|
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)
|
rs2229968
|
0.00898
|
|
NM_001271938.2(MEGF8):c.7673C>T (p.Pro2558Leu)
|
rs147216997
|
0.00639
|
|
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)
|
rs114832250
|
0.00587
|
|
NM_173660.5(DOK7):c.54+19C>T
|
rs757053604
|
0.00400
|
|
NM_017617.5(NOTCH1):c.5018+20C>T
|
rs139772121
|
0.00320
|
|
NM_001346754.2(PIGW):c.1132G>C (p.Val378Leu)
|
rs79448900
|
0.00309
|
|
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
|
NM_001271938.2(MEGF8):c.7421G>A (p.Arg2474His)
|
rs45623135
|
0.00308
|
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
|
NM_001278689.2(EOGT):c.122G>T (p.Arg41Leu)
|
rs116007086
|
0.00262
|
|
NM_016277.5(RAB23):c.481+5A>G
|
rs150762175
|
0.00259
|
|
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala)
|
rs41279055
|
0.00255
|
|
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)
|
rs4986933
|
0.00253
|
|
NM_001271938.2(MEGF8):c.7705G>A (p.Val2569Ile)
|
rs147133204
|
0.00251
|
|
NM_002334.4(LRP4):c.5357T>A (p.Met1786Lys)
|
rs61748876
|
0.00246
|
|
NM_153717.3(EVC):c.532G>A (p.Val178Ile)
|
rs144897690
|
0.00243
|
|
NM_173660.5(DOK7):c.332-69_332-18del
|
rs1560212382
|
0.00242
|
|
NM_173660.5(DOK7):c.178G>A (p.Glu60Lys)
|
rs199980106
|
0.00227
|
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
|
NM_002334.4(LRP4):c.1048+7G>T
|
rs148557097
|
0.00220
|
|
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala)
|
rs151105762
|
0.00218
|
|
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro)
|
rs143388379
|
0.00212
|
|
NM_002334.4(LRP4):c.1787A>G (p.His596Arg)
|
rs138878258
|
0.00211
|
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
|
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)
|
rs73505420
|
0.00210
|
|
NM_153717.3(EVC):c.1636A>G (p.Met546Val)
|
rs112608085
|
0.00209
|
|
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)
|
rs145277501
|
0.00203
|
|
NM_173660.5(DOK7):c.812G>C (p.Ser271Thr)
|
rs144592743
|
0.00202
|
|
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)
|
rs146601373
|
0.00201
|
|
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln)
|
rs41269557
|
0.00201
|
|
NM_153717.3(EVC):c.8G>C (p.Arg3Pro)
|
rs756852655
|
0.00195
|
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
|
NM_153717.3(EVC):c.93C>G (p.Ala31=)
|
rs866226288
|
0.00194
|
|
NM_001271938.2(MEGF8):c.8176C>T (p.Arg2726Cys)
|
rs141224456
|
0.00186
|
|
NM_013352.4(DSE):c.2651G>A (p.Arg884Gln)
|
rs35363262
|
0.00180
|
|
NM_001018115.3(FANCD2):c.4281+115C>A
|
rs78896323
|
0.00179
|
|
NM_153717.3(EVC):c.1963G>A (p.Ala655Thr)
|
rs149344570
|
0.00177
|
|
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)
|
rs74977201
|
0.00176
|
|
NM_001374353.1(GLI2):c.2865T>A (p.Pro955=)
|
rs747247646
|
0.00176
|
|
NM_020937.4(FANCM):c.491A>C (p.His164Pro)
|
rs144278051
|
0.00176
|
|
NM_002334.4(LRP4):c.1915+6C>T
|
rs184555624
|
0.00175
|
|
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)
|
rs183156491
|
0.00171
|
|
NM_153717.3(EVC):c.1500G>A (p.Met500Ile)
|
rs149898884
|
0.00163
|
|
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe)
|
rs142007602
|
0.00161
|
|
NM_000135.4(FANCA):c.754G>A (p.Asp252Asn)
|
rs111944585
|
0.00158
|
|
NM_013352.4(DSE):c.2120C>G (p.Ser707Cys)
|
rs140975523
|
0.00153
|
|
NM_153717.3(EVC):c.2869G>A (p.Gly957Arg)
|
rs35926225
|
0.00150
|
|
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val)
|
rs144215747
|
0.00147
|
|
NM_005055.5(RAPSN):c.821G>A (p.Ser274Asn)
|
rs140996453
|
0.00138
|
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
|
NM_173660.5(DOK7):c.1480G>A (p.Val494Ile)
|
rs202073484
|
0.00135
|
|
NM_032444.4(SLX4):c.422G>T (p.Gly141Val)
|
rs77306735
|
0.00131
|
|
NM_173660.5(DOK7):c.1008G>A (p.Ser336=)
|
rs185050737
|
0.00131
|
|
NM_020937.4(FANCM):c.2268C>A (p.Arg756=)
|
rs146061601
|
0.00128
|
|
NM_153717.3(EVC):c.1040C>T (p.Thr347Met)
|
rs34947207
|
0.00127
|
|
NM_001113378.2(FANCI):c.753C>T (p.Asp251=)
|
rs151169233
|
0.00124
|
|
NM_002334.4(LRP4):c.639C>T (p.Asp213=)
|
rs144974139
|
0.00124
|
|
NM_004380.3(CREBBP):c.4133+4A>G
|
rs372126168
|
0.00124
|
|
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala)
|
rs149803148
|
0.00121
|
|
NM_153717.3(EVC):c.1464+5C>T
|
rs369734950
|
0.00120
|
|
NM_020937.4(FANCM):c.4147T>G (p.Tyr1383Asp)
|
rs144104545
|
0.00118
|
|
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala)
|
rs34450503
|
0.00117
|
|
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr)
|
rs184556570
|
0.00117
|
|
NM_005592.4(MUSK):c.665A>G (p.Asn222Ser)
|
rs55826142
|
0.00116
|
|
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln)
|
rs61741781
|
0.00116
|
|
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr)
|
rs143936557
|
0.00115
|
|
NM_017617.5(NOTCH1):c.7648A>G (p.Ile2550Val)
|
rs188270459
|
0.00115
|
|
NM_005055.5(RAPSN):c.474C>T (p.Asp158=)
|
rs56245238
|
0.00114
|
|
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly)
|
rs116736407
|
0.00113
|
|
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys)
|
rs149082597
|
0.00111
|
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
|
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His)
|
rs201768800
|
0.00110
|
|
NM_173660.5(DOK7):c.332-43_332-18del
|
rs781466203
|
0.00108
|
|
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr)
|
rs148791570
|
0.00107
|
|
NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu)
|
rs556743028
|
0.00106
|
|
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu)
|
rs143818932
|
0.00106
|
|
NM_014918.5(CHSY1):c.612G>A (p.Thr204=)
|
rs145031427
|
0.00104
|
|
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)
|
rs145613634
|
0.00103
|
|
NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)
|
rs878852992
|
0.00102
|
|
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val)
|
rs140821039
|
0.00102
|
|
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)
|
rs142047649
|
0.00102
|
|
NM_173660.5(DOK7):c.641C>T (p.Pro214Leu)
|
rs147760280
|
0.00102
|
|
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile)
|
rs147973806
|
0.00101
|
|
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg)
|
rs139052603
|
0.00100
|
|
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)
|
rs41552412
|
0.00099
|
|
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp)
|
rs61742871
|
0.00098
|
|
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)
|
rs149097636
|
0.00098
|
|
NM_021922.3(FANCE):c.696G>A (p.Glu232=)
|
rs147356927
|
0.00098
|
|
NM_173660.5(DOK7):c.331+9C>T
|
rs370879328
|
0.00098
|
|
NM_173660.5(DOK7):c.816C>G (p.His272Gln)
|
rs115614731
|
0.00098
|
|
NM_001271938.2(MEGF8):c.5344-14C>T
|
rs369531263
|
0.00097
|
|
NM_147127.5(EVC2):c.707-18G>A
|
rs144093697
|
0.00097
|
|
NM_000751.3(CHRND):c.1400G>A (p.Arg467His)
|
rs148939701
|
0.00096
|
|
NM_001271938.2(MEGF8):c.2454C>T (p.Ser818=)
|
rs140035679
|
0.00096
|
|
NM_001271938.2(MEGF8):c.7136+10A>C
|
rs750945705
|
0.00096
|
|
NM_002968.3(SALL1):c.478G>A (p.Gly160Ser)
|
rs199760974
|
0.00093
|
|
NM_017617.5(NOTCH1):c.5506G>A (p.Asp1836Asn)
|
rs200100726
|
0.00093
|
|
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu)
|
rs147316771
|
0.00093
|
|
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)
|
rs557830930
|
0.00093
|
|
NM_017617.5(NOTCH1):c.1862G>A (p.Arg621His)
|
rs138504021
|
0.00092
|
|
NM_032444.4(SLX4):c.2047G>A (p.Ala683Thr)
|
rs115866745
|
0.00092
|
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
|
NM_001271938.2(MEGF8):c.3455C>T (p.Pro1152Leu)
|
rs367649187
|
0.00091
|
|
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala)
|
rs143006771
|
0.00091
|
|
NM_147127.5(EVC2):c.3272+7C>T
|
rs201048030
|
0.00090
|
|
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)
|
rs142063328
|
0.00089
|
|
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg)
|
rs563818052
|
0.00088
|
|
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr)
|
rs147044066
|
0.00088
|
|
NM_014918.5(CHSY1):c.1957C>G (p.Gln653Glu)
|
rs150075110
|
0.00088
|
|
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln)
|
rs202065858
|
0.00088
|
|
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser)
|
rs151234321
|
0.00086
|
|
NM_014918.5(CHSY1):c.21C>T (p.Arg7=)
|
rs751409111
|
0.00086
|
|
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=)
|
rs146054214
|
0.00085
|
|
NM_153717.3(EVC):c.1612C>G (p.Leu538Val)
|
rs147772724
|
0.00085
|
|
NM_004380.3(CREBBP):c.895A>G (p.Ser299Gly)
|
rs149961222
|
0.00084
|
|
NM_032634.4(PIGO):c.626A>G (p.Asn209Ser)
|
rs138028827
|
0.00084
|
|
NM_153717.3(EVC):c.2562-3C>T
|
rs375960614
|
0.00084
|
|
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=)
|
rs145349375
|
0.00083
|
|
NM_002334.4(LRP4):c.257G>A (p.Arg86His)
|
rs138239756
|
0.00083
|
|
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)
|
rs139382267
|
0.00083
|
|
NM_005236.3(ERCC4):c.1727G>C (p.Arg576Thr)
|
rs1800068
|
0.00082
|
|
NM_147127.5(EVC2):c.1005+3G>A
|
rs141371552
|
0.00082
|
|
NM_001374353.1(GLI2):c.4030G>T (p.Val1344Leu)
|
rs145939921
|
0.00081
|
|
NM_001429.4(EP300):c.2054-3T>C
|
rs375287913
|
0.00081
|
|
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=)
|
rs61751555
|
0.00080
|
|
NM_000079.4(CHRNA1):c.1139T>C (p.Met380Thr)
|
rs149292107
|
0.00079
|
|
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys)
|
rs79782048
|
0.00079
|
|
NM_021922.3(FANCE):c.522G>A (p.Gly174=)
|
rs145648734
|
0.00078
|
|
NM_032444.4(SLX4):c.85C>T (p.Arg29Cys)
|
rs144832924
|
0.00078
|
|
NM_000135.4(FANCA):c.2391G>A (p.Ala797=)
|
rs147882314
|
0.00076
|
|
NM_002334.4(LRP4):c.2868G>A (p.Glu956=)
|
rs145460760
|
0.00076
|
|
NM_020937.4(FANCM):c.2517T>G (p.Ile839Met)
|
rs61744648
|
0.00076
|
|
NM_002334.4(LRP4):c.5520T>C (p.His1840=)
|
rs144350829
|
0.00075
|
|
NM_001271938.2(MEGF8):c.7567A>G (p.Thr2523Ala)
|
rs139192223
|
0.00074
|
|
NM_001374353.1(GLI2):c.4073T>C (p.Leu1358Pro)
|
rs371219507
|
0.00074
|
|
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser)
|
rs148308496
|
0.00074
|
|
NM_001999.4(FBN2):c.2684A>G (p.Lys895Arg)
|
rs143565958
|
0.00074
|
|
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)
|
rs187473846
|
0.00074
|
|
NM_005592.4(MUSK):c.1779-7C>T
|
rs114362384
|
0.00072
|
|
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)
|
rs147488907
|
0.00069
|
|
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe)
|
rs141567438
|
0.00069
|
|
NM_153717.3(EVC):c.802-15_802-12del
|
rs386671011
|
0.00069
|
|
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=)
|
rs61733293
|
0.00068
|
|
NM_173660.5(DOK7):c.1171G>A (p.Gly391Arg)
|
rs144158112
|
0.00068
|
|
NM_001271938.2(MEGF8):c.8433C>T (p.His2811=)
|
rs371191311
|
0.00067
|
|
NM_005055.5(RAPSN):c.1190G>A (p.Arg397Gln)
|
rs139398367
|
0.00067
|
|
NM_032444.4(SLX4):c.2667A>G (p.Gln889=)
|
rs146790631
|
0.00066
|
|
NM_153717.3(EVC):c.2449+12C>G
|
rs751678723
|
0.00066
|
|
NM_000079.4(CHRNA1):c.1064A>G (p.Glu355Gly)
|
rs144533405
|
0.00065
|
|
NM_005055.5(RAPSN):c.412G>A (p.Val138Ile)
|
rs35810986
|
0.00065
|
|
NM_005592.4(MUSK):c.1719T>C (p.Asn573=)
|
rs373118888
|
0.00064
|
|
NM_017617.5(NOTCH1):c.4898G>A (p.Arg1633His)
|
rs375018022
|
0.00064
|
|
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)
|
rs142864437
|
0.00064
|
|
NM_147127.5(EVC2):c.328T>C (p.Phe110Leu)
|
rs150444745
|
0.00064
|
|
NM_002334.4(LRP4):c.4807A>G (p.Ile1603Val)
|
rs147688807
|
0.00063
|
|
NM_173660.5(DOK7):c.202G>A (p.Gly68Ser)
|
rs376509451
|
0.00063
|
|
NM_000135.4(FANCA):c.1537T>C (p.Leu513=)
|
rs144118098
|
0.00062
|
|
NM_001271938.2(MEGF8):c.3033C>T (p.Thr1011=)
|
rs145216125
|
0.00061
|
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
0.00061
|
|
NM_017617.5(NOTCH1):c.6836C>T (p.Ala2279Val)
|
rs200370953
|
0.00061
|
|
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro)
|
rs143819820
|
0.00061
|
|
NM_032444.4(SLX4):c.339T>C (p.Ser113=)
|
rs144326379
|
0.00061
|
|
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys)
|
rs185678374
|
0.00061
|
|
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg)
|
rs202039332
|
0.00060
|
|
NM_002334.4(LRP4):c.3390G>A (p.Ala1130=)
|
rs144639401
|
0.00060
|
|
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=)
|
rs139406689
|
0.00060
|
|
NM_001374353.1(GLI2):c.4577G>A (p.Arg1526His)
|
rs138987487
|
0.00059
|
|
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)
|
rs141268133
|
0.00059
|
|
NM_001271938.2(MEGF8):c.3843G>A (p.Arg1281=)
|
rs148792547
|
0.00058
|
|
NM_002334.4(LRP4):c.1194A>G (p.Glu398=)
|
rs138589242
|
0.00058
|
|
NM_002968.3(SALL1):c.1903C>T (p.Pro635Ser)
|
rs61731136
|
0.00058
|
|
NM_017617.5(NOTCH1):c.3835C>T (p.Arg1279Cys)
|
rs182330532
|
0.00058
|
|
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=)
|
rs371365065
|
0.00058
|
|
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile)
|
rs111627256
|
0.00058
|
|
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=)
|
rs200408837
|
0.00058
|
|
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile)
|
rs138398760
|
0.00057
|
|
NM_017617.5(NOTCH1):c.6291G>A (p.Pro2097=)
|
rs201987555
|
0.00057
|
|
NM_000135.4(FANCA):c.3514-13G>A
|
rs200270574
|
0.00056
|
|
NM_016277.5(RAB23):c.536A>C (p.Glu179Ala)
|
rs150440590
|
0.00056
|
|
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser)
|
rs199654211
|
0.00056
|
|
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)
|
rs139002130
|
0.00055
|
|
NM_020937.4(FANCM):c.4673-12A>G
|
rs373163994
|
0.00055
|
|
NM_153717.3(EVC):c.1128G>A (p.Ala376=)
|
rs111234281
|
0.00055
|
|
NM_000079.4(CHRNA1):c.1293C>T (p.Leu431=)
|
rs146899588
|
0.00054
|
|
NM_001429.4(EP300):c.316A>G (p.Ser106Gly)
|
rs150245975
|
0.00054
|
|
NM_014918.5(CHSY1):c.261C>T (p.Leu87=)
|
rs369927768
|
0.00054
|
|
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)
|
rs1800346
|
0.00053
|
|
NM_001374353.1(GLI2):c.148+5T>C
|
rs201273354
|
0.00053
|
|
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His)
|
rs149091975
|
0.00053
|
|
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg)
|
rs141141752
|
0.00052
|
|
NM_002334.4(LRP4):c.676+13G>A
|
rs200963011
|
0.00052
|
|
NM_032444.4(SLX4):c.2756C>T (p.Thr919Ile)
|
rs145533919
|
0.00052
|
|
NM_000135.4(FANCA):c.893+19C>G
|
rs377406711
|
0.00051
|
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
|
NM_000751.3(CHRND):c.817G>A (p.Asp273Asn)
|
rs202209156
|
0.00051
|
|
NM_005445.4(SMC3):c.2535+18T>G
|
rs370144623
|
0.00051
|
|
NM_013352.4(DSE):c.1173G>A (p.Leu391=)
|
rs146663575
|
0.00051
|
|
NM_013352.4(DSE):c.1653G>A (p.Leu551=)
|
rs147124340
|
0.00051
|
|
NM_017617.5(NOTCH1):c.5781G>A (p.Thr1927=)
|
rs367587437
|
0.00051
|
|
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=)
|
rs369167693
|
0.00051
|
|
NM_020937.4(FANCM):c.5067G>A (p.Ala1689=)
|
rs148900115
|
0.00051
|
|
NM_032043.3(BRIP1):c.1935+11G>A
|
rs79121306
|
0.00051
|
|
NM_153717.3(EVC):c.569G>T (p.Arg190Leu)
|
rs113002470
|
0.00051
|
|
NM_001113525.2(ZNF276):c.*470A>C
|
rs372268907
|
0.00049
|
|
NM_001999.4(FBN2):c.5674+7A>G
|
rs367877964
|
0.00049
|
|
NM_001999.4(FBN2):c.8537G>A (p.Arg2846His)
|
rs200345491
|
0.00049
|
|
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=)
|
rs370565083
|
0.00049
|
|
NM_005592.4(MUSK):c.2393A>G (p.Tyr798Cys)
|
rs188840021
|
0.00049
|
|
NM_014918.5(CHSY1):c.2040C>G (p.Ala680=)
|
rs145837770
|
0.00049
|
|
NM_022725.4(FANCF):c.672C>T (p.Pro224=)
|
rs148955347
|
0.00049
|
|
NM_147127.5(EVC2):c.1886+7C>G
|
rs376738238
|
0.00049
|
|
NM_017617.5(NOTCH1):c.3970G>A (p.Val1324Met)
|
rs149057410
|
0.00048
|
|
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)
|
rs143615668
|
0.00048
|
|
NM_133433.4(NIPBL):c.615G>A (p.Ser205=)
|
rs150678035
|
0.00048
|
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
|
NM_020937.4(FANCM):c.1551G>A (p.Thr517=)
|
rs139535827
|
0.00047
|
|
NM_020937.4(FANCM):c.3681A>G (p.Leu1227=)
|
rs61749475
|
0.00047
|
|
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile)
|
rs200776757
|
0.00047
|
|
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=)
|
rs200742809
|
0.00047
|
|
NM_000136.3(FANCC):c.672C>T (p.Asn224=)
|
rs150647141
|
0.00046
|
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
|
NM_000474.4(TWIST1):c.420G>C (p.Ser140=)
|
rs73079389
|
0.00046
|
|
NM_000751.3(CHRND):c.408C>T (p.Tyr136=)
|
rs112921420
|
0.00046
|
|
NM_001374353.1(GLI2):c.2804G>C (p.Gly935Ala)
|
rs970835131
|
0.00046
|
|
NM_005055.5(RAPSN):c.492C>T (p.Arg164=)
|
rs146237774
|
0.00046
|
|
NM_017617.5(NOTCH1):c.6409C>T (p.Pro2137Ser)
|
rs372698234
|
0.00046
|
|
NM_020937.4(FANCM):c.159C>T (p.Asp53=)
|
rs147559750
|
0.00046
|
|
NM_147127.5(EVC2):c.1452G>A (p.Leu484=)
|
rs137884710
|
0.00046
|
|
NM_147127.5(EVC2):c.2897C>T (p.Ser966Leu)
|
rs145425340
|
0.00046
|
|
NM_173660.5(DOK7):c.296C>T (p.Ala99Val)
|
rs138010842
|
0.00046
|
|
NM_001271938.2(MEGF8):c.281C>T (p.Pro94Leu)
|
rs570125469
|
0.00045
|
|
NM_001429.4(EP300):c.6417C>T (p.Gly2139=)
|
rs111315183
|
0.00045
|
|
NM_005055.5(RAPSN):c.1166+16G>A
|
rs377580268
|
0.00045
|
|
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)
|
rs568700183
|
0.00045
|
|
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=)
|
rs201358664
|
0.00045
|
|
NM_173660.5(DOK7):c.1258C>G (p.Pro420Ala)
|
rs150497723
|
0.00045
|
|
NM_001999.4(FBN2):c.5675-8dup
|
rs767398234
|
0.00044
|
|
NM_005592.4(MUSK):c.1025C>T (p.Ala342Val)
|
rs375762569
|
0.00044
|
|
NM_017617.5(NOTCH1):c.1553C>T (p.Thr518Met)
|
rs377535397
|
0.00044
|
|
NM_017617.5(NOTCH1):c.4262A>G (p.Asn1421Ser)
|
rs76473337
|
0.00044
|
|
NM_020436.5(SALL4):c.2268C>T (p.Ser756=)
|
rs145078336
|
0.00044
|
|
NM_032444.4(SLX4):c.1707G>A (p.Pro569=)
|
rs141687678
|
0.00044
|
|
NM_153717.3(EVC):c.1653G>A (p.Pro551=)
|
rs151293705
|
0.00044
|
|
NM_000135.4(FANCA):c.3408+9C>G
|
rs377702890
|
0.00043
|
|
NM_005592.4(MUSK):c.1057C>A (p.His353Asn)
|
rs201791900
|
0.00043
|
|
NM_133433.4(NIPBL):c.7807A>T (p.Asn2603Tyr)
|
rs138514909
|
0.00043
|
|
NM_147127.5(EVC2):c.229-4T>G
|
rs375534154
|
0.00043
|
|
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)
|
rs141367100
|
0.00042
|
|
NM_001999.4(FBN2):c.7012+7G>A
|
rs199735209
|
0.00042
|
|
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys)
|
rs146781484
|
0.00042
|
|
NM_002334.4(LRP4):c.3944C>T (p.Ser1315Leu)
|
rs150681693
|
0.00042
|
|
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr)
|
rs121909633
|
0.00042
|
|
NM_153717.3(EVC):c.1540G>A (p.Glu514Lys)
|
rs141896077
|
0.00042
|
|
NM_000751.3(CHRND):c.1416C>T (p.Leu472=)
|
rs145857136
|
0.00041
|
|
NM_001271938.2(MEGF8):c.6274-9C>G
|
rs373417416
|
0.00041
|
|
NM_001374353.1(GLI2):c.2034G>A (p.Thr678=)
|
rs139298853
|
0.00041
|
|
NM_001374353.1(GLI2):c.3672G>A (p.Met1224Ile)
|
rs138191075
|
0.00041
|
|
NM_001429.4(EP300):c.739A>G (p.Met247Val)
|
rs147583157
|
0.00041
|
|
NM_001999.4(FBN2):c.1435G>A (p.Gly479Arg)
|
rs147346327
|
0.00041
|
|
NM_003334.4(UBA1):c.873C>T (p.Ile291=)
|
rs143062483
|
0.00041
|
|
NM_004380.3(CREBBP):c.879G>A (p.Val293=)
|
rs144344016
|
0.00041
|
|
NM_017617.5(NOTCH1):c.701G>A (p.Arg234His)
|
rs150737112
|
0.00041
|
|
NM_020937.4(FANCM):c.4084G>A (p.Asp1362Asn)
|
rs199895244
|
0.00041
|
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
|
NM_032444.4(SLX4):c.4494G>A (p.Leu1498=)
|
rs146532299
|
0.00041
|
|
NM_153717.3(EVC):c.1892C>T (p.Thr631Met)
|
rs139481521
|
0.00041
|
|
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala)
|
rs200837433
|
0.00040
|
|
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu)
|
rs200716582
|
0.00040
|
|
NM_005445.4(SMC3):c.2535+15T>G
|
rs3818903
|
0.00040
|
|
NM_017617.5(NOTCH1):c.3644-4G>A
|
rs376161552
|
0.00040
|
|
NM_032444.4(SLX4):c.2160+18C>T
|
rs373726275
|
0.00040
|
|
NM_032634.4(PIGO):c.1277C>A (p.Ala426Asp)
|
rs147098410
|
0.00040
|
|
NM_000079.4(CHRNA1):c.779-12_779-11del
|
rs1491478953
|
0.00039
|
|
NM_001999.4(FBN2):c.209T>C (p.Val70Ala)
|
rs144149249
|
0.00039
|
|
NM_020436.5(SALL4):c.24A>G (p.Lys8=)
|
rs149430070
|
0.00039
|
|
NM_020937.4(FANCM):c.2127G>A (p.Gln709=)
|
rs141452622
|
0.00039
|
|
NM_001999.4(FBN2):c.8428T>A (p.Ser2810Thr)
|
rs186577030
|
0.00038
|
|
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=)
|
rs146655918
|
0.00038
|
|
NM_004380.3(CREBBP):c.458C>T (p.Pro153Leu)
|
rs146538907
|
0.00038
|
|
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)
|
rs138532294
|
0.00038
|
|
NM_005592.4(MUSK):c.1928-4C>A
|
rs375406874
|
0.00038
|
|
NM_012243.3(SLC35A3):c.63T>G (p.Val21=)
|
rs141542767
|
0.00038
|
|
NM_032634.4(PIGO):c.655+7A>C
|
rs118002220
|
0.00038
|
|
NM_147127.5(EVC2):c.3288A>G (p.Gln1096=)
|
rs138902279
|
0.00038
|
|
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)
|
rs142217479
|
0.00037
|
|
NM_001018115.3(FANCD2):c.2273G>C (p.Cys758Ser)
|
rs540805431
|
0.00037
|
|
NM_001271938.2(MEGF8):c.7089C>T (p.Cys2363=)
|
rs138235390
|
0.00037
|
|
NM_001374353.1(GLI2):c.3575G>T (p.Ser1192Ile)
|
rs138909736
|
0.00037
|
|
NM_001374353.1(GLI2):c.598G>A (p.Ala200Thr)
|
rs111840592
|
0.00037
|
|
NM_016277.5(RAB23):c.482-13C>G
|
rs372666007
|
0.00037
|
|
NM_023110.3(FGFR1):c.177C>T (p.Asp59=)
|
rs367880371
|
0.00037
|
|
NM_147127.5(EVC2):c.3272+17G>A
|
rs367667945
|
0.00037
|
|
NM_153717.3(EVC):c.2782+15C>G
|
rs373862588
|
0.00037
|
|
NM_153717.3(EVC):c.2805G>A (p.Arg935=)
|
rs143631233
|
0.00037
|
|
NM_173660.5(DOK7):c.332-5C>T
|
rs375468951
|
0.00037
|
|
NM_000079.4(CHRNA1):c.780G>A (p.Gly260=)
|
rs148502695
|
0.00036
|
|
NM_000135.4(FANCA):c.3981C>T (p.His1327=)
|
rs141278771
|
0.00036
|
|
NM_000136.3(FANCC):c.457-18A>G
|
rs377206543
|
0.00036
|
|
NM_000474.4(TWIST1):c.247G>A (p.Gly83Ser)
|
rs545987863
|
0.00036
|
|
NM_000751.3(CHRND):c.198+14C>T
|
rs199538903
|
0.00036
|
|
NM_000751.3(CHRND):c.44C>T (p.Ala15Val)
|
rs142531974
|
0.00036
|
|
NM_000751.3(CHRND):c.813G>A (p.Pro271=)
|
rs147073853
|
0.00036
|
|
NM_001018115.3(FANCD2):c.2180C>T (p.Pro727Leu)
|
rs146509445
|
0.00036
|
|
NM_001113378.2(FANCI):c.1992+10T>C
|
rs375345390
|
0.00036
|
|
NM_001374353.1(GLI2):c.2271T>C (p.Ser757=)
|
rs553560055
|
0.00036
|
|
NM_018062.4(FANCL):c.534A>G (p.Thr178=)
|
rs151181785
|
0.00036
|
|
NM_173660.5(DOK7):c.972G>A (p.Pro324=)
|
rs373041663
|
0.00036
|
|
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)
|
rs143642304
|
0.00035
|
|
NM_000135.4(FANCA):c.543G>A (p.Ala181=)
|
rs143314367
|
0.00035
|
|
NM_000751.3(CHRND):c.946G>A (p.Gly316Ser)
|
rs139190636
|
0.00035
|
|
NM_001374353.1(GLI2):c.305G>A (p.Arg102Gln)
|
rs148442092
|
0.00035
|
|
NM_001374353.1(GLI2):c.3309C>T (p.Ser1103=)
|
rs145751002
|
0.00035
|
|
NM_001999.4(FBN2):c.5031C>T (p.Cys1677=)
|
rs147452231
|
0.00035
|
|
NM_001999.4(FBN2):c.6511+4C>T
|
rs368610241
|
0.00035
|
|
NM_005592.4(MUSK):c.2082C>A (p.Pro694=)
|
rs201616041
|
0.00035
|
|
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=)
|
rs377217445
|
0.00035
|
|
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=)
|
rs369845924
|
0.00035
|
|
NM_017617.5(NOTCH1):c.6636C>T (p.Asp2212=)
|
rs370606059
|
0.00035
|
|
NM_000135.4(FANCA):c.1827-19T>C
|
rs370677007
|
0.00034
|
|
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=)
|
rs371915501
|
0.00034
|
|
NM_001113378.2(FANCI):c.2291+12C>G
|
rs369540539
|
0.00034
|
|
NM_001271938.2(MEGF8):c.390G>A (p.Leu130=)
|
rs377093238
|
0.00034
|
|
NM_001999.4(FBN2):c.3087C>T (p.Val1029=)
|
rs777392642
|
0.00034
|
|
NM_002968.3(SALL1):c.1322C>A (p.Thr441Asn)
|
rs76275412
|
0.00034
|
|
NM_005592.4(MUSK):c.300G>A (p.Thr100=)
|
rs180928221
|
0.00034
|
|
NM_006265.3(RAD21):c.1705-12G>A
|
rs189362023
|
0.00034
|
|
NM_012243.3(SLC35A3):c.933G>A (p.Leu311=)
|
rs139479346
|
0.00034
|
|
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser)
|
rs201077220
|
0.00034
|
|
NM_017617.5(NOTCH1):c.2495C>T (p.Pro832Leu)
|
rs559917218
|
0.00034
|
|
NM_032043.3(BRIP1):c.380-17T>A
|
rs200050729
|
0.00034
|
|
NM_058216.3(RAD51C):c.571+16A>G
|
rs141621051
|
0.00034
|
|
NM_147127.5(EVC2):c.1470+20A>G
|
rs375025494
|
0.00034
|
|
NM_153717.3(EVC):c.2712C>T (p.Ser904=)
|
rs146829332
|
0.00034
|
|
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=)
|
rs200831069
|
0.00033
|
|
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=)
|
rs143907156
|
0.00033
|
|
NM_001999.4(FBN2):c.7205G>A (p.Arg2402His)
|
rs148014419
|
0.00033
|
|
NM_005236.3(ERCC4):c.1297T>C (p.Leu433=)
|
rs116615540
|
0.00033
|
|
NM_017617.5(NOTCH1):c.1038C>T (p.His346=)
|
rs376951155
|
0.00033
|
|
NM_023110.3(FGFR1):c.1431-5G>A
|
rs201773631
|
0.00033
|
|
NM_147127.5(EVC2):c.48G>T (p.Gly16=)
|
rs537265864
|
0.00033
|
|
NM_153717.3(EVC):c.2132A>G (p.Glu711Gly)
|
rs373726507
|
0.00033
|
|
NM_001113378.2(FANCI):c.3947G>A (p.Gly1316Glu)
|
rs138461165
|
0.00032
|
|
NM_001999.4(FBN2):c.339G>A (p.Pro113=)
|
rs144540627
|
0.00032
|
|
NM_005592.4(MUSK):c.486G>C (p.Arg162Ser)
|
rs200750233
|
0.00032
|
|
NM_018062.4(FANCL):c.546C>T (p.Ser182=)
|
rs200679501
|
0.00032
|
|
NM_032634.4(PIGO):c.969T>G (p.Leu323=)
|
rs142658052
|
0.00032
|
|
NM_173660.5(DOK7):c.313C>T (p.Arg105Cys)
|
rs115883468
|
0.00032
|
|
NM_000751.3(CHRND):c.933-9T>C
|
rs199592458
|
0.00031
|
|
NM_001018113.3(FANCB):c.2228T>G (p.Phe743Cys)
|
rs747865842
|
0.00031
|
|
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met)
|
rs201436396
|
0.00031
|
|
NM_001018115.3(FANCD2):c.33G>A (p.Glu11=)
|
rs147426418
|
0.00031
|
|
NM_001271938.2(MEGF8):c.5512A>G (p.Met1838Val)
|
rs200501111
|
0.00031
|
|
NM_001271938.2(MEGF8):c.8271C>T (p.Pro2757=)
|
rs755400663
|
0.00031
|
|
NM_001999.4(FBN2):c.1256A>G (p.Asp419Gly)
|
rs140464202
|
0.00031
|
|
NM_002334.4(LRP4):c.3004+19G>T
|
rs376749778
|
0.00031
|
|
NM_002334.4(LRP4):c.4536A>T (p.Thr1512=)
|
rs144169411
|
0.00031
|
|
NM_017617.5(NOTCH1):c.2674C>T (p.Arg892Cys)
|
rs578228721
|
0.00031
|
|
NM_017617.5(NOTCH1):c.7223T>C (p.Leu2408Pro)
|
rs767728582
|
0.00031
|
|
NM_020436.5(SALL4):c.1391C>T (p.Pro464Leu)
|
rs139485493
|
0.00031
|
|
NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser)
|
rs150402866
|
0.00031
|
|
NM_032444.4(SLX4):c.1470C>T (p.Leu490=)
|
rs139766312
|
0.00031
|
|
NM_032444.4(SLX4):c.2609C>T (p.Ala870Val)
|
rs149584080
|
0.00031
|
|
NM_173660.5(DOK7):c.975G>A (p.Arg325=)
|
rs370661591
|
0.00031
|
|
NM_000135.4(FANCA):c.1225+12C>T
|
rs200672872
|
0.00030
|
|
NM_000135.4(FANCA):c.1716-20T>C
|
rs367726674
|
0.00030
|
|
NM_000135.4(FANCA):c.2478G>A (p.Thr826=)
|
rs147283549
|
0.00030
|
|
NM_000135.4(FANCA):c.3792C>T (p.Ser1264=)
|
rs141128234
|
0.00030
|
|
NM_001999.4(FBN2):c.3740T>C (p.Met1247Thr)
|
rs149054177
|
0.00030
|
|
NM_002334.4(LRP4):c.2815-6T>G
|
rs372210790
|
0.00030
|
|
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro)
|
rs587783504
|
0.00030
|
|
NM_147127.5(EVC2):c.2304G>C (p.Val768=)
|
rs139936564
|
0.00030
|
|
NM_173660.5(DOK7):c.567G>A (p.Gly189=)
|
rs141808910
|
0.00030
|
|
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)
|
rs149551759
|
0.00029
|
|
NM_000135.4(FANCA):c.2637C>T (p.Ala879=)
|
rs149435806
|
0.00029
|
|
NM_000135.4(FANCA):c.577C>G (p.Leu193Val)
|
rs141861208
|
0.00029
|
|
NM_001018115.3(FANCD2):c.1134+8T>G
|
rs373232961
|
0.00029
|
|
NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=)
|
rs373461068
|
0.00029
|
|
NM_001374353.1(GLI2):c.3572G>A (p.Arg1191His)
|
rs200537256
|
0.00029
|
|
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe)
|
rs201220519
|
0.00029
|
|
NM_004380.3(CREBBP):c.2239A>G (p.Met747Val)
|
rs142932907
|
0.00029
|
|
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=)
|
rs146168040
|
0.00029
|
|
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=)
|
rs149055008
|
0.00029
|
|
NM_005592.4(MUSK):c.1951A>C (p.Met651Leu)
|
rs199811263
|
0.00029
|
|
NM_005592.4(MUSK):c.2200G>A (p.Gly734Ser)
|
rs376635652
|
0.00029
|
|
NM_006265.3(RAD21):c.735C>T (p.Pro245=)
|
rs199767556
|
0.00029
|
|
NM_013352.4(DSE):c.1004G>A (p.Arg335His)
|
rs371480627
|
0.00029
|
|
NM_017617.5(NOTCH1):c.2434G>A (p.Gly812Arg)
|
rs201620755
|
0.00029
|
|
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys)
|
rs17182463
|
0.00029
|
|
NM_032444.4(SLX4):c.3663G>A (p.Ala1221=)
|
rs760656992
|
0.00029
|
|
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser)
|
rs142703446
|
0.00029
|
|
NM_153717.3(EVC):c.1928G>A (p.Arg643His)
|
rs144906677
|
0.00029
|
|
NM_000135.4(FANCA):c.801T>C (p.Val267=)
|
rs55660936
|
0.00028
|
|
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala)
|
rs149223439
|
0.00028
|
|
NM_001999.4(FBN2):c.217C>A (p.Arg73Ser)
|
rs148493036
|
0.00028
|
|
NM_002968.3(SALL1):c.477C>A (p.Ser159Arg)
|
rs757737676
|
0.00028
|
|
NM_004629.2(FANCG):c.1545C>T (p.Ala515=)
|
rs201422773
|
0.00028
|
|
NM_005055.5(RAPSN):c.816C>T (p.Ala272=)
|
rs779303374
|
0.00028
|
|
NM_005055.5(RAPSN):c.903G>A (p.Ala301=)
|
rs56040810
|
0.00028
|
|
NM_020436.5(SALL4):c.702G>A (p.Gln234=)
|
rs146143890
|
0.00028
|
|
NM_147127.5(EVC2):c.1886+11A>G
|
rs61218140
|
0.00028
|
|
NM_000136.3(FANCC):c.166-7T>C
|
rs369052148
|
0.00027
|
|
NM_001113378.2(FANCI):c.528A>G (p.Gln176=)
|
rs145939211
|
0.00027
|
|
NM_001271938.2(MEGF8):c.6395G>A (p.Arg2132Gln)
|
rs201140958
|
0.00027
|
|
NM_002968.3(SALL1):c.387C>T (p.Ala129=)
|
rs147647889
|
0.00027
|
|
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)
|
rs145315496
|
0.00027
|
|
NM_012243.3(SLC35A3):c.753+9T>G
|
rs200265486
|
0.00027
|
|
NM_023110.3(FGFR1):c.359-4A>G
|
rs185233212
|
0.00027
|
|
NM_153717.3(EVC):c.802-12C>T
|
rs61514191
|
0.00027
|
|
NM_173660.5(DOK7):c.208C>A (p.Pro70Thr)
|
rs539190403
|
0.00027
|
|
NM_173660.5(DOK7):c.839G>A (p.Arg280Gln)
|
rs144269117
|
0.00027
|
|
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)
|
rs138248569
|
0.00026
|
|
NM_000751.3(CHRND):c.651G>A (p.Pro217=)
|
rs146205427
|
0.00026
|
|
NM_001018115.3(FANCD2):c.1766+16C>T
|
rs201040143
|
0.00026
|
|
NM_001113378.2(FANCI):c.1822-18C>T
|
rs373603139
|
0.00026
|
|
NM_001271938.2(MEGF8):c.3873G>A (p.Gly1291=)
|
rs373710119
|
0.00026
|
|
NM_001271938.2(MEGF8):c.4041C>T (p.Phe1347=)
|
rs148895205
|
0.00026
|
|
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser)
|
rs144547088
|
0.00026
|
|
NM_001999.4(FBN2):c.1850-9C>T
|
rs199937209
|
0.00026
|
|
NM_001999.4(FBN2):c.2651G>C (p.Ser884Thr)
|
rs139035999
|
0.00026
|
|
NM_006265.3(RAD21):c.1185G>A (p.Pro395=)
|
rs138247094
|
0.00026
|
|
NM_016277.5(RAB23):c.51T>C (p.Asn17=)
|
rs141279756
|
0.00026
|
|
NM_017617.5(NOTCH1):c.5638+19A>G
|
rs368675083
|
0.00026
|
|
NM_020436.5(SALL4):c.1358A>G (p.Asn453Ser)
|
rs146644204
|
0.00026
|
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
|
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=)
|
rs371347218
|
0.00026
|
|
NM_153717.3(EVC):c.1797G>A (p.Ala599=)
|
rs199875230
|
0.00026
|
|
NM_173660.5(DOK7):c.1205G>A (p.Arg402Gln)
|
rs370039804
|
0.00026
|
|
NM_000135.4(FANCA):c.2799A>G (p.Leu933=)
|
rs148250597
|
0.00025
|
|
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)
|
rs376349741
|
0.00025
|
|
NM_001271938.2(MEGF8):c.1275T>C (p.Leu425=)
|
rs370779185
|
0.00025
|
|
NM_001271938.2(MEGF8):c.3625C>T (p.Arg1209Trp)
|
rs372257661
|
0.00025
|
|
NM_001429.4(EP300):c.5172C>A (p.Thr1724=)
|
rs142330184
|
0.00025
|
|
NM_002334.4(LRP4):c.273C>T (p.Asp91=)
|
rs150401820
|
0.00025
|
|
NM_003334.4(UBA1):c.2299G>A (p.Ala767Thr)
|
rs187589555
|
0.00025
|
|
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn)
|
rs201776972
|
0.00025
|
|
NM_000135.4(FANCA):c.2589C>A (p.Gly863=)
|
rs72807571
|
0.00024
|
|
NM_001374353.1(GLI2):c.2013C>T (p.Pro671=)
|
rs147314921
|
0.00024
|
|
NM_001374353.1(GLI2):c.4473C>T (p.Pro1491=)
|
rs139840265
|
0.00024
|
|
NM_001429.4(EP300):c.5808G>A (p.Ala1936=)
|
rs144798492
|
0.00024
|
|
NM_002334.4(LRP4):c.1059G>A (p.Thr353=)
|
rs144710408
|
0.00024
|
|
NM_002968.3(SALL1):c.3729C>T (p.Asn1243=)
|
rs148612488
|
0.00024
|
|
NM_004380.3(CREBBP):c.4251C>T (p.Tyr1417=)
|
rs61731412
|
0.00024
|
|
NM_005055.5(RAPSN):c.776G>A (p.Arg259His)
|
rs766051613
|
0.00024
|
|
NM_014918.5(CHSY1):c.2352A>G (p.Lys784=)
|
rs201612305
|
0.00024
|
|
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=)
|
rs147086700
|
0.00024
|
|
NM_017617.5(NOTCH1):c.3114C>T (p.Asp1038=)
|
rs769755236
|
0.00024
|
|
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu)
|
rs375897519
|
0.00024
|
|
NM_017617.5(NOTCH1):c.879C>T (p.Thr293=)
|
rs370170212
|
0.00024
|
|
NM_020436.5(SALL4):c.2664C>T (p.His888=)
|
rs11698418
|
0.00024
|
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
|
NM_032444.4(SLX4):c.4590G>A (p.Met1530Ile)
|
rs147315419
|
0.00024
|
|
NM_032444.4(SLX4):c.742G>A (p.Glu248Lys)
|
rs148547201
|
0.00024
|
|
NM_032634.4(PIGO):c.2635G>A (p.Val879Ile)
|
rs139155910
|
0.00024
|
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
|
NM_133433.4(NIPBL):c.5101T>C (p.Ser1701Pro)
|
rs139819353
|
0.00024
|
|
NM_147127.5(EVC2):c.2898G>A (p.Ser966=)
|
rs150055324
|
0.00024
|
|
NM_173660.5(DOK7):c.54+23_54+24insA
|
rs759348603
|
0.00024
|
|
NM_173660.5(DOK7):c.668G>A (p.Gly223Glu)
|
rs146895834
|
0.00024
|
|
NM_001018115.3(FANCD2):c.2181G>A (p.Pro727=)
|
rs560600678
|
0.00023
|
|
NM_001018115.3(FANCD2):c.609T>C (p.Ala203=)
|
rs374019283
|
0.00023
|
|
NM_001271938.2(MEGF8):c.8373C>T (p.Pro2791=)
|
rs374532854
|
0.00023
|
|
NM_001374353.1(GLI2):c.243C>T (p.His81=)
|
rs147403076
|
0.00023
|
|
NM_002968.3(SALL1):c.3750C>T (p.Asn1250=)
|
rs142653419
|
0.00023
|
|
NM_017617.5(NOTCH1):c.2349C>T (p.Phe783=)
|
rs200092299
|
0.00023
|
|
NM_017617.5(NOTCH1):c.6898G>A (p.Gly2300Arg)
|
rs587778573
|
0.00023
|
|
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=)
|
rs200814776
|
0.00023
|
|
NM_153717.3(EVC):c.174+16A>G
|
rs1049950431
|
0.00023
|
|
NM_000079.4(CHRNA1):c.861G>A (p.Thr287=)
|
rs144020157
|
0.00022
|
|
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)
|
rs146491000
|
0.00022
|
|
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)
|
rs143772894
|
0.00022
|
|
NM_001018115.3(FANCD2):c.3654A>G (p.Ala1218=)
|
rs556548817
|
0.00022
|
|
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met)
|
rs191202700
|
0.00022
|
|
NM_001113525.2(ZNF276):c.*1862C>T
|
rs776077648
|
0.00022
|
|
NM_001271938.2(MEGF8):c.8133G>A (p.Pro2711=)
|
rs370578585
|
0.00022
|
|
NM_001429.4(EP300):c.2110C>T (p.Pro704Ser)
|
rs149858781
|
0.00022
|
|
NM_001429.4(EP300):c.444G>A (p.Thr148=)
|
rs376779611
|
0.00022
|
|
NM_001999.4(FBN2):c.5917+9T>G
|
rs371439173
|
0.00022
|
|
NM_002334.4(LRP4):c.378G>A (p.Leu126=)
|
rs201749120
|
0.00022
|
|
NM_005592.4(MUSK):c.1743C>A (p.Ile581=)
|
rs756096336
|
0.00022
|
|
NM_005592.4(MUSK):c.549A>G (p.Glu183=)
|
rs369254308
|
0.00022
|
|
NM_017617.5(NOTCH1):c.1956G>A (p.Ser652=)
|
rs376101458
|
0.00022
|
|
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=)
|
rs199892488
|
0.00022
|
|
NM_018062.4(FANCL):c.155+9G>C
|
rs370392756
|
0.00022
|
|
NM_032444.4(SLX4):c.1065G>A (p.Gln355=)
|
rs200183071
|
0.00022
|
|
NM_130468.4(CHST14):c.993C>A (p.Ala331=)
|
rs138273557
|
0.00022
|
|
NM_153717.3(EVC):c.442T>C (p.Leu148=)
|
rs139931919
|
0.00022
|
|
NM_173660.5(DOK7):c.1279G>A (p.Gly427Ser)
|
rs377555406
|
0.00022
|
|
NM_173660.5(DOK7):c.282C>T (p.His94=)
|
rs377025553
|
0.00022
|
|
NM_173660.5(DOK7):c.846C>T (p.Thr282=)
|
rs141147662
|
0.00022
|
|
NM_000079.4(CHRNA1):c.319C>T (p.Arg107Cys)
|
rs140268343
|
0.00021
|
|
NM_000079.4(CHRNA1):c.513C>T (p.Tyr171=)
|
rs762327875
|
0.00021
|
|
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=)
|
rs202107465
|
0.00021
|
|
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)
|
rs142784426
|
0.00021
|
|
NM_001018115.3(FANCD2):c.696-18T>G
|
rs56083801
|
0.00021
|
|
NM_001113378.2(FANCI):c.3006+11C>T
|
rs372049835
|
0.00021
|
|
NM_001278689.2(EOGT):c.516-9A>G
|
rs374408350
|
0.00021
|
|
NM_001374353.1(GLI2):c.1106T>C (p.Val369Ala)
|
rs377454502
|
0.00021
|
|
NM_001374353.1(GLI2):c.2007G>A (p.Thr669=)
|
rs138592005
|
0.00021
|
|
NM_001999.4(FBN2):c.3394G>A (p.Val1132Ile)
|
rs138834515
|
0.00021
|
|
NM_001999.4(FBN2):c.5004C>T (p.Asn1668=)
|
rs140012679
|
0.00021
|
|
NM_001999.4(FBN2):c.8282C>T (p.Ala2761Val)
|
rs201962592
|
0.00021
|
|
NM_002334.4(LRP4):c.3384G>A (p.Gly1128=)
|
rs144335505
|
0.00021
|
|
NM_002334.4(LRP4):c.4923C>T (p.Asp1641=)
|
rs150734530
|
0.00021
|
|
NM_005236.3(ERCC4):c.2694T>C (p.Tyr898=)
|
rs138296474
|
0.00021
|
|
NM_005236.3(ERCC4):c.738G>A (p.Ser246=)
|
rs146650135
|
0.00021
|
|
NM_017617.5(NOTCH1):c.2970-9C>T
|
rs568052902
|
0.00021
|
|
NM_017617.5(NOTCH1):c.5604C>T (p.Asp1868=)
|
rs370916730
|
0.00021
|
|
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met)
|
rs202096917
|
0.00021
|
|
NM_017617.5(NOTCH1):c.7298T>C (p.Phe2433Ser)
|
rs201493851
|
0.00021
|
|
NM_017617.5(NOTCH1):c.7387G>A (p.Ala2463Thr)
|
rs537210445
|
0.00021
|
|
NM_020436.5(SALL4):c.447G>A (p.Ala149=)
|
rs147838161
|
0.00021
|
|
NM_020937.4(FANCM):c.5108A>G (p.His1703Arg)
|
rs146897650
|
0.00021
|
|
NM_021922.3(FANCE):c.1316+10C>T
|
rs200479051
|
0.00021
|
|
NM_022725.4(FANCF):c.687A>T (p.Ser229=)
|
rs776140806
|
0.00021
|
|
NM_023110.3(FGFR1):c.168G>A (p.Arg56=)
|
rs147482922
|
0.00021
|
|
NM_032043.3(BRIP1):c.852C>T (p.Val284=)
|
rs144940449
|
0.00021
|
|
NM_147127.5(EVC2):c.894C>T (p.His298=)
|
rs143027693
|
0.00021
|
|
NM_173660.5(DOK7):c.665C>T (p.Pro222Leu)
|
rs141141719
|
0.00021
|
|
NM_000079.4(CHRNA1):c.1294G>A (p.Gly432Arg)
|
rs151081792
|
0.00020
|
|
NM_000751.3(CHRND):c.45G>A (p.Ala15=)
|
rs138609765
|
0.00020
|
|
NM_000751.3(CHRND):c.932+10G>A
|
rs370309294
|
0.00020
|
|
NM_001271938.2(MEGF8):c.740-6C>T
|
rs372546741
|
0.00020
|
|
NM_001374353.1(GLI2):c.2502C>T (p.Ser834=)
|
rs765818439
|
0.00020
|
|
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=)
|
rs200499325
|
0.00020
|
|
NM_001999.4(FBN2):c.8595C>T (p.Pro2865=)
|
rs137914321
|
0.00020
|
|
NM_002334.4(LRP4):c.1491C>T (p.Leu497=)
|
rs146501212
|
0.00020
|
|
NM_014918.5(CHSY1):c.203C>T (p.Ala68Val)
|
rs780349909
|
0.00020
|
|
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met)
|
rs61755997
|
0.00020
|
|
NM_017617.5(NOTCH1):c.2433C>T (p.Ala811=)
|
rs61751552
|
0.00020
|
|
NM_017617.5(NOTCH1):c.3325+11G>A
|
rs373779257
|
0.00020
|
|
NM_017617.5(NOTCH1):c.7090A>G (p.Ser2364Gly)
|
rs201045092
|
0.00020
|
|
NM_020937.4(FANCM):c.2267G>A (p.Arg756His)
|
rs142763060
|
0.00020
|
|
NM_020937.4(FANCM):c.5205G>A (p.Ser1735=)
|
rs138090463
|
0.00020
|
|
NM_021922.3(FANCE):c.246G>A (p.Glu82=)
|
rs769779495
|
0.00020
|
|
NM_032444.4(SLX4):c.465A>G (p.Glu155=)
|
rs138512851
|
0.00020
|
|
NM_000079.4(CHRNA1):c.1067A>C (p.Lys356Thr)
|
rs146863119
|
0.00019
|
|
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)
|
rs147672303
|
0.00019
|
|
NM_000135.4(FANCA):c.3912A>G (p.Ala1304=)
|
rs545021222
|
0.00019
|
|
NM_000136.3(FANCC):c.-79+7G>T
|
rs551170090
|
0.00019
|
|
NM_000751.3(CHRND):c.728G>A (p.Arg243His)
|
rs148869069
|
0.00019
|
|
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)
|
rs200303151
|
0.00019
|
|
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)
|
rs138026584
|
0.00019
|
|
NM_001271938.2(MEGF8):c.5492C>T (p.Ser1831Leu)
|
rs139959427
|
0.00019
|
|
NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys)
|
rs368008171
|
0.00019
|
|
NM_001374353.1(GLI2):c.2855C>G (p.Ala952Gly)
|
rs1260890491
|
0.00019
|
|
NM_001374353.1(GLI2):c.637G>A (p.Val213Met)
|
rs202139687
|
0.00019
|
|
NM_001999.4(FBN2):c.27C>G (p.Leu9=)
|
rs369714882
|
0.00019
|
|
NM_003289.4(TPM2):c.374+15C>T
|
rs773380766
|
0.00019
|
|
NM_003334.4(UBA1):c.2733G>A (p.Lys911=)
|
rs149284493
|
0.00019
|
|
NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr)
|
rs202225861
|
0.00019
|
|
NM_004380.3(CREBBP):c.5991C>T (p.Pro1997=)
|
rs201101808
|
0.00019
|
|
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn)
|
rs200154055
|
0.00019
|
|
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=)
|
rs757215612
|
0.00019
|
|
NM_005445.4(SMC3):c.2796A>G (p.Leu932=)
|
rs199966664
|
0.00019
|
|
NM_013352.4(DSE):c.450G>A (p.Pro150=)
|
rs773416085
|
0.00019
|
|
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=)
|
rs367591933
|
0.00019
|
|
NM_017617.5(NOTCH1):c.2353+13C>T
|
rs200756000
|
0.00019
|
|
NM_017617.5(NOTCH1):c.383G>A (p.Arg128His)
|
rs754086897
|
0.00019
|
|
NM_017617.5(NOTCH1):c.5384+14G>A
|
rs755122664
|
0.00019
|
|
NM_017617.5(NOTCH1):c.6082+10C>T
|
rs114120958
|
0.00019
|
|
NM_017617.5(NOTCH1):c.6733G>A (p.Gly2245Arg)
|
rs201613894
|
0.00019
|
|
NM_021922.3(FANCE):c.1114-4G>A
|
rs368422520
|
0.00019
|
|
NM_022725.4(FANCF):c.21C>T (p.His7=)
|
rs199867555
|
0.00019
|
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00019
|
|
NM_032043.3(BRIP1):c.628C>T (p.Pro210Ser)
|
rs150313156
|
0.00019
|
|
NM_032444.4(SLX4):c.1389A>G (p.Lys463=)
|
rs376668879
|
0.00019
|
|
NM_032444.4(SLX4):c.3583_3585del (p.Ile1195del)
|
rs199897550
|
0.00019
|
|
NM_133433.4(NIPBL):c.1992C>T (p.Asn664=)
|
rs116049172
|
0.00019
|
|
NM_147127.5(EVC2):c.2958C>T (p.Thr986=)
|
rs567792423
|
0.00019
|
|
NM_153717.3(EVC):c.617+17A>G
|
rs113726930
|
0.00019
|
|
NM_173660.5(DOK7):c.1007C>T (p.Ser336Leu)
|
rs377757018
|
0.00019
|
|
NM_173660.5(DOK7):c.1320C>T (p.Ala440=)
|
rs368868378
|
0.00019
|
|
NM_001018115.3(FANCD2):c.2142G>A (p.Pro714=)
|
rs372215382
|
0.00018
|
|
NM_001346754.2(PIGW):c.1080T>C (p.Asn360=)
|
rs138980777
|
0.00018
|
|
NM_001429.4(EP300):c.7177C>G (p.Leu2393Val)
|
rs377508897
|
0.00018
|
|
NM_002334.4(LRP4):c.1654A>T (p.Asn552Tyr)
|
rs201253200
|
0.00018
|
|
NM_002334.4(LRP4):c.3753G>A (p.Pro1251=)
|
rs140010759
|
0.00018
|
|
NM_002968.3(SALL1):c.2752G>A (p.Ala918Thr)
|
rs144782810
|
0.00018
|
|
NM_004629.2(FANCG):c.1144-17T>G
|
rs367794913
|
0.00018
|
|
NM_005105.5(RBM8A):c.342+19T>C
|
rs200836721
|
0.00018
|
|
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)
|
rs143347563
|
0.00018
|
|
NM_005236.3(ERCC4):c.2018-18C>G
|
rs539818239
|
0.00018
|
|
NM_005445.4(SMC3):c.837A>G (p.Thr279=)
|
rs151335692
|
0.00018
|
|
NM_017617.5(NOTCH1):c.2218G>A (p.Asp740Asn)
|
rs200816814
|
0.00018
|
|
NM_017617.5(NOTCH1):c.3644-5C>T
|
rs371070297
|
0.00018
|
|
NM_020436.5(SALL4):c.3096T>C (p.Ala1032=)
|
rs370319434
|
0.00018
|
|
NM_032444.4(SLX4):c.2079C>T (p.Val693=)
|
rs150206155
|
0.00018
|
|
NM_032444.4(SLX4):c.4545C>T (p.Asp1515=)
|
rs142851654
|
0.00018
|
|
NM_130468.4(CHST14):c.471G>A (p.Val157=)
|
rs200761477
|
0.00018
|
|
NM_173660.5(DOK7):c.54+31G>T
|
rs762404326
|
0.00018
|
|
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)
|
rs146975341
|
0.00017
|
|
NM_000135.4(FANCA):c.874C>G (p.His292Asp)
|
rs200220791
|
0.00017
|
|
NM_001271938.2(MEGF8):c.5937G>A (p.Arg1979=)
|
rs200310970
|
0.00017
|
|
NM_001374353.1(GLI2):c.132G>A (p.Ala44=)
|
rs145778937
|
0.00017
|
|
NM_001999.4(FBN2):c.1466-4G>A
|
rs371636769
|
0.00017
|
|
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)
|
rs150672907
|
0.00017
|
|
NM_002334.4(LRP4):c.1310-9G>C
|
rs200509094
|
0.00017
|
|
NM_004380.3(CREBBP):c.6165C>T (p.Ser2055=)
|
rs368704484
|
0.00017
|
|
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser)
|
rs139169188
|
0.00017
|
|
NM_006265.3(RAD21):c.1503T>G (p.Pro501=)
|
rs150935041
|
0.00017
|
|
NM_013352.4(DSE):c.2727T>C (p.Ile909=)
|
rs199742443
|
0.00017
|
|
NM_017617.5(NOTCH1):c.1903+14C>T
|
rs370541870
|
0.00017
|
|
NM_017617.5(NOTCH1):c.2427C>T (p.Asp809=)
|
rs775162462
|
0.00017
|
|
NM_017617.5(NOTCH1):c.454G>A (p.Gly152Ser)
|
rs750242131
|
0.00017
|
|
NM_032444.4(SLX4):c.1809G>A (p.Ser603=)
|
rs565202250
|
0.00017
|
|
NM_032444.4(SLX4):c.316C>T (p.Pro106Ser)
|
rs534494633
|
0.00017
|
|
NM_032444.4(SLX4):c.5433C>T (p.Ala1811=)
|
rs142477564
|
0.00017
|
|
NM_058216.3(RAD51C):c.258A>T (p.Thr86=)
|
rs149228565
|
0.00017
|
|
NM_133433.4(NIPBL):c.3665-10G>A
|
rs200744764
|
0.00017
|
|
NM_000079.4(CHRNA1):c.945C>T (p.Val315=)
|
rs371524795
|
0.00016
|
|
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)
|
rs151089298
|
0.00016
|
|
NM_000135.4(FANCA):c.1226-13G>C
|
rs377159744
|
0.00016
|
|
NM_000135.4(FANCA):c.2504+6C>G
|
rs749556479
|
0.00016
|
|
NM_000135.4(FANCA):c.3409-9C>G
|
rs368943794
|
0.00016
|
|
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)
|
rs144560850
|
0.00016
|
|
NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=)
|
rs370078641
|
0.00016
|
|
NM_001113378.2(FANCI):c.1939T>C (p.Leu647=)
|
rs150231327
|
0.00016
|
|
NM_001113378.2(FANCI):c.882+15G>T
|
rs199522855
|
0.00016
|
|
NM_001271938.2(MEGF8):c.5559G>A (p.Leu1853=)
|
rs36016565
|
0.00016
|
|
NM_001374353.1(GLI2):c.189G>A (p.Pro63=)
|
rs200471311
|
0.00016
|
|
NM_001429.4(EP300):c.2765C>T (p.Ala922Val)
|
rs150389014
|
0.00016
|
|
NM_001429.4(EP300):c.4026G>A (p.Arg1342=)
|
rs146119145
|
0.00016
|
|
NM_001429.4(EP300):c.4752A>G (p.Leu1584=)
|
rs146147293
|
0.00016
|
|
NM_001429.4(EP300):c.513G>A (p.Ala171=)
|
rs146041458
|
0.00016
|
|
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro)
|
rs140187237
|
0.00016
|
|
NM_001429.4(EP300):c.6684G>A (p.Gln2228=)
|
rs148504625
|
0.00016
|
|
NM_001429.4(EP300):c.7161T>C (p.Gly2387=)
|
rs143148170
|
0.00016
|
|
NM_001999.4(FBN2):c.3235G>T (p.Ala1079Ser)
|
rs774996980
|
0.00016
|
|
NM_002968.3(SALL1):c.3759C>T (p.Ser1253=)
|
rs138153478
|
0.00016
|
|
NM_003289.4(TPM2):c.633G>A (p.Ala211=)
|
rs199758432
|
0.00016
|
|
NM_003289.4(TPM2):c.846C>A (p.Thr282=)
|
rs148516241
|
0.00016
|
|
NM_003334.4(UBA1):c.346-10A>C
|
rs782089237
|
0.00016
|
|
NM_005055.5(RAPSN):c.1041G>A (p.Ala347=)
|
rs149683345
|
0.00016
|
|
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=)
|
rs2020960
|
0.00016
|
|
NM_013352.4(DSE):c.1221T>A (p.Pro407=)
|
rs140103226
|
0.00016
|
|
NM_016277.5(RAB23):c.552G>A (p.Thr184=)
|
rs201731610
|
0.00016
|
|
NM_017617.5(NOTCH1):c.2148G>A (p.Glu716=)
|
rs376468003
|
0.00016
|
|
NM_017617.5(NOTCH1):c.2718C>T (p.Thr906=)
|
rs200243788
|
0.00016
|
|
NM_017617.5(NOTCH1):c.3011C>T (p.Ser1004Leu)
|
rs201163739
|
0.00016
|
|
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=)
|
rs374944458
|
0.00016
|
|
NM_017617.5(NOTCH1):c.4866C>T (p.Arg1622=)
|
rs772314400
|
0.00016
|
|
NM_018062.4(FANCL):c.387G>A (p.Ala129=)
|
rs141400460
|
0.00016
|
|
NM_018062.4(FANCL):c.97-11A>G
|
rs201875132
|
0.00016
|
|
NM_020937.4(FANCM):c.4709G>A (p.Arg1570His)
|
rs201803784
|
0.00016
|
|
NM_022725.4(FANCF):c.837A>G (p.Thr279=)
|
rs183269887
|
0.00016
|
|
NM_032043.3(BRIP1):c.1872G>A (p.Ser624=)
|
rs145504336
|
0.00016
|
|
NM_032634.4(PIGO):c.656-8C>T
|
rs187058369
|
0.00016
|
|
NM_058216.3(RAD51C):c.744T>C (p.Phe248=)
|
rs150142859
|
0.00016
|
|
NM_133433.4(NIPBL):c.2673C>T (p.Asp891=)
|
rs376637245
|
0.00016
|
|
NM_133433.4(NIPBL):c.2903A>G (p.Asn968Ser)
|
rs180747605
|
0.00016
|
|
NM_147127.5(EVC2):c.588G>A (p.Ser196=)
|
rs566778000
|
0.00016
|
|
NM_147127.5(EVC2):c.615G>A (p.Leu205=)
|
rs140864640
|
0.00016
|
|
NM_147127.5(EVC2):c.984A>T (p.Gly328=)
|
rs1023236102
|
0.00016
|
|
NM_153717.3(EVC):c.1536C>T (p.Ala512=)
|
rs368554773
|
0.00016
|
|
NM_153717.3(EVC):c.702+16C>T
|
rs180960931
|
0.00016
|
|
NM_173660.5(DOK7):c.1352G>A (p.Arg451Gln)
|
rs200675356
|
0.00016
|
|
NM_173660.5(DOK7):c.772+14C>G
|
rs201023802
|
0.00016
|
|
NM_173660.5(DOK7):c.957C>G (p.Pro319=)
|
rs777573281
|
0.00016
|
|
NM_000135.4(FANCA):c.1413C>T (p.Val471=)
|
rs201561753
|
0.00015
|
|
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)
|
rs149775657
|
0.00015
|
|
NM_001018115.3(FANCD2):c.888+9T>C
|
rs777620616
|
0.00015
|
|
NM_001113378.2(FANCI):c.446-6T>G
|
rs377255054
|
0.00015
|
|
NM_001271938.2(MEGF8):c.2987+11del
|
rs755747202
|
0.00015
|
|
NM_001271938.2(MEGF8):c.4434C>T (p.Pro1478=)
|
rs371090576
|
0.00015
|
|
NM_001374353.1(GLI2):c.845+10G>A
|
rs199673018
|
0.00015
|
|
NM_001429.4(EP300):c.5604G>A (p.Thr1868=)
|
rs200795114
|
0.00015
|
|
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala)
|
rs200189212
|
0.00015
|
|
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=)
|
rs375141964
|
0.00015
|
|
NM_002334.4(LRP4):c.3429G>A (p.Thr1143=)
|
rs137882536
|
0.00015
|
|
NM_002334.4(LRP4):c.636C>T (p.Gly212=)
|
rs17848239
|
0.00015
|
|
NM_003289.4(TPM2):c.18G>A (p.Lys6=)
|
rs144658309
|
0.00015
|
|
NM_004380.3(CREBBP):c.5874G>C (p.Ala1958=)
|
rs373950003
|
0.00015
|
|
NM_005592.4(MUSK):c.2484C>T (p.Pro828=)
|
rs779401827
|
0.00015
|
|
NM_006306.4(SMC1A):c.1098G>A (p.Thr366=)
|
rs140585416
|
0.00015
|
|
NM_013352.4(DSE):c.910+20G>A
|
rs376761852
|
0.00015
|
|
NM_017617.5(NOTCH1):c.2353+14G>A
|
rs140288481
|
0.00015
|
|
NM_017617.5(NOTCH1):c.4988G>A (p.Arg1663Gln)
|
rs749490844
|
0.00015
|
|
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=)
|
rs370684825
|
0.00015
|
|
NM_017617.5(NOTCH1):c.6180+9G>A
|
rs200371378
|
0.00015
|
|
NM_023110.3(FGFR1):c.1082-13C>T
|
rs185831613
|
0.00015
|
|
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val)
|
rs745421287
|
0.00015
|
|
NM_032444.4(SLX4):c.5403G>C (p.Leu1801=)
|
rs577770118
|
0.00015
|
|
NM_147127.5(EVC2):c.3174G>A (p.Leu1058=)
|
rs555652075
|
0.00015
|
|
NM_153717.3(EVC):c.105C>A (p.Gly35=)
|
rs745558003
|
0.00015
|
|
NM_000079.4(CHRNA1):c.324A>C (p.Pro108=)
|
rs199555685
|
0.00014
|
|
NM_000135.4(FANCA):c.3240-11C>G
|
rs138826926
|
0.00014
|
|
NM_000751.3(CHRND):c.1367A>G (p.Asn456Ser)
|
rs144433265
|
0.00014
|
|
NM_000751.3(CHRND):c.711C>T (p.Thr237=)
|
rs752356816
|
0.00014
|
|
NM_001018115.3(FANCD2):c.2418T>G (p.Pro806=)
|
rs61751577
|
0.00014
|
|
NM_001018115.3(FANCD2):c.571-19A>T
|
rs141566218
|
0.00014
|
|
NM_001113378.2(FANCI):c.882+10A>G
|
rs370227185
|
0.00014
|
|
NM_001271938.2(MEGF8):c.2537C>T (p.Ser846Leu)
|
rs148207079
|
0.00014
|
|
NM_001271938.2(MEGF8):c.4752G>C (p.Leu1584=)
|
rs541175277
|
0.00014
|
|
NM_001271938.2(MEGF8):c.5343+9T>G
|
rs374168560
|
0.00014
|
|
NM_001278689.2(EOGT):c.591A>G (p.Glu197=)
|
rs576952007
|
0.00014
|
|
NM_001374353.1(GLI2):c.9G>A (p.Thr3=)
|
rs199524680
|
0.00014
|
|
NM_001429.4(EP300):c.5361C>T (p.Ala1787=)
|
rs200552141
|
0.00014
|
|
NM_001999.4(FBN2):c.2536G>A (p.Glu846Lys)
|
rs375666281
|
0.00014
|
|
NM_001999.4(FBN2):c.2801G>A (p.Arg934Gln)
|
rs376194507
|
0.00014
|
|
NM_001999.4(FBN2):c.4642G>A (p.Val1548Ile)
|
rs140313460
|
0.00014
|
|
NM_001999.4(FBN2):c.68C>G (p.Ala23Gly)
|
rs199560824
|
0.00014
|
|
NM_001999.4(FBN2):c.7841-17C>T
|
rs371643668
|
0.00014
|
|
NM_002334.4(LRP4):c.4584-4G>A
|
rs368518969
|
0.00014
|
|
NM_002334.4(LRP4):c.4584-5C>T
|
rs183295145
|
0.00014
|
|
NM_004380.3(CREBBP):c.3841G>A (p.Val1281Ile)
|
rs201874248
|
0.00014
|
|
NM_004629.2(FANCG):c.399G>A (p.Pro133=)
|
rs200278002
|
0.00014
|
|
NM_005055.5(RAPSN):c.225G>A (p.Glu75=)
|
rs147923114
|
0.00014
|
|
NM_005236.3(ERCC4):c.2517C>T (p.Pro839=)
|
rs200715555
|
0.00014
|
|
NM_005236.3(ERCC4):c.471A>G (p.Lys157=)
|
rs3136092
|
0.00014
|
|
NM_005592.4(MUSK):c.1885C>T (p.Leu629Phe)
|
rs34267283
|
0.00014
|
|
NM_005592.4(MUSK):c.206+10C>T
|
rs371617202
|
0.00014
|
|
NM_005592.4(MUSK):c.776A>G (p.Glu259Gly)
|
rs370071178
|
0.00014
|
|
NM_012243.3(SLC35A3):c.187+13G>A
|
rs373777045
|
0.00014
|
|
NM_013352.4(DSE):c.240C>T (p.Ser80=)
|
rs143347973
|
0.00014
|
|
NM_014918.5(CHSY1):c.798G>A (p.Gln266=)
|
rs149739984
|
0.00014
|
|
NM_017617.5(NOTCH1):c.1670-19C>T
|
rs377686947
|
0.00014
|
|
NM_017617.5(NOTCH1):c.1914C>T (p.Cys638=)
|
rs373068883
|
0.00014
|
|
NM_017617.5(NOTCH1):c.2085C>T (p.Asp695=)
|
rs200573958
|
0.00014
|
|
NM_017617.5(NOTCH1):c.2354-5T>C
|
rs371944522
|
0.00014
|
|
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=)
|
rs150666307
|
0.00014
|
|
NM_017617.5(NOTCH1):c.45C>G (p.Pro15=)
|
rs764936481
|
0.00014
|
|
NM_017617.5(NOTCH1):c.4905C>T (p.Ala1635=)
|
rs751446074
|
0.00014
|
|
NM_017617.5(NOTCH1):c.631A>G (p.Thr211Ala)
|
rs376902925
|
0.00014
|
|
NM_017617.5(NOTCH1):c.6376G>A (p.Gly2126Arg)
|
rs572960572
|
0.00014
|
|
NM_017617.5(NOTCH1):c.6509G>A (p.Ser2170Asn)
|
rs200254239
|
0.00014
|
|
NM_018062.4(FANCL):c.1021-6T>C
|
rs377052216
|
0.00014
|
|
NM_020937.4(FANCM):c.5341-19G>A
|
rs375732305
|
0.00014
|
|
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=)
|
rs375796487
|
0.00014
|
|
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=)
|
rs376173540
|
0.00014
|
|
NM_032043.3(BRIP1):c.595C>T (p.Leu199=)
|
rs144969738
|
0.00014
|
|
NM_032634.4(PIGO):c.939+12G>C
|
rs370844887
|
0.00014
|
|
NM_130468.4(CHST14):c.765C>T (p.Gly255=)
|
rs148053059
|
0.00014
|
|
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=)
|
rs200440893
|
0.00014
|
|
NM_133433.4(NIPBL):c.2448T>C (p.Arg816=)
|
rs139177541
|
0.00014
|
|
NM_147127.5(EVC2):c.3483G>A (p.Ser1161=)
|
rs374038474
|
0.00014
|
|
NM_153717.3(EVC):c.1818A>C (p.Thr606=)
|
rs202093497
|
0.00014
|
|
NM_153717.3(EVC):c.2098-10T>C
|
rs774109576
|
0.00014
|
|
NM_153717.3(EVC):c.702+17G>T
|
rs559719173
|
0.00014
|
|
NM_173660.5(DOK7):c.1233T>C (p.Leu411=)
|
rs539706052
|
0.00014
|
|
NM_000079.4(CHRNA1):c.1184C>T (p.Ala395Val)
|
rs768878508
|
0.00013
|
|
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
|
NM_000751.3(CHRND):c.1480T>C (p.Tyr494His)
|
rs368695808
|
0.00013
|
|
NM_001018115.3(FANCD2):c.1614A>C (p.Thr538=)
|
rs141824395
|
0.00013
|
|
NM_001018115.3(FANCD2):c.206-20C>A
|
rs200170760
|
0.00013
|
|
NM_001113378.2(FANCI):c.2406T>C (p.Asp802=)
|
rs147934193
|
0.00013
|
|
NM_001271938.2(MEGF8):c.1933+10C>T
|
rs763206386
|
0.00013
|
|
NM_001271938.2(MEGF8):c.3310C>T (p.Arg1104Trp)
|
rs370522595
|
0.00013
|
|
NM_001271938.2(MEGF8):c.351+10G>A
|
rs374212597
|
0.00013
|
|
NM_001346754.2(PIGW):c.909C>T (p.Arg303=)
|
rs199843214
|
0.00013
|
|
NM_001374353.1(GLI2):c.1497C>A (p.Arg499=)
|
rs542656225
|
0.00013
|
|
NM_001374353.1(GLI2):c.4014A>G (p.Gln1338=)
|
rs374113689
|
0.00013
|
|
NM_001374353.1(GLI2):c.4293C>T (p.Tyr1431=)
|
rs374166743
|
0.00013
|
|
NM_001374353.1(GLI2):c.563C>T (p.Ala188Val)
|
rs147419287
|
0.00013
|
|
NM_001429.4(EP300):c.1539T>C (p.Pro513=)
|
rs377140865
|
0.00013
|
|
NM_001429.4(EP300):c.2242-14T>G
|
rs760859922
|
0.00013
|
|
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala)
|
rs147610681
|
0.00013
|
|
NM_001999.4(FBN2):c.4902C>T (p.Pro1634=)
|
rs201071253
|
0.00013
|
|
NM_004380.3(CREBBP):c.3089C>T (p.Ser1030Phe)
|
rs757051244
|
0.00013
|
|
NM_004380.3(CREBBP):c.4280+8T>C
|
rs376814421
|
0.00013
|
|
NM_004380.3(CREBBP):c.6656C>T (p.Ala2219Val)
|
rs150461438
|
0.00013
|
|
