170.3(GLDC):c.1261+1G>C
|
|
|
NM_000170.3(GLDC):c.1261+2T>A
|
rs1818463608
|
|
NM_000170.3(GLDC):c.1285_1286insCAAA (p.Leu429fs)
|
rs386833522
|
|
NM_000170.3(GLDC):c.1288C>T (p.Gln430Ter)
|
rs1818407147
|
|
NM_000170.3(GLDC):c.1299del (p.Phe434fs)
|
|
|
NM_000170.3(GLDC):c.1319T>A (p.Ile440Asn)
|
rs386833523
|
|
NM_000170.3(GLDC):c.1333_1334del (p.Val446fs)
|
|
|
NM_000170.3(GLDC):c.1339A>T (p.Lys447Ter)
|
rs1818405533
|
|
NM_000170.3(GLDC):c.1342G>T (p.Glu448Ter)
|
rs777365335
|
|
NM_000170.3(GLDC):c.1363C>T (p.Gln455Ter)
|
rs1818404451
|
|
NM_000170.3(GLDC):c.1401+5G>T
|
|
|
NM_000170.3(GLDC):c.1402-1G>A
|
rs386833525
|
|
NM_000170.3(GLDC):c.1402-1G>C
|
rs386833525
|
|
NM_000170.3(GLDC):c.1405G>C (p.Gly469Arg)
|
rs1587950355
|
|
NM_000170.3(GLDC):c.1412C>G (p.Ser471Cys)
|
|
|
NM_000170.3(GLDC):c.1444dup (p.Asp482fs)
|
rs386833526
|
|
NM_000170.3(GLDC):c.1506_1507insCACTT (p.Glu503fs)
|
|
|
NM_000170.3(GLDC):c.1510G>T (p.Glu504Ter)
|
rs1038321056
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000170.3(GLDC):c.1584C>A (p.Tyr528Ter)
|
|
|
NM_000170.3(GLDC):c.1595C>G (p.Thr532Arg)
|
rs386833527
|
|
NM_000170.3(GLDC):c.1597A>T (p.Asn533Tyr)
|
rs386833528
|
|
NM_000170.3(GLDC):c.1619_1621delinsT (p.Lys540fs)
|
|
|
NM_000170.3(GLDC):c.1642C>G (p.Leu548Val)
|
rs1554646653
|
|
NM_000170.3(GLDC):c.1652G>A (p.Ser551Asn)
|
|
|
NM_000170.3(GLDC):c.1654A>G (p.Met552Val)
|
rs386833529
|
|
NM_000170.3(GLDC):c.1665+2del
|
|
|
NM_000170.3(GLDC):c.1666-1G>A
|
|
|
NM_000170.3(GLDC):c.1676C>A (p.Thr559Asn)
|
rs1554646634
|
|
NM_000170.3(GLDC):c.1740C>G (p.His580Gln)
|
rs1587946346
|
|
NM_000170.3(GLDC):c.1768G>T (p.Gly590Ter)
|
rs1818289261
|
|
NM_000170.3(GLDC):c.176G>C (p.Arg59Thr)
|
rs386833530
|
|
NM_000170.3(GLDC):c.1774C>T (p.Gln592Ter)
|
rs1818289122
|
|
NM_000170.3(GLDC):c.1800_1801insAGACAGT (p.Asp601delinsArgGlnTer)
|
|
|
NM_000170.3(GLDC):c.1805dup (p.Leu602fs)
|
|
|
NM_000170.3(GLDC):c.1811_1812insCACTCAGCAGCAG (p.Glu604fs)
|
|
|
NM_000170.3(GLDC):c.1812del (p.Glu604fs)
|
rs2129831647
|
|
NM_000170.3(GLDC):c.1822T>G (p.Tyr608Asp)
|
|
|
NM_000170.3(GLDC):c.1822_1832del (p.Tyr608fs)
|
rs386833532
|
|
NM_000170.3(GLDC):c.1825_1826del (p.Asp609fs)
|
|
|
NM_000170.3(GLDC):c.1832T>G (p.Val611Gly)
|
rs386833533
|
|
NM_000170.3(GLDC):c.1843C>A (p.Pro615Thr)
|
rs2129831448
|
|
NM_000170.3(GLDC):c.1844C>T (p.Pro615Leu)
|
rs2129831443
|
|
NM_000170.3(GLDC):c.1847A>G (p.Asn616Ser)
|
|
|
NM_000170.3(GLDC):c.1847A>T (p.Asn616Ile)
|
rs1818287644
|
|
NM_000170.3(GLDC):c.1850+1G>T
|
rs774099283
|
|
NM_000170.3(GLDC):c.1850+1del
|
rs1399754800
|
|
NM_000170.3(GLDC):c.1868_1869dup (p.Ala624fs)
|
rs772068893
|
|
NM_000170.3(GLDC):c.1873G>T (p.Gly625Ter)
|
|
|
NM_000170.3(GLDC):c.1926+1G>A
|
rs386833534
|
|
NM_000170.3(GLDC):c.1926+5G>A
|
rs1554644678
|
|
NM_000170.3(GLDC):c.1927-1G>A
|
rs2129735367
|
|
NM_000170.3(GLDC):c.1931G>T (p.Cys644Phe)
|
rs386833535
|
|
NM_000170.3(GLDC):c.1952A>G (p.His651Arg)
|
rs386833536
|
|
NM_000170.3(GLDC):c.1996C>T (p.Gln666Ter)
|
rs386833537
|
|
NM_000170.3(GLDC):c.2014A>T (p.Lys672Ter)
|
rs1563836857
|
|
NM_000170.3(GLDC):c.2017del (p.Tyr673fs)
|
|
|
NM_000170.3(GLDC):c.2033_2035del (p.Ala678del)
|
rs769625871
|
|
NM_000170.3(GLDC):c.2052+1G>A
|
rs765906340
|
|
NM_000170.3(GLDC):c.2053-2A>C
|
rs1323060528
|
|
NM_000170.3(GLDC):c.2053-2A>G
|
|
|
NM_000170.3(GLDC):c.2080G>C (p.Ala694Pro)
|
rs386833538
|
|
NM_000170.3(GLDC):c.2081_2088del (p.Ala694fs)
|
rs1196401015
|
|
NM_000170.3(GLDC):c.2097C>G (p.Tyr699Ter)
|
rs149694787
|
|
NM_000170.3(GLDC):c.2098C>G (p.Pro700Ala)
|
rs386833539
|
|
NM_000170.3(GLDC):c.2105C>T (p.Thr702Ile)
|
rs386833540
|
|
NM_000170.3(GLDC):c.2118_2119del (p.Phe706fs)
|
|
|
NM_000170.3(GLDC):c.2146C>T (p.Leu716Phe)
|
|
|
NM_000170.3(GLDC):c.2153_2155delinsTCCTGGTTTA (p.His718_Gln719delinsLeuLeuValTer)
|
rs386833541
|
|
NM_000170.3(GLDC):c.2167C>T (p.Gln723Ter)
|
rs779434645
|
|
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg)
|
rs386833542
|
|
NM_000170.3(GLDC):c.2182G>C (p.Gly728Arg)
|
rs386833542
|
|
NM_000170.3(GLDC):c.2186C>A (p.Ala729Glu)
|
|
|
NM_000170.3(GLDC):c.2189del (p.Asn730fs)
|
|
|
NM_000170.3(GLDC):c.2197G>A (p.Ala733Thr)
|
rs2129725849
|
|
NM_000170.3(GLDC):c.2197G>T (p.Ala733Ser)
|
|
|
NM_000170.3(GLDC):c.2203-2A>G
|
rs386833545
|
|
NM_000170.3(GLDC):c.2212_2218del (p.Cys738fs)
|
|
|
NM_000170.3(GLDC):c.2213_2214del (p.Cys738fs)
|
rs386833546
|
|
NM_000170.3(GLDC):c.2236G>A (p.Asp746Asn)
|
|
|
NM_000170.3(GLDC):c.2258A>C (p.His753Pro)
|
rs386833547
|
|
NM_000170.3(GLDC):c.2259C>G (p.His753Gln)
|
rs2129719894
|
|
NM_000170.3(GLDC):c.2267_2269del (p.Phe756del)
|
rs121964975
|
|
NM_000170.3(GLDC):c.2276C>G (p.Pro759Arg)
|
|
|
NM_000170.3(GLDC):c.2279A>T (p.His760Leu)
|
rs1817583687
|
|
NM_000170.3(GLDC):c.2284G>A (p.Gly762Arg)
|
rs386833550
|
|
NM_000170.3(GLDC):c.2287G>T (p.Gly763Cys)
|
|
|
NM_000170.3(GLDC):c.2293C>T (p.Pro765Ser)
|
rs386833551
|
|
NM_000170.3(GLDC):c.2297G>T (p.Gly766Val)
|
rs750384225
|
|
NM_000170.3(GLDC):c.2303G>C (p.Gly768Ala)
|
rs2129719653
|
|
NM_000170.3(GLDC):c.2306C>T (p.Pro769Leu)
|
rs386833552
|
|
NM_000170.3(GLDC):c.2312G>C (p.Gly771Ala)
|
rs760077981
|
|
NM_000170.3(GLDC):c.2315+2T>A
|
rs1554643738
|
|
NM_000170.3(GLDC):c.2315+2T>G
|
rs1554643738
|
|
NM_000170.3(GLDC):c.2323C>T (p.His775Tyr)
|
rs1554643619
|
|
NM_000170.3(GLDC):c.2366del (p.Lys789fs)
|
|
|
NM_000170.3(GLDC):c.236T>C (p.Leu79Pro)
|
rs2130031802
|
|
NM_000170.3(GLDC):c.2380_2399del (p.Ala794fs)
|
rs1817555980
|
|
NM_000170.3(GLDC):c.23G>A (p.Trp8Ter)
|
rs1477860542
|
|
NM_000170.3(GLDC):c.2414G>A (p.Trp805Ter)
|
rs386833557
|
|
NM_000170.3(GLDC):c.2422del (p.Ser808fs)
|
rs386833558
|
|
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs)
|
rs755313904
|
|
NM_000170.3(GLDC):c.2458-1G>T
|
rs1554643370
|
|
NM_000170.3(GLDC):c.2458-2A>G
|
rs1259354298
|
|
NM_000170.3(GLDC):c.245T>G (p.Leu82Trp)
|
rs386833559
|
|
NM_000170.3(GLDC):c.2481_2484del (p.Gln828fs)
|
rs766762760
|
|
NM_000170.3(GLDC):c.2482C>T (p.Gln828Ter)
|
rs1209943477
|
|
NM_000170.3(GLDC):c.2516A>G (p.Tyr839Cys)
|
|
|
NM_000170.3(GLDC):c.2517C>A (p.Tyr839Ter)
|
rs1817497939
|
|
NM_000170.3(GLDC):c.2519T>A (p.Met840Lys)
|
rs386833561
|
|
NM_000170.3(GLDC):c.2521G>C (p.Ala841Pro)
|
rs386833562
|
|
NM_000170.3(GLDC):c.2527C>T (p.Arg843Ter)
|
rs1554643360
|
|
NM_000170.3(GLDC):c.255+1G>A
|
rs386833563
|
|
NM_000170.3(GLDC):c.255+3A>T
|
rs1417674040
|
|
NM_000170.3(GLDC):c.256-2A>G
|
|
|
NM_000170.3(GLDC):c.2570-2A>G
|
|
|
NM_000170.3(GLDC):c.2574T>G (p.Tyr858Ter)
|
rs386833564
|
|
NM_000170.3(GLDC):c.2584G>A (p.Glu862Lys)
|
rs925908885
|
|
NM_000170.3(GLDC):c.2629G>T (p.Glu877Ter)
|
rs765893483
|
|
NM_000170.3(GLDC):c.2631_2639del (p.Glu877_Val879del)
|
rs1554642294
|
|
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val)
|
rs386833566
|
|
NM_000170.3(GLDC):c.2656C>T (p.Gln886Ter)
|
rs386833567
|
|
NM_000170.3(GLDC):c.2666-1G>A
|
rs1429861000
|
|
NM_000170.3(GLDC):c.2677C>T (p.Pro893Ser)
|
rs2129650066
|
|
NM_000170.3(GLDC):c.2680del (p.Thr894fs)
|
|
|
NM_000170.3(GLDC):c.2690G>A (p.Trp897Ter)
|
|
|
NM_000170.3(GLDC):c.2725G>T (p.Glu909Ter)
|
rs1817123754
|
|
NM_000170.3(GLDC):c.2729C>A (p.Ser910Ter)
|
rs759933539
|
|
NM_000170.3(GLDC):c.2743G>T (p.Glu915Ter)
|
|
|
NM_000170.3(GLDC):c.2755T>G (p.Phe919Val)
|
rs1817122724
|
|
NM_000170.3(GLDC):c.2800G>T (p.Glu934Ter)
|
rs1817121202
|
|
NM_000170.3(GLDC):c.2838+2T>C
|
rs1554641887
|
|
NM_000170.3(GLDC):c.2838+5G>A
|
rs386833568
|
|
NM_000170.3(GLDC):c.2839-1G>C
|
rs386833569
|
|
NM_000170.3(GLDC):c.2846C>T (p.Pro949Leu)
|
rs386833570
|
|
NM_000170.3(GLDC):c.2884C>T (p.Arg962Trp)
|
rs1172061571
|
|
NM_000170.3(GLDC):c.2888dup (p.Tyr964fs)
|
rs1554641737
|
|
NM_000170.3(GLDC):c.2896A>G (p.Arg966Gly)
|
rs386833573
|
|
NM_000170.3(GLDC):c.28del (p.Leu10fs)
|
rs386833574
|
|
NM_000170.3(GLDC):c.2983G>A (p.Asp995Asn)
|
rs1554641505
|
|
NM_000170.3(GLDC):c.302T>A (p.Leu101Ter)
|
rs1819702000
|
|
NM_000170.3(GLDC):c.315_316del (p.Lys106fs)
|
|
|
NM_000170.3(GLDC):c.334+1G>C
|
rs978795483
|
|
NM_000170.3(GLDC):c.334+1G>T
|
rs978795483
|
|
NM_000170.3(GLDC):c.335-1G>C
|
rs1554649675
|
|
NM_000170.3(GLDC):c.395C>G (p.Ser132Trp)
|
rs386833576
|
|
NM_000170.3(GLDC):c.413A>T (p.Tyr138Phe)
|
rs386833577
|
|
NM_000170.3(GLDC):c.425C>A (p.Ser142Ter)
|
rs2129948971
|
|
NM_000170.3(GLDC):c.433C>T (p.Gln145Ter)
|
rs1819059889
|
|
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys)
|
rs376578742
|
|
NM_000170.3(GLDC):c.447del (p.Asn150fs)
|
|
|
NM_000170.3(GLDC):c.449A>C (p.Asn150Thr)
|
rs386833578
|
|
NM_000170.3(GLDC):c.449A>G (p.Asn150Ser)
|
rs386833578
|
|
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
|
|
|
NM_000170.3(GLDC):c.457G>T (p.Glu153Ter)
|
rs386833579
|
|
NM_000170.3(GLDC):c.466G>T (p.Gly156Ter)
|
rs1819058509
|
|
NM_000170.3(GLDC):c.467G>A (p.Gly156Glu)
|
rs2129948795
|
|
NM_000170.3(GLDC):c.471-1G>C
|
rs1818826951
|
|
NM_000170.3(GLDC):c.471-1G>T
|
|
|
NM_000170.3(GLDC):c.482A>G (p.Tyr161Cys)
|
rs386833580
|
|
NM_000170.3(GLDC):c.493C>T (p.Gln165Ter)
|
|
|
NM_000170.3(GLDC):c.493del (p.Gln165fs)
|
|
|
NM_000170.3(GLDC):c.4C>T (p.Gln2Ter)
|
rs1554652870
|
|
NM_000170.3(GLDC):c.513G>C (p.Gly171=)
|
rs386833581
|
|
NM_000170.3(GLDC):c.527T>A (p.Leu176Ter)
|
|
|
NM_000170.3(GLDC):c.548_550delinsA (p.Val183fs)
|
|
|
NM_000170.3(GLDC):c.552T>A (p.Cys184Ter)
|
rs759699162
|
|
NM_000170.3(GLDC):c.560C>A (p.Thr187Lys)
|
rs386833582
|
|
NM_000170.3(GLDC):c.560C>G (p.Thr187Arg)
|
rs386833582
|
|
NM_000170.3(GLDC):c.594T>A (p.Asp198Glu)
|
|
|
NM_000170.3(GLDC):c.605C>G (p.Ala202Gly)
|
rs386833583
|
|
NM_000170.3(GLDC):c.605C>T (p.Ala202Val)
|
rs386833583
|
|
NM_000170.3(GLDC):c.622C>T (p.Gln208Ter)
|
rs1163351205
|
|
NM_000170.3(GLDC):c.633C>A (p.Tyr211Ter)
|
rs776895767
|
|
NM_000170.3(GLDC):c.635+1G>A
|
rs1368757896
|
|
NM_000170.3(GLDC):c.635+1G>T
|
|
|
NM_000170.3(GLDC):c.635G>A (p.Arg212Lys)
|
rs386833584
|
|
NM_000170.3(GLDC):c.636-2A>G
|
|
|
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)
|
rs386833585
|
|
NM_000170.3(GLDC):c.707G>C (p.Arg236Pro)
|
rs772832052
|
|
NM_000170.3(GLDC):c.713+1G>A
|
rs903653902
|
|
NM_000170.3(GLDC):c.714-1G>A
|
rs2129898670
|
|
NM_000170.3(GLDC):c.734_735delinsT (p.Glu245fs)
|
|
|
NM_000170.3(GLDC):c.74del (p.Gly25fs)
|
|
|
NM_000170.3(GLDC):c.754del (p.Met252fs)
|
|
|
NM_000170.3(GLDC):c.773_774insGACAGTA (p.Asp258fs)
|
|
|
NM_000170.3(GLDC):c.793del (p.Gln265fs)
|
rs386833586
|
|
NM_000170.3(GLDC):c.796T>G (p.Tyr266Asp)
|
rs1818705322
|
|
NM_000170.3(GLDC):c.808G>T (p.Glu270Ter)
|
rs386833588
|
|
NM_000170.3(GLDC):c.811G>C (p.Gly271Arg)
|
|
|
NM_000170.3(GLDC):c.848C>G (p.Ala283Gly)
|
rs2129898042
|
|
NM_000170.3(GLDC):c.850C>A (p.His284Asn)
|
|
|
NM_000170.3(GLDC):c.853C>T (p.Gln285Ter)
|
rs1818703974
|
|
NM_000170.3(GLDC):c.861+1G>T
|
rs386833590
|
|
NM_000170.3(GLDC):c.871T>C (p.Cys291Arg)
|
rs141014950
|
|
NM_000170.3(GLDC):c.887T>G (p.Leu296Arg)
|
rs386833591
|
|
NM_000170.3(GLDC):c.896T>A (p.Leu299Ter)
|
rs1818695432
|
|
NM_000170.3(GLDC):c.900C>A (p.Cys300Ter)
|
rs143256976
|
|
NM_000170.3(GLDC):c.911C>A (p.Pro304Gln)
|
rs1207147043
|
|
NM_000170.3(GLDC):c.937G>C (p.Ala313Pro)
|
rs386833592
|
|
NM_000170.3(GLDC):c.951_952del (p.Gln318fs)
|
|
|
NM_000170.3(GLDC):c.959_960del (p.Phe320fs)
|
|
|
NM_000170.3(GLDC):c.985C>A (p.Pro329Thr)
|
rs386833593
|
|
NM_000170.3(GLDC):c.989A>G (p.His330Arg)
|
rs1267445922
|
|
NM_000179.3(MSH6):c.3822dup (p.Cys1275fs)
|
rs1553333346
|
|
NM_000190.4(HMBS):c.958del (p.Ala320fs)
|
rs1057518806
|
|
NM_000193.4(SHH):c.206A>T (p.Asn69Ile)
|
rs777486607
|
|
NM_000210.4(ITGA6):c.*91AGA[1]
|
rs863223349
|
|
NM_000217.3(KCNA1):c.1186G>C (p.Gly396Arg)
|
rs2137673957
|
|
NM_000240.4(MAOA):c.233dup (p.Leu78fs)
|
rs2033551253
|
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
NM_000264.5(PTCH1):c.1503+3A>G
|
rs878853846
|
|
NM_000264.5(PTCH1):c.1991_1997del (p.Leu664fs)
|
rs1588574984
|
|
NM_000264.5(PTCH1):c.456_457del (p.Met152fs)
|
rs1588622713
|
|
NM_000284.4(PDHA1):c.1045G>A (p.Ala349Thr)
|
rs886044701
|
|
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)
|
rs1555935486
|
|
NM_000284.4(PDHA1):c.1060A>C (p.Thr354Pro)
|
rs1157736285
|
|
NM_000284.4(PDHA1):c.1098C>A (p.Tyr366Ter)
|
rs2063246734
|
|
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)
|
rs2147189334
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)
|
|
|
NM_000284.4(PDHA1):c.1158_1159insCAGTGGATCAAGTTTA (p.Lys387fs)
|
|
|
NM_000284.4(PDHA1):c.195dup (p.Arg66fs)
|
|
|
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)
|
rs863224148
|
|
NM_000284.4(PDHA1):c.291+1_418+1dup
|
|
|
NM_000284.4(PDHA1):c.300_301dup (p.Cys101fs)
|
rs1569190422
|
|
NM_000284.4(PDHA1):c.355C>T (p.Arg119Trp)
|
rs2147176072
|
|
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)
|
rs199959402
|
|
NM_000284.4(PDHA1):c.383G>A (p.Gly128Asp)
|
|
|
NM_000284.4(PDHA1):c.455C>T (p.Ser152Leu)
|
rs1555933954
|
|
NM_000284.4(PDHA1):c.461A>G (p.His154Arg)
|
rs1131692230
|
|
NM_000284.4(PDHA1):c.465G>T (p.Met155Ile)
|
|
|
NM_000284.4(PDHA1):c.46del (p.Ser16fs)
|
rs2147168716
|
|
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)
|
rs1555933963
|
|
NM_000284.4(PDHA1):c.511G>A (p.Val171Met)
|
|
|
NM_000284.4(PDHA1):c.518T>C (p.Leu173Pro)
|
|
|
NM_000284.4(PDHA1):c.536T>G (p.Leu179Arg)
|
rs1555934165
|
|
NM_000284.4(PDHA1):c.57+2531T>C
|
rs2063135938
|
|
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)
|
rs137853254
|
|
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)
|
rs2147180742
|
|
NM_000284.4(PDHA1):c.640T>G (p.Trp214Gly)
|
|
|
NM_000284.4(PDHA1):c.679T>C (p.Tyr227His)
|
rs2147180839
|
|
NM_000284.4(PDHA1):c.685A>T (p.Met229Leu)
|
rs2147180851
|
|
NM_000284.4(PDHA1):c.692C>G (p.Thr231Arg)
|
rs1272572107
|
|
NM_000284.4(PDHA1):c.692C>T (p.Thr231Met)
|
|
|
NM_000284.4(PDHA1):c.749C>T (p.Pro250Leu)
|
rs1602227679
|
|
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
|
|
|
NM_000284.4(PDHA1):c.788G>T (p.Arg263Leu)
|
|
|
NM_000284.4(PDHA1):c.791_792del (p.Glu264fs)
|
rs1569191879
|
|
NM_000284.4(PDHA1):c.868C>T (p.His290Tyr)
|
rs2147184502
|
|
NM_000284.4(PDHA1):c.896_899delTCAG (p.Ser300fs)
|
rs2147184540
|
|
NM_000284.4(PDHA1):c.899+2T>C
|
|
|
NM_000284.4(PDHA1):c.930AAG[3] (p.Arg311_Ser312insArg)
|
|
|
NM_000284.4(PDHA1):c.936_939del (p.Ser312fs)
|
rs863224153
|
|
NM_000284.4(PDHA1):c.989C>G (p.Ala330Gly)
|
|
|
NM_000286.3(PEX12):c.1044ACA[1] (p.Gln349del)
|
rs267608184
|
|
NM_000286.3(PEX12):c.126+2T>A
|
rs1555549902
|
|
NM_000286.3(PEX12):c.140C>G (p.Ser47Ter)
|
|
|
NM_000286.3(PEX12):c.190_194del (p.Thr64fs)
|
rs1214971073
|
|
NM_000286.3(PEX12):c.1_2del (p.Met1fs)
|
rs1555549923
|
|
NM_000286.3(PEX12):c.222T>A (p.Tyr74Ter)
|
rs765404768
|
|
NM_000286.3(PEX12):c.223_224del (p.Leu75fs)
|
rs1555549876
|
|
NM_000286.3(PEX12):c.268_271del (p.Lys90fs)
|
rs61752100
|
|
NM_000286.3(PEX12):c.329dup (p.Gln111fs)
|
|
|
NM_000286.3(PEX12):c.334C>T (p.Gln112Ter)
|
rs776731688
|
|
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)
|
rs751058068
|
|
NM_000286.3(PEX12):c.363del (p.Leu122fs)
|
|
|
NM_000286.3(PEX12):c.429_431inv (p.Tyr143_Ser144delinsTer)
|
|
|
NM_000286.3(PEX12):c.445_454del (p.Ser149fs)
|
rs1567730901
|
|
NM_000286.3(PEX12):c.460C>T (p.Arg154Ter)
|
rs1555549855
|
|
NM_000286.3(PEX12):c.511del (p.Glu171fs)
|
rs945104524
|
|
NM_000286.3(PEX12):c.530AAC[1] (p.Gln178del)
|
rs61752102
|
|
NM_000286.3(PEX12):c.543C>A (p.Tyr181Ter)
|
|
|
NM_000286.3(PEX12):c.573_574dup (p.Leu192fs)
|
|
|
NM_000286.3(PEX12):c.625C>T (p.Gln209Ter)
|
rs61752106
|
|
NM_000286.3(PEX12):c.644del (p.Pro215fs)
|
rs1199283977
|
|
NM_000286.3(PEX12):c.664C>T (p.Gln222Ter)
|
rs1555549841
|
|
NM_000286.3(PEX12):c.684_687del (p.Ser229fs)
|
rs62642859
|
|
NM_000286.3(PEX12):c.687_690del (p.Ser229fs)
|
rs1555549769
|
|
NM_000286.3(PEX12):c.69_76dup (p.Gln26delinsArgTer)
|
rs1238451790
|
|
NM_000286.3(PEX12):c.771del (p.Leu258fs)
|
rs1555549754
|
|
NM_000286.3(PEX12):c.781del (p.Asp262fs)
|
rs754193088
|
|
NM_000286.3(PEX12):c.789G>A (p.Trp263Ter)
|
rs747099919
|
|
NM_000286.3(PEX12):c.808del (p.Gln270fs)
|
|
|
NM_000286.3(PEX12):c.876_877insTT (p.Asp293fs)
|
|
|
NM_000286.3(PEX12):c.88_89del (p.Met30fs)
|
rs1555549909
|
|
NM_000286.3(PEX12):c.894del (p.Lys299_Met300insTer)
|
rs398123302
|
|
NM_000286.3(PEX12):c.910_911del (p.Cys304fs)
|
rs867245161
|
|
NM_000286.3(PEX12):c.920_921del (p.Cys307fs)
|
rs2142228928
|
|
NM_000286.3(PEX12):c.961_964del (p.Gly321fs)
|
rs749650201
|
|
NM_000286.3(PEX12):c.969_970del (p.Phe324fs)
|
rs2072781707
|
|
NM_000286.3(PEX12):c.978C>A (p.Tyr326Ter)
|
rs941358133
|
|
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)
|
rs764657253
|
|
NM_000287.4(PEX6):c.1046+1G>A
|
rs1554127968
|
|
NM_000287.4(PEX6):c.1046+1G>T
|
|
|
NM_000287.4(PEX6):c.1094del (p.Val365fs)
|
|
|
NM_000287.4(PEX6):c.1119del (p.Lys374fs)
|
|
|
NM_000287.4(PEX6):c.1127_1128del (p.Pro376fs)
|
|
|
NM_000287.4(PEX6):c.1130+1G>A
|
rs267608213
|
|
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
|
|
|
NM_000287.4(PEX6):c.1220C>A (p.Thr407Asn)
|
rs886043987
|
|
NM_000287.4(PEX6):c.1220CCT[1] (p.Ser408del)
|
|
|
NM_000287.4(PEX6):c.1234-2A>G
|
rs2114247797
|
|
NM_000287.4(PEX6):c.1315del (p.Glu439fs)
|
|
|
NM_000287.4(PEX6):c.133G>T (p.Glu45Ter)
|
rs1356280167
|
|
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)
|
rs1554127491
|
|
NM_000287.4(PEX6):c.1367+1G>A
|
rs1769988075
|
|
NM_000287.4(PEX6):c.1367+2T>C
|
|
|
NM_000287.4(PEX6):c.1368-2del
|
rs1554127415
|
|
NM_000287.4(PEX6):c.1402_1403del (p.Leu468fs)
|
|
|
NM_000287.4(PEX6):c.1415del (p.Pro472fs)
|
rs267608219
|
|
NM_000287.4(PEX6):c.1479+1G>A
|
|
|
NM_000287.4(PEX6):c.1479+2del
|
rs1554127383
|
|
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)
|
rs374396138
|
|
NM_000287.4(PEX6):c.160_243del (p.Val54_Leu81del)
|
rs1770436260
|
|
NM_000287.4(PEX6):c.1640_1641del (p.Val547fs)
|
|
|
NM_000287.4(PEX6):c.1689-1G>A
|
rs267608223
|
|
NM_000287.4(PEX6):c.170T>C (p.Leu57Pro)
|
rs61752140
|
|
NM_000287.4(PEX6):c.1715C>T (p.Thr572Ile)
|
rs61753224
|
|
NM_000287.4(PEX6):c.1884+1G>A
|
|
|
NM_000287.4(PEX6):c.1885-1G>A
|
|
|
NM_000287.4(PEX6):c.1963_1965delinsCT (p.Ala656fs)
|
|
|
NM_000287.4(PEX6):c.2020_2022delinsGTCTCTTATACACATCTGT (p.Leu674fs)
|
|
|
NM_000287.4(PEX6):c.2082del (p.Gly695fs)
|
rs766483138
|
|
NM_000287.4(PEX6):c.2094+1G>A
|
rs1581760572
|
|
NM_000287.4(PEX6):c.2095-2A>G
|
|
|
NM_000287.4(PEX6):c.2124_2127del (p.Gly709fs)
|
|
|
NM_000287.4(PEX6):c.2154_2155del (p.Glu719fs)
|
|
|
NM_000287.4(PEX6):c.2165_2166del (p.Gln722fs)
|
|
|
NM_000287.4(PEX6):c.2227del (p.His743fs)
|
|
|
NM_000287.4(PEX6):c.2265_2266insCTCCCCAGCCT (p.Ala756fs)
|
|
|
NM_000287.4(PEX6):c.2289del (p.Thr764fs)
|
|
|
NM_000287.4(PEX6):c.2313_2315delinsTGCCCCTCCCT (p.Glu772fs)
|
|
|
NM_000287.4(PEX6):c.2361del (p.Val788fs)
|
|
|
NM_000287.4(PEX6):c.2363-2A>C
|
rs1769772582
|
|
NM_000287.4(PEX6):c.2363-2A>G
|
|
|
NM_000287.4(PEX6):c.2364_2365del
|
rs755716911
|
|
NM_000287.4(PEX6):c.2435_2436delinsAA (p.Arg812Gln)
|
rs2114238521
|
|
NM_000287.4(PEX6):c.2439dup (p.Arg814fs)
|
rs1554126955
|
|
NM_000287.4(PEX6):c.2462del (p.Val821fs)
|
|
|
NM_000287.4(PEX6):c.2471+1G>A
|
|
|
NM_000287.4(PEX6):c.2472-1G>A
|
|
|
NM_000287.4(PEX6):c.2472-2A>G
|
rs267608242
|
|
NM_000287.4(PEX6):c.2482C>T (p.Gln828Ter)
|
rs267608243
|
|
NM_000287.4(PEX6):c.2563del (p.Asp855fs)
|
|
|
NM_000287.4(PEX6):c.2584G>C (p.Gly862Arg)
|
|
|
NM_000287.4(PEX6):c.2589-1G>A
|
|
|
NM_000287.4(PEX6):c.2589-1G>T
|
rs2114237186
|
|
NM_000287.4(PEX6):c.2663G>C (p.Arg888Pro)
|
rs267608247
|
|
NM_000287.4(PEX6):c.2666+1G>T
|
rs2114236937
|
|
NM_000287.4(PEX6):c.2667-2A>G
|
rs267608249
|
|
NM_000287.4(PEX6):c.2692del (p.Leu898fs)
|
rs1554126798
|
|
NM_000287.4(PEX6):c.2T>G (p.Met1Arg)
|
rs1554128597
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
NM_000287.4(PEX6):c.385_388del (p.Glu129fs)
|
rs1554128501
|
|
NM_000287.4(PEX6):c.406delinsAT (p.Pro136fs)
|
rs1554128488
|
|
NM_000287.4(PEX6):c.42_43dup (p.Glu15fs)
|
rs1554128586
|
|
NM_000287.4(PEX6):c.462del (p.Leu155fs)
|
rs1554128476
|
|
NM_000287.4(PEX6):c.506_507del (p.Glu169fs)
|
rs1554128461
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
|
NM_000287.4(PEX6):c.600del (p.Thr201fs)
|
|
|
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)
|
rs61753215
|
|
NM_000287.4(PEX6):c.872_873del (p.Leu291fs)
|
|
|
NM_000287.4(PEX6):c.883-2A>G
|
|
|
NM_000287.4(PEX6):c.883-6_887del
|
|
|
NM_000287.4(PEX6):c.890T>A (p.Leu297Ter)
|
|
|
NM_000287.4(PEX6):c.929C>T (p.Ser310Leu)
|
rs2150236110
|
|
NM_000287.4(PEX6):c.954del (p.Arg319fs)
|
|
|
NM_000288.4(PEX7):c.122_123del (p.Gly41fs)
|
|
|
NM_000288.4(PEX7):c.130+1G>C
|
rs267608253
|
|
NM_000288.4(PEX7):c.131-1G>A
|
rs2115129048
|
|
NM_000288.4(PEX7):c.131-2A>G
|
rs1554328790
|
|
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs)
|
rs62636519
|
|
NM_000288.4(PEX7):c.183del (p.Phe61fs)
|
rs774131564
|
|
NM_000288.4(PEX7):c.188+1G>A
|
rs267608254
|
|
NM_000288.4(PEX7):c.188+2del
|
|
|
NM_000288.4(PEX7):c.189-2A>G
|
rs1554328952
|
|
NM_000288.4(PEX7):c.206del (p.Gly69fs)
|
|
|
NM_000288.4(PEX7):c.224G>A (p.Trp75Ter)
|
|
|
NM_000288.4(PEX7):c.233del (p.Asn78fs)
|
rs1582732852
|
|
NM_000288.4(PEX7):c.257G>A (p.Cys86Tyr)
|
rs61753240
|
|
NM_000288.4(PEX7):c.277C>T (p.Gln93Ter)
|
rs763514968
|
|
NM_000288.4(PEX7):c.284G>A (p.Trp95Ter)
|
|
|
NM_000288.4(PEX7):c.297del (p.Ala100fs)
|
|
|
NM_000288.4(PEX7):c.31_56del (p.Met11fs)
|
rs1057516961
|
|
NM_000288.4(PEX7):c.323_324del (p.Lys108fs)
|
|
|
NM_000288.4(PEX7):c.334C>T (p.Gln112Ter)
|
rs62653604
|
|
NM_000288.4(PEX7):c.339+2T>C
|
rs1057517059
|
|
NM_000288.4(PEX7):c.340-1G>T
|
rs780751870
|
|
NM_000288.4(PEX7):c.361C>T (p.Gln121Ter)
|
|
|
NM_000288.4(PEX7):c.363_526+230del
|
rs1582744649
|
|
NM_000288.4(PEX7):c.373G>T (p.Glu125Ter)
|
rs769137963
|
|
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter)
|
rs2115170536
|
|
NM_000288.4(PEX7):c.400G>A (p.Asp134Asn)
|
rs764346452
|
|
NM_000288.4(PEX7):c.418-1G>A
|
rs773406384
|
|
NM_000288.4(PEX7):c.418-1G>C
|
rs773406384
|
|
NM_000288.4(PEX7):c.463G>T (p.Glu155Ter)
|
|
|
NM_000288.4(PEX7):c.468_471dup (p.Ile158fs)
|
|
|
NM_000288.4(PEX7):c.46_47del (p.Gly16fs)
|
|
|
NM_000288.4(PEX7):c.488G>A (p.Trp163Ter)
|
rs1173171051
|
|
NM_000288.4(PEX7):c.506GTT[1] (p.Cys170del)
|
|
|
NM_000288.4(PEX7):c.508del (p.Cys170fs)
|
rs1057516827
|
|
NM_000288.4(PEX7):c.513del (p.Phe171fs)
|
|
|
NM_000288.4(PEX7):c.527-2A>G
|
rs1057517339
|
|
NM_000288.4(PEX7):c.538_539del (p.Leu180fs)
|
rs1582757650
|
|
NM_000288.4(PEX7):c.545dup (p.Trp183fs)
|
rs1057516574
|
|
NM_000288.4(PEX7):c.549G>A (p.Trp183Ter)
|
|
|
NM_000288.4(PEX7):c.60C>G (p.Tyr20Ter)
|
rs1057516882
|
|
NM_000288.4(PEX7):c.622A>T (p.Lys208Ter)
|
|
|
NM_000288.4(PEX7):c.633+1G>A
|
rs1057516989
|
|
NM_000288.4(PEX7):c.634-2A>G
|
|
|
NM_000288.4(PEX7):c.638dup (p.Leu213fs)
|
|
|
NM_000288.4(PEX7):c.641T>C (p.Leu214Pro)
|
rs1554333880
|
|
NM_000288.4(PEX7):c.668T>A (p.Leu223Ter)
|
|
|
NM_000288.4(PEX7):c.682_683delinsA (p.Leu228fs)
|
|
|
NM_000288.4(PEX7):c.694C>T (p.Arg232Ter)
|
rs121909153
|
|
NM_000288.4(PEX7):c.735dup (p.Arg246Ter)
|
rs1582760004
|
|
NM_000288.4(PEX7):c.736_747+17del
|
rs1057517257
|
|
NM_000288.4(PEX7):c.747+1G>A
|
|
|
NM_000288.4(PEX7):c.747+2T>A
|
|
|
NM_000288.4(PEX7):c.747del (p.Lys249fs)
|
|
|
NM_000288.4(PEX7):c.748-2A>G
|
rs778862698
|
|
NM_000288.4(PEX7):c.74C>T (p.Ser25Phe)
|
rs61753236
|
|
NM_000288.4(PEX7):c.774_784del (p.Ala259fs)
|
rs1057516824
|
|
NM_000288.4(PEX7):c.803+1G>A
|
|
|
NM_000288.4(PEX7):c.806dup (p.Trp270fs)
|
rs1464766327
|
|
NM_000288.4(PEX7):c.817del (p.Ser273fs)
|
rs1554335926
|
|
NM_000288.4(PEX7):c.81C>G (p.Tyr27Ter)
|
rs1057516737
|
|
NM_000288.4(PEX7):c.870_871insCAA (p.Cys290_Gly291insGln)
|
rs267608257
|
|
NM_000288.4(PEX7):c.871_874del (p.Cys290_Gly291insTer)
|
rs1554335937
|
|
NM_000303.3(PMM2):c.584A>G (p.His195Arg)
|
rs1596489887
|
|
NM_000306.4(POU1F1):c.215-3C>G
|
rs754584667
|
|
NM_000306.4(POU1F1):c.500A>C (p.Gln167Pro)
|
rs1559614730
|
|
NM_000306.4(POU1F1):c.515G>A (p.Arg172Gln)
|
rs104893765
|
|
NM_000306.4(POU1F1):c.638_642del (p.Arg213fs)
|
rs772390221
|
|
NM_000306.4(POU1F1):c.662T>C (p.Ile221Thr)
|
rs2106927025
|
|
NM_000308.4(CTSA):c.445-18_447del
|
rs1987030082
|
|
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)
|
rs386833631
|
|
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del)
|
rs386833637
|
|
NM_000310.4(PPT1):c.708_712delinsAGA (p.Pro238fs)
|
|
|
NM_000311.5(PRNP):c.392G>A (p.Gly131Glu)
|
rs74315410
|
|
NM_000311.5(PRNP):c.392G>T (p.Gly131Val)
|
rs74315410
|
|
NM_000311.5(PRNP):c.532G>A (p.Asp178Asn)
|
rs74315403
|
|
NM_000311.5(PRNP):c.563C>G (p.Thr188Arg)
|
|
|
NM_000311.5(PRNP):c.650A>G (p.Gln217Arg)
|
rs74315406
|
|
NM_000314.8(PTEN):c.-116dup
|
rs1564801388
|
|
NM_000314.8(PTEN):c.-60dup
|
rs1564801473
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys)
|
rs61752119
|
|
NM_000318.3(PEX2):c.183G>A (p.Trp61Ter)
|
|
|
NM_000318.3(PEX2):c.188dup (p.Trp65fs)
|
|
|
NM_000318.3(PEX2):c.197_198del (p.Arg66fs)
|
|
|
NM_000318.3(PEX2):c.218del (p.Asn73fs)
|
rs1586070089
|
|
NM_000318.3(PEX2):c.232C>T (p.Gln78Ter)
|
rs1586070043
|
|
NM_000318.3(PEX2):c.233dup (p.Ser79fs)
|
|
|
NM_000318.3(PEX2):c.253dup (p.Tyr85fs)
|
|
|
NM_000318.3(PEX2):c.260del (p.Asn87fs)
|
|
|
NM_000318.3(PEX2):c.304C>T (p.Gln102Ter)
|
rs200065382
|
|
NM_000318.3(PEX2):c.310del (p.Ile104fs)
|
|
|
NM_000318.3(PEX2):c.310dup (p.Ile104fs)
|
rs1235008965
|
|
NM_000318.3(PEX2):c.314G>A (p.Trp105Ter)
|
|
|
NM_000318.3(PEX2):c.325dup (p.Cys109fs)
|
rs1052655986
|
|
NM_000318.3(PEX2):c.339_345del (p.Gly113_Arg114insTer)
|
rs764771123
|
|
NM_000318.3(PEX2):c.34_37del (p.Asn12fs)
|
rs1174648906
|
|
NM_000318.3(PEX2):c.352del (p.Glu118fs)
|
|
|
NM_000318.3(PEX2):c.354_355del (p.Arg119fs)
|
rs1554584505
|
|
NM_000318.3(PEX2):c.395_396del (p.Phe132fs)
|
|
|
NM_000318.3(PEX2):c.472del (p.Leu158fs)
|
rs1554584487
|
|
NM_000318.3(PEX2):c.502_503del (p.Glu168fs)
|
rs1554584474
|
|
NM_000318.3(PEX2):c.521_524del (p.His174fs)
|
|
|
NM_000318.3(PEX2):c.550delinsCC (p.Cys184fs)
|
|
|
NM_000318.3(PEX2):c.610_611del (p.Leu204fs)
|
|
|
NM_000318.3(PEX2):c.661_676dup (p.Pro226fs)
|
|
|
NM_000318.3(PEX2):c.791_795del (p.Cys264fs)
|
|
|
NM_000318.3(PEX2):c.807_808insT (p.Ser270Ter)
|
|
|
NM_000318.3(PEX2):c.831delinsGTTTCTTA (p.Tyr277Ter)
|
|
|
NM_000318.3(PEX2):c.834_838del (p.Phe278fs)
|
rs267608188
|
|
NM_000330.4(RS1):c.185-3090C>T
|
rs1569231336
|
|
NM_000330.4(RS1):c.326+1111del
|
|
|
NM_000345.4(SNCA):c.174G>C (p.Lys58Asn)
|
|
|
NM_000345.4(SNCA):c.88G>C (p.Ala30Pro)
|
rs104893878
|
|
NM_000368.5(TSC1):c.1033del (p.Thr345fs)
|
rs1564488264
|
|
NM_000368.5(TSC1):c.107-1G>C
|
|
|
NM_000368.5(TSC1):c.1264-2A>G
|
|
|
NM_000368.5(TSC1):c.2042-2A>G
|
rs118203628
|
|
NM_000368.5(TSC1):c.2893_2894dup (p.Leu965fs)
|
|
|
NM_000368.5(TSC1):c.35_69del (p.Ala12fs)
|
|
|
NM_000368.5(TSC1):c.846del (p.Ala283fs)
|
rs1846010451
|
|
NM_000370.3(TTPA):c.13C>T (p.Arg5Ter)
|
rs1008240677
|
|
NM_000370.3(TTPA):c.148delinsATG (p.Ser50fs)
|
|
|
NM_000370.3(TTPA):c.172G>C (p.Ala58Pro)
|
rs982650476
|
|
NM_000370.3(TTPA):c.173C>A (p.Ala58Asp)
|
rs1805742556
|
|
NM_000370.3(TTPA):c.182del (p.Phe61fs)
|
rs1805742175
|
|
NM_000370.3(TTPA):c.19C>T (p.Gln7Ter)
|
rs1351036862
|
|
NM_000370.3(TTPA):c.19del (p.Gln7fs)
|
rs760014795
|
|
NM_000370.3(TTPA):c.1A>T (p.Met1Leu)
|
rs1408863841
|
|
NM_000370.3(TTPA):c.204+1G>T
|
|
|
NM_000370.3(TTPA):c.214_215delinsC (p.Asn72fs)
|
|
|
NM_000370.3(TTPA):c.223A>T (p.Lys75Ter)
|
|
|
NM_000370.3(TTPA):c.227_229delinsATT (p.Trp76_Arg77delinsTyrTer)
|
rs1554524061
|
|
NM_000370.3(TTPA):c.2T>A (p.Met1Lys)
|
rs786204758
|
|
NM_000370.3(TTPA):c.302_309del (p.His101fs)
|
|
|
NM_000370.3(TTPA):c.313A>T (p.Arg105Ter)
|
rs1057516423
|
|
NM_000370.3(TTPA):c.339del (p.Val114fs)
|
rs1563363293
|
|
NM_000370.3(TTPA):c.358+2T>C
|
|
|
NM_000370.3(TTPA):c.358+2T>G
|
|
|
NM_000370.3(TTPA):c.381dup (p.Thr128fs)
|
|
|
NM_000370.3(TTPA):c.438_439delinsCGATCACAGATGTGTA (p.Glu146fs)
|
|
|
NM_000370.3(TTPA):c.441del (p.Glu148fs)
|
rs1057517448
|
|
NM_000370.3(TTPA):c.467_469delinsT (p.Ala156fs)
|
|
|
NM_000370.3(TTPA):c.487del (p.Trp163fs)
|
rs397515378
|
|
NM_000370.3(TTPA):c.489del (p.Trp163fs)
|
|
|
NM_000370.3(TTPA):c.557C>A (p.Ser186Ter)
|
rs1554605498
|
|
NM_000370.3(TTPA):c.588del (p.Leu196_Ile197insTer)
|
|
|
NM_000370.3(TTPA):c.74del (p.Gln25fs)
|
|
|
NM_000370.3(TTPA):c.80del (p.Gly27fs)
|
|
|
NM_000370.3(TTPA):c.83_105del (p.Leu28fs)
|
rs1554525128
|
|
NM_000370.3(TTPA):c.84_91dup (p.Leu31fs)
|
rs1805745954
|
|
NM_000370.3(TTPA):c.88_118del (p.Ala30fs)
|
rs1554525125
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000391.4(TPP1):c.1012C>T (p.Gln338Ter)
|
|
|
NM_000391.4(TPP1):c.1020_1021del (p.Asn341fs)
|
|
|
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)
|
rs1554901784
|
|
NM_000391.4(TPP1):c.1076-1G>A
|
rs1554901731
|
|
NM_000391.4(TPP1):c.1076-2A>G
|
rs1424116749
|
|
NM_000391.4(TPP1):c.1076-2A>T
|
rs1424116749
|
|
NM_000391.4(TPP1):c.1104dup (p.Ser369fs)
|
|
|
NM_000391.4(TPP1):c.1145+1G>A
|
rs113019349
|
|
NM_000391.4(TPP1):c.1146-1G>A
|
rs1131691676
|
|
NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs)
|
|
|
NM_000391.4(TPP1):c.1199_1200del (p.Thr400fs)
|
|
|
NM_000391.4(TPP1):c.1213_1214delinsT (p.Asp405fs)
|
|
|
NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs)
|
|
|
NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter)
|
rs1057516319
|
|
NM_000391.4(TPP1):c.1333_1344dup (p.Ser445_Ala448dup)
|
rs1554901580
|
|
NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro)
|
rs119455956
|
|
NM_000391.4(TPP1):c.1361C>A (p.Ala454Glu)
|
rs121908201
|
|
NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer)
|
rs1554901576
|
|
NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser)
|
rs864309505
|
|
NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)
|
rs786204753
|
|
NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs)
|
rs1407106889
|
|
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs)
|
rs1855559514
|
|
NM_000391.4(TPP1):c.1449del (p.Ile484fs)
|
rs1057516264
|
|
NM_000391.4(TPP1):c.1449dup (p.Ile484fs)
|
rs1057516264
|
|
NM_000391.4(TPP1):c.147del (p.Thr50fs)
|
|
|
NM_000391.4(TPP1):c.1551+1G>A
|
rs786204553
|
|
NM_000391.4(TPP1):c.1551+1G>T
|
rs786204553
|
|
NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs)
|
rs1554901463
|
|
NM_000391.4(TPP1):c.1661dup (p.Ala555fs)
|
rs1057516579
|
|
NM_000391.4(TPP1):c.17+1G>A
|
rs779615685
|
|
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)
|
rs1554902216
|
|
NM_000391.4(TPP1):c.184del (p.Ser62fs)
|
rs1554902217
|
|
NM_000391.4(TPP1):c.230-1G>C
|
rs1057516667
|
|
NM_000391.4(TPP1):c.230-2A>G
|
|
|
NM_000391.4(TPP1):c.238dup (p.Leu80fs)
|
|
|
NM_000391.4(TPP1):c.262_270delinsAT (p.Leu88fs)
|
|
|
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)
|
rs202189057
|
|
NM_000391.4(TPP1):c.357dup (p.Leu120fs)
|
rs1554902085
|
|
NM_000391.4(TPP1):c.380+5G>A
|
rs1564855725
|
|
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)
|
rs121908204
|
|
NM_000391.4(TPP1):c.381-2A>G
|
rs1554902052
|
|
NM_000391.4(TPP1):c.422dup (p.Tyr141Ter)
|
rs1554902043
|
|
NM_000391.4(TPP1):c.456G>C (p.Arg152Ser)
|
rs869025274
|
|
NM_000391.4(TPP1):c.457_490del (p.Ser153fs)
|
rs878855331
|
|
NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter)
|
rs553522118
|
|
NM_000391.4(TPP1):c.509-1G>T
|
rs56144125
|
|
NM_000391.4(TPP1):c.533del (p.Pro178fs)
|
rs1855599044
|
|
NM_000391.4(TPP1):c.605C>T (p.Pro202Leu)
|
rs121908205
|
|
NM_000391.4(TPP1):c.609dup (p.Val204fs)
|
rs1057516366
|
|
NM_000391.4(TPP1):c.636_638delinsA (p.Ser213fs)
|
|
|
NM_000391.4(TPP1):c.638C>A (p.Ser213Ter)
|
|
|
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
|
|
|
NM_000391.4(TPP1):c.687+2T>G
|
rs1057516945
|
|
NM_000391.4(TPP1):c.689del (p.Phe230fs)
|
rs1554901898
|
|
NM_000391.4(TPP1):c.760C>T (p.Gln254Ter)
|
|
|
NM_000391.4(TPP1):c.767C>A (p.Ser256Ter)
|
|
|
NM_000391.4(TPP1):c.819del (p.Ser274fs)
|
rs1057517313
|
|
NM_000391.4(TPP1):c.829G>A (p.Val277Met)
|
rs121908207
|
|
NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)
|
rs119455958
|
|
NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter)
|
|
|
NM_000391.4(TPP1):c.904G>T (p.Glu302Ter)
|
|
|
NM_000391.4(TPP1):c.938_939del (p.Asn313fs)
|
rs886041487
|
|
NM_000391.4(TPP1):c.972_979del (p.Ser324fs)
|
rs778232650
|
|
NM_000411.8(HLCS):c.1681dup
|
|
|
NM_000414.3(HSD17B4):c.[64G>T];[819G>T]
|
|
|
NM_000414.4(HSD17B4):c.1001del (p.Pro334fs)
|
|
|
NM_000414.4(HSD17B4):c.1021_1022insGTTGATT (p.Glu341delinsGlyTer)
|
|
|
NM_000414.4(HSD17B4):c.1092_1095del (p.Ile364fs)
|
|
|
NM_000414.4(HSD17B4):c.1115C>T (p.Ser372Phe)
|
rs1198548214
|
|
NM_000414.4(HSD17B4):c.1121del (p.Leu374fs)
|
rs2126781231
|
|
NM_000414.4(HSD17B4):c.113-1G>T
|
rs1224475289
|
|
NM_000414.4(HSD17B4):c.1132G>A (p.Gly378Arg)
|
rs1006852881
|
|
NM_000414.4(HSD17B4):c.1135_1136insACTGTCTC (p.Val379fs)
|
|
|
NM_000414.4(HSD17B4):c.1168G>T (p.Gly390Ter)
|
|
|
NM_000414.4(HSD17B4):c.1210-1G>A
|
rs1554065671
|
|
NM_000414.4(HSD17B4):c.1214T>C (p.Leu405Pro)
|
|
|
NM_000414.4(HSD17B4):c.1231_1232del (p.Leu411fs)
|
|
|
NM_000414.4(HSD17B4):c.1233dup (p.Glu412fs)
|
rs2126790164
|
|
NM_000414.4(HSD17B4):c.1261+1G>T
|
|
|
NM_000414.4(HSD17B4):c.1262-1G>A
|
rs2126806430
|
|
NM_000414.4(HSD17B4):c.1262-1G>C
|
|
|
NM_000414.4(HSD17B4):c.1262-2A>G
|
rs1751692890
|
|
NM_000414.4(HSD17B4):c.1268T>G (p.Leu423Ter)
|
rs1057516735
|
|
NM_000414.4(HSD17B4):c.1300_1303del (p.Asp434fs)
|
rs1057517045
|
|
NM_000414.4(HSD17B4):c.1328_1329del (p.Met443fs)
|
|
|
NM_000414.4(HSD17B4):c.1333+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1334-2A>T
|
rs1554066421
|
|
NM_000414.4(HSD17B4):c.1369A>G (p.Asn457Asp)
|
rs137853097
|
|
NM_000414.4(HSD17B4):c.1369A>T (p.Asn457Tyr)
|
rs137853097
|
|
NM_000414.4(HSD17B4):c.1383_1384del (p.Phe462fs)
|
rs2126814260
|
|
NM_000414.4(HSD17B4):c.1438-1G>A
|
rs1554067009
|
|
NM_000414.4(HSD17B4):c.1438-1G>C
|
|
|
NM_000414.4(HSD17B4):c.1438-2A>C
|
rs1057516273
|
|
NM_000414.4(HSD17B4):c.1440_1441del (p.Ala481fs)
|
rs1057516859
|
|
NM_000414.4(HSD17B4):c.1449_1451delinsA (p.Ile484fs)
|
|
|
NM_000414.4(HSD17B4):c.1472_1473del (p.Ala491fs)
|
|
|
NM_000414.4(HSD17B4):c.1480dup (p.Thr494fs)
|
|
|
NM_000414.4(HSD17B4):c.1488del (p.Thr497fs)
|
|
|
NM_000414.4(HSD17B4):c.1496_1497del (p.Leu499fs)
|
|
|
NM_000414.4(HSD17B4):c.1503+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1504-1G>A
|
|
|
NM_000414.4(HSD17B4):c.1504-2A>C
|
rs1554068134
|
|
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
|
NM_000414.4(HSD17B4):c.1544A>G (p.His515Arg)
|
rs1753477498
|
|
NM_000414.4(HSD17B4):c.1573+1G>A
|
|
|
NM_000414.4(HSD17B4):c.1573+1G>T
|
|
|
NM_000414.4(HSD17B4):c.1595A>G (p.His532Arg)
|
rs1554068272
|
|
NM_000414.4(HSD17B4):c.1597G>T (p.Gly533Ter)
|
|
|
NM_000414.4(HSD17B4):c.1605T>A (p.Cys535Ter)
|
|
|
NM_000414.4(HSD17B4):c.1628G>C (p.Arg543Pro)
|
rs201009485
|
|
NM_000414.4(HSD17B4):c.1630_1633dup (p.Leu545fs)
|
rs1057517323
|
|
NM_000414.4(HSD17B4):c.1635dup (p.Gln546fs)
|
|
|
NM_000414.4(HSD17B4):c.1636C>T (p.Gln546Ter)
|
|
|
NM_000414.4(HSD17B4):c.1660_1661del (p.Ser554fs)
|
|
|
NM_000414.4(HSD17B4):c.167delinsCT (p.Asp56fs)
|
|
|
NM_000414.4(HSD17B4):c.1681-1G>C
|
|
|
NM_000414.4(HSD17B4):c.1717_1718del (p.Leu573fs)
|
rs1057516936
|
|
NM_000414.4(HSD17B4):c.1736del (p.Lys579fs)
|
|
|
NM_000414.4(HSD17B4):c.1748_1749del (p.Arg583fs)
|
rs1554068426
|
|
NM_000414.4(HSD17B4):c.1768-1G>A
|
|
|
NM_000414.4(HSD17B4):c.177del (p.Glu60fs)
|
|
|
NM_000414.4(HSD17B4):c.179delinsTT (p.Glu60fs)
|
|
|
NM_000414.4(HSD17B4):c.1854+2T>C
|
|
|
NM_000414.4(HSD17B4):c.1907del (p.Lys636fs)
|
rs1057516312
|
|
NM_000414.4(HSD17B4):c.1936_1940del (p.Val646fs)
|
rs1057517152
|
|
NM_000414.4(HSD17B4):c.1973del (p.Gly658fs)
|
|
|
NM_000414.4(HSD17B4):c.1993+2T>G
|
rs1554068960
|
|
NM_000414.4(HSD17B4):c.1994-1G>A
|
|
|
NM_000414.4(HSD17B4):c.1994-1G>C
|
|
|
NM_000414.4(HSD17B4):c.1994-2A>G
|
rs1554069592
|
|
NM_000414.4(HSD17B4):c.1A>C (p.Met1Leu)
|
rs1488399880
|
|
NM_000414.4(HSD17B4):c.2029C>T (p.Gln677Ter)
|
rs751646311
|
|
NM_000414.4(HSD17B4):c.2059del (p.Thr687fs)
|
|
|
NM_000414.4(HSD17B4):c.2071dup (p.Ser691fs)
|
|
|
NM_000414.4(HSD17B4):c.2072C>G (p.Ser691Ter)
|
|
|
NM_000414.4(HSD17B4):c.2121+1G>A
|
|
|
NM_000414.4(HSD17B4):c.2121+1G>C
|
rs1554069610
|
|
NM_000414.4(HSD17B4):c.212_216del (p.Ala71fs)
|
|
|
NM_000414.4(HSD17B4):c.220+2T>C
|
rs1231357043
|
|
NM_000414.4(HSD17B4):c.2207T>A (p.Leu736His)
|
rs1755036404
|
|
NM_000414.4(HSD17B4):c.220G>A (p.Asp74Asn)
|
|
|
NM_000414.4(HSD17B4):c.221-1G>C
|
rs1554062168
|
|
NM_000414.4(HSD17B4):c.241A>T (p.Lys81Ter)
|
|
|
NM_000414.4(HSD17B4):c.25_44del (p.Gly9fs)
|
|
|
NM_000414.4(HSD17B4):c.270del (p.Phe90fs)
|
rs1276397342
|
|
NM_000414.4(HSD17B4):c.280+1_280+3del
|
rs2126684546
|
|
NM_000414.4(HSD17B4):c.281-2A>G
|
rs1554062343
|
|
NM_000414.4(HSD17B4):c.290del (p.Val97fs)
|
|
|
NM_000414.4(HSD17B4):c.292A>G (p.Asn98Asp)
|
rs1561442127
|
|
NM_000414.4(HSD17B4):c.293A>T (p.Asn98Ile)
|
|
|
NM_000414.4(HSD17B4):c.294C>G (p.Asn98Lys)
|
|
|
NM_000414.4(HSD17B4):c.296dup (p.Asn99fs)
|
rs1057516672
|
|
NM_000414.4(HSD17B4):c.297_298delinsCAT (p.Ala100fs)
|
|
|
NM_000414.4(HSD17B4):c.298G>T (p.Ala100Ser)
|
rs1554062352
|
|
NM_000414.4(HSD17B4):c.303-1G>A
|
|
|
NM_000414.4(HSD17B4):c.349+1G>T
|
rs1057516958
|
|
NM_000414.4(HSD17B4):c.350-1G>A
|
|
|
NM_000414.4(HSD17B4):c.350-1G>T
|
|
|
NM_000414.4(HSD17B4):c.358del (p.His120fs)
|
|
|
NM_000414.4(HSD17B4):c.370_376delinsGGA (p.Leu124fs)
|
|
|
NM_000414.4(HSD17B4):c.393dup (p.Arg132fs)
|
|
|
NM_000414.4(HSD17B4):c.3G>A (p.Met1Ile)
|
rs1085307072
|
|
NM_000414.4(HSD17B4):c.435-2A>G
|
|
|
NM_000414.4(HSD17B4):c.435-2A>T
|
rs1171426785
|
|
NM_000414.4(HSD17B4):c.56_58+3del
|
rs1554059509
|
|
NM_000414.4(HSD17B4):c.581_612del (p.Pro194fs)
|
|
|
NM_000414.4(HSD17B4):c.587C>A (p.Ala196Glu)
|
|
|
NM_000414.4(HSD17B4):c.59-1G>A
|
|
|
NM_000414.4(HSD17B4):c.607_610del (p.Thr203fs)
|
rs1057516310
|
|
NM_000414.4(HSD17B4):c.623-1G>A
|
rs1554064083
|
|
NM_000414.4(HSD17B4):c.623-2A>G
|
|
|
NM_000414.4(HSD17B4):c.625_631del (p.Leu209fs)
|
|
|
NM_000414.4(HSD17B4):c.638_639del (p.Leu213fs)
|
|
|
NM_000414.4(HSD17B4):c.639_648del (p.Lys214fs)
|
|
|
NM_000414.4(HSD17B4):c.652G>T (p.Val218Leu)
|
rs1749878115
|
|
NM_000414.4(HSD17B4):c.652_656del (p.Val218fs)
|
|
|
NM_000414.4(HSD17B4):c.67C>T (p.Arg23Ter)
|
rs765702241
|
|
NM_000414.4(HSD17B4):c.698dup (p.Asn233fs)
|
rs2126740316
|
|
NM_000414.4(HSD17B4):c.709_712del (p.Phe237fs)
|
rs1057516750
|
|
NM_000414.4(HSD17B4):c.714+1G>C
|
|
|
NM_000414.4(HSD17B4):c.715-1G>A
|
|
|
NM_000414.4(HSD17B4):c.725del (p.Gly242fs)
|
|
|
NM_000414.4(HSD17B4):c.739+1G>A
|
rs1561456373
|
|
NM_000414.4(HSD17B4):c.739+1G>T
|
|
|
NM_000414.4(HSD17B4):c.739+2T>C
|
|
|
NM_000414.4(HSD17B4):c.740T>A (p.Leu247Ter)
|
|
|
NM_000414.4(HSD17B4):c.743G>T (p.Arg248Leu)
|
|
|
NM_000414.4(HSD17B4):c.752G>T (p.Arg251Leu)
|
|
|
NM_000414.4(HSD17B4):c.788del (p.Pro263fs)
|
rs1561457987
|
|
NM_000414.4(HSD17B4):c.868+1del
|
rs749532705
|
|
NM_000414.4(HSD17B4):c.872C>G (p.Ser291Ter)
|
rs1057516269
|
|
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer)
|
rs758055753
|
|
NM_000414.4(HSD17B4):c.947_948del (p.Ala316fs)
|
|
|
NM_000414.4(HSD17B4):c.972+1G>A
|
|
|
NM_000414.4(HSD17B4):c.972+1del
|
|
|
NM_000414.4(HSD17B4):c.973-2A>C
|
rs1057517118
|
|
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)
|
rs121434489
|
|
NM_000430.4(PAFAH1B1):c.282G>A (p.Trp94Ter)
|
rs2151660977
|
|
NM_000435.3(NOTCH3):c.1136G>C (p.Cys379Ser)
|
rs1599391986
|
|
NM_000435.3(NOTCH3):c.1162T>C (p.Cys388Arg)
|
rs1599391938
|
|
NM_000435.3(NOTCH3):c.1450T>G (p.Cys484Gly)
|
rs1555728965
|
|
NM_000435.3(NOTCH3):c.227G>A (p.Cys76Tyr)
|
rs1568362252
|
|
NM_000435.3(NOTCH3):c.323G>A (p.Cys108Tyr)
|
rs1555729584
|
|
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys)
|
rs28933696
|
|
NM_000466.3(PEX1):c.1074_1075del (p.Lys359fs)
|
rs1057517488
|
|
NM_000466.3(PEX1):c.1076del (p.Lys359fs)
|
rs1057517465
|
|
NM_000466.3(PEX1):c.1099C>T (p.Gln367Ter)
|
|
|
NM_000466.3(PEX1):c.1108del (p.Ile370fs)
|
rs61750406
|
|
NM_000466.3(PEX1):c.1131del (p.Asp378fs)
|
rs886043479
|
|
NM_000466.3(PEX1):c.1155del (p.Gln385_Val386insTer)
|
rs1057517520
|
|
NM_000466.3(PEX1):c.1174G>T (p.Glu392Ter)
|
|
|
NM_000466.3(PEX1):c.1239+1G>A
|
rs756876301
|
|
NM_000466.3(PEX1):c.129+1G>A
|
rs2116298327
|
|
NM_000466.3(PEX1):c.130-1G>C
|
rs1028247729
|
|
NM_000466.3(PEX1):c.130-2A>T
|
rs1585260993
|
|
NM_000466.3(PEX1):c.1321del (p.Ile441fs)
|
|
|
NM_000466.3(PEX1):c.1340T>G (p.Leu447Ter)
|
rs1585248089
|
|
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs)
|
rs1792596054
|
|
NM_000466.3(PEX1):c.1359+1G>C
|
|
|
NM_000466.3(PEX1):c.1363A>T (p.Lys455Ter)
|
|
|
NM_000466.3(PEX1):c.1374_1375delinsA (p.Ser458fs)
|
|
|
NM_000466.3(PEX1):c.1414C>T (p.Gln472Ter)
|
rs1554373801
|
|
NM_000466.3(PEX1):c.1439del (p.Leu480fs)
|
rs1554373787
|
|
NM_000466.3(PEX1):c.1468_1469del (p.Leu490fs)
|
|
|
NM_000466.3(PEX1):c.1492G>T (p.Glu498Ter)
|
|
|
NM_000466.3(PEX1):c.1501_1502del (p.Leu501fs)
|
rs786204743
|
|
NM_000466.3(PEX1):c.1522dup (p.Glu508fs)
|
rs1057517463
|
|
NM_000466.3(PEX1):c.1527del (p.Glu510fs)
|
rs1057517497
|
|
NM_000466.3(PEX1):c.1528G>T (p.Glu510Ter)
|
rs754983126
|
|
NM_000466.3(PEX1):c.1533del (p.Asp512fs)
|
rs2116205361
|
|
NM_000466.3(PEX1):c.1552_1553delinsA (p.Leu518fs)
|
|
|
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
|
|
|
NM_000466.3(PEX1):c.1587+1G>A
|
rs1057517469
|
|
NM_000466.3(PEX1):c.1587+1G>T
|
|
|
NM_000466.3(PEX1):c.1587+2T>C
|
rs1554373578
|
|
NM_000466.3(PEX1):c.1611del (p.Glu538fs)
|
|
|
NM_000466.3(PEX1):c.1670+1G>A
|
rs1057517490
|
|
NM_000466.3(PEX1):c.1670+1G>T
|
rs1057517490
|
|
NM_000466.3(PEX1):c.1696_1697del (p.Ser566fs)
|
|
|
NM_000466.3(PEX1):c.1716_1717del (p.His572fs)
|
rs786204606
|
|
NM_000466.3(PEX1):c.1742G>C (p.Arg581Pro)
|
rs370483961
|
|
NM_000466.3(PEX1):c.1743_1796del (p.Gln582_Gly599del)
|
rs1554372756
|
|
NM_000466.3(PEX1):c.175_176del (p.Ser59fs)
|
|
|
NM_000466.3(PEX1):c.1765G>T (p.Gly589Ter)
|
rs1057517489
|
|
NM_000466.3(PEX1):c.1769_1770del (p.Leu590fs)
|
|
|
NM_000466.3(PEX1):c.1793_1803+1del
|
rs2116180739
|
|
NM_000466.3(PEX1):c.1801A>T (p.Lys601Ter)
|
|
|
NM_000466.3(PEX1):c.1815dup (p.Ser606fs)
|
|
|
NM_000466.3(PEX1):c.1817C>A (p.Ser606Ter)
|
|
|
NM_000466.3(PEX1):c.1822_1823del (p.Leu608fs)
|
|
|
NM_000466.3(PEX1):c.1838_1839dup (p.Lys614fs)
|
rs1554372561
|
|
NM_000466.3(PEX1):c.1840A>T (p.Lys614Ter)
|
|
|
NM_000466.3(PEX1):c.1842del (p.Glu615fs)
|
rs267608176
|
|
NM_000466.3(PEX1):c.1876A>T (p.Arg626Ter)
|
|
|
NM_000466.3(PEX1):c.1886_1887del (p.Asp628_Cys629insTer)
|
rs1398892633
|
|
NM_000466.3(PEX1):c.1890del (p.Ala631fs)
|
rs2116175944
|
|
NM_000466.3(PEX1):c.1895del (p.Leu632fs)
|
|
|
NM_000466.3(PEX1):c.1897C>T (p.Arg633Ter)
|
rs61750409
|
|
NM_000466.3(PEX1):c.1900+1G>A
|
rs770447891
|
|
NM_000466.3(PEX1):c.1900+2T>C
|
rs1562857198
|
|
NM_000466.3(PEX1):c.1901-1G>T
|
|
|
NM_000466.3(PEX1):c.1901-2A>G
|
|
|
NM_000466.3(PEX1):c.1908del (p.Arg636fs)
|
rs1057517478
|
|
NM_000466.3(PEX1):c.1921C>T (p.Gln641Ter)
|
rs1057517464
|
|
NM_000466.3(PEX1):c.1926_1927delinsC (p.Lys642fs)
|
rs1057517529
|
|
NM_000466.3(PEX1):c.1927del (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1927dup (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.1961_1962insCAGTGTGAA (p.Met654delinsIleSerValLys)
|
|
|
NM_000466.3(PEX1):c.1964_1970dup (p.Val658fs)
|
rs1057517486
|
|
NM_000466.3(PEX1):c.1A>C (p.Met1Leu)
|
rs1057517501
|
|
NM_000466.3(PEX1):c.2034_2035del (p.His678fs)
|
rs61750412
|
|
NM_000466.3(PEX1):c.205C>T (p.Gln69Ter)
|
|
|
NM_000466.3(PEX1):c.2071+2T>C
|
rs1478905473
|
|
NM_000466.3(PEX1):c.2072-1G>A
|
|
|
NM_000466.3(PEX1):c.2072-42_2085del
|
rs1792018845
|
|
NM_000466.3(PEX1):c.2137C>T (p.Gln713Ter)
|
rs1057517468
|
|
NM_000466.3(PEX1):c.2142_2143del (p.Gln715fs)
|
|
|
NM_000466.3(PEX1):c.2162_2166del (p.Leu721fs)
|
rs1057517499
|
|
NM_000466.3(PEX1):c.2199C>A (p.Cys733Ter)
|
|
|
NM_000466.3(PEX1):c.2212_2213del (p.Gln738fs)
|
|
|
NM_000466.3(PEX1):c.2227-1G>C
|
|
|
NM_000466.3(PEX1):c.2233A>T (p.Arg745Ter)
|
|
|
NM_000466.3(PEX1):c.2280_2281insG (p.Ile761fs)
|
|
|
NM_000466.3(PEX1):c.2353_2355delinsT (p.Thr785fs)
|
|
|
NM_000466.3(PEX1):c.2391_2392del (p.Arg798fs)
|
rs61750414
|
|
NM_000466.3(PEX1):c.2417-1G>T
|
|
|
NM_000466.3(PEX1):c.2443C>T (p.Gln815Ter)
|
rs1306607552
|
|
NM_000466.3(PEX1):c.2488_2489dup (p.Asn830fs)
|
rs1554370868
|
|
NM_000466.3(PEX1):c.2489dup (p.Asn830fs)
|
rs1554370868
|
|
NM_000466.3(PEX1):c.249_250insT (p.Leu84fs)
|
rs1793076195
|
|
NM_000466.3(PEX1):c.253G>T (p.Gly85Ter)
|
|
|
NM_000466.3(PEX1):c.2617C>T (p.Gln873Ter)
|
rs1057517470
|
|
NM_000466.3(PEX1):c.2633TGT[1] (p.Leu879del)
|
rs886043984
|
|
NM_000466.3(PEX1):c.2686C>T (p.Arg896Ter)
|
rs1057517485
|
|
NM_000466.3(PEX1):c.2718+1G>A
|
|
|
NM_000466.3(PEX1):c.2719-2A>G
|
rs1554369234
|
|
NM_000466.3(PEX1):c.2723del (p.Pro908fs)
|
rs1057517503
|
|
NM_000466.3(PEX1):c.273+1G>A
|
rs1554376597
|
|
NM_000466.3(PEX1):c.273+2T>G
|
|
|
NM_000466.3(PEX1):c.2760del (p.Ala921fs)
|
rs1256376226
|
|
NM_000466.3(PEX1):c.2770dup (p.Asp924fs)
|
|
|
NM_000466.3(PEX1):c.2783+2T>C
|
rs1585224312
|
|
NM_000466.3(PEX1):c.2784-1G>C
|
|
|
NM_000466.3(PEX1):c.2798dup (p.Pro934fs)
|
rs1057517484
|
|
NM_000466.3(PEX1):c.2822_2823del (p.Glu941fs)
|
rs2116095487
|
|
NM_000466.3(PEX1):c.2849dup (p.His951fs)
|
|
|
NM_000466.3(PEX1):c.2852dup (p.His951fs)
|
rs767877383
|
|
NM_000466.3(PEX1):c.2859dup (p.Thr954fs)
|
rs1057517472
|
|
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter)
|
rs1057517481
|
|
NM_000466.3(PEX1):c.2887C>T (p.Gln963Ter)
|
|
|
NM_000466.3(PEX1):c.2916del (p.Gly973fs)
|
rs61750426
|
|
NM_000466.3(PEX1):c.2922del (p.Leu974fs)
|
rs762324548
|
|
NM_000466.3(PEX1):c.2927-2A>G
|
rs1057517531
|
|
NM_000466.3(PEX1):c.2932dup (p.Tyr978fs)
|
|
|
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)
|
rs61750428
|
|
NM_000466.3(PEX1):c.2T>G (p.Met1Arg)
|
rs766020928
|
|
NM_000466.3(PEX1):c.3003del (p.Lys1001fs)
|
|
|
NM_000466.3(PEX1):c.3031-1G>A
|
|
|
NM_000466.3(PEX1):c.3038G>A (p.Arg1013His)
|
rs1484321655
|
|
NM_000466.3(PEX1):c.3043_3044del (p.Glu1015fs)
|
|
|
NM_000466.3(PEX1):c.3077T>C (p.Leu1026Pro)
|
rs954814470
|
|
NM_000466.3(PEX1):c.3115del (p.Thr1039fs)
|
rs1562846257
|
|
NM_000466.3(PEX1):c.3207+1G>C
|
rs267608181
|
|
NM_000466.3(PEX1):c.3207+2C>A
|
rs1554368097
|
|
NM_000466.3(PEX1):c.3237_3238del (p.Leu1081fs)
|
rs1057517509
|
|
NM_000466.3(PEX1):c.3258_3261del (p.Phe1086fs)
|
|
|
NM_000466.3(PEX1):c.3269_3270insTAAAGGA (p.Ser1091fs)
|
|
|
NM_000466.3(PEX1):c.3298G>T (p.Gly1100Ter)
|
|
|
NM_000466.3(PEX1):c.3303_3304dup (p.Cys1102fs)
|
rs886043558
|
|
NM_000466.3(PEX1):c.3308del (p.Gly1103fs)
|
|
|
NM_000466.3(PEX1):c.3311T>G (p.Leu1104Ter)
|
|
|
NM_000466.3(PEX1):c.3329_3332del (p.Val1109_Ser1110insTer)
|
rs1585214453
|
|
NM_000466.3(PEX1):c.3332_3354del (p.Ser1110_Leu1111insTer)
|
rs1554367358
|
|
NM_000466.3(PEX1):c.3422del (p.Gly1141fs)
|
|
|
NM_000466.3(PEX1):c.3438+1G>A
|
rs1554367284
|
|
NM_000466.3(PEX1):c.3438+1G>T
|
rs1554367284
|
|
NM_000466.3(PEX1):c.3439-2A>G
|
|
|
NM_000466.3(PEX1):c.3445C>T (p.Gln1149Ter)
|
|
|
NM_000466.3(PEX1):c.3455_3456del (p.Ser1152fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.3455_3456dup (p.Ala1153fs)
|
rs759183382
|
|
NM_000466.3(PEX1):c.348G>A (p.Trp116Ter)
|
rs1057517487
|
|
NM_000466.3(PEX1):c.3547G>T (p.Glu1183Ter)
|
rs1057517480
|
|
NM_000466.3(PEX1):c.357+1G>A
|
rs866144313
|
|
NM_000466.3(PEX1):c.357+1G>C
|
rs866144313
|
|
NM_000466.3(PEX1):c.357+1G>T
|
rs866144313
|
|
NM_000466.3(PEX1):c.357+202_1170del
|
|
|
NM_000466.3(PEX1):c.3573del (p.Glu1191fs)
|
rs1585211048
|
|
NM_000466.3(PEX1):c.3574C>T (p.Gln1192Ter)
|
rs1057517467
|
|
NM_000466.3(PEX1):c.358-1G>T
|
rs1057517479
|
|
NM_000466.3(PEX1):c.358-2A>C
|
rs1057517500
|
|
NM_000466.3(PEX1):c.358-2A>G
|
rs1057517500
|
|
NM_000466.3(PEX1):c.3580_3581del (p.Asp1194fs)
|
rs1160117945
|
|
NM_000466.3(PEX1):c.3622del (p.Arg1208fs)
|
rs1791174009
|
|
NM_000466.3(PEX1):c.3626del (p.Ser1209fs)
|
rs1554366766
|
|
NM_000466.3(PEX1):c.3637-1G>A
|
|
|
NM_000466.3(PEX1):c.3637-3_3637-1del
|
rs2116039871
|
|
NM_000466.3(PEX1):c.3693_3696del (p.Gln1231fs)
|
rs769836601
|
|
NM_000466.3(PEX1):c.3710C>A (p.Ala1237Glu)
|
rs1473858573
|
|
NM_000466.3(PEX1):c.3G>A (p.Met1Ile)
|
rs786204704
|
|
NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)
|
rs201415996
|
|
NM_000466.3(PEX1):c.431dup (p.Val145fs)
|
rs1057517506
|
|
NM_000466.3(PEX1):c.472+1G>A
|
rs762852144
|
|
NM_000466.3(PEX1):c.473-1G>A
|
rs1554375661
|
|
NM_000466.3(PEX1):c.473-1G>C
|
rs1554375661
|
|
NM_000466.3(PEX1):c.484C>A (p.Pro162Thr)
|
|
|
NM_000466.3(PEX1):c.496del (p.Tyr166fs)
|
|
|
NM_000466.3(PEX1):c.510_511insGTTATAAAATTTAT (p.Thr171fs)
|
|
|
NM_000466.3(PEX1):c.512_513delinsTTTAAACAAGCACTTCAAA (p.Thr171delinsIleTer)
|
|
|
NM_000466.3(PEX1):c.532_533del (p.Gln178fs)
|
|
|
NM_000466.3(PEX1):c.569C>A (p.Ser190Ter)
|
rs1554375599
|
|
NM_000466.3(PEX1):c.56_80del (p.Val19fs)
|
rs1793398751
|
|
NM_000466.3(PEX1):c.573del (p.Ala192fs)
|
rs1585255490
|
|
NM_000466.3(PEX1):c.629_630delinsA (p.Met210fs)
|
|
|
NM_000466.3(PEX1):c.643_647del (p.Thr215fs)
|
rs786204544
|
|
NM_000466.3(PEX1):c.659C>A (p.Ser220Ter)
|
|
|
NM_000466.3(PEX1):c.66dup (p.Asn23fs)
|
|
|
NM_000466.3(PEX1):c.716C>G (p.Ser239Ter)
|
|
|
NM_000466.3(PEX1):c.734del (p.Leu245fs)
|
rs1057517522
|
|
NM_000466.3(PEX1):c.757_758delinsA (p.Phe253fs)
|
|
|
NM_000466.3(PEX1):c.760dup (p.Ser254fs)
|
rs1554375511
|
|
NM_000466.3(PEX1):c.805_806del (p.Glu269fs)
|
|
|
NM_000466.3(PEX1):c.892_895dup (p.Asn299delinsIleTer)
|
rs1057517505
|
|
NM_000466.3(PEX1):c.911_912del (p.Ser304fs)
|
rs786204638
|
|
NM_000481.4(AMT):c.1034-1dup
|
rs1238918084
|
|
NM_000481.4(AMT):c.1056del (p.Ser353fs)
|
rs2049022161
|
|
NM_000481.4(AMT):c.1058C>A (p.Ser353Tyr)
|
rs768293167
|
|
NM_000481.4(AMT):c.1063dup (p.Ser355fs)
|
|
|
NM_000481.4(AMT):c.1066_1067del (p.Leu356fs)
|
|
|
NM_000481.4(AMT):c.1068GAA[2] (p.Lys358del)
|
rs768940499
|
|
NM_000481.4(AMT):c.1087G>A (p.Gly363Ser)
|
|
|
NM_000481.4(AMT):c.1087G>C (p.Gly363Arg)
|
rs1167886830
|
|
NM_000481.4(AMT):c.116_117del (p.Leu38_Tyr39insTer)
|
|
|
NM_000481.4(AMT):c.139G>T (p.Gly47Trp)
|
rs121964982
|
|
NM_000481.4(AMT):c.144_148del (p.Lys48fs)
|
rs1553638822
|
|
NM_000481.4(AMT):c.148del (p.Val50fs)
|
rs386833678
|
|
NM_000481.4(AMT):c.15_18del (p.Ser6fs)
|
rs1553638904
|
|
NM_000481.4(AMT):c.165del (p.Gly54_Trp55insTer)
|
rs1483890972
|
|
NM_000481.4(AMT):c.16del (p.Ser6fs)
|
rs1553638907
|
|
NM_000481.4(AMT):c.217C>G (p.Arg73Gly)
|
|
|
NM_000481.4(AMT):c.230C>A (p.Ser77Ter)
|
rs386833680
|
|
NM_000481.4(AMT):c.248A>C (p.His83Pro)
|
|
|
NM_000481.4(AMT):c.258+1G>A
|
|
|
NM_000481.4(AMT):c.259-1G>C
|
rs386833681
|
|
NM_000481.4(AMT):c.259-2A>T
|
|
|
NM_000481.4(AMT):c.281G>A (p.Arg94Gln)
|
|
|
NM_000481.4(AMT):c.293T>G (p.Met98Arg)
|
rs2107935989
|
|
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)
|
rs753221440
|
|
NM_000481.4(AMT):c.339+2T>C
|
|
|
NM_000481.4(AMT):c.348_349del (p.Ser117fs)
|
rs1553638649
|
|
NM_000481.4(AMT):c.381_383delinsGG (p.Asp128fs)
|
rs2107933735
|
|
NM_000481.4(AMT):c.383del (p.Asp128fs)
|
rs2107933731
|
|
NM_000481.4(AMT):c.3G>A (p.Met1Ile)
|
rs2107938475
|
|
NM_000481.4(AMT):c.419dup (p.Tyr141fs)
|
|
|
NM_000481.4(AMT):c.434A>T (p.Asn145Ile)
|
rs386833682
|
|
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del)
|
rs386833683
|
|
NM_000481.4(AMT):c.471+2T>C
|
rs386833684
|
|
NM_000481.4(AMT):c.471+2_471+7del
|
|
|
NM_000481.4(AMT):c.472-2A>T
|
rs2107932966
|
|
NM_000481.4(AMT):c.535del (p.Leu179fs)
|
rs386833685
|
|
NM_000481.4(AMT):c.574C>T (p.Gln192Ter)
|
rs121964986
|
|
NM_000481.4(AMT):c.59del (p.Pro20fs)
|
rs386833686
|
|
NM_000481.4(AMT):c.61del (p.Ala21fs)
|
rs386833687
|
|
NM_000481.4(AMT):c.63del (p.Leu22fs)
|
rs386833688
|
|
NM_000481.4(AMT):c.657dup (p.Val220fs)
|
rs2049058298
|
|
NM_000481.4(AMT):c.664C>A (p.Arg222Ser)
|
rs781466698
|
|
NM_000481.4(AMT):c.665G>T (p.Arg222Leu)
|
rs562695274
|
|
NM_000481.4(AMT):c.674A>G (p.Tyr225Cys)
|
rs386833689
|
|
NM_000481.4(AMT):c.685G>C (p.Asp229His)
|
rs1553638463
|
|
NM_000481.4(AMT):c.695_696+21del
|
rs1553638457
|
|
NM_000481.4(AMT):c.696+1G>A
|
rs1553638460
|
|
NM_000481.4(AMT):c.696+2T>A
|
rs541594122
|
|
NM_000481.4(AMT):c.696G>A (p.Glu232=)
|
rs1352631535
|
|
NM_000481.4(AMT):c.697-1G>A
|
|
|
NM_000481.4(AMT):c.697-2A>C
|
|
|
NM_000481.4(AMT):c.797T>C (p.Leu266Pro)
|
rs2049051428
|
|
NM_000481.4(AMT):c.826G>A (p.Asp276Asn)
|
|
|
NM_000481.4(AMT):c.845C>T (p.Thr282Ile)
|
|
|
NM_000481.4(AMT):c.849dup (p.Val284fs)
|
rs1553638408
|
|
NM_000481.4(AMT):c.875del (p.Leu292fs)
|
rs1553638405
|
|
NM_000481.4(AMT):c.877+5G>A
|
|
|
NM_000481.4(AMT):c.886C>G (p.Arg296Gly)
|
|
|
NM_000481.4(AMT):c.886C>T (p.Arg296Cys)
|
rs1056820947
|
|
NM_000481.4(AMT):c.887G>T (p.Arg296Leu)
|
rs386833690
|
|
NM_000481.4(AMT):c.90+1G>T
|
|
|
NM_000481.4(AMT):c.91-2A>G
|
|
|
NM_000481.4(AMT):c.954_959delinsAAGGCA (p.Arg320His)
|
|
|
NM_000481.4(AMT):c.964_976dup (p.Glu326delinsGlyValAspValTer)
|
|
|
NM_000481.4(AMT):c.970_972del (p.Met324del)
|
rs386833691
|
|
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)
|
rs386833692
|
|
NM_000481.4(AMT):c.982del (p.Ala328fs)
|
rs1553638266
|
|
NM_000481.4(AMT):c.982dup (p.Ala328fs)
|
rs1553638266
|
|
NM_000481.4(AMT):c.987del (p.Met330fs)
|
rs1278265933
|
|
NM_000481.4(AMT):c.991C>T (p.Arg331Trp)
|
|
|
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)
|
rs1368099067
|
|
NM_000484.4(APP):c.2061A>C (p.Lys687Asn)
|
|
|
NM_000484.4(APP):c.2113C>G (p.Leu705Val)
|
rs63750921
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)
|
|
|
NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter)
|
rs891068548
|
|
NM_000489.6(ATRX):c.4825C>T (p.His1609Tyr)
|
|
|
NM_000489.6(ATRX):c.485-1G>A
|
rs2148657465
|
|
NM_000489.6(ATRX):c.485-2A>T
|
|
|
NM_000489.6(ATRX):c.4957-4A>G
|
rs1602979818
|
|
NM_000489.6(ATRX):c.4981C>T (p.Arg1661Cys)
|
|
|
NM_000489.6(ATRX):c.5048A>G (p.Tyr1683Cys)
|
rs1602979414
|
|
NM_000489.6(ATRX):c.5080A>G (p.Asn1694Asp)
|
rs2068193669
|
|
NM_000489.6(ATRX):c.5281A>G (p.Met1761Val)
|
rs2148260943
|
|
NM_000489.6(ATRX):c.5368G>A (p.Ala1790Thr)
|
|
|
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)
|
rs398123425
|
|
NM_000489.6(ATRX):c.5405A>C (p.Lys1802Thr)
|
rs1602876401
|
|
NM_000489.6(ATRX):c.5449-7A>G
|
rs2067371776
|
|
NM_000489.6(ATRX):c.5540A>G (p.Tyr1847Cys)
|
rs1057521987
|
|
NM_000489.6(ATRX):c.565C>T (p.His189Tyr)
|
rs2148656473
|
|
NM_000489.6(ATRX):c.568C>G (p.Pro190Ala)
|
rs122445103
|
|
NM_000489.6(ATRX):c.569C>T (p.Pro190Leu)
|
rs1057518708
|
|
NM_000489.6(ATRX):c.6104A>G (p.Asp2035Gly)
|
rs122445096
|
|
NM_000489.6(ATRX):c.6127T>C (p.Ser2043Pro)
|
|
|
NM_000489.6(ATRX):c.6254G>A (p.Arg2085His)
|
rs1057517948
|
|
NM_000489.6(ATRX):c.6254G>T (p.Arg2085Leu)
|
rs1057517948
|
|
NM_000489.6(ATRX):c.6532C>T (p.Arg2178Trp)
|
rs1057517707
|
|
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr)
|
rs122445111
|
|
NM_000489.6(ATRX):c.671C>T (p.Ala224Val)
|
|
|
NM_000489.6(ATRX):c.6743T>C (p.Ile2248Thr)
|
rs2147761759
|
|
NM_000489.6(ATRX):c.6793G>A (p.Glu2265Lys)
|
|
|
NM_000489.6(ATRX):c.7192C>T (p.Gln2398Ter)
|
rs1569515457
|
|
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp)
|
rs1057524153
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
NM_000489.6(ATRX):c.758T>C (p.Leu253Ser)
|
|
|
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter)
|
rs2073481839
|
|
NM_000489.6(ATRX):c.839G>A (p.Cys280Tyr)
|
rs2071439399
|
|
NM_000490.5(AVP):c.131G>T (p.Cys44Phe)
|
rs1057516192
|
|
NM_000490.5(AVP):c.229GAG[1] (p.Glu78del)
|
rs2066119604
|
|
NM_000515.5(GH1):c.131A>C (p.His44Pro)
|
rs754126557
|
|
NM_000515.5(GH1):c.254C>T (p.Pro85Leu)
|
rs1567803095
|
|
NM_000515.5(GH1):c.334T>C (p.Trp112Arg)
|
|
|
NM_000520.4(HEXA):c.-2564_253+5128delinsG
|
|
|
NM_000520.6(HEXA):c.1024A>T (p.Lys342Ter)
|
rs1322698222
|
|
NM_000520.6(HEXA):c.1030T>A (p.Phe344Ile)
|
|
|
NM_000520.6(HEXA):c.1031T>C (p.Phe344Ser)
|
|
|
NM_000520.6(HEXA):c.1039_1056del (p.Asp347_Glu352del)
|
|
|
NM_000520.6(HEXA):c.103C>T (p.Gln35Ter)
|
rs2089059318
|
|
NM_000520.6(HEXA):c.103del (p.Gln35fs)
|
|
|
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs)
|
rs1057516755
|
|
NM_000520.6(HEXA):c.1073+1G>T
|
rs76173977
|
|
NM_000520.6(HEXA):c.1074-7_1074-3del
|
rs759219683
|
|
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter)
|
rs979690054
|
|
NM_000520.6(HEXA):c.1098T>G (p.Tyr366Ter)
|
rs979690054
|
|
NM_000520.6(HEXA):c.1114del (p.Val372fs)
|
rs2140321846
|
|
NM_000520.6(HEXA):c.1118G>A (p.Trp373Ter)
|
rs2088635583
|
|
NM_000520.6(HEXA):c.1119G>A (p.Trp373Ter)
|
rs2088635505
|
|
NM_000520.6(HEXA):c.1120C>T (p.Gln374Ter)
|
rs1415609256
|
|
NM_000520.6(HEXA):c.1123G>T (p.Glu375Ter)
|
rs2088635332
|
|
NM_000520.6(HEXA):c.1123del (p.Glu375fs)
|
rs766138785
|
|
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer)
|
rs1555472553
|
|
NM_000520.6(HEXA):c.1150C>T (p.Gln384Ter)
|
rs1057516617
|
|
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter)
|
rs988192535
|
|
NM_000520.6(HEXA):c.1169_1171delinsT (p.Gln390fs)
|
rs1555472440
|
|
NM_000520.6(HEXA):c.1171G>A (p.Val391Met)
|
rs2140320821
|
|
NM_000520.6(HEXA):c.1183del (p.Asp395fs)
|
rs770303210
|
|
NM_000520.6(HEXA):c.1214_1215delinsG (p.Glu405fs)
|
rs1555472432
|
|
NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis)
|
rs1177678117
|
|
NM_000520.6(HEXA):c.1259G>A (p.Trp420Ter)
|
rs1057519465
|
|
NM_000520.6(HEXA):c.1260G>A (p.Trp420Ter)
|
|
|
NM_000520.6(HEXA):c.1294A>T (p.Lys432Ter)
|
|
|
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs)
|
rs777042785
|
|
NM_000520.6(HEXA):c.1342C>T (p.Gln448Ter)
|
|
|
NM_000520.6(HEXA):c.1349del (p.Ala450fs)
|
rs1057519466
|
|
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser)
|
rs121907978
|
|
NM_000520.6(HEXA):c.1360G>C (p.Gly454Arg)
|
rs121907978
|
|
NM_000520.6(HEXA):c.1363G>A (p.Gly455Arg)
|
|
|
NM_000520.6(HEXA):c.139_140delinsT (p.Gln47fs)
|
rs1555475498
|
|
NM_000520.6(HEXA):c.1421+1G>T
|
rs147324677
|
|
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter)
|
rs762374961
|
|
NM_000520.6(HEXA):c.1422-1G>T
|
rs1555472296
|
|
NM_000520.6(HEXA):c.1499del (p.Leu500fs)
|
rs1567295184
|
|
NM_000520.6(HEXA):c.1502C>G (p.Ser501Ter)
|
rs1555472270
|
|
NM_000520.6(HEXA):c.1525_1526+27del
|
rs2140319516
|
|
NM_000520.6(HEXA):c.1526+1G>T
|
rs1309204908
|
|
NM_000520.6(HEXA):c.1526+2T>C
|
rs1555472262
|
|
NM_000520.6(HEXA):c.1549dup (p.Leu517fs)
|
rs1555472161
|
|
NM_000520.6(HEXA):c.183_193del (p.Asp62fs)
|
rs1057516640
|
|
NM_000520.6(HEXA):c.196C>T (p.Gln66Ter)
|
rs1057516957
|
|
NM_000520.6(HEXA):c.1A>C (p.Met1Leu)
|
rs121907965
|
|
NM_000520.6(HEXA):c.207_208del (p.Asp70fs)
|
|
|
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter)
|
rs751546658
|
|
NM_000520.6(HEXA):c.237_253+7del
|
rs770628999
|
|
NM_000520.6(HEXA):c.24_25del (p.Ser9fs)
|
rs1057517348
|
|
NM_000520.6(HEXA):c.254-1G>C
|
|
|
NM_000520.6(HEXA):c.254-2A>G
|
rs2088785868
|
|
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter)
|
rs769370282
|
|
NM_000520.6(HEXA):c.284T>A (p.Leu95Ter)
|
rs2088784856
|
|
NM_000520.6(HEXA):c.288del (p.Val97fs)
|
|
|
NM_000520.6(HEXA):c.314del (p.Asn105fs)
|
|
|
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)
|
rs773446161
|
|
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys)
|
rs748190164
|
|
NM_000520.6(HEXA):c.346+1G>T
|
rs797044432
|
|
NM_000520.6(HEXA):c.347A>G (p.Tyr116Cys)
|
rs1282031681
|
|
NM_000520.6(HEXA):c.370C>T (p.Gln124Ter)
|
rs2088766427
|
|
NM_000520.6(HEXA):c.379C>T (p.Leu127Phe)
|
|
|
NM_000520.6(HEXA):c.400_401del (p.Gly134fs)
|
|
|
NM_000520.6(HEXA):c.412+1G>T
|
rs2140328162
|
|
NM_000520.6(HEXA):c.413-1G>A
|
|
|
NM_000520.6(HEXA):c.413-2A>G
|
rs2088733862
|
|
NM_000520.6(HEXA):c.421_422insAGGAGCC (p.Thr141fs)
|
|
|
NM_000520.6(HEXA):c.451G>T (p.Glu151Ter)
|
rs2088732981
|
|
NM_000520.6(HEXA):c.459+1G>A
|
rs2140326761
|
|
NM_000520.6(HEXA):c.459+2dup
|
rs1555473138
|
|
NM_000520.6(HEXA):c.460-1G>A
|
rs764343937
|
|
NM_000520.6(HEXA):c.465del (p.Phe155fs)
|
rs1057516850
|
|
NM_000520.6(HEXA):c.538T>C (p.Tyr180His)
|
rs28941771
|
|
NM_000520.6(HEXA):c.551_552del (p.Leu183_Ser184insTer)
|
rs1555473070
|
|
NM_000520.6(HEXA):c.568_569del (p.Leu190fs)
|
rs2088721832
|
|
NM_000520.6(HEXA):c.570+1G>A
|
rs786204754
|
|
NM_000520.6(HEXA):c.604C>T (p.His202Tyr)
|
rs2140324712
|
|
NM_000520.6(HEXA):c.609G>A (p.Trp203Ter)
|
|
|
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs)
|
rs1057517296
|
|
NM_000520.6(HEXA):c.611A>G (p.His204Arg)
|
rs121907976
|
|
NM_000520.6(HEXA):c.616G>C (p.Val206Leu)
|
rs543071358
|
|
NM_000520.6(HEXA):c.616del (p.Leu205_Val206insTer)
|
rs2088690482
|
|
NM_000520.6(HEXA):c.617T>A (p.Val206Glu)
|
|
|
NM_000520.6(HEXA):c.637T>C (p.Tyr213His)
|
rs1057519461
|
|
NM_000520.6(HEXA):c.638A>G (p.Tyr213Cys)
|
|
|
NM_000520.6(HEXA):c.672+1G>A
|
rs387906311
|
|
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn)
|
rs780134593
|
|
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter)
|
rs150675340
|
|
NM_000520.6(HEXA):c.718A>T (p.Lys240Ter)
|
|
|
NM_000520.6(HEXA):c.735C>A (p.Tyr245Ter)
|
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp)
|
rs121907959
|
|
NM_000520.6(HEXA):c.766G>T (p.Glu256Ter)
|
|
|
NM_000520.6(HEXA):c.778C>T (p.Pro260Ser)
|
|
|
NM_000520.6(HEXA):c.786C>G (p.His262Gln)
|
|
|
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile)
|
rs1057519462
|
|
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)
|
rs121907954
|
|
NM_000520.6(HEXA):c.806-1G>C
|
rs1057516908
|
|
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp)
|
rs2088664194
|
|
NM_000520.6(HEXA):c.814G>A (p.Gly272Arg)
|
|
|
NM_000520.6(HEXA):c.814G>T (p.Gly272Ter)
|
|
|
NM_000520.6(HEXA):c.822_823del (p.Thr275fs)
|
|
|
NM_000520.6(HEXA):c.844G>T (p.Glu282Ter)
|
|
|
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)
|
rs121907977
|
|
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)
|
rs121907960
|
|
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter)
|
rs556872918
|
|
NM_000520.6(HEXA):c.947dup (p.Tyr316Ter)
|
rs786204515
|
|
NM_000520.6(HEXA):c.958G>T (p.Gly320Ter)
|
rs2088660599
|
|
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu)
|
rs1316178162
|
|
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr)
|
rs772180415
|
|
NM_000520.6(HEXA):c.965A>T (p.Asp322Val)
|
|
|
NM_000520.6(HEXA):c.977del (p.Phe326fs)
|
rs756040251
|
|
NM_000520.6(HEXA):c.986+1G>A
|
rs2140322856
|
|
NM_000520.6(HEXA):c.986+1G>C
|
rs2140322856
|
|
NM_000520.6(HEXA):c.987G>A (p.Trp329Ter)
|
rs121907967
|
|
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)
|
|
|
NM_000520.6:c.572_1146del
|
|
|
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)
|
rs776476415
|
|
NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter)
|
rs1749651571
|
|
NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter)
|
rs1749652247
|
|
NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter)
|
rs1354786875
|
|
NM_000521.4(HEXB):c.1082+2T>C
|
rs989299922
|
|
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter)
|
rs1361998528
|
|
NM_000521.4(HEXB):c.1138_1140delinsA (p.Phe380fs)
|
|
|
NM_000521.4(HEXB):c.1169+1G>A
|
|
|
NM_000521.4(HEXB):c.1169+1G>C
|
rs2112177192
|
|
NM_000521.4(HEXB):c.1169+3_1169+10del
|
rs398123444
|
|
NM_000521.4(HEXB):c.118del (p.Ala40fs)
|
rs1554034447
|
|
NM_000521.4(HEXB):c.1219G>T (p.Glu407Ter)
|
|
|
NM_000521.4(HEXB):c.1240A>T (p.Lys414Ter)
|
|
|
NM_000521.4(HEXB):c.1242+3G>T
|
rs778226392
|
|
NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter)
|
rs1749739842
|
|
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)
|
rs775920504
|
|
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs)
|
rs779328596
|
|
NM_000521.4(HEXB):c.133del (p.Ala45fs)
|
rs1554034449
|
|
NM_000521.4(HEXB):c.1345del (p.Trp449fs)
|
rs1324338803
|
|
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter)
|
rs1554036943
|
|
NM_000521.4(HEXB):c.1418-12_1418del
|
rs1554037076
|
|
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
|
|
|
NM_000521.4(HEXB):c.1509-26G>A
|
rs201580118
|
|
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro)
|
rs121907983
|
|
NM_000521.4(HEXB):c.1520del (p.Ser507fs)
|
rs1554037120
|
|
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs)
|
rs794727091
|
|
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs)
|
rs1554037129
|
|
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer)
|
rs1554037137
|
|
NM_000521.4(HEXB):c.1611_1613+2del
|
rs1554037170
|
|
NM_000521.4(HEXB):c.1613+15_1613+18dup
|
rs779273534
|
|
NM_000521.4(HEXB):c.1614-7_1614-1dup
|
rs2112188865
|
|
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
|
|
|
NM_000521.4(HEXB):c.1641_1654del (p.Tyr547_Asn552delinsTer)
|
rs2112189087
|
|
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs)
|
rs1749847524
|
|
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)
|
rs1114167287
|
|
NM_000521.4(HEXB):c.277del (p.Leu93fs)
|
|
|
NM_000521.4(HEXB):c.295_296delinsT (p.Arg99fs)
|
|
|
NM_000521.4(HEXB):c.295_297delinsT (p.Arg99fs)
|
|
|
NM_000521.4(HEXB):c.298del (p.Arg100fs)
|
rs886039499
|
|
NM_000521.4(HEXB):c.299+1G>A
|
rs1554034505
|
|
NM_000521.4(HEXB):c.300-1G>A
|
rs967720287
|
|
NM_000521.4(HEXB):c.300-1G>C
|
rs967720287
|
|
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter)
|
rs1748943719
|
|
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
|
|
|
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg)
|
|
|
NM_000521.4(HEXB):c.447T>A (p.Tyr149Ter)
|
rs1319123888
|
|
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter)
|
rs2112135868
|
|
NM_000521.4(HEXB):c.512-1G>T
|
rs1554035308
|
|
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter)
|
rs1749120310
|
|
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter)
|
rs573447174
|
|
NM_000521.4(HEXB):c.558+1G>C
|
rs1198764997
|
|
NM_000521.4(HEXB):c.559-1G>A
|
|
|
NM_000521.4(HEXB):c.559-1G>T
|
rs1311903314
|
|
NM_000521.4(HEXB):c.56del (p.Leu19fs)
|
rs1554034423
|
|
NM_000521.4(HEXB):c.617T>A (p.Leu206Ter)
|
|
|
NM_000521.4(HEXB):c.626del (p.Thr209fs)
|
|
|
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro)
|
rs1749130818
|
|
NM_000521.4(HEXB):c.703C>T (p.His235Tyr)
|
rs1554035822
|
|
NM_000521.4(HEXB):c.705C>G (p.His235Gln)
|
rs2112156345
|
|
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
|
|
|
NM_000521.4(HEXB):c.739C>T (p.Gln247Ter)
|
rs1749359626
|
|
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser)
|
rs771103635
|
|
NM_000521.4(HEXB):c.772-2A>C
|
|
|
NM_000521.4(HEXB):c.785T>A (p.Leu262Ter)
|
|
|
NM_000521.4(HEXB):c.806del (p.Asn269fs)
|
rs2112171738
|
|
NM_000521.4(HEXB):c.825del (p.Ile275fs)
|
rs1554036523
|
|
NM_000521.4(HEXB):c.860del (p.Pro287fs)
|
|
|
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile)
|
rs2112171931
|
|
NM_000521.4(HEXB):c.902-1G>T
|
rs1554036638
|
|
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)
|
|
|
NM_000521.4(HEXB):c.971dup (p.Thr325fs)
|
|
|
NM_000521.4:c.1_669del
|
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000530.8(MPZ):c.486del (p.Ile162fs)
|
rs1571818248
|
|
NM_000533.5(PLP1):c.658T>G (p.Cys220Gly)
|
rs1556270312
|
|
NM_000546.6(TP53):c.1140del (p.His380fs)
|
rs1555524108
|
|
NM_000546.6(TP53):c.373A>C (p.Thr125Pro)
|
rs1057520003
|
|
NM_000546.6(TP53):c.374C>A (p.Thr125Lys)
|
rs786201057
|
|
NM_000546.6(TP53):c.374C>G (p.Thr125Arg)
|
rs786201057
|
|
NM_000546.6(TP53):c.394A>C (p.Lys132Gln)
|
rs747342068
|
|
NM_000546.6(TP53):c.394A>G (p.Lys132Glu)
|
rs747342068
|
|
NM_000546.6(TP53):c.395A>C (p.Lys132Thr)
|
rs1057519996
|
|
NM_000546.6(TP53):c.395A>T (p.Lys132Met)
|
rs1057519996
|
|
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)
|
rs866775781
|
|
NM_000546.6(TP53):c.403T>A (p.Cys135Ser)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>C (p.Cys135Arg)
|
rs1057519975
|
|
NM_000546.6(TP53):c.403T>G (p.Cys135Gly)
|
rs1057519975
|
|
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr)
|
rs587781991
|
|
NM_000546.6(TP53):c.404G>T (p.Cys135Phe)
|
rs587781991
|
|
NM_000546.6(TP53):c.405C>G (p.Cys135Trp)
|
rs1057519976
|
|
NM_000546.6(TP53):c.421T>A (p.Cys141Ser)
|
rs1057519978
|
|
NM_000546.6(TP53):c.421T>C (p.Cys141Arg)
|
rs1057519978
|
|
NM_000546.6(TP53):c.421T>G (p.Cys141Gly)
|
rs1057519978
|
|
NM_000546.6(TP53):c.422G>A (p.Cys141Tyr)
|
rs587781288
|
|
NM_000546.6(TP53):c.422G>T (p.Cys141Phe)
|
rs587781288
|
|
NM_000546.6(TP53):c.423C>G (p.Cys141Trp)
|
rs1057519977
|
|
NM_000546.6(TP53):c.451C>A (p.Pro151Thr)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>G (p.Pro151Ala)
|
rs28934874
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.452C>A (p.Pro151His)
|
rs1057520000
|
|
NM_000546.6(TP53):c.452C>G (p.Pro151Arg)
|
rs1057520000
|
|
NM_000546.6(TP53):c.487T>A (p.Tyr163Asn)
|
rs786203436
|
|
NM_000546.6(TP53):c.487T>C (p.Tyr163His)
|
rs786203436
|
|
NM_000546.6(TP53):c.487T>G (p.Tyr163Asp)
|
rs786203436
|
|
NM_000546.6(TP53):c.517G>A (p.Val173Met)
|
rs876660754
|
|
NM_000546.6(TP53):c.517G>T (p.Val173Leu)
|
rs876660754
|
|
NM_000546.6(TP53):c.518T>A (p.Val173Glu)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>C (p.Val173Ala)
|
rs1057519747
|
|
NM_000546.6(TP53):c.518T>G (p.Val173Gly)
|
rs1057519747
|
|
NM_000546.6(TP53):c.523C>G (p.Arg175Gly)
|
rs138729528
|
|
NM_000546.6(TP53):c.526T>A (p.Cys176Ser)
|
rs967461896
|
|
NM_000546.6(TP53):c.526T>C (p.Cys176Arg)
|
rs967461896
|
|
NM_000546.6(TP53):c.526T>G (p.Cys176Gly)
|
rs967461896
|
|
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr)
|
rs786202962
|
|
NM_000546.6(TP53):c.527G>T (p.Cys176Phe)
|
rs786202962
|
|
NM_000546.6(TP53):c.528C>G (p.Cys176Trp)
|
rs1057519980
|
|
NM_000546.6(TP53):c.535C>A (p.His179Asn)
|
rs587780070
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
NM_000546.6(TP53):c.536A>C (p.His179Pro)
|
rs1057519991
|
|
NM_000546.6(TP53):c.536A>T (p.His179Leu)
|
rs1057519991
|
|
NM_000546.6(TP53):c.537T>G (p.His179Gln)
|
rs876660821
|
|
NM_000546.6(TP53):c.577C>A (p.His193Asn)
|
rs876658468
|
|
NM_000546.6(TP53):c.577C>G (p.His193Asp)
|
rs876658468
|
|
NM_000546.6(TP53):c.577C>T (p.His193Tyr)
|
rs876658468
|
|
NM_000546.6(TP53):c.578A>G (p.His193Arg)
|
rs786201838
|
|
NM_000546.6(TP53):c.578A>T (p.His193Leu)
|
rs786201838
|
|
NM_000546.6(TP53):c.580C>T (p.Leu194Phe)
|
rs587780071
|
|
NM_000546.6(TP53):c.581T>A (p.Leu194His)
|
rs1057519998
|
|
NM_000546.6(TP53):c.581T>C (p.Leu194Pro)
|
rs1057519998
|
|
NM_000546.6(TP53):c.581T>G (p.Leu194Arg)
|
rs1057519998
|
|
NM_000546.6(TP53):c.583A>T (p.Ile195Phe)
|
rs942158624
|
|
NM_000546.6(TP53):c.584T>A (p.Ile195Asn)
|
rs760043106
|
|
NM_000546.6(TP53):c.584T>C (p.Ile195Thr)
|
rs760043106
|
|
NM_000546.6(TP53):c.584T>G (p.Ile195Ser)
|
rs760043106
|
|
NM_000546.6(TP53):c.585C>G (p.Ile195Met)
|
rs1057519994
|
|
NM_000546.6(TP53):c.587G>C (p.Arg196Pro)
|
rs483352697
|
|
NM_000546.6(TP53):c.613T>A (p.Tyr205Asn)
|
rs1057520008
|
|
NM_000546.6(TP53):c.613T>C (p.Tyr205His)
|
rs1057520008
|
|
NM_000546.6(TP53):c.613T>G (p.Tyr205Asp)
|
rs1057520008
|
|
NM_000546.6(TP53):c.614A>C (p.Tyr205Ser)
|
rs1057520007
|
|
NM_000546.6(TP53):c.614A>G (p.Tyr205Cys)
|
rs1057520007
|
|
NM_000546.6(TP53):c.614A>T (p.Tyr205Phe)
|
rs1057520007
|
|
NM_000546.6(TP53):c.637C>G (p.Arg213Gly)
|
rs397516436
|
|
NM_000546.6(TP53):c.638G>A (p.Arg213Gln)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>C (p.Arg213Pro)
|
rs587778720
|
|
NM_000546.6(TP53):c.638G>T (p.Arg213Leu)
|
rs587778720
|
|
NM_000546.6(TP53):c.646G>A (p.Val216Met)
|
rs730882025
|
|
NM_000546.6(TP53):c.646G>T (p.Val216Leu)
|
rs730882025
|
|
NM_000546.6(TP53):c.647T>A (p.Val216Glu)
|
rs1057520004
|
|
NM_000546.6(TP53):c.647T>G (p.Val216Gly)
|
rs1057520004
|
|
NM_000546.6(TP53):c.658T>A (p.Tyr220Asn)
|
rs530941076
|
|
NM_000546.6(TP53):c.658T>C (p.Tyr220His)
|
rs530941076
|
|
NM_000546.6(TP53):c.658T>G (p.Tyr220Asp)
|
rs530941076
|
|
NM_000546.6(TP53):c.659A>C (p.Tyr220Ser)
|
rs121912666
|
|
NM_000546.6(TP53):c.706T>A (p.Tyr236Asn)
|
rs587782289
|
|
NM_000546.6(TP53):c.706T>G (p.Tyr236Asp)
|
rs587782289
|
|
NM_000546.6(TP53):c.707A>G (p.Tyr236Cys)
|
rs730882026
|
|
NM_000546.6(TP53):c.709A>G (p.Met237Val)
|
rs730882004
|
|
NM_000546.6(TP53):c.710T>A (p.Met237Lys)
|
rs765848205
|
|
NM_000546.6(TP53):c.712T>C (p.Cys238Arg)
|
rs1057519981
|
|
NM_000546.6(TP53):c.712T>G (p.Cys238Gly)
|
rs1057519981
|
|
NM_000546.6(TP53):c.713G>C (p.Cys238Ser)
|
rs730882005
|
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
rs730882005
|
|
NM_000546.6(TP53):c.721T>C (p.Ser241Pro)
|
rs1057520002
|
|
NM_000546.6(TP53):c.721T>G (p.Ser241Ala)
|
rs1057520002
|
|
NM_000546.6(TP53):c.722C>A (p.Ser241Tyr)
|
rs28934573
|
|
NM_000546.6(TP53):c.722C>G (p.Ser241Cys)
|
rs28934573
|
|
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)
|
rs28934573
|
|
NM_000546.6(TP53):c.730G>A (p.Gly244Ser)
|
rs1057519989
|
|
NM_000546.6(TP53):c.730G>C (p.Gly244Arg)
|
rs1057519989
|
|
NM_000546.6(TP53):c.730G>T (p.Gly244Cys)
|
rs1057519989
|
|
NM_000546.6(TP53):c.731G>A (p.Gly244Asp)
|
rs985033810
|
|
NM_000546.6(TP53):c.731G>T (p.Gly244Val)
|
rs985033810
|
|
NM_000546.6(TP53):c.733G>C (p.Gly245Arg)
|
rs28934575
|
|
NM_000546.6(TP53):c.733G>T (p.Gly245Cys)
|
rs28934575
|
|
NM_000546.6(TP53):c.734G>A (p.Gly245Asp)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>C (p.Gly245Ala)
|
rs121912656
|
|
NM_000546.6(TP53):c.734G>T (p.Gly245Val)
|
rs121912656
|
|
NM_000546.6(TP53):c.742C>G (p.Arg248Gly)
|
rs121912651
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.743G>C (p.Arg248Pro)
|
rs11540652
|
|
NM_000546.6(TP53):c.743G>T (p.Arg248Leu)
|
rs11540652
|
|
NM_000546.6(TP53):c.745A>G (p.Arg249Gly)
|
rs587782082
|
|
NM_000546.6(TP53):c.745A>T (p.Arg249Trp)
|
rs587782082
|
|
NM_000546.6(TP53):c.746G>A (p.Arg249Lys)
|
rs587782329
|
|
NM_000546.6(TP53):c.746G>C (p.Arg249Thr)
|
rs587782329
|
|
NM_000546.6(TP53):c.746G>T (p.Arg249Met)
|
rs587782329
|
|
NM_000546.6(TP53):c.763A>T (p.Ile255Phe)
|
rs1057519995
|
|
NM_000546.6(TP53):c.764T>A (p.Ile255Asn)
|
rs876659675
|
|
NM_000546.6(TP53):c.764T>C (p.Ile255Thr)
|
rs876659675
|
|
NM_000546.6(TP53):c.764T>G (p.Ile255Ser)
|
rs876659675
|
|
NM_000546.6(TP53):c.796G>C (p.Gly266Arg)
|
rs1057519990
|
|
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
|
rs193920774
|
|
NM_000546.6(TP53):c.797G>T (p.Gly266Val)
|
rs193920774
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.808T>A (p.Phe270Ile)
|
rs1057519988
|
|
NM_000546.6(TP53):c.808T>G (p.Phe270Val)
|
rs1057519988
|
|
NM_000546.6(TP53):c.809T>C (p.Phe270Ser)
|
rs1057519986
|
|
NM_000546.6(TP53):c.809T>G (p.Phe270Cys)
|
rs1057519986
|
|
NM_000546.6(TP53):c.810T>G (p.Phe270Leu)
|
rs1057519987
|
|
NM_000546.6(TP53):c.814G>A (p.Val272Met)
|
rs121912657
|
|
NM_000546.6(TP53):c.814G>T (p.Val272Leu)
|
rs121912657
|
|
NM_000546.6(TP53):c.815T>A (p.Val272Glu)
|
rs876660333
|
|
NM_000546.6(TP53):c.815T>G (p.Val272Gly)
|
rs876660333
|
|
NM_000546.6(TP53):c.817C>A (p.Arg273Ser)
|
rs121913343
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>C (p.Arg273Pro)
|
rs28934576
|
|
NM_000546.6(TP53):c.818G>T (p.Arg273Leu)
|
rs28934576
|
|
NM_000546.6(TP53):c.820G>C (p.Val274Leu)
|
rs1057520005
|
|
NM_000546.6(TP53):c.820G>T (p.Val274Phe)
|
rs1057520005
|
|
NM_000546.6(TP53):c.821T>A (p.Val274Asp)
|
rs1057520006
|
|
NM_000546.6(TP53):c.821T>C (p.Val274Ala)
|
rs1057520006
|
|
NM_000546.6(TP53):c.821T>G (p.Val274Gly)
|
rs1057520006
|
|
NM_000546.6(TP53):c.823T>C (p.Cys275Arg)
|
rs1057519983
|
|
NM_000546.6(TP53):c.824G>C (p.Cys275Ser)
|
rs863224451
|
|
NM_000546.6(TP53):c.824G>T (p.Cys275Phe)
|
rs863224451
|
|
NM_000546.6(TP53):c.832C>A (p.Pro278Thr)
|
rs17849781
|
|
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)
|
rs17849781
|
|
NM_000546.6(TP53):c.832C>T (p.Pro278Ser)
|
rs17849781
|
|
NM_000546.6(TP53):c.833C>A (p.Pro278His)
|
rs876659802
|
|
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)
|
rs876659802
|
|
NM_000546.6(TP53):c.833C>T (p.Pro278Leu)
|
rs876659802
|
|
NM_000546.6(TP53):c.838A>G (p.Arg280Gly)
|
rs753660142
|
|
NM_000546.6(TP53):c.839G>A (p.Arg280Lys)
|
rs121912660
|
|
NM_000546.6(TP53):c.839G>C (p.Arg280Thr)
|
rs121912660
|
|
NM_000546.6(TP53):c.839G>T (p.Arg280Ile)
|
rs121912660
|
|
NM_000546.6(TP53):c.844C>G (p.Arg282Gly)
|
rs28934574
|
|
NM_000546.6(TP53):c.845G>A (p.Arg282Gln)
|
rs730882008
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.856G>A (p.Glu286Lys)
|
rs786201059
|
|
NM_000546.6(TP53):c.856G>C (p.Glu286Gln)
|
rs786201059
|
|
NM_000546.6(TP53):c.857A>C (p.Glu286Ala)
|
rs1057519985
|
|
NM_000546.6(TP53):c.857A>G (p.Glu286Gly)
|
rs1057519985
|
|
NM_000546.6(TP53):c.857A>T (p.Glu286Val)
|
rs1057519985
|
|
NM_000548.5(TSC2):c.1221C>A (p.Tyr407Ter)
|
rs397514897
|
|
NM_000548.5(TSC2):c.138+5G>A
|
rs45481400
|
|
NM_000548.5(TSC2):c.225+1G>A
|
rs1567387207
|
|
NM_000548.5(TSC2):c.2318dup (p.Leu773fs)
|
rs1596350476
|
|
NM_000548.5(TSC2):c.2545+5G>C
|
rs1131691965
|
|
NM_000548.5(TSC2):c.2640-2A>G
|
rs137854380
|
|
NM_000548.5(TSC2):c.2859del (p.Lys954fs)
|
|
|
NM_000548.5(TSC2):c.3236C>A (p.Ser1079Ter)
|
rs397515087
|
|
NM_000548.5(TSC2):c.3284+1dup
|
|
|
NM_000548.5(TSC2):c.3824del (p.Phe1275fs)
|
rs1185513978
|
|
NM_000548.5(TSC2):c.4146del (p.Ser1383fs)
|
|
|
NM_000548.5(TSC2):c.4943T>C (p.Ile1648Thr)
|
rs45471896
|
|
NM_000548.5(TSC2):c.5168C>G (p.Ser1723Ter)
|
rs1060499676
|
|
NM_000548.5(TSC2):c.5237A>C (p.His1746Pro)
|
rs2151631825
|
|
NM_000693.4(ALDH1A3):c.1514T>C (p.Ile505Thr)
|
rs797046134
|
|
NM_000701.8(ATP1A1):c.2531T>C (p.Leu844Pro)
|
rs1653241392
|
|
NM_000702.4(ATP1A2):c.1022G>A (p.Cys341Tyr)
|
|
|
NM_000702.4(ATP1A2):c.1096G>A (p.Gly366Ser)
|
rs1553244883
|
|
NM_000702.4(ATP1A2):c.1103C>T (p.Thr368Met)
|
rs746383817
|
|
NM_000702.4(ATP1A2):c.12+1G>A
|
|
|
NM_000702.4(ATP1A2):c.1408_1409del (p.Asp470fs)
|
|
|
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His)
|
rs121918616
|
|
NM_000702.4(ATP1A2):c.1652-1G>T
|
|
|
NM_000702.4(ATP1A2):c.1965-2A>G
|
|
|
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs)
|
rs1558008455
|
|
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr)
|
rs28933400
|
|
NM_000702.4(ATP1A2):c.2284+1G>A
|
|
|
NM_000702.4(ATP1A2):c.2424C>G (p.Asp808Glu)
|
rs1570994712
|
|
NM_000702.4(ATP1A2):c.2434G>C (p.Asp812His)
|
rs1558008759
|
|
NM_000702.4(ATP1A2):c.2485A>G (p.Met829Val)
|
rs2101995847
|
|
NM_000702.4(ATP1A2):c.2501G>T (p.Arg834Leu)
|
|
|
NM_000702.4(ATP1A2):c.2564G>A (p.Gly855Glu)
|
rs149144720
|
|
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln)
|
rs2101996488
|
|
NM_000702.4(ATP1A2):c.2809C>T (p.Arg937Cys)
|
rs1558009266
|
|
NM_000702.4(ATP1A2):c.2809del (p.Arg937fs)
|
rs1651974671
|
|
NM_000702.4(ATP1A2):c.2810G>A (p.Arg937His)
|
rs1553245943
|
|
NM_000702.4(ATP1A2):c.3020G>A (p.Arg1007Gln)
|
|
|
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter)
|