NM_005592.4(MUSK):c.1806T>G (p.Pro602=)
|
rs374078491
|
0.00013
|
|
NM_017617.5(NOTCH1):c.1699A>G (p.Ile567Val)
|
rs369067940
|
0.00013
|
|
NM_020937.4(FANCM):c.3432C>T (p.Phe1144=)
|
rs374047969
|
0.00013
|
|
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)
|
rs375195621
|
0.00013
|
|
NM_021922.3(FANCE):c.903G>C (p.Gly301=)
|
rs781287698
|
0.00013
|
|
NM_023110.3(FGFR1):c.241A>G (p.Ile81Val)
|
rs201574031
|
0.00013
|
|
NM_032634.4(PIGO):c.3070-12C>G
|
rs199864376
|
0.00013
|
|
NM_133433.4(NIPBL):c.1321A>G (p.Thr441Ala)
|
rs144853101
|
0.00013
|
|
NM_133433.4(NIPBL):c.6645A>G (p.Leu2215=)
|
rs149186951
|
0.00013
|
|
NM_147127.5(EVC2):c.284-17G>A
|
rs201654752
|
0.00013
|
|
NM_153717.3(EVC):c.175-10C>T
|
rs113406354
|
0.00013
|
|
NM_000135.4(FANCA):c.1640C>T (p.Ala547Val)
|
rs550821697
|
0.00012
|
|
NM_000135.4(FANCA):c.1776+11G>A
|
rs377308050
|
0.00012
|
|
NM_001018115.3(FANCD2):c.378-4A>G
|
rs75087355
|
0.00012
|
|
NM_001113378.2(FANCI):c.2646A>G (p.Leu882=)
|
rs199627578
|
0.00012
|
|
NM_001271938.2(MEGF8):c.7047C>T (p.Ala2349=)
|
rs369359832
|
0.00012
|
|
NM_001374353.1(GLI2):c.2886G>A (p.Leu962=)
|
rs777165274
|
0.00012
|
|
NM_001429.4(EP300):c.2645C>G (p.Pro882Arg)
|
rs772707021
|
0.00012
|
|
NM_001429.4(EP300):c.2787A>G (p.Ala929=)
|
rs143690368
|
0.00012
|
|
NM_001429.4(EP300):c.448T>C (p.Ser150Pro)
|
rs138241570
|
0.00012
|
|
NM_001999.4(FBN2):c.2469C>T (p.Asn823=)
|
rs770997817
|
0.00012
|
|
NM_001999.4(FBN2):c.2625T>C (p.Cys875=)
|
rs371502563
|
0.00012
|
|
NM_001999.4(FBN2):c.2990-14C>T
|
rs377500777
|
0.00012
|
|
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)
|
rs139668142
|
0.00012
|
|
NM_001999.4(FBN2):c.6334A>G (p.Lys2112Glu)
|
rs141707850
|
0.00012
|
|
NM_001999.4(FBN2):c.8192+8G>A
|
rs184132548
|
0.00012
|
|
NM_002334.4(LRP4):c.2436T>C (p.Asp812=)
|
rs201159730
|
0.00012
|
|
NM_002334.4(LRP4):c.447C>T (p.Ser149=)
|
rs763246909
|
0.00012
|
|
NM_003334.4(UBA1):c.753A>G (p.Ser251=)
|
rs141505579
|
0.00012
|
|
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=)
|
rs141775567
|
0.00012
|
|
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)
|
rs201652412
|
0.00012
|
|
NM_017617.5(NOTCH1):c.1099+20G>A
|
rs376139196
|
0.00012
|
|
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=)
|
rs368665838
|
0.00012
|
|
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=)
|
rs200332386
|
0.00012
|
|
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=)
|
rs374100421
|
0.00012
|
|
NM_017617.5(NOTCH1):c.5015G>A (p.Arg1672His)
|
rs372830543
|
0.00012
|
|
NM_017617.5(NOTCH1):c.5472+9C>T
|
rs200788026
|
0.00012
|
|
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=)
|
rs763584589
|
0.00012
|
|
NM_017617.5(NOTCH1):c.6568C>T (p.Leu2190=)
|
rs1037034230
|
0.00012
|
|
NM_023110.3(FGFR1):c.2186+8C>T
|
rs372639138
|
0.00012
|
|
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=)
|
rs61754142
|
0.00012
|
|
NM_147127.5(EVC2):c.450+17A>G
|
rs370958428
|
0.00012
|
|
NM_153717.3(EVC):c.2583G>A (p.Arg861=)
|
rs145317746
|
0.00012
|
|
NM_000079.4(CHRNA1):c.1002+9G>A
|
rs368959759
|
0.00011
|
|
NM_000079.4(CHRNA1):c.189+18G>A
|
rs201082834
|
0.00011
|
|
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=)
|
rs141733086
|
0.00011
|
|
NM_000135.4(FANCA):c.105T>C (p.Tyr35=)
|
rs747928827
|
0.00011
|
|
NM_000135.4(FANCA):c.1471-20G>A
|
rs374579239
|
0.00011
|
|
NM_000135.4(FANCA):c.1536A>C (p.Ser512=)
|
rs766580461
|
0.00011
|
|
NM_000135.4(FANCA):c.2029G>A (p.Val677Met)
|
rs767396631
|
0.00011
|
|
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)
|
rs139289675
|
0.00011
|
|
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)
|
rs376103033
|
0.00011
|
|
NM_000135.4(FANCA):c.3168C>T (p.Leu1056=)
|
rs377633991
|
0.00011
|
|
NM_000135.4(FANCA):c.709+20C>T
|
rs368328886
|
0.00011
|
|
NM_000136.3(FANCC):c.1290C>T (p.Tyr430=)
|
rs766105286
|
0.00011
|
|
NM_000136.3(FANCC):c.1509G>A (p.Thr503=)
|
rs144278080
|
0.00011
|
|
NM_000136.3(FANCC):c.1534-9T>C
|
rs536836859
|
0.00011
|
|
NM_000136.3(FANCC):c.250+16G>A
|
rs371993188
|
0.00011
|
|
NM_000136.3(FANCC):c.522-4A>G
|
rs371422485
|
0.00011
|
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
|
NM_000751.3(CHRND):c.620-7C>T
|
rs532055784
|
0.00011
|
|
NM_001018115.3(FANCD2):c.4281+81G>A
|
rs145889419
|
0.00011
|
|
NM_001113378.2(FANCI):c.3114G>A (p.Ser1038=)
|
rs567952571
|
0.00011
|
|
NM_001271938.2(MEGF8):c.3798C>T (p.Arg1266=)
|
rs750232469
|
0.00011
|
|
NM_001271938.2(MEGF8):c.4662G>A (p.Ala1554=)
|
rs759312023
|
0.00011
|
|
NM_001278689.2(EOGT):c.300C>T (p.Val100=)
|
rs371677485
|
0.00011
|
|
NM_001374353.1(GLI2):c.1587C>T (p.Asn529=)
|
rs767400136
|
0.00011
|
|
NM_001374353.1(GLI2):c.2458G>A (p.Glu820Lys)
|
rs193090538
|
0.00011
|
|
NM_001429.4(EP300):c.157T>C (p.Leu53=)
|
rs147566983
|
0.00011
|
|
NM_001429.4(EP300):c.2352G>A (p.Pro784=)
|
rs140684440
|
0.00011
|
|
NM_001999.4(FBN2):c.2108G>A (p.Arg703His)
|
rs567790419
|
0.00011
|
|
NM_001999.4(FBN2):c.2989+20G>A
|
rs374450061
|
0.00011
|
|
NM_001999.4(FBN2):c.4311C>T (p.Ser1437=)
|
rs138665246
|
0.00011
|
|
NM_002334.4(LRP4):c.2763C>T (p.Asp921=)
|
rs532977473
|
0.00011
|
|
NM_002334.4(LRP4):c.5178C>T (p.Tyr1726=)
|
rs372105627
|
0.00011
|
|
NM_002968.3(SALL1):c.3964G>A (p.Val1322Ile)
|
rs199701845
|
0.00011
|
|
NM_005236.3(ERCC4):c.389-9C>A
|
rs369626998
|
0.00011
|
|
NM_005445.4(SMC3):c.1416G>A (p.Leu472=)
|
rs753327472
|
0.00011
|
|
NM_005445.4(SMC3):c.2782C>A (p.Arg928=)
|
rs202034783
|
0.00011
|
|
NM_005592.4(MUSK):c.198T>C (p.Ile66=)
|
rs567402281
|
0.00011
|
|
NM_006265.3(RAD21):c.159A>G (p.Leu53=)
|
rs186566723
|
0.00011
|
|
NM_013352.4(DSE):c.1383T>A (p.Ala461=)
|
rs200485959
|
0.00011
|
|
NM_013352.4(DSE):c.516A>G (p.Thr172=)
|
rs200780195
|
0.00011
|
|
NM_013352.4(DSE):c.645G>A (p.Thr215=)
|
rs370613241
|
0.00011
|
|
NM_014918.5(CHSY1):c.843C>T (p.Tyr281=)
|
rs181121069
|
0.00011
|
|
NM_017617.5(NOTCH1):c.1116C>G (p.Leu372=)
|
rs372623058
|
0.00011
|
|
NM_017617.5(NOTCH1):c.2863C>T (p.Arg955Cys)
|
rs370797169
|
0.00011
|
|
NM_017617.5(NOTCH1):c.4015-10T>C
|
rs989085577
|
0.00011
|
|
NM_017617.5(NOTCH1):c.5273G>A (p.Arg1758His)
|
rs373841359
|
0.00011
|
|
NM_017617.5(NOTCH1):c.5301C>T (p.Leu1767=)
|
rs372154581
|
0.00011
|
|
NM_017617.5(NOTCH1):c.6057C>T (p.Ala2019=)
|
rs758702512
|
0.00011
|
|
NM_017617.5(NOTCH1):c.6938G>A (p.Arg2313Gln)
|
rs371069660
|
0.00011
|
|
NM_017617.5(NOTCH1):c.7400C>T (p.Ser2467Leu)
|
rs375025242
|
0.00011
|
|
NM_018062.4(FANCL):c.1020+15T>C
|
rs201733792
|
0.00011
|
|
NM_020436.5(SALL4):c.1020C>T (p.Gly340=)
|
rs142790611
|
0.00011
|
|
NM_020937.4(FANCM):c.1812C>T (p.Asn604=)
|
rs377473850
|
0.00011
|
|
NM_020937.4(FANCM):c.5901T>C (p.Ser1967=)
|
rs375558533
|
0.00011
|
|
NM_020937.4(FANCM):c.954G>A (p.Arg318=)
|
rs763895177
|
0.00011
|
|
NM_022725.4(FANCF):c.1054T>C (p.Leu352=)
|
rs61752917
|
0.00011
|
|
NM_023110.3(FGFR1):c.394G>A (p.Asp132Asn)
|
rs562958780
|
0.00011
|
|
NM_023110.3(FGFR1):c.92-13G>A
|
rs373032952
|
0.00011
|
|
NM_032043.3(BRIP1):c.1089C>T (p.Asp363=)
|
rs139701369
|
0.00011
|
|
NM_032043.3(BRIP1):c.249A>G (p.Gln83=)
|
rs45528833
|
0.00011
|
|
NM_032444.4(SLX4):c.2160+8C>T
|
rs374004875
|
0.00011
|
|
NM_032444.4(SLX4):c.2241C>T (p.Ala747=)
|
rs143790956
|
0.00011
|
|
NM_032444.4(SLX4):c.2958C>G (p.Leu986=)
|
rs148111699
|
0.00011
|
|
NM_032444.4(SLX4):c.921C>T (p.Asn307=)
|
rs370468973
|
0.00011
|
|
NM_032634.4(PIGO):c.2025G>A (p.Ala675=)
|
rs368209276
|
0.00011
|
|
NM_032634.4(PIGO):c.675C>T (p.Asp225=)
|
rs200656082
|
0.00011
|
|
NM_133433.4(NIPBL):c.2352A>G (p.Gln784=)
|
rs61755038
|
0.00011
|
|
NM_133433.4(NIPBL):c.6390C>T (p.Asn2130=)
|
rs141545751
|
0.00011
|
|
NM_147127.5(EVC2):c.3858C>T (p.His1286=)
|
rs368103321
|
0.00011
|
|
NM_153717.3(EVC):c.1707G>C (p.Leu569=)
|
rs575586341
|
0.00011
|
|
NM_153717.3(EVC):c.540G>A (p.Ser180=)
|
rs200120462
|
0.00011
|
|
NM_153717.3(EVC):c.690G>A (p.Gln230=)
|
rs563481672
|
0.00011
|
|
NM_153717.3(EVC):c.77C>T (p.Ala26Val)
|
rs1035520087
|
0.00011
|
|
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)
|
rs199916502
|
0.00011
|
|
NM_173660.5(DOK7):c.1406C>A (p.Pro469His)
|
rs147185207
|
0.00011
|
|
NM_173660.5(DOK7):c.1434C>T (p.Gly478=)
|
rs781007084
|
0.00011
|
|
NM_173660.5(DOK7):c.82A>C (p.Lys28Gln)
|
rs576215366
|
0.00011
|
|
NM_000079.4(CHRNA1):c.190-18C>T
|
rs769989280
|
0.00010
|
|
NM_000079.4(CHRNA1):c.546C>T (p.Ser182=)
|
rs749002411
|
0.00010
|
|
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)
|
rs747322973
|
0.00010
|
|
NM_000135.4(FANCA):c.1614G>A (p.Gly538=)
|
rs747421581
|
0.00010
|
|
NM_000135.4(FANCA):c.1755C>G (p.Pro585=)
|
rs144704750
|
0.00010
|
|
NM_000135.4(FANCA):c.3348+12G>A
|
rs374973869
|
0.00010
|
|
NM_000135.4(FANCA):c.342C>T (p.Ala114=)
|
rs777989691
|
0.00010
|
|
NM_000135.4(FANCA):c.3711C>G (p.Val1237=)
|
rs776879032
|
0.00010
|
|
NM_000135.4(FANCA):c.634A>C (p.Arg212=)
|
rs754839730
|
0.00010
|
|
NM_000135.4(FANCA):c.924C>T (p.Gly308=)
|
rs143255238
|
0.00010
|
|
NM_000751.3(CHRND):c.1048-7G>T
|
rs369026633
|
0.00010
|
|
NM_000751.3(CHRND):c.1125G>A (p.Val375=)
|
rs143246852
|
0.00010
|
|
NM_001018113.3(FANCB):c.801A>C (p.Ser267=)
|
rs773005941
|
0.00010
|
|
NM_001018115.3(FANCD2):c.165A>G (p.Ser55=)
|
rs543455922
|
0.00010
|
|
NM_001018115.3(FANCD2):c.2826G>A (p.Thr942=)
|
rs200118565
|
0.00010
|
|
NM_001113378.2(FANCI):c.2890-13C>T
|
rs377269890
|
0.00010
|
|
NM_001271938.2(MEGF8):c.6469G>A (p.Gly2157Ser)
|
rs549617171
|
0.00010
|
|
NM_001374353.1(GLI2):c.1760A>C (p.His587Pro)
|
rs756664261
|
0.00010
|
|
NM_001374353.1(GLI2):c.845+14G>A
|
rs370294059
|
0.00010
|
|
NM_001429.4(EP300):c.2668A>C (p.Thr890Pro)
|
rs577396026
|
0.00010
|
|
NM_001429.4(EP300):c.3143-7T>G
|
rs778277906
|
0.00010
|
|
NM_001429.4(EP300):c.5454G>C (p.Leu1818=)
|
rs148026063
|
0.00010
|
|
NM_001429.4(EP300):c.6311C>G (p.Pro2104Arg)
|
rs138584705
|
0.00010
|
|
NM_001429.4(EP300):c.7017C>T (p.His2339=)
|
rs759571982
|
0.00010
|
|
NM_001429.4(EP300):c.7167C>T (p.Ser2389=)
|
rs150845823
|
0.00010
|
|
NM_001999.4(FBN2):c.2249-15C>A
|
rs759195113
|
0.00010
|
|
NM_001999.4(FBN2):c.2717G>A (p.Arg906His)
|
rs370973542
|
0.00010
|
|
NM_001999.4(FBN2):c.3472+17C>A
|
rs747730357
|
0.00010
|
|
NM_001999.4(FBN2):c.6833C>T (p.Thr2278Met)
|
rs2307109
|
0.00010
|
|
NM_001999.4(FBN2):c.8193-6A>G
|
rs371741283
|
0.00010
|
|
NM_001999.4(FBN2):c.8691G>A (p.Gly2897=)
|
rs184109554
|
0.00010
|
|
NM_002334.4(LRP4):c.3267C>T (p.Asp1089=)
|
rs150616375
|
0.00010
|
|
NM_002334.4(LRP4):c.4110C>T (p.Asp1370=)
|
rs143496445
|
0.00010
|
|
NM_004629.2(FANCG):c.722C>T (p.Pro241Leu)
|
rs201438531
|
0.00010
|
|
NM_004629.2(FANCG):c.729T>C (p.Pro243=)
|
rs199736443
|
0.00010
|
|
NM_005055.5(RAPSN):c.1098C>T (p.Cys366=)
|
rs139525851
|
0.00010
|
|
NM_005055.5(RAPSN):c.640G>A (p.Val214Met)
|
rs201124957
|
0.00010
|
|
NM_005055.5(RAPSN):c.831C>T (p.Thr277=)
|
rs148078235
|
0.00010
|
|
NM_005055.5(RAPSN):c.864G>A (p.Ala288=)
|
rs147966227
|
0.00010
|
|
NM_005236.3(ERCC4):c.1102+13G>T
|
rs199772721
|
0.00010
|
|
NM_006147.4(IRF6):c.668-4G>T
|
rs376679285
|
0.00010
|
|
NM_006265.3(RAD21):c.645T>C (p.Tyr215=)
|
rs143910582
|
0.00010
|
|
NM_012243.3(SLC35A3):c.483G>A (p.Gln161=)
|
rs370315911
|
0.00010
|
|
NM_014918.5(CHSY1):c.489G>A (p.Lys163=)
|
rs146047900
|
0.00010
|
|
NM_016277.5(RAB23):c.675G>A (p.Lys225=)
|
rs781622209
|
0.00010
|
|
NM_017617.5(NOTCH1):c.1295C>T (p.Thr432Met)
|
rs200562991
|
0.00010
|
|
NM_017617.5(NOTCH1):c.153C>T (p.Ala51=)
|
rs748048002
|
0.00010
|
|
NM_017617.5(NOTCH1):c.1555+16G>A
|
rs368798926
|
0.00010
|
|
NM_017617.5(NOTCH1):c.1670-18G>A
|
rs375041394
|
0.00010
|
|
NM_017617.5(NOTCH1):c.1698C>T (p.Asp566=)
|
rs541992446
|
0.00010
|
|
NM_017617.5(NOTCH1):c.2740+14C>T
|
rs375880798
|
0.00010
|
|
NM_017617.5(NOTCH1):c.2969+14G>A
|
rs112192550
|
0.00010
|
|
NM_017617.5(NOTCH1):c.3771G>A (p.Pro1257=)
|
rs536479643
|
0.00010
|
|
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=)
|
rs61751559
|
0.00010
|
|
NM_017617.5(NOTCH1):c.4096G>A (p.Gly1366Ser)
|
rs778270588
|
0.00010
|
|
NM_017617.5(NOTCH1):c.4458C>G (p.Pro1486=)
|
rs747236263
|
0.00010
|
|
NM_017617.5(NOTCH1):c.5631C>T (p.Arg1877=)
|
rs35627681
|
0.00010
|
|
NM_017617.5(NOTCH1):c.6744C>T (p.Asn2248=)
|
rs372771288
|
0.00010
|
|
NM_017617.5(NOTCH1):c.695C>A (p.Thr232Asn)
|
rs869025493
|
0.00010
|
|
NM_018062.4(FANCL):c.846A>G (p.Gln282=)
|
rs535158133
|
0.00010
|
|
NM_020937.4(FANCM):c.2760G>A (p.Pro920=)
|
rs145506906
|
0.00010
|
|
NM_020937.4(FANCM):c.2889C>T (p.Phe963=)
|
rs544323144
|
0.00010
|
|
NM_022725.4(FANCF):c.350C>T (p.Pro117Leu)
|
rs374572943
|
0.00010
|
|
NM_023110.3(FGFR1):c.1409G>T (p.Arg470Leu)
|
rs121909637
|
0.00010
|
|
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=)
|
rs763571736
|
0.00010
|
|
NM_032444.4(SLX4):c.1563T>C (p.Pro521=)
|
rs146360238
|
0.00010
|
|
NM_032444.4(SLX4):c.1602C>T (p.Ser534=)
|
rs201754095
|
0.00010
|
|
NM_032444.4(SLX4):c.1911G>T (p.Ser637=)
|
rs200013924
|
0.00010
|
|
NM_032444.4(SLX4):c.3438C>T (p.Asn1146=)
|
rs78541095
|
0.00010
|
|
NM_032444.4(SLX4):c.73G>A (p.Gly25Arg)
|
rs201533738
|
0.00010
|
|
NM_130468.4(CHST14):c.58C>T (p.Arg20Trp)
|
rs577809616
|
0.00010
|
|
NM_133433.4(NIPBL):c.4776+12G>A
|
rs199632698
|
0.00010
|
|
NM_147127.5(EVC2):c.2340C>T (p.His780=)
|
rs150691722
|
0.00010
|
|
NM_173660.5(DOK7):c.1470G>A (p.Ser490=)
|
rs543344505
|
0.00010
|
|
NM_173660.5(DOK7):c.332-13C>T
|
rs778628534
|
0.00010
|
|
NM_173660.5(DOK7):c.962C>T (p.Pro321Leu)
|
rs560882592
|
0.00010
|
|
NM_000079.4(CHRNA1):c.372G>A (p.Lys124=)
|
rs143047599
|
0.00009
|
|
NM_000079.4(CHRNA1):c.657G>C (p.Leu219=)
|
rs375856493
|
0.00009
|
|
NM_000135.4(FANCA):c.1371G>T (p.Gly457=)
|
rs369988875
|
0.00009
|
|
NM_000135.4(FANCA):c.1567-6C>T
|
rs377706883
|
0.00009
|
|
NM_000135.4(FANCA):c.1776+13C>T
|
rs371272310
|
0.00009
|
|
NM_000135.4(FANCA):c.189+12C>G
|
rs753101174
|
0.00009
|
|
NM_000135.4(FANCA):c.2376T>C (p.Gly792=)
|
rs756138062
|
0.00009
|
|
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)
|
rs774863156
|
0.00009
|
|
NM_000135.4(FANCA):c.3138C>T (p.His1046=)
|
rs150884376
|
0.00009
|
|
NM_000135.4(FANCA):c.3239+20G>C
|
rs755548646
|
0.00009
|
|
NM_000135.4(FANCA):c.3348+11C>T
|
rs367624518
|
0.00009
|
|
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)
|
rs138144828
|
0.00009
|
|
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=)
|
rs774576283
|
0.00009
|
|
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)
|
rs139478274
|
0.00009
|
|
NM_000136.3(FANCC):c.1073-5C>T
|
rs375613884
|
0.00009
|
|
NM_000136.3(FANCC):c.251-20T>C
|
rs370867462
|
0.00009
|
|
NM_000751.3(CHRND):c.198+7G>A
|
rs372767822
|
0.00009
|
|
NM_000751.3(CHRND):c.480C>T (p.Phe160=)
|
rs200986300
|
0.00009
|
|
NM_000751.3(CHRND):c.705C>T (p.Asp235=)
|
rs145634347
|
0.00009
|
|
NM_001018113.3(FANCB):c.1570C>G (p.Gln524Glu)
|
rs370248837
|
0.00009
|
|
NM_001018113.3(FANCB):c.1817G>A (p.Ser606Asn)
|
rs148560784
|
0.00009
|
|
NM_001018113.3(FANCB):c.414T>A (p.Asn138Lys)
|
rs201281219
|
0.00009
|
|
NM_001018115.3(FANCD2):c.3165C>T (p.Tyr1055=)
|
rs375929975
|
0.00009
|
|
NM_001018115.3(FANCD2):c.864C>T (p.Ser288=)
|
rs780547790
|
0.00009
|
|
NM_001113378.2(FANCI):c.165C>T (p.Pro55=)
|
rs139039885
|
0.00009
|
|
NM_001271938.2(MEGF8):c.2436G>A (p.Ser812=)
|
rs199938628
|
0.00009
|
|
NM_001271938.2(MEGF8):c.2649T>C (p.Asp883=)
|
rs757551016
|
0.00009
|
|
NM_001271938.2(MEGF8):c.7407G>A (p.Ala2469=)
|
rs111595088
|
0.00009
|
|
NM_001271938.2(MEGF8):c.8169C>T (p.Pro2723=)
|
rs138179740
|
0.00009
|
|
NM_001278689.2(EOGT):c.421-7C>T
|
rs770810315
|
0.00009
|
|
NM_001346754.2(PIGW):c.1293C>T (p.Ala431=)
|
rs138225253
|
0.00009
|
|
NM_001374353.1(GLI2):c.1577C>G (p.Ala526Gly)
|
rs201279367
|
0.00009
|
|
NM_001374353.1(GLI2):c.252C>T (p.His84=)
|
rs201412339
|
0.00009
|
|
NM_001374353.1(GLI2):c.4678G>A (p.Glu1560Lys)
|
rs770936696
|
0.00009
|
|
NM_001374353.1(GLI2):c.78C>T (p.Pro26=)
|
rs373668718
|
0.00009
|
|
NM_001429.4(EP300):c.1572G>A (p.Thr524=)
|
rs746398873
|
0.00009
|
|
NM_001429.4(EP300):c.3591-6C>T
|
rs368437789
|
0.00009
|
|
NM_001429.4(EP300):c.586A>G (p.Ile196Val)
|
rs148693910
|
0.00009
|
|
NM_001429.4(EP300):c.6315C>T (p.Gly2105=)
|
rs528866215
|
0.00009
|
|
NM_001999.4(FBN2):c.3296G>A (p.Arg1099His)
|
rs202050092
|
0.00009
|
|
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val)
|
rs201288931
|
0.00009
|
|
NM_001999.4(FBN2):c.3742A>G (p.Ile1248Val)
|
rs144933639
|
0.00009
|
|
NM_001999.4(FBN2):c.4763A>T (p.Asp1588Val)
|
rs202218356
|
0.00009
|
|
NM_001999.4(FBN2):c.5275A>C (p.Lys1759Gln)
|
rs201113098
|
0.00009
|
|
NM_001999.4(FBN2):c.5549-18G>A
|
rs371995872
|
0.00009
|
|
NM_001999.4(FBN2):c.7497G>A (p.Pro2499=)
|
rs756747736
|
0.00009
|
|
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val)
|
rs145353444
|
0.00009
|
|
NM_001999.4(FBN2):c.8289C>T (p.Tyr2763=)
|
rs190292877
|
0.00009
|
|
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met)
|
rs142747169
|
0.00009
|
|
NM_002334.4(LRP4):c.1707C>T (p.Tyr569=)
|
rs61748895
|
0.00009
|
|
NM_002334.4(LRP4):c.2112C>T (p.Asp704=)
|
rs140757594
|
0.00009
|
|
NM_002334.4(LRP4):c.2216-14C>T
|
rs369714698
|
0.00009
|
|
NM_002334.4(LRP4):c.3537-13C>A
|
rs752687926
|
0.00009
|
|
NM_002334.4(LRP4):c.426G>A (p.Gln142=)
|
rs371955690
|
0.00009
|
|
NM_002334.4(LRP4):c.4317C>T (p.Ala1439=)
|
rs376909913
|
0.00009
|
|
NM_002968.3(SALL1):c.1227C>T (p.Ile409=)
|
rs368412604
|
0.00009
|
|
NM_002968.3(SALL1):c.3665C>T (p.Ala1222Val)
|
rs578198178
|
0.00009
|
|
NM_003289.4(TPM2):c.773-19C>T
|
rs111370399
|
0.00009
|
|
NM_004380.3(CREBBP):c.1143G>A (p.Ser381=)
|
rs147342740
|
0.00009
|
|
NM_004380.3(CREBBP):c.2118A>G (p.Gly706=)
|
rs778065124
|
0.00009
|
|
NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=)
|
rs150189749
|
0.00009
|
|
NM_004380.3(CREBBP):c.5334G>A (p.Ser1778=)
|
rs201062642
|
0.00009
|
|
NM_004380.3(CREBBP):c.6324C>T (p.Tyr2108=)
|
rs199821421
|
0.00009
|
|
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)
|
rs759047530
|
0.00009
|
|
NM_004629.2(FANCG):c.373_375dup (p.Val125dup)
|
rs750843326
|
0.00009
|
|
NM_005055.5(RAPSN):c.1166+13G>C
|
rs745720985
|
0.00009
|
|
NM_005236.3(ERCC4):c.1123C>T (p.Leu375=)
|
rs376695854
|
0.00009
|
|
NM_005236.3(ERCC4):c.1860C>G (p.Leu620=)
|
rs758451676
|
0.00009
|
|
NM_005236.3(ERCC4):c.1983A>G (p.Ala661=)
|
rs373237850
|
0.00009
|
|
NM_005236.3(ERCC4):c.537A>G (p.Glu179=)
|
rs373408411
|
0.00009
|
|
NM_005445.4(SMC3):c.810C>T (p.Ile270=)
|
rs148729748
|
0.00009
|
|
NM_005445.4(SMC3):c.970-14T>C
|
rs200511874
|
0.00009
|
|
NM_005592.4(MUSK):c.1689C>G (p.Pro563=)
|
rs376052538
|
0.00009
|
|
NM_006147.4(IRF6):c.711C>T (p.Tyr237=)
|
rs201940391
|
0.00009
|
|
NM_006265.3(RAD21):c.450G>A (p.Gly150=)
|
rs188711205
|
0.00009
|
|
NM_013352.4(DSE):c.2601C>T (p.Tyr867=)
|
rs535021192
|
0.00009
|
|
NM_014918.5(CHSY1):c.1893C>T (p.Asp631=)
|
rs368276647
|
0.00009
|
|
NM_014918.5(CHSY1):c.519C>T (p.Asp173=)
|
rs143062356
|
0.00009
|
|
NM_016277.5(RAB23):c.594T>G (p.Gly198=)
|
rs151203723
|
0.00009
|
|
NM_017617.5(NOTCH1):c.1904-13G>A
|
rs371069516
|
0.00009
|
|
NM_017617.5(NOTCH1):c.3334G>A (p.Val1112Ile)
|
rs370696201
|
0.00009
|
|
NM_017617.5(NOTCH1):c.3966C>T (p.Cys1322=)
|
rs753290862
|
0.00009
|
|
NM_017617.5(NOTCH1):c.403+17A>T
|
rs544324440
|
0.00009
|
|
NM_017617.5(NOTCH1):c.4296C>T (p.Phe1432=)
|
rs774697636
|
0.00009
|
|
NM_017617.5(NOTCH1):c.4314C>T (p.Arg1438=)
|
rs757256477
|
0.00009
|
|
NM_017617.5(NOTCH1):c.4586+10C>T
|
rs760225110
|
0.00009
|
|
NM_017617.5(NOTCH1):c.4860C>T (p.Tyr1620=)
|
rs375196212
|
0.00009
|
|
NM_017617.5(NOTCH1):c.5018+14G>A
|
rs936227030
|
0.00009
|
|
NM_017617.5(NOTCH1):c.5019-6G>A
|
rs978561896
|
0.00009
|
|
NM_017617.5(NOTCH1):c.6083-5C>T
|
rs199786076
|
0.00009
|
|
NM_017617.5(NOTCH1):c.7645C>T (p.Arg2549Cys)
|
rs200893930
|
0.00009
|
|
NM_018062.4(FANCL):c.217-4C>A
|
rs369048526
|
0.00009
|
|
NM_020937.4(FANCM):c.1396+10A>G
|
rs371211104
|
0.00009
|
|
NM_020937.4(FANCM):c.1668T>C (p.Asp556=)
|
rs142380037
|
0.00009
|
|
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)
|
rs552241929
|
0.00009
|
|
NM_021922.3(FANCE):c.856-5C>T
|
rs749252957
|
0.00009
|
|
NM_023110.3(FGFR1):c.1978-8del
|
rs112311314
|
0.00009
|
|
NM_023110.3(FGFR1):c.273C>T (p.Ser91=)
|
rs201823433
|
0.00009
|
|
NM_023110.3(FGFR1):c.69G>A (p.Pro23=)
|
rs369704492
|
0.00009
|
|
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=)
|
rs377010221
|
0.00009
|
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
|
NM_032444.4(SLX4):c.1641G>A (p.Thr547=)
|
rs200497436
|
0.00009
|
|
NM_032444.4(SLX4):c.4151T>C (p.Leu1384Pro)
|
rs553317304
|
0.00009
|
|
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser)
|
rs2291703
|
0.00009
|
|
NM_133433.4(NIPBL):c.1263G>A (p.Ser421=)
|
rs777731868
|
0.00009
|
|
NM_133433.4(NIPBL):c.4374T>G (p.Thr1458=)
|
rs749296628
|
0.00009
|
|
NM_133433.4(NIPBL):c.458+7T>C
|
rs200829209
|
0.00009
|
|
NM_147127.5(EVC2):c.129C>T (p.Gly43=)
|
rs985034372
|
0.00009
|
|
NM_147127.5(EVC2):c.2793C>T (p.Leu931=)
|
rs764663533
|
0.00009
|
|
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met)
|
rs200105743
|
0.00009
|
|
NM_147127.5(EVC2):c.3519C>T (p.Ser1173=)
|
rs749446584
|
0.00009
|
|
NM_147127.5(EVC2):c.3558-6C>T
|
rs527866261
|
0.00009
|
|
NM_147127.5(EVC2):c.765C>T (p.Asn255=)
|
rs139129327
|
0.00009
|
|
NM_147127.5(EVC2):c.817-17C>A
|
rs371482683
|
0.00009
|
|
NM_153717.3(EVC):c.759A>G (p.Ser253=)
|
rs201105095
|
0.00009
|
|
NM_173660.5(DOK7):c.1144G>A (p.Glu382Lys)
|
rs560463670
|
0.00009
|
|
NM_173660.5(DOK7):c.480C>T (p.Tyr160=)
|
rs550024569
|
0.00009
|
|
NM_173660.5(DOK7):c.561C>T (p.Ala187=)
|
rs140026458
|
0.00009
|
|
NM_173660.5(DOK7):c.597C>T (p.Ile199=)
|
rs771302576
|
0.00009
|
|
NM_000079.4(CHRNA1):c.525C>T (p.Val175=)
|
rs186421442
|
0.00008
|
|
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)
|
rs367880372
|
0.00008
|
|
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)
|
rs199601218
|
0.00008
|
|
NM_000135.4(FANCA):c.3734A>G (p.Gln1245Arg)
|
rs542032916
|
0.00008
|
|
NM_000135.4(FANCA):c.4035C>T (p.Asp1345=)
|
rs17227389
|
0.00008
|
|
NM_000135.4(FANCA):c.709+9A>G
|
rs371624767
|
0.00008
|
|
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)
|
rs185984960
|
0.00008
|
|
NM_000136.3(FANCC):c.1533+13G>A
|
rs200515307
|
0.00008
|
|
NM_000751.3(CHRND):c.360C>T (p.Asp120=)
|
rs764641517
|
0.00008
|
|
NM_000751.3(CHRND):c.411C>T (p.Gly137=)
|
rs373578965
|
0.00008
|
|
NM_000751.3(CHRND):c.53-16C>T
|
rs776242631
|
0.00008
|
|
NM_001018113.3(FANCB):c.1077A>T (p.Ile359=)
|
rs191379403
|
0.00008
|
|
NM_001018113.3(FANCB):c.833A>G (p.Gln278Arg)
|
rs150435015
|
0.00008
|
|
NM_001018115.3(FANCD2):c.2269+15C>T
|
rs374096957
|
0.00008
|
|
NM_001018115.3(FANCD2):c.439-18C>A
|
rs184060118
|
0.00008
|
|
NM_001018115.3(FANCD2):c.672C>T (p.His224=)
|
rs371928644
|
0.00008
|
|
NM_001113378.2(FANCI):c.669+14A>G
|
rs369804967
|
0.00008
|
|
NM_001113525.2(ZNF276):c.*1224G>A
|
rs763049986
|
0.00008
|
|
NM_001271938.2(MEGF8):c.3456G>A (p.Pro1152=)
|
rs200838638
|
0.00008
|
|
NM_001271938.2(MEGF8):c.6909C>T (p.His2303=)
|
rs552181649
|
0.00008
|
|
NM_001346754.2(PIGW):c.570T>C (p.Tyr190=)
|
rs371568140
|
0.00008
|
|
NM_001374353.1(GLI2):c.2987C>G (p.Pro996Arg)
|
rs780303555
|
0.00008
|
|
NM_001429.4(EP300):c.5967G>A (p.Met1989Ile)
|
rs763795718
|
0.00008
|
|
NM_001429.4(EP300):c.6934C>T (p.Pro2312Ser)
|
rs137935821
|
0.00008
|
|
NM_001999.4(FBN2):c.5637C>T (p.Ala1879=)
|
rs367620361
|
0.00008
|
|
NM_001999.4(FBN2):c.6597A>G (p.Pro2199=)
|
rs150305429
|
0.00008
|
|
NM_001999.4(FBN2):c.7212C>T (p.Leu2404=)
|
rs368506842
|
0.00008
|
|
NM_001999.4(FBN2):c.8124C>T (p.Tyr2708=)
|
rs201634501
|
0.00008
|
|
NM_002334.4(LRP4):c.282C>T (p.Asn94=)
|
rs17848224
|
0.00008
|
|
NM_003334.4(UBA1):c.1156C>T (p.Leu386=)
|
rs782722368
|
0.00008
|
|
NM_003334.4(UBA1):c.1665C>T (p.Asp555=)
|
rs376109672
|
0.00008
|
|
NM_003334.4(UBA1):c.2813A>G (p.Glu938Gly)
|
rs782120956
|
0.00008
|
|
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser)
|
rs587783466
|
0.00008
|
|
NM_004380.3(CREBBP):c.4560+9C>T
|
rs201631062
|
0.00008
|
|
NM_005055.5(RAPSN):c.790-5T>C
|
rs369823690
|
0.00008
|
|
NM_005236.3(ERCC4):c.714G>A (p.Lys238=)
|
rs780166871
|
0.00008
|
|
NM_005592.4(MUSK):c.1778+13A>G
|
rs371275445
|
0.00008
|
|
NM_006147.4(IRF6):c.380-4G>A
|
rs373381488
|
0.00008
|
|
NM_006265.3(RAD21):c.1471-16T>C
|
rs202211817
|
0.00008
|
|
NM_006306.4(SMC1A):c.579G>A (p.Ala193=)
|
rs199571320
|
0.00008
|
|
NM_013352.4(DSE):c.1381G>A (p.Ala461Thr)
|
rs181711422
|
0.00008
|
|
NM_013352.4(DSE):c.1860C>T (p.Asp620=)
|
rs376227527
|
0.00008
|
|
NM_014918.5(CHSY1):c.135C>T (p.Pro45=)
|
rs921119348
|
0.00008
|
|
NM_017617.5(NOTCH1):c.1870G>A (p.Ala624Thr)
|
rs372771179
|
0.00008
|
|
NM_017617.5(NOTCH1):c.2724C>T (p.Ile908=)
|
rs61751547
|
0.00008
|
|
NM_017617.5(NOTCH1):c.3519C>T (p.Ala1173=)
|
rs765576108
|
0.00008
|
|
NM_017617.5(NOTCH1):c.3768G>A (p.Pro1256=)
|
rs779987984
|
0.00008
|
|
NM_017617.5(NOTCH1):c.4313G>A (p.Arg1438His)
|
rs61751541
|
0.00008
|
|
NM_017617.5(NOTCH1):c.5018+13C>T
|
rs752508890
|
0.00008
|
|
NM_017617.5(NOTCH1):c.516C>T (p.Gly172=)
|
rs377685034
|
0.00008
|
|
NM_017617.5(NOTCH1):c.5224G>T (p.Ala1742Ser)
|
rs760669267
|
0.00008
|
|
NM_017617.5(NOTCH1):c.6083-4G>A
|
rs570242146
|
0.00008
|
|
NM_018062.4(FANCL):c.1124A>C (p.His375Pro)
|
rs545084971
|
0.00008
|
|
NM_018486.3(HDAC8):c.384C>T (p.Asp128=)
|
rs1250641302
|
0.00008
|
|
NM_020937.4(FANCM):c.3735A>T (p.Ile1245=)
|
rs574509639
|
0.00008
|
|
NM_020937.4(FANCM):c.4223-4A>G
|
rs191128410
|
0.00008
|
|
NM_020937.4(FANCM):c.4716A>G (p.Pro1572=)
|
rs953261541
|
0.00008
|
|
NM_021922.3(FANCE):c.1238-10C>T
|
rs765940689
|
0.00008
|
|
NM_021922.3(FANCE):c.1464C>T (p.Ala488=)
|
rs779775366
|
0.00008
|
|
NM_022725.4(FANCF):c.349C>A (p.Pro117Thr)
|
rs372625322
|
0.00008
|
|
NM_023110.3(FGFR1):c.211G>T (p.Val71Leu)
|
rs561300213
|
0.00008
|
|
NM_032444.4(SLX4):c.4572C>T (p.Thr1524=)
|
rs144666372
|
0.00008
|
|
NM_032444.4(SLX4):c.4665C>T (p.Pro1555=)
|
rs749018784
|
0.00008
|
|
NM_032444.4(SLX4):c.5153+17G>A
|
rs768122851
|
0.00008
|
|
NM_032444.4(SLX4):c.5229G>A (p.Ser1743=)
|
rs140231739
|
0.00008
|
|
NM_032634.4(PIGO):c.2169G>A (p.Ser723=)
|
rs780502790
|
0.00008
|
|
NM_130468.4(CHST14):c.151G>C (p.Val51Leu)
|
rs199749498
|
0.00008
|
|
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=)
|
rs147865925
|
0.00008
|
|
NM_133433.4(NIPBL):c.6590-9C>T
|
rs201043922
|
0.00008
|
|
NM_147127.5(EVC2):c.1041G>A (p.Pro347=)
|
rs778170817
|
0.00008
|
|
NM_147127.5(EVC2):c.2250G>A (p.Glu750=)
|
rs552887116
|
0.00008
|
|
NM_147127.5(EVC2):c.297T>G (p.Leu99=)
|
rs780711879
|
0.00008
|
|
NM_147127.5(EVC2):c.3558-8G>A
|
rs775806827
|
0.00008
|
|
NM_147127.5(EVC2):c.520-6C>T
|
rs747479747
|
0.00008
|
|
NM_153717.3(EVC):c.2102C>T (p.Ala701Val)
|
rs571809727
|
0.00008
|
|
NM_153717.3(EVC):c.2895-4T>C
|
rs775049818
|
0.00008
|
|
NM_173660.5(DOK7):c.213C>T (p.Tyr71=)
|
rs760236131
|
0.00008
|
|
NM_173660.5(DOK7):c.54+13C>T
|
rs912327595
|
0.00008
|
|
NM_173660.5(DOK7):c.772+8C>T
|
rs199769286
|
0.00008
|
|
NM_173660.5(DOK7):c.804A>G (p.Ser268=)
|
rs781113489
|
0.00008
|
|
NM_000135.4(FANCA):c.1225+14C>T
|
rs376558078
|
0.00007
|
|
NM_000135.4(FANCA):c.1332G>A (p.Ala444=)
|
rs377705748
|
0.00007
|
|
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)
|
rs755925068
|
0.00007
|
|
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)
|
rs200922390
|
0.00007
|
|
NM_000135.4(FANCA):c.2222+7G>A
|
rs374312736
|
0.00007
|
|
NM_000135.4(FANCA):c.2505-18T>C
|
rs750140062
|
0.00007
|
|
NM_000135.4(FANCA):c.265C>T (p.His89Tyr)
|
rs746125523
|
0.00007
|
|
NM_000135.4(FANCA):c.2820A>G (p.Gln940=)
|
rs776686639
|
0.00007
|
|
NM_000135.4(FANCA):c.2981+4dup
|
rs75004096
|
0.00007
|
|
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser)
|
rs757175768
|
0.00007
|
|
NM_000135.4(FANCA):c.303A>G (p.Gln101=)
|
rs199552612
|
0.00007
|
|
NM_000135.4(FANCA):c.3615G>A (p.Gln1205=)
|
rs368349576
|
0.00007
|
|
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn)
|
rs148419748
|
0.00007
|
|
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)
|
rs555519520
|
0.00007
|
|
NM_000135.4(FANCA):c.918G>A (p.Thr306=)
|
rs199634699
|
0.00007
|
|
NM_000136.3(FANCC):c.531C>T (p.Pro177=)
|
rs150070473
|
0.00007
|
|
NM_000751.3(CHRND):c.1035G>A (p.Glu345=)
|
rs548168819
|
0.00007
|
|
NM_001018115.3(FANCD2):c.1338A>C (p.Leu446=)
|
rs752268889
|
0.00007
|
|
NM_001018115.3(FANCD2):c.3642T>A (p.Ser1214=)
|
rs538250317
|
0.00007
|
|
NM_001018115.3(FANCD2):c.3964-19A>G
|
rs200544843
|
0.00007
|
|
NM_001271938.2(MEGF8):c.2856-4C>G
|
rs749739307
|
0.00007
|
|
NM_001271938.2(MEGF8):c.3761+19C>A
|
rs371147358
|
0.00007
|
|
NM_001271938.2(MEGF8):c.3846C>T (p.Val1282=)
|
rs142473307
|
0.00007
|
|
NM_001271938.2(MEGF8):c.5382G>A (p.Gly1794=)
|
rs905021679
|
0.00007
|
|
NM_001271938.2(MEGF8):c.6426G>A (p.Gly2142=)
|
rs772127120
|
0.00007
|
|
NM_001346754.2(PIGW):c.798C>T (p.Leu266=)
|
rs368650542
|
0.00007
|
|
NM_001374353.1(GLI2):c.1875C>T (p.His625=)
|
rs372341303
|
0.00007
|
|
NM_001429.4(EP300):c.2245A>G (p.Met749Val)
|
rs370478867
|
0.00007
|
|
NM_001429.4(EP300):c.5832C>T (p.His1944=)
|
rs142885571
|
0.00007
|
|
NM_001429.4(EP300):c.6406A>G (p.Met2136Val)
|
rs372874467
|
0.00007
|
|
NM_001999.4(FBN2):c.2198C>G (p.Pro733Arg)
|
rs745528502
|
0.00007
|
|
NM_001999.4(FBN2):c.3839C>T (p.Ser1280Leu)
|
rs200481467
|
0.00007
|
|
NM_001999.4(FBN2):c.3964A>G (p.Thr1322Ala)
|
rs367614052
|
0.00007
|
|
NM_001999.4(FBN2):c.4035G>A (p.Lys1345=)
|
rs772465221
|
0.00007
|
|
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His)
|
rs143462011
|
0.00007
|
|
NM_001999.4(FBN2):c.5447C>T (p.Pro1816Leu)
|
rs149537608
|
0.00007
|
|
NM_001999.4(FBN2):c.6063C>T (p.Val2021=)
|
rs149380208
|
0.00007
|
|
NM_001999.4(FBN2):c.6512-7A>G
|
rs201462445
|
0.00007
|
|
NM_001999.4(FBN2):c.8085C>T (p.Asp2695=)
|
rs765452930
|
0.00007
|
|
NM_002334.4(LRP4):c.660A>G (p.Ser220=)
|
rs200129866
|
0.00007
|
|
NM_002968.3(SALL1):c.1953C>T (p.Pro651=)
|
rs147169088
|
0.00007
|
|
NM_002968.3(SALL1):c.3270C>T (p.Asn1090=)
|
rs143637930
|
0.00007
|
|
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=)
|
rs371285951
|
0.00007
|
|
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser)
|
rs148023511
|
0.00007
|
|
NM_004380.3(CREBBP):c.2439G>A (p.Pro813=)
|
rs763702839
|
0.00007
|
|
NM_004380.3(CREBBP):c.3301C>T (p.Leu1101=)
|
rs766505219
|
0.00007
|
|
NM_004380.3(CREBBP):c.3370-17A>T
|
rs767500889
|
0.00007
|
|
NM_004380.3(CREBBP):c.3982+10G>A
|
rs370093745
|
0.00007
|
|
NM_004380.3(CREBBP):c.5172+19C>G
|
rs371471977
|
0.00007
|
|
NM_004380.3(CREBBP):c.5922G>A (p.Arg1974=)
|
rs202099897
|
0.00007
|
|
NM_004380.3(CREBBP):c.6465T>G (p.Pro2155=)
|
rs746868061
|
0.00007
|
|
NM_004380.3(CREBBP):c.7194A>G (p.Gly2398=)
|
rs773968231
|
0.00007
|
|
NM_004380.3(CREBBP):c.7197C>T (p.His2399=)
|
rs375864984
|
0.00007
|
|
NM_005055.5(RAPSN):c.1189C>T (p.Arg397Trp)
|
rs201796294
|
0.00007
|
|
NM_005105.5(RBM8A):c.265A>G (p.Ile89Val)
|
rs201156815
|
0.00007
|
|
NM_005236.3(ERCC4):c.1284G>A (p.Ala428=)
|
rs3136151
|
0.00007
|
|
NM_005236.3(ERCC4):c.2265C>T (p.Pro755=)
|
rs555317161
|
0.00007
|
|
NM_005236.3(ERCC4):c.2734G>A (p.Gly912Arg)
|
rs150077735
|
0.00007
|
|
NM_005445.4(SMC3):c.2493T>C (p.Tyr831=)
|
rs112525060
|
0.00007
|
|
NM_006306.4(SMC1A):c.1431G>C (p.Leu477=)
|
rs1392864809
|
0.00007
|
|
NM_006306.4(SMC1A):c.764G>A (p.Arg255His)
|
rs782606119
|
0.00007
|
|
NM_013352.4(DSE):c.1005T>A (p.Arg335=)
|
rs375802351
|
0.00007
|
|
NM_017617.5(NOTCH1):c.2014+16C>T
|
rs199814619
|
0.00007
|
|
NM_017617.5(NOTCH1):c.2207+15C>T
|
rs187086513
|
0.00007
|
|
NM_017617.5(NOTCH1):c.2784G>A (p.Thr928=)
|
rs200082362
|
0.00007
|
|
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=)
|
rs199793164
|
0.00007
|
|
NM_017617.5(NOTCH1):c.3901+19C>T
|
rs373752718
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4101G>A (p.Pro1367=)
|
rs374921637
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=)
|
rs751191827
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4551C>T (p.Asp1517=)
|
rs766737406
|
0.00007
|
|
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=)
|
rs370523171
|
0.00007
|
|
NM_017617.5(NOTCH1):c.5682C>T (p.Gly1894=)
|
rs541372272
|
0.00007
|
|
NM_020937.4(FANCM):c.2703A>G (p.Ser901=)
|
rs781066677
|
0.00007
|
|
NM_020937.4(FANCM):c.2997G>A (p.Pro999=)
|
rs141430587
|
0.00007
|
|
NM_020937.4(FANCM):c.93A>G (p.Arg31=)
|
rs112641528
|
0.00007
|
|
NM_032043.3(BRIP1):c.1629-11T>C
|
rs375710640
|
0.00007
|
|
NM_032043.3(BRIP1):c.3079G>A (p.Glu1027Lys)
|
rs371185409
|
0.00007
|
|
NM_032043.3(BRIP1):c.3336T>C (p.Asp1112=)
|
rs369843642
|
0.00007
|
|
NM_032444.4(SLX4):c.1701C>T (p.Pro567=)
|
rs776750571
|
0.00007
|
|
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu)
|
rs534528576
|
0.00007
|
|
NM_032444.4(SLX4):c.192A>G (p.Lys64=)
|
rs756720856
|
0.00007
|
|
NM_032444.4(SLX4):c.3861G>A (p.Val1287=)
|
rs756446820
|
0.00007
|
|
NM_032444.4(SLX4):c.4149C>T (p.Phe1383=)
|
rs983816841
|
0.00007
|
|
NM_032444.4(SLX4):c.4344C>T (p.Pro1448=)
|
rs368388100
|
0.00007
|
|
NM_032444.4(SLX4):c.4869G>A (p.Ala1623=)
|
rs372206872
|
0.00007
|
|
NM_032444.4(SLX4):c.950+19G>A
|
rs765606980
|
0.00007
|
|
NM_032634.4(PIGO):c.1320C>T (p.Ile440=)
|
rs780469801
|
0.00007
|
|
NM_133433.4(NIPBL):c.2105C>T (p.Thr702Ile)
|
rs372162252
|
0.00007
|
|
NM_147127.5(EVC2):c.2202C>T (p.Asp734=)
|
rs199788223
|
0.00007
|
|
NM_147127.5(EVC2):c.2613C>T (p.Ile871=)
|
rs759358405
|
0.00007
|
|
NM_147127.5(EVC2):c.3636G>C (p.Leu1212=)
|
rs749901674
|
0.00007
|
|
NM_153717.3(EVC):c.2041G>A (p.Glu681Lys)
|
rs201877358
|
0.00007
|
|
NM_173660.5(DOK7):c.297G>A (p.Ala99=)
|
rs201351460
|
0.00007
|
|
NM_173660.5(DOK7):c.903A>C (p.Pro301=)
|
rs145040126
|
0.00007
|
|
NM_000079.4(CHRNA1):c.1242+10G>A
|
rs758078454
|
0.00006
|
|
NM_000079.4(CHRNA1):c.541-15del
|
rs748211851
|
0.00006
|
|
NM_000079.4(CHRNA1):c.64G>A (p.Glu22Lys)
|
rs368979094
|
0.00006
|
|
NM_000079.4(CHRNA1):c.676G>A (p.Val226Ile)
|
rs200102479
|
0.00006
|
|
NM_000079.4(CHRNA1):c.927C>A (p.Ile309=)
|
rs758834482
|
0.00006
|
|
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)
|
rs762647468
|
0.00006
|
|
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)
|
rs201212806
|
0.00006
|
|
NM_000135.4(FANCA):c.1806G>A (p.Ala602=)
|
rs550064744
|
0.00006
|
|
NM_000135.4(FANCA):c.1901-10C>T
|
rs766654290
|
0.00006
|
|
NM_000135.4(FANCA):c.2778+12T>C
|
rs775047268
|
0.00006
|
|
NM_000135.4(FANCA):c.2778+83C>T
|
rs750997715
|
0.00006
|
|
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys)
|
rs142377616
|
0.00006
|
|
NM_000135.4(FANCA):c.3279C>T (p.Ser1093=)
|
rs575863400
|
0.00006
|
|
NM_000135.4(FANCA):c.3348+17C>T
|
rs192934767
|
0.00006
|
|
NM_000135.4(FANCA):c.3408+16A>G
|
rs373636902
|
0.00006
|
|
NM_000135.4(FANCA):c.3626+16G>A
|
rs375826280
|
0.00006
|
|
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)
|
rs376523966
|
0.00006
|
|
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)
|
rs374649848
|
0.00006
|
|
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)
|
rs145886270
|
0.00006
|
|
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln)
|
rs370507983
|
0.00006
|
|
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)
|
rs201494304
|
0.00006
|
|
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)
|
rs374984587
|
0.00006
|
|
NM_000135.4(FANCA):c.537T>G (p.Leu179=)
|
rs749811331
|
0.00006
|
|
NM_000135.4(FANCA):c.710-9G>A
|
rs772864817
|
0.00006
|
|
NM_000136.3(FANCC):c.-65C>T
|
rs371725430
|
0.00006
|
|
NM_000136.3(FANCC):c.1155-13G>T
|
rs747142087
|
0.00006
|
|
NM_000136.3(FANCC):c.1242G>A (p.Ser414=)
|
rs587780939
|
0.00006
|
|
NM_000136.3(FANCC):c.609C>T (p.Leu203=)
|
rs567226063
|
0.00006
|
|
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln)
|
rs749866545
|
0.00006
|
|
NM_000751.3(CHRND):c.1476C>T (p.Gly492=)
|
rs748744922
|
0.00006
|
|
NM_000751.3(CHRND):c.415G>A (p.Val139Met)
|
rs147452877
|
0.00006
|
|
NM_001018115.3(FANCD2):c.1546-8T>C
|
rs530202330
|
0.00006
|
|
NM_001018115.3(FANCD2):c.4186-13C>T
|
rs755767180
|
0.00006
|
|
NM_001018115.3(FANCD2):c.538C>T (p.Leu180=)
|
rs373835427
|
0.00006
|
|
NM_001018115.3(FANCD2):c.889-9T>A
|
rs767122938
|
0.00006
|
|
NM_001113378.2(FANCI):c.1111A>G (p.Ser371Gly)
|
rs149008055
|
0.00006
|
|
NM_001113378.2(FANCI):c.1734C>T (p.Val578=)
|
rs536499156
|
0.00006
|
|
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=)
|
rs563218968
|
0.00006
|
|
NM_001113378.2(FANCI):c.2023T>C (p.Leu675=)
|
rs144800324
|
0.00006
|
|
NM_001113378.2(FANCI):c.2292-11G>C
|
rs763570868
|
0.00006
|
|
NM_001113378.2(FANCI):c.2751T>C (p.Ser917=)
|
rs202135041
|
0.00006
|
|
NM_001113378.2(FANCI):c.2890-19G>A
|
rs758850736
|
0.00006
|
|
NM_001113378.2(FANCI):c.546-19T>C
|
rs111301033
|
0.00006
|
|
NM_001113378.2(FANCI):c.798T>C (p.His266=)
|
rs148856789
|
0.00006
|
|
NM_001113525.2(ZNF276):c.*2634C>T
|
rs34476949
|
0.00006
|
|
NM_001271938.2(MEGF8):c.1789-5C>T
|
rs752609842
|
0.00006
|
|
NM_001271938.2(MEGF8):c.2784G>A (p.Ala928=)
|
rs750686408
|
0.00006
|
|
NM_001271938.2(MEGF8):c.3951C>T (p.Pro1317=)
|
rs139891048
|
0.00006
|
|
NM_001271938.2(MEGF8):c.6753G>A (p.Thr2251=)
|
rs372437317
|
0.00006
|
|
NM_001271938.2(MEGF8):c.7311C>T (p.Gly2437=)
|
rs375011847
|
0.00006
|
|
NM_001271938.2(MEGF8):c.7713G>A (p.Pro2571=)
|
rs200748447
|
0.00006
|
|
NM_001278689.2(EOGT):c.624T>C (p.Phe208=)
|
rs371892977
|
0.00006
|
|
NM_001346754.2(PIGW):c.405T>C (p.Ile135=)
|
rs150604569
|
0.00006
|
|
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys)
|
rs200076785
|
0.00006
|
|
NM_001374353.1(GLI2):c.672G>A (p.Thr224=)
|
rs147049153
|
0.00006
|
|
NM_001429.4(EP300):c.3377A>G (p.Asn1126Ser)
|
rs777847755
|
0.00006
|
|
NM_001429.4(EP300):c.3591-19A>G
|
rs376628079
|
0.00006
|
|
NM_001429.4(EP300):c.4214G>A (p.Arg1405His)
|
rs138855106
|
0.00006
|
|
NM_001429.4(EP300):c.5568G>A (p.Thr1856=)
|
rs202043101
|
0.00006
|
|
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu)
|
rs144626200
|
0.00006
|
|
NM_001429.4(EP300):c.6649G>A (p.Val2217Ile)
|
rs368554118
|
0.00006
|
|
NM_001429.4(EP300):c.6912C>T (p.Ser2304=)
|
rs113329190
|
0.00006
|
|
NM_001429.4(EP300):c.6950G>A (p.Arg2317Gln)
|
rs149456776
|
0.00006
|
|
NM_001999.4(FBN2):c.1666T>C (p.Tyr556His)
|
rs1256710897
|
0.00006
|
|
NM_001999.4(FBN2):c.2508G>A (p.Thr836=)
|
rs372872626
|
0.00006
|
|
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=)
|
rs371640952
|
0.00006
|
|
NM_001999.4(FBN2):c.3883G>A (p.Asp1295Asn)
|
rs759131544
|
0.00006
|
|
NM_001999.4(FBN2):c.3908C>T (p.Pro1303Leu)
|
rs144505094
|
0.00006
|
|
NM_001999.4(FBN2):c.4757G>C (p.Arg1586Pro)
|
rs143195229
|
0.00006
|
|
NM_001999.4(FBN2):c.5423-8C>A
|
rs1195073601
|
0.00006
|
|
NM_001999.4(FBN2):c.5853C>T (p.Thr1951=)
|
rs377133710
|
0.00006
|
|
NM_001999.4(FBN2):c.5855T>C (p.Val1952Ala)
|
rs372879535
|
0.00006
|
|
NM_001999.4(FBN2):c.6433A>G (p.Lys2145Glu)
|
rs766271753
|
0.00006
|
|
NM_001999.4(FBN2):c.7583A>G (p.Lys2528Arg)
|
rs749623269
|
0.00006
|
|
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu)
|
rs373970388
|
0.00006
|
|
NM_001999.4(FBN2):c.7808T>C (p.Phe2603Ser)
|
rs374507398
|
0.00006
|
|
NM_001999.4(FBN2):c.803A>G (p.Asn268Ser)
|
rs760817242
|
0.00006
|
|
NM_001999.4(FBN2):c.8086G>A (p.Val2696Met)
|
rs373994051
|
0.00006
|
|
NM_002334.4(LRP4):c.1023C>T (p.Ser341=)
|
rs200097836
|
0.00006
|
|
NM_002334.4(LRP4):c.1048+20G>A
|
rs199512829
|
0.00006
|
|
NM_002334.4(LRP4):c.1584C>T (p.Thr528=)
|
rs574108233
|
0.00006
|
|
NM_002334.4(LRP4):c.177C>T (p.Asp59=)
|
rs373625784
|
0.00006
|
|
NM_002334.4(LRP4):c.2318G>A (p.Arg773His)
|
rs374890595
|
0.00006
|
|
NM_002334.4(LRP4):c.3756G>A (p.Val1252=)
|
rs75923112
|
0.00006
|
|
NM_002334.4(LRP4):c.4254C>T (p.Asn1418=)
|
rs201016203
|
0.00006
|
|
NM_002334.4(LRP4):c.4255A>G (p.Met1419Val)
|
rs779526693
|
0.00006
|
|
NM_002334.4(LRP4):c.4293C>T (p.Asp1431=)
|
rs17848229
|
0.00006
|
|
NM_002334.4(LRP4):c.4408C>T (p.Leu1470=)
|
rs372569948
|
0.00006
|
|
NM_002334.4(LRP4):c.4812C>T (p.Ile1604=)
|
rs753496184
|
0.00006
|
|
NM_002334.4(LRP4):c.612C>T (p.Ile204=)
|
rs757902891
|
0.00006
|
|
NM_002968.3(SALL1):c.2223G>A (p.Arg741=)
|
rs1430868205
|
0.00006
|
|
NM_002968.3(SALL1):c.351C>T (p.Asn117=)
|
rs145806303
|
0.00006
|
|
NM_002968.3(SALL1):c.618G>A (p.Ala206=)
|
rs773443491
|
0.00006
|
|
NM_002968.3(SALL1):c.63C>T (p.Leu21=)
|
rs536125319
|
0.00006
|
|
NM_002968.3(SALL1):c.649G>A (p.Gly217Ser)
|
rs140165636
|
0.00006
|
|
NM_003289.4(TPM2):c.225G>A (p.Glu75=)
|
rs375762242
|
0.00006
|
|
NM_003289.4(TPM2):c.357G>A (p.Ala119=)
|
rs376028030
|
0.00006
|
|
NM_003289.4(TPM2):c.374+16G>A
|
rs769858878
|
0.00006
|
|
NM_003289.4(TPM2):c.666A>G (p.Glu222=)
|
rs567593410
|
0.00006
|
|
NM_003334.4(UBA1):c.117+15C>T
|
rs782784799
|
0.00006
|
|
NM_003334.4(UBA1):c.1356C>T (p.Asp452=)
|
rs375669736
|
0.00006
|
|
NM_004380.3(CREBBP):c.2364C>T (p.Pro788=)
|
rs201070000
|
0.00006
|
|
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=)
|
rs368664039
|
0.00006
|
|
NM_004380.3(CREBBP):c.3029C>T (p.Pro1010Leu)
|
rs139896431
|
0.00006
|
|
NM_004380.3(CREBBP):c.435C>T (p.Pro145=)
|
rs201435679
|
0.00006
|
|
NM_004380.3(CREBBP):c.4560+6C>T
|
rs369973805
|
0.00006
|
|
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=)
|
rs139365408
|
0.00006
|
|
NM_004380.3(CREBBP):c.7011G>A (p.Thr2337=)
|
rs377692518
|
0.00006
|
|
NM_004380.3(CREBBP):c.7293G>A (p.Thr2431=)
|
rs587783514
|
0.00006
|
|
NM_004629.2(FANCG):c.1048C>T (p.Leu350=)
|
rs772109570
|
0.00006
|
|
NM_004629.2(FANCG):c.1182T>C (p.Pro394=)
|
rs757225801
|
0.00006
|
|
NM_004629.2(FANCG):c.1433+9G>A
|
rs187315404
|
0.00006
|
|
NM_004629.2(FANCG):c.1480+7T>C
|
rs374096159
|
0.00006
|
|
NM_004629.2(FANCG):c.1808C>T (p.Ser603Phe)
|
rs17878854
|
0.00006
|
|
NM_004629.2(FANCG):c.705G>A (p.Ala235=)
|
rs148910563
|
0.00006
|
|
NM_005055.5(RAPSN):c.30C>T (p.Ile10=)
|
rs768838402
|
0.00006
|
|
NM_005055.5(RAPSN):c.756C>T (p.Phe252=)
|
rs758794718
|
0.00006
|
|
NM_005055.5(RAPSN):c.948C>T (p.Ala316=)
|
rs374676714
|
0.00006
|
|
NM_005236.3(ERCC4):c.1740T>G (p.Leu580=)
|
rs374556359
|
0.00006
|
|
NM_005236.3(ERCC4):c.2475G>A (p.Ala825=)
|
rs200818432
|
0.00006
|
|
NM_005445.4(SMC3):c.1670+6_1670+7insAAC
|
rs766155607
|
0.00006
|
|
NM_005445.4(SMC3):c.2427+10C>G
|
rs759235379
|
0.00006
|
|
NM_005592.4(MUSK):c.1863G>A (p.Ala621=)
|
rs368049319
|
0.00006
|
|
NM_005592.4(MUSK):c.570T>C (p.Cys190=)
|
rs746340721
|
0.00006
|
|
NM_005592.4(MUSK):c.913+10C>G
|
rs761707078
|
0.00006
|
|
NM_006265.3(RAD21):c.540C>T (p.Asp180=)
|
rs761693720
|
0.00006
|
|
NM_006306.4(SMC1A):c.2977G>T (p.Ala993Ser)
|
rs782127256
|
0.00006
|
|
NM_006306.4(SMC1A):c.3177C>T (p.Phe1059=)
|
rs375312256
|
0.00006
|
|
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe)
|
rs148835205
|
0.00006
|
|
NM_012243.3(SLC35A3):c.348G>A (p.Thr116=)
|
rs574333514
|
0.00006
|
|
NM_012243.3(SLC35A3):c.525A>G (p.Gly175=)
|
rs374048002
|
0.00006
|
|
NM_013352.4(DSE):c.1419C>T (p.Tyr473=)
|
rs374010235
|
0.00006
|
|
NM_013352.4(DSE):c.600A>G (p.Gln200=)
|
rs150006874
|
0.00006
|
|
NM_014918.5(CHSY1):c.1555C>A (p.Leu519Ile)
|
rs754947736
|
0.00006
|
|
NM_017617.5(NOTCH1):c.1026C>T (p.Ala342=)
|
rs755895298
|
0.00006
|
|
NM_017617.5(NOTCH1):c.1555+15C>T
|
rs577175237
|
0.00006
|
|
NM_017617.5(NOTCH1):c.1590C>T (p.Asp530=)
|
rs562807473
|
0.00006
|
|
NM_017617.5(NOTCH1):c.2207+14C>T
|
rs369626003
|
0.00006
|
|
NM_017617.5(NOTCH1):c.2292C>T (p.Asn764=)
|
rs775201110
|
0.00006
|
|
NM_017617.5(NOTCH1):c.2588-16T>G
|
rs781139940
|
0.00006
|
|
NM_017617.5(NOTCH1):c.2640C>T (p.His880=)
|
rs374946182
|
0.00006
|
|
NM_017617.5(NOTCH1):c.2741-12G>A
|
rs370769571
|
0.00006
|
|
NM_017617.5(NOTCH1):c.2889C>T (p.Cys963=)
|
rs749585921
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3001G>A (p.Gly1001Ser)
|
rs763621169
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3171+9G>A
|
rs377541723
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=)
|
rs773990513
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser)
|
rs768095251
|
0.00006
|
|
NM_017617.5(NOTCH1):c.339C>T (p.Asn113=)
|
rs369947231
|
0.00006
|
|
NM_017617.5(NOTCH1):c.3807C>T (p.Asn1269=)
|
rs1008389563
|
0.00006
|
|
NM_017617.5(NOTCH1):c.404-13C>G
|
rs766360723
|
0.00006
|
|
NM_017617.5(NOTCH1):c.4328C>T (p.Pro1443Leu)
|
rs750010764
|
0.00006
|
|
NM_017617.5(NOTCH1):c.4371C>T (p.Asp1457=)
|
rs368677987
|
0.00006
|
|
NM_017617.5(NOTCH1):c.4718C>T (p.Thr1573Met)
|
rs573864607
|
0.00006
|
|
NM_017617.5(NOTCH1):c.4833C>T (p.His1611=)
|
rs1308437413
|
0.00006
|
|
NM_017617.5(NOTCH1):c.5118C>T (p.Leu1706=)
|
rs747037396
|
0.00006
|
|
NM_017617.5(NOTCH1):c.558C>T (p.Pro186=)
|
rs756111268
|
0.00006
|
|
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=)
|
rs369730620
|
0.00006
|
|
NM_017617.5(NOTCH1):c.5853C>T (p.Ser1951=)
|
rs373902356
|
0.00006
|
|
NM_017617.5(NOTCH1):c.6082+18C>T
|
rs200956958
|
0.00006
|
|
NM_017617.5(NOTCH1):c.6457G>A (p.Val2153Met)
|
rs375073677
|
0.00006
|
|
NM_017617.5(NOTCH1):c.6783C>T (p.Gly2261=)
|
rs749536941
|
0.00006
|
|
NM_017617.5(NOTCH1):c.6852C>T (p.Thr2284=)
|
rs777957099
|
0.00006
|
|
NM_017617.5(NOTCH1):c.6960G>A (p.Pro2320=)
|
rs768457106
|
0.00006
|
|
NM_017617.5(NOTCH1):c.6981G>T (p.Arg2327=)
|
rs376490131
|
0.00006
|
|
NM_017617.5(NOTCH1):c.702C>T (p.Arg234=)
|
rs1392150131
|
0.00006
|
|
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=)
|
rs368498380
|
0.00006
|
|
NM_017617.5(NOTCH1):c.7413G>A (p.Ser2471=)
|
rs367706382
|
0.00006
|
|
NM_017617.5(NOTCH1):c.7425C>T (p.Pro2475=)
|
rs772308416
|
0.00006
|
|
NM_017617.5(NOTCH1):c.7617T>G (p.Pro2539=)
|
rs375444185
|
0.00006
|
|
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=)
|
rs746111102
|
0.00006
|
|
NM_018062.4(FANCL):c.273+7A>C
|
rs745366278
|
0.00006
|
|
NM_018062.4(FANCL):c.471+9C>G
|
rs376716140
|
0.00006
|
|
NM_018486.3(HDAC8):c.213C>T (p.His71=)
|
rs782349794
|
0.00006
|
|
NM_020436.5(SALL4):c.318C>T (p.Ser106=)
|
rs371144604
|
0.00006
|
|
NM_020937.4(FANCM):c.1397-16T>A
|
rs752547104
|
0.00006
|
|
NM_020937.4(FANCM):c.1996A>G (p.Arg666Gly)
|
rs78437454
|
0.00006
|
|
NM_020937.4(FANCM):c.2330A>G (p.Tyr777Cys)
|
rs200173413
|
0.00006
|
|
NM_020937.4(FANCM):c.2682A>C (p.Leu894=)
|
rs757013722
|
0.00006
|
|
NM_020937.4(FANCM):c.3096T>C (p.Asp1032=)
|
rs199507375
|
0.00006
|
|
NM_020937.4(FANCM):c.3570C>A (p.Leu1190=)
|
rs766057000
|
0.00006
|
|
NM_020937.4(FANCM):c.5026G>A (p.Glu1676Lys)
|
rs769919966
|
0.00006
|
|
NM_020937.4(FANCM):c.59C>G (p.Ser20Cys)
|
rs199699785
|
0.00006
|
|
NM_021922.3(FANCE):c.1062T>C (p.Asp354=)
|
rs377505032
|
0.00006
|
|
NM_021922.3(FANCE):c.1278G>A (p.Met426Ile)
|
rs758380315
|
0.00006
|
|
NM_021922.3(FANCE):c.1509+8T>C
|
rs562092952
|
0.00006
|
|
NM_021922.3(FANCE):c.1608C>G (p.Pro536=)
|
rs370301848
|
0.00006
|
|
NM_021922.3(FANCE):c.552A>C (p.Pro184=)
|
rs138182352
|
0.00006
|
|
NM_021922.3(FANCE):c.901-20C>T
|
rs754828130
|
0.00006
|
|
NM_021922.3(FANCE):c.954A>G (p.Glu318=)
|
rs149719310
|
0.00006
|
|
NM_021922.3(FANCE):c.970-17C>A
|
rs758179752
|
0.00006
|
|
NM_023110.3(FGFR1):c.1186G>A (p.Val396Ile)
|
rs752627281
|
0.00006
|
|
NM_023110.3(FGFR1):c.1977+10G>A
|
rs770318743
|
0.00006
|
|
NM_023110.3(FGFR1):c.2049-13C>T
|
rs756845879
|
0.00006
|
|
NM_023110.3(FGFR1):c.358+18G>T
|
rs375458309
|
0.00006
|
|
NM_032043.3(BRIP1):c.1053A>G (p.Pro351=)
|
rs544977115
|
0.00006
|
|
NM_032043.3(BRIP1):c.1140+11G>A
|
rs369153270
|
0.00006
|
|
NM_032043.3(BRIP1):c.1176A>G (p.Leu392=)
|
rs550092661
|
0.00006
|
|
NM_032043.3(BRIP1):c.1356C>T (p.Asn452=)
|
rs730881640
|
0.00006
|
|
NM_032043.3(BRIP1):c.1629-3T>C
|
rs587780828
|
0.00006
|
|
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)
|
rs45437094
|
0.00006
|
|
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)
|
rs759031349
|
0.00006
|
|
NM_032444.4(SLX4):c.165C>T (p.Cys55=)
|
rs202030834
|
0.00006
|
|
NM_032444.4(SLX4):c.1896G>C (p.Gly632=)
|
rs200859735
|
0.00006
|
|
NM_032444.4(SLX4):c.2181C>T (p.Ser727=)
|
rs565391485
|
0.00006
|
|
NM_032444.4(SLX4):c.2424C>T (p.Cys808=)
|
rs774909246
|
0.00006
|
|
NM_032444.4(SLX4):c.2457G>A (p.Leu819=)
|
rs148026020
|
0.00006
|
|
NM_032444.4(SLX4):c.2655G>A (p.Pro885=)
|
rs564629312
|
0.00006
|
|
NM_032444.4(SLX4):c.2898G>A (p.Gln966=)
|
rs748700450
|
0.00006
|
|
NM_032444.4(SLX4):c.2949C>T (p.Tyr983=)
|
rs758944750
|
0.00006
|
|
NM_032444.4(SLX4):c.3138C>T (p.Arg1046=)
|
rs527904726
|
0.00006
|
|
NM_032444.4(SLX4):c.3684T>C (p.Ser1228=)
|
rs752040666
|
0.00006
|
|
NM_032444.4(SLX4):c.3738C>T (p.Ser1246=)
|
rs376232540
|
0.00006
|
|
NM_032444.4(SLX4):c.3844C>T (p.Leu1282=)
|
rs772652088
|
0.00006
|
|
NM_032444.4(SLX4):c.4335G>C (p.Arg1445=)
|
rs139377113
|
0.00006
|
|
NM_032444.4(SLX4):c.4530G>T (p.Leu1510=)
|
rs139254595
|
0.00006
|
|
NM_032444.4(SLX4):c.5178G>A (p.Ala1726=)
|
rs140666540
|
0.00006
|
|
NM_032444.4(SLX4):c.873G>A (p.Lys291=)
|
rs751904877
|
0.00006
|
|
NM_032444.4(SLX4):c.900A>G (p.Gln300=)
|
rs373867005
|
0.00006
|
|
NM_032634.4(PIGO):c.1392C>T (p.Ile464=)
|
rs149790500
|
0.00006
|
|
NM_032634.4(PIGO):c.1488G>A (p.Ala496=)
|
rs140004995
|
0.00006
|
|
NM_032634.4(PIGO):c.1662G>A (p.Leu554=)
|
rs369433160
|
0.00006
|
|
NM_032634.4(PIGO):c.1811G>A (p.Arg604His)
|
rs144507866
|
0.00006
|
|
NM_032634.4(PIGO):c.3141-15C>T
|
rs368599591
|
0.00006
|
|
NM_032634.4(PIGO):c.876G>A (p.Leu292=)
|
rs146908736
|
0.00006
|
|
NM_058216.3(RAD51C):c.336G>A (p.Gly112=)
|
rs746122031
|
0.00006
|
|
NM_058216.3(RAD51C):c.351A>G (p.Leu117=)
|
rs370986989
|
0.00006
|
|
NM_058216.3(RAD51C):c.813C>T (p.Ser271=)
|
rs376853755
|
0.00006
|
|
NM_058216.3(RAD51C):c.870T>A (p.Ile290=)
|
rs376402418
|
0.00006
|
|
NM_058216.3(RAD51C):c.967T>C (p.Leu323=)
|
rs747727600
|
0.00006
|
|
NM_130468.4(CHST14):c.447C>T (p.Phe149=)
|
rs761965484
|
0.00006
|
|
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg)
|
rs199546324
|
0.00006
|
|
NM_133433.4(NIPBL):c.2219G>A (p.Gly740Asp)
|
rs148420552
|
0.00006
|
|
NM_133433.4(NIPBL):c.3861C>T (p.Asn1287=)
|
rs531615496
|
0.00006
|
|
NM_133433.4(NIPBL):c.6589+9A>T
|
rs370709104
|
0.00006
|
|
NM_133433.4(NIPBL):c.7047T>C (p.Tyr2349=)
|
rs398124470
|
0.00006
|
|
NM_133433.4(NIPBL):c.7590A>G (p.Ser2530=)
|
rs1286310849
|
0.00006
|
|
NM_147127.5(EVC2):c.1478T>C (p.Val493Ala)
|
rs202210260
|
0.00006
|
|
NM_147127.5(EVC2):c.1677T>C (p.Ala559=)
|
rs761646676
|
0.00006
|
|
NM_147127.5(EVC2):c.192G>C (p.Pro64=)
|
rs777094897
|
0.00006
|
|
NM_147127.5(EVC2):c.2079C>T (p.Val693=)
|
rs201171209
|
0.00006
|
|
NM_147127.5(EVC2):c.2604C>T (p.Leu868=)
|
rs138672121
|
0.00006
|
|
NM_147127.5(EVC2):c.2829+9A>C
|
rs370232376
|
0.00006
|
|
NM_147127.5(EVC2):c.3837G>A (p.Lys1279=)
|
rs201651890
|
0.00006
|
|
NM_147127.5(EVC2):c.3864T>A (p.Pro1288=)
|
rs138166440
|
0.00006
|
|
NM_147127.5(EVC2):c.531G>A (p.Ser177=)
|
rs146658261
|
0.00006
|
|
NM_147127.5(EVC2):c.887G>C (p.Gly296Ala)
|
rs201083070
|
0.00006
|
|
NM_153717.3(EVC):c.1242C>T (p.Ser414=)
|
rs769206763
|
0.00006
|
|
NM_153717.3(EVC):c.1350G>A (p.Ala450=)
|
rs752575646
|
0.00006
|
|
NM_153717.3(EVC):c.1564-8C>T
|
rs373957181
|
0.00006
|
|
NM_153717.3(EVC):c.1692C>T (p.Asn564=)
|
rs138242443
|
0.00006
|
|
NM_153717.3(EVC):c.1980G>A (p.Thr660=)
|
rs537471996
|
0.00006
|
|
NM_153717.3(EVC):c.2349C>T (p.Ser783=)
|
rs138114051
|
0.00006
|
|
NM_153717.3(EVC):c.2550G>A (p.Ala850=)
|
rs754053651
|
0.00006
|
|
NM_153717.3(EVC):c.2868C>T (p.Ser956=)
|
rs757526901
|
0.00006
|
|
NM_153717.3(EVC):c.534C>A (p.Val178=)
|
rs774703104
|
0.00006
|
|
NM_153717.3(EVC):c.588C>T (p.Asn196=)
|
rs756994584
|
0.00006
|
|
NM_153717.3(EVC):c.940-150T>C
|
rs576076928
|
0.00006
|
|
NM_173660.5(DOK7):c.1014C>T (p.Ser338=)
|
rs768867580
|
0.00006
|
|
NM_173660.5(DOK7):c.1107G>A (p.Leu369=)
|
rs778918520
|
0.00006
|
|
NM_173660.5(DOK7):c.1170C>T (p.Pro390=)
|
rs199525739
|
0.00006
|
|
NM_173660.5(DOK7):c.532+9G>A
|
rs374795386
|
0.00006
|
|
NM_173660.5(DOK7):c.54+32G>C
|
rs763739780
|
0.00006
|
|
NM_173660.5(DOK7):c.639G>A (p.Arg213=)
|
rs1411499971
|
0.00006
|
|
NM_173660.5(DOK7):c.653-9C>G
|
rs1350076940
|
0.00006
|
|
NM_173660.5(DOK7):c.882G>A (p.Thr294=)
|
rs369425286
|
0.00006
|
|
NM_173660.5(DOK7):c.996C>T (p.Arg332=)
|
rs781199587
|
0.00006
|
|
NM_000079.4(CHRNA1):c.63C>T (p.Ser21=)
|
rs751313425
|
0.00005
|
|
NM_000135.4(FANCA):c.1359+16A>G
|
rs200016746
|
0.00005
|
|
NM_000135.4(FANCA):c.2015-5C>T
|
rs780349960
|
0.00005
|
|
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)
|
rs201589909
|
0.00005
|
|
NM_000135.4(FANCA):c.2152-13T>C
|
rs752105563
|
0.00005
|
|
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser)
|
rs751015814
|
0.00005
|
|
NM_000135.4(FANCA):c.2316+9C>G
|
rs776301232
|
0.00005
|
|
NM_000135.4(FANCA):c.2317-8C>T
|
rs753766357
|
0.00005
|
|
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile)
|
rs376302719
|
0.00005
|
|
NM_000135.4(FANCA):c.2778+10C>T
|
rs371786839
|
0.00005
|
|
NM_000135.4(FANCA):c.2779-11C>G
|
rs185392597
|
0.00005
|
|
NM_000135.4(FANCA):c.27C>T (p.Ser9=)
|
rs540584108
|
0.00005
|
|
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)
|
rs144171225
|
0.00005
|
|
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)
|
rs35566151
|
0.00005
|
|
NM_000135.4(FANCA):c.897C>T (p.Phe299=)
|
rs765341703
|
0.00005
|
|
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)
|
rs72552377
|
0.00005
|
|
NM_000136.3(FANCC):c.1425A>G (p.Thr475=)
|
rs199739450
|
0.00005
|
|
NM_000136.3(FANCC):c.1560C>T (p.His520=)
|
rs150020474
|
0.00005
|
|
NM_000136.3(FANCC):c.897-8T>C
|
rs878853673
|
0.00005
|
|
NM_000751.3(CHRND):c.225C>G (p.Thr75=)
|
rs146508326
|
0.00005
|
|
NM_000751.3(CHRND):c.582C>T (p.Pro194=)
|
rs773089899
|
0.00005
|
|
NM_000751.3(CHRND):c.849G>A (p.Ser283=)
|
rs749757968
|
0.00005
|
|
NM_001018113.3(FANCB):c.1838G>A (p.Arg613His)
|
rs144764663
|
0.00005
|
|
NM_001018113.3(FANCB):c.197C>T (p.Thr66Ile)
|
rs750180189
|
0.00005
|
|
NM_001018113.3(FANCB):c.388A>G (p.Met130Val)
|
rs776724055
|
0.00005
|
|
NM_001018115.3(FANCD2):c.1068T>C (p.Tyr356=)
|
rs531943246
|
0.00005
|
|
NM_001018115.3(FANCD2):c.183G>A (p.Thr61=)
|
rs771445756
|
0.00005
|
|
NM_001018115.3(FANCD2):c.2022-4G>A
|
rs748941966
|
0.00005
|
|
NM_001018115.3(FANCD2):c.3778-20C>T
|
rs751107447
|
0.00005
|
|
NM_001018115.3(FANCD2):c.3850-17G>T
|
rs369702202
|
0.00005
|
|
NM_001018115.3(FANCD2):c.696-11A>G
|
rs376488313
|
0.00005
|
|
NM_001113378.2(FANCI):c.1113-10G>C
|
rs756650711
|
0.00005
|
|
NM_001113378.2(FANCI):c.1248G>A (p.Gln416=)
|
rs998334333
|
0.00005
|
|
NM_001113378.2(FANCI):c.1704T>C (p.His568=)
|
rs200990786
|
0.00005
|
|
NM_001113378.2(FANCI):c.2946C>T (p.Ala982=)
|
rs762453164
|
0.00005
|
|
NM_001113378.2(FANCI):c.3007-7A>G
|
rs778906473
|
0.00005
|
|
NM_001113378.2(FANCI):c.3055C>T (p.Arg1019Trp)
|
rs149167939
|
0.00005
|
|
NM_001113378.2(FANCI):c.534C>T (p.Thr178=)
|
rs754733731
|
0.00005
|
|
NM_001271938.2(MEGF8):c.352-5C>T
|
rs180788941
|
0.00005
|
|
NM_001374353.1(GLI2):c.1701T>C (p.His567=)
|
rs370382506
|
0.00005
|
|
NM_001374353.1(GLI2):c.2598G>A (p.Pro866=)
|
rs772224406
|
0.00005
|
|
NM_001374353.1(GLI2):c.3405C>T (p.Gly1135=)
|
rs753450963
|
0.00005
|
|
NM_001429.4(EP300):c.1529-16T>C
|
rs1343155056
|
0.00005
|
|
NM_001429.4(EP300):c.1878+13T>C
|
rs200466416
|
0.00005
|
|
NM_001429.4(EP300):c.270C>T (p.Ser90=)
|
rs367583060
|
0.00005
|
|
NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser)
|
rs779792116
|
0.00005
|
|
NM_001429.4(EP300):c.4624A>G (p.Lys1542Glu)
|
rs374162524
|
0.00005
|
|
NM_001429.4(EP300):c.5391G>A (p.Gln1797=)
|
rs1014464615
|
0.00005
|
|
NM_001429.4(EP300):c.6922C>T (p.Arg2308Cys)
|
rs145312648
|
0.00005
|
|
NM_001999.4(FBN2):c.1078+9C>T
|
rs371692018
|
0.00005
|
|
NM_001999.4(FBN2):c.1885A>G (p.Asn629Asp)
|
rs863223554
|
0.00005
|
|
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met)
|
rs150506063
|
0.00005
|
|
NM_001999.4(FBN2):c.3249G>T (p.Met1083Ile)
|
rs146143173
|
0.00005
|
|
NM_001999.4(FBN2):c.3584G>A (p.Arg1195His)
|
rs751600209
|
0.00005
|
|
NM_001999.4(FBN2):c.3690A>G (p.Gly1230=)
|
rs774807410
|
0.00005
|
|
NM_001999.4(FBN2):c.4328A>T (p.Asp1443Val)
|
rs751400994
|
0.00005
|
|
NM_001999.4(FBN2):c.4773G>T (p.Leu1591=)
|
rs753387547
|
0.00005
|
|
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys)
|
rs778519094
|
0.00005
|
|
NM_001999.4(FBN2):c.5674+18T>G
|
rs199749609
|
0.00005
|
|
NM_002334.4(LRP4):c.1437C>T (p.Arg479=)
|
rs141108617
|
0.00005
|
|
NM_002334.4(LRP4):c.1779C>T (p.Ala593=)
|
rs202063944
|
0.00005
|
|
NM_002334.4(LRP4):c.3585C>T (p.Ser1195=)
|
rs148361325
|
0.00005
|
|
NM_002334.4(LRP4):c.3837C>T (p.Asp1279=)
|
rs779045515
|
0.00005
|
|
NM_002334.4(LRP4):c.4404T>C (p.Asn1468=)
|
rs752801557
|
0.00005
|
|
NM_002334.4(LRP4):c.4584-15T>C
|
rs777314555
|
0.00005
|
|
NM_002334.4(LRP4):c.5556C>T (p.Ala1852=)
|
rs200514161
|
0.00005
|
|
NM_002334.4(LRP4):c.922+13G>A
|
rs771013783
|
0.00005
|
|
NM_002968.3(SALL1):c.484G>A (p.Gly162Ser)
|
rs754902005
|
0.00005
|
|
NM_003289.4(TPM2):c.564-18_564-17insA
|
rs1554658810
|
0.00005
|
|
NM_003334.4(UBA1):c.1233+8C>T
|
rs1178927745
|
0.00005
|
|
NM_004380.3(CREBBP):c.1514C>T (p.Pro505Leu)
|
rs369550568
|
0.00005
|
|
NM_004380.3(CREBBP):c.1854C>T (p.Pro618=)
|
rs61754522
|
0.00005
|
|
NM_004380.3(CREBBP):c.7272G>T (p.Leu2424=)
|
rs375448134
|
0.00005
|
|
NM_004629.2(FANCG):c.1158C>G (p.Pro386=)
|
rs201041980
|
0.00005
|
|
NM_004629.2(FANCG):c.1636+20G>A
|
rs369348926
|
0.00005
|
|
NM_004629.2(FANCG):c.933T>C (p.Asn311=)
|
rs1283707202
|
0.00005
|
|
NM_005592.4(MUSK):c.1259G>A (p.Gly420Glu)
|
rs373421409
|
0.00005
|
|
NM_005592.4(MUSK):c.1542T>G (p.Thr514=)
|
rs762656586
|
0.00005
|
|
NM_005592.4(MUSK):c.1674G>A (p.Pro558=)
|
rs541645382
|
0.00005
|
|
NM_005592.4(MUSK):c.1862C>T (p.Ala621Val)
|
rs777853943
|
0.00005
|
|
NM_005592.4(MUSK):c.206+9T>C
|
rs753218110
|
0.00005
|
|
NM_005592.4(MUSK):c.486+12T>A
|
rs757179369
|
0.00005
|
|
NM_005592.4(MUSK):c.885C>T (p.Ala295=)
|
rs756029372
|
0.00005
|
|
NM_006306.4(SMC1A):c.2646G>A (p.Ser882=)
|
rs1193658492
|
0.00005
|
|
NM_006306.4(SMC1A):c.3063C>T (p.Ala1021=)
|
rs202083908
|
0.00005
|
|
NM_012243.3(SLC35A3):c.754-10A>T
|
rs765112592
|
0.00005
|
|
NM_016277.5(RAB23):c.123C>T (p.Thr41=)
|
rs759408401
|
0.00005
|
|
NM_017617.5(NOTCH1):c.1125A>G (p.Ala375=)
|
rs371954544
|
0.00005
|
|
NM_017617.5(NOTCH1):c.1670-8C>T
|
rs527374781
|
0.00005
|
|
NM_017617.5(NOTCH1):c.219A>G (p.Thr73=)
|
rs759781673
|
0.00005
|
|
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=)
|
rs199719103
|
0.00005
|
|
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=)
|
rs561956078
|
0.00005
|
|
NM_017617.5(NOTCH1):c.2744C>T (p.Pro915Leu)
|
rs755058802
|
0.00005
|
|
NM_017617.5(NOTCH1):c.3326-16A>T
|
rs374731388
|
0.00005
|
|
NM_017617.5(NOTCH1):c.3326-4G>A
|
rs773638417
|
0.00005
|
|
NM_017617.5(NOTCH1):c.4027G>A (p.Ala1343Thr)
|
rs369654090
|
0.00005
|
|
NM_017617.5(NOTCH1):c.5091C>T (p.Thr1697=)
|
rs775882968
|
0.00005
|
|
NM_017617.5(NOTCH1):c.5100C>T (p.Ala1700=)
|
rs376495459
|
0.00005
|
|
NM_017617.5(NOTCH1):c.5183C>T (p.Pro1728Leu)
|
rs766358616
|
0.00005
|
|
NM_017617.5(NOTCH1):c.5373C>T (p.Ser1791=)
|
rs777013344
|
0.00005
|
|
NM_017617.5(NOTCH1):c.5765A>G (p.Asn1922Ser)
|
rs765708087
|
0.00005
|
|
NM_017617.5(NOTCH1):c.6090C>T (p.Ser2030=)
|
rs773621396
|
0.00005
|
|
NM_017617.5(NOTCH1):c.61+7G>T
|
rs753396547
|
0.00005
|
|
NM_017617.5(NOTCH1):c.6181-15G>A
|
rs375436198
|
0.00005
|
|
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)
|
rs567909904
|
0.00005
|
|
NM_017617.5(NOTCH1):c.6941T>C (p.Leu2314Pro)
|
rs200929799
|
0.00005
|
|
NM_017617.5(NOTCH1):c.7356G>A (p.Ala2452=)
|
rs781520893
|
0.00005
|
|
NM_017617.5(NOTCH1):c.7366A>G (p.Ile2456Val)
|
rs777934565
|
0.00005
|
|
NM_017617.5(NOTCH1):c.7398G>A (p.Thr2466=)
|
rs775056799
|
0.00005
|
|
NM_017617.5(NOTCH1):c.743-4G>T
|
rs748001079
|
0.00005
|
|
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=)
|
rs201158068
|
0.00005
|
|
NM_018062.4(FANCL):c.261G>A (p.Leu87=)
|
rs1049409962
|
0.00005
|
|
NM_018062.4(FANCL):c.374+18_374+29del
|
rs775890254
|
0.00005
|
|
NM_018486.3(HDAC8):c.629-14C>T
|
rs1164078285
|
0.00005
|
|
NM_020937.4(FANCM):c.2161-18A>G
|
rs780042399
|
0.00005
|
|
NM_020937.4(FANCM):c.3777A>G (p.Leu1259=)
|
rs759051559
|
0.00005
|
|
NM_020937.4(FANCM):c.4387-13C>T
|
rs548622939
|
0.00005
|
|
NM_020937.4(FANCM):c.4776G>A (p.Ser1592=)
|
rs964884247
|
0.00005
|
|
NM_020937.4(FANCM):c.523T>C (p.Ser175Pro)
|
rs779858649
|
0.00005
|
|
NM_021922.3(FANCE):c.210G>A (p.Glu70=)
|
rs1008512809
|
0.00005
|
|
NM_021922.3(FANCE):c.861G>A (p.Gln287=)
|
rs772248459
|
0.00005
|
|
NM_022725.4(FANCF):c.372C>G (p.Ala124=)
|
rs199705194
|
0.00005
|
|
NM_022725.4(FANCF):c.537G>A (p.Lys179=)
|
rs772589448
|
0.00005
|
|
NM_022725.4(FANCF):c.873A>G (p.Lys291=)
|
rs757578045
|
0.00005
|
|
NM_023110.3(FGFR1):c.350A>G (p.Asn117Ser)
|
rs780765366
|
0.00005
|
|
NM_023110.3(FGFR1):c.745+7G>A
|
rs202096944
|
0.00005
|
|
NM_023110.3(FGFR1):c.937-6T>G
|
rs374904700
|
0.00005
|
|
NM_032043.3(BRIP1):c.1936-4C>T
|
rs587780552
|
0.00005
|
|
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)
|
rs764848326
|
0.00005
|
|
NM_032444.4(SLX4):c.1924+9C>T
|
rs767533009
|
0.00005
|
|
NM_032444.4(SLX4):c.1932C>T (p.Asp644=)
|
rs562351012
|
0.00005
|
|
NM_032444.4(SLX4):c.1941C>T (p.Pro647=)
|
rs540288743
|
0.00005
|
|
NM_032444.4(SLX4):c.2100G>A (p.Gly700=)
|
rs755000337
|
0.00005
|
|
NM_032444.4(SLX4):c.2112C>T (p.Tyr704=)
|
rs566797597
|
0.00005
|
|
NM_032444.4(SLX4):c.237T>C (p.Ala79=)
|
rs375620914
|
0.00005
|
|
NM_032444.4(SLX4):c.3801T>C (p.Arg1267=)
|
rs772673695
|
0.00005
|
|
NM_032444.4(SLX4):c.4716G>A (p.Pro1572=)
|
rs372472816
|
0.00005
|
|
NM_032444.4(SLX4):c.621A>G (p.Gln207=)
|
rs747450611
|
0.00005
|
|
NM_032634.4(PIGO):c.1554A>G (p.Ala518=)
|
rs373701949
|
0.00005
|
|
NM_032634.4(PIGO):c.2562C>T (p.Arg854=)
|
rs780108725
|
0.00005
|
|
NM_130468.4(CHST14):c.1119G>A (p.Ala373=)
|
rs149555952
|
0.00005
|
|
NM_133433.4(NIPBL):c.1896G>C (p.Glu632Asp)
|
rs751913459
|
0.00005
|
|
NM_147127.5(EVC2):c.126C>T (p.Leu42=)
|
rs781009014
|
0.00005
|
|
NM_147127.5(EVC2):c.2076C>T (p.Ser692=)
|
rs138556477
|
0.00005
|
|
NM_147127.5(EVC2):c.2157C>T (p.Ala719=)
|
rs777141609
|
0.00005
|
|
NM_147127.5(EVC2):c.2556G>A (p.Arg852=)
|
rs762781823
|
0.00005
|
|
NM_147127.5(EVC2):c.3094C>T (p.Leu1032=)
|
rs777897646
|
0.00005
|
|
NM_147127.5(EVC2):c.669G>A (p.Ser223=)
|
rs143697185
|
0.00005
|
|
NM_147127.5(EVC2):c.707-20_707-19del
|
rs777343377
|
0.00005
|
|
NM_147127.5(EVC2):c.948C>T (p.Ala316=)
|
rs376050796
|
0.00005
|
|
NM_153717.3(EVC):c.107C>G (p.Ala36Gly)
|
rs1219807707
|
0.00005
|
|
NM_153717.3(EVC):c.1152T>C (p.Phe384=)
|
rs574038265
|
0.00005
|
|
NM_153717.3(EVC):c.1962C>T (p.Asn654=)
|
rs189626383
|
0.00005
|
|
NM_153717.3(EVC):c.2010C>T (p.Leu670=)
|
rs369722491
|
0.00005
|
|
NM_153717.3(EVC):c.2961G>A (p.Lys987=)
|
rs138808610
|
0.00005
|
|
NM_153717.3(EVC):c.312G>A (p.Pro104=)
|
rs763930196
|
0.00005
|
|
NM_153717.3(EVC):c.549C>T (p.Ser183=)
|
rs201071908
|
0.00005
|
|
NM_173660.5(DOK7):c.201C>T (p.Pro67=)
|
rs770153614
|
0.00005
|
|
NM_173660.5(DOK7):c.331+16C>T
|
rs577280323
|
0.00005
|
|
NM_173660.5(DOK7):c.378C>T (p.Ser126=)
|
rs753043554
|
0.00005
|
|
NM_173660.5(DOK7):c.653-18G>C
|
rs762076600
|
0.00005
|
|
NM_173660.5(DOK7):c.822C>T (p.Asp274=)
|
rs141732576
|
0.00005
|
|
NM_000079.4(CHRNA1):c.111C>T (p.Ser37=)
|
rs886055151
|
0.00004
|
|
NM_000079.4(CHRNA1):c.144C>T (p.Val48=)
|
rs766106058
|
0.00004
|
|
NM_000079.4(CHRNA1):c.189+16T>A
|
rs1419917128
|
0.00004
|
|
NM_000079.4(CHRNA1):c.235-18G>A
|
rs1162280178
|
0.00004
|
|
NM_000079.4(CHRNA1):c.345-10C>T
|
rs775001526
|
0.00004
|
|
NM_000079.4(CHRNA1):c.536A>G (p.Asn179Ser)
|
rs772271812
|
0.00004
|
|
NM_000079.4(CHRNA1):c.675C>T (p.Phe225=)
|
rs531534298
|
0.00004
|
|
NM_000079.4(CHRNA1):c.750C>T (p.Gly250=)
|
rs186607397
|
0.00004
|
|
NM_000135.4(FANCA):c.1007-6C>T
|
rs770125368
|
0.00004
|
|
NM_000135.4(FANCA):c.1008A>G (p.Ala336=)
|
rs1460026241
|
0.00004
|
|
NM_000135.4(FANCA):c.1360-19C>T
|
rs766723015
|
0.00004
|
|
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys)
|
rs200291237
|
0.00004
|
|
NM_000135.4(FANCA):c.1715+16G>A
|
rs752140435
|
0.00004
|
|
NM_000135.4(FANCA):c.1731T>G (p.Pro577=)
|
rs770851966
|
0.00004
|
|
NM_000135.4(FANCA):c.1777-13T>C
|
rs368496868
|
0.00004
|
|
NM_000135.4(FANCA):c.1777-15C>G
|
rs371919426
|
0.00004
|
|
NM_000135.4(FANCA):c.1887A>G (p.Glu629=)
|
rs769662954
|
0.00004
|
|
NM_000135.4(FANCA):c.189+7G>A
|
rs369985388
|
0.00004
|
|
NM_000135.4(FANCA):c.1929C>G (p.Pro643=)
|
rs1360940645
|
0.00004
|
|
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)
|
rs537923341
|
0.00004
|
|
NM_000135.4(FANCA):c.2088C>T (p.Ser696=)
|
rs150917432
|
0.00004
|
|
NM_000135.4(FANCA):c.2090T>C (p.Val697Ala)
|
rs777863668
|
0.00004
|
|
NM_000135.4(FANCA):c.2222+14C>T
|
rs368973617
|
0.00004
|
|
NM_000135.4(FANCA):c.2277T>G (p.Pro759=)
|
rs370053960
|
0.00004
|
|
NM_000135.4(FANCA):c.2371C>T (p.Leu791=)
|
rs541949982
|
0.00004
|
|
NM_000135.4(FANCA):c.23A>G (p.Asn8Ser)
|
rs757468756
|
0.00004
|
|
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)
|
rs370085403
|
0.00004
|
|
NM_000135.4(FANCA):c.2602-16T>G
|
rs762865666
|
0.00004
|
|
NM_000135.4(FANCA):c.2982-15G>A
|
rs55718325
|
0.00004
|
|
NM_000135.4(FANCA):c.2982-8C>G
|
rs781331325
|
0.00004
|
|
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)
|
rs200022826
|
0.00004
|
|
NM_000135.4(FANCA):c.3239+7C>T
|
rs775293779
|
0.00004
|
|
NM_000135.4(FANCA):c.3261G>A (p.Ser1087=)
|
rs139126509
|
0.00004
|
|
NM_000135.4(FANCA):c.3409-6C>T
|
rs377428227
|
0.00004
|
|
NM_000135.4(FANCA):c.3434G>A (p.Ser1145Asn)
|
rs375630115
|
0.00004
|
|
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)
|
rs762837582
|
0.00004
|
|
NM_000135.4(FANCA):c.3552G>A (p.Arg1184=)
|
rs774029286
|
0.00004
|
|
NM_000135.4(FANCA):c.3669C>T (p.Asp1223=)
|
rs187074190
|
0.00004
|
|
NM_000135.4(FANCA):c.3693C>T (p.His1231=)
|
rs144524132
|
0.00004
|
|
NM_000135.4(FANCA):c.4084T>C (p.Leu1362=)
|
rs775351812
|
0.00004
|
|
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu)
|
rs760814763
|
0.00004
|
|
NM_000135.4(FANCA):c.4233G>A (p.Pro1411=)
|
rs368985041
|
0.00004
|
|
NM_000135.4(FANCA):c.4284C>T (p.Cys1428=)
|
rs367630825
|
0.00004
|
|
NM_000135.4(FANCA):c.498C>T (p.Phe166=)
|
rs757941026
|
0.00004
|
|
NM_000135.4(FANCA):c.596+6G>A
|
rs369548513
|
0.00004
|
|
NM_000135.4(FANCA):c.793-9T>C
|
rs757500718
|
0.00004
|
|
NM_000135.4(FANCA):c.826+13C>G
|
rs34240625
|
0.00004
|
|
NM_000135.4(FANCA):c.827-6C>G
|
rs756991336
|
0.00004
|
|
NM_000135.4(FANCA):c.894-15C>T
|
rs753166995
|
0.00004
|
|
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)
|
rs764121307
|
0.00004
|
|
NM_000135.4(FANCA):c.957C>G (p.Phe319Leu)
|
rs17226068
|
0.00004
|
|
NM_000135.4(FANCA):c.984C>T (p.Leu328=)
|
rs907022035
|
0.00004
|
|
NM_000136.3(FANCC):c.-18C>G
|
rs762660689
|
0.00004
|
|
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp)
|
rs140348260
|
0.00004
|
|
NM_000136.3(FANCC):c.1073-4G>A
|
rs147695697
|
0.00004
|
|
NM_000136.3(FANCC):c.1623T>G (p.Pro541=)
|
rs375362894
|
0.00004
|
|
NM_000136.3(FANCC):c.250+15C>T
|
rs200138313
|
0.00004
|
|
NM_000136.3(FANCC):c.457-12T>A
|
rs188659251
|
0.00004
|
|
NM_000751.3(CHRND):c.1253-10T>G
|
rs199508773
|
0.00004
|
|
NM_000751.3(CHRND):c.390C>T (p.Asn130=)
|
rs55700159
|
0.00004
|
|
NM_000751.3(CHRND):c.620-9C>T
|
rs112019415
|
0.00004
|
|
NM_001018113.3(FANCB):c.1323G>A (p.Glu441=)
|
rs1015824799
|
0.00004
|
|
NM_001018113.3(FANCB):c.162A>G (p.Thr54=)
|
rs748284861
|
0.00004
|
|
NM_001018113.3(FANCB):c.493G>C (p.Gly165Arg)
|
rs146131050
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1134+10A>G
|
rs758751922
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1657-15A>G
|
rs753419823
|
0.00004
|
|
NM_001018115.3(FANCD2):c.1740C>T (p.Thr580=)
|
rs200041772
|
0.00004
|
|
NM_001018115.3(FANCD2):c.2058G>A (p.Leu686=)
|
rs773593671
|
0.00004
|
|
NM_001018115.3(FANCD2):c.274-6_274-4del
|
rs762278011
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3106-13T>G
|
rs759732362
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3193C>T (p.Leu1065=)
|
rs1267933900
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3276T>C (p.His1092=)
|
rs773833838
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3483A>G (p.Gln1161=)
|
rs143403347
|
0.00004
|
|
NM_001018115.3(FANCD2):c.3735G>A (p.Thr1245=)
|
rs750130327
|
0.00004
|
|
NM_001018115.3(FANCD2):c.4186-5T>C
|
rs763801603
|
0.00004
|
|
NM_001018115.3(FANCD2):c.695+19A>G
|
rs369890094
|
0.00004
|
|
NM_001113378.2(FANCI):c.1113-11T>C
|
rs112986525
|
0.00004
|
|
NM_001113378.2(FANCI):c.1146C>T (p.Leu382=)
|
rs773475822
|
0.00004
|
|
NM_001113378.2(FANCI):c.1200T>C (p.Asp400=)
|
rs763959132
|
0.00004
|
|
NM_001113378.2(FANCI):c.157+7A>G
|
rs145165730
|
0.00004
|
|
NM_001113378.2(FANCI):c.2097C>T (p.Tyr699=)
|
rs148415946
|
0.00004
|
|
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=)
|
rs139857614
|
0.00004
|
|
NM_001113378.2(FANCI):c.2685G>A (p.Ser895=)
|
rs145665176
|
0.00004
|
|
NM_001113378.2(FANCI):c.277C>T (p.Leu93=)
|
rs995731282
|
0.00004
|
|
NM_001113378.2(FANCI):c.2856T>A (p.Thr952=)
|
rs368915464
|
0.00004
|
|
NM_001113378.2(FANCI):c.3006+10C>T
|
rs753914878
|
0.00004
|
|
NM_001113378.2(FANCI):c.3720+10T>C
|
rs756636181
|
0.00004
|
|
NM_001113378.2(FANCI):c.3721-15G>A
|
rs552581027
|
0.00004
|
|
NM_001113378.2(FANCI):c.445+14G>A
|
rs762378388
|
0.00004
|
|
NM_001113378.2(FANCI):c.883-16_883-15del
|
rs763087620
|
0.00004
|
|
NM_001113378.2(FANCI):c.993G>A (p.Lys331=)
|
rs146916445
|
0.00004
|
|
NM_001113525.2(ZNF276):c.*2548T>C
|
rs368372404
|
0.00004
|
|
NM_001271938.2(MEGF8):c.3350+11C>T
|
rs201865376
|
0.00004
|
|
NM_001271938.2(MEGF8):c.3957C>A (p.Thr1319=)
|
rs754753739
|
0.00004
|
|
NM_001271938.2(MEGF8):c.3990C>T (p.Pro1330=)
|
rs141015952
|
0.00004
|
|
NM_001271938.2(MEGF8):c.4416C>T (p.Ala1472=)
|
rs139822806
|
0.00004
|
|
NM_001271938.2(MEGF8):c.6059-18C>A
|
rs565505835
|
0.00004
|
|
NM_001271938.2(MEGF8):c.6274-8C>G
|
rs543093080
|
0.00004
|
|
NM_001271938.2(MEGF8):c.6588C>T (p.His2196=)
|
rs751105144
|
0.00004
|
|
NM_001271938.2(MEGF8):c.7893C>T (p.Ala2631=)
|
rs150486662
|
0.00004
|
|
NM_001346754.2(PIGW):c.1065C>T (p.Tyr355=)
|
rs776190334
|
0.00004
|
|
NM_001374353.1(GLI2):c.1095C>T (p.Thr365=)
|
rs374705620
|
0.00004
|
|
NM_001374353.1(GLI2):c.1158G>A (p.Pro386=)
|
rs141647925
|
0.00004
|
|
NM_001374353.1(GLI2):c.1293C>T (p.Tyr431=)
|
rs768259857
|
0.00004
|
|
NM_001374353.1(GLI2):c.1633-4C>G
|
rs377701321
|
0.00004
|
|
NM_001374353.1(GLI2):c.1815T>C (p.Pro605=)
|
rs146766721
|
0.00004
|
|
NM_001374353.1(GLI2):c.1906-11G>A
|
rs769187484
|
0.00004
|
|
NM_001374353.1(GLI2):c.2061C>T (p.Ala687=)
|
rs374564316
|
0.00004
|
|
NM_001374353.1(GLI2):c.2089G>A (p.Ala697Thr)
|
rs553780090
|
0.00004
|
|
NM_001374353.1(GLI2):c.2667G>C (p.Pro889=)
|
rs767130064
|
0.00004
|
|
NM_001374353.1(GLI2):c.3489T>C (p.Phe1163=)
|
rs766031476
|
0.00004
|
|
NM_001374353.1(GLI2):c.402C>T (p.His134=)
|
rs200675247
|
0.00004
|
|
NM_001374353.1(GLI2):c.4571C>A (p.Ser1524Tyr)
|
rs199887024
|
0.00004
|
|
NM_001374353.1(GLI2):c.495C>T (p.Gly165=)
|
rs193062450
|
0.00004
|
|
NM_001374353.1(GLI2):c.606C>T (p.Ser202=)
|
rs146181686
|
0.00004
|
|
NM_001374353.1(GLI2):c.846-18G>A
|
rs765320072
|
0.00004
|
|
NM_001429.4(EP300):c.1760+20C>T
|
rs368767822
|
0.00004
|
|
NM_001429.4(EP300):c.2367T>C (p.Ala789=)
|
rs759989339
|
0.00004
|
|
NM_001429.4(EP300):c.2419A>G (p.Ile807Val)
|
rs201054979
|
0.00004
|
|
NM_001429.4(EP300):c.5028T>C (p.His1676=)
|
rs747152661
|
0.00004
|
|
NM_001429.4(EP300):c.6923G>A (p.Arg2308His)
|
rs759647202
|
0.00004
|
|
NM_001429.4(EP300):c.7140A>G (p.Pro2380=)
|
rs543339090
|
0.00004
|
|
NM_001429.4(EP300):c.729+20G>T
|
rs777496736
|
0.00004
|
|
NM_001429.4(EP300):c.781C>T (p.Pro261Ser)
|
rs753462821
|
0.00004
|
|
NM_001999.4(FBN2):c.1078+12A>C
|
rs769211487
|
0.00004
|
|
NM_001999.4(FBN2):c.1140G>A (p.Pro380=)
|
rs532059159
|
0.00004
|
|
NM_001999.4(FBN2):c.1195G>A (p.Gly399Arg)
|
rs142228933
|
0.00004
|
|
NM_001999.4(FBN2):c.1968T>C (p.Cys656=)
|
rs750685055
|
0.00004
|
|
NM_001999.4(FBN2):c.202G>T (p.Ala68Ser)
|
rs767317022
|
0.00004
|
|
NM_001999.4(FBN2):c.2358C>T (p.Asn786=)
|
rs371981691
|
0.00004
|
|
NM_001999.4(FBN2):c.2555-6T>C
|
rs376507178
|
0.00004
|
|
NM_001999.4(FBN2):c.2812+7G>A
|
rs373320057
|
0.00004
|
|
NM_001999.4(FBN2):c.3393C>T (p.Cys1131=)
|
rs760695805
|
0.00004
|
|
NM_001999.4(FBN2):c.3511G>A (p.Gly1171Ser)
|
rs775844150
|
0.00004
|
|
NM_001999.4(FBN2):c.3701C>T (p.Thr1234Met)
|
rs368105987
|
0.00004
|
|
NM_001999.4(FBN2):c.377G>A (p.Arg126His)
|
rs528614556
|
0.00004
|
|
NM_001999.4(FBN2):c.3805A>G (p.Ser1269Gly)
|
rs765649978
|
0.00004
|
|
NM_001999.4(FBN2):c.3920G>A (p.Arg1307His)
|
rs139428175
|
0.00004
|
|
NM_001999.4(FBN2):c.4222+10C>A
|
rs376700480
|
0.00004
|
|
NM_001999.4(FBN2):c.4297C>T (p.Arg1433Cys)
|
rs374493286
|
0.00004
|
|
NM_001999.4(FBN2):c.4724G>A (p.Arg1575His)
|
rs776040052
|
0.00004
|
|
NM_001999.4(FBN2):c.5200+11A>C
|
rs863223545
|
0.00004
|
|
NM_001999.4(FBN2):c.5681A>G (p.Asn1894Ser)
|
rs750837082
|
0.00004
|
|
NM_001999.4(FBN2):c.5847A>G (p.Lys1949=)
|
rs751378266
|
0.00004
|
|
NM_001999.4(FBN2):c.6073G>A (p.Gly2025Ser)
|
rs772994944
|
0.00004
|
|
NM_001999.4(FBN2):c.6293-8T>A
|
rs375682913
|
0.00004
|
|
NM_001999.4(FBN2):c.645G>A (p.Pro215=)
|
rs764473594
|
0.00004
|
|
NM_001999.4(FBN2):c.704C>T (p.Thr235Met)
|
rs367767903
|
0.00004
|
|
NM_001999.4(FBN2):c.7339G>A (p.Gly2447Arg)
|
rs764998447
|
0.00004
|
|
NM_001999.4(FBN2):c.7719C>T (p.Asn2573=)
|
rs746265117
|
0.00004
|
|
NM_001999.4(FBN2):c.7878C>T (p.His2626=)
|
rs587780943
|
0.00004
|
|
NM_001999.4(FBN2):c.8168C>T (p.Pro2723Leu)
|
rs746473847
|
0.00004
|
|
NM_001999.4(FBN2):c.8193-13T>C
|
rs376023293
|
0.00004
|
|
NM_001999.4(FBN2):c.8193-19C>T
|
rs771472324
|
0.00004
|
|
NM_001999.4(FBN2):c.8406C>T (p.Pro2802=)
|
rs764836656
|
0.00004
|
|
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr)
|
rs757028268
|
0.00004
|
|
NM_001999.4(FBN2):c.8678A>T (p.Asp2893Val)
|
rs863223615
|
0.00004
|
|
NM_001999.4(FBN2):c.968G>A (p.Ser323Asn)
|
rs747748647
|
0.00004
|
|
NM_002334.4(LRP4):c.1086C>T (p.Asn362=)
|
rs556905132
|
0.00004
|
|
NM_002334.4(LRP4):c.1308G>A (p.Leu436=)
|
rs750627555
|
0.00004
|
|
NM_002334.4(LRP4):c.132C>T (p.Cys44=)
|
rs760552036
|
0.00004
|
|
NM_002334.4(LRP4):c.1668C>T (p.Pro556=)
|
rs766741394
|
0.00004
|
|
NM_002334.4(LRP4):c.1932C>T (p.Phe644=)
|
rs1011484252
|
0.00004
|
|
NM_002334.4(LRP4):c.2093-16T>C
|
rs751168409
|
0.00004
|
|
NM_002334.4(LRP4):c.2202C>T (p.His734=)
|
rs757999800
|
0.00004
|
|
NM_002334.4(LRP4):c.2358C>T (p.His786=)
|
rs371677748
|
0.00004
|
|
NM_002334.4(LRP4):c.2535A>C (p.Thr845=)
|
rs145557677
|
0.00004
|
|
NM_002334.4(LRP4):c.2766C>T (p.Ala922=)
|
rs773599397
|
0.00004
|
|
NM_002334.4(LRP4):c.3459G>A (p.Leu1153=)
|
rs768821263
|
0.00004
|
|
NM_002334.4(LRP4):c.4245C>T (p.Asn1415=)
|
rs185084650
|
0.00004
|
|
NM_002334.4(LRP4):c.4665T>C (p.His1555=)
|
rs145206396
|
0.00004
|
|
NM_002334.4(LRP4):c.5001G>A (p.Lys1667=)
|
rs780329570
|
0.00004
|
|
NM_002334.4(LRP4):c.5088-20C>T
|
rs370004451
|
0.00004
|
|
NM_002334.4(LRP4):c.53-7C>T
|
rs745407997
|
0.00004
|
|
NM_002334.4(LRP4):c.5586G>A (p.Thr1862=)
|
rs751494811
|
0.00004
|
|
NM_002334.4(LRP4):c.933A>G (p.Gln311=)
|
rs375108263
|
0.00004
|
|
NM_002968.3(SALL1):c.2565T>G (p.Pro855=)
|
rs778734691
|
0.00004
|
|
NM_002968.3(SALL1):c.3231C>T (p.Pro1077=)
|
rs148808830
|
0.00004
|
|
NM_002968.3(SALL1):c.3327G>A (p.Pro1109=)
|
rs375357921
|
0.00004
|
|
NM_002968.3(SALL1):c.3957G>A (p.Lys1319=)
|
rs1366906259
|
0.00004
|
|
NM_003289.4(TPM2):c.374+9G>C
|
rs200730708
|
0.00004
|
|
NM_003289.4(TPM2):c.773-10_773-9insG
|
rs780351083
|
0.00004
|
|
NM_003334.4(UBA1):c.1400G>A (p.Gly467Asp)
|
rs201504752
|
0.00004
|
|
NM_003334.4(UBA1):c.411G>A (p.Glu137=)
|
rs782009712
|
0.00004
|
|
NM_003334.4(UBA1):c.423T>C (p.Tyr141=)
|
rs782435953
|
0.00004
|
|
NM_004380.3(CREBBP):c.1275T>C (p.His425=)
|
rs758886547
|
0.00004
|
|
NM_004380.3(CREBBP):c.2413G>A (p.Ala805Thr)
|
rs370128808
|
0.00004
|
|
NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu)
|
rs150767375
|
0.00004
|
|
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)
|
rs771016864
|
0.00004
|
|
NM_004380.3(CREBBP):c.2668A>C (p.Thr890Pro)
|
rs370012973
|
0.00004
|
|
NM_004380.3(CREBBP):c.3060+9C>T
|
rs372291994
|
0.00004
|
|
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met)
|
rs766085073
|
0.00004
|
|
NM_004380.3(CREBBP):c.594T>C (p.Ile198=)
|
rs1376107928
|
0.00004
|
|
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val)
|
rs771420935
|
0.00004
|
|
NM_004380.3(CREBBP):c.6723A>G (p.Pro2241=)
|
rs769325049
|
0.00004
|
|
NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=)
|
rs748072121
|
0.00004
|
|
NM_004380.3(CREBBP):c.69G>A (p.Ser23=)
|
rs766095612
|
0.00004
|
|
NM_004380.3(CREBBP):c.711C>T (p.Ser237=)
|
rs146049063
|
0.00004
|
|
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=)
|
rs745992971
|
0.00004
|
|
NM_004629.2(FANCG):c.1521G>A (p.Ala507=)
|
rs373411028
|
0.00004
|
|
NM_004629.2(FANCG):c.18C>T (p.Thr6=)
|
rs777459203
|
0.00004
|
|
NM_004629.2(FANCG):c.366G>C (p.Trp122Cys)
|
rs546023787
|
0.00004
|
|
NM_004629.2(FANCG):c.795A>T (p.Ala265=)
|
rs537570311
|
0.00004
|
|
NM_005055.5(RAPSN):c.216G>A (p.Thr72=)
|
rs141877523
|
0.00004
|
|
NM_005055.5(RAPSN):c.690+19G>A
|
rs183974908
|
0.00004
|
|
NM_005055.5(RAPSN):c.708G>A (p.Ala236=)
|
rs770777539
|
0.00004
|
|
NM_005236.3(ERCC4):c.1269T>C (p.Tyr423=)
|
rs144305111
|
0.00004
|
|
NM_005236.3(ERCC4):c.1415C>T (p.Pro472Leu)
|
rs572439259
|
0.00004
|
|
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=)
|
rs763332387
|
0.00004
|
|
NM_005236.3(ERCC4):c.2430G>A (p.Ala810=)
|
rs770255135
|
0.00004
|
|
NM_005236.3(ERCC4):c.2466G>A (p.Gln822=)
|
rs757316495
|
0.00004
|
|
NM_005236.3(ERCC4):c.2700C>T (p.Phe900=)
|
rs191674905
|
0.00004
|
|
NM_005236.3(ERCC4):c.906T>C (p.Asp302=)
|
rs148003381
|
0.00004
|
|
NM_005445.4(SMC3):c.2268+4C>T
|
rs587784426
|
0.00004
|
|
NM_005445.4(SMC3):c.507C>T (p.Asp169=)
|
rs370909218
|
0.00004
|
|
NM_005592.4(MUSK):c.1323T>C (p.His441=)
|
rs369015815
|
0.00004
|
|
NM_005592.4(MUSK):c.1522G>A (p.Val508Met)
|
rs769267043
|
0.00004
|
|
NM_005592.4(MUSK):c.2098G>A (p.Ala700Thr)
|
rs547450130
|
0.00004
|
|
NM_005592.4(MUSK):c.2403G>A (p.Gln801=)
|
rs372194698
|
0.00004
|
|
NM_005592.4(MUSK):c.358+19C>T
|
rs376236950
|
0.00004
|
|
NM_005592.4(MUSK):c.397A>G (p.Ile133Val)
|
rs570136508
|
0.00004
|
|
NM_005592.4(MUSK):c.453A>G (p.Ser151=)
|
rs373961420
|
0.00004
|
|
NM_005592.4(MUSK):c.486+15T>C
|
rs369902312
|
0.00004
|
|
NM_006265.3(RAD21):c.1221A>G (p.Gly407=)
|
rs147090806
|
0.00004
|
|
NM_006265.3(RAD21):c.1471-3A>G
|
rs202098276
|
0.00004
|
|
NM_006265.3(RAD21):c.393G>A (p.Gln131=)
|
rs759582860
|
0.00004
|
|
NM_006265.3(RAD21):c.807T>C (p.Asn269=)
|
rs372221161
|
0.00004
|
|
NM_006265.3(RAD21):c.999T>C (p.Asp333=)
|
rs768725843
|
0.00004
|
|
NM_006306.4(SMC1A):c.109+13T>G
|
rs782668468
|
0.00004
|
|
NM_006306.4(SMC1A):c.298+12T>C
|
rs782781148
|
0.00004
|
|
NM_006306.4(SMC1A):c.3390C>T (p.Gly1130=)
|
rs374246357
|
0.00004
|
|
NM_012243.3(SLC35A3):c.375A>T (p.Ala125=)
|
rs773812783
|
0.00004
|
|
NM_012243.3(SLC35A3):c.42C>G (p.Val14=)
|
rs761558203
|
0.00004
|
|
NM_013352.4(DSE):c.120C>T (p.Tyr40=)
|
rs75392879
|
0.00004
|
|
NM_013352.4(DSE):c.1737C>T (p.Pro579=)
|
rs765462761
|
0.00004
|
|
NM_013352.4(DSE):c.730C>T (p.Leu244=)
|
rs1041865456
|
0.00004
|
|
NM_016277.5(RAB23):c.171T>C (p.Asp57=)
|
rs368714271
|
0.00004
|
|
NM_016277.5(RAB23):c.255T>C (p.Cys85=)
|
rs374601145
|
0.00004
|
|
NM_016277.5(RAB23):c.481+10C>T
|
rs546078370
|
0.00004
|
|
NM_016277.5(RAB23):c.54A>G (p.Gly18=)
|
rs767442221
|
0.00004
|
|
NM_017617.5(NOTCH1):c.1023C>T (p.Ser341=)
|
rs200324222
|
0.00004
|
|
NM_017617.5(NOTCH1):c.1272G>A (p.Glu424=)
|
rs377342874
|
0.00004
|
|
NM_017617.5(NOTCH1):c.1441+13G>C
|
rs765812485
|
0.00004
|
|
NM_017617.5(NOTCH1):c.1670-10C>T
|
rs751747178
|
0.00004
|
|
NM_017617.5(NOTCH1):c.1903+10C>G
|
rs375704312
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2015-13G>A
|
rs772867940
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His)
|
rs561126575
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2126A>G (p.His709Arg)
|
rs373233257
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2503C>T (p.Pro835Ser)
|
rs377353441
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2511C>T (p.Pro837=)
|
rs201521828
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2541C>T (p.Ser847=)
|
rs763472606
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2613C>T (p.Asn871=)
|
rs767614547
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2727C>T (p.Asp909=)
|
rs752854629
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2728G>A (p.Asp910Asn)
|
rs765293859
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=)
|
rs762732089
|
0.00004
|
|
NM_017617.5(NOTCH1):c.2868C>T (p.Asn956=)
|
rs760227470
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3017C>T (p.Thr1006Ile)
|
rs367860186
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser)
|
rs375260339
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3210C>T (p.Asn1070=)
|
rs768144709
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3282C>T (p.Cys1094=)
|
rs748813647
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3513C>T (p.Cys1171=)
|
rs758860870
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3732C>T (p.Cys1244=)
|
rs746262173
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3901+9C>T
|
rs370537711
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3905G>A (p.Arg1302His)
|
rs762091081
|
0.00004
|
|
NM_017617.5(NOTCH1):c.3918C>T (p.Ser1306=)
|
rs770781173
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4143C>T (p.Pro1381=)
|
rs539950718
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=)
|
rs749570626
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4344G>A (p.Ala1448=)
|
rs763497791
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4467C>T (p.Asn1489=)
|
rs773323801
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4572G>A (p.Ala1524=)
|
rs745794855
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4587-6C>T
|
rs368601709
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=)
|
rs775752102
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=)
|
rs375091696
|
0.00004
|
|
NM_017617.5(NOTCH1):c.4800G>A (p.Leu1600=)
|
rs761609069
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5070G>A (p.Ser1690=)
|
rs370200858
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5168-4G>A
|
rs751709616
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5384+10C>T
|
rs748380110
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5416A>G (p.Met1806Val)
|
rs114479009
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=)
|
rs376590737
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5473-6A>G
|
rs367958280
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5485G>A (p.Val1829Met)
|
rs765486614
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5550C>T (p.Ala1850=)
|
rs374451515
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5638+7G>C
|
rs747630187
|
0.00004
|
|
NM_017617.5(NOTCH1):c.5715C>T (p.Asp1905=)
|
rs748200129
|
0.00004
|
|
NM_017617.5(NOTCH1):c.573C>T (p.His191=)
|
rs763733336
|
0.00004
|
|
NM_017617.5(NOTCH1):c.597C>T (p.Val199=)
|
rs747342494
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6083-15G>C
|
rs935662425
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=)
|
rs757372588
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=)
|
rs764551640
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6384G>A (p.Pro2128=)
|
rs746762310
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6540G>A (p.Arg2180=)
|
rs549193636
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6573G>A (p.Leu2191=)
|
rs758591166
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6577A>G (p.Ser2193Gly)
|
rs1060502236
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6750G>A (p.Ala2250=)
|
rs758285863
|
0.00004
|
|
NM_017617.5(NOTCH1):c.6822C>A (p.Ser2274=)
|
rs754675254
|
0.00004
|
|
NM_017617.5(NOTCH1):c.7203C>T (p.Asn2401=)
|
rs756434740
|
0.00004
|
|
NM_017617.5(NOTCH1):c.7385C>T (p.Pro2462Leu)
|
rs767435492
|
0.00004
|
|
NM_017617.5(NOTCH1):c.7386C>T (p.Pro2462=)
|
rs369470875
|
0.00004
|
|
NM_017617.5(NOTCH1):c.7401G>A (p.Ser2467=)
|
rs371306178
|
0.00004
|
|
NM_017617.5(NOTCH1):c.7569G>A (p.Ser2523=)
|
rs534623042
|
0.00004
|
|
NM_017617.5(NOTCH1):c.7641C>T (p.Ile2547=)
|
rs370124241
|
0.00004
|
|
NM_017617.5(NOTCH1):c.865+10C>T
|
rs760702631
|
0.00004
|
|
NM_017617.5(NOTCH1):c.865+16G>A
|
rs199828787
|
0.00004
|
|
NM_017617.5(NOTCH1):c.924C>T (p.Asn308=)
|
rs765208754
|
0.00004
|
|
NM_018062.4(FANCL):c.155+7T>C
|
rs200849840
|
0.00004
|
|
NM_018486.3(HDAC8):c.834C>T (p.Asn278=)
|
rs781878660
|
0.00004
|
|
NM_020436.5(SALL4):c.2385C>T (p.Ala795=)
|
rs142446452
|
0.00004
|
|
NM_020436.5(SALL4):c.594G>A (p.Ala198=)
|
rs377028033
|
0.00004
|
|
NM_020937.4(FANCM):c.1051-12C>T
|
rs374855389
|
0.00004
|
|
NM_020937.4(FANCM):c.1752G>A (p.Arg584=)
|
rs373696744
|
0.00004
|
|
NM_020937.4(FANCM):c.231C>T (p.Thr77=)
|
rs377164876
|
0.00004
|
|
NM_020937.4(FANCM):c.3405G>T (p.Leu1135=)
|
rs1318683898
|
0.00004
|
|
NM_020937.4(FANCM):c.3882T>C (p.Val1294=)
|
rs774984454
|
0.00004
|
|
NM_020937.4(FANCM):c.5532A>G (p.Gln1844=)
|
rs970724368
|
0.00004
|
|
NM_020937.4(FANCM):c.5919C>A (p.Leu1973=)
|
rs368568579
|
0.00004
|
|
NM_021922.3(FANCE):c.1238-13G>C
|
rs756557647
|
0.00004
|
|
NM_021922.3(FANCE):c.312C>T (p.Ala104=)
|
rs575747751
|
0.00004
|
|
NM_021922.3(FANCE):c.499C>T (p.Leu167=)
|
rs140563583
|
0.00004
|
|
NM_021922.3(FANCE):c.84C>T (p.Leu28=)
|
rs1160645936
|
0.00004
|
|
NM_021922.3(FANCE):c.856-11C>G
|
rs756018135
|
0.00004
|
|
NM_022725.4(FANCF):c.126C>T (p.Arg42=)
|
rs764431374
|
0.00004
|
|
NM_022725.4(FANCF):c.360C>T (p.Gly120=)
|
rs775422716
|
0.00004
|
|
NM_022725.4(FANCF):c.714C>T (p.Val238=)
|
rs774956968
|
0.00004
|
|
NM_023110.3(FGFR1):c.1005C>T (p.Asp335=)
|
rs1331582263
|
0.00004
|
|
NM_023110.3(FGFR1):c.1431-6C>T
|
rs375706016
|
0.00004
|
|
NM_023110.3(FGFR1):c.2187-5C>T
|
rs770230705
|
0.00004
|
|
NM_023110.3(FGFR1):c.2293-11G>A
|
rs886062919
|
0.00004
|
|
NM_023110.3(FGFR1):c.2400G>A (p.Pro800=)
|
rs780308433
|
0.00004
|
|
NM_023110.3(FGFR1):c.2428C>T (p.His810Tyr)
|
rs759376422
|
0.00004
|
|
NM_023110.3(FGFR1):c.266A>G (p.Gln89Arg)
|
rs773938208
|
0.00004
|
|
NM_023110.3(FGFR1):c.333C>T (p.Thr111=)
|
rs771522317
|
0.00004
|
|
NM_023110.3(FGFR1):c.621+7G>T
|
rs377200873
|
0.00004
|
|
NM_023110.3(FGFR1):c.741C>T (p.Val247=)
|
rs745325958
|
0.00004
|
|
NM_023110.3(FGFR1):c.937-14G>A
|
rs779223305
|
0.00004
|
|
NM_023110.3(FGFR1):c.937-4C>T
|
rs777156333
|
0.00004
|
|
NM_032043.3(BRIP1):c.1443T>C (p.Gly481=)
|
rs775431508
|
0.00004
|
|
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=)
|
rs373709958
|
0.00004
|
|
NM_032043.3(BRIP1):c.1695A>C (p.Ser565=)
|
rs142572387
|
0.00004
|
|
NM_032043.3(BRIP1):c.2097+20T>G
|
rs771066665
|
0.00004
|
|
NM_032043.3(BRIP1):c.2193A>G (p.Glu731=)
|
rs781712098
|
0.00004
|
|
NM_032043.3(BRIP1):c.297C>T (p.Asp99=)
|
rs201617644
|
0.00004
|
|
NM_032043.3(BRIP1):c.3051G>A (p.Pro1017=)
|
rs776990704
|
0.00004
|
|
NM_032043.3(BRIP1):c.400C>A (p.Leu134Met)
|
rs876658195
|
0.00004
|
|
NM_032043.3(BRIP1):c.69G>A (p.Pro23=)
|
rs45458996
|
0.00004
|
|
NM_032444.4(SLX4):c.162C>A (p.Leu54=)
|
rs776979024
|
0.00004
|
|
NM_032444.4(SLX4):c.1662C>T (p.Leu554=)
|
rs375996119
|
0.00004
|
|
NM_032444.4(SLX4):c.1740C>T (p.Ser580=)
|
rs200354014
|
0.00004
|
|
NM_032444.4(SLX4):c.1764C>T (p.His588=)
|
rs201638593
|
0.00004
|
|
NM_032444.4(SLX4):c.1824G>A (p.Glu608=)
|
rs1028896815
|
0.00004
|
|
NM_032444.4(SLX4):c.2046C>T (p.Gly682=)
|
rs762708132
|
0.00004
|
|
NM_032444.4(SLX4):c.2193C>T (p.Asp731=)
|
rs551541558
|
0.00004
|
|
NM_032444.4(SLX4):c.2340T>C (p.Ser780=)
|
rs935117725
|
0.00004
|
|
NM_032444.4(SLX4):c.2346C>T (p.Leu782=)
|
rs775150046
|
0.00004
|
|
NM_032444.4(SLX4):c.246C>T (p.Asn82=)
|
rs1021522087
|
0.00004
|
|
NM_032444.4(SLX4):c.2490G>A (p.Ala830=)
|
rs753595071
|
0.00004
|
|
NM_032444.4(SLX4):c.2500T>C (p.Leu834=)
|
rs755984266
|
0.00004
|
|
NM_032444.4(SLX4):c.2613G>A (p.Ala871=)
|
rs549139986
|
0.00004
|
|
NM_032444.4(SLX4):c.2991G>A (p.Pro997=)
|
rs770736311
|
0.00004
|
|
NM_032444.4(SLX4):c.3012C>T (p.Pro1004=)
|
rs533668167
|
0.00004
|
|
NM_032444.4(SLX4):c.3108A>G (p.Leu1036=)
|
rs751431046
|
0.00004
|
|
NM_032444.4(SLX4):c.3782C>T (p.Pro1261Leu)
|
rs374056556
|
0.00004
|
|
NM_032444.4(SLX4):c.3873G>A (p.Thr1291=)
|
rs751302297
|
0.00004
|
|
NM_032444.4(SLX4):c.4446C>T (p.Cys1482=)
|
rs1331923595
|
0.00004
|
|
NM_032444.4(SLX4):c.4456A>C (p.Arg1486=)
|
rs200536796
|
0.00004
|
|
NM_032444.4(SLX4):c.4637-17T>G
|
rs112687420
|
0.00004
|
|
NM_032444.4(SLX4):c.4740-19C>T
|
rs770943153
|
0.00004
|
|
NM_032444.4(SLX4):c.4740-5G>A
|
rs372656323
|
0.00004
|
|
NM_032444.4(SLX4):c.4740-6C>T
|
rs377066518
|
0.00004
|
|
NM_032444.4(SLX4):c.4857G>A (p.Pro1619=)
|
rs146423772
|
0.00004
|
|
NM_032444.4(SLX4):c.535+8G>C
|
rs1438562094
|
0.00004
|
|
NM_032444.4(SLX4):c.5382G>A (p.Ser1794=)
|
rs368848191
|
0.00004
|
|
NM_032444.4(SLX4):c.5427C>T (p.Thr1809=)
|
rs999815509
|
0.00004
|
|
NM_032444.4(SLX4):c.570T>G (p.Pro190=)
|
rs764067884
|
0.00004
|
|
NM_032634.4(PIGO):c.1224G>A (p.Gln408=)
|
rs765426156
|
0.00004
|
|
NM_032634.4(PIGO):c.198A>C (p.Arg66=)
|
rs140028855
|
0.00004
|
|
NM_032634.4(PIGO):c.2049C>T (p.Ala683=)
|
rs561156571
|
0.00004
|
|
NM_032634.4(PIGO):c.2421G>A (p.Glu807=)
|
rs573261706
|
0.00004
|
|
NM_032634.4(PIGO):c.3096C>T (p.Ser1032=)
|
rs754771965
|
0.00004
|
|
NM_032634.4(PIGO):c.468C>T (p.His156=)
|
rs374876329
|
0.00004
|
|
NM_032634.4(PIGO):c.789G>A (p.Val263=)
|
rs750328169
|
0.00004
|
|
NM_032634.4(PIGO):c.900G>A (p.Leu300=)
|
rs575290480
|
0.00004
|
|
NM_032634.4(PIGO):c.90C>T (p.Leu30=)
|
rs145530412
|
0.00004
|
|
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=)
|
rs201000407
|
0.00004
|
|
NM_058216.3(RAD51C):c.546T>G (p.Leu182=)
|
rs1476282276
|
0.00004
|
|
NM_130468.4(CHST14):c.111G>C (p.Pro37=)
|
rs746603977
|
0.00004
|
|
NM_130468.4(CHST14):c.315G>A (p.Arg105=)
|
rs903042632
|
0.00004
|
|
NM_130468.4(CHST14):c.891C>G (p.Gly297=)
|
rs772809123
|
0.00004
|
|
NM_133433.4(NIPBL):c.2120G>T (p.Gly707Val)
|
rs768620796
|
0.00004
|
|
NM_133433.4(NIPBL):c.2772C>T (p.Asn924=)
|
rs188565385
|
0.00004
|
|
NM_133433.4(NIPBL):c.2931A>G (p.Glu977=)
|
rs587783913
|
0.00004
|
|
NM_133433.4(NIPBL):c.3481C>T (p.Pro1161Ser)
|
rs557147929
|
0.00004
|
|
NM_133433.4(NIPBL):c.5472G>A (p.Ser1824=)
|
rs369177620
|
0.00004
|
|
NM_133433.4(NIPBL):c.6343+10A>G
|
rs767173489
|
0.00004
|
|
NM_133433.4(NIPBL):c.948A>G (p.Leu316=)
|
rs201213428
|
0.00004
|
|
NM_147127.5(EVC2):c.1122G>A (p.Gly374=)
|
rs780172151
|
0.00004
|
|
NM_147127.5(EVC2):c.1530G>A (p.Leu510=)
|
rs750953517
|
0.00004
|
|
NM_147127.5(EVC2):c.2247C>T (p.Asp749=)
|
rs748420448
|
0.00004
|
|
NM_147127.5(EVC2):c.2397C>T (p.Asp799=)
|
rs372782913
|
0.00004
|
|
NM_147127.5(EVC2):c.2517A>G (p.Ser839=)
|
rs756424912
|
0.00004
|
|
NM_147127.5(EVC2):c.2644A>G (p.Thr882Ala)
|
rs190540235
|
0.00004
|
|
NM_147127.5(EVC2):c.2706+13T>C
|
rs200000369
|
0.00004
|
|
NM_147127.5(EVC2):c.3048G>A (p.Ser1016=)
|
rs182310332
|
0.00004
|
|
NM_147127.5(EVC2):c.3058-4G>A
|
rs1490949079
|
0.00004
|
|
NM_147127.5(EVC2):c.30C>T (p.Pro10=)
|
rs1193570001
|
0.00004
|
|
NM_147127.5(EVC2):c.3156C>T (p.Ala1052=)
|
rs770163191
|
0.00004
|
|
NM_147127.5(EVC2):c.3165C>T (p.Pro1055=)
|
rs756880962
|
0.00004
|
|
NM_147127.5(EVC2):c.3192G>A (p.Val1064=)
|
rs755786659
|
0.00004
|
|
NM_147127.5(EVC2):c.3405C>T (p.Pro1135=)
|
rs776832054
|
0.00004
|
|
NM_147127.5(EVC2):c.3489C>T (p.Thr1163=)
|
rs370368827
|
0.00004
|
|
NM_147127.5(EVC2):c.3825C>T (p.Phe1275=)
|
rs772566880
|
0.00004
|
|
NM_147127.5(EVC2):c.576C>G (p.Thr192=)
|
rs764691234
|
0.00004
|
|
NM_147127.5(EVC2):c.732C>T (p.Tyr244=)
|
rs765159349
|
0.00004
|
|
NM_153717.3(EVC):c.1852G>A (p.Gly618Ser)
|
rs777024713
|
0.00004
|
|
NM_153717.3(EVC):c.1896G>T (p.Arg632=)
|
rs758327867
|
0.00004
|
|
NM_153717.3(EVC):c.219G>A (p.Ala73=)
|
rs759816860
|
0.00004
|
|
NM_153717.3(EVC):c.2305-6C>T
|
rs781705295
|
0.00004
|
|
NM_153717.3(EVC):c.2412C>T (p.His804=)
|
rs553232598
|
0.00004
|
|
NM_153717.3(EVC):c.279G>A (p.Ser93=)
|
rs373072919
|
0.00004
|
|
NM_153717.3(EVC):c.717T>A (p.Ile239=)
|
rs372312182
|
0.00004
|
|
NM_153717.3(EVC):c.867T>G (p.Gly289=)
|
rs758866277
|
0.00004
|
|
NM_153717.3(EVC):c.906G>A (p.Lys302=)
|
rs368231289
|
0.00004
|
|
NM_173660.5(DOK7):c.1023C>T (p.Ala341=)
|
rs773612095
|
0.00004
|
|
NM_173660.5(DOK7):c.1386C>T (p.Ser462=)
|
rs776733631
|
0.00004
|
|
NM_173660.5(DOK7):c.257C>T (p.Ala86Val)
|
rs575986565
|
0.00004
|
|
NM_173660.5(DOK7):c.54+10C>T
|
rs1260785223
|
0.00004
|
|
NM_173660.5(DOK7):c.652+14C>G
|
rs368188578
|
0.00004
|
|
NM_173660.5(DOK7):c.772+20T>C
|
rs376466543
|
0.00004
|
|
NM_173660.5(DOK7):c.773-7G>A
|
rs775008753
|
0.00004
|
|
NM_000079.4(CHRNA1):c.1320C>T (p.Ile440=)
|
rs776420240
|
0.00003
|
|
NM_000079.4(CHRNA1):c.801C>T (p.Ile267=)
|
rs1397059147
|
0.00003
|
|
NM_000079.4(CHRNA1):c.912C>T (p.Phe304=)
|
rs373005571
|
0.00003
|
|
NM_000135.4(FANCA):c.1006+19C>A
|
rs371384565
|
0.00003
|
|
NM_000135.4(FANCA):c.1084-8T>C
|
rs1466884693
|
0.00003
|
|
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)
|
rs773318145
|
0.00003
|
|
NM_000135.4(FANCA):c.12G>C (p.Ser4=)
|
rs1009539881
|
0.00003
|
|
NM_000135.4(FANCA):c.135A>G (p.Glu45=)
|
rs141820040
|
0.00003
|
|
NM_000135.4(FANCA):c.1459C>T (p.Arg487Trp)
|
rs143083764
|
0.00003
|
|
NM_000135.4(FANCA):c.1593C>T (p.Tyr531=)
|
rs762342197
|
0.00003
|
|
NM_000135.4(FANCA):c.1710G>A (p.Glu570=)
|
rs17226344
|
0.00003
|
|
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln)
|
rs778093769
|
0.00003
|
|
NM_000135.4(FANCA):c.1815G>A (p.Glu605=)
|
rs773613283
|
0.00003
|
|
NM_000135.4(FANCA):c.1901-9T>C
|
rs886052486
|
0.00003
|
|
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)
|
rs1306842168
|
0.00003
|
|
NM_000135.4(FANCA):c.2014+12T>A
|
rs370998253
|
0.00003
|
|
NM_000135.4(FANCA):c.2222+9G>C
|
rs774316742
|
0.00003
|
|
NM_000135.4(FANCA):c.2317-7G>A
|
rs763945801
|
0.00003
|
|
NM_000135.4(FANCA):c.2504+12T>C
|
rs1299971836
|
0.00003
|
|
NM_000135.4(FANCA):c.2661C>T (p.Asp887=)
|
rs145941808
|
0.00003
|
|
NM_000135.4(FANCA):c.2847T>C (p.Thr949=)
|
rs570751234
|
0.00003
|
|
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)
|
rs368953287
|
0.00003
|
|
NM_000135.4(FANCA):c.2964G>C (p.Leu988=)
|
rs751495133
|
0.00003
|
|
NM_000135.4(FANCA):c.3024T>C (p.Phe1008=)
|
rs970239067
|
0.00003
|
|
NM_000135.4(FANCA):c.3240-4C>G
|
rs778933108
|
0.00003
|
|
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His)
|
rs779268656
|
0.00003
|
|
NM_000135.4(FANCA):c.3349-11C>A
|
rs1190325114
|
0.00003
|
|
NM_000135.4(FANCA):c.3349-19G>T
|
rs377180908
|
0.00003
|
|
NM_000135.4(FANCA):c.3514-17T>C
|
rs1183051961
|
0.00003
|
|
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)
|
rs759303096
|
0.00003
|
|
NM_000135.4(FANCA):c.361G>A (p.Val121Met)
|
rs780035612
|
0.00003
|
|
NM_000135.4(FANCA):c.3627-8T>G
|
rs77877981
|
0.00003
|
|
NM_000135.4(FANCA):c.3627-9C>T
|
rs547300201
|
0.00003
|
|
NM_000135.4(FANCA):c.3666G>A (p.Pro1222=)
|
rs780031277
|
0.00003
|
|
NM_000135.4(FANCA):c.3699G>A (p.Ala1233=)
|
rs371798854
|
0.00003
|
|
NM_000135.4(FANCA):c.3924G>A (p.Leu1308=)
|
rs775127240
|
0.00003
|
|
NM_000135.4(FANCA):c.4031A>G (p.Glu1344Gly)
|
rs778544563
|
0.00003
|
|
NM_000135.4(FANCA):c.4038G>A (p.Ala1346=)
|
rs755479861
|
0.00003
|
|
NM_000135.4(FANCA):c.4108G>T (p.Ala1370Ser)
|
rs750839091
|
0.00003
|
|
NM_000135.4(FANCA):c.426+13C>T
|
rs755598667
|
0.00003
|
|
NM_000135.4(FANCA):c.4365C>T (p.Phe1455=)
|
rs1440013855
|
0.00003
|
|
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu)
|
rs774448881
|
0.00003
|
|
NM_000135.4(FANCA):c.522+9G>C
|
rs113051956
|
0.00003
|
|
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)
|
rs587778323
|
0.00003
|
|
NM_000135.4(FANCA):c.576C>T (p.Ser192=)
|
rs150448150
|
0.00003
|
|
NM_000135.4(FANCA):c.596+12A>G
|
rs377151927
|
0.00003
|
|
NM_000135.4(FANCA):c.793-10A>T
|
rs368979136
|
0.00003
|
|
NM_000136.3(FANCC):c.1073-20G>A
|
rs781438798
|
0.00003
|
|
NM_000136.3(FANCC):c.111C>T (p.His37=)
|
rs751219956
|
0.00003
|
|
NM_000136.3(FANCC):c.1330-6G>T
|
rs1223668739
|
0.00003
|
|
NM_000136.3(FANCC):c.1353C>T (p.Gly451=)
|
rs745338413
|
0.00003
|
|
NM_000136.3(FANCC):c.1611C>A (p.Gly537=)
|
rs1027358273
|
0.00003
|
|
NM_000136.3(FANCC):c.165+8del
|
rs1281745385
|
0.00003
|
|
NM_000136.3(FANCC):c.438T>C (p.Tyr146=)
|
rs765990832
|
0.00003
|
|
NM_000136.3(FANCC):c.528T>C (p.Ala176=)
|
rs1237481707
|
0.00003
|
|
NM_000136.3(FANCC):c.906C>G (p.Leu302=)
|
rs766079351
|
0.00003
|
|
NM_000751.3(CHRND):c.353+14C>G
|
rs765810417
|
0.00003
|
|
NM_000751.3(CHRND):c.882C>T (p.Leu294=)
|
rs1178183798
|
0.00003
|
|
NM_001018113.3(FANCB):c.1103C>T (p.Ser368Leu)
|
rs143585647
|
0.00003
|
|
NM_001018113.3(FANCB):c.1899A>G (p.Leu633=)
|
rs1232908863
|
0.00003
|
|
NM_001018113.3(FANCB):c.256A>G (p.Arg86Gly)
|
rs1041477988
|
0.00003
|
|
NM_001018113.3(FANCB):c.510T>G (p.Ile170Met)
|
rs775216604
|
0.00003
|
|
NM_001018113.3(FANCB):c.7A>G (p.Ser3Gly)
|
rs139111718
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1221T>C (p.Ile407=)
|
rs745305575
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1440T>C (p.His480=)
|
rs375412395
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1545+9T>C
|
rs769459614
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1766+7G>A
|
rs563561289
|
0.00003
|
|
NM_001018115.3(FANCD2):c.1948-7C>T
|
rs757782326
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2196G>A (p.Pro732=)
|
rs200848801
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2238C>T (p.Asn746=)
|
rs35817402
|
0.00003
|
|
NM_001018115.3(FANCD2):c.2716-15G>A
|
rs771386311
|
0.00003
|
|
NM_001018115.3(FANCD2):c.273+14C>T
|
rs749849880
|
0.00003
|
|
NM_001018115.3(FANCD2):c.3466+9C>G
|
rs33998487
|
0.00003
|
|
NM_001018115.3(FANCD2):c.65-18A>C
|
rs747412191
|
0.00003
|
|
NM_001113378.2(FANCI):c.1113C>T (p.Ser371=)
|
rs780568718
|
0.00003
|
|
NM_001113378.2(FANCI):c.1398C>T (p.Ile466=)
|
rs201002833
|
0.00003
|
|
NM_001113378.2(FANCI):c.1699-11C>T
|
rs753750358
|
0.00003
|
|
NM_001113378.2(FANCI):c.1993-6C>T
|
rs1419780732
|
0.00003
|
|
NM_001113378.2(FANCI):c.2170-6T>C
|
rs764818761
|
0.00003
|
|
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=)
|
rs768234660
|
0.00003
|
|
NM_001113378.2(FANCI):c.2803+15A>T
|
rs372343510
|
0.00003
|
|
NM_001113378.2(FANCI):c.2907A>C (p.Leu969Phe)
|
rs568094959
|
0.00003
|
|
NM_001113378.2(FANCI):c.445+19T>C
|
rs1340366575
|
0.00003
|
|
NM_001113378.2(FANCI):c.446-9C>T
|
rs761356536
|
0.00003
|
|
NM_001113378.2(FANCI):c.579T>C (p.Phe193=)
|
rs746361181
|
0.00003
|
|
NM_001113378.2(FANCI):c.595T>C (p.Leu199=)
|
rs373954813
|
0.00003
|
|
NM_001113378.2(FANCI):c.705C>T (p.Ala235=)
|
rs542117175
|
0.00003
|
|
NM_001113378.2(FANCI):c.883-9C>T
|
rs563201817
|
0.00003
|
|
NM_001271938.2(MEGF8):c.1707C>T (p.Ser569=)
|
rs201780276
|
0.00003
|
|
NM_001271938.2(MEGF8):c.2961C>T (p.His987=)
|
rs760802467
|
0.00003
|
|
NM_001271938.2(MEGF8):c.3648C>T (p.His1216=)
|
rs144358189
|
0.00003
|
|
NM_001271938.2(MEGF8):c.5556C>T (p.Arg1852=)
|
rs756300122
|
0.00003
|
|
NM_001271938.2(MEGF8):c.5601G>C (p.Leu1867=)
|
rs772768540
|
0.00003
|
|
NM_001271938.2(MEGF8):c.5907T>C (p.Asn1969=)
|
rs751281117
|
0.00003
|
|
NM_001271938.2(MEGF8):c.6093C>T (p.Thr2031=)
|
rs992577271
|
0.00003
|
|
NM_001271938.2(MEGF8):c.6705C>T (p.Pro2235=)
|
rs149735243
|
0.00003
|
|
NM_001278689.2(EOGT):c.515+7T>A
|
rs764750079
|
0.00003
|
|
NM_001346754.2(PIGW):c.1404A>G (p.Thr468=)
|
rs149579850
|
0.00003
|
|
NM_001374353.1(GLI2):c.131C>T (p.Ala44Val)
|
rs200095340
|
0.00003
|
|
NM_001374353.1(GLI2):c.1633-5C>T
|
rs551256208
|
0.00003
|
|
NM_001374353.1(GLI2):c.1755C>T (p.Asp585=)
|
rs139202322
|
0.00003
|
|
NM_001374353.1(GLI2):c.1890G>A (p.Lys630=)
|
rs565184396
|
0.00003
|
|
NM_001374353.1(GLI2):c.2486C>T (p.Pro829Leu)
|
rs761090665
|
0.00003
|
|
NM_001374353.1(GLI2):c.3562C>T (p.Leu1188=)
|
rs369264013
|
0.00003
|
|
NM_001374353.1(GLI2):c.4299G>T (p.Gln1433His)
|
rs201523549
|
0.00003
|
|
NM_001374353.1(GLI2):c.4440C>T (p.Ser1480=)
|
rs1403391073
|
0.00003
|
|
NM_001429.4(EP300):c.1528+15T>C
|
rs200147263
|
0.00003
|
|
NM_001429.4(EP300):c.1627A>G (p.Met543Val)
|
rs142823793
|
0.00003
|
|
NM_001429.4(EP300):c.4172+16A>G
|
rs777335301
|
0.00003
|
|
NM_001429.4(EP300):c.545A>G (p.Asn182Ser)
|
rs201487387
|
0.00003
|
|
NM_001429.4(EP300):c.6091C>T (p.Pro2031Ser)
|
rs199650847
|
0.00003
|
|
NM_001429.4(EP300):c.726T>A (p.Leu242=)
|
rs886057555
|
0.00003
|
|
NM_001999.4(FBN2):c.1091G>A (p.Gly364Asp)
|
rs762615993
|
0.00003
|
|
NM_001999.4(FBN2):c.1410C>A (p.Gly470=)
|
rs750103822
|
0.00003
|
|
NM_001999.4(FBN2):c.1526G>T (p.Arg509Leu)
|
rs199587570
|
0.00003
|
|
NM_001999.4(FBN2):c.186G>A (p.Glu62=)
|
rs759839753
|
0.00003
|
|
NM_001999.4(FBN2):c.195G>A (p.Glu65=)
|
rs750055830
|
0.00003
|
|
NM_001999.4(FBN2):c.2214A>T (p.Gly738=)
|
rs201548788
|
0.00003
|
|
NM_001999.4(FBN2):c.2634G>A (p.Ser878=)
|
rs143905167
|
0.00003
|
|
NM_001999.4(FBN2):c.2674+10A>G
|
rs371734006
|
0.00003
|
|
NM_001999.4(FBN2):c.3279C>T (p.Ile1093=)
|
rs142809999
|
0.00003
|
|
NM_001999.4(FBN2):c.3702G>A (p.Thr1234=)
|
rs374833053
|
0.00003
|
|
NM_001999.4(FBN2):c.3709C>T (p.Arg1237Cys)
|
rs746570981
|
0.00003
|
|
NM_001999.4(FBN2):c.3710G>T (p.Arg1237Leu)
|
rs142185964
|
0.00003
|
|
NM_001999.4(FBN2):c.3840G>A (p.Ser1280=)
|
rs372613935
|
0.00003
|
|
NM_001999.4(FBN2):c.3980A>G (p.Asn1327Ser)
|
rs762567430
|
0.00003
|
|
NM_001999.4(FBN2):c.4103T>C (p.Val1368Ala)
|
rs28763942
|
0.00003
|
|
NM_001999.4(FBN2):c.4290C>T (p.Gly1430=)
|
rs773650336
|
0.00003
|
|
NM_001999.4(FBN2):c.4551C>T (p.Cys1517=)
|
rs144018137
|
0.00003
|
|
NM_001999.4(FBN2):c.4785C>T (p.Thr1595=)
|
rs756084999
|
0.00003
|
|
NM_001999.4(FBN2):c.4914C>T (p.Gly1638=)
|
rs1482008222
|
0.00003
|
|
NM_001999.4(FBN2):c.49G>A (p.Gly17Ser)
|
rs1085307788
|
0.00003
|
|
NM_001999.4(FBN2):c.5548+20T>C
|
rs372334617
|
0.00003
|
|
NM_001999.4(FBN2):c.5567A>G (p.Asn1856Ser)
|
rs780989245
|
0.00003
|
|
NM_001999.4(FBN2):c.5638G>A (p.Ala1880Thr)
|
rs546148828
|
0.00003
|
|
NM_001999.4(FBN2):c.6057G>A (p.Glu2019=)
|
rs752114619
|
0.00003
|
|
NM_001999.4(FBN2):c.629-19T>C
|
rs374428361
|
0.00003
|
|
NM_001999.4(FBN2):c.6411G>A (p.Gly2137=)
|
rs552637321
|
0.00003
|
|
NM_001999.4(FBN2):c.6439G>A (p.Asp2147Asn)
|
rs370650204
|
0.00003
|
|
NM_001999.4(FBN2):c.6909C>T (p.His2303=)
|
rs762440824
|
0.00003
|
|
NM_001999.4(FBN2):c.6986G>A (p.Arg2329Gln)
|
rs370804151
|
0.00003
|
|
NM_001999.4(FBN2):c.7338T>C (p.Asp2446=)
|
rs751824761
|
0.00003
|
|
NM_001999.4(FBN2):c.7477G>A (p.Asp2493Asn)
|
rs779483120
|
0.00003
|
|
NM_001999.4(FBN2):c.7587A>G (p.Thr2529=)
|
rs145809024
|
0.00003
|
|
NM_001999.4(FBN2):c.7756G>A (p.Gly2586Arg)
|
rs747305733
|
0.00003
|
|
NM_001999.4(FBN2):c.8046G>T (p.Ser2682=)
|
rs771507975
|
0.00003
|
|
NM_001999.4(FBN2):c.8112C>T (p.Asn2704=)
|
rs370851605
|
0.00003
|
|
NM_001999.4(FBN2):c.8192+7C>T
|
rs376135657
|
0.00003
|
|
NM_001999.4(FBN2):c.81C>T (p.Ala27=)
|
rs746484599
|
0.00003
|
|
NM_001999.4(FBN2):c.8253C>T (p.Val2751=)
|
rs140631421
|
0.00003
|
|
NM_001999.4(FBN2):c.8305G>A (p.Gly2769Ser)
|
rs372206279
|
0.00003
|
|
NM_001999.4(FBN2):c.8469C>T (p.Pro2823=)
|
rs371397121
|
0.00003
|
|
NM_001999.4(FBN2):c.8596G>A (p.Gly2866Ser)
|
rs752201545
|
0.00003
|
|
NM_001999.4(FBN2):c.8701G>A (p.Glu2901Lys)
|
rs781069799
|
0.00003
|
|
NM_001999.4(FBN2):c.93G>T (p.Gln31His)
|
rs371491169
|
0.00003
|
|
NM_002334.4(LRP4):c.1284C>T (p.Pro428=)
|
rs374136996
|
0.00003
|
|
NM_002334.4(LRP4):c.1368C>T (p.His456=)
|
rs570223328
|
0.00003
|
|
NM_002334.4(LRP4):c.3136+10A>G
|
rs377543577
|
0.00003
|
|
NM_002334.4(LRP4):c.3462C>T (p.Asp1154=)
|
rs570258125
|
0.00003
|
|
NM_002334.4(LRP4):c.3516C>T (p.Ile1172=)
|
rs377557349
|
0.00003
|
|
NM_002334.4(LRP4):c.3861C>A (p.Ile1287=)
|
rs751449110
|
0.00003
|
|
NM_002334.4(LRP4):c.4269C>T (p.Ile1423=)
|
rs952249452
|
0.00003
|
|
NM_002334.4(LRP4):c.501C>T (p.Cys167=)
|
rs369739623
|
0.00003
|
|
NM_002334.4(LRP4):c.504C>T (p.Asp168=)
|
rs749048211
|
0.00003
|
|
NM_002334.4(LRP4):c.5385+13A>G
|
rs370288647
|
0.00003
|
|
NM_002334.4(LRP4):c.768T>C (p.Cys256=)
|
rs774343834
|
0.00003
|
|
NM_002968.3(SALL1):c.1565C>T (p.Thr522Met)
|
rs200304033
|
0.00003
|
|
NM_002968.3(SALL1):c.219C>T (p.Ile73=)
|
rs774483464
|
0.00003
|
|
NM_002968.3(SALL1):c.3199C>T (p.Leu1067Phe)
|
rs1375814966
|
0.00003
|
|
NM_002968.3(SALL1):c.3771C>T (p.Asn1257=)
|
rs145423593
|
0.00003
|
|
NM_003289.4(TPM2):c.241-7C>A
|
rs759898332
|
0.00003
|
|
NM_003289.4(TPM2):c.563+12C>T
|
rs185397376
|
0.00003
|
|
NM_003289.4(TPM2):c.564-19C>G
|
rs1374322376
|
0.00003
|
|
NM_003289.4(TPM2):c.618C>A (p.Ser206=)
|
rs370079073
|
0.00003
|
|
NM_003334.4(UBA1):c.1077A>C (p.Val359=)
|
rs782342123
|
0.00003
|
|
NM_003334.4(UBA1):c.1576-19C>T
|
rs782315217
|
0.00003
|
|
NM_003334.4(UBA1):c.1683T>C (p.Asp561=)
|
rs781873529
|
0.00003
|
|
NM_003334.4(UBA1):c.176+18C>T
|
rs782702800
|
0.00003
|
|
NM_003334.4(UBA1):c.2391C>T (p.Pro797=)
|
rs1556793279
|
0.00003
|
|
NM_003334.4(UBA1):c.2838+17G>A
|
rs1467681554
|
0.00003
|
|
NM_003334.4(UBA1):c.852C>T (p.Ser284=)
|
rs781839047
|
0.00003
|
|
NM_003334.4(UBA1):c.910-8C>T
|
rs374197052
|
0.00003
|
|
NM_004380.3(CREBBP):c.1026A>G (p.Thr342=)
|
rs751666077
|
0.00003
|
|
NM_004380.3(CREBBP):c.1995A>G (p.Leu665=)
|
rs1028648371
|
0.00003
|
|
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=)
|
rs756570921
|
0.00003
|
|
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser)
|
rs200673670
|
0.00003
|
|
NM_004380.3(CREBBP):c.4560+7G>C
|
rs587783498
|
0.00003
|
|
NM_004380.3(CREBBP):c.4674A>G (p.Gln1558=)
|
rs770241645
|
0.00003
|
|
NM_004380.3(CREBBP):c.5169C>T (p.Cys1723=)
|
rs146718571
|
0.00003
|
|
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met)
|
rs760771706
|
0.00003
|
|
NM_004380.3(CREBBP):c.5970C>T (p.Thr1990=)
|
rs773118274
|
0.00003
|
|
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=)
|
rs768100377
|
0.00003
|
|
NM_004380.3(CREBBP):c.6549G>A (p.Ala2183=)
|
rs1348561145
|
0.00003
|
|
NM_004380.3(CREBBP):c.675G>A (p.Pro225=)
|
rs140708841
|
0.00003
|
|
NM_004380.3(CREBBP):c.701C>T (p.Ala234Val)
|
rs727503892
|
0.00003
|
|
NM_004380.3(CREBBP):c.7125C>T (p.His2375=)
|
rs746116315
|
0.00003
|
|
NM_004629.2(FANCG):c.1062C>T (p.Cys354=)
|
rs745928033
|
0.00003
|
|
NM_004629.2(FANCG):c.1704T>C (p.Thr568=)
|
rs759675304
|
0.00003
|
|
NM_004629.2(FANCG):c.1758G>T (p.Leu586=)
|
rs549578835
|
0.00003
|
|
NM_004629.2(FANCG):c.867C>T (p.Leu289=)
|
rs755031729
|
0.00003
|
|
NM_004629.2(FANCG):c.927C>T (p.Ala309=)
|
rs370002843
|
0.00003
|
|
NM_005055.5(RAPSN):c.1077G>A (p.Thr359=)
|
rs565321918
|
0.00003
|
|
NM_005055.5(RAPSN):c.246C>T (p.Leu82=)
|
rs780420252
|
0.00003
|
|
NM_005055.5(RAPSN):c.567G>A (p.Ala189=)
|
rs886043559
|
0.00003
|
|
NM_005055.5(RAPSN):c.705C>T (p.Ile235=)
|
rs562539081
|
0.00003
|
|
NM_005055.5(RAPSN):c.717C>T (p.His239=)
|
rs576729861
|
0.00003
|
|
NM_005055.5(RAPSN):c.729A>G (p.Pro243=)
|
rs1297914613
|
0.00003
|
|
NM_005055.5(RAPSN):c.966+16G>A
|
rs759757902
|
0.00003
|
|
NM_005236.3(ERCC4):c.1431G>T (p.Arg477=)
|
rs760367072
|
0.00003
|
|
NM_005236.3(ERCC4):c.1758C>G (p.Thr586=)
|
rs367595904
|
0.00003
|
|