rs1570998206
|
|
NM_000702.4(ATP1A2):c.381+1G>A
|
rs2101985522
|
|
NM_000702.4(ATP1A2):c.495+2T>C
|
|
|
NM_000702.4(ATP1A2):c.496-1G>A
|
rs773117459
|
|
NM_000702.4(ATP1A2):c.604C>T (p.Arg202Trp)
|
rs1219118149
|
|
NM_000702.4(ATP1A2):c.748+1G>C
|
|
|
NM_000702.4(ATP1A2):c.788C>T (p.Thr263Met)
|
rs777400961
|
|
NM_000702.4(ATP1A2):c.835del (p.Arg279fs)
|
rs1558005340
|
|
NM_000702.4(ATP1A2):c.902G>A (p.Gly301Glu)
|
|
|
NM_000702.4(ATP1A2):c.910TTC[1] (p.Phe305del)
|
|
|
NM_000719.7(CACNA1C):c.1973T>C (p.Leu658Pro)
|
rs2060536584
|
|
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
|
|
|
NM_000744.7(CHRNA4):c.1113_1114insTATG (p.Ile372fs)
|
|
|
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)
|
rs28931591
|
|
NM_000748.3(CHRNB2):c.256-1G>A
|
|
|
NM_000748.3(CHRNB2):c.845T>A (p.Leu282His)
|
rs1696167453
|
|
NM_000748.3(CHRNB2):c.859G>T (p.Val287Leu)
|
|
|
NM_000784.4(CYP27A1):c.1005del (p.Gly336fs)
|
rs1575206357
|
|
NM_000784.4(CYP27A1):c.1017+1del
|
rs1559392904
|
|
NM_000784.4(CYP27A1):c.1018-1G>C
|
rs1575206658
|
|
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)
|
rs1470602732
|
|
NM_000784.4(CYP27A1):c.1061del (p.Asp354fs)
|
|
|
NM_000784.4(CYP27A1):c.1064del (p.Pro355fs)
|
rs1575206688
|
|
NM_000784.4(CYP27A1):c.108del (p.Ser37fs)
|
|
|
NM_000784.4(CYP27A1):c.1126C>T (p.Gln376Ter)
|
|
|
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
|
|
|
NM_000784.4(CYP27A1):c.1146_1151delinsAAGCT (p.His382fs)
|
|
|
NM_000784.4(CYP27A1):c.1170del (p.Lys391fs)
|
|
|
NM_000784.4(CYP27A1):c.1180_1181del (p.Leu394fs)
|
rs1178393503
|
|
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser)
|
rs121908096
|
|
NM_000784.4(CYP27A1):c.1185-2A>C
|
rs1553616457
|
|
NM_000784.4(CYP27A1):c.1185-2A>T
|
rs1553616457
|
|
NM_000784.4(CYP27A1):c.11_20dup (p.Arg8fs)
|
rs886041342
|
|
NM_000784.4(CYP27A1):c.1209C>G (p.Asn403Lys)
|
rs587778781
|
|
NM_000784.4(CYP27A1):c.1264-2A>G
|
rs1553616478
|
|
NM_000784.4(CYP27A1):c.1333del (p.Gln445fs)
|
|
|
NM_000784.4(CYP27A1):c.1374dup (p.Arg459fs)
|
|
|
NM_000784.4(CYP27A1):c.1421G>C (p.Arg474Pro)
|
|
|
NM_000784.4(CYP27A1):c.1427del (p.Cys476fs)
|
rs1553616508
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.1436G>A (p.Arg479His)
|
rs199638075
|
|
NM_000784.4(CYP27A1):c.1436G>C (p.Arg479Pro)
|
|
|
NM_000784.4(CYP27A1):c.1436G>T (p.Arg479Leu)
|
rs199638075
|
|
NM_000784.4(CYP27A1):c.1453G>T (p.Glu485Ter)
|
|
|
NM_000784.4(CYP27A1):c.1459C>T (p.Gln487Ter)
|
rs1943770060
|
|
NM_000784.4(CYP27A1):c.1468del (p.Leu490fs)
|
|
|
NM_000784.4(CYP27A1):c.1472dup (p.Arg492fs)
|
|
|
NM_000784.4(CYP27A1):c.1477-1G>A
|
|
|
NM_000784.4(CYP27A1):c.1477-2A>C
|
rs111570247
|
|
NM_000784.4(CYP27A1):c.1538G>A (p.Arg513His)
|
rs144701596
|
|
NM_000784.4(CYP27A1):c.1573C>T (p.Gln525Ter)
|
rs374507635
|
|
NM_000784.4(CYP27A1):c.193C>T (p.Gln65Ter)
|
rs1553614310
|
|
NM_000784.4(CYP27A1):c.20del (p.Ala7fs)
|
|
|
NM_000784.4(CYP27A1):c.256-1G>T
|
rs886556800
|
|
NM_000784.4(CYP27A1):c.264C>A (p.Tyr88Ter)
|
rs1943689487
|
|
NM_000784.4(CYP27A1):c.287G>A (p.Trp96Ter)
|
rs1943689766
|
|
NM_000784.4(CYP27A1):c.307C>T (p.Gln103Ter)
|
rs1943689944
|
|
NM_000784.4(CYP27A1):c.358C>T (p.Gln120Ter)
|
rs1943690848
|
|
NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly)
|
|
|
NM_000784.4(CYP27A1):c.389T>A (p.Met130Lys)
|
|
|
NM_000784.4(CYP27A1):c.395del (p.Leu132fs)
|
|
|
NM_000784.4(CYP27A1):c.398G>A (p.Trp133Ter)
|
rs1559391480
|
|
NM_000784.4(CYP27A1):c.410G>C (p.Arg137Pro)
|
|
|
NM_000784.4(CYP27A1):c.426_430del (p.Thr143fs)
|
|
|
NM_000784.4(CYP27A1):c.440_446+2del
|
rs2105978950
|
|
NM_000784.4(CYP27A1):c.447-1G>A
|
rs2105979879
|
|
NM_000784.4(CYP27A1):c.461G>A (p.Trp154Ter)
|
|
|
NM_000784.4(CYP27A1):c.473dup (p.Gln159fs)
|
|
|
NM_000784.4(CYP27A1):c.494T>A (p.Leu165Ter)
|
|
|
NM_000784.4(CYP27A1):c.522T>A (p.Tyr174Ter)
|
|
|
NM_000784.4(CYP27A1):c.526del (p.Asp176fs)
|
rs765512351
|
|
NM_000784.4(CYP27A1):c.539del (p.Glu180fs)
|
rs1553616235
|
|
NM_000784.4(CYP27A1):c.547del (p.Asp183fs)
|
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000784.4(CYP27A1):c.58del (p.Leu20fs)
|
rs2106479076
|
|
NM_000784.4(CYP27A1):c.608C>A (p.Ser203Ter)
|
rs186812403
|
|
NM_000784.4(CYP27A1):c.608_614del (p.Ser203fs)
|
|
|
NM_000784.4(CYP27A1):c.646+1G>A
|
|
|
NM_000784.4(CYP27A1):c.646+1G>C
|
rs79535262
|
|
NM_000784.4(CYP27A1):c.646+2T>C
|
rs1553616253
|
|
NM_000784.4(CYP27A1):c.657C>A (p.Tyr219Ter)
|
rs1414259537
|
|
NM_000784.4(CYP27A1):c.666_678del (p.Phe222fs)
|
rs755532803
|
|
NM_000784.4(CYP27A1):c.685_688del (p.Leu229fs)
|
|
|
NM_000784.4(CYP27A1):c.703G>T (p.Glu235Ter)
|
|
|
NM_000784.4(CYP27A1):c.724A>T (p.Arg242Ter)
|
|
|
NM_000784.4(CYP27A1):c.803G>A (p.Trp268Ter)
|
rs1943736070
|
|
NM_000784.4(CYP27A1):c.804G>T (p.Trp268Cys)
|
rs1943736101
|
|
NM_000784.4(CYP27A1):c.825G>A (p.Trp275Ter)
|
|
|
NM_000784.4(CYP27A1):c.845-1G>C
|
|
|
NM_000784.4(CYP27A1):c.845-2A>G
|
rs1553616312
|
|
NM_000784.4(CYP27A1):c.845-46_881del
|
|
|
NM_000784.4(CYP27A1):c.847A>T (p.Lys283Ter)
|
rs1057519469
|
|
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs)
|
rs397515356
|
|
NM_000784.4(CYP27A1):c.953del (p.Gly318fs)
|
|
|
NM_000784.4(CYP27A1):c.955C>T (p.Gln319Ter)
|
rs1943741125
|
|
NM_000784.4(CYP27A1):c.985_994del (p.Leu329fs)
|
|
|
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
|
|
|
NM_000807.4(GABRA2):c.875C>T (p.Thr292Ile)
|
rs1577800481
|
|
NM_000807.4(GABRA2):c.995C>T (p.Ala332Val)
|
rs2109351409
|
|
NM_000810.4(GABRA5):c.902C>G (p.Thr301Arg)
|
rs1595438268
|
|
NM_000812.4(GABRB1):c.157C>T (p.Arg53Trp)
|
rs1135401786
|
|
NM_000812.4(GABRB1):c.757C>T (p.Pro253Ser)
|
rs2110051822
|
|
NM_000812.4(GABRB1):c.854C>A (p.Thr285Lys)
|
rs1728584859
|
|
NM_000812.4(GABRB1):c.860C>T (p.Thr287Ile)
|
rs886039818
|
|
NM_000812.4(GABRB1):c.898A>T (p.Ile300Phe)
|
|
|
NM_000814.6(GABRB3):c.154C>G (p.Leu52Val)
|
|
|
NM_000814.6(GABRB3):c.173-2A>T
|
rs1891176092
|
|
NM_000814.6(GABRB3):c.239T>G (p.Met80Arg)
|
rs1064794797
|
|
NM_000814.6(GABRB3):c.493C>T (p.Leu165Phe)
|
|
|
NM_000814.6(GABRB3):c.496A>G (p.Arg166Gly)
|
rs1890857965
|
|
NM_000814.6(GABRB3):c.630G>C (p.Gln210His)
|
rs1890744574
|
|
NM_000814.6(GABRB3):c.674T>G (p.Phe225Cys)
|
rs1890742227
|
|
NM_000814.6(GABRB3):c.695G>A (p.Arg232Gln)
|
rs797045045
|
|
NM_000814.6(GABRB3):c.733T>C (p.Tyr245His)
|
rs1890229646
|
|
NM_000814.6(GABRB3):c.758C>T (p.Pro253Leu)
|
|
|
NM_000814.6(GABRB3):c.767T>A (p.Leu256Gln)
|
rs1890228169
|
|
NM_000814.6(GABRB3):c.778C>G (p.Leu260Val)
|
rs2140696722
|
|
NM_000814.6(GABRB3):c.841A>G (p.Thr281Ala)
|
rs1555401442
|
|
NM_000814.6(GABRB3):c.911A>G (p.Lys304Arg)
|
rs1889966043
|
|
NM_000814.6(GABRB3):c.914C>T (p.Ala305Val)
|
rs1555401425
|
|
NM_000817.3(GAD1):c.1297G>T (p.Gly433Ter)
|
|
|
NM_000817.3(GAD1):c.1370G>A (p.Arg457His)
|
|
|
NM_000817.3(GAD1):c.1402T>G (p.Trp468Gly)
|
rs1575446166
|
|
NM_000817.3(GAD1):c.548-2A>C
|
|
|
NM_000823.4(GHRHR):c.260C>A (p.Ser87Ter)
|
|
|
NM_000823.4(GHRHR):c.418T>C (p.Ser140Pro)
|
rs606231412
|
|
NM_000823.4(GHRHR):c.495C>A (p.His165Gln)
|
rs606231413
|
|
NM_000823.4(GHRHR):c.[1102C>T;481C>T]
|
|
|
NM_000827.4(GRIA1):c.1538G>A (p.Gly513Glu)
|
|
|
NM_000827.4(GRIA1):c.1906G>A (p.Ala636Thr)
|
rs587776937
|
|
NM_000827.4(GRIA1):c.2234G>A (p.Gly745Asp)
|
rs1561846159
|
|
NM_000827.4(GRIA1):c.2615G>C (p.Ser872Thr)
|
|
|
NM_000829.4(GRIA4):c.1915A>T (p.Thr639Ser)
|
rs1555050158
|
|
NM_000829.4(GRIA4):c.1921A>G (p.Asn641Asp)
|
rs1555050165
|
|
NM_000829.4(GRIA4):c.1928C>G (p.Ala643Gly)
|
rs1555050171
|
|
NM_000829.4(GRIA4):c.1931C>T (p.Ala644Val)
|
rs1555050174
|
|
NM_000829.4(GRIA4):c.2090G>C (p.Arg697Pro)
|
rs765556214
|
|
NM_000833.3:c.(?_-310-1)_(414+1_415-1)del
|
|
|
NM_000834.5(GRIN2B):c.1022A>T (p.Asn341Ile)
|
rs1950069464
|
|
NM_000834.5(GRIN2B):c.1237G>A (p.Glu413Lys)
|
|
|
NM_000834.5(GRIN2B):c.1280G>T (p.Gly427Val)
|
rs1591643530
|
|
NM_000834.5(GRIN2B):c.1287C>A (p.Cys429Ter)
|
rs747172511
|
|
NM_000834.5(GRIN2B):c.1306T>C (p.Cys436Arg)
|
rs1565478152
|
|
NM_000834.5(GRIN2B):c.1308C>A (p.Cys436Ter)
|
|
|
NM_000834.5(GRIN2B):c.1367G>A (p.Cys456Tyr)
|
rs397514555
|
|
NM_000834.5(GRIN2B):c.1382G>T (p.Cys461Phe)
|
rs1949427787
|
|
NM_000834.5(GRIN2B):c.1458T>A (p.His486Gln)
|
rs763436882
|
|
NM_000834.5(GRIN2B):c.1495G>A (p.Gly499Arg)
|
rs867553974
|
|
NM_000834.5(GRIN2B):c.1496G>T (p.Gly499Val)
|
rs1949425904
|
|
NM_000834.5(GRIN2B):c.1500+1G>A
|
|
|
NM_000834.5(GRIN2B):c.1540A>G (p.Thr514Ala)
|
rs1949421055
|
|
NM_000834.5(GRIN2B):c.1547A>G (p.Asn516Ser)
|
rs886041295
|
|
NM_000834.5(GRIN2B):c.1549G>A (p.Glu517Lys)
|
|
|
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
|
|
|
NM_000834.5(GRIN2B):c.1573T>G (p.Phe525Val)
|
rs1949420397
|
|
NM_000834.5(GRIN2B):c.1598G>A (p.Gly533Asp)
|
rs1060499659
|
|
NM_000834.5(GRIN2B):c.1607T>C (p.Val536Ala)
|
|
|
NM_000834.5(GRIN2B):c.1618C>T (p.Arg540Cys)
|
|
|
NM_000834.5(GRIN2B):c.1619G>A (p.Arg540His)
|
rs672601378
|
|
NM_000834.5(GRIN2B):c.1627G>A (p.Gly543Arg)
|
|
|
NM_000834.5(GRIN2B):c.1628_1633del (p.Gly543_Thr544del)
|
|
|
NM_000834.5(GRIN2B):c.1646C>T (p.Ala549Val)
|
|
|
NM_000834.5(GRIN2B):c.1658C>T (p.Pro553Leu)
|
rs397514556
|
|
NM_000834.5(GRIN2B):c.1664G>T (p.Ser555Ile)
|
rs1949369220
|
|
NM_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg)
|
rs1949368959
|
|
NM_000834.5(GRIN2B):c.1685T>G (p.Met562Arg)
|
rs1949368766
|
|
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1])
|
rs1555111511
|
|
NM_000834.5(GRIN2B):c.1739T>A (p.Phe580Tyr)
|
rs199801114
|
|
NM_000834.5(GRIN2B):c.1821G>C (p.Trp607Cys)
|
rs1057518700
|
|
NM_000834.5(GRIN2B):c.1821G>T (p.Trp607Cys)
|
rs1057518700
|
|
NM_000834.5(GRIN2B):c.1831G>C (p.Gly611Arg)
|
rs2136470509
|
|
NM_000834.5(GRIN2B):c.1832G>T (p.Gly611Val)
|
rs1555110843
|
|
NM_000834.5(GRIN2B):c.1844A>T (p.Asn615Ile)
|
rs672601377
|
|
NM_000834.5(GRIN2B):c.1845C>G (p.Asn615Lys)
|
rs1949321538
|
|
NM_000834.5(GRIN2B):c.1847A>G (p.Asn616Ser)
|
rs1949321492
|
|
NM_000834.5(GRIN2B):c.1848C>G (p.Asn616Lys)
|
rs1949321461
|
|
NM_000834.5(GRIN2B):c.1853T>G (p.Val618Gly)
|
rs672601376
|
|
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met)
|
rs796052571
|
|
NM_000834.5(GRIN2B):c.1883C>G (p.Ser628Cys)
|
rs1949320966
|
|
NM_000834.5(GRIN2B):c.1883C>T (p.Ser628Phe)
|
rs1949320966
|
|
NM_000834.5(GRIN2B):c.1906G>C (p.Ala636Pro)
|
rs1949320812
|
|
NM_000834.5(GRIN2B):c.1907C>T (p.Ala636Val)
|
rs1555110818
|
|
NM_000834.5(GRIN2B):c.1916C>T (p.Ala639Val)
|
rs797044930
|
|
NM_000834.5(GRIN2B):c.1928T>C (p.Leu643Pro)
|
rs2136470302
|
|
NM_000834.5(GRIN2B):c.1946A>C (p.Asn649Thr)
|
rs879253945
|
|
NM_000834.5(GRIN2B):c.1961T>G (p.Met654Arg)
|
rs1949320254
|
|
NM_000834.5(GRIN2B):c.1963A>G (p.Ile655Val)
|
rs1949320223
|
|
NM_000834.5(GRIN2B):c.1963A>T (p.Ile655Phe)
|
rs1949320223
|
|
NM_000834.5(GRIN2B):c.1970A>G (p.Glu657Gly)
|
rs876661041
|
|
NM_000834.5(GRIN2B):c.1971G>C (p.Glu657Asp)
|
rs771157135
|
|
NM_000834.5(GRIN2B):c.1985A>C (p.Gln662Pro)
|
rs1949319877
|
|
NM_000834.5(GRIN2B):c.2002G>A (p.Asp668Asn)
|
rs876661151
|
|
NM_000834.5(GRIN2B):c.2002G>T (p.Asp668Tyr)
|
rs876661151
|
|
NM_000834.5(GRIN2B):c.2010+1G>C
|
|
|
NM_000834.5(GRIN2B):c.2011-2_2038dup
|
rs1591612370
|
|
NM_000834.5(GRIN2B):c.2044C>T (p.Arg682Cys)
|
rs387906636
|
|
NM_000834.5(GRIN2B):c.2045G>A (p.Arg682His)
|
rs886041095
|
|
NM_000834.5(GRIN2B):c.2060C>G (p.Pro687Arg)
|
rs1555103986
|
|
NM_000834.5(GRIN2B):c.2060C>T (p.Pro687Leu)
|
rs1555103986
|
|
NM_000834.5(GRIN2B):c.2065G>A (p.Gly689Ser)
|
|
|
NM_000834.5(GRIN2B):c.2079A>T (p.Arg693Ser)
|
rs1948713322
|
|
NM_000834.5(GRIN2B):c.2081A>G (p.Asn694Ser)
|
rs1591612317
|
|
NM_000834.5(GRIN2B):c.2084T>C (p.Ile695Thr)
|
rs876661219
|
|
NM_000834.5(GRIN2B):c.2086C>T (p.Arg696Cys)
|
|
|
NM_000834.5(GRIN2B):c.2087G>A (p.Arg696His)
|
rs1555103971
|
|
NM_000834.5(GRIN2B):c.2116A>G (p.Met706Val)
|
rs1057518988
|
|
NM_000834.5(GRIN2B):c.2125T>G (p.Phe709Val)
|
rs1591612279
|
|
NM_000834.5(GRIN2B):c.2196T>G (p.Asp732Glu)
|
rs1591611001
|
|
NM_000834.5(GRIN2B):c.2197G>C (p.Ala733Pro)
|
rs2136413399
|
|
NM_000834.5(GRIN2B):c.2198C>A (p.Ala733Glu)
|
|
|
NM_000834.5(GRIN2B):c.2201C>T (p.Ala734Val)
|
rs876661064
|
|
NM_000834.5(GRIN2B):c.2216T>C (p.Met739Thr)
|
rs1555103652
|
|
NM_000834.5(GRIN2B):c.2225G>T (p.Arg742Ile)
|
rs1555103646
|
|
NM_000834.5(GRIN2B):c.2252T>C (p.Ile751Thr)
|
rs876661055
|
|
NM_000834.5(GRIN2B):c.2392A>C (p.Thr798Pro)
|
rs1948653017
|
|
NM_000834.5(GRIN2B):c.2395G>A (p.Gly799Ser)
|
rs1057518800
|
|
NM_000834.5(GRIN2B):c.2419G>A (p.Glu807Lys)
|
rs1948652687
|
|
NM_000834.5(GRIN2B):c.2429G>A (p.Ser810Asn)
|
rs1591609136
|
|
NM_000834.5(GRIN2B):c.2437C>G (p.Leu813Val)
|
rs1948652423
|
|
NM_000834.5(GRIN2B):c.2450A>G (p.Asn817Ser)
|
rs1555103159
|
|
NM_000834.5(GRIN2B):c.2452A>C (p.Met818Leu)
|
rs876661076
|
|
NM_000834.5(GRIN2B):c.2452A>G (p.Met818Val)
|
|
|
NM_000834.5(GRIN2B):c.2453T>A (p.Met818Lys)
|
|
|
NM_000834.5(GRIN2B):c.2453T>C (p.Met818Thr)
|
rs879254016
|
|
NM_000834.5(GRIN2B):c.2454G>A (p.Met818Ile)
|
rs2136409777
|
|
NM_000834.5(GRIN2B):c.2455G>A (p.Ala819Thr)
|
rs1948652117
|
|
NM_000834.5(GRIN2B):c.2456C>T (p.Ala819Val)
|
|
|
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu)
|
rs797044849
|
|
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)
|
rs797044849
|
|
NM_000834.5(GRIN2B):c.2459G>T (p.Gly820Val)
|
rs797044849
|
|
NM_000834.5(GRIN2B):c.2470A>G (p.Met824Val)
|
|
|
NM_000834.5(GRIN2B):c.2471T>G (p.Met824Arg)
|
rs1565455878
|
|
NM_000834.5(GRIN2B):c.2472G>A (p.Met824Ile)
|
rs2136409732
|
|
NM_000834.5(GRIN2B):c.2473T>G (p.Leu825Val)
|
rs1948651813
|
|
NM_000834.5(GRIN2B):c.2477G>A (p.Gly826Glu)
|
rs1064794979
|
|
NM_000834.5(GRIN2B):c.2511_2512del (p.Ile837fs)
|
|
|
NM_000834.5(GRIN2B):c.2515G>A (p.Glu839Lys)
|
rs1085307547
|
|
NM_000834.5(GRIN2B):c.2555G>C (p.Gly852Ala)
|
rs1168374610
|
|
NM_000834.5(GRIN2B):c.2591del (p.Ile864fs)
|
|
|
NM_000834.5(GRIN2B):c.2684_2685del (p.His895fs)
|
|
|
NM_000834.5(GRIN2B):c.3259del (p.Asp1087fs)
|
rs2136405082
|
|
NM_000834.5(GRIN2B):c.3332G>A (p.Arg1111His)
|
rs876661167
|
|
NM_000834.5(GRIN2B):c.3388C>T (p.Arg1130Trp)
|
rs1320154351
|
|
NM_000834.5(GRIN2B):c.3912C>G (p.Tyr1304Ter)
|
rs1407009840
|
|
NM_000834.5(GRIN2B):c.3944C>T (p.Ala1315Val)
|
rs1591605514
|
|
NM_000834.5(GRIN2B):c.412-2A>G
|
rs2136629609
|
|
NM_000834.5(GRIN2B):c.4256C>T (p.Pro1419Leu)
|
|
|
NM_000834.5(GRIN2B):c.448A>G (p.Ile150Val)
|
rs796052570
|
|
NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)
|
|
|
NM_000834.5(GRIN2B):c.99dup (p.Ser34fs)
|
rs398122823
|
|
NM_000836.4(GRIN2D):c.1345G>A (p.Asp449Asn)
|
rs1569064110
|
|
NM_000836.4(GRIN2D):c.1724C>T (p.Ser575Leu)
|
rs1970945661
|
|
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)
|
rs886040861
|
|
NM_000836.4(GRIN2D):c.2023G>A (p.Ala675Thr)
|
rs1970995171
|
|
NM_000836.4(GRIN2D):c.2029C>G (p.Leu677Val)
|
rs901526282
|
|
NM_000836.4(GRIN2D):c.2033C>A (p.Ala678Asp)
|
rs2147455922
|
|
NM_000836.4(GRIN2D):c.2330C>T (p.Thr777Ile)
|
|
|
NM_000836.4(GRIN2D):c.2533A>G (p.Met845Val)
|
rs2147475435
|
|
NM_000836.4(GRIN2D):c.3812C>T (p.Ser1271Leu)
|
rs1971341588
|
|
NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp)
|
rs1114167300
|
|
NM_000844.4(GRM7):c.2024C>A (p.Thr675Lys)
|
rs1114167301
|
|
NM_000875.5(IGF1R):c.1093C>T (p.Arg365Ter)
|
rs2151652750
|
|
NM_000875.5(IGF1R):c.2257C>T (p.Arg753Ter)
|
rs1173681603
|
|
NM_000925.4(PDHB):c.121C>T (p.Gln41Ter)
|
|
|
NM_000925.4(PDHB):c.122_123del (p.Gln41fs)
|
|
|
NM_000925.4(PDHB):c.211C>T (p.Arg71Ter)
|
|
|
NM_000925.4(PDHB):c.303+1G>C
|
|
|
NM_000925.4(PDHB):c.304-1G>C
|
|
|
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)
|
rs201199166
|
|
NM_000925.4(PDHB):c.314G>A (p.Arg105Gln)
|
rs868788199
|
|
NM_000925.4(PDHB):c.352C>T (p.Gln118Ter)
|
|
|
NM_000925.4(PDHB):c.41_43-12del
|
|
|
NM_000925.4(PDHB):c.469C>T (p.Gln157Ter)
|
|
|
NM_000925.4(PDHB):c.607G>T (p.Glu203Ter)
|
|
|
NM_000925.4(PDHB):c.716_717del (p.Val239fs)
|
|
|
NM_000925.4(PDHB):c.818del (p.Pro273fs)
|
|
|
NM_000925.4(PDHB):c.934+1G>A
|
|
|
NM_000925.4(PDHB):c.96+2T>C
|
rs2107943571
|
|
NM_000944.5(PPP3CA):c.1255_1256del (p.Ser419fs)
|
rs1553920383
|
|
NM_000944.5(PPP3CA):c.1283dup (p.Thr429fs)
|
rs1727004803
|
|
NM_000944.5(PPP3CA):c.1477G>A (p.Asp493Asn)
|
rs1726628642
|
|
NM_000944.5(PPP3CA):c.34_43del (p.Ser12fs)
|
rs2110348535
|
|
NM_000944.5(PPP3CA):c.530C>G (p.Ala177Gly)
|
rs2110253722
|
|
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln)
|
rs199706529
|
|
NM_000965.5(RARB):c.638T>C (p.Leu213Pro)
|
rs869025222
|
|
NM_001001344.3(ATP2B3):c.2770A>G (p.Thr924Ala)
|
rs2124491843
|
|
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn)
|
rs782596945
|
|
NM_001003694.2(BRPF1):c.1038del (p.Arg347fs)
|
rs2125500625
|
|
NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs)
|
rs2076994968
|
|
NM_001003694.2(BRPF1):c.1433G>A (p.Trp478Ter)
|
rs2125501418
|
|
NM_001003694.2(BRPF1):c.1612C>T (p.Gln538Ter)
|
|
|
NM_001003694.2(BRPF1):c.1667T>A (p.Leu556Ter)
|
rs2125503212
|
|
NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs)
|
rs1559662068
|
|
NM_001003694.2(BRPF1):c.1759C>T (p.Gln587Ter)
|
rs1559662077
|
|
NM_001003694.2(BRPF1):c.2T>G (p.Met1Arg)
|
rs2125489641
|
|
NM_001003694.2(BRPF1):c.3068+1G>T
|
rs2077101479
|
|
NM_001003694.2(BRPF1):c.3069-1G>A
|
|
|
NM_001003694.2(BRPF1):c.3263dup (p.Leu1089fs)
|
rs2125515297
|
|
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del)
|
rs1553697341
|
|
NM_001003694.2(BRPF1):c.67T>C (p.Cys23Arg)
|
rs2076901423
|
|
NM_001003694.2(BRPF1):c.898G>A (p.Val300Met)
|
rs2125500407
|
|
NM_001003787.4(STRADA):c.1101-1G>C
|
rs1598144913
|
|
NM_001003787.4(STRADA):c.37-1G>C
|
rs1230074670
|
|
NM_001003787.4(STRADA):c.458-1G>A
|
|
|
NM_001005273.3(CHD3):c.1369G>T (p.Glu457Ter)
|
rs1567844992
|
|
NM_001005273.3(CHD3):c.2657A>G (p.His886Arg)
|
rs1567855081
|
|
NM_001005273.3(CHD3):c.2745G>T (p.Leu915Phe)
|
rs1567855669
|
|
NM_001005273.3(CHD3):c.2761G>A (p.Glu921Lys)
|
rs1567855704
|
|
NM_001005273.3(CHD3):c.2882G>A (p.Gly961Glu)
|
rs1567856045
|
|
NM_001005273.3(CHD3):c.2953C>T (p.Arg985Trp)
|
rs1555611722
|
|
NM_001005273.3(CHD3):c.2954G>A (p.Arg985Gln)
|
rs1567856331
|
|
NM_001005273.3(CHD3):c.3322GGT[1] (p.Gly1109del)
|
rs1567859975
|
|
NM_001005273.3(CHD3):c.3357_3358delinsTC (p.Asp1120His)
|
rs1567860075
|
|
NM_001005273.3(CHD3):c.3362G>C (p.Arg1121Pro)
|
rs1567860112
|
|
NM_001005273.3(CHD3):c.3407C>T (p.Thr1136Ile)
|
rs1567860640
|
|
NM_001005273.3(CHD3):c.3472T>C (p.Trp1158Arg)
|
rs1567860891
|
|
NM_001005273.3(CHD3):c.3477C>A (p.Asn1159Lys)
|
rs754919272
|
|
NM_001005273.3(CHD3):c.3482A>G (p.His1161Arg)
|
rs1567860919
|
|
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp)
|
rs1567861468
|
|
NM_001005273.3(CHD3):c.3512A>G (p.His1171Arg)
|
rs1567861489
|
|
NM_001005273.3(CHD3):c.3515G>A (p.Arg1172Gln)
|
rs1567861501
|
|
NM_001005273.3(CHD3):c.3560G>C (p.Arg1187Pro)
|
rs1567861571
|
|
NM_001005273.3(CHD3):c.3707T>C (p.Leu1236Pro)
|
rs1567861894
|
|
NM_001005273.3(CHD3):c.4025G>A (p.Arg1342Gln)
|
rs1567863732
|
|
NM_001005273.3(CHD3):c.4073-2A>G
|
rs1567864750
|
|
NM_001005273.3(CHD3):c.5642G>T (p.Arg1881Leu)
|
rs1567877108
|
|
NM_001005273.3(CHD3):c.5802_5803insGAAC (p.Phe1935fs)
|
rs1567878511
|
|
NM_001005920.4(JMJD8):c.*65A>G
|
rs1555475794
|
|
NM_001008537.3(NEXMIF):c.1123del (p.Glu375fs)
|
rs886041774
|
|
NM_001008537.3(NEXMIF):c.1275_1276delinsAT (p.Gln426Ter)
|
|
|
NM_001008537.3(NEXMIF):c.1635_1636del (p.Asn546fs)
|
rs2080112105
|
|
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)
|
rs786205208
|
|
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs)
|
rs2080109236
|
|
NM_001008537.3(NEXMIF):c.3310G>T (p.Gly1104Ter)
|
rs2147439567
|
|
NM_001008537.3(NEXMIF):c.3395_3398del (p.Asn1132fs)
|
rs2147439499
|
|
NM_001008537.3(NEXMIF):c.3437C>A (p.Ser1146Tyr)
|
rs2080101583
|
|
NM_001008537.3(NEXMIF):c.3539C>A (p.Ser1180Ter)
|
|
|
NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter)
|
rs2147439364
|
|
NM_001008537.3(NEXMIF):c.3630del (p.Lys1210fs)
|
rs778917289
|
|
NM_001008537.3(NEXMIF):c.3859A>T (p.Lys1287Ter)
|
|
|
NM_001008537.3(NEXMIF):c.67del (p.Val23fs)
|
rs2147442619
|
|
NM_001008537.3(NEXMIF):c.791_792del (p.Phe264fs)
|
rs2080116462
|
|
NM_001009999.3(KDM1A):c.1196A>G (p.Asp399Gly)
|
rs1553130904
|
|
NM_001012614.2(CTBP1):c.125_127del (p.Phe42del)
|
rs1731781760
|
|
NM_001015877.2(PHF6):c.1022A>G (p.Glu341Gly)
|
rs2077504269
|
|
NM_001015877.2(PHF6):c.146C>T (p.Ser49Leu)
|
|
|
NM_001015877.2(PHF6):c.376delinsCC (p.Val126fs)
|
|
|
NM_001015877.2(PHF6):c.65C>A (p.Ser22Ter)
|
rs1569334260
|
|
NM_001015877.2(PHF6):c.729+2T>C
|
|
|
NM_001015877.2(PHF6):c.757ACA[2] (p.Thr255del)
|
rs1556019105
|
|
NM_001015877.2(PHF6):c.802G>C (p.Val268Leu)
|
rs2077467347
|
|
NM_001015877.2(PHF6):c.931_932del (p.Lys310_Ala311insTer)
|
rs2124252847
|
|
NM_001018111.3(PODXL):c.89_90insGTCGCCCC (p.Gln32fs)
|
rs1554391082
|
|
NM_001020658.2(PUM1):c.1773del (p.Ser592fs)
|
rs1640658015
|
|
NM_001020658.2(PUM1):c.3415C>T (p.Arg1139Trp)
|
rs1557541619
|
|
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp)
|
rs1557539450
|
|
NM_001020658.2(PUM1):c.46G>T (p.Asp16Tyr)
|
rs1644321851
|
|
NM_001024845.3(SLC6A9):c.1536+1G>A
|
|
|
NM_001024845.3(SLC6A9):c.235C>T (p.Pro79Ser)
|
rs2154305890
|
|
NM_001024845.3(SLC6A9):c.31-6164G>C
|
rs2154306852
|
|
NM_001029896.2(WDR45):c.225dup (p.Glu76fs)
|
rs1602540235
|
|
NM_001029896.2(WDR45):c.694C>T (p.Arg232Cys)
|
rs1602537958
|
|
NM_001032221.6(STXBP1):c.1003C>T (p.Pro335Ser)
|
rs1085307916
|
|
NM_001032221.6(STXBP1):c.1004C>T (p.Pro335Leu)
|
rs398123695
|
|
NM_001032221.6(STXBP1):c.1039C>G (p.His347Asp)
|
rs1841611651
|
|
NM_001032221.6(STXBP1):c.1043T>C (p.Leu348Pro)
|
rs2131501072
|
|
NM_001032221.6(STXBP1):c.1060T>G (p.Cys354Gly)
|
rs886041337
|
|
NM_001032221.6(STXBP1):c.1061G>A (p.Cys354Tyr)
|
rs796053365
|
|
NM_001032221.6(STXBP1):c.107T>A (p.Leu36Ter)
|
|
|
NM_001032221.6(STXBP1):c.1110+1G>A
|
|
|
NM_001032221.6(STXBP1):c.1110+2T>G
|
|
|
NM_001032221.6(STXBP1):c.1110+3A>C
|
rs2131501481
|
|
NM_001032221.6(STXBP1):c.1111-10_1111-6delinsG
|
rs1588339504
|
|
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.1217G>T (p.Arg406Leu)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.122T>A (p.Leu41Gln)
|
|
|
NM_001032221.6(STXBP1):c.124T>C (p.Ser42Pro)
|
rs886041668
|
|
NM_001032221.6(STXBP1):c.1250-2A>G
|
|
|
NM_001032221.6(STXBP1):c.125C>A (p.Ser42Tyr)
|
rs1840655911
|
|
NM_001032221.6(STXBP1):c.125CCT[1] (p.Ser43del)
|
rs796053381
|
|
NM_001032221.6(STXBP1):c.1277T>C (p.Leu426Pro)
|
rs886039435
|
|
NM_001032221.6(STXBP1):c.1277T>G (p.Leu426Arg)
|
rs886039435
|
|
NM_001032221.6(STXBP1):c.1282C>T (p.Gln428Ter)
|
rs2131513223
|
|
NM_001032221.6(STXBP1):c.1316T>A (p.Ile439Asn)
|
|
|
NM_001032221.6(STXBP1):c.1359+5G>C
|
|
|
NM_001032221.6(STXBP1):c.1360-2A>C
|
rs1057522982
|
|
NM_001032221.6(STXBP1):c.1360-2A>T
|
rs1057522982
|
|
NM_001032221.6(STXBP1):c.1390C>G (p.Arg464Gly)
|
|
|
NM_001032221.6(STXBP1):c.1438C>T (p.Pro480Ser)
|
rs1841869298
|
|
NM_001032221.6(STXBP1):c.1457T>G (p.Met486Arg)
|
rs2131522449
|
|
NM_001032221.6(STXBP1):c.1461+1G>A
|
|
|
NM_001032221.6(STXBP1):c.1461+1G>T
|
|
|
NM_001032221.6(STXBP1):c.1473_1475del (p.Glu491del)
|
rs1841944944
|
|
NM_001032221.6(STXBP1):c.1493_1505del (p.His498fs)
|
rs2131528405
|
|
NM_001032221.6(STXBP1):c.1533_1543del (p.Thr512fs)
|
|
|
NM_001032221.6(STXBP1):c.1627G>C (p.Gly543Arg)
|
rs2131535795
|
|
NM_001032221.6(STXBP1):c.1630G>C (p.Gly544Arg)
|
rs1842044505
|
|
NM_001032221.6(STXBP1):c.1642A>G (p.Asn548Asp)
|
rs1057523381
|
|
NM_001032221.6(STXBP1):c.1651C>A (p.Arg551Ser)
|
rs796053373
|
|
NM_001032221.6(STXBP1):c.1652G>T (p.Arg551Leu)
|
rs796053374
|
|
NM_001032221.6(STXBP1):c.1655G>A (p.Cys552Tyr)
|
rs2131536069
|
|
NM_001032221.6(STXBP1):c.1657G>C (p.Ala553Pro)
|
|
|
NM_001032221.6(STXBP1):c.1661A>C (p.Tyr554Ser)
|
|
|
NM_001032221.6(STXBP1):c.1662C>G (p.Tyr554Ter)
|
|
|
NM_001032221.6(STXBP1):c.167C>G (p.Thr56Arg)
|
rs1554776228
|
|
NM_001032221.6(STXBP1):c.1702+1G>A
|
rs796053377
|
|
NM_001032221.6(STXBP1):c.1706C>T (p.Ser569Phe)
|
rs1135401819
|
|
NM_001032221.6(STXBP1):c.218_246+22del
|
rs2132460935
|
|
NM_001032221.6(STXBP1):c.224A>G (p.Tyr75Cys)
|
rs796053352
|
|
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)
|
rs1588302912
|
|
NM_001032221.6(STXBP1):c.246+1G>C
|
rs1840868164
|
|
NM_001032221.6(STXBP1):c.260_261del (p.Leu87fs)
|
|
|
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del)
|
rs1588306876
|
|
NM_001032221.6(STXBP1):c.308A>C (p.His103Pro)
|
rs1588306948
|
|
NM_001032221.6(STXBP1):c.325+2T>A
|
rs1840976417
|
|
NM_001032221.6(STXBP1):c.325+2_325+3del
|
rs1554776853
|
|
NM_001032221.6(STXBP1):c.326-1G>T
|
rs1554776948
|
|
NM_001032221.6(STXBP1):c.328T>C (p.Cys110Arg)
|
rs2131454649
|
|
NM_001032221.6(STXBP1):c.37+2dup
|
rs1838431452
|
|
NM_001032221.6(STXBP1):c.37+3A>C
|
rs796053379
|
|
NM_001032221.6(STXBP1):c.37+3A>T
|
rs796053379
|
|
NM_001032221.6(STXBP1):c.385A>C (p.Thr129Pro)
|
rs1060501724
|
|
NM_001032221.6(STXBP1):c.416C>T (p.Pro139Leu)
|
rs796053353
|
|
NM_001032221.6(STXBP1):c.429+2T>G
|
|
|
NM_001032221.6(STXBP1):c.433T>C (p.Tyr145His)
|
rs587784455
|
|
NM_001032221.6(STXBP1):c.434A>G (p.Tyr145Cys)
|
rs2131462357
|
|
NM_001032221.6(STXBP1):c.451_454del (p.Asp151fs)
|
|
|
NM_001032221.6(STXBP1):c.554A>G (p.Glu185Gly)
|
rs1841140785
|
|
NM_001032221.6(STXBP1):c.560C>T (p.Pro187Leu)
|
rs1841141204
|
|
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)
|
rs796053356
|
|
NM_001032221.6(STXBP1):c.579-1G>A
|
rs1588317190
|
|
NM_001032221.6(STXBP1):c.620A>G (p.Asp207Gly)
|
|
|
NM_001032221.6(STXBP1):c.624del (p.Lys208fs)
|
rs1841237663
|
|
NM_001032221.6(STXBP1):c.660_661del (p.Glu221fs)
|
rs1841239642
|
|
NM_001032221.6(STXBP1):c.690_692dup (p.Leu231dup)
|
rs1841284648
|
|
NM_001032221.6(STXBP1):c.690_697delinsT (p.Leu231fs)
|
|
|
NM_001032221.6(STXBP1):c.701A>G (p.Asp234Gly)
|
|
|
NM_001032221.6(STXBP1):c.703C>G (p.Arg235Gly)
|
rs796053359
|
|
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)
|
rs794727970
|
|
NM_001032221.6(STXBP1):c.734A>G (p.His245Arg)
|
rs587784453
|
|
NM_001032221.6(STXBP1):c.743C>T (p.Thr248Ile)
|
rs1057524795
|
|
NM_001032221.6(STXBP1):c.748C>G (p.Gln250Glu)
|
|
|
NM_001032221.6(STXBP1):c.754A>G (p.Met252Val)
|
|
|
NM_001032221.6(STXBP1):c.784G>T (p.Asp262Tyr)
|
rs1841290957
|
|
NM_001032221.6(STXBP1):c.785A>T (p.Asp262Val)
|
rs2131473052
|
|
NM_001032221.6(STXBP1):c.860T>C (p.Leu287Pro)
|
rs2131481623
|
|
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)
|
rs1588324025
|
|
NM_001032221.6(STXBP1):c.863_865delinsTGG (p.Trp288_Ile289delinsLeuVal)
|
rs2131481685
|
|
NM_001032221.6(STXBP1):c.87+1G>A
|
rs796053350
|
|
NM_001032221.6(STXBP1):c.88G>A (p.Val30Met)
|
rs1840653229
|
|
NM_001032221.6(STXBP1):c.902+4A>G
|
rs1554777733
|
|
NM_001032221.6(STXBP1):c.947_962del (p.Met316fs)
|
|
|
NM_001032221.6(STXBP1):c.98T>A (p.Val33Glu)
|
rs1840653547
|
|
NM_001032221.6(STXBP1):c.993del (p.Lys332fs)
|
rs2131497300
|
|
NM_001032382.2(PQBP1):c.233C>A (p.Pro78Gln)
|
|
|
NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser)
|
rs2063344708
|
|
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)
|
rs606231193
|
|
NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter)
|
rs1602330420
|
|
NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter)
|
rs1557041672
|
|
NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter)
|
rs2063444025
|
|
NM_001032382.2(PQBP1):c.721del (p.Gln241fs)
|
|
|
NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp)
|
rs2063451959
|
|
NM_001032382.2(PQBP1):c.731C>T (p.Pro244Leu)
|
rs878853145
|
|
NM_001035.3(RYR2):c.2236C>T (p.Gln746Ter)
|
rs863223354
|
|
NM_001035.3(RYR2):c.2238A>C (p.Gln746His)
|
rs863223355
|
|
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys)
|
rs786205830
|
|
NM_001037.5(SCN1B):c.449-2A>G
|
rs1600370558
|
|
NM_001037333.3(CYFIP2):c.1404G>C (p.Glu468Asp)
|
rs971284726
|
|
NM_001037333.3(CYFIP2):c.1651G>C (p.Val551Leu)
|
|
|
NM_001037333.3(CYFIP2):c.2066A>G (p.Glu689Gly)
|
rs1761011834
|
|
NM_001037333.3(CYFIP2):c.2086C>A (p.Leu696Met)
|
|
|
NM_001037333.3(CYFIP2):c.2089T>C (p.Cys697Arg)
|
rs2113154685
|
|
NM_001037333.3(CYFIP2):c.2095G>T (p.Asp699Tyr)
|
rs1581069143
|
|
NM_001037333.3(CYFIP2):c.2096A>G (p.Asp699Gly)
|
rs1581069148
|
|
NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser)
|
rs1131692231
|
|
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)
|
rs1131692231
|
|
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro)
|
rs1554108163
|
|
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu)
|
rs1554108163
|
|
NM_001037333.3(CYFIP2):c.887A>T (p.Asp296Val)
|
|
|
NM_001037343.1:c.100-?_744+?dup
|
|
|
NM_001039111.3(TRIM71):c.1886G>A (p.Arg629His)
|
rs1575362239
|
|
NM_001039590.2:c.3466_3879del
|
|
|
NM_001039591.3(USP9X):c.1315-4A>G
|
rs1057522024
|
|
NM_001039591.3(USP9X):c.1511C>T (p.Ala504Val)
|
|
|
NM_001039591.3(USP9X):c.2602del (p.Tyr868fs)
|
rs2147118205
|
|
NM_001039591.3(USP9X):c.2877+2T>C
|
rs2147123290
|
|
NM_001039591.3(USP9X):c.323-1G>C
|
rs5918118
|
|
NM_001039591.3(USP9X):c.3559-1G>C
|
rs2147163808
|
|
NM_001039591.3(USP9X):c.3905C>T (p.Ala1302Val)
|
rs2147171235
|
|
NM_001039591.3(USP9X):c.5047C>T (p.Gln1683Ter)
|
rs1555932766
|
|
NM_001039591.3(USP9X):c.5186A>G (p.His1729Arg)
|
rs2147230302
|
|
NM_001039591.3(USP9X):c.5198G>A (p.Cys1733Tyr)
|
|
|
NM_001039591.3(USP9X):c.5636ATT[2] (p.Tyr1881del)
|
|
|
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile)
|
rs2147245804
|
|
NM_001039591.3(USP9X):c.6254G>A (p.Arg2085His)
|
rs2147251154
|
|
NM_001039591.3(USP9X):c.671T>C (p.Leu224Pro)
|
|
|
NM_001040025.3(ARL16):c.-41G>T
|
rs863223352
|
|
NM_001040142.2(SCN2A):c.1035-7A>G
|
rs558800241
|
|
NM_001040142.2(SCN2A):c.1058G>C (p.Cys353Ser)
|
rs1697566111
|
|
NM_001040142.2(SCN2A):c.1120T>C (p.Phe374Leu)
|
rs1697569337
|
|
NM_001040142.2(SCN2A):c.1135C>T (p.Arg379Cys)
|
|
|
NM_001040142.2(SCN2A):c.1136G>A (p.Arg379His)
|
rs2105255398
|
|
NM_001040142.2(SCN2A):c.1148A>T (p.Gln383Leu)
|
rs2105255430
|
|
NM_001040142.2(SCN2A):c.1199C>G (p.Thr400Arg)
|
|
|
NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys)
|
rs747086776
|
|
NM_001040142.2(SCN2A):c.1255T>A (p.Leu419Met)
|
rs1697584614
|
|
NM_001040142.2(SCN2A):c.1271T>C (p.Val424Ala)
|
rs796053181
|
|
NM_001040142.2(SCN2A):c.1283A>T (p.Tyr428Phe)
|
rs796053182
|
|
NM_001040142.2(SCN2A):c.1289A>G (p.Glu430Gly)
|
rs796053183
|
|
NM_001040142.2(SCN2A):c.1384-2A>G
|
rs1574571769
|
|
NM_001040142.2(SCN2A):c.1563_1564del (p.Asp521fs)
|
rs1553569739
|
|
NM_001040142.2(SCN2A):c.1570C>T (p.Arg524Ter)
|
rs1553569754
|
|
NM_001040142.2(SCN2A):c.1635del (p.Arg545fs)
|
|
|
NM_001040142.2(SCN2A):c.1672-2A>G
|
|
|
NM_001040142.2(SCN2A):c.1871dup (p.Asn624fs)
|
|
|
NM_001040142.2(SCN2A):c.1912del (p.Leu638fs)
|
|
|
NM_001040142.2(SCN2A):c.1A>T (p.Met1Leu)
|
rs1553564139
|
|
NM_001040142.2(SCN2A):c.2187G>A (p.Trp729Ter)
|
|
|
NM_001040142.2(SCN2A):c.2287del (p.Leu763fs)
|
|
|
NM_001040142.2(SCN2A):c.2305A>G (p.Ile769Val)
|
rs1698670041
|
|
NM_001040142.2(SCN2A):c.2380G>A (p.Gly794Arg)
|
|
|
NM_001040142.2(SCN2A):c.2501G>A (p.Ser834Asn)
|
rs1699364791
|
|
NM_001040142.2(SCN2A):c.2528T>A (p.Val843Glu)
|
rs1574636716
|
|
NM_001040142.2(SCN2A):c.2538G>T (p.Leu846Phe)
|
rs1699366355
|
|
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln)
|
rs794727152
|
|
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter)
|
rs1553579225
|
|
NM_001040142.2(SCN2A):c.2620A>G (p.Ile874Val)
|
rs1699475919
|
|
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr)
|
rs1574641522
|
|
NM_001040142.2(SCN2A):c.2638G>T (p.Ala880Ser)
|
rs1574641522
|
|
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu)
|
rs1574641605
|
|
NM_001040142.2(SCN2A):c.2674G>A (p.Val892Ile)
|
rs121917751
|
|
NM_001040142.2(SCN2A):c.2674G>T (p.Val892Phe)
|
|
|
NM_001040142.2(SCN2A):c.2680_2686delinsCTTTTTT (p.Ile894_Ala896delinsLeuPheSer)
|
rs2105318837
|
|
NM_001040142.2(SCN2A):c.2696G>A (p.Gly899Asp)
|
rs796053121
|
|
NM_001040142.2(SCN2A):c.2715G>T (p.Lys905Asn)
|
|
|
NM_001040142.2(SCN2A):c.2765G>A (p.Arg922His)
|
rs1057518048
|
|
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr)
|
rs1057518373
|
|
NM_001040142.2(SCN2A):c.2810G>A (p.Arg937His)
|
rs1553579488
|
|
NM_001040142.2(SCN2A):c.2815C>G (p.Leu939Val)
|
|
|
NM_001040142.2(SCN2A):c.2872A>G (p.Met958Val)
|
rs2105319172
|
|
NM_001040142.2(SCN2A):c.2893_2901del (p.Met965_Met967del)
|
rs2105319200
|
|
NM_001040142.2(SCN2A):c.2896G>C (p.Val966Leu)
|
|
|
NM_001040142.2(SCN2A):c.2916_2917delinsTT (p.Val973Leu)
|
rs2105319230
|
|
NM_001040142.2(SCN2A):c.2926A>C (p.Asn976His)
|
|
|
NM_001040142.2(SCN2A):c.2934C>A (p.Phe978Leu)
|
|
|
NM_001040142.2(SCN2A):c.2936T>G (p.Leu979Trp)
|
rs1553583544
|
|
NM_001040142.2(SCN2A):c.2950A>G (p.Ser984Gly)
|
rs1700069881
|
|
NM_001040142.2(SCN2A):c.2959A>T (p.Ser987Cys)
|
rs2105336842
|
|
NM_001040142.2(SCN2A):c.2960G>T (p.Ser987Ile)
|
rs796053124
|
|
NM_001040142.2(SCN2A):c.2983GAT[2] (p.Asp997del)
|
rs1700070748
|
|
NM_001040142.2(SCN2A):c.2986G>A (p.Asp996Asn)
|
rs2105336868
|
|
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys)
|
rs796053126
|
|
NM_001040142.2(SCN2A):c.3423_3424delinsCT (p.Glu1142Ter)
|
|
|
NM_001040142.2(SCN2A):c.3520+1G>T
|
|
|
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)
|
rs387906684
|
|
NM_001040142.2(SCN2A):c.3634A>C (p.Thr1212Pro)
|
rs1700783234
|
|
NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg)
|
rs1574697769
|
|
NM_001040142.2(SCN2A):c.3823T>C (p.Cys1275Arg)
|
rs2105365343
|
|
NM_001040142.2(SCN2A):c.3839T>C (p.Leu1280Pro)
|
|
|
NM_001040142.2(SCN2A):c.3928G>C (p.Ala1310Pro)
|
rs1701139863
|
|
NM_001040142.2(SCN2A):c.3935G>C (p.Arg1312Thr)
|
|
|
NM_001040142.2(SCN2A):c.3945A>T (p.Arg1315Ser)
|
|
|
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp)
|
rs190111194
|
|
NM_001040142.2(SCN2A):c.3956G>A (p.Arg1319Gln)
|
|
|
NM_001040142.2(SCN2A):c.3956G>C (p.Arg1319Pro)
|
|
|
NM_001040142.2(SCN2A):c.3961G>C (p.Glu1321Gln)
|
|
|
NM_001040142.2(SCN2A):c.3972G>A (p.Arg1324=)
|
rs1057518117
|
|
NM_001040142.2(SCN2A):c.3973-2A>G
|
rs1701219319
|
|
NM_001040142.2(SCN2A):c.3986C>G (p.Ala1329Gly)
|
rs1553593578
|
|
NM_001040142.2(SCN2A):c.3988C>T (p.Leu1330Phe)
|
rs121917749
|
|
NM_001040142.2(SCN2A):c.4012A>G (p.Met1338Val)
|
|
|
NM_001040142.2(SCN2A):c.4018G>A (p.Val1340Ile)
|
rs2105373034
|
|
NM_001040142.2(SCN2A):c.4037T>A (p.Ile1346Asn)
|
rs1483179196
|
|
NM_001040142.2(SCN2A):c.4069A>T (p.Asn1357Tyr)
|
rs2105373101
|
|
NM_001040142.2(SCN2A):c.4082G>A (p.Gly1361Asp)
|
rs1701224556
|
|
NM_001040142.2(SCN2A):c.4123T>G (p.Phe1375Val)
|
rs1308555812
|
|
NM_001040142.2(SCN2A):c.4223T>C (p.Val1408Ala)
|
rs1574716488
|
|
NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile)
|
rs1574716524
|
|
NM_001040142.2(SCN2A):c.4255-6T>A
|
rs1701381827
|
|
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)
|
rs796053138
|
|
NM_001040142.2(SCN2A):c.4309-2A>G
|
|
|
NM_001040142.2(SCN2A):c.4391C>T (p.Thr1464Ile)
|
rs1701553334
|
|
NM_001040142.2(SCN2A):c.4418T>C (p.Ile1473Thr)
|
rs1085307898
|
|
NM_001040142.2(SCN2A):c.4426T>A (p.Phe1476Ile)
|
|
|
NM_001040142.2(SCN2A):c.4434A>C (p.Gln1478His)
|
|
|
NM_001040142.2(SCN2A):c.4435C>A (p.Gln1479Lys)
|
rs1553462134
|
|
NM_001040142.2(SCN2A):c.4437G>C (p.Gln1479His)
|
rs2105384764
|
|
NM_001040142.2(SCN2A):c.4439A>G (p.Lys1480Arg)
|
rs1574731380
|
|
NM_001040142.2(SCN2A):c.4451G>A (p.Gly1484Glu)
|
rs2105385669
|
|
NM_001040142.2(SCN2A):c.4462A>G (p.Ile1488Val)
|
rs2105385694
|
|
NM_001040142.2(SCN2A):c.4466T>G (p.Phe1489Cys)
|
rs1701579531
|
|
NM_001040142.2(SCN2A):c.4470G>C (p.Met1490Ile)
|
|
|
NM_001040142.2(SCN2A):c.4493A>C (p.Tyr1498Ser)
|
rs1558879863
|
|
NM_001040142.2(SCN2A):c.4494C>G (p.Tyr1498Ter)
|
|
|
NM_001040142.2(SCN2A):c.4499C>T (p.Ala1500Val)
|
|
|
NM_001040142.2(SCN2A):c.4501A>G (p.Met1501Val)
|
rs2105385817
|
|
NM_001040142.2(SCN2A):c.4503G>A (p.Met1501Ile)
|
|
|
NM_001040142.2(SCN2A):c.4514del (p.Gly1505fs)
|
rs1701581960
|
|
NM_001040142.2(SCN2A):c.4551+5G>A
|
|
|
NM_001040142.2(SCN2A):c.4552-2A>G
|
|
|
NM_001040142.2(SCN2A):c.4579_4602del (p.Phe1527_Asp1534del)
|
rs2105398203
|
|
NM_001040142.2(SCN2A):c.4596del (p.Phe1533fs)
|
|
|
NM_001040142.2(SCN2A):c.4614G>T (p.Met1538Ile)
|
rs1553463042
|
|
NM_001040142.2(SCN2A):c.4622T>A (p.Ile1541Asn)
|
|
|
NM_001040142.2(SCN2A):c.4635G>C (p.Met1545Ile)
|
rs1574746733
|
|
NM_001040142.2(SCN2A):c.4635G>T (p.Met1545Ile)
|
rs1574746733
|
|
NM_001040142.2(SCN2A):c.4643T>C (p.Met1548Thr)
|
rs1057519524
|
|
NM_001040142.2(SCN2A):c.4644G>C (p.Met1548Ile)
|
rs1574746759
|
|
NM_001040142.2(SCN2A):c.4652A>C (p.Glu1551Ala)
|
|
|
NM_001040142.2(SCN2A):c.4688T>G (p.Leu1563Arg)
|
rs1574746935
|
|
NM_001040142.2(SCN2A):c.4766A>G (p.Tyr1589Cys)
|
rs1553463119
|
|
NM_001040142.2(SCN2A):c.4801G>A (p.Val1601Met)
|
rs1553463140
|
|
NM_001040142.2(SCN2A):c.4822+1G>A
|
|
|
NM_001040142.2(SCN2A):c.4841T>C (p.Leu1614Pro)
|
rs797045943
|
|
NM_001040142.2(SCN2A):c.4880T>C (p.Val1627Ala)
|
rs1702003246
|
|
NM_001040142.2(SCN2A):c.4885C>T (p.Arg1629Cys)
|
rs1702003567
|
|
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
|
|
|
NM_001040142.2(SCN2A):c.4895G>T (p.Arg1632Met)
|
rs796053158
|
|
NM_001040142.2(SCN2A):c.4907T>A (p.Ile1636Asn)
|
|
|
NM_001040142.2(SCN2A):c.4908C>G (p.Ile1636Met)
|
rs796053160
|
|
NM_001040142.2(SCN2A):c.4918A>C (p.Ile1640Leu)
|
|
|
NM_001040142.2(SCN2A):c.4918A>T (p.Ile1640Phe)
|
rs1702006673
|
|
NM_001040142.2(SCN2A):c.4946T>C (p.Leu1649Pro)
|
rs1702008208
|
|
NM_001040142.2(SCN2A):c.4959G>C (p.Leu1653Phe)
|
rs1702008760
|
|
NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val)
|
rs1060503101
|
|
NM_001040142.2(SCN2A):c.4988T>C (p.Ile1663Thr)
|
rs2105402379
|
|
NM_001040142.2(SCN2A):c.4989del (p.Ile1663fs)
|
rs1702009872
|
|
NM_001040142.2(SCN2A):c.5017A>T (p.Ile1673Phe)
|
|
|
NM_001040142.2(SCN2A):c.5117G>C (p.Cys1706Ser)
|
rs1553463513
|
|
NM_001040142.2(SCN2A):c.5131A>G (p.Thr1711Ala)
|
|
|
NM_001040142.2(SCN2A):c.5231G>A (p.Gly1744Glu)
|
|
|
NM_001040142.2(SCN2A):c.5306A>G (p.Asn1769Ser)
|
|
|
NM_001040142.2(SCN2A):c.5311T>A (p.Tyr1771Asn)
|
|
|
NM_001040142.2(SCN2A):c.5317G>A (p.Ala1773Thr)
|
rs796053162
|
|
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val)
|
rs1553463602
|
|
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile)
|
rs1574752700
|
|
NM_001040142.2(SCN2A):c.5408A>G (p.Glu1803Gly)
|
|
|
NM_001040142.2(SCN2A):c.5408A>T (p.Glu1803Val)
|
|
|
NM_001040142.2(SCN2A):c.5433G>C (p.Gln1811His)
|
|
|
NM_001040142.2(SCN2A):c.5551C>T (p.Arg1851Trp)
|
rs1553463718
|
|
NM_001040142.2(SCN2A):c.5616G>C (p.Met1872Ile)
|
|
|
NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)
|
rs2105403536
|
|
NM_001040142.2(SCN2A):c.5637G>A (p.Met1879Ile)
|
|
|
NM_001040142.2(SCN2A):c.5638G>A (p.Glu1880Lys)
|
rs1553463772
|
|
NM_001040142.2(SCN2A):c.5660A>C (p.Asn1887Thr)
|
rs2105403619
|
|
NM_001040142.2(SCN2A):c.5670A>C (p.Lys1890Asn)
|
rs1702039582
|
|
NM_001040142.2(SCN2A):c.571T>G (p.Trp191Gly)
|
rs1057519525
|
|
NM_001040142.2(SCN2A):c.586T>G (p.Phe196Val)
|
rs2105243497
|
|
NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg)
|
rs1574754680
|
|
NM_001040142.2(SCN2A):c.605C>T (p.Ala202Val)
|
|
|
NM_001040142.2(SCN2A):c.620T>C (p.Phe207Ser)
|
rs1064796691
|
|
NM_001040142.2(SCN2A):c.629T>A (p.Leu210Gln)
|
rs1559352517
|
|
NM_001040142.2(SCN2A):c.635A>G (p.Asn212Ser)
|
rs2105244912
|
|
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala)
|
rs1574556643
|
|
NM_001040142.2(SCN2A):c.647T>C (p.Leu216Ser)
|
|
|
NM_001040142.2(SCN2A):c.664C>A (p.Leu222Ile)
|
rs2105245017
|
|
NM_001040142.2(SCN2A):c.668G>A (p.Arg223Gln)
|
rs121917752
|
|
NM_001040142.2(SCN2A):c.685T>A (p.Ser229Thr)
|
rs1553567561
|
|
NM_001040142.2(SCN2A):c.685T>G (p.Ser229Ala)
|
rs1553567561
|
|
NM_001040142.2(SCN2A):c.710T>C (p.Ile237Thr)
|
|
|
NM_001040142.2(SCN2A):c.718G>A (p.Ala240Thr)
|
rs1064795014
|
|
NM_001040142.2(SCN2A):c.719C>T (p.Ala240Val)
|
rs1553567864
|
|
NM_001040142.2(SCN2A):c.722T>G (p.Leu241Arg)
|
|
|
NM_001040142.2(SCN2A):c.751G>A (p.Val251Ile)
|
rs1057519528
|
|
NM_001040142.2(SCN2A):c.751G>T (p.Val251Phe)
|
|
|
NM_001040142.2(SCN2A):c.785T>C (p.Phe262Ser)
|
rs1697364805
|
|
NM_001040142.2(SCN2A):c.788C>A (p.Ala263Glu)
|
rs387906686
|
|
NM_001040142.2(SCN2A):c.788C>G (p.Ala263Gly)
|
|
|
NM_001040142.2(SCN2A):c.819C>A (p.Asn273Lys)
|
|
|
NM_001040142.2(SCN2A):c.83G>A (p.Arg28His)
|
|
|
NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter)
|
|
|
NM_001040142.2(SCN2A):c.971-1G>A
|
rs2105251415
|
|
NM_001040616.3(LINS1):c.1222+2T>C
|
|
|
NM_001040616.3(LINS1):c.1424_1425del (p.Gln475fs)
|
rs2141262985
|
|
NM_001040616.3(LINS1):c.1605G>A (p.Trp535Ter)
|
|
|
NM_001040616.3(LINS1):c.1727_1736del (p.Arg576fs)
|
rs2141261531
|
|
NM_001040616.3(LINS1):c.1921_1923delinsAC (p.Glu641fs)
|
|
|
NM_001040616.3(LINS1):c.2270T>A (p.Leu757Ter)
|
rs1383641417
|
|
NM_001040616.3(LINS1):c.431del (p.Leu144fs)
|
rs764442764
|
|
NM_001040616.3(LINS1):c.557_558del (p.Lys186fs)
|
rs747412555
|
|
NM_001040616.3(LINS1):c.597del (p.Glu200fs)
|
rs1198074890
|
|
NM_001040616.3(LINS1):c.631+1G>A
|
|
|
NM_001040616.3(LINS1):c.717C>A (p.Cys239Ter)
|
rs1596891223
|
|
NM_001040616.3(LINS1):c.937G>A (p.Glu313Lys)
|
rs1057519019
|
|
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
|
rs386833694
|
|
NM_001042432.2(CLN3):c.1038G>A (p.Trp346Ter)
|
|
|
NM_001042432.2(CLN3):c.1048del (p.Leu350fs)
|
rs386833696
|
|
NM_001042432.2(CLN3):c.1050_1056+19del
|
|
|
NM_001042432.2(CLN3):c.1055dup (p.Cys353fs)
|
|
|
NM_001042432.2(CLN3):c.1056+1G>A
|
|
|
NM_001042432.2(CLN3):c.1056+1G>T
|
rs1217725909
|
|
NM_001042432.2(CLN3):c.1056+3A>C
|
rs386833698
|
|
NM_001042432.2(CLN3):c.1056G>C (p.Gln352His)
|
rs386833699
|
|
NM_001042432.2(CLN3):c.1056G>T (p.Gln352His)
|
rs386833699
|
|
NM_001042432.2(CLN3):c.1057-1G>A
|
|
|
NM_001042432.2(CLN3):c.1057-2A>G
|
rs1218568487
|
|
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter)
|
rs1057516677
|
|
NM_001042432.2(CLN3):c.105G>A (p.Trp35Ter)
|
rs386833700
|
|
NM_001042432.2(CLN3):c.1067dup (p.Val357fs)
|
rs1555467473
|
|
NM_001042432.2(CLN3):c.1075del (p.Leu359fs)
|
rs2046023126
|
|
NM_001042432.2(CLN3):c.1115_1118dup (p.Val374fs)
|
|
|
NM_001042432.2(CLN3):c.1116C>G (p.Tyr372Ter)
|
rs142456044
|
|
NM_001042432.2(CLN3):c.1127del (p.Leu376fs)
|
rs2046022108
|
|
NM_001042432.2(CLN3):c.1195G>T (p.Glu399Ter)
|
rs386833701
|
|
NM_001042432.2(CLN3):c.1197+1G>A
|
|
|
NM_001042432.2(CLN3):c.125+1del
|
rs1555469452
|
|
NM_001042432.2(CLN3):c.125+2T>C
|
|
|
NM_001042432.2(CLN3):c.126-1G>A
|
rs386833705
|
|
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter)
|
rs386833706
|
|
NM_001042432.2(CLN3):c.126G>A (p.Trp42Ter)
|
|
|
NM_001042432.2(CLN3):c.1272del (p.Leu425fs)
|
rs386833707
|
|
NM_001042432.2(CLN3):c.18del (p.Ser7fs)
|
|
|
NM_001042432.2(CLN3):c.195dup (p.Lys66fs)
|
rs1555469159
|
|
NM_001042432.2(CLN3):c.1A>C (p.Met1Leu)
|
rs386833708
|
|
NM_001042432.2(CLN3):c.222+1G>A
|
|
|
NM_001042432.2(CLN3):c.222+2T>G
|
rs386833710
|
|
NM_001042432.2(CLN3):c.222+5G>C
|
rs386833711
|
|
NM_001042432.2(CLN3):c.223-1G>A
|
rs1555469089
|
|
NM_001042432.2(CLN3):c.233dup (p.Thr80fs)
|
rs386833712
|
|
NM_001042432.2(CLN3):c.240del (p.Pro81fs)
|
rs748710466
|
|
NM_001042432.2(CLN3):c.250del (p.His84fs)
|
|
|
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)
|
rs386833713
|
|
NM_001042432.2(CLN3):c.276C>A (p.Cys92Ter)
|
|
|
NM_001042432.2(CLN3):c.281_282del (p.Ser94fs)
|
rs1057517215
|
|
NM_001042432.2(CLN3):c.2T>C (p.Met1Thr)
|
rs777625354
|
|
NM_001042432.2(CLN3):c.302T>C (p.Leu101Pro)
|
rs386833714
|
|
NM_001042432.2(CLN3):c.363dup (p.Leu122fs)
|
|
|
NM_001042432.2(CLN3):c.370dup (p.Tyr124fs)
|
rs386833715
|
|
NM_001042432.2(CLN3):c.372C>G (p.Tyr124Ter)
|
|
|
NM_001042432.2(CLN3):c.373del (p.Ser125fs)
|
rs1596563048
|
|
NM_001042432.2(CLN3):c.374+1G>A
|
rs2046243804
|
|
NM_001042432.2(CLN3):c.374G>A (p.Ser125Asn)
|
rs386833716
|
|
NM_001042432.2(CLN3):c.375-2A>T
|
rs2046240661
|
|
NM_001042432.2(CLN3):c.375-2del
|
|
|
NM_001042432.2(CLN3):c.378_379dup (p.Arg127fs)
|
rs386833717
|
|
NM_001042432.2(CLN3):c.379del (p.Arg127fs)
|
rs386833717
|
|
NM_001042432.2(CLN3):c.379dup (p.Arg127fs)
|
|
|
NM_001042432.2(CLN3):c.400T>C (p.Cys134Arg)
|
rs386833719
|
|
NM_001042432.2(CLN3):c.419del (p.Val140fs)
|
|
|
NM_001042432.2(CLN3):c.424del (p.Val142fs)
|
rs386833720
|
|
NM_001042432.2(CLN3):c.46+1G>A
|
rs1057516343
|
|
NM_001042432.2(CLN3):c.46+1G>C
|
rs1057516343
|
|
NM_001042432.2(CLN3):c.460+1G>A
|
rs1397086223
|
|
NM_001042432.2(CLN3):c.460+2T>G
|
|
|
NM_001042432.2(CLN3):c.461-13G>C
|
rs386833721
|
|
NM_001042432.2(CLN3):c.461-1G>A
|
rs386833722
|
|
NM_001042432.2(CLN3):c.461-1G>C
|
rs386833722
|
|
NM_001042432.2(CLN3):c.461-3C>G
|
rs181995380
|
|
NM_001042432.2(CLN3):c.467del (p.Val156fs)
|
|
|
NM_001042432.2(CLN3):c.47-2A>T
|
|
|
NM_001042432.2(CLN3):c.47-2del
|
|
|
NM_001042432.2(CLN3):c.482C>G (p.Ser161Ter)
|
rs386833724
|
|
NM_001042432.2(CLN3):c.485C>G (p.Ser162Ter)
|
rs386833725
|
|
NM_001042432.2(CLN3):c.49G>T (p.Glu17Ter)
|
rs386833726
|
|
NM_001042432.2(CLN3):c.500T>A (p.Val167Asp)
|
rs1418465028
|
|
NM_001042432.2(CLN3):c.509T>C (p.Leu170Pro)
|
rs386833727
|
|
NM_001042432.2(CLN3):c.512C>T (p.Ser171Phe)
|
rs1401497994
|
|
NM_001042432.2(CLN3):c.528C>A (p.Tyr176Ter)
|
|
|
NM_001042432.2(CLN3):c.533+1G>A
|
rs386833728
|
|
NM_001042432.2(CLN3):c.533+1G>C
|
rs386833728
|
|
NM_001042432.2(CLN3):c.534-1G>C
|
|
|
NM_001042432.2(CLN3):c.534-2A>G
|
rs2046221354
|
|
NM_001042432.2(CLN3):c.551G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.552G>A (p.Trp184Ter)
|
|
|
NM_001042432.2(CLN3):c.555del (p.Ser186fs)
|
|
|
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)
|
rs386833729
|
|
NM_001042432.2(CLN3):c.560G>C (p.Gly187Ala)
|
rs386833730
|
|
NM_001042432.2(CLN3):c.565G>C (p.Gly189Arg)
|
rs386833731
|
|
NM_001042432.2(CLN3):c.569del (p.Gly190fs)
|
rs386833732
|
|
NM_001042432.2(CLN3):c.575G>A (p.Gly192Glu)
|
rs386833733
|
|
NM_001042432.2(CLN3):c.582G>T (p.Leu194=)
|
rs386833734
|
|
NM_001042432.2(CLN3):c.586dup (p.Ala196fs)
|
rs386833735
|
|
NM_001042432.2(CLN3):c.597C>A (p.Tyr199Ter)
|
rs267606737
|
|
NM_001042432.2(CLN3):c.610C>T (p.Gln204Ter)
|
|
|
NM_001042432.2(CLN3):c.631C>T (p.Gln211Ter)
|
rs386833737
|
|
NM_001042432.2(CLN3):c.639del (p.Leu214fs)
|
rs2046218391
|
|
NM_001042432.2(CLN3):c.677+1G>T
|
rs1057517287
|
|
NM_001042432.2(CLN3):c.678-1_680del
|
|
|
NM_001042432.2(CLN3):c.683dup (p.Leu230fs)
|
rs1057516335
|
|
NM_001042432.2(CLN3):c.751C>T (p.Gln251Ter)
|
rs2046158549
|
|
NM_001042432.2(CLN3):c.790+1G>A
|
|
|
NM_001042432.2(CLN3):c.790+1G>T
|
|
|
NM_001042432.2(CLN3):c.790+1del
|
rs1555468374
|
|
NM_001042432.2(CLN3):c.790+2T>C
|
rs1397197980
|
|
NM_001042432.2(CLN3):c.790+3A>C
|
rs386833738
|
|
NM_001042432.2(CLN3):c.791-1G>A
|
rs1057517350
|
|
NM_001042432.2(CLN3):c.791-2A>G
|
|
|
NM_001042432.2(CLN3):c.837+1G>T
|
|
|
NM_001042432.2(CLN3):c.838-3C>G
|
|
|
NM_001042432.2(CLN3):c.849G>A (p.Trp283Ter)
|
|
|
NM_001042432.2(CLN3):c.849del (p.Trp283fs)
|
|
|
NM_001042432.2(CLN3):c.852C>G (p.Tyr284Ter)
|
|
|
NM_001042432.2(CLN3):c.883G>T (p.Glu295Ter)
|
rs121434286
|
|
NM_001042432.2(CLN3):c.906+2T>G
|
rs771788391
|
|
NM_001042432.2(CLN3):c.906+5G>A
|
rs386833739
|
|
NM_001042432.2(CLN3):c.907-2A>G
|
rs2141703433
|
|
NM_001042432.2(CLN3):c.910G>T (p.Glu304Ter)
|
|
|
NM_001042432.2(CLN3):c.937del (p.Ser312_Leu313insTer)
|
|
|
NM_001042432.2(CLN3):c.944dup (p.His315fs)
|
rs386833740
|
|
NM_001042432.2(CLN3):c.954_962+18del
|
rs386833741
|
|
NM_001042432.2(CLN3):c.962+1G>A
|
rs1057516267
|
|
NM_001042432.2(CLN3):c.962G>A (p.Trp321Ter)
|
rs2046112247
|
|
NM_001042432.2(CLN3):c.963-1G>T
|
rs386833742
|
|
NM_001042432.2(CLN3):c.963-2A>C
|
rs1418997146
|
|
NM_001042432.2(CLN3):c.963-2A>G
|
rs1418997146
|
|
NM_001042432.2(CLN3):c.979C>T (p.Gln327Ter)
|
rs386833743
|
|
NM_001042432.2(CLN3):c.988G>T (p.Val330Phe)
|
rs386833744
|
|
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)
|
rs2046109345
|
|
NM_001042492.3(NF1):c.1721+21dup
|
rs762735676
|
|
NM_001042603.3(KDM5A):c.1A>T (p.Met1Leu)
|
|
|
NM_001042603.3(KDM5A):c.4283G>T (p.Arg1428Leu)
|
|
|
NM_001042646.3(TRAK1):c.1759dup (p.His587fs)
|
rs1559390743
|
|
NM_001042646.3(TRAK1):c.994A>G (p.Lys332Glu)
|
rs2149441749
|
|
NM_001042681.2(RERE):c.2278C>T (p.Gln760Ter)
|
rs1641565884
|
|
NM_001044.5(SLC6A3):c.1031+1G>A
|
rs431905514
|
|
NM_001044.5(SLC6A3):c.1156G>A (p.Gly386Arg)
|
|
|
NM_001044.5(SLC6A3):c.1398+5G>A
|
rs1756068240
|
|
NM_001044.5(SLC6A3):c.1767+2T>C
|
rs2126324037
|
|
NM_001044.5(SLC6A3):c.178C>T (p.Arg60Trp)
|
rs1579729357
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
NM_001044385.3(TMEM237):c.137-2A>G
|
|
|
NM_001044385.3(TMEM237):c.396-2A>G
|
|
|
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter)
|
rs972221242
|
|
NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter)
|
rs2105899200
|
|
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly)
|
rs2105899169
|
|
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
|
|
|
NM_001044385.3(TMEM237):c.80-2A>G
|
rs1445957469
|
|
NM_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
NM_001045.6(SLC6A4):c.1745dup (p.Thr583fs)
|
rs2143013401
|
|
NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe)
|
rs797046074
|
|
NM_001069.3(TUBB2A):c.1072C>A (p.Pro358Thr)
|
rs2113785077
|
|
NM_001069.3(TUBB2A):c.1073C>T (p.Pro358Leu)
|
rs1762593142
|
|
NM_001069.3(TUBB2A):c.1163T>C (p.Met388Thr)
|
rs1554122911
|
|
NM_001069.3(TUBB2A):c.1171C>T (p.Arg391Cys)
|
rs1554122907
|
|
NM_001069.3(TUBB2A):c.1172G>A (p.Arg391His)
|
rs1057521250
|
|
NM_001069.3(TUBB2A):c.1178C>T (p.Ala393Val)
|
rs1581496351
|
|
NM_001069.3(TUBB2A):c.148T>C (p.Tyr50His)
|
rs1762626709
|
|
NM_001069.3(TUBB2A):c.292G>A (p.Gly98Arg)
|
rs1064795334
|
|
NM_001069.3(TUBB2A):c.292G>C (p.Gly98Arg)
|
rs1064795334
|
|
NM_001069.3(TUBB2A):c.394G>A (p.Gly132Ser)
|
rs1064795249
|
|
NM_001069.3(TUBB2A):c.580G>A (p.Glu194Lys)
|
rs1554122959
|
|
NM_001069.3(TUBB2A):c.5G>A (p.Arg2His)
|
rs1581499166
|
|
NM_001069.3(TUBB2A):c.689C>T (p.Ser230Leu)
|
|
|
NM_001069.3(TUBB2A):c.872A>C (p.Gln291Pro)
|
rs863224939
|
|
NM_001069.3(TUBB2A):c.875A>G (p.Gln292Arg)
|
|
|
NM_001069.3(TUBB2A):c.967A>C (p.Met323Leu)
|
rs2113785156
|
|
NM_001070.5(TUBG1):c.421A>C (p.Ile141Leu)
|
|
|
NM_001070.5(TUBG1):c.725C>T (p.Thr242Ile)
|
|
|
NM_001070.5(TUBG1):c.821C>A (p.Thr274Asn)
|
rs1803693
|
|
NM_001077350.3(NPRL3):c.1031+2_1031+3del
|
rs2141909104
|
|
NM_001077350.3(NPRL3):c.1161+1G>A
|
|
|
NM_001077350.3(NPRL3):c.118+1G>A
|
|
|
NM_001077350.3(NPRL3):c.1184_1188del (p.Val395fs)
|
|
|
NM_001077350.3(NPRL3):c.119-1G>C
|
rs2141981312
|
|
NM_001077350.3(NPRL3):c.119-2A>G
|
rs1361784389
|
|
NM_001077350.3(NPRL3):c.1217_1351+24delinsC
|
rs2141901872
|
|
NM_001077350.3(NPRL3):c.1287del (p.Phe430fs)
|
rs1288771812
|
|
NM_001077350.3(NPRL3):c.1352-10_1368del
|
|
|
NM_001077350.3(NPRL3):c.1544+1del
|
rs1898611246
|
|
NM_001077350.3(NPRL3):c.1559dup (p.Arg521fs)
|
rs2141895084
|
|
NM_001077350.3(NPRL3):c.274C>T (p.Arg92Ter)
|
rs1199226176
|
|
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter)
|
rs1596528731
|
|
NM_001077350.3(NPRL3):c.319-1G>A
|
|
|
NM_001077350.3(NPRL3):c.423_426del (p.Leu142fs)
|
rs1567139896
|
|
NM_001077350.3(NPRL3):c.434T>C (p.Leu145Pro)
|
rs1899872500
|
|
NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter)
|
rs1596522356
|
|
NM_001077350.3(NPRL3):c.547+1G>A
|
rs1899864955
|
|
NM_001077350.3(NPRL3):c.547+1G>C
|
rs1899864955
|
|
NM_001077350.3(NPRL3):c.547+2T>A
|
|
|
NM_001077350.3(NPRL3):c.563dup (p.Ser189fs)
|
|
|
NM_001077350.3(NPRL3):c.591_629+634del
|
rs1899713412
|
|
NM_001077350.3(NPRL3):c.629+1G>A
|
rs2141946055
|
|
NM_001077350.3(NPRL3):c.629+1G>T
|
rs2141946055
|
|
NM_001077350.3(NPRL3):c.630-1G>A
|
rs1899235603
|
|
NM_001077350.3(NPRL3):c.736_737insTTTC (p.Glu246fs)
|
|
|
NM_001077350.3(NPRL3):c.768-1G>A
|
|
|
NM_001077350.3(NPRL3):c.898C>T (p.Gln300Ter)
|
rs746975723
|
|
NM_001077350.3(NPRL3):c.925-1G>C
|
rs1898844907
|
|
NM_001077350.3(NPRL3):c.925-2A>G
|
rs1431914212
|
|
NM_001077350.3(NPRL3):c.925-2A>T
|
rs1431914212
|
|
NM_001077350.3(NPRL3):c.980C>T (p.Pro327Leu)
|
rs1898841618
|
|
NM_001077350.3:c.(767+1_768-1)_(924+1_925-1)del
|
|
|
NM_001077418.3(TMEM231):c.140-30A>C
|
rs2080806593
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
NM_001077418.3(TMEM231):c.279dup (p.Gly94fs)
|
|
|
NM_001077418.3(TMEM231):c.438+1G>C
|
rs1415483600
|
|
NM_001077418.3(TMEM231):c.439-33_538del
|
|
|
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro)
|
rs397514754
|
|
NM_001079872.2(CUL4B):c.1396C>T (p.Arg466Ter)
|
rs905353542
|
|
NM_001079872.2(CUL4B):c.1423del (p.Gln475fs)
|
|
|
NM_001079872.2(CUL4B):c.1428G>A (p.Trp476Ter)
|
rs1924000101
|
|
NM_001079872.2(CUL4B):c.1444-1G>A
|
|
|
NM_001079872.2(CUL4B):c.1741+4_1741+7del
|
rs1569389364
|
|
NM_001079872.2(CUL4B):c.1786C>T (p.Arg596Cys)
|
rs1556200641
|
|
NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)
|
|
|
NM_001079872.2(CUL4B):c.2576_2588del (p.Gln858_Leu859insTer)
|
|
|
NM_001079872.2(CUL4B):c.2633G>A (p.Arg878Gln)
|
rs1556173896
|
|
NM_001079872.2(CUL4B):c.695dup (p.Tyr232Ter)
|
|
|
NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)
|
|
|
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu)
|
rs2076985517
|
|
NM_001080449.3(DNA2):c.3114+6del
|
rs587777614
|
|
NM_001080510.5(METTL23):c.126del (p.Lys42fs)
|
rs2143866789
|
|
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs)
|
rs746453662
|
|
NM_001080510.5(METTL23):c.204_207del (p.Met68fs)
|
|
|
NM_001080510.5(METTL23):c.409del (p.Ala137fs)
|
|
|
NM_001080517.3(SETD5):c.1877C>G (p.Ser626Ter)
|
rs2042188851
|
|
NM_001080517.3(SETD5):c.2591dup (p.Ser865fs)
|
rs2044336029
|
|
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
|
|
|
NM_001081550.2(THOC2):c.149A>C (p.Tyr50Ser)
|
rs1603326578
|
|
NM_001081550.2(THOC2):c.1844G>A (p.Cys615Tyr)
|
rs2147667154
|
|
NM_001081550.2(THOC2):c.1942G>T (p.Ala648Ser)
|
rs2047665750
|
|
NM_001081550.2(THOC2):c.2087C>T (p.Thr696Ile)
|
rs1556024875
|
|
NM_001081550.2(THOC2):c.2695T>C (p.Tyr899His)
|
rs2147617004
|
|
NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys)
|
rs2047177327
|
|
NM_001081550.2(THOC2):c.34T>C (p.Trp12Arg)
|
rs2148016775
|
|
NM_001081550.2(THOC2):c.3503+4A>C
|
rs1556015437
|
|
NM_001081550.2(THOC2):c.3559C>T (p.His1187Tyr)
|
rs1556014935
|
|
NM_001081550.2(THOC2):c.4450-2A>G
|
rs1556005930
|
|
NM_001082538.3(TCTN1):c.1284del (p.Thr429fs)
|
rs1566003392
|
|
NM_001082538.3(TCTN1):c.1494+2T>C
|
|
|
NM_001083961.2(WDR62):c.1987AAG[1] (p.Lys664del)
|
rs764610550
|
|
NM_001083961.2(WDR62):c.2520+5G>T
|
rs754976942
|
|
NM_001083961.2(WDR62):c.3361del (p.Ala1121fs)
|
rs1973468140
|
|
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del)
|
rs1599375711
|
|
NM_001098511.3(KIF2A):c.217G>A (p.Glu73Lys)
|
rs1747667870
|
|
NM_001098511.3(KIF2A):c.938G>A (p.Gly313Glu)
|
rs1561273261
|
|
NM_001098511.3(KIF2A):c.959C>T (p.Thr320Ile)
|
rs1554042050
|
|
NM_001098621.4(LYSET):c.216dup (p.His73fs)
|
rs1894051550
|
|
NM_001099922.3(ALG13):c.131G>A (p.Gly44Glu)
|
|
|
NM_001099922.3(ALG13):c.320A>T (p.Asn107Ile)
|
rs398122394
|
|
NM_001100913.3(PACS2):c.598G>A (p.Glu200Lys)
|
rs1555408385
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001101.5(ACTB):c.173C>T (p.Ala58Val)
|
rs1784832575
|
|
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr)
|
rs1562720119
|
|
NM_001110556.2(FLNA):c.1065+1G>T
|
rs2067762985
|
|
NM_001110556.2(FLNA):c.1066-1G>A
|
rs2148118126
|
|
NM_001110556.2(FLNA):c.2405-1G>C
|
|
|
NM_001110556.2(FLNA):c.280A>G (p.Asn94Asp)
|
|
|
NM_001110556.2(FLNA):c.2827-2A>C
|
rs2067713488
|
|
NM_001110556.2(FLNA):c.310C>G (p.Leu104Val)
|
|
|
NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)
|
rs28935473
|
|
NM_001110556.2(FLNA):c.374-2A>G
|
|
|
NM_001110556.2(FLNA):c.3805+1G>A
|
|
|
NM_001110556.2(FLNA):c.3805+2T>C
|
|
|
NM_001110556.2(FLNA):c.4142+1G>A
|
rs1603360906
|
|
NM_001110556.2(FLNA):c.4143-1G>T
|
rs1557177485
|
|
NM_001110556.2(FLNA):c.418C>T (p.Leu140Phe)
|
rs2148119483
|
|
NM_001110556.2(FLNA):c.4596_4598+5del
|
rs1557177279
|
|
NM_001110556.2(FLNA):c.4598+1G>A
|
|
|
NM_001110556.2(FLNA):c.5183G>T (p.Gly1728Val)
|
rs2148107380
|
|
NM_001110556.2(FLNA):c.5417-2A>G
|
|
|
NM_001110556.2(FLNA):c.5686+1G>C
|
rs1557176315
|
|
NM_001110556.2(FLNA):c.622+1G>A
|
rs2148119316
|
|
NM_001110556.2(FLNA):c.6425_6428del (p.Glu2142fs)
|
rs2148104376
|
|
NM_001110556.2(FLNA):c.6503-2A>C
|
rs112363874
|
|
NM_001110556.2(FLNA):c.7023+1G>T
|
rs2148102980
|
|
NM_001110556.2(FLNA):c.7333+1G>C
|
rs1557175424
|
|
NM_001110556.2(FLNA):c.733G>A (p.Glu245Lys)
|
rs797044753
|
|
NM_001110556.2(FLNA):c.7768CTG[1] (p.Leu2591del)
|
rs2067597172
|
|
NM_001110556.2(FLNA):c.7930G>C (p.Val2644Leu)
|
|
|
NM_001110556.2(FLNA):c.868+1G>A
|
|
|
NM_001110792.2(MECP2):c.1000C>G (p.Pro334Ala)
|
rs61751449
|
|
NM_001110792.2(MECP2):c.1000C>T (p.Pro334Ser)
|
rs61751449
|
|
NM_001110792.2(MECP2):c.1001C>T (p.Pro334Leu)
|
rs61751450
|
|
NM_001110792.2(MECP2):c.1030_1034del (p.Ser344fs)
|
rs267608558
|
|
NM_001110792.2(MECP2):c.1048_1229del (p.Thr350fs)
|
rs1557135426
|
|
NM_001110792.2(MECP2):c.1072A>C (p.Ser358Arg)
|
rs2148661474
|
|
NM_001110792.2(MECP2):c.1088_1236del (p.Pro363fs)
|
rs1557135338
|
|
NM_001110792.2(MECP2):c.1123_1124insC (p.Lys375fs)
|
rs1557135929
|
|
NM_001110792.2(MECP2):c.1130_1174del (p.Glu377_Pro391del)
|
rs1064792899
|
|
NM_001110792.2(MECP2):c.1152_1155del (p.His384fs)
|
|
|
NM_001110792.2(MECP2):c.1157_1227del (p.Glu386fs)
|
rs1557135447
|
|
NM_001110792.2(MECP2):c.1165_1229del (p.Lys389fs)
|
rs1557135423
|
|
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)
|
rs1557135353
|
|
NM_001110792.2(MECP2):c.1173del (p.Val392fs)
|
rs1557135793
|
|
NM_001110792.2(MECP2):c.1174_1178del (p.Val392fs)
|
|
|
NM_001110792.2(MECP2):c.1188_*29del (p.Pro396_Ter499delinsXaa)
|
rs1557134779
|
|
NM_001110792.2(MECP2):c.1193_*944del (p.Leu398fs)
|
|
|
NM_001110792.2(MECP2):c.1193_1222delinsA (p.Leu398fs)
|
rs2065917262
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1196_1236del (p.Pro399fs)
|
rs267608592
|
|
NM_001110792.2(MECP2):c.1198_1199del (p.Pro400fs)
|
rs267608339
|
|
NM_001110792.2(MECP2):c.1198_1205del (p.Pro400fs)
|
|
|
NM_001110792.2(MECP2):c.1199_1233del (p.Pro400fs)
|
rs267608589
|
|
NM_001110792.2(MECP2):c.1200_1235delinsT (p.Pro401fs)
|
rs1557135346
|
|
NM_001110792.2(MECP2):c.1200_1249delinsCTGAGCACCCCCCAAGAAGGAGCACCACCACCATCACCACCACTCAGAGT (p.Pro401_Pro417delinsTer)
|
|
|
NM_001110792.2(MECP2):c.1200del (p.Pro401fs)
|
rs267608606
|
|
NM_001110792.2(MECP2):c.1206_1243del (p.Pro402_Pro403insTer)
|
rs267608609
|
|
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer)
|
rs2148659508
|
|
NM_001110792.2(MECP2):c.1226dup (p.Asp410fs)
|
rs267608610
|
|
NM_001110792.2(MECP2):c.1232_1302del (p.Pro411fs)
|
rs1557135137
|
|
NM_001110792.2(MECP2):c.1233dup (p.Thr412fs)
|
rs267608612
|
|
NM_001110792.2(MECP2):c.1238dup (p.Ser413fs)
|
rs267608614
|
|
NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs)
|
rs267608615
|
|
NM_001110792.2(MECP2):c.1259_1301del (p.Leu420fs)
|
rs63749038
|
|
NM_001110792.2(MECP2):c.1271_1296del (p.Val424fs)
|
rs267608617
|
|
NM_001110792.2(MECP2):c.127del (p.Lys42_Val43insTer)
|
rs61754427
|
|
NM_001110792.2(MECP2):c.1307_1452del (p.Leu436fs)
|
rs1557134923
|
|
NM_001110792.2(MECP2):c.1366_1378del (p.Ala456fs)
|
rs63749065
|
|
NM_001110792.2(MECP2):c.1386C>G (p.Tyr462Ter)
|
rs1557134999
|
|
NM_001110792.2(MECP2):c.1402G>T (p.Gly468Ter)
|
|
|
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs)
|
rs267608424
|
|
NM_001110792.2(MECP2):c.1440dup (p.Pro481fs)
|
rs2065902096
|
|
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs)
|
rs267608634
|
|
NM_001110792.2(MECP2):c.1486_*12del (p.Arg496_Ter499del)
|
rs267608637
|
|
NM_001110792.2(MECP2):c.1495T>C (p.Ter499Arg)
|
rs267608337
|
|
NM_001110792.2(MECP2):c.1496G>C (p.Ter499Ser)
|
rs267608399
|
|
NM_001110792.2(MECP2):c.1497A>C (p.Ter499Cys)
|
rs267608642
|
|
NM_001110792.2(MECP2):c.1497A>G (p.Ter499Trp)
|
rs267608642
|
|
NM_001110792.2(MECP2):c.155_156del (p.Glu52fs)
|
rs267608428
|
|
NM_001110792.2(MECP2):c.177_180dup (p.Ser61fs)
|
rs2065988707
|
|
NM_001110792.2(MECP2):c.1A>G (p.Met1Val)
|
rs587783132
|
|
NM_001110792.2(MECP2):c.1A>T (p.Met1Leu)
|
rs587783132
|
|
NM_001110792.2(MECP2):c.215G>A (p.Gly72Asp)
|
rs2148666907
|
|
NM_001110792.2(MECP2):c.237del (p.Ser80fs)
|
rs61754438
|
|
NM_001110792.2(MECP2):c.239C>G (p.Ser80Ter)
|
rs267608438
|
|
NM_001110792.2(MECP2):c.254_260del (p.Ala85fs)
|
rs2148666767
|
|
NM_001110792.2(MECP2):c.265_274del (p.Ala89fs)
|
rs63749009
|
|
NM_001110792.2(MECP2):c.2T>C (p.Met1Thr)
|
rs2066907057
|
|
NM_001110792.2(MECP2):c.325G>T (p.Asp109Tyr)
|
rs61754448
|
|
NM_001110792.2(MECP2):c.331_333del (p.Thr111del)
|
rs267608449
|
|
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser)
|
rs61754452
|
|
NM_001110792.2(MECP2):c.338C>A (p.Pro113His)
|
rs61754453
|
|
NM_001110792.2(MECP2):c.347G>A (p.Trp116Ter)
|
rs61754455
|
|
NM_001110792.2(MECP2):c.347_359del (p.Trp116fs)
|
rs63749010
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.359T>C (p.Leu120Pro)
|
rs61754458
|
|
NM_001110792.2(MECP2):c.368G>A (p.Arg123Lys)
|
rs1057518718
|
|
NM_001110792.2(MECP2):c.368G>C (p.Arg123Thr)
|
|
|
NM_001110792.2(MECP2):c.381del (p.Ser128fs)
|
rs61755761
|
|
NM_001110792.2(MECP2):c.386C>G (p.Ala129Gly)
|
|
|
NM_001110792.2(MECP2):c.398A>T (p.Asp133Val)
|
rs61755762
|
|
NM_001110792.2(MECP2):c.402_406dup (p.Leu136fs)
|
|
|
NM_001110792.2(MECP2):c.406T>G (p.Leu136Val)
|
rs2148666355
|
|
NM_001110792.2(MECP2):c.413A>T (p.Asn138Ile)
|
|
|
NM_001110792.2(MECP2):c.414-3C>G
|
rs267608465
|
|
NM_001110792.2(MECP2):c.418C>A (p.Gln140Lys)
|
rs267608469
|
|
NM_001110792.2(MECP2):c.419A>C (p.Gln140Pro)
|
rs61748383
|
|
NM_001110792.2(MECP2):c.428C>A (p.Ala143Asp)
|
rs267608470
|
|
NM_001110792.2(MECP2):c.433C>G (p.Arg145Gly)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.441A>C (p.Lys147Asn)
|
|
|
NM_001110792.2(MECP2):c.445G>C (p.Glu149Gln)
|
|
|
NM_001110792.2(MECP2):c.449T>A (p.Leu150Ter)
|
rs267608475
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.456del (p.Tyr153fs)
|
rs267608476
|
|
NM_001110792.2(MECP2):c.47_57dup (p.Arg20fs)
|
rs786205042
|
|
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr)
|
rs1557137042
|
|
NM_001110792.2(MECP2):c.487del (p.Asp163fs)
|
rs61748402
|
|
NM_001110792.2(MECP2):c.488A>G (p.Asp163Gly)
|
rs61748403
|
|
NM_001110792.2(MECP2):c.490C>A (p.Pro164Thr)
|
|
|
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr)
|
rs1603309620
|
|
NM_001110792.2(MECP2):c.503A>C (p.Asp168Ala)
|
rs61748407
|
|
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly)
|
rs61748407
|
|
NM_001110792.2(MECP2):c.504C>A (p.Asp168Glu)
|
rs61748408
|
|
NM_001110792.2(MECP2):c.505T>A (p.Phe169Ile)
|
rs61748410
|
|
NM_001110792.2(MECP2):c.506T>G (p.Phe169Cys)
|
|
|
NM_001110792.2(MECP2):c.506dup (p.Thr170fs)
|
rs267608482
|
|
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu)
|
rs267608484
|
|
NM_001110792.2(MECP2):c.509C>A (p.Thr170Lys)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.509C>G (p.Thr170Arg)
|
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.511del (p.Thr170_Val171insTer)
|
rs267608485
|
|
NM_001110792.2(MECP2):c.517G>T (p.Gly173Trp)
|
rs61748416
|
|
NM_001110792.2(MECP2):c.518G>T (p.Gly173Val)
|
rs61748417
|
|
NM_001110792.2(MECP2):c.519del (p.Arg174fs)
|
rs61748418
|
|
NM_001110792.2(MECP2):c.531del (p.Ser178fs)
|
rs267608489
|
|
NM_001110792.2(MECP2):c.536G>C (p.Arg179Pro)
|
rs2148663951
|
|
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr)
|
rs61748427
|
|
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val)
|
rs179363901
|
|
NM_001110792.2(MECP2):c.605G>A (p.Arg202His)
|
rs1557136818
|
|
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter)
|
rs193922679
|
|
NM_001110792.2(MECP2):c.63-5800_1271del
|
|
|
NM_001110792.2(MECP2):c.63-6C>G
|
rs267608411
|
|
NM_001110792.2(MECP2):c.637dup (p.Ala213fs)
|
rs267608503
|
|
NM_001110792.2(MECP2):c.64G>T (p.Glu22Ter)
|
rs61754421
|
|
NM_001110792.2(MECP2):c.653del (p.Gly218fs)
|
rs61749727
|
|
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu)
|
rs878853312
|
|
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr)
|
rs267608513
|
|
NM_001110792.2(MECP2):c.710C>G (p.Pro237Arg)
|
rs61749715
|
|
NM_001110792.2(MECP2):c.715C>T (p.Gln239Ter)
|
|
|
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs)
|
rs1557136493
|
|
NM_001110792.2(MECP2):c.747_1305del (p.Gly250fs)
|
rs1557135125
|
|
NM_001110792.2(MECP2):c.764_767del (p.Thr255fs)
|
rs1569548428
|
|
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs)
|
rs267608520
|
|
NM_001110792.2(MECP2):c.784_785insT (p.Arg262fs)
|
rs1557136549
|
|
NM_001110792.2(MECP2):c.789dup (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.793delinsTT (p.Arg265fs)
|
|
|
NM_001110792.2(MECP2):c.799C>G (p.Arg267Gly)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.818del (p.Pro273fs)
|
|
|
NM_001110792.2(MECP2):c.828_829del (p.Pro277fs)
|
rs267608526
|
|
NM_001110792.2(MECP2):c.848_854del (p.Lys283fs)
|
rs61750242
|
|
NM_001110792.2(MECP2):c.858_1220del (p.Val287_Ser407del)
|
rs1557135541
|
|
NM_001110792.2(MECP2):c.872C>T (p.Ala291Val)
|
rs61750249
|
|
NM_001110792.2(MECP2):c.876del (p.Ala293fs)
|
rs1557136332
|
|
NM_001110792.2(MECP2):c.881A>G (p.Glu294Gly)
|
|
|
NM_001110792.2(MECP2):c.885_1272del (p.Lys296fs)
|
rs1557135197
|
|
NM_001110792.2(MECP2):c.890del (p.Lys297fs)
|
rs267608531
|
|
NM_001110792.2(MECP2):c.900dup (p.Lys301fs)
|
rs267608535
|
|
NM_001110792.2(MECP2):c.901A>T (p.Lys301Ter)
|
rs61750259
|
|
NM_001110792.2(MECP2):c.907_1080del (p.Ile305_Ser362del)
|
rs1557136013
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.916_920del (p.Arg306fs)
|
rs61751364
|
|
NM_001110792.2(MECP2):c.92dup (p.Leu33fs)
|
rs267608417
|
|
NM_001110792.2(MECP2):c.930_1131del (p.Glu310fs)
|
rs1557135907
|
|
NM_001110792.2(MECP2):c.934G>A (p.Val312Ile)
|
rs61751370
|
|
NM_001110792.2(MECP2):c.934del (p.Val312fs)
|
rs267608544
|
|
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val)
|
rs1557136251
|
|
NM_001110792.2(MECP2):c.941C>G (p.Pro314Arg)
|
rs61749723
|
|
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu)
|
rs61749723
|
|
NM_001110792.2(MECP2):c.942_1174delinsAC (p.Ile315_Val392delinsLeu)
|
rs1557135788
|
|
NM_001110792.2(MECP2):c.946A>G (p.Lys316Glu)
|
rs61751440
|
|
NM_001110792.2(MECP2):c.950A>C (p.Lys317Thr)
|
|
|
NM_001110792.2(MECP2):c.950A>G (p.Lys317Arg)
|
rs61751441
|
|
NM_001110792.2(MECP2):c.951G>T (p.Lys317Asn)
|
rs1057519543
|
|
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
|
rs61751443
|
|
NM_001110792.2(MECP2):c.957G>C (p.Lys319Asn)
|
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001110792.2(MECP2):c.962G>A (p.Arg321Gln)
|
rs2065935636
|
|
NM_001110792.2(MECP2):c.[1046_1072del;1123AAG[1]1152_1282del]
|
|
|
NM_001111067.4(ACVR1):c.772A>G (p.Arg258Gly)
|
rs863224846
|
|
NM_001111067.4(ACVR1):c.773G>T (p.Arg258Met)
|
rs1057519875
|
|
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu)
|
rs387906589
|
|
NM_001111067.4(ACVR1):c.983G>T (p.Gly328Val)
|
rs387906589
|
|
NM_001111125.3(IQSEC2):c.1229del (p.Pro410fs)
|
rs1569305431
|
|
NM_001111125.3(IQSEC2):c.1401+2T>A
|
|
|
NM_001111125.3(IQSEC2):c.1402-124_1533del
|
|
|
NM_001111125.3(IQSEC2):c.1591C>T (p.Arg531Ter)
|
rs1602284689
|
|
NM_001111125.3(IQSEC2):c.1655_1667dup (p.Pro557fs)
|
|
|
NM_001111125.3(IQSEC2):c.2295C>G (p.Asn765Lys)
|
|
|
NM_001111125.3(IQSEC2):c.2297+2T>C
|
rs2147096217
|
|
NM_001111125.3(IQSEC2):c.2460-2A>G
|
rs1602279457
|
|
NM_001111125.3(IQSEC2):c.2507C>T (p.Ala836Val)
|
rs782099475
|
|
NM_001111125.3(IQSEC2):c.2519T>C (p.Phe840Ser)
|
rs2074335877
|
|
NM_001111125.3(IQSEC2):c.2551C>T (p.Gln851Ter)
|
|
|
NM_001111125.3(IQSEC2):c.2582+1del
|
rs2074335019
|
|
NM_001111125.3(IQSEC2):c.2587C>T (p.Arg863Trp)
|
rs267607186
|
|
NM_001111125.3(IQSEC2):c.2854C>T (p.Gln952Ter)
|
rs1057518993
|
|
NM_001111125.3(IQSEC2):c.2983C>T (p.Arg995Trp)
|
rs1057521657
|
|
NM_001111125.3(IQSEC2):c.2984G>A (p.Arg995Gln)
|
rs886041767
|
|
NM_001111125.3(IQSEC2):c.2984G>C (p.Arg995Pro)
|
|
|
NM_001111125.3(IQSEC2):c.3005A>G (p.Asp1002Gly)
|
rs2147049209
|
|
NM_001111125.3(IQSEC2):c.3279G>A (p.Ser1093=)
|
rs1602260263
|
|
NM_001111125.3(IQSEC2):c.3284_3310del (p.Leu1095_Arg1103del)
|
rs2147015547
|
|
NM_001111125.3(IQSEC2):c.3451+1G>C
|
|
|
NM_001111125.3(IQSEC2):c.3463C>G (p.Arg1155Gly)
|
rs2074117985
|
|
NM_001111125.3(IQSEC2):c.3474C>T (p.Ser1158=)
|
rs2147010150
|
|
NM_001111125.3(IQSEC2):c.3817C>T (p.Gln1273Ter)
|
rs1569291699
|
|
NM_001111125.3(IQSEC2):c.3875del (p.Pro1292fs)
|
rs1569291627
|
|
NM_001111125.3(IQSEC2):c.4038_4039dup (p.Ala1347fs)
|
rs1064795512
|
|
NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs)
|
rs2074096700
|
|
NM_001111125.3(IQSEC2):c.4285_4286del (p.Ser1429fs)
|
rs2147000837
|
|
NM_001111125.3(IQSEC2):c.586_707+728del
|
rs2146544783
|
|
NM_001111125.3(IQSEC2):c.738-1G>A
|
|
|
NM_001111125.3(IQSEC2):c.943dup (p.Arg315fs)
|
rs2147127449
|
|
NM_001111125.3(IQSEC2):c.956del (p.Leu319fs)
|
rs2074458024
|
|
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)
|
rs1849236683
|
|
NM_001112741.2(KCNC1):c.1023C>G (p.Ser341Arg)
|
|
|
NM_001112741.2(KCNC1):c.108del (p.Trp36fs)
|
rs1590088831
|
|
NM_001112741.2(KCNC1):c.1196C>T (p.Thr399Met)
|
rs2133805364
|
|
NM_001112741.2(KCNC1):c.1262C>T (p.Ala421Val)
|
rs1554991378
|
|
NM_001112741.2(KCNC1):c.1294G>C (p.Val432Leu)
|
|
|
NM_001112741.2(KCNC1):c.1370del (p.Lys457fs)
|
rs1590106815
|
|
NM_001112741.2(KCNC1):c.490C>T (p.Arg164Trp)
|
rs756544748
|
|
NM_001112741.2(KCNC1):c.691A>G (p.Thr231Ala)
|
rs1565162623
|
|
NM_001113498.3(MDGA2):c.278_279dup (p.Ala94fs)
|
|
|
NM_001114748.2(TMEM240):c.196G>A (p.Gly66Arg)
|
rs1057518011
|
|
NM_001114748.2(TMEM240):c.419T>A (p.Leu140Gln)
|
rs2100695149
|
|
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu)
|
rs606231451
|
|
NM_001122955.4(BSCL2):c.446C>G (p.Pro149Arg)
|
|
|
NM_001127178.3(PIGG):c.1030A>C (p.Met344Leu)
|
rs757141700
|
|
NM_001127178.3(PIGG):c.1114+2T>G
|
|
|
NM_001127178.3(PIGG):c.1332+1G>T
|
rs779043705
|
|
NM_001127178.3(PIGG):c.1333-1G>A
|
|
|
NM_001127178.3(PIGG):c.154+2T>C
|
|
|
NM_001127178.3(PIGG):c.2069+1G>C
|
rs2108969826
|
|
NM_001127178.3(PIGG):c.2069+2T>G
|
|
|
NM_001127178.3(PIGG):c.2778_2782del (p.Cys927fs)
|
|
|
NM_001127178.3(PIGG):c.342dup (p.Thr115fs)
|
rs886041687
|
|
NM_001127178.3(PIGG):c.641A>G (p.His214Arg)
|
|
|
NM_001127178.3(PIGG):c.759+2T>C
|
rs1720189292
|
|
NM_001127178.3(PIGG):c.768_769dup (p.Thr257fs)
|
rs1229339759
|
|
NM_001127222.2(CACNA1A):c.1060C>T (p.Leu354Phe)
|
rs1555767914
|
|
NM_001127222.2(CACNA1A):c.1198+1G>A
|
rs1057518513
|
|
NM_001127222.2(CACNA1A):c.1282del (p.Ser428fs)
|
|
|
NM_001127222.2(CACNA1A):c.1321C>T (p.Gln441Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1345+1G>A
|
rs2145114772
|
|
NM_001127222.2(CACNA1A):c.1498A>G (p.Thr500Ala)
|
|
|
NM_001127222.2(CACNA1A):c.1555+2del
|
rs1600313212
|
|
NM_001127222.2(CACNA1A):c.1586_1587del (p.Phe529fs)
|
rs1555761603
|
|
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs)
|
rs2058057299
|
|
NM_001127222.2(CACNA1A):c.1839C>G (p.Ile613Met)
|
rs374686479
|
|
NM_001127222.2(CACNA1A):c.184T>A (p.Tyr62Asn)
|
|
|
NM_001127222.2(CACNA1A):c.184T>C (p.Tyr62His)
|
|
|
NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser)
|
rs2145004155
|
|
NM_001127222.2(CACNA1A):c.185A>G (p.Tyr62Cys)
|
|
|
NM_001127222.2(CACNA1A):c.1870A>T (p.Ile624Phe)
|
rs2145004096
|
|
NM_001127222.2(CACNA1A):c.1883C>T (p.Ala628Val)
|
rs1600292507
|
|
NM_001127222.2(CACNA1A):c.1913+1G>A
|
|
|
NM_001127222.2(CACNA1A):c.2000A>C (p.Glu667Ala)
|
|
|
NM_001127222.2(CACNA1A):c.2006G>A (p.Trp669Ter)
|
rs1555757537
|
|
NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del)
|
rs2144980726
|
|
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)
|
rs1064794262
|
|
NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu)
|
rs2144980363
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
|
|
|
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)
|
rs2144979269
|
|
NM_001127222.2(CACNA1A):c.2140G>C (p.Asp714His)
|
|
|
NM_001127222.2(CACNA1A):c.2144A>C (p.Asn715Thr)
|
rs1555757432
|
|
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
|
|
|
NM_001127222.2(CACNA1A):c.2345G>C (p.Arg782Pro)
|
rs1233611505
|
|
NM_001127222.2(CACNA1A):c.2524_2551del (p.Glu842fs)
|
rs2144956632
|
|
NM_001127222.2(CACNA1A):c.2598_2599dup (p.Arg867fs)
|
rs2144956340
|
|
NM_001127222.2(CACNA1A):c.2602del (p.Ala868fs)
|
|
|
NM_001127222.2(CACNA1A):c.2804_2814dup (p.Ser939fs)
|
rs1600272344
|
|
NM_001127222.2(CACNA1A):c.2812_2813del (p.Gly938fs)
|
|
|
NM_001127222.2(CACNA1A):c.2958_2959dup (p.Arg987fs)
|
rs1555755878
|
|
NM_001127222.2(CACNA1A):c.301G>A (p.Glu101Lys)
|
rs886037944
|
|
NM_001127222.2(CACNA1A):c.3134C>G (p.Ser1045Ter)
|
rs2144889289
|
|
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val)
|
rs1599294284
|
|
NM_001127222.2(CACNA1A):c.3478_3479del (p.Ala1160fs)
|
rs2057404744
|
|
NM_001127222.2(CACNA1A):c.3631G>T (p.Glu1211Ter)
|
rs2057372365
|
|
NM_001127222.2(CACNA1A):c.3692+1G>A
|
rs1315533129
|
|
NM_001127222.2(CACNA1A):c.3823-1G>C
|
|
|
NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)
|
rs2144833336
|
|
NM_001127222.2(CACNA1A):c.399+1G>A
|
rs2060983144
|
|
NM_001127222.2(CACNA1A):c.3990-2A>G
|
rs1057524483
|
|
NM_001127222.2(CACNA1A):c.4027T>C (p.Ser1343Pro)
|
rs2056768058
|
|
NM_001127222.2(CACNA1A):c.4028C>A (p.Ser1343Tyr)
|
rs2056767982
|
|
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)
|
rs2144773045
|
|
NM_001127222.2(CACNA1A):c.4042C>T (p.Arg1348Trp)
|
rs1064794858
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
NM_001127222.2(CACNA1A):c.4064C>A (p.Thr1355Asn)
|
rs2056767062
|
|
NM_001127222.2(CACNA1A):c.4067_4069del (p.Ile1356del)
|
|
|
NM_001127222.2(CACNA1A):c.4073G>A (p.Arg1358Gln)
|
|
|
NM_001127222.2(CACNA1A):c.4089+1G>A
|
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4174G>T (p.Val1392Leu)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala)
|
rs2144767386
|
|
NM_001127222.2(CACNA1A):c.4215C>A (p.Cys1405Ter)
|
|
|
NM_001127222.2(CACNA1A):c.4261del (p.Leu1421fs)
|
|
|
NM_001127222.2(CACNA1A):c.4270G>T (p.Glu1424Ter)
|
|
|
NM_001127222.2(CACNA1A):c.4363G>A (p.Val1455Met)
|
rs121908237
|
|
NM_001127222.2(CACNA1A):c.4534A>G (p.Thr1512Ala)
|
|
|
NM_001127222.2(CACNA1A):c.4549G>A (p.Gly1517Arg)
|
rs2144748225
|
|
NM_001127222.2(CACNA1A):c.4866+1G>T
|
rs2144725957
|
|
NM_001127222.2(CACNA1A):c.4897G>A (p.Asp1633Asn)
|
rs1555740805
|
|
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn)
|
rs1064795531
|
|
NM_001127222.2(CACNA1A):c.4927G>T (p.Asp1643Tyr)
|
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001127222.2(CACNA1A):c.4997G>C (p.Arg1666Pro)
|
rs1568447650
|
|
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)
|
rs794727558
|
|
NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)
|
rs1057519429
|
|
NM_001127222.2(CACNA1A):c.5032C>A (p.Arg1678Ser)
|
|
|
NM_001127222.2(CACNA1A):c.5033dup (p.Ile1679fs)
|
|
|
NM_001127222.2(CACNA1A):c.5060C>T (p.Ser1687Phe)
|
rs1568447557
|
|
NM_001127222.2(CACNA1A):c.5068-1G>A
|
rs2144648058
|
|
NM_001127222.2(CACNA1A):c.5072T>A (p.Leu1691Gln)
|
rs2055835744
|
|
NM_001127222.2(CACNA1A):c.5104TTC[1] (p.Phe1703del)
|
rs2144647916
|
|
NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)
|
rs2144647872
|
|
NM_001127222.2(CACNA1A):c.5122A>C (p.Ile1708Leu)
|
rs2144647855
|
|
NM_001127222.2(CACNA1A):c.5133+2T>A
|
|
|
NM_001127222.2(CACNA1A):c.5134-2del
|
|
|
NM_001127222.2(CACNA1A):c.519C>A (p.Asp173Glu)
|
rs2144936093
|
|
NM_001127222.2(CACNA1A):c.5250-2A>G
|
|
|
NM_001127222.2(CACNA1A):c.5264A>G (p.Glu1755Gly)
|
|
|
NM_001127222.2(CACNA1A):c.5273ACA[1] (p.Asn1759del)
|
rs2055675454
|
|
NM_001127222.2(CACNA1A):c.5393C>T (p.Ser1798Leu)
|
rs1064794261
|
|
NM_001127222.2(CACNA1A):c.540-1G>C
|
rs2144559526
|
|
NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)
|
rs2144622461
|
|
NM_001127222.2(CACNA1A):c.5419G>A (p.Ala1807Thr)
|
rs1555736565
|
|
NM_001127222.2(CACNA1A):c.5425A>G (p.Ile1809Val)
|
|
|
NM_001127222.2(CACNA1A):c.5426T>C (p.Ile1809Thr)
|
rs2055612479
|
|
NM_001127222.2(CACNA1A):c.5439dup (p.Glu1814Ter)
|
rs2055612253
|
|
NM_001127222.2(CACNA1A):c.548C>T (p.Ala183Val)
|
|
|
NM_001127222.2(CACNA1A):c.5529-1215C>T
|
rs2144616690
|
|
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del
|
rs1568440440
|
|
NM_001127222.2(CACNA1A):c.5529-1270A>G
|
|
|
NM_001127222.2(CACNA1A):c.5839+1G>C
|
rs951196653
|
|
NM_001127222.2(CACNA1A):c.5840-2A>G
|
rs2144536202
|
|
NM_001127222.2(CACNA1A):c.5840-2A>T
|
rs2144536202
|
|
NM_001127222.2(CACNA1A):c.593G>A (p.Arg198Gln)
|
rs797045424
|
|
NM_001127222.2(CACNA1A):c.5940+1G>A
|
rs2144535495
|
|
NM_001127222.2(CACNA1A):c.6189+1G>A
|
rs2144524396
|
|
NM_001127222.2(CACNA1A):c.6190-2A>C
|
rs1064796709
|
|
NM_001127222.2(CACNA1A):c.631+2T>C
|
|
|
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter)
|
rs1555730878
|
|
NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro)
|
rs2144523407
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
NM_001127222.2(CACNA1A):c.674C>G (p.Pro225Arg)
|
rs2059190701
|
|
NM_001127222.2(CACNA1A):c.676_784+1178del
|
|
|
NM_001127222.2(CACNA1A):c.680T>G (p.Leu227Arg)
|
rs1057522420
|
|
NM_001127222.2(CACNA1A):c.688G>A (p.Gly230Ser)
|
rs1555774859
|
|
NM_001127222.2(CACNA1A):c.688G>C (p.Gly230Arg)
|
rs1555774859
|
|
NM_001127222.2(CACNA1A):c.7249G>T (p.Glu2417Ter)
|
rs1008881855
|
|
NM_001127222.2(CACNA1A):c.757C>T (p.His253Tyr)
|
rs121908228
|
|
NM_001127222.2(CACNA1A):c.816T>A (p.Cys272Ter)
|
|
|
NM_001127222.2(CACNA1A):c.832G>A (p.Ala278Thr)
|
rs1013100046
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
NM_001127222.2(CACNA1A):c.904G>A (p.Asp302Asn)
|
rs863224852
|
|
NM_001127222.2(CACNA1A):c.905A>G (p.Asp302Gly)
|
rs2059067761
|
|
NM_001127222.2(CACNA1A):c.949A>C (p.Met317Leu)
|
|
|
NM_001127222.2(CACNA1A):c.978+1G>C
|
rs2145245078
|
|
NM_001127644.2(GABRA1):c.1207G>C (p.Glu403Gln)
|
rs775157869
|
|
NM_001127644.2(GABRA1):c.124T>C (p.Phe42Leu)
|
rs2113307162
|
|
NM_001127644.2(GABRA1):c.256-2A>G
|
rs1064795805
|
|
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn)
|
rs796052488
|
|
NM_001127644.2(GABRA1):c.269A>T (p.Asp90Val)
|
|
|
NM_001127644.2(GABRA1):c.440G>A (p.Arg147Gln)
|
rs1376907797
|
|
NM_001127644.2(GABRA1):c.476+2T>A
|
rs2113381723
|
|
NM_001127644.2(GABRA1):c.563C>A (p.Ala188Asp)
|
|
|
NM_001127644.2(GABRA1):c.5G>A (p.Arg2Lys)
|
rs2113293570
|
|
NM_001127644.2(GABRA1):c.640C>T (p.Arg214Cys)
|
rs727503940
|
|
NM_001127644.2(GABRA1):c.641G>A (p.Arg214His)
|
rs886039373
|
|
NM_001127644.2(GABRA1):c.643C>A (p.Leu215Ile)
|
rs1554086436
|
|
NM_001127644.2(GABRA1):c.647A>T (p.Asn216Ile)
|
|
|
NM_001127644.2(GABRA1):c.763A>T (p.Ile255Phe)
|
rs1755061747
|
|
NM_001127644.2(GABRA1):c.785_786dup (p.Met263Ter)
|
|
|
NM_001127644.2(GABRA1):c.788T>C (p.Met263Thr)
|
rs796052491
|
|
NM_001127644.2(GABRA1):c.789G>A (p.Met263Ile)