NM_005236.3(ERCC4):c.2046A>G (p.Gln682=)
|
rs565249189
|
0.00003
|
|
NM_005236.3(ERCC4):c.69G>A (p.Val23=)
|
rs201606798
|
0.00003
|
|
NM_005445.4(SMC3):c.1410-20G>A
|
rs772063912
|
0.00003
|
|
NM_005592.4(MUSK):c.1277T>C (p.Met426Thr)
|
rs368044285
|
0.00003
|
|
NM_005592.4(MUSK):c.2111G>A (p.Cys704Tyr)
|
rs577931355
|
0.00003
|
|
NM_005592.4(MUSK):c.2406C>T (p.Pro802=)
|
rs1444464544
|
0.00003
|
|
NM_006147.4(IRF6):c.888C>T (p.Asp296=)
|
rs748882482
|
0.00003
|
|
NM_006265.3(RAD21):c.1782C>T (p.Ala594=)
|
rs61737172
|
0.00003
|
|
NM_006265.3(RAD21):c.363G>C (p.Leu121=)
|
rs959964243
|
0.00003
|
|
NM_006265.3(RAD21):c.741C>G (p.Ala247=)
|
rs141798668
|
0.00003
|
|
NM_006265.3(RAD21):c.849C>T (p.Pro283=)
|
rs369661655
|
0.00003
|
|
NM_006306.4(SMC1A):c.1101G>A (p.Leu367=)
|
rs782695048
|
0.00003
|
|
NM_006306.4(SMC1A):c.1566A>G (p.Leu522=)
|
rs782191187
|
0.00003
|
|
NM_006306.4(SMC1A):c.1933C>T (p.Leu645=)
|
rs987473076
|
0.00003
|
|
NM_006306.4(SMC1A):c.1938C>T (p.Phe646=)
|
rs370873072
|
0.00003
|
|
NM_006306.4(SMC1A):c.2059-9T>C
|
rs782041729
|
0.00003
|
|
NM_006306.4(SMC1A):c.227A>G (p.Asn76Ser)
|
rs200243549
|
0.00003
|
|
NM_006306.4(SMC1A):c.2421-20C>T
|
rs1282673050
|
0.00003
|
|
NM_006306.4(SMC1A):c.3618+8G>A
|
rs782319907
|
0.00003
|
|
NM_006306.4(SMC1A):c.429T>C (p.Ile143=)
|
rs782366028
|
0.00003
|
|
NM_006306.4(SMC1A):c.594A>G (p.Glu198=)
|
rs1556890814
|
0.00003
|
|
NM_012243.3(SLC35A3):c.301C>T (p.Leu101=)
|
rs374410007
|
0.00003
|
|
NM_012243.3(SLC35A3):c.543A>T (p.Thr181=)
|
rs746093643
|
0.00003
|
|
NM_012243.3(SLC35A3):c.765C>T (p.Gly255=)
|
rs1226277790
|
0.00003
|
|
NM_012243.3(SLC35A3):c.888-6A>G
|
rs911464311
|
0.00003
|
|
NM_013352.4(DSE):c.1140G>A (p.Ser380=)
|
rs756171586
|
0.00003
|
|
NM_013352.4(DSE):c.136C>T (p.Leu46=)
|
rs754023509
|
0.00003
|
|
NM_013352.4(DSE):c.753G>A (p.Thr251=)
|
rs769250716
|
0.00003
|
|
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=)
|
rs375506915
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1446C>T (p.Tyr482=)
|
rs757373430
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1845G>A (p.Gly615=)
|
rs1442503672
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=)
|
rs749374016
|
0.00003
|
|
NM_017617.5(NOTCH1):c.1988A>T (p.Glu663Val)
|
rs1468283318
|
0.00003
|
|
NM_017617.5(NOTCH1):c.210C>T (p.Asn70=)
|
rs763414200
|
0.00003
|
|
NM_017617.5(NOTCH1):c.225C>T (p.His75=)
|
rs776616401
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2354-14C>A
|
rs376797282
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2379C>T (p.Asn793=)
|
rs200565505
|
0.00003
|
|
NM_017617.5(NOTCH1):c.246G>C (p.Val82=)
|
rs1055942607
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=)
|
rs546222078
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2588-5C>T
|
rs764684418
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2654A>G (p.Gln885Arg)
|
rs764327751
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2665G>A (p.Gly889Ser)
|
rs557590721
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2895C>T (p.Asp965=)
|
rs769901855
|
0.00003
|
|
NM_017617.5(NOTCH1):c.2995G>A (p.Val999Met)
|
rs756840659
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3012G>A (p.Ser1004=)
|
rs371301397
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3076G>A (p.Asp1026Asn)
|
rs772134978
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3171+12G>A
|
rs753242532
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3354T>C (p.His1118=)
|
rs754633274
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3405G>A (p.Ala1135=)
|
rs192914380
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3552C>T (p.Ile1184=)
|
rs773375573
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3583G>A (p.Gly1195Arg)
|
rs777194812
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3643+17G>A
|
rs376187570
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3644-17G>A
|
rs139960251
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3644-18C>T
|
rs575836415
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3724G>A (p.Gly1242Ser)
|
rs558191127
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3860G>A (p.Arg1287His)
|
rs763679772
|
0.00003
|
|
NM_017617.5(NOTCH1):c.3901+10G>A
|
rs561404862
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4015-7C>T
|
rs761783451
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=)
|
rs775108554
|
0.00003
|
|
NM_017617.5(NOTCH1):c.411G>A (p.Ser137=)
|
rs560826996
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4356C>T (p.Pro1452=)
|
rs770281345
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4393C>T (p.Leu1465=)
|
rs779863069
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4596C>T (p.Tyr1532=)
|
rs751774685
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4671C>T (p.Asp1557=)
|
rs757602593
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4713C>T (p.Ala1571=)
|
rs377357743
|
0.00003
|
|
NM_017617.5(NOTCH1):c.474C>T (p.Phe158=)
|
rs774011231
|
0.00003
|
|
NM_017617.5(NOTCH1):c.4794C>T (p.Arg1598=)
|
rs558708604
|
0.00003
|
|
NM_017617.5(NOTCH1):c.500C>T (p.Pro167Leu)
|
rs370951369
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5019C>G (p.Gly1673=)
|
rs754785324
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5103A>G (p.Ala1701=)
|
rs776610176
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5115G>A (p.Ala1705=)
|
rs201797774
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5154C>T (p.Ile1718=)
|
rs755764089
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5168-11C>T
|
rs756486803
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5220G>A (p.Ala1740=)
|
rs758562368
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5361C>T (p.Leu1787=)
|
rs760147171
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5384+7G>A
|
rs374235818
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5407G>A (p.Gly1803Ser)
|
rs369526652
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5499C>T (p.Asp1833=)
|
rs754075361
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5777G>A (p.Arg1926His)
|
rs771407924
|
0.00003
|
|
NM_017617.5(NOTCH1):c.5892G>A (p.Pro1964=)
|
rs769135138
|
0.00003
|
|
NM_017617.5(NOTCH1):c.6082+19G>A
|
rs780533166
|
0.00003
|
|
NM_017617.5(NOTCH1):c.6180+8C>T
|
rs769015966
|
0.00003
|
|
NM_017617.5(NOTCH1):c.621C>T (p.Arg207=)
|
rs756164624
|
0.00003
|
|
NM_017617.5(NOTCH1):c.6270G>A (p.Thr2090=)
|
rs755970286
|
0.00003
|
|
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=)
|
rs777111928
|
0.00003
|
|
NM_017617.5(NOTCH1):c.6351C>A (p.Asn2117Lys)
|
rs755509796
|
0.00003
|
|
NM_017617.5(NOTCH1):c.6753C>T (p.Ala2251=)
|
rs542875894
|
0.00003
|
|
NM_017617.5(NOTCH1):c.6770C>T (p.Ala2257Val)
|
rs377112509
|
0.00003
|
|
NM_017617.5(NOTCH1):c.7017C>T (p.Ala2339=)
|
rs1342843228
|
0.00003
|
|
NM_017617.5(NOTCH1):c.742+20G>A
|
rs754496640
|
0.00003
|
|
NM_017617.5(NOTCH1):c.7431C>T (p.Thr2477=)
|
rs748244353
|
0.00003
|
|
NM_017617.5(NOTCH1):c.870G>A (p.Gln290=)
|
rs779434286
|
0.00003
|
|
NM_017617.5(NOTCH1):c.927C>T (p.Gly309=)
|
rs753681098
|
0.00003
|
|
NM_018062.4(FANCL):c.374+13T>C
|
rs776463455
|
0.00003
|
|
NM_018062.4(FANCL):c.375-6C>T
|
rs773848254
|
0.00003
|
|
NM_018062.4(FANCL):c.471+12G>A
|
rs369756342
|
0.00003
|
|
NM_018062.4(FANCL):c.822-13C>T
|
rs756047554
|
0.00003
|
|
NM_018062.4(FANCL):c.948C>T (p.Asp316=)
|
rs1409256364
|
0.00003
|
|
NM_018486.3(HDAC8):c.915C>G (p.Gly305=)
|
rs782121649
|
0.00003
|
|
NM_020436.5(SALL4):c.216C>T (p.His72=)
|
rs138604469
|
0.00003
|
|
NM_020436.5(SALL4):c.2462-12T>C
|
rs770440198
|
0.00003
|
|
NM_020436.5(SALL4):c.3153G>A (p.Ala1051=)
|
rs142551587
|
0.00003
|
|
NM_020937.4(FANCM):c.1029A>G (p.Lys343=)
|
rs777761113
|
0.00003
|
|
NM_020937.4(FANCM):c.1397-4A>G
|
rs765857460
|
0.00003
|
|
NM_020937.4(FANCM):c.1602C>T (p.Asp534=)
|
rs201951080
|
0.00003
|
|
NM_020937.4(FANCM):c.1788+19A>G
|
rs373941822
|
0.00003
|
|
NM_020937.4(FANCM):c.2240A>G (p.His747Arg)
|
rs181827583
|
0.00003
|
|
NM_020937.4(FANCM):c.3112C>T (p.Leu1038=)
|
rs566514015
|
0.00003
|
|
NM_020937.4(FANCM):c.4515+10T>C
|
rs747493198
|
0.00003
|
|
NM_020937.4(FANCM):c.4578T>G (p.Val1526=)
|
rs368982372
|
0.00003
|
|
NM_020937.4(FANCM):c.4672+11T>C
|
rs778527745
|
0.00003
|
|
NM_020937.4(FANCM):c.4878T>C (p.Asp1626=)
|
rs150389713
|
0.00003
|
|
NM_020937.4(FANCM):c.5409T>C (p.Ala1803=)
|
rs141214060
|
0.00003
|
|
NM_020937.4(FANCM):c.5745A>G (p.Thr1915=)
|
rs535316621
|
0.00003
|
|
NM_020937.4(FANCM):c.5772C>A (p.Thr1924=)
|
rs377475907
|
0.00003
|
|
NM_020937.4(FANCM):c.5823C>T (p.Thr1941=)
|
rs766031579
|
0.00003
|
|
NM_020937.4(FANCM):c.5898T>C (p.Asn1966=)
|
rs780323169
|
0.00003
|
|
NM_020937.4(FANCM):c.6060G>A (p.Glu2020=)
|
rs949619907
|
0.00003
|
|
NM_020937.4(FANCM):c.6084T>C (p.Tyr2028=)
|
rs756119280
|
0.00003
|
|
NM_020937.4(FANCM):c.6127A>C (p.Arg2043=)
|
rs746223444
|
0.00003
|
|
NM_021922.3(FANCE):c.1086G>C (p.Val362=)
|
rs146571065
|
0.00003
|
|
NM_021922.3(FANCE):c.1092C>T (p.Thr364=)
|
rs776318917
|
0.00003
|
|
NM_021922.3(FANCE):c.1200C>T (p.Ser400=)
|
rs752689765
|
0.00003
|
|
NM_021922.3(FANCE):c.1509+19T>C
|
rs760565814
|
0.00003
|
|
NM_022725.4(FANCF):c.1002G>C (p.Ala334=)
|
rs761698961
|
0.00003
|
|
NM_022725.4(FANCF):c.234G>A (p.Pro78=)
|
rs144503236
|
0.00003
|
|
NM_023110.3(FGFR1):c.1663+9C>T
|
rs557754125
|
0.00003
|
|
NM_023110.3(FGFR1):c.2049-12G>A
|
rs563601371
|
0.00003
|
|
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=)
|
rs777061347
|
0.00003
|
|
NM_023110.3(FGFR1):c.2186+19C>T
|
rs776791517
|
0.00003
|
|
NM_023110.3(FGFR1):c.456T>C (p.Ala152=)
|
rs369175953
|
0.00003
|
|
NM_023110.3(FGFR1):c.92-20C>T
|
rs559825541
|
0.00003
|
|
NM_032043.3(BRIP1):c.1257G>A (p.Arg419=)
|
rs148429663
|
0.00003
|
|
NM_032043.3(BRIP1):c.1314A>G (p.Leu438=)
|
rs1291435424
|
0.00003
|
|
NM_032043.3(BRIP1):c.1794+19T>C
|
rs752328575
|
0.00003
|
|
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)
|
rs766047812
|
0.00003
|
|
NM_032043.3(BRIP1):c.2492+8G>C
|
rs772953115
|
0.00003
|
|
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=)
|
rs555200296
|
0.00003
|
|
NM_032043.3(BRIP1):c.3042T>C (p.Gly1014=)
|
rs188258913
|
0.00003
|
|
NM_032043.3(BRIP1):c.312T>G (p.Thr104=)
|
rs769190318
|
0.00003
|
|
NM_032043.3(BRIP1):c.379+4_379+5del
|
rs773332695
|
0.00003
|
|
NM_032043.3(BRIP1):c.628-16C>A
|
rs770648312
|
0.00003
|
|
NM_032043.3(BRIP1):c.672A>G (p.Gly224=)
|
rs752356873
|
0.00003
|
|
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)
|
rs45512798
|
0.00003
|
|
NM_032444.4(SLX4):c.1881G>A (p.Pro627=)
|
rs766325727
|
0.00003
|
|
NM_032444.4(SLX4):c.2022C>T (p.Leu674=)
|
rs139900828
|
0.00003
|
|
NM_032444.4(SLX4):c.2097C>T (p.Ser699=)
|
rs747941542
|
0.00003
|
|
NM_032444.4(SLX4):c.2124C>T (p.Phe708=)
|
rs564042887
|
0.00003
|
|
NM_032444.4(SLX4):c.2787G>A (p.Pro929=)
|
rs766824198
|
0.00003
|
|
NM_032444.4(SLX4):c.2940C>T (p.Ala980=)
|
rs1415684146
|
0.00003
|
|
NM_032444.4(SLX4):c.3042G>A (p.Arg1014=)
|
rs752948857
|
0.00003
|
|
NM_032444.4(SLX4):c.3106C>T (p.Leu1036=)
|
rs781572774
|
0.00003
|
|
NM_032444.4(SLX4):c.4131G>A (p.Ser1377=)
|
rs757513165
|
0.00003
|
|
NM_032444.4(SLX4):c.4185C>T (p.Val1395=)
|
rs993089915
|
0.00003
|
|
NM_032444.4(SLX4):c.4272C>T (p.Asp1424=)
|
rs771297945
|
0.00003
|
|
NM_032444.4(SLX4):c.4485G>C (p.Ala1495=)
|
rs140872903
|
0.00003
|
|
NM_032444.4(SLX4):c.4599T>C (p.Ala1533=)
|
rs1320958776
|
0.00003
|
|
NM_032444.4(SLX4):c.4686G>T (p.Pro1562=)
|
rs752013105
|
0.00003
|
|
NM_032444.4(SLX4):c.5265G>A (p.Ala1755=)
|
rs527440287
|
0.00003
|
|
NM_032444.4(SLX4):c.708G>A (p.Ala236=)
|
rs765742613
|
0.00003
|
|
NM_032634.4(PIGO):c.1020C>T (p.Ile340=)
|
rs777808521
|
0.00003
|
|
NM_032634.4(PIGO):c.1776C>G (p.Gly592=)
|
rs752370056
|
0.00003
|
|
NM_032634.4(PIGO):c.1935A>G (p.Thr645=)
|
rs138435332
|
0.00003
|
|
NM_032634.4(PIGO):c.2196C>T (p.Leu732=)
|
rs779088175
|
0.00003
|
|
NM_032634.4(PIGO):c.2205G>T (p.Leu735=)
|
rs565127635
|
0.00003
|
|
NM_032634.4(PIGO):c.2679G>A (p.Ser893=)
|
rs376154801
|
0.00003
|
|
NM_032634.4(PIGO):c.2763C>T (p.Phe921=)
|
rs150780733
|
0.00003
|
|
NM_032634.4(PIGO):c.2854+7C>A
|
rs768338180
|
0.00003
|
|
NM_032634.4(PIGO):c.3118G>A (p.Val1040Ile)
|
rs149439295
|
0.00003
|
|
NM_032634.4(PIGO):c.54C>T (p.Tyr18=)
|
rs773054712
|
0.00003
|
|
NM_032634.4(PIGO):c.816G>A (p.Leu272=)
|
rs760142386
|
0.00003
|
|
NM_032634.4(PIGO):c.942G>A (p.Glu314=)
|
rs764488316
|
0.00003
|
|
NM_058216.3(RAD51C):c.705+14T>C
|
rs771168730
|
0.00003
|
|
NM_058216.3(RAD51C):c.706-13C>G
|
rs747406535
|
0.00003
|
|
NM_058216.3(RAD51C):c.783A>G (p.Leu261=)
|
rs138643096
|
0.00003
|
|
NM_058216.3(RAD51C):c.905-19T>C
|
rs368114768
|
0.00003
|
|
NM_133433.4(NIPBL):c.2555A>G (p.Asn852Ser)
|
rs776280237
|
0.00003
|
|
NM_133433.4(NIPBL):c.2856G>A (p.Ala952=)
|
rs371566938
|
0.00003
|
|
NM_133433.4(NIPBL):c.4203A>G (p.Leu1401=)
|
rs1356246775
|
0.00003
|
|
NM_133433.4(NIPBL):c.458+18C>T
|
rs759013143
|
0.00003
|
|
NM_133433.4(NIPBL):c.4683G>C (p.Leu1561=)
|
rs756897581
|
0.00003
|
|
NM_133433.4(NIPBL):c.6613A>G (p.Ser2205Gly)
|
rs587784018
|
0.00003
|
|
NM_147127.5(EVC2):c.1887-6A>G
|
rs772186122
|
0.00003
|
|
NM_147127.5(EVC2):c.2160C>G (p.Thr720=)
|
rs749380539
|
0.00003
|
|
NM_147127.5(EVC2):c.2451C>T (p.Ala817=)
|
rs377709998
|
0.00003
|
|
NM_147127.5(EVC2):c.2501+20G>A
|
rs371570790
|
0.00003
|
|
NM_147127.5(EVC2):c.2571C>A (p.Gly857=)
|
rs533262793
|
0.00003
|
|
NM_147127.5(EVC2):c.2994G>A (p.Glu998=)
|
rs769447158
|
0.00003
|
|
NM_147127.5(EVC2):c.3272+16C>T
|
rs200378678
|
0.00003
|
|
NM_147127.5(EVC2):c.3660-10A>G
|
rs371900491
|
0.00003
|
|
NM_147127.5(EVC2):c.3732G>A (p.Leu1244=)
|
rs774269538
|
0.00003
|
|
NM_147127.5(EVC2):c.3882C>T (p.Asn1294=)
|
rs921952317
|
0.00003
|
|
NM_147127.5(EVC2):c.885C>T (p.His295=)
|
rs752378780
|
0.00003
|
|
NM_147127.5(EVC2):c.888C>T (p.Gly296=)
|
rs370515818
|
0.00003
|
|
NM_147127.5(EVC2):c.93C>T (p.Leu31=)
|
rs1217842109
|
0.00003
|
|
NM_153717.3(EVC):c.1059C>T (p.Ala353=)
|
rs756025432
|
0.00003
|
|
NM_153717.3(EVC):c.1206C>T (p.His402=)
|
rs756589627
|
0.00003
|
|
NM_153717.3(EVC):c.1349C>T (p.Ala450Val)
|
rs749008952
|
0.00003
|
|
NM_153717.3(EVC):c.1377G>A (p.Thr459=)
|
rs138725840
|
0.00003
|
|
NM_153717.3(EVC):c.1482G>A (p.Leu494=)
|
rs371300088
|
0.00003
|
|
NM_153717.3(EVC):c.1563+11T>A
|
rs1014470434
|
0.00003
|
|
NM_153717.3(EVC):c.1722C>T (p.Arg574=)
|
rs144637923
|
0.00003
|
|
NM_153717.3(EVC):c.1798C>T (p.Leu600=)
|
rs750023994
|
0.00003
|
|
NM_153717.3(EVC):c.180C>T (p.Asp60=)
|
rs755788871
|
0.00003
|
|
NM_153717.3(EVC):c.1851C>G (p.Arg617=)
|
rs967986192
|
0.00003
|
|
NM_153717.3(EVC):c.1956C>T (p.Arg652=)
|
rs535012160
|
0.00003
|
|
NM_153717.3(EVC):c.231G>A (p.Ser77=)
|
rs140615894
|
0.00003
|
|
NM_153717.3(EVC):c.2457G>A (p.Arg819=)
|
rs1243308266
|
0.00003
|
|
NM_153717.3(EVC):c.2529C>T (p.Gly843=)
|
rs377066936
|
0.00003
|
|
NM_153717.3(EVC):c.2535T>C (p.His845=)
|
rs773156946
|
0.00003
|
|
NM_153717.3(EVC):c.2649C>T (p.Val883=)
|
rs1483799016
|
0.00003
|
|
NM_173660.5(DOK7):c.1065C>T (p.Tyr355=)
|
rs200284964
|
0.00003
|
|
NM_173660.5(DOK7):c.1083C>T (p.Asp361=)
|
rs554026540
|
0.00003
|
|
NM_173660.5(DOK7):c.332-6C>G
|
rs1482072459
|
0.00003
|
|
NM_173660.5(DOK7):c.486C>T (p.Ala162=)
|
rs371609452
|
0.00003
|
|
NM_173660.5(DOK7):c.55-16C>T
|
rs976572936
|
0.00003
|
|
NM_173660.5(DOK7):c.564G>A (p.Glu188=)
|
rs375631042
|
0.00003
|
|
NM_173660.5(DOK7):c.773-18C>T
|
rs749706359
|
0.00003
|
|
NM_173660.5(DOK7):c.828C>T (p.Ser276=)
|
rs772682276
|
0.00003
|
|
NM_173660.5(DOK7):c.864C>G (p.Ser288=)
|
rs554816775
|
0.00003
|
|
NM_000079.4(CHRNA1):c.1329A>T (p.Leu443=)
|
rs779379425
|
0.00002
|
|
NM_000079.4(CHRNA1):c.895C>T (p.Leu299=)
|
rs768256648
|
0.00002
|
|
NM_000079.4(CHRNA1):c.942C>T (p.Ile314=)
|
rs200535960
|
0.00002
|
|
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys)
|
rs750257902
|
0.00002
|
|
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)
|
rs531100141
|
0.00002
|
|
NM_000135.4(FANCA):c.1226-12G>C
|
rs36011345
|
0.00002
|
|
NM_000135.4(FANCA):c.1236G>A (p.Ala412=)
|
rs371993688
|
0.00002
|
|
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys)
|
rs780135578
|
0.00002
|
|
NM_000135.4(FANCA):c.1254A>G (p.Ala418=)
|
rs757442919
|
0.00002
|
|
NM_000135.4(FANCA):c.1359+13C>T
|
rs754740338
|
0.00002
|
|
NM_000135.4(FANCA):c.1471-17C>T
|
rs750970650
|
0.00002
|
|
NM_000135.4(FANCA):c.1557C>T (p.Ala519=)
|
rs765079866
|
0.00002
|
|
NM_000135.4(FANCA):c.1567-11C>A
|
rs34353618
|
0.00002
|
|
NM_000135.4(FANCA):c.1627-4C>A
|
rs201163548
|
0.00002
|
|
NM_000135.4(FANCA):c.1627-7G>A
|
rs1208978768
|
0.00002
|
|
NM_000135.4(FANCA):c.1716-19C>G
|
rs372263763
|
0.00002
|
|
NM_000135.4(FANCA):c.1896A>G (p.Pro632=)
|
rs776251919
|
0.00002
|
|
NM_000135.4(FANCA):c.190-20T>C
|
rs755351504
|
0.00002
|
|
NM_000135.4(FANCA):c.1900+16G>A
|
rs757981356
|
0.00002
|
|
NM_000135.4(FANCA):c.1959C>T (p.Leu653=)
|
rs368643963
|
0.00002
|
|
NM_000135.4(FANCA):c.1969C>T (p.Leu657=)
|
rs889618840
|
0.00002
|
|
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)
|
rs587778312
|
0.00002
|
|
NM_000135.4(FANCA):c.2015-12C>T
|
rs769141220
|
0.00002
|
|
NM_000135.4(FANCA):c.2109G>C (p.Gln703His)
|
rs371458363
|
0.00002
|
|
NM_000135.4(FANCA):c.2151+20A>G
|
rs374555419
|
0.00002
|
|
NM_000135.4(FANCA):c.228A>G (p.Lys76=)
|
rs372180286
|
0.00002
|
|
NM_000135.4(FANCA):c.2317-10C>G
|
rs757166295
|
0.00002
|
|
NM_000135.4(FANCA):c.2383A>G (p.Arg795Gly)
|
rs767455904
|
0.00002
|
|
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)
|
rs762439008
|
0.00002
|
|
NM_000135.4(FANCA):c.2505-7T>C
|
rs374909752
|
0.00002
|
|
NM_000135.4(FANCA):c.2586A>C (p.Pro862=)
|
rs765499572
|
0.00002
|
|
NM_000135.4(FANCA):c.2610C>T (p.Phe870=)
|
rs201160735
|
0.00002
|
|
NM_000135.4(FANCA):c.2622A>G (p.Arg874=)
|
rs1441752228
|
0.00002
|
|
NM_000135.4(FANCA):c.2667C>T (p.Ala889=)
|
rs771425634
|
0.00002
|
|
NM_000135.4(FANCA):c.2778+18C>G
|
rs368370420
|
0.00002
|
|
NM_000135.4(FANCA):c.2778+7G>A
|
rs374581674
|
0.00002
|
|
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)
|
rs777825824
|
0.00002
|
|
NM_000135.4(FANCA):c.3348+19C>T
|
rs200217850
|
0.00002
|
|
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)
|
rs146062039
|
0.00002
|
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
|
NM_000135.4(FANCA):c.3626+10G>C
|
rs753929458
|
0.00002
|
|
NM_000135.4(FANCA):c.3627-17C>T
|
rs754751562
|
0.00002
|
|
NM_000135.4(FANCA):c.3714G>A (p.Arg1238=)
|
rs368437504
|
0.00002
|
|
NM_000135.4(FANCA):c.386C>T (p.Ala129Val)
|
rs577625130
|
0.00002
|
|
NM_000135.4(FANCA):c.3876C>T (p.Leu1292=)
|
rs878934420
|
0.00002
|
|
NM_000135.4(FANCA):c.393C>T (p.Thr131=)
|
rs1217316233
|
0.00002
|
|
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)
|
rs201886956
|
0.00002
|
|
NM_000135.4(FANCA):c.4117A>G (p.Thr1373Ala)
|
rs753944130
|
0.00002
|
|
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met)
|
rs145148206
|
0.00002
|
|
NM_000135.4(FANCA):c.427-20A>G
|
rs755584134
|
0.00002
|
|
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu)
|
rs769243354
|
0.00002
|
|
NM_000135.4(FANCA):c.4299C>T (p.Ser1433=)
|
rs568293451
|
0.00002
|
|
NM_000135.4(FANCA):c.492T>G (p.Leu164=)
|
rs951810885
|
0.00002
|
|
NM_000135.4(FANCA):c.57G>C (p.Arg19=)
|
rs930955916
|
0.00002
|
|
NM_000135.4(FANCA):c.596+14G>A
|
rs757255187
|
0.00002
|
|
NM_000135.4(FANCA):c.604G>A (p.Asp202Asn)
|
rs779131886
|
0.00002
|
|
NM_000135.4(FANCA):c.624G>A (p.Ser208=)
|
rs922099383
|
0.00002
|
|
NM_000135.4(FANCA):c.667G>A (p.Ala223Thr)
|
rs771195871
|
0.00002
|
|
NM_000135.4(FANCA):c.6C>G (p.Ser2=)
|
rs982258436
|
0.00002
|
|
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)
|
rs201992220
|
0.00002
|
|
NM_000135.4(FANCA):c.80-5C>T
|
rs777687671
|
0.00002
|
|
NM_000135.4(FANCA):c.831A>G (p.Ala277=)
|
rs773050347
|
0.00002
|
|
NM_000135.4(FANCA):c.87G>A (p.Arg29=)
|
rs760787108
|
0.00002
|
|
NM_000135.4(FANCA):c.888G>A (p.Arg296=)
|
rs942855447
|
0.00002
|
|
NM_000135.4(FANCA):c.946C>T (p.Leu316=)
|
rs775506986
|
0.00002
|
|
NM_000136.3(FANCC):c.-41A>G
|
rs768624552
|
0.00002
|
|
NM_000136.3(FANCC):c.1002G>A (p.Arg334=)
|
rs772717264
|
0.00002
|
|
NM_000136.3(FANCC):c.1161C>T (p.Cys387=)
|
rs548998258
|
0.00002
|
|
NM_000136.3(FANCC):c.1248C>T (p.Ala416=)
|
rs747051975
|
0.00002
|
|
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)
|
rs201063698
|
0.00002
|
|
NM_000136.3(FANCC):c.165+17A>G
|
rs1046183823
|
0.00002
|
|
NM_000136.3(FANCC):c.351A>G (p.Val117=)
|
rs754914546
|
0.00002
|
|
NM_000136.3(FANCC):c.457-7T>C
|
rs749994612
|
0.00002
|
|
NM_000136.3(FANCC):c.654G>A (p.Glu218=)
|
rs754705988
|
0.00002
|
|
NM_000136.3(FANCC):c.675G>A (p.Glu225=)
|
rs760906091
|
0.00002
|
|
NM_000136.3(FANCC):c.783A>T (p.Leu261=)
|
rs1060504646
|
0.00002
|
|
NM_000136.3(FANCC):c.897-19C>T
|
rs368830981
|
0.00002
|
|
NM_000136.3(FANCC):c.915C>T (p.Thr305=)
|
rs138132690
|
0.00002
|
|
NM_000136.3(FANCC):c.975T>G (p.Ala325=)
|
rs747463354
|
0.00002
|
|
NM_000136.3(FANCC):c.993G>A (p.Lys331=)
|
rs748582850
|
0.00002
|
|
NM_000751.3(CHRND):c.1047+16G>A
|
rs1287834322
|
0.00002
|
|
NM_000751.3(CHRND):c.1047+19G>A
|
rs749274268
|
0.00002
|
|
NM_000751.3(CHRND):c.1256G>A (p.Arg419Gln)
|
rs564930869
|
0.00002
|
|
NM_000751.3(CHRND):c.1371+10C>A
|
rs762637499
|
0.00002
|
|
NM_000751.3(CHRND):c.198+15G>A
|
rs764503079
|
0.00002
|
|
NM_000751.3(CHRND):c.315G>A (p.Pro105=)
|
rs770730077
|
0.00002
|
|
NM_000751.3(CHRND):c.893G>A (p.Arg298His)
|
rs139722128
|
0.00002
|
|
NM_000751.3(CHRND):c.932+16G>A
|
rs759403975
|
0.00002
|
|
NM_001018113.3(FANCB):c.1042T>C (p.Ser348Pro)
|
rs1425904046
|
0.00002
|
|
NM_001018113.3(FANCB):c.1079C>T (p.Thr360Met)
|
rs138192474
|
0.00002
|
|
NM_001018113.3(FANCB):c.1327-11_1327-10insC
|
rs1312589379
|
0.00002
|
|
NM_001018113.3(FANCB):c.1349G>A (p.Cys450Tyr)
|
rs764817410
|
0.00002
|
|
NM_001018113.3(FANCB):c.199A>G (p.Ile67Val)
|
rs761346761
|
0.00002
|
|
NM_001018113.3(FANCB):c.2301A>C (p.Leu767=)
|
rs962222970
|
0.00002
|
|
NM_001018113.3(FANCB):c.2327C>T (p.Ala776Val)
|
rs761492600
|
0.00002
|
|
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=)
|
rs1034395123
|
0.00002
|
|
NM_001018113.3(FANCB):c.2517T>C (p.Thr839=)
|
rs760440816
|
0.00002
|
|
NM_001018113.3(FANCB):c.2554G>A (p.Ala852Thr)
|
rs770685871
|
0.00002
|
|
NM_001018113.3(FANCB):c.458T>A (p.Ile153Asn)
|
rs749099779
|
0.00002
|
|
NM_001018113.3(FANCB):c.688C>T (p.Pro230Ser)
|
rs200970121
|
0.00002
|
|
NM_001018113.3(FANCB):c.741C>A (p.Ile247=)
|
rs760773732
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1014C>T (p.Ser338=)
|
rs527769128
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1317T>A (p.Ala439=)
|
rs368441247
|
0.00002
|
|
NM_001018115.3(FANCD2):c.1788C>A (p.Thr596=)
|
rs779249492
|
0.00002
|
|
NM_001018115.3(FANCD2):c.2586C>T (p.Ile862=)
|
rs367838566
|
0.00002
|
|
NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=)
|
rs766286504
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3683+19C>T
|
rs377723227
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3684-9G>A
|
rs748312392
|
0.00002
|
|
NM_001018115.3(FANCD2):c.377+17T>C
|
rs45593431
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3778-15A>G
|
rs755821273
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3871C>T (p.Leu1291=)
|
rs771698231
|
0.00002
|
|
NM_001018115.3(FANCD2):c.3964-10T>C
|
rs2302844
|
0.00002
|
|
NM_001018115.3(FANCD2):c.4053G>A (p.Thr1351=)
|
rs760800033
|
0.00002
|
|
NM_001018115.3(FANCD2):c.4209T>C (p.Asn1403=)
|
rs758210208
|
0.00002
|
|
NM_001018115.3(FANCD2):c.469T>C (p.Leu157=)
|
rs373600764
|
0.00002
|
|
NM_001018115.3(FANCD2):c.903T>A (p.Leu301=)
|
rs752360517
|
0.00002
|
|
NM_001113378.2(FANCI):c.1092C>T (p.Ile364=)
|
rs147055918
|
0.00002
|
|
NM_001113378.2(FANCI):c.1112+8G>C
|
rs761741904
|
0.00002
|
|
NM_001113378.2(FANCI):c.1176A>T (p.Ser392=)
|
rs201871288
|
0.00002
|
|
NM_001113378.2(FANCI):c.1513-16A>C
|
rs768296894
|
0.00002
|
|
NM_001113378.2(FANCI):c.1699-20T>C
|
rs770951736
|
0.00002
|
|
NM_001113378.2(FANCI):c.1716C>T (p.His572=)
|
rs750999079
|
0.00002
|
|
NM_001113378.2(FANCI):c.1822-7C>G
|
rs758739224
|
0.00002
|
|
NM_001113378.2(FANCI):c.1890+10A>G
|
rs201954421
|
0.00002
|
|
NM_001113378.2(FANCI):c.1923G>A (p.Leu641=)
|
rs750462548
|
0.00002
|
|
NM_001113378.2(FANCI):c.2454C>T (p.Phe818=)
|
rs747796401
|
0.00002
|
|
NM_001113378.2(FANCI):c.2636+20T>C
|
rs767625078
|
0.00002
|
|
NM_001113378.2(FANCI):c.3162C>T (p.His1054=)
|
rs746204528
|
0.00002
|
|
NM_001113378.2(FANCI):c.3549G>A (p.Val1183=)
|
rs774699547
|
0.00002
|
|
NM_001113378.2(FANCI):c.3925-4C>T
|
rs765962856
|
0.00002
|
|
NM_001113378.2(FANCI):c.503+11T>C
|
rs749071182
|
0.00002
|
|
NM_001113378.2(FANCI):c.755+9T>C
|
rs369467223
|
0.00002
|
|
NM_001113378.2(FANCI):c.975+7T>C
|
rs766659063
|
0.00002
|
|
NM_001113378.2(FANCI):c.976-5T>C
|
rs775680372
|
0.00002
|
|
NM_001113525.2(ZNF276):c.*480G>C
|
rs781731674
|
0.00002
|
|
NM_001113525.2(ZNF276):c.*732G>T
|
rs775180524
|
0.00002
|
|
NM_001271938.2(MEGF8):c.2724C>T (p.His908=)
|
rs752713774
|
0.00002
|
|
NM_001271938.2(MEGF8):c.5364C>T (p.His1788=)
|
rs1038902556
|
0.00002
|
|
NM_001271938.2(MEGF8):c.6540C>T (p.Asp2180=)
|
rs781099770
|
0.00002
|
|
NM_001271938.2(MEGF8):c.6834+11C>T
|
rs369152755
|
0.00002
|
|
NM_001271938.2(MEGF8):c.7099C>T (p.Leu2367=)
|
rs768745459
|
0.00002
|
|
NM_001346754.2(PIGW):c.1068A>G (p.Val356=)
|
rs781391447
|
0.00002
|
|
NM_001346754.2(PIGW):c.1410C>T (p.His470=)
|
rs773413994
|
0.00002
|
|
NM_001346754.2(PIGW):c.1497G>A (p.Lys499=)
|
rs772409187
|
0.00002
|
|
NM_001346754.2(PIGW):c.186T>C (p.Val62=)
|
rs951359490
|
0.00002
|
|
NM_001346754.2(PIGW):c.69C>T (p.Thr23=)
|
rs760295760
|
0.00002
|
|
NM_001346754.2(PIGW):c.963A>G (p.Gln321=)
|
rs1213857166
|
0.00002
|
|
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu)
|
rs372925840
|
0.00002
|
|
NM_001374353.1(GLI2):c.1632+10C>T
|
rs769094105
|
0.00002
|
|
NM_001374353.1(GLI2):c.2571C>G (p.Gly857=)
|
rs757164059
|
0.00002
|
|
NM_001374353.1(GLI2):c.30C>T (p.Ser10=)
|
rs145169912
|
0.00002
|
|
NM_001374353.1(GLI2):c.4242G>A (p.Pro1414=)
|
rs771337922
|
0.00002
|
|
NM_001429.4(EP300):c.108A>G (p.Leu36=)
|
rs374715858
|
0.00002
|
|
NM_001429.4(EP300):c.1575G>A (p.Pro525=)
|
rs772455986
|
0.00002
|
|
NM_001429.4(EP300):c.1781C>T (p.Thr594Met)
|
rs750740148
|
0.00002
|
|
NM_001429.4(EP300):c.1887C>T (p.Tyr629=)
|
rs144594889
|
0.00002
|
|
NM_001429.4(EP300):c.2766G>A (p.Ala922=)
|
rs370810144
|
0.00002
|
|
NM_001429.4(EP300):c.4235C>T (p.Ala1412Val)
|
rs887226313
|
0.00002
|
|
NM_001429.4(EP300):c.4980G>A (p.Thr1660=)
|
rs570470790
|
0.00002
|
|
NM_001429.4(EP300):c.579C>T (p.Asn193=)
|
rs376004661
|
0.00002
|
|
NM_001429.4(EP300):c.7191C>T (p.Thr2397=)
|
rs376984096
|
0.00002
|
|
NM_001429.4(EP300):c.907-10T>C
|
rs772628747
|
0.00002
|
|
NM_001999.4(FBN2):c.1079-10A>G
|
rs766920012
|
0.00002
|
|
NM_001999.4(FBN2):c.1194C>T (p.Ile398=)
|
rs766004910
|
0.00002
|
|
NM_001999.4(FBN2):c.1253T>C (p.Met418Thr)
|
rs769840338
|
0.00002
|
|
NM_001999.4(FBN2):c.125C>T (p.Pro42Leu)
|
rs773011327
|
0.00002
|
|
NM_001999.4(FBN2):c.1333A>G (p.Ser445Gly)
|
rs143515269
|
0.00002
|
|
NM_001999.4(FBN2):c.1410C>T (p.Gly470=)
|
rs750103822
|
0.00002
|
|
NM_001999.4(FBN2):c.1422C>T (p.Ala474=)
|
rs764073494
|
0.00002
|
|
NM_001999.4(FBN2):c.1434C>T (p.Ala478=)
|
rs755786214
|
0.00002
|
|
NM_001999.4(FBN2):c.150T>C (p.Ala50=)
|
rs543546489
|
0.00002
|
|
NM_001999.4(FBN2):c.1553G>A (p.Arg518Gln)
|
rs748051713
|
0.00002
|
|
NM_001999.4(FBN2):c.1685C>T (p.Ala562Val)
|
rs886059902
|
0.00002
|
|
NM_001999.4(FBN2):c.1734G>C (p.Glu578Asp)
|
rs371046485
|
0.00002
|
|
NM_001999.4(FBN2):c.1849+8A>G
|
rs747219934
|
0.00002
|
|
NM_001999.4(FBN2):c.1911C>G (p.Gly637=)
|
rs537558351
|
0.00002
|
|
NM_001999.4(FBN2):c.1961G>A (p.Arg654His)
|
rs780589159
|
0.00002
|
|
NM_001999.4(FBN2):c.2036C>T (p.Ser679Phe)
|
rs760483684
|
0.00002
|
|
NM_001999.4(FBN2):c.2219C>G (p.Pro740Arg)
|
rs1204171410
|
0.00002
|
|
NM_001999.4(FBN2):c.2532G>A (p.Arg844=)
|
rs369638207
|
0.00002
|
|
NM_001999.4(FBN2):c.255-15G>A
|
rs587780942
|
0.00002
|
|
NM_001999.4(FBN2):c.2638G>A (p.Gly880Ser)
|
rs555682061
|
0.00002
|
|
NM_001999.4(FBN2):c.2772C>T (p.Leu924=)
|
rs773453872
|
0.00002
|
|
NM_001999.4(FBN2):c.2802G>A (p.Arg934=)
|
rs140500093
|
0.00002
|
|
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp)
|
rs774248421
|
0.00002
|
|
NM_001999.4(FBN2):c.2990-8C>T
|
rs370825177
|
0.00002
|
|
NM_001999.4(FBN2):c.3041A>C (p.His1014Pro)
|
rs551801199
|
0.00002
|
|
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val)
|
rs754884110
|
0.00002
|
|
NM_001999.4(FBN2):c.3150G>A (p.Thr1050=)
|
rs201631085
|
0.00002
|
|
NM_001999.4(FBN2):c.3349G>A (p.Asp1117Asn)
|
rs537477883
|
0.00002
|
|
NM_001999.4(FBN2):c.3404C>T (p.Pro1135Leu)
|
rs772041342
|
0.00002
|
|
NM_001999.4(FBN2):c.3432A>G (p.Glu1144=)
|
rs757682009
|
0.00002
|
|
NM_001999.4(FBN2):c.362A>G (p.Asp121Gly)
|
rs770483769
|
0.00002
|
|
NM_001999.4(FBN2):c.3957C>G (p.Asp1319Glu)
|
rs769665538
|
0.00002
|
|
NM_001999.4(FBN2):c.3993A>G (p.Leu1331=)
|
rs141505866
|
0.00002
|
|
NM_001999.4(FBN2):c.4009A>G (p.Met1337Val)
|
rs776567929
|
0.00002
|
|
NM_001999.4(FBN2):c.404G>A (p.Gly135Glu)
|
rs778566871
|
0.00002
|
|
NM_001999.4(FBN2):c.4099+8T>C
|
rs765204163
|
0.00002
|
|
NM_001999.4(FBN2):c.4489T>G (p.Phe1497Val)
|
rs150986564
|
0.00002
|
|
NM_001999.4(FBN2):c.4497C>T (p.Asn1499=)
|
rs368341114
|
0.00002
|
|
NM_001999.4(FBN2):c.4779C>T (p.Cys1593=)
|
rs780191346
|
0.00002
|
|
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile)
|
rs762108847
|
0.00002
|
|
NM_001999.4(FBN2):c.4962C>T (p.Cys1654=)
|
rs753935960
|
0.00002
|
|
NM_001999.4(FBN2):c.5097T>A (p.His1699Gln)
|
rs757807339
|
0.00002
|
|
NM_001999.4(FBN2):c.5126A>G (p.Tyr1709Cys)
|
rs759117573
|
0.00002
|
|
NM_001999.4(FBN2):c.533-6A>G
|
rs56400997
|
0.00002
|
|
NM_001999.4(FBN2):c.5574T>C (p.Asp1858=)
|
rs757483263
|
0.00002
|
|
NM_001999.4(FBN2):c.5678G>A (p.Arg1893His)
|
rs368384428
|
0.00002
|
|
NM_001999.4(FBN2):c.5703C>T (p.Asn1901=)
|
rs746592808
|
0.00002
|
|
NM_001999.4(FBN2):c.5787G>A (p.Gln1929=)
|
rs746307443
|
0.00002
|
|
NM_001999.4(FBN2):c.5819G>A (p.Arg1940Gln)
|
rs749907917
|
0.00002
|
|
NM_001999.4(FBN2):c.5854G>A (p.Val1952Ile)
|
rs763393398
|
0.00002
|
|
NM_001999.4(FBN2):c.5941T>A (p.Phe1981Ile)
|
rs527609978
|
0.00002
|
|
NM_001999.4(FBN2):c.629-6T>C
|
rs757696693
|
0.00002
|
|
NM_001999.4(FBN2):c.672G>T (p.Met224Ile)
|
rs371292311
|
0.00002
|
|
NM_001999.4(FBN2):c.6881-5T>G
|
rs772186151
|
0.00002
|
|
NM_001999.4(FBN2):c.6973C>T (p.Pro2325Ser)
|
rs751231315
|
0.00002
|
|
NM_001999.4(FBN2):c.6984C>T (p.Ala2328=)
|
rs942158485
|
0.00002
|
|
NM_001999.4(FBN2):c.69G>T (p.Ala23=)
|
rs774856011
|
0.00002
|
|
NM_001999.4(FBN2):c.6G>C (p.Gly2=)
|
rs746567292
|
0.00002
|
|
NM_001999.4(FBN2):c.7137T>G (p.Leu2379=)
|
rs765676702
|
0.00002
|
|
NM_001999.4(FBN2):c.7138+10C>T
|
rs1187342807
|
0.00002
|
|
NM_001999.4(FBN2):c.7213G>A (p.Val2405Ile)
|
rs753865904
|
0.00002
|
|
NM_001999.4(FBN2):c.7247G>A (p.Arg2416Gln)
|
rs755437836
|
0.00002
|
|
NM_001999.4(FBN2):c.7389T>A (p.Gly2463=)
|
rs749843181
|
0.00002
|
|
NM_001999.4(FBN2):c.7400A>G (p.Asn2467Ser)
|
rs562508529
|
0.00002
|
|
NM_001999.4(FBN2):c.7595-13T>C
|
rs747620496
|
0.00002
|
|
NM_001999.4(FBN2):c.7660T>G (p.Phe2554Val)
|
rs775848753
|
0.00002
|
|
NM_001999.4(FBN2):c.7960+13T>G
|
rs1023942727
|
0.00002
|
|
NM_001999.4(FBN2):c.7961-10G>A
|
rs752746367
|
0.00002
|
|
NM_001999.4(FBN2):c.8019G>C (p.Leu2673=)
|
rs144013739
|
0.00002
|
|
NM_001999.4(FBN2):c.8573C>T (p.Thr2858Met)
|
rs754475064
|
0.00002
|
|
NM_001999.4(FBN2):c.891C>A (p.Gly297=)
|
rs539258943
|
0.00002
|
|
NM_002334.4(LRP4):c.105A>C (p.Ala35=)
|
rs766633369
|
0.00002
|
|
NM_002334.4(LRP4):c.1200C>T (p.Ala400=)
|
rs755019127
|
0.00002
|
|
NM_002334.4(LRP4):c.1209G>A (p.Gly403=)
|
rs751742961
|
0.00002
|
|
NM_002334.4(LRP4):c.1380C>T (p.Tyr460=)
|
rs373523952
|
0.00002
|
|
NM_002334.4(LRP4):c.1731C>G (p.Pro577=)
|
rs762761020
|
0.00002
|
|
NM_002334.4(LRP4):c.1824C>T (p.Ala608=)
|
rs368577516
|
0.00002
|
|
NM_002334.4(LRP4):c.228T>C (p.Phe76=)
|
rs146007685
|
0.00002
|
|
NM_002334.4(LRP4):c.2425-20C>T
|
rs760531886
|
0.00002
|
|
NM_002334.4(LRP4):c.2481C>G (p.Thr827=)
|
rs759325895
|
0.00002
|
|
NM_002334.4(LRP4):c.2910C>T (p.Ser970=)
|
rs754936858
|
0.00002
|
|
NM_002334.4(LRP4):c.3033C>T (p.Gly1011=)
|
rs534064794
|
0.00002
|
|
NM_002334.4(LRP4):c.3278-6C>T
|
rs373579793
|
0.00002
|
|
NM_002334.4(LRP4):c.3939C>T (p.Cys1313=)
|
rs779892727
|
0.00002
|
|
NM_002334.4(LRP4):c.4362G>A (p.Ala1454=)
|
rs775166531
|
0.00002
|
|
NM_002334.4(LRP4):c.471C>T (p.Asp157=)
|
rs765171137
|
0.00002
|
|
NM_002334.4(LRP4):c.5070G>T (p.Leu1690=)
|
rs369034386
|
0.00002
|
|
NM_002334.4(LRP4):c.5087+14A>G
|
rs376251083
|
0.00002
|
|
NM_002334.4(LRP4):c.5330A>C (p.Lys1777Thr)
|
rs541585714
|
0.00002
|
|
NM_002334.4(LRP4):c.548-20C>A
|
rs1267038625
|
0.00002
|
|
NM_002334.4(LRP4):c.585G>A (p.Glu195=)
|
rs147714102
|
0.00002
|
|
NM_002334.4(LRP4):c.923-16C>A
|
rs756847264
|
0.00002
|
|
NM_002968.3(SALL1):c.3720G>A (p.Ala1240=)
|
rs185996794
|
0.00002
|
|
NM_003289.4(TPM2):c.234C>T (p.Ala78=)
|
rs749197310
|
0.00002
|
|
NM_003289.4(TPM2):c.399G>A (p.Arg133=)
|
rs370635046
|
0.00002
|
|
NM_003289.4(TPM2):c.450G>A (p.Glu150=)
|
rs775425326
|
0.00002
|
|
NM_003289.4(TPM2):c.639+10A>G
|
rs749160249
|
0.00002
|
|
NM_003289.4(TPM2):c.759C>T (p.Ile253=)
|
rs1057524292
|
0.00002
|
|
NM_003334.4(UBA1):c.117+10C>T
|
rs1390029777
|
0.00002
|
|
NM_003334.4(UBA1):c.118-10C>T
|
rs1288832522
|
0.00002
|
|
NM_003334.4(UBA1):c.1234-9C>T
|
rs374680331
|
0.00002
|
|
NM_003334.4(UBA1):c.1294C>T (p.Leu432Phe)
|
rs781838601
|
0.00002
|
|
NM_003334.4(UBA1):c.1420-8C>T
|
rs782038176
|
0.00002
|
|
NM_003334.4(UBA1):c.1638A>G (p.Thr546=)
|
rs201169336
|
0.00002
|
|
NM_003334.4(UBA1):c.1851G>A (p.Ser617=)
|
rs782523119
|
0.00002
|
|
NM_003334.4(UBA1):c.1875T>C (p.Pro625=)
|
rs1361428166
|
0.00002
|
|
NM_003334.4(UBA1):c.2292T>C (p.Tyr764=)
|
rs782394637
|
0.00002
|
|
NM_003334.4(UBA1):c.2464+9_2464+16del
|
rs782707059
|
0.00002
|
|
NM_003334.4(UBA1):c.2465-17T>C
|
rs1354603007
|
0.00002
|
|
NM_003334.4(UBA1):c.2725C>T (p.Leu909=)
|
rs1268375603
|
0.00002
|
|
NM_003334.4(UBA1):c.2940+4A>G
|
rs782751765
|
0.00002
|
|
NM_003334.4(UBA1):c.2949C>T (p.His983=)
|
rs139697760
|
0.00002
|
|
NM_003334.4(UBA1):c.334C>T (p.Leu112Phe)
|
rs782536219
|
0.00002
|
|
NM_003334.4(UBA1):c.687C>T (p.Pro229=)
|
rs782311444
|
0.00002
|
|
NM_003334.4(UBA1):c.812-8C>T
|
rs1196797596
|
0.00002
|
|
NM_003334.4(UBA1):c.910-7G>A
|
rs782321523
|
0.00002
|
|
NM_003334.4(UBA1):c.93C>T (p.Ser31=)
|
rs782703384
|
0.00002
|
|
NM_003334.4(UBA1):c.954G>A (p.Thr318=)
|
rs368506746
|
0.00002
|
|
NM_004380.3(CREBBP):c.1331-4A>G
|
rs756291909
|
0.00002
|
|
NM_004380.3(CREBBP):c.2193C>T (p.Asn731=)
|
rs746813014
|
0.00002
|
|
NM_004380.3(CREBBP):c.2410G>A (p.Gly804Arg)
|
rs754981072
|
0.00002
|
|
NM_004380.3(CREBBP):c.2464-7C>G
|
rs772258017
|
0.00002
|
|
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser)
|
rs779000839
|
0.00002
|
|
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp)
|
rs774653315
|
0.00002
|
|
NM_004380.3(CREBBP):c.4394+8T>C
|
rs750961246
|
0.00002
|
|
NM_004380.3(CREBBP):c.4419C>T (p.Ala1473=)
|
rs370689343
|
0.00002
|
|
NM_004380.3(CREBBP):c.4812C>T (p.Asn1604=)
|
rs762565460
|
0.00002
|
|
NM_004380.3(CREBBP):c.6658G>A (p.Gly2220Ser)
|
rs141184151
|
0.00002
|
|
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=)
|
rs758454751
|
0.00002
|
|
NM_004380.3(CREBBP):c.759C>T (p.His253=)
|
rs548980748
|
0.00002
|
|
NM_004629.2(FANCG):c.1155C>T (p.Pro385=)
|
rs1217203217
|
0.00002
|
|
NM_004629.2(FANCG):c.1335G>A (p.Leu445=)
|
rs780612204
|
0.00002
|
|
NM_004629.2(FANCG):c.1581C>T (p.Ser527=)
|
rs768671803
|
0.00002
|
|
NM_004629.2(FANCG):c.1677G>A (p.Lys559=)
|
rs779403243
|
0.00002
|
|
NM_004629.2(FANCG):c.176-10G>A
|
rs376273679
|
0.00002
|
|
NM_004629.2(FANCG):c.308-8C>T
|
rs776375811
|
0.00002
|
|
NM_004629.2(FANCG):c.583T>C (p.Leu195=)
|
rs370461759
|
0.00002
|
|
NM_005055.5(RAPSN):c.1002C>T (p.Ser334=)
|
rs376829572
|
0.00002
|
|
NM_005055.5(RAPSN):c.1065C>T (p.Cys355=)
|
rs763094966
|
0.00002
|
|
NM_005055.5(RAPSN):c.1167-17G>A
|
rs770347768
|
0.00002
|
|
NM_005055.5(RAPSN):c.1194C>T (p.Ser398=)
|
rs1013183854
|
0.00002
|
|
NM_005055.5(RAPSN):c.726G>A (p.Arg242=)
|
rs754654883
|
0.00002
|
|
NM_005055.5(RAPSN):c.912+20A>G
|
rs763929869
|
0.00002
|
|
NM_005236.3(ERCC4):c.105C>T (p.Cys35=)
|
rs762885804
|
0.00002
|
|
NM_005236.3(ERCC4):c.1214-19T>C
|
rs747124669
|
0.00002
|
|
NM_005236.3(ERCC4):c.1452C>A (p.Thr484=)
|
rs1420641422
|
0.00002
|
|
NM_005236.3(ERCC4):c.1620G>A (p.Ser540=)
|
rs769817145
|
0.00002
|
|
NM_005236.3(ERCC4):c.2436G>A (p.Leu812=)
|
rs373510515
|
0.00002
|
|
NM_005236.3(ERCC4):c.2514T>C (p.Leu838=)
|
rs200069811
|
0.00002
|
|
NM_005236.3(ERCC4):c.2604C>T (p.His868=)
|
rs370809250
|
0.00002
|
|
NM_005236.3(ERCC4):c.2607C>T (p.His869=)
|
rs769736716
|
0.00002
|
|
NM_005236.3(ERCC4):c.540A>G (p.Arg180=)
|
rs765599689
|
0.00002
|
|
NM_005445.4(SMC3):c.1241C>T (p.Ala414Val)
|
rs555886077
|
0.00002
|
|
NM_005445.4(SMC3):c.1670+7G>A
|
rs762555190
|
0.00002
|
|
NM_005592.4(MUSK):c.1257A>G (p.Arg419=)
|
rs550568354
|
0.00002
|
|
NM_005592.4(MUSK):c.1716G>A (p.Arg572=)
|
rs747237685
|
0.00002
|
|
NM_005592.4(MUSK):c.1928-13C>A
|
rs779820360
|
0.00002
|
|
NM_005592.4(MUSK):c.1944G>A (p.Gly648=)
|
rs1206244035
|
0.00002
|
|
NM_005592.4(MUSK):c.2184C>A (p.Thr728=)
|
rs918997958
|
0.00002
|
|
NM_005592.4(MUSK):c.2442C>T (p.Tyr814=)
|
rs779578271
|
0.00002
|
|
NM_005592.4(MUSK):c.359-19A>G
|
rs751238962
|
0.00002
|
|
NM_005592.4(MUSK):c.481C>T (p.Leu161Phe)
|
rs1311636142
|
0.00002
|
|
NM_005592.4(MUSK):c.744C>T (p.Asn248=)
|
rs765006536
|
0.00002
|
|
NM_005592.4(MUSK):c.753+7G>C
|
rs193147263
|
0.00002
|
|
NM_005592.4(MUSK):c.978T>C (p.Asn326=)
|
rs563391603
|
0.00002
|
|
NM_006265.3(RAD21):c.1471-9T>C
|
rs763912364
|
0.00002
|
|
NM_006265.3(RAD21):c.1629T>C (p.Asp543=)
|
rs377080076
|
0.00002
|
|
NM_006265.3(RAD21):c.717C>T (p.Gly239=)
|
rs1293278125
|
0.00002
|
|
NM_006306.4(SMC1A):c.1290G>A (p.Glu430=)
|
rs369057648
|
0.00002
|
|
NM_006306.4(SMC1A):c.1546-5C>T
|
rs1556889651
|
0.00002
|
|
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=)
|
rs1210222346
|
0.00002
|
|
NM_006306.4(SMC1A):c.15A>G (p.Lys5=)
|
rs782396631
|
0.00002
|
|
NM_006306.4(SMC1A):c.1863C>T (p.Asn621=)
|
rs782665597
|
0.00002
|
|
NM_006306.4(SMC1A):c.2124G>A (p.Leu708=)
|
rs1309209851
|
0.00002
|
|
NM_006306.4(SMC1A):c.2205C>A (p.Ser735=)
|
rs1388876894
|
0.00002
|
|
NM_006306.4(SMC1A):c.2461T>C (p.Leu821=)
|
rs1198625423
|
0.00002
|
|
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=)
|
rs781991944
|
0.00002
|
|
NM_006306.4(SMC1A):c.2718C>G (p.Thr906=)
|
rs1556888013
|
0.00002
|
|
NM_006306.4(SMC1A):c.27T>C (p.Ile9=)
|
rs1396001151
|
0.00002
|
|
NM_006306.4(SMC1A):c.2838C>T (p.Thr946=)
|
rs782146571
|
0.00002
|
|
NM_006306.4(SMC1A):c.2886A>C (p.Ser962=)
|
rs782788248
|
0.00002
|
|
NM_006306.4(SMC1A):c.2949C>T (p.Tyr983=)
|
rs1390804289
|
0.00002
|
|
NM_006306.4(SMC1A):c.299-15T>G
|
rs782364230
|
0.00002
|
|
NM_006306.4(SMC1A):c.3003A>G (p.Gln1001=)
|
rs782049998
|
0.00002
|
|
NM_006306.4(SMC1A):c.3215C>G (p.Ala1072Gly)
|
rs782241632
|
0.00002
|
|
NM_006306.4(SMC1A):c.3267C>G (p.Ser1089=)
|
rs368345004
|
0.00002
|
|
NM_006306.4(SMC1A):c.3618+7C>T
|
rs782267492
|
0.00002
|
|
NM_006306.4(SMC1A):c.3619-16C>T
|
rs1556885717
|
0.00002
|
|
NM_006306.4(SMC1A):c.453G>A (p.Arg151=)
|
rs782287101
|
0.00002
|
|
NM_006306.4(SMC1A):c.652C>T (p.Arg218Trp)
|
rs782811561
|
0.00002
|
|
NM_006306.4(SMC1A):c.915C>T (p.Thr305=)
|
rs782522248
|
0.00002
|
|
NM_012243.3(SLC35A3):c.114A>G (p.Leu38=)
|
rs757521726
|
0.00002
|
|
NM_012243.3(SLC35A3):c.282T>C (p.Tyr94=)
|
rs912076311
|
0.00002
|
|
NM_012243.3(SLC35A3):c.54C>G (p.Thr18=)
|
rs1409412016
|
0.00002
|
|
NM_012243.3(SLC35A3):c.753+8A>G
|
rs781326156
|
0.00002
|
|
NM_013352.4(DSE):c.189G>A (p.Ser63=)
|
rs953029145
|
0.00002
|
|
NM_013352.4(DSE):c.2184G>A (p.Lys728=)
|
rs150939596
|
0.00002
|
|
NM_013352.4(DSE):c.2428C>G (p.Arg810Gly)
|
rs199731077
|
0.00002
|
|
NM_013352.4(DSE):c.2661A>G (p.Thr887=)
|
rs762839207
|
0.00002
|
|
NM_013352.4(DSE):c.2850C>T (p.Tyr950=)
|
rs751986225
|
0.00002
|
|
NM_013352.4(DSE):c.780G>A (p.Ala260=)
|
rs765697282
|
0.00002
|
|
NM_014918.5(CHSY1):c.255C>T (p.Asn85=)
|
rs775018701
|
0.00002
|
|
NM_014918.5(CHSY1):c.756C>T (p.Asp252=)
|
rs145660234
|
0.00002
|
|
NM_016277.5(RAB23):c.57A>G (p.Ala19=)
|
rs750598308
|
0.00002
|
|
NM_016277.5(RAB23):c.606C>T (p.Ser202=)
|
rs771204930
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1044C>T (p.Ala348=)
|
rs749267756
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1221G>A (p.Pro407=)
|
rs367567190
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1256-15G>A
|
rs200086842
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1308C>T (p.Phe436=)
|
rs758751583
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1357G>A (p.Val453Ile)
|
rs761629787
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1362C>T (p.Asn454=)
|
rs373152976
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1368C>T (p.Cys456=)
|
rs559866409
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1441+8G>A
|
rs765031085
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1555+18C>G
|
rs376982757
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1677G>A (p.Thr559=)
|
rs1391226025
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1731C>T (p.Tyr577=)
|
rs377472138
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1749C>T (p.Gly583=)
|
rs751367001
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1758C>A (p.Thr586=)
|
rs369523266
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1861C>T (p.Arg621Cys)
|
rs774622686
|
0.00002
|
|
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=)
|
rs752168856
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2014+7G>A
|
rs562353347
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2112C>T (p.Cys704=)
|
rs757495549
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2217C>T (p.Cys739=)
|
rs752226005
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2297G>T (p.Gly766Val)
|
rs374434131
|
0.00002
|
|
NM_017617.5(NOTCH1):c.242G>A (p.Gly81Asp)
|
rs749152413
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2468-20C>T
|
rs756381967
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2523C>T (p.Gly841=)
|
rs779908981
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2588-9G>T
|
rs757973986
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2741-18C>T
|
rs775954871
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2754C>T (p.Asn918=)
|
rs373787791
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2812C>T (p.Arg938Trp)
|
rs554142958
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2835C>G (p.Asp945Glu)
|
rs756174213
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2903C>T (p.Thr968Met)
|
rs781201059
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2928C>T (p.Ser976=)
|
rs534911025
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2937C>T (p.His979=)
|
rs1406216361
|
0.00002
|
|
NM_017617.5(NOTCH1):c.2969+7G>A
|
rs770026189
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3099C>T (p.Gly1033=)
|
rs775567314
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3171+8C>T
|
rs985717588
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3172-12A>G
|
rs547259185
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3325+9C>A
|
rs1413516206
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3503C>T (p.Ser1168Phe)
|
rs375190395
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3564C>T (p.Leu1188=)
|
rs367932079
|
0.00002
|
|
NM_017617.5(NOTCH1):c.363G>A (p.Thr121=)
|
rs777400734
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3642G>A (p.Gln1214=)
|
rs577243605
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3679C>T (p.Pro1227Ser)
|
rs777652834
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3777C>T (p.Phe1259=)
|
rs761586260
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3859C>T (p.Arg1287Cys)
|
rs751275854
|
0.00002
|
|
NM_017617.5(NOTCH1):c.3861C>T (p.Arg1287=)
|
rs758031388
|
0.00002
|
|
NM_017617.5(NOTCH1):c.393C>T (p.Pro131=)
|
rs1250243662
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4067G>A (p.Arg1356His)
|
rs864622727
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4251C>T (p.Pro1417=)
|
rs1453185145
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4308C>T (p.Ala1436=)
|
rs749702298
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4312C>T (p.Arg1438Cys)
|
rs746077264
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=)
|
rs376469653
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4329G>A (p.Pro1443=)
|
rs1466689418
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4587-11G>A
|
rs778356792
|
0.00002
|
|
NM_017617.5(NOTCH1):c.4698C>T (p.Pro1566=)
|
rs200462746
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5004C>T (p.Pro1668=)
|
rs1200928521
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5010C>T (p.Asp1670=)
|
rs780348772
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5167+19C>T
|
rs751046078
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5190G>A (p.Pro1730=)
|
rs369854704
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5340G>A (p.Lys1780=)
|
rs148187717
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5639-17C>T
|
rs749795813
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5830G>A (p.Ala1944Thr)
|
rs371414501
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5916C>T (p.Asp1972=)
|
rs1045892978
|
0.00002
|
|
NM_017617.5(NOTCH1):c.5934+8G>A
|
rs747822127
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=)
|
rs202198360
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=)
|
rs375920679
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6083-10T>G
|
rs1380449680
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6321C>T (p.His2107=)
|
rs532201830
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6366G>A (p.Pro2122=)
|
rs762003410
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6498G>A (p.Leu2166=)
|
rs201289055
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6749C>T (p.Ala2250Val)
|
rs777809068
|
0.00002
|
|
NM_017617.5(NOTCH1):c.6948C>T (p.Ser2316=)
|
rs771142030
|
0.00002
|
|
NM_017617.5(NOTCH1):c.7158G>A (p.Gln2386=)
|
rs371664086
|
0.00002
|
|
NM_017617.5(NOTCH1):c.7224G>A (p.Leu2408=)
|
rs761927126
|
0.00002
|
|
NM_017617.5(NOTCH1):c.723C>T (p.His241=)
|
rs11574873
|
0.00002
|
|
NM_017617.5(NOTCH1):c.7278C>T (p.Ser2426=)
|
rs757461161
|
0.00002
|
|
NM_017617.5(NOTCH1):c.7284C>T (p.His2428=)
|
rs1248029549
|
0.00002
|
|
NM_017617.5(NOTCH1):c.742+12C>T
|
rs1303732934
|
0.00002
|
|
NM_017617.5(NOTCH1):c.7458G>A (p.Ser2486=)
|
rs781225824
|
0.00002
|
|
NM_017617.5(NOTCH1):c.7605C>T (p.Gly2535=)
|
rs757253280
|
0.00002
|
|
NM_017617.5(NOTCH1):c.823G>A (p.Gly275Ser)
|
rs371333249
|
0.00002
|
|
NM_017617.5(NOTCH1):c.948C>T (p.His316=)
|
rs904456632
|
0.00002
|
|
NM_018062.4(FANCL):c.375-14C>G
|
rs1361463338
|
0.00002
|
|
NM_018062.4(FANCL):c.775+13A>C
|
rs764413990
|
0.00002
|
|
NM_018062.4(FANCL):c.969G>A (p.Val323=)
|
rs200819615
|
0.00002
|
|
NM_018486.3(HDAC8):c.281T>C (p.Ile94Thr)
|
rs1452290404
|
0.00002
|
|
NM_018486.3(HDAC8):c.318A>G (p.Glu106=)
|
rs1388554395
|
0.00002
|
|
NM_018486.3(HDAC8):c.429T>C (p.His143=)
|
rs374885534
|
0.00002
|
|
NM_018486.3(HDAC8):c.561C>T (p.Asp187=)
|
rs931276707
|
0.00002
|
|
NM_018486.3(HDAC8):c.756C>T (p.Tyr252=)
|
rs368682006
|
0.00002
|
|
NM_020937.4(FANCM):c.2161-9A>T
|
rs752101829
|
0.00002
|
|
NM_020937.4(FANCM):c.2628T>C (p.Asp876=)
|
rs374313777
|
0.00002
|
|
NM_020937.4(FANCM):c.3513T>C (p.Pro1171=)
|
rs771150480
|
0.00002
|
|
NM_020937.4(FANCM):c.3558T>C (p.Asn1186=)
|
rs757952471
|
0.00002
|
|
NM_020937.4(FANCM):c.3609T>G (p.Ser1203=)
|
rs372956385
|
0.00002
|
|
NM_020937.4(FANCM):c.4833G>A (p.Glu1611=)
|
rs1479169742
|
0.00002
|
|
NM_020937.4(FANCM):c.5208G>A (p.Leu1736=)
|
rs746368298
|
0.00002
|
|
NM_020937.4(FANCM):c.5250T>G (p.Pro1750=)
|
rs750305966
|
0.00002
|
|
NM_020937.4(FANCM):c.5340+18G>A
|
rs765324547
|
0.00002
|
|
NM_020937.4(FANCM):c.5341-18T>C
|
rs1479142290
|
0.00002
|
|
NM_020937.4(FANCM):c.5436G>A (p.Pro1812=)
|
rs377630399
|
0.00002
|
|
NM_020937.4(FANCM):c.5685T>C (p.Cys1895=)
|
rs746870942
|
0.00002
|
|
NM_020937.4(FANCM):c.63G>C (p.Gly21=)
|
rs563248675
|
0.00002
|
|
NM_020937.4(FANCM):c.681+12G>A
|
rs200644561
|
0.00002
|
|
NM_020937.4(FANCM):c.840T>C (p.Tyr280=)
|
rs777422576
|
0.00002
|
|
NM_020937.4(FANCM):c.996T>C (p.Tyr332=)
|
rs752677621
|
0.00002
|
|
NM_021922.3(FANCE):c.1237+8T>A
|
rs1767499963
|
0.00002
|
|
NM_021922.3(FANCE):c.1316+18C>T
|
rs768893669
|
0.00002
|
|
NM_021922.3(FANCE):c.1510-12C>G
|
rs747704642
|
0.00002
|
|
NM_021922.3(FANCE):c.399C>T (p.Leu133=)
|
rs1056749845
|
0.00002
|
|
NM_021922.3(FANCE):c.970-15G>A
|
rs369631267
|
0.00002
|
|
NM_021922.3(FANCE):c.981G>A (p.Leu327=)
|
rs772385794
|
0.00002
|
|
NM_022725.4(FANCF):c.279C>T (p.Leu93=)
|
rs199578614
|
0.00002
|
|
NM_022725.4(FANCF):c.654C>G (p.Pro218=)
|
rs779948183
|
0.00002
|
|
NM_023110.3(FGFR1):c.1178C>T (p.Ser393Leu)
|
rs369059499
|
0.00002
|
|
NM_023110.3(FGFR1):c.1663+10G>A
|
rs901498652
|
0.00002
|
|
NM_023110.3(FGFR1):c.1809C>T (p.Cys603=)
|
rs377314381
|
0.00002
|
|
NM_023110.3(FGFR1):c.1953C>T (p.Ile651=)
|
rs376421301
|
0.00002
|
|
NM_023110.3(FGFR1):c.2007C>T (p.Pro669=)
|
rs760681522
|
0.00002
|
|
NM_023110.3(FGFR1):c.2091C>T (p.Gly697=)
|
rs773144331
|
0.00002
|
|
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=)
|
rs774683007
|
0.00002
|
|
NM_023110.3(FGFR1):c.243C>T (p.Ile81=)
|
rs764340351
|
0.00002
|
|
NM_023110.3(FGFR1):c.288C>T (p.Ser96=)
|
rs757362905
|
0.00002
|
|
NM_023110.3(FGFR1):c.507G>A (p.Pro169=)
|
rs374145904
|
0.00002
|
|
NM_023110.3(FGFR1):c.549C>T (p.Thr183=)
|
rs886062920
|
0.00002
|
|
NM_023110.3(FGFR1):c.621+19G>A
|
rs945311072
|
0.00002
|
|
NM_023110.3(FGFR1):c.937-15C>T
|
rs966338298
|
0.00002
|
|
NM_032043.3(BRIP1):c.1340+7A>T
|
rs755399646
|
0.00002
|
|
NM_032043.3(BRIP1):c.1644T>C (p.Tyr548=)
|
rs372760869
|
0.00002
|
|
NM_032043.3(BRIP1):c.1752T>C (p.Thr584=)
|
rs778774207
|
0.00002
|
|
NM_032043.3(BRIP1):c.2258-15T>C
|
rs780573511
|
0.00002
|
|
NM_032043.3(BRIP1):c.2406C>T (p.Asp802=)
|
rs748981650
|
0.00002
|
|
NM_032043.3(BRIP1):c.2575+7T>A
|
rs750874535
|
0.00002
|
|
NM_032043.3(BRIP1):c.2751T>C (p.Ser917=)
|
rs150780318
|
0.00002
|
|
NM_032043.3(BRIP1):c.2804T>G (p.Val935Gly)
|
rs4988356
|
0.00002
|
|
NM_032043.3(BRIP1):c.2893A>C (p.Arg965=)
|
rs113697814
|
0.00002
|
|
NM_032043.3(BRIP1):c.2905+15T>G
|
rs749855085
|
0.00002
|
|
NM_032043.3(BRIP1):c.2905+4T>C
|
rs373835270
|
0.00002
|
|
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)
|
rs587781923
|
0.00002
|
|
NM_032043.3(BRIP1):c.3489T>C (p.Asp1163=)
|
rs144245485
|
0.00002
|
|
NM_032043.3(BRIP1):c.3546C>T (p.Ala1182=)
|
rs755440956
|
0.00002
|
|
NM_032043.3(BRIP1):c.507+14A>G
|
rs754102734
|
0.00002
|
|
NM_032043.3(BRIP1):c.507+20A>C
|
rs369270945
|
0.00002
|
|
NM_032043.3(BRIP1):c.736A>G (p.Ile246Val)
|
rs376893571
|
0.00002
|
|
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala)
|
rs138743097
|
0.00002
|
|
NM_032043.3(BRIP1):c.94-4A>G
|
rs765154059
|
0.00002
|
|
NM_032444.4(SLX4):c.1125A>G (p.Thr375=)
|
rs369510675
|
0.00002
|
|
NM_032444.4(SLX4):c.1163+8G>A
|
rs777094715
|
0.00002
|
|
NM_032444.4(SLX4):c.1404C>G (p.Pro468=)
|
rs765351696
|
0.00002
|
|
NM_032444.4(SLX4):c.1500G>A (p.Thr500=)
|
rs747483922
|
0.00002
|
|
NM_032444.4(SLX4):c.1782C>T (p.Gly594=)
|
rs1356071644
|
0.00002
|
|
NM_032444.4(SLX4):c.1806T>C (p.Pro602=)
|
rs925073189
|
0.00002
|
|
NM_032444.4(SLX4):c.1944C>T (p.Gly648=)
|
rs149315267
|
0.00002
|
|
NM_032444.4(SLX4):c.1977G>A (p.Ser659=)
|
rs572117922
|
0.00002
|
|
NM_032444.4(SLX4):c.2013+19C>T
|
rs1463441770
|
0.00002
|
|
NM_032444.4(SLX4):c.2013+20C>T
|
rs779231117
|
0.00002
|
|
NM_032444.4(SLX4):c.2013+8C>A
|
rs372272797
|
0.00002
|
|
NM_032444.4(SLX4):c.2055C>T (p.Val685=)
|
rs775934995
|
0.00002
|
|
NM_032444.4(SLX4):c.2169T>C (p.Asn723=)
|
rs750908864
|
0.00002
|
|
NM_032444.4(SLX4):c.2256G>A (p.Leu752=)
|
rs767795477
|
0.00002
|
|
NM_032444.4(SLX4):c.2301C>T (p.Ser767=)
|
rs555778729
|
0.00002
|
|
NM_032444.4(SLX4):c.2328-17G>A
|
rs766325618
|
0.00002
|
|
NM_032444.4(SLX4):c.2658T>G (p.Val886=)
|
rs769552773
|
0.00002
|
|
NM_032444.4(SLX4):c.3321G>A (p.Leu1107=)
|
rs367891675
|
0.00002
|
|
NM_032444.4(SLX4):c.3471G>A (p.Ser1157=)
|
rs748090102
|
0.00002
|
|
NM_032444.4(SLX4):c.3481C>T (p.Leu1161=)
|
rs371122297
|
0.00002
|
|
NM_032444.4(SLX4):c.3669G>A (p.Pro1223=)
|
rs200407926
|
0.00002
|
|
NM_032444.4(SLX4):c.36C>T (p.Phe12=)
|
rs775948210
|
0.00002
|
|
NM_032444.4(SLX4):c.3846G>A (p.Leu1282=)
|
rs1040333386
|
0.00002
|
|
NM_032444.4(SLX4):c.3951G>A (p.Pro1317=)
|
rs147600630
|
0.00002
|
|
NM_032444.4(SLX4):c.4116G>T (p.Arg1372=)
|
rs765606538
|
0.00002
|
|
NM_032444.4(SLX4):c.4377C>T (p.Asn1459=)
|
rs773941480
|
0.00002
|
|
NM_032444.4(SLX4):c.4449T>C (p.Thr1483=)
|
rs145444328
|
0.00002
|
|
NM_032444.4(SLX4):c.4539T>C (p.Val1513=)
|
rs146731362
|
0.00002
|
|
NM_032444.4(SLX4):c.4739+7G>A
|
rs748897456
|
0.00002
|
|
NM_032444.4(SLX4):c.4830C>T (p.Ser1610=)
|
rs370775954
|
0.00002
|
|
NM_032444.4(SLX4):c.4953T>C (p.Pro1651=)
|
rs1448549529
|
0.00002
|
|
NM_032444.4(SLX4):c.5106C>T (p.Ser1702=)
|
rs1421905027
|
0.00002
|
|
NM_032444.4(SLX4):c.5153+19T>C
|
rs374696176
|
0.00002
|
|
NM_032444.4(SLX4):c.5247G>A (p.Ala1749=)
|
rs775552034
|
0.00002
|
|
NM_032444.4(SLX4):c.5457G>A (p.Gln1819=)
|
rs1471160430
|
0.00002
|
|
NM_032444.4(SLX4):c.795C>T (p.Asp265=)