|
rs1060499553
|
|
NM_001127644.2(GABRA1):c.799C>A (p.Leu267Ile)
|
rs796052492
|
|
NM_001127644.2(GABRA1):c.799C>T (p.Leu267Phe)
|
rs796052492
|
|
NM_001127644.2(GABRA1):c.825C>A (p.Asn275Lys)
|
rs1755063970
|
|
NM_001127644.2(GABRA1):c.839C>T (p.Pro280Leu)
|
|
|
NM_001127644.2(GABRA1):c.857-2A>G
|
rs1313965409
|
|
NM_001127644.2(GABRA1):c.869_888del (p.Val290fs)
|
rs1561587715
|
|
NM_001127644.2(GABRA1):c.884C>T (p.Thr295Ile)
|
rs796052496
|
|
NM_001127644.2(GABRA1):c.888G>T (p.Leu296Phe)
|
rs1173578471
|
|
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg)
|
rs1581220163
|
|
NM_001127644.2(GABRA1):c.922G>A (p.Ala308Thr)
|
rs1755334003
|
|
NM_001127649.3(PEX26):c.-3_17delinsTGCAGCCCCCCTCAGGGGGCTCGGGG (p.Met1_Ser6delinsSerProProGlnGlyAlaArgGly)
|
|
|
NM_001127649.3(PEX26):c.134T>C (p.Leu45Pro)
|
rs61752132
|
|
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter)
|
rs1556586479
|
|
NM_001127649.3(PEX26):c.228C>T (p.Gly76=)
|
rs786205556
|
|
NM_001127649.3(PEX26):c.256T>C (p.Cys86Arg)
|
|
|
NM_001127649.3(PEX26):c.265G>A (p.Gly89Arg)
|
rs28940308
|
|
NM_001127649.3(PEX26):c.27_58dup (p.Arg20fs)
|
|
|
NM_001127649.3(PEX26):c.2T>C (p.Met1Thr)
|
rs74315506
|
|
NM_001127649.3(PEX26):c.330C>G (p.Tyr110Ter)
|
|
|
NM_001127649.3(PEX26):c.349C>A (p.Pro117Thr)
|
rs2123647622
|
|
NM_001127649.3(PEX26):c.350C>T (p.Pro117Leu)
|
|
|
NM_001127649.3(PEX26):c.353C>G (p.Pro118Arg)
|
rs61752135
|
|
NM_001127649.3(PEX26):c.354del (p.Val120fs)
|
rs1926487809
|
|
NM_001127649.3(PEX26):c.361_362del (p.Leu121fs)
|
|
|
NM_001127649.3(PEX26):c.372-2A>G
|
|
|
NM_001127649.3(PEX26):c.379_380delinsGA (p.Leu127Glu)
|
|
|
NM_001127649.3(PEX26):c.394C>T (p.Gln132Ter)
|
|
|
NM_001127649.3(PEX26):c.468T>A (p.Tyr156Ter)
|
|
|
NM_001127649.3(PEX26):c.668-2A>G
|
rs2123657331
|
|
NM_001127649.3(PEX26):c.71del (p.Pro24fs)
|
|
|
NM_001127649.3(PEX26):c.789_798del (p.Cys263fs)
|
rs1926794975
|
|
NM_001127649.3(PEX26):c.814+1G>A
|
|
|
NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs)
|
|
|
NM_001128178.3(NPHP1):c.1083+1G>A
|
|
|
NM_001128178.3(NPHP1):c.1084-2A>C
|
|
|
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)
|
|
|
NM_001128178.3(NPHP1):c.1190del (p.Gly397fs)
|
|
|
NM_001128178.3(NPHP1):c.1270-2A>G
|
|
|
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)
|
|
|
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
|
|
|
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)
|
|
|
NM_001128178.3(NPHP1):c.1323del (p.Phe441fs)
|
|
|
NM_001128178.3(NPHP1):c.1352+2T>G
|
|
|
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs)
|
rs2104483923
|
|
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)
|
|
|
NM_001128178.3(NPHP1):c.141_143+40del
|
|
|
NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs)
|
|
|
NM_001128178.3(NPHP1):c.144-1G>A
|
|
|
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)
|
|
|
NM_001128178.3(NPHP1):c.1643-1G>C
|
|
|
NM_001128178.3(NPHP1):c.1643-2A>G
|
|
|
NM_001128178.3(NPHP1):c.1717-1dup
|
|
|
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)
|
|
|
NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs)
|
|
|
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)
|
|
|
NM_001128178.3(NPHP1):c.483del (p.Asp162fs)
|
rs1410236296
|
|
NM_001128178.3(NPHP1):c.69+1G>T
|
|
|
NM_001128178.3(NPHP1):c.69+1del
|
|
|
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)
|
|
|
NM_001128178.3(NPHP1):c.738_739del (p.His247fs)
|
|
|
NM_001128178.3(NPHP1):c.771+124C>T
|
|
|
NM_001128178.3(NPHP1):c.771+58C>T
|
|
|
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)
|
|
|
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
|
|
|
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
|
|
|
NM_001129.5(AEBP1):c.2604C>A (p.Cys868Ter)
|
|
|
NM_001130438.3(SPTAN1):c.1086-2A>C
|
rs2131028639
|
|
NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter)
|
rs2131030804
|
|
NM_001130438.3(SPTAN1):c.1390_1398dup (p.Cys466_Met467insGluGlnCys)
|
|
|
NM_001130438.3(SPTAN1):c.1572+1G>T
|
|
|
NM_001130438.3(SPTAN1):c.1595A>G (p.Lys532Arg)
|
rs886063501
|
|
NM_001130438.3(SPTAN1):c.2570C>T (p.Ala857Val)
|
rs2131193011
|
|
NM_001130438.3(SPTAN1):c.3007-2A>G
|
|
|
NM_001130438.3(SPTAN1):c.316G>A (p.Gly106Arg)
|
rs1564197227
|
|
NM_001130438.3(SPTAN1):c.3299C>T (p.Ala1100Val)
|
|
|
NM_001130438.3(SPTAN1):c.3520-2A>G
|
|
|
NM_001130438.3(SPTAN1):c.363+1G>A
|
rs1554737064
|
|
NM_001130438.3(SPTAN1):c.3716A>G (p.His1239Arg)
|
rs1554756114
|
|
NM_001130438.3(SPTAN1):c.415C>T (p.Arg139Ter)
|
rs1851109762
|
|
NM_001130438.3(SPTAN1):c.4460A>T (p.His1487Leu)
|
rs1589311413
|
|
NM_001130438.3(SPTAN1):c.4640T>A (p.Leu1547Gln)
|
rs1856289676
|
|
NM_001130438.3(SPTAN1):c.4828C>T (p.Arg1610Trp)
|
rs1131691643
|
|
NM_001130438.3(SPTAN1):c.5017A>G (p.Lys1673Glu)
|
rs2131682815
|
|
NM_001130438.3(SPTAN1):c.5194A>T (p.Ser1732Cys)
|
rs2131744077
|
|
NM_001130438.3(SPTAN1):c.5326C>T (p.Arg1776Trp)
|
rs1232614751
|
|
NM_001130438.3(SPTAN1):c.533G>A (p.Gly178Asp)
|
rs2130975930
|
|
NM_001130438.3(SPTAN1):c.5567_5568del (p.His1856fs)
|
|
|
NM_001130438.3(SPTAN1):c.5921A>G (p.Lys1974Arg)
|
rs1858423393
|
|
NM_001130438.3(SPTAN1):c.6184C>T (p.Arg2062Trp)
|
rs2131953982
|
|
NM_001130438.3(SPTAN1):c.6338A>T (p.Glu2113Val)
|
rs2131965427
|
|
NM_001130438.3(SPTAN1):c.6370C>T (p.Arg2124Cys)
|
rs1193718145
|
|
NM_001130438.3(SPTAN1):c.656A>G (p.Gln219Arg)
|
rs1851359623
|
|
NM_001130438.3(SPTAN1):c.6592_6597dup (p.Leu2198_Gln2199dup)
|
rs1589393179
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
NM_001130438.3(SPTAN1):c.6622_6624del (p.Asn2208del)
|
rs2131985621
|
|
NM_001130438.3(SPTAN1):c.6690-17G>A
|
rs1554767335
|
|
NM_001130438.3(SPTAN1):c.6811G>A (p.Glu2271Lys)
|
rs1859859572
|
|
NM_001130438.3(SPTAN1):c.6843_6848del (p.Ile2282_Leu2283del)
|
rs1589416130
|
|
NM_001130438.3(SPTAN1):c.6850_6852del (p.Asp2284del)
|
rs2132088836
|
|
NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val)
|
rs796053327
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6910_6918del (p.Gln2304_Gly2306del)
|
rs796053334
|
|
NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)
|
rs796053335
|
|
NM_001130438.3(SPTAN1):c.6922C>T (p.Arg2308Cys)
|
rs1554768992
|
|
NM_001130438.3(SPTAN1):c.6943C>G (p.Gln2315Glu)
|
rs1554769022
|
|
NM_001130438.3(SPTAN1):c.6959+1G>T
|
|
|
NM_001130438.3(SPTAN1):c.7012A>G (p.Lys2338Glu)
|
rs1554769099
|
|
NM_001130438.3(SPTAN1):c.7161-2_7174del
|
rs2132105386
|
|
NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter)
|
rs2131011877
|
|
NM_001130438.3(SPTAN1):c.917C>T (p.Ala306Val)
|
rs2131012797
|
|
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala)
|
rs397509393
|
|
NM_001130823.3(DNMT1):c.1823T>G (p.Leu608Arg)
|
rs2038416963
|
|
NM_001130823.3(DNMT1):c.4298T>C (p.Met1433Thr)
|
rs1599341718
|
|
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp)
|
rs2145253354
|
|
NM_001134407.3(GRIN2A):c.1001T>A (p.Leu334Ter)
|
rs1555455521
|
|
NM_001134407.3(GRIN2A):c.1007+1G>A
|
rs397518465
|
|
NM_001134407.3(GRIN2A):c.1008-2A>G
|
rs2043686667
|
|
NM_001134407.3(GRIN2A):c.1036A>T (p.Lys346Ter)
|
rs2141482042
|
|
NM_001134407.3(GRIN2A):c.1123-1G>T
|
rs2042854251
|
|
NM_001134407.3(GRIN2A):c.1123-2A>G
|
rs397518469
|
|
NM_001134407.3(GRIN2A):c.1232T>A (p.Leu411Gln)
|
rs2141369514
|
|
NM_001134407.3(GRIN2A):c.1273del (p.Pro424_Leu425insTer)
|
rs879253760
|
|
NM_001134407.3(GRIN2A):c.1306T>C (p.Cys436Arg)
|
rs1555496111
|
|
NM_001134407.3(GRIN2A):c.1328+2T>C
|
rs2042847630
|
|
NM_001134407.3(GRIN2A):c.1328A>G (p.Asn443Ser)
|
rs1596494610
|
|
NM_001134407.3(GRIN2A):c.1329-1G>C
|
|
|
NM_001134407.3(GRIN2A):c.1329-2A>C
|
rs2141346217
|
|
NM_001134407.3(GRIN2A):c.1344_1345insCCTAG (p.Gly449fs)
|
rs2141346061
|
|
NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs)
|
|
|
NM_001134407.3(GRIN2A):c.1373G>A (p.Gly458Glu)
|
|
|
NM_001134407.3(GRIN2A):c.1382T>A (p.Ile461Asn)
|
rs1567337914
|
|
NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg)
|
rs2042667149
|
|
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)
|
rs757713617
|
|
NM_001134407.3(GRIN2A):c.1497+1G>C
|
rs2141344569
|
|
NM_001134407.3(GRIN2A):c.1497+5G>C
|
rs2042665872
|
|
NM_001134407.3(GRIN2A):c.1532C>T (p.Ser511Leu)
|
rs267604688
|
|
NM_001134407.3(GRIN2A):c.1552C>T (p.Arg518Cys)
|
rs747838255
|
|
NM_001134407.3(GRIN2A):c.1553G>A (p.Arg518His)
|
rs397518470
|
|
NM_001134407.3(GRIN2A):c.1585del (p.Val529fs)
|
rs2141342590
|
|
NM_001134407.3(GRIN2A):c.1586del (p.Val529fs)
|
rs2141342580
|
|
NM_001134407.3(GRIN2A):c.1592C>T (p.Thr531Met)
|
rs397518468
|
|
NM_001134407.3(GRIN2A):c.1595G>T (p.Gly532Val)
|
rs1085307961
|
|
NM_001134407.3(GRIN2A):c.1613C>G (p.Ser538Ter)
|
rs2141342254
|
|
NM_001134407.3(GRIN2A):c.1630G>A (p.Val544Ile)
|
rs2141342055
|
|
NM_001134407.3(GRIN2A):c.1642G>A (p.Ala548Thr)
|
rs1057523843
|
|
NM_001134407.3(GRIN2A):c.1642G>C (p.Ala548Pro)
|
rs1057523843
|
|
NM_001134407.3(GRIN2A):c.1651+1del
|
rs2141341804
|
|
NM_001134407.3(GRIN2A):c.1652-2A>G
|
rs2141325752
|
|
NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg)
|
rs397518450
|
|
NM_001134407.3(GRIN2A):c.165G>A (p.Trp55Ter)
|
rs1057521810
|
|
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg)
|
rs1596476657
|
|
NM_001134407.3(GRIN2A):c.1678ATG[1] (p.Met561del)
|
rs1057519248
|
|
NM_001134407.3(GRIN2A):c.1686del (p.Phe562fs)
|
rs2141325598
|
|
NM_001134407.3(GRIN2A):c.1692del (p.Met564fs)
|
rs886039604
|
|
NM_001134407.3(GRIN2A):c.172G>T (p.Glu58Ter)
|
rs143833346
|
|
NM_001134407.3(GRIN2A):c.176_179dup (p.Ala61fs)
|
rs2050235998
|
|
NM_001134407.3(GRIN2A):c.1777+1G>C
|
rs2141325180
|
|
NM_001134407.3(GRIN2A):c.1777+2T>C
|
rs2141325169
|
|
NM_001134407.3(GRIN2A):c.1778-2A>C
|
rs2141313144
|
|
NM_001134407.3(GRIN2A):c.1782_1783insTT (p.His595fs)
|
rs2141313067
|
|
NM_001134407.3(GRIN2A):c.1788_1789insGTG (p.Gly596_Pro597insVal)
|
rs2042451238
|
|
NM_001134407.3(GRIN2A):c.1818G>A (p.Trp606Ter)
|
rs775819322
|
|
NM_001134407.3(GRIN2A):c.1832T>A (p.Leu611Gln)
|
rs2141312803
|
|
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser)
|
rs869312916
|
|
NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys)
|
rs397518447
|
|
NM_001134407.3(GRIN2A):c.1849G>A (p.Val617Met)
|
|
|
NM_001134407.3(GRIN2A):c.1903G>A (p.Ala635Thr)
|
rs2042449005
|
|
NM_001134407.3(GRIN2A):c.1904C>A (p.Ala635Asp)
|
rs2042448930
|
|
NM_001134407.3(GRIN2A):c.1924C>A (p.Leu642Met)
|
rs796052562
|
|
NM_001134407.3(GRIN2A):c.1930A>G (p.Ser644Gly)
|
rs1555492763
|
|
NM_001134407.3(GRIN2A):c.1936A>G (p.Thr646Ala)
|
rs1555492758
|
|
NM_001134407.3(GRIN2A):c.1943A>G (p.Asn648Ser)
|
rs796052545
|
|
NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val)
|
rs397514557
|
|
NM_001134407.3(GRIN2A):c.1946_1947delinsCT (p.Leu649Pro)
|
|
|
NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val)
|
rs397518471
|
|
NM_001134407.3(GRIN2A):c.1957A>G (p.Met653Val)
|
rs2141312286
|
|
NM_001134407.3(GRIN2A):c.1959G>A (p.Met653Ile)
|
rs2141312277
|
|
NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr)
|
rs2042447540
|
|
NM_001134407.3(GRIN2A):c.2007+1G>A
|
rs2141312109
|
|
NM_001134407.3(GRIN2A):c.2007+1G>T
|
|
|
NM_001134407.3(GRIN2A):c.2007+1del
|
rs1596471698
|
|
NM_001134407.3(GRIN2A):c.2007+2dup
|
rs2141312103
|
|
NM_001134407.3(GRIN2A):c.2008-1G>T
|
rs2141295189
|
|
NM_001134407.3(GRIN2A):c.2008-2A>C
|
|
|
NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter)
|
rs397518472
|
|
NM_001134407.3(GRIN2A):c.2042G>A (p.Arg681Gln)
|
rs753203288
|
|
NM_001134407.3(GRIN2A):c.2050A>G (p.Thr684Ala)
|
rs796052547
|
|
NM_001134407.3(GRIN2A):c.2063G>C (p.Gly688Ala)
|
rs2141294973
|
|
NM_001134407.3(GRIN2A):c.2069C>A (p.Thr690Lys)
|
rs1445802934
|
|
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met)
|
rs1445802934
|
|
NM_001134407.3(GRIN2A):c.2075_2116dup (p.Arg692_Met705dup)
|
rs2141294782
|
|
NM_001134407.3(GRIN2A):c.2077A>G (p.Asn693Asp)
|
rs2042303226
|
|
NM_001134407.3(GRIN2A):c.2081T>C (p.Ile694Thr)
|
rs2141294911
|
|
NM_001134407.3(GRIN2A):c.2095C>T (p.Pro699Ser)
|
rs1555491648
|
|
NM_001134407.3(GRIN2A):c.2113A>G (p.Met705Val)
|
rs2141294795
|
|
NM_001134407.3(GRIN2A):c.2138T>G (p.Val713Gly)
|
rs1057518070
|
|
NM_001134407.3(GRIN2A):c.2140del (p.Glu714fs)
|
rs2141294703
|
|
NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr)
|
|
|
NM_001134407.3(GRIN2A):c.2147C>T (p.Ala716Val)
|
|
|
NM_001134407.3(GRIN2A):c.2168+1G>C
|
rs2141294532
|
|
NM_001134407.3(GRIN2A):c.2191G>A (p.Asp731Asn)
|
rs796052549
|
|
NM_001134407.3(GRIN2A):c.2197G>A (p.Ala733Thr)
|
rs796052550
|
|
NM_001134407.3(GRIN2A):c.2253dup (p.Ser752fs)
|
rs2141230698
|
|
NM_001134407.3(GRIN2A):c.2278G>A (p.Gly760Ser)
|
rs1555488119
|
|
NM_001134407.3(GRIN2A):c.2314A>G (p.Lys772Glu)
|
rs1555488094
|
|
NM_001134407.3(GRIN2A):c.2326G>A (p.Asp776Asn)
|
|
|
NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr)
|
rs776791010
|
|
NM_001134407.3(GRIN2A):c.2334_2338del (p.Leu779fs)
|
rs2141230279
|
|
NM_001134407.3(GRIN2A):c.2341_2343delinsAT (p.Gln781fs)
|
rs2141230262
|
|
NM_001134407.3(GRIN2A):c.2356+1G>T
|
rs2141230207
|
|
NM_001134407.3(GRIN2A):c.2357-2A>T
|
|
|
NM_001134407.3(GRIN2A):c.2365GAG[1] (p.Glu790del)
|
|
|
NM_001134407.3(GRIN2A):c.236C>G (p.Pro79Arg)
|
rs1250662891
|
|
NM_001134407.3(GRIN2A):c.2384G>A (p.Trp795Ter)
|
rs1555483728
|
|
NM_001134407.3(GRIN2A):c.2407G>T (p.Glu803Ter)
|
rs1198247451
|
|
NM_001134407.3(GRIN2A):c.2408del (p.Glu803fs)
|
rs2141151209
|
|
NM_001134407.3(GRIN2A):c.2427C>A (p.Ser809Arg)
|
rs1064795647
|
|
NM_001134407.3(GRIN2A):c.2434C>A (p.Leu812Met)
|
rs752241086
|
|
NM_001134407.3(GRIN2A):c.2449A>G (p.Met817Val)
|
rs796052551
|
|
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr)
|
rs1064796608
|
|
NM_001134407.3(GRIN2A):c.2450T>G (p.Met817Arg)
|
rs1064796608
|
|
NM_001134407.3(GRIN2A):c.2452G>A (p.Ala818Thr)
|
rs1555483699
|
|
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu)
|
rs751455326
|
|
NM_001134407.3(GRIN2A):c.2453C>T (p.Ala818Val)
|
rs751455326
|
|
NM_001134407.3(GRIN2A):c.2466C>G (p.Tyr822Ter)
|
|
|
NM_001134407.3(GRIN2A):c.254_261del (p.His85fs)
|
|
|
NM_001134407.3(GRIN2A):c.255_256insCTCATGTCCGGG (p.His85_Val86insLeuMetSerGly)
|
rs2142389389
|
|
NM_001134407.3(GRIN2A):c.2658T>A (p.Asn886Lys)
|
rs1321794341
|
|
NM_001134407.3(GRIN2A):c.292C>T (p.Leu98Phe)
|
rs1596586969
|
|
NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr)
|
rs397518466
|
|
NM_001134407.3(GRIN2A):c.3042G>A (p.Trp1014Ter)
|
rs1306036000
|
|
NM_001134407.3(GRIN2A):c.3219del (p.Glu1073fs)
|
|
|
NM_001134407.3(GRIN2A):c.3426del (p.Glu1143fs)
|
|
|
NM_001134407.3(GRIN2A):c.3881A>T (p.Asn1294Ile)
|
|
|
NM_001134407.3(GRIN2A):c.3G>T (p.Met1Ile)
|
rs868762895
|
|
NM_001134407.3(GRIN2A):c.4067C>G (p.Ser1356Cys)
|
|
|
NM_001134407.3(GRIN2A):c.415-2A>G
|
rs2141633312
|
|
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly)
|
rs869312681
|
|
NM_001134407.3(GRIN2A):c.452_463del (p.Ile151_Ala155delinsThr)
|
rs2141632937
|
|
NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter)
|
rs1057524089
|
|
NM_001134407.3(GRIN2A):c.500G>A (p.Trp167Ter)
|
rs1555455776
|
|
NM_001134407.3(GRIN2A):c.546dup (p.Phe183fs)
|
rs2141632418
|
|
NM_001134407.3(GRIN2A):c.551T>G (p.Ile184Ser)
|
rs2141632382
|
|
NM_001134407.3(GRIN2A):c.594G>A (p.Trp198Ter)
|
rs1555455726
|
|
NM_001134407.3(GRIN2A):c.627del (p.Phe210fs)
|
rs796052560
|
|
NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter)
|
rs387906637
|
|
NM_001134407.3(GRIN2A):c.691T>C (p.Cys231Arg)
|
rs2141631426
|
|
NM_001134407.3(GRIN2A):c.692G>A (p.Cys231Tyr)
|
rs1238779318
|
|
NM_001134407.3(GRIN2A):c.703G>T (p.Glu235Ter)
|
rs2044763223
|
|
NM_001134407.3(GRIN2A):c.728C>T (p.Ala243Val)
|
rs2141631138
|
|
NM_001134407.3(GRIN2A):c.730dup (p.Arg244fs)
|
rs2044762657
|
|
NM_001134407.3(GRIN2A):c.90dup (p.Pro31fs)
|
rs2142390867
|
|
NM_001134407.3(GRIN2A):c.942del (p.Glu315fs)
|
|
|
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys)
|
rs886039429
|
|
NM_001134673.4(NFIA):c.400del (p.Met133_Val134insTer)
|
|
|
NM_001134673.4(NFIA):c.739_740del (p.Ser247fs)
|
|
|
NM_001134673.4(NFIA):c.925G>T (p.Gly309Ter)
|
|
|
NM_001134831.2(AHI1):c.1094dup (p.Met365fs)
|
rs2128081478
|
|
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly)
|
rs1789162289
|
|
NM_001134831.2(AHI1):c.1205del (p.Pro402fs)
|
rs794729195
|
|
NM_001134831.2(AHI1):c.1270del (p.Ile424fs)
|
rs1788846426
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
NM_001134831.2(AHI1):c.1671del (p.Gly558fs)
|
rs2128056526
|
|
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs)
|
rs1786504555
|
|
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs)
|
rs1163874095
|
|
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
|
rs797045223
|
|
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
|
|
|
NM_001134831.2(AHI1):c.2037-1G>C
|
rs1784918128
|
|
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg)
|
rs797045224
|
|
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
|
|
|
NM_001134831.2(AHI1):c.2492+5G>A
|
rs2128012406
|
|
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
|
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter)
|
rs1355690902
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
|
|
|
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
|
|
|
NM_001134831.2(AHI1):c.3426+2T>C
|
|
|
NM_001134831.2(AHI1):c.430del (p.Glu144fs)
|
rs2128098409
|
|
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs)
|
rs780910490
|
|
NM_001134831.2(AHI1):c.917del (p.Lys306fs)
|
rs1181159671
|
|
NM_001135638.2(PIP5K1A):c.1114C>T (p.Arg372Ter)
|
|
|
NM_001136035.4(TRMT1):c.1161_1162del (p.Cys387fs)
|
|
|
NM_001136035.4(TRMT1):c.1487G>A (p.Trp496Ter)
|
rs2145578013
|
|
NM_001136035.4(TRMT1):c.1534C>T (p.Arg512Ter)
|
rs751298016
|
|
NM_001136035.4(TRMT1):c.232C>T (p.Gln78Ter)
|
rs2019344087
|
|
NM_001136035.4(TRMT1):c.24_33del (p.Leu10fs)
|
rs750785552
|
|
NM_001136035.4(TRMT1):c.311-1G>A
|
rs2019322057
|
|
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
|
|
|
NM_001136035.4(TRMT1):c.389_390del (p.Lys130fs)
|
rs868289171
|
|
NM_001144967.3(NEDD4L):c.623G>A (p.Arg208Gln)
|
rs2059194330
|
|
NM_001145073.3(USP27X):c.1205dup (p.Ala403fs)
|
|
|
NM_001145073.3(USP27X):c.394G>T (p.Glu132Ter)
|
|
|
NM_001145073.3(USP27X):c.937T>G (p.Phe313Val)
|
|
|
NM_001145073.3(USP27X):c.954del (p.Lys318fs)
|
|
|
NM_001145250.2(SP9):c.1133A>C (p.Glu378Ala)
|
rs2105510219
|
|
NM_001145250.2(SP9):c.1133A>G (p.Glu378Gly)
|
rs2105510219
|
|
NM_001145358.2(SIN3A):c.1261dup (p.Ser421fs)
|
rs2141486160
|
|
NM_001145358.2(SIN3A):c.1526+1G>T
|
|
|
NM_001145358.2(SIN3A):c.2005C>T (p.Leu669Phe)
|
rs2073302769
|
|
NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His)
|
rs1595897117
|
|
NM_001145358.2(SIN3A):c.2378T>C (p.Leu793Pro)
|
|
|
NM_001145358.2(SIN3A):c.240_252dup (p.His85delinsSerSerTer)
|
|
|
NM_001145358.2(SIN3A):c.2803C>T (p.Arg935Ter)
|
rs2141424841
|
|
NM_001145358.2(SIN3A):c.2809_2810del (p.Lys937fs)
|
rs1555443600
|
|
NM_001145358.2(SIN3A):c.2844_2847del (p.Lys948fs)
|
rs1555443581
|
|
NM_001145358.2(SIN3A):c.2948dup (p.Arg984fs)
|
rs2141415824
|
|
NM_001145358.2(SIN3A):c.3045_3046dup (p.Ile1016fs)
|
rs2141396556
|
|
NM_001145358.2(SIN3A):c.3473dup (p.Asn1158fs)
|
rs2141368718
|
|
NM_001145358.2(SIN3A):c.366+5T>C
|
|
|
NM_001145358.2(SIN3A):c.3785_3791del (p.Tyr1262fs)
|
|
|
NM_001145358.2(SIN3A):c.474-1G>A
|
|
|
NM_001145358.2(SIN3A):c.866C>A (p.Ser289Ter)
|
rs1347764887
|
|
NM_001160372.4(TRAPPC9):c.151C>T (p.Arg51Ter)
|
rs2071449158
|
|
NM_001160372.4(TRAPPC9):c.1623-1G>A
|
|
|
NM_001160372.4(TRAPPC9):c.1675dup (p.Ser559fs)
|
|
|
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
|
|
|
NM_001160372.4(TRAPPC9):c.2173C>T (p.Gln725Ter)
|
|
|
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro)
|
rs2132705299
|
|
NM_001160372.4(TRAPPC9):c.2815dup (p.Ala939fs)
|
|
|
NM_001160372.4(TRAPPC9):c.2890A>G (p.Lys964Glu)
|
rs1357591960
|
|
NM_001160372.4(TRAPPC9):c.2920C>T (p.Arg974Ter)
|
|
|
NM_001161352.2(KCNMA1):c.1054A>G (p.Thr352Ala)
|
rs863224885
|
|
NM_001161352.2(KCNMA1):c.1749+2T>C
|
|
|
NM_001161352.2(KCNMA1):c.1807A>G (p.Thr603Ala)
|
rs2094531972
|
|
NM_001161352.2(KCNMA1):c.1845C>G (p.Phe615Leu)
|
|
|
NM_001161352.2(KCNMA1):c.2092+1G>A
|
rs2090875352
|
|
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser)
|
rs1565091862
|
|
NM_001161352.2(KCNMA1):c.3016+2T>C
|
|
|
NM_001161352.2(KCNMA1):c.3022G>A (p.Asp1008Asn)
|
rs2049489016
|
|
NM_001161352.2(KCNMA1):c.3158A>G (p.Asn1053Ser)
|
rs886039469
|
|
NM_001161352.2(KCNMA1):c.574C>A (p.Leu192Ile)
|
rs2154251764
|
|
NM_001163809.2(WDR81):c.2410C>T (p.Arg804Ter)
|
|
|
NM_001163809.2(WDR81):c.3843C>A (p.Tyr1281Ter)
|
rs2151169266
|
|
NM_001163809.2(WDR81):c.845G>A (p.Gly282Glu)
|
rs730882206
|
|
NM_001164664.2(MAST4):c.2693T>C (p.Ile898Thr)
|
|
|
NM_001164664.2(MAST4):c.7655C>G (p.Ser2552Trp)
|
|
|
NM_001165963.1:c.(3429+1_3430-1)_(4002+1_4003-1)del
|
|
|
NM_001165963.4(SCN1A):c.1006T>C (p.Cys336Arg)
|
|
|
NM_001165963.4(SCN1A):c.1008T>G (p.Cys336Trp)
|
rs1553548096
|
|
NM_001165963.4(SCN1A):c.1025C>A (p.Ala342Glu)
|
rs794726797
|
|
NM_001165963.4(SCN1A):c.1028+1del
|
rs886041980
|
|
NM_001165963.4(SCN1A):c.1028G>C (p.Gly343Ala)
|
rs121918753
|
|
NM_001165963.4(SCN1A):c.1037C>T (p.Pro346Leu)
|
rs2105868295
|
|
NM_001165963.4(SCN1A):c.1046A>G (p.Tyr349Cys)
|
rs794726844
|
|
NM_001165963.4(SCN1A):c.1051T>G (p.Cys351Gly)
|
|
|
NM_001165963.4(SCN1A):c.1052G>C (p.Cys351Ser)
|
rs2105867993
|
|
NM_001165963.4(SCN1A):c.1072C>G (p.Pro358Ala)
|
rs121917923
|
|
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys)
|
rs1574240716
|
|
NM_001165963.4(SCN1A):c.1082G>A (p.Gly361Asp)
|
rs1553547528
|
|
NM_001165963.4(SCN1A):c.1082_1092del (p.Gly361fs)
|
rs2105867534
|
|
NM_001165963.4(SCN1A):c.1111G>C (p.Ala371Pro)
|
rs1698009615
|
|
NM_001165963.4(SCN1A):c.1118T>C (p.Leu373Ser)
|
rs1553547448
|
|
NM_001165963.4(SCN1A):c.1120T>C (p.Ser374Pro)
|
|
|
NM_001165963.4(SCN1A):c.1121C>A (p.Ser374Tyr)
|
rs1698007004
|
|
NM_001165963.4(SCN1A):c.1130G>A (p.Arg377Gln)
|
rs121917957
|
|
NM_001165963.4(SCN1A):c.1130G>C (p.Arg377Pro)
|
|
|
NM_001165963.4(SCN1A):c.1130_1131delinsAC (p.Arg377His)
|
|
|
NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln)
|
rs1698003832
|
|
NM_001165963.4(SCN1A):c.1133del (p.Leu378fs)
|
rs1698004184
|
|
NM_001165963.4(SCN1A):c.1149C>A (p.Phe383Leu)
|
rs121917939
|
|
NM_001165963.4(SCN1A):c.1154A>C (p.Glu385Ala)
|
rs1697999557
|
|
NM_001165963.4(SCN1A):c.1160T>C (p.Leu387Pro)
|
rs1697998959
|
|
NM_001165963.4(SCN1A):c.1163A>G (p.Tyr388Cys)
|
rs1697998080
|
|
NM_001165963.4(SCN1A):c.1169T>C (p.Leu390Pro)
|
rs746413385
|
|
NM_001165963.4(SCN1A):c.1171-1G>A
|
|
|
NM_001165963.4(SCN1A):c.1177C>G (p.Arg393Gly)
|
|
|
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)
|
rs121917927
|
|
NM_001165963.4(SCN1A):c.1181C>T (p.Ala394Val)
|
rs2105862847
|
|
NM_001165963.4(SCN1A):c.1184C>A (p.Ala395Asp)
|
|
|
NM_001165963.4(SCN1A):c.1184C>G (p.Ala395Gly)
|
|
|
NM_001165963.4(SCN1A):c.1198A>G (p.Met400Val)
|
|
|
NM_001165963.4(SCN1A):c.1199T>C (p.Met400Thr)
|
rs794726725
|
|
NM_001165963.4(SCN1A):c.1203_1205del (p.Phe403del)
|
rs2105862483
|
|
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile)
|
rs796053094
|
|
NM_001165963.4(SCN1A):c.1220T>A (p.Ile407Asn)
|
rs398123581
|
|
NM_001165963.4(SCN1A):c.1223del (p.Phe408fs)
|
|
|
NM_001165963.4(SCN1A):c.1229G>T (p.Gly410Val)
|
rs1697904829
|
|
NM_001165963.4(SCN1A):c.1234T>C (p.Phe412Leu)
|
|
|
NM_001165963.4(SCN1A):c.1239C>A (p.Tyr413Ter)
|
|
|
NM_001165963.4(SCN1A):c.1244T>C (p.Ile415Thr)
|
|
|
NM_001165963.4(SCN1A):c.1247A>G (p.Asn416Ser)
|
rs2105862220
|
|
NM_001165963.4(SCN1A):c.1259C>A (p.Ala420Asp)
|
rs794726826
|
|
NM_001165963.4(SCN1A):c.1261G>A (p.Val421Met)
|
rs781507889
|
|
NM_001165963.4(SCN1A):c.1264G>A (p.Val422Met)
|
rs886042528
|
|
NM_001165963.4(SCN1A):c.1277A>G (p.Tyr426Cys)
|
rs796052973
|
|
NM_001165963.4(SCN1A):c.1294G>C (p.Ala432Pro)
|
rs1697892980
|
|
NM_001165963.4(SCN1A):c.1303del (p.Glu435fs)
|
rs2105861548
|
|
NM_001165963.4(SCN1A):c.1337del (p.Gln446fs)
|
|
|
NM_001165963.4(SCN1A):c.1422T>G (p.Ser474Arg)
|
|
|
NM_001165963.4(SCN1A):c.1432_1435del (p.Arg478fs)
|
|
|
NM_001165963.4(SCN1A):c.1465_1480del (p.Ser490fs)
|
rs2105851922
|
|
NM_001165963.4(SCN1A):c.1466T>A (p.Leu489Ter)
|
rs1553545740
|
|
NM_001165963.4(SCN1A):c.149_151del (p.Lys50_Pro51delinsThr)
|
rs1684680680
|
|
NM_001165963.4(SCN1A):c.1574C>T (p.Ser525Phe)
|
rs1697647054
|
|
NM_001165963.4(SCN1A):c.1662+3A>G
|
rs794726773
|
|
NM_001165963.4(SCN1A):c.1663-2A>G
|
rs1085307520
|
|
NM_001165963.4(SCN1A):c.1663-3_1663-2del
|
|
|
NM_001165963.4(SCN1A):c.1685_1688del (p.Ser562fs)
|
|
|
NM_001165963.4(SCN1A):c.1709G>A (p.Ser570Asn)
|
rs1057518703
|
|
NM_001165963.4(SCN1A):c.173G>T (p.Gly58Val)
|
|
|
NM_001165963.4(SCN1A):c.1786A>G (p.Ser596Gly)
|
rs1697479557
|
|
NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs)
|
rs1574217232
|
|
NM_001165963.4(SCN1A):c.1922_1923delinsATC (p.Met641fs)
|
rs1697433995
|
|
NM_001165963.4(SCN1A):c.2020G>C (p.Asp674His)
|
rs1574214734
|
|
NM_001165963.4(SCN1A):c.2020_2023del (p.Asp674fs)
|
rs1553544470
|
|
NM_001165963.4(SCN1A):c.2043+1G>A
|
rs751533302
|
|
NM_001165963.4(SCN1A):c.214_216dup (p.Met72dup)
|
rs1553560740
|
|
NM_001165963.4(SCN1A):c.2167del (p.Thr723fs)
|
|
|
NM_001165963.4(SCN1A):c.2273A>C (p.Lys758Thr)
|
|
|
NM_001165963.4(SCN1A):c.2302C>G (p.Pro768Ala)
|
|
|
NM_001165963.4(SCN1A):c.232G>A (p.Glu78Lys)
|
|
|
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs)
|
rs1553543215
|
|
NM_001165963.4(SCN1A):c.2355G>A (p.Met785Ile)
|
rs2105827770
|
|
NM_001165963.4(SCN1A):c.2363A>T (p.Glu788Val)
|
rs1697134047
|
|
NM_001165963.4(SCN1A):c.2368T>A (p.Tyr790Asn)
|
|
|
NM_001165963.4(SCN1A):c.2369A>G (p.Tyr790Cys)
|
rs121918782
|
|
NM_001165963.4(SCN1A):c.237C>G (p.Asp79Glu)
|
|
|
NM_001165963.4(SCN1A):c.2393_2404del (p.Asn798_Val802delinsIle)
|
rs1697127484
|
|
NM_001165963.4(SCN1A):c.2415+1G>T
|
|
|
NM_001165963.4(SCN1A):c.2415+2T>C
|
rs1574201555
|
|
NM_001165963.4(SCN1A):c.241G>T (p.Asp81Tyr)
|
|
|
NM_001165963.4(SCN1A):c.2429T>A (p.Ile810Asn)
|
rs1696888691
|
|
NM_001165963.4(SCN1A):c.242A>G (p.Asp81Gly)
|
rs1684663181
|
|
NM_001165963.4(SCN1A):c.242A>T (p.Asp81Val)
|
|
|
NM_001165963.4(SCN1A):c.2431T>C (p.Phe811Leu)
|
|
|
NM_001165963.4(SCN1A):c.2432T>C (p.Phe811Ser)
|
|
|
NM_001165963.4(SCN1A):c.2434A>C (p.Thr812Pro)
|
|
|
NM_001165963.4(SCN1A):c.2516T>C (p.Ile839Thr)
|
rs2105817051
|
|
NM_001165963.4(SCN1A):c.251A>G (p.Tyr84Cys)
|
rs121917964
|
|
NM_001165963.4(SCN1A):c.2524C>T (p.Leu842Phe)
|
|
|
NM_001165963.4(SCN1A):c.2542G>T (p.Gly848Ter)
|
rs1553542262
|
|
NM_001165963.4(SCN1A):c.2589+1G>C
|
|
|
NM_001165963.4(SCN1A):c.2589+2dup
|
|
|
NM_001165963.4(SCN1A):c.2589+3A>G
|
rs794726775
|
|
NM_001165963.4(SCN1A):c.2590-3_2601del
|
|
|
NM_001165963.4(SCN1A):c.2618G>C (p.Trp873Ser)
|
|
|
NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys)
|
rs121918623
|
|
NM_001165963.4(SCN1A):c.264+1G>A
|
|
|
NM_001165963.4(SCN1A):c.264+1G>C
|
rs1553560677
|
|
NM_001165963.4(SCN1A):c.264+3G>C
|
rs746440689
|
|
NM_001165963.4(SCN1A):c.264+4_264+7del
|
rs1574370981
|
|
NM_001165963.4(SCN1A):c.264+5G>A
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.265-2143G>A
|
rs1574312497
|
|
NM_001165963.4(SCN1A):c.265-3C>G
|
rs1553553614
|
|
NM_001165963.4(SCN1A):c.265del (p.Thr89fs)
|
rs2105918665
|
|
NM_001165963.4(SCN1A):c.2665G>A (p.Ala889Thr)
|
rs1266877537
|
|
NM_001165963.4(SCN1A):c.2671G>A (p.Gly891Arg)
|
|
|
NM_001165963.4(SCN1A):c.2720T>G (p.Val907Gly)
|
|
|
NM_001165963.4(SCN1A):c.2728C>T (p.Gln910Ter)
|
rs794726721
|
|
NM_001165963.4(SCN1A):c.2729A>G (p.Gln910Arg)
|
rs1064795735
|
|
NM_001165963.4(SCN1A):c.2732T>G (p.Leu911Arg)
|
|
|
NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg)
|
rs2105807206
|
|
NM_001165963.4(SCN1A):c.278T>C (p.Leu93Ser)
|
|
|
NM_001165963.4(SCN1A):c.2791C>A (p.Arg931Ser)
|
rs121918788
|
|
NM_001165963.4(SCN1A):c.2791C>G (p.Arg931Gly)
|
rs121918788
|
|
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)
|
rs794726718
|
|
NM_001165963.4(SCN1A):c.2796G>T (p.Trp932Cys)
|
rs1553541303
|
|
NM_001165963.4(SCN1A):c.2800A>C (p.Met934Leu)
|
|
|
NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg)
|
rs796052987
|
|
NM_001165963.4(SCN1A):c.2806G>C (p.Asp936His)
|
rs796052988
|
|
NM_001165963.4(SCN1A):c.2815del (p.His939fs)
|
|
|
NM_001165963.4(SCN1A):c.2835C>G (p.Phe945Leu)
|
rs1696628056
|
|
NM_001165963.4(SCN1A):c.2847del (p.Cys949fs)
|
|
|
NM_001165963.4(SCN1A):c.2848G>A (p.Gly950Arg)
|
rs2105806431
|
|
NM_001165963.4(SCN1A):c.2851G>A (p.Glu951Lys)
|
|
|
NM_001165963.4(SCN1A):c.2855G>T (p.Trp952Leu)
|
|
|
NM_001165963.4(SCN1A):c.2860G>C (p.Glu954Gln)
|
rs121918786
|
|
NM_001165963.4(SCN1A):c.2861A>G (p.Glu954Gly)
|
|
|
NM_001165963.4(SCN1A):c.2861A>T (p.Glu954Val)
|
rs878854262
|
|
NM_001165963.4(SCN1A):c.2862G>T (p.Glu954Asp)
|
rs1041924436
|
|
NM_001165963.4(SCN1A):c.2863A>T (p.Thr955Ser)
|
rs2105806212
|
|
NM_001165963.4(SCN1A):c.2864C>T (p.Thr955Ile)
|
|
|
NM_001165963.4(SCN1A):c.2867T>C (p.Met956Thr)
|
rs1696619508
|
|
NM_001165963.4(SCN1A):c.2868G>A (p.Met956Ile)
|
rs1553541172
|
|
NM_001165963.4(SCN1A):c.2869T>G (p.Trp957Gly)
|
rs1696618804
|
|
NM_001165963.4(SCN1A):c.2875T>C (p.Cys959Arg)
|
rs121918796
|
|
NM_001165963.4(SCN1A):c.2879T>A (p.Met960Lys)
|
|
|
NM_001165963.4(SCN1A):c.2903G>C (p.Cys968Ser)
|
|
|
NM_001165963.4(SCN1A):c.2904C>G (p.Cys968Trp)
|
rs922757507
|
|
NM_001165963.4(SCN1A):c.2927T>C (p.Met976Thr)
|
rs1057518325
|
|
NM_001165963.4(SCN1A):c.2946+5G>A
|
rs1057520486
|
|
NM_001165963.4(SCN1A):c.2947G>T (p.Val983Phe)
|
rs1553540503
|
|
NM_001165963.4(SCN1A):c.2948T>G (p.Val983Gly)
|
rs121918756
|
|
NM_001165963.4(SCN1A):c.2951T>G (p.Leu984Arg)
|
|
|
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs)
|
rs794729207
|
|
NM_001165963.4(SCN1A):c.295A>G (p.Ile99Val)
|
|
|
NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg)
|
rs1696403356
|
|
NM_001165963.4(SCN1A):c.2970G>C (p.Leu990Phe)
|
rs897883046
|
|
NM_001165963.4(SCN1A):c.2971C>T (p.Leu991Phe)
|
rs1696401617
|
|
NM_001165963.4(SCN1A):c.2975T>C (p.Leu992Pro)
|
rs1696400496
|
|
NM_001165963.4(SCN1A):c.2984T>G (p.Phe995Cys)
|
rs727504138
|
|
NM_001165963.4(SCN1A):c.2994C>A (p.Asp998Glu)
|
rs796052991
|
|
NM_001165963.4(SCN1A):c.2997C>G (p.Asn999Lys)
|
rs1559195296
|
|
NM_001165963.4(SCN1A):c.300C>G (p.Phe100Leu)
|
rs2105918428
|
|
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp)
|
rs121917965
|
|
NM_001165963.4(SCN1A):c.3038_3044del (p.Gln1013fs)
|
|
|
NM_001165963.4(SCN1A):c.313A>T (p.Thr105Ser)
|
|
|
NM_001165963.4(SCN1A):c.314C>A (p.Thr105Asn)
|
|
|
NM_001165963.4(SCN1A):c.323T>A (p.Leu108Gln)
|
rs794726793
|
|
NM_001165963.4(SCN1A):c.3281A>T (p.Lys1094Ile)
|
rs2105794473
|
|
NM_001165963.4(SCN1A):c.335C>T (p.Thr112Ile)
|
rs121918745
|
|
NM_001165963.4(SCN1A):c.338C>G (p.Pro113Arg)
|
rs1553553462
|
|
NM_001165963.4(SCN1A):c.3429+1G>T
|
rs1574166948
|
|
NM_001165963.4(SCN1A):c.3498del (p.Gln1166fs)
|
|
|
NM_001165963.4(SCN1A):c.3526_3530delinsTCTTCAGGTTCTGA (p.Glu1176_Pro1177delinsSerSerGlySerGlu)
|
|
|
NM_001165963.4(SCN1A):c.352A>G (p.Arg118Gly)
|
rs2105917940
|
|
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser)
|
rs121917959
|
|
NM_001165963.4(SCN1A):c.3551-1_3551delinsCT
|
rs2105611998
|
|
NM_001165963.4(SCN1A):c.3551-2A>T
|
rs2105612020
|
|
NM_001165963.4(SCN1A):c.3611G>C (p.Trp1204Ser)
|
rs1559149128
|
|
NM_001165963.4(SCN1A):c.361G>C (p.Ala121Pro)
|
rs1699353976
|
|
NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro)
|
rs121917963
|
|
NM_001165963.4(SCN1A):c.362C>G (p.Ala121Gly)
|
|
|
NM_001165963.4(SCN1A):c.3641T>C (p.Ile1214Thr)
|
rs1692873873
|
|
NM_001165963.4(SCN1A):c.3643G>A (p.Val1215Ile)
|
|
|
NM_001165963.4(SCN1A):c.3661G>A (p.Glu1221Lys)
|
|
|
NM_001165963.4(SCN1A):c.3662A>G (p.Glu1221Gly)
|
rs1692866593
|
|
NM_001165963.4(SCN1A):c.3663G>C (p.Glu1221Asp)
|
|
|
NM_001165963.4(SCN1A):c.3663G>T (p.Glu1221Asp)
|
|
|
NM_001165963.4(SCN1A):c.3676T>G (p.Phe1226Val)
|
rs2105609833
|
|
NM_001165963.4(SCN1A):c.3688C>T (p.Leu1230Phe)
|
rs2105609699
|
|
NM_001165963.4(SCN1A):c.3692G>A (p.Ser1231Asn)
|
|
|
NM_001165963.4(SCN1A):c.3692G>T (p.Ser1231Ile)
|
|
|
NM_001165963.4(SCN1A):c.3695G>T (p.Ser1232Ile)
|
|
|
NM_001165963.4(SCN1A):c.3705+5G>A
|
rs1060502189
|
|
NM_001165963.4(SCN1A):c.3706G>C (p.Ala1236Pro)
|
rs794726770
|
|
NM_001165963.4(SCN1A):c.3712G>A (p.Glu1238Lys)
|
rs750364705
|
|
NM_001165963.4(SCN1A):c.3721T>G (p.Tyr1241Asp)
|
|
|
NM_001165963.4(SCN1A):c.3752T>G (p.Met1251Arg)
|
rs749638533
|
|
NM_001165963.4(SCN1A):c.3793C>A (p.Leu1265Met)
|
|
|
NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr)
|
rs148442069
|
|
NM_001165963.4(SCN1A):c.3817G>C (p.Ala1273Pro)
|
rs398123592
|
|
NM_001165963.4(SCN1A):c.383+5C>G
|
rs1060502185
|
|
NM_001165963.4(SCN1A):c.384-12A>C
|
rs1574291210
|
|
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)
|
rs796053001
|
|
NM_001165963.4(SCN1A):c.3852G>C (p.Trp1284Cys)
|
|
|
NM_001165963.4(SCN1A):c.3862G>T (p.Asp1288Tyr)
|
rs1553531134
|
|
NM_001165963.4(SCN1A):c.3863A>C (p.Asp1288Ala)
|
rs1692543303
|
|
NM_001165963.4(SCN1A):c.3879+5G>T
|
rs796052999
|
|
NM_001165963.4(SCN1A):c.3889dup (p.Val1297fs)
|
rs2105571418
|
|
NM_001165963.4(SCN1A):c.3925C>G (p.Leu1309Val)
|
rs121918801
|
|
NM_001165963.4(SCN1A):c.3926T>C (p.Leu1309Pro)
|
|
|
NM_001165963.4(SCN1A):c.3961_3962del (p.Leu1321fs)
|
|
|
NM_001165963.4(SCN1A):c.3966A>C (p.Arg1322Ser)
|
|
|
NM_001165963.4(SCN1A):c.3968C>T (p.Pro1323Leu)
|
rs1057521746
|
|
NM_001165963.4(SCN1A):c.3976G>A (p.Ala1326Thr)
|
rs121918803
|
|
NM_001165963.4(SCN1A):c.3982T>G (p.Ser1328Ala)
|
|
|
NM_001165963.4(SCN1A):c.3999G>A (p.Met1333Ile)
|
|
|
NM_001165963.4(SCN1A):c.4003-1G>A
|
rs1574007140
|
|
NM_001165963.4(SCN1A):c.4003-4T>G
|
|
|
NM_001165963.4(SCN1A):c.4019T>C (p.Leu1340Pro)
|
rs1691091949
|
|
NM_001165963.4(SCN1A):c.4027G>T (p.Ala1343Ser)
|
rs796053006
|
|
NM_001165963.4(SCN1A):c.4033C>T (p.Pro1345Ser)
|
rs1574006857
|
|
NM_001165963.4(SCN1A):c.4036T>C (p.Ser1346Pro)
|
rs1553525337
|
|
NM_001165963.4(SCN1A):c.4039A>G (p.Ile1347Val)
|
|
|
NM_001165963.4(SCN1A):c.4039A>T (p.Ile1347Phe)
|
|
|
NM_001165963.4(SCN1A):c.4040T>A (p.Ile1347Asn)
|
rs1553525325
|
|
NM_001165963.4(SCN1A):c.4040T>C (p.Ile1347Thr)
|
rs1553525325
|
|
NM_001165963.4(SCN1A):c.4043T>C (p.Met1348Thr)
|
rs1559128483
|
|
NM_001165963.4(SCN1A):c.4048G>A (p.Val1350Met)
|
rs1574006637
|
|
NM_001165963.4(SCN1A):c.4051C>T (p.Leu1351Phe)
|
rs1691082638
|
|
NM_001165963.4(SCN1A):c.4052T>C (p.Leu1351Pro)
|
rs1553525313
|
|
NM_001165963.4(SCN1A):c.4060T>G (p.Cys1354Gly)
|
|
|
NM_001165963.4(SCN1A):c.4081T>G (p.Phe1361Val)
|
|
|
NM_001165963.4(SCN1A):c.4094G>A (p.Gly1365Asp)
|
rs1691073965
|
|
NM_001165963.4(SCN1A):c.4096G>T (p.Val1366Leu)
|
rs121918805
|
|
NM_001165963.4(SCN1A):c.4108G>C (p.Ala1370Pro)
|
rs2105509598
|
|
NM_001165963.4(SCN1A):c.4111G>A (p.Gly1371Ser)
|
|
|
NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp)
|
rs865867764
|
|
NM_001165963.4(SCN1A):c.4112G>T (p.Gly1371Val)
|
rs865867764
|
|
NM_001165963.4(SCN1A):c.4122C>G (p.Tyr1374Ter)
|
|
|
NM_001165963.4(SCN1A):c.4124A>C (p.His1375Pro)
|
|
|
NM_001165963.4(SCN1A):c.4133A>T (p.Asn1378Ile)
|
rs1131691775
|
|
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs)
|
rs1574005699
|
|
NM_001165963.4(SCN1A):c.4169T>C (p.Val1390Ala)
|
|
|
NM_001165963.4(SCN1A):c.416T>G (p.Leu139Trp)
|
rs1553552378
|
|
NM_001165963.4(SCN1A):c.417G>C (p.Leu139Phe)
|
rs1699149959
|
|
NM_001165963.4(SCN1A):c.4216G>T (p.Ala1406Ser)
|
rs1559127505
|
|
NM_001165963.4(SCN1A):c.423C>A (p.Asn141Lys)
|
rs1559249734
|
|
NM_001165963.4(SCN1A):c.4242C>A (p.Asn1414Lys)
|
|
|
NM_001165963.4(SCN1A):c.4245T>A (p.Phe1415Leu)
|
|
|
NM_001165963.4(SCN1A):c.4255G>C (p.Gly1419Arg)
|
|
|
NM_001165963.4(SCN1A):c.4256G>T (p.Gly1419Val)
|
rs373547836
|
|
NM_001165963.4(SCN1A):c.4261G>T (p.Gly1421Trp)
|
|
|
NM_001165963.4(SCN1A):c.4264T>C (p.Tyr1422His)
|
|
|
NM_001165963.4(SCN1A):c.4265A>T (p.Tyr1422Phe)
|
rs121917913
|
|
NM_001165963.4(SCN1A):c.4284+4A>C
|
rs1691026372
|
|
NM_001165963.4(SCN1A):c.4286C>T (p.Ala1429Val)
|
rs2105487145
|
|
NM_001165963.4(SCN1A):c.4309A>G (p.Ile1437Val)
|
|
|
NM_001165963.4(SCN1A):c.4310T>A (p.Ile1437Lys)
|
|
|
NM_001165963.4(SCN1A):c.4324G>T (p.Val1442Phe)
|
rs1690574155
|
|
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)
|
rs1573991676
|
|
NM_001165963.4(SCN1A):c.4338+616G>A
|
rs1366966423
|
|
NM_001165963.4(SCN1A):c.434T>G (p.Met145Arg)
|
rs121918631
|
|
NM_001165963.4(SCN1A):c.4352C>G (p.Pro1451Arg)
|
rs121917945
|
|
NM_001165963.4(SCN1A):c.4352C>T (p.Pro1451Leu)
|
rs121917945
|
|
NM_001165963.4(SCN1A):c.4378T>C (p.Tyr1460His)
|
rs1573984593
|
|
NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)
|
|
|
NM_001165963.4(SCN1A):c.4380T>G (p.Tyr1460Ter)
|
|
|
NM_001165963.4(SCN1A):c.4412C>G (p.Ser1471Cys)
|
|
|
NM_001165963.4(SCN1A):c.4414T>C (p.Phe1472Leu)
|
rs1690331819
|
|
NM_001165963.4(SCN1A):c.4426A>T (p.Asn1476Tyr)
|
|
|
NM_001165963.4(SCN1A):c.4427A>T (p.Asn1476Ile)
|
|
|
NM_001165963.4(SCN1A):c.4428C>G (p.Asn1476Lys)
|
rs1573984110
|
|
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)
|
rs794729200
|
|
NM_001165963.4(SCN1A):c.4475_4476+1del
|
|
|
NM_001165963.4(SCN1A):c.4476+5G>T
|
rs1553522266
|
|
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=)
|
rs1085307730
|
|
NM_001165963.4(SCN1A):c.4477-3T>A
|
rs1690013843
|
|
NM_001165963.4(SCN1A):c.4481G>A (p.Gly1494Glu)
|
rs2105462778
|
|
NM_001165963.4(SCN1A):c.4490A>G (p.Asp1497Gly)
|
|
|
NM_001165963.4(SCN1A):c.4493T>C (p.Ile1498Thr)
|
|
|
NM_001165963.4(SCN1A):c.4525A>C (p.Asn1509His)
|
rs1690003122
|
|
NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val)
|
rs796053019
|
|
NM_001165963.4(SCN1A):c.4540T>A (p.Leu1514Ile)
|
|
|
NM_001165963.4(SCN1A):c.4541T>C (p.Leu1514Ser)
|
rs121918764
|
|
NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr)
|
rs796053021
|
|
NM_001165963.4(SCN1A):c.4556C>G (p.Pro1519Arg)
|
rs372425457
|
|
NM_001165963.4(SCN1A):c.4563_4581+39del
|
rs1559114202
|
|
NM_001165963.4(SCN1A):c.4581+18A>G
|
rs1689981394
|
|
NM_001165963.4(SCN1A):c.4581+5G>C
|
rs1559114303
|
|
NM_001165963.4(SCN1A):c.4582-2A>G
|
rs2105449932
|
|
NM_001165963.4(SCN1A):c.4585A>T (p.Lys1529Ter)
|
|
|
NM_001165963.4(SCN1A):c.4601T>A (p.Val1534Asp)
|
rs2105449751
|
|
NM_001165963.4(SCN1A):c.4630G>A (p.Asp1544Asn)
|
|
|
NM_001165963.4(SCN1A):c.4634T>A (p.Ile1545Lys)
|
rs2105449347
|
|
NM_001165963.4(SCN1A):c.4634T>C (p.Ile1545Thr)
|
|
|
NM_001165963.4(SCN1A):c.4664T>G (p.Met1555Arg)
|
|
|
NM_001165963.4(SCN1A):c.4681G>A (p.Glu1561Lys)
|
rs796053024
|
|
NM_001165963.4(SCN1A):c.4682A>G (p.Glu1561Gly)
|
rs1573964264
|
|
NM_001165963.4(SCN1A):c.471_473+6del
|
|
|
NM_001165963.4(SCN1A):c.472G>C (p.Glu158Gln)
|
rs796053090
|
|
NM_001165963.4(SCN1A):c.4752_4753del (p.Thr1585fs)
|
rs2105448260
|
|
NM_001165963.4(SCN1A):c.4759G>C (p.Glu1587Gln)
|
|
|
NM_001165963.4(SCN1A):c.4775T>C (p.Leu1592Pro)
|
rs1689684958
|
|
NM_001165963.4(SCN1A):c.4778T>A (p.Ile1593Asn)
|
|
|
NM_001165963.4(SCN1A):c.4780T>C (p.Ser1594Pro)
|
rs2105447944
|
|
NM_001165963.4(SCN1A):c.4786C>A (p.Arg1596Ser)
|
|
|
NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)
|
rs121917993
|
|
NM_001165963.4(SCN1A):c.4787G>A (p.Arg1596His)
|
rs575368466
|
|
NM_001165963.4(SCN1A):c.479C>A (p.Thr160Asn)
|
rs1698961617
|
|
NM_001165963.4(SCN1A):c.4814A>T (p.Asn1605Ile)
|
rs1057519533
|
|
NM_001165963.4(SCN1A):c.4822G>T (p.Asp1608Tyr)
|
rs121917915
|
|
NM_001165963.4(SCN1A):c.4852G>A (p.Gly1618Ser)
|
rs2105447216
|
|
NM_001165963.4(SCN1A):c.4858T>C (p.Phe1620Leu)
|
rs1689381070
|
|
NM_001165963.4(SCN1A):c.485C>T (p.Thr162Ile)
|
rs1698960532
|
|
NM_001165963.4(SCN1A):c.4860T>A (p.Phe1620Leu)
|
rs2105435603
|
|
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)
|
rs1573953706
|
|
NM_001165963.4(SCN1A):c.4867G>C (p.Glu1623Gln)
|
|
|
NM_001165963.4(SCN1A):c.4880A>T (p.Lys1627Met)
|
|
|
NM_001165963.4(SCN1A):c.4889T>C (p.Val1630Ala)
|
|
|
NM_001165963.4(SCN1A):c.4906C>G (p.Arg1636Gly)
|
|
|
NM_001165963.4(SCN1A):c.4907G>C (p.Arg1636Pro)
|
|
|
NM_001165963.4(SCN1A):c.4907G>T (p.Arg1636Leu)
|
|
|
NM_001165963.4(SCN1A):c.4915C>T (p.Arg1639Cys)
|
|
|
NM_001165963.4(SCN1A):c.4924A>G (p.Arg1642Gly)
|
|
|
NM_001165963.4(SCN1A):c.493T>C (p.Tyr165His)
|
rs1553551493
|
|
NM_001165963.4(SCN1A):c.494A>G (p.Tyr165Cys)
|
|
|
NM_001165963.4(SCN1A):c.4963G>A (p.Gly1655Arg)
|
rs1689350809
|
|
NM_001165963.4(SCN1A):c.4963G>T (p.Gly1655Trp)
|
|
|
NM_001165963.4(SCN1A):c.4964G>C (p.Gly1655Ala)
|
rs1553520439
|
|
NM_001165963.4(SCN1A):c.4969C>A (p.Arg1657Ser)
|
|
|
NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His)
|
rs121917994
|
|
NM_001165963.4(SCN1A):c.4970G>T (p.Arg1657Leu)
|
|
|
NM_001165963.4(SCN1A):c.4972A>C (p.Thr1658Pro)
|
rs1064794766
|
|
NM_001165963.4(SCN1A):c.4972A>T (p.Thr1658Ser)
|
rs1064794766
|
|
NM_001165963.4(SCN1A):c.4972_4973delinsTA (p.Thr1658Ter)
|
|
|
NM_001165963.4(SCN1A):c.4973C>T (p.Thr1658Met)
|
rs121917922
|
|
NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser)
|
rs1553520425
|
|
NM_001165963.4(SCN1A):c.4991T>C (p.Met1664Thr)
|
rs121918765
|
|
NM_001165963.4(SCN1A):c.4995G>A (p.Met1665Ile)
|
rs796053031
|
|
NM_001165963.4(SCN1A):c.4996T>A (p.Ser1666Thr)
|
|
|
NM_001165963.4(SCN1A):c.4997C>T (p.Ser1666Phe)
|
rs794726760
|
|
NM_001165963.4(SCN1A):c.5017A>G (p.Ile1673Val)
|
rs375651364
|
|
NM_001165963.4(SCN1A):c.5023C>T (p.Leu1675Phe)
|
|
|
NM_001165963.4(SCN1A):c.5036T>C (p.Leu1679Pro)
|
rs2105433264
|
|
NM_001165963.4(SCN1A):c.5053G>A (p.Ala1685Thr)
|
|
|
NM_001165963.4(SCN1A):c.505T>C (p.Ser169Pro)
|
rs796052957
|
|
NM_001165963.4(SCN1A):c.5066T>C (p.Met1689Thr)
|
|
|
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)
|
rs121918778
|
|
NM_001165963.4(SCN1A):c.5080T>G (p.Tyr1694Asp)
|
rs2105432780
|
|
NM_001165963.4(SCN1A):c.5111T>C (p.Met1704Thr)
|
rs1689298888
|
|
NM_001165963.4(SCN1A):c.5114_5115delinsGT (p.Phe1705Cys)
|
rs1689298277
|
|
NM_001165963.4(SCN1A):c.5126C>T (p.Thr1709Ile)
|
rs121918629
|
|
NM_001165963.4(SCN1A):c.5129T>C (p.Phe1710Ser)
|
rs1689294239
|
|
NM_001165963.4(SCN1A):c.5134A>G (p.Asn1712Asp)
|
|
|
NM_001165963.4(SCN1A):c.5136C>G (p.Asn1712Lys)
|
rs2105432013
|
|
NM_001165963.4(SCN1A):c.5173G>A (p.Gly1725Ser)
|
rs1689280236
|
|
NM_001165963.4(SCN1A):c.5174G>A (p.Gly1725Asp)
|
rs1553520318
|
|
NM_001165963.4(SCN1A):c.5176T>A (p.Trp1726Arg)
|
|
|
NM_001165963.4(SCN1A):c.5177G>A (p.Trp1726Ter)
|
|
|
NM_001165963.4(SCN1A):c.5179G>T (p.Asp1727Tyr)
|
rs1689278461
|
|
NM_001165963.4(SCN1A):c.5180A>G (p.Asp1727Gly)
|
rs1689278062
|
|
NM_001165963.4(SCN1A):c.5182G>A (p.Gly1728Arg)
|
rs1238612161
|
|
NM_001165963.4(SCN1A):c.5215C>T (p.Pro1739Ser)
|
rs1689271992
|
|
NM_001165963.4(SCN1A):c.5218G>C (p.Asp1740His)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5218G>T (p.Asp1740Tyr)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5221T>A (p.Cys1741Ser)
|
|
|
NM_001165963.4(SCN1A):c.5224G>T (p.Asp1742Tyr)
|
rs528239871
|
|
NM_001165963.4(SCN1A):c.5249del (p.Ser1750fs)
|
rs2105430494
|
|
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)
|
rs796053036
|
|
NM_001165963.4(SCN1A):c.5266T>C (p.Cys1756Arg)
|
|
|
NM_001165963.4(SCN1A):c.5288_5289delinsCCCATCTG (p.Ile1763delinsThrHisLeu)
|
rs1573948129
|
|
NM_001165963.4(SCN1A):c.5299G>T (p.Val1767Phe)
|
|
|
NM_001165963.4(SCN1A):c.5308A>T (p.Ile1770Phe)
|
rs1573947939
|
|
NM_001165963.4(SCN1A):c.5324T>C (p.Leu1775Pro)
|
rs2105429381
|
|
NM_001165963.4(SCN1A):c.5344A>G (p.Ile1782Val)
|
|
|
NM_001165963.4(SCN1A):c.5351T>C (p.Val1784Ala)
|
rs1057518671
|
|
NM_001165963.4(SCN1A):c.5383G>C (p.Glu1795Gln)
|
rs121918813
|
|
NM_001165963.4(SCN1A):c.5422_5430del (p.Phe1808_Glu1810del)
|
rs2105428012
|
|
NM_001165963.4(SCN1A):c.5435G>T (p.Trp1812Leu)
|
|
|
NM_001165963.4(SCN1A):c.5443T>C (p.Phe1815Leu)
|
rs1689211960
|
|
NM_001165963.4(SCN1A):c.5501C>T (p.Ala1834Val)
|
rs780809852
|
|
NM_001165963.4(SCN1A):c.5546T>C (p.Leu1849Pro)
|
rs1689186812
|
|
NM_001165963.4(SCN1A):c.5554A>G (p.Met1852Val)
|
|
|
NM_001165963.4(SCN1A):c.557T>C (p.Leu186Pro)
|
rs1559245847
|
|
NM_001165963.4(SCN1A):c.5581C>T (p.Arg1861Trp)
|
rs760906812
|
|
NM_001165963.4(SCN1A):c.5582G>A (p.Arg1861Gln)
|
rs796053042
|
|
NM_001165963.4(SCN1A):c.5597A>G (p.Asp1866Gly)
|
rs1553520029
|
|
NM_001165963.4(SCN1A):c.5621G>A (p.Arg1874Gln)
|
rs1060502186
|
|
NM_001165963.4(SCN1A):c.5624_5630del (p.Val1875fs)
|
rs2105425236
|
|
NM_001165963.4(SCN1A):c.563A>T (p.Asp188Val)
|
rs121917953
|
|
NM_001165963.4(SCN1A):c.5657G>A (p.Arg1886Gln)
|
rs1559100385
|
|
NM_001165963.4(SCN1A):c.566del (p.Pro189fs)
|
rs1553551385
|
|
NM_001165963.4(SCN1A):c.5756C>G (p.Ala1919Gly)
|
rs1689142827
|
|
NM_001165963.4(SCN1A):c.5767C>A (p.Gln1923Lys)
|
rs1553519865
|
|
NM_001165963.4(SCN1A):c.5768A>C (p.Gln1923Pro)
|
rs1689139851
|
|
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His)
|
rs2105423415
|
|
NM_001165963.4(SCN1A):c.5781_5782delinsTG (p.Arg1927_Arg1928delinsSerGly)
|
rs1689136140
|
|
NM_001165963.4(SCN1A):c.602+1del
|
rs2105901693
|
|
NM_001165963.4(SCN1A):c.602+2dup
|
rs796053054
|
|
NM_001165963.4(SCN1A):c.602+3_602+6del
|
rs1698937795
|
|
NM_001165963.4(SCN1A):c.602C>T (p.Ala201Val)
|
rs1553551312
|
|
NM_001165963.4(SCN1A):c.606C>A (p.Tyr202Ter)
|
rs374555589
|
|
NM_001165963.4(SCN1A):c.626T>G (p.Leu209Arg)
|
|
|
NM_001165963.4(SCN1A):c.629G>A (p.Gly210Asp)
|
rs1698747852
|
|
NM_001165963.4(SCN1A):c.650C>T (p.Thr217Ile)
|
|
|
NM_001165963.4(SCN1A):c.662T>C (p.Leu221Pro)
|
rs796052961
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
NM_001165963.4(SCN1A):c.673A>G (p.Lys225Glu)
|
rs1574271827
|
|
NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr)
|
rs121917937
|
|
NM_001165963.4(SCN1A):c.682T>C (p.Ser228Pro)
|
rs1057519530
|
|
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu)
|
rs1574271644
|
|
NM_001165963.4(SCN1A):c.695-2A>G
|
rs2105890879
|
|
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr)
|
rs886039464
|
|
NM_001165963.4(SCN1A):c.709G>C (p.Val237Leu)
|
|
|
NM_001165963.4(SCN1A):c.725A>G (p.Gln242Arg)
|
rs1574266328
|
|
NM_001165963.4(SCN1A):c.727T>C (p.Ser243Pro)
|
|
|
NM_001165963.4(SCN1A):c.751A>T (p.Met251Leu)
|
rs2105890375
|
|
NM_001165963.4(SCN1A):c.752T>G (p.Met251Arg)
|
rs1553549834
|
|
NM_001165963.4(SCN1A):c.754A>C (p.Ile252Leu)
|
|
|
NM_001165963.4(SCN1A):c.758T>C (p.Leu253Pro)
|
rs2105890296
|
|
NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg)
|
rs121918735
|
|
NM_001165963.4(SCN1A):c.788T>C (p.Leu263Pro)
|
rs1698602170
|
|
NM_001165963.4(SCN1A):c.797T>C (p.Leu266Pro)
|
rs1559238432
|
|
NM_001165963.4(SCN1A):c.811G>A (p.Gly271Ser)
|
rs2105889878
|
|
NM_001165963.4(SCN1A):c.812G>T (p.Gly271Val)
|
rs2105889854
|
|
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr)
|
rs1574264920
|
|
NM_001165963.4(SCN1A):c.833T>A (p.Ile278Lys)
|
rs1559238215
|
|
NM_001165963.4(SCN1A):c.940T>C (p.Trp314Arg)
|
rs2105888708
|
|
NM_001165963.4(SCN1A):c.941G>A (p.Trp314Ter)
|
rs1698574524
|
|
NM_001165963.4(SCN1A):c.942G>C (p.Trp314Cys)
|
rs1553549471
|
|
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys)
|
rs1553549471
|
|
NM_001165963.4(SCN1A):c.949T>C (p.Tyr317His)
|
rs1553549461
|
|
NM_001165963.4(SCN1A):c.965-1G>A
|
rs794726824
|
|
NM_001165963.4(SCN1A):c.971ATT[1] (p.Tyr325del)
|
rs1553548194
|
|
NM_001165963.4(SCN1A):c.982del (p.Glu328fs)
|
rs2105874493
|
|
NM_001165963.4(SCN1A):c.986G>A (p.Gly329Asp)
|
rs779184118
|
|
NM_001165963.4(SCN1A):c.986G>C (p.Gly329Ala)
|
rs779184118
|
|
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)
|
rs779184118
|
|
NM_001165963.4(SCN1A):c.997G>A (p.Ala333Thr)
|
rs2105874284
|
|
NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala)
|
rs1057518936
|
|
NM_001170629.2(CHD8):c.3308G>T (p.Gly1103Val)
|
rs1064795655
|
|
NM_001170629.2(CHD8):c.3519-2A>G
|
rs1594344233
|
|
NM_001171613.2(PREPL):c.1827+5G>A
|
rs1672986669
|
|
NM_001172509.2(SATB2):c.1016del (p.Phe339fs)
|
|
|
NM_001172509.2(SATB2):c.1022_1029del (p.Asn341fs)
|
|
|
NM_001172509.2(SATB2):c.1105_1106insT (p.Arg369fs)
|
|
|
NM_001172509.2(SATB2):c.1166G>A (p.Arg389His)
|
|
|
NM_001172509.2(SATB2):c.1169C>T (p.Thr390Ile)
|
rs863224917
|
|
NM_001172509.2(SATB2):c.1172A>C (p.Gln391Pro)
|
rs2105822776
|
|
NM_001172509.2(SATB2):c.1174G>C (p.Gly392Arg)
|
rs1688108689
|
|
NM_001172509.2(SATB2):c.1195C>T (p.Arg399Cys)
|
rs1574511051
|
|
NM_001172509.2(SATB2):c.1196G>C (p.Arg399Pro)
|
rs1057518190
|
|
NM_001172509.2(SATB2):c.1218_1221del (p.Ala407fs)
|
rs1574510975
|
|
NM_001172509.2(SATB2):c.1226A>G (p.Gln409Arg)
|
|
|
NM_001172509.2(SATB2):c.1226_1234del (p.Gln409_Leu411del)
|
|
|
NM_001172509.2(SATB2):c.1244T>C (p.Leu415Pro)
|
rs2105795469
|
|
NM_001172509.2(SATB2):c.1298A>C (p.Tyr433Ser)
|
rs1688103993
|
|
NM_001172509.2(SATB2):c.1307A>T (p.Glu436Val)
|
rs1688103803
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys)
|
rs1223371144
|
|
NM_001172509.2(SATB2):c.1624dup (p.Arg542fs)
|
|
|
NM_001172509.2(SATB2):c.170-2A>G
|
|
|
NM_001172509.2(SATB2):c.1741-2A>C
|
|
|
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs)
|
rs1692192971
|
|
NM_001172509.2(SATB2):c.1861A>T (p.Ile621Phe)
|
rs1692190479
|
|
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)
|
rs1553538919
|
|
NM_001172509.2(SATB2):c.473+1G>A
|
|
|
NM_001172509.2(SATB2):c.597+1G>A
|
rs1559016679
|
|
NM_001172509.2(SATB2):c.598-2A>G
|
rs1574554519
|
|
NM_001172509.2(SATB2):c.630T>G (p.Tyr210Ter)
|
rs2105850080
|
|
NM_001172509.2(SATB2):c.642_643dup (p.Ser215fs)
|
|
|
NM_001172509.2(SATB2):c.665T>C (p.Phe222Ser)
|
|
|
NM_001172509.2(SATB2):c.700+1G>A
|
|
|
NM_001172509.2(SATB2):c.700G>A (p.Val234Met)
|
|
|
NM_001172509.2(SATB2):c.75del (p.Pro26fs)
|
rs1574645416
|
|
NM_001172509.2(SATB2):c.805G>T (p.Glu269Ter)
|
|
|
NM_001172509.2(SATB2):c.823C>T (p.Gln275Ter)
|
rs1688736712
|
|
NM_001172509.2(SATB2):c.866T>G (p.Leu289Ter)
|
|
|
NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter)
|
rs1574532452
|
|
NM_001172509.2(SATB2):c.955C>T (p.Gln319Ter)
|
|
|
NM_001173976.2(TCTN1):c.1011-2_1012del
|
|
|
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
|
|
|
NM_001173990.3(TMEM216):c.137-1G>A
|
rs1554972547
|
|
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs)
|
rs1554972556
|
|
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=)
|
rs541666319
|
|
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His)
|
rs201108965
|
|
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
|
|
|
NM_001173990.3(TMEM216):c.228del (p.Phe76fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs)
|
rs767384710
|
|
NM_001173990.3(TMEM216):c.229+1G>A
|
rs2135191306
|
|
NM_001173990.3(TMEM216):c.229+1G>C
|
|
|
NM_001173990.3(TMEM216):c.230-2A>G
|
rs1211592806
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
|
|
|
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs)
|
rs1554972958
|
|
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter)
|
rs147267631
|
|
NM_001173990.3(TMEM216):c.34+1G>A
|
|
|
NM_001173990.3(TMEM216):c.35-13_36del
|
rs1057520085
|
|
NM_001173990.3(TMEM216):c.67del (p.Leu23fs)
|
rs1565088283
|
|
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
|
|
|
NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)
|
|
|
NM_001174150.2(ARL13B):c.59+1G>A
|
|
|
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)
|
rs121912608
|
|
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His)
|
rs764109067
|
|
NM_001174150.2(ARL13B):c.801del (p.Asn267fs)
|
|
|
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)
|
rs752472169
|
|
NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)
|
|
|
NM_001182.5(ALDH7A1):c.1171G>T (p.Glu391Ter)
|
|
|
NM_001182.5(ALDH7A1):c.1192G>A (p.Gly398Arg)
|
rs1347421419
|
|
NM_001182.5(ALDH7A1):c.1301_1302del (p.Tyr434fs)
|
rs753671880
|
|
NM_001182.5(ALDH7A1):c.1318-1G>C
|
rs1258470290
|
|
NM_001182.5(ALDH7A1):c.1375A>T (p.Ile459Phe)
|
rs186558364
|
|
NM_001182.5(ALDH7A1):c.1408T>G (p.Trp470Gly)
|
|
|
NM_001182.5(ALDH7A1):c.1435G>A (p.Gly479Ser)
|
|
|
NM_001182.5(ALDH7A1):c.1439T>C (p.Ile480Thr)
|
rs886059849
|
|
NM_001182.5(ALDH7A1):c.1481G>C (p.Gly494Ala)
|
|
|
NM_001182.5(ALDH7A1):c.1490-1G>A
|
|
|
NM_001182.5(ALDH7A1):c.1578_1582del (p.Tyr526_Lys528delinsTer)
|
|
|
NM_001182.5(ALDH7A1):c.1597del (p.Ala533fs)
|
rs387906574
|
|
NM_001182.5(ALDH7A1):c.187G>T (p.Gly63Ter)
|
rs760636660
|
|
NM_001182.5(ALDH7A1):c.192G>C (p.Glu64Asp)
|
rs1581409051
|
|
NM_001182.5(ALDH7A1):c.247-1G>C
|
rs1060502949
|
|
NM_001182.5(ALDH7A1):c.263_264del (p.Asp87_Tyr88insTer)
|
|
|
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs)
|
rs758414053
|
|
NM_001182.5(ALDH7A1):c.316C>A (p.Pro106Thr)
|
|
|
NM_001182.5(ALDH7A1):c.365G>A (p.Arg122Gln)
|
rs796052256
|
|
NM_001182.5(ALDH7A1):c.393+1G>A
|
rs2112804344
|
|
NM_001182.5(ALDH7A1):c.394-1G>C
|
rs1064794053
|
|
NM_001182.5(ALDH7A1):c.394-2A>G
|
rs1450133957
|
|
NM_001182.5(ALDH7A1):c.39_192+517del
|
|
|
NM_001182.5(ALDH7A1):c.427G>C (p.Gly143Arg)
|
|
|
NM_001182.5(ALDH7A1):c.428G>C (p.Gly143Ala)
|
|
|
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val)
|
rs375491094
|
|
NM_001182.5(ALDH7A1):c.517+5G>A
|
|
|
NM_001182.5(ALDH7A1):c.518-14_518delinsCA
|
|
|
NM_001182.5(ALDH7A1):c.518-2A>G
|
|
|
NM_001182.5(ALDH7A1):c.586T>A (p.Phe196Ile)
|
|
|
NM_001182.5(ALDH7A1):c.651-2A>G
|
|
|
NM_001182.5(ALDH7A1):c.697ATA[3] (p.Ile234_Ala235insIle)
|
|
|
NM_001182.5(ALDH7A1):c.76_82del (p.Ala26fs)
|
rs1373022366
|
|
NM_001182.5(ALDH7A1):c.774-2A>G
|
|
|
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter)
|
rs1204010423
|
|
NM_001182.5(ALDH7A1):c.872-1G>T
|
|
|
NM_001182.5(ALDH7A1):c.898A>G (p.Asn300Asp)
|
rs1750388096
|
|
NM_001182.5(ALDH7A1):c.902A>G (p.Asn301Ser)
|
rs121912711
|
|
NM_001182.5(ALDH7A1):c.914-2A>C
|
rs1581368665
|
|
NM_001182.5(ALDH7A1):c.916T>A (p.Phe306Ile)
|
rs2112768468
|
|
NM_001182.5(ALDH7A1):c.973A>G (p.Thr325Ala)
|
rs2112768333
|
|
NM_001182.5(ALDH7A1):c.983A>G (p.Gln328Arg)
|
|
|
NM_001182.5(ALDH7A1):c.985A>T (p.Arg329Trp)
|
|
|
NM_001182.5(ALDH7A1):c.986G>C (p.Arg329Thr)
|
|
|
NM_001182.5(ALDH7A1):c.987G>T (p.Arg329Ser)
|
rs761295869
|
|
NM_001182.5(ALDH7A1):c.992C>A (p.Thr331Asn)
|
|
|
NM_001184880.1(PCDH19):c.79_2616+17371del
|
|
|
NM_001184880.2(PCDH19):c.1019A>C (p.Asn340Thr)
|
rs796052839
|
|
NM_001184880.2(PCDH19):c.1030C>G (p.Pro344Ala)
|
|
|
NM_001184880.2(PCDH19):c.1031C>A (p.Pro344Gln)
|
rs796052811
|
|
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)
|
rs796052811
|
|
NM_001184880.2(PCDH19):c.1078G>A (p.Glu360Lys)
|
|
|
NM_001184880.2(PCDH19):c.1105G>C (p.Ala369Pro)
|
rs1602636688
|
|
NM_001184880.2(PCDH19):c.1114C>T (p.Arg372Trp)
|
rs796052812
|
|
NM_001184880.2(PCDH19):c.1123G>A (p.Asp375Asn)
|
rs1928407580
|
|
NM_001184880.2(PCDH19):c.1178C>T (p.Pro393Leu)
|
|
|
NM_001184880.2(PCDH19):c.1206del (p.Ser403fs)
|
|
|
NM_001184880.2(PCDH19):c.1335C>A (p.Asp445Glu)
|
rs796052815
|
|
NM_001184880.2(PCDH19):c.1342G>T (p.Asp448Tyr)
|
rs1569314809
|
|
NM_001184880.2(PCDH19):c.1343A>G (p.Asp448Gly)
|
rs1928395285
|
|
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly)
|
rs1602636096
|
|
NM_001184880.2(PCDH19):c.1469A>C (p.Tyr490Ser)
|
rs1555985142
|
|
NM_001184880.2(PCDH19):c.1469A>G (p.Tyr490Cys)
|
rs1555985142
|
|
NM_001184880.2(PCDH19):c.1556del (p.Arg519fs)
|
rs2147538465
|
|
NM_001184880.2(PCDH19):c.1639G>C (p.Ala547Pro)
|
rs1928375454
|
|
NM_001184880.2(PCDH19):c.1671C>G (p.Asn557Lys)
|
rs267606933
|
|
NM_001184880.2(PCDH19):c.1672G>C (p.Asp558His)
|
rs748611349
|
|
NM_001184880.2(PCDH19):c.1682del (p.Pro561fs)
|
rs1602635656
|
|
NM_001184880.2(PCDH19):c.1762A>C (p.Thr588Pro)
|
rs2147537859
|
|
NM_001184880.2(PCDH19):c.1786G>T (p.Asp596Tyr)
|
rs1928365978
|
|
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly)
|
rs2147537831
|
|
NM_001184880.2(PCDH19):c.1815C>G (p.Tyr605Ter)
|
rs1057521256
|
|
NM_001184880.2(PCDH19):c.1919T>C (p.Leu640Pro)
|
rs1928358562
|
|
NM_001184880.2(PCDH19):c.1919T>G (p.Leu640Arg)
|
rs1928358562
|
|
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly)
|
rs1602635282
|
|
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu)
|
rs1602635261
|
|
NM_001184880.2(PCDH19):c.1960G>C (p.Ala654Pro)
|
rs1928356260
|
|
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del)
|
rs1602638228
|
|
NM_001184880.2(PCDH19):c.2616+1G>A
|
rs1602632270
|
|
NM_001184880.2(PCDH19):c.2675+1G>T
|
|
|
NM_001184880.2(PCDH19):c.2675+2T>C
|
|
|
NM_001184880.2(PCDH19):c.268G>C (p.Asp90His)
|
rs1555985780
|
|
NM_001184880.2(PCDH19):c.269A>G (p.Asp90Gly)
|
rs2147542320
|
|
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter)
|
rs2147485081
|
|
NM_001184880.2(PCDH19):c.274dup (p.Leu92fs)
|
rs2147542293
|
|
NM_001184880.2(PCDH19):c.3057dup (p.Lys1020fs)
|
rs1924620442
|
|
NM_001184880.2(PCDH19):c.317T>A (p.Met106Lys)
|
|
|
NM_001184880.2(PCDH19):c.3187del (p.Ser1063fs)
|
rs2147445956
|
|
NM_001184880.2(PCDH19):c.371A>C (p.Asp124Ala)
|
rs2147542056
|
|
NM_001184880.2(PCDH19):c.416C>T (p.Ser139Leu)
|
rs1555985687
|
|
NM_001184880.2(PCDH19):c.437C>G (p.Thr146Arg)
|
rs796052799
|
|
NM_001184880.2(PCDH19):c.437C>T (p.Thr146Met)
|
|
|
NM_001184880.2(PCDH19):c.445C>G (p.Pro149Ala)
|
rs1928459143
|
|
NM_001184880.2(PCDH19):c.457_458delinsAT (p.Ala153Ile)
|
rs863224907
|
|
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter)
|
rs1569315876
|
|
NM_001184880.2(PCDH19):c.498del (p.Thr165_Tyr166insTer)
|
rs2147541733
|
|
NM_001184880.2(PCDH19):c.592C>G (p.Arg198Gly)
|
rs2147541358
|
|
NM_001184880.2(PCDH19):c.595G>C (p.Glu199Gln)
|
|
|
NM_001184880.2(PCDH19):c.602A>C (p.Gln201Pro)
|
rs1928446616
|
|
NM_001184880.2(PCDH19):c.612C>A (p.Tyr204Ter)
|
rs1602637608
|
|
NM_001184880.2(PCDH19):c.695A>T (p.Asn232Ile)
|
rs587784299
|
|
NM_001184880.2(PCDH19):c.700A>G (p.Asn234Asp)
|
rs1928438552
|
|
NM_001184880.2(PCDH19):c.707C>T (p.Pro236Leu)
|
rs1060502176
|
|
NM_001184880.2(PCDH19):c.745G>C (p.Glu249Gln)
|
rs1602637340
|
|
NM_001184880.2(PCDH19):c.747A>C (p.Glu249Asp)
|
rs2147540748
|
|
NM_001184880.2(PCDH19):c.779T>G (p.Leu260Arg)
|
rs1928431321
|
|
NM_001184880.2(PCDH19):c.790G>C (p.Asp264His)
|
rs587784300
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
NM_001184880.2(PCDH19):c.799G>A (p.Glu267Lys)
|
rs1057524751
|
|
NM_001184880.2(PCDH19):c.810C>G (p.Asn270Lys)
|
|
|
NM_001184880.2(PCDH19):c.83C>A (p.Ser28Ter)
|
rs766962106
|
|
NM_001184880.2(PCDH19):c.85del (p.Ser28_Val29insTer)
|
rs1928480582
|
|
NM_001184880.2(PCDH19):c.887G>T (p.Gly296Val)
|
rs1459520904
|
|
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val)
|
rs1602636925
|
|
NM_001184880.2(PCDH19):c.967C>T (p.Pro323Ser)
|
rs2147540049
|
|
NM_001184880.2:c.(2147+1_2148-1)_(2616+1_2617-1)del
|
|
|
NM_001190274.2(FBXO11):c.1120dup (p.Ile374fs)
|
rs1672291261
|
|
NM_001190274.2(FBXO11):c.1261G>A (p.Gly421Arg)
|
rs2104808289
|
|
NM_001190274.2(FBXO11):c.130C>T (p.Gln44Ter)
|
|
|
NM_001190274.2(FBXO11):c.1454A>G (p.Lys485Arg)
|
|
|
NM_001190274.2(FBXO11):c.1504A>C (p.Thr502Pro)
|
rs2104739162
|
|
NM_001190274.2(FBXO11):c.1507G>A (p.Gly503Arg)
|
|
|
NM_001190274.2(FBXO11):c.1517A>G (p.Tyr506Cys)
|
rs2104739095
|
|
NM_001190274.2(FBXO11):c.1576G>A (p.Ala526Thr)
|
rs1572785471
|
|
NM_001190274.2(FBXO11):c.1637G>A (p.Gly546Glu)
|
rs1671446564
|
|
NM_001190274.2(FBXO11):c.1645G>A (p.Gly549Arg)
|
rs2104731942
|
|
NM_001190274.2(FBXO11):c.1648G>C (p.Gly550Arg)
|
rs1671446124
|
|
NM_001190274.2(FBXO11):c.1669G>A (p.Gly557Arg)
|
|
|
NM_001190274.2(FBXO11):c.1733C>G (p.Thr578Arg)
|
rs2104716435
|
|
NM_001190274.2(FBXO11):c.1781A>G (p.His594Arg)
|
rs2104716081
|
|
NM_001190274.2(FBXO11):c.1783G>A (p.Gly595Ser)
|
rs2104716065
|
|
NM_001190274.2(FBXO11):c.1830T>G (p.Asn610Lys)
|
rs775765831
|
|
NM_001190274.2(FBXO11):c.191_199dup (p.Pro64_Pro66dup)
|
rs977093129
|
|
NM_001190274.2(FBXO11):c.1920+2T>A
|
rs1572776344
|
|
NM_001190274.2(FBXO11):c.1949A>C (p.His650Pro)
|
rs2104702176
|
|
NM_001190274.2(FBXO11):c.1967A>G (p.Asn656Ser)
|
rs2104702108
|
|
NM_001190274.2(FBXO11):c.1993G>A (p.Gly665Arg)
|
rs1671184211
|
|
NM_001190274.2(FBXO11):c.2036A>G (p.Asn679Ser)
|
rs1670806923
|
|
NM_001190274.2(FBXO11):c.2060G>A (p.Gly687Asp)
|
rs2104663941
|
|
NM_001190274.2(FBXO11):c.2074T>A (p.Tyr692Asn)
|
rs2104663816
|
|
NM_001190274.2(FBXO11):c.2075A>T (p.Tyr692Phe)
|
rs1670805547
|
|
NM_001190274.2(FBXO11):c.2084-93_2084-1del
|
|
|
NM_001190274.2(FBXO11):c.2125A>G (p.Met709Val)
|
rs2104658407
|
|
NM_001190274.2(FBXO11):c.2145G>C (p.Lys715Asn)
|
rs1572764737
|
|
NM_001190274.2(FBXO11):c.2188G>A (p.Gly730Arg)
|
rs1572764698
|
|
NM_001190274.2(FBXO11):c.2224C>T (p.Arg742Ter)
|
rs2104657995
|
|
NM_001190274.2(FBXO11):c.2338+2T>C
|
rs1670528197
|
|
NM_001190274.2(FBXO11):c.2603G>A (p.Cys868Tyr)
|
rs1670371887
|
|
NM_001190274.2(FBXO11):c.2666A>T (p.Asp889Val)
|
|
|
NM_001190274.2(FBXO11):c.2720_2721del (p.His907fs)
|
|
|
NM_001190274.2(FBXO11):c.2728G>T (p.Asp910Tyr)
|
|
|
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly)
|
rs1670355281
|
|
NM_001190274.2(FBXO11):c.2729A>T (p.Asp910Val)
|
rs1670355281
|
|
NM_001190274.2(FBXO11):c.2732C>A (p.Thr911Lys)
|
|
|
NM_001190274.2(FBXO11):c.2747C>T (p.Ala916Val)
|
|
|
NM_001190274.2(FBXO11):c.37C>T (p.Arg13Ter)
|
rs1233367010
|
|
NM_001190274.2(FBXO11):c.404A>G (p.Lys135Arg)
|
rs2104860667
|
|
NM_001190274.2(FBXO11):c.412A>G (p.Arg138Gly)
|
rs2104860646
|
|
NM_001190274.2(FBXO11):c.554G>A (p.Arg185His)
|
rs2104856077
|
|
NM_001190274.2(FBXO11):c.606A>C (p.Glu202Asp)
|
rs2104832921
|
|
NM_001190274.2(FBXO11):c.617A>G (p.Tyr206Cys)
|
rs1672530798
|
|
NM_001190274.2(FBXO11):c.657C>G (p.Tyr219Ter)
|
rs757821091
|
|
NM_001191061.2(SLC25A22):c.202+1G>A
|
rs1287249801
|
|
NM_001191061.2(SLC25A22):c.394C>T (p.Gln132Ter)
|
rs1554965669
|
|
NM_001191061.2(SLC25A22):c.568_587+6del
|
rs2133700632
|
|
NM_001191061.2(SLC25A22):c.754C>T (p.Arg252Trp)
|
rs1388811021
|
|
NM_001197104.2(KMT2A):c.10835+1G>A
|
|
|
NM_001197104.2(KMT2A):c.4012+1del
|
rs1950143446
|
|
NM_001197104.2(KMT2A):c.9440C>T (p.Ser3147Phe)
|
rs1950562472
|
|
NM_001198533.2(OXR1):c.1324del (p.Ser442fs)
|
rs1587174948
|
|
NM_001198533.2(OXR1):c.2317-1G>C
|
rs1333855063
|
|
NM_001199107.2(TBC1D24):c.1302+1G>T
|
|
|
NM_001199107.2(TBC1D24):c.1303-2A>G
|
rs2141876985
|
|
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs)
|
rs1292551263
|
|
NM_001199107.2(TBC1D24):c.1499C>G (p.Ala500Gly)
|
|
|
NM_001199107.2(TBC1D24):c.1652G>A (p.Trp551Ter)
|
rs2065788445
|
|
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys)
|
rs1057524192
|
|
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser)
|
rs1489466696
|
|
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu)
|
rs1057519630
|
|
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys)
|
rs763626059
|
|
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln)
|
rs756181906
|
|
NM_001199107.2(TBC1D24):c.965+1G>T
|
|
|
NM_001199107.2(TBC1D24):c.983+1G>C
|
rs2141873582
|
|
NM_001199107.2(TBC1D24):c.983+2T>C
|
rs1596969717
|
|
NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs)
|
rs1565532385
|
|
NM_001205293.3(CACNA1E):c.1042G>C (p.Gly348Arg)
|
rs2102063243
|
|
NM_001205293.3(CACNA1E):c.1054G>A (p.Gly352Arg)
|
rs886039323
|
|
NM_001205293.3(CACNA1E):c.1090C>T (p.Arg364Ter)
|
|
|
NM_001205293.3(CACNA1E):c.1807A>C (p.Ile603Leu)
|
rs778291283
|
|
NM_001205293.3(CACNA1E):c.2069G>A (p.Gly690Asp)
|
rs1361083258
|
|
NM_001205293.3(CACNA1E):c.2093T>C (p.Phe698Ser)
|
rs869312920
|
|
NM_001205293.3(CACNA1E):c.2094C>A (p.Phe698Leu)
|
rs1445829303
|
|
NM_001205293.3(CACNA1E):c.2098G>A (p.Ala700Thr)
|
rs2102499747
|
|
NM_001205293.3(CACNA1E):c.2101A>G (p.Ile701Val)
|
rs1558308998
|
|
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)
|
rs12131800
|
|
NM_001205293.3(CACNA1E):c.4004A>T (p.Asp1335Val)
|
rs1658058398
|
|
NM_001205293.3(CACNA1E):c.4264A>T (p.Ile1422Phe)
|
rs2102689621
|
|
NM_001205293.3(CACNA1E):c.4274C>A (p.Thr1425Asn)
|
rs2102689660
|
|
NM_001205293.3(CACNA1E):c.4288G>A (p.Gly1430Arg)
|
rs1553345844
|
|
NM_001205293.3(CACNA1E):c.5159C>G (p.Ala1720Gly)
|
rs2102795834
|
|
NM_001205293.3(CACNA1E):c.683T>C (p.Leu228Pro)
|
rs1553286282
|
|
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)
|
rs1554389088
|
|
NM_001220.5(CAMK2B):c.601+1G>A
|
|
|
NM_001220.5(CAMK2B):c.696+1G>A
|
rs780130215
|
|
NM_001220.5(CAMK2B):c.85C>T (p.Arg29Ter)
|
rs1554434435
|
|
NM_001220.5(CAMK2B):c.863_864del (p.Val288fs)
|
|
|
NM_001220.5(CAMK2B):c.885_902dup (p.Asn295_Leu300dup)
|
rs2096680726
|
|
NM_001220.5(CAMK2B):c.903+1G>A
|
rs1554385102
|
|
NM_001242896.3(DEPDC5):c.1018del (p.Val340fs)
|
rs1601970168
|
|
NM_001242896.3(DEPDC5):c.1081+2T>G
|
rs1601970824
|
|
NM_001242896.3(DEPDC5):c.1143+1G>A
|
rs2148649751
|
|
NM_001242896.3(DEPDC5):c.1225del (p.Thr409fs)
|
|
|
NM_001242896.3(DEPDC5):c.1277_1280del (p.Ala426fs)
|
rs1568963062
|
|
NM_001242896.3(DEPDC5):c.1287+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.1324+1G>A
|
rs2088011240
|
|
NM_001242896.3(DEPDC5):c.1324+1G>T
|
rs2088011240
|
|
NM_001242896.3(DEPDC5):c.1325-1G>A
|
rs1555882867
|
|
NM_001242896.3(DEPDC5):c.1325-1G>C
|
rs1555882867
|
|
NM_001242896.3(DEPDC5):c.1325-2A>G
|
rs2148707066
|
|
NM_001242896.3(DEPDC5):c.1325-2_1360del
|
|
|
NM_001242896.3(DEPDC5):c.1395dup (p.Val466fs)
|
rs2088167973
|
|
NM_001242896.3(DEPDC5):c.1445+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.1446-1G>T
|
rs1555885023
|
|
NM_001242896.3(DEPDC5):c.147-1G>C
|
|
|
NM_001242896.3(DEPDC5):c.1673T>C (p.Leu558Pro)
|
rs2089433234
|
|
NM_001242896.3(DEPDC5):c.1696del (p.Gln566fs)
|
rs2148801285
|
|
NM_001242896.3(DEPDC5):c.1725dup (p.His576fs)
|
rs2148801432
|
|
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
|
|
|
NM_001242896.3(DEPDC5):c.194-1G>C
|
rs2148102743
|
|
NM_001242896.3(DEPDC5):c.1981_2104+678del
|
|
|
NM_001242896.3(DEPDC5):c.2170+1G>A
|
rs2148924638
|
|
NM_001242896.3(DEPDC5):c.2233_2355-686del
|
rs2148952714
|
|
NM_001242896.3(DEPDC5):c.2354+2T>A
|
rs2148953712
|
|
NM_001242896.3(DEPDC5):c.2515+2T>G
|
|
|
NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val)
|
rs1602349641
|
|
NM_001242896.3(DEPDC5):c.2634-2A>G
|
rs2149008450
|
|
NM_001242896.3(DEPDC5):c.2694_2703delinsGGACA (p.Asp898fs)
|
rs1569083500
|
|
NM_001242896.3(DEPDC5):c.2697dup (p.Glu900fs)
|
|
|
NM_001242896.3(DEPDC5):c.280-4_282del
|
|
|
NM_001242896.3(DEPDC5):c.2800A>G (p.Ser934Gly)
|
|
|
NM_001242896.3(DEPDC5):c.3021+1G>A
|
rs2091657024
|
|
NM_001242896.3(DEPDC5):c.3264G>A (p.Lys1088=)
|
|
|
NM_001242896.3(DEPDC5):c.3460TCC[1] (p.Ser1155del)
|
rs2092817019
|
|
NM_001242896.3(DEPDC5):c.3485+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.3485+1G>T
|
rs2149231722
|
|
NM_001242896.3(DEPDC5):c.3486-1G>C
|
|
|
NM_001242896.3(DEPDC5):c.3486-1G>T
|
|
|
NM_001242896.3(DEPDC5):c.3486-3_3486-1delinsA
|
|
|
NM_001242896.3(DEPDC5):c.3563+1G>A
|
rs1261611694
|
|
NM_001242896.3(DEPDC5):c.3563+1G>C
|
rs1261611694
|
|
NM_001242896.3(DEPDC5):c.363+1G>A
|
rs2082845191
|
|
NM_001242896.3(DEPDC5):c.363+1G>C
|
|
|
NM_001242896.3(DEPDC5):c.364-1G>A
|
rs2083056830
|
|
NM_001242896.3(DEPDC5):c.3696+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.4015C>T (p.Gln1339Ter)
|
rs1309166815
|
|
NM_001242896.3(DEPDC5):c.4084_4087dup (p.Arg1363fs)
|
|
|
NM_001242896.3(DEPDC5):c.413+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.4152del (p.Phe1384fs)
|
rs1339126434
|
|
NM_001242896.3(DEPDC5):c.4203+1G>C
|
rs945102665
|
|
NM_001242896.3(DEPDC5):c.4204-1G>A
|
|
|
NM_001242896.3(DEPDC5):c.422_423insCTGG (p.Gly142fs)
|
rs1601755632
|
|
NM_001242896.3(DEPDC5):c.436dup (p.Val146fs)
|
rs2148328679
|
|
NM_001242896.3(DEPDC5):c.4436+1G>A
|
rs2149419886
|
|
NM_001242896.3(DEPDC5):c.483+1G>A
|
rs2084070588
|
|
NM_001242896.3(DEPDC5):c.483+2T>C
|
|
|
NM_001242896.3(DEPDC5):c.484-2A>T
|
|
|
NM_001242896.3(DEPDC5):c.58+1G>A
|
|
|
NM_001242896.3(DEPDC5):c.58+2T>C
|
|
|
NM_001242896.3(DEPDC5):c.59-2A>G
|
|
|
NM_001242896.3(DEPDC5):c.625-2A>G
|
rs1400868304
|
|
NM_001242896.3(DEPDC5):c.694+1G>A
|
rs1601875057
|
|
NM_001242896.3(DEPDC5):c.767+1G>A
|
rs2148514247
|
|
NM_001242896.3(DEPDC5):c.767+2T>C
|
|
|
NM_001242896.3(DEPDC5):c.768-2A>G
|
rs2086393945
|
|
NM_001242896.3(DEPDC5):c.828del (p.Lys276fs)
|
|
|
NM_001242896.3(DEPDC5):c.871+1G>T
|
rs1556607762
|
|
NM_001242896.3(DEPDC5):c.88_89insA (p.Phe30fs)
|
|
|
NM_001242896.3(DEPDC5):c.947-1G>A
|
rs2148633437
|
|
NM_001244008.2(KIF1A):c.1037+1G>C
|
rs2125976529
|
|
NM_001244008.2(KIF1A):c.103A>G (p.Thr35Ala)
|
|
|
NM_001244008.2(KIF1A):c.1049G>A (p.Arg350Gln)
|
|
|
NM_001244008.2(KIF1A):c.104C>A (p.Thr35Asn)
|
rs2056551129
|
|
NM_001244008.2(KIF1A):c.1208-2A>C
|
|
|
NM_001244008.2(KIF1A):c.1421+2T>A
|
rs751051049
|
|
NM_001244008.2(KIF1A):c.1578-2A>G
|
rs2125925871
|
|
NM_001244008.2(KIF1A):c.173C>G (p.Ser58Trp)
|
rs672601362
|
|
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)
|
rs672601362
|
|
NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His)
|
rs1553633823
|
|
NM_001244008.2(KIF1A):c.2116+1G>C
|
rs1553633687
|
|
NM_001244008.2(KIF1A):c.266A>T (p.Tyr89Phe)
|
|
|
NM_001244008.2(KIF1A):c.278_307del (p.Ile93_Gly102del)
|
|
|
NM_001244008.2(KIF1A):c.305G>A (p.Gly102Asp)
|
rs672601363
|
|
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)
|
rs1575654528
|
|
NM_001244008.2(KIF1A):c.32G>T (p.Arg11Leu)
|
rs1575654528
|
|
NM_001244008.2(KIF1A):c.3374+2T>G
|
rs2125791006
|
|
NM_001244008.2(KIF1A):c.3465+1G>A
|
|
|
NM_001244008.2(KIF1A):c.377T>C (p.Leu126Pro)
|
rs2055064647
|
|
NM_001244008.2(KIF1A):c.37C>T (p.Arg13Cys)
|
rs1064794935
|
|
NM_001244008.2(KIF1A):c.3901+415C>T
|
|
|
NM_001244008.2(KIF1A):c.3901+498del
|
|
|
NM_001244008.2(KIF1A):c.40C>A (p.Pro14Thr)
|
rs2056558371
|
|
NM_001244008.2(KIF1A):c.41C>T (p.Pro14Leu)
|
rs879253976
|
|
NM_001244008.2(KIF1A):c.430G>T (p.Val144Phe)
|
rs672601364
|
|
NM_001244008.2(KIF1A):c.4319-2A>G
|
rs1559477798
|
|
NM_001244008.2(KIF1A):c.444G>T (p.Glu148Asp)
|
rs2054763570
|
|
NM_001244008.2(KIF1A):c.452G>A (p.Cys151Tyr)
|
rs1553638655
|
|
NM_001244008.2(KIF1A):c.4868+1G>C
|
rs1553624714
|
|
NM_001244008.2(KIF1A):c.506G>C (p.Arg169Thr)
|
rs876661168
|
|
NM_001244008.2(KIF1A):c.556G>T (p.Val186Phe)
|
rs2054752278
|
|
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg)
|
rs1553638614
|
|
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro)
|
rs672601366
|
|
NM_001244008.2(KIF1A):c.609-1G>A
|
rs1559527796
|
|
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)
|
rs672601367
|
|
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His)
|
rs672601368
|
|
NM_001244008.2(KIF1A):c.647G>C (p.Arg216Pro)
|
rs672601368
|
|
NM_001244008.2(KIF1A):c.652C>T (p.His218Tyr)
|
rs2054549834
|
|
NM_001244008.2(KIF1A):c.746T>A (p.Leu249Gln)
|
rs672601371
|
|
NM_001244008.2(KIF1A):c.748G>T (p.Ala250Ser)
|
rs2054374864
|
|
NM_001244008.2(KIF1A):c.749C>A (p.Ala250Asp)
|
rs1559526692
|
|
NM_001244008.2(KIF1A):c.759G>C (p.Glu253Asp)
|
rs762126771
|
|
NM_001244008.2(KIF1A):c.760C>G (p.Arg254Gly)
|
rs879253888
|
|
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)
|
rs879253888
|
|
NM_001244008.2(KIF1A):c.761G>A (p.Arg254Gln)
|
rs886041692
|
|
NM_001244008.2(KIF1A):c.764C>A (p.Ala255Asp)
|
|
|
NM_001244008.2(KIF1A):c.773C>A (p.Thr258Lys)
|
rs1553638086
|
|
NM_001244008.2(KIF1A):c.798+1G>A
|
rs1064796565
|
|
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys)
|
rs1553637932
|
|
NM_001244008.2(KIF1A):c.79A>G (p.Ile27Val)
|
|
|
NM_001244008.2(KIF1A):c.79A>T (p.Ile27Phe)
|
rs2056552812
|
|
NM_001244008.2(KIF1A):c.812T>G (p.Ile271Ser)
|
rs2126049991
|
|
NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)
|
rs797045655
|
|
NM_001244008.2(KIF1A):c.824T>A (p.Leu275Gln)
|
|
|
NM_001244008.2(KIF1A):c.833T>C (p.Leu278Pro)
|
rs1131692159
|
|
NM_001244008.2(KIF1A):c.839A>G (p.Lys280Arg)
|
rs2054277617
|
|
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)
|
rs1131690804
|
|
NM_001244008.2(KIF1A):c.919C>G (p.Arg307Gly)
|
rs369692236
|
|
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)
|
rs1064793161
|
|
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro)
|
rs1064793161
|
|
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
|
rs672601370
|
|
NM_001244008.2(KIF1A):c.958+1G>C
|
rs780380861
|
|
NM_001244008.2(KIF1A):c.967T>C (p.Ser323Pro)
|
rs2052422975
|
|
NM_001244189.1(KIAA0586):c.2602_2612del11
|
|
|
NM_001252024.2(TRPM1):c.1623+1G>A
|
rs2033825467
|
|
NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)
|
|
|
NM_001256071.3(RNF213):c.11986_11989delinsGGGTTAG (p.Pro3996_Cys3997delinsGlyLeuGly)
|
rs2144460572
|
|
NM_001256071.3(RNF213):c.12040C>A (p.His4014Asn)
|
rs1555675538
|
|
NM_001256071.3(RNF213):c.12050G>A (p.Cys4017Tyr)
|
|
|
NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe)
|
rs1599150380
|
|
NM_001256071.3(RNF213):c.12341C>G (p.Thr4114Arg)
|
rs2079442813
|
|
NM_001256071.3(RNF213):c.12343_12345del (p.Lys4115del)
|
rs797045187
|
|
NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu)
|
rs1568149971
|
|
NM_001256071.3(RNF213):c.14822T>A (p.Val4941Glu)
|
|
|
NM_001256071.3(RNF213):c.1699A>G (p.Met567Val)
|
|
|
NM_001256071.3(RNF213):c.2875G>T (p.Gly959Ter)
|
rs546643996
|
|
NM_001256864.2(DNAJC6):c.2570del (p.Pro857fs)
|
|
|
NM_001256864.2(DNAJC6):c.49G>T (p.Glu17Ter)
|
rs1219237924
|
|
NM_001256864.2(DNAJC6):c.666+1G>A
|
|
|
NM_001257180.2(SLC20A2):c.1196A>C (p.His399Pro)
|
rs1563453866
|
|
NM_001257180.2(SLC20A2):c.1520_1521del (p.Val507fs)
|
rs1563452322
|
|
NM_001257180.2(SLC20A2):c.165_169del (p.Glu55fs)
|
rs2131227624
|
|
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys)
|
rs387906653
|
|
NM_001257180.2(SLC20A2):c.1795-1G>A
|
rs1563431044
|
|
NM_001257180.2(SLC20A2):c.1802C>T (p.Ser601Leu)
|
rs387906652
|
|
NM_001257180.2(SLC20A2):c.1845C>G (p.Asp615Glu)
|
rs2130905407
|
|
NM_001257180.2(SLC20A2):c.187G>A (p.Gly63Ser)
|
rs1563497719
|
|
NM_001257180.2(SLC20A2):c.188G>A (p.Gly63Asp)
|
rs1563497714
|
|
NM_001257180.2(SLC20A2):c.21del (p.Leu7fs)
|
rs1563498184
|
|
NM_001257180.2(SLC20A2):c.290-1G>A
|
rs2131192653
|
|
NM_001257180.2(SLC20A2):c.303del (p.Trp101fs)
|
rs1563490467
|
|
NM_001257180.2(SLC20A2):c.344C>A (p.Thr115Lys)
|
|
|
NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)
|
|
|
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe)
|
rs1569507511
|
|
NM_001257293.2(HNRNPH1):c.340C>T (p.Arg114Trp)
|
rs1772040461
|
|
NM_001267550.2(TTN):c.50473C>T (p.Gln16825Ter)
|
rs2154199961
|
|
NM_001271.4(CHD2):c.1052+1G>T
|
|
|
NM_001271.4(CHD2):c.1053-2A>C
|
|
|
NM_001271.4(CHD2):c.1126C>T (p.Gln376Ter)
|
rs2053431254
|
|
NM_001271.4(CHD2):c.1151_1153+4del
|
rs2053431516
|
|
NM_001271.4(CHD2):c.1154-1G>T
|
|
|
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu)
|
rs1060503519
|
|
NM_001271.4(CHD2):c.1198+2T>C
|
|
|
NM_001271.4(CHD2):c.1244G>T (p.Cys415Phe)
|
|
|
NM_001271.4(CHD2):c.1503-2A>G
|
|
|
NM_001271.4(CHD2):c.1570dup (p.Ser524fs)
|
|
|
NM_001271.4(CHD2):c.1720-155_1727delinsT
|
rs1596406306
|
|
NM_001271.4(CHD2):c.1809+1G>A
|
rs1057520592
|
|
NM_001271.4(CHD2):c.1862G>C (p.Arg621Pro)
|
rs2141816539
|
|
NM_001271.4(CHD2):c.1882_1883del (p.Leu628fs)
|
|
|
NM_001271.4(CHD2):c.1898dup (p.Ile634fs)
|
|
|
NM_001271.4(CHD2):c.1934C>A (p.Thr645Lys)
|
rs2053619460
|
|
NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)
|
rs2053619460
|
|
NM_001271.4(CHD2):c.1940C>T (p.Thr647Ile)
|
rs2053619599
|
|
NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)
|
|
|
NM_001271.4(CHD2):c.2190-1G>C
|
rs2053845402
|
|
NM_001271.4(CHD2):c.236T>C (p.Leu79Pro)
|
|
|
NM_001271.4(CHD2):c.2432T>C (p.Leu811Pro)
|
rs1596419511
|
|
NM_001271.4(CHD2):c.2435T>C (p.Ile812Thr)
|
rs2141836224
|
|
NM_001271.4(CHD2):c.2470G>C (p.Ala824Pro)
|
|
|
NM_001271.4(CHD2):c.2514_2524del (p.Asp838fs)
|
rs2141839134
|
|
NM_001271.4(CHD2):c.2605_2606delinsTT (p.Ala869Phe)
|
|
|
NM_001271.4(CHD2):c.2612G>A (p.Gly871Asp)
|
|
|
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val)
|
rs1555442813
|
|
NM_001271.4(CHD2):c.2644GTC[1] (p.Val883del)
|
|
|
NM_001271.4(CHD2):c.2652_2654del (p.Phe885del)
|
rs1596427937
|
|
NM_001271.4(CHD2):c.2667_2668insGTTTTG (p.Trp889_Asn890insValLeu)
|
rs2141843225
|
|
NM_001271.4(CHD2):c.2670C>G (p.Asn890Lys)
|
|
|
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg)
|
rs1596427970
|
|
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln)
|
rs1567149946
|
|
NM_001271.4(CHD2):c.2699G>T (p.Arg900Leu)
|
rs1567149946
|
|
NM_001271.4(CHD2):c.2705A>G (p.His902Arg)
|
rs2053935622
|
|
NM_001271.4(CHD2):c.2707A>G (p.Arg903Gly)
|
|
|
NM_001271.4(CHD2):c.2764GAG[2] (p.Glu924del)
|
rs2053946125
|
|
NM_001271.4(CHD2):c.2764del (p.Glu922fs)
|
rs2141844216
|
|
NM_001271.4(CHD2):c.2765A>C (p.Glu922Ala)
|
|
|
NM_001271.4(CHD2):c.2809C>G (p.His937Asp)
|
rs1596429174
|
|
NM_001271.4(CHD2):c.2813T>C (p.Leu938Pro)
|
rs2053946404
|
|
NM_001271.4(CHD2):c.2816T>G (p.Val939Gly)
|
|
|
NM_001271.4(CHD2):c.2876+1G>T
|
|
|
NM_001271.4(CHD2):c.294+1G>T
|
|
|
NM_001271.4(CHD2):c.3018_3019del (p.Glu1006_Asn1007insTer)
|
rs1064796496
|
|
NM_001271.4(CHD2):c.3112C>T (p.Arg1038Cys)
|
|
|
NM_001271.4(CHD2):c.3220C>T (p.Arg1074Trp)
|
rs2141850669
|
|
NM_001271.4(CHD2):c.3237+1G>A
|
|
|
NM_001271.4(CHD2):c.3388G>A (p.Gly1130Arg)
|
|
|
NM_001271.4(CHD2):c.3414-2A>G
|
|
|
NM_001271.4(CHD2):c.3427T>G (p.Tyr1143Asp)
|
|
|
NM_001271.4(CHD2):c.3454C>G (p.Arg1152Gly)
|
rs1596443241
|
|
NM_001271.4(CHD2):c.3454C>T (p.Arg1152Trp)
|
rs1596443241
|
|
NM_001271.4(CHD2):c.3491A>G (p.Asp1164Gly)
|
|
|
NM_001271.4(CHD2):c.3542G>T (p.Cys1181Phe)
|
rs2141861661
|
|
NM_001271.4(CHD2):c.3637T>C (p.Ser1213Pro)
|
|
|
NM_001271.4(CHD2):c.3700_3707del (p.Lys1234fs)
|
rs2054197493
|
|
NM_001271.4(CHD2):c.3782G>T (p.Trp1261Leu)
|
rs1555444603
|
|
NM_001271.4(CHD2):c.3802C>T (p.Arg1268Cys)
|
rs2054200789
|
|
NM_001271.4(CHD2):c.381+1G>A
|
rs2053081680
|
|
NM_001271.4(CHD2):c.3815G>A (p.Gly1272Glu)
|
rs2141867671
|
|
NM_001271.4(CHD2):c.3886-1G>C
|
|
|
NM_001271.4(CHD2):c.390C>T (p.Ser130=)
|
rs1555437851
|
|
NM_001271.4(CHD2):c.4009-2A>G
|
|
|
NM_001271.4(CHD2):c.4109A>G (p.Asp1370Gly)
|
rs2141871764
|
|
NM_001271.4(CHD2):c.4137+2T>C
|
|
|
NM_001271.4(CHD2):c.4137+3A>G
|
|
|
NM_001271.4(CHD2):c.4138-1G>A
|
rs2054265721
|
|
NM_001271.4(CHD2):c.4173del (p.Lys1391fs)
|
rs749969667
|
|
NM_001271.4(CHD2):c.4278+1G>A
|
rs2141873750
|
|
NM_001271.4(CHD2):c.4414-2A>G
|
rs2141881521
|
|
NM_001271.4(CHD2):c.443+1G>A
|
rs2141755359
|
|
NM_001271.4(CHD2):c.4560del (p.Ser1521fs)
|
rs2054360719
|
|
NM_001271.4(CHD2):c.4600T>C (p.Trp1534Arg)
|
|
|
NM_001271.4(CHD2):c.4613C>T (p.Ser1538Phe)
|
rs1596456893
|
|
NM_001271.4(CHD2):c.4906+1G>T
|
rs2141888378
|
|
NM_001271.4(CHD2):c.692+1G>C
|
rs1555439036
|
|
NM_001271.4(CHD2):c.693-1G>A
|
rs2053387699
|
|
NM_001271.4(CHD2):c.693-3C>A
|
rs2141785016
|
|
NM_001271.4(CHD2):c.789dup (p.Glu264Ter)
|
rs2053388293
|
|
NM_001271.4(CHD2):c.947dup (p.Tyr316Ter)
|
rs1555439545
|
|
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr)
|
rs1057518042
|
|
NM_001271838.2(RSRC1):c.332del (p.Arg111fs)
|
|
|
NM_001272071.2(AP1S2):c.-1+1G>A
|
rs1934288587
|
|
NM_001272071.2(AP1S2):c.21del (p.Phe7fs)
|
|
|
NM_001272071.2(AP1S2):c.321_334del (p.Glu107fs)
|
rs1933972061
|
|
NM_001278116.2(L1CAM):c.1231G>T (p.Gly411Trp)
|
|
|
NM_001278116.2(L1CAM):c.139_140del (p.Val47fs)
|
rs2064782292
|
|
NM_001278116.2(L1CAM):c.1565_1566del (p.Gln522fs)
|
|
|
NM_001278116.2(L1CAM):c.1615T>G (p.Cys539Gly)
|
rs886041102
|
|
NM_001278116.2(L1CAM):c.2376C>G (p.Asn792Lys)
|
|
|
NM_001278116.2(L1CAM):c.2399C>A (p.Pro800His)
|
rs2148495027
|
|
NM_001278116.2(L1CAM):c.2555del (p.Tyr852fs)
|
|
|
NM_001278116.2(L1CAM):c.2848_2849del (p.Gly950fs)
|
|
|
NM_001278116.2(L1CAM):c.3226A>C (p.Thr1076Pro)
|
rs2064692485
|
|
NM_001278116.2(L1CAM):c.3233G>A (p.Trp1078Ter)
|
|
|
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu)
|
rs137852522
|
|
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile)
|
rs1603277433
|
|
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn)
|
rs1603276146
|
|
NM_001278116.2(L1CAM):c.743C>A (p.Ser248Tyr)
|
rs782163019
|
|
NM_001278464.2(DNM1L):c.254del (p.Pro85fs)
|
|
|
NM_001278512.2(AP3B2):c.1750C>T (p.Gln584Ter)
|
|
|
NM_001278512.2(AP3B2):c.1958_1959del (p.Val653fs)
|
|
|
NM_001278512.2(AP3B2):c.392_394del (p.Leu131del)
|
rs1596183293
|
|
NM_001278512.2(AP3B2):c.454G>T (p.Glu152Ter)
|
rs2151441655
|
|
NM_001278512.2(AP3B2):c.66C>G (p.Tyr22Ter)
|
rs1304104449
|
|
NM_001278512.2(AP3B2):c.674_675del (p.Leu224_Cys225insTer)
|
rs1481189891
|
|
NM_001282531.3(ADNP):c.-89-3923_201+2793inv
|
|
|
NM_001282531.3(ADNP):c.1046_1047del (p.Leu349fs)
|
rs1981065982
|
|
NM_001282531.3(ADNP):c.1102C>T (p.Gln368Ter)
|
rs886056775
|
|
NM_001282531.3(ADNP):c.1222_1223del (p.Lys408fs)
|
rs1555810376
|
|
NM_001282531.3(ADNP):c.1265dup (p.Gln423fs)
|
rs1600932676
|
|
NM_001282531.3(ADNP):c.1310dup (p.Gly438fs)
|
rs2122753883
|
|
NM_001282531.3(ADNP):c.1540T>G (p.Cys514Gly)
|
rs2122752568
|
|
NM_001282531.3(ADNP):c.1717del (p.Asp573fs)
|
rs1555810193
|
|
NM_001282531.3(ADNP):c.2000G>T (p.Cys667Phe)
|
|
|
NM_001282531.3(ADNP):c.201G>C (p.Gln67His)
|
rs1555812161
|
|
NM_001282531.3(ADNP):c.2089dup (p.Gln697fs)
|
rs2122747616
|
|
NM_001282531.3(ADNP):c.2129dup (p.Ser711fs)
|
rs1980913274
|
|
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)
|
rs1135401808
|
|
NM_001282531.3(ADNP):c.2157del (p.Thr718_Tyr719insTer)
|
rs1600930164
|
|
NM_001282531.3(ADNP):c.2163_2164dup (p.Met722fs)
|
rs2122746369
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001282531.3(ADNP):c.2193_2197delinsA (p.Leu732fs)
|
|
|
NM_001282531.3(ADNP):c.2213dup (p.Pro739fs)
|
|
|
NM_001282531.3(ADNP):c.2250_2274del (p.Val751fs)
|
rs1980878343
|
|
NM_001282531.3(ADNP):c.2278G>T (p.Glu760Ter)
|
rs1221864735
|
|
NM_001282531.3(ADNP):c.2287del (p.Ser763fs)
|
rs1555809919
|
|
NM_001282531.3(ADNP):c.2330_2333del (p.Lys777fs)
|
|
|
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs)
|
rs587777522
|
|
NM_001282531.3(ADNP):c.2938C>T (p.Gln980Ter)
|
rs1980763449
|
|
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)
|
|
|
NM_001282531.3(ADNP):c.321del (p.Asn108fs)
|
rs2122764752
|
|
NM_001282531.3(ADNP):c.443_446del (p.Lys148fs)
|
|
|
NM_001282531.3(ADNP):c.64dup (p.Ile22fs)
|
rs1982229334
|
|
NM_001282531.3(ADNP):c.709del (p.Val237fs)
|
rs1981116316
|
|
NM_001282531.3(ADNP):c.833dup (p.Lys279fs)
|
|
|
NM_001282597.3(CTNNA2):c.718del (p.Arg240fs)
|
|
|
NM_001283009.2(RTEL1):c.691G>T (p.Asp231Tyr)
|
|
|
NM_001287491.2(TET3):c.2722G>T (p.Val908Leu)
|
rs1227643933
|
|
NM_001289080.2(CNTN6):c.1492+1G>T
|
|
|
NM_001289396.1:c.[3495G>C(;)3917G>A]
|
|
|
NM_001303052.2(MYT1L):c.1516T>C (p.Cys506Arg)
|
rs2052983721
|
|
NM_001303052.2(MYT1L):c.1532G>A (p.Cys511Tyr)
|
|
|
NM_001303052.2(MYT1L):c.1538G>T (p.Gly513Val)
|
rs2149071963
|
|
NM_001303052.2(MYT1L):c.1543G>A (p.Gly515Ser)
|
|
|
NM_001303052.2(MYT1L):c.1559T>C (p.Leu520Pro)
|
rs1057519560
|
|
NM_001303052.2(MYT1L):c.1570C>A (p.His524Asn)
|
rs2052976421
|
|
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys)
|
rs2149071722
|
|
NM_001303052.2(MYT1L):c.1574G>T (p.Arg525Leu)
|
rs753426087
|
|
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg)
|
rs1275489527
|
|
NM_001303052.2(MYT1L):c.1618_1618+1delinsC
|
|
|
NM_001303052.2(MYT1L):c.1670G>T (p.Gly557Val)
|
|
|
NM_001303052.2(MYT1L):c.1672C>T (p.Arg558Cys)
|
rs2052089346
|
|
NM_001303052.2(MYT1L):c.1678C>T (p.His560Tyr)
|
rs1558371790
|
|
NM_001303052.2(MYT1L):c.1695G>T (p.Arg565Ser)
|
rs1573501865
|
|
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln)
|
rs878853045
|
|
NM_001303052.2(MYT1L):c.1717G>A (p.Gly573Arg)
|
rs1330054460
|
|
NM_001303052.2(MYT1L):c.1718G>A (p.Gly573Glu)
|
rs2051764612
|
|
NM_001303052.2(MYT1L):c.1733C>T (p.Ala578Val)
|
rs1573483715
|
|
NM_001303052.2(MYT1L):c.2010_2025dup (p.Asp676delinsIleProGlnArgIleTer)
|
|
|
NM_001303052.2(MYT1L):c.2221_2230del (p.Thr741fs)
|
rs1253072668
|
|
NM_001303052.2(MYT1L):c.2274C>A (p.Cys758Ter)
|
|
|
NM_001303052.2(MYT1L):c.2484_2485del (p.Arg829fs)
|
rs2148852029
|
|
NM_001303052.2(MYT1L):c.2519_2520+3del
|
|
|
NM_001303052.2(MYT1L):c.2838del (p.Glu947fs)
|
|
|
NM_001303052.2(MYT1L):c.557dup (p.Asp187fs)
|
rs2149110899
|
|
NM_001303052.2(MYT1L):c.682A>G (p.Asn228Asp)
|
rs2053776375
|
|
NM_001318510.2(ACSL4):c.1072_1073del (p.Leu358fs)
|
|
|
NM_001318510.2(ACSL4):c.1653_1654insT (p.Lys552Ter)
|
rs2147391497
|
|
NM_001318510.2(ACSL4):c.1712T>G (p.Val571Gly)
|
rs1603401125
|
|
NM_001318510.2(ACSL4):c.257del (p.Asn86fs)
|
|
|
NM_001318510.2(ACSL4):c.473C>A (p.Ser158Tyr)
|
rs1924147806
|
|
NM_001320.7(CSNK2B):c.72+1G>T
|
|
|
NM_001320.7(CSNK2B):c.72+2T>G
|
rs2151182244
|
|
NM_001321075.3(DLG4):c.1083G>A (p.Ser361=)
|
rs1227093654
|
|
NM_001321075.3(DLG4):c.1084-1G>T
|
rs2142844164
|
|
NM_001321075.3(DLG4):c.10_13del (p.Leu4fs)
|
|
|
NM_001321075.3(DLG4):c.1478+2T>C
|
rs542036630
|
|
NM_001321075.3(DLG4):c.1479-2A>G
|
rs2142828286
|
|
NM_001321075.3(DLG4):c.1489C>T (p.Arg497Ter)
|
rs1567528092
|
|
NM_001321075.3(DLG4):c.1490del (p.Arg497fs)
|
|
|
NM_001321075.3(DLG4):c.1543+2T>C
|
rs1597444614
|
|
NM_001321075.3(DLG4):c.1592-1G>A
|
rs2142825829
|
|
NM_001321075.3(DLG4):c.1607C>T (p.Pro536Leu)
|
rs2142825745
|
|
NM_001321075.3(DLG4):c.1693+1G>A
|
rs2142825211
|
|
NM_001321075.3(DLG4):c.1832C>T (p.Thr611Ile)
|
rs2142821651
|
|
NM_001321075.3(DLG4):c.1866+2T>C
|
rs2142821543
|
|
NM_001321075.3(DLG4):c.1878C>A (p.Cys626Ter)
|
rs1451196379
|
|
NM_001321075.3(DLG4):c.210+1G>T
|
rs2070315709
|
|
NM_001321075.3(DLG4):c.210+2del
|
|
|
NM_001321075.3(DLG4):c.211-2A>G
|
rs2142886707
|
|
NM_001321075.3(DLG4):c.505+1G>T
|
|
|
NM_001321075.3(DLG4):c.506-2A>G
|
|
|
NM_001321075.3(DLG4):c.530G>T (p.Gly177Val)
|
rs2142884433
|
|
NM_001321075.3(DLG4):c.557A>T (p.Asp186Val)
|
rs2142884288
|
|
NM_001321075.3(DLG4):c.642G>A (p.Ala214=)
|
rs2142883774
|
|
NM_001321075.3(DLG4):c.643-1G>T
|
|
|
NM_001321075.3(DLG4):c.773del (p.Pro258fs)
|
|
|
NM_001321075.3(DLG4):c.787+2T>C
|
rs2142881946
|
|
NM_001323289.2(CDKL5):c.1082del (p.Pro361fs)
|
|
|
NM_001323289.2(CDKL5):c.108_110del (p.His36_Glu37delinsGln)
|
rs2147132235
|
|
NM_001323289.2(CDKL5):c.1147_1151del (p.Thr383fs)
|
rs1569219331
|
|
NM_001323289.2(CDKL5):c.116T>G (p.Val39Gly)
|
rs1924899673
|
|
NM_001323289.2(CDKL5):c.1238C>A (p.Ser413Ter)
|
rs267608618
|
|
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn)
|
rs1602263431
|
|
NM_001323289.2(CDKL5):c.146-2A>C
|
rs2147139522
|
|
NM_001323289.2(CDKL5):c.1467_1486del (p.His489fs)
|
|
|
NM_001323289.2(CDKL5):c.1596del (p.Thr533fs)
|
rs1555952078
|
|
NM_001323289.2(CDKL5):c.1628dup (p.Ser543fs)
|
rs2147160942
|
|
NM_001323289.2(CDKL5):c.163_166del (p.Glu55fs)
|
rs267608433
|
|
NM_001323289.2(CDKL5):c.1671dup (p.Arg558fs)
|
rs587783115
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
|
rs267608395
|
|
NM_001323289.2(CDKL5):c.170_177del (p.Thr57fs)
|
|
|
NM_001323289.2(CDKL5):c.176G>C (p.Arg59Pro)
|
rs1555949009
|
|
NM_001323289.2(CDKL5):c.191T>C (p.Leu64Pro)
|
rs267608435
|
|
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)
|
rs267608437
|
|
NM_001323289.2(CDKL5):c.2047-2A>C
|
rs1926471092
|
|
NM_001323289.2(CDKL5):c.212A>G (p.Asn71Ser)
|
rs1925264314
|
|
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys)
|
rs1602269367
|
|
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=)
|
rs886043453
|
|
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met)
|
rs267608653
|
|
NM_001323289.2(CDKL5):c.2276+1G>A
|
rs1602292181
|
|
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)
|
rs267608659
|
|
NM_001323289.2(CDKL5):c.2480_2486dup (p.Gln830fs)
|
rs1555954752
|
|
NM_001323289.2(CDKL5):c.2500C>T (p.Gln834Ter)
|
rs122460158
|
|
NM_001323289.2(CDKL5):c.256T>G (p.Tyr86Asp)
|
rs2147139669
|
|
NM_001323289.2(CDKL5):c.259T>G (p.Leu87Val)
|
rs2147139674
|
|
NM_001323289.2(CDKL5):c.2626A>G (p.Ile876Val)
|
|
|
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
|
rs61753251
|
|
NM_001323289.2(CDKL5):c.2828_2829del (p.Arg943fs)
|
rs1555955290
|
|
NM_001323289.2(CDKL5):c.290T>C (p.Leu97Pro)
|
rs1925418549
|
|
NM_001323289.2(CDKL5):c.350dup (p.Tyr117Ter)
|
|
|
NM_001323289.2(CDKL5):c.379C>G (p.His127Asp)
|
rs1925423909
|
|
NM_001323289.2(CDKL5):c.379C>T (p.His127Tyr)
|
|
|
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe)
|
rs1569213917
|
|
NM_001323289.2(CDKL5):c.397C>T (p.His133Tyr)
|
|
|
NM_001323289.2(CDKL5):c.404-1G>C
|
|
|
NM_001323289.2(CDKL5):c.404-2_412del
|
rs2147143992
|
|
NM_001323289.2(CDKL5):c.408A>G (p.Ile136Met)
|
rs1310022305
|
|
NM_001323289.2(CDKL5):c.415G>A (p.Glu139Lys)
|
|
|
NM_001323289.2(CDKL5):c.420T>A (p.Asn140Lys)
|
rs1925492808
|
|
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg)
|
rs1602272932
|
|
NM_001323289.2(CDKL5):c.455G>A (p.Cys152Tyr)
|
rs122460157
|
|
NM_001323289.2(CDKL5):c.455G>T (p.Cys152Phe)
|
rs122460157
|
|
NM_001323289.2(CDKL5):c.464-1G>C
|
rs786204986
|
|
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val)
|
rs863225066
|
|
NM_001323289.2(CDKL5):c.473G>C (p.Arg158Pro)
|
rs757402424
|
|
NM_001323289.2(CDKL5):c.507dup (p.Glu170fs)
|
|
|
NM_001323289.2(CDKL5):c.524G>A (p.Arg175Lys)
|
|
|
NM_001323289.2(CDKL5):c.524G>C (p.Arg175Thr)
|
rs1064794734
|
|
NM_001323289.2(CDKL5):c.526T>C (p.Trp176Arg)
|
rs587783084
|
|
NM_001323289.2(CDKL5):c.527G>A (p.Trp176Ter)
|
rs2147145565
|
|
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys)
|
rs2147145573
|
|
NM_001323289.2(CDKL5):c.530_535del (p.Tyr177_Arg178del)
|
|
|
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
|
|
NM_001323289.2(CDKL5):c.533_536dup (p.Pro180fs)
|
|
|
NM_001323289.2(CDKL5):c.554+1G>A
|
rs1555950083
|
|
NM_001323289.2(CDKL5):c.554+2T>C
|
|
|
NM_001323289.2(CDKL5):c.578A>T (p.Asp193Val)
|
|
|
NM_001323289.2(CDKL5):c.585G>T (p.Trp195Cys)
|
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
NM_001323289.2(CDKL5):c.58G>A (p.Gly20Ser)
|
rs267608418
|
|
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)
|
rs267608418
|
|
NM_001323289.2(CDKL5):c.595T>C (p.Cys199Arg)
|
|
|
NM_001323289.2(CDKL5):c.599T>A (p.Ile200Asn)
|
rs2147148013
|
|
NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp)
|
rs786204962
|
|
NM_001323289.2(CDKL5):c.601del (p.Glu203fs)
|
rs1925697105
|
|
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro)
|
rs587783087
|
|
NM_001323289.2(CDKL5):c.605G>A (p.Gly202Glu)
|
|
|
NM_001323289.2(CDKL5):c.608A>G (p.Glu203Gly)
|
rs1925697823
|
|
NM_001323289.2(CDKL5):c.616G>T (p.Asp206Tyr)
|
rs1555950468
|
|
NM_001323289.2(CDKL5):c.625C>A (p.Pro209Thr)
|
|
|
NM_001323289.2(CDKL5):c.62A>G (p.Glu21Gly)
|
rs587783406
|
|
NM_001323289.2(CDKL5):c.637G>A (p.Gly213Arg)
|
rs2147148092
|
|
NM_001323289.2(CDKL5):c.64+2T>G
|
|
|
NM_001323289.2(CDKL5):c.64G>A (p.Gly22Arg)
|
rs1922607139
|
|
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)
|
rs1602232972
|
|
NM_001323289.2(CDKL5):c.65G>C (p.Gly22Ala)
|
rs1602232972
|
|
NM_001323289.2(CDKL5):c.680T>G (p.Leu227Arg)
|
rs267608515
|
|
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys)
|
rs1922801133
|
|
NM_001323289.2(CDKL5):c.745-3007_825+774del
|
|
|
NM_001323289.2(CDKL5):c.80T>C (p.Val27Ala)
|
|
|
NM_001323289.2(CDKL5):c.825+1G>C
|
|
|
NM_001323289.2(CDKL5):c.825+1dup
|
rs1602280455
|
|
NM_001323289.2(CDKL5):c.826-14_835del
|
|
|
NM_001323289.2(CDKL5):c.826-1G>A
|
rs587783149
|
|
NM_001323289.2(CDKL5):c.826-2A>G
|
rs1060501859
|
|
NM_001323289.2(CDKL5):c.853A>G (p.Arg285Gly)
|
rs1926078505
|
|
NM_001323289.2(CDKL5):c.855A>C (p.Arg285Ser)
|
rs267608532
|
|
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr)
|
rs1555940536
|
|
NM_001323289.2(CDKL5):c.99+1G>C
|
rs267608421
|
|
NM_001323289.2(CDKL5):c.99+1G>T
|
rs267608421
|
|
NM_001324418.2(ADAM22):c.1981dup (p.Met661fs)
|
rs1842129329
|
|
NM_001329943.3(KIAA0586):c.-29A>C
|
rs752709426
|
|
NM_001329943.3(KIAA0586):c.1129+1G>A
|
rs2140707466
|
|
NM_001329943.3(KIAA0586):c.1130-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.1253+1G>A
|
|
|
NM_001329943.3(KIAA0586):c.1362+2T>C
|
rs901508284
|
|
NM_001329943.3(KIAA0586):c.1884+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.200-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.2254+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.2634+1G>T
|
|
|
NM_001329943.3(KIAA0586):c.271-1G>A
|
|
|
NM_001329943.3(KIAA0586):c.2825+1G>A
|
rs2141025675
|
|
NM_001329943.3(KIAA0586):c.2945-1G>C
|
|
|
NM_001329943.3(KIAA0586):c.3142_3144+5del
|
rs771240219
|
|
NM_001329943.3(KIAA0586):c.3144+1G>A
|
|
|
NM_001329943.3(KIAA0586):c.3144+2T>C
|
|
|
NM_001329943.3(KIAA0586):c.341-2A>G
|
|
|
NM_001329943.3(KIAA0586):c.3859-3_3865del
|
|
|
NM_001329943.3(KIAA0586):c.3991-1G>A
|
|
|
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
|
|
|
NM_001329943.3(KIAA0586):c.807+1G>T
|
|
|
NM_001330260.2(SCN8A):c.1087T>G (p.Leu363Val)
|
rs2138742488
|
|
NM_001330260.2(SCN8A):c.1100T>C (p.Met367Thr)
|
rs1941714399
|
|
NM_001330260.2(SCN8A):c.1101G>C (p.Met367Ile)
|
|
|
NM_001330260.2(SCN8A):c.1106A>T (p.Gln369Leu)
|
rs1941714576
|
|
NM_001330260.2(SCN8A):c.1201T>C (p.Tyr401His)
|
rs2138748186
|
|
NM_001330260.2(SCN8A):c.1222G>T (p.Ala408Ser)
|
|
|
NM_001330260.2(SCN8A):c.1226T>C (p.Val409Ala)
|
rs2138748239
|
|
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu)
|
rs879255699
|
|
NM_001330260.2(SCN8A):c.1238C>A (p.Ala413Asp)
|
|
|
NM_001330260.2(SCN8A):c.1250A>C (p.Gln417Pro)
|
rs878854973
|
|
NM_001330260.2(SCN8A):c.1258G>C (p.Ala420Pro)
|
rs1592392873
|
|
NM_001330260.2(SCN8A):c.2266G>A (p.Asp756Asn)
|
|
|
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)
|
rs797045013
|
|
NM_001330260.2(SCN8A):c.2507A>T (p.Asp836Val)
|
|
|
NM_001330260.2(SCN8A):c.2518C>T (p.Leu840Phe)
|
rs1942779292
|
|
NM_001330260.2(SCN8A):c.2519T>G (p.Leu840Arg)
|
rs878854974
|
|
NM_001330260.2(SCN8A):c.2534C>T (p.Ser845Phe)
|
rs796053210
|
|
NM_001330260.2(SCN8A):c.2543T>G (p.Leu848Trp)
|
rs886043686
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.2603T>C (p.Ile868Thr)
|
rs1555225794
|
|
NM_001330260.2(SCN8A):c.2617G>T (p.Gly873Cys)
|
rs1942828530
|
|
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)
|
rs1057524820
|
|
NM_001330260.2(SCN8A):c.2620G>T (p.Ala874Ser)
|
rs1057524820
|
|
NM_001330260.2(SCN8A):c.2633T>C (p.Leu878Pro)
|
rs1942828881
|
|
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu)
|
rs1592149771
|
|
NM_001330260.2(SCN8A):c.2668G>C (p.Ala890Pro)
|
rs879255702
|
|
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly)
|
rs863225295
|
|
NM_001330260.2(SCN8A):c.2706del (p.Glu903fs)
|
rs2138862858
|
|
NM_001330260.2(SCN8A):c.276+1G>A
|
|
|
NM_001330260.2(SCN8A):c.2799G>T (p.Leu933Phe)
|
rs774522197
|
|
NM_001330260.2(SCN8A):c.2811G>T (p.Trp937Cys)
|
rs1555225835
|
|
NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter)
|
rs2138863024
|
|
NM_001330260.2(SCN8A):c.2900T>G (p.Val967Gly)
|
rs1592149906
|
|
NM_001330260.2(SCN8A):c.2901+1G>C
|
rs1942832440
|
|
NM_001330260.2(SCN8A):c.2934C>A (p.Ser978Arg)
|
|
|
NM_001330260.2(SCN8A):c.2935_2936delinsAA (p.Ser979Asn)
|
|
|
NM_001330260.2(SCN8A):c.2945C>T (p.Ala982Val)
|
rs1565917697
|
|
NM_001330260.2(SCN8A):c.2983A>G (p.Asn995Asp)
|
rs1565917769
|
|
NM_001330260.2(SCN8A):c.3250A>G (p.Met1084Val)
|
rs2138868851
|
|
NM_001330260.2(SCN8A):c.3562C>T (p.Arg1188Trp)
|
rs1430513260
|
|
NM_001330260.2(SCN8A):c.3563G>A (p.Arg1188Gln)
|
rs1555226375
|
|
NM_001330260.2(SCN8A):c.3942+1G>T
|
rs2138892902
|
|
NM_001330260.2(SCN8A):c.3955G>T (p.Ala1319Ser)
|
rs796053214
|
|
NM_001330260.2(SCN8A):c.3967G>A (p.Ala1323Thr)
|
rs794727361
|
|
NM_001330260.2(SCN8A):c.3967G>T (p.Ala1323Ser)
|
rs794727361
|
|
NM_001330260.2(SCN8A):c.3995T>C (p.Leu1332Pro)
|
rs2138904112
|
|
NM_001330260.2(SCN8A):c.4007T>C (p.Ile1336Thr)
|
rs1938093232
|
|
NM_001330260.2(SCN8A):c.4219C>T (p.Leu1407Phe)
|
rs2138904598
|
|
NM_001330260.2(SCN8A):c.4237A>G (p.Lys1413Glu)
|
rs1555228668
|
|
NM_001330260.2(SCN8A):c.4264G>A (p.Ala1422Thr)
|
rs2138908345
|
|
NM_001330260.2(SCN8A):c.4328A>G (p.Tyr1443Cys)
|
rs2138909536
|
|
NM_001330260.2(SCN8A):c.4391T>C (p.Ile1464Thr)
|
rs2138909658
|
|
NM_001330260.2(SCN8A):c.4393G>A (p.Asp1465Asn)
|
rs1938178701
|
|
NM_001330260.2(SCN8A):c.4399T>G (p.Phe1467Val)
|
|
|
NM_001330260.2(SCN8A):c.4403A>G (p.Asn1468Ser)
|
rs1057518667
|
|
NM_001330260.2(SCN8A):c.4408C>A (p.Gln1470Lys)
|
|
|
NM_001330260.2(SCN8A):c.4409A>C (p.Gln1470Pro)
|
rs1555228771
|
|
NM_001330260.2(SCN8A):c.4409A>G (p.Gln1470Arg)
|
rs1555228771
|
|
NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)
|
rs796053216
|
|
NM_001330260.2(SCN8A):c.4423G>C (p.Gly1475Arg)
|
rs796053216
|
|
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser)
|
rs1064793263
|
|
NM_001330260.2(SCN8A):c.4436T>C (p.Ile1479Thr)
|
rs1938214529
|
|
NM_001330260.2(SCN8A):c.4475T>C (p.Met1492Thr)
|
|
|
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu)
|
rs1555228931
|
|
NM_001330260.2(SCN8A):c.4501C>T (p.Gln1501Ter)
|
rs1057520149
|
|
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe)
|
rs1555229496
|
|
NM_001330260.2(SCN8A):c.4774G>A (p.Val1592Ile)
|
rs587780454
|
|
NM_001330260.2(SCN8A):c.4774G>C (p.Val1592Leu)
|
rs587780454
|
|
NM_001330260.2(SCN8A):c.4819G>A (p.Glu1607Lys)
|
rs1555230905
|
|
NM_001330260.2(SCN8A):c.4840A>G (p.Thr1614Ala)
|
rs1555230909
|
|
NM_001330260.2(SCN8A):c.4841C>A (p.Thr1614Asn)
|
|
|
NM_001330260.2(SCN8A):c.4850G>T (p.Arg1617Leu)
|
rs587777721
|
|
NM_001330260.2(SCN8A):c.4871T>G (p.Ile1624Ser)
|
|
|
NM_001330260.2(SCN8A):c.4877G>A (p.Arg1626His)
|
|
|
NM_001330260.2(SCN8A):c.4880T>A (p.Ile1627Asn)
|
rs1938702028
|
|
NM_001330260.2(SCN8A):c.4880T>C (p.Ile1627Thr)
|
|
|
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser)
|
rs1555230928
|
|
NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr)
|
rs1085307999
|
|
NM_001330260.2(SCN8A):c.4933A>G (p.Met1645Val)
|
rs1938703803
|
|
NM_001330260.2(SCN8A):c.4935G>T (p.Met1645Ile)
|
|
|
NM_001330260.2(SCN8A):c.4944G>C (p.Leu1648Phe)
|
rs773587801
|
|
NM_001330260.2(SCN8A):c.4948G>C (p.Ala1650Pro)
|
|
|
NM_001330260.2(SCN8A):c.4948G>T (p.Ala1650Ser)
|
rs879255709
|
|
NM_001330260.2(SCN8A):c.4949C>A (p.Ala1650Asp)
|
rs796053224
|
|
NM_001330260.2(SCN8A):c.5272G>A (p.Val1758Met)
|
|
|
NM_001330260.2(SCN8A):c.5276A>G (p.Asn1759Ser)
|
rs869312690
|
|
NM_001330260.2(SCN8A):c.5278A>G (p.Met1760Val)
|
rs1938712937
|
|
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr)
|
rs1555231012
|
|
NM_001330260.2(SCN8A):c.5297T>G (p.Leu1766Arg)
|
rs1938713472
|
|
NM_001330260.2(SCN8A):c.5333A>G (p.Asp1778Gly)
|
rs1938714598
|
|
NM_001330260.2(SCN8A):c.5360C>A (p.Thr1787Asn)
|
rs1131691830
|
|
NM_001330260.2(SCN8A):c.5538C>A (p.Asp1846Glu)
|
rs1938721157
|
|
NM_001330260.2(SCN8A):c.5579_5599dup (p.Arg1866_Gln1867insArgGluLeuAspIleLeuArg)
|
rs2138944020
|
|
NM_001330260.2(SCN8A):c.5605A>G (p.Met1869Val)
|
rs2138944124
|
|
NM_001330260.2(SCN8A):c.5606T>C (p.Met1869Thr)
|
rs1064794727
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
NM_001330260.2(SCN8A):c.5816C>T (p.Pro1939Leu)
|
|
|
NM_001330260.2(SCN8A):c.614C>A (p.Ala205Glu)
|
rs796053233
|
|
NM_001330260.2(SCN8A):c.718A>T (p.Ile240Phe)
|
rs1064793923
|
|
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)
|
rs1592387849
|
|
NM_001330260.2(SCN8A):c.737A>G (p.Gln246Arg)
|
|
|
NM_001330260.2(SCN8A):c.761T>G (p.Val254Gly)
|
rs2138735599
|
|
NM_001330260.2(SCN8A):c.765G>T (p.Met255Ile)
|
rs1941650264
|
|
NM_001330260.2(SCN8A):c.773C>T (p.Thr258Ile)
|
rs1555218630
|
|
NM_001330260.2(SCN8A):c.778T>G (p.Phe260Val)
|
|
|
NM_001330260.2(SCN8A):c.796G>A (p.Ala266Thr)
|
rs1941650760
|
|
NM_001330260.2(SCN8A):c.800T>C (p.Leu267Ser)
|
rs878853250
|
|
NM_001330260.2(SCN8A):c.828C>A (p.Asn276Lys)
|
rs2138735794
|
|
NM_001330260.2(SCN8A):c.828C>G (p.Asn276Lys)
|
|
|
NM_001330260.2(SCN8A):c.844_845del (p.Val282fs)
|
|
|
NM_001330260.2(SCN8A):c.929-2A>G
|
|
|
NM_001330260.2(SCN8A):c.971G>A (p.Cys324Tyr)
|
rs2138739035
|
|
NM_001330260.2(SCN8A):c.986A>G (p.Asp329Gly)
|
rs1592389210
|
|
NM_001330574.2(ZNF711):c.1377dup (p.Tyr460fs)
|
rs1555974716
|
|
NM_001330574.2(ZNF711):c.2217del (p.Lys739fs)
|
|
|
NM_001330574.2(ZNF711):c.731T>C (p.Ile244Thr)
|
rs1060505033
|
|
NM_001330574.2(ZNF711):c.97dup (p.Thr33fs)
|
rs1555970404
|
|
NM_001330700.2(TOP2B):c.187C>T (p.His63Tyr)
|
rs886039770
|
|
NM_001331036.3(ELF2):c.10G>A (p.Ala4Thr)
|
rs747574524
|
|
NM_001347721.2(DYRK1A):c.1000_1001del (p.Asp334fs)
|
rs2148619635
|
|
NM_001347721.2(DYRK1A):c.1009T>C (p.Ser337Pro)
|
rs724159951
|
|
NM_001347721.2(DYRK1A):c.1010C>T (p.Ser337Phe)
|
rs1555985649
|
|
NM_001347721.2(DYRK1A):c.1072-1G>A
|
|
|
NM_001347721.2(DYRK1A):c.1072-2A>T
|
rs2053260627
|
|
NM_001347721.2(DYRK1A):c.1072del
|
|
|
NM_001347721.2(DYRK1A):c.1212_1213insTAA (p.Glu405Ter)
|
|
|
NM_001347721.2(DYRK1A):c.1213-2A>G
|
rs1601315812
|
|
NM_001347721.2(DYRK1A):c.1224dup (p.Pro409fs)
|
|
|
NM_001347721.2(DYRK1A):c.1235G>A (p.Arg412His)
|
rs202011970
|
|
NM_001347721.2(DYRK1A):c.1373G>A (p.Arg458Gln)
|
rs797045041
|
|
NM_001347721.2(DYRK1A):c.1378del (p.Gln460fs)
|
rs1555990958
|
|
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn)
|
rs724159955
|
|
NM_001347721.2(DYRK1A):c.1837C>T (p.Gln613Ter)
|
|
|
NM_001347721.2(DYRK1A):c.196_200del (p.Pro65_Leu66insTer)
|
|
|
NM_001347721.2(DYRK1A):c.208dup (p.Arg70fs)
|
|
|
NM_001347721.2(DYRK1A):c.301-2A>C
|
|
|
NM_001347721.2(DYRK1A):c.471del (p.Gly159fs)
|
rs2052612564
|
|
NM_001347721.2(DYRK1A):c.476G>T (p.Gly159Val)
|
rs1064796406
|
|
NM_001347721.2(DYRK1A):c.490-1G>C
|
|
|
NM_001347721.2(DYRK1A):c.506A>G (p.Asp169Gly)
|
rs1131691866
|
|
NM_001347721.2(DYRK1A):c.536A>T (p.Lys179Ile)
|
rs797044524
|
|
NM_001347721.2(DYRK1A):c.536_538del (p.Lys179del)
|
rs2052872878
|
|
NM_001347721.2(DYRK1A):c.545_548del (p.Lys182fs)
|
rs1064796367
|
|
NM_001347721.2(DYRK1A):c.593T>C (p.Leu198Pro)
|
|
|
NM_001347721.2(DYRK1A):c.637+2_637+13del
|
|
|
NM_001347721.2(DYRK1A):c.638-1G>T
|
rs2148612254
|
|
NM_001347721.2(DYRK1A):c.638-6T>C
|
rs2148612226
|
|
NM_001347721.2(DYRK1A):c.638-9_638-5del
|
|
|
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter)
|
rs780441716
|
|
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg)
|
rs797044525
|
|
NM_001347721.2(DYRK1A):c.827A>G (p.His276Arg)
|
rs2148612918
|
|
NM_001347721.2(DYRK1A):c.830G>A (p.Cys277Tyr)
|
rs2148612925
|
|
NM_001347721.2(DYRK1A):c.840del (p.Lys280fs)
|
|
|
NM_001347721.2(DYRK1A):c.856C>T (p.Leu286Phe)
|
rs797044526
|
|
NM_001347721.2(DYRK1A):c.887T>G (p.Ile296Arg)
|
rs2148613074
|
|
NM_001347721.2(DYRK1A):c.895T>G (p.Phe299Val)
|
rs797045540
|
|
NM_001347721.2(DYRK1A):c.896T>C (p.Phe299Ser)
|
rs1569376809
|
|
NM_001347721.2(DYRK1A):c.924+1G>A
|
rs2148613196
|
|
NM_001347721.2(DYRK1A):c.924+4_924+7del
|
rs1555984461
|
|
NM_001347721.2(DYRK1A):c.925-1G>C
|
rs2148619382
|
|
NM_001347721.2(DYRK1A):c.931_932del (p.Gln311fs)
|
rs2148619406
|
|
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg)
|
rs1569380375
|
|
NM_001347721.2(DYRK1A):c.948_949insGG (p.Phe317fs)
|
|
|
NM_001347721.2(DYRK1A):c.953A>G (p.Tyr318Cys)
|
rs1555985554
|
|
NM_001348323.3(TRIP12):c.2625_2629del (p.Asn876fs)
|
|
|
NM_001348323.3(TRIP12):c.2679_2685del (p.Asp893fs)
|
|
|
NM_001348323.3(TRIP12):c.2764_2767dup (p.Ser923Ter)
|
|
|
NM_001348323.3(TRIP12):c.3586C>T (p.Gln1196Ter)
|
rs2043168875
|
|
NM_001348323.3(TRIP12):c.3808del (p.Ser1270fs)
|
rs2042881907
|
|
NM_001348323.3(TRIP12):c.4053_4054del (p.Ala1352fs)
|
rs2041937196
|
|
NM_001348323.3(TRIP12):c.4642CTT[1] (p.Leu1550del)
|
|
|
NM_001348323.3(TRIP12):c.4838+2T>G
|
rs2040714903
|
|
NM_001348323.3(TRIP12):c.4864C>T (p.Arg1622Trp)
|
rs1320218400
|
|
NM_001348323.3(TRIP12):c.4903C>T (p.Arg1635Ter)
|
rs1574994308
|
|
NM_001348323.3(TRIP12):c.4904G>A (p.Arg1635Gln)
|
rs2154255374
|
|
NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu)
|
rs1468657712
|
|
NM_001348323.3(TRIP12):c.5030C>T (p.Ala1677Val)
|
|
|
NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs)
|
rs2154245501
|
|
NM_001348323.3(TRIP12):c.5801C>T (p.Pro1934Leu)
|
|
|
NM_001348323.3(TRIP12):c.6096_6109dup (p.Tyr2037Ter)
|
|
|
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu)
|
rs2032214426
|
|
NM_001348800.3(ZBTB20):c.1499_1511del (p.Ile500fs)
|
rs2108202536
|
|
NM_001348800.3(ZBTB20):c.391_397delinsAA (p.Asp131fs)
|
rs1576288424
|
|
NM_001348946.2(ABCB1):c.2678C>A (p.Ser893Tyr)
|
rs2117129739
|
|
NM_001349338.3(FOXP1):c.1000G>C (p.Asp334His)
|
rs1576028676
|
|
NM_001349338.3(FOXP1):c.1078_1079del (p.Glu360fs)
|
|
|
NM_001349338.3(FOXP1):c.1103dup (p.His368fs)
|
rs2040036225
|
|
NM_001349338.3(FOXP1):c.1146+1G>C
|
rs1559650552
|
|
NM_001349338.3(FOXP1):c.1147-2A>G
|
rs1559621862
|
|
NM_001349338.3(FOXP1):c.1201C>T (p.Gln401Ter)
|
rs1234028937
|
|
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs)
|
rs1064793130
|
|
NM_001349338.3(FOXP1):c.1267_1268del (p.Val423fs)
|
rs786200948
|
|
NM_001349338.3(FOXP1):c.1348+2T>C
|
rs1057518999
|
|
NM_001349338.3(FOXP1):c.1349-1G>A
|
|
|
NM_001349338.3(FOXP1):c.1393A>G (p.Arg465Gly)
|
rs869025202
|
|
NM_001349338.3(FOXP1):c.1396C>G (p.Pro466Ala)
|
rs1057518926
|
|
NM_001349338.3(FOXP1):c.1406C>T (p.Thr469Ile)
|
rs2037853932
|
|
NM_001349338.3(FOXP1):c.1427A>C (p.Gln476Pro)
|
rs2107310071
|
|
NM_001349338.3(FOXP1):c.1429-13_1429-3del
|
rs1559617016
|
|
NM_001349338.3(FOXP1):c.1429-1G>A
|
|
|
NM_001349338.3(FOXP1):c.1451del (p.Lys484fs)
|
|
|
NM_001349338.3(FOXP1):c.1458_1461dup (p.Leu488fs)
|
rs2037704254
|
|
NM_001349338.3(FOXP1):c.1475A>G (p.Tyr492Cys)
|
rs2037702385
|
|
NM_001349338.3(FOXP1):c.1506C>G (p.Phe502Leu)
|
rs1057524152
|
|
NM_001349338.3(FOXP1):c.1534dup (p.Ala512fs)
|
rs2107201851
|
|
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)
|
rs869025203
|
|
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)
|
rs797045586
|
|
NM_001349338.3(FOXP1):c.1541G>C (p.Arg514Pro)
|
rs797045586
|
|
NM_001349338.3(FOXP1):c.1544A>G (p.His515Arg)
|
rs2036511353
|
|
NM_001349338.3(FOXP1):c.1550T>G (p.Leu517Arg)
|
rs1575757812
|
|
NM_001349338.3(FOXP1):c.1552dup (p.Ser518fs)
|
|
|
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser)
|
rs1559602593
|
|
NM_001349338.3(FOXP1):c.1652+5G>A
|
rs794727216
|
|
NM_001349338.3(FOXP1):c.1652+5G>C
|
rs794727216
|
|
NM_001349338.3(FOXP1):c.1722+5G>C
|
|
|
NM_001349338.3(FOXP1):c.1729_1730delinsTGAA (p.Met577Ter)
|
|
|
NM_001349338.3(FOXP1):c.427del (p.Leu143fs)
|
|
|
NM_001349338.3(FOXP1):c.484C>T (p.Gln162Ter)
|
rs2107113697
|
|
NM_001349338.3(FOXP1):c.659dup (p.Gln221fs)
|
rs2049106504
|
|
NM_001349338.3(FOXP1):c.869G>C (p.Ser290Thr)
|
rs2106869182
|
|
NM_001349338.3(FOXP1):c.910G>T (p.Gly304Ter)
|
|
|
NM_001349798.2(FBXW7):c.1393C>G (p.Arg465Gly)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1393C>T (p.Arg465Cys)
|
rs867384286
|
|
NM_001349798.2(FBXW7):c.1394G>A (p.Arg465His)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>C (p.Arg465Pro)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1394G>T (p.Arg465Leu)
|
rs1057519895
|
|
NM_001349798.2(FBXW7):c.1439A>G (p.Asp480Gly)
|
rs2126497313
|
|
NM_001351132.2(PEX5):c.135_147+32del
|
|
|
NM_001351132.2(PEX5):c.135_147+33delinsC
|
rs2135880243
|
|
NM_001351132.2(PEX5):c.138del (p.Ser47fs)
|
|
|
NM_001351132.2(PEX5):c.147+2T>G
|
|
|
NM_001351132.2(PEX5):c.147+4A>G
|
|
|
NM_001351132.2(PEX5):c.1561-2A>G
|
rs2136254229
|
|
NM_001351132.2(PEX5):c.317-2A>G
|
rs2135903939
|
|
NM_001351132.2(PEX5):c.552-1G>A
|
rs1064793563
|
|
NM_001351132.2(PEX5):c.753+1G>A
|
|
|
NM_001351132.2(PEX5):c.753+2T>C
|
|
|
NM_001351132.2(PEX5):c.754-2A>C
|
|
|
NM_001351132.2(PEX5):c.846+1G>A
|
|
|
NM_001351132.2(PEX5):c.847-2A>G
|
|
|
NM_001351132.2(PEX5):c.847-7_861del
|
|
|
NM_001351132.2(PEX5):c.966+1G>C
|
rs2136176386
|
|
NM_001351132.2(PEX5):c.967-1G>A
|
|
|
NM_001351132.2(PEX5):c.967-1_971del
|
|
|
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
|
|
|
NM_001352514.2(HLCS):c.1016_1017del (p.Ile339fs)
|
|
|
NM_001352514.2(HLCS):c.1041del (p.Leu348fs)
|
|
|
NM_001352514.2(HLCS):c.1045G>T (p.Glu349Ter)
|
rs148324626
|
|
NM_001352514.2(HLCS):c.1045del (p.Glu349fs)
|
|
|
NM_001352514.2(HLCS):c.1063_1064del (p.Asp355fs)
|
|
|
NM_001352514.2(HLCS):c.1083T>A (p.Cys361Ter)
|
|
|
NM_001352514.2(HLCS):c.1132C>T (p.Gln378Ter)
|
rs1481968221
|
|
NM_001352514.2(HLCS):c.1133del (p.Gln378fs)
|
|
|
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1151T>G (p.Leu384Arg)
|
rs119103227
|
|
NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala)
|
rs1057516035
|
|
NM_001352514.2(HLCS):c.1219_1222dup (p.Gly408fs)
|
|
|
NM_001352514.2(HLCS):c.1223dup (p.Ala409fs)
|
|
|
NM_001352514.2(HLCS):c.1250T>A (p.Leu417Ter)
|
rs2066894484
|
|
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
|
|
|
NM_001352514.2(HLCS):c.1276G>T (p.Glu426Ter)
|
|
|
NM_001352514.2(HLCS):c.1289del (p.Ser430fs)
|
|
|
NM_001352514.2(HLCS):c.1302_1303insC (p.Gly435fs)
|
|
|
NM_001352514.2(HLCS):c.1315del (p.Gln439fs)
|
|
|
NM_001352514.2(HLCS):c.1326del (p.Val443fs)
|
|
|
NM_001352514.2(HLCS):c.1351C>T (p.Gln451Ter)
|
|
|
NM_001352514.2(HLCS):c.1358_1359del (p.His453fs)
|
|
|
NM_001352514.2(HLCS):c.1404del (p.Phe468fs)
|
|
|
NM_001352514.2(HLCS):c.1418dup (p.Glu474fs)
|
rs1555955827
|
|
NM_001352514.2(HLCS):c.1434C>A (p.Cys478Ter)
|
rs2066882139
|
|
NM_001352514.2(HLCS):c.1437+1G>A
|
|
|
NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)
|
rs1198548955
|
|
NM_001352514.2(HLCS):c.1466_1472delinsGCA (p.Asn489fs)
|
|
|
NM_001352514.2(HLCS):c.1524C>G (p.Tyr508Ter)
|
|
|
NM_001352514.2(HLCS):c.1550_1551insT (p.Leu518fs)
|
|
|
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)
|
rs1393866282
|
|
NM_001352514.2(HLCS):c.1600_1604del (p.Tyr534fs)
|
|
|
NM_001352514.2(HLCS):c.1610C>A (p.Ser537Ter)
|
|
|
NM_001352514.2(HLCS):c.1610C>G (p.Ser537Ter)
|
|
|
NM_001352514.2(HLCS):c.1620+1G>A
|
rs1555951858
|
|
NM_001352514.2(HLCS):c.1621-1G>C
|
rs1164174059
|
|
NM_001352514.2(HLCS):c.1621-2A>T
|
|
|
NM_001352514.2(HLCS):c.1631del (p.Asp544fs)
|
|
|
NM_001352514.2(HLCS):c.1642C>T (p.Gln548Ter)
|
rs2065045000
|
|
NM_001352514.2(HLCS):c.1646G>A (p.Trp549Ter)
|
rs1342457304
|
|
NM_001352514.2(HLCS):c.1658_1659del (p.His553fs)
|
|
|
NM_001352514.2(HLCS):c.1699_1700del (p.Ser566_Leu567insTer)
|
rs1555930523
|
|
NM_001352514.2(HLCS):c.1705_1733dup (p.Glu578delinsAspLeuPheHisProThrCysLeuLysTer)
|
|
|
NM_001352514.2(HLCS):c.1719C>A (p.Tyr573Ter)
|
rs148814769
|
|
NM_001352514.2(HLCS):c.1752_1759delinsTTT (p.Pro585fs)
|
|
|
NM_001352514.2(HLCS):c.1759_1760insCC (p.Val587fs)
|
|
|
NM_001352514.2(HLCS):c.1771G>T (p.Glu591Ter)
|
rs2065038117
|
|
NM_001352514.2(HLCS):c.1781C>G (p.Ser594Ter)
|
rs973578825
|
|
NM_001352514.2(HLCS):c.1858_1868del (p.Glu620fs)
|
|
|
NM_001352514.2(HLCS):c.1869del (p.Thr624fs)
|
rs2065031709
|
|
NM_001352514.2(HLCS):c.1892+1G>A
|
|
|
NM_001352514.2(HLCS):c.1902_1903del (p.Phe634fs)
|
|
|
NM_001352514.2(HLCS):c.1942del (p.Arg648fs)
|
|
|
NM_001352514.2(HLCS):c.1957A>T (p.Lys653Ter)
|
rs2090069178
|
|
NM_001352514.2(HLCS):c.1960+1G>A
|
rs2090068896
|
|
NM_001352514.2(HLCS):c.1961-2A>G
|
|
|
NM_001352514.2(HLCS):c.1974T>A (p.Asn658Lys)
|
|
|
NM_001352514.2(HLCS):c.2044G>T (p.Gly682Ter)
|
rs1324486146
|
|
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)
|
rs119103231
|
|
NM_001352514.2(HLCS):c.2092del (p.Glu698fs)
|
|
|
NM_001352514.2(HLCS):c.2114_2121+5del
|
|
|
NM_001352514.2(HLCS):c.2185G>A (p.Gly729Arg)
|
|
|
NM_001352514.2(HLCS):c.2201C>G (p.Ser734Ter)
|
rs2089755918
|
|
NM_001352514.2(HLCS):c.2237-2A>G
|
|
|
NM_001352514.2(HLCS):c.2237-56_2255del
|
rs2145732111
|
|
NM_001352514.2(HLCS):c.2280dup (p.Asn761fs)
|
rs1555882068
|
|
NM_001352514.2(HLCS):c.2341G>T (p.Asp781Tyr)
|
|
|
NM_001352514.2(HLCS):c.2450+2T>A
|
|
|
NM_001352514.2(HLCS):c.331-1G>C
|
|
|
NM_001352514.2(HLCS):c.476dup (p.Pro160fs)
|
|
|
NM_001352514.2(HLCS):c.494-1G>A
|
|
|
NM_001352514.2(HLCS):c.494-2A>T
|
|
|
NM_001352514.2(HLCS):c.513dup (p.Thr172fs)
|
|
|
NM_001352514.2(HLCS):c.542C>A (p.Ser181Ter)
|
rs2066942076
|
|
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)
|
rs1064796014
|
|
NM_001352514.2(HLCS):c.616del (p.Glu206fs)
|
|
|
NM_001352514.2(HLCS):c.664_667del (p.Gln222fs)
|
rs776431253
|
|
NM_001352514.2(HLCS):c.687del (p.Ser230fs)
|
|
|
NM_001352514.2(HLCS):c.726dup (p.Val243fs)
|
|
|
NM_001352514.2(HLCS):c.759C>A (p.Cys253Ter)
|
|
|
NM_001352514.2(HLCS):c.774_775insTGTTCTCGGCAGACGCAAA (p.Leu259fs)
|
|
|
NM_001352514.2(HLCS):c.794_795del (p.Glu265fs)
|
|
|
NM_001352514.2(HLCS):c.821_822insTTCCATTG (p.Ile275fs)
|
|
|
NM_001352514.2(HLCS):c.840C>A (p.Tyr280Ter)
|
rs779907293
|
|
NM_001352514.2(HLCS):c.857T>A (p.Leu286Ter)
|
rs144572349
|
|
NM_001352514.2(HLCS):c.857del (p.Leu286fs)
|
|
|
NM_001352514.2(HLCS):c.863del (p.Ser288fs)
|
rs1015594025
|
|
NM_001352514.2(HLCS):c.886G>T (p.Glu296Ter)
|
rs760029192
|
|
NM_001352514.2(HLCS):c.929del (p.Asn310fs)
|
|
|
NM_001352514.2(HLCS):c.958del (p.Gln320fs)
|
|
|
NM_001352514.2(HLCS):c.958dup (p.Gln320fs)
|
|
|
NM_001352514.2(HLCS):c.978_979insTGTCTCTTATACACAT (p.His327fs)
|
|
|
NM_001352913.2(PPP2R5C):c.529G>A (p.Glu177Lys)
|
rs1595460164
|
|
NM_001353345.2(SETD1B):c.1526_1527del (p.Glu509fs)
|
rs1592977444
|
|
NM_001353921.2(ARHGEF9):c.1078-3T>G
|
|
|
NM_001353921.2(ARHGEF9):c.30+1G>A
|
|
|
NM_001353921.2(ARHGEF9):c.331C>T (p.Arg111Trp)
|
|
|
NM_001353921.2(ARHGEF9):c.332G>A (p.Arg111Gln)
|
rs1556401714
|
|
NM_001353921.2(ARHGEF9):c.334del (p.Ala112fs)
|
|
|
NM_001353921.2(ARHGEF9):c.375C>A (p.Tyr125Ter)
|
rs2052539418
|
|
NM_001353921.2(ARHGEF9):c.402+1G>A
|
rs2052538764
|
|
NM_001353921.2(ARHGEF9):c.419G>A (p.Cys140Tyr)
|
|
|
NM_001353921.2(ARHGEF9):c.562G>C (p.Gly188Arg)
|
rs1556389083
|
|
NM_001353921.2(ARHGEF9):c.890G>A (p.Arg297His)
|
|
|
NM_001353921.2(ARHGEF9):c.921G>A (p.Trp307Ter)
|
|
|
NM_001354604.2(MITF):c.950A>G (p.Asn317Ser)
|
rs2066265350
|
|
NM_001356.5(DDX3X):c.103+6T>G
|
rs2147340616
|
|
NM_001356.5(DDX3X):c.1045G>A (p.Ala349Thr)
|
|
|
NM_001356.5(DDX3X):c.1052G>A (p.Arg351Gln)
|
rs1057518707
|
|
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)
|
rs796052231
|
|
NM_001356.5(DDX3X):c.113A>G (p.Tyr38Cys)
|
rs1555951993
|
|
NM_001356.5(DDX3X):c.1155del (p.Pro386fs)
|
|
|
NM_001356.5(DDX3X):c.1171-2A>C
|
rs2147356545
|
|
NM_001356.5(DDX3X):c.1175T>C (p.Leu392Pro)
|
rs796052232
|
|
NM_001356.5(DDX3X):c.1177G>C (p.Ala393Pro)
|
|
|
NM_001356.5(DDX3X):c.1180_1185dup (p.Arg394_Asp395dup)
|
rs1602134468
|
|
NM_001356.5(DDX3X):c.119C>T (p.Pro40Leu)
|
|
|
NM_001356.5(DDX3X):c.121C>T (p.Pro41Ser)
|
rs1064793796
|
|
NM_001356.5(DDX3X):c.1241dup (p.Asn414fs)
|
|
|
NM_001356.5(DDX3X):c.1249C>G (p.Gln417Glu)
|
rs2147356661
|
|
NM_001356.5(DDX3X):c.1250A>G (p.Gln417Arg)
|
|
|
NM_001356.5(DDX3X):c.1292T>G (p.Leu431Arg)
|
|
|
NM_001356.5(DDX3X):c.1304T>C (p.Leu435Pro)
|
rs2063911698
|
|
NM_001356.5(DDX3X):c.1315+1G>A
|
rs2063911832
|
|
NM_001356.5(DDX3X):c.1343T>A (p.Val448Glu)
|
rs2063922414
|
|
NM_001356.5(DDX3X):c.1415A>G (p.His472Arg)
|
rs2063923221
|
|
NM_001356.5(DDX3X):c.1423C>T (p.Arg475Cys)
|
rs1064794574
|
|
NM_001356.5(DDX3X):c.1438A>G (p.Arg480Gly)
|
rs1064796827
|
|
NM_001356.5(DDX3X):c.1454A>C (p.His485Pro)
|
rs2063923789
|
|
NM_001356.5(DDX3X):c.1461C>G (p.Phe487Leu)
|
|
|
NM_001356.5(DDX3X):c.1463G>A (p.Arg488His)
|
rs796052235
|
|
NM_001356.5(DDX3X):c.1466C>G (p.Ser489Ter)
|
|
|
NM_001356.5(DDX3X):c.1486G>A (p.Val496Met)
|
rs1555954154
|
|
NM_001356.5(DDX3X):c.1487T>G (p.Val496Gly)
|
|
|
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val)
|
rs796052236
|
|
NM_001356.5(DDX3X):c.1537G>C (p.Val513Leu)
|
rs2063927856
|
|
NM_001356.5(DDX3X):c.1541T>C (p.Ile514Thr)
|
rs796052226
|
|
NM_001356.5(DDX3X):c.1543A>G (p.Asn515Asp)
|
rs2063928003
|
|
NM_001356.5(DDX3X):c.1563dup (p.Ile522fs)
|
rs1602136369
|
|
NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)
|
|
|
NM_001356.5(DDX3X):c.1575T>A (p.Tyr525Ter)
|
rs766409654
|
|
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys)
|
rs1064795323
|
|
NM_001356.5(DDX3X):c.1595C>T (p.Thr532Met)
|
rs1064795387
|
|
NM_001356.5(DDX3X):c.1600C>T (p.Arg534Cys)
|
rs1555954284
|
|
NM_001356.5(DDX3X):c.1628C>T (p.Ser543Leu)
|
rs2147359928
|
|
NM_001356.5(DDX3X):c.1675CTT[1] (p.Leu560del)
|
rs1555954380
|
|
NM_001356.5(DDX3X):c.1695A>C (p.Gln565His)
|
|
|
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)
|
rs1602126980
|
|
NM_001356.5(DDX3X):c.1852_1866del (p.Ala618_Arg622del)
|
|
|
NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)
|
|
|
NM_001356.5(DDX3X):c.525T>A (p.Cys175Ter)
|
rs61755357
|
|
NM_001356.5(DDX3X):c.543+3_543+6del
|
rs2063869050
|
|
NM_001356.5(DDX3X):c.544-8_544-6del
|
rs2063875026
|
|
NM_001356.5(DDX3X):c.544T>G (p.Phe182Val)
|
rs2063875155
|
|
NM_001356.5(DDX3X):c.577G>T (p.Gly193Ter)
|
rs875989803
|
|
NM_001356.5(DDX3X):c.584T>C (p.Ile195Thr)
|
|
|
NM_001356.5(DDX3X):c.599A>G (p.Tyr200Cys)
|
|
|
NM_001356.5(DDX3X):c.765+2T>G
|
rs2147352999
|
|
NM_001356.5(DDX3X):c.820C>T (p.Pro274Ser)
|
rs1267519974
|
|
NM_001356.5(DDX3X):c.828dup (p.Glu277fs)
|
|
|
NM_001356.5(DDX3X):c.830_831del (p.Glu277fs)
|
rs1602131859
|
|
NM_001356.5(DDX3X):c.833dup (p.Leu278fs)
|
rs1602131872
|
|
NM_001356.5(DDX3X):c.864+2T>G
|
|
|
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)
|
rs1555953488
|
|
NM_001356.5(DDX3X):c.887G>A (p.Arg296His)
|
|
|
NM_001356.5(DDX3X):c.887G>C (p.Arg296Pro)
|
rs1602132216
|
|
NM_001356.5(DDX3X):c.904G>A (p.Gly302Ser)
|
rs875989802
|
|
NM_001356.5(DDX3X):c.959TAG[1] (p.Val321del)
|
rs1555953527
|
|
NM_001356.5(DDX3X):c.965C>T (p.Ala322Val)
|
|
|
NM_001365536.1(SCN9A):c.1314+1G>A
|
|
|
NM_001365536.1(SCN9A):c.1314+1G>T
|
rs1295192882
|
|
NM_001365536.1(SCN9A):c.1602+1G>A
|
rs2106486889
|
|
NM_001365536.1(SCN9A):c.1602+1_1602+2insTGTCGAAGGGCATAGGCGAGCACATGAAAAGAGGTTGTCTACCCCCAATCAGGAC
|
|
|
NM_001365536.1(SCN9A):c.2344-2A>G
|
rs1697328487
|
|
NM_001365536.1(SCN9A):c.2518-1G>T
|
rs2106469561
|
|
NM_001365536.1(SCN9A):c.258+2T>C
|
|
|
NM_001365536.1(SCN9A):c.2875-1G>A
|
|
|
NM_001365536.1(SCN9A):c.3351+2T>G
|
|
|
NM_001365536.1(SCN9A):c.3427G>C (p.Ala1143Pro)
|
|
|
NM_001365536.1(SCN9A):c.3628-1G>A
|
|
|
NM_001365536.1(SCN9A):c.3796_3801+23del
|
rs1471163637
|
|
NM_001365536.1(SCN9A):c.3924+1G>C
|
rs2106395478
|
|
NM_001365536.1(SCN9A):c.3925-2A>G
|
rs532631248
|
|
NM_001365536.1(SCN9A):c.4398+2T>C
|
rs2106383164
|
|
NM_001365536.1(SCN9A):c.4399-1C>T
|
rs1283839545
|
|
NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn)
|
rs121908914
|
|
NM_001365536.1(SCN9A):c.4503+1G>A
|
rs746241591
|
|
NM_001365536.1(SCN9A):c.468-1G>C
|
|
|
NM_001365536.1(SCN9A):c.468-1G>T
|
|
|
NM_001365536.1(SCN9A):c.5876A>C (p.Asp1959Ala)
|
rs1060502047
|
|
NM_001365536.1(SCN9A):c.596+1G>T
|
rs201560701
|
|
NM_001365536.1(SCN9A):c.596+1del
|
|
|
NM_001365536.1(SCN9A):c.965+1G>T
|
rs1698219355
|
|
NM_001365902.3(NFIX):c.316T>C (p.Ser106Pro)
|
rs2013246660
|
|
NM_001365902.3(NFIX):c.477dup (p.Gly160fs)
|
rs2013265950
|
|
NM_001365999.1(SZT2):c.1091-1G>A
|
rs1652173183
|
|
NM_001365999.1(SZT2):c.1108_1111del (p.Phe370fs)
|
|
|
NM_001365999.1(SZT2):c.1513C>T (p.Gln505Ter)
|
|
|
NM_001365999.1(SZT2):c.153+1G>A
|
rs1649902998
|
|
NM_001365999.1(SZT2):c.4699del (p.Leu1567fs)
|
|
|
NM_001365999.1(SZT2):c.498G>T (p.Gln166His)
|
rs1553138869
|
|
NM_001365999.1(SZT2):c.5088+2T>C
|
rs552956642
|
|
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del)
|
rs746200792
|
|
NM_001365999.1(SZT2):c.6139C>T (p.Arg2047Ter)
|
rs766341332
|
|
NM_001365999.1(SZT2):c.7070T>A (p.Leu2357Ter)
|
|
|
NM_001365999.1(SZT2):c.7488dup (p.Asp2497fs)
|
|
|
NM_001365999.1(SZT2):c.8659C>T (p.Arg2887Ter)
|
rs200178393
|
|
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs)
|
rs745420974
|
|
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
|
rs1564493599
|
|
NM_001366521.1(ATP2B1):c.1907_1908del (p.Val636fs)
|
rs2136050284
|
|
NM_001366521.1(ATP2B1):c.2509_2512del (p.Ser837fs)
|
|
|
NM_001366521.1(ATP2B1):c.406+1G>A
|
|
|
NM_001367534.1(CAMK2G):c.676A>G (p.Ile226Val)
|
|
|
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro)
|
rs397514627
|
|
NM_001367534.1(CAMK2G):c.969dup (p.Ala324fs)
|
rs2134277165
|
|
NM_001367561.1(DOCK7):c.1005_1011del (p.Pro336fs)
|
|
|
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter)
|
rs1057520100
|
|
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter)
|
rs758111714
|
|
NM_001367561.1(DOCK7):c.1519+1G>A
|
|
|
NM_001367561.1(DOCK7):c.2200-2A>G
|
|
|
NM_001367561.1(DOCK7):c.2431+1G>A
|
|
|
NM_001367561.1(DOCK7):c.2432-2A>C
|
rs760580647
|
|
NM_001367561.1(DOCK7):c.2596+1G>C
|
|
|
NM_001367561.1(DOCK7):c.2767-1G>A
|
rs1645656856
|
|
NM_001367561.1(DOCK7):c.2949+2T>C
|
|
|
NM_001367561.1(DOCK7):c.2977T>C (p.Trp993Arg)
|
rs1645575152
|
|
NM_001367561.1(DOCK7):c.3187-31_3274del
|
rs2149393215
|
|
NM_001367561.1(DOCK7):c.4924-1G>A
|
rs2149301822
|
|
NM_001367561.1(DOCK7):c.5463dup (p.Gln1822fs)
|
rs1571266478
|
|
NM_001367561.1(DOCK7):c.5493+1G>T
|
|
|
NM_001367561.1(DOCK7):c.5724+1G>A
|
rs2149260122
|
|
NM_001367561.1(DOCK7):c.5724+1G>T
|
|
|
NM_001367561.1(DOCK7):c.5725-2A>G
|
|
|
NM_001367721.1(CASK):c.1256del (p.Tyr419fs)
|
|
|
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)
|
rs1114167352
|
|
NM_001367721.1(CASK):c.1510del (p.Thr504fs)
|
|
|
NM_001367721.1(CASK):c.1582+1G>A
|
rs2147179060
|
|
NM_001367721.1(CASK):c.1583-1G>T
|
|
|
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)
|
rs1555981717
|
|
NM_001367721.1(CASK):c.1690_1691del (p.Thr564fs)
|
|
|
NM_001367721.1(CASK):c.173-1G>A
|
|
|
NM_001367721.1(CASK):c.1837C>T (p.Arg613Ter)
|
rs779508996
|
|
NM_001367721.1(CASK):c.1910G>A (p.Gly637Asp)
|
rs1569302194
|
|
NM_001367721.1(CASK):c.1999G>T (p.Gly667Ter)
|
|
|
NM_001367721.1(CASK):c.2039+1del
|
|
|
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)
|
rs587783361
|
|
NM_001367721.1(CASK):c.2129A>G (p.Asp710Gly)
|
rs137852818
|
|
NM_001367721.1(CASK):c.2155+1G>C
|
rs1555977199
|
|
NM_001367721.1(CASK):c.2155G>A (p.Val719Met)
|
rs12842195
|
|
NM_001367721.1(CASK):c.2156-1G>A
|
rs1569291261
|
|
NM_001367721.1(CASK):c.2169A>G (p.Leu723=)
|
|
|
NM_001367721.1(CASK):c.2183A>G (p.Tyr728Cys)
|
rs398122844
|
|
NM_001367721.1(CASK):c.2317+5G>A
|
rs2147095645
|
|
NM_001367721.1(CASK):c.2342_2343del (p.Asp781fs)
|
rs1569288603
|
|
NM_001367721.1(CASK):c.2561T>C (p.Val854Ala)
|
rs1569283243
|
|
NM_001367721.1(CASK):c.2608del (p.Glu870fs)
|
|
|
NM_001367721.1(CASK):c.2678_2679del (p.Thr893fs)
|
|
|
NM_001367721.1(CASK):c.356+1G>T
|
rs2147736023
|
|
NM_001367721.1(CASK):c.359A>G (p.His120Arg)
|
rs1602550687
|
|
NM_001367721.1(CASK):c.487T>C (p.Phe163Leu)
|
rs2147495667
|
|
NM_001367721.1(CASK):c.490G>C (p.Gly164Arg)
|
rs2067197219
|
|
NM_001367721.1(CASK):c.506T>G (p.Leu169Ter)
|
rs2147495562
|
|
NM_001367721.1(CASK):c.616G>A (p.Gly206Ser)
|
rs2067099763
|
|
NM_001367721.1(CASK):c.617G>A (p.Gly206Asp)
|
rs587783367
|
|
NM_001367721.1(CASK):c.725G>A (p.Trp242Ter)
|
rs2067016221
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys)
|
rs1602424843
|
|
NM_001367721.1(CASK):c.875_877del (p.Val292del)
|
rs2066559023
|
|
NM_001367721.1(CASK):c.915+1G>A
|
rs2147368049
|
|
NM_001368397.1(FRMPD4):c.1071-1G>A
|
|
|
NM_001368397.1(FRMPD4):c.1151C>A (p.Ser384Ter)
|
rs2147144421
|
|
NM_001368397.1(FRMPD4):c.1298del (p.Lys433fs)
|
rs2041898606
|
|
NM_001368397.1(FRMPD4):c.1657T>C (p.Cys553Arg)
|
rs886038209
|
|
NM_001368397.1(FRMPD4):c.3024dup (p.Asp1009Ter)
|
|
|
NM_001368397.1(FRMPD4):c.3258del (p.Arg1087fs)
|
|
|
NM_001368397.1(FRMPD4):c.561del (p.Asn187fs)
|
|
|
NM_001369369.1(FOXN1):c.146C>T (p.Ser49Leu)
|
rs797046135
|
|
NM_001370658.1(BTD):c.-17+1G>A
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1G>C
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1G>T
|
rs1057516440
|
|
NM_001370658.1(BTD):c.-17+1del
|
rs1057517114
|
|
NM_001370658.1(BTD):c.-17_-17+3del
|
rs1050514843
|
|
NM_001370658.1(BTD):c.-18A>T
|
rs143058480
|
|
NM_001370658.1(BTD):c.-24A>T
|
|
|
NM_001370658.1(BTD):c.1025T>A (p.Leu342Ter)
|
rs747548016
|
|
NM_001370658.1(BTD):c.1069G>T (p.Glu357Ter)
|
rs1057516252
|
|
NM_001370658.1(BTD):c.1098G>A (p.Trp366Ter)
|
rs397514434
|
|
NM_001370658.1(BTD):c.1110_1111dup (p.Pro371fs)
|
rs1057517256
|
|
NM_001370658.1(BTD):c.1167_1181delinsTTCCAATGGCC (p.Trp389fs)
|
rs672601248
|
|
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)
|
rs397514404
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)
|
rs397514335
|
|
NM_001370658.1(BTD):c.1247_1248del (p.Glu416fs)
|
rs1057517225
|
|
NM_001370658.1(BTD):c.1252T>C (p.Tyr418His)
|
|
|
NM_001370658.1(BTD):c.1253A>G (p.Tyr418Cys)
|
rs397514415
|
|
NM_001370658.1(BTD):c.1254T>A (p.Tyr418Ter)
|
rs397514416
|
|
NM_001370658.1(BTD):c.1259T>C (p.Leu420Pro)
|
rs1575031012
|
|
NM_001370658.1(BTD):c.125T>C (p.Val42Ala)
|
|
|
NM_001370658.1(BTD):c.1264del (p.Val422fs)
|
rs1057517362
|
|
NM_001370658.1(BTD):c.1271A>G (p.Asp424Gly)
|
rs2065662435
|
|
NM_001370658.1(BTD):c.1279C>T (p.His427Tyr)
|
rs397514418
|
|
NM_001370658.1(BTD):c.1292_1293del (p.Gly431fs)
|
rs1553654142
|
|
NM_001370658.1(BTD):c.1298dup (p.Tyr433Ter)
|
rs1553654145
|
|
NM_001370658.1(BTD):c.1300T>G (p.Tyr434Asp)
|
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
NM_001370658.1(BTD):c.1334dup (p.Leu446fs)
|
rs397514440
|
|
NM_001370658.1(BTD):c.1350dup (p.Cys451fs)
|
rs886041559
|
|
NM_001370658.1(BTD):c.1352G>T (p.Cys451Phe)
|
|
|
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)
|
rs181396238
|
|
NM_001370658.1(BTD):c.1386dup (p.Glu463Ter)
|
|
|
NM_001370658.1(BTD):c.1387G>T (p.Glu463Ter)
|
rs1559600871
|
|
NM_001370658.1(BTD):c.1396_1415del (p.Leu466fs)
|
rs1553654178
|
|
NM_001370658.1(BTD):c.1399del (p.Trp467fs)
|
rs397514423
|
|
NM_001370658.1(BTD):c.1400G>A (p.Trp467Ter)
|
rs1277029090
|
|
NM_001370658.1(BTD):c.1401G>A (p.Trp467Ter)
|
rs1553654186
|
|
NM_001370658.1(BTD):c.1406A>G (p.Asn469Ser)
|
|
|
NM_001370658.1(BTD):c.1415C>T (p.Thr472Ile)
|
rs796051941
|
|
NM_001370658.1(BTD):c.1419del (p.Tyr474fs)
|
rs1559600938
|
|
NM_001370658.1(BTD):c.142_145dup (p.Leu49fs)
|
rs1205964567
|
|
NM_001370658.1(BTD):c.1466C>G (p.Pro489Arg)
|
rs1559601041
|
|
NM_001370658.1(BTD):c.1495dup (p.Tyr499fs)
|
rs1553654220
|
|
NM_001370658.1(BTD):c.1503del (p.Arg502fs)
|
rs1163419871
|
|
NM_001370658.1(BTD):c.1550G>A (p.Gly517Glu)
|
rs397514428
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)
|
rs1050035768
|
|
NM_001370658.1(BTD):c.167del (p.Leu56fs)
|
|
|
NM_001370658.1(BTD):c.177_178del (p.Gln60fs)
|
|
|
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)
|
rs397514348
|
|
NM_001370658.1(BTD):c.220G>T (p.Glu74Ter)
|
|
|
NM_001370658.1(BTD):c.229G>A (p.Val77Met)
|
|
|
NM_001370658.1(BTD):c.238G>A (p.Ala80Thr)
|
rs397514350
|
|
NM_001370658.1(BTD):c.250-1G>T
|
rs1553653053
|
|
NM_001370658.1(BTD):c.253G>A (p.Val85Ile)
|
|
|
NM_001370658.1(BTD):c.256C>T (p.Gln86Ter)
|
rs1553653062
|
|
NM_001370658.1(BTD):c.270del (p.Pro91fs)
|
|
|
NM_001370658.1(BTD):c.274G>C (p.Glu92Gln)
|
rs397514352
|
|
NM_001370658.1(BTD):c.312_315dup (p.Tyr106fs)
|
rs1057516223
|
|
NM_001370658.1(BTD):c.333del (p.Phe111fs)
|
rs397514356
|
|
NM_001370658.1(BTD):c.364C>A (p.Pro122Thr)
|
rs397514357
|
|
NM_001370658.1(BTD):c.364C>T (p.Pro122Ser)
|
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)
|
rs144717999
|
|
NM_001370658.1(BTD):c.419G>A (p.Cys140Tyr)
|
|
|
NM_001370658.1(BTD):c.419G>C (p.Cys140Ser)
|
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
NM_001370658.1(BTD):c.44_45del (p.Cys15fs)
|
rs750965140
|
|
NM_001370658.1(BTD):c.466A>T (p.Lys156Ter)
|
|
|
NM_001370658.1(BTD):c.47dup (p.Tyr16Ter)
|
rs1057516812
|
|
NM_001370658.1(BTD):c.496T>C (p.Cys166Arg)
|
rs955385869
|
|
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)
|
rs955385869
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
NM_001370658.1(BTD):c.524A>G (p.Asn175Ser)
|
rs397514371
|
|
NM_001370658.1(BTD):c.527del (p.Thr176fs)
|
rs1553653680
|
|
NM_001370658.1(BTD):c.528_542del (p.Val178_Asn182del)
|
rs1575029290
|
|
NM_001370658.1(BTD):c.52del (p.Val18fs)
|
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
|
|
|
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)
|
rs397507174
|
|
NM_001370658.1(BTD):c.589_591delinsAGTA (p.Phe197fs)
|
rs1553653732
|
|
NM_001370658.1(BTD):c.58_59del (p.Leu20fs)
|
rs1553652080
|
|
NM_001370658.1(BTD):c.594G>C (p.Glu198Asp)
|
rs397514379
|
|
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
|
|
|
NM_001370658.1(BTD):c.622G>T (p.Asp208Tyr)
|
rs397514380
|
|
NM_001370658.1(BTD):c.640A>G (p.Thr214Ala)
|
|
|
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)
|
rs587783005
|
|
NM_001370658.1(BTD):c.675C>A (p.Cys225Ter)
|
|
|
NM_001370658.1(BTD):c.682A>C (p.Ile228Leu)
|
rs398123140
|
|
NM_001370658.1(BTD):c.698C>T (p.Pro233Leu)
|
rs397514438
|
|
NM_001370658.1(BTD):c.705C>G (p.Ile235Met)
|
rs1575029719
|
|
NM_001370658.1(BTD):c.710T>A (p.Val237Asp)
|
rs1190721481
|
|
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)
|
rs148031701
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.799del (p.Ala267fs)
|
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
NM_001370658.1(BTD):c.827T>G (p.Val276Gly)
|
rs397514391
|
|
NM_001370658.1(BTD):c.835G>C (p.Ala279Pro)
|
rs1157567876
|
|
NM_001370658.1(BTD):c.875G>T (p.Gly292Val)
|
|
|
NM_001370658.1(BTD):c.881A>T (p.His294Leu)
|
|
|
NM_001370658.1(BTD):c.920dup (p.Asn307fs)
|
|
|
NM_001370658.1(BTD):c.932_941del (p.His311fs)
|
rs773137513
|
|
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp)
|
rs1553567473
|
|
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp)
|
rs1043984708
|
|
NM_001371727.1(GABRB2):c.151C>G (p.Leu51Val)
|
rs1760985866
|
|
NM_001371727.1(GABRB2):c.228A>T (p.Glu76Asp)
|
|
|
NM_001371727.1(GABRB2):c.242A>G (p.Tyr81Cys)
|
|
|
NM_001371727.1(GABRB2):c.627G>T (p.Gln209His)
|
rs2113408165
|
|
NM_001371727.1(GABRB2):c.672T>A (p.Phe224Leu)
|
rs2113408096
|
|
NM_001371727.1(GABRB2):c.754C>A (p.Pro252Thr)
|
rs869312861
|
|
NM_001371727.1(GABRB2):c.754C>T (p.Pro252Ser)
|
rs869312861
|
|
NM_001371727.1(GABRB2):c.775C>T (p.Leu259Phe)
|
|
|
NM_001371727.1(GABRB2):c.857C>T (p.Thr286Ile)
|
rs1753824585
|
|
NM_001371727.1(GABRB2):c.860C>T (p.Thr287Ile)
|
rs1753824440
|
|
NM_001371727.1(GABRB2):c.863T>C (p.Ile288Thr)
|
rs1064795444
|
|
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp)
|
rs1554093891
|
|
NM_001371727.1(GABRB2):c.878G>A (p.Arg293Gln)
|
|
|
NM_001371727.1(GABRB2):c.895A>G (p.Ile299Val)
|
rs1580984895
|
|
NM_001371727.1(GABRB2):c.901T>C (p.Tyr301His)
|
rs2113397784
|
|
NM_001371727.1(GABRB2):c.904G>A (p.Val302Met)
|
rs1085307993
|
|
NM_001371727.1(GABRB2):c.907A>G (p.Lys303Glu)
|
|
|
NM_001371727.1(GABRB2):c.914T>C (p.Ile305Thr)
|
rs1753822503
|
|
NM_001371727.1(GABRB2):c.929T>C (p.Met310Thr)
|
|
|
NM_001371727.1(GABRB2):c.946G>A (p.Val316Ile)
|
rs1554093884
|
|
NM_001371727.1(GABRB2):c.986T>A (p.Ile329Asn)
|
rs1753821661
|
|
NM_001371928.1(AHDC1):c.1080_1111del (p.Glu361fs)
|
|
|
NM_001371928.1(AHDC1):c.1140del (p.Lys381fs)
|
|
|
NM_001371928.1(AHDC1):c.1433del (p.Met478fs)
|
rs2019490062
|
|
NM_001371928.1(AHDC1):c.1757_1758del (p.Lys586fs)
|
rs1064797043
|
|
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter)
|
rs1165205177
|
|
NM_001371928.1(AHDC1):c.2520dup (p.Arg841fs)
|
|
|
NM_001371928.1(AHDC1):c.2772del (p.Arg925fs)
|
rs2019386507
|
|
NM_001371928.1(AHDC1):c.3025C>G (p.Pro1009Ala)
|
|
|
NM_001371928.1(AHDC1):c.3078_3079insCA (p.Gly1027fs)
|
rs2019359088
|
|
NM_001371928.1(AHDC1):c.3168_3169del (p.Cys1056_Asp1057delinsTer)
|
rs1553158517
|
|
NM_001371928.1(AHDC1):c.3898C>T (p.Gln1300Ter)
|
rs2148263628
|
|
NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly)
|
rs1557655967
|
|
NM_001371928.1(AHDC1):c.519_520delinsC (p.Leu173fs)
|
|
|
NM_001371928.1(AHDC1):c.932del (p.Gly311fs)
|
rs1553159764
|
|
NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter)
|
rs1571242220
|
|
NM_001371986.1(UNC80):c.565G>A (p.Val189Met)
|
rs864321623
|
|
NM_001372.4(DNAH9):c.308dup (p.Leu104fs)
|
rs769795916
|
|
NM_001372044.2(SHANK3):c.1797C>A (p.Cys599Ter)
|
rs377573165
|
|
NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs)
|
rs2083280147
|
|
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs)
|
rs1778944605
|
|
NM_001374828.1(ARID1B):c.1293_1320dup (p.Tyr441fs)
|
|
|
NM_001374828.1(ARID1B):c.1462_1466del (p.Phe488fs)
|
|
|
NM_001374828.1(ARID1B):c.1629_1647del (p.Gly544fs)
|
rs1779004027
|
|
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter)
|
rs1779032666
|
|
NM_001374828.1(ARID1B):c.1811del (p.Met604fs)
|
|
|
NM_001374828.1(ARID1B):c.1853dup (p.His619fs)
|
|
|
NM_001374828.1(ARID1B):c.1987-29742G>A
|
rs1554261846
|
|
NM_001374828.1(ARID1B):c.2025C>G (p.Tyr675Ter)
|
rs773640553
|
|
NM_001374828.1(ARID1B):c.2046del (p.Tyr683fs)
|
rs1582908829
|
|
NM_001374828.1(ARID1B):c.2073dup (p.His692fs)
|
rs2128210922
|
|
NM_001374828.1(ARID1B):c.2078del (p.Leu693fs)
|
rs2128210949
|
|
NM_001374828.1(ARID1B):c.2379_2398del (p.His793fs)
|
rs1583280025
|
|
NM_001374828.1(ARID1B):c.2480C>T (p.Ala827Val)
|
|
|
NM_001374828.1(ARID1B):c.2491G>C (p.Gly831Arg)
|
|
|
NM_001374828.1(ARID1B):c.2581G>A (p.Gly861Ser)
|
rs1057518045
|
|
NM_001374828.1(ARID1B):c.2582-2A>C
|
rs1057524160
|
|
NM_001374828.1(ARID1B):c.2603_2606del (p.Arg868fs)
|
rs1085307695
|
|
NM_001374828.1(ARID1B):c.266G>A (p.Gly89Asp)
|
rs1057518648
|
|
NM_001374828.1(ARID1B):c.2714del (p.Asn905fs)
|
|
|
NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs)
|
|
|
NM_001374828.1(ARID1B):c.2746C>T (p.Gln916Ter)
|
rs1554301257
|
|
NM_001374828.1(ARID1B):c.2762-3_2762-2delinsAG
|
|
|
NM_001374828.1(ARID1B):c.2902C>T (p.Arg968Ter)
|
rs794727977
|
|
NM_001374828.1(ARID1B):c.2912C>A (p.Ser971Ter)
|
|
|
NM_001374828.1(ARID1B):c.2956del (p.Ser985_Met986insTer)
|
rs2128634579
|
|
NM_001374828.1(ARID1B):c.3287del (p.Leu1096fs)
|
rs1583451146
|
|
NM_001374828.1(ARID1B):c.3306_3310del (p.Lys1103fs)
|
rs1131692263
|
|
NM_001374828.1(ARID1B):c.3581_3602del (p.Leu1194fs)
|
rs1792478147
|
|
NM_001374828.1(ARID1B):c.3589G>A (p.Asp1197Asn)
|
|
|
NM_001374828.1(ARID1B):c.3664dup (p.Asp1222fs)
|
rs2128317569
|
|
NM_001374828.1(ARID1B):c.3721A>T (p.Lys1241Ter)
|
|
|
NM_001374828.1(ARID1B):c.3770C>G (p.Ser1257Ter)
|
rs1583469292
|
|
NM_001374828.1(ARID1B):c.3814del (p.Leu1272fs)
|
rs1057518918
|
|
NM_001374828.1(ARID1B):c.3827_3828del (p.Glu1276fs)
|
rs2128325428
|
|
NM_001374828.1(ARID1B):c.3933del (p.Leu1312fs)
|
|
|
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)
|
rs1289067120
|
|
NM_001374828.1(ARID1B):c.4232-1G>A
|
|
|
NM_001374828.1(ARID1B):c.4342C>T (p.Gln1448Ter)
|
rs1554234402
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001374828.1(ARID1B):c.4557C>A (p.Tyr1519Ter)
|
|
|
NM_001374828.1(ARID1B):c.4557C>G (p.Tyr1519Ter)
|
rs1794042593
|
|
NM_001374828.1(ARID1B):c.4638C>G (p.Tyr1546Ter)
|
|
|
NM_001374828.1(ARID1B):c.4647del (p.Tyr1550fs)
|
|
|
NM_001374828.1(ARID1B):c.4705C>T (p.Gln1569Ter)
|
rs797045278
|
|
NM_001374828.1(ARID1B):c.4770_4771dup (p.Arg1591fs)
|
|
|
NM_001374828.1(ARID1B):c.4808del (p.Gly1603fs)
|
rs2128374043
|
|
NM_001374828.1(ARID1B):c.4825C>T (p.Gln1609Ter)
|
rs1064793482
|
|
NM_001374828.1(ARID1B):c.5047C>T (p.Gln1683Ter)
|
|
|
NM_001374828.1(ARID1B):c.5224del (p.Val1742fs)
|
rs1583502875
|
|
NM_001374828.1(ARID1B):c.5264-2A>G
|
rs1794274425
|
|
NM_001374828.1(ARID1B):c.5394+3A>C
|
rs1794283740
|
|
NM_001374828.1(ARID1B):c.5395-1G>A
|
|
|
NM_001374828.1(ARID1B):c.5395-2A>C
|
rs1562350940
|
|
NM_001374828.1(ARID1B):c.5399del (p.Ser1800fs)
|
|
|
NM_001374828.1(ARID1B):c.5402del (p.Gly1801fs)
|
rs2128391037
|
|
NM_001374828.1(ARID1B):c.5417dup (p.Leu1806fs)
|
|
|
NM_001374828.1(ARID1B):c.5615_5616dup (p.Glu1873fs)
|
rs2128392250
|
|
NM_001374828.1(ARID1B):c.5635G>T (p.Glu1879Ter)
|
rs1794456297
|
|
NM_001374828.1(ARID1B):c.5719_5722del (p.Phe1907fs)
|
|
|
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)
|
rs1554237269
|
|
NM_001374828.1(ARID1B):c.578_589del (p.Leu193_Phe196del)
|
rs1778806787
|
|
NM_001374828.1(ARID1B):c.5825G>A (p.Trp1942Ter)
|
|
|
NM_001374828.1(ARID1B):c.5851G>T (p.Glu1951Ter)
|
rs1451259945
|
|
NM_001374828.1(ARID1B):c.5896C>T (p.Arg1966Cys)
|
rs1369594791
|
|
NM_001374828.1(ARID1B):c.5903del (p.Arg1968fs)
|
rs2128393700
|
|
NM_001374828.1(ARID1B):c.6028del (p.Ala2010fs)
|
rs1794490994
|
|
NM_001374828.1(ARID1B):c.6072dup (p.Lys2025Ter)
|
rs886041878
|
|
NM_001374828.1(ARID1B):c.6103del (p.Ser2035fs)
|
|
|
NM_001374828.1(ARID1B):c.612_613insGCAGCAG (p.Gln205fs)
|
|
|
NM_001374828.1(ARID1B):c.6161dup (p.Cys2055fs)
|
|
|
NM_001374828.1(ARID1B):c.6224T>G (p.Val2075Gly)
|
|
|
NM_001374828.1(ARID1B):c.6263T>C (p.Met2088Thr)
|
rs1583516082
|
|
NM_001374828.1(ARID1B):c.6286del (p.Val2095_Leu2096insTer)
|
|
|
NM_001374828.1(ARID1B):c.6359_6360del (p.Lys2120fs)
|
|
|
NM_001374828.1(ARID1B):c.6407G>A (p.Trp2136Ter)
|
|
|
NM_001374828.1(ARID1B):c.6617T>C (p.Leu2206Pro)
|
rs1794550318
|
|
NM_001374828.1(ARID1B):c.6619G>T (p.Glu2207Ter)
|
|
|
NM_001374828.1(ARID1B):c.6842del (p.Asn2281fs)
|
rs1562354784
|
|
NM_001374828.1(ARID1B):c.6873dup (p.Met2292fs)
|
rs2128398868
|
|
NM_001374828.1(ARID1B):c.6895C>T (p.Gln2299Ter)
|
rs758120346
|
|
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs)
|
rs1794584714
|
|
NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter)
|
rs1259041590
|
|
NM_001376.5(DYNC1H1):c.10016G>A (p.Arg3339His)
|
rs2152591288
|
|
NM_001376.5(DYNC1H1):c.10172C>T (p.Pro3391Leu)
|
rs1555411378
|
|
NM_001376.5(DYNC1H1):c.10280A>C (p.Gln3427Pro)
|
rs1555411394
|
|
NM_001376.5(DYNC1H1):c.10973G>A (p.Gly3658Glu)
|
rs1595629181
|
|
NM_001376.5(DYNC1H1):c.11015C>T (p.Ser3672Leu)
|
rs2152594747
|
|
NM_001376.5(DYNC1H1):c.11183G>C (p.Arg3728Pro)
|
rs797045529
|
|
NM_001376.5(DYNC1H1):c.12214G>T (p.Gly4072Cys)
|
rs2152596521
|
|
NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His)
|
rs770451110
|
|
NM_001376.5(DYNC1H1):c.2327delinsGGGT (p.Pro776delinsArgVal)
|
|
|
NM_001376.5(DYNC1H1):c.2644C>A (p.Gln882Lys)
|
rs2047950288
|
|
NM_001376.5(DYNC1H1):c.2868+2_2868+5delinsCCACAAA
|
rs2141276717
|
|
NM_001376.5(DYNC1H1):c.2900A>G (p.Gln967Arg)
|
rs2047998539
|
|
NM_001376.5(DYNC1H1):c.3170A>G (p.Tyr1057Cys)
|
rs2048038246
|
|
NM_001376.5(DYNC1H1):c.4042G>A (p.Glu1348Lys)
|
rs1047509819
|
|
NM_001376.5(DYNC1H1):c.4053G>A (p.Trp1351Ter)
|
|
|
NM_001376.5(DYNC1H1):c.4067C>T (p.Pro1356Leu)
|
|
|
NM_001376.5(DYNC1H1):c.4234C>T (p.His1412Tyr)
|
rs1595609005
|
|
NM_001376.5(DYNC1H1):c.4396-1G>C
|
|
|
NM_001376.5(DYNC1H1):c.4700G>T (p.Arg1567Leu)
|
rs797044901
|
|
NM_001376.5(DYNC1H1):c.4868G>A (p.Arg1623Gln)
|
rs1064796765
|
|
NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)
|
|
|
NM_001376.5(DYNC1H1):c.5885G>A (p.Arg1962His)
|
rs1057518287
|
|
NM_001376.5(DYNC1H1):c.5902C>T (p.Leu1968Phe)
|
|
|
NM_001376.5(DYNC1H1):c.6122T>C (p.Met2041Thr)
|
rs1555409836
|
|
NM_001376.5(DYNC1H1):c.6148G>C (p.Ala2050Pro)
|
|
|
NM_001376.5(DYNC1H1):c.6870C>A (p.Ser2290Arg)
|
|
|
NM_001376.5(DYNC1H1):c.6872T>G (p.Val2291Gly)
|
|
|
NM_001376.5(DYNC1H1):c.6943T>G (p.Leu2315Val)
|
|
|
NM_001376.5(DYNC1H1):c.6995G>A (p.Arg2332His)
|
rs1236304133
|
|
NM_001376.5(DYNC1H1):c.7145_7148dup (p.Ser2384fs)
|
rs2152581547
|
|
NM_001376.5(DYNC1H1):c.7474C>T (p.Arg2492Ter)
|
rs2048322542
|
|
NM_001376.5(DYNC1H1):c.7994A>G (p.Glu2665Gly)
|
|
|
NM_001376.5(DYNC1H1):c.874C>T (p.Arg292Trp)
|
rs2047850664
|
|
NM_001376.5(DYNC1H1):c.9055G>A (p.Gly3019Ser)
|
rs2152589131
|
|
NM_001376.5(DYNC1H1):c.9209C>T (p.Pro3070Leu)
|
rs2152589194
|
|
NM_001376.5(DYNC1H1):c.9547dup (p.Tyr3183fs)
|
rs2152590132
|
|
NM_001376.5(DYNC1H1):c.9751G>A (p.Glu3251Lys)
|
rs2152590264
|
|
NM_001376.5(DYNC1H1):c.9959C>T (p.Ala3320Val)
|
rs1555411305
|
|
NM_001378120.1(MBD5):c.1119del (p.Val374fs)
|
rs1680695228
|
|
NM_001378120.1(MBD5):c.114-2A>T
|
rs1574451881
|
|
NM_001378120.1(MBD5):c.1250T>G (p.Met417Arg)
|
|
|
NM_001378120.1(MBD5):c.1438C>T (p.Gln480Ter)
|
|
|
NM_001378120.1(MBD5):c.1756G>A (p.Ala586Thr)
|
|
|
NM_001378120.1(MBD5):c.1A>G (p.Met1Val)
|
|
|
NM_001378120.1(MBD5):c.2012_2013del (p.Arg671fs)
|
|
|
NM_001378120.1(MBD5):c.316_319dup (p.Ile107fs)
|
|
|
NM_001378120.1(MBD5):c.5020C>T (p.Arg1674Trp)
|
rs1393532031
|
|
NM_001378120.1(MBD5):c.5037-2A>G
|
|
|
NM_001378120.1(MBD5):c.74G>A (p.Trp25Ter)
|
|
|
NM_001378120.1(MBD5):c.830C>G (p.Ser277Ter)
|
rs1029755113
|
|
NM_001378120.1(MBD5):c.936dup (p.Pro313fs)
|
rs2105627349
|
|
NM_001378418.1(TCF20):c.5725C>T (p.His1909Tyr)
|
rs1569110700
|
|
NM_001378452.1(ITPR1):c.1510A>G (p.Arg504Gly)
|
rs2093873520
|
|
NM_001378452.1(ITPR1):c.1531A>G (p.Arg511Gly)
|
rs2093873717
|
|
NM_001378452.1(ITPR1):c.1534G>A (p.Glu512Lys)
|
rs2125193560
|
|
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met)
|
rs1559718601
|
|
NM_001378452.1(ITPR1):c.4691T>C (p.Leu1564Pro)
|
rs2125272771
|
|
NM_001378452.1(ITPR1):c.5616G>A (p.Met1872Ile)
|
rs1002376493
|
|
NM_001378452.1(ITPR1):c.722G>A (p.Arg241Lys)
|
rs2125159664
|
|
NM_001378452.1(ITPR1):c.742_744del (p.Glu248del)
|
rs1559603328
|
|
NM_001378452.1(ITPR1):c.748T>C (p.Phe250Leu)
|
rs2125159710
|
|
NM_001378452.1(ITPR1):c.755C>T (p.Thr252Ile)
|
rs2125159718
|
|
NM_001378452.1(ITPR1):c.7648G>A (p.Gly2550Arg)
|
rs1553757628
|
|
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)
|
rs752281590
|
|
NM_001378452.1(ITPR1):c.7784G>C (p.Gly2595Ala)
|
rs869312685
|
|
NM_001378452.1(ITPR1):c.7798A>C (p.Thr2600Pro)
|
rs2106494596
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378452.1(ITPR1):c.830G>T (p.Ser277Ile)
|
rs863224882
|
|
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs)
|
rs1560166511
|
|
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)
|
rs763596840
|
|
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs)
|
rs1560184664
|
|
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs)
|
rs2109070129
|
|
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs)
|
rs1719933188
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
NM_001378615.1(CC2D2A):c.3976-3C>A
|
rs576298659
|
|
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr)
|
rs863225176
|
|
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
|
|
|
NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs)
|
rs1392635342
|
|
NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)
|
|
|
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs)
|
rs386833765
|
|
NM_001378778.1(MPDZ):c.1338_1341dup (p.Leu448fs)
|
rs2135678282
|
|
NM_001378778.1(MPDZ):c.1445T>A (p.Leu482Ter)
|
|
|
NM_001378778.1(MPDZ):c.1502dup (p.Leu501fs)
|
rs1956840371
|
|
NM_001378778.1(MPDZ):c.1690G>T (p.Gly564Ter)
|
|
|
NM_001378778.1(MPDZ):c.2649+1G>A
|
|
|
NM_001378778.1(MPDZ):c.3253A>T (p.Lys1085Ter)
|
rs1951349487
|
|
NM_001378778.1(MPDZ):c.3820_3821del (p.Leu1274fs)
|
rs751161649
|
|
NM_001378778.1(MPDZ):c.4003A>T (p.Lys1335Ter)
|
rs1587149916
|
|
NM_001378778.1(MPDZ):c.409_410delinsC (p.Val137fs)
|
|
|
NM_001378778.1(MPDZ):c.4702C>T (p.Gln1568Ter)
|
|
|
NM_001378778.1(MPDZ):c.6007_6013dup (p.Tyr2005fs)
|
rs1586841546
|
|
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)
|
rs867628133
|
|
NM_001378969.1(KCND3):c.1076G>T (p.Trp359Leu)
|
rs1571939623
|
|
NM_001378969.1(KCND3):c.1111G>A (p.Gly371Arg)
|
rs1057521793
|
|
NM_001378969.1(KCND3):c.1129A>G (p.Thr377Ala)
|
|
|
NM_001378969.1(KCND3):c.1138G>T (p.Gly380Trp)
|
|
|
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys)
|
rs777183510
|
|
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met)
|
rs2101997230
|
|
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)
|
|
|
NM_001378969.1(KCND3):c.869G>A (p.Arg290Gln)
|
rs1674966041
|
|
NM_001378969.1(KCND3):c.905G>C (p.Arg302Pro)
|
rs2101995572
|
|
NM_001378969.1(KCND3):c.911C>T (p.Ser304Phe)
|
rs2101995530
|
|
NM_001378969.1(KCND3):c.983T>G (p.Leu328Arg)
|
rs2101995228
|
|
NM_001379029.1(CERT1):c.496A>G (p.Thr166Ala)
|
rs1580752093
|
|
NM_001379029.1(CERT1):c.728G>C (p.Gly243Ala)
|
|
|
NM_001379110.1(SLC9A6):c.1662-19_1662-3del
|
rs1569525894
|
|
NM_001379291.1(BRD4):c.3666_3672dup (p.Glu1225fs)
|
rs2145499914
|
|
NM_001379291.1(BRD4):c.703C>T (p.Gln235Ter)
|
|
|
NM_001379291.1(BRD4):c.710_711del (p.Pro237fs)
|
rs2047523428
|
|
NM_001379451.1(BCORL1):c.3793C>T (p.Arg1265Cys)
|
rs1464137864
|
|
NM_001382391.1(CSPP1):c.-10-1G>T
|
|
|
NM_001382391.1(CSPP1):c.-54_-51del
|
|
|
NM_001382391.1(CSPP1):c.100-2A>C
|
|
|
NM_001382391.1(CSPP1):c.1022+1G>C
|
|
|
NM_001382391.1(CSPP1):c.1022+1G>T
|
rs2129547115
|
|
NM_001382391.1(CSPP1):c.1187+1G>A
|
|
|
NM_001382391.1(CSPP1):c.1188-2A>G
|
|
|
NM_001382391.1(CSPP1):c.1828-1G>C
|
|
|
NM_001382391.1(CSPP1):c.2129-2A>G
|
rs2129559034
|
|
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter)
|
rs1402669959
|
|
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs)
|
rs1827118960
|
|
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs)
|
rs2129561783
|
|
NM_001382391.1(CSPP1):c.3110-1G>A
|
rs1064795687
|
|
NM_001382391.1(CSPP1):c.3221-1G>A
|
|
|
NM_001382391.1(CSPP1):c.3330+1G>C
|
rs1045070965
|
|
NM_001382391.1(CSPP1):c.3330+2T>C
|
|
|
NM_001382391.1(CSPP1):c.3331-2A>G
|
rs1836992042
|
|
NM_001382391.1(CSPP1):c.483+2T>A
|
|
|
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs)
|
rs766020802
|
|
NM_001383.6(DPH1):c.686T>C (p.Leu229Pro)
|
rs730882250
|
|
NM_001384125.1(BLTP1):c.1557T>A (p.Tyr519Ter)
|
rs730882245
|
|
NM_001384732.1(CPLANE1):c.1122-2A>G
|
|
|
NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)
|
|
|
NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs)
|
rs926409425
|
|
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
|
|
|
NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)
|
|
|
NM_001384732.1(CPLANE1):c.7234-2_7234del
|
|
|
NM_001384732.1(CPLANE1):c.8471del (p.Phe2823_Leu2824insTer)
|
|
|
NM_001385012.1(NBEA):c.3894C>A (p.Asp1298Glu)
|
rs2069582666
|
|
NM_001385012.1(NBEA):c.8322G>A (p.Trp2774Ter)
|
rs2153082059
|
|
NM_001386140.1(MTTP):c.1067T>G (p.Leu356Ter)
|
rs1725580386
|
|
NM_001386140.1(MTTP):c.1106C>A (p.Ser369Ter)
|
|
|
NM_001386140.1(MTTP):c.1117G>T (p.Glu373Ter)
|
rs1725671165
|
|
NM_001386140.1(MTTP):c.114C>A (p.Tyr38Ter)
|
|
|
NM_001386140.1(MTTP):c.1168del (p.Gln390fs)
|
|
|
NM_001386140.1(MTTP):c.1266_1267del (p.Ser422fs)
|
|
|
NM_001386140.1(MTTP):c.1321C>T (p.Gln441Ter)
|
rs1486643983
|
|
NM_001386140.1(MTTP):c.1327G>T (p.Glu443Ter)
|
rs1725702758
|
|
NM_001386140.1(MTTP):c.1367T>A (p.Leu456Ter)
|
rs1725826321
|
|
NM_001386140.1(MTTP):c.141del (p.Gly49fs)
|
rs1228389182
|
|
NM_001386140.1(MTTP):c.1428_1429insGAAAAATCATA (p.Leu477fs)
|
|
|
NM_001386140.1(MTTP):c.1558-2A>G
|
rs1553927840
|
|
NM_001386140.1(MTTP):c.1573_1574del (p.Asn525fs)
|
|
|
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs)
|
rs2110230146
|
|
NM_001386140.1(MTTP):c.1646del (p.Asn549fs)
|
|
|
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter)
|
rs1725885571
|
|
NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter)
|
rs1725886004
|
|
NM_001386140.1(MTTP):c.1756G>T (p.Glu586Ter)
|
|
|
NM_001386140.1(MTTP):c.1933A>T (p.Arg645Ter)
|
|
|
NM_001386140.1(MTTP):c.1940del (p.Asn647fs)
|
|
|
NM_001386140.1(MTTP):c.1953_1954del (p.Phe651fs)
|
|
|
NM_001386140.1(MTTP):c.1959C>A (p.Tyr653Ter)
|
rs1725953201
|
|
NM_001386140.1(MTTP):c.1964_1965del (p.Gly655fs)
|
|
|
NM_001386140.1(MTTP):c.2021T>A (p.Leu674Ter)
|
rs1725996321
|
|
NM_001386140.1(MTTP):c.2055delinsAGGCA (p.Asn685fs)
|
|
|
NM_001386140.1(MTTP):c.2097_2098del (p.Gln700fs)
|
|
|
NM_001386140.1(MTTP):c.2113_2114del (p.Thr705fs)
|
|
|
NM_001386140.1(MTTP):c.2125G>T (p.Gly709Ter)
|
rs1726001209
|
|
NM_001386140.1(MTTP):c.2183_2184del (p.Val728fs)
|
|
|
NM_001386140.1(MTTP):c.2228T>A (p.Leu743Ter)
|
|
|
NM_001386140.1(MTTP):c.2260C>T (p.Gln754Ter)
|
rs1726166189
|
|
NM_001386140.1(MTTP):c.2299_2300delinsA (p.Phe767fs)
|
|
|
NM_001386140.1(MTTP):c.22_23insCTGAA (p.Phe8fs)
|
|
|
NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter)
|
rs777548973
|
|
NM_001386140.1(MTTP):c.275_276del (p.Val92fs)
|
|
|
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter)
|
rs1560614646
|
|
NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter)
|
|
|
NM_001386140.1(MTTP):c.358C>T (p.Gln120Ter)
|
rs1725178752
|
|
NM_001386140.1(MTTP):c.363_369del (p.Arg121fs)
|
|
|
NM_001386140.1(MTTP):c.486_488delinsA (p.Gly163fs)
|
|
|
NM_001386140.1(MTTP):c.502-2A>G
|
rs1725410386
|
|
NM_001386140.1(MTTP):c.546del (p.Asp183fs)
|
|
|
NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter)
|
rs1725413862
|
|
NM_001386140.1(MTTP):c.674_675insATGTAGCTTTTGAA (p.Ser225delinsArgCysSerPheTer)
|
|
|
NM_001386140.1(MTTP):c.696_697del (p.Glu233fs)
|
|
|
NM_001386140.1(MTTP):c.710_711delinsGATGTGTATAAGAGACAG (p.Asn237delinsArgCysValTer)
|
|
|
NM_001386140.1(MTTP):c.734_742delinsAAGA (p.Thr245fs)
|
|
|
NM_001386140.1(MTTP):c.75dup (p.Leu26fs)
|
|
|
NM_001386140.1(MTTP):c.775A>T (p.Lys259Ter)
|
rs1283854712
|
|
NM_001386140.1(MTTP):c.807_813del (p.Gly270fs)
|
|
|
NM_001386140.1(MTTP):c.808G>T (p.Gly270Ter)
|
|
|
NM_001386140.1(MTTP):c.903T>A (p.Cys301Ter)
|
rs1725516307
|
|
NM_001386140.1(MTTP):c.957_963del (p.Asn319fs)
|
|
|
NM_001386298.1(CIC):c.1026dup (p.Trp343fs)
|
|
|
NM_001386298.1(CIC):c.111_112del (p.Asp38fs)
|
|
|
NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter)
|
rs2147018633
|
|
NM_001386298.1(CIC):c.1631del (p.Gly544fs)
|
|
|
NM_001386298.1(CIC):c.3407A>G (p.Asn1136Ser)
|
rs2037753806
|
|
NM_001386298.1(CIC):c.3428T>C (p.Leu1143Pro)
|
|
|
NM_001386298.1(CIC):c.4594G>T (p.Gly1532Ter)
|
rs747706524
|
|
NM_001386298.1(CIC):c.4981delinsCTTCCC (p.Thr1661fs)
|
|
|
NM_001386298.1(CIC):c.5424del (p.Ala1809fs)
|
|
|
NM_001386298.1(CIC):c.5501C>T (p.Pro1834Leu)
|
|
|
NM_001386298.1(CIC):c.6055C>T (p.Gln2019Ter)
|
|
|
NM_001386298.1(CIC):c.6793G>T (p.Glu2265Ter)
|
rs752780532
|
|
NM_001387025.1(GRAMD1B):c.811C>T (p.Arg271Ter)
|
rs1951071576
|
|
NM_001388303.1(HECTD4):c.9724dup (p.Ala3242fs)
|
|
|
NM_001394998.1(TANC2):c.1441+1G>A
|
rs2045256930
|
|
NM_001394998.1(TANC2):c.3418C>T (p.Arg1140Ter)
|
rs2048464266
|
|
NM_001394998.1(TANC2):c.3765+1G>T
|
rs2048707664
|
|
NM_001394998.1(TANC2):c.4080del (p.Glu1361fs)
|
rs2048834387
|
|
NM_001394998.1(TANC2):c.4701del (p.Gln1567fs)
|
rs2048990416
|
|
NM_001394998.1(TANC2):c.769+1G>A
|
rs1419550439
|
|
NM_001415.4(EIF2S3):c.431C>T (p.Thr144Ile)
|
rs751468976
|
|
NM_001415.4(EIF2S3):c.433A>G (p.Met145Val)
|
rs1602041478
|
|
NM_001415.4(EIF2S3):c.620T>C (p.Ile207Thr)
|
|
|
NM_001415.4(EIF2S3):c.820C>G (p.Leu274Val)
|
rs2147128410
|
|
NM_001429.3(EP300):c.3857A>G
|
rs1555910821
|
|
NM_001429.4(EP300):c.1282+1G>A
|
|
|
NM_001429.4(EP300):c.1709_1710del (p.Gln570fs)
|
|
|
NM_001429.4(EP300):c.1738C>T (p.Arg580Ter)
|
rs137853038
|
|
NM_001429.4(EP300):c.1878+1G>A
|
rs2058974109
|
|
NM_001429.4(EP300):c.2064dup (p.Pro689fs)
|
rs1601617062
|
|
NM_001429.4(EP300):c.2132-1G>A
|
rs2145734002
|
|
NM_001429.4(EP300):c.2461_2470del (p.Gln821fs)
|
|
|
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)
|
rs953108559
|
|
NM_001429.4(EP300):c.2998-3_2998-2del
|
rs2145740556
|
|
NM_001429.4(EP300):c.3067del (p.Glu1022_Ile1023insTer)
|
rs2059050708
|
|
NM_001429.4(EP300):c.3135_3138del (p.Lys1046fs)
|
rs2059051273
|
|
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter)
|
rs565779970
|
|
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp)
|
rs1340981566
|
|
NM_001429.4(EP300):c.3671+1G>A
|
rs2059103511
|
|
NM_001429.4(EP300):c.3671+5G>C
|
|
|
NM_001429.4(EP300):c.3729-1G>T
|
rs2145756375
|
|
NM_001429.4(EP300):c.3731TTG[1] (p.Val1245del)
|
rs1555910602
|
|
NM_001429.4(EP300):c.3733del (p.Val1245fs)
|
|
|
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr)
|
rs1601629319
|
|
NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser)
|
rs1464734494
|
|
NM_001429.4(EP300):c.4195G>A (p.Asp1399Asn)
|
rs1057519889
|
|
NM_001429.4(EP300):c.4195G>T (p.Asp1399Tyr)
|
rs1057519889
|
|
NM_001429.4(EP300):c.4232C>T (p.Thr1411Ile)
|
rs1601633708
|
|
NM_001429.4(EP300):c.4287-1G>T
|
|
|
NM_001429.4(EP300):c.4318C>A (p.Pro1440Thr)
|
|
|
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet)
|
rs1555911316
|
|
NM_001429.4(EP300):c.4452+5G>T
|
rs1555911334
|
|
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu)
|
rs1555911573
|
|
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter)
|
rs1601636935
|
|
NM_001429.4(EP300):c.5245C>T (p.Arg1749Trp)
|
rs2145515250
|
|
NM_001429.4(EP300):c.5486G>C (p.Arg1829Pro)
|
rs2145516079
|
|
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr)
|
rs1601639958
|
|
NM_001429.4(EP300):c.5493G>C (p.Arg1831Ser)
|
rs1379274045
|
|
NM_001429.4(EP300):c.5894dup (p.Met1965fs)
|
|
|
NM_001429.4(EP300):c.5897del (p.Gly1966fs)
|
|
|
NM_001429.4(EP300):c.598C>T (p.Arg200Ter)
|
rs769721953
|
|
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser)
|
rs1210404526
|
|
NM_001429.4(EP300):c.6015_6028del (p.Gln2005fs)
|
rs2059210417
|
|
NM_001429.4(EP300):c.6121_6124del (p.Leu2041fs)
|
rs2059211409
|
|
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter)
|
rs1555912238
|
|
NM_001429.4(EP300):c.6454C>T (p.Gln2152Ter)
|
|
|
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del)
|
rs875989807
|
|
NM_001429.4(EP300):c.6691del (p.Met2231fs)
|
rs1601641819
|
|
NM_001470.4(GABBR1):c.1104G>C (p.Glu368Asp)
|
|
|
NM_001470.4(GABBR1):c.1190C>T (p.Ala397Val)
|
|
|
NM_001470.4(GABBR1):c.1603G>A (p.Ala535Thr)
|
|
|
NM_001470.4(GABBR1):c.2018G>A (p.Gly673Asp)
|
|
|
NM_001482.3(GATM):c.1043-1G>C
|
|
|
NM_001482.3(GATM):c.1237C>T (p.Arg413Trp)
|
rs1244824806
|
|
NM_001482.3(GATM):c.1238G>A (p.Arg413Gln)
|
|
|
NM_001482.3(GATM):c.216G>A (p.Trp72Ter)
|
rs1566842679
|
|
NM_001482.3(GATM):c.288+2_288+11del
|
|
|
NM_001482.3(GATM):c.289-1_292del
|
|
|
NM_001482.3(GATM):c.553G>C (p.Ala185Pro)
|
rs2140644920
|
|
NM_001482.3(GATM):c.608A>C (p.Tyr203Ser)
|
rs397514709
|
|
NM_001482.3(GATM):c.676-1G>C
|
|
|
NM_001482.3(GATM):c.69+1G>A
|
|
|
NM_001482.3(GATM):c.70-2A>C
|
|
|
NM_001482.3(GATM):c.959del (p.Pro320fs)
|
rs1889443484
|
|
NM_001482.3(GATM):c.979-1_979insT
|
|
|
NM_001493.3(GDI1):c.45+1G>A
|
rs2148226455
|
|
NM_001493.3(GDI1):c.671A>G (p.Tyr224Cys)
|
|
|
NM_001493.3(GDI1):c.706C>T (p.Gln236Ter)
|
rs2148228335
|
|
NM_001493.3(GDI1):c.706del (p.Gln236fs)
|
|
|
NM_001493.3(GDI1):c.788del (p.Gly263fs)
|
rs2068750338
|
|
NM_001510.4(GRID2):c.910C>T (p.Arg304Ter)
|
rs1579319300
|
|
NM_001543.5(NDST1):c.1918T>C (p.Phe640Leu)
|
rs606231458
|
|
NM_001605.3(AARS1):c.1574G>A (p.Cys525Tyr)
|
rs2152156655
|
|
NM_001605.3(AARS1):c.1897del (p.Arg633fs)
|
rs2152154412
|
|
NM_001605.3(AARS1):c.2873T>C (p.Phe958Ser)
|
rs1555539157
|
|
NM_001650.7(AQP4):c.332G>C (p.Ser111Thr)
|
rs1555661648
|
|
NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)
|
|
|
NM_001659.3(ARF3):c.34C>G (p.Leu12Val)
|
|
|
NM_001690.4(ATP6V1A):c.1123C>A (p.Pro375Thr)
|
rs1559759089
|
|
NM_001690.4(ATP6V1A):c.1649T>C (p.Met550Thr)
|
rs1709263798
|
|
NM_001690.4(ATP6V1A):c.299A>T (p.Asp100Val)
|
|
|
NM_001690.4(ATP6V1A):c.790T>C (p.Ser264Pro)
|
rs2108033397
|
|
NM_001744.6(CAMK4):c.981+1G>A
|
rs1561515242
|
|
NM_001752.4(CAT):c.1056+1G>C
|
|
|
NM_001759.4(CCND2):c.812C>A (p.Ser271Ter)
|
|
|
NM_001759.4(CCND2):c.839C>A (p.Thr280Asn)
|
rs587777620
|
|
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile)
|
rs587777620
|
|
NM_001759.4(CCND2):c.851T>A (p.Val284Glu)
|
rs777786993
|
|
NM_001822.7(CHN1):c.667G>A (p.Ala223Thr)
|
rs1558939623
|
|
NM_001830.4(CLCN4):c.1202T>C (p.Leu401Pro)
|
rs1924450715
|
|
NM_001830.4(CLCN4):c.1399G>A (p.Gly467Ser)
|
rs1602159841
|
|
NM_001830.4(CLCN4):c.1576G>A (p.Gly526Ser)
|
rs1555976973
|
|
NM_001830.4(CLCN4):c.1622A>T (p.Glu541Val)
|
|
|
NM_001830.4(CLCN4):c.1646T>C (p.Ile549Thr)
|
rs1924631837
|
|
NM_001830.4(CLCN4):c.1987_1990del (p.Gln663fs)
|
|
|
NM_001830.4(CLCN4):c.373del (p.Asp125fs)
|
rs1924061524
|
|
NM_001830.4(CLCN4):c.608C>T (p.Thr203Ile)
|
|
|
NM_001830.4(CLCN4):c.740dup (p.Asn248fs)
|
rs2147178526
|
|
NM_001830.4(CLCN4):c.832del (p.Ser278fs)
|
rs1924399093
|
|
NM_001830.4(CLCN4):c.835C>G (p.Leu279Val)
|
|
|
NM_001830.4(CLCN4):c.840A>T (p.Glu280Asp)
|
|
|
NM_001830.4(CLCN4):c.944G>A (p.Arg315His)
|
rs1374813094
|
|
NM_001830.4(CLCN4):c.949G>A (p.Val317Ile)
|
rs1064796023
|
|
NM_001845.6(COL4A1):c.*32G>A
|
rs1876439052
|
|
NM_001845.6(COL4A1):c.1076G>T (p.Gly359Val)
|
|
|
NM_001845.6(COL4A1):c.1258G>A (p.Gly420Arg)
|
rs2139187274
|
|
NM_001845.6(COL4A1):c.1462del (p.Glu487_Ile488insTer)
|
rs1594566751
|
|
NM_001845.6(COL4A1):c.146G>A (p.Gly49Asp)
|
|
|
NM_001845.6(COL4A1):c.169C>T (p.Gln57Ter)
|
|
|
NM_001845.6(COL4A1):c.173G>A (p.Gly58Asp)
|
|
|
NM_001845.6(COL4A1):c.1991G>A (p.Gly664Glu)
|
|
|
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)
|
rs1878248687
|
|
NM_001845.6(COL4A1):c.2078G>A (p.Gly693Glu)
|
rs1555303720
|
|
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)
|
rs587780588
|
|
NM_001845.6(COL4A1):c.2132G>A (p.Gly711Glu)
|
rs1878142219
|
|
NM_001845.6(COL4A1):c.2185G>C (p.Gly729Arg)
|
rs1594555106
|
|
NM_001845.6(COL4A1):c.2281G>A (p.Gly761Arg)
|
rs2139165606
|
|
NM_001845.6(COL4A1):c.2290G>A (p.Gly764Ser)
|
rs2139165584
|
|
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)
|
rs672601347
|
|
NM_001845.6(COL4A1):c.2337del (p.Ile780fs)
|
rs2139165506
|
|
NM_001845.6(COL4A1):c.2450G>A (p.Gly817Glu)
|
rs1878013473
|
|
NM_001845.6(COL4A1):c.2485G>T (p.Gly829Cys)
|
|
|
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)
|
rs797044867
|
|
NM_001845.6(COL4A1):c.2527G>A (p.Gly843Arg)
|
rs2139164302
|
|
NM_001845.6(COL4A1):c.2545G>A (p.Gly849Arg)
|
rs2139164265
|
|
NM_001845.6(COL4A1):c.2644G>T (p.Gly882Cys)
|
|
|
NM_001845.6(COL4A1):c.2662G>A (p.Gly888Arg)
|
rs797045034
|
|
NM_001845.6(COL4A1):c.2708G>A (p.Gly903Asp)
|
|
|
NM_001845.6(COL4A1):c.2788G>A (p.Gly930Ser)
|
rs2139163058
|
|
NM_001845.6(COL4A1):c.2842G>C (p.Gly948Arg)
|
rs1555303073
|
|
NM_001845.6(COL4A1):c.2869G>A (p.Gly957Arg)
|
rs2139162955
|
|
NM_001845.6(COL4A1):c.2888G>A (p.Gly963Asp)
|
rs2139162750
|
|
NM_001845.6(COL4A1):c.2902C>T (p.Arg968Ter)
|
rs1877904298
|
|
NM_001845.6(COL4A1):c.2977G>A (p.Gly993Ser)
|
rs2139162416
|
|
NM_001845.6(COL4A1):c.3208G>A (p.Gly1070Arg)
|
rs1057523325
|
|
NM_001845.6(COL4A1):c.3218G>A (p.Gly1073Asp)
|
rs1877801384
|
|
NM_001845.6(COL4A1):c.3298G>T (p.Gly1100Trp)
|
rs2139160332
|
|
NM_001845.6(COL4A1):c.3308G>A (p.Gly1103Glu)
|
rs1877796592
|
|
NM_001845.6(COL4A1):c.3397G>A (p.Gly1133Arg)
|
|
|
NM_001845.6(COL4A1):c.3515G>C (p.Gly1172Ala)
|
|
|
NM_001845.6(COL4A1):c.3555A>G (p.Lys1185=)
|
rs1057518654
|
|
NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser)
|
rs1877701802
|
|
NM_001845.6(COL4A1):c.3698G>A (p.Gly1233Glu)
|
rs1348341976
|