|
rs751115644
|
0.00002
|
|
NM_032444.4(SLX4):c.7C>T (p.Leu3=)
|
rs751472980
|
0.00002
|
|
NM_032444.4(SLX4):c.801G>A (p.Ala267=)
|
rs375643423
|
0.00002
|
|
NM_032444.4(SLX4):c.846G>A (p.Ser282=)
|
rs745750001
|
0.00002
|
|
NM_032634.4(PIGO):c.1749C>G (p.Leu583=)
|
rs377734849
|
0.00002
|
|
NM_032634.4(PIGO):c.1815T>G (p.Leu605=)
|
rs553734046
|
0.00002
|
|
NM_032634.4(PIGO):c.1918C>T (p.Arg640Cys)
|
rs552540556
|
0.00002
|
|
NM_032634.4(PIGO):c.2415G>A (p.Gln805=)
|
rs1419929157
|
0.00002
|
|
NM_032634.4(PIGO):c.2634C>T (p.Pro878=)
|
rs534875041
|
0.00002
|
|
NM_032634.4(PIGO):c.2647+12A>C
|
rs765544018
|
0.00002
|
|
NM_032634.4(PIGO):c.264A>C (p.Ser88=)
|
rs758614814
|
0.00002
|
|
NM_032634.4(PIGO):c.2854+10C>T
|
rs535228820
|
0.00002
|
|
NM_032634.4(PIGO):c.2889G>C (p.Leu963=)
|
rs959471469
|
0.00002
|
|
NM_032634.4(PIGO):c.3070-15C>T
|
rs201927771
|
0.00002
|
|
NM_032634.4(PIGO):c.3070-6C>T
|
rs751434613
|
0.00002
|
|
NM_032634.4(PIGO):c.3140+13G>C
|
rs374450091
|
0.00002
|
|
NM_032634.4(PIGO):c.537T>C (p.Asp179=)
|
rs761993139
|
0.00002
|
|
NM_032634.4(PIGO):c.807C>T (p.Asp269=)
|
rs369714563
|
0.00002
|
|
NM_032634.4(PIGO):c.940-9T>C
|
rs1056263001
|
0.00002
|
|
NM_058216.3(RAD51C):c.1089G>A (p.Leu363=)
|
rs559647198
|
0.00002
|
|
NM_058216.3(RAD51C):c.146-3C>T
|
rs765143155
|
0.00002
|
|
NM_058216.3(RAD51C):c.315A>G (p.Ser105=)
|
rs876660032
|
0.00002
|
|
NM_058216.3(RAD51C):c.453G>A (p.Val151=)
|
rs45553636
|
0.00002
|
|
NM_058216.3(RAD51C):c.513C>T (p.Asp171=)
|
rs140279158
|
0.00002
|
|
NM_058216.3(RAD51C):c.571+15G>T
|
rs375007340
|
0.00002
|
|
NM_058216.3(RAD51C):c.571+20T>C
|
rs577697136
|
0.00002
|
|
NM_058216.3(RAD51C):c.705+10A>G
|
rs377586976
|
0.00002
|
|
NM_058216.3(RAD51C):c.837+14A>G
|
rs1057517644
|
0.00002
|
|
NM_058216.3(RAD51C):c.904+17A>G
|
rs760664998
|
0.00002
|
|
NM_058216.3(RAD51C):c.945T>C (p.Phe315=)
|
rs201235884
|
0.00002
|
|
NM_058216.3(RAD51C):c.948T>C (p.His316=)
|
rs773196250
|
0.00002
|
|
NM_130468.4(CHST14):c.252C>T (p.Arg84=)
|
rs1377145039
|
0.00002
|
|
NM_130468.4(CHST14):c.861G>A (p.Gln287=)
|
rs772452727
|
0.00002
|
|
NM_133433.4(NIPBL):c.126T>C (p.Phe42=)
|
rs727504046
|
0.00002
|
|
NM_133433.4(NIPBL):c.1383A>G (p.Gln461=)
|
rs1488544687
|
0.00002
|
|
NM_133433.4(NIPBL):c.2616T>C (p.His872=)
|
rs750703789
|
0.00002
|
|
NM_133433.4(NIPBL):c.2877G>A (p.Pro959=)
|
rs1038314771
|
0.00002
|
|
NM_133433.4(NIPBL):c.300G>A (p.Leu100=)
|
rs768550843
|
0.00002
|
|
NM_133433.4(NIPBL):c.3018A>G (p.Gln1006=)
|
rs776669672
|
0.00002
|
|
NM_133433.4(NIPBL):c.3204T>C (p.Arg1068=)
|
rs768002739
|
0.00002
|
|
NM_133433.4(NIPBL):c.5226-4G>A
|
rs370826969
|
0.00002
|
|
NM_133433.4(NIPBL):c.8414A>G (p.Ter2805=)
|
rs778876578
|
0.00002
|
|
NM_147127.5(EVC2):c.1083C>T (p.Asn361=)
|
rs142231129
|
0.00002
|
|
NM_147127.5(EVC2):c.1169G>A (p.Arg390Gln)
|
rs367655073
|
0.00002
|
|
NM_147127.5(EVC2):c.1503C>G (p.Thr501=)
|
rs369530549
|
0.00002
|
|
NM_147127.5(EVC2):c.1608A>G (p.Glu536=)
|
rs201898124
|
0.00002
|
|
NM_147127.5(EVC2):c.1755G>A (p.Arg585=)
|
rs375393612
|
0.00002
|
|
NM_147127.5(EVC2):c.2046+20A>C
|
rs777490147
|
0.00002
|
|
NM_147127.5(EVC2):c.2073G>A (p.Ala691=)
|
rs765197478
|
0.00002
|
|
NM_147127.5(EVC2):c.2337G>A (p.Glu779=)
|
rs985968905
|
0.00002
|
|
NM_147127.5(EVC2):c.2350A>G (p.Met784Val)
|
rs202191109
|
0.00002
|
|
NM_147127.5(EVC2):c.2439C>T (p.Asp813=)
|
rs370538823
|
0.00002
|
|
NM_147127.5(EVC2):c.2502-19T>C
|
rs564320592
|
0.00002
|
|
NM_147127.5(EVC2):c.2637A>G (p.Gln879=)
|
rs749805702
|
0.00002
|
|
NM_147127.5(EVC2):c.2667C>T (p.Phe889=)
|
rs201173415
|
0.00002
|
|
NM_147127.5(EVC2):c.2707-9C>G
|
rs772234395
|
0.00002
|
|
NM_147127.5(EVC2):c.2949G>A (p.Ser983=)
|
rs755297128
|
0.00002
|
|
NM_147127.5(EVC2):c.3057+13G>A
|
rs770915834
|
0.00002
|
|
NM_147127.5(EVC2):c.3058-5T>C
|
rs765936867
|
0.00002
|
|
NM_147127.5(EVC2):c.3168G>C (p.Gly1056=)
|
rs778954685
|
0.00002
|
|
NM_147127.5(EVC2):c.3249A>G (p.Thr1083=)
|
rs779715707
|
0.00002
|
|
NM_147127.5(EVC2):c.3360+9G>A
|
rs747744305
|
0.00002
|
|
NM_147127.5(EVC2):c.3859G>A (p.Val1287Ile)
|
rs771435248
|
0.00002
|
|
NM_147127.5(EVC2):c.3891T>C (p.Asn1297=)
|
rs966509995
|
0.00002
|
|
NM_147127.5(EVC2):c.522G>A (p.Val174=)
|
rs140251602
|
0.00002
|
|
NM_147127.5(EVC2):c.753A>G (p.Gly251=)
|
rs369737795
|
0.00002
|
|
NM_147127.5(EVC2):c.792A>G (p.Gln264=)
|
rs1014985062
|
0.00002
|
|
NM_147127.5(EVC2):c.924C>T (p.Leu308=)
|
rs140800339
|
0.00002
|
|
NM_153717.3(EVC):c.1074C>T (p.Cys358=)
|
rs921573510
|
0.00002
|
|
NM_153717.3(EVC):c.114C>G (p.Leu38=)
|
rs1167442380
|
0.00002
|
|
NM_153717.3(EVC):c.1389G>A (p.Thr463=)
|
rs765596595
|
0.00002
|
|
NM_153717.3(EVC):c.1539C>T (p.Thr513=)
|
rs549251750
|
0.00002
|
|
NM_153717.3(EVC):c.1581C>T (p.Thr527=)
|
rs748792939
|
0.00002
|
|
NM_153717.3(EVC):c.1872C>T (p.Gly624=)
|
rs374432399
|
0.00002
|
|
NM_153717.3(EVC):c.2098-4C>G
|
rs771784128
|
0.00002
|
|
NM_153717.3(EVC):c.225C>T (p.Thr75=)
|
rs200161588
|
0.00002
|
|
NM_153717.3(EVC):c.2331G>A (p.Glu777=)
|
rs749197907
|
0.00002
|
|
NM_153717.3(EVC):c.2334C>T (p.Ser778=)
|
rs754983705
|
0.00002
|
|
NM_153717.3(EVC):c.2449+8A>C
|
rs575130220
|
0.00002
|
|
NM_153717.3(EVC):c.246A>G (p.Pro82=)
|
rs144606687
|
0.00002
|
|
NM_153717.3(EVC):c.2894+9G>C
|
rs776278582
|
0.00002
|
|
NM_153717.3(EVC):c.384+19A>G
|
rs200666993
|
0.00002
|
|
NM_153717.3(EVC):c.411G>A (p.Pro137=)
|
rs758770136
|
0.00002
|
|
NM_153717.3(EVC):c.474C>T (p.Ser158=)
|
rs751812626
|
0.00002
|
|
NM_153717.3(EVC):c.519C>T (p.Ser173=)
|
rs1287616282
|
0.00002
|
|
NM_153717.3(EVC):c.660C>T (p.Asp220=)
|
rs200294295
|
0.00002
|
|
NM_153717.3(EVC):c.702+8G>A
|
rs757444170
|
0.00002
|
|
NM_153717.3(EVC):c.801+16A>G
|
rs774227453
|
0.00002
|
|
NM_153717.3(EVC):c.801+8T>C
|
rs1388494242
|
0.00002
|
|
NM_173660.5(DOK7):c.101-16G>A
|
rs755933024
|
0.00002
|
|
NM_173660.5(DOK7):c.1059G>A (p.Ser353=)
|
rs781086422
|
0.00002
|
|
NM_173660.5(DOK7):c.1197C>T (p.Thr399=)
|
rs756540534
|
0.00002
|
|
NM_173660.5(DOK7):c.1314G>A (p.Thr438=)
|
rs371276345
|
0.00002
|
|
NM_173660.5(DOK7):c.1458G>A (p.Pro486=)
|
rs763843300
|
0.00002
|
|
NM_173660.5(DOK7):c.1506C>T (p.Pro502=)
|
rs753827494
|
0.00002
|
|
NM_173660.5(DOK7):c.321G>A (p.Ala107=)
|
rs769702844
|
0.00002
|
|
NM_173660.5(DOK7):c.453G>A (p.Gln151=)
|
rs764598148
|
0.00002
|
|
NM_173660.5(DOK7):c.54+31_54+32insT
|
rs1245236150
|
0.00002
|
|
NM_173660.5(DOK7):c.55-10G>A
|
rs886043943
|
0.00002
|
|
NM_173660.5(DOK7):c.55-19C>T
|
rs1316334613
|
0.00002
|
|
NM_000079.4(CHRNA1):c.1002+17C>G
|
rs777724002
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1003-9T>C
|
rs769523120
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1143C>T (p.Gly381=)
|
rs767048858
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1254G>A (p.Glu418=)
|
rs1553541913
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1269A>G (p.Ala423=)
|
rs761249168
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1314C>T (p.Cys438=)
|
rs137852808
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1332C>T (p.Ala444=)
|
rs771587252
|
0.00001
|
|
NM_000079.4(CHRNA1):c.270T>C (p.Asp90=)
|
rs746590795
|
0.00001
|
|
NM_000079.4(CHRNA1):c.327C>T (p.Asp109=)
|
rs1684006081
|
0.00001
|
|
NM_000079.4(CHRNA1):c.330T>C (p.Leu110=)
|
rs763984762
|
0.00001
|
|
NM_000079.4(CHRNA1):c.344+12G>C
|
rs774924187
|
0.00001
|
|
NM_000079.4(CHRNA1):c.345-14T>A
|
rs776569258
|
0.00001
|
|
NM_000079.4(CHRNA1):c.453C>T (p.Ile151=)
|
rs372122272
|
0.00001
|
|
NM_000079.4(CHRNA1):c.51C>T (p.Leu17=)
|
rs751402231
|
0.00001
|
|
NM_000079.4(CHRNA1):c.579C>T (p.Ser193=)
|
rs534185815
|
0.00001
|
|
NM_000079.4(CHRNA1):c.642C>T (p.Pro214=)
|
rs757027133
|
0.00001
|
|
NM_000079.4(CHRNA1):c.711C>T (p.Asn237=)
|
rs137852798
|
0.00001
|
|
NM_000079.4(CHRNA1):c.735C>T (p.Phe245=)
|
rs773397465
|
0.00001
|
|
NM_000079.4(CHRNA1):c.778+18G>A
|
rs375471139
|
0.00001
|
|
NM_000079.4(CHRNA1):c.840C>T (p.Ile280=)
|
rs754070026
|
0.00001
|
|
NM_000079.4(CHRNA1):c.924C>T (p.Ser308=)
|
rs1175922060
|
0.00001
|
|
NM_000135.4(FANCA):c.1006+10G>A
|
rs762536802
|
0.00001
|
|
NM_000135.4(FANCA):c.1007-7C>G
|
rs111271660
|
0.00001
|
|
NM_000135.4(FANCA):c.1068C>G (p.Thr356=)
|
rs1161525939
|
0.00001
|
|
NM_000135.4(FANCA):c.1077C>T (p.Tyr359=)
|
rs2040108827
|
0.00001
|
|
NM_000135.4(FANCA):c.1078C>T (p.Arg360Cys)
|
rs375895456
|
0.00001
|
|
NM_000135.4(FANCA):c.1084-18C>T
|
rs368730853
|
0.00001
|
|
NM_000135.4(FANCA):c.1084-7A>T
|
rs543350684
|
0.00001
|
|
NM_000135.4(FANCA):c.1137G>A (p.Leu379=)
|
rs372829977
|
0.00001
|
|
NM_000135.4(FANCA):c.1194C>T (p.Val398=)
|
rs1158857420
|
0.00001
|
|
NM_000135.4(FANCA):c.1203A>G (p.Pro401=)
|
rs1180493781
|
0.00001
|
|
NM_000135.4(FANCA):c.1221T>G (p.Leu407=)
|
rs780963734
|
0.00001
|
|
NM_000135.4(FANCA):c.1225+7T>C
|
rs200008791
|
0.00001
|
|
NM_000135.4(FANCA):c.1226-6A>T
|
rs200953509
|
0.00001
|
|
NM_000135.4(FANCA):c.1233G>A (p.Val411=)
|
rs781735964
|
0.00001
|
|
NM_000135.4(FANCA):c.1257C>T (p.Phe419=)
|
rs764140346
|
0.00001
|
|
NM_000135.4(FANCA):c.1284C>T (p.Val428=)
|
rs780409039
|
0.00001
|
|
NM_000135.4(FANCA):c.1305C>T (p.Arg435=)
|
rs756132296
|
0.00001
|
|
NM_000135.4(FANCA):c.1360-12C>T
|
rs951725614
|
0.00001
|
|
NM_000135.4(FANCA):c.1360-15C>G
|
rs773560865
|
0.00001
|
|
NM_000135.4(FANCA):c.1365C>T (p.Ser455=)
|
rs897548553
|
0.00001
|
|
NM_000135.4(FANCA):c.1380A>G (p.Arg460=)
|
rs1035276734
|
0.00001
|
|
NM_000135.4(FANCA):c.1416C>T (p.Phe472=)
|
rs750815711
|
0.00001
|
|
NM_000135.4(FANCA):c.1419G>C (p.Leu473=)
|
rs1337670144
|
0.00001
|
|
NM_000135.4(FANCA):c.1425G>A (p.Thr475=)
|
rs1330646289
|
0.00001
|
|
NM_000135.4(FANCA):c.1440C>T (p.Leu480=)
|
rs1401053307
|
0.00001
|
|
NM_000135.4(FANCA):c.1470+16C>T
|
rs929828617
|
0.00001
|
|
NM_000135.4(FANCA):c.1471-16T>C
|
rs1450990297
|
0.00001
|
|
NM_000135.4(FANCA):c.1471-8A>G
|
rs374717514
|
0.00001
|
|
NM_000135.4(FANCA):c.1485C>T (p.His495=)
|
rs773084743
|
0.00001
|
|
NM_000135.4(FANCA):c.1491C>T (p.Pro497=)
|
rs979593313
|
0.00001
|
|
NM_000135.4(FANCA):c.1500C>T (p.Pro500=)
|
rs139276494
|
0.00001
|
|
NM_000135.4(FANCA):c.1512C>T (p.Arg504=)
|
rs1298473070
|
0.00001
|
|
NM_000135.4(FANCA):c.1518C>A (p.Leu506=)
|
rs781524409
|
0.00001
|
|
NM_000135.4(FANCA):c.1521C>T (p.Leu507=)
|
rs2039775150
|
0.00001
|
|
NM_000135.4(FANCA):c.1563C>T (p.Leu521=)
|
rs995956285
|
0.00001
|
|
NM_000135.4(FANCA):c.1567-15G>C
|
rs748616829
|
0.00001
|
|
NM_000135.4(FANCA):c.1567-18T>C
|
rs771520715
|
0.00001
|
|
NM_000135.4(FANCA):c.1567-4G>A
|
rs1391630461
|
0.00001
|
|
NM_000135.4(FANCA):c.1567-7C>A
|
rs780475585
|
0.00001
|
|
NM_000135.4(FANCA):c.1567-9T>A
|
rs747184077
|
0.00001
|
|
NM_000135.4(FANCA):c.1587A>T (p.Gly529=)
|
rs1300063021
|
0.00001
|
|
NM_000135.4(FANCA):c.1590C>G (p.Leu530=)
|
rs773856680
|
0.00001
|
|
NM_000135.4(FANCA):c.1626+13G>C
|
rs1341742486
|
0.00001
|
|
NM_000135.4(FANCA):c.1627-13G>T
|
rs372205127
|
0.00001
|
|
NM_000135.4(FANCA):c.1627-15C>T
|
rs779706968
|
0.00001
|
|
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)
|
rs553129361
|
0.00001
|
|
NM_000135.4(FANCA):c.1689C>T (p.Asn563=)
|
rs773446807
|
0.00001
|
|
NM_000135.4(FANCA):c.1692C>T (p.Ile564=)
|
rs1176095983
|
0.00001
|
|
NM_000135.4(FANCA):c.1695A>T (p.Pro565=)
|
rs139181196
|
0.00001
|
|
NM_000135.4(FANCA):c.169C>T (p.Leu57=)
|
rs368828271
|
0.00001
|
|
NM_000135.4(FANCA):c.1701C>T (p.Thr567=)
|
rs745466726
|
0.00001
|
|
NM_000135.4(FANCA):c.1715+15C>T
|
rs755381554
|
0.00001
|
|
NM_000135.4(FANCA):c.1716-10T>G
|
rs1270971513
|
0.00001
|
|
NM_000135.4(FANCA):c.1725G>A (p.Arg575=)
|
rs551108542
|
0.00001
|
|
NM_000135.4(FANCA):c.1740G>A (p.Val580=)
|
rs1400163791
|
0.00001
|
|
NM_000135.4(FANCA):c.1776+10C>T
|
rs767506133
|
0.00001
|
|
NM_000135.4(FANCA):c.1777-10C>G
|
rs781605892
|
0.00001
|
|
NM_000135.4(FANCA):c.1777-4A>G
|
rs1422606508
|
0.00001
|
|
NM_000135.4(FANCA):c.177C>T (p.Ala59=)
|
rs1439661268
|
0.00001
|
|
NM_000135.4(FANCA):c.1803G>A (p.Val601=)
|
rs757053400
|
0.00001
|
|
NM_000135.4(FANCA):c.1833T>C (p.Asp611=)
|
rs749173228
|
0.00001
|
|
NM_000135.4(FANCA):c.1842C>A (p.Pro614=)
|
rs769546891
|
0.00001
|
|
NM_000135.4(FANCA):c.1857C>T (p.Ser619=)
|
rs754522096
|
0.00001
|
|
NM_000135.4(FANCA):c.1860C>A (p.Thr620=)
|
rs1041601770
|
0.00001
|
|
NM_000135.4(FANCA):c.1872C>A (p.Ala624=)
|
rs571449307
|
0.00001
|
|
NM_000135.4(FANCA):c.1889A>T (p.Glu630Val)
|
rs199599499
|
0.00001
|
|
NM_000135.4(FANCA):c.18C>T (p.Val6=)
|
rs916719756
|
0.00001
|
|
NM_000135.4(FANCA):c.1938T>C (p.Ala646=)
|
rs1429790431
|
0.00001
|
|
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)
|
rs748579719
|
0.00001
|
|
NM_000135.4(FANCA):c.2010T>C (p.Arg670=)
|
rs1335322113
|
0.00001
|
|
NM_000135.4(FANCA):c.2015-8C>T
|
rs747546976
|
0.00001
|
|
NM_000135.4(FANCA):c.2022G>A (p.Ser674=)
|
rs371997754
|
0.00001
|
|
NM_000135.4(FANCA):c.207T>C (p.Cys69=)
|
rs941660593
|
0.00001
|
|
NM_000135.4(FANCA):c.2085C>T (p.Ser695=)
|
rs746285925
|
0.00001
|
|
NM_000135.4(FANCA):c.2115C>T (p.Ser705=)
|
rs1158246204
|
0.00001
|
|
NM_000135.4(FANCA):c.2124G>A (p.Thr708=)
|
rs201668358
|
0.00001
|
|
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)
|
rs746373917
|
0.00001
|
|
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu)
|
rs148203537
|
0.00001
|
|
NM_000135.4(FANCA):c.2142G>A (p.Arg714=)
|
rs1387853957
|
0.00001
|
|
NM_000135.4(FANCA):c.2151+13G>A
|
rs554897273
|
0.00001
|
|
NM_000135.4(FANCA):c.2152-18A>G
|
rs760146323
|
0.00001
|
|
NM_000135.4(FANCA):c.2152-7T>C
|
rs763531092
|
0.00001
|
|
NM_000135.4(FANCA):c.2167C>T (p.Leu723=)
|
rs2039290580
|
0.00001
|
|
NM_000135.4(FANCA):c.2190G>A (p.Leu730=)
|
rs745845683
|
0.00001
|
|
NM_000135.4(FANCA):c.2199C>T (p.Ala733=)
|
rs757095786
|
0.00001
|
|
NM_000135.4(FANCA):c.2222+10C>T
|
rs770711287
|
0.00001
|
|
NM_000135.4(FANCA):c.2222+14del
|
rs1423390984
|
0.00001
|
|
NM_000135.4(FANCA):c.2222+17C>T
|
rs755657610
|
0.00001
|
|
NM_000135.4(FANCA):c.2223-15C>T
|
rs775834091
|
0.00001
|
|
NM_000135.4(FANCA):c.2226G>A (p.Gln742=)
|
rs1336946372
|
0.00001
|
|
NM_000135.4(FANCA):c.2247C>T (p.Phe749=)
|
rs772842754
|
0.00001
|
|
NM_000135.4(FANCA):c.2295C>G (p.Leu765=)
|
rs1193622990
|
0.00001
|
|
NM_000135.4(FANCA):c.2316+19G>A
|
rs1421219472
|
0.00001
|
|
NM_000135.4(FANCA):c.2316+7C>G
|
rs1366206489
|
0.00001
|
|
NM_000135.4(FANCA):c.2317-6T>C
|
rs760617819
|
0.00001
|
|
NM_000135.4(FANCA):c.2322G>A (p.Pro774=)
|
rs931091451
|
0.00001
|
|
NM_000135.4(FANCA):c.2326C>T (p.Leu776=)
|
rs527300192
|
0.00001
|
|
NM_000135.4(FANCA):c.2394C>T (p.Leu798=)
|
rs765883419
|
0.00001
|
|
NM_000135.4(FANCA):c.2448G>A (p.Ala816=)
|
rs752705496
|
0.00001
|
|
NM_000135.4(FANCA):c.2481G>A (p.Arg827=)
|
rs749895479
|
0.00001
|
|
NM_000135.4(FANCA):c.2487C>T (p.Ser829=)
|
rs776013293
|
0.00001
|
|
NM_000135.4(FANCA):c.2502G>A (p.Leu834=)
|
rs770993950
|
0.00001
|
|
NM_000135.4(FANCA):c.2504+10T>G
|
rs770043372
|
0.00001
|
|
NM_000135.4(FANCA):c.2517A>G (p.Ala839=)
|
rs1325322271
|
0.00001
|
|
NM_000135.4(FANCA):c.2601+10C>G
|
rs745601855
|
0.00001
|
|
NM_000135.4(FANCA):c.2601+15T>C
|
rs373423046
|
0.00001
|
|
NM_000135.4(FANCA):c.2601+20A>C
|
rs557565599
|
0.00001
|
|
NM_000135.4(FANCA):c.2602-10T>C
|
rs899604473
|
0.00001
|
|
NM_000135.4(FANCA):c.2602-20C>T
|
rs752731568
|
0.00001
|
|
NM_000135.4(FANCA):c.2602-8T>C
|
rs772897825
|
0.00001
|
|
NM_000135.4(FANCA):c.2602-9C>G
|
rs1406509004
|
0.00001
|
|
NM_000135.4(FANCA):c.2613C>T (p.Leu871=)
|
rs532032511
|
0.00001
|
|
NM_000135.4(FANCA):c.2628C>T (p.Phe876=)
|
rs368987148
|
0.00001
|
|
NM_000135.4(FANCA):c.2700T>G (p.Ser900=)
|
rs755783870
|
0.00001
|
|
NM_000135.4(FANCA):c.2730C>T (p.Leu910=)
|
rs749774911
|
0.00001
|
|
NM_000135.4(FANCA):c.2748C>T (p.Phe916=)
|
rs755154360
|
0.00001
|
|
NM_000135.4(FANCA):c.2778+14C>T
|
rs767053728
|
0.00001
|
|
NM_000135.4(FANCA):c.2779-9C>G
|
rs764825402
|
0.00001
|
|
NM_000135.4(FANCA):c.283+18T>A
|
rs1266280397
|
0.00001
|
|
NM_000135.4(FANCA):c.283+9T>C
|
rs779593295
|
0.00001
|
|
NM_000135.4(FANCA):c.284-9G>A
|
rs367672895
|
0.00001
|
|
NM_000135.4(FANCA):c.2852+13A>T
|
rs189890126
|
0.00001
|
|
NM_000135.4(FANCA):c.2852+8T>C
|
rs763249422
|
0.00001
|
|
NM_000135.4(FANCA):c.2874G>A (p.Ala958=)
|
rs199916178
|
0.00001
|
|
NM_000135.4(FANCA):c.2904G>T (p.Ser968=)
|
rs568354015
|
0.00001
|
|
NM_000135.4(FANCA):c.2922C>T (p.Asp974=)
|
rs756241886
|
0.00001
|
|
NM_000135.4(FANCA):c.2937T>C (p.Ala979=)
|
rs762638564
|
0.00001
|
|
NM_000135.4(FANCA):c.2940G>A (p.Ala980=)
|
rs769418220
|
0.00001
|
|
NM_000135.4(FANCA):c.2981+12A>G
|
rs1416505835
|
0.00001
|
|
NM_000135.4(FANCA):c.2982-17T>C
|
rs763475096
|
0.00001
|
|
NM_000135.4(FANCA):c.2994T>C (p.Tyr998=)
|
rs758384536
|
0.00001
|
|
NM_000135.4(FANCA):c.3003A>C (p.Ser1001=)
|
rs2038619241
|
0.00001
|
|
NM_000135.4(FANCA):c.3067-20A>C
|
rs1213920786
|
0.00001
|
|
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=)
|
rs35402142
|
0.00001
|
|
NM_000135.4(FANCA):c.3108G>C (p.Val1036=)
|
rs759859528
|
0.00001
|
|
NM_000135.4(FANCA):c.312G>A (p.Arg104=)
|
rs937043976
|
0.00001
|
|
NM_000135.4(FANCA):c.3153T>C (p.Ile1051=)
|
rs1401723593
|
0.00001
|
|
NM_000135.4(FANCA):c.3162A>G (p.Arg1054=)
|
rs778275451
|
0.00001
|
|
NM_000135.4(FANCA):c.3186G>A (p.Gly1062=)
|
rs2038517320
|
0.00001
|
|
NM_000135.4(FANCA):c.318G>T (p.Gly106=)
|
rs1288618851
|
0.00001
|
|
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=)
|
rs768502785
|
0.00001
|
|
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)
|
rs140124051
|
0.00001
|
|
NM_000135.4(FANCA):c.3223C>T (p.Leu1075=)
|
rs751987951
|
0.00001
|
|
NM_000135.4(FANCA):c.3239+18C>G
|
rs781742623
|
0.00001
|
|
NM_000135.4(FANCA):c.3239+8C>G
|
rs2038514547
|
0.00001
|
|
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)
|
rs753864057
|
0.00001
|
|
NM_000135.4(FANCA):c.324C>T (p.Pro108=)
|
rs775822054
|
0.00001
|
|
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=)
|
rs762719233
|
0.00001
|
|
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)
|
rs772828870
|
0.00001
|
|
NM_000135.4(FANCA):c.3300C>T (p.Pro1100=)
|
rs1372873475
|
0.00001
|
|
NM_000135.4(FANCA):c.3321G>A (p.Gln1107=)
|
rs1276452090
|
0.00001
|
|
NM_000135.4(FANCA):c.3349-14G>A
|
rs1248372954
|
0.00001
|
|
NM_000135.4(FANCA):c.3349-17C>T
|
rs962847137
|
0.00001
|
|
NM_000135.4(FANCA):c.3349-5T>C
|
rs1055846604
|
0.00001
|
|
NM_000135.4(FANCA):c.3349-9C>G
|
rs1463228706
|
0.00001
|
|
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=)
|
rs878853664
|
0.00001
|
|
NM_000135.4(FANCA):c.3366C>T (p.His1122=)
|
rs771815968
|
0.00001
|
|
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=)
|
rs946344673
|
0.00001
|
|
NM_000135.4(FANCA):c.33G>C (p.Ser11=)
|
rs1159682058
|
0.00001
|
|
NM_000135.4(FANCA):c.3409-16G>C
|
rs1340274026
|
0.00001
|
|
NM_000135.4(FANCA):c.3409-4G>T
|
rs2038401980
|
0.00001
|
|
NM_000135.4(FANCA):c.3447C>T (p.Ser1149=)
|
rs2038400334
|
0.00001
|
|
NM_000135.4(FANCA):c.3448C>T (p.Leu1150=)
|
rs369073173
|
0.00001
|
|
NM_000135.4(FANCA):c.3450G>A (p.Leu1150=)
|
rs1266179547
|
0.00001
|
|
NM_000135.4(FANCA):c.3483G>A (p.Thr1161=)
|
rs768306527
|
0.00001
|
|
NM_000135.4(FANCA):c.3513+7C>G
|
rs2038397980
|
0.00001
|
|
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)
|
rs765106818
|
0.00001
|
|
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)
|
rs201492940
|
0.00001
|
|
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)
|
rs748713183
|
0.00001
|
|
NM_000135.4(FANCA):c.3558G>A (p.Arg1186=)
|
rs1248260786
|
0.00001
|
|
NM_000135.4(FANCA):c.3561A>G (p.Arg1187=)
|
rs781679210
|
0.00001
|
|
NM_000135.4(FANCA):c.3594G>A (p.Gln1198=)
|
rs935013716
|
0.00001
|
|
NM_000135.4(FANCA):c.3612G>A (p.Arg1204=)
|
rs762402959
|
0.00001
|
|
NM_000135.4(FANCA):c.3626+7G>A
|
rs933657325
|
0.00001
|
|
NM_000135.4(FANCA):c.3627-16G>A
|
rs369154534
|
0.00001
|
|
NM_000135.4(FANCA):c.3627-4C>T
|
rs2062172483
|
0.00001
|
|
NM_000135.4(FANCA):c.3627-5C>G
|
rs1417894512
|
0.00001
|
|
NM_000135.4(FANCA):c.3651C>T (p.Ser1217=)
|
rs1351099497
|
0.00001
|
|
NM_000135.4(FANCA):c.3660C>T (p.Pro1220=)
|
rs751703958
|
0.00001
|
|
NM_000135.4(FANCA):c.3690G>A (p.Leu1230=)
|
rs1369764790
|
0.00001
|
|
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu)
|
rs769919783
|
0.00001
|
|
NM_000135.4(FANCA):c.3720A>G (p.Glu1240=)
|
rs2062170339
|
0.00001
|
|
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)
|
rs745665658
|
0.00001
|
|
NM_000135.4(FANCA):c.3736C>T (p.Leu1246=)
|
rs2062169927
|
0.00001
|
|
NM_000135.4(FANCA):c.3738A>G (p.Leu1246=)
|
rs2062169862
|
0.00001
|
|
NM_000135.4(FANCA):c.3765+16C>A
|
rs745639466
|
0.00001
|
|
NM_000135.4(FANCA):c.3768A>G (p.Leu1256=)
|
rs747616573
|
0.00001
|
|
NM_000135.4(FANCA):c.3802C>T (p.Leu1268=)
|
rs143982249
|
0.00001
|
|
NM_000135.4(FANCA):c.3804G>A (p.Leu1268=)
|
rs1449170388
|
0.00001
|
|
NM_000135.4(FANCA):c.3805C>T (p.Leu1269=)
|
rs757641646
|
0.00001
|
|
NM_000135.4(FANCA):c.3822C>T (p.Thr1274=)
|
rs1382340096
|
0.00001
|
|
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)
|
rs768380959
|
0.00001
|
|
NM_000135.4(FANCA):c.3857A>C (p.His1286Pro)
|
rs138620653
|
0.00001
|
|
NM_000135.4(FANCA):c.3858C>T (p.His1286=)
|
rs761705192
|
0.00001
|
|
NM_000135.4(FANCA):c.3861T>A (p.Val1287=)
|
rs1227504086
|
0.00001
|
|
NM_000135.4(FANCA):c.3870A>G (p.Ala1290=)
|
rs780156842
|
0.00001
|
|
NM_000135.4(FANCA):c.387G>A (p.Ala129=)
|
rs1181727153
|
0.00001
|
|
NM_000135.4(FANCA):c.3951G>C (p.Arg1317=)
|
rs1439529670
|
0.00001
|
|
NM_000135.4(FANCA):c.3954C>G (p.Leu1318=)
|
rs187297609
|
0.00001
|
|
NM_000135.4(FANCA):c.3960C>T (p.Leu1320=)
|
rs541385700
|
0.00001
|
|
NM_000135.4(FANCA):c.3969C>T (p.Ala1323=)
|
rs1337959697
|
0.00001
|
|
NM_000135.4(FANCA):c.3972G>C (p.Pro1324=)
|
rs1446370085
|
0.00001
|
|
NM_000135.4(FANCA):c.39G>C (p.Gln13His)
|
rs1486155993
|
0.00001
|
|
NM_000135.4(FANCA):c.4029T>C (p.His1343=)
|
rs745577614
|
0.00001
|
|
NM_000135.4(FANCA):c.414T>G (p.Thr138=)
|
rs574311470
|
0.00001
|
|
NM_000135.4(FANCA):c.4183C>T (p.Leu1395=)
|
rs780156946
|
0.00001
|
|
NM_000135.4(FANCA):c.4210C>T (p.Leu1404=)
|
rs1379441535
|
0.00001
|
|
NM_000135.4(FANCA):c.4251C>T (p.His1417=)
|
rs752333498
|
0.00001
|
|
NM_000135.4(FANCA):c.4254G>C (p.Val1418=)
|
rs200284171
|
0.00001
|
|
NM_000135.4(FANCA):c.4264C>T (p.Leu1422=)
|
rs753660236
|
0.00001
|
|
NM_000135.4(FANCA):c.427-6T>C
|
rs1295402252
|
0.00001
|
|
NM_000135.4(FANCA):c.4329C>T (p.Ala1443=)
|
rs371228419
|
0.00001
|
|
NM_000135.4(FANCA):c.4338T>C (p.Ala1446=)
|
rs746256466
|
0.00001
|
|
NM_000135.4(FANCA):c.441C>T (p.Ser147=)
|
rs772133367
|
0.00001
|
|
NM_000135.4(FANCA):c.483C>T (p.Phe161=)
|
rs769389376
|
0.00001
|
|
NM_000135.4(FANCA):c.486C>T (p.Ser162=)
|
rs2040845636
|
0.00001
|
|
NM_000135.4(FANCA):c.522+8T>A
|
rs764367299
|
0.00001
|
|
NM_000135.4(FANCA):c.523-20T>C
|
rs773036631
|
0.00001
|
|
NM_000135.4(FANCA):c.546G>A (p.Val182=)
|
rs766417293
|
0.00001
|
|
NM_000135.4(FANCA):c.561A>T (p.Val187=)
|
rs1050053060
|
0.00001
|
|
NM_000135.4(FANCA):c.582A>G (p.Gln194=)
|
rs748517164
|
0.00001
|
|
NM_000135.4(FANCA):c.589C>T (p.Leu197=)
|
rs755202969
|
0.00001
|
|
NM_000135.4(FANCA):c.591G>A (p.Leu197=)
|
rs1567650751
|
0.00001
|
|
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys)
|
rs376307136
|
0.00001
|
|
NM_000135.4(FANCA):c.603C>T (p.Pro201=)
|
rs542064386
|
0.00001
|
|
NM_000135.4(FANCA):c.606C>T (p.Asp202=)
|
rs1431969235
|
0.00001
|
|
NM_000135.4(FANCA):c.60G>A (p.Arg20=)
|
rs1321607523
|
0.00001
|
|
NM_000135.4(FANCA):c.612T>C (p.His204=)
|
rs1226994862
|
0.00001
|
|
NM_000135.4(FANCA):c.630C>T (p.Leu210=)
|
rs781089592
|
0.00001
|
|
NM_000135.4(FANCA):c.642G>C (p.Leu214=)
|
rs751215437
|
0.00001
|
|
NM_000135.4(FANCA):c.675C>T (p.Cys225=)
|
rs367717307
|
0.00001
|
|
NM_000135.4(FANCA):c.684T>C (p.Ala228=)
|
rs1354391809
|
0.00001
|
|
NM_000135.4(FANCA):c.687C>T (p.Asp229=)
|
rs1598177104
|
0.00001
|
|
NM_000135.4(FANCA):c.693C>T (p.Ala231=)
|
rs779839381
|
0.00001
|
|
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)
|
rs886052487
|
0.00001
|
|
NM_000135.4(FANCA):c.69C>T (p.Ala23=)
|
rs746429608
|
0.00001
|
|
NM_000135.4(FANCA):c.710-8T>C
|
rs181310336
|
0.00001
|
|
NM_000135.4(FANCA):c.79+18G>C
|
rs1214190329
|
0.00001
|
|
NM_000135.4(FANCA):c.79+8G>T
|
rs1210341859
|
0.00001
|
|
NM_000135.4(FANCA):c.792+15C>G
|
rs199866285
|
0.00001
|
|
NM_000135.4(FANCA):c.793-11T>C
|
rs1030329914
|
0.00001
|
|
NM_000135.4(FANCA):c.793-12C>G
|
rs746312984
|
0.00001
|
|
NM_000135.4(FANCA):c.793-15A>G
|
rs772612378
|
0.00001
|
|
NM_000135.4(FANCA):c.797C>T (p.Thr266Met)
|
rs752799441
|
0.00001
|
|
NM_000135.4(FANCA):c.80-4G>T
|
rs747881254
|
0.00001
|
|
NM_000135.4(FANCA):c.80-8C>T
|
rs749080227
|
0.00001
|
|
NM_000135.4(FANCA):c.807A>C (p.Val269=)
|
rs766352671
|
0.00001
|
|
NM_000135.4(FANCA):c.827-16C>G
|
rs758496205
|
0.00001
|
|
NM_000135.4(FANCA):c.827-17C>G
|
rs1483669797
|
0.00001
|
|
NM_000135.4(FANCA):c.891C>T (p.Cys297=)
|
rs1210939756
|
0.00001
|
|
NM_000135.4(FANCA):c.893+9C>T
|
rs1313828842
|
0.00001
|
|
NM_000135.4(FANCA):c.894-10G>A
|
rs751912856
|
0.00001
|
|
NM_000135.4(FANCA):c.894-20T>C
|
rs1475016373
|
0.00001
|
|
NM_000135.4(FANCA):c.894-9C>T
|
rs376093765
|
0.00001
|
|
NM_000135.4(FANCA):c.90C>G (p.Val30=)
|
rs532713581
|
0.00001
|
|
NM_000135.4(FANCA):c.913C>T (p.His305Tyr)
|
rs774054025
|
0.00001
|
|
NM_000135.4(FANCA):c.927T>C (p.Ser309=)
|
rs780226614
|
0.00001
|
|
NM_000135.4(FANCA):c.969C>G (p.Thr323=)
|
rs747408661
|
0.00001
|
|
NM_000135.4(FANCA):c.96G>A (p.Arg32=)
|
rs1381349863
|
0.00001
|
|
NM_000135.4(FANCA):c.990C>T (p.His330=)
|
rs1413024545
|
0.00001
|
|
NM_000136.3(FANCC):c.-12G>A
|
rs779454514
|
0.00001
|
|
NM_000136.3(FANCC):c.-13C>T
|
rs1057521107
|
0.00001
|
|
NM_000136.3(FANCC):c.-48G>A
|
rs1283535718
|
0.00001
|
|
NM_000136.3(FANCC):c.-61C>G
|
rs1048489323
|
0.00001
|
|
NM_000136.3(FANCC):c.-64G>C
|
rs1343004289
|
0.00001
|
|
NM_000136.3(FANCC):c.-71G>A
|
rs1296685064
|
0.00001
|
|
NM_000136.3(FANCC):c.-76T>G
|
rs1304078154
|
0.00001
|
|
NM_000136.3(FANCC):c.1035T>G (p.Ser345=)
|
rs1057522277
|
0.00001
|
|
NM_000136.3(FANCC):c.1048A>G (p.Met350Val)
|
rs863224607
|
0.00001
|
|
NM_000136.3(FANCC):c.1072+14G>C
|
rs763466918
|
0.00001
|
|
NM_000136.3(FANCC):c.1073-8A>G
|
rs1256220248
|
0.00001
|
|
NM_000136.3(FANCC):c.1152T>C (p.His384=)
|
rs748127093
|
0.00001
|
|
NM_000136.3(FANCC):c.1155-16T>G
|
rs1202931082
|
0.00001
|
|
NM_000136.3(FANCC):c.1179C>T (p.Ser393=)
|
rs1328914149
|
0.00001
|
|
NM_000136.3(FANCC):c.1275C>G (p.Leu425=)
|
rs767126985
|
0.00001
|
|
NM_000136.3(FANCC):c.1281C>T (p.Ala427=)
|
rs754604606
|
0.00001
|
|
NM_000136.3(FANCC):c.1305G>C (p.Gly435=)
|
rs765092951
|
0.00001
|
|
NM_000136.3(FANCC):c.1330-4C>G
|
rs762141353
|
0.00001
|
|
NM_000136.3(FANCC):c.1330-9A>G
|
rs1264460608
|
0.00001
|
|
NM_000136.3(FANCC):c.1344C>T (p.Ala448=)
|
rs760983825
|
0.00001
|
|
NM_000136.3(FANCC):c.1350G>A (p.Leu450=)
|
rs892063660
|
0.00001
|
|
NM_000136.3(FANCC):c.1365A>C (p.Ala455=)
|
rs1463739066
|
0.00001
|
|
NM_000136.3(FANCC):c.1437C>T (p.Leu479=)
|
rs765396609
|
0.00001
|
|
NM_000136.3(FANCC):c.1488C>G (p.Leu496=)
|
rs1057520505
|
0.00001
|
|
NM_000136.3(FANCC):c.1508C>T (p.Thr503Met)
|
rs779982610
|
0.00001
|
|
NM_000136.3(FANCC):c.1512C>T (p.Ile504=)
|
rs746940880
|
0.00001
|
|
NM_000136.3(FANCC):c.1530C>T (p.Thr510=)
|
rs372199352
|
0.00001
|
|
NM_000136.3(FANCC):c.1534-10C>T
|
rs1356632872
|
0.00001
|
|
NM_000136.3(FANCC):c.1534-18C>T
|
rs1289718209
|
0.00001
|
|
NM_000136.3(FANCC):c.1534-20C>T
|
rs1564635514
|
0.00001
|
|
NM_000136.3(FANCC):c.1587C>T (p.Thr529=)
|
rs1015147630
|
0.00001
|
|
NM_000136.3(FANCC):c.1588T>C (p.Leu530=)
|
rs988780618
|
0.00001
|
|
NM_000136.3(FANCC):c.1593C>T (p.Tyr531=)
|
rs758842354
|
0.00001
|
|
NM_000136.3(FANCC):c.1594A>C (p.Arg532=)
|
rs764649916
|
0.00001
|
|
NM_000136.3(FANCC):c.15A>G (p.Ser5=)
|
rs778408360
|
0.00001
|
|
NM_000136.3(FANCC):c.165+10G>A
|
rs767721720
|
0.00001
|
|
NM_000136.3(FANCC):c.165+12A>G
|
rs200547296
|
0.00001
|
|
NM_000136.3(FANCC):c.166-5C>T
|
rs753820400
|
0.00001
|
|
NM_000136.3(FANCC):c.166-9C>G
|
rs372507085
|
0.00001
|
|
NM_000136.3(FANCC):c.1660C>T (p.Leu554=)
|
rs769743634
|
0.00001
|
|
NM_000136.3(FANCC):c.216A>G (p.Ala72=)
|
rs1057523069
|
0.00001
|
|
NM_000136.3(FANCC):c.250+18G>A
|
rs751544011
|
0.00001
|
|
NM_000136.3(FANCC):c.291A>G (p.Leu97=)
|
rs1216348860
|
0.00001
|
|
NM_000136.3(FANCC):c.321A>G (p.Gln107=)
|
rs1441770870
|
0.00001
|
|
NM_000136.3(FANCC):c.327A>G (p.Lys109=)
|
rs1399574459
|
0.00001
|
|
NM_000136.3(FANCC):c.346-12T>C
|
rs769706832
|
0.00001
|
|
NM_000136.3(FANCC):c.346-8T>C
|
rs747950159
|
0.00001
|
|
NM_000136.3(FANCC):c.456+8T>C
|
rs761639538
|
0.00001
|
|
NM_000136.3(FANCC):c.457-9G>A
|
rs762529432
|
0.00001
|
|
NM_000136.3(FANCC):c.468A>G (p.Ser156=)
|
rs148616725
|
0.00001
|
|
NM_000136.3(FANCC):c.474G>A (p.Ala158=)
|
rs768342908
|
0.00001
|
|
NM_000136.3(FANCC):c.501T>C (p.Asn167=)
|
rs1057520284
|
0.00001
|
|
NM_000136.3(FANCC):c.510C>T (p.Asn170=)
|
rs777734585
|
0.00001
|
|
NM_000136.3(FANCC):c.521+10_521+13del
|
rs1372625836
|
0.00001
|
|
NM_000136.3(FANCC):c.543G>A (p.Ala181=)
|
rs758919360
|
0.00001
|
|
NM_000136.3(FANCC):c.576C>T (p.Thr192=)
|
rs759392396
|
0.00001
|
|
NM_000136.3(FANCC):c.678C>T (p.Ala226=)
|
rs775845203
|
0.00001
|
|
NM_000136.3(FANCC):c.686+8G>A
|
rs1312864289
|
0.00001
|
|
NM_000136.3(FANCC):c.687-15A>C
|
rs765327075
|
0.00001
|
|
NM_000136.3(FANCC):c.690G>A (p.Lys230=)
|
rs199744457
|
0.00001
|
|
NM_000136.3(FANCC):c.693G>A (p.Lys231=)
|
rs955961811
|
0.00001
|
|
NM_000136.3(FANCC):c.843+9del
|
rs1827516873
|
0.00001
|
|
NM_000136.3(FANCC):c.844-14T>C
|
rs759280421
|
0.00001
|
|
NM_000136.3(FANCC):c.882T>C (p.Val294=)
|
rs750639831
|
0.00001
|
|
NM_000136.3(FANCC):c.896+11C>G
|
rs1012591196
|
0.00001
|
|
NM_000136.3(FANCC):c.897-10C>T
|
rs955495354
|
0.00001
|
|
NM_000136.3(FANCC):c.924C>G (p.Ala308=)
|
rs864622225
|
0.00001
|
|
NM_000136.3(FANCC):c.957G>A (p.Thr319=)
|
rs1060504647
|
0.00001
|
|
NM_000136.3(FANCC):c.996+17A>G
|
rs767279490
|
0.00001
|
|
NM_000136.3(FANCC):c.996+9dup
|
rs781108327
|
0.00001
|
|
NM_000136.3(FANCC):c.997-12A>G
|
rs1368651985
|
0.00001
|
|
NM_000136.3(FANCC):c.997-6T>C
|
rs1057524604
|
0.00001
|
|
NM_000474.4(TWIST1):c.546G>T (p.Arg182=)
|
rs115322362
|
0.00001
|
|
NM_000751.3(CHRND):c.1122G>A (p.Leu374=)
|
rs1438844656
|
0.00001
|
|
NM_000751.3(CHRND):c.1143G>C (p.Leu381=)
|
rs1464265235
|
0.00001
|
|
NM_000751.3(CHRND):c.129G>A (p.Arg43=)
|
rs765106484
|
0.00001
|
|
NM_000751.3(CHRND):c.132C>G (p.Pro44=)
|
rs774771779
|
0.00001
|
|
NM_000751.3(CHRND):c.132C>T (p.Pro44=)
|
rs774771779
|
0.00001
|
|
NM_000751.3(CHRND):c.1434G>A (p.Thr478=)
|
rs554876874
|
0.00001
|
|
NM_000751.3(CHRND):c.1452C>A (p.Gly484=)
|
rs1221932092
|
0.00001
|
|
NM_000751.3(CHRND):c.1497C>G (p.Pro499=)
|
rs772552126
|
0.00001
|
|
NM_000751.3(CHRND):c.1527C>T (p.Tyr509=)
|
rs572853269
|
0.00001
|
|
NM_000751.3(CHRND):c.159C>T (p.Asp53=)
|
rs370725931
|
0.00001
|
|
NM_000751.3(CHRND):c.199-12G>A
|
rs937840228
|
0.00001
|
|
NM_000751.3(CHRND):c.264G>C (p.Leu88=)
|
rs1029592483
|
0.00001
|
|
NM_000751.3(CHRND):c.375C>T (p.Ile125=)
|
rs756324982
|
0.00001
|
|
NM_000751.3(CHRND):c.435C>T (p.Ala145=)
|
rs1691569899
|
0.00001
|
|
NM_000751.3(CHRND):c.447C>T (p.Ser149=)
|
rs371097455
|
0.00001
|
|
NM_000751.3(CHRND):c.510-16C>A
|
rs1038117512
|
0.00001
|
|
NM_000751.3(CHRND):c.606T>C (p.Pro202=)
|
rs762417696
|
0.00001
|
|
NM_000751.3(CHRND):c.624C>T (p.Asn208=)
|
rs1473541483
|
0.00001
|
|
NM_000751.3(CHRND):c.70G>A (p.Glu24Lys)
|
rs144310284
|
0.00001
|
|
NM_000751.3(CHRND):c.84G>A (p.Leu28=)
|
rs1323332117
|
0.00001
|
|
NM_000751.3(CHRND):c.932+9C>T
|
rs367837942
|
0.00001
|
|
NM_000751.3(CHRND):c.945C>T (p.Phe315=)
|
rs777931139
|
0.00001
|
|
NM_000751.3(CHRND):c.984C>G (p.Val328=)
|
rs763965619
|
0.00001
|
|
NM_001018113.3(FANCB):c.1179T>C (p.Pro393=)
|
rs764156696
|
0.00001
|
|
NM_001018113.3(FANCB):c.1225C>T (p.Arg409Trp)
|
rs750569208
|
0.00001
|
|
NM_001018113.3(FANCB):c.1314A>C (p.Ser438=)
|
rs2092408394
|
0.00001
|
|
NM_001018113.3(FANCB):c.1552T>A (p.Phe518Ile)
|
rs373632536
|
0.00001
|
|
NM_001018113.3(FANCB):c.1556G>A (p.Arg519Gln)
|
rs1379342414
|
0.00001
|
|
NM_001018113.3(FANCB):c.1659G>A (p.Thr553=)
|
rs767952529
|
0.00001
|
|
NM_001018113.3(FANCB):c.1746A>G (p.Thr582=)
|
rs1228686996
|
0.00001
|
|
NM_001018113.3(FANCB):c.1755A>G (p.Ser585=)
|
rs745472535
|
0.00001
|
|
NM_001018113.3(FANCB):c.183C>T (p.Ser61=)
|
rs1317100453
|
0.00001
|
|
NM_001018113.3(FANCB):c.1894T>G (p.Tyr632Asp)
|
rs149387792
|
0.00001
|
|
NM_001018113.3(FANCB):c.18A>G (p.Ala6=)
|
rs2092465606
|
0.00001
|
|
NM_001018113.3(FANCB):c.1912A>G (p.Lys638Glu)
|
rs776713934
|
0.00001
|
|
NM_001018113.3(FANCB):c.1924A>G (p.Ile642Val)
|
rs370765798
|
0.00001
|
|
NM_001018113.3(FANCB):c.1928-20G>T
|
rs780575945
|
0.00001
|
|
NM_001018113.3(FANCB):c.2379A>G (p.Gly793=)
|
rs1374912480
|
0.00001
|
|
NM_001018113.3(FANCB):c.2563A>G (p.Lys855Glu)
|
rs773885877
|
0.00001
|
|
NM_001018113.3(FANCB):c.318A>G (p.Glu106=)
|
rs1215227353
|
0.00001
|
|
NM_001018113.3(FANCB):c.52T>C (p.Tyr18His)
|
rs996732250
|
0.00001
|
|
NM_001018113.3(FANCB):c.609A>C (p.Ser203=)
|
rs1206454126
|
0.00001
|
|
NM_001018113.3(FANCB):c.667T>C (p.Leu223=)
|
rs1308832555
|
0.00001
|
|
NM_001018113.3(FANCB):c.884G>A (p.Gly295Glu)
|
rs1270593506
|
0.00001
|
|
NM_001018113.3(FANCB):c.939A>G (p.Lys313=)
|
rs767512088
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1047A>G (p.Val349=)
|
rs761258624
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1311G>A (p.Ser437=)
|
rs564577177
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1414-4A>G
|
rs781613701
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1546-7T>A
|
rs548887691
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1671G>A (p.Leu557=)
|
rs746726118
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=)
|
rs769844392
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1758G>A (p.Ala586=)
|
rs370284275
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1767-7T>C
|
rs756066137
|
0.00001
|
|
NM_001018115.3(FANCD2):c.1830G>A (p.Val610=)
|
rs1447943740
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2004C>G (p.Ser668=)
|
rs138189144
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2016G>A (p.Pro672=)
|
rs552206789
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2085T>C (p.Ile695=)
|
rs760296624
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2175G>A (p.Val725=)
|
rs776116877
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2265A>G (p.Leu755=)
|
rs376828609
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2386-15A>G
|
rs542904509
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2494+9A>G
|
rs754665005
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2577A>G (p.Ser859=)
|
rs772038476
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2605+20C>G
|
rs1429678820
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2606-7A>G
|
rs757102395
|
0.00001
|
|
NM_001018115.3(FANCD2):c.2715+20C>G
|
rs199714316
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3012C>G (p.Leu1004=)
|
rs773625038
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3126C>T (p.His1042=)
|
rs552885346
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3222T>C (p.Ala1074=)
|
rs1238683323
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3224+13G>C
|
rs764386433
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3224+8T>A
|
rs1412513898
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3225-13T>C
|
rs996065278
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3285T>C (p.Ser1095=)
|
rs759252565
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3441T>C (p.Ala1147=)
|
rs533541893
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3459A>G (p.Glu1153=)
|
rs570459552
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3543G>A (p.Gln1181=)
|
rs138409505
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3549T>C (p.His1183=)
|
rs758749466
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3558C>G (p.Leu1186=)
|
rs745765337
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3645T>A (p.Pro1215=)
|
rs1168183069
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3708T>C (p.Arg1236=)
|
rs760054945
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3963+11A>G
|
rs945877549
|
0.00001
|
|
NM_001018115.3(FANCD2):c.3963+8C>T
|
rs201623111
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4047G>A (p.Gln1349=)
|
rs370343891
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4056A>G (p.Arg1352=)
|
rs1336906399
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4140T>C (p.Cys1380=)
|
rs954149471
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4185+20A>G
|
rs770768796
|
0.00001
|
|
NM_001018115.3(FANCD2):c.4281+42C>T
|
rs1415649585
|
0.00001
|
|
NM_001018115.3(FANCD2):c.438+8T>G
|
rs762114353
|
0.00001
|
|
NM_001018115.3(FANCD2):c.552C>T (p.Asp184=)
|
rs2086806957
|
0.00001
|
|
NM_001018115.3(FANCD2):c.695+10C>T
|
rs757359450
|
0.00001
|
|
NM_001018115.3(FANCD2):c.695+18C>T
|
rs767119830
|
0.00001
|
|
NM_001018115.3(FANCD2):c.778T>C (p.Leu260=)
|
rs756621826
|
0.00001
|
|
NM_001018115.3(FANCD2):c.784-9A>G
|
rs1388537203
|
0.00001
|
|
NM_001018115.3(FANCD2):c.813G>A (p.Ser271=)
|
rs773072936
|
0.00001
|
|
NM_001018115.3(FANCD2):c.828G>A (p.Glu276=)
|
rs1246470195
|
0.00001
|
|
NM_001018115.3(FANCD2):c.888+8C>G
|
rs201124351
|
0.00001
|
|
NM_001018115.3(FANCD2):c.989+9C>T
|
rs2086907710
|
0.00001
|
|
NM_001113378.2(FANCI):c.1017G>A (p.Lys339=)
|
rs72762644
|
0.00001
|
|
NM_001113378.2(FANCI):c.1026A>G (p.Gln342=)
|
rs752386484
|
0.00001
|
|
NM_001113378.2(FANCI):c.1038C>T (p.Gly346=)
|
rs1465922906
|
0.00001
|
|
NM_001113378.2(FANCI):c.1185A>C (p.Pro395=)
|
rs371838837
|
0.00001
|
|
NM_001113378.2(FANCI):c.1212T>C (p.Ile404=)
|
rs749893514
|
0.00001
|
|
NM_001113378.2(FANCI):c.1311A>G (p.Arg437=)
|
rs772846275
|
0.00001
|
|
NM_001113378.2(FANCI):c.1386G>A (p.Leu462=)
|
rs1427057962
|
0.00001
|
|
NM_001113378.2(FANCI):c.1479T>G (p.Leu493=)
|
rs775006497
|
0.00001
|
|
NM_001113378.2(FANCI):c.1513-13G>C
|
rs1451472127
|
0.00001
|
|
NM_001113378.2(FANCI):c.1557T>C (p.Leu519=)
|
rs138767485
|
0.00001
|
|
NM_001113378.2(FANCI):c.1680G>A (p.Gln560=)
|
rs1181466139
|
0.00001
|
|
NM_001113378.2(FANCI):c.1698+11T>C
|
rs1349464743
|
0.00001
|
|
NM_001113378.2(FANCI):c.1821+9G>A
|
rs1596292257
|
0.00001
|
|
NM_001113378.2(FANCI):c.1824G>A (p.Gly608=)
|
rs777877618
|
0.00001
|
|
NM_001113378.2(FANCI):c.18A>G (p.Leu6=)
|
rs1344119716
|
0.00001
|
|
NM_001113378.2(FANCI):c.1956G>C (p.Leu652=)
|
rs770437879
|
0.00001
|
|
NM_001113378.2(FANCI):c.1993-7C>G
|
rs773420007
|
0.00001
|
|
NM_001113378.2(FANCI):c.2169+12G>A
|
rs886051512
|
0.00001
|
|
NM_001113378.2(FANCI):c.228G>A (p.Val76=)
|
rs1296744474
|
0.00001
|
|
NM_001113378.2(FANCI):c.2292-6T>C
|
rs772352819
|
0.00001
|
|
NM_001113378.2(FANCI):c.2520C>G (p.Arg840=)
|
rs1210098933
|
0.00001
|
|
NM_001113378.2(FANCI):c.2577G>C (p.Val859=)
|
rs562877308
|
0.00001
|
|
NM_001113378.2(FANCI):c.2673A>T (p.Ser891=)
|
rs1567170286
|
0.00001
|
|
NM_001113378.2(FANCI):c.2721G>A (p.Leu907=)
|
rs369902896
|
0.00001
|
|
NM_001113378.2(FANCI):c.288+13A>T
|
rs748684931
|
0.00001
|
|
NM_001113378.2(FANCI):c.288+15_288+16insGT
|
rs770691019
|
0.00001
|
|
NM_001113378.2(FANCI):c.3058+10C>G
|
rs1375877085
|
0.00001
|
|
NM_001113378.2(FANCI):c.3059-17T>A
|
rs778641563
|
0.00001
|
|
NM_001113378.2(FANCI):c.3069G>A (p.Leu1023=)
|
rs777093571
|
0.00001
|
|
NM_001113378.2(FANCI):c.3186+7_3186+8insG
|
rs762412096
|
0.00001
|
|
NM_001113378.2(FANCI):c.3210C>T (p.Asn1070=)
|
rs1331419585
|
0.00001
|
|
NM_001113378.2(FANCI):c.3237G>A (p.Thr1079=)
|
rs767103109
|
0.00001
|
|
NM_001113378.2(FANCI):c.3252C>T (p.Val1084=)
|
rs1270769440
|
0.00001
|
|
NM_001113378.2(FANCI):c.3255+8T>C
|
rs200754997
|
0.00001
|
|
NM_001113378.2(FANCI):c.3255+9T>A
|
rs1596324771
|
0.00001
|
|
NM_001113378.2(FANCI):c.3256-9T>C
|
rs1464839356
|
0.00001
|
|
NM_001113378.2(FANCI):c.3273G>A (p.Gln1091=)
|
rs147496890
|
0.00001
|
|
NM_001113378.2(FANCI):c.3350-11T>C
|
rs779052518
|
0.00001
|
|
NM_001113378.2(FANCI):c.33A>G (p.Glu11=)
|
rs878854180
|
0.00001
|
|
NM_001113378.2(FANCI):c.3538-10T>C
|
rs1415270918
|
0.00001
|
|
NM_001113378.2(FANCI):c.3561C>T (p.Ser1187=)
|
rs748619003
|
0.00001
|
|
NM_001113378.2(FANCI):c.3592-16C>T
|
rs754610218
|
0.00001
|
|
NM_001113378.2(FANCI):c.3592-9G>A
|
rs200021557
|
0.00001
|
|
NM_001113378.2(FANCI):c.3594G>A (p.Val1198=)
|
rs986193169
|
0.00001
|
|
NM_001113378.2(FANCI):c.3652-14T>G
|
rs372032678
|
0.00001
|
|
NM_001113378.2(FANCI):c.3652-6C>G
|
rs752433847
|
0.00001
|
|
NM_001113378.2(FANCI):c.3652-9T>C
|
rs971308997
|
0.00001
|
|
NM_001113378.2(FANCI):c.3675T>C (p.Tyr1225=)
|
rs768895822
|
0.00001
|
|
NM_001113378.2(FANCI):c.3678G>A (p.Thr1226=)
|
rs748187517
|
0.00001
|
|
NM_001113378.2(FANCI):c.3801T>G (p.Leu1267=)
|
rs993279086
|
0.00001
|
|
NM_001113378.2(FANCI):c.3834C>T (p.His1278=)
|
rs1450412741
|
0.00001
|
|
NM_001113378.2(FANCI):c.3924+16T>G
|
rs1260139637
|
0.00001
|
|
NM_001113378.2(FANCI):c.3925-10C>G
|
rs1308242761
|
0.00001
|
|
NM_001113378.2(FANCI):c.3954C>T (p.Asn1318=)
|
rs778130460
|
0.00001
|
|
NM_001113378.2(FANCI):c.39A>T (p.Thr13=)
|
rs201981373
|
0.00001
|
|
NM_001113378.2(FANCI):c.411G>A (p.Leu137=)
|
rs770909223
|
0.00001
|
|
NM_001113378.2(FANCI):c.417G>A (p.Thr139=)
|
rs776382823
|
0.00001
|
|
NM_001113378.2(FANCI):c.445+13C>T
|
rs369924984
|
0.00001
|
|
NM_001113378.2(FANCI):c.446-19G>A
|
rs775410661
|
0.00001
|
|
NM_001113378.2(FANCI):c.558G>T (p.Leu186=)
|
rs746658213
|
0.00001
|
|
NM_001113378.2(FANCI):c.609C>T (p.Ser203=)
|
rs762005980
|
0.00001
|
|
NM_001113378.2(FANCI):c.669+8T>C
|
rs942269232
|
0.00001
|
|
NM_001113378.2(FANCI):c.735T>C (p.Asn245=)
|
rs1230412125
|
0.00001
|
|
NM_001113378.2(FANCI):c.755+11T>C
|
rs763895201
|
0.00001
|
|
NM_001113378.2(FANCI):c.837C>T (p.Ile279=)
|
rs2053064958
|
0.00001
|
|
NM_001113378.2(FANCI):c.924C>T (p.Phe308=)
|
rs1201490769
|
0.00001
|
|
NM_001113378.2(FANCI):c.975+11A>T
|
rs759815521
|
0.00001
|
|
NM_001113378.2(FANCI):c.976-9A>G
|
rs1350162211
|
0.00001
|
|
NM_001113378.2(FANCI):c.999G>A (p.Ser333=)
|
rs367991076
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1047G>C
|
rs372364590
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1063G>A
|
rs766594215
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1218G>A
|
rs1339996571
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1220G>A
|
rs1445940471
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1311C>T
|
rs1392135704
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1738dup
|
rs755153673
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1739G>A
|
rs201323033
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*1863G>A
|
rs374510260
|
0.00001
|
|
NM_001113525.2(ZNF276):c.*473G>A
|
rs2062032586
|
0.00001
|
|
NM_001271938.2(MEGF8):c.123A>G (p.Pro41=)
|
rs964840099
|
0.00001
|
|
NM_001271938.2(MEGF8):c.1791T>C (p.Cys597=)
|
rs777831498
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3378G>A (p.Val1126=)
|
rs780556649
|
0.00001
|
|
NM_001271938.2(MEGF8):c.3804C>T (p.Leu1268=)
|
rs780442723
|
0.00001
|
|
NM_001271938.2(MEGF8):c.5583A>C (p.Gly1861=)
|
rs746270596
|
0.00001
|
|
NM_001271938.2(MEGF8):c.5853C>A (p.Thr1951=)
|
rs754567747
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6059-16C>T
|
rs760323076
|
0.00001
|
|
NM_001271938.2(MEGF8):c.610C>T (p.Leu204=)
|
rs1351465017
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6261C>T (p.Ser2087=)
|
rs2039558834
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6482-9C>T
|
rs776227273
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6693A>C (p.Ser2231=)
|
rs746097325
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6936C>A (p.Ile2312=)
|
rs764031754
|
0.00001
|
|
NM_001271938.2(MEGF8):c.6966C>T (p.Ser2322=)
|
rs754666704
|
0.00001
|
|
NM_001271938.2(MEGF8):c.7155C>T (p.His2385=)
|
rs775919574
|
0.00001
|
|
NM_001271938.2(MEGF8):c.7368G>A (p.Thr2456=)
|
rs779163527
|
0.00001
|
|
NM_001271938.2(MEGF8):c.948C>A (p.Gly316=)
|
rs971549656
|
0.00001
|
|
NM_001278689.2(EOGT):c.1368C>T (p.Asp456=)
|
rs750519290
|
0.00001
|
|
NM_001278689.2(EOGT):c.1440C>T (p.Gly480=)
|
rs778355816
|
0.00001
|
|
NM_001278689.2(EOGT):c.1488C>T (p.Phe496=)
|
rs771945573
|
0.00001
|
|
NM_001278689.2(EOGT):c.1524T>C (p.Ala508=)
|
rs1575699109
|
0.00001
|
|
NM_001346754.2(PIGW):c.153T>C (p.Pro51=)
|
rs748068199
|
0.00001
|
|
NM_001346754.2(PIGW):c.462A>G (p.Arg154=)
|
rs1170311490
|
0.00001
|
|
NM_001346754.2(PIGW):c.624A>G (p.Pro208=)
|
rs776949283
|
0.00001
|
|
NM_001346754.2(PIGW):c.642C>T (p.Ile214=)
|
rs775786836
|
0.00001
|
|
NM_001346754.2(PIGW):c.777T>C (p.Asn259=)
|
rs774528615
|
0.00001
|
|
NM_001346754.2(PIGW):c.894A>G (p.Leu298=)
|
rs1483319678
|
0.00001
|
|
NM_001374353.1(GLI2):c.120G>A (p.Ala40=)
|
rs202130125
|
0.00001
|
|
NM_001374353.1(GLI2):c.123A>G (p.Ala41=)
|
rs200321870
|
0.00001
|
|
NM_001374353.1(GLI2):c.1519C>T (p.Leu507=)
|
rs1205997619
|
0.00001
|
|
NM_001374353.1(GLI2):c.2208G>A (p.Thr736=)
|
rs372206751
|
0.00001
|
|
NM_001374353.1(GLI2):c.2484C>T (p.Arg828=)
|
rs1190519823
|
0.00001
|
|
NM_001374353.1(GLI2):c.2884C>T (p.Leu962=)
|
rs1345329176
|
0.00001
|
|
NM_001374353.1(GLI2):c.3051C>T (p.Asn1017=)
|
rs751735227
|
0.00001
|
|
NM_001374353.1(GLI2):c.3066C>T (p.Ala1022=)
|
rs1472557461
|
0.00001
|
|
NM_001374353.1(GLI2):c.4350G>A (p.Gln1450=)
|
rs1683233094
|
0.00001
|
|
NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser)
|
rs542892514
|
0.00001
|
|
NM_001374353.1(GLI2):c.819C>T (p.Tyr273=)
|
rs527693910
|
0.00001
|
|
NM_001374353.1(GLI2):c.879C>T (p.Pro293=)
|
rs1318325355
|
0.00001
|
|
NM_001429.4(EP300):c.12T>C (p.Asn4=)
|
rs758604225
|
0.00001
|
|
NM_001429.4(EP300):c.1316A>G (p.Asn439Ser)
|
rs746628829
|
0.00001
|
|
NM_001429.4(EP300):c.1508T>C (p.Met503Thr)
|
rs1185038602
|
0.00001
|
|
NM_001429.4(EP300):c.1874A>G (p.Asn625Ser)
|
rs775426461
|
0.00001
|
|
NM_001429.4(EP300):c.2145T>C (p.Phe715=)
|
rs750344330
|
0.00001
|
|
NM_001429.4(EP300):c.214C>A (p.Gln72Lys)
|
rs539635560
|
0.00001
|
|
NM_001429.4(EP300):c.2279A>G (p.Asn760Ser)
|
rs374502005
|
0.00001
|
|
NM_001429.4(EP300):c.2348C>T (p.Ala783Val)
|
rs755619355
|
0.00001
|
|
NM_001429.4(EP300):c.2513G>A (p.Arg838His)
|
rs774840930
|
0.00001
|
|
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu)
|
rs540935486
|
0.00001
|
|
NM_001429.4(EP300):c.2975C>A (p.Thr992Asn)
|
rs760974878
|
0.00001
|
|
NM_001429.4(EP300):c.3501+17A>G
|
rs774004879
|
0.00001
|
|
NM_001429.4(EP300):c.3502-9C>A
|
rs752128445
|
0.00001
|
|
NM_001429.4(EP300):c.3573T>C (p.Tyr1191=)
|
rs565779970
|
0.00001
|
|
NM_001429.4(EP300):c.3875-8A>C
|
rs747796024
|
0.00001
|
|
NM_001429.4(EP300):c.4509T>C (p.Tyr1503=)
|
rs373428278
|
0.00001
|
|
NM_001429.4(EP300):c.4842T>C (p.Asp1614=)
|
rs755816596
|
0.00001
|
|
NM_001429.4(EP300):c.5280G>A (p.Lys1760=)
|
rs148892028
|
0.00001
|
|
NM_001429.4(EP300):c.5440C>A (p.Arg1814=)
|
rs757325753
|
0.00001
|
|
NM_001429.4(EP300):c.6225C>T (p.His2075=)
|
rs543501228
|
0.00001
|
|
NM_001429.4(EP300):c.6473T>C (p.Met2158Thr)
|
rs778354178
|
0.00001
|
|
NM_001429.4(EP300):c.650A>G (p.Asn217Ser)
|
rs139130083
|
0.00001
|
|
NM_001429.4(EP300):c.6582A>G (p.Gln2194=)
|
rs761195313
|
0.00001
|
|
NM_001999.4(FBN2):c.1011C>T (p.Thr337=)
|
rs781086796
|
0.00001
|
|
NM_001999.4(FBN2):c.1061A>G (p.Asp354Gly)
|
rs761066631
|
0.00001
|
|
NM_001999.4(FBN2):c.1070G>A (p.Arg357Gln)
|
rs773969876
|
0.00001
|
|
NM_001999.4(FBN2):c.1079-14T>G
|
rs754310681
|
0.00001
|
|
NM_001999.4(FBN2):c.1143G>T (p.Gly381=)
|
rs749428195
|
0.00001
|
|
NM_001999.4(FBN2):c.1151C>T (p.Thr384Met)
|
rs371826887
|
0.00001
|
|
NM_001999.4(FBN2):c.115C>G (p.Arg39Gly)
|
rs763202121
|
0.00001
|
|
NM_001999.4(FBN2):c.1260A>C (p.Gly420=)
|
rs766241911
|
0.00001
|
|
NM_001999.4(FBN2):c.126G>A (p.Pro42=)
|
rs771657289
|
0.00001
|
|
NM_001999.4(FBN2):c.1338C>G (p.Gly446=)
|
rs1060504933
|
0.00001
|
|
NM_001999.4(FBN2):c.1391G>A (p.Gly464Asp)
|
rs748584140
|
0.00001
|
|
NM_001999.4(FBN2):c.1431G>A (p.Gly477=)
|
rs759633050
|
0.00001
|
|
NM_001999.4(FBN2):c.1603+7T>C
|
rs1477450908
|
0.00001
|
|
NM_001999.4(FBN2):c.1671T>C (p.Tyr557=)
|
rs1487989552
|
0.00001
|
|
NM_001999.4(FBN2):c.1716A>G (p.Ala572=)
|
rs771782180
|
0.00001
|
|
NM_001999.4(FBN2):c.1724-6T>C
|
rs1259657269
|
0.00001
|
|
NM_001999.4(FBN2):c.1774G>T (p.Val592Leu)
|
rs762427107
|
0.00001
|
|
NM_001999.4(FBN2):c.1776G>A (p.Val592=)
|
rs775492838
|
0.00001
|
|
NM_001999.4(FBN2):c.1842C>T (p.Asn614=)
|
rs968593645
|
0.00001
|
|
NM_001999.4(FBN2):c.1866A>G (p.Thr622=)
|
rs1060504934
|
0.00001
|
|
NM_001999.4(FBN2):c.1884G>A (p.Leu628=)
|
rs1237327921
|
0.00001
|
|
NM_001999.4(FBN2):c.1902T>C (p.Asn634=)
|
rs553052214
|
0.00001
|
|
NM_001999.4(FBN2):c.2013G>A (p.Gly671=)
|
rs778762668
|
0.00001
|
|
NM_001999.4(FBN2):c.2041C>T (p.Arg681Cys)
|
rs750406193
|
0.00001
|
|
NM_001999.4(FBN2):c.2043C>T (p.Arg681=)
|
rs1476851135
|
0.00001
|
|
NM_001999.4(FBN2):c.2084G>A (p.Arg695His)
|
rs143722436
|
0.00001
|
|
NM_001999.4(FBN2):c.2096-13del
|
rs746826953
|
0.00001
|
|
NM_001999.4(FBN2):c.2099C>T (p.Thr700Ile)
|
rs773667668
|
0.00001
|
|
NM_001999.4(FBN2):c.2160C>T (p.Pro720=)
|
rs889188442
|
0.00001
|
|
NM_001999.4(FBN2):c.2202C>T (p.Asp734=)
|
rs1057470455
|
0.00001
|
|
NM_001999.4(FBN2):c.220G>A (p.Val74Ile)
|
rs779812100
|
0.00001
|
|
NM_001999.4(FBN2):c.2259C>T (p.His753=)
|
rs1751768248
|
0.00001
|
|
NM_001999.4(FBN2):c.2283T>C (p.Gly761=)
|
rs1235214641
|
0.00001
|
|
NM_001999.4(FBN2):c.2428+9T>C
|
rs368374358
|
0.00001
|
|
NM_001999.4(FBN2):c.2487G>T (p.Thr829=)
|
rs779455710
|
0.00001
|
|
NM_001999.4(FBN2):c.2511C>T (p.Cys837=)
|
rs756813212
|
0.00001
|
|
NM_001999.4(FBN2):c.2554+18C>T
|
rs778973357
|
0.00001
|
|
NM_001999.4(FBN2):c.2554+19G>A
|
rs199897237
|
0.00001
|
|
NM_001999.4(FBN2):c.258C>T (p.Pro86=)
|
rs780509984
|
0.00001
|
|
NM_001999.4(FBN2):c.2661A>G (p.Gly887=)
|
rs774598529
|
0.00001
|
|
NM_001999.4(FBN2):c.2675-8C>G
|
rs1451128883
|
0.00001
|
|
NM_001999.4(FBN2):c.2715C>T (p.Ser905=)
|
rs998086640
|
0.00001
|
|
NM_001999.4(FBN2):c.2740G>A (p.Ala914Thr)
|
rs370312107
|
0.00001
|
|
NM_001999.4(FBN2):c.2777C>A (p.Ala926Asp)
|
rs138429045
|
0.00001
|
|
NM_001999.4(FBN2):c.2813-12T>C
|
rs1395669341
|
0.00001
|
|
NM_001999.4(FBN2):c.2864-12A>G
|
rs1234935460
|
0.00001
|
|
NM_001999.4(FBN2):c.2874G>A (p.Glu958=)
|
rs765859878
|
0.00001
|
|
NM_001999.4(FBN2):c.294C>T (p.Cys98=)
|
rs765214316
|
0.00001
|
|
NM_001999.4(FBN2):c.2989+18A>T
|
rs769856454
|
0.00001
|
|
NM_001999.4(FBN2):c.2990-13G>A
|
rs375326505
|
0.00001
|
|
NM_001999.4(FBN2):c.3054A>G (p.Gly1018=)
|
rs1255532545
|
0.00001
|
|
NM_001999.4(FBN2):c.3106G>A (p.Glu1036Lys)
|
rs773473369
|
0.00001
|
|
NM_001999.4(FBN2):c.3114G>C (p.Glu1038Asp)
|
rs199938409
|
0.00001
|
|
NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys)
|
rs771853346
|
0.00001
|
|
NM_001999.4(FBN2):c.3253A>C (p.Thr1085Pro)
|
rs863223562
|
0.00001
|
|
NM_001999.4(FBN2):c.3277A>G (p.Ile1093Val)
|
rs747248488
|
0.00001
|
|
NM_001999.4(FBN2):c.3280G>A (p.Gly1094Arg)
|
rs758659538
|
0.00001
|
|
NM_001999.4(FBN2):c.3290A>C (p.Lys1097Thr)
|
rs765437414
|
0.00001
|
|
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly)
|
rs761012607
|
0.00001
|
|
NM_001999.4(FBN2):c.3420C>T (p.Cys1140=)
|
rs756541654
|
0.00001
|
|
NM_001999.4(FBN2):c.3534G>C (p.Glu1178Asp)
|
rs771385579
|
0.00001
|
|
NM_001999.4(FBN2):c.3567C>T (p.His1189=)
|
rs945523399
|
0.00001
|
|
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=)
|
rs941219425
|
0.00001
|
|
NM_001999.4(FBN2):c.3614C>T (p.Ser1205Phe)
|
rs1389689622
|
0.00001
|
|
NM_001999.4(FBN2):c.3630C>G (p.Leu1210=)
|
rs764902856
|
0.00001
|
|
NM_001999.4(FBN2):c.3675C>T (p.Cys1225=)
|
rs141485941
|
0.00001
|
|
NM_001999.4(FBN2):c.3750C>T (p.Asn1250=)
|
rs750559514
|
0.00001
|
|
NM_001999.4(FBN2):c.3877A>T (p.Ile1293Phe)
|
rs1263059454
|
0.00001
|
|
NM_001999.4(FBN2):c.3889G>A (p.Gly1297Ser)
|
rs755489065
|
0.00001
|
|
NM_001999.4(FBN2):c.3919C>T (p.Arg1307Cys)
|
rs922751471
|
0.00001
|
|
NM_001999.4(FBN2):c.3984A>G (p.Glu1328=)
|
rs1394998823
|
0.00001
|
|
NM_001999.4(FBN2):c.4052A>G (p.His1351Arg)
|
rs1039821634
|
0.00001
|
|
NM_001999.4(FBN2):c.4134C>T (p.Cys1378=)
|
rs775405425
|
0.00001
|
|
NM_001999.4(FBN2):c.413C>T (p.Ser138Leu)
|
rs149305476
|
0.00001
|
|
NM_001999.4(FBN2):c.4208G>A (p.Gly1403Asp)
|
rs750327890
|
0.00001
|
|
NM_001999.4(FBN2):c.4283C>A (p.Thr1428Asn)
|
rs367961012
|
0.00001
|
|
NM_001999.4(FBN2):c.4287G>A (p.Pro1429=)
|
rs761049150
|
0.00001
|
|
NM_001999.4(FBN2):c.4296C>T (p.Tyr1432=)
|
rs147046215
|
0.00001
|
|
NM_001999.4(FBN2):c.42G>T (p.Leu14=)
|
rs376407285
|
0.00001
|
|
NM_001999.4(FBN2):c.432A>G (p.Lys144=)
|
rs201247200
|
0.00001
|
|
NM_001999.4(FBN2):c.4346-6G>T
|
rs755217606
|
0.00001
|
|
NM_001999.4(FBN2):c.4406C>T (p.Pro1469Leu)
|
rs770606176
|
0.00001
|
|
NM_001999.4(FBN2):c.4419C>T (p.Arg1473=)
|
rs1750619535
|
0.00001
|
|
NM_001999.4(FBN2):c.4515A>G (p.Thr1505=)
|
rs751938197
|
0.00001
|
|
NM_001999.4(FBN2):c.4595-19T>C
|
rs201459526
|
0.00001
|
|
NM_001999.4(FBN2):c.4608T>C (p.Cys1536=)
|
rs1176811808
|
0.00001
|
|
NM_001999.4(FBN2):c.4690T>C (p.Leu1564=)
|
rs886038504
|
0.00001
|
|
NM_001999.4(FBN2):c.4867C>G (p.Pro1623Ala)
|
rs139830237
|
0.00001
|
|
NM_001999.4(FBN2):c.4879+7A>G
|
rs555328744
|
0.00001
|
|
NM_001999.4(FBN2):c.488A>G (p.His163Arg)
|
rs1029299660
|
0.00001
|
|
NM_001999.4(FBN2):c.4890C>T (p.Tyr1630=)
|
rs1488160637
|
0.00001
|
|
NM_001999.4(FBN2):c.4949-5T>C
|
rs1264068007
|
0.00001
|
|
NM_001999.4(FBN2):c.5074+7T>C
|
rs201951284
|
0.00001
|
|
NM_001999.4(FBN2):c.5075-4C>G
|
rs779999668
|
0.00001
|
|
NM_001999.4(FBN2):c.522T>C (p.Tyr174=)
|
rs573915338
|
0.00001
|
|
NM_001999.4(FBN2):c.5267A>G (p.Asn1756Ser)
|
rs760065931
|
0.00001
|
|
NM_001999.4(FBN2):c.5295A>C (p.Thr1765=)
|
rs941916367
|
0.00001
|
|
NM_001999.4(FBN2):c.5303T>C (p.Val1768Ala)
|
rs779202876
|
0.00001
|
|
NM_001999.4(FBN2):c.533-4G>T
|
rs372596001
|
0.00001
|
|
NM_001999.4(FBN2):c.5353+20A>G
|
rs759401474
|
0.00001
|
|
NM_001999.4(FBN2):c.5354-14T>C
|
rs756825167
|
0.00001
|
|
NM_001999.4(FBN2):c.5427T>C (p.Ile1809=)
|
rs756365546
|
0.00001
|
|
NM_001999.4(FBN2):c.5539G>C (p.Val1847Leu)
|
rs863223610
|
0.00001
|
|
NM_001999.4(FBN2):c.5549-8T>A
|
rs1339062362
|
0.00001
|
|
NM_001999.4(FBN2):c.5587C>T (p.Arg1863Trp)
|
rs1192632165
|
0.00001
|
|
NM_001999.4(FBN2):c.559G>A (p.Gly187Ser)
|
rs773732645
|
0.00001
|
|
NM_001999.4(FBN2):c.5639C>T (p.Ala1880Val)
|
rs779567163
|
0.00001
|
|
NM_001999.4(FBN2):c.5660A>G (p.Asn1887Ser)
|
rs745759959
|
0.00001
|
|
NM_001999.4(FBN2):c.5682T>C (p.Asn1894=)
|
rs991908659
|
0.00001
|
|
NM_001999.4(FBN2):c.5731C>T (p.Leu1911=)
|
rs768733086
|
0.00001
|
|
NM_001999.4(FBN2):c.573C>T (p.Ile191=)
|
rs370698125
|
0.00001
|
|
NM_001999.4(FBN2):c.5800+10G>A
|
rs546373462
|
0.00001
|
|
NM_001999.4(FBN2):c.5899C>T (p.His1967Tyr)
|
rs369652475
|
0.00001
|
|
NM_001999.4(FBN2):c.5918-4A>G
|
rs1382347293
|
0.00001
|
|
NM_001999.4(FBN2):c.5918-7C>G
|
rs750463932
|
0.00001
|
|
NM_001999.4(FBN2):c.5965C>T (p.Arg1989Cys)
|
rs758369648
|
0.00001
|
|
NM_001999.4(FBN2):c.6027A>G (p.Pro2009=)
|
rs147474868
|
0.00001
|
|
NM_001999.4(FBN2):c.6033C>G (p.Gly2011=)
|
rs749647897
|
0.00001
|
|
NM_001999.4(FBN2):c.6093C>G (p.Thr2031=)
|
rs1131691293
|
0.00001
|
|
NM_001999.4(FBN2):c.6205T>C (p.Phe2069Leu)
|
rs1295335940
|
0.00001
|
|
NM_001999.4(FBN2):c.6292+7T>C
|
rs775471488
|
0.00001
|
|
NM_001999.4(FBN2):c.6306C>T (p.Ser2102=)
|
rs374717631
|
0.00001
|
|
NM_001999.4(FBN2):c.6438C>T (p.Asp2146=)
|
rs772832233
|
0.00001
|
|
NM_001999.4(FBN2):c.6445+10A>G
|
rs774706397
|
0.00001
|
|
NM_001999.4(FBN2):c.6445+11T>C
|
rs766726816
|
0.00001
|
|
NM_001999.4(FBN2):c.6450A>T (p.Ala2150=)
|
rs1199375914
|
0.00001
|
|
NM_001999.4(FBN2):c.6477T>C (p.His2159=)
|
rs768972914
|
0.00001
|
|
NM_001999.4(FBN2):c.6511+7T>C
|
rs1201683263
|
0.00001
|
|
NM_001999.4(FBN2):c.6512-14G>A
|
rs765303543
|
0.00001
|
|
NM_001999.4(FBN2):c.6518A>G (p.Asn2173Ser)
|
rs143054385
|
0.00001
|
|
NM_001999.4(FBN2):c.6584G>A (p.Arg2195His)
|
rs144887443
|
0.00001
|
|
NM_001999.4(FBN2):c.6610C>G (p.Leu2204Val)
|
rs201541140
|
0.00001
|
|
NM_001999.4(FBN2):c.6611T>C (p.Leu2204Pro)
|
rs772480416
|
0.00001
|
|
NM_001999.4(FBN2):c.6629G>A (p.Arg2210His)
|
rs745396297
|
0.00001
|
|
NM_001999.4(FBN2):c.6637+18A>G
|
rs777841785
|
0.00001
|
|
NM_001999.4(FBN2):c.6658G>A (p.Gly2220Ser)
|
rs863223582
|
0.00001
|
|
NM_001999.4(FBN2):c.6665C>T (p.Pro2222Leu)
|
rs747908706
|
0.00001
|
|
NM_001999.4(FBN2):c.6669T>C (p.Cys2223=)
|
rs754724355
|
0.00001
|
|
NM_001999.4(FBN2):c.6758-14A>G
|
rs757283004
|
0.00001
|
|
NM_001999.4(FBN2):c.6795T>C (p.Ala2265=)
|
rs753071532
|
0.00001
|
|
NM_001999.4(FBN2):c.680G>A (p.Gly227Glu)
|
rs760247833
|
0.00001
|
|
NM_001999.4(FBN2):c.6834G>A (p.Thr2278=)
|
rs374853253
|
0.00001
|
|
NM_001999.4(FBN2):c.6881-8T>G
|
rs1355994517
|
0.00001
|
|
NM_001999.4(FBN2):c.6896C>T (p.Ala2299Val)
|
rs756798856
|
0.00001
|
|
NM_001999.4(FBN2):c.6960G>A (p.Met2320Ile)
|
rs780214155
|
0.00001
|
|
NM_001999.4(FBN2):c.6996T>C (p.Asp2332=)
|
rs753673393
|
0.00001
|
|
NM_001999.4(FBN2):c.7007G>A (p.Cys2336Tyr)
|
rs760494751
|
0.00001
|
|
NM_001999.4(FBN2):c.7013-18T>C
|
rs375140877
|
0.00001
|
|
NM_001999.4(FBN2):c.7057C>T (p.Arg2353Cys)
|
rs863223586
|
0.00001
|
|
NM_001999.4(FBN2):c.7058G>A (p.Arg2353His)
|
rs775905979
|
0.00001
|
|
NM_001999.4(FBN2):c.7174C>A (p.Gln2392Lys)
|
rs762730300
|
0.00001
|
|
NM_001999.4(FBN2):c.7306A>C (p.Ile2436Leu)
|
rs755134019
|
0.00001
|
|
NM_001999.4(FBN2):c.7308A>T (p.Ile2436=)
|
rs1005611432
|
0.00001
|
|
NM_001999.4(FBN2):c.7317T>C (p.His2439=)
|
rs1554117089
|
0.00001
|
|
NM_001999.4(FBN2):c.7331C>T (p.Thr2444Ile)
|
rs201883128
|
0.00001
|
|
NM_001999.4(FBN2):c.7405A>G (p.Met2469Val)
|
rs863223546
|
0.00001
|
|
NM_001999.4(FBN2):c.7472-14T>A
|
rs772646837
|
0.00001
|
|
NM_001999.4(FBN2):c.7472-17A>G
|
rs773888786
|
0.00001
|
|
NM_001999.4(FBN2):c.7524C>T (p.Asn2508=)
|
rs1765389228
|
0.00001
|
|
NM_001999.4(FBN2):c.7595-8A>G
|
rs878854479
|
0.00001
|
|
NM_001999.4(FBN2):c.7655G>A (p.Gly2552Glu)
|
rs1473525001
|
0.00001
|
|
NM_001999.4(FBN2):c.7659G>A (p.Gly2553=)
|
rs763586091
|
0.00001
|
|
NM_001999.4(FBN2):c.7676C>T (p.Pro2559Leu)
|
rs770193908
|
0.00001
|
|
NM_001999.4(FBN2):c.767C>T (p.Ala256Val)
|
rs1345155944
|
0.00001
|
|
NM_001999.4(FBN2):c.7720G>A (p.Glu2574Lys)
|
rs377689621
|
0.00001
|
|
NM_001999.4(FBN2):c.7740G>A (p.Ser2580=)
|
rs942206547
|
0.00001
|
|
NM_001999.4(FBN2):c.7741C>T (p.Leu2581Phe)
|
rs146316163
|
0.00001
|
|
NM_001999.4(FBN2):c.7767A>G (p.Gln2589=)
|
rs777828326
|
0.00001
|
|
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala)
|
rs774323549
|
0.00001
|
|
NM_001999.4(FBN2):c.787C>T (p.Arg263Trp)
|
rs151329128
|
0.00001
|
|
NM_001999.4(FBN2):c.7886A>G (p.Gln2629Arg)
|
rs768750542
|
0.00001
|
|
NM_001999.4(FBN2):c.7960+20A>G
|
rs761551216
|
0.00001
|
|
NM_001999.4(FBN2):c.7961-11C>T
|
rs751924753
|
0.00001
|
|
NM_001999.4(FBN2):c.8045C>T (p.Ser2682Leu)
|
rs370250073
|
0.00001
|
|
NM_001999.4(FBN2):c.8125G>A (p.Gly2709Ser)
|
rs145809527
|
0.00001
|
|
NM_001999.4(FBN2):c.8193-7C>G
|
rs754837805
|
0.00001
|
|
NM_001999.4(FBN2):c.8196C>T (p.His2732=)
|
rs780426123
|
0.00001
|
|
NM_001999.4(FBN2):c.827-19A>G
|
rs199559284
|
0.00001
|
|
NM_001999.4(FBN2):c.8302A>C (p.Asn2768His)
|
rs1262933234
|
0.00001
|
|
NM_001999.4(FBN2):c.8344C>T (p.His2782Tyr)
|
rs745600341
|
0.00001
|
|
NM_001999.4(FBN2):c.8365-5T>C
|
rs1237152538
|
0.00001
|
|
NM_001999.4(FBN2):c.8365-7C>A
|
rs1185451078
|
0.00001
|
|
NM_001999.4(FBN2):c.8413A>G (p.Met2805Val)
|
rs776610785
|
0.00001
|
|
NM_001999.4(FBN2):c.8417A>T (p.Lys2806Met)
|
rs565816741
|
0.00001
|
|
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg)
|
rs772928933
|
0.00001
|
|
NM_001999.4(FBN2):c.8574G>A (p.Thr2858=)
|
rs573245869
|
0.00001
|
|
NM_001999.4(FBN2):c.8705C>A (p.Ala2902Asp)
|
rs757052151
|
0.00001
|
|
NM_001999.4(FBN2):c.885A>G (p.Thr295=)
|
rs989219711
|
0.00001
|
|
NM_001999.4(FBN2):c.951A>G (p.Glu317=)
|
rs1326391832
|
0.00001
|
|
NM_001999.4(FBN2):c.953-9C>T
|
rs1181205032
|
0.00001
|
|
NM_002334.4(LRP4):c.1049-6G>C
|
rs775792196
|
0.00001
|
|
NM_002334.4(LRP4):c.1212T>C (p.Tyr404=)
|
rs1941501832
|
0.00001
|
|
NM_002334.4(LRP4):c.1251A>G (p.Gln417=)
|
rs753671990
|
0.00001
|
|
NM_002334.4(LRP4):c.1310-7T>A
|
rs1555174059
|
0.00001
|
|
NM_002334.4(LRP4):c.1344C>T (p.Ile448=)
|
rs748651620
|
0.00001
|
|
NM_002334.4(LRP4):c.1599G>A (p.Ser533=)
|
rs745607132
|
0.00001
|
|
NM_002334.4(LRP4):c.1761T>C (p.Ser587=)
|
rs1191198188
|
0.00001
|
|
NM_002334.4(LRP4):c.1815C>T (p.Ile605=)
|
rs776484339
|
0.00001
|
|
NM_002334.4(LRP4):c.186T>C (p.Asp62=)
|
rs1941691871
|
0.00001
|
|
NM_002334.4(LRP4):c.1915+10T>C
|
rs566481615
|
0.00001
|
|
NM_002334.4(LRP4):c.2010G>A (p.Thr670=)
|
rs199654257
|
0.00001
|
|
NM_002334.4(LRP4):c.2118C>T (p.Asn706=)
|
rs762032159
|
0.00001
|
|
NM_002334.4(LRP4):c.21G>A (p.Ala7=)
|
rs967769665
|
0.00001
|
|
NM_002334.4(LRP4):c.2216-13G>A
|
rs376073181
|
0.00001
|
|
NM_002334.4(LRP4):c.2325T>G (p.Ala775=)
|
rs886048354
|
0.00001
|
|
NM_002334.4(LRP4):c.2424+12C>T
|
rs765593279
|
0.00001
|
|
NM_002334.4(LRP4):c.2424+13G>A
|
rs374365893
|
0.00001
|
|
NM_002334.4(LRP4):c.2835C>T (p.Leu945=)
|
rs201362411
|
0.00001
|
|
NM_002334.4(LRP4):c.2859C>T (p.Leu953=)
|
rs1368908778
|
0.00001
|
|
NM_002334.4(LRP4):c.3005-17C>T
|
rs778370608
|
0.00001
|
|
NM_002334.4(LRP4):c.3072C>T (p.Ser1024=)
|
rs537403005
|
0.00001
|
|
NM_002334.4(LRP4):c.3105C>T (p.Asn1035=)
|
rs1000744964
|
0.00001
|
|
NM_002334.4(LRP4):c.3137-8C>T
|
rs1941047135
|
0.00001
|
|
NM_002334.4(LRP4):c.317-11T>C
|
rs776234303
|
0.00001
|
|
NM_002334.4(LRP4):c.3195C>T (p.Asp1065=)
|
rs745991521
|
0.00001
|
|
NM_002334.4(LRP4):c.3277+11C>T
|
rs761158182
|
0.00001
|
|
NM_002334.4(LRP4):c.3365-7C>T
|
rs1565783851
|
0.00001
|
|
NM_002334.4(LRP4):c.339C>T (p.Asp113=)
|
rs368971854
|
0.00001
|
|
NM_002334.4(LRP4):c.3609G>A (p.Ala1203=)
|
rs755263623
|
0.00001
|
|
NM_002334.4(LRP4):c.3699+10G>A
|
rs770541308
|
0.00001
|
|
NM_002334.4(LRP4):c.3825C>T (p.Ile1275=)
|
rs200028319
|
0.00001
|
|
NM_002334.4(LRP4):c.390T>C (p.Asp130=)
|
rs140186161
|
0.00001
|
|
NM_002334.4(LRP4):c.3954C>T (p.Gly1318=)
|
rs1424152195
|
0.00001
|
|
NM_002334.4(LRP4):c.4095G>T (p.Arg1365=)
|
rs771308040
|
0.00001
|
|
NM_002334.4(LRP4):c.4176T>C (p.Tyr1392=)
|
rs1246562304
|
0.00001
|
|
NM_002334.4(LRP4):c.417C>T (p.Ser139=)
|
rs760201117
|
0.00001
|
|
NM_002334.4(LRP4):c.430+7G>A
|
rs1261702662
|
0.00001
|
|
NM_002334.4(LRP4):c.441G>A (p.Lys147=)
|
rs986524567
|
0.00001
|
|
NM_002334.4(LRP4):c.4501T>C (p.Leu1501=)
|
rs766956711
|
0.00001
|
|
NM_002334.4(LRP4):c.4899G>A (p.Ser1633=)
|
rs143849188
|
0.00001
|
|
NM_002334.4(LRP4):c.5064G>A (p.Thr1688=)
|
rs762976165
|
0.00001
|
|
NM_002334.4(LRP4):c.5088-19A>C
|
rs1338147762
|
0.00001
|
|
NM_002334.4(LRP4):c.5088-5C>T
|
rs994961184
|
0.00001
|
|
NM_002334.4(LRP4):c.5118C>T (p.Leu1706=)
|
rs777935842
|
0.00001
|
|
NM_002334.4(LRP4):c.5156-15C>A
|
rs1204328295
|
0.00001
|
|
NM_002334.4(LRP4):c.52+13C>T
|
rs1434991490
|
0.00001
|
|
NM_002334.4(LRP4):c.5247C>T (p.His1749=)
|
rs138596351
|
0.00001
|
|
NM_002334.4(LRP4):c.531C>T (p.Ser177=)
|
rs751226124
|
0.00001
|
|
NM_002334.4(LRP4):c.5370G>A (p.Leu1790=)
|
rs376540994
|
0.00001
|
|
NM_002334.4(LRP4):c.5424G>A (p.Lys1808=)
|
rs772706817
|
0.00001
|
|
NM_002334.4(LRP4):c.548-18C>A
|
rs779705585
|
0.00001
|
|
NM_002334.4(LRP4):c.5574T>C (p.Asp1858=)
|
rs767372541
|
0.00001
|
|
NM_002334.4(LRP4):c.5607G>A (p.Glu1869=)
|
rs762431184
|
0.00001
|
|
NM_002334.4(LRP4):c.724C>T (p.Leu242=)
|
rs1037889784
|
0.00001
|
|
NM_002334.4(LRP4):c.750C>T (p.Cys250=)
|
rs758493823
|
0.00001
|
|
NM_002334.4(LRP4):c.759C>T (p.Asp253=)
|
rs368640705
|
0.00001
|
|
NM_002334.4(LRP4):c.894C>T (p.Asn298=)
|
rs1592542950
|
0.00001
|
|
NM_002334.4(LRP4):c.922+12C>T
|
rs1297911489
|
0.00001
|
|
NM_002334.4(LRP4):c.922+19C>G
|
rs749318305
|
0.00001
|
|
NM_002334.4(LRP4):c.923-19T>C
|
rs528895748
|
0.00001
|
|
NM_002968.3(SALL1):c.1014T>G (p.Ser338=)
|
rs960886445
|
0.00001
|
|
NM_002968.3(SALL1):c.1398C>A (p.Ile466=)
|
rs758330038
|
0.00001
|
|
NM_002968.3(SALL1):c.220G>A (p.Val74Ile)
|
rs529479120
|
0.00001
|
|
NM_003289.4(TPM2):c.114+9C>T
|
rs537297747
|
0.00001
|
|
NM_003289.4(TPM2):c.192G>A (p.Val64=)
|
rs1382163428
|
0.00001
|
|
NM_003289.4(TPM2):c.295C>T (p.Leu99=)
|
rs904588318
|
0.00001
|
|
NM_003289.4(TPM2):c.462C>T (p.Ile154=)
|
rs1294721413
|
0.00001
|
|
NM_003289.4(TPM2):c.492+9C>T
|
rs1037460279
|
0.00001
|
|
NM_003289.4(TPM2):c.493-10C>T
|
rs770755856
|
0.00001
|
|
NM_003289.4(TPM2):c.537G>A (p.Ser179=)
|
rs758819415
|
0.00001
|
|
NM_003289.4(TPM2):c.558C>T (p.Ala186=)
|
rs746177794
|
0.00001
|
|
NM_003289.4(TPM2):c.563+13G>C
|
rs200644786
|
0.00001
|
|
NM_003289.4(TPM2):c.564-9C>T
|
rs763429317
|
0.00001
|
|
NM_003289.4(TPM2):c.588G>A (p.Glu196=)
|
rs777013950
|
0.00001
|
|
NM_003289.4(TPM2):c.640-15G>A
|
rs374069635
|
0.00001
|
|
NM_003289.4(TPM2):c.640-18dup
|
rs746703203
|
0.00001
|
|
NM_003289.4(TPM2):c.640-19G>A
|
rs1455692788
|
0.00001
|
|
NM_003289.4(TPM2):c.645C>T (p.Ser215=)
|
rs1231488023
|
0.00001
|
|
NM_003289.4(TPM2):c.813C>T (p.Ser271=)
|
rs201215303
|
0.00001
|
|
NM_003334.4(UBA1):c.1047C>T (p.Pro349=)
|
rs782664927
|
0.00001
|
|
NM_003334.4(UBA1):c.1353T>C (p.Tyr451=)
|
rs1488418187
|
0.00001
|
|
NM_003334.4(UBA1):c.1401C>G (p.Gly467=)
|
rs782569910
|
0.00001
|
|
NM_003334.4(UBA1):c.147C>T (p.Asp49=)
|
rs1556786556
|
0.00001
|
|
NM_003334.4(UBA1):c.1576-20G>A
|
rs377335190
|
0.00001
|
|
NM_003334.4(UBA1):c.1758C>T (p.Arg586=)
|
rs782655127
|
0.00001
|
|
NM_003334.4(UBA1):c.1929C>T (p.His643=)
|
rs782419696
|
0.00001
|
|
NM_003334.4(UBA1):c.2115C>T (p.Asp705=)
|
rs1481710267
|
0.00001
|
|
NM_003334.4(UBA1):c.2136C>T (p.His712=)
|
rs781845476
|
0.00001
|
|
NM_003334.4(UBA1):c.2187C>T (p.Phe729=)
|
rs1480401128
|
0.00001
|
|
NM_003334.4(UBA1):c.2202C>A (p.Leu734=)
|
rs1556793129
|
0.00001
|
|
NM_003334.4(UBA1):c.231A>G (p.Val77=)
|
rs1556786690
|
0.00001
|
|
NM_003334.4(UBA1):c.2371C>T (p.Leu791=)
|
rs1556793265
|
0.00001
|
|
NM_003334.4(UBA1):c.2412C>T (p.Gly804=)
|
rs201456998
|
0.00001
|
|
NM_003334.4(UBA1):c.2554-6T>C
|
rs370565575
|
0.00001
|
|
NM_003334.4(UBA1):c.2586C>T (p.Ile862=)
|
rs150512668
|
0.00001
|
|
NM_003334.4(UBA1):c.2640G>C (p.Arg880=)
|
rs1262504002
|
0.00001
|
|
NM_003334.4(UBA1):c.2688G>A (p.Thr896=)
|
rs781811327
|
0.00001
|
|
NM_003334.4(UBA1):c.2763C>G (p.Ser921=)
|
rs1317157419
|
0.00001
|
|
NM_003334.4(UBA1):c.2831G>A (p.Arg944His)
|
rs782687555
|
0.00001
|
|
NM_003334.4(UBA1):c.303A>G (p.Leu101=)
|
rs782052238
|
0.00001
|
|
NM_003334.4(UBA1):c.3060C>T (p.Ser1020=)
|
rs782246207
|
0.00001
|
|
NM_003334.4(UBA1):c.3132C>T (p.Ser1044=)
|
rs781808756
|
0.00001
|
|
NM_003334.4(UBA1):c.330T>G (p.Ala110=)
|
rs781828321
|
0.00001
|
|
NM_003334.4(UBA1):c.360G>A (p.Glu120=)
|
rs782436604
|
0.00001
|
|
NM_003334.4(UBA1):c.453C>T (p.Leu151=)
|
rs782803598
|
0.00001
|
|
NM_003334.4(UBA1):c.465C>T (p.Phe155=)
|
rs1556787010
|
0.00001
|
|
NM_003334.4(UBA1):c.573G>A (p.Thr191=)
|
rs1556787692
|
0.00001
|
|
NM_003334.4(UBA1):c.603C>T (p.Asp201=)
|
rs782085880
|
0.00001
|
|
NM_003334.4(UBA1):c.663T>A (p.Val221=)
|
rs782741702
|
0.00001
|
|
NM_004380.3(CREBBP):c.1089T>C (p.His363=)
|
rs969407052
|
0.00001
|
|
NM_004380.3(CREBBP):c.1331-12T>C
|
rs779542354
|
0.00001
|
|
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg)
|
rs766320521
|
0.00001
|
|
NM_004380.3(CREBBP):c.2043C>T (p.Asn681=)
|
rs555628489
|
0.00001
|
|
NM_004380.3(CREBBP):c.2064G>A (p.Pro688=)
|
rs766050154
|
0.00001
|
|
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)
|
rs542970560
|
0.00001
|
|
NM_004380.3(CREBBP):c.2626G>A (p.Gly876Arg)
|
rs746552957
|
0.00001
|
|
NM_004380.3(CREBBP):c.2823C>T (p.Thr941=)
|
rs762072105
|
0.00001
|
|
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=)
|
rs1053049323
|
0.00001
|
|
NM_004380.3(CREBBP):c.320C>T (p.Pro107Leu)
|
rs766844540
|
0.00001
|
|
NM_004380.3(CREBBP):c.3252C>T (p.Ile1084=)
|
rs190925539
|
0.00001
|
|
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=)
|
rs1447337021
|
0.00001
|
|
NM_004380.3(CREBBP):c.3576C>G (p.Val1192=)
|
rs775872294
|
0.00001
|
|
NM_004380.3(CREBBP):c.3828C>T (p.Asp1276=)
|
rs745617177
|
0.00001
|
|
NM_004380.3(CREBBP):c.3837-18G>A
|
rs780739661
|
0.00001
|
|
NM_004380.3(CREBBP):c.4344C>T (p.Ala1448=)
|
rs777425519
|
0.00001
|
|
NM_004380.3(CREBBP):c.501C>T (p.Ala167=)
|
rs376613398
|
0.00001
|
|
NM_004380.3(CREBBP):c.5709G>A (p.Pro1903=)
|
rs773624477
|
0.00001
|
|
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala)
|
rs1321085895
|
0.00001
|
|
NM_004380.3(CREBBP):c.6054C>T (p.Pro2018=)
|
rs768626011
|
0.00001
|
|
NM_004380.3(CREBBP):c.6228G>A (p.Ser2076=)
|
rs759497776
|
0.00001
|
|
NM_004380.3(CREBBP):c.6279C>T (p.Asn2093=)
|
rs762700575
|
0.00001
|
|
NM_004380.3(CREBBP):c.6282G>A (p.Pro2094=)
|
rs772950054
|
0.00001
|
|
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)
|
rs1211983012
|
0.00001
|
|
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu)
|
rs587783512
|
0.00001
|
|
NM_004380.3(CREBBP):c.6450G>A (p.Pro2150=)
|
rs371497730
|
0.00001
|
|
NM_004380.3(CREBBP):c.651C>T (p.Gly217=)
|
rs375403937
|
0.00001
|
|
NM_004380.3(CREBBP):c.7239C>T (p.Asn2413=)
|
rs757539209
|
0.00001
|
|
NM_004380.3(CREBBP):c.825A>C (p.Pro275=)
|
rs370509157
|
0.00001
|
|
NM_004380.3(CREBBP):c.960C>T (p.Thr320=)
|
rs898885851
|
0.00001
|
|
NM_004380.3(CREBBP):c.975+14G>A
|
rs535745718
|
0.00001
|
|
NM_004629.2(FANCG):c.1005C>T (p.Ala335=)
|
rs1243179658
|
0.00001
|
|
NM_004629.2(FANCG):c.1077-19A>T
|
rs771086628
|
0.00001
|
|
NM_004629.2(FANCG):c.1086C>T (p.Asp362=)
|
rs376623996
|
0.00001
|
|
NM_004629.2(FANCG):c.1095G>A (p.Glu365=)
|
rs1587140720
|
0.00001
|
|
NM_004629.2(FANCG):c.1128T>C (p.Asp376=)
|
rs1428329520
|
0.00001
|
|
NM_004629.2(FANCG):c.1134G>A (p.Ser378=)
|
rs530574134
|
0.00001
|
|
NM_004629.2(FANCG):c.1144-9C>T
|
rs778217810
|
0.00001
|
|
NM_004629.2(FANCG):c.1188G>A (p.Val396=)
|
rs771715036
|
0.00001
|
|
NM_004629.2(FANCG):c.1203G>A (p.Ala401=)
|
rs770325434
|
0.00001
|
|
NM_004629.2(FANCG):c.1233A>G (p.Gln411=)
|
rs371809395
|
0.00001
|
|
NM_004629.2(FANCG):c.124T>C (p.Leu42=)
|
rs775053536
|
0.00001
|
|
NM_004629.2(FANCG):c.1287C>T (p.Pro429=)
|
rs767253119
|
0.00001
|
|
NM_004629.2(FANCG):c.1365C>G (p.Thr455=)
|
rs767385265
|
0.00001
|
|
NM_004629.2(FANCG):c.1422T>C (p.Ser474=)
|
rs144369518
|
0.00001
|
|
NM_004629.2(FANCG):c.1433+12G>A
|
rs201070684
|
0.00001
|
|
NM_004629.2(FANCG):c.1433+8C>T
|
rs772542885
|
0.00001
|
|
NM_004629.2(FANCG):c.1434-6C>T
|
rs1404150675
|
0.00001
|
|
NM_004629.2(FANCG):c.1437C>T (p.Cys479=)
|
rs904322133
|
0.00001
|
|
NM_004629.2(FANCG):c.1473A>G (p.Lys491=)
|
rs769921972
|
0.00001
|
|
NM_004629.2(FANCG):c.1481-4C>A
|
rs1829057884
|
0.00001
|
|
NM_004629.2(FANCG):c.1497T>C (p.Cys499=)
|
rs1340517333
|
0.00001
|
|
NM_004629.2(FANCG):c.1563A>G (p.Gly521=)
|
rs1240720328
|
0.00001
|
|
NM_004629.2(FANCG):c.156G>C (p.Gly52=)
|
rs778234892
|
0.00001
|
|
NM_004629.2(FANCG):c.1575A>G (p.Val525=)
|
rs1340065874
|
0.00001
|
|
NM_004629.2(FANCG):c.1578C>T (p.Ala526=)
|
rs1060504371
|
0.00001
|
|
NM_004629.2(FANCG):c.1617C>T (p.Leu539=)
|
rs1000355215
|
0.00001
|
|
NM_004629.2(FANCG):c.1662G>A (p.Leu554=)
|
rs750982155
|
0.00001
|
|
NM_004629.2(FANCG):c.175+7G>A
|
rs1340619797
|
0.00001
|
|
NM_004629.2(FANCG):c.1806C>T (p.Pro602=)
|
rs756632525
|
0.00001
|
|
NM_004629.2(FANCG):c.1815T>C (p.Arg605=)
|
rs1455440698
|
0.00001
|
|
NM_004629.2(FANCG):c.1818C>T (p.Asp606=)
|
rs766524415
|
0.00001
|
|
NM_004629.2(FANCG):c.282G>A (p.Gln94=)
|
rs1373739426
|
0.00001
|
|
NM_004629.2(FANCG):c.308-11A>G
|
rs371822998
|
0.00001
|
|
NM_004629.2(FANCG):c.387C>T (p.Ser129=)
|
rs1419629240
|
0.00001
|
|
NM_004629.2(FANCG):c.423C>A (p.Arg141=)
|
rs1829121800
|
0.00001
|
|
NM_004629.2(FANCG):c.495C>G (p.Thr165=)
|
rs1829120053
|
0.00001
|
|
NM_004629.2(FANCG):c.549T>C (p.Thr183=)
|
rs1163330730
|
0.00001
|
|
NM_004629.2(FANCG):c.564T>C (p.Ala188=)
|
rs1015283839
|
0.00001
|
|
NM_004629.2(FANCG):c.646+9G>A
|
rs1829102198
|
0.00001
|
|
NM_004629.2(FANCG):c.647-15C>A
|
rs764036260
|
0.00001
|
|
NM_004629.2(FANCG):c.654G>A (p.Gln218=)
|
rs1260636663
|
0.00001
|
|
NM_004629.2(FANCG):c.678C>T (p.Asp226=)
|
rs1187334238
|
0.00001
|
|
NM_004629.2(FANCG):c.6C>T (p.Ser2=)
|
rs774139167
|
0.00001
|
|
NM_004629.2(FANCG):c.747C>T (p.Tyr249=)
|
rs1043957
|
0.00001
|
|
NM_004629.2(FANCG):c.774G>A (p.Lys258=)
|
rs1159014432
|
0.00001
|
|
NM_004629.2(FANCG):c.777+8C>G
|
rs367809061
|
0.00001
|
|
NM_004629.2(FANCG):c.778-20G>T
|
rs749563301
|
0.00001
|
|
NM_004629.2(FANCG):c.84+9G>T
|
rs759504806
|
0.00001
|
|
NM_004629.2(FANCG):c.840T>C (p.Gly280=)
|
rs778142751
|
0.00001
|
|
NM_004629.2(FANCG):c.85-19C>T
|
rs1028747262
|
0.00001
|
|
NM_004629.2(FANCG):c.85-8T>C
|
rs767607055
|
0.00001
|
|
NM_004629.2(FANCG):c.925-6T>C
|
rs768761780
|
0.00001
|
|
NM_004629.2(FANCG):c.999C>T (p.Asp333=)
|
rs762238437
|
0.00001
|
|
NM_005055.5(RAPSN):c.1038G>A (p.Arg346=)
|
rs764482974
|
0.00001
|
|
NM_005055.5(RAPSN):c.1044C>T (p.His348=)
|
rs1014137280
|
0.00001
|
|
NM_005055.5(RAPSN):c.1089C>T (p.Cys363=)
|
rs150934532
|
0.00001
|
|
NM_005055.5(RAPSN):c.1119G>A (p.Lys373=)
|
rs1048200516
|
0.00001
|
|
NM_005055.5(RAPSN):c.111G>A (p.Ser37=)
|
rs146825957
|
0.00001
|
|
NM_005055.5(RAPSN):c.1155C>T (p.Ile385=)
|
rs1368702539
|
0.00001
|
|
NM_005055.5(RAPSN):c.1166+18G>A
|
rs536788411
|
0.00001
|
|
NM_005055.5(RAPSN):c.1176G>A (p.Gln392=)
|
rs1353799875
|
0.00001
|
|
NM_005055.5(RAPSN):c.1182C>T (p.Asn394=)
|
rs530896580
|
0.00001
|
|
NM_005055.5(RAPSN):c.1212C>T (p.Arg404=)
|
rs2076326463
|
0.00001
|
|
NM_005055.5(RAPSN):c.132C>T (p.Arg44=)
|
rs772917848
|
0.00001
|
|
NM_005055.5(RAPSN):c.150C>A (p.Val50=)
|
rs768214983
|
0.00001
|
|
NM_005055.5(RAPSN):c.192+12C>T
|
rs774654232
|
0.00001
|
|
NM_005055.5(RAPSN):c.192+7G>T
|
rs767745050
|
0.00001
|
|
NM_005055.5(RAPSN):c.195C>T (p.Phe65=)
|
rs772563068
|
0.00001
|
|
NM_005055.5(RAPSN):c.210C>T (p.Ile70=)
|
rs773975835
|
0.00001
|
|
NM_005055.5(RAPSN):c.219C>G (p.Ala73=)
|
rs2076424955
|
0.00001
|
|
NM_005055.5(RAPSN):c.237C>T (p.Ala79=)
|
rs888989685
|
0.00001
|
|
NM_005055.5(RAPSN):c.321G>A (p.Lys107=)
|
rs781529364
|
0.00001
|
|
NM_005055.5(RAPSN):c.345C>A (p.Thr115=)
|
rs1353205717
|
0.00001
|
|
NM_005055.5(RAPSN):c.408C>T (p.Leu136=)
|
rs1466576877
|
0.00001
|
|
NM_005055.5(RAPSN):c.429G>A (p.Leu143=)
|
rs762052702
|
0.00001
|
|
NM_005055.5(RAPSN):c.438C>T (p.Phe146=)
|
rs1459059463
|
0.00001
|
|
NM_005055.5(RAPSN):c.483C>T (p.Leu161=)
|
rs754775068
|
0.00001
|
|
NM_005055.5(RAPSN):c.528C>G (p.Val176=)
|
rs761149747
|
0.00001
|
|
NM_005055.5(RAPSN):c.532-12T>C
|
rs768129120
|
0.00001
|
|
NM_005055.5(RAPSN):c.558C>T (p.Pro186=)
|
rs773462623
|
0.00001
|
|
NM_005055.5(RAPSN):c.576T>C (p.Leu192=)
|
rs745749798
|
0.00001
|
|
NM_005055.5(RAPSN):c.645C>T (p.Ala215=)
|
rs1338665465
|
0.00001
|
|
NM_005055.5(RAPSN):c.691-5C>T
|
rs1291023159
|
0.00001
|
|
NM_005055.5(RAPSN):c.723C>T (p.Asp241=)
|
rs769383562
|
0.00001
|
|
NM_005055.5(RAPSN):c.738G>A (p.Ala246=)
|
rs889862832
|
0.00001
|
|
NM_005055.5(RAPSN):c.789+17G>A
|
rs369690955
|
0.00001
|
|
NM_005055.5(RAPSN):c.813C>T (p.Ser271=)
|
rs760253392
|
0.00001
|
|
NM_005055.5(RAPSN):c.90A>G (p.Thr30=)
|
rs753896492
|
0.00001
|
|
NM_005055.5(RAPSN):c.912+11G>T
|
rs780444573
|
0.00001
|
|
NM_005055.5(RAPSN):c.912+8C>T
|
rs375174267
|
0.00001
|
|
NM_005055.5(RAPSN):c.913-18C>T
|
rs570429072
|
0.00001
|
|
NM_005055.5(RAPSN):c.927C>T (p.Ile309=)
|
rs144813373
|
0.00001
|
|
NM_005055.5(RAPSN):c.957G>C (p.Val319=)
|
rs794727796
|
0.00001
|
|
NM_005055.5(RAPSN):c.967-10C>T
|
rs754320492
|
0.00001
|
|
NM_005055.5(RAPSN):c.987C>T (p.His329=)
|
rs1340342787
|
0.00001
|
|
NM_005236.3(ERCC4):c.1102+7T>A
|
rs766826151
|
0.00001
|
|
NM_005236.3(ERCC4):c.1116A>G (p.Glu372=)
|
rs760060914
|
0.00001
|
|
NM_005236.3(ERCC4):c.1214-4T>G
|
rs2032257283
|
0.00001
|
|
NM_005236.3(ERCC4):c.1347C>A (p.Val449=)
|
rs1352012558
|
0.00001
|
|
NM_005236.3(ERCC4):c.1554A>C (p.Ile518=)
|
rs768020598
|
0.00001
|
|
NM_005236.3(ERCC4):c.15G>A (p.Gln5=)
|
rs748509102
|
0.00001
|
|
NM_005236.3(ERCC4):c.1632C>T (p.Phe544=)
|
rs1002156756
|
0.00001
|
|
NM_005236.3(ERCC4):c.1899C>G (p.Leu633=)
|
rs954215121
|
0.00001
|
|
NM_005236.3(ERCC4):c.1905-7C>G
|
rs1459073174
|
0.00001
|
|
NM_005236.3(ERCC4):c.1971A>G (p.Val657=)
|
rs993218238
|
0.00001
|
|
NM_005236.3(ERCC4):c.2175G>A (p.Glu725=)
|
rs769731155
|
0.00001
|
|
NM_005236.3(ERCC4):c.2178C>T (p.Arg726=)
|
rs1255618541
|
0.00001
|
|
NM_005236.3(ERCC4):c.2199C>T (p.Ile733=)
|
rs372425414
|
0.00001
|
|
NM_005236.3(ERCC4):c.2223C>T (p.Leu741=)
|
rs1477890575
|
0.00001
|
|
NM_005236.3(ERCC4):c.228G>A (p.Leu76=)
|
rs61760162
|
0.00001
|
|
NM_005236.3(ERCC4):c.2421T>C (p.His807=)
|
rs1387272253
|
0.00001
|
|
NM_005236.3(ERCC4):c.2434T>C (p.Leu812=)
|
rs1295720869
|
0.00001
|
|
NM_005236.3(ERCC4):c.2646C>T (p.Asp882=)
|
rs538267970
|
0.00001
|
|
NM_005236.3(ERCC4):c.718C>T (p.Leu240=)
|
rs746904084
|
0.00001
|
|
NM_005236.3(ERCC4):c.840G>A (p.Lys280=)
|
rs886051659
|
0.00001
|
|
NM_005236.3(ERCC4):c.924T>C (p.Asn308=)
|
rs1408777193
|
0.00001
|
|
NM_005236.3(ERCC4):c.948G>A (p.Thr316=)
|
rs770736492
|
0.00001
|
|
NM_005236.3(ERCC4):c.974-17T>C
|
rs2032183635
|
0.00001
|
|
NM_005445.4(SMC3):c.2163C>T (p.Ile721=)
|
rs1193209124
|
0.00001
|
|
NM_005445.4(SMC3):c.2352T>C (p.Asp784=)
|
rs768545555
|
0.00001
|
|
NM_005445.4(SMC3):c.3228G>A (p.Glu1076=)
|
rs768560730
|
0.00001
|
|
NM_005445.4(SMC3):c.3363C>T (p.Ser1121=)
|
rs1332828083
|
0.00001
|
|
NM_005445.4(SMC3):c.372C>T (p.Leu124=)
|
rs972620847
|
0.00001
|
|
NM_005445.4(SMC3):c.621G>A (p.Lys207=)
|
rs1412736656
|
0.00001
|
|
NM_005445.4(SMC3):c.959G>C (p.Ser320Thr)
|
rs755859881
|
0.00001
|
|
NM_005592.4(MUSK):c.1329C>T (p.Asp443=)
|
rs1174184253
|
0.00001
|
|
NM_005592.4(MUSK):c.1360+6dup
|
rs1329670157
|
0.00001
|
|
NM_005592.4(MUSK):c.138T>C (p.Thr46=)
|
rs776479773
|
0.00001
|
|
NM_005592.4(MUSK):c.1419G>A (p.Val473=)
|
rs750052542
|
0.00001
|
|
NM_005592.4(MUSK):c.1446C>T (p.Ser482=)
|
rs754903785
|
0.00001
|
|
NM_005592.4(MUSK):c.1512T>C (p.Phe504=)
|
rs374722867
|
0.00001
|
|
NM_005592.4(MUSK):c.1650C>T (p.Pro550=)
|
rs2077842363
|
0.00001
|
|
NM_005592.4(MUSK):c.1755G>A (p.Ala585=)
|
rs377355441
|
0.00001
|
|
NM_005592.4(MUSK):c.1767G>C (p.Val589=)
|
rs546916589
|
0.00001
|
|
NM_005592.4(MUSK):c.1778+17A>G
|
rs769781832
|
0.00001
|
|
NM_005592.4(MUSK):c.1778+20A>G
|
rs773113428
|
0.00001
|
|
NM_005592.4(MUSK):c.2397C>T (p.Gly799=)
|
rs775509048
|
0.00001
|
|
NM_005592.4(MUSK):c.2433C>T (p.Val811=)
|
rs761652640
|
0.00001
|
|
NM_005592.4(MUSK):c.57C>T (p.Ser19=)
|
rs750615817
|
0.00001
|
|
NM_005592.4(MUSK):c.951C>T (p.Cys317=)
|
rs1311522447
|
0.00001
|
|
NM_006265.3(RAD21):c.1065G>A (p.Pro355=)
|
rs202233096
|
0.00001
|
|
NM_006265.3(RAD21):c.1068C>T (p.Pro356=)
|
rs1348606480
|
0.00001
|
|
NM_006265.3(RAD21):c.1349G>A (p.Arg450His)
|
rs1051321465
|
0.00001
|
|
NM_006265.3(RAD21):c.1848G>A (p.Pro616=)
|
rs761965871
|
0.00001
|
|
NM_006306.4(SMC1A):c.102T>C (p.Asn34=)
|
rs782100278
|
0.00001
|
|
NM_006306.4(SMC1A):c.1410T>C (p.Ile470=)
|
rs782223677
|
0.00001
|
|
NM_006306.4(SMC1A):c.1563C>T (p.Asp521=)
|
rs781957759
|
0.00001
|
|
NM_006306.4(SMC1A):c.1726C>T (p.Leu576=)
|
rs781835493
|
0.00001
|
|
NM_006306.4(SMC1A):c.1758G>T (p.Arg586=)
|
rs782379340
|
0.00001
|
|
NM_006306.4(SMC1A):c.1860C>T (p.Asp620=)
|
rs1458553359
|
0.00001
|
|
NM_006306.4(SMC1A):c.1911+7A>G
|
rs2075687773
|
0.00001
|
|
NM_006306.4(SMC1A):c.1917G>A (p.Val639=)
|
rs782292864
|
0.00001
|
|
NM_006306.4(SMC1A):c.2039G>A (p.Arg680His)
|
rs1556889522
|
0.00001
|
|
NM_006306.4(SMC1A):c.2046A>G (p.Thr682=)
|
rs1388761806
|
0.00001
|
|
NM_006306.4(SMC1A):c.2313+14G>T
|
rs1556889255
|
0.00001
|
|
NM_006306.4(SMC1A):c.2421-15C>A
|
rs1002384123
|
0.00001
|
|
NM_006306.4(SMC1A):c.2421-4A>G
|
rs782673405
|
0.00001
|
|
NM_006306.4(SMC1A):c.2505A>G (p.Val835=)
|
rs782491758
|
0.00001
|
|
NM_006306.4(SMC1A):c.2508C>A (p.His836Gln)
|
rs904926146
|
0.00001
|
|
NM_006306.4(SMC1A):c.2694C>T (p.Leu898=)
|
rs886362301
|
0.00001
|
|
NM_006306.4(SMC1A):c.2709-10C>A
|
rs2083250975
|
0.00001
|
|
NM_006306.4(SMC1A):c.2788C>T (p.Leu930=)
|
rs781912370
|
0.00001
|
|
NM_006306.4(SMC1A):c.285C>G (p.Ala95=)
|
rs587784414
|
0.00001
|
|
NM_006306.4(SMC1A):c.2950G>A (p.Gly984Ser)
|
rs782381563
|
0.00001
|
|
NM_006306.4(SMC1A):c.2956C>T (p.Leu986=)
|
rs1556887757
|
0.00001
|
|
NM_006306.4(SMC1A):c.3252C>T (p.Ile1084=)
|
rs587784417
|
0.00001
|
|
NM_006306.4(SMC1A):c.3286-4C>T
|
rs1556885985
|
0.00001
|
|
NM_006306.4(SMC1A):c.3286-7C>T
|
rs782657390
|
0.00001
|
|
NM_006306.4(SMC1A):c.3437+10A>T
|
rs782079503
|
0.00001
|
|
NM_006306.4(SMC1A):c.3463C>T (p.Leu1155=)
|
rs781977704
|
0.00001
|
|
NM_006306.4(SMC1A):c.3570G>A (p.Lys1190=)
|
rs138015913
|
0.00001
|
|
NM_006306.4(SMC1A):c.3627C>T (p.Asp1209=)
|
rs1313105752
|
0.00001
|
|
NM_006306.4(SMC1A):c.402C>T (p.Leu134=)
|
rs1211706449
|
0.00001
|
|
NM_006306.4(SMC1A):c.42G>C (p.Ser14=)
|
rs1463770411
|
0.00001
|
|
NM_006306.4(SMC1A):c.480T>A (p.Arg160=)
|
rs782369322
|
0.00001
|
|
NM_006306.4(SMC1A):c.495G>A (p.Ala165=)
|
rs782260918
|
0.00001
|
|
NM_006306.4(SMC1A):c.552T>C (p.Phe184=)
|
rs1556890821
|
0.00001
|
|
NM_006306.4(SMC1A):c.63C>T (p.Ile21=)
|
rs781999328
|
0.00001
|
|
NM_006306.4(SMC1A):c.675C>T (p.Leu225=)
|
rs782182228
|
0.00001
|
|
NM_006306.4(SMC1A):c.753G>A (p.Lys251=)
|
rs782297601
|
0.00001
|
|
NM_006306.4(SMC1A):c.855-13C>T
|
rs1556890636
|
0.00001
|
|
NM_006306.4(SMC1A):c.986G>A (p.Arg329His)
|
rs782449052
|
0.00001
|
|
NM_012243.3(SLC35A3):c.188-10T>C
|
rs1184385628
|
0.00001
|
|
NM_012243.3(SLC35A3):c.198A>G (p.Leu66=)
|
rs779900260
|
0.00001
|
|
NM_012243.3(SLC35A3):c.21C>T (p.Tyr7=)
|
rs775151826
|
0.00001
|
|
NM_012243.3(SLC35A3):c.252A>C (p.Thr84=)
|
rs760512680
|
0.00001
|
|
NM_012243.3(SLC35A3):c.378A>G (p.Leu126=)
|
rs761280692
|
0.00001
|
|
NM_012243.3(SLC35A3):c.406T>C (p.Leu136=)
|
rs1226291849
|
0.00001
|
|
NM_012243.3(SLC35A3):c.439T>C (p.Leu147=)
|
rs1055726
|
0.00001
|
|
NM_012243.3(SLC35A3):c.465+7A>C
|
rs1460106177
|
0.00001
|
|
NM_012243.3(SLC35A3):c.466-5T>C
|
rs767037243
|
0.00001
|
|
NM_012243.3(SLC35A3):c.528C>T (p.Leu176=)
|
rs1176598016
|
0.00001
|
|
NM_012243.3(SLC35A3):c.540C>T (p.Leu180=)
|
rs1031141712
|
0.00001
|
|
NM_012243.3(SLC35A3):c.546A>G (p.Ala182=)
|
rs745812553
|
0.00001
|
|
NM_012243.3(SLC35A3):c.585A>G (p.Lys195=)
|
rs747139028
|
0.00001
|
|
NM_012243.3(SLC35A3):c.606A>G (p.Gln202=)
|
rs370227291
|
0.00001
|
|
NM_012243.3(SLC35A3):c.780T>C (p.Ala260=)
|
rs1287725180
|
0.00001
|
|
NM_012243.3(SLC35A3):c.927T>G (p.Thr309=)
|
rs753983040
|
0.00001
|
|
NM_012243.3(SLC35A3):c.942T>C (p.Tyr314=)
|
rs1462890927
|
0.00001
|
|
NM_012243.3(SLC35A3):c.957A>G (p.Ala319=)
|
rs139278027
|
0.00001
|
|
NM_012243.3(SLC35A3):c.975A>G (p.Ala325=)
|
rs1425121794
|
0.00001
|
|
NM_013352.4(DSE):c.1278A>G (p.Ala426=)
|
rs1253141581
|
0.00001
|
|
NM_013352.4(DSE):c.1437C>T (p.Phe479=)
|
rs757356537
|
0.00001
|
|
NM_013352.4(DSE):c.1491C>T (p.Pro497=)
|
rs768130032
|
0.00001
|
|
NM_013352.4(DSE):c.1512A>G (p.Glu504=)
|
rs200018749
|
0.00001
|
|
NM_013352.4(DSE):c.243C>T (p.Ser81=)
|
rs780478969
|
0.00001
|
|
NM_013352.4(DSE):c.2580A>G (p.Leu860=)
|
rs1361177296
|
0.00001
|
|
NM_013352.4(DSE):c.2724C>T (p.Asn908=)
|
rs750711471
|
0.00001
|
|
NM_013352.4(DSE):c.2766T>C (p.Tyr922=)
|
rs148311424
|
0.00001
|
|
NM_013352.4(DSE):c.416+13C>T
|
rs765373035
|
0.00001
|
|
NM_013352.4(DSE):c.670+12C>T
|
rs190922886
|
0.00001
|
|
NM_013352.4(DSE):c.75C>T (p.Thr25=)
|
rs752936676
|
0.00001
|
|
NM_013352.4(DSE):c.864G>A (p.Pro288=)
|
rs780424278
|
0.00001
|
|
NM_013352.4(DSE):c.885A>C (p.Ala295=)
|
rs1444681997
|
0.00001
|
|
NM_013352.4(DSE):c.911-15A>G
|
rs1232495093
|
0.00001
|
|
NM_014918.5(CHSY1):c.1224T>C (p.Ile408=)
|
rs1463101536
|
0.00001
|
|
NM_014918.5(CHSY1):c.1494T>C (p.Asn498=)
|
rs567994246
|
0.00001
|
|
NM_014918.5(CHSY1):c.51C>T (p.Val17=)
|
rs1192394140
|
0.00001
|
|
NM_014918.5(CHSY1):c.645T>A (p.Gly215=)
|
rs567957962
|
0.00001
|
|
NM_014918.5(CHSY1):c.816+10G>C
|
rs1261634441
|
0.00001
|
|
NM_016277.5(RAB23):c.117G>A (p.Lys39=)
|
rs771469793
|
0.00001
|
|
NM_016277.5(RAB23):c.155+6dup
|
rs761067059
|
0.00001
|
|
NM_016277.5(RAB23):c.184T>C (p.Leu62=)
|
rs779101760
|
0.00001
|
|
NM_016277.5(RAB23):c.218C>T (p.Ala73Val)
|
rs556931606
|
0.00001
|
|
NM_016277.5(RAB23):c.222T>C (p.Ile74=)
|
rs759497648
|
0.00001
|
|
NM_016277.5(RAB23):c.24C>T (p.Val8=)
|
rs752991124
|
0.00001
|
|
NM_016277.5(RAB23):c.327C>T (p.Ala109=)
|
rs370959474
|
0.00001
|
|
NM_016277.5(RAB23):c.333G>A (p.Val111=)
|
rs749833240
|
0.00001
|
|
NM_016277.5(RAB23):c.351A>G (p.Val117=)
|
rs751291871
|
0.00001
|
|
NM_016277.5(RAB23):c.398+10C>T
|
rs897972213
|
0.00001
|
|
NM_016277.5(RAB23):c.398+9G>A
|
rs376839366
|
0.00001
|
|
NM_016277.5(RAB23):c.399-6G>A
|
rs778655052
|
0.00001
|
|
NM_016277.5(RAB23):c.426G>A (p.Arg142=)
|
rs763680429
|
0.00001
|
|
NM_016277.5(RAB23):c.482-9T>G
|
rs777259479
|
0.00001
|
|
NM_016277.5(RAB23):c.48G>C (p.Gly16=)
|
rs1454253077
|
0.00001
|
|
NM_016277.5(RAB23):c.547C>T (p.Leu183=)
|
rs1473586028
|
0.00001
|
|
NM_016277.5(RAB23):c.555T>C (p.His185=)
|
rs765954442
|
0.00001
|
|
NM_016277.5(RAB23):c.574+10T>C
|
rs754164616
|
0.00001
|
|
NM_016277.5(RAB23):c.574+8C>T
|
rs779119268
|
0.00001
|
|
NM_016277.5(RAB23):c.582T>C (p.Phe194=)
|
rs1332930442
|
0.00001
|
|
NM_016277.5(RAB23):c.603C>T (p.His201=)
|
rs372315508
|
0.00001
|
|
NM_016277.5(RAB23):c.627C>T (p.Leu209=)
|
rs1318546806
|
0.00001
|
|
NM_016277.5(RAB23):c.693T>C (p.Phe231=)
|
rs1764796444
|
0.00001
|
|
NM_016277.5(RAB23):c.699C>T (p.Ser233=)
|
rs755447089
|
0.00001
|
|
NM_016277.5(RAB23):c.714A>G (p.Ter238=)
|
rs142290596
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1007T>C (p.Ile336Thr)
|
rs753734433
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1039G>A (p.Gly347Ser)
|
rs746187371
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1094G>A (p.Arg365His)
|
rs775991013
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1099+16C>T
|
rs777024482
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1099+8C>T
|
rs555823368
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1099+9C>T
|
rs1057523772
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1100-13G>A
|
rs762047198
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1100-7T>C
|
rs376603720
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1135A>C (p.Asn379His)
|
rs758017301
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1161C>T (p.Cys387=)
|
rs761176244
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1185G>A (p.Lys395=)
|
rs774399901
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1188C>G (p.Ala396=)
|
rs779573597
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1215G>A (p.Thr405=)
|
rs747864683
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1220C>T (p.Pro407Leu)
|
rs754529382
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1236C>T (p.Asp412=)
|
rs780769573
|
0.00001
|
|
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=)
|
rs1207676067
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1255+9C>T
|
rs775401272
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1275T>C (p.His425=)
|
rs1443278185
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1278G>A (p.Ala426=)
|
rs781782610
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1293C>T (p.Asn431=)
|
rs372751855
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1296G>T (p.Thr432=)
|
rs747450858
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1335G>A (p.Thr445=)
|
rs564566136
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1356C>T (p.Asp452=)
|
rs767527946
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1369G>A (p.Val457Ile)
|
rs573153379
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=)
|
rs368963607
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1392C>T (p.Asp464=)
|
rs748499336
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=)
|
rs1405995623
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1441+12G>A
|
rs759506343
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1442-7C>T
|
rs1410661374
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1462G>A (p.Glu488Lys)
|
rs753661188
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1476C>T (p.Asp492=)
|
rs749990260
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1512C>A (p.Arg504=)
|
rs763271019
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1555+17C>A
|
rs760877301
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1555+9C>T
|
rs764637985
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1556-15C>T
|
rs769589921
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1581C>T (p.Tyr527=)
|
rs1299929890
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1641C>G (p.Pro547=)
|
rs759501071
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1644C>T (p.Asn548=)
|
rs776488663
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1669+12C>T
|
rs780649182
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1670-7G>T
|
rs1242028632
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1676C>T (p.Thr559Met)
|
rs376055493
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1683G>A (p.Thr561=)
|
rs766351093
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1701C>T (p.Ile567=)
|
rs773932034
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1710C>T (p.Cys570=)
|
rs762590262
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1716C>T (p.Pro572=)
|
rs746366255
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1761C>T (p.Phe587=)
|
rs1176092277
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1788G>A (p.Thr596=)
|
rs925293836
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=)
|
rs781029850
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1838G>A (p.Arg613His)
|
rs369522885
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1842C>T (p.His614=)
|
rs375349485
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1843G>A (p.Gly615Arg)
|
rs764942073
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1904-4T>C
|
rs552137707
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1904-7C>T
|
rs771097212
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1924C>G (p.Leu642Val)
|
rs755740633
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=)
|
rs527323201
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=)
|
rs766577980
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1986C>T (p.Tyr662=)
|
rs749156185
|
0.00001
|
|
NM_017617.5(NOTCH1):c.1987G>A (p.Glu663Lys)
|
rs548000491
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2015-14C>T
|
rs149013721
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2015-8G>T
|
rs1272176843
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2047G>A (p.Ala683Thr)
|
rs756434709
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2115C>T (p.Pro705=)
|
rs777838108
|
0.00001
|
|
NM_017617.5(NOTCH1):c.211G>A (p.Ala71Thr)
|
rs753106233
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2127C>T (p.His709=)
|
rs755898711
|
0.00001
|
|
NM_017617.5(NOTCH1):c.213C>T (p.Ala71=)
|
rs765437443
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=)
|
rs770313470
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2207+9C>T
|
rs751315476
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2261A>G (p.Asn754Ser)
|
rs761072761
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2339G>A (p.Arg780Gln)
|
rs750859847
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2340G>A (p.Arg780=)
|
rs767935604
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2353+15C>T
|
rs773271446
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2464A>G (p.Thr822Ala)
|
rs1245057191
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2468-4G>A
|
rs752696927
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2497T>A (p.Cys833Ser)
|
rs775954717
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2501C>T (p.Ala834Val)
|
rs202144877
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2588-15C>T
|
rs757061203
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2611A>G (p.Asn871Asp)
|
rs200235006
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2631G>A (p.Pro877=)
|
rs777573424
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2643C>T (p.Gly881=)
|
rs750777328
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2675G>A (p.Arg892His)
|
rs199506721
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2692G>A (p.Gly898Ser)
|
rs748777783
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2704C>T (p.Arg902Cys)
|
rs1448345366
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2712C>T (p.Cys904=)
|
rs369645726
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2741-13C>T
|
rs545249713
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2741-9C>A
|
rs758820499
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2745G>A (p.Pro915=)
|
rs766331471
|
0.00001
|
|
NM_017617.5(NOTCH1):c.27C>G (p.Leu9=)
|
rs1422526202
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2806G>A (p.Gly936Ser)
|
rs773847667
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2820T>A (p.Thr940=)
|
rs199912866
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2823C>T (p.Phe941=)
|
rs749408618
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2869G>A (p.Gly957Arg)
|
rs773902766
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=)
|
rs754724517
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2970-15C>G
|
rs749173624
|
0.00001
|
|
NM_017617.5(NOTCH1):c.2983G>A (p.Gly995Ser)
|
rs868369610
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3015C>T (p.Phe1005=)
|
rs991348745
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3033C>T (p.Pro1011=)
|
rs941714067
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3034G>A (p.Gly1012Ser)
|
rs776957107
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3061G>A (p.Asp1021Asn)
|
rs760908627
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3068A>G (p.Asn1023Ser)
|
rs937138982
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3075C>T (p.Cys1025=)
|
rs764208271
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3100G>A (p.Gly1034Ser)
|
rs981281975
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3120C>T (p.Cys1040=)
|
rs1189026962
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3141C>T (p.Cys1047=)
|
rs1221606038
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3172-7T>C
|
rs370144650
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3190G>A (p.Asp1064Asn)
|
rs375931404
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3213C>T (p.Gly1071=)
|
rs528993886
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3231C>T (p.Thr1077=)
|
rs781656729
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3261C>T (p.Ser1087=)
|
rs543586029
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3285C>T (p.Asp1095=)
|
rs770364830
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3326-5C>T
|
rs765346348
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3350A>G (p.Gln1117Arg)
|
rs764816819
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3387C>T (p.His1129=)
|
rs1843117451
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3404C>T (p.Ala1135Val)
|
rs370300490
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3408C>G (p.Gly1136=)
|
rs1171001832
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3441C>T (p.Asp1147=)
|
rs377488165
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3469G>A (p.Gly1157Arg)
|
rs549630973
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3482C>T (p.Thr1161Met)
|
rs769903954
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3495C>T (p.Gly1165=)
|
rs778909557
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3514G>A (p.Val1172Met)
|
rs1234358553
|
0.00001
|
|
NM_017617.5(NOTCH1):c.351C>T (p.Cys117=)
|
rs768642611
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3555C>T (p.Asp1185=)
|
rs530064649
|
0.00001
|
|
NM_017617.5(NOTCH1):c.355C>T (p.Leu119=)
|
rs1458520239
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3570C>A (p.His1190Gln)
|
rs769619561
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3582C>T (p.Asn1194=)
|
rs746547529
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3598G>A (p.Asp1200Asn)
|
rs544640305
|
0.00001
|
|
NM_017617.5(NOTCH1):c.360C>T (p.Leu120=)
|
rs541839947
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3643+10G>A
|
rs1159458812
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3643+13G>C
|
rs759356560
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3643+9C>T
|
rs764985096
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3663C>T (p.Asn1221=)
|
rs780527525
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3669C>T (p.Asp1223=)
|
rs781546439
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3684C>T (p.Pro1228=)
|
rs753711100
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3693C>T (p.Pro1231=)
|
rs1330174392
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3723C>T (p.Asn1241=)
|
rs369637862
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3862G>A (p.Val1288Ile)
|
rs752264096
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3874C>T (p.His1292Tyr)
|
rs372348365
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3908G>A (p.Arg1303His)
|
rs768775024
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3960C>T (p.Gly1320=)
|
rs1843089049
|
0.00001
|
|
NM_017617.5(NOTCH1):c.3991G>A (p.Gly1331Arg)
|
rs769908800
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4014+8C>G
|
rs748956877
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4066C>T (p.Arg1356Cys)
|
rs587778567
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4074C>T (p.Leu1358=)
|
rs762830852
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4080C>T (p.Gly1360=)
|
rs745455844
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4086A>G (p.Thr1362=)
|
rs1394594896
|
0.00001
|
|
NM_017617.5(NOTCH1):c.408A>G (p.Lys136=)
|
rs769259782
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4100C>T (p.Pro1367Leu)
|
rs758787267
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4128C>T (p.Gly1376=)
|
rs1292953898
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4136C>T (p.Thr1379Met)
|
rs764123906
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4158G>A (p.Pro1386=)
|
rs760205847
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4197C>T (p.Asn1399=)
|
rs989398598
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4263C>T (p.Asn1421=)
|
rs547687521
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4271T>C (p.Leu1424Ser)
|
rs954507677
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4272G>A (p.Leu1424=)
|
rs1352111936
|
0.00001
|
|
NM_017617.5(NOTCH1):c.429G>A (p.Pro143=)
|
rs757406877
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4336G>A (p.Glu1446Lys)
|
rs1198437870
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4357G>A (p.Glu1453Lys)
|
rs746144524
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4374G>A (p.Ala1458=)
|
rs777768691
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4410C>T (p.His1470=)
|
rs750183248
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4413G>A (p.Ala1471=)
|
rs756867304
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4425C>T (p.Asp1475=)
|
rs371948072
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4428C>T (p.Gly1476=)
|
rs765751888
|
0.00001
|
|
NM_017617.5(NOTCH1):c.447C>T (p.Cys149=)
|
rs1042034779
|
0.00001
|
|
NM_017617.5(NOTCH1):c.453C>T (p.Asn151=)
|
rs368733465
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4564C>G (p.Gln1522Glu)
|
rs537085062
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4587-9C>T
|
rs1390687627
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4655C>T (p.Ala1552Val)
|
rs748862853
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4662C>T (p.Cys1554=)
|
rs756662728
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4663G>A (p.Glu1555Lys)
|
rs746342893
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4709C>T (p.Ala1570Val)
|
rs199860726
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4710G>A (p.Ala1570=)
|
rs773978978
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4719G>A (p.Thr1573=)
|
rs775105774
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4743G>A (p.Pro1581=)
|
rs781672648
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4776C>T (p.Phe1592=)
|
rs752861485
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4810G>A (p.Val1604Met)
|
rs763765573
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4830A>G (p.Ala1610=)
|
rs1322054624
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4880G>A (p.Arg1627His)
|
rs946083212
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4919C>T (p.Ala1640Val)
|
rs1183355532
|
0.00001
|
|
NM_017617.5(NOTCH1):c.4959C>G (p.Leu1653=)
|
rs773609261
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5019-7C>T
|
rs778742802
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5049G>A (p.Arg1683=)
|
rs749951491
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5092G>A (p.Asp1698Asn)
|
rs1417478070
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5160C>T (p.Ala1720=)
|
rs780625273
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5168-15C>T
|
rs1422578873
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5168-5C>T
|
rs757370134
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5184G>A (p.Pro1728=)
|
rs760548371
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5187C>T (p.Pro1729=)
|
rs1391812990
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5247C>T (p.Phe1749=)
|
rs762483384
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5271C>T (p.Ser1757=)
|
rs747336695
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5282G>A (p.Arg1761Gln)
|
rs750318685
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5365G>A (p.Glu1789Lys)
|
rs1198855127
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5374G>A (p.Val1792Met)
|
rs771399165
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5384+11G>A
|
rs1340470620
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5385-13C>T
|
rs1045447812
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5397C>T (p.Asn1799=)
|
rs761147379
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5406C>T (p.Asp1802=)
|
rs768810954
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5413C>T (p.Leu1805Phe)
|
rs775497405
|
0.00001
|
|
NM_017617.5(NOTCH1):c.541G>A (p.Glu181Lys)
|
rs780209394
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5460C>T (p.Thr1820=)
|
rs1176961989
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5472+10G>A
|
rs1484527670
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5472+13G>C
|
rs774075034
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5472+18C>T
|
rs199812169
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5472+8G>A
|
rs776640246
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5473-10C>T
|
rs1226558286
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5473-8C>G
|
rs1353579181
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5484C>T (p.Pro1828=)
|
rs1381340038
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5495C>G (p.Pro1832Arg)
|
rs1425070721
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5505C>T (p.Asp1835=)
|
rs760776152
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5560C>T (p.Arg1854Cys)
|
rs376689092
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5608G>A (p.Asp1870Asn)
|
rs1313068805
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5619C>T (p.Asp1873=)
|
rs770755811
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5652G>A (p.Pro1884=)
|
rs766279504
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5790C>T (p.Thr1930=)
|
rs772372556
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5793C>A (p.Ala1931=)
|
rs569844183
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=)
|
rs774693459
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5945G>A (p.Arg1982Gln)
|
rs763052700
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5971C>T (p.Arg1991Cys)
|
rs759553984
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5981A>G (p.Asp1994Gly)
|
rs1454512890
|
0.00001
|
|
NM_017617.5(NOTCH1):c.5991G>A (p.Thr1997=)
|
rs577642121
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6013C>T (p.Leu2005=)
|
rs557773323
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6058G>A (p.Asp2020Asn)
|
rs752928106
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6084C>G (p.Gly2028=)
|
rs1060504524
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6091G>A (p.Ala2031Thr)
|
rs932710972
|
0.00001
|
|
NM_017617.5(NOTCH1):c.61+11A>G
|
rs1400816809
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6111C>T (p.Ala2037=)
|
rs749488166
|
0.00001
|
|
NM_017617.5(NOTCH1):c.612C>T (p.Cys204=)
|
rs1208829487
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6131C>T (p.Ala2044Val)
|
rs1085307562
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6156T>A (p.Ala2052=)
|
rs768912472
|
0.00001
|
|
NM_017617.5(NOTCH1):c.62-9C>T
|
rs368106834
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6204C>T (p.Ala2068=)
|
rs767118276
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6223G>A (p.Glu2075Lys)
|
rs549258808
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6227C>T (p.Thr2076Ile)
|
rs1022510242
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6237G>A (p.Val2079=)
|
rs1246059704
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6259C>T (p.Arg2087Trp)
|
rs373806373
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6350A>C (p.Asn2117Thr)
|
rs765820020
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6401C>T (p.Thr2134Ile)
|
rs1249825304
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6408G>A (p.Ser2136=)
|
rs933773128
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6413C>T (p.Pro2138Leu)
|
rs756571156
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6414G>A (p.Pro2138=)
|
rs750732295
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6422C>T (p.Ser2141Leu)
|
rs767822693
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=)
|
rs377302245
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6475C>T (p.Arg2159Cys)
|
rs371742334
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6536G>C (p.Arg2179Pro)
|
rs587778571
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6542A>G (p.Lys2181Arg)
|
rs746372139
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6564C>A (p.Gly2188=)
|
rs747353119
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=)
|
rs200853719
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6645G>A (p.Ser2215=)
|
rs745339419
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6756G>A (p.Lys2252=)
|
rs1842926814
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6759C>T (p.Pro2253=)
|
rs770738954
|
0.00001
|
|
NM_017617.5(NOTCH1):c.675G>A (p.Ser225=)
|
rs1334701310
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6768G>A (p.Ala2256=)
|
rs575575412
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6769G>A (p.Ala2257Thr)
|
rs587778572
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6781G>T (p.Gly2261Cys)
|
rs768817065