|
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg)
|
rs1085307709
|
|
NM_001845.6(COL4A1):c.3770G>A (p.Gly1257Glu)
|
rs1877518903
|
|
NM_001845.6(COL4A1):c.3922G>A (p.Gly1308Arg)
|
|
|
NM_001845.6(COL4A1):c.3950G>T (p.Gly1317Val)
|
|
|
NM_001845.6(COL4A1):c.4022-1G>A
|
rs2139149392
|
|
NM_001845.6(COL4A1):c.4232G>A (p.Gly1411Glu)
|
|
|
NM_001845.6(COL4A1):c.4250-1G>A
|
rs2139146298
|
|
NM_001845.6(COL4A1):c.4250-2A>C
|
rs2139146303
|
|
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter)
|
rs1594535661
|
|
NM_001845.6(COL4A1):c.4981C>T (p.Arg1661Cys)
|
rs1555300086
|
|
NM_001845.6(COL4A1):c.781G>A (p.Gly261Ser)
|
|
|
NM_001846.4(COL4A2):c.1312G>A (p.Gly438Arg)
|
|
|
NM_001846.4(COL4A2):c.1856G>A (p.Gly619Asp)
|
rs1594088780
|
|
NM_001846.4(COL4A2):c.2203+1G>C
|
|
|
NM_001846.4(COL4A2):c.2902+1G>A
|
rs1882975083
|
|
NM_001846.4(COL4A2):c.3346+1G>A
|
rs2139534321
|
|
NM_001846.4(COL4A2):c.3472G>C (p.Gly1158Arg)
|
rs2139537197
|
|
NM_001846.4(COL4A2):c.3625G>A (p.Gly1209Arg)
|
rs2139538791
|
|
NM_001846.4(COL4A2):c.3634G>A (p.Gly1212Ser)
|
|
|
NM_001846.4(COL4A2):c.4049G>A (p.Gly1350Asp)
|
rs2139552522
|
|
NM_001846.4(COL4A2):c.4151_4168del (p.Thr1384_Gly1389del)
|
rs2139553210
|
|
NM_001846.4(COL4A2):c.4183C>T (p.Gln1395Ter)
|
|
|
NM_001846.4(COL4A2):c.4557C>A (p.Tyr1519Ter)
|
rs2139558301
|
|
NM_001846.4(COL4A2):c.4937G>C (p.Cys1646Ser)
|
|
|
NM_001846.4(COL4A2):c.520_523delinsACA (p.Leu174fs)
|
|
|
NM_001846.4(COL4A2):c.668G>A (p.Gly223Glu)
|
rs2139460629
|
|
NM_001846.4(COL4A2):c.957+2T>C
|
rs1013146465
|
|
NM_001852.4(COL9A2):c.1145G>T (p.Gly382Val)
|
rs1431787303
|
|
NM_001854.4(COL11A1):c.2752A>G (p.Arg918Gly)
|
rs2101678782
|
|
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg)
|
rs121913399
|
|
NM_001904.4(CTNNB1):c.1016_1025delinsT (p.Thr339_Arg342delinsIle)
|
rs1559470315
|
|
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val)
|
rs28931589
|
|
NM_001904.4(CTNNB1):c.1043C>T (p.Ser348Phe)
|
|
|
NM_001904.4(CTNNB1):c.109T>C (p.Ser37Pro)
|
rs121913228
|
|
NM_001904.4(CTNNB1):c.109T>G (p.Ser37Ala)
|
rs121913228
|
|
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr)
|
rs121913403
|
|
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys)
|
rs121913403
|
|
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe)
|
rs121913403
|
|
NM_001904.4(CTNNB1):c.1178dup (p.Thr393_Lys394insTer)
|
rs2125638080
|
|
NM_001904.4(CTNNB1):c.1186-3T>G
|
rs1212452748
|
|
NM_001904.4(CTNNB1):c.1271T>G (p.Leu424Arg)
|
rs863224864
|
|
NM_001904.4(CTNNB1):c.1287C>A (p.Cys429Ter)
|
rs2078362215
|
|
NM_001904.4(CTNNB1):c.1309_1316del (p.Met437fs)
|
|
|
NM_001904.4(CTNNB1):c.1314dup (p.Cys439fs)
|
|
|
NM_001904.4(CTNNB1):c.133T>G (p.Ser45Ala)
|
rs121913407
|
|
NM_001904.4(CTNNB1):c.1524+2T>A
|
rs878960699
|
|
NM_001904.4(CTNNB1):c.1690dup (p.Val564fs)
|
|
|
NM_001904.4(CTNNB1):c.1723G>A (p.Gly575Arg)
|
rs797044875
|
|
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter)
|
rs1064796453
|
|
NM_001904.4(CTNNB1):c.1981C>T (p.Arg661Ter)
|
rs748294403
|
|
NM_001904.4(CTNNB1):c.2076G>C (p.Glu692Asp)
|
rs1559477241
|
|
NM_001904.4(CTNNB1):c.2125dup (p.Tyr709fs)
|
|
|
NM_001904.4(CTNNB1):c.2273del (p.His758fs)
|
rs1575339920
|
|
NM_001904.4(CTNNB1):c.242-5T>G
|
rs2125619523
|
|
NM_001904.4(CTNNB1):c.496-2A>G
|
|
|
NM_001904.4(CTNNB1):c.923del (p.Asn308fs)
|
|
|
NM_001904.4(CTNNB1):c.94G>A (p.Asp32Asn)
|
rs28931588
|
|
NM_001904.4(CTNNB1):c.94G>C (p.Asp32His)
|
rs28931588
|
|
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)
|
rs28931588
|
|
NM_001904.4(CTNNB1):c.95A>C (p.Asp32Ala)
|
rs121913396
|
|
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly)
|
rs121913396
|
|
NM_001904.4(CTNNB1):c.95A>T (p.Asp32Val)
|
rs121913396
|
|
NM_001904.4(CTNNB1):c.97T>A (p.Ser33Thr)
|
rs1057519886
|
|
NM_001904.4(CTNNB1):c.97T>C (p.Ser33Pro)
|
rs1057519886
|
|
NM_001904.4(CTNNB1):c.97T>G (p.Ser33Ala)
|
rs1057519886
|
|
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)
|
rs121913400
|
|
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys)
|
rs121913400
|
|
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)
|
rs121913400
|
|
NM_001904.4:c.1_1081del
|
|
|
NM_001909.5(CTSD):c.228+1G>A
|
rs766300396
|
|
NM_001909.5(CTSD):c.228+1G>T
|
rs766300396
|
|
NM_001909.5(CTSD):c.268del (p.Gln90fs)
|
rs752612332
|
|
NM_001909.5(CTSD):c.675_704+1dup
|
|
|
NM_001909.5(CTSD):c.68+1G>A
|
|
|
NM_001909.5(CTSD):c.683TCT[1] (p.Phe229del)
|
rs1057519591
|
|
NM_001909.5(CTSD):c.69-1G>A
|
|
|
NM_001909.5(CTSD):c.704+1G>T
|
|
|
NM_001909.5(CTSD):c.824_827+30del
|
rs2133659840
|
|
NM_001909.5(CTSD):c.827+2T>C
|
rs1845791308
|
|
NM_001909.5(CTSD):c.828-2A>C
|
|
|
NM_001909.5(CTSD):c.972+1G>C
|
|
|
NM_001931.5(DLAT):c.381+1G>T
|
|
|
NM_001931.5(DLAT):c.470T>G (p.Val157Gly)
|
rs797044957
|
|
NM_001931.5(DLAT):c.848_849del (p.Asp283fs)
|
rs782704553
|
|
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3])
|
rs2138219961
|
|
NM_001943.5(DSG2):c.1332_1354del (p.Ser445_Glu446insTer)
|
rs2073222422
|
|
NM_001958.5(EEF1A2):c.1138G>C (p.Asp380His)
|
rs2082366378
|
|
NM_001958.5(EEF1A2):c.1141C>T (p.Arg381Trp)
|
rs1568994522
|
|
NM_001958.5(EEF1A2):c.1150G>C (p.Gly384Arg)
|
rs1555883384
|
|
NM_001958.5(EEF1A2):c.1259C>G (p.Pro420Arg)
|
|
|
NM_001958.5(EEF1A2):c.1295C>T (p.Thr432Met)
|
rs2082362479
|
|
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe)
|
rs1057521655
|
|
NM_001958.5(EEF1A2):c.332G>A (p.Cys111Tyr)
|
rs2145944981
|
|
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
|
|
|
NM_001958.5(EEF1A2):c.370G>A (p.Glu124Lys)
|
rs886042041
|
|
NM_001958.5(EEF1A2):c.43C>A (p.His15Asn)
|
|
|
NM_001958.5(EEF1A2):c.46G>C (p.Val16Leu)
|
rs2082424831
|
|
NM_001958.5(EEF1A2):c.47T>C (p.Val16Ala)
|
rs1600909763
|
|
NM_001958.5(EEF1A2):c.50_51delinsGA (p.Asp17Gly)
|
rs2145946848
|
|
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)
|
rs1555883505
|
|
NM_001958.5(EEF1A2):c.821C>T (p.Pro274Leu)
|
|
|
NM_001958.5(EEF1A2):c.863A>G (p.Glu288Gly)
|
rs1555883501
|
|
NM_001961.4(EEF2):c.2314G>A (p.Glu772Lys)
|
rs2145355764
|
|
NM_001999.4(FBN2):c.1064G>A (p.Gly355Asp)
|
rs730882230
|
|
NM_002024.6(FMR1):c.1622_1636del (p.Gln541_Gly545del)
|
|
|
NM_002024.6(FMR1):c.199-2A>G
|
rs1057518850
|
|
NM_002024.6(FMR1):c.673G>A (p.Val225Ile)
|
|
|
NM_002025.4(AFF2):c.2885G>A (p.Cys962Tyr)
|
rs1212059076
|
|
NM_002025.4(AFF2):c.3481C>T (p.Arg1161Ter)
|
rs2124413117
|
|
NM_002063.4(GLRA2):c.777C>G (p.Ile259Met)
|
rs2147096455
|
|
NM_002074.5(GNB1):c.154C>T (p.Arg52Trp)
|
rs2100858748
|
|
NM_002074.5(GNB1):c.158G>A (p.Gly53Glu)
|
rs1557898800
|
|
NM_002074.5(GNB1):c.183G>T (p.Met61Ile)
|
|
|
NM_002074.5(GNB1):c.217G>A (p.Ala73Thr)
|
|
|
NM_002074.5(GNB1):c.226G>A (p.Asp76Asn)
|
rs1646697327
|
|
NM_002074.5(GNB1):c.230G>A (p.Gly77Asp)
|
rs1135401746
|
|
NM_002074.5(GNB1):c.230G>C (p.Gly77Ala)
|
rs1135401746
|
|
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg)
|
rs869312823
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002074.5(GNB1):c.239T>G (p.Ile80Ser)
|
rs752746786
|
|
NM_002074.5(GNB1):c.326G>A (p.Gly109Glu)
|
|
|
NM_002074.5(GNB1):c.487G>A (p.Asp163Asn)
|
rs2100546220
|
|
NM_002074.5(GNB1):c.496T>C (p.Cys166Arg)
|
rs2100546091
|
|
NM_002074.5(GNB1):c.498-2A>G
|
|
|
NM_002074.5(GNB1):c.814G>A (p.Gly272Arg)
|
|
|
NM_002074.5(GNB1):c.93_94del (p.Gln32fs)
|
|
|
NM_002074.5(GNB1):c.976G>A (p.Ala326Thr)
|
rs869312826
|
|
NM_002080.4(GOT2):c.1097G>T (p.Gly366Val)
|
rs1597696047
|
|
NM_002080.4(GOT2):c.618TCT[2] (p.Leu209del)
|
rs1473654961
|
|
NM_002080.4(GOT2):c.784C>G (p.Arg262Gly)
|
rs752927520
|
|
NM_002087.4(GRN):c.1179+1G>C
|
|
|
NM_002087.4(GRN):c.1414-15_1591del
|
|
|
NM_002087.4(GRN):c.264+1G>A
|
rs1567885728
|
|
NM_002087.4(GRN):c.265-2A>T
|
|
|
NM_002087.4(GRN):c.599-1G>A
|
rs1555611154
|
|
NM_002087.4(GRN):c.835+1G>A
|
rs606231221
|
|
NM_002087.4(GRN):c.933+1G>A
|
rs63750707
|
|
NM_002087.4(GRN):c.934-11_936del
|
|
|
NM_002087.4(GRN):c.934-1G>A
|
rs2143340416
|
|
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg)
|
rs1057519902
|
|
NM_002107.7(H3-3A):c.121C>T (p.Arg41Cys)
|
rs2102735801
|
|
NM_002107.7(H3-3A):c.166C>A (p.Gln56Lys)
|
rs2102736976
|
|
NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg)
|
rs2102737050
|
|
NM_002107.7(H3-3A):c.363G>A (p.Met121Ile)
|
rs2102742562
|
|
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu)
|
rs1576203003
|
|
NM_002107.7(H3-3A):c.386G>A (p.Arg129His)
|
rs1658121882
|
|
NM_002107.7(H3-3A):c.83A>T (p.Lys28Met)
|
rs1057519903
|
|
NM_002139.4(RBMX):c.388G>T (p.Asp130Tyr)
|
|
|
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly)
|
rs1057519906
|
|
NM_002168.4(IDH2):c.514A>T (p.Arg172Trp)
|
rs1057519906
|
|
NM_002168.4(IDH2):c.515G>A (p.Arg172Lys)
|
rs121913503
|
|
NM_002168.4(IDH2):c.515G>T (p.Arg172Met)
|
rs121913503
|
|
NM_002232.5(KCNA3):c.1070C>T (p.Ala357Val)
|
|
|
NM_002232.5(KCNA3):c.1292T>A (p.Ile431Asn)
|
|
|
NM_002232.5(KCNA3):c.1328C>T (p.Thr443Ile)
|
|
|
NM_002232.5(KCNA3):c.1363A>G (p.Ile455Val)
|
rs2100949783
|
|
NM_002232.5(KCNA3):c.1378G>A (p.Val460Met)
|
|
|
NM_002232.5(KCNA3):c.1402_1403delinsTT (p.Gly468Phe)
|
|
|
NM_002232.5(KCNA3):c.1430C>A (p.Pro477His)
|
|
|
NM_002232.5(KCNA3):c.1432G>A (p.Val478Met)
|
|
|
NM_002232.5(KCNA3):c.32C>G (p.Pro11Arg)
|
|
|
NM_002235.5(KCNA6):c.1367T>A (p.Val456Asp)
|
|
|
NM_002291.3(LAMB1):c.5002del (p.Glu1668fs)
|
rs1278743247
|
|
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)
|
rs2153074771
|
|
NM_002397.5(MEF2C):c.104T>G (p.Leu35Arg)
|
rs2153074771
|
|
NM_002397.5(MEF2C):c.106A>C (p.Ser36Arg)
|
|
|
NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)
|
|
|
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)
|
rs1799660837
|
|
NM_002397.5(MEF2C):c.1420T>A (p.Ter474Arg)
|
rs1227804681
|
|
NM_002397.5(MEF2C):c.170A>G (p.Tyr57Cys)
|
rs2153074319
|
|
NM_002397.5(MEF2C):c.177C>G (p.Ser59Arg)
|
rs1554139743
|
|
NM_002397.5(MEF2C):c.17T>A (p.Ile6Asn)
|
rs2153222922
|
|
NM_002397.5(MEF2C):c.194T>G (p.Val65Gly)
|
rs1580988074
|
|
NM_002397.5(MEF2C):c.216C>G (p.Tyr72Ter)
|
|
|
NM_002397.5(MEF2C):c.22A>C (p.Ile8Leu)
|
|
|
NM_002397.5(MEF2C):c.258+1G>A
|
rs1064797310
|
|
NM_002397.5(MEF2C):c.258+5G>C
|
rs2153073717
|
|
NM_002397.5(MEF2C):c.258G>A (p.Glu86=)
|
rs796052724
|
|
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)
|
rs545185248
|
|
NM_002397.5(MEF2C):c.301C>A (p.Pro101Thr)
|
|
|
NM_002397.5(MEF2C):c.402+146C>A
|
rs1358670337
|
|
NM_002397.5(MEF2C):c.402+184del
|
rs2152669802
|
|
NM_002397.5(MEF2C):c.43C>T (p.Arg15Cys)
|
rs796052728
|
|
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)
|
rs1202957297
|
|
NM_002397.5(MEF2C):c.532C>T (p.Gln178Ter)
|
rs1772953161
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
NM_002397.5(MEF2C):c.637+1G>C
|
rs2152497250
|
|
NM_002397.5(MEF2C):c.637+1G>T
|
|
|
NM_002397.5(MEF2C):c.638-1G>A
|
rs2152281284
|
|
NM_002397.5(MEF2C):c.68A>G (p.Lys23Arg)
|
rs797045053
|
|
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys)
|
rs869312698
|
|
NM_002397.5(MEF2C):c.728dup (p.Met244fs)
|
|
|
NM_002397.5(MEF2C):c.79G>A (p.Gly27Arg)
|
|
|
NM_002397.5(MEF2C):c.810+2T>C
|
|
|
NM_002397.5(MEF2C):c.835-2A>G
|
|
|
NM_002397.5(MEF2C):c.89A>C (p.Lys30Thr)
|
|
|
NM_002402.4(MEST):c.559C>T (p.Pro187Ser)
|
rs863223353
|
|
NM_002508.3(NID1):c.3385+1G>A
|
rs730882225
|
|
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)
|
rs121913254
|
|
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)
|
rs11554290
|
|
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)
|
rs11554290
|
|
NM_002524.5(NRAS):c.183A>T (p.Gln61His)
|
rs121913255
|
|
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)
|
rs121434595
|
|
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)
|
rs121434596
|
|
NM_002524.5(NRAS):c.38G>T (p.Gly13Val)
|
rs121434596
|
|
NM_002547.3(OPHN1):c.1081_1082insT (p.Glu361fs)
|
|
|
NM_002547.3(OPHN1):c.1105-13_1109del
|
rs2077502210
|
|
NM_002547.3(OPHN1):c.116_127del (p.Val39_Asp42del)
|
rs2078892867
|
|
NM_002547.3(OPHN1):c.1202-1G>A
|
rs2147456067
|
|
NM_002547.3(OPHN1):c.1361G>A (p.Arg454Lys)
|
rs1602169116
|
|
NM_002547.3(OPHN1):c.1450_1453dup (p.Ile485fs)
|
|
|
NM_002547.3(OPHN1):c.1526+1G>A
|
rs2147429591
|
|
NM_002547.3(OPHN1):c.1586G>A (p.Gly529Glu)
|
rs2147404496
|
|
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn)
|
rs869312676
|
|
NM_002547.3(OPHN1):c.597+1del
|
|
|
NM_002547.3(OPHN1):c.598-1G>C
|
|
|
NM_002547.3(OPHN1):c.702+4A>G
|
rs2147481894
|
|
NM_002547.3(OPHN1):c.702+4A>T
|
rs2147481894
|
|
NM_002578.5(PAK3):c.1066G>T (p.Glu356Ter)
|
rs2149325212
|
|
NM_002578.5(PAK3):c.1112G>A (p.Cys371Tyr)
|
rs1603377813
|
|
NM_002578.5(PAK3):c.1182del (p.Leu395fs)
|
|
|
NM_002578.5(PAK3):c.1270G>A (p.Gly424Arg)
|
rs1569459580
|
|
NM_002578.5(PAK3):c.1282T>A (p.Trp428Arg)
|
rs1603378331
|
|
NM_002578.5(PAK3):c.176-1G>A
|
|
|
NM_002578.5(PAK3):c.298C>T (p.Arg100Ter)
|
rs780775497
|
|
NM_002578.5(PAK3):c.403C>T (p.Gln135Ter)
|
rs2093969640
|
|
NM_002608.4(PDGFB):c.-318C>T
|
|
|
NM_002608.4(PDGFB):c.-373C>G
|
|
|
NM_002608.4(PDGFB):c.1A>G (p.Met1Val)
|
rs1932632616
|
|
NM_002608.4(PDGFB):c.598C>T (p.Arg200Ter)
|
rs1932260742
|
|
NM_002609.4(PDGFRB):c.1696T>C (p.Trp566Arg)
|
rs1060499542
|
|
NM_002609.4(PDGFRB):c.2083C>T (p.Arg695Cys)
|
rs138008832
|
|
NM_002617.4(PEX10):c.113-1G>C
|
|
|
NM_002617.4(PEX10):c.125G>A (p.Trp42Ter)
|
|
|
NM_002617.4(PEX10):c.135G>A (p.Trp45Ter)
|
|
|
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
|
|
|
NM_002617.4(PEX10):c.142dup (p.Glu48fs)
|
|
|
NM_002617.4(PEX10):c.157_158del (p.Ser53fs)
|
rs1384671249
|
|
NM_002617.4(PEX10):c.200A>G (p.Gln67Arg)
|
|
|
NM_002617.4(PEX10):c.20del (p.Ser7fs)
|
rs1553232926
|
|
NM_002617.4(PEX10):c.219C>G (p.Tyr73Ter)
|
rs531987102
|
|
NM_002617.4(PEX10):c.222_223del (p.Ser75fs)
|
|
|
NM_002617.4(PEX10):c.247_251del (p.Arg83fs)
|
|
|
NM_002617.4(PEX10):c.26del (p.Pro9fs)
|
rs1553232917
|
|
NM_002617.4(PEX10):c.295del (p.His99fs)
|
rs1557910651
|
|
NM_002617.4(PEX10):c.335_338del (p.Pro112fs)
|
rs2100429450
|
|
NM_002617.4(PEX10):c.338del (p.Leu113fs)
|
rs878853044
|
|
NM_002617.4(PEX10):c.346_363delinsTGGGCCCCTG (p.Glu116fs)
|
|
|
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)
|
rs369965266
|
|
NM_002617.4(PEX10):c.401_416dup (p.Gly140fs)
|
rs2100429011
|
|
NM_002617.4(PEX10):c.408_423dup (p.Arg142fs)
|
|
|
NM_002617.4(PEX10):c.424_425dup (p.Arg143fs)
|
|
|
NM_002617.4(PEX10):c.445_452del (p.Thr149fs)
|
|
|
NM_002617.4(PEX10):c.4del (p.Ala2fs)
|
rs62636524
|
|
NM_002617.4(PEX10):c.522_523del (p.Gln175fs)
|
|
|
NM_002617.4(PEX10):c.542G>A (p.Trp181Ter)
|
|
|
NM_002617.4(PEX10):c.551del (p.Ile184fs)
|
rs1557910202
|
|
NM_002617.4(PEX10):c.587del (p.Thr196fs)
|
|
|
NM_002617.4(PEX10):c.592del (p.Ile198fs)
|
|
|
NM_002617.4(PEX10):c.600+1del
|
rs1553232077
|
|
NM_002617.4(PEX10):c.600C>G (p.Tyr200Ter)
|
|
|
NM_002617.4(PEX10):c.601-18dup
|
|
|
NM_002617.4(PEX10):c.601-24_601-23del
|
rs1553231875
|
|
NM_002617.4(PEX10):c.601-26_601-25delinsCTC
|
rs1553231888
|
|
NM_002617.4(PEX10):c.601-38_601-37del
|
rs1553231896
|
|
NM_002617.4(PEX10):c.601-61G>A
|
|
|
NM_002617.4(PEX10):c.618del (p.Gly208fs)
|
|
|
NM_002617.4(PEX10):c.692_703del (p.Ser231_Gln235delinsTer)
|
rs768893724
|
|
NM_002617.4(PEX10):c.703C>T (p.Gln235Ter)
|
rs1295555837
|
|
NM_002617.4(PEX10):c.746G>A (p.Trp249Ter)
|
|
|
NM_002617.4(PEX10):c.755_756del (p.His252fs)
|
rs1325771720
|
|
NM_002617.4(PEX10):c.761del (p.Gly254fs)
|
rs1553231820
|
|
NM_002617.4(PEX10):c.773_776+17del
|
|
|
NM_002617.4(PEX10):c.776+1G>A
|
|
|
NM_002617.4(PEX10):c.776+1G>C
|
rs869312935
|
|
NM_002617.4(PEX10):c.776+2T>A
|
rs1335685844
|
|
NM_002617.4(PEX10):c.777-1G>A
|
|
|
NM_002617.4(PEX10):c.790G>T (p.Glu264Ter)
|
rs769251149
|
|
NM_002617.4(PEX10):c.795_796del (p.Arg265fs)
|
rs1553231787
|
|
NM_002617.4(PEX10):c.813_814del (p.Leu272fs)
|
|
|
NM_002617.4(PEX10):c.815del (p.Leu272fs)
|
rs1553231783
|
|
NM_002617.4(PEX10):c.830T>C (p.Leu277Pro)
|
rs724160000
|
|
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)
|
rs62641225
|
|
NM_002617.4(PEX10):c.844_848del (p.His282fs)
|
|
|
NM_002617.4(PEX10):c.868dup (p.His290fs)
|
|
|
NM_002617.4(PEX10):c.8del (p.Pro3fs)
|
|
|
NM_002617.4(PEX10):c.912+1G>A
|
rs1553231739
|
|
NM_002617.4(PEX10):c.912+1G>C
|
rs1553231739
|
|
NM_002617.4(PEX10):c.916del (p.Glu306fs)
|
rs2100419143
|
|
NM_002618.4(PEX13):c.787+1G>A
|
rs2104803776
|
|
NM_002618.4(PEX13):c.92+1G>A
|
|
|
NM_002618.4(PEX13):c.93-1G>A
|
|
|
NM_002641.4(PIGA):c.1183G>A (p.Glu395Lys)
|
rs1060499666
|
|
NM_002641.4(PIGA):c.1352T>C (p.Ile451Thr)
|
rs2147714706
|
|
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val)
|
rs1921817445
|
|
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs)
|
rs1602206514
|
|
NM_002641.4(PIGA):c.145G>A (p.Val49Met)
|
rs1569180100
|
|
NM_002641.4(PIGA):c.188G>C (p.Arg63Thr)
|
|
|
NM_002641.4(PIGA):c.193C>T (p.His65Tyr)
|
rs1602212285
|
|
NM_002641.4(PIGA):c.1A>G (p.Met1Val)
|
rs1922179572
|
|
NM_002641.4(PIGA):c.242G>A (p.Arg81His)
|
rs1922162801
|
|
NM_002641.4(PIGA):c.268T>C (p.Tyr90His)
|
|
|
NM_002641.4(PIGA):c.355C>T (p.Arg119Trp)
|
rs587777396
|
|
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
|
|
|
NM_002641.4(PIGA):c.368C>T (p.Thr123Met)
|
rs1555945480
|
|
NM_002641.4(PIGA):c.395C>G (p.Ser132Cys)
|
rs1060499625
|
|
NM_002641.4(PIGA):c.56G>A (p.Arg19Gln)
|
rs1555945553
|
|
NM_002641.4(PIGA):c.986T>C (p.Val329Ala)
|
rs1921924356
|
|
NM_002641.4(PIGA):c.98A>G (p.His33Arg)
|
rs797044924
|
|
NM_002655.3(PLAG1):c.1190_1197del (p.Asp397fs)
|
rs2129224282
|
|
NM_002691.4(POLD1):c.3219C>G (p.Ser1073Arg)
|
rs2122521078
|
|
NM_002693.2(POLG):c.[2554C>T];[32G>A]
|
|
|
NM_002693.2(POLG):c.[2693T>C];[924G>T]
|
|
|
NM_002693.3(POLG):c.1023+1G>A
|
|
|
NM_002693.3(POLG):c.1024-1G>C
|
rs1567192203
|
|
NM_002693.3(POLG):c.1202G>A (p.Trp401Ter)
|
|
|
NM_002693.3(POLG):c.1250G>C (p.Arg417Thr)
|
|
|
NM_002693.3(POLG):c.1276G>A (p.Gly426Ser)
|
rs775576189
|
|
NM_002693.3(POLG):c.1341_1342dup (p.Ala448fs)
|
|
|
NM_002693.3(POLG):c.1360G>T (p.Glu454Ter)
|
|
|
NM_002693.3(POLG):c.1362G>T (p.Glu454Asp)
|
rs1596358408
|
|
NM_002693.3(POLG):c.1400C>A (p.Ala467Asp)
|
|
|
NM_002693.3(POLG):c.1418T>C (p.Leu473Pro)
|
rs1567191334
|
|
NM_002693.3(POLG):c.1586-1G>A
|
rs2055524549
|
|
NM_002693.3(POLG):c.158_159insGC (p.Gln54fs)
|
|
|
NM_002693.3(POLG):c.160C>T (p.Gln54Ter)
|
rs774768199
|
|
NM_002693.3(POLG):c.1640_1641del (p.Ala547fs)
|
|
|
NM_002693.3(POLG):c.172C>T (p.Gln58Ter)
|
rs2055625602
|
|
NM_002693.3(POLG):c.1763G>A (p.Gly588Asp)
|
rs371334941
|
|
NM_002693.3(POLG):c.1789C>G (p.Arg597Gly)
|
rs139717885
|
|
NM_002693.3(POLG):c.1845dup (p.Glu616fs)
|
|
|
NM_002693.3(POLG):c.1862G>A (p.Gly621Asp)
|
rs1567190247
|
|
NM_002693.3(POLG):c.1874C>G (p.Pro625Arg)
|
|
|
NM_002693.3(POLG):c.1942C>T (p.Pro648Ser)
|
|
|
NM_002693.3(POLG):c.1942_1943delinsAG (p.Pro648Ser)
|
|
|
NM_002693.3(POLG):c.1944del (p.Tyr649fs)
|
|
|
NM_002693.3(POLG):c.1950-1G>A
|
|
|
NM_002693.3(POLG):c.1950-2A>G
|
rs2152063472
|
|
NM_002693.3(POLG):c.2070+2T>G
|
|
|
NM_002693.3(POLG):c.2262C>G (p.His754Gln)
|
rs1567188178
|
|
NM_002693.3(POLG):c.2265+1G>A
|
|
|
NM_002693.3(POLG):c.2266-1G>A
|
rs2152062443
|
|
NM_002693.3(POLG):c.2287G>C (p.Gly763Arg)
|
rs1567187837
|
|
NM_002693.3(POLG):c.2293C>A (p.Pro765Thr)
|
rs1003442806
|
|
NM_002693.3(POLG):c.2310C>A (p.Phe770Leu)
|
rs755315398
|
|
NM_002693.3(POLG):c.2341G>A (p.Ala781Thr)
|
|
|
NM_002693.3(POLG):c.2341G>C (p.Ala781Pro)
|
|
|
NM_002693.3(POLG):c.2391_2393del (p.Met797del)
|
rs1567187766
|
|
NM_002693.3(POLG):c.2395del (p.Ser799fs)
|
rs796052919
|
|
NM_002693.3(POLG):c.2426+1G>A
|
|
|
NM_002693.3(POLG):c.2480+2T>C
|
|
|
NM_002693.3(POLG):c.248T>C (p.Leu83Pro)
|
rs1567194243
|
|
NM_002693.3(POLG):c.2515del (p.Ala839fs)
|
rs1596352895
|
|
NM_002693.3(POLG):c.2539G>A (p.Ala847Thr)
|
rs750203541
|
|
NM_002693.3(POLG):c.2552C>A (p.Thr851Asn)
|
|
|
NM_002693.3(POLG):c.2552C>G (p.Thr851Ser)
|
|
|
NM_002693.3(POLG):c.2555G>A (p.Arg852His)
|
rs1567187093
|
|
NM_002693.3(POLG):c.2557C>G (p.Arg853Gly)
|
|
|
NM_002693.3(POLG):c.2584G>A (p.Ala862Thr)
|
rs778429780
|
|
NM_002693.3(POLG):c.2585C>T (p.Ala862Val)
|
rs2152061668
|
|
NM_002693.3(POLG):c.2589C>G (p.Ser863Arg)
|
rs1567187057
|
|
NM_002693.3(POLG):c.2591A>T (p.Asn864Ile)
|
rs121918050
|
|
NM_002693.3(POLG):c.2598+1G>A
|
|
|
NM_002693.3(POLG):c.2598+2T>C
|
rs1596352762
|
|
NM_002693.3(POLG):c.2606G>A (p.Arg869Gln)
|
rs1356604153
|
|
NM_002693.3(POLG):c.2639C>A (p.Ala880Asp)
|
|
|
NM_002693.3(POLG):c.2665G>C (p.Ala889Pro)
|
rs763393580
|
|
NM_002693.3(POLG):c.2666C>T (p.Ala889Val)
|
|
|
NM_002693.3(POLG):c.2740A>G (p.Thr914Ala)
|
|
|
NM_002693.3(POLG):c.2788G>A (p.Asp930Asn)
|
|
|
NM_002693.3(POLG):c.2789A>G (p.Asp930Gly)
|
|
|
NM_002693.3(POLG):c.2792T>G (p.Leu931Arg)
|
rs1484810169
|
|
NM_002693.3(POLG):c.2797A>C (p.Ser933Arg)
|
|
|
NM_002693.3(POLG):c.2798G>A (p.Ser933Asn)
|
|
|
NM_002693.3(POLG):c.2854G>A (p.Gly952Ser)
|
rs531744363
|
|
NM_002693.3(POLG):c.2858G>A (p.Arg953His)
|
rs1567186581
|
|
NM_002693.3(POLG):c.2869G>T (p.Ala957Ser)
|
rs121918051
|
|
NM_002693.3(POLG):c.2884dup (p.Ala962fs)
|
rs1252078081
|
|
NM_002693.3(POLG):c.2951_2954dup (p.Met985fs)
|
|
|
NM_002693.3(POLG):c.2981+1G>C
|
|
|
NM_002693.3(POLG):c.2981+2T>G
|
rs775260762
|
|
NM_002693.3(POLG):c.2982-1G>A
|
|
|
NM_002693.3(POLG):c.3104+1G>T
|
|
|
NM_002693.3(POLG):c.3104+2_3104+5del
|
rs761664802
|
|
NM_002693.3(POLG):c.3151G>C (p.Gly1051Arg)
|
rs121918049
|
|
NM_002693.3(POLG):c.3151G>T (p.Gly1051Trp)
|
rs121918049
|
|
NM_002693.3(POLG):c.3152G>A (p.Gly1051Glu)
|
rs775248939
|
|
NM_002693.3(POLG):c.3152G>C (p.Gly1051Ala)
|
|
|
NM_002693.3(POLG):c.3161_3162del (p.Glu1054fs)
|
|
|
NM_002693.3(POLG):c.3229T>G (p.Cys1077Gly)
|
rs1567185468
|
|
NM_002693.3(POLG):c.3229dup (p.Cys1077fs)
|
|
|
NM_002693.3(POLG):c.3240_3242dup (p.Arg1081dup)
|
rs1064794213
|
|
NM_002693.3(POLG):c.3242G>C (p.Arg1081Pro)
|
rs140079523
|
|
NM_002693.3(POLG):c.3277_3278del (p.Met1093fs)
|
|
|
NM_002693.3(POLG):c.3282del (p.Ser1095fs)
|
rs1596350117
|
|
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)
|
rs201732356
|
|
NM_002693.3(POLG):c.3287G>T (p.Arg1096Leu)
|
rs368435864
|
|
NM_002693.3(POLG):c.3296G>A (p.Trp1099Ter)
|
rs2055345819
|
|
NM_002693.3(POLG):c.3311C>G (p.Ser1104Cys)
|
|
|
NM_002693.3(POLG):c.3328C>A (p.His1110Asn)
|
|
|
NM_002693.3(POLG):c.3328C>T (p.His1110Tyr)
|
rs2152058760
|
|
NM_002693.3(POLG):c.3338T>C (p.Leu1113Pro)
|
rs1567185178
|
|
NM_002693.3(POLG):c.3358_3361dup (p.Glu1121delinsValTer)
|
rs1064793800
|
|
NM_002693.3(POLG):c.3400C>T (p.His1134Tyr)
|
|
|
NM_002693.3(POLG):c.3402T>G (p.His1134Gln)
|
|
|
NM_002693.3(POLG):c.3412C>T (p.Arg1138Cys)
|
rs767138032
|
|
NM_002693.3(POLG):c.3482+2T>C
|
rs1466226819
|
|
NM_002693.3(POLG):c.3483-2A>G
|
rs1057518035
|
|
NM_002693.3(POLG):c.3483-7_3509del
|
|
|
NM_002693.3(POLG):c.3509T>G (p.Leu1170Arg)
|
rs796052913
|
|
NM_002693.3(POLG):c.3528_3531del (p.Val1177fs)
|
rs1596348547
|
|
NM_002693.3(POLG):c.3528_3531dup (p.Ala1178fs)
|
|
|
NM_002693.3(POLG):c.3538_3539dup (p.Ala1182fs)
|
|
|
NM_002693.3(POLG):c.3551A>G (p.Asp1184Gly)
|
|
|
NM_002693.3(POLG):c.3562T>C (p.Cys1188Arg)
|
rs754844175
|
|
NM_002693.3(POLG):c.3565dup (p.Leu1189fs)
|
|
|
NM_002693.3(POLG):c.3568del (p.Arg1190fs)
|
rs1596348470
|
|
NM_002693.3(POLG):c.3574_3577del (p.Lys1191_Glu1192insTer)
|
rs1596348443
|
|
NM_002693.3(POLG):c.3609_3612dup (p.Gly1205fs)
|
rs886043241
|
|
NM_002693.3(POLG):c.3614G>C (p.Gly1205Ala)
|
rs772737979
|
|
NM_002693.3(POLG):c.368T>G (p.Val123Gly)
|
|
|
NM_002693.3(POLG):c.470T>C (p.Leu157Pro)
|
rs1567194013
|
|
NM_002693.3(POLG):c.508del (p.Ala170fs)
|
|
|
NM_002693.3(POLG):c.624C>A (p.Cys208Ter)
|
rs1159974816
|
|
NM_002693.3(POLG):c.659+1G>T
|
|
|
NM_002693.3(POLG):c.660-2A>G
|
rs2141806882
|
|
NM_002693.3(POLG):c.730C>T (p.Leu244Phe)
|
|
|
NM_002693.3(POLG):c.793_794del (p.Leu265fs)
|
|
|
NM_002693.3(POLG):c.824G>A (p.Arg275Gln)
|
rs1555453950
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
NM_002693.3(POLG):c.884dup (p.Met295fs)
|
|
|
NM_002693.3(POLG):c.895A>C (p.Met299Leu)
|
|
|
NM_002693.3(POLG):c.934_935del (p.Trp312fs)
|
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)
|
rs797045900
|
|
NM_002739.5(PRKCG):c.1928T>G (p.Phe643Cys)
|
rs386134172
|
|
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)
|
rs1555806333
|
|
NM_002739.5(PRKCG):c.220C>T (p.His74Tyr)
|
rs2122976509
|
|
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)
|
rs1599938631
|
|
NM_002739.5(PRKCG):c.323A>G (p.Tyr108Cys)
|
rs2122988484
|
|
NM_002739.5(PRKCG):c.347A>G (p.His116Arg)
|
rs2068657131
|
|
NM_002739.5(PRKCG):c.358C>T (p.Leu120Phe)
|
rs2122988567
|
|
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)
|
rs386134164
|
|
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)
|
rs1599943097
|
|
NM_002739.5(PRKCG):c.380A>C (p.Gln127Pro)
|
rs121918515
|
|
NM_002739.5(PRKCG):c.381G>T (p.Gln127His)
|
rs973767996
|
|
NM_002739.5(PRKCG):c.394T>C (p.Ser132Pro)
|
rs2122988688
|
|
NM_002739.5(PRKCG):c.450C>G (p.Cys150Trp)
|
rs1385053433
|
|
NM_002739.5(PRKCG):c.466G>A (p.Glu156Lys)
|
rs1304701232
|
|
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)
|
rs1471641294
|
|
NM_002768.5(CHMP1A):c.346G>A (p.Glu116Lys)
|
rs1064794609
|
|
NM_002816.5(PSMD12):c.795+1G>A
|
rs2041974262
|
|
NM_002830.4(PTPN4):c.1738G>T (p.Asp580Tyr)
|
rs1679218434
|
|
NM_002834.5(PTPN11):c.1282G>C (p.Val428Leu)
|
rs397507536
|
|
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr)
|
rs121918453
|
|
NM_002834.5(PTPN11):c.215C>A (p.Ala72Asp)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.317A>G (p.Asp106Gly)
|
|
|
NM_002857.4(PEX19):c.180+1G>T
|
rs1320716582
|
|
NM_002857.4(PEX19):c.181-2A>G
|
rs2101804905
|
|
NM_002857.4(PEX19):c.281T>A (p.Leu94Ter)
|
|
|
NM_002857.4(PEX19):c.346+2T>C
|
rs1657837348
|
|
NM_002857.4(PEX19):c.594+1G>C
|
|
|
NM_002857.4(PEX19):c.70+2T>G
|
|
|
NM_002860.4(ALDH18A1):c.2024T>C (p.Ile675Thr)
|
rs989031241
|
|
NM_002911.4(UPF1):c.2489A>G (p.Gln830Arg)
|
rs2055786277
|
|
NM_002913.5(RFC1):c.1147C>T (p.Arg383Ter)
|
|
|
NM_002941.4(ROBO1):c.2440_2442+4del
|
|
|
NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter)
|
rs1569513495
|
|
NM_002979.5(SCP2):c.588dup
|
|
|
NM_003011.4(SET):c.138dup (p.Glu47Ter)
|
|
|
NM_003011.4(SET):c.219del (p.Glu73fs)
|
|
|
NM_003011.4(SET):c.340_341del (p.Glu114fs)
|
rs1861593395
|
|
NM_003011.4(SET):c.573del (p.Trp192fs)
|
rs1861625938
|
|
NM_003042.4(SLC6A1):c.1000G>A (p.Ala334Thr)
|
rs749240316
|
|
NM_003042.4(SLC6A1):c.1012A>T (p.Ile338Phe)
|
rs2124926302
|
|
NM_003042.4(SLC6A1):c.1070C>A (p.Ala357Glu)
|
rs1553689859
|
|
NM_003042.4(SLC6A1):c.1078+1G>C
|
|
|
NM_003042.4(SLC6A1):c.1084G>A (p.Gly362Arg)
|
rs1131691302
|
|
NM_003042.4(SLC6A1):c.1099G>A (p.Ala367Thr)
|
rs1697748409
|
|
NM_003042.4(SLC6A1):c.1151TCT[2] (p.Phe386del)
|
rs2124930894
|
|
NM_003042.4(SLC6A1):c.1191+1G>A
|
rs2124930966
|
|
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln)
|
rs794726859
|
|
NM_003042.4(SLC6A1):c.1328G>A (p.Gly443Asp)
|
rs1697891755
|
|
NM_003042.4(SLC6A1):c.1427-1G>A
|
rs1553691674
|
|
NM_003042.4(SLC6A1):c.1459A>G (p.Met487Val)
|
|
|
NM_003042.4(SLC6A1):c.1460T>C (p.Met487Thr)
|
rs1559639240
|
|
NM_003042.4(SLC6A1):c.149G>T (p.Arg50Leu)
|
rs766945941
|
|
NM_003042.4(SLC6A1):c.1527+1G>A
|
|
|
NM_003042.4(SLC6A1):c.1528-1G>C
|
rs1574924801
|
|
NM_003042.4(SLC6A1):c.1531G>T (p.Val511Leu)
|
|
|
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg)
|
rs886042046
|
|
NM_003042.4(SLC6A1):c.1695+1G>A
|
|
|
NM_003042.4(SLC6A1):c.179A>C (p.Tyr60Ser)
|
rs2124905507
|
|
NM_003042.4(SLC6A1):c.187G>A (p.Gly63Ser)
|
rs1057523845
|
|
NM_003042.4(SLC6A1):c.223G>A (p.Gly75Arg)
|
rs1064795852
|
|
NM_003042.4(SLC6A1):c.223G>C (p.Gly75Arg)
|
rs1064795852
|
|
NM_003042.4(SLC6A1):c.224G>A (p.Gly75Glu)
|
rs2124905654
|
|
NM_003042.4(SLC6A1):c.232G>T (p.Gly78Cys)
|
rs2124905696
|
|
NM_003042.4(SLC6A1):c.256T>C (p.Tyr86His)
|
|
|
NM_003042.4(SLC6A1):c.281G>A (p.Gly94Glu)
|
rs1553688015
|
|
NM_003042.4(SLC6A1):c.317A>G (p.Gln106Arg)
|
rs1064795290
|
|
NM_003042.4(SLC6A1):c.362del (p.Met121fs)
|
|
|
NM_003042.4(SLC6A1):c.370+2T>C
|
|
|
NM_003042.4(SLC6A1):c.370+2del
|
rs2124907093
|
|
NM_003042.4(SLC6A1):c.419A>G (p.Tyr140Cys)
|
rs1697264007
|
|
NM_003042.4(SLC6A1):c.471+1G>T
|
rs1559623389
|
|
NM_003042.4(SLC6A1):c.472-1G>C
|
rs1697337518
|
|
NM_003042.4(SLC6A1):c.518G>A (p.Cys173Tyr)
|
|
|
NM_003042.4(SLC6A1):c.581+1G>C
|
|
|
NM_003042.4(SLC6A1):c.695G>T (p.Gly232Val)
|
rs1697444014
|
|
NM_003042.4(SLC6A1):c.715-1G>C
|
|
|
NM_003042.4(SLC6A1):c.739C>T (p.Pro247Ser)
|
|
|
NM_003042.4(SLC6A1):c.757del (p.Ile253fs)
|
|
|
NM_003042.4(SLC6A1):c.801del (p.Ile268fs)
|
rs1574906665
|
|
NM_003042.4(SLC6A1):c.806T>C (p.Leu269Pro)
|
rs2124924369
|
|
NM_003042.4(SLC6A1):c.809T>C (p.Phe270Ser)
|
rs1553689580
|
|
NM_003042.4(SLC6A1):c.836T>C (p.Leu279Pro)
|
rs2124924511
|
|
NM_003042.4(SLC6A1):c.838_841del (p.Ser280fs)
|
rs2124924504
|
|
NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter)
|
rs2124924957
|
|
NM_003042.4(SLC6A1):c.862G>A (p.Ala288Thr)
|
rs2124924976
|
|
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val)
|
rs794726860
|
|
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del)
|
rs1574907198
|
|
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg)
|
rs876657400
|
|
NM_003042.4(SLC6A1):c.896G>T (p.Gly299Val)
|
|
|
NM_003042.4(SLC6A1):c.901_909del (p.Gly301_Leu303del)
|
|
|
NM_003042.4(SLC6A1):c.913G>A (p.Ala305Thr)
|
rs1391625316
|
|
NM_003042.4(SLC6A1):c.919G>A (p.Gly307Arg)
|
rs1553689696
|
|
NM_003042.4(SLC6A1):c.991A>G (p.Ser331Gly)
|
rs2124926212
|
|
NM_003047.5(SLC9A1):c.1048_1052dup (p.Gly352fs)
|
rs1221107969
|
|
NM_003054.6(SLC18A2):c.1160C>T (p.Pro387Leu)
|
rs1392638187
|
|
NM_003054.6(SLC18A2):c.710C>A (p.Pro237His)
|
rs767337086
|
|
NM_003070.5(SMARCA2):c.1258C>T (p.Arg420Cys)
|
|
|
NM_003070.5(SMARCA2):c.1514G>A (p.Arg505Gln)
|
rs1586657848
|
|
NM_003070.5(SMARCA2):c.1538G>A (p.Gly513Asp)
|
rs1586660338
|
|
NM_003070.5(SMARCA2):c.1538G>T (p.Gly513Val)
|
rs1586660338
|
|
NM_003070.5(SMARCA2):c.1553T>C (p.Ile518Thr)
|
rs1820558146
|
|
NM_003070.5(SMARCA2):c.1573C>T (p.Arg525Cys)
|
rs1586660370
|
|
NM_003070.5(SMARCA2):c.1574G>A (p.Arg525His)
|
rs1586660381
|
|
NM_003070.5(SMARCA2):c.1585C>G (p.Leu529Val)
|
rs1586660389
|
|
NM_003070.5(SMARCA2):c.1600G>A (p.Asp534Asn)
|
rs863224922
|
|
NM_003070.5(SMARCA2):c.1600G>T (p.Asp534Tyr)
|
rs863224922
|
|
NM_003070.5(SMARCA2):c.2254G>A (p.Gly752Arg)
|
rs1821581008
|
|
NM_003070.5(SMARCA2):c.2342C>G (p.Pro781Arg)
|
rs1821584135
|
|
NM_003070.5(SMARCA2):c.2348C>G (p.Ser783Trp)
|
rs1554623112
|
|
NM_003070.5(SMARCA2):c.2348C>T (p.Ser783Leu)
|
rs1554623112
|
|
NM_003070.5(SMARCA2):c.2552A>G (p.Asp851Gly)
|
rs886041045
|
|
NM_003070.5(SMARCA2):c.2648C>A (p.Pro883Gln)
|
rs281875188
|
|
NM_003070.5(SMARCA2):c.2736G>T (p.Trp912Cys)
|
|
|
NM_003070.5(SMARCA2):c.2786A>T (p.Glu929Val)
|
rs1586692481
|
|
NM_003070.5(SMARCA2):c.2809C>T (p.Arg937Cys)
|
rs1586692548
|
|
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His)
|
rs1586692551
|
|
NM_003070.5(SMARCA2):c.2810G>T (p.Arg937Leu)
|
rs1586692551
|
|
NM_003070.5(SMARCA2):c.2831C>A (p.Pro944Gln)
|
|
|
NM_003070.5(SMARCA2):c.2966C>G (p.Thr989Arg)
|
|
|
NM_003070.5(SMARCA2):c.3314G>C (p.Arg1105Pro)
|
rs281875197
|
|
NM_003070.5(SMARCA2):c.3441C>A (p.Asp1147Glu)
|
|
|
NM_003070.5(SMARCA2):c.3457-2A>T
|
rs1823192606
|
|
NM_003070.5(SMARCA2):c.3482A>G (p.His1161Arg)
|
rs863224921
|
|
NM_003070.5(SMARCA2):c.3484C>T (p.Arg1162Cys)
|
rs1057518414
|
|
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His)
|
rs281875186
|
|
NM_003070.5(SMARCA2):c.3493C>A (p.Gln1165Lys)
|
rs797045976
|
|
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr)
|
rs281875196
|
|
NM_003070.5(SMARCA2):c.3587A>C (p.Gln1196Pro)
|
rs1586721515
|
|
NM_003070.5(SMARCA2):c.3599A>C (p.Gln1200Pro)
|
rs1823198138
|
|
NM_003070.5(SMARCA2):c.3602C>T (p.Ala1201Val)
|
rs281875189
|
|
NM_003070.5(SMARCA2):c.3623C>G (p.Ser1208Cys)
|
rs1823200345
|
|
NM_003070.5(SMARCA2):c.3962C>T (p.Thr1321Met)
|
rs2130626814
|
|
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)
|
rs2086534839
|
|
NM_003072.5(SMARCA4):c.1352G>T (p.Arg451Leu)
|
|
|
NM_003072.5(SMARCA4):c.1427T>G (p.Leu476Arg)
|
rs2145937134
|
|
NM_003072.5(SMARCA4):c.1429A>G (p.Asn477Asp)
|
rs2086880392
|
|
NM_003072.5(SMARCA4):c.1462G>A (p.Glu488Lys)
|
rs2145938426
|
|
NM_003072.5(SMARCA4):c.1646G>T (p.Arg549Leu)
|
rs2145970607
|
|
NM_003072.5(SMARCA4):c.1947_2001+3del
|
|
|
NM_003072.5(SMARCA4):c.2453G>A (p.Trp818Ter)
|
rs2146359668
|
|
NM_003072.5(SMARCA4):c.2506-2A>G
|
|
|
NM_003072.5(SMARCA4):c.2525G>A (p.Arg842Gln)
|
rs2146373452
|
|
NM_003072.5(SMARCA4):c.2647G>A (p.Gly883Ser)
|
rs1568486679
|
|
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)
|
rs281875227
|
|
NM_003072.5(SMARCA4):c.2656A>G (p.Met886Val)
|
rs2146416371
|
|
NM_003072.5(SMARCA4):c.2678T>G (p.Leu893Arg)
|
|
|
NM_003072.5(SMARCA4):c.2704G>A (p.Val902Met)
|
rs1600278307
|
|
NM_003072.5(SMARCA4):c.2738C>T (p.Pro913Leu)
|
rs778175819
|
|
NM_003072.5(SMARCA4):c.2747A>G (p.Asn916Ser)
|
rs2146419846
|
|
NM_003072.5(SMARCA4):c.2777A>G (p.Asn926Ser)
|
rs1555778797
|
|
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg)
|
rs1060499936
|
|
NM_003072.5(SMARCA4):c.2936G>A (p.Arg979Gln)
|
|
|
NM_003072.5(SMARCA4):c.3068A>G (p.Glu1023Gly)
|
|
|
NM_003072.5(SMARCA4):c.3127C>T (p.Arg1043Trp)
|
rs770014321
|
|
NM_003072.5(SMARCA4):c.3139A>C (p.Asn1047His)
|
rs2146497910
|
|
NM_003072.5(SMARCA4):c.3476G>C (p.Gly1159Ala)
|
rs2146600868
|
|
NM_003072.5(SMARCA4):c.3557C>T (p.Ala1186Val)
|
rs1600388982
|
|
NM_003072.5(SMARCA4):c.3608G>A (p.Arg1203His)
|
rs770680174
|
|
NM_003072.5(SMARCA4):c.3712T>G (p.Ser1238Ala)
|
|
|
NM_003072.5(SMARCA4):c.3730C>T (p.Arg1244Cys)
|
rs2146654092
|
|
NM_003072.5(SMARCA4):c.3734C>G (p.Ala1245Gly)
|
rs797045984
|
|
NM_003072.5(SMARCA4):c.3818A>G (p.His1273Arg)
|
rs1600393629
|
|
NM_003072.5(SMARCA4):c.4213C>T (p.Arg1405Trp)
|
rs1057518049
|
|
NM_003073.5(SMARCB1):c.1070C>G (p.Thr357Arg)
|
rs1555881567
|
|
NM_003073.5(SMARCB1):c.1084_1086del (p.Glu362del)
|
rs2146042583
|
|
NM_003073.5(SMARCB1):c.1087A>G (p.Lys363Glu)
|
rs797045989
|
|
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)
|
rs1568963037
|
|
NM_003073.5(SMARCB1):c.1096C>G (p.Arg366Gly)
|
rs886039520
|
|
NM_003073.5(SMARCB1):c.1096C>T (p.Arg366Cys)
|
rs886039520
|
|
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His)
|
rs398122368
|
|
NM_003073.5(SMARCB1):c.1120C>T (p.Arg374Trp)
|
rs1568963596
|
|
NM_003073.5(SMARCB1):c.1121G>A (p.Arg374Gln)
|
rs1057517825
|
|
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp)
|
rs1601405064
|
|
NM_003073.5(SMARCB1):c.602G>A (p.Arg201Gln)
|
rs1555877287
|
|
NM_003073.5(SMARCB1):c.812G>A (p.Gly271Glu)
|
rs2030318562
|
|
NM_003074.4(SMARCC1):c.1242_1243dup (p.Thr415fs)
|
rs1576412227
|
|
NM_003074.4(SMARCC1):c.1577A>C (p.His526Pro)
|
rs1576408057
|
|
NM_003074.4(SMARCC1):c.1589_1590insAGTGGGGACTC (p.Gln531fs)
|
rs1576408050
|
|
NM_003074.4(SMARCC1):c.2672del (p.Lys891fs)
|
rs1576390243
|
|
NM_003074.4(SMARCC1):c.535A>T (p.Lys179Ter)
|
rs1576426439
|
|
NM_003079.5(SMARCE1):c.276G>C (p.Lys92Asn)
|
rs1555605795
|
|
NM_003091.4(SNRPB):c.560-1G>T
|
rs2085044676
|
|
NM_003107.3(SOX4):c.176T>G (p.Ile59Ser)
|
rs1582601669
|
|
NM_003107.3(SOX4):c.198C>A (p.Phe66Leu)
|
rs1334099693
|
|
NM_003107.3(SOX4):c.315G>T (p.Lys105Asn)
|
rs1582601747
|
|
NM_003107.3(SOX4):c.334G>C (p.Ala112Pro)
|
rs1464282327
|
|
NM_003108.4(SOX11):c.1148del (p.Gly383fs)
|
|
|
NM_003108.4(SOX11):c.1216del (p.Ser406fs)
|
rs1572217107
|
|
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
|
|
|
NM_003108.4(SOX11):c.146T>G (p.Ile49Ser)
|
|
|
NM_003108.4(SOX11):c.151C>G (p.Arg51Gly)
|
|
|
NM_003108.4(SOX11):c.151C>T (p.Arg51Trp)
|
rs2103276324
|
|
NM_003108.4(SOX11):c.152G>A (p.Arg51Gln)
|
rs2103276330
|
|
NM_003108.4(SOX11):c.152G>T (p.Arg51Leu)
|
|
|
NM_003108.4(SOX11):c.155C>T (p.Pro52Leu)
|
|
|
NM_003108.4(SOX11):c.157A>G (p.Met53Val)
|
|
|
NM_003108.4(SOX11):c.158T>G (p.Met53Arg)
|
|
|
NM_003108.4(SOX11):c.159G>A (p.Met53Ile)
|
|
|
NM_003108.4(SOX11):c.159G>T (p.Met53Ile)
|
|
|
NM_003108.4(SOX11):c.160A>G (p.Asn54Asp)
|
|
|
NM_003108.4(SOX11):c.167T>G (p.Phe56Cys)
|
rs2103276337
|
|
NM_003108.4(SOX11):c.168C>G (p.Phe56Leu)
|
rs2103276338
|
|
NM_003108.4(SOX11):c.170T>C (p.Met57Thr)
|
rs2103276340
|
|
NM_003108.4(SOX11):c.190C>A (p.Arg64Ser)
|
|
|
NM_003108.4(SOX11):c.190C>T (p.Arg64Cys)
|
|
|
NM_003108.4(SOX11):c.191G>C (p.Arg64Pro)
|
|
|
NM_003108.4(SOX11):c.191G>T (p.Arg64Leu)
|
|
|
NM_003108.4(SOX11):c.223C>G (p.His75Asp)
|
|
|
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp)
|
rs1665660543
|
|
NM_003108.4(SOX11):c.239C>T (p.Ser80Phe)
|
rs1553327809
|
|
NM_003108.4(SOX11):c.250G>A (p.Gly84Ser)
|
|
|
NM_003108.4(SOX11):c.259T>C (p.Trp87Arg)
|
|
|
NM_003108.4(SOX11):c.293del (p.Phe98fs)
|
rs1558373252
|
|
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro)
|
rs1064794628
|
|
NM_003108.4(SOX11):c.305C>T (p.Ala102Val)
|
rs1665661372
|
|
NM_003108.4(SOX11):c.317G>C (p.Arg106Pro)
|
|
|
NM_003108.4(SOX11):c.322A>G (p.Lys108Glu)
|
|
|
NM_003108.4(SOX11):c.326A>C (p.His109Pro)
|
|
|
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
|
|
|
NM_003108.4(SOX11):c.353A>G (p.Tyr118Cys)
|
|
|
NM_003108.4(SOX11):c.359C>A (p.Pro120His)
|
|
|
NM_003108.4(SOX11):c.359C>T (p.Pro120Leu)
|
rs1665662335
|
|
NM_003108.4(SOX11):c.650_651insGA (p.Lys218fs)
|
rs2103276750
|
|
NM_003108.4(SOX11):c.657C>A (p.Cys219Ter)
|
|
|
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter)
|
rs780122780
|
|
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
|
|
|
NM_003108.4(SOX11):c.886G>T (p.Glu296Ter)
|
rs1441654871
|
|
NM_003119.4(SPG7):c.1990_1992del (p.Gln664del)
|
rs1597665063
|
|
NM_003159.2(CDKL5):c.-253_-163+?del
|
|
|
NM_003165.6(STXBP1):c.1809G>T (p.Glu603Asp)
|
rs2131543392
|
|
NM_003179.3(SYP):c.615+2T>C
|
|
|
NM_003274.5(TRAPPC10):c.2786C>T (p.Pro929Leu)
|
rs2038452898
|
|
NM_003336.4(UBE2A):c.242-3_244del
|
rs2053456972
|
|
NM_003336.4(UBE2A):c.299ATG[1] (p.Asp101del)
|
rs2053457413
|
|
NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del)
|
rs1603308066
|
|
NM_003336.4(UBE2A):c.330+1G>A
|
rs2053457643
|
|
NM_003336.4(UBE2A):c.330+1del
|
|
|
NM_003336.4(UBE2A):c.373del (p.Gln125fs)
|
rs1556244406
|
|
NM_003336.4(UBE2A):c.421_422del (p.Val141fs)
|
rs2147382084
|
|
NM_003336.4(UBE2A):c.439C>T (p.Gln147Ter)
|
|
|
NM_003365.3(UQCRC1):c.359T>C (p.Leu120Pro)
|
|
|
NM_003383.5(VLDLR):c.1962+1G>A
|
rs2130801524
|
|
NM_003383.5(VLDLR):c.1962+2T>C
|
rs1563764078
|
|
NM_003383.5(VLDLR):c.2144G>A (p.Cys715Tyr)
|
|
|
NM_003383.5(VLDLR):c.2252-2A>C
|
|
|
NM_003383.5(VLDLR):c.2465G>A (p.Trp822Ter)
|
rs2130810631
|
|
NM_003383.5(VLDLR):c.262dup (p.Arg88fs)
|
rs2130785730
|
|
NM_003383.5(VLDLR):c.2T>C (p.Met1Thr)
|
rs797046092
|
|
NM_003383.5(VLDLR):c.325+1G>A
|
|
|
NM_003383.5(VLDLR):c.325+1del
|
|
|
NM_003383.5(VLDLR):c.376C>T (p.Gln126Ter)
|
|
|
NM_003384.2(VRK1):c.318_889+1945del
|
|
|
NM_003384.3(VRK1):c.1066A>T (p.Lys356Ter)
|
rs1223645705
|
|
NM_003384.3(VRK1):c.1069-2A>G
|
|
|
NM_003384.3(VRK1):c.1094del (p.Ser365fs)
|
rs2139845854
|
|
NM_003384.3(VRK1):c.1113_1117del (p.Glu371fs)
|
rs2139845924
|
|
NM_003384.3(VRK1):c.156_160+3del
|
rs1566696845
|
|
NM_003384.3(VRK1):c.160+1G>T
|
rs2139749072
|
|
NM_003384.3(VRK1):c.161-2A>G
|
|
|
NM_003384.3(VRK1):c.216+1G>A
|
|
|
NM_003384.3(VRK1):c.236C>T (p.Pro79Leu)
|
rs2139779062
|
|
NM_003384.3(VRK1):c.287-2A>C
|
|
|
NM_003384.3(VRK1):c.374+1G>T
|
|
|
NM_003384.3(VRK1):c.402_890-895del
|
|
|
NM_003384.3(VRK1):c.483+1G>A
|
|
|
NM_003384.3(VRK1):c.576+1G>A
|
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.710-1G>A
|
|
|
NM_003384.3(VRK1):c.788A>G (p.Asp263Gly)
|
rs1428656431
|
|
NM_003384.3(VRK1):c.812T>C (p.Val271Ala)
|
rs2139804166
|
|
NM_003384.3(VRK1):c.830+1G>C
|
|
|
NM_003384.3(VRK1):c.889+1G>A
|
rs1482696609
|
|
NM_003384.3(VRK1):c.976C>T (p.Gln326Ter)
|
rs1566713184
|
|
NM_003470.3(USP7):c.1225_1243del (p.Phe409fs)
|
rs2141185978
|
|
NM_003477.3(PDHX):c.1012dup (p.Val338fs)
|
|
|
NM_003477.3(PDHX):c.134G>A (p.Trp45Ter)
|
rs1064796807
|
|
NM_003477.3(PDHX):c.557del (p.Pro186fs)
|
|
|
NM_003477.3(PDHX):c.70C>T (p.Arg24Ter)
|
|
|
NM_003477.3(PDHX):c.791C>G (p.Ser264Ter)
|
|
|
NM_003477.3(PDHX):c.793dup (p.Thr265fs)
|
rs1057518180
|
|
NM_003482.4(KMT2D):c.1769dup (p.Met590fs)
|
rs1565819425
|
|
NM_003491.4(NAA10):c.*39A>G
|
rs1603289774
|
|
NM_003491.4(NAA10):c.*40A>G
|
rs1342269961
|
|
NM_003491.4(NAA10):c.*43A>G
|
rs1603289772
|
|
NM_003491.4(NAA10):c.115C>A (p.Pro39Thr)
|
rs1603290816
|
|
NM_003491.4(NAA10):c.116C>T (p.Pro39Leu)
|
rs1557107942
|
|
NM_003491.4(NAA10):c.128A>G (p.Tyr43Cys)
|
|
|
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr)
|
rs1057519448
|
|
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys)
|
rs1057524031
|
|
NM_003491.4(NAA10):c.248G>A (p.Arg83His)
|
rs1603290366
|
|
NM_003491.4(NAA10):c.259G>T (p.Ala87Ser)
|
rs1557107543
|
|
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
|
|
|
NM_003491.4(NAA10):c.347G>A (p.Arg116Gln)
|
rs2065169655
|
|
NM_003491.4(NAA10):c.361C>G (p.Leu121Val)
|
rs1557107462
|
|
NM_003491.4(NAA10):c.377T>G (p.Leu126Arg)
|
rs1603290291
|
|
NM_003491.4(NAA10):c.382T>A (p.Phe128Ile)
|
|
|
NM_003533.3(H3C11):c.82A>G (p.Lys28Glu)
|
rs1057519905
|
|
NM_003533.3(H3C11):c.83A>T (p.Lys28Met)
|
rs1057519904
|
|
NM_003587.5(DHX16):c.1280G>A (p.Gly427Glu)
|
rs1582953009
|
|
NM_003587.5(DHX16):c.2021C>T (p.Thr674Met)
|
rs1582931908
|
|
NM_003588.4(CUL4B):c.2493G>A (p.Thr831=)
|
rs2147321510
|
|
NM_003590.5(CUL3):c.743_744dup (p.Met249Ter)
|
rs1692824104
|
|
NM_003601.4(SMARCA5):c.934A>G (p.Arg312Gly)
|
|
|
NM_003619.4(PRSS12):c.1501A>T (p.Arg501Ter)
|
|
|
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs)
|
rs760638778
|
|
NM_003620.4(PPM1D):c.1221_1222insTC (p.Val408fs)
|
rs2143719799
|
|
NM_003620.4(PPM1D):c.1224dup (p.Met409fs)
|
|
|
NM_003620.4(PPM1D):c.1237_1238del (p.Pro413fs)
|
rs1555648565
|
|
NM_003620.4(PPM1D):c.1244dup (p.Thr416fs)
|
rs2143719857
|
|
NM_003620.4(PPM1D):c.1249_1250insA (p.Pro417fs)
|
|
|
NM_003620.4(PPM1D):c.1277del (p.Pro426fs)
|
rs1555649009
|
|
NM_003620.4(PPM1D):c.1349T>G (p.Leu450Ter)
|
|
|
NM_003620.4(PPM1D):c.1372C>T (p.Arg458Ter)
|
|
|
NM_003620.4(PPM1D):c.1384C>T (p.Gln462Ter)
|
|
|
NM_003620.4(PPM1D):c.1412del (p.Pro471fs)
|
rs780195897
|
|
NM_003620.4(PPM1D):c.1434C>A (p.Cys478Ter)
|
|
|
NM_003620.4(PPM1D):c.1606del (p.Arg536fs)
|
rs2031564242
|
|
NM_003630.3(PEX3):c.144C>A (p.Tyr48Ter)
|
|
|
NM_003630.3(PEX3):c.331+1G>C
|
|
|
NM_003630.3(PEX3):c.412G>A (p.Gly138Arg)
|
rs1562654527
|
|
NM_003630.3(PEX3):c.685G>T (p.Gly229Ter)
|
|
|
NM_003630.3(PEX3):c.844A>C (p.Thr282Pro)
|
rs1473197986
|
|
NM_003640.5(ELP1):c.1461-1G>T
|
rs539544212
|
|
NM_003640.5(ELP1):c.1854+1G>A
|
rs1554696934
|
|
NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs)
|
rs1341613149
|
|
NM_003640.5(ELP1):c.304-2A>G
|
rs757972943
|
|
NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs)
|
rs769748960
|
|
NM_003640.5(ELP1):c.3790C>T (p.Gln1264Ter)
|
rs1827767235
|
|
NM_003640.5(ELP1):c.3831_3834del (p.Tyr1278fs)
|
rs1446325480
|
|
NM_003640.5(ELP1):c.641del (p.Pro214fs)
|
rs759412460
|
|
NM_003659.4(AGPS):c.1037_1043del (p.Glu346fs)
|
rs2105675391
|
|
NM_003659.4(AGPS):c.1256G>A (p.Arg419His)
|
rs121434411
|
|
NM_003659.4(AGPS):c.1536dup (p.Tyr513fs)
|
|
|
NM_003659.4(AGPS):c.1546-84_1591dup
|
|
|
NM_003659.4(AGPS):c.1557_1564del (p.Glu520fs)
|
|
|
NM_003659.4(AGPS):c.1608-1G>A
|
|
|
NM_003659.4(AGPS):c.1658_1659del (p.Lys553fs)
|
|
|
NM_003659.4(AGPS):c.288G>A (p.Trp96Ter)
|
|
|
NM_003659.4(AGPS):c.301dup (p.Ser101fs)
|
|
|
NM_003659.4(AGPS):c.544C>T (p.Arg182Ter)
|
rs1686426425
|
|
NM_003659.4(AGPS):c.557_562+5del
|
|
|
NM_003659.4(AGPS):c.562+1G>A
|
|
|
NM_003659.4(AGPS):c.595G>T (p.Glu199Ter)
|
|
|
NM_003659.4(AGPS):c.610C>T (p.Arg204Ter)
|
|
|
NM_003659.4(AGPS):c.637+2T>A
|
|
|
NM_003659.4(AGPS):c.710-2A>G
|
|
|
NM_003659.4(AGPS):c.918_919del (p.Glu306fs)
|
|
|
NM_003659.4(AGPS):c.926C>T (p.Thr309Ile)
|
rs121434412
|
|
NM_003690.5(PRKRA):c.610-1_610insGAATGCTGCTGAGAAATTTCTTGCCAAATTTAGTAATATTTCTCCAGAGAACCACATTTCTTTA
|
rs775832077
|
|
NM_003705.5(SLC25A12):c.1490T>A (p.Ile497Asn)
|
rs2105837590
|
|
NM_003705.5(SLC25A12):c.1618G>A (p.Asp540Asn)
|
rs1553469156
|
|
NM_003705.5(SLC25A12):c.225del (p.Glu76fs)
|
rs1685036155
|
|
NM_003705.5(SLC25A12):c.326-2A>C
|
rs1573977142
|
|
NM_003705.5(SLC25A12):c.410T>C (p.Phe137Ser)
|
rs2105895501
|
|
NM_003719.5(PDE8B):c.1276C>T (p.Arg426Ter)
|
|
|
NM_003754.3(EIF3F):c.671C>T (p.Pro224Leu)
|
rs1185010700
|
|
NM_003793.4(CTSF):c.105_129del (p.Ser36fs)
|
|
|
NM_003793.4(CTSF):c.130del (p.Arg44fs)
|
rs1857984449
|
|
NM_003793.4(CTSF):c.167_186del (p.Ala56fs)
|
|
|
NM_003793.4(CTSF):c.264del (p.Cys89fs)
|
|
|
NM_003793.4(CTSF):c.530_531+11del
|
rs2134954887
|
|
NM_003793.4(CTSF):c.965-1G>A
|
|
|
NM_003793.4(CTSF):c.993_1004delinsTGCCTACT (p.Lys331fs)
|
rs2134951897
|
|
NM_003797.5(EED):c.767T>C (p.Met256Thr)
|
|
|
NM_003805.5(CRADD):c.285dup (p.Asp96fs)
|
rs1555213545
|
|
NM_003846.3(PEX11B):c.124C>T (p.Gln42Ter)
|
|
|
NM_003846.3(PEX11B):c.275del (p.Asn92fs)
|
|
|
NM_003865.3(HESX1):c.158-1G>C
|
rs1238248024
|
|
NM_003865.3(HESX1):c.349C>T (p.Gln117Ter)
|
|
|
NM_003865.3(HESX1):c.3G>A (p.Met1Ile)
|
rs2107566038
|
|
NM_003896.4(ST3GAL5):c.740G>A (p.Gly247Asp)
|
rs1573589807
|
|
NM_003931.3(WASF1):c.136A>T (p.Lys46Ter)
|
rs778229060
|
|
NM_003977.2(AIP):c.(?_1)_(*_?)del
|
|
|
NM_003977.2(AIP):c.-1212_279+578del
|
|
|
NM_003977.3(AIP):c.74_81delTCCCGGACins7
|
|
|
NM_003977.3(AIP):c.[-125-145_-125-144delCGinsAA];[-125-95G>A]
|
|
|
NM_003977.3(AIP):c.[878_879delAGinsGT];[880_891delCTGGACCCAGCC]
|
|
|
NM_003977.4(AIP):c.100-1025_279+357del
|
|
|
NM_003977.4(AIP):c.301_423del (p.Val101_Leu141del)
|
|
|
NM_003977.4(AIP):c.3G>A (p.Met1Ile)
|
rs886037871
|
|
NM_003977.4(AIP):c.504_510del (p.Pro167_Trp168insTer)
|
|
|
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter)
|
rs121908356
|
|
NM_003977.4(AIP):c.844dup (p.Gln282fs)
|
|
|
NM_003977.4(AIP):c.919dup (p.Arg307fs)
|
rs267606589
|
|
NM_003995.4(NPR2):c.1032T>G (p.Tyr344Ter)
|
rs1588057922
|
|
NM_003995.4(NPR2):c.2266C>T (p.Gln756Ter)
|
rs1828368702
|
|
NM_003995.4(NPR2):c.2794C>T (p.Arg932Cys)
|
rs760285654
|
|
NM_003995.4(NPR2):c.2966G>A (p.Arg989Gln)
|
rs771373457
|
|
NM_003995.4(NPR2):c.2966G>T (p.Arg989Leu)
|
rs771373457
|
|
NM_004035.7(ACOX1):c.110-2A>G
|
rs2144330766
|
|
NM_004035.7(ACOX1):c.1299-1G>T
|
|
|
NM_004035.7(ACOX1):c.1311_1312del (p.Ser438fs)
|
rs747192384
|
|
NM_004035.7(ACOX1):c.1312del (p.Ser438fs)
|
rs747192384
|
|
NM_004035.7(ACOX1):c.139del (p.Gln47fs)
|
rs1567892272
|
|
NM_004035.7(ACOX1):c.1453G>T (p.Glu485Ter)
|
|
|
NM_004035.7(ACOX1):c.1478+1G>A
|
rs2144237287
|
|
NM_004035.7(ACOX1):c.1603del (p.Val534_Val535insTer)
|
|
|
NM_004035.7(ACOX1):c.1704_1707del (p.Ser568fs)
|
rs1332660959
|
|
NM_004035.7(ACOX1):c.1717del (p.Asp573fs)
|
rs1292759098
|
|
NM_004035.7(ACOX1):c.1729-2A>G
|
|
|
NM_004035.7(ACOX1):c.1729-2del
|
|
|
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)
|
|
|
NM_004035.7(ACOX1):c.1813dup (p.Ala605fs)
|
|
|
NM_004035.7(ACOX1):c.1851del (p.Gly618fs)
|
rs797045080
|
|
NM_004035.7(ACOX1):c.250G>T (p.Glu84Ter)
|
|
|
NM_004035.7(ACOX1):c.420_421del (p.Glu140fs)
|
|
|
NM_004035.7(ACOX1):c.498_499del (p.Asn166fs)
|
|
|
NM_004035.7(ACOX1):c.539-2A>G
|
|
|
NM_004035.7(ACOX1):c.541G>A (p.Gly181Arg)
|
|
|
NM_004035.7(ACOX1):c.629G>A (p.Arg210His)
|
|
|
NM_004035.7(ACOX1):c.679_774+103del
|
|
|
NM_004035.7(ACOX1):c.795C>A (p.Tyr265Ter)
|
|
|
NM_004035.7(ACOX1):c.846_856dup (p.Val286fs)
|
|
|
NM_004035.7(ACOX1):c.928T>C (p.Ser310Pro)
|
|
|
NM_004035.7(ACOX1):c.944+1G>T
|
|
|
NM_004035.7(ACOX1):c.945-1G>C
|
rs2144242585
|
|
NM_004056.6(CA8):c.100+1G>A
|
rs1563390893
|
|
NM_004056.6(CA8):c.475A>T (p.Lys159Ter)
|
rs79267946
|
|
NM_004056.6(CA8):c.730dup (p.Gln244fs)
|
rs1807291595
|
|
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp)
|
rs1577059692
|
|
NM_004082.5(DCTN1):c.279G>C (p.Gln93His)
|
|
|
NM_004113.6(FGF12):c.148G>A (p.Gly50Ser)
|
rs1553798675
|
|
NM_004113.6(FGF12):c.155G>A (p.Arg52His)
|
rs886039903
|
|
NM_004113.6(FGF12):c.341G>A (p.Gly114Glu)
|
|
|
NM_004114.5(FGF13):c.14T>G (p.Ile5Ser)
|
rs2124253547
|
|
NM_004114.5(FGF13):c.5C>G (p.Ala2Gly)
|
|
|
NM_004115.4(FGF14):c.194-1G>C
|
|
|
NM_004115.4(FGF14):c.408+1G>A
|
|
|
NM_004115.4(FGF14):c.486dup (p.Arg163fs)
|
rs1566823361
|
|
NM_004171.4(SLC1A2):c.1625A>G (p.His542Arg)
|
|
|
NM_004171.4(SLC1A2):c.689T>C (p.Ile230Thr)
|
|
|
NM_004171.4(SLC1A2):c.746del (p.Phe249fs)
|
|
|
NM_004171.4(SLC1A2):c.827T>G (p.Ile276Ser)
|
|
|
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg)
|
rs781379291
|
|
NM_004171.4(SLC1A2):c.872G>T (p.Gly291Val)
|
|
|
NM_004187.5(KDM5C):c.100del (p.Ile34fs)
|
|
|
NM_004187.5(KDM5C):c.1204G>A (p.Asp402Asn)
|
|
|
NM_004187.5(KDM5C):c.1439C>T (p.Pro480Leu)
|
rs1057518697
|
|
NM_004187.5(KDM5C):c.1447del (p.Glu483fs)
|
|
|
NM_004187.5(KDM5C):c.1549dup (p.Asp517fs)
|
rs2146915836
|
|
NM_004187.5(KDM5C):c.1602G>C (p.Trp534Cys)
|
rs2146914735
|
|
NM_004187.5(KDM5C):c.1606G>A (p.Gly536Arg)
|
rs2073528836
|
|
NM_004187.5(KDM5C):c.1613C>T (p.Pro538Leu)
|
rs587780372
|
|
NM_004187.5(KDM5C):c.1747G>T (p.Val583Phe)
|
rs1602183890
|
|
NM_004187.5(KDM5C):c.1793C>G (p.Pro598Arg)
|
|
|
NM_004187.5(KDM5C):c.1795C>T (p.Arg599Cys)
|
|
|
NM_004187.5(KDM5C):c.1823G>T (p.Gly608Val)
|
rs2073151214
|
|
NM_004187.5(KDM5C):c.1843G>T (p.Val615Phe)
|
rs2146868023
|
|
NM_004187.5(KDM5C):c.1862A>G (p.Asp621Gly)
|
rs2146867887
|
|
NM_004187.5(KDM5C):c.1866G>T (p.Trp622Cys)
|
rs1602183619
|
|
NM_004187.5(KDM5C):c.208C>T (p.Gln70Ter)
|
rs2146961698
|
|
NM_004187.5(KDM5C):c.2243+1G>T
|
rs2073058023
|
|
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp)
|
rs2146851322
|
|
NM_004187.5(KDM5C):c.255C>G (p.Tyr85Ter)
|
rs1602231587
|
|
NM_004187.5(KDM5C):c.3208C>T (p.Gln1070Ter)
|
|
|
NM_004187.5(KDM5C):c.3332_3335del (p.Asp1111fs)
|
rs1934728804
|
|
NM_004187.5(KDM5C):c.3412C>T (p.Gln1138Ter)
|
rs1934722562
|
|
NM_004187.5(KDM5C):c.3656T>G (p.Leu1219Arg)
|
|
|
NM_004187.5(KDM5C):c.3845_3846del (p.Thr1282fs)
|
|
|
NM_004187.5(KDM5C):c.4118-2A>G
|
rs2146815883
|
|
NM_004187.5(KDM5C):c.589dup (p.Leu197fs)
|
rs1602228596
|
|
NM_004187.5(KDM5C):c.593G>A (p.Arg198Gln)
|
|
|
NM_004187.5(KDM5C):c.709C>T (p.Gln237Ter)
|
rs1602226289
|
|
NM_004187.5(KDM5C):c.807del (p.Thr270fs)
|
rs1569278313
|
|
NM_004204.5(PIGQ):c.1327_1335+2del
|
rs2151047692
|
|
NM_004204.5(PIGQ):c.1345G>C (p.Gly449Arg)
|
rs1361495767
|
|
NM_004204.5(PIGQ):c.1531+1G>A
|
|
|
NM_004204.5(PIGQ):c.241del (p.Leu81fs)
|
rs2151044300
|
|
NM_004214.5(FIBP):c.652C>T (p.Gln218Ter)
|
rs786204849
|
|
NM_004287.4(GOSR2):c.[336+1G>A];[430G>T]
|
|
|
NM_004287.5(GOSR2):c.204-1G>T
|
rs1187190721
|
|
NM_004287.5(GOSR2):c.337-2A>G
|
rs1568177307
|
|
NM_004287.5(GOSR2):c.95-1G>C
|
rs1186314496
|
|
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala)
|
rs113994088
|
|
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro)
|
rs113994089
|
|
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln)
|
rs113994087
|
|
NM_004321.8(KIF1A):c.935C>A (p.Thr312Asn)
|
rs779049732
|
|
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)
|
rs180177041
|
|
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1780G>C (p.Asp594His)
|
rs397516896
|
|
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)
|
rs121913338
|
|
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)
|
rs113488022
|
|
NM_004341.5(CAD):c.1843-3C>T
|
rs1057519262
|
|
NM_004341.5(CAD):c.3721del (p.Val1241fs)
|
rs2148080342
|
|
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)
|
|
|
NM_004380.3(CREBBP):c.1574-2A>G
|
rs2141248421
|
|
NM_004380.3(CREBBP):c.1801C>T (p.Arg601Trp)
|
rs1354934373
|
|
NM_004380.3(CREBBP):c.1823T>C (p.Leu608Pro)
|
rs2053254528
|
|
NM_004380.3(CREBBP):c.1824-1G>C
|
|
|
NM_004380.3(CREBBP):c.189del (p.Ala64fs)
|
|
|
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro)
|
rs2141237064
|
|
NM_004380.3(CREBBP):c.2031del (p.Ile678fs)
|
rs1555483716
|
|
NM_004380.3(CREBBP):c.2113+1G>C
|
|
|
NM_004380.3(CREBBP):c.2283+1G>T
|
|
|
NM_004380.3(CREBBP):c.2464-1G>A
|
rs2052993075
|
|
NM_004380.3(CREBBP):c.3248_3250+4del
|
|
|
NM_004380.3(CREBBP):c.3270dup (p.Arg1091fs)
|
|
|
NM_004380.3(CREBBP):c.3370-2A>G
|
rs866703165
|
|
NM_004380.3(CREBBP):c.3418del (p.Arg1140fs)
|
rs2151383848
|
|
NM_004380.3(CREBBP):c.3490G>C (p.Ala1164Pro)
|
rs797045492
|
|
NM_004380.3(CREBBP):c.3495_3575del (p.Trp1165_Val1192delinsCys)
|
rs1596853925
|
|
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys)
|
rs587783481
|
|
NM_004380.3(CREBBP):c.3504_3527del (p.Asn1168_Tyr1175del)
|
|
|
NM_004380.3(CREBBP):c.3512C>G (p.Thr1171Arg)
|
|
|
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys)
|
rs28937315
|
|
NM_004380.3(CREBBP):c.3535A>G (p.Ser1179Gly)
|
rs1596854023
|
|
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs)
|
rs2052611239
|
|
NM_004380.3(CREBBP):c.3698G>A (p.Arg1233Lys)
|
rs1057518844
|
|
NM_004380.3(CREBBP):c.3719G>A (p.Cys1240Tyr)
|
rs1596839714
|
|
NM_004380.3(CREBBP):c.3779+1G>C
|
rs587783483
|
|
NM_004380.3(CREBBP):c.37A>G (p.Lys13Glu)
|
rs587783484
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.3832G>C (p.Glu1278Gln)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.3914+3G>T
|
rs587783485
|
|
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter)
|
rs2151354104
|
|
NM_004380.3(CREBBP):c.3982+3A>T
|
rs1596823180
|
|
NM_004380.3(CREBBP):c.3983-1G>C
|
rs2151341377
|
|
NM_004380.3(CREBBP):c.4022G>C (p.Arg1341Pro)
|
rs587783488
|
|
NM_004380.3(CREBBP):c.4040G>C (p.Arg1347Pro)
|
rs1596813665
|
|
NM_004380.3(CREBBP):c.4067_4071del (p.Glu1356fs)
|
|
|
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro)
|
rs121434626
|
|
NM_004380.3(CREBBP):c.4134-1G>T
|
rs886041048
|
|
NM_004380.3(CREBBP):c.4145C>T (p.Ser1382Phe)
|
rs149877180
|
|
NM_004380.3(CREBBP):c.4175G>T (p.Arg1392Leu)
|
rs1596812290
|
|
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)
|
rs2052153254
|
|
NM_004380.3(CREBBP):c.4226T>C (p.Phe1409Ser)
|
rs587783492
|
|
NM_004380.3(CREBBP):c.4262G>T (p.Cys1421Phe)
|
rs200616542
|
|
NM_004380.3(CREBBP):c.4277C>G (p.Thr1426Arg)
|
rs145988918
|
|
NM_004380.3(CREBBP):c.4281-11C>G
|
rs587783493
|
|
NM_004380.3(CREBBP):c.4281G>T (p.Arg1427Ser)
|
rs797045494
|
|
NM_004380.3(CREBBP):c.4283G>C (p.Arg1428Pro)
|
rs778448390
|
|
NM_004380.3(CREBBP):c.4297T>C (p.Tyr1433His)
|
rs1596810435
|
|
NM_004380.3(CREBBP):c.4303G>T (p.Asp1435Tyr)
|
rs1596810419
|
|
NM_004380.3(CREBBP):c.4305T>G (p.Asp1435Glu)
|
rs928061320
|
|
NM_004380.3(CREBBP):c.4336C>G (p.Arg1446Gly)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)
|
rs398124146
|
|
NM_004380.3(CREBBP):c.4337G>A (p.Arg1446His)
|
rs1057519884
|
|
NM_004380.3(CREBBP):c.4337G>T (p.Arg1446Leu)
|
rs1057519884
|
|
NM_004380.3(CREBBP):c.4376A>G (p.Glu1459Gly)
|
rs587783494
|
|
NM_004380.3(CREBBP):c.4395-2A>C
|
rs2151330226
|
|
NM_004380.3(CREBBP):c.4417G>A (p.Ala1473Thr)
|
rs1596805927
|
|
NM_004380.3(CREBBP):c.4436_4438del (p.Gly1479del)
|
rs1555473122
|
|
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)
|
rs886041286
|
|
NM_004380.3(CREBBP):c.4445A>G (p.Tyr1482Cys)
|
rs587783496
|
|
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr)
|
rs1057519207
|
|
NM_004380.3(CREBBP):c.4460A>G (p.His1487Arg)
|
rs1596805792
|
|
NM_004380.3(CREBBP):c.4613C>T (p.Pro1538Leu)
|
rs1596804126
|
|
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)
|
|
|
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)
|
rs1555471931
|
|
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His)
|
rs1596791996
|
|
NM_004380.3(CREBBP):c.4991G>T (p.Arg1664Leu)
|
rs1596791996
|
|
NM_004380.3(CREBBP):c.5036CCT[1] (p.Ser1680del)
|
rs587783502
|
|
NM_004380.3(CREBBP):c.5050T>C (p.Ser1684Pro)
|
rs587783503
|
|
NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro)
|
rs61731407
|
|
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe)
|
rs2151316542
|
|
NM_004380.3(CREBBP):c.5158T>C (p.Cys1720Arg)
|
rs2051906390
|
|
NM_004380.3(CREBBP):c.5186G>A (p.Cys1729Tyr)
|
rs2051863859
|
|
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser)
|
rs2051863859
|
|
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val)
|
rs869312714
|
|
NM_004380.3(CREBBP):c.5357G>A (p.Arg1786His)
|
rs988251457
|
|
NM_004380.3(CREBBP):c.5412C>A (p.His1804Gln)
|
rs797045496
|
|
NM_004380.3(CREBBP):c.5482_5484del (p.Tyr1828del)
|
rs1596787459
|
|
NM_004380.3(CREBBP):c.5561A>C (p.Gln1854Pro)
|
rs2051852330
|
|
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)
|
rs1131691326
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr)
|
rs879255381
|
|
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs)
|
rs2151306905
|
|
NM_004380.3(CREBBP):c.6130_6171del (p.Ala2044_Gln2057del)
|
rs587783511
|
|
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)
|
|
|
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter)
|
rs886041518
|
|
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter)
|
rs2051825168
|
|
NM_004380.3(CREBBP):c.6275C>G (p.Ser2092Ter)
|
rs1555471077
|
|
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter)
|
rs199821421
|
|
NM_004380.3(CREBBP):c.6388C>T (p.Gln2130Ter)
|
rs2151304304
|
|
NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa)
|
rs1555470631
|
|
NM_004380.3(CREBBP):c.85+1G>A
|
rs1597099388
|
|
NM_004380.3(CREBBP):c.859_860inv (p.Pro287Gly)
|
|
|
NM_004408.4(DNM1):c.1076G>A (p.Gly359Glu)
|
|
|
NM_004408.4(DNM1):c.1076G>C (p.Gly359Ala)
|
rs587777862
|
|
NM_004408.4(DNM1):c.1081C>G (p.Arg361Gly)
|
rs1835085971
|
|
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser)
|
rs1554767313
|
|
NM_004408.4(DNM1):c.128G>A (p.Gly43Asp)
|
rs1833622746
|
|
NM_004408.4(DNM1):c.1335+1638G>A
|
rs747079285
|
|
NM_004408.4(DNM1):c.1343A>C (p.Gln448Pro)
|
|
|
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn)
|
rs1554767317
|
|
NM_004408.4(DNM1):c.139G>A (p.Val47Met)
|
rs869312702
|
|
NM_004408.4(DNM1):c.1615A>G (p.Lys539Glu)
|
rs1554781553
|
|
NM_004408.4(DNM1):c.1726G>A (p.Glu576Lys)
|
rs2131283599
|
|
NM_004408.4(DNM1):c.1943T>C (p.Met648Thr)
|
|
|
NM_004408.4(DNM1):c.2045C>G (p.Pro682Arg)
|
|
|
NM_004408.4(DNM1):c.236-2A>C
|
|
|
NM_004408.4(DNM1):c.2369del (p.Pro790fs)
|
|
|
NM_004408.4(DNM1):c.415G>A (p.Gly139Arg)
|
rs1564328617
|
|
NM_004408.4(DNM1):c.415_423del (p.Gly139_Thr141del)
|
|
|
NM_004408.4(DNM1):c.431C>T (p.Pro144Leu)
|
rs1588352395
|
|
NM_004408.4(DNM1):c.442C>A (p.Gln148Lys)
|
rs1554772945
|
|
NM_004408.4(DNM1):c.443A>G (p.Gln148Arg)
|
rs1554772959
|
|
NM_004408.4(DNM1):c.465_467dup (p.Gln155_Ile156insMet)
|
rs1057518655
|
|
NM_004408.4(DNM1):c.532A>T (p.Asn178Tyr)
|
rs1834792032
|
|
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg)
|
rs1057524561
|
|
NM_004408.4(DNM1):c.632A>T (p.Asp211Val)
|
|
|
NM_004426.3(PHC1):c.2974C>T (p.Leu992Phe)
|
rs587777036
|
|
NM_004483.5(GCSH):c.425-1G>T
|
rs386833859
|
|
NM_004519.4(KCNQ3):c.1045-1G>T
|
rs1826416962
|
|
NM_004519.4(KCNQ3):c.104_105del (p.Ala35fs)
|
rs1822523749
|
|
NM_004519.4(KCNQ3):c.1066G>A (p.Ala356Thr)
|
rs2130121430
|
|
NM_004519.4(KCNQ3):c.1120C>G (p.Pro374Ala)
|
|
|
NM_004519.4(KCNQ3):c.1123G>A (p.Ala375Thr)
|
rs2130121106
|
|
NM_004519.4(KCNQ3):c.1262+1G>T
|
|
|
NM_004519.4(KCNQ3):c.38GCG[5] (p.Gly16dup)
|
rs981093917
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
|
|
|
NM_004519.4(KCNQ3):c.777+1G>T
|
|
|
NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser)
|
rs1554627439
|
|
NM_004519.4(KCNQ3):c.929G>A (p.Gly310Asp)
|
rs118192250
|
|
NM_004519.4(KCNQ3):c.951T>G (p.Ile317Met)
|
rs2130128566
|
|
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys)
|
rs118192251
|
|
NM_004521.3(KIF5B):c.2252A>G (p.His751Arg)
|
rs1114167297
|
|
NM_004522.3(KIF5C):c.710A>G (p.Glu237Gly)
|
|
|
NM_004535.3(MYT1):c.790G>C (p.Glu264Gln)
|
rs1983540456
|
|
NM_004562.3(PRKN):c.1301T>C (p.Met434Thr)
|
rs1582953433
|
|
NM_004562.3(PRKN):c.220_221dup (p.Trp74fs)
|
rs746646126
|
|
NM_004562.3(PRKN):c.73C>T (p.Gln25Ter)
|
rs1440010564
|
|
NM_004565.3(PEX14):c.204_298+125delinsTATTCCTT
|
|
|
NM_004565.3(PEX14):c.298+1G>C
|
|
|
NM_004565.3(PEX14):c.299-5_306del
|
|
|
NM_004565.3(PEX14):c.36+1G>T
|
rs1641167602
|
|
NM_004577.4(PSPH):c.301C>T (p.Arg101Ter)
|
rs1264747554
|
|
NM_004586.3(RPS6KA3):c.1009A>G (p.Arg337Gly)
|
rs2067699201
|
|
NM_004586.3(RPS6KA3):c.1022del (p.His341fs)
|
rs2148664069
|
|
NM_004586.3(RPS6KA3):c.1308C>A (p.Cys436Ter)
|
rs1160828151
|
|
NM_004586.3(RPS6KA3):c.1376A>T (p.Asp459Val)
|
rs2148653302
|
|
NM_004586.3(RPS6KA3):c.1507G>C (p.Asp503His)
|
rs2067475470
|
|
NM_004586.3(RPS6KA3):c.1602+2del
|
rs2148649846
|
|
NM_004586.3(RPS6KA3):c.1603-5A>G
|
rs1569194162
|
|
NM_004586.3(RPS6KA3):c.1762G>C (p.Glu588Gln)
|
rs1555927532
|
|
NM_004586.3(RPS6KA3):c.1823T>G (p.Leu608Arg)
|
rs2067342745
|
|
NM_004586.3(RPS6KA3):c.1960-6_1971del
|
|
|
NM_004586.3(RPS6KA3):c.1964del (p.Leu655fs)
|
rs1555924704
|
|
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)
|
rs2068650679
|
|
NM_004586.3(RPS6KA3):c.2185C>T (p.Arg729Trp)
|
rs1555924331
|
|
NM_004586.3(RPS6KA3):c.2186G>A (p.Arg729Gln)
|
rs28935171
|
|
NM_004586.3(RPS6KA3):c.307AAG[1] (p.Lys104del)
|
rs2148721833
|
|
NM_004586.3(RPS6KA3):c.340C>T (p.Arg114Trp)
|
rs122454127
|
|
NM_004586.3(RPS6KA3):c.406+1G>T
|
|
|
NM_004586.3(RPS6KA3):c.443A>T (p.Asp148Val)
|
rs2148701829
|
|
NM_004586.3(RPS6KA3):c.460G>C (p.Asp154His)
|
rs2148701796
|
|
NM_004586.3(RPS6KA3):c.629C>T (p.Thr210Ile)
|
rs1325953089
|
|
NM_004586.3(RPS6KA3):c.646A>G (p.Lys216Glu)
|
rs1555939456
|
|
NM_004586.3(RPS6KA3):c.646A>T (p.Lys216Ter)
|
rs1555939456
|
|
NM_004586.3(RPS6KA3):c.649G>A (p.Glu217Lys)
|
|
|
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn)
|
rs1603425338
|
|
NM_004586.3(RPS6KA3):c.774+1G>C
|
rs1555939331
|
|
NM_004586.3(RPS6KA3):c.840_845+3del
|
|
|
NM_004586.3(RPS6KA3):c.958G>T (p.Glu320Ter)
|
rs2067702700
|
|
NM_004595.5(SMS):c.152A>G (p.Tyr51Cys)
|
rs2147508108
|
|
NM_004595.5(SMS):c.328C>G (p.Arg110Gly)
|
rs1924243873
|
|
NM_004595.5(SMS):c.410A>G (p.Asp137Gly)
|
rs1924586809
|
|
NM_004595.5(SMS):c.581T>G (p.Val194Gly)
|
|
|
NM_004595.5(SMS):c.587T>C (p.Ile196Thr)
|
rs1924648986
|
|
NM_004595.5(SMS):c.674T>C (p.Val225Ala)
|
|
|
NM_004595.5(SMS):c.700C>T (p.Arg234Ter)
|
|
|
NM_004595.5(SMS):c.865+2T>C
|
rs2146953457
|
|
NM_004603.4(STX1A):c.435C>G (p.Cys145Trp)
|
rs200456346
|
|
NM_004603.4(STX1A):c.554C>G (p.Ser185Cys)
|
rs2116731315
|
|
NM_004603.4(STX1A):c.668_670del (p.Val223del)
|
rs2116730968
|
|
NM_004603.4(STX1A):c.677A>G (p.Gln226Arg)
|
rs2116730958
|
|
NM_004603.4(STX1A):c.722_724del (p.Val241del)
|
rs2116724168
|
|
NM_004606.5(TAF1):c.1520A>G (p.Asp507Gly)
|
rs1602481623
|
|
NM_004606.5(TAF1):c.1726C>T (p.Pro576Ser)
|
rs864321630
|
|
NM_004606.5(TAF1):c.1979G>A (p.Gly660Asp)
|
rs1602489684
|
|
NM_004606.5(TAF1):c.1A>T (p.Met1Leu)
|
rs2148106783
|
|
NM_004606.5(TAF1):c.2120G>A (p.Arg707Gln)
|
rs1602490113
|
|
NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg)
|
rs864321628
|
|
NM_004606.5(TAF1):c.2414G>A (p.Arg805Gln)
|
|
|
NM_004606.5(TAF1):c.2530C>T (p.Arg844Trp)
|
rs2034364118
|
|
NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys)
|
rs1602506017
|
|
NM_004606.5(TAF1):c.2714G>A (p.Gly905Asp)
|
rs2034442612
|
|
NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe)
|
rs1057518019
|
|
NM_004606.5(TAF1):c.2975C>T (p.Thr992Ile)
|
rs1602520317
|
|
NM_004606.5(TAF1):c.3184C>T (p.Arg1062Cys)
|
rs2034677583
|
|
NM_004606.5(TAF1):c.3407-1G>A
|
|
|
NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys)
|
rs1569301036
|
|
NM_004606.5(TAF1):c.3648A>G (p.Gln1216=)
|
rs2034990430
|
|
NM_004606.5(TAF1):c.3700C>T (p.Arg1234Trp)
|
rs1602538353
|
|
NM_004606.5(TAF1):c.3973G>A (p.Val1325Ile)
|
rs1131691982
|
|
NM_004606.5(TAF1):c.4226C>T (p.Pro1409Leu)
|
rs1555980523
|
|
NM_004606.5(TAF1):c.4286A>C (p.Gln1429Pro)
|
rs2148488146
|
|
NM_004606.5(TAF1):c.4382A>T (p.Asn1461Ile)
|
rs1602572645
|
|
NM_004606.5(TAF1):c.4394A>G (p.His1465Arg)
|
rs1064793874
|
|
NM_004606.5(TAF1):c.4520C>T (p.Ala1507Val)
|
rs1602624950
|
|
NM_004606.5(TAF1):c.4748A>G (p.Tyr1583Cys)
|
rs2148612232
|
|
NM_004606.5(TAF1):c.715G>A (p.Val239Met)
|
rs2033574124
|
|
NM_004674.5(ASH2L):c.1726A>G (p.Ile576Val)
|
rs1060499744
|
|
NM_004699.4(FAM50A):c.764A>G (p.Asp255Gly)
|
rs2068797192
|
|
NM_004813.4(PEX16):c.112+2T>G
|
rs1590798080
|
|
NM_004813.4(PEX16):c.149-2A>G
|
|
|
NM_004813.4(PEX16):c.226-2A>C
|
|
|
NM_004813.4(PEX16):c.359+1G>A
|
|
|
NM_004813.4(PEX16):c.460+5G>A
|
rs2134695257
|
|
NM_004813.4(PEX16):c.679C>G (p.Arg227Gly)
|
|
|
NM_004813.4(PEX16):c.694+1G>A
|
rs2134692847
|
|
NM_004813.4(PEX16):c.887+2T>G
|
rs2134691627
|
|
NM_004813.4(PEX16):c.888-1G>C
|
|
|
NM_004813.4(PEX16):c.888-2A>C
|
rs2086772786
|
|
NM_004813.4(PEX16):c.995_997del (p.Phe332del)
|
rs797045062
|
|
NM_004830.4(MED23):c.1181C>T (p.Pro394Leu)
|
rs1775982467
|
|
NM_004830.4(MED23):c.2368_2371del (p.Leu790fs)
|
rs760262127
|
|
NM_004830.4(MED23):c.479T>C (p.Leu160Pro)
|
rs786205583
|
|
NM_004830.4(MED23):c.953del (p.Glu318fs)
|
rs1776174152
|
|
NM_004855.5(PIGB):c.795-1G>C
|
rs1163732372
|
|
NM_004859.4(CLTC):c.111del (p.Phe37fs)
|
rs2143496899
|
|
NM_004859.4(CLTC):c.1745C>T (p.Thr582Met)
|
|
|
NM_004859.4(CLTC):c.1824T>G (p.Tyr608Ter)
|
|
|
NM_004859.4(CLTC):c.2096_2099del (p.Ile699fs)
|
|
|
NM_004859.4(CLTC):c.2562-1G>C
|
|
|
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu)
|
|
|
NM_004859.4(CLTC):c.3239C>A (p.Ser1080Ter)
|
rs2143591718
|
|
NM_004859.4(CLTC):c.3493C>T (p.Arg1165Ter)
|
|
|
NM_004859.4(CLTC):c.3611del (p.Arg1204fs)
|
|
|
NM_004859.4(CLTC):c.3647TGT[1] (p.Leu1217del)
|
|
|
NM_004859.4(CLTC):c.3805G>C (p.Ala1269Pro)
|
|
|
NM_004859.4(CLTC):c.3905_3911del (p.Met1302fs)
|
|
|
NM_004859.4(CLTC):c.4411_4413del (p.Phe1471del)
|
|
|
NM_004859.4(CLTC):c.4602_4603dup (p.Lys1535fs)
|
|
|
NM_004859.4(CLTC):c.4722C>G (p.Tyr1574Ter)
|
rs367867382
|
|
NM_004879.5(EI24):c.742C>T (p.Pro248Ser)
|
rs1938981293
|
|
NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser)
|
rs2100609915
|
|
NM_004973.4(JARID2):c.12_13del (p.Arg5fs)
|
rs2127277880
|
|
NM_004973.4(JARID2):c.348G>T (p.Lys116Asn)
|
|
|
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile)
|
rs1553181282
|
|
NM_004974.4(KCNA2):c.1130A>G (p.Tyr377Cys)
|
|
|
NM_004974.4(KCNA2):c.1195G>A (p.Val399Met)
|
rs1064794738
|
|
NM_004974.4(KCNA2):c.1210T>A (p.Leu404Ile)
|
rs2101396443
|
|
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
|
|
|
NM_004974.4(KCNA2):c.1216G>T (p.Val406Phe)
|
rs1553181257
|
|
NM_004974.4(KCNA2):c.1219C>T (p.Pro407Ser)
|
rs1557731896
|
|
NM_004974.4(KCNA2):c.1220C>T (p.Pro407Leu)
|
|
|
NM_004974.4(KCNA2):c.1223T>G (p.Val408Gly)
|
rs1570752696
|
|
NM_004974.4(KCNA2):c.1265_1266del (p.Glu422fs)
|
rs1064796294
|
|
NM_004974.4(KCNA2):c.196del (p.Arg65_Met66insTer)
|
rs2101403658
|
|
NM_004974.4(KCNA2):c.298C>T (p.Arg100Ter)
|
rs1649509389
|
|
NM_004974.4(KCNA2):c.585dup (p.His196fs)
|
|
|
NM_004974.4(KCNA2):c.785C>T (p.Ala262Val)
|
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
NM_004974.4(KCNA2):c.881G>C (p.Arg294Pro)
|
|
|
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)
|
rs786205232
|
|
NM_004974.4(KCNA2):c.900A>T (p.Arg300Ser)
|
rs2101398595
|
|
NM_004974.4(KCNA2):c.906T>G (p.Phe302Leu)
|
rs764822052
|
|
NM_004974.4(KCNA2):c.929A>G (p.His310Arg)
|
rs1649470988
|
|
NM_004974.4(KCNA2):c.959C>T (p.Thr320Ile)
|
rs1553181323
|
|
NM_004974.4(KCNA2):c.988C>T (p.Leu330Phe)
|
|
|
NM_004975.4(KCNB1):c.1001T>C (p.Leu334Pro)
|
rs1555889108
|
|
NM_004975.4(KCNB1):c.1088del (p.Ser363fs)
|
rs1555889103
|
|
NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu)
|
|
|
NM_004975.4(KCNB1):c.1115C>A (p.Thr372Asn)
|
rs1569017160
|
|
NM_004975.4(KCNB1):c.1133T>G (p.Val378Gly)
|
|
|
NM_004975.4(KCNB1):c.1136G>A (p.Gly379Glu)
|
rs1984249721
|
|
NM_004975.4(KCNB1):c.1145A>T (p.Asp382Val)
|
rs1984248540
|
|
NM_004975.4(KCNB1):c.1152C>A (p.Tyr384Ter)
|
|
|
NM_004975.4(KCNB1):c.1153C>A (p.Pro385Thr)
|
rs1060499592
|
|
NM_004975.4(KCNB1):c.1181G>A (p.Gly394Glu)
|
|
|
NM_004975.4(KCNB1):c.1183G>A (p.Gly395Arg)
|
rs959316981
|
|
NM_004975.4(KCNB1):c.1190G>A (p.Cys397Tyr)
|
rs1555889084
|
|
NM_004975.4(KCNB1):c.1190G>T (p.Cys397Phe)
|
rs1555889084
|
|
NM_004975.4(KCNB1):c.1202G>C (p.Gly401Ala)
|
|
|
NM_004975.4(KCNB1):c.1217C>T (p.Ala406Val)
|
rs1601071099
|
|
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro)
|
rs2146813611
|
|
NM_004975.4(KCNB1):c.1222C>T (p.Pro408Ser)
|
rs1601071085
|
|
NM_004975.4(KCNB1):c.1226T>C (p.Ile409Thr)
|
rs1569017025
|
|
NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)
|
rs1984243311
|
|
NM_004975.4(KCNB1):c.1297C>T (p.Arg433Ter)
|
rs1064794764
|
|
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro)
|
rs2146813509
|
|
NM_004975.4(KCNB1):c.1463G>A (p.Trp488Ter)
|
rs1984233764
|
|
NM_004975.4(KCNB1):c.1489G>T (p.Glu497Ter)
|
rs1569016820
|
|
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter)
|
rs781663444
|
|
NM_004975.4(KCNB1):c.1769G>A (p.Ser590Asn)
|
rs2146812849
|
|
NM_004975.4(KCNB1):c.587T>G (p.Ile196Ser)
|
|
|
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe)
|
rs1601072041
|
|
NM_004975.4(KCNB1):c.623T>G (p.Leu208Arg)
|
|
|
NM_004975.4(KCNB1):c.627C>A (p.Asn209Lys)
|
rs1984276555
|
|
NM_004975.4(KCNB1):c.628A>G (p.Thr210Ala)
|
rs2146814335
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg)
|
rs1601071839
|
|
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser)
|
rs1601071747
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
NM_004975.4(KCNB1):c.908G>A (p.Arg303Gln)
|
rs1057518621
|
|
NM_004975.4(KCNB1):c.917G>A (p.Arg306His)
|
rs1984262011
|
|
NM_004975.4(KCNB1):c.919A>G (p.Ile307Val)
|
rs1984261678
|
|
NM_004975.4(KCNB1):c.934C>T (p.Arg312Cys)
|
|
|
NM_004975.4(KCNB1):c.935G>A (p.Arg312His)
|
rs1555889127
|
|
NM_004975.4(KCNB1):c.935G>C (p.Arg312Pro)
|
|
|
NM_004975.4(KCNB1):c.956C>A (p.Ser319Tyr)
|
rs1984259606
|
|
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe)
|
rs1984259606
|
|
NM_004975.4(KCNB1):c.973C>T (p.Arg325Trp)
|
rs1276378675
|
|
NM_004992.3(MECP2):c.27-8916_1212del
|
|
|
NM_005027.4(PIK3R2):c.1056C>G (p.Phe352Leu)
|
rs1568636630
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005027.4(PIK3R2):c.1681A>G (p.Asn561Asp)
|
rs1057519801
|
|
NM_005027.4(PIK3R2):c.988T>G (p.Trp330Gly)
|
rs2043757489
|
|
NM_005045.4(RELN):c.2002+1G>A
|
|
|
NM_005045.4(RELN):c.2303+1G>A
|
rs2117350995
|
|
NM_005045.4(RELN):c.2303+2T>G
|
|
|
NM_005045.4(RELN):c.2465+2T>G
|
|
|
NM_005045.4(RELN):c.3463dup (p.Leu1155fs)
|
rs1831540987
|
|
NM_005045.4(RELN):c.473+1G>A
|
|
|
NM_005045.4(RELN):c.4936+1G>T
|
|
|
NM_005045.4(RELN):c.5615-2A>G
|
rs2117168257
|
|
NM_005045.4(RELN):c.6068_6072+20del
|
|
|
NM_005045.4(RELN):c.6314del (p.Phe2105fs)
|
rs1830269249
|
|
NM_005045.4(RELN):c.7180+1G>T
|
rs2117126444
|
|
NM_005045.4(RELN):c.805+1G>T
|
|
|
NM_005045.4(RELN):c.8843+2T>C
|
|
|
NM_005045.4(RELN):c.9444-1G>A
|
rs1828624396
|
|
NM_005048.4(PTH2R):c.473C>T (p.Ser158Phe)
|
rs1553546045
|
|
NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)
|
rs1172486173
|
|
NM_005076.5(CNTN2):c.1240+1G>A
|
rs113709347
|
|
NM_005076.5(CNTN2):c.1695+2T>C
|
rs763392794
|
|
NM_005076.5(CNTN2):c.1696-2A>G
|
|
|
NM_005076.5(CNTN2):c.2126-1G>C
|
rs2151198133
|
|
NM_005076.5(CNTN2):c.2197-2A>G
|
|
|
NM_005076.5(CNTN2):c.2544+1G>T
|
|
|
NM_005076.5(CNTN2):c.2731+1G>A
|
rs1202358073
|
|
NM_005087.4(FXR1):c.1772T>A (p.Ile591Asn)
|
rs754901294
|
|
NM_005097.4(LGI1):c.1095del (p.Asn365fs)
|
rs2134026453
|
|
NM_005097.4(LGI1):c.1418C>T (p.Ser473Leu)
|
rs797044999
|
|
NM_005097.4(LGI1):c.1421G>A (p.Arg474Gln)
|
rs1064794249
|
|
NM_005097.4(LGI1):c.1580_1581del (p.His527fs)
|
rs1364913665
|
|
NM_005097.4(LGI1):c.187del (p.Arg63fs)
|
|
|
NM_005097.4(LGI1):c.215+2T>A
|
rs2059586444
|
|
NM_005097.4(LGI1):c.287+1G>A
|
rs2059593242
|
|
NM_005097.4(LGI1):c.4G>T (p.Glu2Ter)
|
rs2059583625
|
|
NM_005097.4(LGI1):c.504-1G>T
|
rs1564851314
|
|
NM_005097.4(LGI1):c.504-9_505del
|
rs2134020777
|
|
NM_005097.4(LGI1):c.682_683del (p.Lys228fs)
|
|
|
NM_005097.4(LGI1):c.701_702dup (p.Gln235fs)
|
|
|
NM_005120.3(MED12):c.100-2A>T
|
|
|
NM_005120.3(MED12):c.1248+3A>G
|
rs2147782173
|
|
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys)
|
rs1569481124
|
|
NM_005120.3(MED12):c.1862G>A (p.Arg621Gln)
|
rs1057519381
|
|
NM_005120.3(MED12):c.224G>C (p.Ser75Thr)
|
rs867655376
|
|
NM_005120.3(MED12):c.2546C>T (p.Ser849Phe)
|
|
|
NM_005120.3(MED12):c.3412C>T (p.Arg1138Trp)
|
rs1057523906
|
|
NM_005120.3(MED12):c.3505G>T (p.Ala1169Ser)
|
rs1602299778
|
|
NM_005120.3(MED12):c.3646G>A (p.Val1216Met)
|
rs2147805923
|
|
NM_005120.3(MED12):c.3883C>T (p.Arg1295Cys)
|
rs863223706
|
|
NM_005120.3(MED12):c.4048-1G>A
|
rs2092317530
|
|
NM_005120.3(MED12):c.4147G>A (p.Ala1383Thr)
|
rs863223696
|
|
NM_005120.3(MED12):c.4439C>T (p.Pro1480Leu)
|
|
|
NM_005120.3(MED12):c.4831C>T (p.Arg1611Cys)
|
rs727503868
|
|
NM_005120.3(MED12):c.4832G>A (p.Arg1611His)
|
rs1569482153
|
|
NM_005120.3(MED12):c.4863+1G>A
|
|
|
NM_005120.3(MED12):c.5025+1G>C
|
|
|
NM_005120.3(MED12):c.5400+2T>C
|
rs2147827179
|
|
NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser)
|
rs2092334822
|
|
NM_005120.3(MED12):c.6211del (p.Gln2071fs)
|
|
|
NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg)
|
rs2092347481
|
|
NM_005120.3(MED12):c.6408+1G>A
|
rs2092347488
|
|
NM_005120.3(MED12):c.6439C>A (p.Gln2147Lys)
|
rs863223699
|
|
NM_005120.3(MED12):c.887G>A (p.Arg296Gln)
|
rs1556334519
|
|
NM_005121.3(MED13):c.1036dup (p.Val346fs)
|
rs2143672313
|
|
NM_005121.3(MED13):c.1968-1G>A
|
rs2080338119
|
|
NM_005121.3(MED13):c.2503C>T (p.Pro835Ser)
|
|
|
NM_005121.3(MED13):c.3786_3787insAA (p.Pro1263fs)
|
|
|
NM_005121.3(MED13):c.3902C>G (p.Pro1301Arg)
|
rs2143410400
|
|
NM_005121.3(MED13):c.413_414dup (p.Ile139fs)
|
|
|
NM_005121.3(MED13):c.4225C>T (p.Arg1409Ter)
|
|
|
NM_005121.3(MED13):c.4802C>A (p.Ser1601Ter)
|
|
|
NM_005141.4(FGB):c.130C>T (p.Arg44Cys)
|
rs121909616
|
|
NM_005215.4(DCC):c.617A>T (p.Asp206Val)
|
|
|
NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter)
|
rs730882242
|
|
NM_005228.5(EGFR):c.1793G>C (p.Gly598Ala)
|
rs139236063
|
|
NM_005228.5(EGFR):c.1793G>T (p.Gly598Val)
|
rs139236063
|
|
NM_005228.5(EGFR):c.322A>G (p.Arg108Gly)
|
rs1057519888
|
|
NM_005228.5(EGFR):c.323G>A (p.Arg108Lys)
|
rs1057519828
|
|
NM_005228.5(EGFR):c.787A>C (p.Thr263Pro)
|
rs1057519829
|
|
NM_005228.5(EGFR):c.865G>A (p.Ala289Thr)
|
rs769696078
|
|
NM_005228.5(EGFR):c.865_866delinsAA (p.Ala289Asn)
|
rs1057519887
|
|
NM_005228.5(EGFR):c.865_866delinsAT (p.Ala289Ile)
|
rs1057519887
|
|
NM_005228.5(EGFR):c.866C>A (p.Ala289Asp)
|
rs149840192
|
|
NM_005228.5(EGFR):c.866C>T (p.Ala289Val)
|
rs149840192
|
|
NM_005249.5(FOXG1):c.1011_1015dup (p.Met339fs)
|
rs1881815891
|
|
NM_005249.5(FOXG1):c.1020del (p.Tyr341fs)
|
rs2138661880
|
|
NM_005249.5(FOXG1):c.1222A>T (p.Asn408Tyr)
|
rs1594384249
|
|
NM_005249.5(FOXG1):c.156_160del (p.His52fs)
|
rs1881779084
|
|
NM_005249.5(FOXG1):c.233_234insA (p.Pro79fs)
|
|
|
NM_005249.5(FOXG1):c.233_234insAA (p.Pro79fs)
|
rs2138660420
|
|
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)
|
rs398124202
|
|
NM_005249.5(FOXG1):c.298C>T (p.Gln100Ter)
|
|
|
NM_005249.5(FOXG1):c.324_339dup (p.Ala114fs)
|
rs2138660628
|
|
NM_005249.5(FOXG1):c.336_345del (p.Ala113fs)
|
|
|
NM_005249.5(FOXG1):c.339del (p.Ala114fs)
|
|
|
NM_005249.5(FOXG1):c.515_577del (p.Gly172_Met192del)
|
rs2138661060
|
|
NM_005249.5(FOXG1):c.515dup (p.Glu173fs)
|
rs2138661058
|
|
NM_005249.5(FOXG1):c.543G>T (p.Lys181Asn)
|
rs767961672
|
|
NM_005249.5(FOXG1):c.545C>T (p.Pro182Leu)
|
rs796052461
|
|
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys)
|
rs879255530
|
|
NM_005249.5(FOXG1):c.554G>T (p.Ser185Ile)
|
rs1057516138
|
|
NM_005249.5(FOXG1):c.563C>A (p.Ala188Glu)
|
rs587783638
|
|
NM_005249.5(FOXG1):c.563C>G (p.Ala188Gly)
|
rs587783638
|
|
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val)
|
rs1555321308
|
|
NM_005249.5(FOXG1):c.568A>T (p.Ile190Phe)
|
|
|
NM_005249.5(FOXG1):c.572T>G (p.Met191Arg)
|
rs2138661161
|
|
NM_005249.5(FOXG1):c.573G>A (p.Met191Ile)
|
rs1555321311
|
|
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr)
|
rs786205005
|
|
NM_005249.5(FOXG1):c.578C>A (p.Ala193Asp)
|
rs2138661170
|
|
NM_005249.5(FOXG1):c.578C>T (p.Ala193Val)
|
|
|
NM_005249.5(FOXG1):c.581T>C (p.Ile194Thr)
|
|
|
NM_005249.5(FOXG1):c.581T>G (p.Ile194Ser)
|
rs2138661171
|
|
NM_005249.5(FOXG1):c.602G>C (p.Arg201Pro)
|
rs2138661213
|
|
NM_005249.5(FOXG1):c.609_613dup (p.Asn205fs)
|
|
|
NM_005249.5(FOXG1):c.619A>T (p.Ile207Phe)
|
rs2138661244
|
|
NM_005249.5(FOXG1):c.620T>C (p.Ile207Thr)
|
rs1881803464
|
|
NM_005249.5(FOXG1):c.635T>C (p.Met212Thr)
|
rs2138661267
|
|
NM_005249.5(FOXG1):c.643T>A (p.Phe215Ile)
|
|
|
NM_005249.5(FOXG1):c.643T>C (p.Phe215Leu)
|
rs267606828
|
|
NM_005249.5(FOXG1):c.644_645delinsCT (p.Phe215Ser)
|
rs786204998
|
|
NM_005249.5(FOXG1):c.653A>G (p.Tyr218Cys)
|
rs1881804364
|
|
NM_005249.5(FOXG1):c.670G>A (p.Gly224Ser)
|
rs727503935
|
|
NM_005249.5(FOXG1):c.673T>G (p.Trp225Gly)
|
|
|
NM_005249.5(FOXG1):c.680A>G (p.Asn227Ser)
|
|
|
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys)
|
rs786205012
|
|
NM_005249.5(FOXG1):c.683C>G (p.Ser228Cys)
|
|
|
NM_005249.5(FOXG1):c.685A>C (p.Ile229Leu)
|
rs1064797186
|
|
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys)
|
rs1594383704
|
|
NM_005249.5(FOXG1):c.689G>T (p.Arg230Leu)
|
rs786205007
|
|
NM_005249.5(FOXG1):c.694A>G (p.Asn232Asp)
|
rs786205486
|
|
NM_005249.5(FOXG1):c.701C>T (p.Ser234Phe)
|
rs1555321334
|
|
NM_005249.5(FOXG1):c.703C>T (p.Leu235Phe)
|
rs1566445489
|
|
NM_005249.5(FOXG1):c.713G>A (p.Cys238Tyr)
|
rs1555321337
|
|
NM_005249.5(FOXG1):c.755G>A (p.Gly252Asp)
|
rs587783640
|
|
NM_005249.5(FOXG1):c.755G>T (p.Gly252Val)
|
rs587783640
|
|
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp)
|
rs587783641
|
|
NM_005249.5(FOXG1):c.759C>A (p.Asn253Lys)
|
rs767873754
|
|
NM_005249.5(FOXG1):c.763T>A (p.Trp255Arg)
|
|
|
NM_005249.5(FOXG1):c.764G>A (p.Trp255Ter)
|
rs1555321351
|
|
NM_005249.5(FOXG1):c.770T>C (p.Leu257Pro)
|
rs1555321353
|
|
NM_005249.5(FOXG1):c.799G>A (p.Gly267Ser)
|
rs587783643
|
|
NM_005249.5(FOXG1):c.800G>A (p.Gly267Asp)
|
|
|
NM_005249.5(FOXG1):c.803del (p.Gly268fs)
|
|
|
NM_005249.5(FOXG1):c.811G>A (p.Gly271Ser)
|
rs1881809272
|
|
NM_005249.5(FOXG1):c.812G>A (p.Gly271Asp)
|
rs796052469
|
|
NM_005249.5(FOXG1):c.824G>C (p.Arg275Pro)
|
rs1555321361
|
|
NM_005249.5(FOXG1):c.844dup (p.Ala282fs)
|
rs2138661638
|
|
NM_005249.5(FOXG1):c.847A>T (p.Lys283Ter)
|
|
|
NM_005249.5(FOXG1):c.974_975del (p.Thr324_Leu325insTer)
|
|
|
NM_005313.5(PDIA3):c.170G>A (p.Cys57Tyr)
|
rs1555455456
|
|
NM_005324.5(H3-3B):c.155T>A (p.Ile52Asn)
|
rs2143630846
|
|
NM_005324.5(H3-3B):c.23C>T (p.Ala8Val)
|
rs1555585522
|
|
NM_005324.5(H3-3B):c.25C>T (p.Arg9Cys)
|
rs2061653458
|
|
NM_005324.5(H3-3B):c.28A>G (p.Lys10Glu)
|
rs2143631415
|
|
NM_005324.5(H3-3B):c.410_411del (p.Ter137CysextTer?)
|
rs2143629918
|
|
NM_005324.5(H3-3B):c.68C>A (p.Thr23Lys)
|
rs2143631320
|
|
NM_005334.3(HCFC1):c.5705G>A (p.Ser1902Asn)
|
|
|
NM_005359.6(SMAD4):c.50_51del (p.Leu17fs)
|
|
|
NM_005359.6(SMAD4):c.875del (p.Pro292fs)
|
|
|
NM_005378.6(MYCN):c.131C>T (p.Pro44Leu)
|
rs1057519919
|
|
NM_005402.4(RALA):c.73G>A (p.Val25Met)
|
rs1554297905
|
|
NM_005441.3(CHAF1B):c.496A>G (p.Ile166Val)
|
rs140630794
|
|
NM_005445.4(SMC3):c.1942A>G (p.Met648Val)
|
rs886041239
|
|
NM_005445.4(SMC3):c.2413C>T (p.Arg805Cys)
|
rs760111391
|
|
NM_005458.8(GABBR2):c.2072A>G (p.Tyr691Cys)
|
|
|
NM_005458.8(GABBR2):c.2084G>A (p.Ser695Asn)
|
rs1554689319
|
|
NM_005458.8(GABBR2):c.2106G>A (p.Met702Ile)
|
rs1830549152
|
|
NM_005458.8(GABBR2):c.2119G>A (p.Ala707Thr)
|
rs1554689313
|
|
NM_005458.8(GABBR2):c.72_73insACCATGGTTCAGCCACATCTGTCACTTGCCAGTATTGGTACGCATTAAAGTAACTGGTCTGAAACGTTCTATCCAAGAACGCTTGAACTTCCAAGTTACTAATGAAGTAATTCAAC (p.Leu25delinsThrMetValGlnProHisLeuSerLeuAlaSerIleGlyThrHisTer)
|
|
|
NM_005465.7(AKT3):c.1330A>G (p.Ile444Val)
|
rs1574509510
|
|
NM_005465.7(AKT3):c.230T>A (p.Leu77His)
|
rs2147921662
|
|
NM_005465.7(AKT3):c.237G>C (p.Trp79Cys)
|
rs2147921624
|
|
NM_005465.7(AKT3):c.548T>A (p.Val183Asp)
|
rs886041100
|
|
NM_005465.7(AKT3):c.685A>C (p.Asn229His)
|
rs530590989
|
|
NM_005465.7(AKT3):c.803T>C (p.Val268Ala)
|
rs1674673024
|
|
NM_005465.7(AKT3):c.964G>T (p.Asp322Tyr)
|
rs1064795602
|
|
NM_005506.4(SCARB2):c.108dup (p.Ile37fs)
|
rs1733108376
|
|
NM_005506.4(SCARB2):c.1113+1G>T
|
rs2109937707
|
|
NM_005506.4(SCARB2):c.1114-2A>G
|
|
|
NM_005506.4(SCARB2):c.1240-2A>G
|
|
|
NM_005506.4(SCARB2):c.235del (p.Glu79fs)
|
rs1732698125
|
|
NM_005506.4(SCARB2):c.424-1G>A
|
rs1732338984
|
|
NM_005506.4(SCARB2):c.995-16_1062delinsG
|
|
|
NM_005536.4(IMPA1):c.817C>T (p.Arg273Ter)
|
rs1308325707
|
|
NM_005629.3:c.1488_1899del
|
|
|
NM_005629.4(SLC6A8):c.1016+2T>C
|
rs1557045066
|
|
NM_005629.4(SLC6A8):c.1016+2_1016+5del
|
rs2148363006
|
|
NM_005629.4(SLC6A8):c.101_102insGC (p.Asp35fs)
|
rs2148358474
|
|
NM_005629.4(SLC6A8):c.1056CTT[1] (p.Phe354del)
|
|
|
NM_005629.4(SLC6A8):c.1076TCT[1] (p.Phe360del)
|
|
|
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
|
|
|
NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu)
|
rs1557045250
|
|
NM_005629.4(SLC6A8):c.1152_1156dup (p.Phe386fs)
|
|
|
NM_005629.4(SLC6A8):c.1171C>T (p.Arg391Trp)
|
rs1557045267
|
|
NM_005629.4(SLC6A8):c.1208C>T (p.Ala403Val)
|
rs1557045296
|
|
NM_005629.4(SLC6A8):c.1210G>C (p.Ala404Pro)
|
|
|
NM_005629.4(SLC6A8):c.1254+1G>A
|
rs1557045333
|
|
NM_005629.4(SLC6A8):c.1255-35_1272del
|
rs2091473708
|
|
NM_005629.4(SLC6A8):c.1317_1321del (p.Arg440fs)
|
|
|
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg)
|
rs1603217473
|
|
NM_005629.4(SLC6A8):c.1421A>G (p.Asp474Gly)
|
|
|
NM_005629.4(SLC6A8):c.1428C>G (p.Tyr476Ter)
|
|
|
NM_005629.4(SLC6A8):c.1513GAC[1] (p.Asp506del)
|
rs2091477188
|
|
NM_005629.4(SLC6A8):c.1548C>A (p.Cys516Ter)
|
|
|
NM_005629.4(SLC6A8):c.1592_1639dup (p.Gly533fs)
|
|
|
NM_005629.4(SLC6A8):c.1612_1613dup (p.Asn538fs)
|
|
|
NM_005629.4(SLC6A8):c.1631C>T (p.Pro544Leu)
|
rs397515558
|
|
NM_005629.4(SLC6A8):c.1681G>C (p.Gly561Arg)
|
|
|
NM_005629.4(SLC6A8):c.1699T>C (p.Ser567Pro)
|
|
|
NM_005629.4(SLC6A8):c.1769G>A (p.Arg590His)
|
|
|
NM_005629.4(SLC6A8):c.191_193del (p.Ser64del)
|
rs2091437670
|
|
NM_005629.4(SLC6A8):c.199G>C (p.Gly67Arg)
|
rs1557043855
|
|
NM_005629.4(SLC6A8):c.229C>A (p.Arg77Ser)
|
|
|
NM_005629.4(SLC6A8):c.263-3_271del
|
|
|
NM_005629.4(SLC6A8):c.342G>C (p.Gln114His)
|
rs2091449037
|
|
NM_005629.4(SLC6A8):c.394+2T>G
|
|
|
NM_005629.4(SLC6A8):c.429C>A (p.Tyr143Ter)
|
|
|
NM_005629.4(SLC6A8):c.507G>A (p.Trp169Ter)
|
|
|
NM_005629.4(SLC6A8):c.527_529del (p.Trp176_Asn177delinsTyr)
|
|
|
NM_005629.4(SLC6A8):c.53_137delinsCCGTGT (p.Lys18fs)
|
rs1557043770
|
|
NM_005629.4(SLC6A8):c.619C>T (p.Arg207Trp)
|
rs1557044461
|
|
NM_005629.4(SLC6A8):c.626C>G (p.Pro209Arg)
|
|
|
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs)
|
rs1603215223
|
|
NM_005629.4(SLC6A8):c.748_749del (p.Val250fs)
|
rs1557044569
|
|
NM_005629.4(SLC6A8):c.82del (p.Asp28fs)
|
|
|
NM_005629.4(SLC6A8):c.912+2T>G
|
rs2091466607
|
|
NM_005629.4(SLC6A8):c.912G>A (p.Gln304=)
|
|
|
NM_005629.4(SLC6A8):c.942_944del (p.Phe315del)
|
rs2091467532
|
|
NM_005629.4(SLC6A8):c.945_949del (p.Phe315fs)
|
rs1603216806
|
|
NM_005629.4(SLC6A8):c.946dup (p.Ser316fs)
|
rs1569539358
|
|
NM_005629.4(SLC6A8):c.97_98del (p.Lys33fs)
|
rs2148358457
|
|
NM_005634.3(SOX3):c.449C>A (p.Ser150Tyr)
|
rs1556518231
|
|
NM_005645.4(TAF13):c.204+1G>T
|
rs2102105455
|
|
NM_005654.6(NR2F1):c.1024G>A (p.Glu342Lys)
|
rs2149946003
|
|
NM_005654.6(NR2F1):c.1065C>G (p.Tyr355Ter)
|
rs763566932
|
|
NM_005654.6(NR2F1):c.1096C>T (p.Arg366Cys)
|
|
|
NM_005654.6(NR2F1):c.1097G>A (p.Arg366His)
|
rs1753373048
|
|
NM_005654.6(NR2F1):c.1115T>C (p.Leu372Pro)
|
rs1554075105
|
|
NM_005654.6(NR2F1):c.1181T>G (p.Val394Gly)
|
rs2149946121
|
|
NM_005654.6(NR2F1):c.1184G>C (p.Gly395Ala)
|
|
|
NM_005654.6(NR2F1):c.1205_1206del (p.Leu402fs)
|
|
|
NM_005654.6(NR2F1):c.208_211del (p.Lys70fs)
|
rs2149941524
|
|
NM_005654.6(NR2F1):c.244C>T (p.Gln82Ter)
|
rs2149941551
|
|
NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg)
|
rs1753210329
|
|
NM_005654.6(NR2F1):c.265T>G (p.Cys89Gly)
|
|
|
NM_005654.6(NR2F1):c.266G>A (p.Cys89Tyr)
|
|
|
NM_005654.6(NR2F1):c.289C>G (p.His97Asp)
|
rs1287146448
|
|
NM_005654.6(NR2F1):c.289C>T (p.His97Tyr)
|
rs1287146448
|
|
NM_005654.6(NR2F1):c.310G>A (p.Glu104Lys)
|
rs2149941603
|
|
NM_005654.6(NR2F1):c.313G>A (p.Gly105Ser)
|
rs1554074677
|
|
NM_005654.6(NR2F1):c.327C>A (p.Phe109Leu)
|
rs1753211889
|
|
NM_005654.6(NR2F1):c.331A>G (p.Lys111Glu)
|
rs2149941611
|
|
NM_005654.6(NR2F1):c.335G>A (p.Arg112Lys)
|
rs587777277
|
|
NM_005654.6(NR2F1):c.339C>A (p.Ser113Arg)
|
rs587777275
|
|
NM_005654.6(NR2F1):c.340G>C (p.Val114Leu)
|
|
|
NM_005654.6(NR2F1):c.344G>C (p.Arg115Pro)
|
rs587777274
|
|
NM_005654.6(NR2F1):c.382T>C (p.Cys128Arg)
|
rs863224903
|
|
NM_005654.6(NR2F1):c.425G>A (p.Arg142His)
|
rs1554074684
|
|
NM_005654.6(NR2F1):c.452T>C (p.Met151Thr)
|
|
|
NM_005654.6(NR2F1):c.453G>A (p.Met151Ile)
|
|
|
NM_005654.6(NR2F1):c.453G>C (p.Met151Ile)
|
rs1580358677
|
|
NM_005654.6(NR2F1):c.463+1G>A
|
rs1753213365
|
|
NM_005654.6(NR2F1):c.497C>T (p.Pro166Leu)
|
rs1753260850
|
|
NM_005654.6(NR2F1):c.729_730delinsCT (p.Gln244Ter)
|
rs1554074850
|
|
NM_005654.6(NR2F1):c.755T>C (p.Leu252Pro)
|
rs587777276
|
|
NM_005654.6(NR2F1):c.90_99del (p.Arg31fs)
|
rs1580358347
|
|
NM_005654.6(NR2F1):c.986_990del (p.Thr329fs)
|
rs1753268855
|
|
NM_005670.4(EPM2A):c.163C>T (p.Gln55Ter)
|
rs187930476
|
|
NM_005670.4(EPM2A):c.179G>A (p.Trp60Ter)
|
|
|
NM_005670.4(EPM2A):c.252C>G (p.Phe84Leu)
|
rs1362231306
|
|
NM_005670.4(EPM2A):c.745G>A (p.Val249Met)
|
rs1387516050
|
|
NM_005670.4(EPM2A):c.758A>T (p.His253Leu)
|
rs749937487
|
|
NM_005670.4(EPM2A):c.759delinsCATGCA (p.Ala254fs)
|
rs1131691331
|
|
NM_005670.4(EPM2A):c.85C>G (p.Leu29Val)
|
rs2128649886
|
|
NM_005685.4(GTF2IRD1):c.973C>T (p.Arg325Cys)
|
rs863223350
|
|
NM_005765.3(ATP6AP2):c.628G>T (p.Asp210Tyr)
|
rs2146543631
|
|
NM_005859.5(PURA):c.159dup (p.Leu54fs)
|
rs1554129040
|
|
NM_005859.5(PURA):c.430A>G (p.Lys144Glu)
|
rs1581036396
|
|
NM_005861.4(STUB1):c.170C>T (p.Pro57Leu)
|
rs2151504167
|
|
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)
|
rs690016544
|
|
NM_005861.4(STUB1):c.207C>G (p.Cys69Trp)
|
|
|
NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)
|
rs779647632
|
|
NM_005861.4(STUB1):c.469C>T (p.Gln157Ter)
|
rs776620952
|
|
NM_005861.4(STUB1):c.525-1G>A
|
rs2151505158
|
|
NM_005861.4(STUB1):c.646dup (p.Ser216fs)
|
rs1555475283
|
|
NM_005861.4(STUB1):c.694_699del (p.Cys232_Gly233del)
|
rs1555475375
|
|
NM_005861.4(STUB1):c.721C>G (p.Arg241Gly)
|
rs760424025
|
|
NM_005861.4(STUB1):c.721C>T (p.Arg241Trp)
|
rs760424025
|
|
NM_005861.4(STUB1):c.760C>G (p.Arg254Gly)
|
rs770730338
|
|
NM_005861.4(STUB1):c.779A>C (p.His260Pro)
|
rs2151506687
|
|
NM_005861.4(STUB1):c.807dup (p.Val270fs)
|
rs2151507049
|
|
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln)
|
rs1376334317
|
|
NM_005862.3(STAG1):c.1129C>T (p.Arg377Cys)
|
rs1559824939
|
|
NM_005862.3(STAG1):c.1716dup (p.Ile573fs)
|
|
|
NM_005862.3(STAG1):c.1962dup (p.Asp655Ter)
|
|
|
NM_005862.3(STAG1):c.2009_2012del (p.Asn670fs)
|
rs1559791842
|
|
NM_005862.3(STAG1):c.2557dup (p.Glu853fs)
|
rs1560062082
|
|
NM_005862.3(STAG1):c.3241C>T (p.Arg1081Ter)
|
|
|
NM_005862.3(STAG1):c.3261del (p.Lys1087fs)
|
rs1553789166
|
|
NM_005862.3(STAG1):c.3691C>T (p.Arg1231Ter)
|
|
|
NM_005862.3(STAG1):c.418C>T (p.Arg140Ter)
|
|
|
NM_005862.3(STAG1):c.513del (p.Gln170_Trp171insTer)
|
rs2107905668
|
|
NM_005862.3(STAG1):c.625G>C (p.Gly209Arg)
|
rs2107905472
|
|
NM_005862.3(STAG1):c.646A>G (p.Arg216Gly)
|
rs1553738686
|
|
NM_005881.4(BCKDK):c.646_649del (p.Asp216fs)
|
rs2057404166
|
|
NM_005883.3(APC2):c.3397C>T (p.Arg1133Ter)
|
|
|
NM_005883.3(APC2):c.759dup (p.Glu254fs)
|
|
|
NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)
|
rs121913499
|
|
NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)
|
rs121913499
|
|
NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)
|
rs121913500
|
|
NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)
|
|
|
NM_005918.4(MDH2):c.755C>T (p.Ala252Val)
|
|
|
NM_005918.4(MDH2):c.884G>T (p.Gly295Val)
|
|
|
NM_005957.5(MTHFR):c.1541_1542del (p.Glu514fs)
|
rs764338697
|
|
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)
|
rs1057517858
|
|
NM_006013.5(RPL10):c.565C>T (p.Arg189Trp)
|
rs1019534975
|
|
NM_006015.6(ARID1A):c.1920+3_1920+6del
|
rs2124792810
|
|
NM_006015.6(ARID1A):c.284del (p.Gly95fs)
|
|
|
NM_006015.6(ARID1A):c.3033G>T (p.Leu1011Phe)
|
rs1553152590
|
|
NM_006015.6(ARID1A):c.3067T>C (p.Trp1023Arg)
|
rs1557612048
|
|
NM_006015.6(ARID1A):c.3067T>G (p.Trp1023Gly)
|
|
|
NM_006015.6(ARID1A):c.3148G>T (p.Asp1050Tyr)
|
rs1570609440
|
|
NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro)
|
rs2124087634
|
|
NM_006015.6(ARID1A):c.3198+2dup
|
|
|
NM_006015.6(ARID1A):c.3230C>A (p.Ala1077Glu)
|
rs1030084592
|
|
NM_006015.6(ARID1A):c.3287A>G (p.Tyr1096Cys)
|
|
|
NM_006015.6(ARID1A):c.3898_3899del (p.Met1300fs)
|
|
|
NM_006015.6(ARID1A):c.4049del (p.Ser1350fs)
|
rs2124114899
|
|
NM_006015.6(ARID1A):c.4102-1G>C
|
rs2081113293
|
|
NM_006015.6(ARID1A):c.4860dup (p.Pro1621fs)
|
rs1553153291
|
|
NM_006015.6(ARID1A):c.5090A>G (p.Asp1697Gly)
|
rs375761808
|
|
NM_006015.6(ARID1A):c.5138T>C (p.Leu1713Pro)
|
rs797045264
|
|
NM_006015.6(ARID1A):c.5903_5904del (p.Cys1968fs)
|
|
|
NM_006015.6(ARID1A):c.595C>T (p.Gln199Ter)
|
rs2124742621
|
|
NM_006015.6(ARID1A):c.5963T>C (p.Ile1988Thr)
|
rs2081174839
|
|
NM_006015.6(ARID1A):c.5965C>G (p.Arg1989Gly)
|
|
|
NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr)
|
rs1570622663
|
|
NM_006015.6(ARID1A):c.6200T>C (p.Ile2067Thr)
|
|
|
NM_006015.6(ARID1A):c.6232G>A (p.Glu2078Lys)
|
rs869312956
|
|
NM_006015.6(ARID1A):c.6518A>T (p.Asn2173Ile)
|
rs1553153783
|
|
NM_006030.4(CACNA2D2):c.1340-2A>G
|
rs2106654236
|
|
NM_006030.4(CACNA2D2):c.1389+2T>C
|
rs1575601202
|
|
NM_006030.4(CACNA2D2):c.1390-1G>C
|
rs2106652662
|
|
NM_006030.4(CACNA2D2):c.1774-2A>G
|
rs2106640384
|
|
NM_006030.4(CACNA2D2):c.1845+1G>T
|
rs1704944478
|
|
NM_006030.4(CACNA2D2):c.2045+1G>A
|
rs2109421369
|
|
NM_006030.4(CACNA2D2):c.206_206+34del
|
rs2107204955
|
|
NM_006030.4(CACNA2D2):c.2234+1G>T
|
|
|
NM_006030.4(CACNA2D2):c.2402-2A>C
|
rs1378156947
|
|
NM_006030.4(CACNA2D2):c.2637+1G>C
|
|
|
NM_006030.4(CACNA2D2):c.466-1G>C
|
rs2106702374
|
|
NM_006030.4(CACNA2D2):c.784+1G>C
|
rs1705277912
|
|
NM_006030.4(CACNA2D2):c.784+2T>G
|
|
|
NM_006030.4(CACNA2D2):c.842+1G>A
|
rs1705258881
|
|
NM_006035.4(CDC42BPB):c.523G>T (p.Asp175Tyr)
|
rs1595127294
|
|
NM_006059.4(LAMC3):c.2479_2480del (p.Leu827fs)
|
rs781432366
|
|
NM_006059.4(LAMC3):c.2819del (p.Pro940fs)
|
rs1170064033
|
|
NM_006059.4(LAMC3):c.3211+2T>C
|
rs2133322852
|
|
NM_006059.4(LAMC3):c.63del (p.Met22fs)
|
|
|
NM_006059.4(LAMC3):c.809+2_809+8del
|
rs775851709
|
|
NM_006059.4(LAMC3):c.903_904del (p.Cys301_Glu302delinsTer)
|
rs761516738
|
|
NM_006086.4(TUBB3):c.1138C>A (p.Arg380Ser)
|
|
|
NM_006086.4(TUBB3):c.1139G>C (p.Arg380Pro)
|
rs777149755
|
|
NM_006086.4(TUBB3):c.136C>T (p.Arg46Trp)
|
rs1555625363
|
|
NM_006086.4(TUBB3):c.178G>T (p.Val60Leu)
|
rs2151092282
|
|
NM_006086.4(TUBB3):c.292G>A (p.Gly98Ser)
|
rs587784505
|
|
NM_006086.4(TUBB3):c.313C>A (p.His105Asn)
|
|
|
NM_006086.4(TUBB3):c.424G>A (p.Gly142Ser)
|
rs1131691895
|
|
NM_006086.4(TUBB3):c.5G>A (p.Arg2Lys)
|
|
|
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu)
|
rs886041459
|
|
NM_006086.4(TUBB3):c.728C>T (p.Pro243Leu)
|
rs587784506
|
|
NM_006086.4(TUBB3):c.862G>A (p.Glu288Lys)
|
rs1057521924
|
|
NM_006086.4(TUBB3):c.863A>C (p.Glu288Ala)
|
rs2030417656
|
|
NM_006086.4(TUBB3):c.925C>T (p.Arg309Cys)
|
rs2151092961
|
|
NM_006086.4(TUBB3):c.929A>G (p.Tyr310Cys)
|
rs2151092964
|
|
NM_006086.4(TUBB3):c.982G>A (p.Glu328Lys)
|
rs1057518686
|
|
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile)
|
rs767399782
|
|
NM_006133.3(DAGLA):c.2437_2446del (p.Leu813fs)
|
|
|
NM_006178.4(NSF):c.1688C>G (p.Pro563Arg)
|
|
|
NM_006180.6(NTRK2):c.1279G>T (p.Gly427Cys)
|
rs142393662
|
|
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys)
|
rs886041091
|
|
NM_006186.4(NR4A2):c.327dup (p.Ser110fs)
|
rs1553456695
|
|
NM_006186.4(NR4A2):c.598_601dup (p.Pro201fs)
|
rs1686821540
|
|
NM_006214.4(PHYH):c.124C>T (p.Gln42Ter)
|
|
|
NM_006214.4(PHYH):c.225del (p.Asp75fs)
|
|
|
NM_006214.4(PHYH):c.343G>T (p.Glu115Ter)
|
|
|
NM_006214.4(PHYH):c.388del (p.Leu130fs)
|
|
|
NM_006214.4(PHYH):c.399C>G (p.Tyr133Ter)
|
|
|
NM_006214.4(PHYH):c.414+2T>C
|
rs1554784939
|
|
NM_006214.4(PHYH):c.415-1G>T
|
|
|
NM_006214.4(PHYH):c.426del (p.Lys141_Tyr142insTer)
|
|
|
NM_006214.4(PHYH):c.488del (p.Pro163fs)
|
|
|
NM_006214.4(PHYH):c.497-1G>A
|
rs761927136
|
|
NM_006214.4(PHYH):c.502A>T (p.Lys168Ter)
|
|
|
NM_006214.4(PHYH):c.50dup (p.Gly18fs)
|
|
|
NM_006214.4(PHYH):c.520dup (p.Leu174fs)
|
|
|
NM_006214.4(PHYH):c.527_528del (p.Gln176fs)
|
|
|
NM_006214.4(PHYH):c.549_550delinsT (p.Arg184fs)
|
|
|
NM_006214.4(PHYH):c.578G>A (p.Trp193Ter)
|
|
|
NM_006214.4(PHYH):c.640A>T (p.Lys214Ter)
|
|
|
NM_006214.4(PHYH):c.684del (p.Val229fs)
|
|
|
NM_006214.4(PHYH):c.686_687del (p.Val229fs)
|
|
|
NM_006214.4(PHYH):c.766_767del (p.Val256fs)
|
rs797045100
|
|
NM_006214.4(PHYH):c.811del (p.Thr271fs)
|
rs2131634446
|
|
NM_006214.4(PHYH):c.896del (p.Asn299fs)
|
|
|
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)
|
rs1057519925
|
|
NM_006218.4(PIK3CA):c.1357G>C (p.Glu453Gln)
|
rs1057519925
|
|
NM_006218.4(PIK3CA):c.1359A>T (p.Glu453Asp)
|
rs1057519926
|
|
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys)
|
rs121913273
|
|
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln)
|
rs121913273
|
|
NM_006218.4(PIK3CA):c.1625A>C (p.Glu542Ala)
|
rs1057519927
|
|
NM_006218.4(PIK3CA):c.1625A>G (p.Glu542Gly)
|
rs1057519927
|
|
NM_006218.4(PIK3CA):c.1625A>T (p.Glu542Val)
|
rs1057519927
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln)
|
rs104886003
|
|
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala)
|
rs121913274
|
|
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly)
|
rs121913274
|
|
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp)
|
rs121913275
|
|
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys)
|
rs121913286
|
|
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu)
|
rs121913286
|
|
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro)
|
rs397517201
|
|
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg)
|
rs397517201
|
|
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu)
|
rs397517201
|
|
NM_006218.4(PIK3CA):c.1638G>T (p.Gln546His)
|
rs1057519940
|
|
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)
|
rs867262025
|
|
NM_006218.4(PIK3CA):c.2177A>C (p.Glu726Ala)
|
rs1057519928
|
|
NM_006218.4(PIK3CA):c.241G>A (p.Glu81Lys)
|
rs1057519929
|
|
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)
|
rs121913287
|
|
NM_006218.4(PIK3CA):c.3127A>G (p.Met1043Val)
|
rs1057519936
|
|
NM_006218.4(PIK3CA):c.3127A>T (p.Met1043Leu)
|
rs1057519936
|
|
NM_006218.4(PIK3CA):c.3128T>C (p.Met1043Thr)
|
rs1057519937
|
|
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile)
|
rs121913283
|
|
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr)
|
rs121913281
|
|
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln)
|
rs1057519932
|
|
NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)
|
rs1057519933
|
|
NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)
|
rs1057519935
|
|
NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn)
|
rs1057519934
|
|
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp)
|
rs587777790
|
|
NM_006245.4(PPP2R5D):c.589G>A (p.Glu197Lys)
|
rs863225081
|
|
NM_006245.4(PPP2R5D):c.590A>G (p.Glu197Gly)
|
rs1339608272
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.592_600del (p.Glu198_Glu200del)
|
rs2150278773
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
NM_006245.4(PPP2R5D):c.599_602delinsGGCA (p.Glu200_Pro201delinsGlyHis)
|
rs1762135444
|
|
NM_006245.4(PPP2R5D):c.621G>C (p.Trp207Cys)
|
rs2150278805
|
|
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)
|
rs1762136390
|
|
NM_006245.4(PPP2R5D):c.649T>C (p.Phe217Leu)
|
|
|
NM_006245.4(PPP2R5D):c.748G>A (p.Glu250Lys)
|
rs1762178779
|
|
NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn)
|
rs1762178916
|
|
NM_006245.4(PPP2R5D):c.751G>C (p.Asp251His)
|
rs1762178916
|
|
NM_006245.4(PPP2R5D):c.751G>T (p.Asp251Tyr)
|
rs1762178916
|
|
NM_006245.4(PPP2R5D):c.752A>T (p.Asp251Val)
|
rs1064794719
|
|
NM_006261.5(PROP1):c.109+1G>T
|
rs1214465435
|
|
NM_006261.5(PROP1):c.112_124del (p.Ser38fs)
|
rs587776682
|
|
NM_006261.5(PROP1):c.129dup (p.Arg44fs)
|
rs2113064591
|
|
NM_006261.5(PROP1):c.156dup (p.Arg53fs)
|
rs1554182514
|
|
NM_006261.5(PROP1):c.191dup (p.Arg65fs)
|
rs1554182507
|
|
NM_006261.5(PROP1):c.197dup (p.His67fs)
|
rs1057517424
|
|
NM_006261.5(PROP1):c.211C>T (p.Arg71Cys)
|
|
|
NM_006261.5(PROP1):c.274C>T (p.Gln92Ter)
|
rs794726693
|
|
NM_006261.5(PROP1):c.288_289del (p.Ile96fs)
|
rs1057516832
|
|
NM_006261.5(PROP1):c.2T>C (p.Met1Thr)
|
rs1554182645
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
NM_006261.5(PROP1):c.310del (p.Arg104fs)
|
rs786204663
|
|
NM_006261.5(PROP1):c.340C>T (p.Gln114Ter)
|
rs1554182481
|
|
NM_006261.5(PROP1):c.342+1G>A
|
rs1436089021
|
|
NM_006261.5(PROP1):c.343-1G>A
|
|
|
NM_006261.5(PROP1):c.343-2A>T
|
rs1057517041
|
|
NM_006261.5(PROP1):c.386_387dup (p.Ser130fs)
|
rs1554182405
|
|
NM_006261.5(PROP1):c.390_391del (p.Leu131fs)
|
rs1057517027
|
|
NM_006261.5(PROP1):c.3G>C (p.Met1Ile)
|
rs1064797071
|
|
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter)
|
rs140016178
|
|
NM_006261.5(PROP1):c.557del (p.Ala186fs)
|
rs762529663
|
|
NM_006261.5(PROP1):c.568C>T (p.Gln190Ter)
|
|
|
NM_006261.5(PROP1):c.582G>A (p.Trp194Ter)
|
rs121917845
|
|
NM_006261.5(PROP1):c.611del (p.Gly204fs)
|
rs1554182368
|
|
NM_006261.5(PROP1):c.629del (p.Pro210fs)
|
rs761018422
|
|
NM_006261.5(PROP1):c.629dup (p.Pro211fs)
|
rs761018422
|
|
NM_006261.5(PROP1):c.74_75dup (p.His26fs)
|
rs1554182632
|
|
NM_006267.5(RANBP2):c.5249C>G (p.Pro1750Arg)
|
rs1060499624
|
|
NM_006279.5(ST3GAL3):c.118+1G>A
|
rs2154091891
|
|
NM_006279.5(ST3GAL3):c.167-2A>G
|
|
|
NM_006279.5(ST3GAL3):c.167-2A>T
|
|
|
NM_006279.5(ST3GAL3):c.210-1G>C
|
|
|
NM_006279.5(ST3GAL3):c.397+2T>C
|
rs200255759
|
|
NM_006279.5(ST3GAL3):c.558-19_562del
|
|
|
NM_006279.5(ST3GAL3):c.891+1G>T
|
rs2082857900
|
|
NM_006279.5(ST3GAL3):c.891+2T>G
|
|
|
NM_006297.3(XRCC1):c.1015C>T (p.Arg339Ter)
|
|
|
NM_006306.4(SMC1A):c.1072_1073del (p.Gln359fs)
|
rs2146604738
|
|
NM_006306.4(SMC1A):c.1342_1348del (p.Ser448fs)
|
rs2075702300
|
|
NM_006306.4(SMC1A):c.1832dup (p.Tyr611Ter)
|
|
|
NM_006306.4(SMC1A):c.2029AAG[1] (p.Lys678del)
|
rs2146599562
|
|
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)
|
rs587784409
|
|
NM_006306.4(SMC1A):c.2299del (p.Glu767fs)
|
|
|
NM_006306.4(SMC1A):c.2611C>T (p.Gln871Ter)
|
rs2075652085
|
|
NM_006306.4(SMC1A):c.3040C>T (p.Gln1014Ter)
|
|
|
NM_006306.4(SMC1A):c.3118G>A (p.Glu1040Lys)
|
|
|
NM_006306.4(SMC1A):c.3146G>A (p.Arg1049Gln)
|
rs587784416
|
|
NM_006306.4(SMC1A):c.3181C>T (p.Gln1061Ter)
|
rs2146582657
|
|
NM_006306.4(SMC1A):c.829CAG[2] (p.Gln279del)
|
|
|
NM_006321.4(ARIH2):c.1411-3C>T
|
|
|
NM_006421.5(ARFGEF1):c.1028-2A>T
|
rs2128900324
|
|
NM_006493.4(CLN5):c.144dup (p.Ser49fs)
|
rs386833970
|
|
NM_006493.4(CLN5):c.173+1G>A
|
|
|
NM_006493.4(CLN5):c.173+1G>T
|
rs1739482158
|
|
NM_006493.4(CLN5):c.230G>A (p.Cys77Tyr)
|
rs267606738
|
|
NM_006493.4(CLN5):c.339+1G>A
|
|
|
NM_006493.4(CLN5):c.339+1G>T
|
|
|
NM_006493.4(CLN5):c.340-1G>C
|
|
|
NM_006493.4(CLN5):c.340-1del
|
rs1057516390
|
|
NM_006493.4(CLN5):c.340-52_365delinsTAACGGG
|
|
|
NM_006493.4(CLN5):c.371del (p.Ser124fs)
|
rs794729218
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)
|
rs386833975
|
|
NM_006493.4(CLN5):c.475T>C (p.Cys159Arg)
|
rs2154034738
|
|
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp)
|
rs386833981
|
|
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
|
rs786204644
|
|
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp)
|
rs587784390
|
|
NM_006516.4(SLC2A1):c.102T>G (p.Asn34Lys)
|
rs1570601007
|
|
NM_006516.4(SLC2A1):c.107C>T (p.Pro36Leu)
|
rs1570600997
|
|
NM_006516.4(SLC2A1):c.1136T>C (p.Phe379Ser)
|
rs2124446500
|
|
NM_006516.4(SLC2A1):c.1199G>A (p.Arg400His)
|
rs776095655
|
|
NM_006516.4(SLC2A1):c.1199_1200insGAG (p.Arg400_Pro401insSer)
|
rs1570590905
|
|
NM_006516.4(SLC2A1):c.1234T>G (p.Trp412Gly)
|
rs1570590859
|
|
NM_006516.4(SLC2A1):c.1264T>C (p.Phe422Leu)
|
rs1570590834
|
|
NM_006516.4(SLC2A1):c.1300T>G (p.Phe434Val)
|
rs1570590528
|
|
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)
|
rs864309522
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
NM_006516.4(SLC2A1):c.209C>T (p.Ala70Val)
|
rs2124450819
|
|
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.286del (p.Met96fs)
|
rs1643481930
|
|
NM_006516.4(SLC2A1):c.287T>C (p.Met96Thr)
|
rs1643481875
|
|
NM_006516.4(SLC2A1):c.2T>C (p.Met1Thr)
|
rs1553157935
|
|
NM_006516.4(SLC2A1):c.339del (p.Lys114fs)
|
rs1643480923
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser)
|
rs1057518953
|
|
NM_006516.4(SLC2A1):c.424A>C (p.Met142Leu)
|
|
|
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro)
|
rs794727642
|
|
NM_006516.4(SLC2A1):c.458G>T (p.Arg153Leu)
|
rs794727642
|
|
NM_006516.4(SLC2A1):c.46_47insCTCCTCA (p.Val16fs)
|
rs1570601060
|
|
NM_006516.4(SLC2A1):c.499G>C (p.Gly167Arg)
|
rs773339124
|
|
NM_006516.4(SLC2A1):c.49G>A (p.Gly17Arg)
|
rs1345986424
|
|
NM_006516.4(SLC2A1):c.505_507del (p.Leu169del)
|
rs80359832
|
|
NM_006516.4(SLC2A1):c.598C>T (p.Gln200Ter)
|
rs1057521967
|
|
NM_006516.4(SLC2A1):c.621_629del (p.Glu209_Pro211del)
|
rs1557646075
|
|
NM_006516.4(SLC2A1):c.635G>A (p.Arg212His)
|
rs886039517
|
|
NM_006516.4(SLC2A1):c.680-3C>G
|
rs112081052
|
|
NM_006516.4(SLC2A1):c.692T>C (p.Leu231Pro)
|
rs2124449089
|
|
NM_006516.4(SLC2A1):c.694C>T (p.Arg232Cys)
|
rs387907313
|
|
NM_006516.4(SLC2A1):c.728A>T (p.Glu243Val)
|
rs2124449030
|
|
NM_006516.4(SLC2A1):c.731T>C (p.Met244Thr)
|
rs1064795363
|
|
NM_006516.4(SLC2A1):c.737_740del (p.Glu246fs)
|
|
|
NM_006516.4(SLC2A1):c.843_854del (p.Gln282_Ser285del)
|
rs2124448824
|
|
NM_006516.4(SLC2A1):c.851T>C (p.Leu284Pro)
|
rs2124448826
|
|
NM_006516.4(SLC2A1):c.913C>T (p.Gln305Ter)
|
|
|
NM_006516.4(SLC2A1):c.929C>T (p.Thr310Ile)
|
rs80359824
|
|
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe)
|
rs794727870
|
|
NM_006516.4(SLC2A1):c.964del (p.Val322fs)
|
|
|
NM_006516.4(SLC2A1):c.971C>T (p.Ser324Leu)
|
rs796053253
|
|
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=)
|
rs796053254
|
|
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
|
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)
|
rs1553155986
|
|
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)
|
rs587784384
|
|
NM_006517.5(SLC16A2):c.1203del (p.Ser401_Met402insTer)
|
rs2147871837
|
|
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn)
|
rs2147871878
|
|
NM_006517.5(SLC16A2):c.1388C>T (p.Pro463Leu)
|
rs2147871919
|
|
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser)
|
rs1363308293
|
|
NM_006517.5(SLC16A2):c.1461dup (p.Ile488fs)
|
rs2147350836
|
|
NM_006517.5(SLC16A2):c.364G>A (p.Gly122Arg)
|
|
|
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs)
|
rs1602099961
|
|
NM_006517.5(SLC16A2):c.431-2A>G
|
rs2147869490
|
|
NM_006517.5(SLC16A2):c.435G>A (p.Trp145Ter)
|
rs1930396705
|
|
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu)
|
rs104894936
|
|
NM_006517.5(SLC16A2):c.461TCT[2] (p.Phe156del)
|
rs387906501
|
|
NM_006517.5(SLC16A2):c.590G>A (p.Arg197His)
|
rs727504155
|
|
NM_006517.5(SLC16A2):c.607del (p.Ile203fs)
|
rs2147870528
|
|
NM_006517.5(SLC16A2):c.629C>A (p.Ser210Tyr)
|
|
|
NM_006517.5(SLC16A2):c.640C>T (p.Gln214Ter)
|
|
|
NM_006517.5(SLC16A2):c.731del (p.Met244fs)
|
|
|
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter)
|
rs2147870607
|
|
NM_006517.5(SLC16A2):c.855dup (p.Ser286fs)
|
|
|
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg)
|
rs587784383
|
|
NM_006517.5(SLC16A2):c.97dup (p.Ser33fs)
|
rs2147833877
|
|
NM_006521.6(TFE3):c.374_379del (p.123AQ[1])
|
|
|
NM_006521.6(TFE3):c.556C>A (p.Pro186Thr)
|
|
|
NM_006521.6(TFE3):c.556C>T (p.Pro186Ser)
|
|
|
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)
|
rs2064742925
|
|
NM_006521.6(TFE3):c.566A>G (p.Tyr189Cys)
|
rs2064742830
|
|
NM_006521.6(TFE3):c.569A>G (p.His190Arg)
|
rs2147776445
|
|
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)
|
rs886037963
|
|
NM_006545.5(NPRL2):c.232C>T (p.Arg78Cys)
|
|
|
NM_006545.5(NPRL2):c.445_448+3del
|
rs1575562076
|
|
NM_006545.5(NPRL2):c.491dup (p.Asp165fs)
|
rs1703652698
|
|
NM_006545.5(NPRL2):c.562C>T (p.Gln188Ter)
|
rs2109365845
|
|
NM_006545.5(NPRL2):c.865_871del (p.Ser289fs)
|
rs2109364484
|
|
NM_006545.5(NPRL2):c.907del (p.Gln303fs)
|
|
|
NM_006545.5(NPRL2):c.932+1G>A
|
rs1703621639
|
|
NM_006565.4(CTCF):c.-3_2delinsTC (p.Met1del)
|
rs2142822830
|
|
NM_006565.4(CTCF):c.1006G>C (p.Glu336Gln)
|
rs2142839453
|
|
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)
|
rs1567610917
|
|
NM_006565.4(CTCF):c.1025G>A (p.Arg342His)
|
rs1002125753
|
|
NM_006565.4(CTCF):c.1079G>T (p.Ser360Ile)
|
rs1597718106
|
|
NM_006565.4(CTCF):c.1118A>C (p.His373Pro)
|
rs2142847343
|
|
NM_006565.4(CTCF):c.1119T>A (p.His373Gln)
|
rs2142847350
|
|
NM_006565.4(CTCF):c.1226G>A (p.Cys409Tyr)
|
rs2142849459
|
|
NM_006565.4(CTCF):c.1365C>G (p.His455Gln)
|
rs1597725291
|
|
NM_006565.4(CTCF):c.1376A>C (p.Gln459Pro)
|
|
|
NM_006565.4(CTCF):c.1960C>T (p.Arg654Ter)
|
rs2142887156
|
|
NM_006565.4(CTCF):c.280C>T (p.Gln94Ter)
|
rs2052056277
|
|
NM_006565.4(CTCF):c.442dup (p.Ala148fs)
|
|
|
NM_006565.4(CTCF):c.721_722del (p.Asn241fs)
|
|
|
NM_006565.4(CTCF):c.782-1G>A
|
|
|
NM_006565.4(CTCF):c.782-1G>C
|
rs2142827936
|
|
NM_006565.4(CTCF):c.782-1G>T
|
rs2142827936
|
|
NM_006565.4(CTCF):c.782-2A>G
|
rs1555534189
|
|
NM_006565.4(CTCF):c.848G>A (p.Arg283His)
|
rs1567609067
|
|
NM_006565.4(CTCF):c.867_868dup (p.Asp290fs)
|
|
|
NM_006565.4(CTCF):c.881A>C (p.His294Pro)
|
rs2052068772
|
|
NM_006565.4(CTCF):c.958C>G (p.Arg320Gly)
|
rs1161257134
|
|
NM_006565.4(CTCF):c.979T>A (p.Cys327Ser)
|
rs2052136913
|
|
NM_006586.5(CNPY3):c.628C>T (p.Gln210Ter)
|
rs1768394971
|
|
NM_006593.4(TBR1):c.1653_1654del (p.Gln552fs)
|
rs1553511226
|
|
NM_006593.4(TBR1):c.553C>T (p.Gln185Ter)
|
rs1553510182
|
|
NM_006593.4(TBR1):c.933_934insCAAAGGA (p.Thr312fs)
|
rs1684167000
|
|
NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)
|
|
|
NM_006618.5(KDM5B):c.2945+1G>A
|
rs2102232815
|
|
NM_006618.5(KDM5B):c.3224del (p.Asn1075fs)
|
|
|
NM_006618.5(KDM5B):c.3309_3312del (p.Arg1103fs)
|
|
|
NM_006618.5(KDM5B):c.3635del (p.Gly1212fs)
|
|
|
NM_006618.5(KDM5B):c.3652dup (p.Cys1218fs)
|
rs1572705473
|
|
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter)
|
rs1558478047
|
|
NM_006618.5(KDM5B):c.418G>T (p.Glu140Ter)
|
|
|
NM_006618.5(KDM5B):c.998_1004del (p.Ser333fs)
|
|
|
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter)
|
rs1553851860
|
|
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter)
|
rs1060499735
|
|
NM_006651.4(CPLX1):c.66_75del (p.Asp23fs)
|
|
|
NM_006721.4(ADK):c.1031C>T (p.Ala344Val)
|
rs1589387419
|
|
NM_006721.4(ADK):c.642_645del (p.Ser215fs)
|
|
|
NM_006721.4(ADK):c.813dup (p.Asn272fs)
|
rs1589286482
|
|
NM_006721.4(ADK):c.916C>T (p.Gln306Ter)
|
|
|
NM_006734.4(HIVEP2):c.117del (p.Phe39fs)
|
|
|
NM_006734.4(HIVEP2):c.1189G>T (p.Asp397Tyr)
|
rs869312847
|
|
NM_006734.4(HIVEP2):c.2367del (p.Gly791fs)
|
|
|
NM_006734.4(HIVEP2):c.2925del (p.His975fs)
|
|
|
NM_006734.4(HIVEP2):c.3490C>T (p.Gln1164Ter)
|
|
|
NM_006734.4(HIVEP2):c.3678dup (p.Gln1227fs)
|
|
|
NM_006734.4(HIVEP2):c.4036G>T (p.Gly1346Ter)
|
rs1775510548
|
|
NM_006734.4(HIVEP2):c.4655del (p.Pro1552fs)
|
|
|
NM_006734.4(HIVEP2):c.5188-1del
|
|
|
NM_006734.4(HIVEP2):c.5620+1GT[2]
|
rs1775234925
|
|
NM_006734.4(HIVEP2):c.5935C>T (p.Arg1979Ter)
|
rs1554275163
|
|
NM_006734.4(HIVEP2):c.6617_6618del (p.Pro2206fs)
|
rs1774993424
|
|
NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter)
|
rs1554274371
|
|
NM_006765.4(TUSC3):c.119dup (p.Gly41fs)
|
|
|
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
|
|
|
NM_006765.4(TUSC3):c.568-2A>G
|
rs2129179995
|
|
NM_006766.5(KAT6A):c.1039_1040del (p.Thr347fs)
|
|
|
NM_006766.5(KAT6A):c.1582C>T (p.Pro528Ser)
|
rs1822869930
|
|
NM_006766.5(KAT6A):c.1907_1908del (p.Lys636fs)
|
|
|
NM_006766.5(KAT6A):c.2218del (p.Arg740fs)
|
rs1587723169
|
|
NM_006766.5(KAT6A):c.2842C>T (p.Arg948Ter)
|
rs1211232252
|
|
NM_006766.5(KAT6A):c.3055C>T (p.Arg1019Ter)
|
rs1554680902
|
|
NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter)
|
rs886042000
|
|
NM_006766.5(KAT6A):c.3596del (p.Gly1199fs)
|
rs1554680188
|
|
NM_006766.5(KAT6A):c.3721del (p.Glu1241fs)
|
|
|
NM_006766.5(KAT6A):c.3921_3922del (p.Glu1307fs)
|
rs2150856658
|
|
NM_006766.5(KAT6A):c.4070del (p.Gln1357fs)
|
rs1821721248
|
|
NM_006766.5(KAT6A):c.4229_4230del (p.Lys1410fs)
|
|
|
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
|
|
|
NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs)
|
|
|
NM_006766.5(KAT6A):c.4645G>A (p.Gly1549Ser)
|
rs1064794000
|
|
NM_006766.5(KAT6A):c.4664G>A (p.Ser1555Asn)
|
rs1821677301
|
|
NM_006766.5(KAT6A):c.4666A>T (p.Ile1556Phe)
|
rs1821677152
|
|
NM_006766.5(KAT6A):c.4667T>C (p.Ile1556Thr)
|
|
|
NM_006766.5(KAT6A):c.4674C>A (p.Ser1558Arg)
|
|
|
NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer)
|
rs1554679726
|
|
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter)
|
rs2150855722
|
|
NM_006766.5(KAT6A):c.5123del (p.Asn1708fs)
|
rs2150855326
|
|
NM_006766.5(KAT6A):c.5161_5165del (p.Pro1721fs)
|
|
|
NM_006766.5(KAT6A):c.5235dup (p.Gln1746fs)
|
|
|
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter)
|
rs1395351821
|
|
NM_006766.5(KAT6A):c.772C>T (p.Gln258Ter)
|
|
|
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter)
|
rs1554688879
|
|
NM_006772.2(SYNGAP1):c.1532_1534del
|
rs1760930568
|
|
NM_006772.3(SYNGAP1):c.1205T>G (p.Leu402Arg)
|
rs1554121265
|
|
NM_006772.3(SYNGAP1):c.1249_1252dup (p.Lys418delinsIleTer)
|
rs1760904978
|
|
NM_006772.3(SYNGAP1):c.1255G>T (p.Glu419Ter)
|
rs2151170014
|
|
NM_006772.3(SYNGAP1):c.1259T>C (p.Phe420Ser)
|
rs1760905358
|
|
NM_006772.3(SYNGAP1):c.1269T>A (p.Tyr423Ter)
|
rs1561785045
|
|
NM_006772.3(SYNGAP1):c.1292T>C (p.Leu431Pro)
|
rs1581987885
|
|
NM_006772.3(SYNGAP1):c.1312del (p.Ala438fs)
|
rs2151170227
|
|
NM_006772.3(SYNGAP1):c.1352T>C (p.Leu451Pro)
|
|
|
NM_006772.3(SYNGAP1):c.1393_1395dup (p.Leu465_Ser466insLeu)
|
|
|
NM_006772.3(SYNGAP1):c.1394T>C (p.Leu465Pro)
|
rs2151170996
|
|
NM_006772.3(SYNGAP1):c.1403T>A (p.Met468Lys)
|
rs763770519
|
|
NM_006772.3(SYNGAP1):c.1481T>G (p.Ile494Arg)
|
rs2151171287
|
|
NM_006772.3(SYNGAP1):c.1513T>C (p.Tyr505His)
|
|
|
NM_006772.3(SYNGAP1):c.1517T>C (p.Leu506Pro)
|
rs1760918521
|
|
NM_006772.3(SYNGAP1):c.1532-1G>A
|
rs1760930644
|
|
NM_006772.3(SYNGAP1):c.1532-1G>C
|
rs1760930644
|
|
NM_006772.3(SYNGAP1):c.1556A>C (p.Glu519Ala)
|
rs1760931697
|
|
NM_006772.3(SYNGAP1):c.1583delinsTG (p.Pro528fs)
|
rs2151172438
|
|
NM_006772.3(SYNGAP1):c.1631G>C (p.Arg544Pro)
|
rs1480178032
|
|
NM_006772.3(SYNGAP1):c.1652T>C (p.Leu551Pro)
|
rs1554121453
|
|
NM_006772.3(SYNGAP1):c.1676+1G>A
|
rs2151172748
|
|
NM_006772.3(SYNGAP1):c.1677-2A>G
|
rs2151180361
|
|
NM_006772.3(SYNGAP1):c.1685C>T (p.Pro562Leu)
|
rs397514670
|
|
NM_006772.3(SYNGAP1):c.1717C>T (p.Arg573Trp)
|
rs1064795331
|
|
NM_006772.3(SYNGAP1):c.1802C>A (p.Ala601Glu)
|
rs1761012352
|
|
NM_006772.3(SYNGAP1):c.189+1G>A
|
|
|
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro)
|
rs1761021165
|
|
NM_006772.3(SYNGAP1):c.1913+1G>A
|
rs2151181124
|
|
NM_006772.3(SYNGAP1):c.1913+2_1913+5del
|
rs2151181120
|
|
NM_006772.3(SYNGAP1):c.1914-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.1925A>C (p.Lys642Thr)
|
rs1485749468
|
|
NM_006772.3(SYNGAP1):c.2071A>C (p.Thr691Pro)
|
rs1581992998
|
|
NM_006772.3(SYNGAP1):c.2087T>C (p.Leu696Pro)
|
rs2151182679
|
|
NM_006772.3(SYNGAP1):c.2104_2115+14del
|
rs1064792984
|
|
NM_006772.3(SYNGAP1):c.2143C>T (p.Pro715Ser)
|
|
|
NM_006772.3(SYNGAP1):c.2250dup (p.Pro751fs)
|
rs1761049027
|
|
NM_006772.3(SYNGAP1):c.2294+1G>A
|
rs1554121970
|
|
NM_006772.3(SYNGAP1):c.2294+1G>C
|
|
|
NM_006772.3(SYNGAP1):c.2337-1G>A
|
|
|
NM_006772.3(SYNGAP1):c.2621_2625dup (p.Ser876fs)
|
rs1761096151
|
|
NM_006772.3(SYNGAP1):c.2782C>T (p.Gln928Ter)
|
rs1554122249
|
|
NM_006772.3(SYNGAP1):c.2852A>G (p.His951Arg)
|
rs1761103512
|
|
NM_006772.3(SYNGAP1):c.2982del (p.Lys994fs)
|
|
|
NM_006772.3(SYNGAP1):c.3025G>T (p.Glu1009Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3151G>T (p.Gly1051Cys)
|
rs1761113561
|
|
NM_006772.3(SYNGAP1):c.3196C>T (p.Pro1066Ser)
|
rs2151190466
|
|
NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs)
|
rs1057518796
|
|
NM_006772.3(SYNGAP1):c.3238G>A (p.Ala1080Thr)
|
rs1200128322
|
|
NM_006772.3(SYNGAP1):c.3322_3323del (p.Ser1108fs)
|
rs1581997098
|
|
NM_006772.3(SYNGAP1):c.3406C>T (p.Gln1136Ter)
|
rs1554122400
|
|
NM_006772.3(SYNGAP1):c.3494C>T (p.Ser1165Leu)
|
rs875989808
|
|
NM_006772.3(SYNGAP1):c.34_35del (p.Ser12fs)
|
rs1554304254
|
|
NM_006772.3(SYNGAP1):c.3534C>A (p.Tyr1178Ter)
|
rs2151193128
|
|
NM_006772.3(SYNGAP1):c.3583-6G>A
|
rs869312674
|
|
NM_006772.3(SYNGAP1):c.3635C>T (p.Ser1212Phe)
|
rs1761209473
|
|
NM_006772.3(SYNGAP1):c.3711T>A (p.Tyr1237Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3722_3723del (p.Leu1241fs)
|
rs1554122735
|
|
NM_006772.3(SYNGAP1):c.3795-1G>C
|
rs1761241410
|
|
NM_006772.3(SYNGAP1):c.387G>A (p.Ser129=)
|
rs767126748
|
|
NM_006772.3(SYNGAP1):c.388-3C>G
|
rs1448169616
|
|
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)
|
rs1131692154
|
|
NM_006772.3(SYNGAP1):c.458C>A (p.Thr153Asn)
|
rs998489108
|
|
NM_006772.3(SYNGAP1):c.484C>T (p.Arg162Cys)
|
rs1554120589
|
|
NM_006772.3(SYNGAP1):c.490C>T (p.Arg164Ter)
|
rs1057518352
|
|
NM_006772.3(SYNGAP1):c.509G>A (p.Arg170Gln)
|
rs1057519546
|
|
NM_006772.3(SYNGAP1):c.629_632dup (p.Ser211fs)
|
|
|
NM_006772.3(SYNGAP1):c.662A>T (p.Glu221Val)
|
|
|
NM_006772.3(SYNGAP1):c.663+1G>T
|
rs1064797322
|
|
NM_006772.3(SYNGAP1):c.703T>C (p.Ser235Pro)
|
rs2151161955
|
|
NM_006772.3(SYNGAP1):c.725G>A (p.Trp242Ter)
|
rs1554120974
|
|
NM_006772.3(SYNGAP1):c.743G>C (p.Arg248Pro)
|
rs1400108198
|
|
NM_006772.3(SYNGAP1):c.767A>G (p.Asn256Ser)
|
|
|
NM_006772.3(SYNGAP1):c.844T>C (p.Cys282Arg)
|
rs1581987022
|
|
NM_006772.3(SYNGAP1):c.847del (p.Glu283fs)
|
rs2151168593
|
|
NM_006772.3(SYNGAP1):c.859G>C (p.Asp287His)
|
rs2151168637
|
|
NM_006772.3(SYNGAP1):c.878G>C (p.Arg293Pro)
|
rs1561784553
|
|
NM_006772.3(SYNGAP1):c.881_886delinsTCACCG (p.Thr294_Ser296delinsIleThrAla)
|
|
|
NM_006772.3(SYNGAP1):c.924G>C (p.Trp308Cys)
|
rs1554121202
|
|
NM_006772.3(SYNGAP1):c.928G>A (p.Glu310Lys)
|
rs1554121206
|
|
NM_006772.3(SYNGAP1):c.930G>C (p.Glu310Asp)
|
rs1760890843
|
|
NM_006772.3(SYNGAP1):c.968T>G (p.Leu323Arg)
|
rs1760891950
|
|
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter)
|
rs140609531
|
|
NM_006796.3(AFG3L2):c.1119T>A (p.Ser373Arg)
|
rs1598832568
|
|
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)
|
rs727502823
|
|
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile)
|
rs151344513
|
|
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val)
|
rs151344514
|
|
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr)
|
rs797045221
|
|
NM_006842.3(SF3B2):c.2099A>G (p.Glu700Gly)
|
rs1057519960
|
|
NM_006852.6(TLK2):c.1015C>T (p.Arg339Trp)
|
rs1567948262
|
|
NM_006852.6(TLK2):c.1121+1G>A
|
rs2146617330
|
|
NM_006852.6(TLK2):c.1412A>G (p.His471Arg)
|
rs1567974030
|
|
NM_006852.6(TLK2):c.1480C>T (p.Arg494Trp)
|
|
|
NM_006852.6(TLK2):c.1487A>G (p.His496Arg)
|
rs1567995650
|
|
NM_006852.6(TLK2):c.1550+1G>A
|
rs2147105351
|
|
NM_006852.6(TLK2):c.1579G>A (p.Gly527Arg)
|
rs2147165095
|
|
NM_006852.6(TLK2):c.1586A>G (p.Asp529Gly)
|
rs2082811958
|
|
NM_006852.6(TLK2):c.1589T>C (p.Leu530Pro)
|
|
|
NM_006852.6(TLK2):c.1637G>A (p.Arg546Gln)
|
rs2147165727
|
|
NM_006852.6(TLK2):c.1819G>A (p.Asp607Asn)
|
rs1568006217
|
|
NM_006852.6(TLK2):c.1973C>G (p.Pro658Arg)
|
rs1568018905
|
|
NM_006852.6(TLK2):c.31C>T (p.Arg11Ter)
|
rs2144333874
|
|
NM_006852.6(TLK2):c.585C>A (p.Cys195Ter)
|
rs2146204977
|
|
NM_006852.6(TLK2):c.890G>A (p.Gly297Asp)
|
rs1555639254
|
|
NM_006852.6(TLK2):c.944G>T (p.Gly315Val)
|
|
|
NM_006852.6(TLK2):c.968+1G>A
|
rs1598620094
|
|
NM_006859.4(LIAS):c.1063G>C (p.Ala355Pro)
|
rs1745058899
|
|
NM_006859.4(LIAS):c.218+1G>A
|
|
|
NM_006859.4(LIAS):c.587C>A (p.Thr196Asn)
|
rs1744715983
|
|
NM_006859.4(LIAS):c.643del (p.Asp215fs)
|
rs1744806313
|
|
NM_006859.4(LIAS):c.884-1G>A
|
rs201155530
|
|
NM_006895.3(HNMT):c.475del (p.His159fs)
|
rs765863580
|
|
NM_006895.3(HNMT):c.623T>C (p.Leu208Pro)
|
rs745756308
|
|
NM_006908.5(RAC1):c.168G>C (p.Trp56Cys)
|
rs1783105049
|
|
NM_006908.5(RAC1):c.190T>C (p.Tyr64His)
|
|
|
NM_006908.5(RAC1):c.191A>G (p.Tyr64Cys)
|
rs2115201389
|
|
NM_006908.5(RAC1):c.198A>T (p.Arg66Ser)
|
rs1783105291
|
|
NM_006908.5(RAC1):c.212C>T (p.Ser71Phe)
|
rs2115201430
|
|
NM_006922.4(SCN3A):c.2564T>C (p.Leu855Pro)
|
rs2105776898
|
|
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr)
|
rs1057518801
|
|
NM_006922.4(SCN3A):c.2653C>T (p.Leu885Phe)
|
rs2105772689
|
|
NM_006922.4(SCN3A):c.2947TTG[1] (p.Leu984del)
|
rs1574159505
|
|
NM_006922.4(SCN3A):c.3998C>T (p.Pro1333Leu)
|
rs1057520753
|
|
NM_006922.4(SCN3A):c.4403T>G (p.Ile1468Arg)
|
rs755159935
|
|
NM_006922.4(SCN3A):c.4457C>T (p.Thr1486Ile)
|
rs2105636234
|
|
NM_006922.4(SCN3A):c.4518del (p.Lys1506fs)
|
rs2105635851
|
|
NM_006922.4(SCN3A):c.4862G>A (p.Arg1621Gln)
|
rs1199412903
|
|
NM_006922.4(SCN3A):c.4937T>C (p.Phe1646Ser)
|
rs2105621618
|
|
NM_006922.4(SCN3A):c.5006A>G (p.Tyr1669Cys)
|
rs2105621335
|
|
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile)
|
rs2105619771
|
|
NM_006922.4(SCN3A):c.5306T>C (p.Val1769Ala)
|
rs1553517274
|
|
NM_006922.4(SCN3A):c.5621T>G (p.Met1874Arg)
|
rs1685039783
|
|
NM_006922.4(SCN3A):c.626T>C (p.Leu209Pro)
|
rs1553537132
|
|
NM_006922.4(SCN3A):c.694+1G>T
|
rs2105892972
|
|
NM_006922.4(SCN3A):c.694+2T>G
|
|
|
NM_006940.4:c.1489-7709_1771+1399del
|
|
|
NM_006940.6(SOX5):c.559G>T (p.Glu187Ter)
|
rs1420871345
|
|
NM_006946.4(SPTBN2):c.1052G>C (p.Arg351Pro)
|
rs541484241
|
|
NM_006946.4(SPTBN2):c.1276_1278del (p.Leu426del)
|
rs1590955348
|
|
NM_006946.4(SPTBN2):c.1307T>C (p.Met436Thr)
|
rs1554986345
|
|
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp)
|
rs1941669517
|
|
NM_006946.4(SPTBN2):c.1310G>A (p.Arg437Gln)
|
rs1554986337
|
|
NM_006946.4(SPTBN2):c.181A>G (p.Lys61Glu)
|
rs797046006
|
|
NM_006946.4(SPTBN2):c.1877T>C (p.Leu626Pro)
|
rs1554984881
|
|
NM_006946.4(SPTBN2):c.193A>C (p.Lys65Gln)
|
rs2135526204
|
|
NM_006946.4(SPTBN2):c.2330dup (p.His777fs)
|
|
|
NM_006946.4(SPTBN2):c.3475C>T (p.Arg1159Ter)
|
|
|
NM_006946.4(SPTBN2):c.4358A>T (p.Asp1453Val)
|
rs1940772032
|
|
NM_006946.4(SPTBN2):c.4496A>T (p.Asp1499Val)
|
rs1940755126
|
|
NM_006946.4(SPTBN2):c.470T>C (p.Ile157Thr)
|
rs875989881
|
|
NM_006946.4(SPTBN2):c.5974C>T (p.Gln1992Ter)
|
rs2135319250
|
|
NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)
|
|
|
NM_006946.4(SPTBN2):c.812C>T (p.Thr271Ile)
|
rs1941829953
|
|
NM_006950.3(SYN1):c.1158+1G>T
|
|
|
NM_006950.3(SYN1):c.1159-2A>G
|
|
|
NM_006950.3(SYN1):c.1439dup (p.Leu481fs)
|
rs1556857481
|
|
NM_006950.3(SYN1):c.1471del (p.Gln491fs)
|
rs2147912333
|
|
NM_006950.3(SYN1):c.2028C>T (p.Ala676=)
|
rs2057764630
|
|
NM_006950.3(SYN1):c.314del (p.Gly105fs)
|
rs1603078587
|
|
NM_006950.3(SYN1):c.378-1G>A
|
rs2057900552
|
|
NM_006950.3(SYN1):c.528-2A>T
|
rs1556860663
|
|
NM_006950.3(SYN1):c.614T>A (p.Leu205Gln)
|
rs2057892972
|
|
NM_006950.3(SYN1):c.745C>T (p.Gln249Ter)
|
rs2057891984
|
|
NM_006950.3(SYN1):c.838-2A>G
|
rs2147913419
|
|
NM_006950.3(SYN1):c.954G>T (p.Lys318Asn)
|
|
|
NM_006950.3(SYN1):c.986C>T (p.Thr329Met)
|
rs2057777813
|
|
NM_007118.4(TRIO):c.1665_1666delinsTT (p.Trp555_Gln556delinsCysTer)
|
rs2152305937
|
|
NM_007118.4(TRIO):c.1863C>G (p.Tyr621Ter)
|
rs140745100
|
|
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter)
|
rs1554062562
|
|
NM_007118.4(TRIO):c.2570dup (p.Asn857fs)
|
rs2152340697
|
|
NM_007118.4(TRIO):c.2638_2641dup (p.Leu881fs)
|
|
|
NM_007118.4(TRIO):c.298C>T (p.Arg100Ter)
|
|
|
NM_007118.4(TRIO):c.3224C>T (p.Thr1075Ile)
|
rs1745368018
|
|
NM_007118.4(TRIO):c.3232C>T (p.Arg1078Trp)
|
|
|
NM_007118.4(TRIO):c.3570+3G>A
|
rs2152354197
|
|
NM_007118.4(TRIO):c.3571C>T (p.Gln1191Ter)
|
|
|
NM_007118.4(TRIO):c.3657dup (p.Cys1220fs)
|
rs1554068529
|
|
NM_007118.4(TRIO):c.3908C>T (p.Thr1303Ile)
|
rs1746764895
|
|
NM_007118.4(TRIO):c.4085A>G (p.Tyr1362Cys)
|
|
|
NM_007118.4(TRIO):c.4103A>G (p.Asp1368Gly)
|
rs2152363791
|
|
NM_007118.4(TRIO):c.4276G>T (p.Val1426Phe)
|
rs1579522661
|
|
NM_007118.4(TRIO):c.4300C>T (p.Leu1434Phe)
|
rs1747352673
|
|
NM_007118.4(TRIO):c.4343G>A (p.Gly1448Glu)
|
|
|
NM_007118.4(TRIO):c.4382C>G (p.Pro1461Arg)
|
rs1747667518
|
|
NM_007118.4(TRIO):c.4382C>T (p.Pro1461Leu)
|
rs1747667518
|
|
NM_007118.4(TRIO):c.4387C>T (p.Arg1463Ter)
|
rs748670822
|
|
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)
|
rs1747669042
|
|
NM_007118.4(TRIO):c.4495del (p.Thr1499fs)
|
rs2152373759
|
|
NM_007118.4(TRIO):c.4649dup (p.Asp1551fs)
|
|
|
NM_007118.4(TRIO):c.4716G>A (p.Lys1572=)
|
|
|
NM_007118.4(TRIO):c.4860-2A>G
|
rs1579564431
|
|
NM_007118.4(TRIO):c.5619G>A (p.Met1873Ile)
|
|
|
NM_007118.4(TRIO):c.5680T>A (p.Leu1894Ile)
|
rs2126522675
|
|
NM_007118.4(TRIO):c.5763+1G>T
|
|
|
NM_007118.4(TRIO):c.6092dup (p.Leu2031fs)
|
rs752676391
|
|
NM_007118.4(TRIO):c.6153+1G>A
|
rs1755124330
|
|
NM_007118.4(TRIO):c.651_652del (p.Arg217fs)
|
rs1736840999
|
|
NM_007118.4(TRIO):c.6554_6557del (p.Glu2185fs)
|
rs2126611738
|
|
NM_007118.4(TRIO):c.704del (p.Glu235fs)
|
rs2152284932
|
|
NM_007118.4(TRIO):c.7050del (p.Val2351fs)
|
|
|
NM_007118.4(TRIO):c.7317_7345del (p.Ser2440fs)
|
|
|
NM_007118.4(TRIO):c.757dup (p.Ala253fs)
|
|
|
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
|
|
|
NM_007198.4(PLPBP):c.199G>A (p.Glu67Lys)
|
|
|
NM_007198.4(PLPBP):c.389G>A (p.Trp130Ter)
|
|
|
NM_007198.4(PLPBP):c.695C>T (p.Ala232Val)
|
|
|
NM_007254.4(PNKP):c.103A>G (p.Arg35Gly)
|
|
|
NM_007254.4(PNKP):c.1126+1G>C
|
|
|
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)
|
rs786205207
|
|
NM_007254.4(PNKP):c.1296_1298+13del
|
|
|
NM_007254.4(PNKP):c.1298+1G>A
|
rs149614720
|
|
NM_007254.4(PNKP):c.1314_1317dup (p.Ala440fs)
|
|
|
NM_007254.4(PNKP):c.1385G>C (p.Arg462Pro)
|
rs376854895
|
|
NM_007254.4(PNKP):c.1386+1G>C
|
rs1057520630
|
|
NM_007254.4(PNKP):c.152-2A>C
|
|
|
NM_007254.4(PNKP):c.199-2A>G
|
rs1391913873
|
|
NM_007254.4(PNKP):c.286G>C (p.Val96Leu)
|
|
|
NM_007254.4(PNKP):c.302C>T (p.Pro101Leu)
|
rs587784367
|
|
NM_007254.4(PNKP):c.636+1G>C
|
rs1247055716
|
|
NM_007254.4(PNKP):c.721G>T (p.Glu241Ter)
|
rs982113263
|
|
NM_007254.4(PNKP):c.744+1G>C
|
|
|
NM_007254.4(PNKP):c.829dup (p.Thr277fs)
|
|
|
NM_007254.4(PNKP):c.865+1G>T
|
|
|
NM_007262.5(PARK7):c.191_192del (p.Glu64fs)
|
rs1553122929
|
|
NM_007262.5(PARK7):c.302T>C (p.Leu101Pro)
|
rs2151432401
|
|
NM_007262.5(PARK7):c.90+1dup
|
rs1578089802
|
|
NM_007289.4(MME):c.1095-2A>C
|
rs2108312675
|
|
NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter)
|
rs2147383715
|
|
NM_007325.5(GRIA3):c.1544G>A (p.Arg515His)
|
|
|
NM_007325.5(GRIA3):c.1949C>T (p.Ala650Val)
|
|
|
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr)
|
rs1057521721
|
|
NM_007325.5(GRIA3):c.1973T>C (p.Val658Ala)
|
|
|
NM_007325.5(GRIA3):c.2098G>A (p.Glu700Lys)
|
rs2045826576
|
|
NM_007325.5(GRIA3):c.307G>T (p.Gly103Ter)
|
|
|
NM_007327.4(GRIN1):c.1113+2T>C
|
|
|
NM_007327.4(GRIN1):c.1340-1del
|
|
|
NM_007327.4(GRIN1):c.1447A>C (p.Lys483Gln)
|
|
|
NM_007327.4(GRIN1):c.1467+2T>G
|
|
|
NM_007327.4(GRIN1):c.1592A>G (p.Lys531Arg)
|
|
|
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln)
|
rs1554770044
|
|
NM_007327.4(GRIN1):c.1645A>C (p.Ser549Arg)
|
rs1554770046
|
|
NM_007327.4(GRIN1):c.1667A>G (p.Gln556Arg)
|
rs1833594325
|
|
NM_007327.4(GRIN1):c.1744C>A (p.Arg582Ser)
|
rs1833598160
|
|
NM_007327.4(GRIN1):c.1847A>G (p.Asn616Ser)
|
rs1564363665
|
|
NM_007327.4(GRIN1):c.1850C>T (p.Ser617Phe)
|
rs2131298649
|
|
NM_007327.4(GRIN1):c.1852G>C (p.Gly618Arg)
|
rs1833614590
|
|
NM_007327.4(GRIN1):c.1858G>A (p.Gly620Arg)
|
rs797045047
|
|
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg)
|
rs797045047
|
|
NM_007327.4(GRIN1):c.1898G>T (p.Gly633Val)
|
|
|
NM_007327.4(GRIN1):c.1913G>C (p.Gly638Ala)
|
rs1393555703
|
|
NM_007327.4(GRIN1):c.1918G>C (p.Ala640Pro)
|
|
|
NM_007327.4(GRIN1):c.1921A>G (p.Met641Val)
|
rs2131299136
|
|
NM_007327.4(GRIN1):c.1922T>C (p.Met641Thr)
|
rs1588732344
|
|
NM_007327.4(GRIN1):c.1927A>G (p.Ile643Val)
|
rs1554770243
|
|
NM_007327.4(GRIN1):c.1931T>C (p.Val644Ala)
|
|
|
NM_007327.4(GRIN1):c.1939T>C (p.Tyr647His)
|
rs1833621750
|
|
NM_007327.4(GRIN1):c.1976G>A (p.Arg659Gln)
|
rs2131299400
|
|
NM_007327.4(GRIN1):c.2013+2T>G
|
|
|
NM_007327.4(GRIN1):c.2063C>A (p.Ser688Tyr)
|
rs1833635820
|
|
NM_007327.4(GRIN1):c.2171+1G>A
|
|
|
NM_007327.4(GRIN1):c.2231G>A (p.Cys744Tyr)
|
rs1554770444
|
|
NM_007327.4(GRIN1):c.2377G>T (p.Val793Phe)
|
|
|
NM_007327.4(GRIN1):c.2380C>G (p.Arg794Gly)
|
rs1423513108
|
|
NM_007327.4(GRIN1):c.2381G>A (p.Arg794Gln)
|
rs781053477
|
|
NM_007327.4(GRIN1):c.2381G>C (p.Arg794Pro)
|
|
|
NM_007327.4(GRIN1):c.2417C>A (p.Ala806Glu)
|
rs1554770589
|
|
NM_007327.4(GRIN1):c.2417C>T (p.Ala806Val)
|
rs1554770589
|
|
NM_007327.4(GRIN1):c.2420C>T (p.Thr807Ile)
|
rs1554770590
|
|
NM_007327.4(GRIN1):c.2444-2_2448del
|
|
|
NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu)
|
rs1833698535
|
|
NM_007327.4(GRIN1):c.2446G>T (p.Val816Phe)
|
|
|
NM_007327.4(GRIN1):c.2452A>C (p.Met818Leu)
|
rs1554770628
|
|
NM_007327.4(GRIN1):c.2453T>G (p.Met818Arg)
|
|
|
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln)
|
rs1588735834
|
|
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)
|
rs1554770667
|
|
NM_007327.4(GRIN1):c.2815T>G (p.Ter939Gly)
|
|
|
NM_007327.4(GRIN1):c.352G>A (p.Val118Met)
|
rs1588686286
|
|
NM_007327.4(GRIN1):c.421G>A (p.Val141Met)
|
rs1293947350
|
|
NM_007327.4(GRIN1):c.448G>A (p.Val150Met)
|
rs1187375556
|
|
NM_007327.4(GRIN1):c.679G>C (p.Asp227His)
|
|
|
NM_007327.4(GRIN1):c.969-1G>C
|
|
|
NM_007347.5(AP4E1):c.2234_2235dup (p.Thr746Ter)
|
rs1555462184
|
|
NM_007363.5(NONO):c.1191_1192del (p.Asn397fs)
|
rs2031508845
|
|
NM_007363.5(NONO):c.1242del (p.Gly415fs)
|
rs2148040741
|
|
NM_007363.5(NONO):c.276_288del (p.Lys92fs)
|
|
|
NM_007363.5(NONO):c.315_318del (p.His106fs)
|
rs2148033533
|
|
NM_007363.5(NONO):c.322_348+280del
|
rs2148033540
|
|
NM_007363.5(NONO):c.651-1G>C
|
rs2031456898
|
|
NM_012062.5(DNM1L):c.1049G>C (p.Gly350Ala)
|
|
|
NM_012062.5(DNM1L):c.1085G>A (p.Gly362Asp)
|
rs879255685
|
|
NM_012062.5(DNM1L):c.1087G>A (p.Gly363Ser)
|
rs1954520736
|
|
NM_012062.5(DNM1L):c.1108T>C (p.Phe370Leu)
|
rs1592661973
|
|
NM_012062.5(DNM1L):c.1135G>A (p.Glu379Lys)
|
rs1057518694
|
|
NM_012062.5(DNM1L):c.115A>C (p.Ser39Arg)
|
|
|
NM_012062.5(DNM1L):c.1247T>C (p.Leu416Pro)
|
|
|
NM_012062.5(DNM1L):c.1337G>T (p.Cys446Phe)
|
rs879253874
|
|
NM_012062.5(DNM1L):c.176C>T (p.Thr59Ile)
|
|
|
NM_012062.5(DNM1L):c.2072A>G (p.Tyr691Cys)
|
rs1565548029
|
|
NM_012062.5(DNM1L):c.2161C>T (p.Gln721Ter)
|
|
|
NM_012062.5(DNM1L):c.344C>G (p.Thr115Arg)
|
rs1952997134
|
|
NM_012062.5(DNM1L):c.428C>G (p.Thr143Arg)
|
|
|
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)
|
|
|
NM_012179.4(FBXO7):c.1183-2_1183-1del
|
|
|
NM_012179.4(FBXO7):c.1345_1347delinsTAA (p.Asp449Ter)
|
rs2146009225
|
|
NM_012179.4(FBXO7):c.418-1G>C
|
|
|
NM_012179.4(FBXO7):c.418-2A>G
|
|
|
NM_012179.4(FBXO7):c.418-2A>T
|
|
|
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del)
|
rs2148715376
|
|
NM_012199.5(AGO1):c.2252A>T (p.His751Leu)
|
rs2148725560
|
|
NM_012199.5(AGO1):c.2389A>T (p.Ile797Phe)
|
rs2148726029
|
|
NM_012199.5(AGO1):c.569T>G (p.Leu190Arg)
|
rs1645264815
|
|
NM_012199.5(AGO1):c.583G>A (p.Glu195Lys)
|
rs2148711374
|
|
NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)
|
rs2148711383
|
|
NM_012199.5(AGO1):c.650-2A>G
|
rs1645271555
|
|
NM_012199.5(AGO1):c.758G>A (p.Arg253His)
|
rs1645273962
|
|
NM_012199.5(AGO1):c.760G>A (p.Val254Ile)
|
rs1645274152
|
|
NM_012213.3(MLYCD):c.1059dup (p.Leu354fs)
|
rs1907323150
|
|
NM_012216.4(MID2):c.2070del (p.Phe691fs)
|
rs1933190705
|
|
NM_012281.3(KCND2):c.1215T>G (p.Ile405Met)
|
rs1273708047
|
|
NM_012309.5(SHANK2):c.2439+1G>A
|
rs2058899044
|
|
NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu)
|
rs1569234334
|
|
NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)
|
rs1554844486
|
|
NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)
|
rs1554846212
|
|
NM_012479.4(YWHAG):c.170G>A (p.Arg57His)
|
rs2115589045
|
|
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu)
|
rs1554616630
|
|
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys)
|
rs1554616628
|
|
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser)
|
rs1554616627
|
|
NM_012479.4(YWHAG):c.578C>T (p.Ala193Val)
|
|
|
NM_012479.4(YWHAG):c.628_642del (p.Thr210_Asp214del)
|
|
|
NM_012479.4(YWHAG):c.683A>T (p.Asp228Val)
|
rs1803513587
|
|
NM_013254.4(TBK1):c.2107G>T (p.Glu703Ter)
|
rs1565825132
|
|
NM_013275.6(ANKRD11):c.1009C>T (p.Gln337Ter)
|
rs2151766442
|
|
NM_013275.6(ANKRD11):c.1018dup (p.Thr340fs)
|
rs2151766359
|
|
NM_013275.6(ANKRD11):c.1063C>T (p.Gln355Ter)
|
|
|
NM_013275.6(ANKRD11):c.1119del (p.Glu374fs)
|
|
|
NM_013275.6(ANKRD11):c.1518_1536del (p.Leu507fs)
|
|
|
NM_013275.6(ANKRD11):c.1708_1711del (p.Thr571fs)
|
rs2151763094
|
|
NM_013275.6(ANKRD11):c.1861A>T (p.Lys621Ter)
|
rs2151762320
|
|
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
|
rs886041125
|
|
NM_013275.6(ANKRD11):c.1974_1977dup (p.Glu660fs)
|
|
|
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)
|
rs749201074
|
|
NM_013275.6(ANKRD11):c.2006A>C (p.Asp669Ala)
|
rs1597462279
|
|
NM_013275.6(ANKRD11):c.2063dup (p.His689fs)
|
|
|
NM_013275.6(ANKRD11):c.2089G>T (p.Glu697Ter)
|
rs2151761457
|
|
NM_013275.6(ANKRD11):c.2092_2096del (p.Glu698fs)
|
rs2034502951
|
|
NM_013275.6(ANKRD11):c.211_226+1del
|
|
|
NM_013275.6(ANKRD11):c.2161dup (p.Ile721fs)
|
|
|
NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)
|
rs886039734
|
|
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)
|
rs886041791
|
|
NM_013275.6(ANKRD11):c.2262_2265del (p.Glu755fs)
|
rs2034490973
|
|
NM_013275.6(ANKRD11):c.226G>A (p.Glu76Lys)
|
rs1555535454
|
|
NM_013275.6(ANKRD11):c.2297_2300del (p.Lys766fs)
|
rs2034487965
|
|
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)
|
rs1597461100
|
|
NM_013275.6(ANKRD11):c.2409_2412del (p.Glu805fs)
|
rs886039902
|
|
NM_013275.6(ANKRD11):c.2499_2502del (p.Ser834fs)
|
|
|
NM_013275.6(ANKRD11):c.2609_2612dup (p.Asp871fs)
|
rs1597459998
|
|
NM_013275.6(ANKRD11):c.2615_2616del (p.Ser872fs)
|
rs2034464204
|
|
NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs)
|
rs2034464059
|
|
NM_013275.6(ANKRD11):c.2647del (p.Glu883fs)
|
rs2151758908
|
|
NM_013275.6(ANKRD11):c.277_283dup (p.Gly95fs)
|
|
|
NM_013275.6(ANKRD11):c.2853_2856del (p.Lys952fs)
|
rs2151757918
|
|
NM_013275.6(ANKRD11):c.291del (p.Phe98fs)
|
|
|
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter)
|
rs752918694
|
|
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter)
|
rs1064793539
|
|
NM_013275.6(ANKRD11):c.3201dup (p.Asp1068fs)
|
|
|
NM_013275.6(ANKRD11):c.3228_3232del (p.Arg1076fs)
|
|
|
NM_013275.6(ANKRD11):c.3268del (p.Ala1090fs)
|
|
|
NM_013275.6(ANKRD11):c.3547_3548del (p.Asp1183fs)
|
|
|
NM_013275.6(ANKRD11):c.3597_3598del (p.Lys1200fs)
|
|
|
NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter)
|
rs1555528356
|
|
NM_013275.6(ANKRD11):c.3787_3788del (p.Glu1263fs)
|
rs2151753260
|
|
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)
|
rs2034353033
|
|
NM_013275.6(ANKRD11):c.4140_4141del (p.Tyr1380_Lys1381delinsTer)
|
|
|
NM_013275.6(ANKRD11):c.4288A>T (p.Lys1430Ter)
|
rs1555527929
|
|
NM_013275.6(ANKRD11):c.4306_4307del (p.Glu1436fs)
|
|
|
NM_013275.6(ANKRD11):c.4333_4336del (p.Leu1445fs)
|
|
|
NM_013275.6(ANKRD11):c.4381_4382del (p.Lys1461fs)
|
rs2034308476
|
|
NM_013275.6(ANKRD11):c.4554del (p.Arg1519fs)
|
rs2034289118
|
|
NM_013275.6(ANKRD11):c.4634del (p.Pro1545fs)
|
|
|
NM_013275.6(ANKRD11):c.496G>T (p.Glu166Ter)
|
|
|
NM_013275.6(ANKRD11):c.5053del (p.His1684_Met1685insTer)
|
rs1555527341
|
|
NM_013275.6(ANKRD11):c.5089C>T (p.Gln1697Ter)
|
|
|
NM_013275.6(ANKRD11):c.5146G>T (p.Glu1716Ter)
|
|
|
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter)
|
rs2151745705
|
|
NM_013275.6(ANKRD11):c.5558dup (p.Asp1854fs)
|
|
|
NM_013275.6(ANKRD11):c.5865del (p.Glu1955fs)
|
rs2034142706
|
|
NM_013275.6(ANKRD11):c.5974A>C (p.Lys1992Gln)
|
rs763207005
|
|
NM_013275.6(ANKRD11):c.6101del (p.Leu2034fs)
|
|
|
NM_013275.6(ANKRD11):c.626G>A (p.Cys209Tyr)
|
|
|
NM_013275.6(ANKRD11):c.637del (p.Tyr213fs)
|
|
|
NM_013275.6(ANKRD11):c.6469del (p.Glu2157fs)
|
rs2034054366
|
|
NM_013275.6(ANKRD11):c.6685G>T (p.Glu2229Ter)
|
|
|
NM_013275.6(ANKRD11):c.6739_6740insCC (p.Glu2247fs)
|
|
|
NM_013275.6(ANKRD11):c.6766C>T (p.Gln2256Ter)
|
rs1168428802
|
|
NM_013275.6(ANKRD11):c.6833_6834del (p.Thr2278fs)
|
rs2151733047
|
|
NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)
|
|
|
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)
|
rs1555525088
|
|
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter)
|
rs2151730563
|
|
NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter)
|
rs863225296
|
|
NM_013275.6(ANKRD11):c.7225G>T (p.Glu2409Ter)
|
|
|
NM_013275.6(ANKRD11):c.7234C>T (p.Gln2412Ter)
|
rs886042019
|
|
NM_013275.6(ANKRD11):c.7267A>T (p.Lys2423Ter)
|
|
|
NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly)
|
rs1064795497
|
|
NM_013275.6(ANKRD11):c.7355G>C (p.Arg2452Pro)
|
rs781584370
|
|
NM_013275.6(ANKRD11):c.7407C>G (p.Tyr2469Ter)
|
rs370673579
|
|
NM_013275.6(ANKRD11):c.744G>C (p.Lys248Asn)
|
rs2151783410
|
|
NM_013275.6(ANKRD11):c.7523A>T (p.Gln2508Leu)
|
rs2151703297
|
|
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)
|
rs2033536147
|
|
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)
|
rs2033535934
|
|
NM_013275.6(ANKRD11):c.7544T>C (p.Leu2515Pro)
|
rs2151703162
|
|
NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys)
|
rs2033533123
|
|
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp)
|
rs2151701893
|
|
NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln)
|
rs2033511172
|
|
NM_013275.6(ANKRD11):c.7663T>C (p.Cys2555Arg)
|
|
|
NM_013275.6(ANKRD11):c.7684G>A (p.Glu2562Lys)
|
rs2151701503
|
|
NM_013275.6(ANKRD11):c.7714-1G>C
|
rs2151676035
|
|
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)
|
|
|
NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp)
|
rs1555521799
|
|
NM_013275.6(ANKRD11):c.7765T>C (p.Ser2589Pro)
|
rs2151675756
|
|
NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter)
|
rs2033085976
|
|
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg)
|
rs1131691512
|
|
NM_013275.6(ANKRD11):c.7944C>A (p.Tyr2648Ter)
|
rs972669347
|
|
NM_013275.6(ANKRD11):c.893-2A>G
|
rs2151766883
|
|
NM_013275.6(ANKRD11):c.977del (p.Gly326fs)
|
rs1555529979
|
|
NM_013436.5(NCKAP1):c.155del (p.Asn52fs)
|
|
|
NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)
|
rs1589088690
|
|
NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)
|
rs1554823375
|
|
NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)
|
rs1589088702
|
|
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)
|
rs1589088703
|
|
NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)
|
|
|
NM_014053.4(FLVCR1):c.375G>A (p.Trp125Ter)
|
|
|
NM_014053.4(FLVCR1):c.755del (p.Gly252fs)
|
rs773064101
|
|
NM_014141.6(CNTNAP2):c.1778-1G>C
|
rs1396313317
|
|
NM_014141.6(CNTNAP2):c.97+3A>T
|
rs1584757170
|
|
NM_014159.7(SETD2):c.4997A>G (p.Tyr1666Cys)
|
rs1559720382
|
|
NM_014159.7(SETD2):c.5122C>T (p.Arg1708Ter)
|
|
|
NM_014168.4(METTL5):c.406+1_406+2insATACAAATTC
|
|
|
NM_014168.4(METTL5):c.541+1G>C
|
rs1467526653
|
|
NM_014191.4(SCN8A):c.615-1G>A
|
rs1555217342
|
|
NM_014191.4(SCN8A):c.615-2A>C
|
rs1060504137
|
|
NM_014191.4(SCN8A):c.632T>C (p.Val211Ala)
|
rs1057518487
|
|
NM_014191.4(SCN8A):c.647T>G (p.Val216Gly)
|
rs879255696
|
|
NM_014191.4(SCN8A):c.668G>C (p.Arg223Thr)
|
|
|
NM_014191.4(SCN8A):c.676A>G (p.Arg226Gly)
|
rs1592380687
|
|
NM_014191.4(SCN8A):c.697G>A (p.Val233Ile)
|
rs1592380699
|
|
NM_014236.4(GNPAT):c.1058dup (p.Tyr353Ter)
|
|
|
NM_014236.4(GNPAT):c.1121del (p.Glu374fs)
|
|
|
NM_014236.4(GNPAT):c.1279+1G>T
|
|
|
NM_014236.4(GNPAT):c.1297G>T (p.Glu433Ter)
|
|
|
NM_014236.4(GNPAT):c.1387del (p.Glu463fs)
|
|
|
NM_014236.4(GNPAT):c.1482del (p.Leu494_Val495insTer)
|
|
|
NM_014236.4(GNPAT):c.1621del (p.Tyr541fs)
|
|
|
NM_014236.4(GNPAT):c.1622dup (p.Tyr541Ter)
|
|
|
NM_014236.4(GNPAT):c.1718_1719del (p.Leu572_Phe573insTer)
|
|
|
NM_014236.4(GNPAT):c.1743+1G>T
|
|
|
NM_014236.4(GNPAT):c.1758C>G (p.Tyr586Ter)
|
|
|
NM_014236.4(GNPAT):c.180T>A (p.Tyr60Ter)
|
|
|
NM_014236.4(GNPAT):c.26_27del (p.Ser9fs)
|
|
|
NM_014236.4(GNPAT):c.298C>T (p.Arg100Ter)
|
rs1685194348
|
|
NM_014236.4(GNPAT):c.442C>T (p.Gln148Ter)
|
rs1571946866
|
|
NM_014236.4(GNPAT):c.574del (p.Leu192fs)
|
|
|
NM_014236.4(GNPAT):c.807_808del (p.Glu271fs)
|
|
|
NM_014236.4(GNPAT):c.874_877del (p.Leu292fs)
|
|
|
NM_014236.4(GNPAT):c.913G>T (p.Glu305Ter)
|
|
|
NM_014271.4(IL1RAPL1):c.1075del (p.Glu359fs)
|
rs2147251555
|
|
NM_014271.4(IL1RAPL1):c.1227dup (p.Ser410fs)
|
rs2147258610
|
|
NM_014271.4(IL1RAPL1):c.1460G>A (p.Trp487Ter)
|
rs122461161
|
|
NM_014271.4(IL1RAPL1):c.148C>T (p.Arg50Ter)
|
rs781674023
|
|
NM_014271.4(IL1RAPL1):c.1891_1897del (p.Asp631fs)
|
rs2147259265
|
|
NM_014271.4(IL1RAPL1):c.366_379delinsGTAACAAAG (p.Asn122_Met127delinsLysTer)
|
|
|
NM_014271.4(IL1RAPL1):c.697_698del (p.Val233fs)
|
rs1933958646
|
|
NM_014284.3(NCDN):c.1297G>C (p.Glu433Gln)
|
rs376408289
|
|
NM_014284.3(NCDN):c.1433G>A (p.Arg478Gln)
|
rs1305972382
|
|
NM_014284.3(NCDN):c.1492T>C (p.Trp498Arg)
|
rs2148539394
|
|
NM_014284.3(NCDN):c.1955C>T (p.Pro652Leu)
|
rs762580458
|
|
NM_014334.4(FRRS1L):c.239-2A>G
|
rs1831307625
|
|
NM_014334.4(FRRS1L):c.310A>G (p.Lys104Glu)
|
|
|
NM_014334.4(FRRS1L):c.463-2A>G
|
rs1564229228
|
|
NM_014334.4(FRRS1L):c.486C>A (p.Cys162Ter)
|
rs779716535
|
|
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)
|
rs878853282
|
|
NM_014334.4(FRRS1L):c.69del (p.Ala24fs)
|
|
|
NM_014363.5(SACS):c.[11624G>A];[7276C>T]
|
|
|
NM_014363.6(SACS):c.10024_10025del (p.Ser3342fs)
|
rs1555250395
|
|
NM_014363.6(SACS):c.10050del (p.His3351fs)
|
rs1555250383
|
|
NM_014363.6(SACS):c.10055_10056del (p.Thr3352fs)
|
|
|
NM_014363.6(SACS):c.10087A>T (p.Lys3363Ter)
|
rs1555250359
|
|
NM_014363.6(SACS):c.10090del (p.Ala3364fs)
|
rs1057517383
|
|
NM_014363.6(SACS):c.10103_10104insTATAGATT (p.Met3368fs)
|
rs2137577962
|
|
NM_014363.6(SACS):c.10379_10383del (p.Lys3460fs)
|
rs1555250255
|
|
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)
|
rs786204416
|
|
NM_014363.6(SACS):c.10497C>A (p.Tyr3499Ter)
|
rs755186798
|
|
NM_014363.6(SACS):c.10501_10505del (p.Leu3500_Lys3501insTer)
|
rs1555250191
|
|
NM_014363.6(SACS):c.10536_10537del (p.Glu3512fs)
|
|
|
NM_014363.6(SACS):c.10536del (p.Ile3513fs)
|
rs1555250183
|
|
NM_014363.6(SACS):c.10546C>T (p.Gln3516Ter)
|
rs1593123432
|
|
NM_014363.6(SACS):c.10645G>T (p.Glu3549Ter)
|
|
|
NM_014363.6(SACS):c.10686_10689del (p.Phe3562fs)
|
rs779338945
|
|
NM_014363.6(SACS):c.10804C>T (p.Gln3602Ter)
|
rs1057517002
|
|
NM_014363.6(SACS):c.10822_10823del (p.Ser3608fs)
|
rs1555250082
|
|
NM_014363.6(SACS):c.10854del (p.Glu3619fs)
|
rs1057516773
|
|
NM_014363.6(SACS):c.1085del (p.Lys362fs)
|
rs1057517242
|
|
NM_014363.6(SACS):c.10864C>T (p.Gln3622Ter)
|
rs1057516578
|
|
NM_014363.6(SACS):c.10900C>T (p.Gln3634Ter)
|
|
|
NM_014363.6(SACS):c.10944_10947dup (p.Leu3650fs)
|
|
|
NM_014363.6(SACS):c.10993_11002dup (p.Pro3668fs)
|
rs1555250022
|
|
NM_014363.6(SACS):c.11039_11040insTA (p.Phe3682fs)
|
rs1555250016
|
|
NM_014363.6(SACS):c.11042dup (p.Phe3682fs)
|
rs756597098
|
|
NM_014363.6(SACS):c.1105_1106del (p.Thr369fs)
|
|
|
NM_014363.6(SACS):c.11081dup (p.Cys3694fs)
|
rs1057516856
|
|
NM_014363.6(SACS):c.11092C>T (p.Gln3698Ter)
|
rs1883571494
|
|
NM_014363.6(SACS):c.11109del (p.Cys3704fs)
|
rs2137569412
|
|
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer)
|
rs2137569225
|
|
NM_014363.6(SACS):c.11149_11150insT (p.Lys3717fs)
|
rs1555249977
|
|
NM_014363.6(SACS):c.11179C>T (p.Gln3727Ter)
|
rs1555249966
|
|
NM_014363.6(SACS):c.11185C>T (p.Gln3729Ter)
|
rs1057516398
|
|
NM_014363.6(SACS):c.11191del (p.Glu3731fs)
|
|
|
NM_014363.6(SACS):c.11247_11250del (p.Asn3750fs)
|
rs753205260
|
|
NM_014363.6(SACS):c.11261del (p.Asn3754fs)
|
|
|
NM_014363.6(SACS):c.1126_1127del (p.Asn376fs)
|
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
|
|
NM_014363.6(SACS):c.11282del (p.Leu3761fs)
|
rs2137567996
|
|
NM_014363.6(SACS):c.11286_11287del (p.Asp3762fs)
|
|
|
NM_014363.6(SACS):c.11302del (p.Thr3768fs)
|
|
|
NM_014363.6(SACS):c.11361dup (p.Arg3788fs)
|
|
|
NM_014363.6(SACS):c.11373dup (p.Arg3792fs)
|
rs1555249904
|
|
NM_014363.6(SACS):c.11374C>T (p.Arg3792Ter)
|
rs565203731
|
|
NM_014363.6(SACS):c.1137dup (p.Glu380fs)
|
rs1057516987
|
|
NM_014363.6(SACS):c.11406_11409del (p.Trp3803fs)
|
|
|
NM_014363.6(SACS):c.11428dup (p.Glu3810fs)
|
rs1555249894
|
|
NM_014363.6(SACS):c.11506_11521del (p.His3836fs)
|
rs1555249878
|
|
NM_014363.6(SACS):c.11509C>T (p.Gln3837Ter)
|
rs1555249881
|
|
NM_014363.6(SACS):c.11627_11628del (p.Thr3876fs)
|
rs1555249826
|
|
NM_014363.6(SACS):c.1162C>T (p.Gln388Ter)
|
|
|
NM_014363.6(SACS):c.11713del (p.Ala3906fs)
|
rs1555249797
|
|
NM_014363.6(SACS):c.11724C>G (p.Tyr3908Ter)
|
rs745740932
|
|
NM_014363.6(SACS):c.11731del (p.Ser3911fs)
|
rs1057517232
|
|
NM_014363.6(SACS):c.11772dup (p.Asp3925Ter)
|
rs1555249789
|
|
NM_014363.6(SACS):c.1178T>A (p.Leu393Ter)
|
|
|
NM_014363.6(SACS):c.11877dup (p.Lys3960Ter)
|
rs1555249766
|
|
NM_014363.6(SACS):c.11914C>T (p.Arg3972Ter)
|
rs781491486
|
|
NM_014363.6(SACS):c.11935G>T (p.Glu3979Ter)
|
rs1555249745
|
|
NM_014363.6(SACS):c.11946del (p.Asp3983fs)
|
|
|
NM_014363.6(SACS):c.12011_12019del (p.Leu4004_Leu4006del)
|
rs2137561854
|
|
NM_014363.6(SACS):c.12054del (p.Ile4018_Met4019insTer)
|
rs1555249695
|
|
NM_014363.6(SACS):c.12147C>A (p.Cys4049Ter)
|
|
|
NM_014363.6(SACS):c.12150del (p.Phe4050fs)
|
rs1555249662
|
|
NM_014363.6(SACS):c.12218_12219del (p.Phe4073fs)
|
rs1555249648
|
|
NM_014363.6(SACS):c.12232C>T (p.Arg4078Ter)
|
rs141315518
|
|
NM_014363.6(SACS):c.1228_1229del (p.Leu410fs)
|
rs1057516365
|
|
NM_014363.6(SACS):c.1229T>A (p.Leu410Ter)
|
|
|
NM_014363.6(SACS):c.12323C>G (p.Ser4108Ter)
|
rs1555249633
|
|
NM_014363.6(SACS):c.12373G>T (p.Gly4125Ter)
|
|
|
NM_014363.6(SACS):c.12378C>A (p.Cys4126Ter)
|
|
|
NM_014363.6(SACS):c.12407_12411del (p.Leu4136fs)
|
rs1555249607
|
|
NM_014363.6(SACS):c.12434_12435del (p.Ser4145fs)
|
rs1555249599
|
|
NM_014363.6(SACS):c.12471dup (p.Thr4158fs)
|
|
|
NM_014363.6(SACS):c.12523_12541del (p.Val4175fs)
|
|
|
NM_014363.6(SACS):c.12540del (p.Glu4180fs)
|
rs1057516347
|
|
NM_014363.6(SACS):c.12622C>T (p.Gln4208Ter)
|
rs1555249555
|
|
NM_014363.6(SACS):c.12707_12708del (p.Ile4236fs)
|
|
|
NM_014363.6(SACS):c.12766del (p.Asp4256fs)
|
rs1555249479
|
|
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs)
|
rs1057516406
|
|
NM_014363.6(SACS):c.12770_12917del (p.Ser4257fs)
|
|
|
NM_014363.6(SACS):c.12779del (p.Ser4260fs)
|
rs1555249460
|
|
NM_014363.6(SACS):c.12795_12798del (p.Thr4266fs)
|
|
|
NM_014363.6(SACS):c.12835_12836del (p.Leu4279fs)
|
rs1555249425
|
|
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs)
|
rs786204628
|
|
NM_014363.6(SACS):c.12860del (p.Lys4287fs)
|
|
|
NM_014363.6(SACS):c.12923_12927del (p.Lys4308fs)
|
rs1057517294
|
|
NM_014363.6(SACS):c.12980del (p.Lys4327fs)
|
rs1555249371
|
|
NM_014363.6(SACS):c.13112dup (p.Asn4371fs)
|
|
|
NM_014363.6(SACS):c.13120_13121del (p.Arg4374fs)
|
rs1555249338
|
|
NM_014363.6(SACS):c.13132C>T (p.Arg4378Ter)
|
rs747868017
|
|
NM_014363.6(SACS):c.13178_13185dup (p.Arg4396fs)
|
rs1555249326
|
|
NM_014363.6(SACS):c.13252_13253del (p.Glu4418fs)
|
rs1883405453
|
|
NM_014363.6(SACS):c.13276C>T (p.Gln4426Ter)
|
rs1555249276
|
|
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter)
|
rs1057517123
|
|
NM_014363.6(SACS):c.13284C>A (p.Tyr4428Ter)
|
rs753277514
|
|
NM_014363.6(SACS):c.13350G>A (p.Trp4450Ter)
|
|
|
NM_014363.6(SACS):c.13405G>C (p.Ala4469Pro)
|
rs745961541
|
|
NM_014363.6(SACS):c.13433dup (p.Tyr4478Ter)
|
|
|
NM_014363.6(SACS):c.13614C>A (p.Tyr4538Ter)
|
rs927804920
|
|
NM_014363.6(SACS):c.13615C>T (p.Pro4539Ser)
|
rs1555249106
|
|
NM_014363.6(SACS):c.1437G>A (p.Trp479Ter)
|
|
|
NM_014363.6(SACS):c.1455G>A (p.Trp485Ter)
|
|
|
NM_014363.6(SACS):c.155G>A (p.Trp52Ter)
|
|
|
NM_014363.6(SACS):c.1569_1570delinsCTGTCTCTTATACACA (p.Phe524fs)
|
|
|
NM_014363.6(SACS):c.1596T>A (p.Tyr532Ter)
|
rs2137720760
|
|
NM_014363.6(SACS):c.1636C>T (p.Gln546Ter)
|
|
|
NM_014363.6(SACS):c.1681del (p.Ala560_Val561insTer)
|
rs1057516543
|
|
NM_014363.6(SACS):c.171+1G>A
|
|
|
NM_014363.6(SACS):c.1716_1717del (p.Glu573fs)
|
|
|
NM_014363.6(SACS):c.172-2A>G
|
|
|
NM_014363.6(SACS):c.1807A>T (p.Lys603Ter)
|
|
|
NM_014363.6(SACS):c.1814C>T (p.Pro605Leu)
|
rs2137718533
|
|
NM_014363.6(SACS):c.1839_1840insGCGTCACCTTC (p.Leu614fs)
|
|
|
NM_014363.6(SACS):c.1894C>T (p.Arg632Trp)
|
|
|
NM_014363.6(SACS):c.1929T>A (p.Cys643Ter)
|
|
|
NM_014363.6(SACS):c.192_193delinsA (p.Gly65fs)
|
|
|
NM_014363.6(SACS):c.1965_1966del (p.Leu655_Ser656insTer)
|
|
|
NM_014363.6(SACS):c.1968_1969del (p.Asp657fs)
|
|
|
NM_014363.6(SACS):c.2076del (p.Ser693fs)
|
rs1057516224
|
|
NM_014363.6(SACS):c.2176C>T (p.Gln726Ter)
|
|
|
NM_014363.6(SACS):c.2182C>T (p.Arg728Ter)
|
rs752059006
|
|
NM_014363.6(SACS):c.2185+1G>T
|
|
|
NM_014363.6(SACS):c.2186-2A>G
|
rs1057516554
|
|
NM_014363.6(SACS):c.2189_2190delinsT (p.Arg730fs)
|
|
|
NM_014363.6(SACS):c.2224C>T (p.Arg742Ter)
|
rs1057517285
|
|
NM_014363.6(SACS):c.2287C>T (p.Gln763Ter)
|
rs1555252953
|
|
NM_014363.6(SACS):c.2291G>A (p.Trp764Ter)
|
|
|
NM_014363.6(SACS):c.2329dup (p.Ser777fs)
|
rs1555252944
|
|
NM_014363.6(SACS):c.2330C>A (p.Ser777Ter)
|
rs1057517437
|
|
NM_014363.6(SACS):c.2396_2399dup (p.Met800fs)
|
|
|
NM_014363.6(SACS):c.239C>G (p.Ser80Ter)
|
|
|
NM_014363.6(SACS):c.23G>A (p.Trp8Ter)
|
rs1871684539
|
|
NM_014363.6(SACS):c.2434C>T (p.Gln812Ter)
|
rs1555252929
|
|
NM_014363.6(SACS):c.2438_2439del (p.Thr813fs)
|
rs1555252928
|
|
NM_014363.6(SACS):c.2451_2452insT (p.Ile818fs)
|
rs1555252926
|
|
NM_014363.6(SACS):c.2503C>T (p.Gln835Ter)
|
|
|
NM_014363.6(SACS):c.2533C>T (p.Gln845Ter)
|
rs1555252876
|
|
NM_014363.6(SACS):c.2564T>G (p.Leu855Ter)
|
rs142037771
|
|
NM_014363.6(SACS):c.257del (p.Gly86fs)
|
|
|
NM_014363.6(SACS):c.25_27delinsTT (p.Val9fs)
|
|
|
NM_014363.6(SACS):c.2620del (p.Ser874fs)
|
|
|
NM_014363.6(SACS):c.2627_2631del (p.Val876fs)
|
rs1555252844
|
|
NM_014363.6(SACS):c.2629_2630dup (p.Leu877fs)
|
rs1057516829
|
|
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)
|
rs1555255676
|
|
NM_014363.6(SACS):c.2630T>A (p.Leu877Ter)
|
|
|
NM_014363.6(SACS):c.2699_2700del (p.Lys900fs)
|
rs1167474602
|
|
NM_014363.6(SACS):c.2829dup (p.Leu944fs)
|
rs1869162207
|
|
NM_014363.6(SACS):c.2863A>T (p.Lys955Ter)
|
rs1555252786
|
|
NM_014363.6(SACS):c.2870del (p.Pro957fs)
|
rs1057516624
|
|
NM_014363.6(SACS):c.2886_2887del (p.Ser963fs)
|
rs1326359185
|
|
NM_014363.6(SACS):c.2913_2914dup (p.Glu972fs)
|
rs1057517034
|
|
NM_014363.6(SACS):c.2987T>G (p.Leu996Ter)
|
rs1450257625
|
|
NM_014363.6(SACS):c.29del (p.Pro10fs)
|
rs1057516837
|
|
NM_014363.6(SACS):c.2T>C (p.Met1Thr)
|
rs1417057515
|
|
NM_014363.6(SACS):c.3130C>T (p.Gln1044Ter)
|
|
|
NM_014363.6(SACS):c.3159_3160del (p.Leu1053_Phe1054insTer)
|
rs2137637877
|
|
NM_014363.6(SACS):c.3195_3196del (p.Phe1065fs)
|
rs1057516551
|
|
NM_014363.6(SACS):c.3218dup (p.Pro1075fs)
|
|
|
NM_014363.6(SACS):c.3328dup (p.Ile1110fs)
|
rs770866403
|
|
NM_014363.6(SACS):c.3356del (p.Pro1119fs)
|
rs1057517039
|
|
NM_014363.6(SACS):c.3427C>T (p.Gln1143Ter)
|
rs144267558
|
|
NM_014363.6(SACS):c.343A>T (p.Lys115Ter)
|
|
|
NM_014363.6(SACS):c.3457A>T (p.Lys1153Ter)
|
rs1555252634
|
|
NM_014363.6(SACS):c.351_354del (p.Leu117fs)
|
|
|
NM_014363.6(SACS):c.3523_3527del (p.Gly1175fs)
|
rs1555252623
|
|
NM_014363.6(SACS):c.3556dup (p.Met1186fs)
|
rs1555252611
|
|
NM_014363.6(SACS):c.3557del (p.Met1186fs)
|
|
|
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro)
|
rs727503785
|
|
NM_014363.6(SACS):c.3633del (p.Ala1212fs)
|
rs1555252587
|
|
NM_014363.6(SACS):c.3674T>G (p.Leu1225Ter)
|
rs959856535
|
|
NM_014363.6(SACS):c.3684dup (p.Lys1229Ter)
|
|
|
NM_014363.6(SACS):c.382_383del (p.Glu128fs)
|
rs757179309
|
|
NM_014363.6(SACS):c.3831_3832dup (p.Val1278fs)
|
rs1555252545
|
|
NM_014363.6(SACS):c.3836G>A (p.Trp1279Ter)
|
rs756963289
|
|
NM_014363.6(SACS):c.388A>T (p.Lys130Ter)
|
|
|
NM_014363.6(SACS):c.3901C>T (p.Gln1301Ter)
|
rs1555252531
|
|
NM_014363.6(SACS):c.3946C>T (p.Gln1316Ter)
|
|
|
NM_014363.6(SACS):c.3978_3982del (p.Glu1326fs)
|
rs1555252518
|
|
NM_014363.6(SACS):c.4039del (p.Leu1347fs)
|
rs1057516222
|
|
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter)
|
rs1057516779
|
|
NM_014363.6(SACS):c.4168del (p.Ile1391fs)
|
rs1555252465
|
|
NM_014363.6(SACS):c.4199_4200insAACATTAATGTTTAATG (p.Tyr1400Ter)
|
rs1555252458
|
|
NM_014363.6(SACS):c.4232T>G (p.Leu1411Ter)
|
rs867249938
|
|
NM_014363.6(SACS):c.4233dup (p.Leu1412fs)
|
rs1555252448
|
|
NM_014363.6(SACS):c.4298G>A (p.Trp1433Ter)
|
rs1057516930
|
|
NM_014363.6(SACS):c.4299G>A (p.Trp1433Ter)
|
rs768209419
|
|
NM_014363.6(SACS):c.4385dup (p.Arg1463fs)
|
rs1555252388
|
|
NM_014363.6(SACS):c.4424C>A (p.Ser1475Ter)
|
|
|
NM_014363.6(SACS):c.4438G>T (p.Glu1480Ter)
|
|
|
NM_014363.6(SACS):c.4465_4471del (p.Asn1489fs)
|
rs1057516294
|
|
NM_014363.6(SACS):c.4495dup (p.Met1499fs)
|
rs1555252359
|
|
NM_014363.6(SACS):c.4521_4522del (p.Asn1508fs)
|
|
|
NM_014363.6(SACS):c.4565_4568del (p.Leu1522fs)
|
rs1555252349
|
|
NM_014363.6(SACS):c.4593dup (p.Asp1532fs)
|
rs780197970
|
|
NM_014363.6(SACS):c.4684del (p.Ser1562fs)
|
rs1275667662
|
|
NM_014363.6(SACS):c.468_469insG (p.Tyr157fs)
|
rs1057516820
|
|
NM_014363.6(SACS):c.470_471del (p.Tyr157fs)
|
rs1444216187
|
|
NM_014363.6(SACS):c.4716del (p.Ile1572_Met1573insTer)
|
|
|
NM_014363.6(SACS):c.4723C>T (p.Arg1575Trp)
|
|
|
NM_014363.6(SACS):c.4730dup (p.Met1578fs)
|
|
|
NM_014363.6(SACS):c.475T>G (p.Tyr159Asp)
|
rs1305721973
|
|
NM_014363.6(SACS):c.4760A>G (p.His1587Arg)
|
|
|
NM_014363.6(SACS):c.4760del (p.His1587fs)
|
rs1057516285
|
|
NM_014363.6(SACS):c.4762_4763del (p.Ile1588fs)
|
|
|
NM_014363.6(SACS):c.4783_4787del (p.Lys1595fs)
|
|
|
NM_014363.6(SACS):c.4811G>A (p.Trp1604Ter)
|
|
|
NM_014363.6(SACS):c.4877_4880del (p.Gly1626fs)
|
rs757872635
|
|
NM_014363.6(SACS):c.4884del (p.Gln1628fs)
|
|
|
NM_014363.6(SACS):c.4894_4897del (p.Leu1631_Thr1632insTer)
|
rs1057516580
|
|
NM_014363.6(SACS):c.4934G>C (p.Arg1645Pro)
|
|
|
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)
|
|
|
NM_014363.6(SACS):c.497del (p.Pro166fs)
|
|
|
NM_014363.6(SACS):c.5008_5010delinsGTAGATGAATATCTACAATTGTGGATTGTATTTAG (p.Tyr1670fs)
|
|
|
NM_014363.6(SACS):c.5010T>G (p.Tyr1670Ter)
|
rs1459899547
|
|
NM_014363.6(SACS):c.5037_5038del (p.Cys1679fs)
|
rs1868917066
|
|
NM_014363.6(SACS):c.5065_5066del (p.Ser1689fs)
|
rs1372213267
|
|
NM_014363.6(SACS):c.5073_5074dup (p.Ser1692fs)
|
rs1057517305
|
|
NM_014363.6(SACS):c.5075C>A (p.Ser1692Ter)
|
rs1555252184
|
|
NM_014363.6(SACS):c.5195del (p.Val1731_Leu1732insTer)
|
|
|
NM_014363.6(SACS):c.520G>T (p.Glu174Ter)
|
rs2137742889
|
|
NM_014363.6(SACS):c.5238dup (p.Lys1747Ter)
|
rs1555252148
|
|
NM_014363.6(SACS):c.5281C>T (p.Gln1761Ter)
|
rs1555252142
|
|
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
|
|
|
NM_014363.6(SACS):c.529A>T (p.Arg177Ter)
|
|
|
NM_014363.6(SACS):c.5379del (p.Phe1793fs)
|
rs1057517297
|
|
NM_014363.6(SACS):c.5402C>G (p.Ser1801Ter)
|
|
|
NM_014363.6(SACS):c.5405_5408del (p.Lys1802fs)
|
|
|
NM_014363.6(SACS):c.5414C>G (p.Ser1805Ter)
|
rs1555252113
|
|
NM_014363.6(SACS):c.542del (p.Lys181fs)
|
|
|
NM_014363.6(SACS):c.5440_5449del (p.Glu1814fs)
|
rs1566067485
|
|
NM_014363.6(SACS):c.5469C>A (p.Cys1823Ter)
|
rs1057517172
|
|
NM_014363.6(SACS):c.5492del (p.Lys1831fs)
|
rs1868862742
|
|
NM_014363.6(SACS):c.5515A>T (p.Arg1839Ter)
|
|
|
NM_014363.6(SACS):c.554_555del (p.Leu185fs)
|
|
|
NM_014363.6(SACS):c.5598_5599del (p.Ile1867fs)
|
rs1555252086
|
|
NM_014363.6(SACS):c.5618_5619del (p.Tyr1873fs)
|
rs1188844823
|
|
NM_014363.6(SACS):c.563_564del (p.Gly188fs)
|
|
|
NM_014363.6(SACS):c.5692G>T (p.Glu1898Ter)
|
rs2137616679
|
|
NM_014363.6(SACS):c.5707_5708del (p.Asp1903fs)
|
rs1593129673
|
|
NM_014363.6(SACS):c.5719del (p.Arg1907fs)
|
rs1555252055
|
|
NM_014363.6(SACS):c.5744_5745del (p.His1915fs)
|
rs1057517138
|
|
NM_014363.6(SACS):c.5764_5767del (p.Leu1922fs)
|
rs759166250
|
|
NM_014363.6(SACS):c.5784dup (p.Arg1929fs)
|
rs1057517099
|
|
NM_014363.6(SACS):c.579del (p.Phe194fs)
|
|
|
NM_014363.6(SACS):c.5809dup (p.Leu1937fs)
|
|
|
NM_014363.6(SACS):c.5919del (p.Glu1974fs)
|
rs1555251990
|
|
NM_014363.6(SACS):c.5972dup (p.Arg1992fs)
|
rs2137613912
|
|
NM_014363.6(SACS):c.5990_5991del (p.Ser1997fs)
|
rs1555251963
|
|
NM_014363.6(SACS):c.6001dup (p.Arg2001fs)
|
rs1555251960
|
|
NM_014363.6(SACS):c.604+1G>A
|
rs1555254734
|
|
NM_014363.6(SACS):c.604+1_604+4del
|
|
|
NM_014363.6(SACS):c.6045_6049del (p.Tyr2015_Lys2017delinsTer)
|
|
|
NM_014363.6(SACS):c.605-1G>A
|
rs1555254489
|
|
NM_014363.6(SACS):c.6052A>T (p.Lys2018Ter)
|
rs1555251944
|
|
NM_014363.6(SACS):c.6068del (p.Asn2023fs)
|
rs1555251935
|
|
NM_014363.6(SACS):c.6130C>T (p.Gln2044Ter)
|
rs1408290451
|
|
NM_014363.6(SACS):c.6163del (p.Gln2055fs)
|
rs1555251905
|
|
NM_014363.6(SACS):c.6172del (p.Ser2058fs)
|
rs1214399996
|
|
NM_014363.6(SACS):c.6186dup (p.Pro2063fs)
|
rs2137611917
|
|
NM_014363.6(SACS):c.6221del (p.Asp2074fs)
|
rs1057517366
|
|
NM_014363.6(SACS):c.622_640del (p.Ser208fs)
|
|
|
NM_014363.6(SACS):c.6282del (p.Thr2095fs)
|
rs1555251853
|
|
NM_014363.6(SACS):c.6290del (p.Cys2097fs)
|
rs1868755540
|
|
NM_014363.6(SACS):c.6300_6301delinsC (p.Ser2101fs)
|
rs1555251840
|
|
NM_014363.6(SACS):c.6320del (p.Leu2107fs)
|
rs1057516295
|
|
NM_014363.6(SACS):c.6353_6356del (p.Gly2118fs)
|
rs1555251818
|
|
NM_014363.6(SACS):c.6409C>T (p.Gln2137Ter)
|
rs201690040
|
|
NM_014363.6(SACS):c.6448_6452del (p.Gln2150fs)
|
rs1057516635
|
|
NM_014363.6(SACS):c.654del (p.Gln219fs)
|
|
|
NM_014363.6(SACS):c.6663del (p.Lys2221fs)
|
rs1555251699
|
|
NM_014363.6(SACS):c.6757dup (p.Ile2253fs)
|
rs1057516932
|
|
NM_014363.6(SACS):c.6767_6794del (p.Leu2256fs)
|
rs2137606577
|
|
NM_014363.6(SACS):c.6804del (p.Phe2268fs)
|
rs1057517301
|
|
NM_014363.6(SACS):c.6866_6867del (p.Thr2289fs)
|
|
|
NM_014363.6(SACS):c.6919G>T (p.Gly2307Ter)
|
rs1555251615
|
|
NM_014363.6(SACS):c.699del (p.Asp235fs)
|
rs1415870785
|
|
NM_014363.6(SACS):c.7080_7084del (p.His2362fs)
|
rs1294102415
|
|
NM_014363.6(SACS):c.708del (p.Asp236fs)
|
|
|
NM_014363.6(SACS):c.7110C>A (p.Tyr2370Ter)
|
rs1555251553
|
|
NM_014363.6(SACS):c.7114dup (p.Tyr2372fs)
|
rs1057517222
|
|
NM_014363.6(SACS):c.7139del (p.Asn2380fs)
|
rs1057516689
|
|
NM_014363.6(SACS):c.7162_7163del (p.Thr2388fs)
|
rs1555251539
|
|
NM_014363.6(SACS):c.7221_7224dup (p.Gln2409Ter)
|
rs1555251514
|
|
NM_014363.6(SACS):c.7252G>T (p.Glu2418Ter)
|
rs2137602382
|
|
NM_014363.6(SACS):c.7276C>T (p.Arg2426Ter)
|
rs786204750
|
|
NM_014363.6(SACS):c.7394C>A (p.Ser2465Ter)
|
rs747676277
|
|
NM_014363.6(SACS):c.7418_7419delinsTTT (p.Trp2473fs)
|
rs1555251428
|
|
NM_014363.6(SACS):c.742_743del (p.Ala248fs)
|
|
|
NM_014363.6(SACS):c.7436_7443dup (p.Lys2482delinsProLeuTer)
|
rs1555251421
|
|
NM_014363.6(SACS):c.7494_7504del (p.Val2499fs)
|
rs1057517451
|
|
NM_014363.6(SACS):c.7499dup (p.Arg2502fs)
|
|
|
NM_014363.6(SACS):c.7521_7524del (p.Glu2507fs)
|
rs1057516438
|
|
NM_014363.6(SACS):c.7527T>G (p.Tyr2509Ter)
|
rs140034972
|
|
NM_014363.6(SACS):c.7576_7579del (p.Glu2526fs)
|
rs2137599071
|
|
NM_014363.6(SACS):c.7634del (p.Met2545fs)
|
|
|
NM_014363.6(SACS):c.7788del (p.Phe2596fs)
|
rs1057516959
|
|
NM_014363.6(SACS):c.7844del (p.Asn2615fs)
|
rs758572409
|
|
NM_014363.6(SACS):c.7861C>T (p.Gln2621Ter)
|
rs1057517014
|
|
NM_014363.6(SACS):c.7868del (p.Gly2623fs)
|
rs1555251301
|
|
NM_014363.6(SACS):c.7903del (p.Cys2635fs)
|
rs1028098148
|
|
NM_014363.6(SACS):c.7991G>T (p.Gly2664Val)
|
rs1060499656
|
|
NM_014363.6(SACS):c.8009del (p.Leu2670fs)
|
rs1555251254
|
|
NM_014363.6(SACS):c.8009dup (p.Leu2670fs)
|
|
|
NM_014363.6(SACS):c.8029C>T (p.Gln2677Ter)
|
rs1555251241
|
|
NM_014363.6(SACS):c.8070del (p.Phe2690fs)
|
|
|
NM_014363.6(SACS):c.8071A>T (p.Lys2691Ter)
|
|
|
NM_014363.6(SACS):c.8107C>T (p.Arg2703Cys)
|
rs780332615
|
|
NM_014363.6(SACS):c.8148del (p.Pro2717fs)
|
|
|
NM_014363.6(SACS):c.815G>A (p.Arg272His)
|
rs745907077
|
|
NM_014363.6(SACS):c.8221del (p.Asn2742fs)
|
rs1555251151
|
|
NM_014363.6(SACS):c.8305dup (p.Ile2769fs)
|
rs1279988199
|
|
NM_014363.6(SACS):c.832C>T (p.Gln278Ter)
|