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6787C>T (p.Arg2263Trp)
|
rs770022692
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=)
|
rs1367699274
|
0.00001
|
|
NM_017617.5(NOTCH1):c.678C>G (p.Pro226=)
|
rs950648628
|
0.00001
|
|
NM_017617.5(NOTCH1):c.687C>T (p.Asn229=)
|
rs535217359
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6889A>G (p.Thr2297Ala)
|
rs748988550
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6895G>A (p.Gly2299Ser)
|
rs1020747496
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6915T>C (p.Asn2305=)
|
rs1223420495
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6969C>T (p.Tyr2323=)
|
rs755844275
|
0.00001
|
|
NM_017617.5(NOTCH1):c.6976C>T (p.Leu2326=)
|
rs756811995
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=)
|
rs775336930
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7075C>T (p.Leu2359=)
|
rs374362224
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7104G>A (p.Leu2368=)
|
rs779525805
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7114C>T (p.Arg2372Trp)
|
rs754234580
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7128G>T (p.Gln2376His)
|
rs369935287
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7134C>T (p.His2378=)
|
rs775424890
|
0.00001
|
|
NM_017617.5(NOTCH1):c.714C>T (p.Asp238=)
|
rs532058137
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7150C>G (p.Gln2384Glu)
|
rs375119074
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7161A>T (p.Pro2387=)
|
rs1413339098
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=)
|
rs374789141
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7315A>C (p.Ser2439Arg)
|
rs942055234
|
0.00001
|
|
NM_017617.5(NOTCH1):c.743-17G>A
|
rs759467563
|
0.00001
|
|
NM_017617.5(NOTCH1):c.743-6C>T
|
rs200395304
|
0.00001
|
|
NM_017617.5(NOTCH1):c.751G>A (p.Gly251Ser)
|
rs755667439
|
0.00001
|
|
NM_017617.5(NOTCH1):c.752G>A (p.Gly251Asp)
|
rs749943647
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7539C>T (p.Ser2513=)
|
rs758931699
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7554C>T (p.Asp2518=)
|
rs771410115
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7584C>T (p.Asn2528=)
|
rs778937268
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7590C>T (p.Ser2530=)
|
rs371067732
|
0.00001
|
|
NM_017617.5(NOTCH1):c.7667A>G (p.Ter2556=)
|
rs190691338
|
0.00001
|
|
NM_017617.5(NOTCH1):c.822C>T (p.Asp274=)
|
rs775275739
|
0.00001
|
|
NM_017617.5(NOTCH1):c.865+19G>A
|
rs775120395
|
0.00001
|
|
NM_017617.5(NOTCH1):c.866-7C>T
|
rs368001435
|
0.00001
|
|
NM_017617.5(NOTCH1):c.949G>A (p.Gly317Ser)
|
rs749696049
|
0.00001
|
|
NM_017617.5(NOTCH1):c.94C>T (p.Leu32=)
|
rs367858719
|
0.00001
|
|
NM_018062.4(FANCL):c.1033C>T (p.Leu345=)
|
rs929280865
|
0.00001
|
|
NM_018062.4(FANCL):c.1092+18C>A
|
rs373854636
|
0.00001
|
|
NM_018062.4(FANCL):c.1092+8A>G
|
rs1337458150
|
0.00001
|
|
NM_018062.4(FANCL):c.1093-19_1093-9dup
|
rs771654902
|
0.00001
|
|
NM_018062.4(FANCL):c.1093-34_1093-16del
|
rs760337641
|
0.00001
|
|
NM_018062.4(FANCL):c.117G>A (p.Arg39=)
|
rs774840155
|
0.00001
|
|
NM_018062.4(FANCL):c.129T>G (p.Pro43=)
|
rs746046267
|
0.00001
|
|
NM_018062.4(FANCL):c.18G>C (p.Ala6=)
|
rs759021953
|
0.00001
|
|
NM_018062.4(FANCL):c.36C>T (p.Cys12=)
|
rs756487177
|
0.00001
|
|
NM_018062.4(FANCL):c.381G>T (p.Val127=)
|
rs1198509820
|
0.00001
|
|
NM_018062.4(FANCL):c.39C>T (p.Pro13=)
|
rs201708705
|
0.00001
|
|
NM_018062.4(FANCL):c.471+11C>T
|
rs373493158
|
0.00001
|
|
NM_018062.4(FANCL):c.525C>T (p.Ala175=)
|
rs757892335
|
0.00001
|
|
NM_018062.4(FANCL):c.588A>T (p.Ser196=)
|
rs1205526780
|
0.00001
|
|
NM_018062.4(FANCL):c.589C>T (p.Leu197=)
|
rs779745877
|
0.00001
|
|
NM_018062.4(FANCL):c.621C>T (p.Ile207=)
|
rs374195602
|
0.00001
|
|
NM_018062.4(FANCL):c.692-17A>G
|
rs1281803537
|
0.00001
|
|
NM_018062.4(FANCL):c.6G>A (p.Ala2=)
|
rs781559042
|
0.00001
|
|
NM_018062.4(FANCL):c.750G>A (p.Glu250=)
|
rs1337676826
|
0.00001
|
|
NM_018062.4(FANCL):c.804C>T (p.Ser268=)
|
rs1327227877
|
0.00001
|
|
NM_018062.4(FANCL):c.822-15T>C
|
rs1282819073
|
0.00001
|
|
NM_018062.4(FANCL):c.879A>T (p.Pro293=)
|
rs1217731968
|
0.00001
|
|
NM_018062.4(FANCL):c.894G>T (p.Leu298=)
|
rs373364584
|
0.00001
|
|
NM_018062.4(FANCL):c.903+10A>G
|
rs779834767
|
0.00001
|
|
NM_018062.4(FANCL):c.918T>C (p.Asp306=)
|
rs1060504376
|
0.00001
|
|
NM_018062.4(FANCL):c.96+10C>T
|
rs184741617
|
0.00001
|
|
NM_018062.4(FANCL):c.993A>G (p.Gln331=)
|
rs777378352
|
0.00001
|
|
NM_018486.3(HDAC8):c.1052G>C (p.Ser351Thr)
|
rs782558250
|
0.00001
|
|
NM_018486.3(HDAC8):c.135T>C (p.Ile45=)
|
rs1556159779
|
0.00001
|
|
NM_018486.3(HDAC8):c.342T>C (p.Ala114=)
|
rs1324464792
|
0.00001
|
|
NM_020436.5(SALL4):c.130+6dup
|
rs750625183
|
0.00001
|
|
NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg)
|
rs113920122
|
0.00001
|
|
NM_020436.5(SALL4):c.732C>T (p.Ser244=)
|
rs567647391
|
0.00001
|
|
NM_020937.4(FANCM):c.1035A>G (p.Pro345=)
|
rs779231612
|
0.00001
|
|
NM_020937.4(FANCM):c.105T>C (p.Pro35=)
|
rs1190089439
|
0.00001
|
|
NM_020937.4(FANCM):c.1071C>T (p.Ile357=)
|
rs780333012
|
0.00001
|
|
NM_020937.4(FANCM):c.111C>T (p.Ser37=)
|
rs763486658
|
0.00001
|
|
NM_020937.4(FANCM):c.1143A>G (p.Ser381=)
|
rs750921743
|
0.00001
|
|
NM_020937.4(FANCM):c.114C>G (p.Ser38=)
|
rs761652077
|
0.00001
|
|
NM_020937.4(FANCM):c.117G>A (p.Lys39=)
|
rs765275634
|
0.00001
|
|
NM_020937.4(FANCM):c.1184-20C>A
|
rs763504552
|
0.00001
|
|
NM_020937.4(FANCM):c.1251G>A (p.Glu417=)
|
rs1238085525
|
0.00001
|
|
NM_020937.4(FANCM):c.1397-20G>A
|
rs767201661
|
0.00001
|
|
NM_020937.4(FANCM):c.1527C>T (p.Val509=)
|
rs1199608395
|
0.00001
|
|
NM_020937.4(FANCM):c.1530C>T (p.Gly510=)
|
rs367951081
|
0.00001
|
|
NM_020937.4(FANCM):c.1563C>G (p.Thr521=)
|
rs775472302
|
0.00001
|
|
NM_020937.4(FANCM):c.1581+17T>C
|
rs1276397814
|
0.00001
|
|
NM_020937.4(FANCM):c.15A>G (p.Gln5=)
|
rs374315790
|
0.00001
|
|
NM_020937.4(FANCM):c.1788+10G>C
|
rs1203353298
|
0.00001
|
|
NM_020937.4(FANCM):c.1789-14A>G
|
rs980289508
|
0.00001
|
|
NM_020937.4(FANCM):c.1845C>T (p.Asn615=)
|
rs770287146
|
0.00001
|
|
NM_020937.4(FANCM):c.1941T>C (p.Tyr647=)
|
rs1280545288
|
0.00001
|
|
NM_020937.4(FANCM):c.1959T>C (p.Ser653=)
|
rs760000633
|
0.00001
|
|
NM_020937.4(FANCM):c.1974A>C (p.Arg658=)
|
rs1888039482
|
0.00001
|
|
NM_020937.4(FANCM):c.2002+19T>C
|
rs748316001
|
0.00001
|
|
NM_020937.4(FANCM):c.2003-16T>C
|
rs750329568
|
0.00001
|
|
NM_020937.4(FANCM):c.2003-7C>T
|
rs758398053
|
0.00001
|
|
NM_020937.4(FANCM):c.2073T>G (p.Leu691=)
|
rs534278963
|
0.00001
|
|
NM_020937.4(FANCM):c.2079A>G (p.Arg693=)
|
rs747434711
|
0.00001
|
|
NM_020937.4(FANCM):c.2163T>G (p.Ala721=)
|
rs781479852
|
0.00001
|
|
NM_020937.4(FANCM):c.2316+12T>C
|
rs764384464
|
0.00001
|
|
NM_020937.4(FANCM):c.2317-5T>C
|
rs370111392
|
0.00001
|
|
NM_020937.4(FANCM):c.2406T>C (p.Asn802=)
|
rs1231624693
|
0.00001
|
|
NM_020937.4(FANCM):c.244C>T (p.Leu82=)
|
rs746349291
|
0.00001
|
|
NM_020937.4(FANCM):c.246G>A (p.Leu82=)
|
rs1885493418
|
0.00001
|
|
NM_020937.4(FANCM):c.2595G>A (p.Gln865=)
|
rs1280478322
|
0.00001
|
|
NM_020937.4(FANCM):c.2616C>T (p.His872=)
|
rs372803974
|
0.00001
|
|
NM_020937.4(FANCM):c.2700A>G (p.Thr900=)
|
rs1594798013
|
0.00001
|
|
NM_020937.4(FANCM):c.2715A>G (p.Glu905=)
|
rs1230956702
|
0.00001
|
|
NM_020937.4(FANCM):c.2721T>G (p.Ala907=)
|
rs150172333
|
0.00001
|
|
NM_020937.4(FANCM):c.2745T>C (p.Asn915=)
|
rs915093857
|
0.00001
|
|
NM_020937.4(FANCM):c.2799C>T (p.Ser933=)
|
rs1292603050
|
0.00001
|
|
NM_020937.4(FANCM):c.2856A>G (p.Glu952=)
|
rs1366592524
|
0.00001
|
|
NM_020937.4(FANCM):c.286C>T (p.Leu96=)
|
rs1412746996
|
0.00001
|
|
NM_020937.4(FANCM):c.2898G>A (p.Glu966=)
|
rs146050453
|
0.00001
|
|
NM_020937.4(FANCM):c.2937T>C (p.Cys979=)
|
rs1188507113
|
0.00001
|
|
NM_020937.4(FANCM):c.2988T>C (p.Tyr996=)
|
rs373971974
|
0.00001
|
|
NM_020937.4(FANCM):c.3003C>T (p.Leu1001=)
|
rs1177034125
|
0.00001
|
|
NM_020937.4(FANCM):c.3048A>C (p.Ala1016=)
|
rs1024727528
|
0.00001
|
|
NM_020937.4(FANCM):c.3081G>A (p.Glu1027=)
|
rs770803476
|
0.00001
|
|
NM_020937.4(FANCM):c.3150A>G (p.Glu1050=)
|
rs1311277085
|
0.00001
|
|
NM_020937.4(FANCM):c.315C>T (p.Cys105=)
|
rs371888194
|
0.00001
|
|
NM_020937.4(FANCM):c.3276A>G (p.Glu1092=)
|
rs1042757360
|
0.00001
|
|
NM_020937.4(FANCM):c.3417T>C (p.Asp1139=)
|
rs759993342
|
0.00001
|
|
NM_020937.4(FANCM):c.3435C>T (p.Asp1145=)
|
rs760913813
|
0.00001
|
|
NM_020937.4(FANCM):c.343C>T (p.Leu115=)
|
rs1200564694
|
0.00001
|
|
NM_020937.4(FANCM):c.3441G>A (p.Val1147=)
|
rs371637649
|
0.00001
|
|
NM_020937.4(FANCM):c.3510G>A (p.Thr1170=)
|
rs749416896
|
0.00001
|
|
NM_020937.4(FANCM):c.366C>G (p.Ala122=)
|
rs770311755
|
0.00001
|
|
NM_020937.4(FANCM):c.3705A>G (p.Gly1235=)
|
rs755896402
|
0.00001
|
|
NM_020937.4(FANCM):c.3828G>A (p.Ser1276=)
|
rs755082451
|
0.00001
|
|
NM_020937.4(FANCM):c.3837A>G (p.Ala1279=)
|
rs188061266
|
0.00001
|
|
NM_020937.4(FANCM):c.3888C>A (p.Ile1296=)
|
rs764040527
|
0.00001
|
|
NM_020937.4(FANCM):c.3921T>C (p.Tyr1307=)
|
rs764339843
|
0.00001
|
|
NM_020937.4(FANCM):c.3960G>A (p.Leu1320=)
|
rs745456931
|
0.00001
|
|
NM_020937.4(FANCM):c.4047A>G (p.Ser1349=)
|
rs772889740
|
0.00001
|
|
NM_020937.4(FANCM):c.4245C>T (p.Asn1415=)
|
rs368936983
|
0.00001
|
|
NM_020937.4(FANCM):c.4311T>C (p.Ser1437=)
|
rs1017827085
|
0.00001
|
|
NM_020937.4(FANCM):c.4359C>G (p.Val1453=)
|
rs779903070
|
0.00001
|
|
NM_020937.4(FANCM):c.4387-12G>T
|
rs776419214
|
0.00001
|
|
NM_020937.4(FANCM):c.4395A>G (p.Leu1465=)
|
rs749970691
|
0.00001
|
|
NM_020937.4(FANCM):c.4437A>C (p.Ser1479=)
|
rs1889215260
|
0.00001
|
|
NM_020937.4(FANCM):c.4449C>T (p.Asp1483=)
|
rs1889215868
|
0.00001
|
|
NM_020937.4(FANCM):c.4464C>T (p.Asn1488=)
|
rs376583120
|
0.00001
|
|
NM_020937.4(FANCM):c.4536A>G (p.Leu1512=)
|
rs1340500564
|
0.00001
|
|
NM_020937.4(FANCM):c.4542T>C (p.Asp1514=)
|
rs372272824
|
0.00001
|
|
NM_020937.4(FANCM):c.4575T>C (p.Tyr1525=)
|
rs756538862
|
0.00001
|
|
NM_020937.4(FANCM):c.4599G>A (p.Glu1533=)
|
rs770525500
|
0.00001
|
|
NM_020937.4(FANCM):c.4624T>C (p.Leu1542=)
|
rs1394104664
|
0.00001
|
|
NM_020937.4(FANCM):c.4674T>C (p.Asp1558=)
|
rs1264214406
|
0.00001
|
|
NM_020937.4(FANCM):c.4731G>A (p.Lys1577=)
|
rs769405541
|
0.00001
|
|
NM_020937.4(FANCM):c.4860A>G (p.Glu1620=)
|
rs776303176
|
0.00001
|
|
NM_020937.4(FANCM):c.4908A>G (p.Ala1636=)
|
rs1457220401
|
0.00001
|
|
NM_020937.4(FANCM):c.5046T>C (p.Asp1682=)
|
rs1302536129
|
0.00001
|
|
NM_020937.4(FANCM):c.509-13C>T
|
rs1383624464
|
0.00001
|
|
NM_020937.4(FANCM):c.5094C>T (p.Asn1698=)
|
rs1042174034
|
0.00001
|
|
NM_020937.4(FANCM):c.5103G>A (p.Gln1701=)
|
rs1160184503
|
0.00001
|
|
NM_020937.4(FANCM):c.5127T>C (p.Pro1709=)
|
rs1157235486
|
0.00001
|
|
NM_020937.4(FANCM):c.5154G>A (p.Val1718=)
|
rs775219071
|
0.00001
|
|
NM_020937.4(FANCM):c.5229C>T (p.Ser1743=)
|
rs1298918449
|
0.00001
|
|
NM_020937.4(FANCM):c.5271G>A (p.Gln1757=)
|
rs1193398969
|
0.00001
|
|
NM_020937.4(FANCM):c.5400A>G (p.Pro1800=)
|
rs1220530493
|
0.00001
|
|
NM_020937.4(FANCM):c.5509C>T (p.Leu1837=)
|
rs1890055603
|
0.00001
|
|
NM_020937.4(FANCM):c.5568C>T (p.Ile1856=)
|
rs771670832
|
0.00001
|
|
NM_020937.4(FANCM):c.5661G>A (p.Leu1887=)
|
rs754173937
|
0.00001
|
|
NM_020937.4(FANCM):c.5716+12T>G
|
rs1890072677
|
0.00001
|
|
NM_020937.4(FANCM):c.5717-4T>A
|
rs781258517
|
0.00001
|
|
NM_020937.4(FANCM):c.5754T>C (p.Tyr1918=)
|
rs772310452
|
0.00001
|
|
NM_020937.4(FANCM):c.5859A>G (p.Gln1953=)
|
rs1162450469
|
0.00001
|
|
NM_020937.4(FANCM):c.6009-18G>T
|
rs774599483
|
0.00001
|
|
NM_020937.4(FANCM):c.6075T>C (p.Tyr2025=)
|
rs180764458
|
0.00001
|
|
NM_020937.4(FANCM):c.682-7T>C
|
rs1012042292
|
0.00001
|
|
NM_020937.4(FANCM):c.693A>G (p.Glu231=)
|
rs146597866
|
0.00001
|
|
NM_020937.4(FANCM):c.6C>T (p.Ser2=)
|
rs1215540624
|
0.00001
|
|
NM_020937.4(FANCM):c.717T>C (p.Phe239=)
|
rs1365220972
|
0.00001
|
|
NM_020937.4(FANCM):c.768A>G (p.Gln256=)
|
rs1886616759
|
0.00001
|
|
NM_020937.4(FANCM):c.882T>G (p.Gly294=)
|
rs1298378119
|
0.00001
|
|
NM_020937.4(FANCM):c.975T>C (p.Asp325=)
|
rs765094256
|
0.00001
|
|
NM_021922.3(FANCE):c.1017C>T (p.Leu339=)
|
rs1277513595
|
0.00001
|
|
NM_021922.3(FANCE):c.1053T>G (p.Leu351=)
|
rs755165473
|
0.00001
|
|
NM_021922.3(FANCE):c.1221C>T (p.Leu407=)
|
rs752130850
|
0.00001
|
|
NM_021922.3(FANCE):c.1237+20C>G
|
rs755688409
|
0.00001
|
|
NM_021922.3(FANCE):c.1384-14C>T
|
rs558453150
|
0.00001
|
|
NM_021922.3(FANCE):c.1384-5T>C
|
rs777064305
|
0.00001
|
|
NM_021922.3(FANCE):c.1395C>T (p.Thr465=)
|
rs770219946
|
0.00001
|
|
NM_021922.3(FANCE):c.148C>T (p.Leu50=)
|
rs1278828834
|
0.00001
|
|
NM_021922.3(FANCE):c.1512C>A (p.Ile504=)
|
rs760228323
|
0.00001
|
|
NM_021922.3(FANCE):c.1525A>C (p.Arg509=)
|
rs1293230097
|
0.00001
|
|
NM_021922.3(FANCE):c.1581G>A (p.Leu527=)
|
rs757384407
|
0.00001
|
|
NM_021922.3(FANCE):c.15C>T (p.Asp5=)
|
rs1298974698
|
0.00001
|
|
NM_021922.3(FANCE):c.216G>T (p.Pro72=)
|
rs886061328
|
0.00001
|
|
NM_021922.3(FANCE):c.324G>A (p.Ser108=)
|
rs762826105
|
0.00001
|
|
NM_021922.3(FANCE):c.327G>C (p.Leu109=)
|
rs1767304773
|
0.00001
|
|
NM_021922.3(FANCE):c.330G>A (p.Pro110=)
|
rs757051494
|
0.00001
|
|
NM_021922.3(FANCE):c.466C>T (p.Leu156=)
|
rs747537380
|
0.00001
|
|
NM_021922.3(FANCE):c.480C>T (p.Cys160=)
|
rs45509302
|
0.00001
|
|
NM_021922.3(FANCE):c.495A>G (p.Gln165=)
|
rs781480072
|
0.00001
|
|
NM_021922.3(FANCE):c.501A>G (p.Leu167=)
|
rs769404523
|
0.00001
|
|
NM_021922.3(FANCE):c.540C>T (p.Ser180=)
|
rs781691272
|
0.00001
|
|
NM_021922.3(FANCE):c.621G>A (p.Glu207=)
|
rs1195525206
|
0.00001
|
|
NM_021922.3(FANCE):c.693G>A (p.Lys231=)
|
rs202207657
|
0.00001
|
|
NM_021922.3(FANCE):c.744A>G (p.Ala248=)
|
rs774688796
|
0.00001
|
|
NM_021922.3(FANCE):c.786C>T (p.Gly262=)
|
rs755421532
|
0.00001
|
|
NM_021922.3(FANCE):c.792C>T (p.Asp264=)
|
rs758132363
|
0.00001
|
|
NM_021922.3(FANCE):c.798G>A (p.Ser266=)
|
rs746542545
|
0.00001
|
|
NM_021922.3(FANCE):c.951C>T (p.His317=)
|
rs753841588
|
0.00001
|
|
NM_021922.3(FANCE):c.969+16T>G
|
rs780283194
|
0.00001
|
|
NM_021922.3(FANCE):c.970-18C>G
|
rs1376629458
|
0.00001
|
|
NM_021922.3(FANCE):c.993G>A (p.Leu331=)
|
rs1358873070
|
0.00001
|
|
NM_021922.3(FANCE):c.999C>T (p.Leu333=)
|
rs776082827
|
0.00001
|
|
NM_022725.4(FANCF):c.1026T>C (p.Pro342=)
|
rs745879868
|
0.00001
|
|
NM_022725.4(FANCF):c.13C>T (p.Leu5=)
|
rs778821124
|
0.00001
|
|
NM_022725.4(FANCF):c.201G>A (p.Arg67=)
|
rs765970178
|
0.00001
|
|
NM_022725.4(FANCF):c.210C>T (p.Gly70=)
|
rs769740744
|
0.00001
|
|
NM_022725.4(FANCF):c.22C>T (p.Leu8=)
|
rs1181623769
|
0.00001
|
|
NM_022725.4(FANCF):c.24G>C (p.Leu8=)
|
rs1035401874
|
0.00001
|
|
NM_022725.4(FANCF):c.384A>C (p.Thr128=)
|
rs200307118
|
0.00001
|
|
NM_022725.4(FANCF):c.640T>C (p.Leu214=)
|
rs773556058
|
0.00001
|
|
NM_022725.4(FANCF):c.675C>T (p.Gly225=)
|
rs767689033
|
0.00001
|
|
NM_022725.4(FANCF):c.699G>A (p.Gly233=)
|
rs1565055031
|
0.00001
|
|
NM_022725.4(FANCF):c.729G>A (p.Gly243=)
|
rs778844305
|
0.00001
|
|
NM_022725.4(FANCF):c.807G>A (p.Ala269=)
|
rs754312601
|
0.00001
|
|
NM_022725.4(FANCF):c.84C>A (p.Pro28=)
|
rs771462007
|
0.00001
|
|
NM_022725.4(FANCF):c.927T>C (p.Asn309=)
|
rs200073415
|
0.00001
|
|
NM_022725.4(FANCF):c.984C>T (p.Ala328=)
|
rs1858616188
|
0.00001
|
|
NM_022725.4(FANCF):c.993C>G (p.Thr331=)
|
rs751274756
|
0.00001
|
|
NM_023110.3(FGFR1):c.1179G>A (p.Ser393=)
|
rs374674165
|
0.00001
|
|
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=)
|
rs756104594
|
0.00001
|
|
NM_023110.3(FGFR1):c.1430+13T>C
|
rs763815221
|
0.00001
|
|
NM_023110.3(FGFR1):c.1430+9A>G
|
rs371390925
|
0.00001
|
|
NM_023110.3(FGFR1):c.1449C>T (p.Pro483=)
|
rs755702592
|
0.00001
|
|
NM_023110.3(FGFR1):c.1476G>A (p.Val492=)
|
rs1817294749
|
0.00001
|
|
NM_023110.3(FGFR1):c.1869C>T (p.Asp623=)
|
rs780009859
|
0.00001
|
|
NM_023110.3(FGFR1):c.1977+18C>T
|
rs201805975
|
0.00001
|
|
NM_023110.3(FGFR1):c.1977+9C>T
|
rs372632166
|
0.00001
|
|
NM_023110.3(FGFR1):c.1978-13G>A
|
rs761708658
|
0.00001
|
|
NM_023110.3(FGFR1):c.1978-16C>T
|
rs764971696
|
0.00001
|
|
NM_023110.3(FGFR1):c.2048+18A>G
|
rs1340003441
|
0.00001
|
|
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=)
|
rs1193961883
|
0.00001
|
|
NM_023110.3(FGFR1):c.2181C>T (p.Asn727=)
|
rs767613285
|
0.00001
|
|
NM_023110.3(FGFR1):c.2186+18T>G
|
rs764343061
|
0.00001
|
|
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=)
|
rs369782405
|
0.00001
|
|
NM_023110.3(FGFR1):c.2451C>T (p.Gly817=)
|
rs1014179319
|
0.00001
|
|
NM_023110.3(FGFR1):c.279C>T (p.Pro93=)
|
rs781034707
|
0.00001
|
|
NM_023110.3(FGFR1):c.359-9T>C
|
rs770811938
|
0.00001
|
|
NM_023110.3(FGFR1):c.386A>C (p.Asp129Ala)
|
rs765615419
|
0.00001
|
|
NM_023110.3(FGFR1):c.39G>A (p.Leu13=)
|
rs760206071
|
0.00001
|
|
NM_023110.3(FGFR1):c.405T>C (p.Ser135=)
|
rs374139613
|
0.00001
|
|
NM_023110.3(FGFR1):c.450C>T (p.Pro150=)
|
rs766091702
|
0.00001
|
|
NM_023110.3(FGFR1):c.615C>T (p.Gly205=)
|
rs781689191
|
0.00001
|
|
NM_023110.3(FGFR1):c.648A>C (p.Ile216=)
|
rs756132460
|
0.00001
|
|
NM_023110.3(FGFR1):c.663G>T (p.Val221=)
|
rs766451294
|
0.00001
|
|
NM_023110.3(FGFR1):c.708C>T (p.Tyr236=)
|
rs373644620
|
0.00001
|
|
NM_023110.3(FGFR1):c.786C>T (p.Pro262=)
|
rs769599671
|
0.00001
|
|
NM_023110.3(FGFR1):c.891G>A (p.Gly297=)
|
rs774652525
|
0.00001
|
|
NM_023110.3(FGFR1):c.937-10T>C
|
rs757823303
|
0.00001
|
|
NM_032043.2(BRIP1):c.2097+8A>C
|
rs730881642
|
0.00001
|
|
NM_032043.3(BRIP1):c.1023C>T (p.Val341=)
|
rs957014406
|
0.00001
|
|
NM_032043.3(BRIP1):c.1059C>T (p.Tyr353=)
|
rs864622375
|
0.00001
|
|
NM_032043.3(BRIP1):c.1065C>G (p.Ala355=)
|
rs1222801209
|
0.00001
|
|
NM_032043.3(BRIP1):c.1071A>G (p.Glu357=)
|
rs761017296
|
0.00001
|
|
NM_032043.3(BRIP1):c.1074A>C (p.Leu358=)
|
rs771682192
|
0.00001
|
|
NM_032043.3(BRIP1):c.1117C>T (p.Leu373=)
|
rs755992778
|
0.00001
|
|
NM_032043.3(BRIP1):c.1141-4A>G
|
rs1226658018
|
0.00001
|
|
NM_032043.3(BRIP1):c.1152T>C (p.Asn384=)
|
rs1055794932
|
0.00001
|
|
NM_032043.3(BRIP1):c.1194C>T (p.Ile398=)
|
rs757427498
|
0.00001
|
|
NM_032043.3(BRIP1):c.120A>G (p.Gln40=)
|
rs878855136
|
0.00001
|
|
NM_032043.3(BRIP1):c.1266A>G (p.Leu422=)
|
rs1484320639
|
0.00001
|
|
NM_032043.3(BRIP1):c.1332C>T (p.Ser444=)
|
rs200581792
|
0.00001
|
|
NM_032043.3(BRIP1):c.1340+17A>G
|
rs1450290454
|
0.00001
|
|
NM_032043.3(BRIP1):c.1341-12A>G
|
rs1441257544
|
0.00001
|
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
0.00001
|
|
NM_032043.3(BRIP1):c.1473+19C>T
|
rs201603389
|
0.00001
|
|
NM_032043.3(BRIP1):c.1473+6A>G
|
rs587780827
|
0.00001
|
|
NM_032043.3(BRIP1):c.1474-3T>C
|
rs552752779
|
0.00001
|
|
NM_032043.3(BRIP1):c.1476A>T (p.Gly492=)
|
rs1398626535
|
0.00001
|
|
NM_032043.3(BRIP1):c.1542A>G (p.Arg514=)
|
rs779454200
|
0.00001
|
|
NM_032043.3(BRIP1):c.1628+11A>G
|
rs1064793459
|
0.00001
|
|
NM_032043.3(BRIP1):c.1628+18G>C
|
rs1005163267
|
0.00001
|
|
NM_032043.3(BRIP1):c.1628+20A>G
|
rs200292462
|
0.00001
|
|
NM_032043.3(BRIP1):c.1710G>A (p.Leu570=)
|
rs370087045
|
0.00001
|
|
NM_032043.3(BRIP1):c.1731G>A (p.Lys577=)
|
rs587780829
|
0.00001
|
|
NM_032043.3(BRIP1):c.1752T>G (p.Thr584=)
|
rs778774207
|
0.00001
|
|
NM_032043.3(BRIP1):c.1795-7C>G
|
rs760326491
|
0.00001
|
|
NM_032043.3(BRIP1):c.1795-9T>G
|
rs777006706
|
0.00001
|
|
NM_032043.3(BRIP1):c.1797C>G (p.Ala599=)
|
rs771672834
|
0.00001
|
|
NM_032043.3(BRIP1):c.1935+14T>G
|
rs773754230
|
0.00001
|
|
NM_032043.3(BRIP1):c.1935+15T>C
|
rs796483567
|
0.00001
|
|
NM_032043.3(BRIP1):c.1936-7A>T
|
rs1427111542
|
0.00001
|
|
NM_032043.3(BRIP1):c.1989C>A (p.Thr663=)
|
rs376628979
|
0.00001
|
|
NM_032043.3(BRIP1):c.1989C>T (p.Thr663=)
|
rs376628979
|
0.00001
|
|
NM_032043.3(BRIP1):c.2031A>T (p.Gly677=)
|
rs1288620174
|
0.00001
|
|
NM_032043.3(BRIP1):c.2038T>C (p.Leu680=)
|
rs786203872
|
0.00001
|
|
NM_032043.3(BRIP1):c.205+16A>G
|
rs1057520253
|
0.00001
|
|
NM_032043.3(BRIP1):c.205+20C>G
|
rs1567876836
|
0.00001
|
|
NM_032043.3(BRIP1):c.205+3A>G
|
rs539329589
|
0.00001
|
|
NM_032043.3(BRIP1):c.2098-3T>C
|
rs1057520463
|
0.00001
|
|
NM_032043.3(BRIP1):c.2121T>C (p.Arg707=)
|
rs1481107855
|
0.00001
|
|
NM_032043.3(BRIP1):c.2136T>C (p.Gly712=)
|
rs1426003140
|
0.00001
|
|
NM_032043.3(BRIP1):c.2155T>C (p.Leu719=)
|
rs771122056
|
0.00001
|
|
NM_032043.3(BRIP1):c.2172T>A (p.Ile724=)
|
rs777860588
|
0.00001
|
|
NM_032043.3(BRIP1):c.2257+17T>C
|
rs730881639
|
0.00001
|
|
NM_032043.3(BRIP1):c.2258-18T>G
|
rs544273704
|
0.00001
|
|
NM_032043.3(BRIP1):c.2258-8T>C
|
rs2077009801
|
0.00001
|
|
NM_032043.3(BRIP1):c.225C>T (p.Gly75=)
|
rs186802750
|
0.00001
|
|
NM_032043.3(BRIP1):c.2295G>A (p.Val765=)
|
rs752509701
|
0.00001
|
|
NM_032043.3(BRIP1):c.2301G>A (p.Glu767=)
|
rs369434185
|
0.00001
|
|
NM_032043.3(BRIP1):c.2304T>C (p.Gly768=)
|
rs1603303843
|
0.00001
|
|
NM_032043.3(BRIP1):c.2310T>C (p.Asp770=)
|
rs148752066
|
0.00001
|
|
NM_032043.3(BRIP1):c.2370A>G (p.Lys790=)
|
rs372122365
|
0.00001
|
|
NM_032043.3(BRIP1):c.2382T>G (p.Val794=)
|
rs560088455
|
0.00001
|
|
NM_032043.3(BRIP1):c.2419T>C (p.Leu807=)
|
rs786201708
|
0.00001
|
|
NM_032043.3(BRIP1):c.2427T>C (p.Gly809=)
|
rs754927538
|
0.00001
|
|
NM_032043.3(BRIP1):c.2478C>T (p.Asn826=)
|
rs774939280
|
0.00001
|
|
NM_032043.3(BRIP1):c.2493-11A>G
|
rs890923836
|
0.00001
|
|
NM_032043.3(BRIP1):c.2505C>T (p.His835=)
|
rs775547651
|
0.00001
|
|
NM_032043.3(BRIP1):c.2514T>C (p.Asp838=)
|
rs1555574808
|
0.00001
|
|
NM_032043.3(BRIP1):c.2523T>C (p.Ala841=)
|
rs1603280558
|
0.00001
|
|
NM_032043.3(BRIP1):c.2568T>C (p.Tyr856=)
|
rs370175724
|
0.00001
|
|
NM_032043.3(BRIP1):c.2576-7T>C
|
rs759408257
|
0.00001
|
|
NM_032043.3(BRIP1):c.2598G>A (p.Gln866=)
|
rs769021796
|
0.00001
|
|
NM_032043.3(BRIP1):c.2613T>C (p.His871=)
|
rs199721657
|
0.00001
|
|
NM_032043.3(BRIP1):c.2628T>C (p.Ser876=)
|
rs1032574757
|
0.00001
|
|
NM_032043.3(BRIP1):c.2646T>C (p.Ala882=)
|
rs1342595412
|
0.00001
|
|
NM_032043.3(BRIP1):c.2689A>G (p.Lys897Glu)
|
rs587781644
|
0.00001
|
|
NM_032043.3(BRIP1):c.2811T>C (p.Asp937=)
|
rs374335608
|
0.00001
|
|
NM_032043.3(BRIP1):c.2820G>A (p.Lys940=)
|
rs786201396
|
0.00001
|
|
NM_032043.3(BRIP1):c.2841G>A (p.Gln947=)
|
rs786201414
|
0.00001
|
|
NM_032043.3(BRIP1):c.2874A>T (p.Leu958=)
|
rs886041147
|
0.00001
|
|
NM_032043.3(BRIP1):c.2885T>C (p.Ile962Thr)
|
rs786201632
|
0.00001
|
|
NM_032043.3(BRIP1):c.2906-15T>A
|
rs771068891
|
0.00001
|
|
NM_032043.3(BRIP1):c.2936A>G (p.Lys979Arg)
|
rs2061326120
|
0.00001
|
|
NM_032043.3(BRIP1):c.3045A>G (p.Lys1015=)
|
rs1555572892
|
0.00001
|
|
NM_032043.3(BRIP1):c.3075A>T (p.Ser1025=)
|
rs1060504319
|
0.00001
|
|
NM_032043.3(BRIP1):c.3093T>C (p.Ser1031=)
|
rs937490699
|
0.00001
|
|
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg)
|
rs763162379
|
0.00001
|
|
NM_032043.3(BRIP1):c.3139T>C (p.Leu1047=)
|
rs1060504333
|
0.00001
|
|
NM_032043.3(BRIP1):c.3149C>A (p.Thr1050Asn)
|
rs373040333
|
0.00001
|
|
NM_032043.3(BRIP1):c.315A>G (p.Ser105=)
|
rs1555617827
|
0.00001
|
|
NM_032043.3(BRIP1):c.3234G>A (p.Lys1078=)
|
rs570238270
|
0.00001
|
|
NM_032043.3(BRIP1):c.3243C>T (p.Ala1081=)
|
rs754003636
|
0.00001
|
|
NM_032043.3(BRIP1):c.3252T>C (p.Thr1084=)
|
rs1555572745
|
0.00001
|
|
NM_032043.3(BRIP1):c.3276G>A (p.Pro1092=)
|
rs375911315
|
0.00001
|
|
NM_032043.3(BRIP1):c.3306C>T (p.Asp1102=)
|
rs1220971956
|
0.00001
|
|
NM_032043.3(BRIP1):c.3354T>C (p.Asn1118=)
|
rs757427210
|
0.00001
|
|
NM_032043.3(BRIP1):c.3381T>C (p.Asp1127=)
|
rs1403990854
|
0.00001
|
|
NM_032043.3(BRIP1):c.3468T>C (p.Asn1156=)
|
rs747624574
|
0.00001
|
|
NM_032043.3(BRIP1):c.357T>C (p.Asn119=)
|
rs786202477
|
0.00001
|
|
NM_032043.3(BRIP1):c.3636T>C (p.Asn1212=)
|
rs374392860
|
0.00001
|
|
NM_032043.3(BRIP1):c.3681T>C (p.His1227=)
|
rs370581038
|
0.00001
|
|
NM_032043.3(BRIP1):c.3717C>T (p.Ser1239=)
|
rs758809865
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-10C>T
|
rs1187614578
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-11A>G
|
rs1407822955
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-20T>C
|
rs748849028
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-7A>G
|
rs748143260
|
0.00001
|
|
NM_032043.3(BRIP1):c.380-9T>C
|
rs876661141
|
0.00001
|
|
NM_032043.3(BRIP1):c.412T>C (p.Leu138=)
|
rs786201292
|
0.00001
|
|
NM_032043.3(BRIP1):c.426A>G (p.Lys142=)
|
rs768008017
|
0.00001
|
|
NM_032043.3(BRIP1):c.507+19C>T
|
rs1057520658
|
0.00001
|
|
NM_032043.3(BRIP1):c.51T>C (p.Phe17=)
|
rs762827371
|
0.00001
|
|
NM_032043.3(BRIP1):c.537A>G (p.Glu179=)
|
rs775509896
|
0.00001
|
|
NM_032043.3(BRIP1):c.570A>G (p.Gly190=)
|
rs1368897810
|
0.00001
|
|
NM_032043.3(BRIP1):c.612C>G (p.Ser204=)
|
rs587780832
|
0.00001
|
|
NM_032043.3(BRIP1):c.627+16A>G
|
rs1428730008
|
0.00001
|
|
NM_032043.3(BRIP1):c.628-10T>A
|
rs375646029
|
0.00001
|
|
NM_032043.3(BRIP1):c.628-11C>G
|
rs762672738
|
0.00001
|
|
NM_032043.3(BRIP1):c.628-20G>A
|
rs533827333
|
0.00001
|
|
NM_032043.3(BRIP1):c.630C>G (p.Pro210=)
|
rs864622510
|
0.00001
|
|
NM_032043.3(BRIP1):c.684G>A (p.Glu228=)
|
rs876659909
|
0.00001
|
|
NM_032043.3(BRIP1):c.705G>A (p.Lys235=)
|
rs1332585999
|
0.00001
|
|
NM_032043.3(BRIP1):c.714A>G (p.Thr238=)
|
rs548018916
|
0.00001
|
|
NM_032043.3(BRIP1):c.732C>A (p.Pro244=)
|
rs786202300
|
0.00001
|
|
NM_032043.3(BRIP1):c.750A>G (p.Thr250=)
|
rs1057522393
|
0.00001
|
|
NM_032043.3(BRIP1):c.753C>T (p.Arg251=)
|
rs876659416
|
0.00001
|
|
NM_032043.3(BRIP1):c.795G>A (p.Arg265=)
|
rs61754143
|
0.00001
|
|
NM_032043.3(BRIP1):c.867C>T (p.Val289=)
|
rs147739458
|
0.00001
|
|
NM_032043.3(BRIP1):c.919-10T>G
|
rs748497834
|
0.00001
|
|
NM_032043.3(BRIP1):c.919-17T>C
|
rs770416347
|
0.00001
|
|
NM_032043.3(BRIP1):c.919-8G>T
|
rs777079928
|
0.00001
|
|
NM_032043.3(BRIP1):c.93+13C>T
|
rs2078970776
|
0.00001
|
|
NM_032043.3(BRIP1):c.972A>T (p.Thr324=)
|
rs779627397
|
0.00001
|
|
NM_032043.3(BRIP1):c.975A>G (p.Leu325=)
|
rs771630777
|
0.00001
|
|
NM_032043.3(BRIP1):c.984C>T (p.Phe328=)
|
rs745379285
|
0.00001
|
|
NM_032444.4(SLX4):c.1011G>A (p.Pro337=)
|
rs778310070
|
0.00001
|
|
NM_032444.4(SLX4):c.1026G>A (p.Pro342=)
|
rs755211335
|
0.00001
|
|
NM_032444.4(SLX4):c.1140T>C (p.Gly380=)
|
rs1255116355
|
0.00001
|
|
NM_032444.4(SLX4):c.1143C>T (p.Ser381=)
|
rs1398627485
|
0.00001
|
|
NM_032444.4(SLX4):c.1155C>T (p.Pro385=)
|
rs763763182
|
0.00001
|
|
NM_032444.4(SLX4):c.1163+11G>A
|
rs2040719573
|
0.00001
|
|
NM_032444.4(SLX4):c.1163+7C>T
|
rs1367462435
|
0.00001
|
|
NM_032444.4(SLX4):c.1179T>C (p.Ser393=)
|
rs772030041
|
0.00001
|
|
NM_032444.4(SLX4):c.1251G>A (p.Pro417=)
|
rs780972710
|
0.00001
|
|
NM_032444.4(SLX4):c.1284C>T (p.Ser428=)
|
rs2040683174
|
0.00001
|
|
NM_032444.4(SLX4):c.1308G>A (p.Ala436=)
|
rs147915773
|
0.00001
|
|
NM_032444.4(SLX4):c.1320G>A (p.Ala440=)
|
rs776448104
|
0.00001
|
|
NM_032444.4(SLX4):c.1366+7G>A
|
rs199889969
|
0.00001
|
|
NM_032444.4(SLX4):c.1367-18G>A
|
rs771618757
|
0.00001
|
|
NM_032444.4(SLX4):c.1407A>G (p.Pro469=)
|
rs1567174102
|
0.00001
|
|
NM_032444.4(SLX4):c.1437A>G (p.Thr479=)
|
rs376641868
|
0.00001
|
|
NM_032444.4(SLX4):c.1629G>A (p.Glu543=)
|
rs749696604
|
0.00001
|
|
NM_032444.4(SLX4):c.1647G>A (p.Arg549=)
|
rs1596527389
|
0.00001
|
|
NM_032444.4(SLX4):c.1683+15T>C
|
rs1215077519
|
0.00001
|
|
NM_032444.4(SLX4):c.1684-15dup
|
rs1434348843
|
0.00001
|
|
NM_032444.4(SLX4):c.1698G>A (p.Glu566=)
|
rs1284128847
|
0.00001
|
|
NM_032444.4(SLX4):c.171C>T (p.Ser57=)
|
rs1193950128
|
0.00001
|
|
NM_032444.4(SLX4):c.1734G>A (p.Glu578=)
|
rs777492094
|
0.00001
|
|
NM_032444.4(SLX4):c.1845C>T (p.Leu615=)
|
rs1056084
|
0.00001
|
|
NM_032444.4(SLX4):c.1872C>T (p.Ser624=)
|
rs767618166
|
0.00001
|
|
NM_032444.4(SLX4):c.1900C>T (p.Leu634=)
|
rs768182554
|
0.00001
|
|
NM_032444.4(SLX4):c.1992G>A (p.Pro664=)
|
rs770441819
|
0.00001
|
|
NM_032444.4(SLX4):c.2099G>A (p.Gly700Glu)
|
rs373081094
|
0.00001
|
|
NM_032444.4(SLX4):c.2118C>T (p.His706=)
|
rs371401752
|
0.00001
|
|
NM_032444.4(SLX4):c.2166C>T (p.Asn722=)
|
rs767528538
|
0.00001
|
|
NM_032444.4(SLX4):c.2289T>C (p.Pro763=)
|
rs1389488864
|
0.00001
|
|
NM_032444.4(SLX4):c.2328-7G>A
|
rs761644117
|
0.00001
|
|
NM_032444.4(SLX4):c.2349T>C (p.Val783=)
|
rs1229447712
|
0.00001
|
|
NM_032444.4(SLX4):c.2412A>G (p.Glu804=)
|
rs753755892
|
0.00001
|
|
NM_032444.4(SLX4):c.2421T>C (p.Asn807=)
|
rs760214045
|
0.00001
|
|
NM_032444.4(SLX4):c.2455T>C (p.Leu819=)
|
rs2040589478
|
0.00001
|
|
NM_032444.4(SLX4):c.2517C>T (p.His839=)
|
rs766929821
|
0.00001
|
|
NM_032444.4(SLX4):c.2682C>T (p.Val894=)
|
rs751088370
|
0.00001
|
|
NM_032444.4(SLX4):c.2724G>A (p.Pro908=)
|
rs760071419
|
0.00001
|
|
NM_032444.4(SLX4):c.2725T>C (p.Leu909=)
|
rs774477719
|
0.00001
|
|
NM_032444.4(SLX4):c.2778C>T (p.Cys926=)
|
rs375872764
|
0.00001
|
|
NM_032444.4(SLX4):c.2784C>T (p.Leu928=)
|
rs372754390
|
0.00001
|
|
NM_032444.4(SLX4):c.279C>G (p.Thr93=)
|
rs543091261
|
0.00001
|
|
NM_032444.4(SLX4):c.2850G>A (p.Glu950=)
|
rs751882942
|
0.00001
|
|
NM_032444.4(SLX4):c.2856G>A (p.Ala952=)
|
rs1434868021
|
0.00001
|
|
NM_032444.4(SLX4):c.2889G>A (p.Arg963=)
|
rs201978747
|
0.00001
|
|
NM_032444.4(SLX4):c.2925G>A (p.Pro975=)
|
rs1431725463
|
0.00001
|
|
NM_032444.4(SLX4):c.2964A>G (p.Ser988=)
|
rs1596522182
|
0.00001
|
|
NM_032444.4(SLX4):c.3064C>T (p.Leu1022=)
|
rs1391997347
|
0.00001
|
|
NM_032444.4(SLX4):c.3105C>T (p.Phe1035=)
|
rs1313995893
|
0.00001
|
|
NM_032444.4(SLX4):c.3153A>G (p.Thr1051=)
|
rs1484366381
|
0.00001
|
|
NM_032444.4(SLX4):c.3363T>C (p.Ser1121=)
|
rs770731522
|
0.00001
|
|
NM_032444.4(SLX4):c.3367T>C (p.Ser1123Pro)
|
rs201582780
|
0.00001
|
|
NM_032444.4(SLX4):c.3388A>G (p.Asn1130Asp)
|
rs1276163880
|
0.00001
|
|
NM_032444.4(SLX4):c.3507G>A (p.Lys1169=)
|
rs183926603
|
0.00001
|
|
NM_032444.4(SLX4):c.3588T>C (p.Asp1196=)
|
rs112016711
|
0.00001
|
|
NM_032444.4(SLX4):c.3594T>C (p.Asp1198=)
|
rs1238819543
|
0.00001
|
|
NM_032444.4(SLX4):c.3634G>A (p.Ala1212Thr)
|
rs574844562
|
0.00001
|
|
NM_032444.4(SLX4):c.3741G>A (p.Glu1247=)
|
rs769032315
|
0.00001
|
|
NM_032444.4(SLX4):c.3810T>C (p.Ser1270=)
|
rs563781078
|
0.00001
|
|
NM_032444.4(SLX4):c.3858G>A (p.Ala1286=)
|
rs771503932
|
0.00001
|
|
NM_032444.4(SLX4):c.3894C>T (p.Asn1298=)
|
rs1260811996
|
0.00001
|
|
NM_032444.4(SLX4):c.3906C>T (p.Asn1302=)
|
rs763731687
|
0.00001
|
|
NM_032444.4(SLX4):c.3912C>T (p.Val1304=)
|
rs140254478
|
0.00001
|
|
NM_032444.4(SLX4):c.3981C>T (p.Pro1327=)
|
rs752013274
|
0.00001
|
|
NM_032444.4(SLX4):c.4056G>A (p.Pro1352=)
|
rs768415277
|
0.00001
|
|
NM_032444.4(SLX4):c.4098C>T (p.Arg1366=)
|
rs770811758
|
0.00001
|
|
NM_032444.4(SLX4):c.4134G>A (p.Pro1378=)
|
rs760757846
|
0.00001
|
|
NM_032444.4(SLX4):c.4182A>G (p.Glu1394=)
|
rs1232843058
|
0.00001
|
|
NM_032444.4(SLX4):c.4197C>T (p.Asp1399=)
|
rs146079010
|
0.00001
|
|
NM_032444.4(SLX4):c.423G>A (p.Gly141=)
|
rs111405249
|
0.00001
|
|
NM_032444.4(SLX4):c.429G>A (p.Val143=)
|
rs747624579
|
0.00001
|
|
NM_032444.4(SLX4):c.4347G>A (p.Leu1449=)
|
rs373300793
|
0.00001
|
|
NM_032444.4(SLX4):c.4359C>T (p.Ser1453=)
|
rs776711072
|
0.00001
|
|
NM_032444.4(SLX4):c.4383C>T (p.Ala1461=)
|
rs556719111
|
0.00001
|
|
NM_032444.4(SLX4):c.4386C>T (p.Ala1462=)
|
rs747185125
|
0.00001
|
|
NM_032444.4(SLX4):c.4410G>A (p.Pro1470=)
|
rs1555449966
|
0.00001
|
|
NM_032444.4(SLX4):c.4524G>A (p.Ser1508=)
|
rs1423670990
|
0.00001
|
|
NM_032444.4(SLX4):c.4536C>T (p.Asp1512=)
|
rs1212941188
|
0.00001
|
|
NM_032444.4(SLX4):c.4563T>C (p.Pro1521=)
|
rs200225783
|
0.00001
|
|
NM_032444.4(SLX4):c.4636+10C>G
|
rs757181978
|
0.00001
|
|
NM_032444.4(SLX4):c.4683G>A (p.Thr1561=)
|
rs141196682
|
0.00001
|
|
NM_032444.4(SLX4):c.4797C>T (p.Phe1599=)
|
rs1159059195
|
0.00001
|
|
NM_032444.4(SLX4):c.4815C>G (p.Thr1605=)
|
rs752758310
|
0.00001
|
|
NM_032444.4(SLX4):c.4824A>G (p.Ser1608=)
|
rs767845523
|
0.00001
|
|
NM_032444.4(SLX4):c.486G>A (p.Thr162=)
|
rs762711558
|
0.00001
|
|
NM_032444.4(SLX4):c.4887C>T (p.Leu1629=)
|
rs761814315
|
0.00001
|
|
NM_032444.4(SLX4):c.4947A>G (p.Thr1649=)
|
rs540634044
|
0.00001
|
|
NM_032444.4(SLX4):c.5097T>A (p.Ser1699=)
|
rs202099433
|
0.00001
|
|
NM_032444.4(SLX4):c.5153+7G>A
|
rs370334914
|
0.00001
|
|
NM_032444.4(SLX4):c.5214G>A (p.Gly1738=)
|
rs369714623
|
0.00001
|
|
NM_032444.4(SLX4):c.5289G>A (p.Lys1763=)
|
rs759412447
|
0.00001
|
|
NM_032444.4(SLX4):c.531C>G (p.Thr177=)
|
rs749641379
|
0.00001
|
|
NM_032444.4(SLX4):c.536-12C>T
|
rs1190879833
|
0.00001
|
|
NM_032444.4(SLX4):c.5436C>T (p.Ala1812=)
|
rs200473811
|
0.00001
|
|
NM_032444.4(SLX4):c.5445G>A (p.Arg1815=)
|
rs199998573
|
0.00001
|
|
NM_032444.4(SLX4):c.645G>A (p.Gln215=)
|
rs1449991903
|
0.00001
|
|
NM_032444.4(SLX4):c.792C>T (p.Ser264=)
|
rs201383482
|
0.00001
|
|
NM_032444.4(SLX4):c.813C>T (p.Thr271=)
|
rs765351938
|
0.00001
|
|
NM_032444.4(SLX4):c.843A>G (p.Ala281=)
|
rs1009573141
|
0.00001
|
|
NM_032444.4(SLX4):c.888C>T (p.Cys296=)
|
rs758846114
|
0.00001
|
|
NM_032444.4(SLX4):c.950+7G>A
|
rs772672664
|
0.00001
|
|
NM_032634.4(PIGO):c.1083A>G (p.Leu361=)
|
rs773370567
|
0.00001
|
|
NM_032634.4(PIGO):c.1122G>A (p.Val374=)
|
rs549662606
|
0.00001
|
|
NM_032634.4(PIGO):c.1269T>C (p.Thr423=)
|
rs1399537198
|
0.00001
|
|
NM_032634.4(PIGO):c.1356G>C (p.Ala452=)
|
rs759532728
|
0.00001
|
|
NM_032634.4(PIGO):c.1359G>A (p.Gly453=)
|
rs368706055
|
0.00001
|
|
NM_032634.4(PIGO):c.1416A>T (p.Ala472=)
|
rs749630366
|
0.00001
|
|
NM_032634.4(PIGO):c.1444C>T (p.Leu482=)
|
rs1348890946
|
0.00001
|
|
NM_032634.4(PIGO):c.1644C>T (p.Pro548=)
|
rs776953036
|
0.00001
|
|
NM_032634.4(PIGO):c.1737A>G (p.Ser579=)
|
rs775812284
|
0.00001
|
|
NM_032634.4(PIGO):c.1809C>T (p.Pro603=)
|
rs148443358
|
0.00001
|
|
NM_032634.4(PIGO):c.1844G>A (p.Arg615Gln)
|
rs142897141
|
0.00001
|
|
NM_032634.4(PIGO):c.1869G>A (p.Arg623=)
|
rs1377334648
|
0.00001
|
|
NM_032634.4(PIGO):c.1884G>A (p.Leu628=)
|
rs746618634
|
0.00001
|
|
NM_032634.4(PIGO):c.2082C>G (p.Leu694=)
|
rs781688792
|
0.00001
|
|
NM_032634.4(PIGO):c.2091C>T (p.Pro697=)
|
rs751948800
|
0.00001
|
|
NM_032634.4(PIGO):c.2235G>A (p.Arg745=)
|
rs1286743624
|
0.00001
|
|
NM_032634.4(PIGO):c.2253T>C (p.Ala751=)
|
rs775929587
|
0.00001
|
|
NM_032634.4(PIGO):c.2313A>G (p.Ala771=)
|
rs764827608
|
0.00001
|
|
NM_032634.4(PIGO):c.2316C>T (p.Gly772=)
|
rs761210725
|
0.00001
|
|
NM_032634.4(PIGO):c.237A>G (p.Arg79=)
|
rs376966684
|
0.00001
|
|
NM_032634.4(PIGO):c.2461C>T (p.Leu821=)
|
rs758257961
|
0.00001
|
|
NM_032634.4(PIGO):c.2526G>T (p.Leu842=)
|
rs1587161908
|
0.00001
|
|
NM_032634.4(PIGO):c.2556G>A (p.Ala852=)
|
rs1237736509
|
0.00001
|
|
NM_032634.4(PIGO):c.2574G>C (p.Val858=)
|
rs188635839
|
0.00001
|
|
NM_032634.4(PIGO):c.258G>A (p.Gln86=)
|
rs113007517
|
0.00001
|
|
NM_032634.4(PIGO):c.2647+8T>C
|
rs1413916804
|
0.00001
|
|
NM_032634.4(PIGO):c.2648-18G>A
|
rs1187825054
|
0.00001
|
|
NM_032634.4(PIGO):c.2664A>G (p.Pro888=)
|
rs780598733
|
0.00001
|
|
NM_032634.4(PIGO):c.2673A>G (p.Ala891=)
|
rs754462625
|
0.00001
|
|
NM_032634.4(PIGO):c.2793T>C (p.Cys931=)
|
rs1829368380
|
0.00001
|
|
NM_032634.4(PIGO):c.2811G>A (p.Leu937=)
|
rs1829367601
|
0.00001
|
|
NM_032634.4(PIGO):c.2826C>T (p.Asn942=)
|
rs1197727015
|
0.00001
|
|
NM_032634.4(PIGO):c.2874G>C (p.Leu958=)
|
rs1269359376
|
0.00001
|
|
NM_032634.4(PIGO):c.3070-18C>T
|
rs757401378
|
0.00001
|
|
NM_032634.4(PIGO):c.3135C>T (p.Ala1045=)
|
rs771048903
|
0.00001
|
|
NM_032634.4(PIGO):c.3141-13C>T
|
rs1308554473
|
0.00001
|
|
NM_032634.4(PIGO):c.333G>A (p.Leu111=)
|
rs1334218397
|
0.00001
|
|
NM_032634.4(PIGO):c.348C>T (p.His116=)
|
rs1180613769
|
0.00001
|
|
NM_032634.4(PIGO):c.459C>T (p.Phe153=)
|
rs201331400
|
0.00001
|
|
NM_032634.4(PIGO):c.469G>A (p.Ala157Thr)
|
rs542399310
|
0.00001
|
|
NM_032634.4(PIGO):c.477G>A (p.Val159=)
|
rs761159621
|
0.00001
|
|
NM_032634.4(PIGO):c.512-7C>T
|
rs760113080
|
0.00001
|
|
NM_032634.4(PIGO):c.579T>C (p.Ala193=)
|
rs778672240
|
0.00001
|
|
NM_032634.4(PIGO):c.588C>T (p.Phe196=)
|
rs753452597
|
0.00001
|
|
NM_032634.4(PIGO):c.594C>A (p.Ser198=)
|
rs945097037
|
0.00001
|
|
NM_032634.4(PIGO):c.618A>G (p.Thr206=)
|
rs1829567186
|
0.00001
|
|
NM_032634.4(PIGO):c.651C>A (p.Pro217=)
|
rs1215068157
|
0.00001
|
|
NM_032634.4(PIGO):c.655+12G>A
|
rs1396401104
|
0.00001
|
|
NM_032634.4(PIGO):c.777C>T (p.Ile259=)
|
rs752829826
|
0.00001
|
|
NM_032634.4(PIGO):c.780-17C>T
|
rs201657567
|
0.00001
|
|
NM_032634.4(PIGO):c.780-7C>T
|
rs751631767
|
0.00001
|
|
NM_032634.4(PIGO):c.828G>C (p.Gly276=)
|
rs1487288215
|
0.00001
|
|
NM_032634.4(PIGO):c.852A>G (p.Gly284=)
|
rs1371825838
|
0.00001
|
|
NM_032634.4(PIGO):c.939+10G>A
|
rs1587170803
|
0.00001
|
|
NM_032634.4(PIGO):c.978G>A (p.Thr326=)
|
rs1423655238
|
0.00001
|
|
NM_032634.4(PIGO):c.984C>T (p.Ala328=)
|
rs774644826
|
0.00001
|
|
NM_058216.3(RAD51C):c.1008A>G (p.Thr336=)
|
rs1057521598
|
0.00001
|
|
NM_058216.3(RAD51C):c.1027-3C>T
|
rs587782459
|
0.00001
|
|
NM_058216.3(RAD51C):c.102T>G (p.Thr34=)
|
rs550757849
|
0.00001
|
|
NM_058216.3(RAD51C):c.1077A>G (p.Thr359=)
|
rs763424319
|
0.00001
|
|
NM_058216.3(RAD51C):c.141C>T (p.Ser47=)
|
rs568912602
|
0.00001
|
|
NM_058216.3(RAD51C):c.145+11C>G
|
rs1263551026
|
0.00001
|
|
NM_058216.3(RAD51C):c.145+13G>A
|
rs1177750681
|
0.00001
|
|
NM_058216.3(RAD51C):c.15G>T (p.Thr5=)
|
rs777585467
|
0.00001
|
|
NM_058216.3(RAD51C):c.240G>A (p.Glu80=)
|
rs779053608
|
0.00001
|
|
NM_058216.3(RAD51C):c.276G>A (p.Glu92=)
|
rs1217274682
|
0.00001
|
|
NM_058216.3(RAD51C):c.363A>G (p.Thr121=)
|
rs876659626
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+16C>G
|
rs376465837
|
0.00001
|
|
NM_058216.3(RAD51C):c.404+7T>C
|
rs1350153132
|
0.00001
|
|
NM_058216.3(RAD51C):c.435A>G (p.Pro145=)
|
rs555235745
|
0.00001
|
|
NM_058216.3(RAD51C):c.537C>T (p.His179=)
|
rs372385738
|
0.00001
|
|
NM_058216.3(RAD51C):c.572-11T>G
|
rs746890699
|
0.00001
|
|
NM_058216.3(RAD51C):c.572-15G>A
|
rs757896995
|
0.00001
|
|
NM_058216.3(RAD51C):c.572-20A>C
|
rs933464572
|
0.00001
|
|
NM_058216.3(RAD51C):c.651A>G (p.Thr217=)
|
rs757915374
|
0.00001
|
|
NM_058216.3(RAD51C):c.654G>A (p.Glu218=)
|
rs1388636466
|
0.00001
|
|
NM_058216.3(RAD51C):c.66G>A (p.Ala22=)
|
rs876660695
|
0.00001
|
|
NM_058216.3(RAD51C):c.6C>T (p.Arg2=)
|
rs1334508786
|
0.00001
|
|
NM_058216.3(RAD51C):c.706-17A>G
|
rs772028189
|
0.00001
|
|
NM_058216.3(RAD51C):c.706-6A>G
|
rs776931174
|
0.00001
|
|
NM_058216.3(RAD51C):c.714A>G (p.Leu238=)
|
rs1251441432
|
0.00001
|
|
NM_058216.3(RAD51C):c.75G>A (p.Val25=)
|
rs779332818
|
0.00001
|
|
NM_058216.3(RAD51C):c.78G>A (p.Lys26=)
|
rs864622460
|
0.00001
|
|
NM_058216.3(RAD51C):c.79C>T (p.Leu27=)
|
rs786201775
|
0.00001
|
|
NM_058216.3(RAD51C):c.837+10A>C
|
rs1438994462
|
0.00001
|
|
NM_058216.3(RAD51C):c.837+16T>G
|
rs776692560
|
0.00001
|
|
NM_058216.3(RAD51C):c.838-15A>G
|
rs150042209
|
0.00001
|
|
NM_058216.3(RAD51C):c.838-16C>T
|
rs374620446
|
0.00001
|
|
NM_058216.3(RAD51C):c.840A>G (p.Val280=)
|
rs756503509
|
0.00001
|
|
NM_058216.3(RAD51C):c.904+16G>C
|
rs929872458
|
0.00001
|
|
NM_058216.3(RAD51C):c.904+8A>G
|
rs2048894791
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-5C>T
|
rs371968149
|
0.00001
|
|
NM_058216.3(RAD51C):c.905-7C>T
|
rs757624360
|
0.00001
|
|
NM_058216.3(RAD51C):c.966-12T>C
|
rs1057522948
|
0.00001
|
|
NM_058216.3(RAD51C):c.966-8T>G
|
rs1181139153
|
0.00001
|
|
NM_058216.3(RAD51C):c.9G>C (p.Gly3=)
|
rs751117852
|
0.00001
|
|
NM_130468.4(CHST14):c.180C>T (p.Ile60=)
|
rs938393246
|
0.00001
|
|
NM_130468.4(CHST14):c.189C>T (p.Gly63=)
|
rs1398111943
|
0.00001
|
|
NM_130468.4(CHST14):c.198C>G (p.Ala66=)
|
rs1014902072
|
0.00001
|
|
NM_130468.4(CHST14):c.217C>T (p.Leu73=)
|
rs1482604204
|
0.00001
|
|
NM_130468.4(CHST14):c.297C>T (p.Asp99=)
|
rs1328842726
|
0.00001
|
|
NM_130468.4(CHST14):c.378C>G (p.Pro126=)
|
rs752221539
|
0.00001
|
|
NM_130468.4(CHST14):c.45C>G (p.Ala15=)
|
rs1566969002
|
0.00001
|
|
NM_130468.4(CHST14):c.580C>T (p.Leu194=)
|
rs1310579126
|
0.00001
|
|
NM_130468.4(CHST14):c.582G>A (p.Leu194=)
|
rs1377861803
|
0.00001
|
|
NM_130468.4(CHST14):c.642G>A (p.Glu214=)
|
rs146662235
|
0.00001
|
|
NM_130468.4(CHST14):c.732G>C (p.Arg244=)
|
rs1208945086
|
0.00001
|
|
NM_130468.4(CHST14):c.801G>C (p.Leu267=)
|
rs998708059
|
0.00001
|
|
NM_130468.4(CHST14):c.822C>G (p.Arg274=)
|
rs111456654
|
0.00001
|
|
NM_130468.4(CHST14):c.843C>T (p.Pro281=)
|
rs778120798
|
0.00001
|
|
NM_130468.4(CHST14):c.978C>T (p.Ala326=)
|
rs576061822
|
0.00001
|
|
NM_130468.4(CHST14):c.99G>A (p.Gly33=)
|
rs545629118
|
0.00001
|
|
NM_133433.4(NIPBL):c.1224A>G (p.Gln408=)
|
rs764746811
|
0.00001
|
|
NM_133433.4(NIPBL):c.123C>T (p.Leu41=)
|
rs774269226
|
0.00001
|
|
NM_133433.4(NIPBL):c.1496-9A>G
|
rs754119799
|
0.00001
|
|
NM_133433.4(NIPBL):c.230+10A>T
|
rs1342924796
|
0.00001
|
|
NM_133433.4(NIPBL):c.2451C>T (p.Asp817=)
|
rs587783903
|
0.00001
|
|
NM_133433.4(NIPBL):c.2703T>C (p.Asn901=)
|
rs774346043
|
0.00001
|
|
NM_133433.4(NIPBL):c.3574+7C>T
|
rs1382498807
|
0.00001
|
|
NM_133433.4(NIPBL):c.3630G>A (p.Leu1210=)
|
rs372752190
|
0.00001
|
|
NM_133433.4(NIPBL):c.4087+9G>A
|
rs757255852
|
0.00001
|
|
NM_133433.4(NIPBL):c.4161T>C (p.Tyr1387=)
|
rs752419634
|
0.00001
|
|
NM_133433.4(NIPBL):c.5225+7T>A
|
rs767449402
|
0.00001
|
|
NM_133433.4(NIPBL):c.5226-9T>G
|
rs774131588
|
0.00001
|
|
NM_133433.4(NIPBL):c.5403T>C (p.Ala1801=)
|
rs1394378576
|
0.00001
|
|
NM_133433.4(NIPBL):c.585C>T (p.Tyr195=)
|
rs80358360
|
0.00001
|
|
NM_133433.4(NIPBL):c.606A>G (p.Gln202=)
|
rs1233849776
|
0.00001
|
|
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=)
|
rs372730081
|
0.00001
|
|
NM_133433.4(NIPBL):c.7411-15G>A
|
rs374348403
|
0.00001
|
|
NM_133433.4(NIPBL):c.7602C>T (p.Ile2534=)
|
rs398124472
|
0.00001
|
|
NM_147127.5(EVC2):c.1006-7C>T
|
rs760800233
|
0.00001
|
|
NM_147127.5(EVC2):c.1035C>G (p.Pro345=)
|
rs1719022666
|
0.00001
|
|
NM_147127.5(EVC2):c.1056T>C (p.Asp352=)
|
rs900466909
|
0.00001
|
|
NM_147127.5(EVC2):c.1062G>A (p.Val354=)
|
rs756157217
|
0.00001
|
|
NM_147127.5(EVC2):c.1107T>C (p.Ser369=)
|
rs776250707
|
0.00001
|
|
NM_147127.5(EVC2):c.1134A>G (p.Gln378=)
|
rs756310412
|
0.00001
|
|
NM_147127.5(EVC2):c.1146-9G>T
|
rs774847750
|
0.00001
|
|
NM_147127.5(EVC2):c.1245C>G (p.Thr415=)
|
rs747208576
|
0.00001
|
|
NM_147127.5(EVC2):c.1380G>C (p.Leu460=)
|
rs1438407396
|
0.00001
|
|
NM_147127.5(EVC2):c.1392G>A (p.Lys464=)
|
rs1362654881
|
0.00001
|
|
NM_147127.5(EVC2):c.1440A>G (p.Ala480=)
|
rs779955202
|
0.00001
|
|
NM_147127.5(EVC2):c.1455A>G (p.Lys485=)
|
rs1371814417
|
0.00001
|
|
NM_147127.5(EVC2):c.1476T>C (p.Ala492=)
|
rs141479252
|
0.00001
|
|
NM_147127.5(EVC2):c.1485C>T (p.Cys495=)
|
rs911180448
|
0.00001
|
|
NM_147127.5(EVC2):c.1542C>T (p.Leu514=)
|
rs376252506
|
0.00001
|
|
NM_147127.5(EVC2):c.1545T>A (p.Ala515=)
|
rs1716570565
|
0.00001
|
|
NM_147127.5(EVC2):c.1584G>A (p.Gln528=)
|
rs1273439269
|
0.00001
|
|
NM_147127.5(EVC2):c.1620C>T (p.Ile540=)
|
rs768068789
|
0.00001
|
|
NM_147127.5(EVC2):c.1650C>T (p.Phe550=)
|
rs765432520
|
0.00001
|
|
NM_147127.5(EVC2):c.1710+10C>T
|
rs779023251
|
0.00001
|
|
NM_147127.5(EVC2):c.171G>T (p.Gly57=)
|
rs1722350740
|
0.00001
|
|
NM_147127.5(EVC2):c.174C>G (p.Pro58=)
|
rs1317163956
|
0.00001
|
|
NM_147127.5(EVC2):c.180G>C (p.Leu60=)
|
rs746557117
|
0.00001
|
|
NM_147127.5(EVC2):c.1827G>A (p.Val609=)
|
rs758243772
|
0.00001
|
|
NM_147127.5(EVC2):c.1881C>T (p.His627=)
|
rs1181526421
|
0.00001
|
|
NM_147127.5(EVC2):c.1897C>T (p.Leu633=)
|
rs755775994
|
0.00001
|
|
NM_147127.5(EVC2):c.1899G>C (p.Leu633=)
|
rs750061407
|
0.00001
|
|
NM_147127.5(EVC2):c.1908C>T (p.Asp636=)
|
rs753259274
|
0.00001
|
|
NM_147127.5(EVC2):c.1923A>G (p.Leu641=)
|
rs1193715900
|
0.00001
|
|
NM_147127.5(EVC2):c.1947C>G (p.Val649=)
|
rs748436461
|
0.00001
|
|
NM_147127.5(EVC2):c.195G>A (p.Gly65=)
|
rs1351285832
|
0.00001
|
|
NM_147127.5(EVC2):c.1974T>C (p.Asn658=)
|
rs146401544
|
0.00001
|
|
NM_147127.5(EVC2):c.1998G>A (p.Lys666=)
|
rs201835379
|
0.00001
|
|
NM_147127.5(EVC2):c.2026A>C (p.Arg676=)
|
rs922218808
|
0.00001
|
|
NM_147127.5(EVC2):c.2043A>G (p.Gln681=)
|
rs774467445
|
0.00001
|
|
NM_147127.5(EVC2):c.2088C>G (p.Ala696=)
|
rs1460893645
|
0.00001
|
|
NM_147127.5(EVC2):c.2109C>T (p.Ala703=)
|
rs1290218024
|
0.00001
|
|
NM_147127.5(EVC2):c.2169G>A (p.Glu723=)
|
rs1300347009
|
0.00001
|
|
NM_147127.5(EVC2):c.216G>A (p.Glu72=)
|
rs1478999602
|
0.00001
|
|
NM_147127.5(EVC2):c.2172G>T (p.Leu724=)
|
rs546009991
|
0.00001
|
|
NM_147127.5(EVC2):c.2193C>T (p.Ala731=)
|
rs143262952
|
0.00001
|
|
NM_147127.5(EVC2):c.219C>T (p.Ser73=)
|
rs1423567913
|
0.00001
|
|
NM_147127.5(EVC2):c.2226G>A (p.Ser742=)
|
rs1225003407
|
0.00001
|
|
NM_147127.5(EVC2):c.2265G>A (p.Gln755=)
|
rs962222538
|
0.00001
|
|
NM_147127.5(EVC2):c.2274C>T (p.Ala758=)
|
rs1195932614
|
0.00001
|
|
NM_147127.5(EVC2):c.228+10G>T
|
rs1478451043
|
0.00001
|
|
NM_147127.5(EVC2):c.229-7T>G
|
rs763121941
|
0.00001
|
|
NM_147127.5(EVC2):c.2292C>G (p.Leu764=)
|
rs200598574
|
0.00001
|
|
NM_147127.5(EVC2):c.2364C>T (p.Ala788=)
|
rs575617564
|
0.00001
|
|
NM_147127.5(EVC2):c.2376G>A (p.Glu792=)
|
rs752095410
|
0.00001
|
|
NM_147127.5(EVC2):c.2379G>A (p.Gly793=)
|
rs984357172
|
0.00001
|
|
NM_147127.5(EVC2):c.2391C>T (p.Asp797=)
|
rs920334676
|
0.00001
|
|
NM_147127.5(EVC2):c.2607C>G (p.Pro869=)
|
rs752513992
|
0.00001
|
|
NM_147127.5(EVC2):c.2649G>A (p.Ala883=)
|
rs751714104
|
0.00001
|
|
NM_147127.5(EVC2):c.2685C>T (p.Ala895=)
|
rs771623926
|
0.00001
|
|
NM_147127.5(EVC2):c.2832T>C (p.Val944=)
|
rs1380334833
|
0.00001
|
|
NM_147127.5(EVC2):c.284-10T>C
|
rs1192584069
|
0.00001
|
|
NM_147127.5(EVC2):c.2925G>A (p.Ala975=)
|
rs760612784
|
0.00001
|
|
NM_147127.5(EVC2):c.2937C>T (p.Thr979=)
|
rs750126669
|
0.00001
|
|
NM_147127.5(EVC2):c.2995C>T (p.Leu999=)
|
rs745415485
|
0.00001
|
|
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys)
|
rs555666020
|
0.00001
|
|
NM_147127.5(EVC2):c.3039C>T (p.Ile1013=)
|
rs751382770
|
0.00001
|
|
NM_147127.5(EVC2):c.3042G>A (p.Leu1014=)
|
rs775309745
|
0.00001
|
|
NM_147127.5(EVC2):c.3057+13G>T
|
rs770915834
|
0.00001
|
|
NM_147127.5(EVC2):c.3060G>A (p.Glu1020=)
|
rs1284265777
|
0.00001
|
|
NM_147127.5(EVC2):c.3129C>T (p.Ala1043=)
|
rs987312090
|
0.00001
|
|
NM_147127.5(EVC2):c.3159T>C (p.Asp1053=)
|
rs777020546
|
0.00001
|
|
NM_147127.5(EVC2):c.3162G>T (p.Gly1054=)
|
rs777724107
|
0.00001
|
|
NM_147127.5(EVC2):c.3219C>T (p.Val1073=)
|
rs776929675
|
0.00001
|
|
NM_147127.5(EVC2):c.3264T>C (p.His1088=)
|
rs756868538
|
0.00001
|
|
NM_147127.5(EVC2):c.3270G>A (p.Gln1090=)
|
rs754317285
|
0.00001
|
|
NM_147127.5(EVC2):c.3273-7A>T
|
rs1382818953
|
0.00001
|
|
NM_147127.5(EVC2):c.3273-8C>T
|
rs756556239
|
0.00001
|
|
NM_147127.5(EVC2):c.327C>G (p.Val109=)
|
rs1721335332
|
0.00001
|
|
NM_147127.5(EVC2):c.3336C>T (p.Asp1112=)
|
rs746688755
|
0.00001
|
|
NM_147127.5(EVC2):c.3348C>T (p.Thr1116=)
|
rs1451776773
|
0.00001
|
|
NM_147127.5(EVC2):c.3361-4G>T
|
rs1378260553
|
0.00001
|
|
NM_147127.5(EVC2):c.3361-5T>C
|
rs374025466
|
0.00001
|
|
NM_147127.5(EVC2):c.3361-7C>G
|
rs772860972
|
0.00001
|
|
NM_147127.5(EVC2):c.3364C>T (p.Leu1122=)
|
rs1461295651
|
0.00001
|
|
NM_147127.5(EVC2):c.3372G>A (p.Leu1124=)
|
rs778492108
|
0.00001
|
|
NM_147127.5(EVC2):c.3378G>A (p.Ser1126=)
|
rs757807439
|
0.00001
|
|
NM_147127.5(EVC2):c.33G>A (p.Thr11=)
|
rs1202476781
|
0.00001
|
|
NM_147127.5(EVC2):c.3414G>A (p.Thr1138=)
|
rs768312867
|
0.00001
|
|
NM_147127.5(EVC2):c.3426C>T (p.Leu1142=)
|
rs1321179195
|
0.00001
|
|
NM_147127.5(EVC2):c.3447A>C (p.Thr1149=)
|
rs1291370512
|
0.00001
|
|
NM_147127.5(EVC2):c.3531G>A (p.Ala1177=)
|
rs770872108
|
0.00001
|
|
NM_147127.5(EVC2):c.3540C>T (p.Ala1180=)
|
rs373829825
|
0.00001
|
|
NM_147127.5(EVC2):c.3543C>T (p.Asp1181=)
|
rs762696562
|
0.00001
|
|
NM_147127.5(EVC2):c.3557+7G>C
|
rs748684933
|
0.00001
|
|
NM_147127.5(EVC2):c.3557+9C>T
|
rs928653922
|
0.00001
|
|
NM_147127.5(EVC2):c.3609G>C (p.Leu1203=)
|
rs754595798
|
0.00001
|
|
NM_147127.5(EVC2):c.3627A>G (p.Glu1209=)
|
rs374425966
|
0.00001
|
|
NM_147127.5(EVC2):c.3651A>G (p.Arg1217=)
|
rs962774281
|
0.00001
|
|
NM_147127.5(EVC2):c.3654G>A (p.Lys1218=)
|
rs770129558
|
0.00001
|
|
NM_147127.5(EVC2):c.3726A>C (p.Pro1242=)
|
rs767740349
|
0.00001
|
|
NM_147127.5(EVC2):c.372T>C (p.Ala124=)
|
rs753895375
|
0.00001
|
|
NM_147127.5(EVC2):c.3750C>T (p.Gly1250=)
|
rs775355661
|
0.00001
|
|
NM_147127.5(EVC2):c.3759C>T (p.Ala1253=)
|
rs1032044767
|
0.00001
|
|
NM_147127.5(EVC2):c.3771T>C (p.Ile1257=)
|
rs777144379
|
0.00001
|
|
NM_147127.5(EVC2):c.3849C>T (p.Ile1283=)
|
rs371771308
|
0.00001
|
|
NM_147127.5(EVC2):c.3867C>T (p.Pro1289=)
|
rs953355815
|
0.00001
|
|
NM_147127.5(EVC2):c.3924C>T (p.Asp1308=)
|
rs1277969148
|
0.00001
|
|
NM_147127.5(EVC2):c.408G>A (p.Lys136=)
|
rs763680760
|
0.00001
|
|
NM_147127.5(EVC2):c.40C>T (p.Leu14=)
|
rs1722366826
|
0.00001
|
|
NM_147127.5(EVC2):c.411G>A (p.Lys137=)
|
rs762375976
|
0.00001
|
|
NM_147127.5(EVC2):c.429G>A (p.Glu143=)
|
rs754435299
|
0.00001
|
|
NM_147127.5(EVC2):c.451-7del
|
rs1290670058
|
0.00001
|
|
NM_147127.5(EVC2):c.45C>T (p.Ala15=)
|
rs1285560156
|
0.00001
|
|
NM_147127.5(EVC2):c.498A>G (p.Val166=)
|
rs369509893
|
0.00001
|
|
NM_147127.5(EVC2):c.520-7G>T
|
rs1177228956
|
0.00001
|
|
NM_147127.5(EVC2):c.534T>C (p.Ser178=)
|
rs1720948331
|
0.00001
|
|
NM_147127.5(EVC2):c.591A>G (p.Ser197=)
|
rs1720942772
|
0.00001
|
|
NM_147127.5(EVC2):c.612C>T (p.Leu204=)
|
rs1317049169
|
0.00001
|
|
NM_147127.5(EVC2):c.630T>A (p.Ala210=)
|
rs1386228779
|
0.00001
|
|
NM_147127.5(EVC2):c.636C>T (p.Leu212=)
|
rs768639624
|
0.00001
|
|
NM_147127.5(EVC2):c.639C>T (p.Thr213=)
|
rs1323570343
|
0.00001
|
|
NM_147127.5(EVC2):c.681G>A (p.Gln227=)
|
rs997848448
|
0.00001
|
|
NM_147127.5(EVC2):c.706+13C>T
|
rs371526145
|
0.00001
|
|
NM_147127.5(EVC2):c.707-5C>T
|
rs781300676
|
0.00001
|
|
NM_147127.5(EVC2):c.707-8C>G
|
rs746187089
|
0.00001
|
|
NM_147127.5(EVC2):c.741G>A (p.Thr247=)
|
rs772821703
|
0.00001
|
|
NM_147127.5(EVC2):c.759C>T (p.Leu253=)
|
rs746241303
|
0.00001
|
|
NM_147127.5(EVC2):c.78G>A (p.Gly26=)
|
rs1472845952
|
0.00001
|
|
NM_147127.5(EVC2):c.798C>G (p.Thr266=)
|
rs1217997624
|
0.00001
|
|
NM_147127.5(EVC2):c.855A>G (p.Ala285=)
|
rs1277622681
|
0.00001
|
|
NM_147127.5(EVC2):c.870+9C>T
|
rs749270873
|
0.00001
|
|
NM_147127.5(EVC2):c.871-5C>T
|
rs745871266
|
0.00001
|
|
NM_147127.5(EVC2):c.900A>G (p.Ala300=)
|
rs1049760300
|
0.00001
|
|
NM_147127.5(EVC2):c.918C>T (p.Phe306=)
|
rs1382381005
|
0.00001
|
|
NM_147127.5(EVC2):c.921C>T (p.Leu307=)
|
rs1243167455
|
0.00001
|
|
NM_147127.5(EVC2):c.9C>T (p.Pro3=)
|
rs573858756
|
0.00001
|
|
NM_153717.3(EVC):c.100C>T (p.Leu34=)
|
rs1577297567
|
0.00001
|
|
NM_153717.3(EVC):c.1089G>T (p.Leu363=)
|
rs773566770
|
0.00001
|
|
NM_153717.3(EVC):c.1098+9G>A
|
rs1729682283
|
0.00001
|
|
NM_153717.3(EVC):c.1101C>T (p.Asp367=)
|
rs186537549
|
0.00001
|
|
NM_153717.3(EVC):c.1125G>A (p.Arg375=)
|
rs372787652
|
0.00001
|
|
NM_153717.3(EVC):c.1149G>A (p.Glu383=)
|
rs1577439692
|
0.00001
|
|
NM_153717.3(EVC):c.117C>T (p.Gly39=)
|
rs1424931005
|
0.00001
|
|
NM_153717.3(EVC):c.1188G>A (p.Arg396=)
|
rs367659093
|
0.00001
|
|
NM_153717.3(EVC):c.1236G>A (p.Lys412=)
|
rs1730618149
|
0.00001
|
|
NM_153717.3(EVC):c.1315+7C>T
|
rs1252318929
|
0.00001
|
|
NM_153717.3(EVC):c.1315+8G>A
|
rs550411377
|
0.00001
|
|
NM_153717.3(EVC):c.1323C>T (p.Val441=)
|
rs201393812
|
0.00001
|
|
NM_153717.3(EVC):c.1461C>T (p.Leu487=)
|
rs1414243707
|
0.00001
|
|
NM_153717.3(EVC):c.1479C>G (p.Val493=)
|
rs751325286
|
0.00001
|
|
NM_153717.3(EVC):c.1560C>T (p.Cys520=)
|
rs764798059
|
0.00001
|
|
NM_153717.3(EVC):c.1563+8G>C
|
rs896046510
|
0.00001
|
|
NM_153717.3(EVC):c.1564-7G>A
|
rs201739032
|
0.00001
|
|
NM_153717.3(EVC):c.1602C>T (p.Phe534=)
|
rs766294209
|
0.00001
|
|
NM_153717.3(EVC):c.1647C>T (p.Leu549=)
|
rs756674302
|
0.00001
|
|
NM_153717.3(EVC):c.1650C>T (p.Pro550=)
|
rs1187336928
|
0.00001
|
|
NM_153717.3(EVC):c.1698C>T (p.Ala566=)
|
rs911132556
|
0.00001
|
|
NM_153717.3(EVC):c.1764G>A (p.Glu588=)
|
rs1736003433
|
0.00001
|
|
NM_153717.3(EVC):c.1777-8G>A
|
rs760016211
|
0.00001
|
|
NM_153717.3(EVC):c.1794T>C (p.Cys598=)
|
rs1162334289
|
0.00001
|
|
NM_153717.3(EVC):c.1806C>T (p.Ser602=)
|
rs749141466
|
0.00001
|
|
NM_153717.3(EVC):c.1836C>T (p.His612=)
|
rs1318231575
|
0.00001
|
|
NM_153717.3(EVC):c.1839G>A (p.Glu613=)
|
rs1419257094
|
0.00001
|
|
NM_153717.3(EVC):c.1845C>A (p.Thr615=)
|
rs1398493743
|
0.00001
|
|
NM_153717.3(EVC):c.1878C>T (p.Leu626=)
|
rs375743004
|
0.00001
|
|
NM_153717.3(EVC):c.1886+10G>A
|
rs1194224970
|
0.00001
|
|
NM_153717.3(EVC):c.1911G>T (p.Gly637=)
|
rs746048526
|
0.00001
|
|
NM_153717.3(EVC):c.1924T>C (p.Leu642=)
|
rs1458268098
|
0.00001
|
|
NM_153717.3(EVC):c.1989G>C (p.Arg663=)
|
rs1289387183
|
0.00001
|
|
NM_153717.3(EVC):c.2007C>T (p.His669=)
|
rs1309166734
|
0.00001
|
|
NM_153717.3(EVC):c.2040G>A (p.Leu680=)
|
rs1490178041
|
0.00001
|
|
NM_153717.3(EVC):c.2058G>A (p.Gln686=)
|
rs747533747
|
0.00001
|
|
NM_153717.3(EVC):c.2070G>A (p.Glu690=)
|
rs1288478366
|
0.00001
|
|
NM_153717.3(EVC):c.2088C>T (p.Leu696=)
|
rs761661473
|
0.00001
|
|
NM_153717.3(EVC):c.2098-5C>T
|
rs747808287
|
0.00001
|
|
NM_153717.3(EVC):c.2103G>A (p.Ala701=)
|
rs766383397
|
0.00001
|
|
NM_153717.3(EVC):c.216T>C (p.Asn72=)
|
rs776973612
|
0.00001
|
|
NM_153717.3(EVC):c.2181C>T (p.Ala727=)
|
rs759398050
|
0.00001
|
|
NM_153717.3(EVC):c.2184G>A (p.Glu728=)
|
rs1387569961
|
0.00001
|
|
NM_153717.3(EVC):c.2226C>T (p.Cys742=)
|
rs1174341100
|
0.00001
|
|
NM_153717.3(EVC):c.2250G>A (p.Val750=)
|
rs1577624232
|
0.00001
|
|
NM_153717.3(EVC):c.2304+7A>G
|
rs1714452682
|
0.00001
|
|
NM_153717.3(EVC):c.2313G>A (p.Leu771=)
|
rs756905795
|
0.00001
|
|
NM_153717.3(EVC):c.234A>G (p.Glu78=)
|
rs754706204
|
0.00001
|
|
NM_153717.3(EVC):c.2358C>G (p.Val786=)
|
rs895641001
|
0.00001
|
|
NM_153717.3(EVC):c.2365C>T (p.Leu789=)
|
rs1448746006
|
0.00001
|
|
NM_153717.3(EVC):c.2376G>A (p.Ala792=)
|
rs1005244629
|
0.00001
|
|
NM_153717.3(EVC):c.2406G>A (p.Glu802=)
|
rs747188003
|
0.00001
|
|
NM_153717.3(EVC):c.2430G>A (p.Gln810=)