rs1555254439
|
|
NM_014363.6(SACS):c.8340del (p.His2781fs)
|
rs753958013
|
|
NM_014363.6(SACS):c.8374_8375del (p.Arg2792fs)
|
|
|
NM_014363.6(SACS):c.8377C>T (p.Gln2793Ter)
|
rs1240368715
|
|
NM_014363.6(SACS):c.8404_8407del (p.Ile2802fs)
|
|
|
NM_014363.6(SACS):c.8480C>A (p.Ser2827Ter)
|
rs1555251015
|
|
NM_014363.6(SACS):c.8497_8500del (p.Ser2833fs)
|
rs1555251007
|
|
NM_014363.6(SACS):c.8542_8543del (p.Phe2848fs)
|
rs876657721
|
|
NM_014363.6(SACS):c.8574_8577del (p.His2859fs)
|
rs1555250991
|
|
NM_014363.6(SACS):c.8589dup (p.Pro2864fs)
|
rs1555250987
|
|
NM_014363.6(SACS):c.8612dup (p.Leu2871fs)
|
rs1057517212
|
|
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)
|
rs753012964
|
|
NM_014363.6(SACS):c.8727G>A (p.Trp2909Ter)
|
rs1555250949
|
|
NM_014363.6(SACS):c.8733_8734del (p.Asn2911fs)
|
rs1057517020
|
|
NM_014363.6(SACS):c.8765_8766del (p.Tyr2922fs)
|
|
|
NM_014363.6(SACS):c.8790_8793del (p.Lys2930fs)
|
|
|
NM_014363.6(SACS):c.8793del (p.Lys2931fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014363.6(SACS):c.8807del (p.Gly2936fs)
|
|
|
NM_014363.6(SACS):c.8848_8849dup (p.Val2951fs)
|
rs797044608
|
|
NM_014363.6(SACS):c.884T>A (p.Leu295Ter)
|
|
|
NM_014363.6(SACS):c.8867T>A (p.Leu2956Ter)
|
rs1057516853
|
|
NM_014363.6(SACS):c.8873del (p.Lys2958fs)
|
rs765992922
|
|
NM_014363.6(SACS):c.8888del (p.Phe2963fs)
|
rs1555250872
|
|
NM_014363.6(SACS):c.892_895delinsAC (p.Ser298fs)
|
|
|
NM_014363.6(SACS):c.896_898delinsCT (p.Phe299fs)
|
|
|
NM_014363.6(SACS):c.9088_9089dup (p.Leu3030fs)
|
rs1057517060
|
|
NM_014363.6(SACS):c.9106C>T (p.Gln3036Ter)
|
|
|
NM_014363.6(SACS):c.9119del (p.Asn3040fs)
|
|
|
NM_014363.6(SACS):c.9219_9220del (p.Cys3073_Asp3074delinsTer)
|
|
|
NM_014363.6(SACS):c.9266del (p.Pro3089fs)
|
|
|
NM_014363.6(SACS):c.9346_9354dup (p.Lys3116_Pro3118dup)
|
rs2137584629
|
|
NM_014363.6(SACS):c.9375_9379del (p.Asn3125fs)
|
rs1555250684
|
|
NM_014363.6(SACS):c.9376del (p.Asn3125_Leu3126insTer)
|
|
|
NM_014363.6(SACS):c.9377dup (p.Leu3128fs)
|
rs1057516875
|
|
NM_014363.6(SACS):c.9390_9391del (p.His3130fs)
|
rs1057517349
|
|
NM_014363.6(SACS):c.9447del (p.Val3150fs)
|
rs1555250653
|
|
NM_014363.6(SACS):c.9498del (p.Phe3166fs)
|
rs1555250642
|
|
NM_014363.6(SACS):c.9561_9564del (p.Leu3187_Phe3188insTer)
|
rs1060503431
|
|
NM_014363.6(SACS):c.9580_9587delinsC (p.Lys3195fs)
|
|
|
NM_014363.6(SACS):c.9625_9628del (p.Phe3209fs)
|
rs1555250557
|
|
NM_014363.6(SACS):c.964G>T (p.Glu322Ter)
|
rs1593145590
|
|
NM_014363.6(SACS):c.9653T>G (p.Leu3218Ter)
|
rs2137582138
|
|
NM_014363.6(SACS):c.9659_9660del (p.Ser3220fs)
|
rs2137582027
|
|
NM_014363.6(SACS):c.9660dup (p.Val3221fs)
|
|
|
NM_014363.6(SACS):c.9663_9664del (p.Leu3222fs)
|
|
|
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter)
|
rs751568153
|
|
NM_014363.6(SACS):c.9762del (p.Ser3254_Val3255insTer)
|
|
|
NM_014363.6(SACS):c.9763_9764del (p.Val3255fs)
|
rs1555250508
|
|
NM_014363.6(SACS):c.9818_9831del (p.Asp3273fs)
|
rs1057516464
|
|
NM_014363.6(SACS):c.9833G>A (p.Trp3278Ter)
|
|
|
NM_014363.6(SACS):c.9851del (p.Thr3284fs)
|
|
|
NM_014363.6(SACS):c.9879del (p.Val3294fs)
|
rs2137580025
|
|
NM_014363.6(SACS):c.9956_9957del (p.Lys3319fs)
|
rs772704931
|
|
NM_014363.6(SACS):c.998_999del (p.Val333fs)
|
|
|
NM_014363.6(SACS):c.[7504C>T;8132C>T]
|
|
|
NM_014396.4(VPS41):c.1999C>T (p.Arg667Ter)
|
|
|
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg)
|
rs1673582111
|
|
NM_014681.6(DHX34):c.1322A>G (p.Asn441Ser)
|
rs549149043
|
|
NM_014681.6(DHX34):c.2327G>C (p.Arg776Pro)
|
rs764483792
|
|
NM_014681.6(DHX34):c.466C>T (p.Gln156Ter)
|
rs1599751192
|
|
NM_014687.4(RUBCN):c.1847+2T>G
|
|
|
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs)
|
rs749829859
|
|
NM_014704.4(CEP104):c.1241T>A (p.Leu414Ter)
|
|
|
NM_014704.4(CEP104):c.1485+1G>A
|
|
|
NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)
|
|
|
NM_014704.4(CEP104):c.182del (p.Leu61fs)
|
|
|
NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs)
|
rs1189678912
|
|
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
|
|
|
NM_014704.4(CEP104):c.928dup (p.Ala310fs)
|
|
|
NM_014712.3(SETD1A):c.2330_2337del (p.Ala777fs)
|
rs2056144779
|
|
NM_014712.3(SETD1A):c.2981_2982del (p.Val994fs)
|
|
|
NM_014727.3(KMT2B):c.121G>T (p.Glu41Ter)
|
rs1969025340
|
|
NM_014795.4(ZEB2):c.-69-2A>C
|
|
|
NM_014795.4(ZEB2):c.1168del (p.Ile390fs)
|
rs1553961747
|
|
NM_014795.4(ZEB2):c.1683_1689dup (p.Asp564fs)
|
rs1703278635
|
|
NM_014795.4(ZEB2):c.1884del (p.Phe628fs)
|
rs786204811
|
|
NM_014795.4(ZEB2):c.2180del (p.Leu727fs)
|
rs786204810
|
|
NM_014795.4(ZEB2):c.2273_2274del (p.Leu758fs)
|
|
|
NM_014795.4(ZEB2):c.2384del (p.Asn795fs)
|
rs2149876640
|
|
NM_014795.4(ZEB2):c.247dup (p.Glu83fs)
|
rs1553964145
|
|
NM_014795.4(ZEB2):c.2865C>G (p.Tyr955Ter)
|
rs2149876315
|
|
NM_014795.4(ZEB2):c.2866C>T (p.Gln956Ter)
|
|
|
NM_014795.4(ZEB2):c.2890G>T (p.Glu964Ter)
|
|
|
NM_014795.4(ZEB2):c.2932G>T (p.Asp978Tyr)
|
rs863224942
|
|
NM_014795.4(ZEB2):c.2973del (p.Lys992fs)
|
rs1703231315
|
|
NM_014795.4(ZEB2):c.3023T>G (p.Phe1008Cys)
|
rs1553961332
|
|
NM_014795.4(ZEB2):c.3046C>T (p.Arg1016Ter)
|
rs886041989
|
|
NM_014795.4(ZEB2):c.3067+2T>G
|
|
|
NM_014795.4(ZEB2):c.3095del (p.Cys1032fs)
|
rs1060500653
|
|
NM_014795.4(ZEB2):c.3118C>T (p.His1040Tyr)
|
rs1553960788
|
|
NM_014795.4(ZEB2):c.3122A>G (p.His1041Arg)
|
rs1573708153
|
|
NM_014795.4(ZEB2):c.3133C>T (p.His1045Tyr)
|
rs1703135134
|
|
NM_014795.4(ZEB2):c.3146A>G (p.His1049Arg)
|
rs1114167349
|
|
NM_014795.4(ZEB2):c.3160C>G (p.Pro1054Ala)
|
|
|
NM_014795.4(ZEB2):c.3164A>G (p.Tyr1055Cys)
|
rs1135402759
|
|
NM_014795.4(ZEB2):c.3200C>A (p.Ser1067Ter)
|
rs1423851170
|
|
NM_014795.4(ZEB2):c.3214C>T (p.Gln1072Ter)
|
rs1703133912
|
|
NM_014795.4(ZEB2):c.3227dup (p.His1076fs)
|
|
|
NM_014795.4(ZEB2):c.329del (p.Pro110fs)
|
|
|
NM_014795.4(ZEB2):c.332-3C>G
|
|
|
NM_014795.4(ZEB2):c.441C>G (p.Tyr147Ter)
|
|
|
NM_014795.4(ZEB2):c.564del (p.Pro189fs)
|
|
|
NM_014795.4(ZEB2):c.639C>A (p.Cys213Ter)
|
rs1451961075
|
|
NM_014795.4(ZEB2):c.66del (p.Asn24fs)
|
rs2149935119
|
|
NM_014795.4(ZEB2):c.73+2T>C
|
rs398124282
|
|
NM_014795.4(ZEB2):c.851G>A (p.Cys284Tyr)
|
rs1703306516
|
|
NM_014795.4(ZEB2):c.876dup (p.Tyr293fs)
|
rs2149877962
|
|
NM_014795.4(ZEB2):c.899A>G (p.His300Arg)
|
rs1573718595
|
|
NM_014795.4(ZEB2):c.916+1G>T
|
rs2149877941
|
|
NM_014795.4(ZEB2):c.917G>A (p.Gly306Asp)
|
rs1703292916
|
|
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter)
|
rs765514069
|
|
NM_014822.4(SEC24D):c.697G>C (p.Gly233Arg)
|
rs730882211
|
|
NM_014874.4(MFN2):c.2220G>A (p.Trp740Ter)
|
rs1060501925
|
|
NM_014874.4(MFN2):c.314C>T (p.Thr105Met)
|
rs863224069
|
|
NM_014875.3(KIF14):c.1921dup (p.Ser641fs)
|
|
|
NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)
|
|
|
NM_014875.3(KIF14):c.2765_2766del (p.Lys922fs)
|
|
|
NM_014875.3(KIF14):c.8dup (p.Leu3fs)
|
|
|
NM_014905.5(GLS):c.1270T>C (p.Cys424Arg)
|
|
|
NM_014921.5(ADGRL1):c.1022A>G (p.Tyr341Cys)
|
rs1395589626
|
|
NM_014921.5(ADGRL1):c.26G>A (p.Trp9Ter)
|
rs1971372172
|
|
NM_014927.5(CNKSR2):c.1090A>G (p.Arg364Gly)
|
|
|
NM_014927.5(CNKSR2):c.1198C>T (p.Arg400Ter)
|
|
|
NM_014927.5(CNKSR2):c.1564C>T (p.Gln522Ter)
|
rs2147191275
|
|
NM_014927.5(CNKSR2):c.1615C>T (p.Gln539Ter)
|
rs2092414327
|
|
NM_014927.5(CNKSR2):c.1657+1G>A
|
|
|
NM_014927.5(CNKSR2):c.2185C>T (p.Arg729Ter)
|
|
|
NM_014927.5(CNKSR2):c.228+1G>A
|
|
|
NM_014989.7(RIMS1):c.1679-20550G>A
|
|
|
NM_014991.6(WDFY3):c.2932A>T (p.Arg978Ter)
|
rs1749810683
|
|
NM_014991.6(WDFY3):c.7156C>T (p.Arg2386Ter)
|
|
|
NM_015001.3(SPEN):c.6087_6088del (p.Glu2029fs)
|
rs2148740878
|
|
NM_015001.3(SPEN):c.7232C>A (p.Ser2411Ter)
|
|
|
NM_015015.3(KDM4B):c.1198_1222del (p.Ala399_Leu400insTer)
|
|
|
NM_015015.3(KDM4B):c.1316-1G>A
|
|
|
NM_015015.3(KDM4B):c.2343dup (p.Gly782fs)
|
|
|
NM_015015.3(KDM4B):c.2440_2441+1del
|
rs1231991589
|
|
NM_015015.3(KDM4B):c.2441+1G>A
|
rs746714213
|
|
NM_015015.3(KDM4B):c.2550+2T>C
|
|
|
NM_015015.3(KDM4B):c.2661_2677del (p.Val888fs)
|
|
|
NM_015015.3(KDM4B):c.2935G>T (p.Glu979Ter)
|
|
|
NM_015015.3(KDM4B):c.994_998del (p.Leu332fs)
|
|
|
NM_015021.3(ZNF292):c.1787_1790del (p.Ser596fs)
|
rs1775154516
|
|
NM_015021.3(ZNF292):c.2038_2041del (p.Glu680fs)
|
|
|
NM_015021.3(ZNF292):c.2404C>T (p.Gln802Ter)
|
|
|
NM_015021.3(ZNF292):c.265C>T (p.Arg89Ter)
|
rs865909396
|
|
NM_015021.3(ZNF292):c.3053dup (p.Gln1019fs)
|
rs1775236367
|
|
NM_015021.3(ZNF292):c.3319C>T (p.Arg1107Ter)
|
rs2127862686
|
|
NM_015021.3(ZNF292):c.3491C>G (p.Ser1164Ter)
|
|
|
NM_015021.3(ZNF292):c.3862dup (p.Ser1288fs)
|
rs2127864363
|
|
NM_015021.3(ZNF292):c.4189C>T (p.Arg1397Ter)
|
|
|
NM_015021.3(ZNF292):c.4862del (p.Asn1621fs)
|
rs2127867444
|
|
NM_015021.3(ZNF292):c.4973_4974del (p.Ile1658fs)
|
|
|
NM_015021.3(ZNF292):c.5367_5370del (p.Asn1790fs)
|
|
|
NM_015021.3(ZNF292):c.5650C>T (p.Gln1884Ter)
|
|
|
NM_015021.3(ZNF292):c.5906_5909del (p.Gln1969fs)
|
rs2127870787
|
|
NM_015021.3(ZNF292):c.5998_6008del (p.Ser2000fs)
|
rs2127871067
|
|
NM_015021.3(ZNF292):c.6015dup (p.Lys2006fs)
|
rs2127871142
|
|
NM_015021.3(ZNF292):c.6145del (p.Ser2049fs)
|
|
|
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)
|
rs1301328139
|
|
NM_015021.3(ZNF292):c.61G>C (p.Glu21Gln)
|
|
|
NM_015021.3(ZNF292):c.6489_6490del (p.Glu2164fs)
|
|
|
NM_015021.3(ZNF292):c.8026G>A (p.Asp2676Asn)
|
|
|
NM_015021.3(ZNF292):c.814G>A (p.Ala272Thr)
|
|
|
NM_015021.3(ZNF292):c.870C>A (p.Tyr290Ter)
|
rs867732475
|
|
NM_015046.5(SETX):c.[6106G>A];[7149_7151delTTGinsAT]
|
|
|
NM_015046.6(SETX):c.6848_6851delCAGA
|
|
|
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter)
|
rs747501465
|
|
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter)
|
rs1589734405
|
|
NM_015046.7(SETX):c.5222dup (p.Asp1742fs)
|
rs730882209
|
|
NM_015046.7(SETX):c.5276del (p.Val1759fs)
|
|
|
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)
|
rs750959420
|
|
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)
|
rs797045067
|
|
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr)
|
rs200154603
|
|
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly)
|
rs797045068
|
|
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg)
|
rs863224919
|
|
NM_015046.7(SETX):c.6208+2dup
|
|
|
NM_015046.7(SETX):c.6694C>T (p.Arg2232Cys)
|
rs759299299
|
|
NM_015046.7(SETX):c.6729_6730del (p.His2243fs)
|
rs752122764
|
|
NM_015046.7(SETX):c.6842+1G>T
|
rs1038776365
|
|
NM_015046.7(SETX):c.6843-3_6843-1del
|
rs1186690391
|
|
NM_015046.7(SETX):c.6859C>T (p.Arg2287Ter)
|
rs1339011741
|
|
NM_015046.7(SETX):c.7100+2T>C
|
|
|
NM_015046.7(SETX):c.718+3G>C
|
rs2131504173
|
|
NM_015076.5(CDK19):c.589T>C (p.Phe197Leu)
|
rs1779473436
|
|
NM_015076.5(CDK19):c.594G>C (p.Trp198Cys)
|
rs1779473213
|
|
NM_015076.5(CDK19):c.92C>A (p.Thr31Asn)
|
rs1783518295
|
|
NM_015076.5(CDK19):c.95A>G (p.Tyr32Cys)
|
rs1783517622
|
|
NM_015087.5(SPART):c.1450dup (p.Thr484fs)
|
rs730882198
|
|
NM_015100.4(POGZ):c.1135C>T (p.Arg379Ter)
|
rs1657533128
|
|
NM_015100.4(POGZ):c.1417T>C (p.Tyr473His)
|
|
|
NM_015100.4(POGZ):c.1418A>G (p.Tyr473Cys)
|
|
|
NM_015100.4(POGZ):c.1524-3C>G
|
rs367963956
|
|
NM_015100.4(POGZ):c.1679-3C>G
|
rs376091120
|
|
NM_015100.4(POGZ):c.1727T>C (p.Leu576Pro)
|
rs1057519392
|
|
NM_015100.4(POGZ):c.1748A>G (p.His583Arg)
|
rs1131692270
|
|
NM_015100.4(POGZ):c.1863C>A (p.Cys621Ter)
|
|
|
NM_015100.4(POGZ):c.1A>G (p.Met1Val)
|
rs2102371063
|
|
NM_015100.4(POGZ):c.2220_2221del (p.Arg740fs)
|
rs1654056152
|
|
NM_015100.4(POGZ):c.2324_2325insTT (p.Arg777fs)
|
rs2102164714
|
|
NM_015100.4(POGZ):c.2400dup (p.Lys801fs)
|
rs1653809027
|
|
NM_015100.4(POGZ):c.2401_2405delinsC (p.Lys801fs)
|
rs1653807656
|
|
NM_015100.4(POGZ):c.2433-1G>C
|
|
|
NM_015100.4(POGZ):c.2469del (p.Thr824fs)
|
rs1653766307
|
|
NM_015100.4(POGZ):c.2508del (p.Phe836fs)
|
|
|
NM_015100.4(POGZ):c.2520_2521del (p.His840fs)
|
rs886042027
|
|
NM_015100.4(POGZ):c.2545+1del
|
rs1571332089
|
|
NM_015100.4(POGZ):c.2545+2del
|
rs2102155019
|
|
NM_015100.4(POGZ):c.2569A>G (p.Arg857Gly)
|
rs2102152736
|
|
NM_015100.4(POGZ):c.2574del (p.His858fs)
|
rs1653647344
|
|
NM_015100.4(POGZ):c.2604del (p.Asn869fs)
|
rs1553213126
|
|
NM_015100.4(POGZ):c.2729C>G (p.Ser910Ter)
|
|
|
NM_015100.4(POGZ):c.2771dup (p.Gln925fs)
|
|
|
NM_015100.4(POGZ):c.2836del (p.Asp946fs)
|
rs1571326296
|
|
NM_015100.4(POGZ):c.2849dup (p.Val951fs)
|
rs1653560615
|
|
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter)
|
rs1553212545
|
|
NM_015100.4(POGZ):c.3041del (p.Gln1014fs)
|
rs796052217
|
|
NM_015100.4(POGZ):c.3046del (p.Glu1016fs)
|
|
|
NM_015100.4(POGZ):c.3048G>T (p.Glu1016Asp)
|
rs1653514334
|
|
NM_015100.4(POGZ):c.3124C>T (p.Gln1042Ter)
|
|
|
NM_015100.4(POGZ):c.3179_3180del (p.Ser1060fs)
|
rs1653497680
|
|
NM_015100.4(POGZ):c.3206_3207del (p.Ser1068_Tyr1069insTer)
|
rs1553212374
|
|
NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter)
|
rs879255404
|
|
NM_015100.4(POGZ):c.3351del (p.Leu1117fs)
|
|
|
NM_015100.4(POGZ):c.3361_3362del (p.Met1121fs)
|
rs2102145038
|
|
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter)
|
rs773311942
|
|
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)
|
rs869320764
|
|
NM_015100.4(POGZ):c.402_409dup (p.His137fs)
|
rs1057518799
|
|
NM_015100.4(POGZ):c.62del (p.Ile21fs)
|
rs1660633733
|
|
NM_015100.4(POGZ):c.64del (p.Ser22fs)
|
rs2102370816
|
|
NM_015100.4(POGZ):c.692del (p.Ile231fs)
|
rs1658105150
|
|
NM_015100.4(POGZ):c.7del (p.Asp3fs)
|
|
|
NM_015107.3(PHF8):c.1995+1G>A
|
|
|
NM_015107.3(PHF8):c.2444-2A>G
|
rs1603305030
|
|
NM_015107.3(PHF8):c.2455del (p.Leu819fs)
|
rs2065126287
|
|
NM_015125.5(CIC):c.3617del (p.Gln1206fs)
|
rs2147320674
|
|
NM_015143.3(METAP1):c.865C>T (p.Arg289Ter)
|
rs779530889
|
|
NM_015151.4(DIP2A):c.1429+2T>G
|
|
|
NM_015160.3(PMPCA):c.1204C>T (p.Arg402Ter)
|
|
|
NM_015166.4(MLC1):c.1059+1G>A
|
rs1555963392
|
|
NM_015166.4(MLC1):c.1059+1G>T
|
|
|
NM_015166.4(MLC1):c.1132T>C (p.Ter378Arg)
|
rs1555962581
|
|
NM_015166.4(MLC1):c.176G>A (p.Gly59Glu)
|
rs80358242
|
|
NM_015166.4(MLC1):c.177+1del
|
|
|
NM_015166.4(MLC1):c.178-2A>G
|
|
|
NM_015166.4(MLC1):c.250C>T (p.Arg84Cys)
|
rs281875311
|
|
NM_015166.4(MLC1):c.254G>A (p.Cys85Tyr)
|
|
|
NM_015166.4(MLC1):c.263G>T (p.Gly88Val)
|
|
|
NM_015166.4(MLC1):c.271_272del (p.Ile91fs)
|
rs1057516336
|
|
NM_015166.4(MLC1):c.299_423+108del
|
rs1602049346
|
|
NM_015166.4(MLC1):c.321+1G>T
|
rs765879182
|
|
NM_015166.4(MLC1):c.321+2T>C
|
|
|
NM_015166.4(MLC1):c.321+2T>G
|
|
|
NM_015166.4(MLC1):c.322-1G>T
|
|
|
NM_015166.4(MLC1):c.324del (p.Asn110fs)
|
rs786204747
|
|
NM_015166.4(MLC1):c.340_341del (p.Leu114fs)
|
|
|
NM_015166.4(MLC1):c.341T>A (p.Leu114Ter)
|
rs1458824689
|
|
NM_015166.4(MLC1):c.346_349del (p.Val116fs)
|
|
|
NM_015166.4(MLC1):c.377T>A (p.Leu126Ter)
|
rs2062078281
|
|
NM_015166.4(MLC1):c.383G>A (p.Trp128Ter)
|
|
|
NM_015166.4(MLC1):c.393C>A (p.Cys131Ter)
|
rs2062077684
|
|
NM_015166.4(MLC1):c.3G>A (p.Met1Ile)
|
|
|
NM_015166.4(MLC1):c.413C>A (p.Ser138Ter)
|
rs2062076867
|
|
NM_015166.4(MLC1):c.423+1G>T
|
rs752428321
|
|
NM_015166.4(MLC1):c.423+2dup
|
rs1555967668
|
|
NM_015166.4(MLC1):c.42del (p.Met15fs)
|
rs1555968785
|
|
NM_015166.4(MLC1):c.470C>A (p.Ala157Glu)
|
rs1219458189
|
|
NM_015166.4(MLC1):c.489dup (p.Ala164fs)
|
|
|
NM_015166.4(MLC1):c.517A>T (p.Lys173Ter)
|
rs766461175
|
|
NM_015166.4(MLC1):c.521_524del (p.Lys174fs)
|
|
|
NM_015166.4(MLC1):c.526-2A>G
|
|
|
NM_015166.4(MLC1):c.559G>T (p.Glu187Ter)
|
rs761502278
|
|
NM_015166.4(MLC1):c.592del (p.Tyr198fs)
|
|
|
NM_015166.4(MLC1):c.594_597del (p.Ser197_Tyr198insTer)
|
rs267607236
|
|
NM_015166.4(MLC1):c.596C>G (p.Ser199Ter)
|
|
|
NM_015166.4(MLC1):c.624_625del (p.Ala209fs)
|
rs1057517375
|
|
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)
|
rs281875317
|
|
NM_015166.4(MLC1):c.634G>C (p.Gly212Arg)
|
rs281875317
|
|
NM_015166.4(MLC1):c.639dup (p.Ile214fs)
|
rs1449444164
|
|
NM_015166.4(MLC1):c.67C>T (p.Gln23Ter)
|
rs1057517228
|
|
NM_015166.4(MLC1):c.683_684insAATACTTTGA (p.Leu228_Ser229insIleLeuTer)
|
|
|
NM_015166.4(MLC1):c.752_753del (p.Glu251fs)
|
|
|
NM_015166.4(MLC1):c.759del (p.Ser254fs)
|
|
|
NM_015166.4(MLC1):c.791dup (p.Ser265fs)
|
|
|
NM_015166.4(MLC1):c.798C>G (p.Ser266Arg)
|
rs777790290
|
|
NM_015166.4(MLC1):c.803C>G (p.Thr268Arg)
|
|
|
NM_015166.4(MLC1):c.824C>A (p.Ala275Asp)
|
rs764669598
|
|
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys)
|
rs1569244190
|
|
NM_015166.4(MLC1):c.839C>A (p.Ser280Ter)
|
rs121908341
|
|
NM_015166.4(MLC1):c.83dup (p.Tyr28Ter)
|
rs1057516286
|
|
NM_015166.4(MLC1):c.848del (p.Ile283fs)
|
|
|
NM_015166.4(MLC1):c.849del (p.Ile283_Met284insTer)
|
|
|
NM_015166.4(MLC1):c.881C>T (p.Pro294Leu)
|
rs1050220787
|
|
NM_015166.4(MLC1):c.892A>T (p.Lys298Ter)
|
|
|
NM_015166.4(MLC1):c.894+1G>A
|
|
|
NM_015166.4(MLC1):c.895-1G>C
|
rs755271052
|
|
NM_015166.4(MLC1):c.903C>G (p.Tyr301Ter)
|
rs764754702
|
|
NM_015166.4(MLC1):c.949_952del (p.Gly317fs)
|
|
|
NM_015166.4(MLC1):c.959C>A (p.Thr320Lys)
|
rs281875313
|
|
NM_015178.3(RHOBTB2):c.103G>T (p.Ala35Ser)
|
|
|
NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly)
|
rs1554504656
|
|
NM_015178.3(RHOBTB2):c.1382G>A (p.Arg461His)
|
rs1554504663
|
|
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys)
|
rs1563292586
|
|
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp)
|
rs1554504678
|
|
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)
|
rs1554504681
|
|
NM_015178.3(RHOBTB2):c.394C>T (p.Arg132Ter)
|
rs1585190351
|
|
NM_015192.4(PLCB1):c.1168-1G>A
|
rs2123451785
|
|
NM_015192.4(PLCB1):c.1514-1G>A
|
|
|
NM_015192.4(PLCB1):c.1763+2T>C
|
|
|
NM_015192.4(PLCB1):c.178-2A>G
|
|
|
NM_015192.4(PLCB1):c.1888+1G>A
|
|
|
NM_015192.4(PLCB1):c.2036_2039del (p.Ser679fs)
|
rs1568577135
|
|
NM_015192.4(PLCB1):c.2208+1G>A
|
rs1235234848
|
|
NM_015192.4(PLCB1):c.2656+1G>T
|
|
|
NM_015192.4(PLCB1):c.464+1G>A
|
|
|
NM_015192.4(PLCB1):c.465-2A>C
|
rs2123290747
|
|
NM_015192.4(PLCB1):c.664C>T (p.Arg222Ter)
|
rs990536521
|
|
NM_015192.4(PLCB1):c.862+1G>A
|
|
|
NM_015213.4(DENND5A):c.2660G>A (p.Trp887Ter)
|
|
|
NM_015213.4(DENND5A):c.3388C>T (p.Arg1130Ter)
|
|
|
NM_015215.4(CAMTA1):c.1521_1528del (p.Met507fs)
|
|
|
NM_015215.4(CAMTA1):c.2235C>A (p.Tyr745Ter)
|
|
|
NM_015215.4(CAMTA1):c.2452G>T (p.Glu818Ter)
|
|
|
NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)
|
|
|
NM_015215.4(CAMTA1):c.2685G>A (p.Trp895Ter)
|
rs2149221667
|
|
NM_015215.4(CAMTA1):c.2863C>T (p.Arg955Trp)
|
rs1135401818
|
|
NM_015215.4(CAMTA1):c.3230A>G (p.Tyr1077Cys)
|
rs863224853
|
|
NM_015215.4(CAMTA1):c.4231C>T (p.Arg1411Ter)
|
rs886041635
|
|
NM_015215.4(CAMTA1):c.438+1G>A
|
|
|
NM_015215.4(CAMTA1):c.4418G>A (p.Ser1473Asn)
|
rs776553769
|
|
NM_015215.4(CAMTA1):c.4674C>G (p.Tyr1558Ter)
|
rs2096866859
|
|
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter)
|
rs2150160606
|
|
NM_015215.4(CAMTA1):c.4759C>T (p.Gln1587Ter)
|
rs2150160765
|
|
NM_015215.4(CAMTA1):c.4780C>T (p.Arg1594Ter)
|
rs1553280067
|
|
NM_015215.4(CAMTA1):c.800del (p.Ser267fs)
|
rs1553238311
|
|
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
|
|
|
NM_015267.4(CUX2):c.560del (p.Lys187fs)
|
|
|
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs)
|
rs797045918
|
|
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs)
|
rs749987648
|
|
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter)
|
rs1966902456
|
|
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter)
|
rs1037406858
|
|
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)
|
rs767686118
|
|
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter)
|
rs145807002
|
|
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter)
|
rs770291169
|
|
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs)
|
rs1966218490
|
|
NM_015272.5(RPGRIP1L):c.2891del (p.Pro964fs)
|
|
|
NM_015272.5(RPGRIP1L):c.2958+1G>T
|
rs2151056579
|
|
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter)
|
rs1567800920
|
|
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.529+1688_609del
|
|
|
NM_015272.5(RPGRIP1L):c.530-1G>C
|
rs2151325787
|
|
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter)
|
rs564992297
|
|
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)
|
|
|
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs)
|
rs757594906
|
|
NM_015275.3(WASHC4):c.1038+1G>T
|
rs1881282106
|
|
NM_015275.3(WASHC4):c.1374del (p.Met458fs)
|
|
|
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)
|
|
|
NM_015294.6(TRIM37):c.1019+2dup
|
|
|
NM_015294.6(TRIM37):c.1020-1G>C
|
|
|
NM_015294.6(TRIM37):c.1037_1040dup (p.Met347fs)
|
rs386833999
|
|
NM_015294.6(TRIM37):c.1048C>T (p.Gln350Ter)
|
|
|
NM_015294.6(TRIM37):c.1081C>T (p.Arg361Ter)
|
|
|
NM_015294.6(TRIM37):c.1153_1154insGACTTACTCGC (p.Ala385fs)
|
rs1599230814
|
|
NM_015294.6(TRIM37):c.123+1G>A
|
|
|
NM_015294.6(TRIM37):c.1243C>T (p.Gln415Ter)
|
rs757148418
|
|
NM_015294.6(TRIM37):c.1289dup (p.Gln431fs)
|
|
|
NM_015294.6(TRIM37):c.1291C>T (p.Gln431Ter)
|
|
|
NM_015294.6(TRIM37):c.1320_1323del (p.Thr441fs)
|
|
|
NM_015294.6(TRIM37):c.1346dup (p.Ser450fs)
|
rs386834000
|
|
NM_015294.6(TRIM37):c.13_14del (p.Ser5fs)
|
|
|
NM_015294.6(TRIM37):c.165-2A>G
|
|
|
NM_015294.6(TRIM37):c.1668-1G>C
|
|
|
NM_015294.6(TRIM37):c.1808T>A (p.Leu603Ter)
|
|
|
NM_015294.6(TRIM37):c.1894_1895del (p.Glu632fs)
|
rs386834002
|
|
NM_015294.6(TRIM37):c.1948+2T>C
|
rs2145613542
|
|
NM_015294.6(TRIM37):c.1987C>T (p.Gln663Ter)
|
|
|
NM_015294.6(TRIM37):c.2015dup (p.Leu672fs)
|
|
|
NM_015294.6(TRIM37):c.2056C>T (p.Arg686Ter)
|
rs386834003
|
|
NM_015294.6(TRIM37):c.2237_2243del (p.Ala746fs)
|
|
|
NM_015294.6(TRIM37):c.2246dup (p.Tyr749Ter)
|
|
|
NM_015294.6(TRIM37):c.2293C>T (p.Arg765Ter)
|
|
|
NM_015294.6(TRIM37):c.2380_2383del (p.Ser794fs)
|
|
|
NM_015294.6(TRIM37):c.265G>T (p.Glu89Ter)
|
|
|
NM_015294.6(TRIM37):c.2804del (p.Pro935fs)
|
|
|
NM_015294.6(TRIM37):c.370-1G>A
|
|
|
NM_015294.6(TRIM37):c.40C>T (p.Arg14Ter)
|
|
|
NM_015294.6(TRIM37):c.586C>T (p.Gln196Ter)
|
rs1568191596
|
|
NM_015294.6(TRIM37):c.609_610del (p.Leu204fs)
|
|
|
NM_015294.6(TRIM37):c.637C>T (p.Gln213Ter)
|
|
|
NM_015294.6(TRIM37):c.640G>T (p.Glu214Ter)
|
|
|
NM_015294.6(TRIM37):c.745C>T (p.Gln249Ter)
|
rs386834005
|
|
NM_015294.6(TRIM37):c.810-1G>A
|
rs386834006
|
|
NM_015294.6(TRIM37):c.838_842del (p.Thr280fs)
|
rs386834007
|
|
NM_015294.6(TRIM37):c.937del (p.Tyr313fs)
|
|
|
NM_015294.6(TRIM37):c.961C>T (p.Arg321Ter)
|
|
|
NM_015294.6(TRIM37):c.965G>T (p.Gly322Val)
|
rs386834009
|
|
NM_015335.5(MED13L):c.1218dup (p.Ser407Ter)
|
rs2137404791
|
|
NM_015335.5(MED13L):c.1338_1341dup (p.Gly448fs)
|
rs1555248025
|
|
NM_015335.5(MED13L):c.2032_2035del (p.Lys678fs)
|
|
|
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter)
|
rs1592940794
|
|
NM_015335.5(MED13L):c.2239-11T>G
|
rs2137373566
|
|
NM_015335.5(MED13L):c.2345-3C>G
|
rs1592939069
|
|
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly)
|
rs1555246154
|
|
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu)
|
rs1555246145
|
|
NM_015335.5(MED13L):c.2600C>T (p.Thr867Ile)
|
rs1555246143
|
|
NM_015335.5(MED13L):c.2605C>T (p.Pro869Ser)
|
rs1057524103
|
|
NM_015335.5(MED13L):c.2606C>T (p.Pro869Leu)
|
|
|
NM_015335.5(MED13L):c.2996+1G>A
|
rs1878413465
|
|
NM_015335.5(MED13L):c.3034del (p.Tyr1012fs)
|
|
|
NM_015335.5(MED13L):c.3154C>T (p.Arg1052Ter)
|
rs2137307992
|
|
NM_015335.5(MED13L):c.3284_3285del (p.Val1095fs)
|
rs1878068615
|
|
NM_015335.5(MED13L):c.3346_3347dup (p.Asp1117fs)
|
rs2137306954
|
|
NM_015335.5(MED13L):c.3380del (p.Asn1127fs)
|
rs2137306817
|
|
NM_015335.5(MED13L):c.338G>T (p.Gly113Val)
|
|
|
NM_015335.5(MED13L):c.3482C>T (p.Thr1161Ile)
|
rs1592923871
|
|
NM_015335.5(MED13L):c.3627_3630del (p.Pro1210fs)
|
|
|
NM_015335.5(MED13L):c.392_395del (p.Glu131fs)
|
rs1874072493
|
|
NM_015335.5(MED13L):c.3942_3943del (p.Ile1315fs)
|
rs1555244212
|
|
NM_015335.5(MED13L):c.395+1G>A
|
rs1874072309
|
|
NM_015335.5(MED13L):c.4024C>T (p.Arg1342Cys)
|
rs2137290227
|
|
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter)
|
rs1592919048
|
|
NM_015335.5(MED13L):c.4136C>T (p.Pro1379Leu)
|
|
|
NM_015335.5(MED13L):c.4353del (p.Gln1452fs)
|
rs2137278830
|
|
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter)
|
rs1555243580
|
|
NM_015335.5(MED13L):c.4792C>T (p.Gln1598Ter)
|
rs2137274539
|
|
NM_015335.5(MED13L):c.5039A>G (p.Tyr1680Cys)
|
|
|
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs)
|
rs1877279397
|
|
NM_015335.5(MED13L):c.5364+1G>T
|
|
|
NM_015335.5(MED13L):c.5588+1G>A
|
rs1135401810
|
|
NM_015335.5(MED13L):c.5626_5633del (p.Leu1876fs)
|
rs1876855942
|
|
NM_015335.5(MED13L):c.5695G>A (p.Gly1899Arg)
|
rs2137241977
|
|
NM_015335.5(MED13L):c.5722G>C (p.Glu1908Gln)
|
|
|
NM_015335.5(MED13L):c.5965C>T (p.Gln1989Ter)
|
rs1555241166
|
|
NM_015335.5(MED13L):c.6488C>T (p.Ser2163Leu)
|
rs1565981137
|
|
NM_015335.5(MED13L):c.6556C>T (p.Gln2186Ter)
|
rs1555239555
|
|
NM_015335.5(MED13L):c.745A>T (p.Lys249Ter)
|
rs1879951118
|
|
NM_015335.5(MED13L):c.82dup (p.Thr28fs)
|
rs1870221353
|
|
NM_015335.5(MED13L):c.889_890del (p.Ser297fs)
|
|
|
NM_015338.6(ASXL1):c.1045C>T (p.Gln349Ter)
|
rs2011568558
|
|
NM_015338.6(ASXL1):c.1281dup (p.Gln428fs)
|
rs886042532
|
|
NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter)
|
rs2123267182
|
|
NM_015338.6(ASXL1):c.1751dup (p.Val585fs)
|
rs748946310
|
|
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)
|
rs750318549
|
|
NM_015338.6(ASXL1):c.2324del (p.Arg774_Leu775insTer)
|
rs765327792
|
|
NM_015338.6(ASXL1):c.2558del (p.Pro853fs)
|
|
|
NM_015338.6(ASXL1):c.3637del (p.Leu1213fs)
|
rs1569337176
|
|
NM_015338.6(ASXL1):c.3677_3678del (p.Leu1226fs)
|
|
|
NM_015338.6(ASXL1):c.3747_3748del (p.Met1249fs)
|
|
|
NM_015338.6(ASXL1):c.3769del (p.Ala1257fs)
|
rs1600592990
|
|
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs)
|
rs1555912897
|
|
NM_015338.6(ASXL1):c.658C>T (p.Gln220Ter)
|
rs2011469981
|
|
NM_015338.6(ASXL1):c.69del (p.Tyr24fs)
|
rs2048205050
|
|
NM_015378.4(VPS13D):c.10270C>T (p.Gln3424Ter)
|
rs2101615505
|
|
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser)
|
rs1557737087
|
|
NM_015378.4(VPS13D):c.1183C>T (p.Arg395Ter)
|
rs752359125
|
|
NM_015378.4(VPS13D):c.12242T>C (p.Val4081Ala)
|
|
|
NM_015378.4(VPS13D):c.12416C>T (p.Ala4139Val)
|
rs868354311
|
|
NM_015378.4(VPS13D):c.12530G>A (p.Gly4177Asp)
|
rs1645392057
|
|
NM_015378.4(VPS13D):c.12743C>A (p.Ala4248Glu)
|
rs779850187
|
|
NM_015378.4(VPS13D):c.5087dup (p.Pro1697fs)
|
|
|
NM_015378.4(VPS13D):c.8983C>T (p.Arg2995Ter)
|
rs202180923
|
|
NM_015509.4(NECAP1):c.38_39dup (p.Lys14Ter)
|
|
|
NM_015557.3(CHD5):c.2735C>T (p.Ser912Phe)
|
rs1474624774
|
|
NM_015557.3(CHD5):c.3371C>T (p.Pro1124Leu)
|
rs2100847449
|
|
NM_015557.3(CHD5):c.4079-3C>G
|
rs1434726192
|
|
NM_015557.3(CHD5):c.4171+1G>C
|
rs2100843382
|
|
NM_015557.3(CHD5):c.4257C>G (p.Ile1419Met)
|
rs371488822
|
|
NM_015557.3(CHD5):c.4463A>T (p.Asp1488Val)
|
rs2100842233
|
|
NM_015557.3(CHD5):c.578G>A (p.Arg193Gln)
|
rs1667056923
|
|
NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs)
|
|
|
NM_015559.3(SETBP1):c.1955_1956dup (p.Gly653fs)
|
|
|
NM_015559.3(SETBP1):c.2516del (p.Pro839fs)
|
rs2071360713
|
|
NM_015559.3(SETBP1):c.2561C>A (p.Ser854Tyr)
|
rs2071362354
|
|
NM_015559.3(SETBP1):c.2563C>A (p.Pro855Thr)
|
rs2145105580
|
|
NM_015559.3(SETBP1):c.2601C>A (p.Ser867Arg)
|
|
|
NM_015559.3(SETBP1):c.2602G>C (p.Asp868His)
|
rs267607042
|
|
NM_015559.3(SETBP1):c.2982C>G (p.Tyr994Ter)
|
rs2071377438
|
|
NM_015559.3(SETBP1):c.556C>T (p.Gln186Ter)
|
rs2071295138
|
|
NM_015570.4(AUTS2):c.1018C>T (p.Gln340Ter)
|
rs2129556993
|
|
NM_015570.4(AUTS2):c.1245_1246del (p.Gln416fs)
|
rs1789811451
|
|
NM_015570.4(AUTS2):c.1486dup (p.Gln496fs)
|
rs869312878
|
|
NM_015570.4(AUTS2):c.1557C>A (p.Tyr519Ter)
|
|
|
NM_015570.4(AUTS2):c.1600A>C (p.Thr534Pro)
|
rs1563183469
|
|
NM_015570.4(AUTS2):c.1603C>T (p.His535Tyr)
|
rs1563183492
|
|
NM_015570.4(AUTS2):c.1604A>C (p.His535Pro)
|
rs1585653240
|
|
NM_015570.4(AUTS2):c.1611C>A (p.His537Gln)
|
rs1383001370
|
|
NM_015570.4(AUTS2):c.1647dup (p.Ile550fs)
|
|
|
NM_015570.4(AUTS2):c.1775del (p.Pro592fs)
|
|
|
NM_015570.4(AUTS2):c.2005-1G>C
|
|
|
NM_015570.4(AUTS2):c.2224+1G>T
|
|
|
NM_015570.4(AUTS2):c.2481_2484dup (p.Asp829Ter)
|
|
|
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)
|
rs1562957809
|
|
NM_015570.4(AUTS2):c.454C>T (p.Arg152Ter)
|
|
|
NM_015570.4(AUTS2):c.478C>T (p.Gln160Ter)
|
rs2129540473
|
|
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter)
|
rs1585645384
|
|
NM_015570.4(AUTS2):c.946C>T (p.Arg316Ter)
|
rs1554480537
|
|
NM_015570.4(AUTS2):c.983_984del (p.Thr328fs)
|
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
NM_015656.2(KIF26A):c.3996C>A (p.Cys1332Ter)
|
|
|
NM_015681.6(B9D1):c.209T>C (p.Ile70Thr)
|
rs886039811
|
|
NM_015836.4(WARS2):c.148G>T (p.Gly50Cys)
|
rs11552864
|
|
NM_015836.4(WARS2):c.368T>G (p.Leu123Ter)
|
|
|
NM_015836.4(WARS2):c.797del (p.Pro266fs)
|
rs746478253
|
|
NM_015922.3(NSDHL):c.387del (p.Ile129fs)
|
|
|
NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)
|
|
|
NM_015981.4(CAMK2A):c.329C>T (p.Ala110Val)
|
rs779607303
|
|
NM_015981.4(CAMK2A):c.415G>C (p.Glu139Gln)
|
|
|
NM_015981.4(CAMK2A):c.49G>A (p.Glu17Lys)
|
|
|
NM_015981.4(CAMK2A):c.524G>C (p.Gly175Ala)
|
rs2150280830
|
|
NM_015981.4(CAMK2A):c.598+2dup
|
rs1554122123
|
|
NM_015981.4(CAMK2A):c.59G>A (p.Gly20Asp)
|
rs2150315525
|
|
NM_015981.4(CAMK2A):c.755T>C (p.Leu252Pro)
|
|
|
NM_015981.4(CAMK2A):c.775C>T (p.Arg259Cys)
|
|
|
NM_015981.4(CAMK2A):c.785_790del (p.Ala262_Ala263del)
|
rs2150279502
|
|
NM_015981.4(CAMK2A):c.82C>T (p.Arg28Ter)
|
|
|
NM_015981.4(CAMK2A):c.884C>A (p.Ala295Asp)
|
|
|
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs)
|
rs748735420
|
|
NM_016023.5(OTUD6B):c.401A>G (p.Glu134Gly)
|
|
|
NM_016023.5(OTUD6B):c.481A>T (p.Lys161Ter)
|
rs767217536
|
|
NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys)
|
rs1064797103
|
|
NM_016023.5(OTUD6B):c.731T>G (p.Ile244Arg)
|
rs2130446714
|
|
NM_016032.4(ZDHHC9):c.167+1G>A
|
|
|
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
|
|
|
NM_016032.4(ZDHHC9):c.268G>A (p.Asp90Asn)
|
|
|
NM_016032.4(ZDHHC9):c.442C>T (p.Arg148Trp)
|
rs137852214
|
|
NM_016032.4(ZDHHC9):c.496G>A (p.Asp166Asn)
|
rs2124105757
|
|
NM_016032.4(ZDHHC9):c.852dup (p.Glu285Ter)
|
rs1927638009
|
|
NM_016032.4(ZDHHC9):c.881+1G>C
|
rs1927636898
|
|
NM_016032.4(ZDHHC9):c.892C>T (p.Arg298Ter)
|
|
|
NM_016042.4(EXOSC3):c.226dup (p.Asp76fs)
|
|
|
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
|
|
|
NM_016042.4(EXOSC3):c.325-1G>T
|
|
|
NM_016042.4(EXOSC3):c.428_431del (p.Tyr143fs)
|
rs1296865764
|
|
NM_016042.4(EXOSC3):c.482A>G (p.Asp161Gly)
|
rs2118977758
|
|
NM_016042.4(EXOSC3):c.619_622dup (p.Arg208delinsAsnTer)
|
rs1160669103
|
|
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
|
|
|
NM_016042.4(EXOSC3):c.712T>C (p.Trp238Arg)
|
rs672601332
|
|
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro)
|
rs730882234
|
|
NM_016100.5(NAA20):c.160A>G (p.Met54Val)
|
rs2146464332
|
|
NM_016120.4(RLIM):c.1067A>G (p.Tyr356Cys)
|
rs786205133
|
|
NM_016120.4(RLIM):c.1262A>G (p.Tyr421Cys)
|
rs2079618652
|
|
NM_016120.4(RLIM):c.1729T>C (p.Tyr577His)
|
rs1569309484
|
|
NM_016120.4(RLIM):c.1792G>A (p.Asp598Asn)
|
rs1569309460
|
|
NM_016120.4(RLIM):c.992G>A (p.Gly331Glu)
|
rs2147372360
|
|
NM_016148.5(SHANK1):c.1882_1883del (p.Lys628fs)
|
|
|
NM_016169.4(SUFU):c.1023-2A>T
|
rs1060501105
|
|
NM_016169.4(SUFU):c.1157+1G>A
|
|
|
NM_016169.4(SUFU):c.1365+1G>A
|
rs2063794106
|
|
NM_016169.4(SUFU):c.182+1G>A
|
rs2135598885
|
|
NM_016169.4(SUFU):c.182+3A>C
|
rs1589970228
|
|
NM_016169.4(SUFU):c.183-1G>A
|
rs1554841447
|
|
NM_016169.4(SUFU):c.183-1G>T
|
|
|
NM_016169.4(SUFU):c.183-2A>C
|
rs2135619894
|
|
NM_016169.4(SUFU):c.183-4_247del
|
|
|
NM_016169.4(SUFU):c.317+1G>A
|
rs2135621012
|
|
NM_016169.4(SUFU):c.318-1G>C
|
rs2135742927
|
|
NM_016169.4(SUFU):c.597+1G>C
|
rs1590062006
|
|
NM_016169.4(SUFU):c.683+1G>A
|
rs2135870923
|
|
NM_016169.4(SUFU):c.684-2A>G
|
rs1590063305
|
|
NM_016169.4(SUFU):c.911-1G>T
|
|
|
NM_016169.4(SUFU):c.911-2A>C
|
|
|
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
|
rs1131692228
|
|
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser)
|
rs955171017
|
|
NM_016188.5(ACTL6B):c.1087C>T (p.Arg363Ter)
|
rs755138493
|
|
NM_016188.5(ACTL6B):c.1120C>T (p.Arg374Ter)
|
|
|
NM_016188.5(ACTL6B):c.1219T>C (p.Trp407Arg)
|
rs2131330754
|
|
NM_016188.5(ACTL6B):c.230A>G (p.Asp77Gly)
|
rs1562851259
|
|
NM_016188.5(ACTL6B):c.289C>T (p.Arg97Ter)
|
rs929755522
|
|
NM_016188.5(ACTL6B):c.369+1G>C
|
|
|
NM_016188.5(ACTL6B):c.497T>C (p.Val166Ala)
|
|
|
NM_016188.5(ACTL6B):c.556C>T (p.Gln186Ter)
|
rs1584468891
|
|
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro)
|
rs1562848909
|
|
NM_016188.5(ACTL6B):c.695dup (p.Asn233fs)
|
|
|
NM_016188.5(ACTL6B):c.70C>T (p.Arg24Cys)
|
|
|
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter)
|
rs1562848568
|
|
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter)
|
rs1562848425
|
|
NM_016188.5(ACTL6B):c.852C>G (p.Tyr284Ter)
|
rs141640000
|
|
NM_016188.5(ACTL6B):c.85G>A (p.Gly29Arg)
|
|
|
NM_016188.5(ACTL6B):c.880T>G (p.Tyr294Asp)
|
|
|
NM_016188.5(ACTL6B):c.884G>A (p.Gly295Asp)
|
|
|
NM_016219.5(MAN1B1):c.1972del (p.Ser658fs)
|
|
|
NM_016219.5(MAN1B1):c.219+1G>A
|
rs2130983856
|
|
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
|
|
|
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs)
|
rs797045688
|
|
NM_016219.5(MAN1B1):c.917-2_921del
|
|
|
NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser)
|
rs2083259164
|
|
NM_016284.5(CNOT1):c.2318C>G (p.Ser773Ter)
|
rs2151940462
|
|
NM_016302.4(CRBN):c.1171T>C (p.Cys391Arg)
|
rs797045036
|
|
NM_016302.4(CRBN):c.641C>G (p.Ser214Ter)
|
rs1575094649
|
|
NM_016333.4(SRRM2):c.1181dup (p.Ser395fs)
|
|
|
NM_016333.4(SRRM2):c.6777_6778del (p.Arg2260fs)
|
|
|
NM_016359.5(NUSAP1):c.1209C>A (p.Tyr403Ter)
|
rs2140875089
|
|
NM_016373.4(WWOX):c.1063G>C (p.Gly355Arg)
|
rs2051753978
|
|
NM_016373.4(WWOX):c.107+1G>A
|
rs1300924648
|
|
NM_016373.4(WWOX):c.107+2_107+5del
|
rs1555532979
|
|
NM_016373.4(WWOX):c.108-2A>T
|
rs1597207802
|
|
NM_016373.4(WWOX):c.136C>T (p.His46Tyr)
|
rs1597207871
|
|
NM_016373.4(WWOX):c.183C>A (p.Tyr61Ter)
|
rs759766243
|
|
NM_016373.4(WWOX):c.409+1G>C
|
rs1060502727
|
|
NM_016373.4(WWOX):c.511G>T (p.Glu171Ter)
|
rs751181600
|
|
NM_016373.4(WWOX):c.605+1_605+2delinsAA
|
rs2151934194
|
|
NM_016373.4(WWOX):c.605+2T>C
|
|
|
NM_016373.4(WWOX):c.605_605+3del
|
rs767732033
|
|
NM_016373.4(WWOX):c.606-1G>A
|
rs730882215
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
NM_016373.4(WWOX):c.791+1G>A
|
rs1164465811
|
|
NM_016373.4(WWOX):c.791+1G>T
|
rs1164465811
|
|
NM_016373.4(WWOX):c.918del (p.Glu306fs)
|
rs1057518795
|
|
NM_016373.4(WWOX):c.929G>C (p.Arg310Pro)
|
rs765339835
|
|
NM_016464.5(TMEM138):c.287A>G (p.His96Arg)
|
rs387907132
|
|
NM_016529.6(ATP8A2):c.1322dup (p.Lys442fs)
|
|
|
NM_016529.6(ATP8A2):c.1474-2del
|
rs2138177530
|
|
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs)
|
rs1156904586
|
|
NM_016529.6(ATP8A2):c.1868-2A>G
|
rs2039720333
|
|
NM_016529.6(ATP8A2):c.1917T>A (p.Tyr639Ter)
|
rs1593576872
|
|
NM_016529.6(ATP8A2):c.210del (p.Asp70fs)
|
rs2035763126
|
|
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter)
|
rs1566306570
|
|
NM_016529.6(ATP8A2):c.2749A>G (p.Asn917Asp)
|
rs1593410369
|
|
NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)
|
|
|
NM_016529.6(ATP8A2):c.3469+1G>C
|
rs763272441
|
|
NM_016529.6(ATP8A2):c.518del (p.Gly173fs)
|
rs2038343394
|
|
NM_016580.4(PCDH12):c.2008G>T (p.Glu670Ter)
|
rs531630376
|
|
NM_016604.4(KDM3B):c.3047-1G>A
|
|
|
NM_016614.3(TDP2):c.635_636+2del
|
rs2127617300
|
|
NM_016648.4(LARP7):c.1669-1_1671del
|
rs778909076
|
|
NM_016955.4(SEPSECS):c.1028_1120+1del
|
rs1553878395
|
|
NM_017415.3(KLHL3):c.1692G>A (p.Trp564Ter)
|
rs2149876234
|
|
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)
|
rs146664036
|
|
NM_017619.4(RNPC3):c.894-2A>G
|
|
|
NM_017635.5(KMT5B):c.2347C>T (p.Arg783Ter)
|
|
|
NM_017635.5(KMT5B):c.2422_2425del (p.Leu808fs)
|
rs2153039957
|
|
NM_017635.5(KMT5B):c.431_432del (p.Arg143_Phe144insTer)
|
rs1856229182
|
|
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter)
|
rs114727354
|
|
NM_017635.5(KMT5B):c.712GAG[1] (p.Glu239del)
|
|
|
NM_017635.5(KMT5B):c.787C>T (p.Leu263Phe)
|
rs2153052371
|
|
NM_017635.5(KMT5B):c.791G>C (p.Trp264Ser)
|
rs1555028104
|
|
NM_017635.5(KMT5B):c.904G>A (p.Glu302Lys)
|
|
|
NM_017635.5(KMT5B):c.914G>A (p.Cys305Tyr)
|
|
|
NM_017635.5(KMT5B):c.972C>G (p.Cys324Trp)
|
|
|
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]
|
|
|
NM_017721.5(CC2D1A):c.1620_1623dup (p.Pro542fs)
|
rs1971392241
|
|
NM_017721.5(CC2D1A):c.2711-2A>G
|
|
|
NM_017721.5(CC2D1A):c.378+137_1641+1157del
|
|
|
NM_017721.5(CC2D1A):c.61-2A>G
|
|
|
NM_017755.6(NSUN2):c.1165C>T (p.Arg389Ter)
|
rs1377452635
|
|
NM_017755.6(NSUN2):c.1198_1201dup (p.Leu401fs)
|
|
|
NM_017755.6(NSUN2):c.1566del (p.Phe522fs)
|
|
|
NM_017755.6(NSUN2):c.1725_1728del (p.Ser575fs)
|
rs762288077
|
|
NM_017755.6(NSUN2):c.1903A>G (p.Asn635Asp)
|
rs1403893283
|
|
NM_017755.6(NSUN2):c.430_431del (p.Lys144fs)
|
rs1579377990
|
|
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter)
|
rs868442196
|
|
NM_017755.6(NSUN2):c.839dup (p.Asn280fs)
|
rs1579370234
|
|
NM_017755.6(NSUN2):c.962_964delinsTTA (p.Cys321_Ser322delinsPheThr)
|
|
|
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
|
|
|
NM_017777.4(MKS1):c.1025-2A>C
|
rs794727070
|
|
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
|
|
|
NM_017777.4(MKS1):c.1071del (p.Cys358fs)
|
rs762377424
|
|
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
|
rs754279998
|
|
NM_017777.4(MKS1):c.1166-2A>G
|
rs1488635637
|
|
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter)
|
rs781423785
|
|
NM_017777.4(MKS1):c.1273+1G>C
|
rs933577333
|
|
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
|
|
|
NM_017777.4(MKS1):c.1394del (p.Pro465fs)
|
rs865870355
|
|
NM_017777.4(MKS1):c.1408-2A>G
|
rs1555596943
|
|
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
|
|
|
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs)
|
rs1555596845
|
|
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
|
rs386834044
|
|
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter)
|
rs2143737457
|
|
NM_017777.4(MKS1):c.184_190del (p.Thr62fs)
|
rs386834046
|
|
NM_017777.4(MKS1):c.1A>G (p.Met1Val)
|
rs1555601787
|
|
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
|
|
|
NM_017777.4(MKS1):c.367dup (p.Arg123fs)
|
rs775043799
|
|
NM_017777.4(MKS1):c.435del (p.Thr146fs)
|
|
|
NM_017777.4(MKS1):c.515+2T>G
|
rs1376664664
|
|
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
|
|
|
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
|
|
|
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter)
|
rs2143800757
|
|
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
|
|
|
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
|
|
|
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
|
|
|
NM_017777.4(MKS1):c.80+2T>C
|
rs386834052
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
|
|
|
NM_017777.4(MKS1):c.858+1G>A
|
rs756102768
|
|
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
|
|
|
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
|
|
|
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
|
|
|
NM_017882.3(CLN6):c.185G>A (p.Arg62His)
|
rs751486476
|
|
NM_017882.3(CLN6):c.195dup (p.Met66fs)
|
|
|
NM_017882.3(CLN6):c.1A>G (p.Met1Val)
|
rs1555440206
|
|
NM_017882.3(CLN6):c.218G>A (p.Trp73Ter)
|
rs2093214695
|
|
NM_017882.3(CLN6):c.297+1G>A
|
rs796052351
|
|
NM_017882.3(CLN6):c.297G>T (p.Lys99Asn)
|
|
|
NM_017882.3(CLN6):c.298-1G>C
|
rs1595818391
|
|
NM_017882.3(CLN6):c.311C>T (p.Ser104Phe)
|
rs777921628
|
|
NM_017882.3(CLN6):c.322del (p.Leu108fs)
|
|
|
NM_017882.3(CLN6):c.377_378delinsG (p.Ile126fs)
|
|
|
NM_017882.3(CLN6):c.385dup (p.Val129fs)
|
|
|
NM_017882.3(CLN6):c.3G>A (p.Met1Ile)
|
rs2093262869
|
|
NM_017882.3(CLN6):c.425A>G (p.Tyr142Cys)
|
rs1227254537
|
|
NM_017882.3(CLN6):c.427C>T (p.Gln143Ter)
|
rs2093205953
|
|
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)
|
rs919850756
|
|
NM_017882.3(CLN6):c.486+1G>C
|
rs756522171
|
|
NM_017882.3(CLN6):c.487-1G>T
|
|
|
NM_017882.3(CLN6):c.498dup (p.Glu167Ter)
|
rs762902907
|
|
NM_017882.3(CLN6):c.499G>T (p.Glu167Ter)
|
rs2093204342
|
|
NM_017882.3(CLN6):c.506T>A (p.Leu169His)
|
rs1344658850
|
|
NM_017882.3(CLN6):c.514T>C (p.Tyr172His)
|
rs2141138753
|
|
NM_017882.3(CLN6):c.542+1G>T
|
rs1555438614
|
|
NM_017882.3(CLN6):c.542+2T>C
|
|
|
NM_017882.3(CLN6):c.543-2A>G
|
rs2141137336
|
|
NM_017882.3(CLN6):c.543G>A (p.Trp181Ter)
|
rs1555438443
|
|
NM_017882.3(CLN6):c.665+1G>A
|
rs796052356
|
|
NM_017882.3(CLN6):c.665G>A (p.Trp222Ter)
|
rs1555438411
|
|
NM_017882.3(CLN6):c.721A>G (p.Met241Val)
|
rs753994750
|
|
NM_017882.3(CLN6):c.722T>C (p.Met241Thr)
|
rs1555438255
|
|
NM_017882.3(CLN6):c.766_770del (p.Asp256fs)
|
rs1555438234
|
|
NM_017882.3(CLN6):c.786_787dup (p.Phe263fs)
|
rs1555438229
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_017882.3(CLN6):c.829_832del (p.Val277fs)
|
rs1595816474
|
|
NM_017882.3(CLN6):c.83+2T>G
|
rs1555440188
|
|
NM_017882.3(CLN6):c.884A>G (p.Tyr295Cys)
|
rs2141135900
|
|
NM_017882.3(CLN6):c.890del (p.Pro297fs)
|
rs154774639
|
|
NM_017882.3(CLN6):c.896C>A (p.Pro299His)
|
rs758921701
|
|
NM_017890.4(VPS13B):c.10018_10021delGTTG
|
rs1554579522
|
|
NM_017890.4(VPS13B):c.6733_6748del16
|
|
|
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs)
|
rs774357106
|
|
NM_017890.4:c.3542_3543ins5
|
|
|
NM_017890.4:c.7128_7129ins5
|
|
|
NM_017890.5(VPS13B):c.4158-2A>G
|
rs2133626470
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
NM_017934.7(PHIP):c.328C>T (p.Arg110Cys)
|
rs768324201
|
|
NM_017934.7(PHIP):c.3892C>T (p.Arg1298Ter)
|
rs759380520
|
|
NM_018002.3(OXR1):c.[1100C>G;2082+1G>T]
|
|
|
NM_018026.4(PACS1):c.298C>T (p.Gln100Ter)
|
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018026.4(PACS1):c.755C>T (p.Ser252Phe)
|
|
|
NM_018075.5(ANO10):c.1009T>G (p.Phe337Val)
|
rs1227163239
|
|
NM_018075.5(ANO10):c.101G>A (p.Trp34Ter)
|
|
|
NM_018075.5(ANO10):c.1056dup (p.Glu353Ter)
|
|
|
NM_018075.5(ANO10):c.1537T>C (p.Cys513Arg)
|
rs1575415900
|
|
NM_018075.5(ANO10):c.1A>G (p.Met1Val)
|
|
|
NM_018129.4(PNPO):c.138+1G>A
|
|
|
NM_018129.4(PNPO):c.264-2A>G
|
rs780977054
|
|
NM_018129.4(PNPO):c.283C>T (p.Arg95Cys)
|
rs1483600034
|
|
NM_018129.4(PNPO):c.352G>A (p.Gly118Arg)
|
|
|
NM_018129.4(PNPO):c.418-1G>C
|
rs2144165139
|
|
NM_018129.4(PNPO):c.448_451del (p.Pro150fs)
|
rs796052872
|
|
NM_018129.4(PNPO):c.481C>T (p.Arg161Cys)
|
rs146027425
|
|
NM_018129.4(PNPO):c.547-1G>A
|
|
|
NM_018129.4(PNPO):c.547-2A>T
|
rs796052869
|
|
NM_018129.4(PNPO):c.563dup (p.Asn188fs)
|
|
|
NM_018136.5(ASPM):c.9685del (p.Ile3229fs)
|
rs199422192
|
|
NM_018255.4(ELP2):c.2084_2087del (p.Val695fs)
|
|
|
NM_018255.4(ELP2):c.2237del (p.Cys746fs)
|
|
|
NM_018255.4(ELP2):c.293dup (p.Leu98fs)
|
rs529659464
|
|
NM_018263.6(ASXL2):c.2326A>C (p.Thr776Pro)
|
|
|
NM_018294.6(CWF19L1):c.1045-2A>C
|
|
|
NM_018294.6(CWF19L1):c.1150G>T (p.Glu384Ter)
|
rs1554902760
|
|
NM_018294.6(CWF19L1):c.1158dup (p.Lys387fs)
|
rs1589611043
|
|
NM_018294.6(CWF19L1):c.187+1G>T
|
rs1330992740
|
|
NM_018294.6(CWF19L1):c.452T>G (p.Ile151Ser)
|
|
|
NM_018294.6(CWF19L1):c.605dup (p.Tyr202Ter)
|
rs1589625941
|
|
NM_018294.6(CWF19L1):c.820dup (p.Ser274fs)
|
|
|
NM_018294.6(CWF19L1):c.942del (p.Pro315fs)
|
rs749679347
|
|
NM_018294.6(CWF19L1):c.949C>T (p.Gln317Ter)
|
rs1846799593
|
|
NM_018297.4(NGLY1):c.1533_1536del (p.Asn511fs)
|
rs765211108
|
|
NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met)
|
rs61745597
|
|
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp)
|
|
|
NM_018486.3(HDAC8):c.584T>G (p.Val195Gly)
|
rs1556009247
|
|
NM_018486.3(HDAC8):c.653G>A (p.Gly218Asp)
|
rs1603060007
|
|
NM_018486.3(HDAC8):c.958G>A (p.Gly320Arg)
|
rs398122909
|
|
NM_018489.3(ASH1L):c.1907C>G (p.Ser636Ter)
|
rs1198775988
|
|
NM_018489.3(ASH1L):c.2126dup (p.Leu709fs)
|
rs2148727707
|
|
NM_018489.3(ASH1L):c.2134dup (p.Arg712fs)
|
rs1558150870
|
|
NM_018489.3(ASH1L):c.326G>A (p.Arg109Gln)
|
|
|
NM_018489.3(ASH1L):c.3838C>T (p.Arg1280Ter)
|
rs1553265154
|
|
NM_018489.3(ASH1L):c.3976dup (p.Ser1326fs)
|
rs2148721714
|
|
NM_018489.3(ASH1L):c.4065_4072del (p.Met1356fs)
|
rs2148721365
|
|
NM_018489.3(ASH1L):c.4289G>T (p.Gly1430Val)
|
|
|
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs)
|
rs1665684529
|
|
NM_018489.3(ASH1L):c.5575C>T (p.Gln1859Ter)
|
|
|
NM_018489.3(ASH1L):c.6019C>T (p.Arg2007Ter)
|
|
|
NM_018489.3(ASH1L):c.6129dup (p.Asp2044Ter)
|
rs2148443341
|
|
NM_018489.3(ASH1L):c.7804G>T (p.Val2602Leu)
|
|
|
NM_018489.3(ASH1L):c.7957C>T (p.Arg2653Ter)
|
|
|
NM_018713.3(SLC30A10):c.1006C>T (p.His336Tyr)
|
rs770740586
|
|
NM_018713.3(SLC30A10):c.392T>G (p.Leu131Arg)
|
|
|
NM_018718.3(CEP41):c.757+2T>A
|
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
|
|
NM_018718.3(CEP41):c.98-2A>G
|
|
|
NM_018723.4(RBFOX1):c.1189T>G (p.Tyr397Asp)
|
|
|
NM_018896.5(CACNA1G):c.2549C>T (p.Ala850Val)
|
|
|
NM_018896.5(CACNA1G):c.2810C>T (p.Ser937Leu)
|
rs1250995341
|
|
NM_018896.5(CACNA1G):c.3792G>T (p.Arg1264Ser)
|
rs200024646
|
|
NM_018896.5(CACNA1G):c.3835G>A (p.Asp1279Asn)
|
rs2145795264
|
|
NM_018896.5(CACNA1G):c.4592T>C (p.Met1531Thr)
|
|
|
NM_018896.5(CACNA1G):c.4593G>A (p.Met1531Ile)
|
|
|
NM_018896.5(CACNA1G):c.4594T>C (p.Phe1532Leu)
|
rs2145968180
|
|
NM_018896.5(CACNA1G):c.5960_5961delinsAC (p.Thr1987Asn)
|
rs2146373286
|
|
NM_018896.5(CACNA1G):c.632T>C (p.Leu211Pro)
|
rs2039524843
|
|
NM_018938.4(PCDHB4):c.915del (p.Lys305fs)
|
rs372292910
|
|
NM_018941.3(CLN8):c.[208C>T;792C>G]
|
|
|
NM_018941.3(CLN8):c.[212C>T];[562_563delCT]
|
|
|
NM_018941.4(CLN8):c.181_183del (p.Lys61del)
|
rs386834123
|
|
NM_018941.4(CLN8):c.204del (p.Thr69fs)
|
rs1554449028
|
|
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro)
|
rs386834124
|
|
NM_018941.4(CLN8):c.226C>T (p.Gln76Ter)
|
rs1554449047
|
|
NM_018941.4(CLN8):c.227A>G (p.Gln76Arg)
|
rs386834125
|
|
NM_018941.4(CLN8):c.263del (p.Asp88fs)
|
rs1057516582
|
|
NM_018941.4(CLN8):c.2T>C (p.Met1Thr)
|
rs1554448874
|
|
NM_018941.4(CLN8):c.306G>A (p.Trp102Ter)
|
rs1554449124
|
|
NM_018941.4(CLN8):c.312G>A (p.Trp104Ter)
|
rs1554449136
|
|
NM_018941.4(CLN8):c.320T>G (p.Ile107Ser)
|
rs386834126
|
|
NM_018941.4(CLN8):c.398T>A (p.Leu133Ter)
|
rs554042394
|
|
NM_018941.4(CLN8):c.415C>T (p.His139Tyr)
|
rs386834127
|
|
NM_018941.4(CLN8):c.43del (p.Asp15fs)
|
|
|
NM_018941.4(CLN8):c.464C>T (p.Ala155Val)
|
rs386834128
|
|
NM_018941.4(CLN8):c.46C>A (p.Leu16Met)
|
rs386834129
|
|
NM_018941.4(CLN8):c.473A>C (p.Tyr158Ser)
|
rs386834130
|
|
NM_018941.4(CLN8):c.47del (p.Leu16fs)
|
rs1057516867
|
|
NM_018941.4(CLN8):c.507C>T (p.Ser169=)
|
rs386834131
|
|
NM_018941.4(CLN8):c.50del (p.Asp17fs)
|
rs1554448924
|
|
NM_018941.4(CLN8):c.544-1G>T
|
|
|
NM_018941.4(CLN8):c.544-2A>G
|
rs1554451484
|
|
NM_018941.4(CLN8):c.562_563del (p.Leu188fs)
|
rs386834132
|
|
NM_018941.4(CLN8):c.581A>G (p.Gln194Arg)
|
rs386834133
|
|
NM_018941.4(CLN8):c.593_596dup (p.Met200fs)
|
rs1801672516
|
|
NM_018941.4(CLN8):c.594del (p.His199fs)
|
rs1554451504
|
|
NM_018941.4(CLN8):c.607T>C (p.Cys203Arg)
|
|
|
NM_018941.4(CLN8):c.610C>G (p.Arg204Gly)
|
|
|
NM_018941.4(CLN8):c.611G>T (p.Arg204Leu)
|
rs386834134
|
|
NM_018941.4(CLN8):c.634TGG[1] (p.Trp213del)
|
rs386834135
|
|
NM_018941.4(CLN8):c.66del (p.Ile23fs)
|
rs34238807
|
|
NM_018941.4(CLN8):c.709G>C (p.Gly237Arg)
|
|
|
NM_018941.4(CLN8):c.71G>A (p.Arg24His)
|
|
|
NM_018941.4(CLN8):c.71G>T (p.Arg24Leu)
|
|
|
NM_018941.4(CLN8):c.725del (p.Thr242fs)
|
rs2129015276
|
|
NM_018941.4(CLN8):c.763C>T (p.Gln255Ter)
|
rs746397087
|
|
NM_018941.4(CLN8):c.766C>G (p.Gln256Glu)
|
rs386834138
|
|
NM_018941.4(CLN8):c.782T>C (p.Val261Ala)
|
|
|
NM_018941.4(CLN8):c.88del (p.Ala30fs)
|
rs386834139
|
|
NM_019023.5(PRMT7):c.1074_1075del (p.Arg358fs)
|
rs763953657
|
|
NM_019023.5(PRMT7):c.1335_1338dup (p.His447Ter)
|
|
|
NM_019023.5(PRMT7):c.1499dup (p.Asp501fs)
|
rs1567739042
|
|
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)
|
rs1014959895
|
|
NM_019023.5(PRMT7):c.347T>A (p.Ile116Asn)
|
rs2151558358
|
|
NM_019023.5(PRMT7):c.457dup (p.Glu153fs)
|
rs2151701931
|
|
NM_019023.5(PRMT7):c.927G>T (p.Gln309His)
|
rs1597361540
|
|
NM_019026.6(TMCO1):c.493_494del (p.Ala165fs)
|
rs1558027212
|
|
NM_019066.5(MAGEL2):c.1930C>T (p.Gln644Ter)
|
rs1890387347
|
|
NM_019100.5(DMAP1):c.1024del (p.Glu342fs)
|
rs750381568
|
|
NM_019597.5(HNRNPH2):c.460del (p.Glu154fs)
|
|
|
NM_019597.5(HNRNPH2):c.613C>T (p.Gln205Ter)
|
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_019597.5(HNRNPH2):c.617G>A (p.Arg206Gln)
|
rs886039764
|
|
NM_019597.5(HNRNPH2):c.629A>G (p.Tyr210Cys)
|
rs1555988422
|
|
NM_019597.5(HNRNPH2):c.635G>C (p.Arg212Thr)
|
rs1928842837
|
|
NM_019842.4(KCNQ5):c.1040G>C (p.Gly347Ala)
|
rs1775232605
|
|
NM_019842.4(KCNQ5):c.1076G>A (p.Arg359His)
|
|
|
NM_019842.4(KCNQ5):c.1291A>T (p.Arg431Trp)
|
rs1776322078
|
|
NM_019842.4(KCNQ5):c.1667G>C (p.Gly556Ala)
|
|
|
NM_019842.4(KCNQ5):c.532C>T (p.Arg178Ter)
|
rs1554201137
|
|
NM_019842.4(KCNQ5):c.545C>T (p.Ala182Val)
|
|
|
NM_019842.4(KCNQ5):c.875A>G (p.Asn292Ser)
|
|
|
NM_019892.6(INPP5E):c.1224del (p.Ile409fs)
|
rs2131608743
|
|
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter)
|
rs2131605715
|
|
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
|
|
|
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
|
|
|
NM_020066.5(FMN2):c.1861C>T (p.Arg621Ter)
|
rs1426355851
|
|
NM_020066.5(FMN2):c.547A>T (p.Ile183Phe)
|
rs757511770
|
|
NM_020066.5(FMN2):c.874C>T (p.Gln292Ter)
|
|
|
NM_020247.5(COQ8A):c.1007del (p.Phe336fs)
|
rs1085307053
|
|
NM_020247.5(COQ8A):c.1013C>T (p.Ala338Val)
|
rs767406263
|
|
NM_020247.5(COQ8A):c.1015G>A (p.Ala339Thr)
|
rs755933881
|
|
NM_020247.5(COQ8A):c.1081-1_1082dup
|
rs1057519344
|
|
NM_020247.5(COQ8A):c.1088dup (p.Val364fs)
|
|
|
NM_020247.5(COQ8A):c.1229G>A (p.Arg410Gln)
|
rs763311061
|
|
NM_020247.5(COQ8A):c.1376T>C (p.Leu459Pro)
|
rs1433323183
|
|
NM_020247.5(COQ8A):c.1467dup (p.Asn490fs)
|
|
|
NM_020247.5(COQ8A):c.1625_1626del (p.Ile542fs)
|
rs751637699
|
|
NM_020247.5(COQ8A):c.1744dup (p.Ser582fs)
|
rs1553281318
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
NM_020247.5(COQ8A):c.1821C>A (p.Tyr607Ter)
|
rs201618750
|
|
NM_020247.5(COQ8A):c.1838_1851del (p.Met613fs)
|
|
|
NM_020247.5(COQ8A):c.32del (p.Val11fs)
|
|
|
NM_020247.5(COQ8A):c.836A>C (p.Gln279Pro)
|
rs1659738028
|
|
NM_020247.5(COQ8A):c.850C>T (p.Gln284Ter)
|
rs959109094
|
|
NM_020247.5(COQ8A):c.902G>A (p.Arg301Gln)
|
|
|
NM_020336.3(RALGAPB):c.[1918A>G];[2324G>T]
|
|
|
NM_020336.4(RALGAPB):c.2324G>T (p.Arg775Leu)
|
rs758022116
|
|
NM_020374.4(C12orf4):c.1168_1169delinsC (p.Gly390fs)
|
|
|
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs)
|
rs1943353362
|
|
NM_020374.4(C12orf4):c.639_640insACAA (p.Gln214fs)
|
rs730882197
|
|
NM_020374.4(C12orf4):c.799_1034-429delinsTTATGA
|
|
|
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu)
|
rs188675529
|
|
NM_020533.3(MCOLN1):c.378C>G (p.Tyr126Ter)
|
rs1057518782
|
|
NM_020533.3(MCOLN1):c.777+1G>C
|
rs1057518781
|
|
NM_020680.4(SCYL1):c.1386+1G>T
|
rs201581270
|
|
NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val)
|
rs1554969894
|
|
NM_020680.4(SCYL1):c.1591_1610del (p.Arg531fs)
|
|
|
NM_020699.4(GATAD2B):c.1198_1199del (p.Ser400fs)
|
rs1674480467
|
|
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln)
|
rs1057521041
|
|
NM_020699.4(GATAD2B):c.1432C>T (p.Arg478Ter)
|
rs761820222
|
|
NM_020699.4(GATAD2B):c.1438C>T (p.Gln480Ter)
|
rs1674313030
|
|
NM_020699.4(GATAD2B):c.1441C>T (p.Gln481Ter)
|
|
|
NM_020699.4(GATAD2B):c.1446G>T (p.Gln482His)
|
rs1674312870
|
|
NM_020699.4(GATAD2B):c.1537C>T (p.Gln513Ter)
|
rs1553187362
|
|
NM_020699.4(GATAD2B):c.155del (p.Lys52fs)
|
|
|
NM_020699.4(GATAD2B):c.1780T>C (p.Ter594Gln)
|
rs1674245097
|
|
NM_020699.4(GATAD2B):c.387del (p.Asp130fs)
|
rs756062872
|
|
NM_020699.4(GATAD2B):c.420del (p.Arg141fs)
|
|
|
NM_020699.4(GATAD2B):c.597+1G>A
|
rs1570929867
|
|
NM_020699.4(GATAD2B):c.598-1G>A
|
rs1674549557
|
|
NM_020699.4(GATAD2B):c.614del (p.Asn205fs)
|
|
|
NM_020699.4(GATAD2B):c.676C>T (p.Pro226Ser)
|
|
|
NM_020699.4(GATAD2B):c.91C>T (p.Arg31Ter)
|
rs1570938113
|
|
NM_020699.4(GATAD2B):c.980_981del (p.Gly327fs)
|
rs797045594
|
|
NM_020702.5(MYORG):c.1086CTTCGA[1] (p.363FD[1])
|
rs1398218251
|
|
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly)
|
rs749427106
|
|
NM_020702.5(MYORG):c.1328G>A (p.Trp443Ter)
|
rs868530644
|
|
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter)
|
rs1563981743
|
|
NM_020702.5(MYORG):c.1431C>A (p.Tyr477Ter)
|
rs1588003652
|
|
NM_020702.5(MYORG):c.1788C>G (p.Tyr596Ter)
|
|
|
NM_020702.5(MYORG):c.1873G>T (p.Glu625Ter)
|
|
|
NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup)
|
rs775762093
|
|
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter)
|
rs1563982489
|
|
NM_020702.5(MYORG):c.701_702del (p.Ala234fs)
|
|
|
NM_020705.2(TBC1D24):c.[1218G>C];[1270T>C]
|
|
|
NM_020708.5(SLC12A5):c.1208T>C (p.Leu403Pro)
|
rs863225304
|
|
NM_020708.5(SLC12A5):c.1337-2A>G
|
|
|
NM_020708.5(SLC12A5):c.147+1G>A
|
|
|
NM_020708.5(SLC12A5):c.1583G>A (p.Gly528Asp)
|
rs863225305
|
|
NM_020708.5(SLC12A5):c.2012+1G>T
|
rs2145497450
|
|
NM_020708.5(SLC12A5):c.2812C>T (p.Arg938Ter)
|
|
|
NM_020708.5(SLC12A5):c.3110+1G>A
|
|
|
NM_020708.5(SLC12A5):c.3274G>A (p.Glu1092Lys)
|
rs1555868402
|
|
NM_020708.5(SLC12A5):c.53-2A>C
|
|
|
NM_020708.5(SLC12A5):c.53-2A>G
|
rs2084483775
|
|
NM_020708.5(SLC12A5):c.626C>T (p.Pro209Leu)
|
|
|
NM_020708.5(SLC12A5):c.854+1G>A
|
|
|
NM_020717.5(SHROOM4):c.4212+1G>A
|
rs2147209054
|
|
NM_020738.4(KIDINS220):c.4497del (p.Arg1499fs)
|
rs2147944830
|
|
NM_020751.3(COG6):c.1167-24A>G
|
rs730882236
|
|
NM_020754.4(ARHGAP31):c.1700del (p.Pro567fs)
|
rs2107644554
|
|
NM_020771.4(HACE1):c.1443C>A (p.Cys481Ter)
|
rs2114793034
|
|
NM_020806.5(GPHN):c.1293+2T>G
|
rs2077665118
|
|
NM_020821.3(VPS13C):c.10576C>T (p.Arg3526Ter)
|
|
|
NM_020821.3(VPS13C):c.10786_10792del (p.Pro3596fs)
|
rs2140867780
|
|
NM_020821.3(VPS13C):c.1193_1194del (p.Ile398fs)
|
|
|
NM_020821.3(VPS13C):c.1483+1G>A
|
rs2046226928
|
|
NM_020821.3(VPS13C):c.9481G>T (p.Glu3161Ter)
|
|
|
NM_020822.3(KCNT1):c.1016T>G (p.Leu339Arg)
|
rs1831789627
|
|
NM_020822.3(KCNT1):c.1038C>A (p.Phe346Leu)
|
rs767434859
|
|
NM_020822.3(KCNT1):c.108del (p.Arg37fs)
|
|
|
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)
|
rs1588344733
|
|
NM_020822.3(KCNT1):c.1309C>A (p.Leu437Ile)
|
rs1057518066
|
|
NM_020822.3(KCNT1):c.1406A>C (p.His469Pro)
|
rs1554774322
|
|
NM_020822.3(KCNT1):c.1406A>T (p.His469Leu)
|
rs1554774322
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
NM_020822.3(KCNT1):c.1424_1485dup (p.Asn496delinsProGlyProTer)
|
rs2131497737
|
|
NM_020822.3(KCNT1):c.1505T>C (p.Phe502Ser)
|
|
|
NM_020822.3(KCNT1):c.1546A>G (p.Met516Val)
|
rs886041691
|
|
NM_020822.3(KCNT1):c.1885A>C (p.Lys629Gln)
|
rs1057522978
|
|
NM_020822.3(KCNT1):c.1885A>G (p.Lys629Glu)
|
rs1057522978
|
|
NM_020822.3(KCNT1):c.2341C>G (p.Leu781Val)
|
|
|
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His)
|
rs397515406
|
|
NM_020822.3(KCNT1):c.2390G>T (p.Gly797Val)
|
|
|
NM_020822.3(KCNT1):c.2459C>T (p.Pro820Leu)
|
|
|
NM_020822.3(KCNT1):c.2678A>T (p.Glu893Val)
|
|
|
NM_020822.3(KCNT1):c.2686A>G (p.Met896Val)
|
|
|
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His)
|
rs1023136319
|
|
NM_020822.3(KCNT1):c.2800G>T (p.Ala934Ser)
|
rs397515403
|
|
NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe)
|
|
|
NM_020822.3(KCNT1):c.2839A>G (p.Lys947Glu)
|
rs1057519544
|
|
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
|
|
|
NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)
|
rs200694691
|
|
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)
|
|
|
NM_020822.3(KCNT1):c.3001A>T (p.Thr1001Ser)
|
rs143780942
|
|
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)
|
rs1193627908
|
|
NM_020822.3(KCNT1):c.775G>A (p.Ala259Thr)
|
rs1831666357
|
|
NM_020822.3(KCNT1):c.800T>C (p.Met267Thr)
|
rs1564354299
|
|
NM_020822.3(KCNT1):c.808C>A (p.Gln270Lys)
|
|
|
NM_020822.3(KCNT1):c.862G>T (p.Gly288Cys)
|
rs587777264
|
|
NM_020843.4(SCAPER):c.1081C>T (p.Arg361Ter)
|
rs777893794
|
|
NM_020843.4(SCAPER):c.1116del (p.Val373fs)
|
rs1598632432
|
|
NM_020843.4(SCAPER):c.125-1G>A
|
rs2151864247
|
|
NM_020843.4(SCAPER):c.1495+1G>A
|
rs1598598205
|
|
NM_020843.4(SCAPER):c.2166-3C>G
|
rs1598279469
|
|
NM_020843.4(SCAPER):c.2179C>T (p.Arg727Ter)
|
rs978336151
|
|
NM_020843.4(SCAPER):c.2236dup (p.Ile746fs)
|
rs1462082548
|
|
NM_020843.4(SCAPER):c.2653del (p.Glu885fs)
|
rs1597752941
|
|
NM_020843.4(SCAPER):c.2955-1G>T
|
rs2050148457
|
|
NM_020843.4(SCAPER):c.2961_2962del (p.Cys988fs)
|
rs761149240
|
|
NM_020843.4(SCAPER):c.3224del (p.Pro1075fs)
|
rs1596596355
|
|
NM_020843.4(SCAPER):c.3707_3708del (p.Ser1236fs)
|
rs1303625185
|
|
NM_020843.4(SCAPER):c.829C>T (p.Arg277Ter)
|
rs1484749107
|
|
NM_020905.4(RDH14):c.114dup (p.Gly39fs)
|
rs779464218
|
|
NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)
|
|
|
NM_020940.4(FHIP2A):c.115G>T (p.Glu39Ter)
|
rs1592013653
|
|
NM_020987.5(ANK3):c.1863_1864del (p.Ala622fs)
|
|
|
NM_020987.5(ANK3):c.2125C>T (p.Arg709Ter)
|
rs1234025820
|
|
NM_020987.5(ANK3):c.2902G>C (p.Asp968His)
|
rs730882195
|
|
NM_020987.5(ANK3):c.631C>T (p.Arg211Ter)
|
|
|
NM_020988.3(GNAO1):c.1021_1023del (p.Asp341del)
|
|
|
NM_020988.3(GNAO1):c.1023CAT[2] (p.Ile344del)
|
rs2143705016
|
|
NM_020988.3(GNAO1):c.118G>A (p.Gly40Arg)
|
rs886041715
|
|
NM_020988.3(GNAO1):c.119-2_119-1del
|
|
|
NM_020988.3(GNAO1):c.119G>A (p.Gly40Glu)
|
rs886041766
|
|
NM_020988.3(GNAO1):c.119G>T (p.Gly40Val)
|
rs886041766
|
|
NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg)
|
rs869312939
|
|
NM_020988.3(GNAO1):c.136A>G (p.Lys46Glu)
|
rs2143272162
|
|
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn)
|
rs1555499800
|
|
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile)
|
rs1555499800
|
|
NM_020988.3(GNAO1):c.155A>G (p.Gln52Arg)
|
rs2143272260
|
|
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn)
|
rs1596867702
|
|
NM_020988.3(GNAO1):c.464+2T>C
|
rs2143647375
|
|
NM_020988.3(GNAO1):c.470T>C (p.Leu157Pro)
|
rs2143660403
|
|
NM_020988.3(GNAO1):c.509C>G (p.Pro170Arg)
|
|
|
NM_020988.3(GNAO1):c.527_528delinsAA (p.Leu176Gln)
|
rs2037724743
|
|
NM_020988.3(GNAO1):c.530G>A (p.Arg177Gln)
|
|
|
NM_020988.3(GNAO1):c.57T>G (p.Ile19Met)
|
|
|
NM_020988.3(GNAO1):c.58G>A (p.Glu20Lys)
|
rs2036182701
|
|
NM_020988.3(GNAO1):c.593+1G>A
|
|
|
NM_020988.3(GNAO1):c.614A>C (p.Gln205Pro)
|
rs2143664881
|
|
NM_020988.3(GNAO1):c.626G>T (p.Arg209Leu)
|
rs797044878
|
|
NM_020988.3(GNAO1):c.680C>T (p.Ala227Val)
|
|
|
NM_020988.3(GNAO1):c.687C>G (p.Ser229Arg)
|
rs546569747
|
|
NM_020988.3(GNAO1):c.692A>G (p.Tyr231Cys)
|
rs1057518678
|
|
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys)
|
rs1064794533
|
|
NM_020988.3(GNAO1):c.731T>A (p.Met244Lys)
|
rs2037919953
|
|
NM_020988.3(GNAO1):c.736G>C (p.Glu246Gln)
|
rs797044951
|
|
NM_020988.3(GNAO1):c.737A>T (p.Glu246Val)
|
rs1114167431
|
|
NM_020988.3(GNAO1):c.751T>A (p.Phe251Ile)
|
|
|
NM_020988.3(GNAO1):c.810C>A (p.Asn270Lys)
|
rs2143699686
|
|
NM_020988.3(GNAO1):c.813G>C (p.Lys271Asn)
|
rs758779535
|
|
NM_020988.3(GNAO1):c.817G>T (p.Asp273Tyr)
|
rs2143699701
|
|
NM_020988.3(GNAO1):c.818A>G (p.Asp273Gly)
|
|
|
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly)
|
rs2037954227
|
|
NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs)
|
rs1590028691
|
|
NM_021008.4(DEAF1):c.613G>C (p.Val205Leu)
|
rs893284652
|
|
NM_021008.4(DEAF1):c.620G>A (p.Cys207Tyr)
|
|
|
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser)
|
rs1057519565
|
|
NM_021008.4(DEAF1):c.664+2T>G
|
rs1564950387
|
|
NM_021008.4(DEAF1):c.664G>A (p.Gly222Ser)
|
|
|
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp)
|
rs587777408
|
|
NM_021008.4(DEAF1):c.682A>T (p.Ile228Phe)
|
rs2133402700
|
|
NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg)
|
rs1057524157
|
|
NM_021008.4(DEAF1):c.737G>C (p.Arg246Thr)
|
rs1554944271
|
|
NM_021008.4(DEAF1):c.748A>G (p.Lys250Glu)
|
rs2133402368
|
|
NM_021008.4(DEAF1):c.782G>C (p.Arg261Pro)
|
|
|
NM_021008.4(DEAF1):c.842G>C (p.Cys281Ser)
|
rs1860524875
|
|
NM_021008.4(DEAF1):c.880G>C (p.Val294Leu)
|
rs1590008294
|
|
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del)
|
rs1554943158
|
|
NM_021008.4(DEAF1):c.926del (p.Leu309fs)
|
rs1417226023
|
|
NM_021072.4(HCN1):c.1096C>A (p.Pro366Thr)
|
|
|
NM_021072.4(HCN1):c.1159G>A (p.Ala387Thr)
|
|
|
NM_021072.4(HCN1):c.1159G>C (p.Ala387Pro)
|
rs2112040690
|
|
NM_021072.4(HCN1):c.1172G>A (p.Gly391Asp)
|
rs1057519547
|
|
NM_021072.4(HCN1):c.2128_2129dup (p.Ser710fs)
|
rs2111839421
|
|
NM_021072.4(HCN1):c.299C>T (p.Ser100Phe)
|
rs587777492
|
|
NM_021072.4(HCN1):c.414del (p.Pro137_Tyr138insTer)
|
rs1554040120
|
|
NM_021072.4(HCN1):c.535A>T (p.Asn179Tyr)
|
|
|
NM_021072.4(HCN1):c.628C>T (p.Pro210Ser)
|
rs2112032137
|
|
NM_021072.4(HCN1):c.794T>A (p.Leu265His)
|
|
|
NM_021072.4(HCN1):c.835C>T (p.His279Tyr)
|
rs587777495
|
|
NM_021072.4(HCN1):c.881C>T (p.Ala294Val)
|
|
|
NM_021072.4(HCN1):c.908G>T (p.Gly303Val)
|
|
|
NM_021120.4(DLG3):c.116dup (p.Tyr39Ter)
|
|
|
NM_021120.4(DLG3):c.1447C>T (p.Gln483Ter)
|
rs2147842078
|
|
NM_021120.4(DLG3):c.159del (p.Tyr54fs)
|
rs1602857000
|
|
NM_021120.4(DLG3):c.1819+1del
|
|
|
NM_021614.4(KCNN2):c.1498_1499delinsTC (p.Ile500Ser)
|
rs1758880343
|
|
NM_021614.4(KCNN2):c.1718A>G (p.Tyr573Cys)
|
rs1761282515
|
|
NM_021728.4(OTX2):c.191_193delinsGG (p.Leu64fs)
|
rs1555350397
|
|
NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln)
|
rs1554887097
|
|
NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu)
|
rs781016340
|
|
NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys)
|
rs1366090807
|
|
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val)
|
rs386834145
|
|
NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)
|
rs111033574
|
|
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val)
|
rs1590020571
|
|
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln)
|
rs753386843
|
|
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser)
|
rs386834147
|
|
NM_021927.3(GUF1):c.1472_1476del (p.Leu491fs)
|
rs747316677
|
|
NM_021956.5(GRIK2):c.808C>T (p.Arg270Ter)
|
rs1265340906
|
|
NM_021975.4(RELA):c.329T>C (p.Ile110Thr)
|
rs863223356
|
|
NM_021999.5(ITM2B):c.800G>T (p.Ter267Leu)
|
rs2137997888
|
|
NM_022089.4(ATP13A2):c.1298_1299del (p.Ser433fs)
|
|
|
NM_022089.4(ATP13A2):c.1306+1G>C
|
|
|
NM_022089.4(ATP13A2):c.1353_1353+1del
|
|
|
NM_022089.4(ATP13A2):c.1407_1428dup (p.Met477fs)
|
|
|
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)
|
rs121918227
|
|
NM_022089.4(ATP13A2):c.1846-2A>G
|
rs2100783138
|
|
NM_022089.4(ATP13A2):c.2006-1G>C
|
|
|
NM_022089.4(ATP13A2):c.2127-2_2127-1delinsCC
|
|
|
NM_022089.4(ATP13A2):c.2135_2136del (p.Val712fs)
|
rs2076942520
|
|
NM_022089.4(ATP13A2):c.2413-1G>C
|
|
|
NM_022089.4(ATP13A2):c.2763-4_2763-1del
|
|
|
NM_022089.4(ATP13A2):c.3083+2T>C
|
rs771581490
|
|
NM_022089.4(ATP13A2):c.3418C>T (p.Gln1140Ter)
|
rs1057519289
|
|
NM_022089.4(ATP13A2):c.348-9_351del
|
rs749798211
|
|
NM_022089.4(ATP13A2):c.557+1G>T
|
|
|
NM_022089.4(ATP13A2):c.558-1G>T
|
rs2077392348
|
|
NM_022101.4(STEEP1):c.163del (p.Arg55fs)
|
rs2147360775
|
|
NM_022101.4(STEEP1):c.79del (p.Leu27fs)
|
|
|
NM_022124.6(CDH23):c.1120_1123del (p.Val374fs)
|
|
|
NM_022124.6(CDH23):c.1143_1176del
|
rs764949139
|
|
NM_022124.6(CDH23):c.1386_1389del (p.Gln462fs)
|
rs1862873659
|
|
NM_022124.6(CDH23):c.1428dup (p.Thr477fs)
|
rs750803248
|
|
NM_022124.6(CDH23):c.1447delinsTTT (p.Leu483fs)
|
|
|
NM_022124.6(CDH23):c.1735C>T (p.Gln579Ter)
|
rs779974496
|
|
NM_022124.6(CDH23):c.1859-1G>T
|
rs1274105133
|
|
NM_022124.6(CDH23):c.1859-2A>G
|
|
|
NM_022124.6(CDH23):c.1891C>T (p.Gln631Ter)
|
|
|
NM_022124.6(CDH23):c.1936del (p.Ala646fs)
|
|
|
NM_022124.6(CDH23):c.1987-1G>T
|
|
|
NM_022124.6(CDH23):c.2161_2166delinsGTGA (p.Ile721fs)
|
|
|
NM_022124.6(CDH23):c.2289+1G>C
|
|
|
NM_022124.6(CDH23):c.2349C>G (p.Tyr783Ter)
|
rs1589344004
|
|
NM_022124.6(CDH23):c.2394del (p.Thr799fs)
|
|
|
NM_022124.6(CDH23):c.2397+1G>A
|
|
|
NM_022124.6(CDH23):c.2527del (p.Glu843fs)
|
|
|
NM_022124.6(CDH23):c.2587+1G>C
|
|
|
NM_022124.6(CDH23):c.2844dup (p.Thr949fs)
|
|
|
NM_022124.6(CDH23):c.288+2T>C
|
|
|
NM_022124.6(CDH23):c.2922del (p.Lys975fs)
|
rs1338446830
|
|
NM_022124.6(CDH23):c.2953+1G>A
|
|
|
NM_022124.6(CDH23):c.2954-2A>G
|
|
|
NM_022124.6(CDH23):c.3292_3295dup (p.Arg1099fs)
|
|
|
NM_022124.6(CDH23):c.3397G>T (p.Glu1133Ter)
|
|
|
NM_022124.6(CDH23):c.345_346del (p.Arg116fs)
|
|
|
NM_022124.6(CDH23):c.3486dup (p.Pro1163fs)
|
|
|
NM_022124.6(CDH23):c.3579+2T>C
|
rs1385831846
|
|
NM_022124.6(CDH23):c.3591C>A (p.Tyr1197Ter)
|
|
|
NM_022124.6(CDH23):c.3634C>T (p.Gln1212Ter)
|
|
|
NM_022124.6(CDH23):c.3720_3733del (p.Asp1240fs)
|
|
|
NM_022124.6(CDH23):c.3769G>T (p.Glu1257Ter)
|
|
|
NM_022124.6(CDH23):c.380A>G (p.Asp127Gly)
|
rs876657754
|
|
NM_022124.6(CDH23):c.4021G>A (p.Asp1341Asn)
|
rs121908351
|
|
NM_022124.6(CDH23):c.4101_4104+3del
|
|
|
NM_022124.6(CDH23):c.4105-4_4105-2delinsTCT
|
rs1589384283
|
|
NM_022124.6(CDH23):c.4207-2A>G
|
|
|
NM_022124.6(CDH23):c.4210-1G>A
|
rs1166948274
|
|
NM_022124.6(CDH23):c.4210-2A>G
|
rs557620034
|
|
NM_022124.6(CDH23):c.4300del (p.Val1434fs)
|
|
|
NM_022124.6(CDH23):c.4332G>A (p.Trp1444Ter)
|
|
|
NM_022124.6(CDH23):c.4426del (p.Ile1476fs)
|
|
|
NM_022124.6(CDH23):c.4428del (p.Ile1476fs)
|
|
|
NM_022124.6(CDH23):c.4440del (p.Phe1480fs)
|
|
|
NM_022124.6(CDH23):c.4471dup (p.Asp1491fs)
|
|
|
NM_022124.6(CDH23):c.4720_4721del (p.Met1574fs)
|
|
|
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
|
rs137937502
|
|
NM_022124.6(CDH23):c.4863C>G (p.Tyr1621Ter)
|
|
|
NM_022124.6(CDH23):c.489del (p.Gly165fs)
|
|
|
NM_022124.6(CDH23):c.5101G>A (p.Glu1701Lys)
|
|
|
NM_022124.6(CDH23):c.5125del (p.Thr1708_Leu1709insTer)
|
rs2132927249
|
|
NM_022124.6(CDH23):c.5188-1G>A
|
|
|
NM_022124.6(CDH23):c.5277_5283del (p.Gly1760fs)
|
|
|
NM_022124.6(CDH23):c.5502+2T>G
|
|
|
NM_022124.6(CDH23):c.5534A>G (p.Asn1845Ser)
|
|
|
NM_022124.6(CDH23):c.562dup (p.Thr188fs)
|
rs1857435780
|
|
NM_022124.6(CDH23):c.5749G>A (p.Glu1917Lys)
|
rs1060499789
|
|
NM_022124.6(CDH23):c.5820+2T>C
|
|
|
NM_022124.6(CDH23):c.5820+5G>A
|
rs2132940635
|
|
NM_022124.6(CDH23):c.5931del (p.Leu1978fs)
|
|
|
NM_022124.6(CDH23):c.5976del (p.Asp1993fs)
|
|
|
NM_022124.6(CDH23):c.6050-1G>A
|
rs762805265
|
|
NM_022124.6(CDH23):c.624+1G>A
|
|
|
NM_022124.6(CDH23):c.6311_6344delinsCCA (p.Leu2104fs)
|
|
|
NM_022124.6(CDH23):c.6344del (p.Arg2115fs)
|
rs1589424694
|
|
NM_022124.6(CDH23):c.6377delinsCGT (p.Arg2126fs)
|
|
|
NM_022124.6(CDH23):c.6464C>A (p.Ser2155Ter)
|
|
|
NM_022124.6(CDH23):c.6516del (p.Glu2173fs)
|
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
NM_022124.6(CDH23):c.6675dup (p.Asn2226fs)
|
|
|
NM_022124.6(CDH23):c.6676_6677insTT (p.Asn2226fs)
|
|
|
NM_022124.6(CDH23):c.66G>A (p.Trp22Ter)
|
|
|
NM_022124.6(CDH23):c.67+1G>A
|
|
|
NM_022124.6(CDH23):c.6821_6822del (p.Val2274fs)
|
|
|
NM_022124.6(CDH23):c.6831del (p.Lys2278fs)
|
rs1200012430
|
|
NM_022124.6(CDH23):c.6942del (p.Leu2315fs)
|
|
|
NM_022124.6(CDH23):c.6944_6945del (p.Leu2315fs)
|
|
|
NM_022124.6(CDH23):c.7022del (p.Pro2341fs)
|
|
|
NM_022124.6(CDH23):c.702dup (p.Ile235fs)
|
|
|
NM_022124.6(CDH23):c.7054+1G>A
|
rs1057524265
|
|
NM_022124.6(CDH23):c.7258del (p.Ile2420fs)
|
|
|
NM_022124.6(CDH23):c.7483-1G>A
|
|
|
NM_022124.6(CDH23):c.753+1G>A
|
rs1857755312
|
|
NM_022124.6(CDH23):c.754-2A>G
|
rs2132400338
|
|
NM_022124.6(CDH23):c.7558G>A (p.Glu2520Lys)
|
|
|
NM_022124.6(CDH23):c.7568del (p.Pro2523fs)
|
|
|
NM_022124.6(CDH23):c.7624_7630del (p.Asn2541_Gly2542insTer)
|
|
|
NM_022124.6(CDH23):c.778G>A (p.Ala260Thr)
|
rs373294595
|
|
NM_022124.6(CDH23):c.7841del (p.Pro2614fs)
|
|
|
NM_022124.6(CDH23):c.7902_7903insTTACGAG (p.Val2635fs)
|
rs1221464948
|
|
NM_022124.6(CDH23):c.7987TTC[1] (p.Phe2664del)
|
rs774559018
|
|
NM_022124.6(CDH23):c.8197C>T (p.Gln2733Ter)
|
rs1841758961
|
|
NM_022124.6(CDH23):c.8308+1G>A
|
rs757675676
|
|
NM_022124.6(CDH23):c.8309-1G>A
|
|
|
NM_022124.6(CDH23):c.8352del (p.Leu2785fs)
|
|
|
NM_022124.6(CDH23):c.8443del (p.Arg2815fs)
|
|
|
NM_022124.6(CDH23):c.8532_8533del (p.Arg2845fs)
|
|
|
NM_022124.6(CDH23):c.8590G>T (p.Glu2864Ter)
|
|
|
NM_022124.6(CDH23):c.860_863dup (p.Tyr288Ter)
|
|
|
NM_022124.6(CDH23):c.871G>A (p.Gly291Arg)
|
rs767343063
|
|
NM_022124.6(CDH23):c.871G>T (p.Gly291Ter)
|
rs767343063
|
|
NM_022124.6(CDH23):c.8722+1G>A
|
|
|
NM_022124.6(CDH23):c.8764del (p.Ala2922fs)
|
|
|
NM_022124.6(CDH23):c.9109C>T (p.Gln3037Ter)
|
|
|
NM_022124.6(CDH23):c.913del (p.Leu305fs)
|
rs1393567447
|
|
NM_022124.6(CDH23):c.9176del (p.Pro3059fs)
|
rs1554877806
|
|
NM_022124.6(CDH23):c.9264G>A (p.Trp3088Ter)
|
|
|
NM_022124.6(CDH23):c.9381-2A>G
|
|
|
NM_022124.6(CDH23):c.9471_9474del (p.Ser3157fs)
|
|
|
NM_022124.6(CDH23):c.9556C>T (p.Arg3186Ter)
|
rs773464867
|
|
NM_022124.6(CDH23):c.9700del (p.Val3234fs)
|
|
|
NM_022124.6(CDH23):c.9738+1G>T
|
|
|
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)
|
rs587777446
|
|
NM_022464.5(SIL1):c.1038del (p.Glu347fs)
|
|
|
NM_022464.5(SIL1):c.1249C>T (p.Gln417Ter)
|
|
|
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
|
|
|
NM_022464.5(SIL1):c.353+1G>T
|
|
|
NM_022464.5(SIL1):c.643_645+21del
|
|
|
NM_022464.5(SIL1):c.645+2T>C
|
|
|
NM_022552.5(DNMT3A):c.2722T>A (p.Tyr908Asn)
|
rs1558650788
|
|
NM_022552.5(DNMT3A):c.427C>T (p.Arg143Ter)
|
rs1352259738
|
|
NM_022552.5(DNMT3A):c.705del (p.Glu235fs)
|
rs1675087282
|
|
NM_022552.5(DNMT3A):c.745C>T (p.Gln249Ter)
|
|
|
NM_022726.4(ELOVL4):c.512T>C (p.Ile171Thr)
|
rs1554162301
|
|
NM_022765.4(MICAL1):c.2348C>G (p.Ser783Ter)
|
|
|
NM_022765.4(MICAL1):c.763G>T (p.Val255Leu)
|
|
|
NM_022786.3(ARV1):c.573_574del (p.Leu192fs)
|
|
|
NM_022786.3(ARV1):c.594_595del (p.Ile198fs)
|
|
|
NM_022893.4(BCL11A):c.152G>C (p.Cys51Ser)
|
rs1558519731
|
|
NM_022893.4(BCL11A):c.1675_*1445del (p.Ser559fs)
|
|
|
NM_022893.4(BCL11A):c.55+1G>T
|
rs1670493597
|
|
NM_022893.4(BCL11A):c.977C>A (p.Thr326Lys)
|
rs1676326365
|
|
NM_023077.3(COA7):c.97del (p.Asp33fs)
|
|
|
NM_023110.3(FGFR1):c.1543A>G (p.Met515Val)
|
rs1057519899
|
|
NM_023110.3(FGFR1):c.1636A>G (p.Asn546Asp)
|
rs1057519898
|
|
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)
|
rs779707422
|
|
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)
|
rs869320694
|
|
NM_023110.3(FGFR1):c.1968G>C (p.Lys656Asn)
|
rs1057519897
|
|
NM_024072.4(DDX54):c.647A>G (p.Asn216Ser)
|
rs764707570
|
|
NM_024298.5(MBOAT7):c.1062C>A (p.Tyr354Ter)
|
rs2076017638
|
|
NM_024298.5(MBOAT7):c.1135del (p.Leu379fs)
|
rs2076013475
|
|
NM_024298.5(MBOAT7):c.126_145del (p.Leu43fs)
|
rs886041058
|
|
NM_024298.5(MBOAT7):c.1290C>A (p.Tyr430Ter)
|
|
|
NM_024298.5(MBOAT7):c.199C>T (p.Gln67Ter)
|
rs2076508722
|
|
NM_024298.5(MBOAT7):c.251del (p.Leu84fs)
|
rs2076453977
|
|
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter)
|
rs2076453599
|
|
NM_024298.5(MBOAT7):c.680_690dup (p.Leu231fs)
|
rs1264222654
|
|
NM_024298.5(MBOAT7):c.757G>A (p.Glu253Lys)
|
rs868498080
|
|
NM_024298.5(MBOAT7):c.811dup (p.Arg271fs)
|
rs2146989146
|
|
NM_024496.4(IRF2BPL):c.379C>T (p.Gln127Ter)
|
rs1292724234
|
|
NM_024528.4(NKAP):c.989G>A (p.Arg330His)
|
rs1603379780
|
|
NM_024528.4(NKAP):c.998G>A (p.Arg333Gln)
|
rs1603379779
|
|
NM_024548.4(CEP97):c.1148A>G (p.His383Arg)
|
rs1060499739
|
|
NM_024656.4(COLGALT1):c.173T>C (p.Leu58Pro)
|
rs2076207767
|
|
NM_024665.7(TBL1XR1):c.1000T>C (p.Cys334Arg)
|
rs1576994101
|
|
NM_024665.7(TBL1XR1):c.1018_1021del (p.Arg340fs)
|
rs1715100386
|
|
NM_024665.7(TBL1XR1):c.1043A>G (p.His348Arg)
|
rs1576994053
|
|
NM_024665.7(TBL1XR1):c.1048-1G>A
|
rs1576993734
|
|
NM_024665.7(TBL1XR1):c.1100G>T (p.Cys367Phe)
|
rs1576993654
|
|
NM_024665.7(TBL1XR1):c.1108G>A (p.Asp370Asn)
|
rs1057517933
|
|
NM_024665.7(TBL1XR1):c.1182_1183dup (p.Tyr395fs)
|
rs2108414363
|
|
NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys)
|
rs1576982808
|
|
NM_024665.7(TBL1XR1):c.1291C>T (p.Arg431Ter)
|
rs755371824
|
|
NM_024665.7(TBL1XR1):c.1336T>C (p.Tyr446His)
|
rs1553808301
|
|
NM_024665.7(TBL1XR1):c.1378G>A (p.Gly460Ser)
|
rs2108407721
|
|
NM_024665.7(TBL1XR1):c.1387G>A (p.Asp463Asn)
|
rs1560098548
|
|
NM_024665.7(TBL1XR1):c.1453G>A (p.Gly485Arg)
|
rs2108378323
|
|
NM_024665.7(TBL1XR1):c.1496G>A (p.Gly499Glu)
|
rs1713131684
|
|
NM_024665.7(TBL1XR1):c.172_173del (p.Gln58fs)
|
rs2108503904
|
|
NM_024665.7(TBL1XR1):c.187G>A (p.Glu63Lys)
|
rs2108503870
|
|
NM_024665.7(TBL1XR1):c.204+2del
|
rs2108503840
|
|
NM_024665.7(TBL1XR1):c.205-7A>G
|
rs1717116134
|
|
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter)
|
rs1577029680
|
|
NM_024665.7(TBL1XR1):c.514G>C (p.Val172Leu)
|
rs1716920045
|
|
NM_024665.7(TBL1XR1):c.524G>A (p.Cys175Tyr)
|
|
|
NM_024665.7(TBL1XR1):c.59-1G>A
|
rs2108504144
|
|
NM_024665.7(TBL1XR1):c.679G>A (p.Asp227Asn)
|
rs2108490656
|
|
NM_024665.7(TBL1XR1):c.689C>T (p.Ser230Phe)
|
rs1553815393
|
|
NM_024665.7(TBL1XR1):c.703-2A>G
|
rs1577018466
|
|
NM_024665.7(TBL1XR1):c.710G>A (p.Gly237Asp)
|
rs1716484744
|
|
NM_024665.7(TBL1XR1):c.728G>A (p.Gly243Asp)
|
rs2108480284
|
|
NM_024665.7(TBL1XR1):c.734A>G (p.Tyr245Cys)
|
rs878854401
|
|
NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys)
|
|
|
NM_024665.7(TBL1XR1):c.864+1G>A
|
|
|
NM_024665.7(TBL1XR1):c.920A>G (p.His307Arg)
|
rs1716297832
|
|
NM_024665.7(TBL1XR1):c.937G>A (p.Asp313Asn)
|
|
|
NM_024665.7(TBL1XR1):c.970T>G (p.Ser324Ala)
|
rs2108437312
|
|
NM_024665.7(TBL1XR1):c.973_975dup (p.Cys325dup)
|
rs1715105181
|
|
NM_024665.7(TBL1XR1):c.974G>A (p.Cys325Tyr)
|
rs1553810255
|
|
NM_024665.7(TBL1XR1):c.977G>T (p.Ser326Ile)
|
rs1135401760
|
|
NM_024725.4(CCDC82):c.67C>T (p.Arg23Ter)
|
|
|
NM_024735.5(FBXO31):c.1000G>A (p.Asp334Asn)
|
rs2150668444
|
|
NM_024757.5(EHMT1):c.1647+2T>C
|
rs1057518913
|
|
NM_024818.6(UBA5):c.199G>T (p.Asp67Tyr)
|
rs61748106
|
|
NM_024818.6(UBA5):c.280A>G (p.Arg94Gly)
|
|
|
NM_024818.6(UBA5):c.542G>A (p.Cys181Tyr)
|
|
|
NM_024818.6(UBA5):c.562C>T (p.Arg188Ter)
|
rs374052333
|
|
NM_024818.6(UBA5):c.910G>A (p.Asp304Asn)
|
rs772888455
|
|
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter)
|
rs1576164991
|
|
NM_024989.4(PGAP1):c.1272G>A (p.Lys424=)
|
|
|
NM_024989.4(PGAP1):c.1351-2A>G
|
|
|
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)
|
rs1576086299
|
|
NM_024989.4(PGAP1):c.2287-1G>A
|
|
|
NM_024989.4(PGAP1):c.2338-2A>C
|
rs1559328283
|
|
NM_024989.4(PGAP1):c.2393C>G (p.Ser798Ter)
|
|
|
NM_024989.4(PGAP1):c.289del (p.Ser97fs)
|
|
|
NM_024989.4(PGAP1):c.586CTT[1] (p.Leu197del)
|
rs587777378
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs)
|
rs897997464
|
|
NM_025114.4(CEP290):c.1310del (p.Lys437fs)
|
rs2137917381
|
|
NM_025114.4(CEP290):c.1359+1G>A
|
rs935130451
|
|
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter)
|
rs1465414886
|
|
NM_025114.4(CEP290):c.180+1G>A
|
rs758593134
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer)
|
rs2137710225
|
|
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs)
|
rs1221464366
|
|
NM_025114.4(CEP290):c.2632del (p.Ile878fs)
|
rs1404507934
|
|
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter)
|
rs2137423759
|
|
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter)
|
rs886042467
|
|
NM_025114.4(CEP290):c.3285del (p.Phe1095fs)
|
rs1017496924
|
|
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs)
|
rs2036977719
|
|
NM_025114.4(CEP290):c.369del (p.Gln123fs)
|
rs773622064
|
|
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter)
|
rs761907569
|
|
NM_025114.4(CEP290):c.4028del (p.Lys1343fs)
|
rs1213286417
|
|
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter)
|
rs797044604
|
|
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)
|
rs587779733
|
|
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys)
|
rs1292516576
|
|
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs)
|
rs1592833648
|
|
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter)
|
rs267606719
|
|
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter)
|
rs561598805
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.583_584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.584del (p.Leu195fs)
|
rs1277316340
|
|
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs)
|
rs1364945778
|
|
NM_025114.4(CEP290):c.6818_6818+1dup
|
rs1060499781
|
|
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer)
|
rs781310385
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs)
|
rs2033254449
|
|
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter)
|
rs1219184437
|
|
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)
|
rs773642187
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs)
|
rs281865189
|
|
NM_025114.4(CEP290):c.734_735del (p.Glu245fs)
|
rs1592671672
|
|
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter)
|
rs45502896
|
|
NM_025145.7(CFAP43):c.3937C>T (p.Arg1313Ter)
|
|
|
NM_025185.3(TANC2):c.1589_1590delGA
|
rs2046598826
|
|
NM_025243.4(SLC19A3):c.1172+2T>G
|
rs2106325851
|
|
NM_025243.4(SLC19A3):c.1173-1G>A
|
|
|
NM_025243.4(SLC19A3):c.1264A>C (p.Thr422Pro)
|
|
|
NM_025243.4(SLC19A3):c.1385dup (p.Tyr462Ter)
|
|
|
NM_025243.4(SLC19A3):c.1403del (p.Lys468fs)
|
|
|
NM_025243.4(SLC19A3):c.150+2T>C
|
rs780157041
|
|
NM_025243.4(SLC19A3):c.151-1G>C
|
|
|
NM_025243.4(SLC19A3):c.1A>C (p.Met1Leu)
|
|
|
NM_025243.4(SLC19A3):c.280T>C (p.Trp94Arg)
|
rs1695586409
|
|
NM_025243.4(SLC19A3):c.416T>A (p.Val139Glu)
|
rs1574560025
|
|
NM_025243.4(SLC19A3):c.482_483del (p.Leu161fs)
|
rs1271884981
|
|
NM_025243.4(SLC19A3):c.67G>C (p.Gly23Arg)
|
|
|
NM_025243.4(SLC19A3):c.905T>C (p.Leu302Pro)
|
rs1695547539
|
|
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)
|
rs863225150
|
|
NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)
|
|
|
NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)
|
|
|
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)
|
rs750436680
|
|
NM_030632.3(ASXL3):c.3423_3429del (p.Asn1141fs)
|
rs2067697776
|
|
NM_030665.4(RAI1):c.13C>T (p.Arg5Ter)
|
rs2143001434
|
|
NM_030665.4(RAI1):c.1677del (p.Ser560fs)
|
|
|
NM_030665.4(RAI1):c.1958_1959del (p.Val653fs)
|
rs2032172594
|
|
NM_030665.4(RAI1):c.2238G>A (p.Trp746Ter)
|
rs1598089943
|
|
NM_030665.4(RAI1):c.269del (p.Gly90fs)
|
|
|
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
|
|
|
NM_030665.4(RAI1):c.2903C>A (p.Ser968Ter)
|
|
|
NM_030665.4(RAI1):c.3293_3297del (p.Val1098fs)
|
|
|
NM_030665.4(RAI1):c.3534_3547del (p.Asp1179fs)
|
|
|
NM_030665.4(RAI1):c.3594G>T (p.Arg1198Ser)
|
rs2032257286
|
|
NM_030665.4(RAI1):c.367dup (p.Ala123fs)
|
|
|
NM_030665.4(RAI1):c.5223del (p.Gly1742fs)
|
|
|
NM_030665.4(RAI1):c.5444_5448del (p.Pro1815fs)
|
rs2143003540
|
|
NM_030665.4(RAI1):c.5709+5G>C
|
rs2143006568
|
|
NM_030665.4(RAI1):c.629C>G (p.Pro210Arg)
|
|
|
NM_030665.4(RAI1):c.859C>T (p.Gln287Ter)
|
rs2032121558
|
|
NM_030805.4(LMAN2L):c.740G>A (p.Arg247His)
|
rs773649192
|
|
NM_030930.4(UNC93B1):c.1345_1363+52del
|
|
|
NM_030930.4(UNC93B1):c.781+1G>A
|
|
|
NM_030948.6(PHACTR1):c.1278C>G (p.Ile426Met)
|
|
|
NM_030948.6(PHACTR1):c.209C>G (p.Pro70Arg)
|
|
|
NM_031157.4(HNRNPA1):c.1006A>G (p.Arg336Gly)
|
rs483353032
|
|
NM_031157.4(HNRNPA1):c.1009A>G (p.Ser337Gly)
|
rs483353033
|
|
NM_031157.4(HNRNPA1):c.1040A>G (p.Tyr347Cys)
|
rs483353034
|
|
NM_031157.4(HNRNPA1):c.1042T>C (p.Phe348Leu)
|
rs483353035
|
|
NM_031157.4(HNRNPA1):c.1052C>T (p.Pro351Leu)
|
rs483353036
|
|
NM_031157.4(HNRNPA1):c.1054C>T (p.Arg352Ter)
|
rs483353037
|
|
NM_031157.4(HNRNPA1):c.1057A>G (p.Asn353Asp)
|
rs483353039
|
|
NM_031157.4(HNRNPA1):c.1058A>G (p.Asn353Ser)
|
rs483353038
|
|
NM_031157.4(HNRNPA1):c.943T>C (p.Phe315Leu)
|
rs483353022
|
|
NM_031157.4(HNRNPA1):c.979C>T (p.Pro327Ser)
|
rs483353029
|
|
NM_031157.4(HNRNPA1):c.982A>C (p.Met328Leu)
|
rs483353024
|
|
NM_031157.4(HNRNPA1):c.987G>T (p.Lys329Asn)
|
rs483353030
|
|
NM_031157.4(HNRNPA1):c.995A>G (p.Asn332Ser)
|
rs3207617
|
|
NM_031206.7(LAS1L):c.1237G>A (p.Gly413Arg)
|
rs1602612611
|
|
NM_031206.7(LAS1L):c.1243C>T (p.Arg415Trp)
|
rs1057518699
|
|
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)
|
rs1556914274
|
|
NM_031407.7(HUWE1):c.12205A>T (p.Ile4069Phe)
|
rs1556913268
|
|
NM_031407.7(HUWE1):c.12225C>G (p.Asn4075Lys)
|
rs1556913258
|
|
NM_031407.7(HUWE1):c.12227C>G (p.Pro4076Arg)
|
|
|
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys)
|
rs1556913180
|
|
NM_031407.7(HUWE1):c.12404A>C (p.His4135Pro)
|
rs2146878120
|
|
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val)
|
rs1556912828
|
|
NM_031407.7(HUWE1):c.12559C>A (p.Arg4187Ser)
|
rs121918527
|
|
NM_031407.7(HUWE1):c.12619G>A (p.Val4207Ile)
|
|
|
NM_031407.7(HUWE1):c.12719C>T (p.Ser4240Phe)
|
|
|
NM_031407.7(HUWE1):c.12732G>C (p.Glu4244Asp)
|
rs1556910184
|
|
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn)
|
rs1325394060
|
|
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg)
|
rs1557006903
|
|
NM_031407.7(HUWE1):c.2007T>G (p.His669Gln)
|
rs1557006873
|
|
NM_031407.7(HUWE1):c.2320-19A>G
|
|
|
NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His)
|
rs1057518704
|
|
NM_031407.7(HUWE1):c.344C>T (p.Ser115Phe)
|
rs1557036757
|
|
NM_031407.7(HUWE1):c.3982A>G (p.Met1328Val)
|
rs1556978515
|
|
NM_031407.7(HUWE1):c.4013C>T (p.Ala1338Val)
|
rs863224879
|
|
NM_031407.7(HUWE1):c.425G>A (p.Ser142Asn)
|
rs2067907694
|
|
NM_031407.7(HUWE1):c.489ACA[1] (p.Gln164del)
|
rs2067904283
|
|
NM_031407.7(HUWE1):c.6098-20_6109del
|
rs1602738933
|
|
NM_031407.7(HUWE1):c.6267T>G (p.Ile2089Met)
|
rs1556955128
|
|
NM_031407.7(HUWE1):c.6311A>G (p.Glu2104Gly)
|
|
|
NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile)
|
rs2066881864
|
|
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His)
|
rs121918526
|
|
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)
|
rs886041876
|
|
NM_031407.7(HUWE1):c.9581T>C (p.Phe3194Ser)
|
rs782393002
|
|
NM_031407.7(HUWE1):c.9883G>A (p.Gly3295Ser)
|
rs2147247961
|
|
NM_031442.4(TMEM47):c.35G>C (p.Arg12Pro)
|
rs1114167296
|
|
NM_031448.6(C19orf12):c.161G>T (p.Gly54Val)
|
rs752450983
|
|
NM_031466.7(TRAPPC9):c.[2415_2416insC];[3349+1G>A]
|
|
|
NM_031466.8(TRAPPC9):c.-68C>T
|
|
|
NM_031844.3(HNRNPU):c.1013T>C (p.Met338Thr)
|
|
|
NM_031844.3(HNRNPU):c.1117+1G>C
|
rs1558188078
|
|
NM_031844.3(HNRNPU):c.1118G>A (p.Gly373Asp)
|
rs2102987181
|
|
NM_031844.3(HNRNPU):c.1230+5G>A
|
rs1553282723
|
|
NM_031844.3(HNRNPU):c.143_691+113del
|
|
|
NM_031844.3(HNRNPU):c.1500GAT[2] (p.Met502del)
|
rs1680716624
|
|
NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs)
|
rs1135401794
|
|
NM_031844.3(HNRNPU):c.1717AAG[1] (p.Lys574del)
|
|
|
NM_031844.3(HNRNPU):c.1723C>T (p.Arg575Ter)
|
|
|
NM_031844.3(HNRNPU):c.1743+1G>A
|
rs2102985855
|
|
NM_031844.3(HNRNPU):c.1780_1781del (p.Cys594fs)
|
|
|
NM_031844.3(HNRNPU):c.2072del (p.Asn691fs)
|
|
|
NM_031844.3(HNRNPU):c.2168-1del
|
rs2102985115
|
|
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs)
|
rs794729648
|
|
NM_031844.3(HNRNPU):c.2425-2A>T
|
rs1553281924
|
|
NM_031844.3(HNRNPU):c.2425-3C>A
|
|
|
NM_031844.3(HNRNPU):c.32_35del (p.Leu11fs)
|
|
|
NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs)
|
rs1553283916
|
|
NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter)
|
rs1573337948
|
|
NM_031844.3(HNRNPU):c.484C>T (p.Gln162Ter)
|
|
|
NM_031844.3(HNRNPU):c.520del (p.Gln174fs)
|
rs2102990594
|
|
NM_031844.3(HNRNPU):c.596dup (p.Pro200fs)
|
rs1553283831
|
|
NM_031844.3(HNRNPU):c.61A>G (p.Lys21Glu)
|
|
|
NM_031844.3(HNRNPU):c.643_652del (p.Lys215fs)
|
|
|
NM_031844.3(HNRNPU):c.669_691+32del
|
|
|
NM_031844.3(HNRNPU):c.669_691del (p.Arg224fs)
|
rs754216321
|
|
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter)
|
rs869312701
|
|
NM_031844.3(HNRNPU):c.803+2T>C
|
rs112081356
|
|
NM_031844.3(HNRNPU):c.857_858del (p.Thr286fs)
|
rs2102989374
|
|
NM_031844.3(HNRNPU):c.868C>T (p.Leu290Phe)
|
|
|
NM_031844.3(HNRNPU):c.906_907del (p.Asp304fs)
|
|
|
NM_031896.5(CACNG7):c.784A>G (p.Ile262Val)
|
rs778171763
|
|
NM_032108.4(SEMA6B):c.1534_1537del (p.Ala512fs)
|
rs2145347825
|
|
NM_032108.4(SEMA6B):c.1739-2A>G
|
|
|
NM_032108.4(SEMA6B):c.1991del (p.Gly664fs)
|
rs1443687532
|
|
NM_032108.4(SEMA6B):c.2066G>A (p.Trp689Ter)
|
rs2145342438
|
|
NM_032108.4(SEMA6B):c.2086C>T (p.Gln696Ter)
|
|
|
NM_032108.4(SEMA6B):c.2138C>T (p.Thr713Met)
|
rs2145342338
|
|
NM_032108.4(SEMA6B):c.481C>G (p.Leu161Val)
|
rs1490417837
|
|
NM_032119.4(ADGRV1):c.3509A>C (p.Tyr1170Ser)
|
rs188772875
|
|
NM_032217.5(ANKRD17):c.5756dup (p.Ala1920fs)
|
rs1722830922
|
|
NM_032228.6(FAR1):c.495_507delinsT (p.Glu165_Pro169delinsAsp)
|
rs727502796
|
|
NM_032228.6(FAR1):c.772G>A (p.Gly258Arg)
|
rs1591268116
|
|
NM_032293.5(GARNL3):c.869A>G (p.Gln290Arg)
|
rs764279982
|
|
NM_032316.3(NICN1):c.*2359_*2468del
|
rs2049123051
|
|
NM_032409.3(PINK1):c.1252-2_1272del
|
|
|
NM_032409.3(PINK1):c.1527_1530dup (p.Leu511fs)
|
|
|
NM_032409.3(PINK1):c.377A>C (p.Gln126Pro)
|
|
|
NM_032409.3(PINK1):c.385C>T (p.Gln129Ter)
|
|
|
NM_032409.3(PINK1):c.774C>A (p.Tyr258Ter)
|
rs756783990
|
|
NM_032409.3(PINK1):c.776+1G>A
|
|
|
NM_032436.4(CHAMP1):c.1440G>A (p.Trp480Ter)
|
|
|
NM_032436.4(CHAMP1):c.1903_1906del (p.Glu635fs)
|
|
|
NM_032436.4(CHAMP1):c.2004_2005del (p.Asn669fs)
|
|
|
NM_032436.4(CHAMP1):c.2027dup (p.Glu677fs)
|
|
|
NM_032436.4(CHAMP1):c.343C>T (p.Gln115Ter)
|
|
|
NM_032436.4(CHAMP1):c.575_576del (p.Pro192fs)
|
|
|
NM_032436.4(CHAMP1):c.661dup (p.Thr221fs)
|
rs1594129609
|
|
NM_032436.4(CHAMP1):c.824_828del (p.Thr274_Ser275insTer)
|
rs2139419505
|
|
NM_032531.4(KIRREL3):c.2019G>A (p.Met673Ile)
|
rs1057519593
|
|
NM_032538.3(TTBK1):c.773G>A (p.Arg258Gln)
|
rs759748655
|
|
NM_032539.5(SLITRK2):c.1121C>G (p.Pro374Arg)
|
rs2073064247
|
|
NM_032539.5(SLITRK2):c.1276C>T (p.Arg426Cys)
|
rs2124181878
|
|
NM_032539.5(SLITRK2):c.1381G>T (p.Glu461Ter)
|
rs2073068605
|
|
NM_032539.5(SLITRK2):c.221T>C (p.Leu74Ser)
|
rs2124152159
|
|
NM_032620.4(GTPBP3):c.865G>T (p.Glu289Ter)
|
rs1599560256
|
|
NM_032630.3(CINP):c.637T>G (p.Ter213Gly)
|
rs1060499740
|
|
NM_032656.4(DHX37):c.1257C>A (p.Asn419Lys)
|
rs1060499737
|
|
NM_032656.4(DHX37):c.499_500inv (p.Glu167Ser)
|
|
|
NM_032756.4(HPDL):c.342_345dup (p.Ala116fs)
|
rs1644248738
|
|
NM_032856.5(WDR73):c.1096_1097del (p.Leu366fs)
|
rs768820873
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
NM_032856.5(WDR73):c.293T>C (p.Leu98Pro)
|
rs863223396
|
|
NM_032856.5(WDR73):c.41+1G>C
|
|
|
NM_032856.5(WDR73):c.525_565dup (p.Asp189delinsValThrValArgSerTer)
|
rs2141837067
|
|
NM_032856.5(WDR73):c.6_9del (p.Asp2fs)
|
|
|
NM_032856.5(WDR73):c.710dup (p.Gly238fs)
|
rs1282630153
|
|
NM_032856.5(WDR73):c.766dup (p.Arg256fs)
|
rs727502864
|
|
NM_032856.5(WDR73):c.767G>A (p.Arg256Gln)
|
rs866551482
|
|
NM_032856.5(WDR73):c.884G>A (p.Gly295Asp)
|
rs1596048227
|
|
NM_033028.5(BBS4):c.221-1047_405+2899del
|
|
|
NM_033071.3(SYNE1):c.[20050C>T];[7938G>A]
|
|
|
NM_033071.3(SYNE1):c.[4482+1G>T];[9646A>T]
|
|
|
NM_033402.5(LRRCC1):c.105-1G>C
|
rs886039794
|
|
NM_033409.4(SLC52A3):c.71G>A (p.Trp24Ter)
|
rs1599959574
|
|
NM_033453.4(ITPA):c.136_138delinsTAA (p.Gln46Ter)
|
rs2067217104
|
|
NM_033453.4(ITPA):c.137del (p.Gln46fs)
|
|
|
NM_033453.4(ITPA):c.271T>C (p.Phe91Leu)
|
rs1600509558
|
|
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
|
rs762292772
|
|
NM_052874.5(STX1B):c.106-1G>C
|
rs2056626672
|
|
NM_052874.5(STX1B):c.205+1G>A
|
rs2143677612
|
|
NM_052874.5(STX1B):c.205+2_205+3del
|
rs2056625682
|
|
NM_052874.5(STX1B):c.281-2A>C
|
rs2143671063
|
|
NM_052874.5(STX1B):c.281-41_294del
|
rs2056602388
|
|
NM_052874.5(STX1B):c.293G>A (p.Ser98Asn)
|
rs781210585
|
|
NM_052874.5(STX1B):c.30+1G>A
|
|
|
NM_052874.5(STX1B):c.315_321dup (p.Ser108fs)
|
|
|
NM_052874.5(STX1B):c.344G>C (p.Arg115Pro)
|
rs868539367
|
|
NM_052874.5(STX1B):c.345dup (p.Lys116fs)
|
|
|
NM_052874.5(STX1B):c.354+1G>A
|
rs1596717264
|
|
NM_052874.5(STX1B):c.354+2T>C
|
rs2143670818
|
|
NM_052874.5(STX1B):c.355-1G>A
|
|
|
NM_052874.5(STX1B):c.355-1_355delinsAA
|
|
|
NM_052874.5(STX1B):c.355-2A>G
|
rs2143669495
|
|
NM_052874.5(STX1B):c.655_660dup (p.Met220_Leu221insAlaMet)
|
|
|
NM_052874.5(STX1B):c.676-2A>G
|
rs2056573081
|
|
NM_052874.5(STX1B):c.686_688del (p.Ile229_Asp230delinsAsn)
|
rs1596714579
|
|
NM_052874.5(STX1B):c.701_702insACATTGACCG (p.Tyr234Ter)
|
rs2143661528
|
|
NM_052874.5(STX1B):c.823G>A (p.Gly275Arg)
|
rs1596714308
|
|
NM_052874.5(STX1B):c.852dup (p.Thr285fs)
|
rs762705451
|
|
NM_052876.4(NACC1):c.1384G>A (p.Asp462Asn)
|
rs2145626399
|
|
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp)
|
rs1060505041
|
|
NM_052988.5(CDK10):c.299_300dup (p.Leu101fs)
|
rs2151576627
|
|
NM_052988.5(CDK10):c.550_556del (p.Leu184fs)
|
rs1597864006
|
|
NM_052988.5(CDK10):c.729del (p.Glu244fs)
|
rs2060622260
|
|
NM_057175.5(NAA15):c.1021del (p.Ile341fs)
|
|
|
NM_057175.5(NAA15):c.1118T>A (p.Leu373Ter)
|
rs2110948948
|
|
NM_057175.5(NAA15):c.1257+1G>A
|
rs1747996495
|
|
NM_057175.5(NAA15):c.134A>G (p.His45Arg)
|
rs2110895965
|
|
NM_057175.5(NAA15):c.139_139+1dup
|
|
|
NM_057175.5(NAA15):c.1549G>C (p.Glu517Gln)
|
|
|
NM_057175.5(NAA15):c.1645C>T (p.Arg549Ter)
|
rs1179904078
|
|
NM_057175.5(NAA15):c.1772del (p.Glu591fs)
|
rs2110977229
|
|
NM_057175.5(NAA15):c.219G>T (p.Leu73Phe)
|
|
|
NM_057175.5(NAA15):c.231dup (p.Lys78fs)
|
rs757423402
|
|
NM_057175.5(NAA15):c.2344C>T (p.Arg782Ter)
|
rs1270628305
|
|
NM_057175.5(NAA15):c.327G>A (p.Trp109Ter)
|
rs2110911054
|
|
NM_057175.5(NAA15):c.395dup (p.Tyr133fs)
|
|
|
NM_057175.5(NAA15):c.403-1G>A
|
rs2110915238
|
|
NM_057175.5(NAA15):c.55-2A>C
|
|
|
NM_057175.5(NAA15):c.655C>T (p.Gln219Ter)
|
|
|
NM_057175.5(NAA15):c.691+1G>A
|
rs1579109565
|
|
NM_057175.5(NAA15):c.779del (p.Tyr260fs)
|
rs2110930242
|
|
NM_057175.5(NAA15):c.839_840del (p.Ile279_Tyr280insTer)
|
|
|
NM_057175.5(NAA15):c.962del (p.Gly321fs)
|
|
|
NM_078629.4(MSL3):c.1036C>T (p.Gln346Ter)
|
rs1555906768
|
|
NM_078629.4(MSL3):c.1065_1066del (p.Ala356fs)
|
rs1555906781
|
|
NM_078629.4(MSL3):c.1372C>T (p.Arg458Ter)
|
rs1555907620
|
|
NM_078629.4(MSL3):c.1374_1381del (p.Leu459fs)
|
rs1555907623
|
|
NM_078629.4(MSL3):c.1381+1G>T
|
rs1555907626
|
|
NM_078629.4(MSL3):c.1436dup (p.Leu480fs)
|
rs1555907653
|
|
NM_078629.4(MSL3):c.1516_1517delinsA (p.Ala506fs)
|
rs1555907864
|
|
NM_078629.4(MSL3):c.923T>C (p.Leu308Pro)
|
rs1555906707
|
|
NM_080425.4(GNAS):c.754_761del (p.Ser252fs)
|
rs2086303843
|
|
NM_080552.3(SLC32A1):c.1382G>A (p.Gly461Asp)
|
rs2084286884
|
|
NM_080552.3(SLC32A1):c.1391C>G (p.Thr464Arg)
|
rs2084286911
|
|
NM_080552.3(SLC32A1):c.1403T>C (p.Leu468Pro)
|
rs2084286998
|
|
NM_080552.3(SLC32A1):c.787G>A (p.Val263Met)
|
rs2145649990
|
|
NM_080552.3(SLC32A1):c.806T>C (p.Leu269Pro)
|
rs2145650002
|
|
NM_080552.3(SLC32A1):c.965T>G (p.Phe322Cys)
|
rs2145650130
|
|
NM_080552.3(SLC32A1):c.989T>C (p.Met330Thr)
|
rs2084284179
|
|
NM_080632.3(UPF3B):c.1060C>T (p.Arg354Ter)
|
rs2056119926
|
|
NM_080632.3(UPF3B):c.1147G>T (p.Glu383Ter)
|
|
|
NM_080632.3(UPF3B):c.240del (p.Phe80fs)
|
|
|
NM_080632.3(UPF3B):c.270T>G (p.Tyr90Ter)
|
|
|
NM_080632.3(UPF3B):c.646_647del (p.Glu216fs)
|
|
|
NM_080632.3(UPF3B):c.982G>T (p.Glu328Ter)
|
rs376175156
|
|
NM_130811.4(SNAP25):c.114+2T>G
|
rs2123019421
|
|
NM_130811.4(SNAP25):c.118A>G (p.Lys40Glu)
|
rs2123063802
|
|
NM_130811.4(SNAP25):c.127G>C (p.Gly43Arg)
|
rs2123063830
|
|
NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)
|
rs797044873
|
|
NM_130811.4(SNAP25):c.149T>C (p.Leu50Ser)
|
rs2123063984
|
|
NM_130811.4(SNAP25):c.170T>G (p.Leu57Arg)
|
rs2123120184
|
|
NM_130811.4(SNAP25):c.197A>C (p.Gln66Pro)
|
rs2064035939
|
|
NM_130811.4(SNAP25):c.212T>C (p.Met71Thr)
|
rs2123120544
|
|
NM_130811.4(SNAP25):c.496G>T (p.Asp166Tyr)
|
rs2123159234
|
|
NM_130811.4(SNAP25):c.497A>G (p.Asp166Gly)
|
rs2123159261
|
|
NM_130811.4(SNAP25):c.520C>T (p.Gln174Ter)
|
rs2123159470
|
|
NM_130811.4(SNAP25):c.521A>C (p.Gln174Pro)
|
rs2123159524
|
|
NM_130811.4(SNAP25):c.575T>C (p.Ile192Thr)
|
rs2123205099
|
|
NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter)
|
rs2064355122
|
|
NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro)
|
rs2064355563
|
|
NM_130811.4(SNAP25):c.596C>G (p.Ala199Gly)
|
rs2123205311
|
|
NM_130811.4(SNAP25):c.596C>T (p.Ala199Val)
|
rs2123205311
|
|
NM_130811.4(SNAP25):c.72+1G>A
|
rs2123003858
|
|
NM_130839.5(UBE3A):c.2483G>A (p.Gly828Asp)
|
rs2074492359
|
|
NM_130839.5(UBE3A):c.2504_2516dup (p.Cys840fs)
|
rs1057518777
|
|
NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala)
|
rs587784000
|
|
NM_133433.4(NIPBL):c.6470A>G (p.Asp2157Gly)
|
rs1752883292
|
|
NM_133444.3(ZNF526):c.479A>C (p.Lys160Thr)
|
rs730882205
|
|
NM_138383.3(MTSS2):c.2011C>T (p.Arg671Trp)
|
rs753688777
|
|
NM_138459.5(NUS1):c.220_244del (p.Gly74fs)
|
|
|
NM_138459.5(NUS1):c.26G>A (p.Trp9Ter)
|
rs2114674308
|
|
NM_138459.5(NUS1):c.439A>T (p.Arg147Ter)
|
|
|
NM_138459.5(NUS1):c.677dup (p.Leu226fs)
|
|
|
NM_138459.5(NUS1):c.692-2A>G
|
rs2114693876
|
|
NM_138576.4(BCL11B):c.1206del (p.Phe403fs)
|
|
|
NM_138576.4(BCL11B):c.1535_1536del (p.Ala512fs)
|
|
|
NM_138576.4(BCL11B):c.1582del (p.His528fs)
|
rs2139757991
|
|
NM_138576.4(BCL11B):c.1742del (p.Gly581fs)
|
rs1886447945
|
|
NM_138576.4(BCL11B):c.2421C>G (p.Asn807Lys)
|
rs888230251
|
|
NM_138576.4(BCL11B):c.2439_2452dup (p.His818fs)
|
rs2139753087
|
|
NM_138576.4(BCL11B):c.2448_2461del (p.Ser817fs)
|
rs2139753037
|
|
NM_138576.4(BCL11B):c.2507G>A (p.Ser836Asn)
|
rs2139752892
|
|
NM_138576.4(BCL11B):c.2513A>G (p.Lys838Arg)
|
|
|
NM_138576.4(BCL11B):c.785G>A (p.Arg262Gln)
|
rs1886516216
|
|
NM_138615.3(DHX30):c.1685A>G (p.His562Arg)
|
rs1060499733
|
|
NM_138706.5(B3GNT6):c.552C>G (p.Asp184Glu)
|
rs781821239
|
|
NM_138775.3(ALKBH8):c.1651C>T (p.Arg551Ter)
|
rs375189195
|
|
NM_138775.3(ALKBH8):c.982C>T (p.Arg328Ter)
|
|
|
NM_139058.3(ARX):c.1039T>G (p.Phe347Val)
|
rs1556054888
|
|
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)
|
rs104894746
|
|
NM_139058.3(ARX):c.1112G>A (p.Arg371Gln)
|
rs2147322042
|
|
NM_139058.3(ARX):c.1128C>G (p.Phe376Leu)
|
rs2048683301
|
|
NM_139058.3(ARX):c.1135C>A (p.Arg379Ser)
|
rs1556049714
|
|
NM_139058.3(ARX):c.1135C>T (p.Arg379Cys)
|
rs1556049714
|
|
NM_139058.3(ARX):c.1187dup (p.Gly397fs)
|
rs1328291159
|
|
NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer)
|
rs1569394026
|
|
NM_139058.3(ARX):c.1531dup (p.Ala511fs)
|
|
|
NM_139058.3(ARX):c.1552del (p.Ala518fs)
|
|
|
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs)
|
rs1601945599
|
|
NM_139058.3(ARX):c.1600G>C (p.Ala534Pro)
|
|
|
NM_139058.3(ARX):c.1607G>C (p.Arg536Thr)
|
rs2048669411
|
|
NM_139058.3(ARX):c.1615G>A (p.Ala539Thr)
|
rs2147318633
|
|
NM_139058.3(ARX):c.1A>T (p.Met1Leu)
|
|
|
NM_139058.3(ARX):c.303_323dup (p.Ala109_Ala115dup)
|
rs2147324381
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)
|
rs1569395541
|
|
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter)
|
rs398122854
|
|
NM_139058.3(ARX):c.84C>A (p.Cys28Ter)
|
rs932485786
|
|
NM_139058.3(ARX):c.989G>A (p.Arg330His)
|
rs886039308
|
|
NM_139058.3(ARX):c.994C>G (p.Arg332Gly)
|
rs2147323593
|
|
NM_139137.4(KCNC2):c.1163T>C (p.Phe388Ser)
|
|
|
NM_139137.4(KCNC2):c.1213A>G (p.Arg405Gly)
|
rs2136944093
|
|
NM_139137.4(KCNC2):c.1408C>T (p.Pro470Ser)
|
rs1881066861
|
|
NM_139137.4(KCNC2):c.487G>A (p.Glu163Lys)
|
|
|
NM_139318.5(KCNH5):c.1382C>A (p.Ala461Glu)
|
|
|
NM_139318.5(KCNH5):c.979C>A (p.Arg327Ser)
|
|
|
NM_139318.5(KCNH5):c.979C>T (p.Arg327Cys)
|
rs1164997707
|
|
NM_144633.3(KCNH8):c.298T>C (p.Tyr100His)
|
|
|
NM_144687.4(NLRP12):c.858C>G (p.Pro286=)
|
rs145171629
|
|
NM_144969.3(ZDHHC15):c.473A>G (p.His158Arg)
|
rs1042821596
|
|
NM_144992.5(VWA3B):c.1191T>G (p.Tyr397Ter)
|
rs546662496
|
|
NM_145239.3(PRRT2):c.1001T>A (p.Ile334Asn)
|
|
|
NM_145239.3(PRRT2):c.250del (p.Ala84fs)
|
rs2142423353
|
|
NM_145239.3(PRRT2):c.304del (p.Glu102fs)
|
rs1567379016
|
|
NM_145239.3(PRRT2):c.341_342del (p.Val114fs)
|
rs1900077598
|
|
NM_145239.3(PRRT2):c.364C>T (p.Gln122Ter)
|
rs1555502665
|
|
NM_145239.3(PRRT2):c.515_516del (p.Leu171_Ser172insTer)
|
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_145239.3(PRRT2):c.835C>G (p.Pro279Ala)
|
|
|
NM_145239.3(PRRT2):c.914G>A (p.Gly305Glu)
|
|
|
NM_145239.3(PRRT2):c.971dup (p.Val325fs)
|
rs796052941
|
|
NM_152296.5(ATP1A3):c.1036T>C (p.Cys346Arg)
|
rs1599719534
|
|
NM_152296.5(ATP1A3):c.1079C>G (p.Thr360Arg)
|
|
|
NM_152296.5(ATP1A3):c.1108A>G (p.Thr370Ala)
|
rs2145972442
|
|
NM_152296.5(ATP1A3):c.1109C>T (p.Thr370Ile)
|
|
|
NM_152296.5(ATP1A3):c.1302+1G>A
|
rs1599719130
|
|
NM_152296.5(ATP1A3):c.1438-2A>G
|
rs2075199553
|
|
NM_152296.5(ATP1A3):c.1630+2T>C
|
rs2145965854
|
|
NM_152296.5(ATP1A3):c.1790G>A (p.Arg597His)
|
rs1599715341
|
|
NM_152296.5(ATP1A3):c.1807-2A>G
|
|
|
NM_152296.5(ATP1A3):c.2051C>A (p.Ser684Tyr)
|
|
|
NM_152296.5(ATP1A3):c.2051C>T (p.Ser684Phe)
|
rs397515577
|
|
NM_152296.5(ATP1A3):c.2094+2_2094+3del
|
|
|
NM_152296.5(ATP1A3):c.2095-1G>A
|
rs2145959709
|
|
NM_152296.5(ATP1A3):c.2144T>C (p.Leu715Pro)
|
rs2075159021
|
|
NM_152296.5(ATP1A3):c.2195C>A (p.Ser732Tyr)
|
rs1599712523
|
|
NM_152296.5(ATP1A3):c.2224G>T (p.Asp742Tyr)
|
rs1135401822
|
|
NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu)
|
rs1599712456
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2303A>G (p.Tyr768Cys)
|
rs1599706613
|
|
NM_152296.5(ATP1A3):c.2324C>T (p.Pro775Leu)
|
rs886041396
|
|
NM_152296.5(ATP1A3):c.2332A>C (p.Thr778Pro)
|
rs1599706511
|
|
NM_152296.5(ATP1A3):c.235del (p.Trp79fs)
|
rs2145983235
|
|
NM_152296.5(ATP1A3):c.2407G>C (p.Gly803Arg)
|
rs2075090666
|
|
NM_152296.5(ATP1A3):c.2415C>A (p.Asp805Glu)
|
rs606231439
|
|
NM_152296.5(ATP1A3):c.2417T>G (p.Met806Arg)
|
rs549006436
|
|
NM_152296.5(ATP1A3):c.2428A>G (p.Ile810Val)
|
|
|
NM_152296.5(ATP1A3):c.2543G>C (p.Gly848Ala)
|
rs1599705281
|
|
NM_152296.5(ATP1A3):c.2552A>G (p.Gln851Arg)
|
rs2145946065
|
|
NM_152296.5(ATP1A3):c.2631dup (p.Leu878fs)
|
rs2145945887
|
|
NM_152296.5(ATP1A3):c.265G>T (p.Gly89Cys)
|
|
|
NM_152296.5(ATP1A3):c.266G>C (p.Gly89Ala)
|
rs1599725621
|
|
NM_152296.5(ATP1A3):c.2677G>C (p.Gly893Arg)
|
rs1568853466
|
|
NM_152296.5(ATP1A3):c.2686T>C (p.Trp896Arg)
|
rs2145945797
|
|
NM_152296.5(ATP1A3):c.2689-1G>T
|
rs2145944794
|
|
NM_152296.5(ATP1A3):c.2733CTT[1] (p.Phe913del)
|
|
|
NM_152296.5(ATP1A3):c.2839G>T (p.Gly947Trp)
|
rs398122887
|
|
NM_152296.5(ATP1A3):c.2851G>A (p.Glu951Lys)
|
rs2145942372
|
|
NM_152296.5(ATP1A3):c.2921+1G>C
|
rs2075058462
|
|
NM_152296.5(ATP1A3):c.2977_2982dup (p.Ile994_Arg995insGluIle)
|
|
|
NM_152296.5(ATP1A3):c.380C>T (p.Ala127Val)
|
rs2075284959
|
|
NM_152296.5(ATP1A3):c.460A>G (p.Met154Val)
|
rs1135401821
|
|
NM_152296.5(ATP1A3):c.724+1G>T
|
rs2075276177
|
|
NM_152296.5(ATP1A3):c.943A>T (p.Ile315Phe)
|
|
|
NM_152296.5(ATP1A3):c.967C>T (p.Pro323Ser)
|
rs864309572
|
|
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg)
|
rs2145977694
|
|
NM_152296.5(ATP1A3):c.974G>A (p.Gly325Asp)
|
rs863224847
|
|
NM_152296.5(ATP1A3):c.977T>C (p.Leu326Pro)
|
|
|
NM_152296.5(ATP1A3):c.994-1G>A
|
|
|
NM_152420.3(CARNMT1):c.230G>A (p.Gly77Asp)
|
rs1822581744
|
|
NM_152515.5(CKAP2L):c.1463_1467del (p.Thr488fs)
|
rs751000250
|
|
NM_152564.5(VPS13B):c.10001_10002del (p.Thr3334fs)
|
rs386834054
|
|
NM_152564.5(VPS13B):c.1001del (p.Tyr334fs)
|
rs1057516324
|
|
NM_152564.5(VPS13B):c.10062-2A>G
|
rs1554581156
|
|
NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter)
|
rs1554625617
|
|
NM_152564.5(VPS13B):c.10106T>G (p.Leu3369Ter)
|
rs1057516437
|
|
NM_152564.5(VPS13B):c.10166_10167del (p.Leu3389fs)
|
rs1554581267
|
|
NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter)
|
rs1554625632
|
|
NM_152564.5(VPS13B):c.10282C>T (p.Gln3428Ter)
|
|
|
NM_152564.5(VPS13B):c.10285dup (p.Leu3429fs)
|
rs1563509743
|
|
NM_152564.5(VPS13B):c.10361_10364del (p.Ile3454fs)
|
rs1554581430
|
|
NM_152564.5(VPS13B):c.10381_10382del (p.Leu3462fs)
|
rs180177371
|
|
NM_152564.5(VPS13B):c.1040del (p.Ser347fs)
|
rs1057516971
|
|
NM_152564.5(VPS13B):c.10440_10441del (p.Cys3481fs)
|
rs1554581504
|
|
NM_152564.5(VPS13B):c.1044G>A (p.Trp348Ter)
|
rs1847921335
|
|
NM_152564.5(VPS13B):c.10555_10556del (p.Leu3519fs)
|
rs1554581632
|
|
NM_152564.5(VPS13B):c.10558_10561del (p.Phe3520fs)
|
rs1354326532
|
|
NM_152564.5(VPS13B):c.10604_10605del (p.His3535fs)
|
rs1554581676
|
|
NM_152564.5(VPS13B):c.10661T>A (p.Leu3554Ter)
|
|
|
NM_152564.5(VPS13B):c.10673dup (p.Lys3559fs)
|
rs1057517137
|
|
NM_152564.5(VPS13B):c.10675A>T (p.Lys3559Ter)
|
|
|
NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs)
|
rs1554625693
|
|
NM_152564.5(VPS13B):c.10735A>T (p.Lys3579Ter)
|
rs1057520769
|
|
NM_152564.5(VPS13B):c.10766_10769del (p.Leu3589fs)
|
rs386834056
|
|
NM_152564.5(VPS13B):c.10772_10774del (p.Phe3591del)
|
rs1554581821
|
|
NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs)
|
rs1057516274
|
|
NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs)
|
rs1554561356
|
|
NM_152564.5(VPS13B):c.10805_10824delinsTT (p.Thr3602_His3608delinsIle)
|
|
|
NM_152564.5(VPS13B):c.10813C>T (p.Gln3605Ter)
|
rs120074154
|
|
NM_152564.5(VPS13B):c.10867+1G>T
|
rs780902262
|
|
NM_152564.5(VPS13B):c.10868-2A>C
|
rs745404712
|
|
NM_152564.5(VPS13B):c.10868-2A>G
|
|
|
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter)
|
rs386834057
|
|
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
|
|
|
NM_152564.5(VPS13B):c.11044+1G>A
|
|
|
NM_152564.5(VPS13B):c.11050del (p.Leu3684fs)
|
rs386834058
|
|
NM_152564.5(VPS13B):c.11105_11114del (p.Ser3702fs)
|
rs1057517202
|
|
NM_152564.5(VPS13B):c.11141G>A (p.Trp3714Ter)
|
rs386834060
|
|
NM_152564.5(VPS13B):c.11162_11163del (p.Ser3721fs)
|
rs1057517376
|
|
NM_152564.5(VPS13B):c.11181_11215+10del
|
|
|
NM_152564.5(VPS13B):c.11216-1G>A
|
rs1057517441
|
|
NM_152564.5(VPS13B):c.11216-2A>G
|
rs867112705
|
|
NM_152564.5(VPS13B):c.11236del (p.Asp3746fs)
|
rs1347701279
|
|
NM_152564.5(VPS13B):c.11263del (p.Thr3755fs)
|
rs1057516245
|
|
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)
|
rs1554586953
|
|
NM_152564.5(VPS13B):c.11360del (p.Gly3787fs)
|
rs1554586972
|
|
NM_152564.5(VPS13B):c.11380_11381del (p.Gln3794fs)
|
rs1554586994
|
|
NM_152564.5(VPS13B):c.11392+1G>T
|
rs1554587021
|
|
NM_152564.5(VPS13B):c.11393-1G>A
|
rs747363890
|
|
NM_152564.5(VPS13B):c.11393-1G>C
|
|
|
NM_152564.5(VPS13B):c.11430del (p.Lys3810fs)
|
rs386834062
|
|
NM_152564.5(VPS13B):c.11471_11474delinsTGT (p.Pro3824fs)
|
rs1057516284
|
|
NM_152564.5(VPS13B):c.11481dup (p.Val3828fs)
|
rs386834063
|
|
NM_152564.5(VPS13B):c.11489del (p.Tyr3830fs)
|
rs386834064
|
|
NM_152564.5(VPS13B):c.11495+178_11507delinsCAG
|
|
|
NM_152564.5(VPS13B):c.11495+1G>A
|
|
|
NM_152564.5(VPS13B):c.11496-2A>G
|
rs1554588353
|
|
NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter)
|
rs1554625838
|
|
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs)
|
rs1588811810
|
|
NM_152564.5(VPS13B):c.11523del (p.Glu3842fs)
|
rs386834065
|
|
NM_152564.5(VPS13B):c.11575del (p.His3859fs)
|
rs1057516651
|
|
NM_152564.5(VPS13B):c.11583dup (p.Cys3862fs)
|
rs1057517438
|
|
NM_152564.5(VPS13B):c.11600C>A (p.Ser3867Ter)
|
rs1057517385
|
|
NM_152564.5(VPS13B):c.11620_11621del (p.Ser3874fs)
|
rs1554588477
|
|
NM_152564.5(VPS13B):c.11620_11623del (p.Ser3876fs)
|
rs386834066
|
|
NM_152564.5(VPS13B):c.11630_11631delinsC (p.Glu3877fs)
|
rs1554588489
|
|
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)
|
rs1180933570
|
|
NM_152564.5(VPS13B):c.11699_11702dup (p.Val3903fs)
|
rs1364947213
|
|
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)
|
rs1161589003
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAA (p.Thr3902_Val3903delinsLys)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.11705_11709delinsAGAA (p.Thr3902fs)
|
rs386834067
|
|
NM_152564.5(VPS13B):c.11748_11751dup (p.Gly3918fs)
|
rs1554590314
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
NM_152564.5(VPS13B):c.11809_11810dup (p.Thr3938fs)
|
rs1371736348
|
|
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs)
|
rs386834069
|
|
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)
|
rs786204456
|
|
NM_152564.5(VPS13B):c.11832dup (p.Ser3945fs)
|
rs180177374
|
|
NM_152564.5(VPS13B):c.11838T>A (p.Cys3946Ter)
|
rs773094891
|
|
NM_152564.5(VPS13B):c.1187del (p.Lys396fs)
|
rs1554625872
|
|
NM_152564.5(VPS13B):c.11880dup (p.Pro3961fs)
|
rs1057517328
|
|
NM_152564.5(VPS13B):c.1219C>T (p.Gln407Ter)
|
rs386834070
|
|
NM_152564.5(VPS13B):c.1225G>T (p.Glu409Ter)
|
rs386834071
|
|
NM_152564.5(VPS13B):c.1269_1273del (p.Cys425fs)
|
rs386834072
|
|
NM_152564.5(VPS13B):c.1275T>A (p.Cys425Ter)
|
|
|
NM_152564.5(VPS13B):c.1303-1G>C
|
rs1554634091
|
|
NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer)
|
rs1408744761
|
|
NM_152564.5(VPS13B):c.148-2A>G
|
rs768406797
|
|
NM_152564.5(VPS13B):c.1482del (p.Thr495fs)
|
rs2132556658
|
|
NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs)
|
rs1057517319
|
|
NM_152564.5(VPS13B):c.1563+1G>A
|
rs1057516923
|
|
NM_152564.5(VPS13B):c.1563+1G>T
|
rs1057516923
|
|
NM_152564.5(VPS13B):c.1563G>A (p.Lys521=)
|
rs180177355
|
|
NM_152564.5(VPS13B):c.1564G>T (p.Glu522Ter)
|
|
|
NM_152564.5(VPS13B):c.1652-2A>T
|
rs2132580903
|
|
NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs)
|
rs1057517177
|
|
NM_152564.5(VPS13B):c.1669del (p.Asp557fs)
|
rs1057517283
|
|
NM_152564.5(VPS13B):c.1843+1G>A
|
|
|
NM_152564.5(VPS13B):c.1844-2A>G
|
rs386834073
|
|
NM_152564.5(VPS13B):c.1944T>A (p.Cys648Ter)
|
|
|
NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs)
|
rs1057517338
|
|
NM_152564.5(VPS13B):c.2013+2341_2166del
|
|
|
NM_152564.5(VPS13B):c.2018C>G (p.Ser673Ter)
|
rs1554645551
|
|
NM_152564.5(VPS13B):c.2047del (p.Gln683fs)
|
rs386834074
|
|
NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)
|
rs777593389
|
|
NM_152564.5(VPS13B):c.2178_2200del (p.His727fs)
|
rs2132624625
|
|
NM_152564.5(VPS13B):c.219_220delinsT (p.Lys73fs)
|
rs386834075
|
|
NM_152564.5(VPS13B):c.2209-2A>G
|
|
|
NM_152564.5(VPS13B):c.2221C>T (p.Gln741Ter)
|
|
|
NM_152564.5(VPS13B):c.2268del (p.Val757fs)
|
rs1057516532
|
|
NM_152564.5(VPS13B):c.22_23delinsA (p.Pro8fs)
|
rs386834076
|
|
NM_152564.5(VPS13B):c.2333+1G>T
|
rs1812243683
|
|
NM_152564.5(VPS13B):c.2333+2T>C
|
rs1554652265
|
|
NM_152564.5(VPS13B):c.2334-2A>G
|
rs1554665974
|
|
NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter)
|
rs1057516681
|
|
NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter)
|
rs1554666009
|
|
NM_152564.5(VPS13B):c.2516-2A>G
|
rs1554706114
|
|
NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs)
|
rs1554706149
|
|
NM_152564.5(VPS13B):c.2591C>A (p.Ser864Ter)
|
rs140936527
|
|
NM_152564.5(VPS13B):c.2650+1G>A
|
rs1554706285
|
|
NM_152564.5(VPS13B):c.2651-1G>A
|
rs386834077
|
|
NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs)
|
rs1554706662
|
|
NM_152564.5(VPS13B):c.2727_2730dup (p.Asn911fs)
|
rs180177357
|
|
NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs)
|
rs1057517255
|
|
NM_152564.5(VPS13B):c.2824+2T>G
|
rs141703746
|
|
NM_152564.5(VPS13B):c.2828del (p.Ala943fs)
|
rs1554765140
|
|
NM_152564.5(VPS13B):c.2855del (p.Leu952fs)
|
rs1554765173
|
|
NM_152564.5(VPS13B):c.2889del (p.Trp963fs)
|
rs1563700124
|
|
NM_152564.5(VPS13B):c.2908A>T (p.Lys970Ter)
|
|
|
NM_152564.5(VPS13B):c.291+1G>A
|
rs1057516857
|
|
NM_152564.5(VPS13B):c.291+2T>A
|
|
|
NM_152564.5(VPS13B):c.292-2A>G
|
rs386834079
|
|
NM_152564.5(VPS13B):c.292-7A>G
|
rs1554612610
|
|
NM_152564.5(VPS13B):c.2934+1G>T
|
rs775729058
|
|
NM_152564.5(VPS13B):c.2934+1_2934+2del
|
rs180177358
|
|
NM_152564.5(VPS13B):c.2934+2T>A
|
|
|
NM_152564.5(VPS13B):c.2935-1G>A
|
rs2133312466
|
|
NM_152564.5(VPS13B):c.2980A>T (p.Lys994Ter)
|
|
|
NM_152564.5(VPS13B):c.3020del (p.Lys1007fs)
|
rs1554767735
|
|
NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer)
|
rs1057516670
|
|
NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs)
|
rs1057516834
|
|
NM_152564.5(VPS13B):c.3082+1G>A
|
|
|
NM_152564.5(VPS13B):c.3083-1G>A
|
rs1563726973
|
|
NM_152564.5(VPS13B):c.3096del (p.Leu1032fs)
|
rs1554788238
|
|
NM_152564.5(VPS13B):c.3104del (p.Pro1035fs)
|
rs1057516926
|
|
NM_152564.5(VPS13B):c.3133del (p.Ser1045fs)
|
rs1057517447
|
|
NM_152564.5(VPS13B):c.3154A>T (p.Arg1052Ter)
|
|
|
NM_152564.5(VPS13B):c.3160A>T (p.Lys1054Ter)
|
|
|
NM_152564.5(VPS13B):c.3172G>T (p.Gly1058Ter)
|
|
|
NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)
|
rs764544747
|
|
NM_152564.5(VPS13B):c.3309G>A (p.Trp1103Ter)
|
|
|
NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs)
|
rs1554793521
|
|
NM_152564.5(VPS13B):c.3439G>T (p.Glu1147Ter)
|
|
|
NM_152564.5(VPS13B):c.3445+1G>T
|
rs1034855385
|
|
NM_152564.5(VPS13B):c.3445+2T>A
|
|
|
NM_152564.5(VPS13B):c.3446-1G>A
|
|
|
NM_152564.5(VPS13B):c.3446-382_3463del
|
rs1588410519
|
|
NM_152564.5(VPS13B):c.3618T>A (p.Cys1206Ter)
|
rs386834081
|
|
NM_152564.5(VPS13B):c.3666+1G>T
|
rs1554807146
|
|
NM_152564.5(VPS13B):c.3666+2T>A
|
rs386834082
|
|
NM_152564.5(VPS13B):c.3666+2T>C
|
rs386834082
|
|
NM_152564.5(VPS13B):c.3667-1G>A
|
rs750609612
|
|
NM_152564.5(VPS13B):c.3681T>A (p.Tyr1227Ter)
|
rs1554814266
|
|
NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs)
|
rs1554814271
|
|
NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter)
|
rs1057516422
|
|
NM_152564.5(VPS13B):c.3782del (p.Pro1261fs)
|
rs753645306
|
|
NM_152564.5(VPS13B):c.3870+1G>A
|
rs764225649
|
|
NM_152564.5(VPS13B):c.3870+1G>T
|
rs764225649
|
|
NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs)
|
rs1057516653
|
|
NM_152564.5(VPS13B):c.4042+2T>C
|
rs1554822819
|
|
NM_152564.5(VPS13B):c.404dup (p.Leu135fs)
|
rs386834083
|
|
NM_152564.5(VPS13B):c.4119T>A (p.Cys1373Ter)
|
|
|
NM_152564.5(VPS13B):c.412+1G>A
|
rs1057517295
|
|
NM_152564.5(VPS13B):c.412+1G>C
|
rs1057517295
|
|
NM_152564.5(VPS13B):c.412+2T>C
|
|
|
NM_152564.5(VPS13B):c.4157+2T>G
|
|
|
NM_152564.5(VPS13B):c.4225-1G>A
|
rs2133637043
|
|
NM_152564.5(VPS13B):c.424_425del (p.Leu143fs)
|
rs1057517076
|
|
NM_152564.5(VPS13B):c.4259del (p.Gln1420fs)
|
rs386834084
|
|
NM_152564.5(VPS13B):c.4286_4287insT (p.Ala1431fs)
|
rs2133637251
|
|
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
|
|
|
NM_152564.5(VPS13B):c.4319T>A (p.Leu1440Ter)
|
|
|
NM_152564.5(VPS13B):c.4321dup (p.Thr1441fs)
|
rs386834085
|
|
NM_152564.5(VPS13B):c.4399del (p.Ile1467fs)
|
rs386834087
|
|
NM_152564.5(VPS13B):c.4402CTT[1] (p.Leu1469del)
|
rs386834088
|
|
NM_152564.5(VPS13B):c.4445T>A (p.Leu1482Ter)
|
|
|
NM_152564.5(VPS13B):c.4471C>T (p.Gln1491Ter)
|
|
|
NM_152564.5(VPS13B):c.4497dup (p.Glu1500fs)
|
rs386834089
|
|
NM_152564.5(VPS13B):c.4539_4540del (p.Leu1514fs)
|
rs1554826566
|
|
NM_152564.5(VPS13B):c.4556T>A (p.Leu1519Ter)
|
|
|
NM_152564.5(VPS13B):c.4633+1G>A
|
|
|
NM_152564.5(VPS13B):c.4634-2A>G
|
rs2133668102
|
|
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs)
|
rs386834090
|
|
NM_152564.5(VPS13B):c.4745+2T>C
|
rs386834091
|
|
NM_152564.5(VPS13B):c.4746-1G>T
|
rs768342041
|
|
NM_152564.5(VPS13B):c.4746-2A>T
|
rs1554843814
|
|
NM_152564.5(VPS13B):c.4771C>T (p.Arg1591Ter)
|
rs752429062
|
|
NM_152564.5(VPS13B):c.4803_4805dup (p.Tyr1602Ter)
|
rs180177359
|
|
NM_152564.5(VPS13B):c.4819C>T (p.Gln1607Ter)
|
rs1588491546
|
|
NM_152564.5(VPS13B):c.4848G>A (p.Trp1616Ter)
|
rs180177360
|
|
NM_152564.5(VPS13B):c.4867A>T (p.Lys1623Ter)
|
|
|
NM_152564.5(VPS13B):c.4894dup (p.Thr1632fs)
|
rs1554843942
|
|
NM_152564.5(VPS13B):c.4950-1G>C
|
rs1554852945
|
|
NM_152564.5(VPS13B):c.4950-2A>G
|
|
|
NM_152564.5(VPS13B):c.5076+1G>C
|
|
|
NM_152564.5(VPS13B):c.5076+1G>T
|
|
|
NM_152564.5(VPS13B):c.5077-62_5084delinsAAGTAAGG
|
|
|
NM_152564.5(VPS13B):c.5140_5157del (p.Ser1714_Gln1719del)
|
rs180177362
|
|
NM_152564.5(VPS13B):c.5148del (p.Gln1717fs)
|
rs2133812056
|
|
NM_152564.5(VPS13B):c.5154delinsCC (p.Gln1719fs)
|
rs1554853667
|
|
NM_152564.5(VPS13B):c.5169del (p.Gln1723fs)
|
rs1554853676
|
|
NM_152564.5(VPS13B):c.5226dup (p.Lys1743Ter)
|
rs1554884575
|
|
NM_152564.5(VPS13B):c.5256dup (p.Asp1753Ter)
|
rs386834094
|
|
NM_152564.5(VPS13B):c.5350dup (p.Glu1784fs)
|
rs1829386213
|
|
NM_152564.5(VPS13B):c.5351_5352dup (p.Gln1785fs)
|
rs180177363
|
|
NM_152564.5(VPS13B):c.5386dup (p.Arg1796fs)
|
rs180177364
|
|
NM_152564.5(VPS13B):c.5538_5539insT (p.Lys1847Ter)
|
rs1554884838
|
|
NM_152564.5(VPS13B):c.5652del (p.Lys1887_Ile1888insTer)
|
rs1554884932
|
|
NM_152564.5(VPS13B):c.5662dup (p.Ile1888fs)
|
rs386834096
|
|
NM_152564.5(VPS13B):c.5675del (p.Ser1892fs)
|
rs386834097
|
|
NM_152564.5(VPS13B):c.5734_5735del (p.Ile1912fs)
|
rs386834098
|
|
NM_152564.5(VPS13B):c.580+1G>A
|
rs1846848656
|
|
NM_152564.5(VPS13B):c.580+1G>T
|
rs1846848656
|
|
NM_152564.5(VPS13B):c.580+2T>C
|
|
|
NM_152564.5(VPS13B):c.581-1G>A
|
|
|
NM_152564.5(VPS13B):c.5829T>A (p.Cys1943Ter)
|
|
|
NM_152564.5(VPS13B):c.5908+2dup
|
rs587777381
|
|
NM_152564.5(VPS13B):c.5909-1G>T
|
rs1057516694
|
|
NM_152564.5(VPS13B):c.5923_5924del (p.Leu1975fs)
|
rs886041323
|
|
NM_152564.5(VPS13B):c.5927del (p.Pro1976fs)
|
rs755125969
|
|
NM_152564.5(VPS13B):c.5959C>T (p.Gln1987Ter)
|
|
|
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)
|
rs1357171752
|
|
NM_152564.5(VPS13B):c.6046+1G>C
|
rs750003804
|
|
NM_152564.5(VPS13B):c.6046+1G>T
|
rs750003804
|
|
NM_152564.5(VPS13B):c.6047-1G>A
|
rs750092574
|
|
NM_152564.5(VPS13B):c.6047-5_6047del
|
rs1057516841
|
|
NM_152564.5(VPS13B):c.6082del (p.Ala2028fs)
|
rs1554911430
|
|
NM_152564.5(VPS13B):c.6125dup (p.Leu2042fs)
|
rs1554911481
|
|
NM_152564.5(VPS13B):c.626_627del (p.Thr209fs)
|
rs386834100
|
|
NM_152564.5(VPS13B):c.6299G>A (p.Trp2100Ter)
|
rs1057516331
|
|
NM_152564.5(VPS13B):c.6319C>T (p.Gln2107Ter)
|
rs1057516489
|
|
NM_152564.5(VPS13B):c.6343C>T (p.Gln2115Ter)
|
rs1057516287
|
|
NM_152564.5(VPS13B):c.6345_6346del (p.Gln2115fs)
|
rs386834101
|
|
NM_152564.5(VPS13B):c.6454+1G>C
|
rs1235993153
|
|
NM_152564.5(VPS13B):c.6470C>A (p.Ser2157Ter)
|
rs1057516494
|
|
NM_152564.5(VPS13B):c.6473C>G (p.Ser2158Ter)
|
|
|
NM_152564.5(VPS13B):c.6505A>T (p.Lys2169Ter)
|
|
|
NM_152564.5(VPS13B):c.6508del (p.Thr2170fs)
|
rs1057517318
|
|
NM_152564.5(VPS13B):c.6552T>A (p.Cys2184Ter)
|
|
|
NM_152564.5(VPS13B):c.6612del (p.Gln2204fs)
|
rs386834102
|
|
NM_152564.5(VPS13B):c.6655C>T (p.Gln2219Ter)
|
rs1057516663
|
|
NM_152564.5(VPS13B):c.6657+1G>T
|
rs180177366
|
|
NM_152564.5(VPS13B):c.6658-2A>G
|
rs386834103
|
|
NM_152564.5(VPS13B):c.6829del (p.Leu2277fs)
|
rs1057516302
|
|
NM_152564.5(VPS13B):c.6982del (p.Thr2328fs)
|
rs1554924412
|
|
NM_152564.5(VPS13B):c.7048C>T (p.Gln2350Ter)
|
rs767858119
|
|
NM_152564.5(VPS13B):c.7050+1G>T
|
rs1057516840
|
|
NM_152564.5(VPS13B):c.7073G>A (p.Trp2358Ter)
|
rs1057516559
|
|
NM_152564.5(VPS13B):c.7146del (p.Gln2382fs)
|
rs386834105
|
|
NM_152564.5(VPS13B):c.7177A>T (p.Lys2393Ter)
|
|
|
NM_152564.5(VPS13B):c.7180A>T (p.Lys2394Ter)
|
rs1057516660
|
|
NM_152564.5(VPS13B):c.7217del (p.Asn2406fs)
|
rs886041184
|
|
NM_152564.5(VPS13B):c.7247+2043_7403del
|
|
|
NM_152564.5(VPS13B):c.7247+2T>C
|
rs1563908020
|
|
NM_152564.5(VPS13B):c.7248-1G>C
|
rs763079458
|
|
NM_152564.5(VPS13B):c.7311_7312insAGGCA (p.Ala2438fs)
|
rs1554952465
|
|
NM_152564.5(VPS13B):c.7314dup (p.Cys2439fs)
|
rs1554952467
|
|
NM_152564.5(VPS13B):c.7317T>A (p.Cys2439Ter)
|
|
|
NM_152564.5(VPS13B):c.7365del (p.Cys2455fs)
|
rs1811766430
|
|
NM_152564.5(VPS13B):c.7396del (p.His2466fs)
|
rs1554952554
|
|
NM_152564.5(VPS13B):c.7429+2T>C
|
rs1057517393
|
|
NM_152564.5(VPS13B):c.7480G>T (p.Glu2494Ter)
|
|
|
NM_152564.5(VPS13B):c.7525C>G (p.Leu2509Val)
|
rs1811867338
|
|
NM_152564.5(VPS13B):c.7535G>A (p.Trp2512Ter)
|
rs386834108
|
|
NM_152564.5(VPS13B):c.760A>T (p.Lys254Ter)
|
rs910393433
|
|
NM_152564.5(VPS13B):c.762+1G>A
|
|
|
NM_152564.5(VPS13B):c.762+2T>C
|
rs1588048848
|
|
NM_152564.5(VPS13B):c.763-1G>T
|
|
|
NM_152564.5(VPS13B):c.7651C>T (p.Gln2551Ter)
|
rs2130679206
|
|
NM_152564.5(VPS13B):c.7779+1G>C
|
|
|
NM_152564.5(VPS13B):c.7779+1G>T
|
|
|
NM_152564.5(VPS13B):c.7861del (p.Gln2621fs)
|
rs386834109
|
|
NM_152564.5(VPS13B):c.7941+1G>A
|
rs1554955952
|
|
NM_152564.5(VPS13B):c.795_798del (p.Ile266fs)
|
rs1554622608
|
|
NM_152564.5(VPS13B):c.7964_7989del (p.Gly2655fs)
|
rs1554560668
|
|
NM_152564.5(VPS13B):c.79C>T (p.Gln27Ter)
|
|
|
NM_152564.5(VPS13B):c.803del (p.Asp268fs)
|
rs1554622622
|
|
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs)
|
rs1554560735
|
|
NM_152564.5(VPS13B):c.8098-1G>C
|
rs1554565484
|
|
NM_152564.5(VPS13B):c.80A>G (p.Gln27Arg)
|
rs1587912461
|
|
NM_152564.5(VPS13B):c.8171_8175del (p.Tyr2724fs)
|
rs1554565537
|
|
NM_152564.5(VPS13B):c.8182del (p.Asp2728fs)
|
rs1554565558
|
|
NM_152564.5(VPS13B):c.8266del (p.Glu2755_Leu2756insTer)
|
rs386834111
|
|
NM_152564.5(VPS13B):c.8361+1G>A
|
rs542757501
|
|
NM_152564.5(VPS13B):c.8362-1G>C
|
|
|
NM_152564.5(VPS13B):c.8396G>A (p.Trp2799Ter)
|
rs1057516484
|
|
NM_152564.5(VPS13B):c.8445+1G>C
|
|
|
NM_152564.5(VPS13B):c.8445+2T>C
|
rs1554566396
|
|
NM_152564.5(VPS13B):c.8446-1G>T
|
rs1554566596
|
|
NM_152564.5(VPS13B):c.8536del (p.Thr2846fs)
|
rs386834114
|
|
NM_152564.5(VPS13B):c.8559del (p.Gln2854fs)
|
rs765302278
|
|
NM_152564.5(VPS13B):c.8621+2T>G
|
rs1057517236
|
|
NM_152564.5(VPS13B):c.8622-2A>G
|
rs386834115
|
|
NM_152564.5(VPS13B):c.8622-9A>G
|
rs386834116
|
|
NM_152564.5(VPS13B):c.8626G>T (p.Glu2876Ter)
|
rs747644844
|
|
NM_152564.5(VPS13B):c.8793-2A>G
|
|
|
NM_152564.5(VPS13B):c.8870T>A (p.Leu2957Ter)
|
rs727504219
|
|
NM_152564.5(VPS13B):c.8883del (p.Trp2963fs)
|
rs1057516845
|
|
NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer)
|
rs1554622718
|
|
NM_152564.5(VPS13B):c.8953C>T (p.Gln2985Ter)
|
rs1057516558
|
|
NM_152564.5(VPS13B):c.8991del (p.Gln2998fs)
|
rs1057516276
|
|
NM_152564.5(VPS13B):c.8995-1G>A
|
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
NM_152564.5(VPS13B):c.9009del (p.Ile3003fs)
|
rs1057516538
|
|
NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)
|
rs759536357
|
|
NM_152564.5(VPS13B):c.916_917del (p.Asp306fs)
|
rs386834117
|
|
NM_152564.5(VPS13B):c.9182del (p.Lys3061fs)
|
rs1057516789
|
|
NM_152564.5(VPS13B):c.9183+1G>A
|
rs2130822351
|
|
NM_152564.5(VPS13B):c.9183+2T>G
|
|
|
NM_152564.5(VPS13B):c.9184-1G>A
|
|
|
NM_152564.5(VPS13B):c.9184-2A>G
|
|
|
NM_152564.5(VPS13B):c.9184-2_9184del
|
rs1057516807
|
|
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)
|
rs180177329
|
|
NM_152564.5(VPS13B):c.9261_9267del (p.Asn3088fs)
|
|
|
NM_152564.5(VPS13B):c.9300_9303del (p.Val3102fs)
|
rs773945333
|
|
NM_152564.5(VPS13B):c.9330+1G>A
|
|
|
NM_152564.5(VPS13B):c.9330+1G>C
|
rs756013171
|
|
NM_152564.5(VPS13B):c.9331-1G>A
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
NM_152564.5(VPS13B):c.937+1G>A
|
|
|
NM_152564.5(VPS13B):c.938-1G>C
|
rs2132515671
|
|
NM_152564.5(VPS13B):c.9394A>T (p.Lys3132Ter)
|
|
|
NM_152564.5(VPS13B):c.9394_9398del (p.Lys3132fs)
|
rs2130858031
|
|
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter)
|
rs753770252
|
|
NM_152564.5(VPS13B):c.9562_9565del (p.Gln3188fs)
|
rs1554574028
|
|
NM_152564.5(VPS13B):c.9614+1G>T
|
rs1057517168
|
|
NM_152564.5(VPS13B):c.9615-2A>C
|
rs386834120
|
|
NM_152564.5(VPS13B):c.9615-2A>G
|
rs386834120
|
|
NM_152564.5(VPS13B):c.9631del (p.Tyr3211fs)
|
rs386834121
|
|
NM_152564.5(VPS13B):c.9656del (p.Tyr3219fs)
|
rs386834122
|
|
NM_152564.5(VPS13B):c.9685C>T (p.Arg3229Ter)
|
rs941969577
|
|
NM_152564.5(VPS13B):c.9701del (p.Asn3234fs)
|
rs2130865566
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|
NM_152564.5(VPS13B):c.9739A>T (p.Lys3247Ter)
|
|
|
NM_152564.5(VPS13B):c.9742+1G>A
|
|
|
NM_152564.5(VPS13B):c.9742+1G>T
|
rs759374475
|
|
NM_152564.5(VPS13B):c.9742+2T>C
|
rs1434569440
|
|
NM_152564.5(VPS13B):c.9743-2A>C
|
rs1815345770
|
|
NM_152564.5(VPS13B):c.9743-5_9744del
|
|
|
NM_152564.5(VPS13B):c.9756del (p.Phe3252fs)
|
rs768801125
|
|
NM_152564.5(VPS13B):c.9775del (p.Ile3259fs)
|
rs774357106
|
|
NM_152564.5(VPS13B):c.9830del (p.Pro3277fs)
|
rs1057516568
|
|
NM_152564.5(VPS13B):c.9880_9881del (p.Pro3294fs)
|
rs1057516614
|
|
NM_152564.5(VPS13B):c.9916del (p.Ile3306fs)
|
rs1554575679
|
|
NM_152564.5(VPS13B):c.9934_9942+5del
|
rs1554575693
|
|
NM_152564.5(VPS13B):c.9940_9941insTTT (p.Gln3314delinsLeuTer)
|
rs1301330402
|
|
NM_152564.5(VPS13B):c.9942+1G>A
|
rs1057517063
|
|
NM_152564.5(VPS13B):c.9942+1G>T
|
rs1057517063
|
|
NM_152617.4(RNF168):c.559-1_560del
|
|
|
NM_152617.4(RNF168):c.659_662del (p.Arg220fs)
|
rs755314562
|
|
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter)
|
rs796052242
|
|
NM_152641.4(ARID2):c.109dup (p.Ile37fs)
|
rs2137959601
|
|
NM_152641.4(ARID2):c.1284_1288del (p.Met428fs)
|
rs2138132620
|
|
NM_152641.4(ARID2):c.1716-2A>G
|
rs113548014
|
|
NM_152641.4(ARID2):c.1746_1747del (p.Arg582fs)
|
|
|
NM_152641.4(ARID2):c.2659C>T (p.Gln887Ter)
|
|
|
NM_152641.4(ARID2):c.2828T>G (p.Ile943Ser)
|
rs2138166428
|
|
NM_152641.4(ARID2):c.3037C>T (p.Gln1013Ter)
|
rs2138168418
|
|
NM_152641.4(ARID2):c.3643C>T (p.Gln1215Ter)
|
|
|
NM_152641.4(ARID2):c.3927_3928del (p.Gly1310fs)
|
rs1592121202
|
|
NM_152641.4(ARID2):c.4126_4142del (p.Ile1376fs)
|
|
|
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter)
|
rs772995852
|
|
NM_152641.4(ARID2):c.4942_4943del (p.Gln1648fs)
|
rs2138231889
|
|
NM_152641.4(ARID2):c.542_552del (p.Thr181fs)
|
|
|
NM_152641.4(ARID2):c.791G>A (p.Trp264Ter)
|
|
|
NM_152641.4(ARID2):c.820C>T (p.Arg274Ter)
|
rs1943228378
|
|
NM_152641.4(ARID2):c.890C>T (p.Ser297Phe)
|
|
|
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln)
|
rs878855336
|
|
NM_152703.5(SAMD9L):c.2722A>G (p.Ile908Val)
|
rs1792226793
|
|
NM_152703.5(SAMD9L):c.2905A>G (p.Thr969Ala)
|
rs1792213890
|
|
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser)
|
rs878855337
|
|
NM_152703.5(SAMD9L):c.[1076G>A;3353A>G]
|
|
|
NM_152722.5(HEPACAM):c.275G>A (p.Arg92Gln)
|
rs387907050
|
|
NM_152722.5(HEPACAM):c.359A>G (p.Tyr120Cys)
|
rs1565339091
|
|
NM_152722.5(HEPACAM):c.442C>T (p.Pro148Ser)
|
rs1555055028
|
|
NM_152743.4(BRAT1):c.1016-1G>C
|
|
|
NM_152743.4(BRAT1):c.1135-1G>T
|
|
|
NM_152743.4(BRAT1):c.1322-2A>G
|
rs2128390167
|
|
NM_152743.4(BRAT1):c.1371_1395+16del
|
rs1224820591
|
|
NM_152743.4(BRAT1):c.1395+2T>A
|
rs1779105755
|
|
NM_152743.4(BRAT1):c.1499-1G>T
|
rs1778987915
|
|
NM_152743.4(BRAT1):c.1598-1G>A
|
|
|
NM_152743.4(BRAT1):c.1710del (p.Gln571fs)
|
rs756489141
|
|
NM_152743.4(BRAT1):c.196C>T (p.Gln66Ter)
|
|
|
NM_152743.4(BRAT1):c.283-1G>A
|
|
|
NM_152743.4(BRAT1):c.283-2A>G
|
|
|
NM_152743.4(BRAT1):c.394_423dup (p.Ala141_Asp142insGlnHisProSerAlaLeuArgPheLeuAla)
|
|
|
NM_152743.4(BRAT1):c.804-1G>T
|
|
|
NM_152743.4(BRAT1):c.924-1G>A
|
|
|
NM_153033.5(KCTD7):c.145-2A>G
|
rs1554397774
|
|
NM_153033.5(KCTD7):c.207_214del (p.Cys71fs)
|
|
|
NM_153033.5(KCTD7):c.208C>T (p.Arg70Trp)
|
rs867319899
|
|
NM_153033.5(KCTD7):c.294C>T (p.Asp98=)
|
|
|
NM_153033.5(KCTD7):c.314+1G>A
|
rs1554397834
|
|
NM_153033.5(KCTD7):c.393C>G (p.Tyr131Ter)
|
|
|
NM_153033.5(KCTD7):c.458G>C (p.Arg153Pro)
|
rs765235486
|
|
NM_153033.5(KCTD7):c.493+2_493+6del
|
rs2116774137
|
|
NM_153033.5(KCTD7):c.520G>A (p.Ala174Thr)
|
|
|
NM_153033.5(KCTD7):c.604del (p.Tyr202fs)
|
|
|
NM_153033.5(KCTD7):c.685G>T (p.Asp229Tyr)
|
rs2116775490
|
|
NM_153033.5(KCTD7):c.731del (p.Leu244fs)
|
rs2116775575
|
|
NM_153033.5(KCTD7):c.793G>A (p.Gly265Arg)
|
rs200415747
|
|
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
|
rs1456714047
|
|
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
|
|
|
NM_153240.5(NPHP3):c.187_194del (p.Gly63fs)
|
rs2108007892
|
|
NM_153240.5(NPHP3):c.1888-7_1893del
|
rs1553773296
|
|
NM_153240.5(NPHP3):c.52del (p.Asp18fs)
|
rs2108008280
|
|
NM_153252.5(BRWD3):c.144G>A (p.Trp48Ter)
|
|
|
NM_153252.5(BRWD3):c.1522-1G>C
|
rs2147755986
|
|
NM_153252.5(BRWD3):c.2095C>T (p.Arg699Ter)
|
|
|
NM_153252.5(BRWD3):c.256G>A (p.Glu86Lys)
|
rs1569290395
|
|
NM_153252.5(BRWD3):c.3893T>A (p.Leu1298Ter)
|
rs750080794
|
|
NM_153252.5(BRWD3):c.3899dup (p.Cys1300fs)
|
|
|
NM_153252.5(BRWD3):c.4006-1G>A
|
|
|
NM_153252.5(BRWD3):c.439dup (p.Thr147fs)
|
|
|
NM_153252.5(BRWD3):c.94dup (p.Leu32fs)
|
|
|
NM_153682.3(PIGP):c.384del (p.Glu129fs)
|
rs778481061
|
|
NM_153704.6(TMEM67):c.1132-2A>G
|
|
|
NM_153704.6(TMEM67):c.114del (p.Phe39fs)
|
|
|
NM_153704.6(TMEM67):c.1847C>A (p.Ala616Asp)
|
|
|
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
|
|
|
NM_153704.6(TMEM67):c.223+1G>C
|
|
|
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly)
|
rs1815059174
|
|
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln)
|
rs886039810
|
|
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs)
|
rs868404889
|
|
NM_153747.2(PIGC):c.12_13insTTGTGACTAACA (p.Pro5delinsLeuTer)
|
|
|
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp)
|
rs1553259614
|
|
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter)
|
rs1784370895
|
|
NM_153816.6(SNX14):c.1725del (p.Phe575fs)
|
rs1311909367
|
|
NM_153816.6(SNX14):c.2746-2A>G
|
|
|
NM_153816.6(SNX14):c.303T>A (p.Cys101Ter)
|
rs1562374476
|
|
NM_153816.6(SNX14):c.44_45del (p.Arg15fs)
|
|
|
NM_153816.6(SNX14):c.462-589A>G
|
|
|
NM_153816.6(SNX14):c.867+1G>T
|
rs1786449736
|
|
NM_171825.2(CAMK2A):c.65del
|
rs1554123982
|
|
NM_172107.4(KCNQ2):c.1003C>T (p.Pro335Ser)
|
rs1555869700
|
|
NM_172107.4(KCNQ2):c.1016T>A (p.Leu339Gln)
|
rs118192217
|
|
NM_172107.4(KCNQ2):c.1023+2T>C
|
|
|
NM_172107.4(KCNQ2):c.1024-2A>C
|
rs1057516104
|
|
NM_172107.4(KCNQ2):c.1025C>T (p.Ser342Leu)
|
rs2080907267
|
|
NM_172107.4(KCNQ2):c.1027G>C (p.Ala343Pro)
|
|
|
NM_172107.4(KCNQ2):c.1030T>C (p.Trp344Arg)
|
rs1057516105
|
|
NM_172107.4(KCNQ2):c.1045A>C (p.Thr349Pro)
|
rs2145680256
|
|
NM_172107.4(KCNQ2):c.1046C>T (p.Thr349Ile)
|
rs2080906453
|
|
NM_172107.4(KCNQ2):c.1048A>T (p.Asn350Tyr)
|
|
|
NM_172107.4(KCNQ2):c.1050C>A (p.Asn350Lys)
|
rs1371059392
|
|
NM_172107.4(KCNQ2):c.1052T>G (p.Leu351Arg)
|
rs2145680143
|
|
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys)
|
rs118192218
|
|
NM_172107.4(KCNQ2):c.1064A>T (p.Asp355Val)
|
rs2080905274
|
|
NM_172107.4(KCNQ2):c.1065C>A (p.Asp355Glu)
|
rs200395340
|
|
NM_172107.4(KCNQ2):c.1067T>G (p.Leu356Arg)
|
rs1057518772
|
|
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met)
|
rs118192219
|
|
NM_172107.4(KCNQ2):c.1080G>T (p.Trp360Cys)
|
rs1600732174
|
|
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter)
|
rs1185859533
|
|
NM_172107.4(KCNQ2):c.1123C>T (p.Gln375Ter)
|
rs756360226
|
|
NM_172107.4(KCNQ2):c.1148+2T>A
|
|
|
NM_172107.4(KCNQ2):c.1149-1G>T
|
rs1600714727
|
|
NM_172107.4(KCNQ2):c.1154dup (p.Leu388fs)
|
rs2145637592
|
|
NM_172107.4(KCNQ2):c.1168C>T (p.Gln390Ter)
|
rs2145637412
|
|
NM_172107.4(KCNQ2):c.1218-1G>A
|
rs1568899375
|
|
NM_172107.4(KCNQ2):c.1247+1G>A
|
rs1057516115
|
|
NM_172107.4(KCNQ2):c.1301+2T>G
|
|
|
NM_172107.4(KCNQ2):c.1302-162_1511delinsA
|
|
|
NM_172107.4(KCNQ2):c.1302-1G>A
|
|
|
NM_172107.4(KCNQ2):c.1302-1G>T
|
|
|
NM_172107.4(KCNQ2):c.1328_1350del (p.Val443fs)
|
|
|
NM_172107.4(KCNQ2):c.1525G>T (p.Glu509Ter)
|
|
|
NM_172107.4(KCNQ2):c.1618A>G (p.Ile540Val)
|
rs2145547478
|
|
NM_172107.4(KCNQ2):c.1619T>G (p.Ile540Ser)
|
rs2080210194
|
|
NM_172107.4(KCNQ2):c.1622G>C (p.Arg541Thr)
|
rs1555853970
|
|
NM_172107.4(KCNQ2):c.1623_1631+5del
|
rs2145547209
|
|
NM_172107.4(KCNQ2):c.1632-6C>A
|
|
|
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr)
|
rs886041860
|
|
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile)
|
rs2080191127
|
|
NM_172107.4(KCNQ2):c.1639C>G (p.Arg547Gly)
|
rs796052650
|
|
NM_172107.4(KCNQ2):c.1640G>T (p.Arg547Leu)
|
|
|
NM_172107.4(KCNQ2):c.1657C>G (p.Arg553Gly)
|
|
|
NM_172107.4(KCNQ2):c.1658G>C (p.Arg553Pro)
|
rs118192234
|
|
NM_172107.4(KCNQ2):c.1663T>A (p.Phe555Ile)
|
rs2145542277
|
|
NM_172107.4(KCNQ2):c.1663T>C (p.Phe555Leu)
|
|
|
NM_172107.4(KCNQ2):c.1666A>C (p.Lys556Gln)
|
|
|
NM_172107.4(KCNQ2):c.1667A>G (p.Lys556Arg)
|
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.1679G>C (p.Arg560Pro)
|
rs1057517919
|
|
NM_172107.4(KCNQ2):c.1690G>A (p.Val564Met)
|
|
|
NM_172107.4(KCNQ2):c.1720G>A (p.Gly574Ser)
|
rs2080187424
|
|
NM_172107.4(KCNQ2):c.1721G>A (p.Gly574Asp)
|
rs796052654
|
|
NM_172107.4(KCNQ2):c.1732A>C (p.Met578Leu)
|
rs1057516123
|
|
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val)
|
rs1057516123
|
|
NM_172107.4(KCNQ2):c.1735C>G (p.Leu579Val)
|
|
|
NM_172107.4(KCNQ2):c.1749G>C (p.Lys583Asn)
|
rs2145541173
|
|
NM_172107.4(KCNQ2):c.1763+4A>G
|
rs2145541064
|
|
NM_172107.4(KCNQ2):c.1764-1G>A
|
|
|
NM_172107.4(KCNQ2):c.1887+2del
|
|
|
NM_172107.4(KCNQ2):c.2156del (p.Gln719fs)
|
|
|
NM_172107.4(KCNQ2):c.2173_2179dup (p.Gly727fs)
|
rs1060500603
|
|
NM_172107.4(KCNQ2):c.236del (p.Asn79fs)
|
|
|
NM_172107.4(KCNQ2):c.242T>C (p.Leu81Pro)
|
rs2145921196
|
|
NM_172107.4(KCNQ2):c.26G>A (p.Gly9Asp)
|
|
|
NM_172107.4(KCNQ2):c.296+2T>C
|
|
|
NM_172107.4(KCNQ2):c.297-1G>C
|
rs2081442293
|
|
NM_172107.4(KCNQ2):c.300CCT[1] (p.Leu102del)
|
rs1064795435
|
|
NM_172107.4(KCNQ2):c.302T>A (p.Leu101His)
|
rs2081442073
|
|
NM_172107.4(KCNQ2):c.316T>G (p.Cys106Gly)
|
rs2145789722
|
|
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu)
|
rs118192194
|
|
NM_172107.4(KCNQ2):c.367del (p.Glu123fs)
|
rs2145789218
|
|
NM_172107.4(KCNQ2):c.380A>G (p.Tyr127Cys)
|
rs796052617
|
|
NM_172107.4(KCNQ2):c.380A>T (p.Tyr127Phe)
|
rs796052617
|
|
NM_172107.4(KCNQ2):c.385C>G (p.Leu129Val)
|
rs1381622639
|
|
NM_172107.4(KCNQ2):c.387+1G>A
|
|
|
NM_172107.4(KCNQ2):c.387+2T>C
|
rs2145789008
|
|
NM_172107.4(KCNQ2):c.388-1G>A
|
rs6089914
|
|
NM_172107.4(KCNQ2):c.388-2A>G
|
rs2145779858
|
|
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met)
|
rs1600789325
|
|
NM_172107.4(KCNQ2):c.401T>A (p.Ile134Asn)
|
rs2145779680
|
|
NM_172107.4(KCNQ2):c.419A>C (p.Glu140Ala)
|
rs2145779552
|
|
NM_172107.4(KCNQ2):c.430C>G (p.Arg144Gly)
|
rs1555873985
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln)
|
rs796052618
|
|
NM_172107.4(KCNQ2):c.461A>G (p.Tyr154Cys)
|
|
|
NM_172107.4(KCNQ2):c.476G>T (p.Gly159Val)
|
rs1057516081
|
|
NM_172107.4(KCNQ2):c.49G>T (p.Glu17Ter)
|
rs2145922320
|
|
NM_172107.4(KCNQ2):c.514+1G>A
|
rs2145778708
|
|
NM_172107.4(KCNQ2):c.514+2T>C
|
|
|
NM_172107.4(KCNQ2):c.514G>A (p.Asp172Asn)
|
|
|
NM_172107.4(KCNQ2):c.515A>G (p.Asp172Gly)
|
rs1555873823
|
|
NM_172107.4(KCNQ2):c.516CAT[1] (p.Ile173del)
|
|
|
NM_172107.4(KCNQ2):c.533C>T (p.Ala178Val)
|
rs2145776110
|
|
NM_172107.4(KCNQ2):c.543G>A (p.Ala181=)
|
rs1447421194
|
|
NM_172107.4(KCNQ2):c.544G>A (p.Val182Met)
|
rs1085307920
|
|
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr)
|
rs1600786349
|
|
NM_172107.4(KCNQ2):c.562C>A (p.Gln188Lys)
|
rs2081363302
|
|
NM_172107.4(KCNQ2):c.563A>G (p.Gln188Arg)
|
|
|
NM_172107.4(KCNQ2):c.566G>A (p.Gly189Asp)
|
|
|
NM_172107.4(KCNQ2):c.578C>T (p.Ala193Val)
|
rs796052619
|
|
NM_172107.4(KCNQ2):c.581C>T (p.Thr194Ile)
|
rs2081362775
|
|
NM_172107.4(KCNQ2):c.584C>G (p.Ser195Cys)
|
rs1568940442
|
|
NM_172107.4(KCNQ2):c.584C>T (p.Ser195Phe)
|
rs1568940442
|
|
NM_172107.4(KCNQ2):c.592C>T (p.Arg198Trp)
|
rs2145775614
|
|
NM_172107.4(KCNQ2):c.593G>C (p.Arg198Pro)
|
rs796052621
|
|
NM_172107.4(KCNQ2):c.617T>C (p.Leu206Pro)
|
rs1339542565
|
|
NM_172107.4(KCNQ2):c.617T>G (p.Leu206Arg)
|
rs1339542565
|
|
NM_172107.4(KCNQ2):c.628C>T (p.Arg210Cys)
|
rs796052626
|
|
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro)
|
rs886041262
|
|
NM_172107.4(KCNQ2):c.631A>G (p.Met211Val)
|
rs1057524599
|
|
NM_172107.4(KCNQ2):c.634G>A (p.Asp212Asn)
|
|
|
NM_172107.4(KCNQ2):c.634dup (p.Asp212fs)
|
|
|
NM_172107.4(KCNQ2):c.638G>A (p.Arg213Gln)
|
|
|
NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu)
|
rs397514581
|
|
NM_172107.4(KCNQ2):c.649A>C (p.Thr217Pro)
|
rs1057516089
|
|
NM_172107.4(KCNQ2):c.650C>T (p.Thr217Ile)
|
|
|
NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe)
|
rs2145774638
|
|
NM_172107.4(KCNQ2):c.670G>C (p.Val224Leu)
|
rs2145774625
|
|
NM_172107.4(KCNQ2):c.680C>T (p.Ala227Val)
|
rs2145774563
|
|
NM_172107.4(KCNQ2):c.682C>G (p.His228Asp)
|
|
|
NM_172107.4(KCNQ2):c.685A>G (p.Ser229Gly)
|
|
|
NM_172107.4(KCNQ2):c.689A>T (p.Lys230Met)
|
rs2081358317
|
|
NM_172107.4(KCNQ2):c.690+1G>A
|
rs2145774426
|
|
NM_172107.4(KCNQ2):c.690+2_690+19del
|
|
|
NM_172107.4(KCNQ2):c.691-1G>A
|
rs2145736858
|
|
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp)
|
rs797044938
|
|
NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup)
|
rs1600767259
|
|
NM_172107.4(KCNQ2):c.703G>A (p.Ala235Thr)
|
rs2081192615
|
|
NM_172107.4(KCNQ2):c.704C>G (p.Ala235Gly)
|
|
|
NM_172107.4(KCNQ2):c.704C>T (p.Ala235Val)
|
rs797045638
|
|
NM_172107.4(KCNQ2):c.706T>C (p.Trp236Arg)
|
rs942541730
|
|
NM_172107.4(KCNQ2):c.715G>A (p.Gly239Ser)
|
|
|
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val)
|
rs796052630
|
|
NM_172107.4(KCNQ2):c.725G>A (p.Cys242Tyr)
|
rs2081191454
|
|
NM_172107.4(KCNQ2):c.727C>G (p.Leu243Val)
|
rs118192205
|
|
NM_172107.4(KCNQ2):c.733C>G (p.Leu245Val)
|
|
|
NM_172107.4(KCNQ2):c.739T>C (p.Ser247Pro)
|
|
|
NM_172107.4(KCNQ2):c.746T>C (p.Leu249Pro)
|
rs2081190512
|
|
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly)
|
rs118192206
|
|
NM_172107.4(KCNQ2):c.757G>A (p.Ala253Thr)
|
rs1057516093
|
|
NM_172107.4(KCNQ2):c.762G>C (p.Glu254Asp)
|
rs2081189736
|
|
NM_172107.4(KCNQ2):c.766G>A (p.Gly256Arg)
|
rs1057518500
|
|
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn)
|
rs777257591
|
|
NM_172107.4(KCNQ2):c.778C>T (p.His260Tyr)
|
rs1555871832
|
|
NM_172107.4(KCNQ2):c.782T>C (p.Phe261Ser)
|
rs796052631
|
|
NM_172107.4(KCNQ2):c.782T>G (p.Phe261Cys)
|
rs796052631
|
|
NM_172107.4(KCNQ2):c.787A>G (p.Thr263Ala)
|
rs2081188385
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_172107.4(KCNQ2):c.796G>A (p.Asp266Asn)
|
|
|
NM_172107.4(KCNQ2):c.797A>T (p.Asp266Val)
|
|
|
NM_172107.4(KCNQ2):c.799G>A (p.Ala267Thr)
|
rs2145735332
|
|
NM_172107.4(KCNQ2):c.806G>C (p.Trp269Ser)
|
rs796052633
|
|
NM_172107.4(KCNQ2):c.810G>T (p.Trp270Cys)
|
rs2081187047
|
|
NM_172107.4(KCNQ2):c.811G>A (p.Gly271Ser)
|
rs1064797284
|
|
NM_172107.4(KCNQ2):c.811G>C (p.Gly271Arg)
|
rs1064797284
|
|
NM_172107.4(KCNQ2):c.812G>A (p.Gly271Asp)
|
rs118192209
|
|
NM_172107.4(KCNQ2):c.816+2T>A
|
rs2081186625
|
|
NM_172107.4(KCNQ2):c.816+2T>G
|
|
|
NM_172107.4(KCNQ2):c.817-1G>A
|
rs2145719805
|
|
NM_172107.4(KCNQ2):c.817-2A>G
|
|
|
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)
|
rs727503974
|
|
NM_172107.4(KCNQ2):c.826A>C (p.Thr276Pro)
|
|
|
NM_172107.4(KCNQ2):c.829A>T (p.Thr277Ser)
|
rs1555870554
|
|
NM_172107.4(KCNQ2):c.830C>A (p.Thr277Asn)
|
rs1600755607
|
|
NM_172107.4(KCNQ2):c.832A>T (p.Ile278Phe)
|
rs780872303
|
|
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr)
|
rs1057523728
|
|
NM_172107.4(KCNQ2):c.834T>G (p.Ile278Met)
|
rs1272165811
|
|
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp)
|
rs2145719551
|
|
NM_172107.4(KCNQ2):c.836G>T (p.Gly279Val)
|
|
|
NM_172107.4(KCNQ2):c.841G>C (p.Gly281Arg)
|
rs794727813
|
|
NM_172107.4(KCNQ2):c.844G>A (p.Asp282Asn)
|
rs796052636
|
|
NM_172107.4(KCNQ2):c.844G>C (p.Asp282His)
|
rs796052636
|
|
NM_172107.4(KCNQ2):c.847A>G (p.Lys283Glu)
|
rs1600755429
|
|
NM_172107.4(KCNQ2):c.853C>T (p.Pro285Ser)
|
rs2081101244
|
|
NM_172107.4(KCNQ2):c.868G>T (p.Gly290Cys)
|
|
|
NM_172107.4(KCNQ2):c.873G>C (p.Arg291Ser)
|
rs1057519535
|
|
NM_172107.4(KCNQ2):c.874C>T (p.Leu292Phe)
|
|
|
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro)
|
rs1060500602
|
|
NM_172107.4(KCNQ2):c.880G>T (p.Ala294Ser)
|
rs2081099858
|
|
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp)
|
rs1131691936
|
|
NM_172107.4(KCNQ2):c.902G>T (p.Gly301Val)
|
rs1131691936
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
NM_172107.4(KCNQ2):c.911T>C (p.Phe304Ser)
|
rs1057516100
|
|
NM_172107.4(KCNQ2):c.911T>G (p.Phe304Cys)
|
rs1057516100
|
|
NM_172107.4(KCNQ2):c.914T>C (p.Phe305Ser)
|
|
|
NM_172107.4(KCNQ2):c.915C>A (p.Phe305Leu)
|
rs775918190
|
|
NM_172107.4(KCNQ2):c.917C>A (p.Ala306Glu)
|
rs864321707
|
|
NM_172107.4(KCNQ2):c.922C>T (p.Pro308Ser)
|
|
|
NM_172107.4(KCNQ2):c.923C>T (p.Pro308Leu)
|
|
|
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser)
|
rs1568925719
|
|
NM_172107.4(KCNQ2):c.936G>T (p.Leu312Phe)
|
rs2145712758
|
|
NM_172107.4(KCNQ2):c.937G>T (p.Gly313Trp)
|
rs796052639
|
|
NM_172107.4(KCNQ2):c.949G>A (p.Ala317Thr)
|
rs1600751236
|
|
NM_172107.4(KCNQ2):c.955A>G (p.Lys319Glu)
|
rs2145712576
|
|
NM_172107.4(KCNQ2):c.958G>A (p.Val320Ile)
|
rs2145712541
|
|
NM_172107.4(KCNQ2):c.970C>T (p.His324Tyr)
|
rs2145712459
|
|
NM_172107.4(KCNQ2):c.994A>G (p.Arg332Gly)
|
rs1555869758
|
|
NM_172107.4(KCNQ2):c.998G>T (p.Arg333Leu)
|
|
|
NM_173354.5(SIK1):c.1153C>T (p.Arg385Ter)
|
rs1256783641
|
|
NM_173354.5(SIK1):c.1839C>A (p.Cys613Ter)
|
|
|
NM_173495.3(PTCHD1):c.1985_1986del (p.Leu661_Tyr662insTer)
|
rs1922892999
|
|
NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys)
|
|
|
NM_173495.3(PTCHD1):c.898G>C (p.Gly300Arg)
|
rs1922524280
|
|
NM_173495.3(PTCHD1):c.95C>G (p.Pro32Arg)
|
rs1569130365
|
|
NM_173500.4(TTBK2):c.1675del (p.Gln559fs)
|
rs2140757755
|
|
NM_173500.4(TTBK2):c.239T>A (p.Phe80Tyr)
|
rs778218227
|
|
NM_173500.4(TTBK2):c.322C>T (p.Gln108Ter)
|
rs2140986045
|
|
NM_173500.4(TTBK2):c.3466C>T (p.Arg1156Ter)
|
rs770444240
|
|
NM_173569.4(UBN2):c.2024+1G>A
|
rs1585016242
|
|
NM_173607.5(FAM177A1):c.366dup (p.Trp123fs)
|
rs730882244
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
NM_173728.4(ARHGEF15):c.709_723del (p.Val237_Ala241del)
|
rs1555546796
|
|
NM_177433.3(MAGED2):c.1003del (p.Gln335fs)
|
rs1114167295
|
|
NM_177438.3(DICER1):c.5425G>A (p.Gly1809Arg)
|
rs1595314951
|
|
NM_177550.5(SLC13A5):c.103-1G>A
|
rs1597677742
|
|
NM_177550.5(SLC13A5):c.1156+1G>A
|
rs1555541483
|
|
NM_177550.5(SLC13A5):c.1156+1_1156+5del
|
|
|
NM_177550.5(SLC13A5):c.1276-1G>A
|
rs1597657030
|
|
NM_177550.5(SLC13A5):c.1379C>A (p.Thr460Asn)
|
rs2150964787
|
|
NM_177550.5(SLC13A5):c.1438-2A>G
|
|
|
NM_177550.5(SLC13A5):c.1463T>C (p.Leu488Pro)
|
rs587777578
|
|
NM_177550.5(SLC13A5):c.1475T>C (p.Leu492Pro)
|
rs1057519449
|
|
NM_177550.5(SLC13A5):c.1511del (p.Leu504fs)
|
rs1211773372
|
|
NM_177550.5(SLC13A5):c.232-2A>G
|
rs1973878360
|
|
NM_177550.5(SLC13A5):c.369-2A>G
|
rs1973796030
|
|
NM_177550.5(SLC13A5):c.425del (p.Thr142fs)
|
rs2151495220
|
|
NM_177550.5(SLC13A5):c.548-1G>A
|
|
|
NM_177550.5(SLC13A5):c.785T>C (p.Leu262Pro)
|
rs1973699059
|
|
NM_177550.5(SLC13A5):c.839+1G>A
|
rs1973697345
|
|
NM_177550.5(SLC13A5):c.840-2A>G
|
|
|
NM_177559.3(CSNK2A1):c.583C>T (p.Arg195Ter)
|
rs1034583315
|
|
NM_178012.5(TUBB2B):c.1070C>T (p.Pro357Leu)
|
rs1581525728
|
|
NM_178012.5(TUBB2B):c.1139G>A (p.Arg380His)
|
|
|
NM_178012.5(TUBB2B):c.1139G>T (p.Arg380Leu)
|
rs587784498
|
|
NM_178012.5(TUBB2B):c.1162A>C (p.Met388Leu)
|
rs2113818913
|
|
NM_178012.5(TUBB2B):c.292G>A (p.Gly98Arg)
|
rs797046075
|
|
NM_178012.5(TUBB2B):c.33G>C (p.Gln11His)
|
rs1135401758
|
|
NM_178012.5(TUBB2B):c.515C>T (p.Ser172Leu)
|
rs1554126925
|
|
NM_178012.5(TUBB2B):c.518C>G (p.Pro173Arg)
|
rs2113819240
|
|
NM_178012.5(TUBB2B):c.602G>T (p.Cys201Phe)
|
rs201922441
|
|
NM_178012.5(TUBB2B):c.611A>T (p.Asn204Ile)
|
rs1757276859
|
|
NM_178012.5(TUBB2B):c.632G>A (p.Cys211Tyr)
|
|
|
NM_178012.5(TUBB2B):c.871C>A (p.Gln291Lys)
|
rs1554126886
|
|
NM_178012.5(TUBB2B):c.908G>A (p.Cys303Tyr)
|
rs2113819019
|
|
NM_178012.5(TUBB2B):c.965C>T (p.Ser322Phe)
|
rs587784502
|
|
NM_178014.4(TUBB):c.139A>G (p.Ile47Val)
|
rs1776361528
|
|
NM_178014.4(TUBB):c.155A>G (p.Asn52Ser)
|
|
|
NM_178014.4(TUBB):c.260C>T (p.Pro87Leu)
|
|
|
NM_178014.4(TUBB):c.316T>G (p.Tyr106Asp)
|
rs2127749078
|
|
NM_178014.4(TUBB):c.331G>A (p.Glu111Lys)
|
|
|
NM_178014.4(TUBB):c.448C>T (p.Leu150Phe)
|
rs1581668624
|
|
NM_178014.4(TUBB):c.670G>T (p.Asp224Tyr)
|
|
|
NM_178138.6(LHX3):c.280C>T (p.Gln94Ter)
|
rs2131034777
|
|
NM_178138.6(LHX3):c.581C>G (p.Thr194Arg)
|
rs2131032901
|
|
NM_178138.6(LHX3):c.607-3_630del
|
rs969810391
|
|
NM_178860.5(SEZ6):c.678_686del (p.Thr227_Thr229del)
|
rs863223347
|
|
NM_181303.2(NLGN3):c.1849C>T (p.Arg617Trp)
|
rs878853147
|
|
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg)
|
rs773327091
|
|
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)
|
rs1695336858
|
|
NM_181503.3(EXOSC8):c.734dup (p.Ala246fs)
|
rs773616244
|
|
NM_181503.3(EXOSC8):c.89_91del (p.Gly30del)
|
rs764339075
|
|
NM_181523.3(PIK3R1):c.1126G>C (p.Gly376Arg)
|
rs1057519757
|
|
NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp)
|
rs1057519841
|
|
NM_181672.3(OGT):c.1529G>A (p.Ser510Asn)
|
|
|
NM_181672.3(OGT):c.2795C>T (p.Thr932Ile)
|
rs1602155923
|
|
NM_181672.3(OGT):c.307G>A (p.Gly103Arg)
|
rs1556046834
|
|
NM_181672.3(OGT):c.3139T>C (p.Ter1047Gln)
|
|
|
NM_182641.4(BPTF):c.5587C>T (p.Arg1863Ter)
|
rs2063551300
|
|
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs)
|
rs1562927768
|
|
NM_182931.3(KMT2E):c.2051_2052dup (p.Glu685Ter)
|
rs1562928193
|
|
NM_182961.4(SYNE1):c.10145+1G>A
|
rs1563391747
|
|
NM_182961.4(SYNE1):c.10608+1G>C
|
rs1590998146
|
|
NM_182961.4(SYNE1):c.10862T>C (p.Val3621Ala)
|
|
|
NM_182961.4(SYNE1):c.11894_11895del (p.His3965fs)
|
|
|
NM_182961.4(SYNE1):c.12009dup (p.Gln4004fs)
|
rs2096651533
|
|
NM_182961.4(SYNE1):c.12079-2A>T
|
rs2154019221
|
|
NM_182961.4(SYNE1):c.12351+2T>C
|
rs2154000325
|
|
NM_182961.4(SYNE1):c.12605del (p.Lys4202fs)
|
rs2096322248
|
|
NM_182961.4(SYNE1):c.13325dup (p.Gln4443fs)
|
rs1064794555
|
|
NM_182961.4(SYNE1):c.15837_15917+69del
|
rs2153937126
|
|
NM_182961.4(SYNE1):c.16237-2A>G
|
rs2153903647
|
|
NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
|
|
NM_182961.4(SYNE1):c.16849C>T (p.Arg5617Ter)
|
rs758379604
|
|
NM_182961.4(SYNE1):c.16896+1G>T
|
|
|
NM_182961.4(SYNE1):c.18157C>T (p.Arg6053Ter)
|
|
|
NM_182961.4(SYNE1):c.18208-1G>A
|
rs2153725036
|
|
NM_182961.4(SYNE1):c.18866C>A (p.Ser6289Ter)
|
|
|
NM_182961.4(SYNE1):c.19260+1G>C
|
|
|
NM_182961.4(SYNE1):c.19260+1G>T
|
|
|
NM_182961.4(SYNE1):c.19260+2T>C
|
rs1588855714
|
|
NM_182961.4(SYNE1):c.1933-2A>G
|
rs1554753528
|
|
NM_182961.4(SYNE1):c.19450C>T (p.Gln6484Ter)
|
rs2090447154
|
|
NM_182961.4(SYNE1):c.19839del (p.Ile6615fs)
|
|
|
NM_182961.4(SYNE1):c.20527del (p.Leu6843fs)
|
rs2083582255
|
|
NM_182961.4(SYNE1):c.22590-1G>A
|
rs2153409815
|
|
NM_182961.4(SYNE1):c.22824+2T>A
|
|
|
NM_182961.4(SYNE1):c.23790+1G>A
|
rs2153025020
|
|
NM_182961.4(SYNE1):c.2394+1G>A
|
|
|
NM_182961.4(SYNE1):c.2568+1G>A
|
rs2154261629
|
|
NM_182961.4(SYNE1):c.3396-10_3396delinsC
|
rs863224929
|
|
NM_182961.4(SYNE1):c.3595G>T (p.Glu1199Ter)
|
rs2098603169
|
|
NM_182961.4(SYNE1):c.3930_3931insGG (p.His1311fs)
|
rs797045109
|
|
NM_182961.4(SYNE1):c.4310+1G>A
|
|
|
NM_182961.4(SYNE1):c.434T>A (p.Leu145His)
|
rs755531859
|
|
NM_182961.4(SYNE1):c.5267G>A (p.Arg1756Lys)
|
|
|
NM_182961.4(SYNE1):c.67+2T>A
|
rs762743107
|
|
NM_182961.4(SYNE1):c.888+2T>A
|
rs754518742
|
|
NM_182961.4(SYNE1):c.888+2T>C
|
|
|
NM_183381.3(RNF13):c.881_882del (p.Asp293_Ser294insTer)
|
rs2108622234
|
|
NM_183381.3(RNF13):c.919G>T (p.Glu307Ter)
|
|
|
NM_194279.4(ISCA2):c.229G>A (p.Gly77Ser)
|
rs730882246
|
|
NM_198428.3(BBS9):c.2153del (p.Gly718fs)
|
rs1369313123
|
|
NM_198503.5(KCNT2):c.1096A>G (p.Lys366Glu)
|
rs2148529666
|
|
NM_198503.5(KCNT2):c.1667C>T (p.Thr556Ile)
|
|
|
NM_198503.5(KCNT2):c.1731_1738del (p.Phe578fs)
|
rs2148151806
|
|
NM_198503.5(KCNT2):c.2501_2507del (p.Ser834fs)
|
rs2147978696
|
|
NM_198503.5(KCNT2):c.3055C>T (p.Arg1019Ter)
|
|
|
NM_198503.5(KCNT2):c.433del (p.Ile145fs)
|
|
|
NM_198503.5(KCNT2):c.914G>C (p.Cys305Ser)
|
rs2148537524
|
|
NM_198578.4(LRRK2):c.4321C>A (p.Arg1441Ser)
|
rs33939927
|
|
NM_198586.3(NHLRC1):c.1163_1164del (p.Lys388fs)
|
rs1783731105
|
|
NM_198586.3(NHLRC1):c.137G>A (p.Cys46Tyr)
|
|
|
NM_198586.3(NHLRC1):c.377T>C (p.Leu126Pro)
|
|
|
NM_198586.3(NHLRC1):c.391G>A (p.Gly131Arg)
|
rs967125703
|
|
NM_198586.3(NHLRC1):c.438C>A (p.Asp146Glu)
|
rs200559475
|
|
NM_198586.3(NHLRC1):c.528C>G (p.Tyr176Ter)
|
rs1403101337
|
|
NM_198586.3(NHLRC1):c.575A>T (p.Asp192Val)
|
rs1194084403
|
|
NM_198880.3(QRICH1):c.1180C>G (p.His394Asp)
|
rs2106903855
|
|
NM_198880.3(QRICH1):c.1234del (p.Thr412fs)
|
|
|
NM_198880.3(QRICH1):c.1579G>A (p.Gly527Arg)
|
rs2106863254
|
|
NM_198880.3(QRICH1):c.1649A>G (p.Tyr550Cys)
|
rs2106862882
|
|
NM_198880.3(QRICH1):c.1655del (p.Phe552fs)
|
rs2106862871
|
|
NM_198880.3(QRICH1):c.1720T>G (p.Tyr574Asp)
|
rs2106855069
|
|
NM_198880.3(QRICH1):c.1786+1G>A
|
rs2106854800
|
|
NM_198880.3(QRICH1):c.1807G>T (p.Val603Leu)
|
rs2093252866
|
|
NM_198880.3(QRICH1):c.1884C>G (p.Phe628Leu)
|
rs2106813640
|
|
NM_198880.3(QRICH1):c.2159G>A (p.Arg720Gln)
|
|
|
NM_198880.3(QRICH1):c.2207G>A (p.Ser736Asn)
|
rs2093229974
|
|
NM_198880.3(QRICH1):c.2280_2281del (p.Ile760fs)
|
|
|
NM_198880.3(QRICH1):c.292C>T (p.Gln98Ter)
|
|
|
NM_198880.3(QRICH1):c.68C>T (p.Pro23Leu)
|
rs2106983539
|
|
NM_198880.3(QRICH1):c.756G>T (p.Met252Ile)
|
rs2106905658
|
|
NM_198880.3(QRICH1):c.851C>T (p.Pro284Leu)
|
rs2093408453
|
|
NM_198880.3(QRICH1):c.914dup (p.Gly306fs)
|
rs2106905056
|
|
NM_198880.3(QRICH1):c.961del (p.Asp321fs)
|
rs2106904870
|
|
NM_198903.2:c.-61_889+60del
|
|
|
NM_198904.4(GABRG2):c.1061G>T (p.Gly354Val)
|
rs1060501888
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NM_198904.4(GABRG2):c.107+1G>A
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rs1758364128
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NM_198904.4(GABRG2):c.245G>T (p.Arg82Leu)
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NM_198904.4(GABRG2):c.247C>A (p.Pro83Thr)
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NM_198904.4(GABRG2):c.248C>T (p.Pro83Leu)
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rs1760808499
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NM_198904.4(GABRG2):c.259+1G>C
|
rs2113298764
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NM_198904.4(GABRG2):c.259+2T>A
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rs2113298770
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NM_198904.4(GABRG2):c.259+2T>C
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rs2113298770
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NM_198904.4(GABRG2):c.259+5G>T
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rs2113298784
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NM_198904.4(GABRG2):c.260-1G>A
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rs2113309064
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NM_198904.4(GABRG2):c.269C>T (p.Thr90Met)
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rs1057520498
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NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)
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rs796052505
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NM_198904.4(GABRG2):c.328-1G>A
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NM_198904.4(GABRG2):c.373C>T (p.Arg125Cys)
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rs2113325423
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NM_198904.4(GABRG2):c.496_498dup (p.Pro166dup)
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rs2113326854
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NM_198904.4(GABRG2):c.501C>A (p.Asn167Lys)
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rs1581351046
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NM_198904.4(GABRG2):c.542C>G (p.Thr181Ser)
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NM_198904.4(GABRG2):c.549-1G>T
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NM_198904.4(GABRG2):c.631+1G>T
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NM_198904.4(GABRG2):c.631+2T>C
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NM_198904.4(GABRG2):c.631+4A>G
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NM_198904.4(GABRG2):c.632-2A>T
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rs2113370272
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NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter)
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rs1045493304
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NM_198904.4(GABRG2):c.704G>A (p.Trp235Ter)
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rs1554098226
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NM_198904.4(GABRG2):c.737_740del (p.Arg246fs)
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NM_198904.4(GABRG2):c.769+1G>A
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rs2113371247
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NM_198904.4(GABRG2):c.853C>G (p.Leu285Val)
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rs1554100507
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NM_198904.4(GABRG2):c.859G>A (p.Val287Ile)
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rs1764624249
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NM_198904.4(GABRG2):c.875T>C (p.Val292Ala)
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NM_198904.4(GABRG2):c.899C>A (p.Ala300Asp)
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rs543339576
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NM_198904.4(GABRG2):c.916_922+8del
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rs2113599162
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NM_198904.4(GABRG2):c.941C>A (p.Thr314Lys)
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NM_198904.4(GABRG2):c.950C>A (p.Thr317Asn)
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rs1765173859
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NM_198904.4(GABRG2):c.962T>C (p.Ile321Thr)
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rs1765175867
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NM_198904.4(GABRG2):c.967C>G (p.Arg323Gly)
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rs796052510
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NM_198904.4(GABRG2):c.967C>T (p.Arg323Trp)
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rs796052510
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NM_198993.5(STAC2):c.257G>A (p.Arg86Lys)
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rs863223351
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NM_198994.2(TGM6):c.425_435del11
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rs1222726216
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NM_201599.3(ZMYM3):c.3880C>T (p.Arg1294Cys)
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rs879255361
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NM_203446.3(SYNJ1):c.1600C>T (p.Arg534Ter)
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rs1569075471
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NM_203446.3(SYNJ1):c.2242C>T (p.Gln748Ter)
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NM_203446.3(SYNJ1):c.2254del (p.Asp752fs)
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rs2040866242
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NM_203446.3(SYNJ1):c.2398C>T (p.Arg800Cys)
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NM_203446.3(SYNJ1):c.2461+2T>C
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NM_203446.3(SYNJ1):c.3247+2T>G
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NM_203446.3(SYNJ1):c.3430+1G>A
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rs2145769010
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NM_203446.3(SYNJ1):c.3478+1G>A
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rs1085307987
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NM_203446.3(SYNJ1):c.3589-1G>A
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NM_203446.3(SYNJ1):c.789+1G>A
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rs2042124608
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NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys)
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rs2061711638
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NM_203475.3(PORCN):c.1077_1078insAAC (p.Tyr359_Val360insAsn)
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NM_203475.3(PORCN):c.1186C>T (p.Arg396Ter)
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rs2147139830
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NM_203475.3(PORCN):c.1284+1G>A
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NM_203475.3(PORCN):c.1356del (p.Cys453fs)
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rs1602085557
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NM_203475.3(PORCN):c.329+1G>A
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rs1602070594
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NM_203475.3(PORCN):c.341T>G (p.Met114Arg)
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NM_203475.3(PORCN):c.565T>C (p.Trp189Arg)
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rs1057519006
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NM_203475.3(PORCN):c.782T>C (p.Leu261Pro)
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rs2147130188
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NM_203475.3(PORCN):c.884C>T (p.Pro295Leu)
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rs2061701575
|
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NM_205768.3(ZBTB18):c.1147del (p.Leu383fs)
|
rs1698428309
|
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NM_205768.3(ZBTB18):c.1207del (p.Arg403fs)
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rs2148557361
|
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NM_205768.3(ZBTB18):c.1210G>A (p.Glu404Lys)
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rs2148557375
|
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NM_205768.3(ZBTB18):c.1283T>G (p.Phe428Cys)
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rs1572531730
|
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NM_205768.3(ZBTB18):c.1301T>C (p.Leu434Pro)
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rs1553270599
|
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NM_205768.3(ZBTB18):c.1306C>T (p.Arg436Cys)
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rs1698434969
|
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NM_205768.3(ZBTB18):c.1307G>A (p.Arg436His)
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rs1572531765
|
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NM_205768.3(ZBTB18):c.1309C>T (p.His437Tyr)
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|
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NM_205768.3(ZBTB18):c.1355G>A (p.Cys452Tyr)
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rs1572531830
|
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NM_205768.3(ZBTB18):c.1378C>T (p.His460Tyr)
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rs1698437148
|
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NM_205768.3(ZBTB18):c.1391G>C (p.Arg464Pro)
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rs1558149913
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NM_205768.3(ZBTB18):c.1391G>T (p.Arg464Leu)
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rs1558149913
|
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NM_205768.3(ZBTB18):c.1403T>C (p.Val468Ala)
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rs2148557671
|
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NM_205768.3(ZBTB18):c.1411C>T (p.Arg471Cys)
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|
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NM_205768.3(ZBTB18):c.1423C>G (p.His475Asp)
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|
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NM_205768.3(ZBTB18):c.142C>G (p.Arg48Gly)
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rs1135401770
|
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NM_205768.3(ZBTB18):c.1465G>T (p.Asp489Tyr)
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rs1572532005
|
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NM_205768.3(ZBTB18):c.1473C>G (p.Tyr491Ter)
|
rs376898131
|
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NM_205768.3(ZBTB18):c.1478A>G (p.His493Arg)
|
|
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NM_205768.3(ZBTB18):c.1493A>C (p.His498Pro)
|
rs1553270640
|
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NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg)
|
rs869312689
|
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NM_205768.3(ZBTB18):c.204_205del (p.Asp70fs)
|
|
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NM_205768.3(ZBTB18):c.244_246dup (p.Pro82_Ala83insPro)
|
|
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NM_205768.3(ZBTB18):c.306del (p.Ile103fs)
|
|
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NM_205768.3(ZBTB18):c.686_687del (p.Glu229fs)
|
|
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NM_205768.3(ZBTB18):c.764_765dup (p.Ser256fs)
|
|
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NM_205768.3(ZBTB18):c.922G>T (p.Glu308Ter)
|
rs763141634
|
|
NM_207361.6(FREM2):c.8351G>A (p.Arg2784Lys)
|
rs863223346
|
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NM_207370.4(GPR153):c.217C>T (p.Arg73Cys)
|
rs776061422
|
|
Single allele
|
|
|
inv(X)(p22.2q28)
|
|
|
m.3697G>A
|
rs199476122
|
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m.8344A>G
|
rs118192098
|
|
t(X;7)(p10;q21.11)
|
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