|
rs370999882
|
0.00001
|
|
NM_153717.3(EVC):c.2450-7G>T
|
rs769527486
|
0.00001
|
|
NM_153717.3(EVC):c.2520G>A (p.Thr840=)
|
rs187406722
|
0.00001
|
|
NM_153717.3(EVC):c.2562-5C>G
|
rs747812027
|
0.00001
|
|
NM_153717.3(EVC):c.2624A>T (p.His875Leu)
|
rs200403160
|
0.00001
|
|
NM_153717.3(EVC):c.2625C>T (p.His875=)
|
rs764729655
|
0.00001
|
|
NM_153717.3(EVC):c.2782+13dup
|
rs770549797
|
0.00001
|
|
NM_153717.3(EVC):c.2782+9C>T
|
rs768005359
|
0.00001
|
|
NM_153717.3(EVC):c.2783-18T>G
|
rs544186339
|
0.00001
|
|
NM_153717.3(EVC):c.2783-8C>T
|
rs905232607
|
0.00001
|
|
NM_153717.3(EVC):c.2790C>T (p.Pro930=)
|
rs747237758
|
0.00001
|
|
NM_153717.3(EVC):c.2949G>A (p.Lys983=)
|
rs760920720
|
0.00001
|
|
NM_153717.3(EVC):c.300+10G>C
|
rs765963247
|
0.00001
|
|
NM_153717.3(EVC):c.301-13C>T
|
rs1478477072
|
0.00001
|
|
NM_153717.3(EVC):c.301-5C>T
|
rs1162511331
|
0.00001
|
|
NM_153717.3(EVC):c.303A>G (p.Glu101=)
|
rs1001609281
|
0.00001
|
|
NM_153717.3(EVC):c.30C>T (p.Ser10=)
|
rs1250304907
|
0.00001
|
|
NM_153717.3(EVC):c.339C>T (p.Phe113=)
|
rs750461424
|
0.00001
|
|
NM_153717.3(EVC):c.343C>T (p.Leu115=)
|
rs755273705
|
0.00001
|
|
NM_153717.3(EVC):c.375G>A (p.Gln125=)
|
rs951334006
|
0.00001
|
|
NM_153717.3(EVC):c.384+9C>T
|
rs1726415422
|
0.00001
|
|
NM_153717.3(EVC):c.385-10G>A
|
rs766423757
|
0.00001
|
|
NM_153717.3(EVC):c.385-5C>T
|
rs897738878
|
0.00001
|
|
NM_153717.3(EVC):c.447A>G (p.Pro149=)
|
rs143250379
|
0.00001
|
|
NM_153717.3(EVC):c.450C>T (p.His150=)
|
rs760527698
|
0.00001
|
|
NM_153717.3(EVC):c.456G>A (p.Pro152=)
|
rs776773987
|
0.00001
|
|
NM_153717.3(EVC):c.510C>T (p.Asp170=)
|
rs757930422
|
0.00001
|
|
NM_153717.3(EVC):c.525A>G (p.Ser175=)
|
rs369785566
|
0.00001
|
|
NM_153717.3(EVC):c.57C>T (p.Asp19=)
|
rs1467149000
|
0.00001
|
|
NM_153717.3(EVC):c.582G>A (p.Arg194=)
|
rs200101865
|
0.00001
|
|
NM_153717.3(EVC):c.617+10G>T
|
rs1175798148
|
0.00001
|
|
NM_153717.3(EVC):c.624C>T (p.Asp208=)
|
rs187457187
|
0.00001
|
|
NM_153717.3(EVC):c.79C>T (p.Leu27=)
|
rs1723000600
|
0.00001
|
|
NM_153717.3(EVC):c.801+9T>C
|
rs775191328
|
0.00001
|
|
NM_153717.3(EVC):c.858G>A (p.Ser286=)
|
rs752988350
|
0.00001
|
|
NM_153717.3(EVC):c.876G>A (p.Glu292=)
|
rs902304992
|
0.00001
|
|
NM_153717.3(EVC):c.882C>T (p.Ile294=)
|
rs375414448
|
0.00001
|
|
NM_153717.3(EVC):c.885C>T (p.Thr295=)
|
rs1481146042
|
0.00001
|
|
NM_153717.3(EVC):c.888G>T (p.Leu296=)
|
rs998975965
|
0.00001
|
|
NM_153717.3(EVC):c.930A>C (p.Leu310=)
|
rs776792609
|
0.00001
|
|
NM_153717.3(EVC):c.940-9A>C
|
rs1241925243
|
0.00001
|
|
NM_153717.3(EVC):c.99G>A (p.Leu33=)
|
rs1723007488
|
0.00001
|
|
NM_173660.5(DOK7):c.100+18G>A
|
rs1361843879
|
0.00001
|
|
NM_173660.5(DOK7):c.1056C>T (p.Leu352=)
|
rs751252312
|
0.00001
|
|
NM_173660.5(DOK7):c.1092G>T (p.Arg364=)
|
rs767282152
|
0.00001
|
|
NM_173660.5(DOK7):c.109C>T (p.Leu37=)
|
rs1283794146
|
0.00001
|
|
NM_173660.5(DOK7):c.1158C>T (p.Cys386=)
|
rs770365337
|
0.00001
|
|
NM_173660.5(DOK7):c.1191G>C (p.Val397=)
|
rs781489489
|
0.00001
|
|
NM_173660.5(DOK7):c.1227C>T (p.Arg409=)
|
rs762828158
|
0.00001
|
|
NM_173660.5(DOK7):c.12G>A (p.Ala4=)
|
rs1202693776
|
0.00001
|
|
NM_173660.5(DOK7):c.1347G>A (p.Thr449=)
|
rs776624533
|
0.00001
|
|
NM_173660.5(DOK7):c.1360C>T (p.Leu454=)
|
rs1231920444
|
0.00001
|
|
NM_173660.5(DOK7):c.1401T>C (p.Pro467=)
|
rs764419050
|
0.00001
|
|
NM_173660.5(DOK7):c.1443C>T (p.His481=)
|
rs749462644
|
0.00001
|
|
NM_173660.5(DOK7):c.1446G>A (p.Ala482=)
|
rs773592493
|
0.00001
|
|
NM_173660.5(DOK7):c.1452A>G (p.Pro484=)
|
rs1462346774
|
0.00001
|
|
NM_173660.5(DOK7):c.1482C>T (p.Val494=)
|
rs771501211
|
0.00001
|
|
NM_173660.5(DOK7):c.193C>T (p.Leu65=)
|
rs546630800
|
0.00001
|
|
NM_173660.5(DOK7):c.408T>C (p.Asp136=)
|
rs1219485664
|
0.00001
|
|
NM_173660.5(DOK7):c.429C>T (p.Asp143=)
|
rs747023250
|
0.00001
|
|
NM_173660.5(DOK7):c.438G>C (p.Pro146=)
|
rs776760690
|
0.00001
|
|
NM_173660.5(DOK7):c.495C>T (p.Ser165=)
|
rs1405222108
|
0.00001
|
|
NM_173660.5(DOK7):c.579C>T (p.Ser193=)
|
rs766358840
|
0.00001
|
|
NM_173660.5(DOK7):c.663C>G (p.Pro221=)
|
rs914998338
|
0.00001
|
|
NM_173660.5(DOK7):c.666G>A (p.Pro222=)
|
rs756895721
|
0.00001
|
|
NM_173660.5(DOK7):c.675G>A (p.Ser225=)
|
rs780065823
|
0.00001
|
|
NM_173660.5(DOK7):c.759G>A (p.Arg253=)
|
rs759824901
|
0.00001
|
|
NM_173660.5(DOK7):c.762G>A (p.Pro254=)
|
rs763623892
|
0.00001
|
|
NM_173660.5(DOK7):c.772+9G>A
|
rs778823411
|
0.00001
|
|
NM_173660.5(DOK7):c.849A>G (p.Ala283=)
|
rs756234763
|
0.00001
|
|
NM_173660.5(DOK7):c.945A>C (p.Ser315=)
|
rs757723197
|
0.00001
|
|
NM_000079.4(CHRNA1):c.1002+10G>C
|
|
|
|
NM_000079.4(CHRNA1):c.1002+14C>G
|
|
|
|
NM_000079.4(CHRNA1):c.1002+14C>T
|
|
|
|
NM_000079.4(CHRNA1):c.1003-12T>A
|
rs771405347
|
|
|
NM_000079.4(CHRNA1):c.1003-12_1003-8del
|
rs1251304590
|
|
|
NM_000079.4(CHRNA1):c.1003-6T>C
|
|
|
|
NM_000079.4(CHRNA1):c.1003-8T>C
|
rs1683789605
|
|
|
NM_000079.4(CHRNA1):c.1003-9T>A
|
rs769523120
|
|
|
NM_000079.4(CHRNA1):c.1068G>A (p.Lys356=)
|
|
|
|
NM_000079.4(CHRNA1):c.1071A>G (p.Gln357=)
|
|
|
|
NM_000079.4(CHRNA1):c.1128G>T (p.Gly376=)
|
|
|
|
NM_000079.4(CHRNA1):c.1137C>T (p.Pro379=)
|
|
|
|
NM_000079.4(CHRNA1):c.1170C>G (p.Pro390=)
|
rs141280544
|
|
|
NM_000079.4(CHRNA1):c.1170C>T (p.Pro390=)
|
|
|
|
NM_000079.4(CHRNA1):c.118C>A (p.Arg40=)
|
rs774423842
|
|
|
NM_000079.4(CHRNA1):c.1194C>A (p.Gly398=)
|
rs1683784412
|
|
|
NM_000079.4(CHRNA1):c.1206C>A (p.Ile402=)
|
|
|
|
NM_000079.4(CHRNA1):c.1206C>T (p.Ile402=)
|
|
|
|
NM_000079.4(CHRNA1):c.1215C>A (p.Thr405=)
|
|
|
|
NM_000079.4(CHRNA1):c.1242+11T>A
|
|
|
|
NM_000079.4(CHRNA1):c.1242+17G>A
|
|
|
|
NM_000079.4(CHRNA1):c.1243-7C>T
|
|
|
|
NM_000079.4(CHRNA1):c.1245G>C (p.Ala415=)
|
|
|
|
NM_000079.4(CHRNA1):c.1248G>A (p.Ala416=)
|
rs17838545
|
|
|
NM_000079.4(CHRNA1):c.1248G>T (p.Ala416=)
|
|
|
|
NM_000079.4(CHRNA1):c.1263C>T (p.Tyr421=)
|
|
|
|
NM_000079.4(CHRNA1):c.1284C>T (p.His428=)
|
rs1173467478
|
|
|
NM_000079.4(CHRNA1):c.141G>A (p.Gln47=)
|
|
|
|
NM_000079.4(CHRNA1):c.189+7_189+8insCCT
|
rs1348568801
|
|
|
NM_000079.4(CHRNA1):c.18C>T (p.Leu6=)
|
|
|
|
NM_000079.4(CHRNA1):c.190-12T>A
|
|
|
|
NM_000079.4(CHRNA1):c.235-14G>A
|
|
|
|
NM_000079.4(CHRNA1):c.235-19T>C
|
rs1287601157
|
|
|
NM_000079.4(CHRNA1):c.235-20C>T
|
|
|
|
NM_000079.4(CHRNA1):c.235-8G>T
|
|
|
|
NM_000079.4(CHRNA1):c.235-9dup
|
rs1558913982
|
|
|
NM_000079.4(CHRNA1):c.279C>G (p.Gly93=)
|
|
|
|
NM_000079.4(CHRNA1):c.279C>T (p.Gly93=)
|
rs771749641
|
|
|
NM_000079.4(CHRNA1):c.303T>C (p.Pro101=)
|
rs2105350637
|
|
|
NM_000079.4(CHRNA1):c.344+14A>G
|
rs1458805086
|
|
|
NM_000079.4(CHRNA1):c.344+15T>C
|
|
|
|
NM_000079.4(CHRNA1):c.344+17G>C
|
|
|
|
NM_000079.4(CHRNA1):c.345-19T>A
|
rs572077048
|
|
|
NM_000079.4(CHRNA1):c.345-7del
|
|
|
|
NM_000079.4(CHRNA1):c.387C>T (p.Leu129=)
|
|
|
|
NM_000079.4(CHRNA1):c.399T>A (p.Thr133=)
|
rs1443518305
|
|
|
NM_000079.4(CHRNA1):c.411G>A (p.Thr137=)
|
|
|
|
NM_000079.4(CHRNA1):c.43+11G>A
|
|
|
|
NM_000079.4(CHRNA1):c.43+20G>T
|
|
|
|
NM_000079.4(CHRNA1):c.44-10G>T
|
rs2105352253
|
|
|
NM_000079.4(CHRNA1):c.44-9C>A
|
rs2105352249
|
|
|
NM_000079.4(CHRNA1):c.459C>T (p.Thr153=)
|
|
|
|
NM_000079.4(CHRNA1):c.510C>G (p.Thr170=)
|
|
|
|
NM_000079.4(CHRNA1):c.516C>T (p.Asp172=)
|
|
|
|
NM_000079.4(CHRNA1):c.540+16A>C
|
|
|
|
NM_000079.4(CHRNA1):c.540+17T>A
|
|
|
|
NM_000079.4(CHRNA1):c.541-12T>C
|
rs1193318305
|
|
|
NM_000079.4(CHRNA1):c.541-13C>T
|
|
|
|
NM_000079.4(CHRNA1):c.541-17del
|
|
|
|
NM_000079.4(CHRNA1):c.561G>A (p.Leu187=)
|
|
|
|
NM_000079.4(CHRNA1):c.561G>C (p.Leu187=)
|
|
|
|
NM_000079.4(CHRNA1):c.585G>A (p.Glu195=)
|
|
|
|
NM_000079.4(CHRNA1):c.591G>A (p.Val197=)
|
|
|
|
NM_000079.4(CHRNA1):c.600G>A (p.Glu200=)
|
rs2105347898
|
|
|
NM_000079.4(CHRNA1):c.639C>T (p.Cys213=)
|
rs1574006599
|
|
|
NM_000079.4(CHRNA1):c.648C>G (p.Thr216=)
|
rs759534966
|
|
|
NM_000079.4(CHRNA1):c.648C>T (p.Thr216=)
|
rs759534966
|
|
|
NM_000079.4(CHRNA1):c.654C>T (p.Tyr218=)
|
|
|
|
NM_000079.4(CHRNA1):c.672C>T (p.His224=)
|
rs1574006465
|
|
|
NM_000079.4(CHRNA1):c.708C>T (p.Val236=)
|
|
|
|
NM_000079.4(CHRNA1):c.717C>T (p.Ile239=)
|
|
|
|
NM_000079.4(CHRNA1):c.75C>T (p.Thr25=)
|
|
|
|
NM_000079.4(CHRNA1):c.795G>A (p.Leu265=)
|
|
|
|
NM_000079.4(CHRNA1):c.813G>C (p.Leu271=)
|
rs374093236
|
|
|
NM_000079.4(CHRNA1):c.828C>T (p.Phe276=)
|
rs1683818752
|
|
|
NM_000079.4(CHRNA1):c.876C>A (p.Pro292=)
|
|
|
|
NM_000079.4(CHRNA1):c.954A>C (p.Thr318=)
|
|
|
|
NM_000135.4(FANCA):c.1000C>T (p.Leu334=)
|
rs1405549284
|
|
|
NM_000135.4(FANCA):c.1006+10G>C
|
|
|
|
NM_000135.4(FANCA):c.1006+10G>T
|
rs762536802
|
|
|
NM_000135.4(FANCA):c.1006+11TG[3]
|
|
|
|
NM_000135.4(FANCA):c.1006+14G>C
|
|
|
|
NM_000135.4(FANCA):c.1006+19C>G
|
|
|
|
NM_000135.4(FANCA):c.1007-10C>A
|
rs2040111171
|
|
|
NM_000135.4(FANCA):c.1007-10C>T
|
rs2040111171
|
|
|
NM_000135.4(FANCA):c.1007-13T>G
|
|
|
|
NM_000135.4(FANCA):c.1007-16G>C
|
|
|
|
NM_000135.4(FANCA):c.1007-16_1007-15del
|
|
|
|
NM_000135.4(FANCA):c.1007-18_1007-15del
|
|
|
|
NM_000135.4(FANCA):c.1007-20G>A
|
|
|
|
NM_000135.4(FANCA):c.1007-5T>C
|
|
|
|
NM_000135.4(FANCA):c.1007-6C>G
|
rs770125368
|
|
|
NM_000135.4(FANCA):c.1007-7C>T
|
|
|
|
NM_000135.4(FANCA):c.1007-9C>T
|
|
|
|
NM_000135.4(FANCA):c.1014T>C (p.Asp338=)
|
|
|
|
NM_000135.4(FANCA):c.1017T>C (p.Ala339=)
|
|
|
|
NM_000135.4(FANCA):c.1023G>A (p.Gln341=)
|
rs2143534746
|
|
|
NM_000135.4(FANCA):c.1029G>A (p.Gln343=)
|
rs779989777
|
|
|
NM_000135.4(FANCA):c.1035G>A (p.Glu345=)
|
rs1044759612
|
|
|
NM_000135.4(FANCA):c.1041C>T (p.Ser347=)
|
|
|
|
NM_000135.4(FANCA):c.1047G>T (p.Ala349=)
|
|
|
|
NM_000135.4(FANCA):c.1050G>A (p.Arg350=)
|
|
|
|
NM_000135.4(FANCA):c.1059T>A (p.Pro353=)
|
rs563820871
|
|
|
NM_000135.4(FANCA):c.1062G>C (p.Leu354=)
|
|
|
|
NM_000135.4(FANCA):c.1065C>A (p.Leu355=)
|
|
|
|
NM_000135.4(FANCA):c.1065C>G (p.Leu355=)
|
|
|
|
NM_000135.4(FANCA):c.1065C>T (p.Leu355=)
|
rs373366147
|
|
|
NM_000135.4(FANCA):c.1068C>A (p.Thr356=)
|
rs1161525939
|
|
|
NM_000135.4(FANCA):c.1068C>T (p.Thr356=)
|
rs1161525939
|
|
|
NM_000135.4(FANCA):c.1071A>G (p.Ser357=)
|
rs1249860808
|
|
|
NM_000135.4(FANCA):c.1072C>T (p.Leu358=)
|
rs748337423
|
|
|
NM_000135.4(FANCA):c.1076A>G (p.Tyr359Cys)
|
|
|
|
NM_000135.4(FANCA):c.1080C>A (p.Arg360=)
|
|
|
|
NM_000135.4(FANCA):c.1080C>T (p.Arg360=)
|
|
|
|
NM_000135.4(FANCA):c.1083+14G>C
|
rs2143534130
|
|
|
NM_000135.4(FANCA):c.1083+17T>C
|
|
|
|
NM_000135.4(FANCA):c.1083+18T>C
|
|
|
|
NM_000135.4(FANCA):c.1083+20T>C
|
|
|
|
NM_000135.4(FANCA):c.1083+8G>C
|
|
|
|
NM_000135.4(FANCA):c.1083+8del
|
|
|
|
NM_000135.4(FANCA):c.1083+9A>T
|
rs1312747816
|
|
|
NM_000135.4(FANCA):c.1084-10T>C
|
rs369884743
|
|
|
NM_000135.4(FANCA):c.1084-11T>G
|
|
|
|
NM_000135.4(FANCA):c.1084-13G>A
|
rs2143531033
|
|
|
NM_000135.4(FANCA):c.1084-14T>C
|
rs1267858023
|
|
|
NM_000135.4(FANCA):c.1084-16G>T
|
|
|
|
NM_000135.4(FANCA):c.1084-17G>A
|
|
|
|
NM_000135.4(FANCA):c.1084-19G>C
|
|
|
|
NM_000135.4(FANCA):c.1084-7del
|
rs780878272
|
|
|
NM_000135.4(FANCA):c.1084-8T>G
|
|
|
|
NM_000135.4(FANCA):c.1084-9T>C
|
|
|
|
NM_000135.4(FANCA):c.1086C>T (p.Leu362=)
|
rs2143530829
|
|
|
NM_000135.4(FANCA):c.1089T>C (p.Phe363=)
|
rs2143530797
|
|
|
NM_000135.4(FANCA):c.1096C>T (p.Leu366=)
|
|
|
|
NM_000135.4(FANCA):c.1098G>A (p.Leu366=)
|
|
|
|
NM_000135.4(FANCA):c.1098G>T (p.Leu366=)
|
rs1598152908
|
|
|
NM_000135.4(FANCA):c.1101T>C (p.Ser367=)
|
|
|
|
NM_000135.4(FANCA):c.1119C>G (p.Gly373=)
|
|
|
|
NM_000135.4(FANCA):c.1122T>C (p.His374=)
|
rs2143530454
|
|
|
NM_000135.4(FANCA):c.1123T>C (p.Leu375=)
|
rs2040093515
|
|
|
NM_000135.4(FANCA):c.1135C>T (p.Leu379=)
|
rs969577700
|
|
|
NM_000135.4(FANCA):c.1140A>G (p.Glu380=)
|
rs2143530276
|
|
|
NM_000135.4(FANCA):c.1143G>A (p.Thr381=)
|
rs1800331
|
|
|
NM_000135.4(FANCA):c.1146G>A (p.Gln382=)
|
rs781015145
|
|
|
NM_000135.4(FANCA):c.1149G>A (p.Glu383=)
|
|
|
|
NM_000135.4(FANCA):c.1152T>G (p.Val384=)
|
|
|
|
NM_000135.4(FANCA):c.1155C>T (p.His385=)
|
|
|
|
NM_000135.4(FANCA):c.1167G>A (p.Val389=)
|
|
|
|
NM_000135.4(FANCA):c.1170C>G (p.Leu390=)
|
rs2143529917
|
|
|
NM_000135.4(FANCA):c.1170C>T (p.Leu390=)
|
|
|
|
NM_000135.4(FANCA):c.1173C>G (p.Ser391=)
|
rs2040091412
|
|
|
NM_000135.4(FANCA):c.1173C>T (p.Ser391=)
|
rs2040091412
|
|
|
NM_000135.4(FANCA):c.1179G>C (p.Val393=)
|
|
|
|
NM_000135.4(FANCA):c.1185C>G (p.Ala395=)
|
rs2143529838
|
|
|
NM_000135.4(FANCA):c.1186C>T (p.Leu396=)
|
|
|
|
NM_000135.4(FANCA):c.1188G>A (p.Leu396=)
|
|
|
|
NM_000135.4(FANCA):c.1194C>G (p.Val398=)
|
rs1158857420
|
|
|
NM_000135.4(FANCA):c.1209G>T (p.Ala403=)
|
|
|
|
NM_000135.4(FANCA):c.1216C>T (p.Leu406=)
|
|
|
|
NM_000135.4(FANCA):c.1218G>A (p.Leu406=)
|
rs2040090132
|
|
|
NM_000135.4(FANCA):c.1221T>C (p.Leu407=)
|
rs780963734
|
|
|
NM_000135.4(FANCA):c.1225+13G>A
|
rs201201281
|
|
|
NM_000135.4(FANCA):c.1225+13G>C
|
rs201201281
|
|
|
NM_000135.4(FANCA):c.1225+15G>A
|
|
|
|
NM_000135.4(FANCA):c.1225+17G>A
|
|
|
|
NM_000135.4(FANCA):c.1225+17G>C
|
|
|
|
NM_000135.4(FANCA):c.1225+20C>A
|
rs199534742
|
|
|
NM_000135.4(FANCA):c.1225+20C>G
|
|
|
|
NM_000135.4(FANCA):c.1225+20del
|
rs2143529337
|
|
|
NM_000135.4(FANCA):c.1225+7_1225+15del
|
rs2143529419
|
|
|
NM_000135.4(FANCA):c.1226-18G>C
|
|
|
|
NM_000135.4(FANCA):c.1226-6A>C
|
rs200953509
|
|
|
NM_000135.4(FANCA):c.1226-6A>G
|
|
|
|
NM_000135.4(FANCA):c.1227C>T (p.Asp409=)
|
rs139944072
|
|
|
NM_000135.4(FANCA):c.123G>A (p.Gln41=)
|
|
|
|
NM_000135.4(FANCA):c.1266C>T (p.Cys422=)
|
|
|
|
NM_000135.4(FANCA):c.1269G>A (p.Gln423=)
|
|
|
|
NM_000135.4(FANCA):c.126A>G (p.Lys42=)
|
|
|
|
NM_000135.4(FANCA):c.1275C>T (p.Asp425=)
|
|
|
|
NM_000135.4(FANCA):c.1278C>T (p.Ser426=)
|
|
|
|
NM_000135.4(FANCA):c.1290G>T (p.Ala430=)
|
rs1800332
|
|
|
NM_000135.4(FANCA):c.1294C>T (p.Leu432=)
|
rs1232228823
|
|
|
NM_000135.4(FANCA):c.1296G>A (p.Leu432=)
|
|
|
|
NM_000135.4(FANCA):c.1296G>C (p.Leu432=)
|
|
|
|
NM_000135.4(FANCA):c.129A>G (p.Leu43=)
|
rs902594434
|
|
|
NM_000135.4(FANCA):c.12G>A (p.Ser4=)
|
rs1009539881
|
|
|
NM_000135.4(FANCA):c.12G>T (p.Ser4=)
|
rs1009539881
|
|
|
NM_000135.4(FANCA):c.1311A>G (p.Ala437=)
|
rs2143525993
|
|
|
NM_000135.4(FANCA):c.1314A>C (p.Ala438=)
|
|
|
|
NM_000135.4(FANCA):c.1314A>T (p.Ala438=)
|
rs2143525963
|
|
|
NM_000135.4(FANCA):c.1323C>A (p.Gly441=)
|
|
|
|
NM_000135.4(FANCA):c.1323C>T (p.Gly441=)
|
rs1377621197
|
|
|
NM_000135.4(FANCA):c.1326C>G (p.Pro442=)
|
|
|
|
NM_000135.4(FANCA):c.1326C>T (p.Pro442=)
|
|
|
|
NM_000135.4(FANCA):c.132G>A (p.Lys44=)
|
rs200428379
|
|
|
NM_000135.4(FANCA):c.1332G>T (p.Ala444=)
|
rs377705748
|
|
|
NM_000135.4(FANCA):c.1335C>T (p.Phe445=)
|
|
|
|
NM_000135.4(FANCA):c.1336C>T (p.Leu446=)
|
|
|
|
NM_000135.4(FANCA):c.1338G>T (p.Leu446=)
|
|
|
|
NM_000135.4(FANCA):c.1341A>G (p.Ser447=)
|
rs895188167
|
|
|
NM_000135.4(FANCA):c.1356C>T (p.Phe452=)
|
|
|
|
NM_000135.4(FANCA):c.1359+10C>G
|
rs34159559
|
|
|
NM_000135.4(FANCA):c.1359+12G>A
|
|
|
|
NM_000135.4(FANCA):c.1359+14del
|
rs2143525386
|
|
|
NM_000135.4(FANCA):c.1359+16A>T
|
rs200016746
|
|
|
NM_000135.4(FANCA):c.1359+18C>T
|
|
|
|
NM_000135.4(FANCA):c.1359+19G>A
|
|
|
|
NM_000135.4(FANCA):c.1359+20G>T
|
|
|
|
NM_000135.4(FANCA):c.1359+7G>A
|
rs749311482
|
|
|
NM_000135.4(FANCA):c.1359+8A>G
|
|
|
|
NM_000135.4(FANCA):c.1359+9C>A
|
rs375487246
|
|
|
NM_000135.4(FANCA):c.1359+9C>T
|
rs375487246
|
|
|
NM_000135.4(FANCA):c.1360-10C>T
|
|
|
|
NM_000135.4(FANCA):c.1360-13T>A
|
|
|
|
NM_000135.4(FANCA):c.1360-13TC[2]
|
rs1598140813
|
|
|
NM_000135.4(FANCA):c.1360-17C>T
|
|
|
|
NM_000135.4(FANCA):c.1360-18G>C
|
|
|
|
NM_000135.4(FANCA):c.1360-4A>G
|
rs746911316
|
|
|
NM_000135.4(FANCA):c.1360-5C>T
|
rs2143477318
|
|
|
NM_000135.4(FANCA):c.1360-8C>T
|
rs1407800718
|
|
|
NM_000135.4(FANCA):c.1371G>A (p.Gly457=)
|
rs369988875
|
|
|
NM_000135.4(FANCA):c.1374C>T (p.Ser458=)
|
|
|
|
NM_000135.4(FANCA):c.1378C>A (p.Arg460=)
|
rs1438828232
|
|
|
NM_000135.4(FANCA):c.1380A>T (p.Arg460=)
|
|
|
|
NM_000135.4(FANCA):c.1383C>T (p.Gly461=)
|
|
|
|
NM_000135.4(FANCA):c.1386C>T (p.Tyr462=)
|
rs2143477066
|
|
|
NM_000135.4(FANCA):c.1389T>C (p.His463=)
|
rs756913331
|
|
|
NM_000135.4(FANCA):c.1392C>A (p.Gly464=)
|
rs2143477008
|
|
|
NM_000135.4(FANCA):c.1392C>T (p.Gly464=)
|
rs2143477008
|
|
|
NM_000135.4(FANCA):c.1407C>T (p.Ala469=)
|
rs1325894062
|
|
|
NM_000135.4(FANCA):c.1410G>C (p.Leu470=)
|
rs2143476857
|
|
|
NM_000135.4(FANCA):c.1413C>A (p.Val471=)
|
|
|
|
NM_000135.4(FANCA):c.1413C>G (p.Val471=)
|
rs201561753
|
|
|
NM_000135.4(FANCA):c.1425G>C (p.Thr475=)
|
|
|
|
NM_000135.4(FANCA):c.1434A>C (p.Ser478=)
|
|
|
|
NM_000135.4(FANCA):c.1434A>G (p.Ser478=)
|
|
|
|
NM_000135.4(FANCA):c.1437A>G (p.Glu479=)
|
rs2143476678
|
|
|
NM_000135.4(FANCA):c.1440C>A (p.Leu480=)
|
|
|
|
NM_000135.4(FANCA):c.1440C>G (p.Leu480=)
|
rs1401053307
|
|
|
NM_000135.4(FANCA):c.1443G>A (p.Val481=)
|
|
|
|
NM_000135.4(FANCA):c.144G>A (p.Val48=)
|
rs2143723828
|
|
|
NM_000135.4(FANCA):c.1454C>A (p.Ser485Tyr)
|
|
|
|
NM_000135.4(FANCA):c.1461G>A (p.Arg487=)
|
rs770851522
|
|
|
NM_000135.4(FANCA):c.1461G>C (p.Arg487=)
|
rs770851522
|
|
|
NM_000135.4(FANCA):c.1465C>T (p.Leu489=)
|
|
|
|
NM_000135.4(FANCA):c.1470+13C>G
|
|
|
|
NM_000135.4(FANCA):c.1470+17C>T
|
rs2039843549
|
|
|
NM_000135.4(FANCA):c.1470+19C>T
|
|
|
|
NM_000135.4(FANCA):c.1470+7A>C
|
|
|
|
NM_000135.4(FANCA):c.1471-10C>G
|
rs368356709
|
|
|
NM_000135.4(FANCA):c.1471-12A>C
|
|
|
|
NM_000135.4(FANCA):c.1471-13TATC[3]
|
|
|
|
NM_000135.4(FANCA):c.1471-14C>G
|
rs764284226
|
|
|
NM_000135.4(FANCA):c.1471-15G>A
|
|
|
|
NM_000135.4(FANCA):c.1471-20G>C
|
rs374579239
|
|
|
NM_000135.4(FANCA):c.1471-20G>T
|
|
|
|
NM_000135.4(FANCA):c.1471-5C>T
|
rs1035775047
|
|
|
NM_000135.4(FANCA):c.1471-9T>C
|
rs990892001
|
|
|
NM_000135.4(FANCA):c.1471-9_1471-6del
|
rs1372488492
|
|
|
NM_000135.4(FANCA):c.1473G>T (p.Val491=)
|
|
|
|
NM_000135.4(FANCA):c.1476C>T (p.His492=)
|
|
|
|
NM_000135.4(FANCA):c.147C>G (p.Arg49=)
|
rs762962148
|
|
|
NM_000135.4(FANCA):c.147C>T (p.Arg49=)
|
rs762962148
|
|
|
NM_000135.4(FANCA):c.1482C>A (p.Leu494=)
|
|
|
|
NM_000135.4(FANCA):c.1482C>G (p.Leu494=)
|
rs1431996844
|
|
|
NM_000135.4(FANCA):c.1482C>T (p.Leu494=)
|
|
|
|
NM_000135.4(FANCA):c.1491C>G (p.Pro497=)
|
|
|
|
NM_000135.4(FANCA):c.1494G>A (p.Leu498=)
|
|
|
|
NM_000135.4(FANCA):c.1494G>C (p.Leu498=)
|
rs747718961
|
|
|
NM_000135.4(FANCA):c.1500_1501delinsTA (p.Gly501Ser)
|
rs1598136992
|
|
|
NM_000135.4(FANCA):c.1503C>G (p.Gly501=)
|
|
|
|
NM_000135.4(FANCA):c.1509C>T (p.Tyr503=)
|
rs1598136954
|
|
|
NM_000135.4(FANCA):c.150C>A (p.Leu50=)
|
|
|
|
NM_000135.4(FANCA):c.150C>G (p.Leu50=)
|
rs1322931574
|
|
|
NM_000135.4(FANCA):c.150C>T (p.Leu50=)
|
rs1322931574
|
|
|
NM_000135.4(FANCA):c.1515C>T (p.Ser505=)
|
|
|
|
NM_000135.4(FANCA):c.1518C>T (p.Leu506=)
|
rs781524409
|
|
|
NM_000135.4(FANCA):c.151C>T (p.Leu51=)
|
rs1287320584
|
|
|
NM_000135.4(FANCA):c.1530C>T (p.Tyr510=)
|
|
|
|
NM_000135.4(FANCA):c.153G>A (p.Leu51=)
|
rs76278570
|
|
|
NM_000135.4(FANCA):c.153G>T (p.Leu51=)
|
|
|
|
NM_000135.4(FANCA):c.1542C>G (p.Ala514=)
|
rs962460972
|
|
|
NM_000135.4(FANCA):c.1542C>T (p.Ala514=)
|
rs962460972
|
|
|
NM_000135.4(FANCA):c.1566+10C>A
|
rs774919321
|
|
|
NM_000135.4(FANCA):c.1566+10C>G
|
|
|
|
NM_000135.4(FANCA):c.1566+10C>T
|
rs774919321
|
|
|
NM_000135.4(FANCA):c.1566+12C>G
|
|
|
|
NM_000135.4(FANCA):c.1566+12_1566+15del
|
|
|
|
NM_000135.4(FANCA):c.1566+14C>T
|
|
|
|
NM_000135.4(FANCA):c.1566+15C>T
|
|
|
|
NM_000135.4(FANCA):c.1566+16A>G
|
|
|
|
NM_000135.4(FANCA):c.1566+19C>A
|
rs2143460183
|
|
|
NM_000135.4(FANCA):c.1566+20C>G
|
|
|
|
NM_000135.4(FANCA):c.1566+9T>G
|
rs1045659143
|
|
|
NM_000135.4(FANCA):c.1567-11C>G
|
|
|
|
NM_000135.4(FANCA):c.1567-13G>A
|
rs2143459544
|
|
|
NM_000135.4(FANCA):c.1567-13_1567-12del
|
|
|
|
NM_000135.4(FANCA):c.1567-15G>A
|
|
|
|
NM_000135.4(FANCA):c.1567-15_1567-10del
|
rs2143459500
|
|
|
NM_000135.4(FANCA):c.1567-16T>C
|
|
|
|
NM_000135.4(FANCA):c.1572T>C (p.Ser524=)
|
|
|
|
NM_000135.4(FANCA):c.1578A>G (p.Glu526=)
|
rs2143459307
|
|
|
NM_000135.4(FANCA):c.1581C>T (p.Asn527=)
|
rs1244511322
|
|
|
NM_000135.4(FANCA):c.1587A>G (p.Gly529=)
|
rs1300063021
|
|
|
NM_000135.4(FANCA):c.1596G>A (p.Glu532=)
|
|
|
|
NM_000135.4(FANCA):c.159C>T (p.Ser53=)
|
|
|
|
NM_000135.4(FANCA):c.1608A>G (p.Ser536=)
|
|
|
|
NM_000135.4(FANCA):c.1614G>C (p.Gly538=)
|
|
|
|
NM_000135.4(FANCA):c.1620T>C (p.Ile540=)
|
rs1200375986
|
|
|
NM_000135.4(FANCA):c.1626+14A>G
|
|
|
|
NM_000135.4(FANCA):c.1626+16C>A
|
rs1800333
|
|
|
NM_000135.4(FANCA):c.1626+17C>G
|
|
|
|
NM_000135.4(FANCA):c.1626+17C>T
|
rs777619836
|
|
|
NM_000135.4(FANCA):c.1626+18C>T
|
|
|
|
NM_000135.4(FANCA):c.1626+20G>A
|
|
|
|
NM_000135.4(FANCA):c.1626+8T>A
|
rs746097975
|
|
|
NM_000135.4(FANCA):c.1627-10T>C
|
|
|
|
NM_000135.4(FANCA):c.1627-11A>G
|
|
|
|
NM_000135.4(FANCA):c.1627-15C>G
|
|
|
|
NM_000135.4(FANCA):c.1627-16C>G
|
|
|
|
NM_000135.4(FANCA):c.1627-17C>G
|
|
|
|
NM_000135.4(FANCA):c.1627-17C>T
|
|
|
|
NM_000135.4(FANCA):c.1627-19C>T
|
rs2039645766
|
|
|
NM_000135.4(FANCA):c.1627-29_1627-8del
|
rs2143433096
|
|
|
NM_000135.4(FANCA):c.1627-4C>T
|
|
|
|
NM_000135.4(FANCA):c.1627-8G>T
|
|
|
|
NM_000135.4(FANCA):c.1629C>G (p.Pro543=)
|
rs2143433021
|
|
|
NM_000135.4(FANCA):c.1647G>A (p.Gln549=)
|
|
|
|
NM_000135.4(FANCA):c.1659G>A (p.Lys553=)
|
|
|
|
NM_000135.4(FANCA):c.1662C>T (p.Ala554=)
|
rs1235279691
|
|
|
NM_000135.4(FANCA):c.1665C>A (p.Ile555=)
|
rs757932868
|
|
|
NM_000135.4(FANCA):c.1671G>A (p.Val557=)
|
|
|
|
NM_000135.4(FANCA):c.1677G>A (p.Glu559=)
|
|
|
|
NM_000135.4(FANCA):c.1680T>C (p.His560=)
|
rs2143432638
|
|
|
NM_000135.4(FANCA):c.1683G>C (p.Thr561=)
|
|
|
|
NM_000135.4(FANCA):c.1686G>A (p.Gly562=)
|
rs1457207387
|
|
|
NM_000135.4(FANCA):c.1686G>T (p.Gly562=)
|
|
|
|
NM_000135.4(FANCA):c.168C>T (p.Asp56=)
|
|
|
|
NM_000135.4(FANCA):c.1698C>T (p.Val566=)
|
|
|
|
NM_000135.4(FANCA):c.16G>T (p.Val6Phe)
|
|
|
|
NM_000135.4(FANCA):c.1701C>A (p.Thr567=)
|
rs745466726
|
|
|
NM_000135.4(FANCA):c.1704C>G (p.Val568=)
|
rs914213734
|
|
|
NM_000135.4(FANCA):c.1704C>T (p.Val568=)
|
|
|
|
NM_000135.4(FANCA):c.1715+13G>T
|
|
|
|
NM_000135.4(FANCA):c.1715+14C>G
|
|
|
|
NM_000135.4(FANCA):c.1715+15C>A
|
rs755381554
|
|
|
NM_000135.4(FANCA):c.1715+7T>C
|
|
|
|
NM_000135.4(FANCA):c.1715+8G>A
|
rs1209332039
|
|
|
NM_000135.4(FANCA):c.1716-11C>G
|
|
|
|
NM_000135.4(FANCA):c.1716-13C>G
|
|
|
|
NM_000135.4(FANCA):c.1716-14T>C
|
|
|
|
NM_000135.4(FANCA):c.1716-16C>A
|
rs942124383
|
|
|
NM_000135.4(FANCA):c.1716-16C>T
|
rs942124383
|
|
|
NM_000135.4(FANCA):c.1716-18T>C
|
|
|
|
NM_000135.4(FANCA):c.1716-6_1716-5dup
|
|
|
|
NM_000135.4(FANCA):c.1716-7_1716-6del
|
rs1252205510
|
|
|
NM_000135.4(FANCA):c.1716-9G>A
|
|
|
|
NM_000135.4(FANCA):c.1716-9G>T
|
|
|
|
NM_000135.4(FANCA):c.1722C>T (p.Phe574=)
|
|
|
|
NM_000135.4(FANCA):c.1743C>T (p.Ser581=)
|
rs2039611416
|
|
|
NM_000135.4(FANCA):c.1746C>T (p.His582=)
|
|
|
|
NM_000135.4(FANCA):c.174T>C (p.Asn58=)
|
rs2143723506
|
|
|
NM_000135.4(FANCA):c.1752C>T (p.Leu584=)
|
rs2039611137
|
|
|
NM_000135.4(FANCA):c.1755C>A (p.Pro585=)
|
|
|
|
NM_000135.4(FANCA):c.1755C>T (p.Pro585=)
|
rs144704750
|
|
|
NM_000135.4(FANCA):c.1758C>A (p.Ala586=)
|
rs765437064
|
|
|
NM_000135.4(FANCA):c.1758C>T (p.Ala586=)
|
rs765437064
|
|
|
NM_000135.4(FANCA):c.1764C>T (p.Leu588=)
|
|
|
|
NM_000135.4(FANCA):c.1773A>C (p.Arg591=)
|
rs2143423976
|
|
|
NM_000135.4(FANCA):c.1776+13C>G
|
rs371272310
|
|
|
NM_000135.4(FANCA):c.1776+15C>G
|
rs376346254
|
|
|
NM_000135.4(FANCA):c.1776+15C>T
|
|
|
|
NM_000135.4(FANCA):c.1776+16C>T
|
|
|
|
NM_000135.4(FANCA):c.1776+8T>G
|
rs2143423903
|
|
|
NM_000135.4(FANCA):c.1776+9G>A
|
rs752878349
|
|
|
NM_000135.4(FANCA):c.1776+9G>C
|
rs752878349
|
|
|
NM_000135.4(FANCA):c.1777-10C>A
|
rs781605892
|
|
|
NM_000135.4(FANCA):c.1777-12C>G
|
|
|
|
NM_000135.4(FANCA):c.1777-13dup
|
|
|
|
NM_000135.4(FANCA):c.1777-15C>T
|
rs371919426
|
|
|
NM_000135.4(FANCA):c.1777-17C>G
|
|
|
|
NM_000135.4(FANCA):c.1777-19G>A
|
|
|
|
NM_000135.4(FANCA):c.1777-19G>C
|
|
|
|
NM_000135.4(FANCA):c.1777-7C>T
|
rs375148599
|
|
|
NM_000135.4(FANCA):c.1779C>A (p.Leu593=)
|
rs1016801509
|
|
|
NM_000135.4(FANCA):c.1779C>T (p.Leu593=)
|
rs1016801509
|
|
|
NM_000135.4(FANCA):c.177C>A (p.Ala59=)
|
rs1439661268
|
|
|
NM_000135.4(FANCA):c.1782C>T (p.Pro594=)
|
|
|
|
NM_000135.4(FANCA):c.1788C>G (p.Val596=)
|
|
|
|
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe)
|
rs562319781
|
|
|
NM_000135.4(FANCA):c.1797C>A (p.Ser599=)
|
rs2039605171
|
|
|
NM_000135.4(FANCA):c.1797C>T (p.Ser599=)
|
rs2039605171
|
|
|
NM_000135.4(FANCA):c.1806G>C (p.Ala602=)
|
rs550064744
|
|
|
NM_000135.4(FANCA):c.1806G>T (p.Ala602=)
|
rs550064744
|
|
|
NM_000135.4(FANCA):c.1809T>C (p.Phe603=)
|
rs1336095406
|
|
|
NM_000135.4(FANCA):c.1818T>C (p.Ser606=)
|
|
|
|
NM_000135.4(FANCA):c.1819C>T (p.Leu607=)
|
rs2143422308
|
|
|
NM_000135.4(FANCA):c.1821G>C (p.Leu607=)
|
rs2143422265
|
|
|
NM_000135.4(FANCA):c.1826+11A>G
|
|
|
|
NM_000135.4(FANCA):c.1826+12C>G
|
rs183513839
|
|
|
NM_000135.4(FANCA):c.1826+17A>G
|
|
|
|
NM_000135.4(FANCA):c.1826+17A>T
|
|
|
|
NM_000135.4(FANCA):c.1826+18G>T
|
|
|
|
NM_000135.4(FANCA):c.1826+20A>G
|
|
|
|
NM_000135.4(FANCA):c.1826+8G>A
|
|
|
|
NM_000135.4(FANCA):c.1826+9C>T
|
|
|
|
NM_000135.4(FANCA):c.1827-12C>G
|
|
|
|
NM_000135.4(FANCA):c.1827-12C>T
|
|
|
|
NM_000135.4(FANCA):c.1827-17G>C
|
|
|
|
NM_000135.4(FANCA):c.1827-20A>G
|
|
|
|
NM_000135.4(FANCA):c.1827-4C>A
|
rs775772634
|
|
|
NM_000135.4(FANCA):c.1827-4C>G
|
rs775772634
|
|
|
NM_000135.4(FANCA):c.1827-5T>A
|
rs1378971647
|
|
|
NM_000135.4(FANCA):c.1827-9G>A
|
rs2143393607
|
|
|
NM_000135.4(FANCA):c.1839C>A (p.Ile613=)
|
rs1598120925
|
|
|
NM_000135.4(FANCA):c.1839C>T (p.Ile613=)
|
rs1598120925
|
|
|
NM_000135.4(FANCA):c.183G>A (p.Leu61=)
|
rs1447656431
|
|
|
NM_000135.4(FANCA):c.1842C>T (p.Pro614=)
|
rs769546891
|
|
|
NM_000135.4(FANCA):c.1845A>G (p.Pro615=)
|
rs1490141721
|
|
|
NM_000135.4(FANCA):c.1849C>T (p.Leu617=)
|
rs2143393232
|
|
|
NM_000135.4(FANCA):c.1851G>A (p.Leu617=)
|
|
|
|
NM_000135.4(FANCA):c.1851G>C (p.Leu617=)
|
rs2143393205
|
|
|
NM_000135.4(FANCA):c.1854C>T (p.Tyr618=)
|
rs747994845
|
|
|
NM_000135.4(FANCA):c.1857C>A (p.Ser619=)
|
|
|
|
NM_000135.4(FANCA):c.1860C>G (p.Thr620=)
|
|
|
|
NM_000135.4(FANCA):c.1863C>T (p.Tyr621=)
|
|
|
|
NM_000135.4(FANCA):c.1869G>A (p.Gln623=)
|
|
|
|
NM_000135.4(FANCA):c.1872C>T (p.Ala624=)
|
rs571449307
|
|
|
NM_000135.4(FANCA):c.1875C>T (p.Cys625=)
|
|
|
|
NM_000135.4(FANCA):c.189+10A>G
|
|
|
|
NM_000135.4(FANCA):c.189+12C>T
|
|
|
|
NM_000135.4(FANCA):c.189+14G>A
|
|
|
|
NM_000135.4(FANCA):c.189+14G>T
|
|
|
|
NM_000135.4(FANCA):c.189+15G>C
|
|
|
|
NM_000135.4(FANCA):c.189+17G>T
|
|
|
|
NM_000135.4(FANCA):c.189+19C>T
|
|
|
|
NM_000135.4(FANCA):c.189+20C>A
|
|
|
|
NM_000135.4(FANCA):c.189+8G>A
|
rs2143723236
|
|
|
NM_000135.4(FANCA):c.18C>A (p.Val6=)
|
|
|
|
NM_000135.4(FANCA):c.190-14G>A
|
|
|
|
NM_000135.4(FANCA):c.190-18T>C
|
|
|
|
NM_000135.4(FANCA):c.190-5T>C
|
rs368486303
|
|
|
NM_000135.4(FANCA):c.190-7A>G
|
|
|
|
NM_000135.4(FANCA):c.190-7A>T
|
rs994179410
|
|
|
NM_000135.4(FANCA):c.190-8G>C
|
rs2143711952
|
|
|
NM_000135.4(FANCA):c.1900+10T>C
|
rs1225612280
|
|
|
NM_000135.4(FANCA):c.1900+12G>A
|
|
|
|
NM_000135.4(FANCA):c.1900+13G>A
|
|
|
|
NM_000135.4(FANCA):c.1900+14C>T
|
|
|
|
NM_000135.4(FANCA):c.1900+15C>T
|
|
|
|
NM_000135.4(FANCA):c.1900+20G>T
|
|
|
|
NM_000135.4(FANCA):c.1900+7T>C
|
rs377401016
|
|
|
NM_000135.4(FANCA):c.1900+8C>G
|
|
|
|
NM_000135.4(FANCA):c.1900+8C>T
|
|
|
|
NM_000135.4(FANCA):c.1901-13C>G
|
|
|
|
NM_000135.4(FANCA):c.1901-14C>A
|
|
|
|
NM_000135.4(FANCA):c.1901-17C>T
|
rs373785724
|
|
|
NM_000135.4(FANCA):c.1901-3C>A
|
rs17226526
|
|
|
NM_000135.4(FANCA):c.1901-5C>G
|
rs1060504375
|
|
|
NM_000135.4(FANCA):c.1901-7C>G
|
rs1449605030
|
|
|
NM_000135.4(FANCA):c.1901-7C>T
|
|
|
|
NM_000135.4(FANCA):c.1901-7_1901-5del
|
rs2143367972
|
|
|
NM_000135.4(FANCA):c.1901-8_1901-6del
|
rs1263015757
|
|
|
NM_000135.4(FANCA):c.1901-9T>G
|
rs886052486
|
|
|
NM_000135.4(FANCA):c.1911G>A (p.Leu637=)
|
rs914305609
|
|
|
NM_000135.4(FANCA):c.1920G>A (p.Arg640=)
|
rs2039390557
|
|
|
NM_000135.4(FANCA):c.1923A>C (p.Ala641=)
|
rs2143367561
|
|
|
NM_000135.4(FANCA):c.1923A>G (p.Ala641=)
|
|
|
|
NM_000135.4(FANCA):c.1926A>G (p.Glu642=)
|
rs2039390337
|
|
|
NM_000135.4(FANCA):c.192A>G (p.Val64=)
|
|
|
|
NM_000135.4(FANCA):c.1932C>T (p.Asn644=)
|
rs1598116392
|
|
|
NM_000135.4(FANCA):c.1935T>C (p.Ser645=)
|
rs2143367365
|
|
|
NM_000135.4(FANCA):c.1935T>G (p.Ser645=)
|
rs2143367365
|
|
|
NM_000135.4(FANCA):c.1947C>T (p.Pro649=)
|
|
|
|
NM_000135.4(FANCA):c.1950G>A (p.Leu650=)
|
|
|
|
NM_000135.4(FANCA):c.1950G>T (p.Leu650=)
|
|
|
|
NM_000135.4(FANCA):c.1959C>A (p.Leu653=)
|
rs368643963
|
|
|
NM_000135.4(FANCA):c.1962A>C (p.Thr654=)
|
|
|
|
NM_000135.4(FANCA):c.1968A>C (p.Ala656=)
|
|
|
|
NM_000135.4(FANCA):c.1971G>T (p.Leu657=)
|
rs1343452026
|
|
|
NM_000135.4(FANCA):c.1978C>T (p.Leu660=)
|
|
|
|
NM_000135.4(FANCA):c.1980G>T (p.Leu660=)
|
|
|
|
NM_000135.4(FANCA):c.1986C>A (p.Ala662=)
|
rs568935135
|
|
|
NM_000135.4(FANCA):c.1986C>G (p.Ala662=)
|
rs568935135
|
|
|
NM_000135.4(FANCA):c.1989C>T (p.Ser663=)
|
|
|
|
NM_000135.4(FANCA):c.1998C>T (p.Asp666=)
|
|
|
|
NM_000135.4(FANCA):c.1999C>G (p.Pro667Ala)
|
rs147300317
|
|
|
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)
|
rs780667753
|
|
|
NM_000135.4(FANCA):c.2001C>T (p.Pro667=)
|
|
|
|
NM_000135.4(FANCA):c.2010T>G (p.Arg670=)
|
|
|
|
NM_000135.4(FANCA):c.2014+10G>A
|
|
|
|
NM_000135.4(FANCA):c.2014+10G>T
|
rs1567620967
|
|
|
NM_000135.4(FANCA):c.2014+11A>T
|
|
|
|
NM_000135.4(FANCA):c.2014+16_2014+27del
|
|
|
|
NM_000135.4(FANCA):c.2014+18C>T
|
rs758580921
|
|
|
NM_000135.4(FANCA):c.2014+20C>G
|
rs376320049
|
|
|
NM_000135.4(FANCA):c.2014+20C>T
|
|
|
|
NM_000135.4(FANCA):c.2014+7A>G
|
|
|
|
NM_000135.4(FANCA):c.2015-16G>C
|
rs2039337410
|
|
|
NM_000135.4(FANCA):c.2015-20_2015-17del
|
|
|
|
NM_000135.4(FANCA):c.2015-4G>A
|
rs373954227
|
|
|
NM_000135.4(FANCA):c.2015-4G>C
|
|
|
|
NM_000135.4(FANCA):c.2015-4G>T
|
rs373954227
|
|
|
NM_000135.4(FANCA):c.2015-8C>G
|
|
|
|
NM_000135.4(FANCA):c.2015-9C>T
|
rs2143351892
|
|
|
NM_000135.4(FANCA):c.201A>C (p.Pro67=)
|
rs775320466
|
|
|
NM_000135.4(FANCA):c.201A>G (p.Pro67=)
|
rs775320466
|
|
|
NM_000135.4(FANCA):c.2028G>A (p.Gln676=)
|
rs2039336156
|
|
|
NM_000135.4(FANCA):c.202C>T (p.Leu68=)
|
rs767193138
|
|
|
NM_000135.4(FANCA):c.2034A>C (p.Ala678=)
|
rs2143351424
|
|
|
NM_000135.4(FANCA):c.2034A>G (p.Ala678=)
|
rs2143351424
|
|
|
NM_000135.4(FANCA):c.2043T>C (p.Ser681=)
|
|
|
|
NM_000135.4(FANCA):c.204G>A (p.Leu68=)
|
rs759150554
|
|
|
NM_000135.4(FANCA):c.2052G>T (p.Leu684=)
|
rs562025330
|
|
|
NM_000135.4(FANCA):c.2053A>C (p.Arg685=)
|
|
|
|
NM_000135.4(FANCA):c.2062C>T (p.Leu688=)
|
|
|
|
NM_000135.4(FANCA):c.2064G>C (p.Leu688=)
|
rs2143351022
|
|
|
NM_000135.4(FANCA):c.2067C>G (p.Gly689=)
|
rs2143350973
|
|
|
NM_000135.4(FANCA):c.2070C>T (p.His690=)
|
rs1422723344
|
|
|
NM_000135.4(FANCA):c.2082C>T (p.Asp694=)
|
|
|
|
NM_000135.4(FANCA):c.2091T>G (p.Val697=)
|
|
|
|
NM_000135.4(FANCA):c.2106T>A (p.Ile702=)
|
|
|
|
NM_000135.4(FANCA):c.2109G>A (p.Gln703=)
|
rs371458363
|
|
|
NM_000135.4(FANCA):c.2121C>T (p.Asn707=)
|
rs544923702
|
|
|
NM_000135.4(FANCA):c.2127G>A (p.Pro709=)
|
rs771226546
|
|
|
NM_000135.4(FANCA):c.2127G>C (p.Pro709=)
|
rs771226546
|
|
|
NM_000135.4(FANCA):c.2130A>G (p.Arg710=)
|
|
|
|
NM_000135.4(FANCA):c.2131C>T (p.Leu711=)
|
|
|
|
NM_000135.4(FANCA):c.2133G>A (p.Leu711=)
|
|
|
|
NM_000135.4(FANCA):c.2145A>G (p.Glu715=)
|
|
|
|
NM_000135.4(FANCA):c.2151+10G>A
|
rs2039329782
|
|
|
NM_000135.4(FANCA):c.2151+11G>T
|
|
|
|
NM_000135.4(FANCA):c.2151+16C>T
|
|
|
|
NM_000135.4(FANCA):c.2151+7G>A
|
rs2039330078
|
|
|
NM_000135.4(FANCA):c.2151+7_2151+8inv
|
|
|
|
NM_000135.4(FANCA):c.2151+8T>G
|
|
|
|
NM_000135.4(FANCA):c.2151+9del
|
rs1470258609
|
|
|
NM_000135.4(FANCA):c.2152-12G>A
|
|
|
|
NM_000135.4(FANCA):c.2152-15A>G
|
|
|
|
NM_000135.4(FANCA):c.2152-16A>T
|
|
|
|
NM_000135.4(FANCA):c.2152-19G>A
|
|
|
|
NM_000135.4(FANCA):c.2152-5T>C
|
|
|
|
NM_000135.4(FANCA):c.2152-6C>T
|
|
|
|
NM_000135.4(FANCA):c.2152-8C>G
|
rs1285658774
|
|
|
NM_000135.4(FANCA):c.2152-8C>T
|
rs1285658774
|
|
|
NM_000135.4(FANCA):c.2160C>T (p.Asp720=)
|
rs2143340191
|
|
|
NM_000135.4(FANCA):c.2164C>T (p.Leu722=)
|
|
|
|
NM_000135.4(FANCA):c.2169G>A (p.Leu723=)
|
|
|
|
NM_000135.4(FANCA):c.216G>A (p.Leu72=)
|
|
|
|
NM_000135.4(FANCA):c.2172G>A (p.Thr724=)
|
rs768851944
|
|
|
NM_000135.4(FANCA):c.2172G>T (p.Thr724=)
|
rs768851944
|
|
|
NM_000135.4(FANCA):c.2178C>T (p.Phe726=)
|
|
|
|
NM_000135.4(FANCA):c.2187C>T (p.Asn729=)
|
rs771833978
|
|
|
NM_000135.4(FANCA):c.2190G>C (p.Leu730=)
|
|
|
|
NM_000135.4(FANCA):c.2196T>A (p.Ala732=)
|
rs2143339914
|
|
|
NM_000135.4(FANCA):c.21G>A (p.Pro7=)
|
rs115856189
|
|
|
NM_000135.4(FANCA):c.21G>C (p.Pro7=)
|
rs115856189
|
|
|
NM_000135.4(FANCA):c.2202C>T (p.Ser734=)
|
|
|
|
NM_000135.4(FANCA):c.2205T>C (p.Ser735=)
|
rs2143339774
|
|
|
NM_000135.4(FANCA):c.2208C>T (p.Val736=)
|
rs755638734
|
|
|
NM_000135.4(FANCA):c.2211T>C (p.Ala737=)
|
|
|
|
NM_000135.4(FANCA):c.2214C>G (p.Pro738=)
|
|
|
|
NM_000135.4(FANCA):c.2217G>A (p.Pro739=)
|
|
|
|
NM_000135.4(FANCA):c.2217G>C (p.Pro739=)
|
rs764163027
|
|
|
NM_000135.4(FANCA):c.2222+11G>A
|
|
|
|
NM_000135.4(FANCA):c.2222+11G>C
|
|
|
|
NM_000135.4(FANCA):c.2222+11G>T
|
|
|
|
NM_000135.4(FANCA):c.2222+13G>C
|
rs2143339468
|
|
|
NM_000135.4(FANCA):c.2222+14C>A
|
rs368973617
|
|
|
NM_000135.4(FANCA):c.2222+16G>C
|
|
|
|
NM_000135.4(FANCA):c.2222+16G>T
|
|
|
|
NM_000135.4(FANCA):c.2222+19C>A
|
|
|
|
NM_000135.4(FANCA):c.2222+7dup
|
|
|
|
NM_000135.4(FANCA):c.2222+9G>A
|
rs774316742
|
|
|
NM_000135.4(FANCA):c.2223-13G>T
|
|
|
|
NM_000135.4(FANCA):c.2223-17C>T
|
|
|
|
NM_000135.4(FANCA):c.2223-6_2223-5del
|
|
|
|
NM_000135.4(FANCA):c.2223-7T>C
|
|
|
|
NM_000135.4(FANCA):c.2223-8C>G
|
rs1598110961
|
|
|
NM_000135.4(FANCA):c.2232C>T (p.Pro744=)
|
|
|
|
NM_000135.4(FANCA):c.2244C>G (p.Leu748=)
|
|
|
|
NM_000135.4(FANCA):c.2248G>A (p.Val750Met)
|
rs747723074
|
|
|
NM_000135.4(FANCA):c.2250G>C (p.Val750=)
|
|
|
|
NM_000135.4(FANCA):c.2253G>A (p.Arg751=)
|
rs1345505146
|
|
|
NM_000135.4(FANCA):c.2267G>A (p.Arg756His)
|
|
|
|
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)
|
rs137913973
|
|
|
NM_000135.4(FANCA):c.2268T>G (p.Arg756=)
|
rs2143336151
|
|
|
NM_000135.4(FANCA):c.2280A>G (p.Ala760=)
|
rs1598110765
|
|
|
NM_000135.4(FANCA):c.2283G>A (p.Val761=)
|
|
|
|
NM_000135.4(FANCA):c.2286C>T (p.Leu762=)
|
rs1419118181
|
|
|
NM_000135.4(FANCA):c.2289C>A (p.Thr763=)
|
rs2143335900
|
|
|
NM_000135.4(FANCA):c.2301G>A (p.Gln767=)
|
|
|
|
NM_000135.4(FANCA):c.2307C>A (p.Leu769=)
|
rs1226177820
|
|
|
NM_000135.4(FANCA):c.2307C>T (p.Leu769=)
|
|
|
|
NM_000135.4(FANCA):c.2316+13T>C
|
rs2143335460
|
|
|
NM_000135.4(FANCA):c.2316+16A>G
|
|
|
|
NM_000135.4(FANCA):c.2316+16A>T
|
rs779657463
|
|
|
NM_000135.4(FANCA):c.2316+17T>A
|
|
|
|
NM_000135.4(FANCA):c.2316+17T>C
|
|
|
|
NM_000135.4(FANCA):c.2316+18G>A
|
|
|
|
NM_000135.4(FANCA):c.2316+9C>T
|
rs776301232
|
|
|
NM_000135.4(FANCA):c.2317-10C>T
|
|
|
|
NM_000135.4(FANCA):c.2317-12T>A
|
|
|
|
NM_000135.4(FANCA):c.2317-13A>G
|
|
|
|
NM_000135.4(FANCA):c.2317-17C>A
|
|
|
|
NM_000135.4(FANCA):c.2317-19A>T
|
|
|
|
NM_000135.4(FANCA):c.2317-20C>T
|
|
|
|
NM_000135.4(FANCA):c.2317-4G>A
|
rs775272801
|
|
|
NM_000135.4(FANCA):c.2317-4G>C
|
|
|
|
NM_000135.4(FANCA):c.231G>A (p.Val77=)
|
|
|
|
NM_000135.4(FANCA):c.2325C>T (p.Ser775=)
|
rs545765795
|
|
|
NM_000135.4(FANCA):c.2331T>C (p.Ser777=)
|
rs2143333727
|
|
|
NM_000135.4(FANCA):c.2334C>T (p.Ala778=)
|
rs1308389715
|
|
|
NM_000135.4(FANCA):c.2337A>G (p.Pro779=)
|
|
|
|
NM_000135.4(FANCA):c.2343G>T (p.Val781=)
|
|
|
|
NM_000135.4(FANCA):c.2346G>T (p.Leu782=)
|
|
|
|
NM_000135.4(FANCA):c.2349G>C (p.Gly783=)
|
|
|
|
NM_000135.4(FANCA):c.234T>C (p.Ile78=)
|
rs2143711235
|
|
|
NM_000135.4(FANCA):c.2361G>C (p.Leu787=)
|
rs2143333278
|
|
|
NM_000135.4(FANCA):c.2364C>A (p.Ala788=)
|
rs149754397
|
|
|
NM_000135.4(FANCA):c.2370C>T (p.His790=)
|
rs753818673
|
|
|
NM_000135.4(FANCA):c.2382C>T (p.Ser794=)
|
rs1223394099
|
|
|
NM_000135.4(FANCA):c.2383A>C (p.Arg795=)
|
rs767455904
|
|
|
NM_000135.4(FANCA):c.2391G>T (p.Ala797=)
|
|
|
|
NM_000135.4(FANCA):c.2397A>G (p.Pro799=)
|
rs2143332878
|
|
|
NM_000135.4(FANCA):c.2403G>C (p.Val801=)
|
rs969366978
|
|
|
NM_000135.4(FANCA):c.2403G>T (p.Val801=)
|
|
|
|
NM_000135.4(FANCA):c.2406T>C (p.Asp802=)
|
rs2143332765
|
|
|
NM_000135.4(FANCA):c.2409G>C (p.Val803=)
|
rs1598110129
|
|
|
NM_000135.4(FANCA):c.2424T>A (p.Pro808=)
|
|
|
|
NM_000135.4(FANCA):c.2424T>C (p.Pro808=)
|
|
|
|
NM_000135.4(FANCA):c.2426_2427inv (p.Gly809Asp)
|
|
|
|
NM_000135.4(FANCA):c.2430T>A (p.Ala810=)
|
|
|
|
NM_000135.4(FANCA):c.2439T>G (p.Pro813=)
|
rs2143332287
|
|
|
NM_000135.4(FANCA):c.243C>T (p.Asp81=)
|
|
|
|
NM_000135.4(FANCA):c.2442C>T (p.Val814=)
|
|
|
|
NM_000135.4(FANCA):c.2445T>C (p.Pro815=)
|
rs1489533103
|
|
|
NM_000135.4(FANCA):c.2454T>C (p.Phe818=)
|
rs2143332088
|
|
|
NM_000135.4(FANCA):c.2457C>T (p.Asp819=)
|
rs1216645940
|
|
|
NM_000135.4(FANCA):c.2463C>G (p.Leu821=)
|
rs781019889
|
|
|
NM_000135.4(FANCA):c.2463C>T (p.Leu821=)
|
|
|
|
NM_000135.4(FANCA):c.2464C>T (p.Leu822=)
|
|
|
|
NM_000135.4(FANCA):c.2466G>A (p.Leu822=)
|
|
|
|
NM_000135.4(FANCA):c.2466G>T (p.Leu822=)
|
rs2143331866
|
|
|
NM_000135.4(FANCA):c.2469C>A (p.Thr823=)
|
|
|
|
NM_000135.4(FANCA):c.2472T>C (p.Cys824=)
|
rs2039261844
|
|
|
NM_000135.4(FANCA):c.2484T>C (p.Asp828=)
|
|
|
|
NM_000135.4(FANCA):c.2496C>T (p.Phe832=)
|
rs2039260982
|
|
|
NM_000135.4(FANCA):c.24C>T (p.Asn8=)
|
rs76275444
|
|
|
NM_000135.4(FANCA):c.2504+10T>C
|
rs770043372
|
|
|
NM_000135.4(FANCA):c.2504+11C>T
|
|
|
|
NM_000135.4(FANCA):c.2504+11_2504+12insCA
|
|
|
|
NM_000135.4(FANCA):c.2504+12_2504+14del
|
rs1023581563
|
|
|
NM_000135.4(FANCA):c.2504+16A>C
|
|
|
|
NM_000135.4(FANCA):c.2504+16A>G
|
|
|
|
NM_000135.4(FANCA):c.2504+17C>T
|
|
|
|
NM_000135.4(FANCA):c.2504+18del
|
|
|
|
NM_000135.4(FANCA):c.2504+7T>C
|
rs1212871121
|
|
|
NM_000135.4(FANCA):c.2504+8C>A
|
rs529177917
|
|
|
NM_000135.4(FANCA):c.2505-10C>G
|
rs1271668667
|
|
|
NM_000135.4(FANCA):c.2505-10_2505-9del
|
rs766900188
|
|
|
NM_000135.4(FANCA):c.2505-12T>G
|
|
|
|
NM_000135.4(FANCA):c.2505-15A>T
|
|
|
|
NM_000135.4(FANCA):c.2505-15_2505-13del
|
rs1420343115
|
|
|
NM_000135.4(FANCA):c.2505-17A>G
|
|
|
|
NM_000135.4(FANCA):c.2505-30_2505-10del
|
rs1598106124
|
|
|
NM_000135.4(FANCA):c.2505-4T>C
|
|
|
|
NM_000135.4(FANCA):c.2505-5T>C
|
rs768436599
|
|
|
NM_000135.4(FANCA):c.2505-8G>A
|
rs2143308956
|
|
|
NM_000135.4(FANCA):c.2505-8G>C
|
rs2143308956
|
|
|
NM_000135.4(FANCA):c.2505-8G>T
|
rs2143308956
|
|
|
NM_000135.4(FANCA):c.2508T>C (p.Phe836=)
|
|
|
|
NM_000135.4(FANCA):c.2514A>G (p.Thr838=)
|
|
|
|
NM_000135.4(FANCA):c.2529C>T (p.Tyr843=)
|
rs1247378731
|
|
|
NM_000135.4(FANCA):c.2532T>C (p.Ser844=)
|
rs778591541
|
|
|
NM_000135.4(FANCA):c.2535C>G (p.Leu845=)
|
|
|
|
NM_000135.4(FANCA):c.2535C>T (p.Leu845=)
|
rs1362752790
|
|
|
NM_000135.4(FANCA):c.2550C>T (p.Ser850=)
|
rs755395838
|
|
|
NM_000135.4(FANCA):c.255C>A (p.Ala85=)
|
rs780353222
|
|
|
NM_000135.4(FANCA):c.255C>G (p.Ala85=)
|
|
|
|
NM_000135.4(FANCA):c.255C>T (p.Ala85=)
|
rs780353222
|
|
|
NM_000135.4(FANCA):c.2562T>C (p.Asp854=)
|
|
|
|
NM_000135.4(FANCA):c.2571C>T (p.Cys857=)
|
|
|
|
NM_000135.4(FANCA):c.2580A>G (p.Leu860=)
|
rs1852141936
|
|
|
NM_000135.4(FANCA):c.2601+12C>G
|
|
|
|
NM_000135.4(FANCA):c.2601+12_2601+13del
|
|
|
|
NM_000135.4(FANCA):c.2601+15T>A
|
|
|
|
NM_000135.4(FANCA):c.2601+15_2601+16del
|
|
|
|
NM_000135.4(FANCA):c.2601+18C>G
|
|
|
|
NM_000135.4(FANCA):c.2601+18C>T
|
rs748995903
|
|
|
NM_000135.4(FANCA):c.2601+20A>G
|
|
|
|
NM_000135.4(FANCA):c.2601+8C>A
|
|
|
|
NM_000135.4(FANCA):c.2601+8C>T
|
rs775561931
|
|
|
NM_000135.4(FANCA):c.2601+9A>T
|
rs771837383
|
|
|
NM_000135.4(FANCA):c.2602-11C>G
|
|
|
|
NM_000135.4(FANCA):c.2602-11C>T
|
|
|
|
NM_000135.4(FANCA):c.2602-12T>C
|
|
|
|
NM_000135.4(FANCA):c.2602-17G>A
|
|
|
|
NM_000135.4(FANCA):c.2602-17G>C
|
|
|
|
NM_000135.4(FANCA):c.2602-18G>C
|
rs774316884
|
|
|
NM_000135.4(FANCA):c.2602-19G>A
|
rs17233225
|
|
|
NM_000135.4(FANCA):c.2602-4T>C
|
|
|
|
NM_000135.4(FANCA):c.2613C>A (p.Leu871=)
|
rs532032511
|
|
|
NM_000135.4(FANCA):c.2613C>G (p.Leu871=)
|
|
|
|
NM_000135.4(FANCA):c.261T>C (p.Ala87=)
|
|
|
|
NM_000135.4(FANCA):c.2625G>A (p.Leu875=)
|
|
|
|
NM_000135.4(FANCA):c.2634G>A (p.Glu878=)
|
rs2143289424
|
|
|
NM_000135.4(FANCA):c.2640A>T (p.Arg880=)
|
|
|
|
NM_000135.4(FANCA):c.2652T>G (p.Ser884=)
|
|
|
|
NM_000135.4(FANCA):c.2655G>A (p.Glu885=)
|
|
|
|
NM_000135.4(FANCA):c.2658G>A (p.Glu886=)
|
|
|
|
NM_000135.4(FANCA):c.2664A>T (p.Val888=)
|
|
|
|
NM_000135.4(FANCA):c.2670C>T (p.Ser890=)
|
rs1419813684
|
|
|
NM_000135.4(FANCA):c.2676C>A (p.Ser892=)
|
rs756478412
|
|
|
NM_000135.4(FANCA):c.2676C>G (p.Ser892=)
|
rs756478412
|
|
|
NM_000135.4(FANCA):c.2688G>A (p.Leu896=)
|
rs142393744
|
|
|
NM_000135.4(FANCA):c.2700T>C (p.Ser900=)
|
rs755783870
|
|
|
NM_000135.4(FANCA):c.2703A>G (p.Ala901=)
|
rs2143288685
|
|
|
NM_000135.4(FANCA):c.270T>C (p.Ser90=)
|
rs1322323561
|
|
|
NM_000135.4(FANCA):c.2721C>G (p.Ala907=)
|
rs775013707
|
|
|
NM_000135.4(FANCA):c.2721C>T (p.Ala907=)
|
|
|
|
NM_000135.4(FANCA):c.2727T>C (p.Ser909=)
|
|
|
|
NM_000135.4(FANCA):c.2730C>G (p.Leu910=)
|
|
|
|
NM_000135.4(FANCA):c.2736A>C (p.Thr912=)
|
|
|
|
NM_000135.4(FANCA):c.2745C>A (p.Thr915=)
|
rs781543214
|
|
|
NM_000135.4(FANCA):c.2745C>T (p.Thr915=)
|
rs781543214
|
|
|
NM_000135.4(FANCA):c.2749C>A (p.Arg917=)
|
|
|
|
NM_000135.4(FANCA):c.2778+11G>A
|
rs1211560919
|
|
|
NM_000135.4(FANCA):c.2778+11G>T
|
rs1211560919
|
|
|
NM_000135.4(FANCA):c.2778+13T>G
|
|
|
|
NM_000135.4(FANCA):c.2778+19_2778+101del
|
rs1567614267
|
|
|
NM_000135.4(FANCA):c.2778+20_2778+22del
|
rs778787539
|
|
|
NM_000135.4(FANCA):c.2778+51_2778+133del
|
rs2143286378
|
|
|
NM_000135.4(FANCA):c.2778+7_2778+36del
|
rs1253945933
|
|
|
NM_000135.4(FANCA):c.2778+9C>T
|
rs2143287939
|
|
|
NM_000135.4(FANCA):c.2779-10T>C
|
rs1434480162
|
|
|
NM_000135.4(FANCA):c.2779-11C>T
|
rs185392597
|
|
|
NM_000135.4(FANCA):c.2779-12T>C
|
|
|
|
NM_000135.4(FANCA):c.2779-13CT[2]
|
rs1567612434
|
|
|
NM_000135.4(FANCA):c.2779-14G>C
|
|
|
|
NM_000135.4(FANCA):c.2779-14G>T
|
|
|
|
NM_000135.4(FANCA):c.2779-16T>A
|
|
|
|
NM_000135.4(FANCA):c.2779-18G>A
|
|
|
|
NM_000135.4(FANCA):c.2779-18G>C
|
|
|
|
NM_000135.4(FANCA):c.2779-19T>C
|
|
|
|
NM_000135.4(FANCA):c.2779-20T>C
|
rs758046281
|
|
|
NM_000135.4(FANCA):c.2779-20T>G
|
|
|
|
NM_000135.4(FANCA):c.2779-5C>G
|
rs753286882
|
|
|
NM_000135.4(FANCA):c.2779-8T>C
|
|
|
|
NM_000135.4(FANCA):c.2779-9C>T
|
rs764825402
|
|
|
NM_000135.4(FANCA):c.2784T>G (p.Thr928=)
|
|
|
|
NM_000135.4(FANCA):c.2797T>C (p.Leu933=)
|
rs961319091
|
|
|
NM_000135.4(FANCA):c.27C>A (p.Ser9=)
|
|
|
|
NM_000135.4(FANCA):c.2803C>T (p.Leu935=)
|
rs1598096992
|
|
|
NM_000135.4(FANCA):c.2809C>T (p.Leu937=)
|
rs773381553
|
|
|
NM_000135.4(FANCA):c.283+10A>C
|
|
|
|
NM_000135.4(FANCA):c.283+12C>A
|
|
|
|
NM_000135.4(FANCA):c.283+12C>G
|
rs2143710577
|
|
|
NM_000135.4(FANCA):c.283+15C>A
|
|
|
|
NM_000135.4(FANCA):c.283+15C>T
|
|
|
|
NM_000135.4(FANCA):c.283+16A>G
|
|
|
|
NM_000135.4(FANCA):c.283+8A>G
|
|
|
|
NM_000135.4(FANCA):c.283+9T>A
|
rs779593295
|
|
|
NM_000135.4(FANCA):c.283+9T>G
|
rs779593295
|
|
|
NM_000135.4(FANCA):c.284-10T>C
|
rs1318685482
|
|
|
NM_000135.4(FANCA):c.284-11T>C
|
|
|
|
NM_000135.4(FANCA):c.284-13T>C
|
|
|
|
NM_000135.4(FANCA):c.284-14G>T
|
rs757531036
|
|
|
NM_000135.4(FANCA):c.284-15T>C
|
|
|
|
NM_000135.4(FANCA):c.284-19G>A
|
|
|
|
NM_000135.4(FANCA):c.284-19G>C
|
|
|
|
NM_000135.4(FANCA):c.284-20G>T
|
|
|
|
NM_000135.4(FANCA):c.284-7G>A
|
rs2143681344
|
|
|
NM_000135.4(FANCA):c.284-8T>C
|
rs2143681363
|
|
|
NM_000135.4(FANCA):c.284-9G>C
|
rs367672895
|
|
|
NM_000135.4(FANCA):c.2841A>T (p.Ser947=)
|
rs1555544202
|
|
|
NM_000135.4(FANCA):c.2844T>C (p.Asp948=)
|
rs2143260585
|
|
|
NM_000135.4(FANCA):c.2852+10G>C
|
rs2143260317
|
|
|
NM_000135.4(FANCA):c.2852+17G>C
|
|
|
|
NM_000135.4(FANCA):c.2852+18C>G
|
|
|
|
NM_000135.4(FANCA):c.2852+7G>A
|
|
|
|
NM_000135.4(FANCA):c.2852+7_2852+8del
|
|
|
|
NM_000135.4(FANCA):c.2853-10G>C
|
rs1432760258
|
|
|
NM_000135.4(FANCA):c.2853-11T>C
|
|
|
|
NM_000135.4(FANCA):c.2853-14G>A
|
|
|
|
NM_000135.4(FANCA):c.2853-15T>C
|
rs1252724124
|
|
|
NM_000135.4(FANCA):c.2853-16G>A
|
|
|
|
NM_000135.4(FANCA):c.2853-4C>A
|
rs1289126600
|
|
|
NM_000135.4(FANCA):c.2853-4C>T
|
rs1289126600
|
|
|
NM_000135.4(FANCA):c.2853-7G>A
|
|
|
|
NM_000135.4(FANCA):c.2853-9C>G
|
|
|
|
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)
|
rs149112292
|
|
|
NM_000135.4(FANCA):c.2859C>T (p.Asp953=)
|
rs149112292
|
|
|
NM_000135.4(FANCA):c.2868G>A (p.Gln956=)
|
|
|
|
NM_000135.4(FANCA):c.2874G>C (p.Ala958=)
|
|
|
|
NM_000135.4(FANCA):c.2877C>A (p.Ile959=)
|
rs369548782
|
|
|
NM_000135.4(FANCA):c.2877C>T (p.Ile959=)
|
|
|
|
NM_000135.4(FANCA):c.2886C>T (p.His962=)
|
rs1455455628
|
|
|
NM_000135.4(FANCA):c.2889T>C (p.Phe963=)
|
|
|
|
NM_000135.4(FANCA):c.2892C>A (p.Leu964=)
|
rs2143225154
|
|
|
NM_000135.4(FANCA):c.2892C>T (p.Leu964=)
|
rs2143225154
|
|
|
NM_000135.4(FANCA):c.2895T>C (p.Pro965=)
|
|
|
|
NM_000135.4(FANCA):c.2901C>G (p.Ser967=)
|
|
|
|
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)
|
rs568354015
|
|
|
NM_000135.4(FANCA):c.2904G>C (p.Ser968=)
|
rs568354015
|
|
|
NM_000135.4(FANCA):c.2928C>T (p.Asp976=)
|
rs1389873954
|
|
|
NM_000135.4(FANCA):c.2929C>T (p.Leu977=)
|
|
|
|
NM_000135.4(FANCA):c.2931G>A (p.Leu977=)
|
|
|
|
NM_000135.4(FANCA):c.2931G>T (p.Leu977=)
|
|
|
|
NM_000135.4(FANCA):c.2946C>A (p.Thr982=)
|
|
|
|
NM_000135.4(FANCA):c.2962C>T (p.Leu988=)
|
rs2143224238
|
|
|
NM_000135.4(FANCA):c.2964G>A (p.Leu988=)
|
rs751495133
|
|
|
NM_000135.4(FANCA):c.2970T>C (p.Asp990=)
|
rs2143224147
|
|
|
NM_000135.4(FANCA):c.2976C>T (p.His992=)
|
|
|
|
NM_000135.4(FANCA):c.2981+11C>T
|
|
|
|
NM_000135.4(FANCA):c.2981+13C>T
|
|
|
|
NM_000135.4(FANCA):c.2981+14A>G
|
|
|
|
NM_000135.4(FANCA):c.2981+15C>G
|
|
|
|
NM_000135.4(FANCA):c.2981+18T>C
|
|
|
|
NM_000135.4(FANCA):c.2981+19A>G
|
|
|
|
NM_000135.4(FANCA):c.2981+8G>A
|
|
|
|
NM_000135.4(FANCA):c.2981+8G>C
|
|
|
|
NM_000135.4(FANCA):c.2981+8_2981+10del
|
|
|
|
NM_000135.4(FANCA):c.2981+9C>A
|
rs2143223878
|
|
|
NM_000135.4(FANCA):c.2981+9C>G
|
|
|
|
NM_000135.4(FANCA):c.2981+9C>T
|
|
|
|
NM_000135.4(FANCA):c.2982-15G>T
|
rs55718325
|
|
|
NM_000135.4(FANCA):c.2982-192A>C
|
|
|
|
NM_000135.4(FANCA):c.2982-19T>C
|
|
|
|
NM_000135.4(FANCA):c.2982-8C>T
|
|
|
|
NM_000135.4(FANCA):c.2985A>G (p.Ser995=)
|
rs1598081370
|
|
|
NM_000135.4(FANCA):c.2985A>T (p.Ser995=)
|
rs1598081370
|
|
|
NM_000135.4(FANCA):c.2991T>C (p.Ser997=)
|
|
|
|
NM_000135.4(FANCA):c.2997C>T (p.Asp999=)
|
rs1393198725
|
|
|
NM_000135.4(FANCA):c.3003A>T (p.Ser1001=)
|
rs2038619241
|
|
|
NM_000135.4(FANCA):c.3009T>C (p.Asn1003=)
|
rs1001303157
|
|
|
NM_000135.4(FANCA):c.3012T>A (p.Ser1004=)
|
|
|
|
NM_000135.4(FANCA):c.3021C>A (p.Val1007=)
|
rs2143163779
|
|
|
NM_000135.4(FANCA):c.3021C>G (p.Val1007=)
|
|
|
|
NM_000135.4(FANCA):c.3027T>G (p.Gly1009=)
|
rs2143163711
|
|
|
NM_000135.4(FANCA):c.3036A>C (p.Thr1012=)
|
|
|
|
NM_000135.4(FANCA):c.3036A>G (p.Thr1012=)
|
rs2038617235
|
|
|
NM_000135.4(FANCA):c.3057C>A (p.Ser1019=)
|
|
|
|
NM_000135.4(FANCA):c.3057C>T (p.Ser1019=)
|
|
|
|
NM_000135.4(FANCA):c.3058A>C (p.Arg1020=)
|
|
|
|
NM_000135.4(FANCA):c.3061T>C (p.Leu1021=)
|
rs2143163305
|
|
|
NM_000135.4(FANCA):c.3066+10A>T
|
rs2143163210
|
|
|
NM_000135.4(FANCA):c.3066+11G>A
|
|
|
|
NM_000135.4(FANCA):c.3066+12G>A
|
|
|
|
NM_000135.4(FANCA):c.3066+17C>T
|
|
|
|
NM_000135.4(FANCA):c.3066+19C>G
|
|
|
|
NM_000135.4(FANCA):c.3066+19C>T
|
|
|
|
NM_000135.4(FANCA):c.3067-10T>C
|
rs1379021525
|
|
|
NM_000135.4(FANCA):c.3067-14C>G
|
rs1227291634
|
|
|
NM_000135.4(FANCA):c.3067-15A>G
|
|
|
|
NM_000135.4(FANCA):c.3067-17A>G
|
rs1598077091
|
|
|
NM_000135.4(FANCA):c.3067-20A>T
|
|
|
|
NM_000135.4(FANCA):c.3067-8T>C
|
|
|
|
NM_000135.4(FANCA):c.3067-9C>G
|
rs1271317902
|
|
|
NM_000135.4(FANCA):c.306C>G (p.Ala102=)
|
|
|
|
NM_000135.4(FANCA):c.3075A>G (p.Val1025=)
|
rs780769017
|
|
|
NM_000135.4(FANCA):c.3075A>T (p.Val1025=)
|
rs780769017
|
|
|
NM_000135.4(FANCA):c.3081C>T (p.Asp1027=)
|
rs751033993
|
|
|
NM_000135.4(FANCA):c.3082C>T (p.Leu1028=)
|
rs1447648920
|
|
|
NM_000135.4(FANCA):c.3084G>A (p.Leu1028=)
|
rs2038521694
|
|
|
NM_000135.4(FANCA):c.3096A>G (p.Gln1032=)
|
rs764351074
|
|
|
NM_000135.4(FANCA):c.3099C>T (p.Asp1033=)
|
rs139289675
|
|
|
NM_000135.4(FANCA):c.309A>C (p.Ser103=)
|
rs1284727333
|
|
|
NM_000135.4(FANCA):c.3102C>T (p.Leu1034=)
|
rs1216824664
|
|
|
NM_000135.4(FANCA):c.310A>C (p.Arg104=)
|
rs2143680951
|
|
|
NM_000135.4(FANCA):c.3117C>G (p.Gly1039=)
|
rs2143139529
|
|
|
NM_000135.4(FANCA):c.3120C>T (p.His1040=)
|
rs1567603921
|
|
|
NM_000135.4(FANCA):c.3123C>G (p.Thr1041=)
|
rs978882053
|
|
|
NM_000135.4(FANCA):c.3123C>T (p.Thr1041=)
|
|
|
|
NM_000135.4(FANCA):c.3126T>A (p.Pro1042=)
|
|
|
|
NM_000135.4(FANCA):c.3126T>G (p.Pro1042=)
|
rs2038519967
|
|
|
NM_000135.4(FANCA):c.3135G>A (p.Glu1045=)
|
|
|
|
NM_000135.4(FANCA):c.313C>T (p.Leu105=)
|
|
|
|
NM_000135.4(FANCA):c.3144C>G (p.Leu1048=)
|
rs1302242291
|
|
|
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=)
|
rs1302242291
|
|
|
NM_000135.4(FANCA):c.3150G>A (p.Glu1050=)
|
rs2143139115
|
|
|
NM_000135.4(FANCA):c.3160A>C (p.Arg1054=)
|
|
|
|
NM_000135.4(FANCA):c.3163C>A (p.Arg1055=)
|
rs753063086
|
|
|
NM_000135.4(FANCA):c.3168C>G (p.Leu1056=)
|
rs377633991
|
|
|
NM_000135.4(FANCA):c.3177G>C (p.Leu1059=)
|
rs2143138665
|
|
|
NM_000135.4(FANCA):c.3177G>T (p.Leu1059=)
|
rs2143138665
|
|
|
NM_000135.4(FANCA):c.3180A>T (p.Thr1060=)
|
|
|
|
NM_000135.4(FANCA):c.3186G>T (p.Gly1062=)
|
rs2038517320
|
|
|
NM_000135.4(FANCA):c.318G>A (p.Gly106=)
|
|
|
|
NM_000135.4(FANCA):c.3195G>A (p.Val1065=)
|
rs2143138336
|
|
|
NM_000135.4(FANCA):c.3195G>C (p.Val1065=)
|
|
|
|
NM_000135.4(FANCA):c.3201C>A (p.Ala1067=)
|
|
|
|
NM_000135.4(FANCA):c.3204C>T (p.Ser1068=)
|
|
|
|
NM_000135.4(FANCA):c.3207T>C (p.Leu1069=)
|
rs2143138181
|
|
|
NM_000135.4(FANCA):c.3211A>C (p.Arg1071=)
|
|
|
|
NM_000135.4(FANCA):c.3216G>A (p.Gln1072=)
|
rs753298211
|
|
|
NM_000135.4(FANCA):c.3219G>A (p.Arg1073=)
|
rs755453758
|
|
|
NM_000135.4(FANCA):c.321T>C (p.Val107=)
|
rs2143680806
|
|
|
NM_000135.4(FANCA):c.3222G>A (p.Glu1074=)
|
rs575923160
|
|
|
NM_000135.4(FANCA):c.3225G>C (p.Leu1075=)
|
|
|
|
NM_000135.4(FANCA):c.3228A>G (p.Leu1076=)
|
rs765285538
|
|
|
NM_000135.4(FANCA):c.3239+10A>G
|
|
|
|
NM_000135.4(FANCA):c.3239+11C>G
|
rs200232122
|
|
|
NM_000135.4(FANCA):c.3239+11C>T
|
|
|
|
NM_000135.4(FANCA):c.3239+12T>C
|
|
|
|
NM_000135.4(FANCA):c.3239+14C>T
|
|
|
|
NM_000135.4(FANCA):c.3239+15C>T
|
|
|
|
NM_000135.4(FANCA):c.3239+17C>A
|
|
|
|
NM_000135.4(FANCA):c.3239+18C>A
|
rs781742623
|
|
|
NM_000135.4(FANCA):c.3239+7C>G
|
rs775293779
|
|
|
NM_000135.4(FANCA):c.3239+8C>T
|
rs2038514547
|
|
|
NM_000135.4(FANCA):c.3240-12C>G
|
|
|
|
NM_000135.4(FANCA):c.3240-12C>T
|
|
|
|
NM_000135.4(FANCA):c.3240-16A>G
|
|
|
|
NM_000135.4(FANCA):c.3240-17C>A
|
rs780439636
|
|
|
NM_000135.4(FANCA):c.3240-17C>T
|
rs780439636
|
|
|
NM_000135.4(FANCA):c.3240-18A>T
|
|
|
|
NM_000135.4(FANCA):c.3240-20A>G
|
|
|
|
NM_000135.4(FANCA):c.3240-8C>G
|
rs2143128494
|
|
|
NM_000135.4(FANCA):c.3243C>A (p.Ile1081=)
|
rs2143128420
|
|
|
NM_000135.4(FANCA):c.3246C>G (p.Leu1082=)
|
rs753864057
|
|
|
NM_000135.4(FANCA):c.324C>A (p.Pro108=)
|
|
|
|
NM_000135.4(FANCA):c.3252C>T (p.Arg1084=)
|
|
|
|
NM_000135.4(FANCA):c.3255G>A (p.Leu1085=)
|
rs1485904394
|
|
|
NM_000135.4(FANCA):c.3255G>C (p.Leu1085=)
|
|
|
|
NM_000135.4(FANCA):c.3258T>C (p.Pro1086=)
|
|
|
|
NM_000135.4(FANCA):c.3261G>C (p.Ser1087=)
|
|
|
|
NM_000135.4(FANCA):c.3264T>C (p.Ser1088=)
|
rs1167053992
|
|
|
NM_000135.4(FANCA):c.3267C>T (p.Val1089=)
|
rs994416299
|
|
|
NM_000135.4(FANCA):c.3273C>T (p.Cys1091=)
|
rs1450151864
|
|
|
NM_000135.4(FANCA):c.3276C>T (p.Gly1092=)
|
|
|
|
NM_000135.4(FANCA):c.327G>C (p.Val109=)
|
|
|
|
NM_000135.4(FANCA):c.3282C>T (p.Ser1094=)
|
rs761244757
|
|
|
NM_000135.4(FANCA):c.3291A>G (p.Ala1097=)
|
rs2143127816
|
|
|
NM_000135.4(FANCA):c.3293A>G (p.Glu1098Gly)
|
|
|
|
NM_000135.4(FANCA):c.3297G>A (p.Gln1099=)
|
rs779268656
|
|
|
NM_000135.4(FANCA):c.330T>C (p.Gly110=)
|
rs2143680634
|
|
|
NM_000135.4(FANCA):c.3315C>T (p.Cys1105=)
|
rs749550737
|
|
|
NM_000135.4(FANCA):c.3318G>A (p.Glu1106=)
|
|
|
|
NM_000135.4(FANCA):c.3324C>T (p.Phe1108=)
|
rs2143127434
|
|
|
NM_000135.4(FANCA):c.3327C>T (p.Phe1109=)
|
|
|
|
NM_000135.4(FANCA):c.3333G>A (p.Leu1111=)
|
|
|
|
NM_000135.4(FANCA):c.3336C>G (p.Val1112=)
|
rs1249462859
|
|
|
NM_000135.4(FANCA):c.3342T>C (p.Ser1114=)
|
rs2143127277
|
|
|
NM_000135.4(FANCA):c.3345G>A (p.Glu1115=)
|
|
|
|
NM_000135.4(FANCA):c.3348+11C>G
|
rs367624518
|
|
|
NM_000135.4(FANCA):c.3348+13T>C
|
|
|
|
NM_000135.4(FANCA):c.3348+15T>G
|
|
|
|
NM_000135.4(FANCA):c.3348+19C>G
|
|
|
|
NM_000135.4(FANCA):c.3348+20G>A
|
rs374602648
|
|
|
NM_000135.4(FANCA):c.3348+7G>C
|
|
|
|
NM_000135.4(FANCA):c.3348+8C>G
|
rs571631071
|
|
|
NM_000135.4(FANCA):c.3348+8C>T
|
rs571631071
|
|
|
NM_000135.4(FANCA):c.3348+9C>T
|
rs2143127104
|
|
|
NM_000135.4(FANCA):c.3349-11C>T
|
|
|
|
NM_000135.4(FANCA):c.3349-15T>C
|
|
|
|
NM_000135.4(FANCA):c.3349-18C>T
|
|
|
|
NM_000135.4(FANCA):c.3349-6_3349-5del
|
rs2143109700
|
|
|
NM_000135.4(FANCA):c.3349-7T>C
|
|
|
|
NM_000135.4(FANCA):c.3349-8T>C
|
rs2143109726
|
|
|
NM_000135.4(FANCA):c.3349-9C>T
|
rs1463228706
|
|
|
NM_000135.4(FANCA):c.3360C>T (p.Cys1120=)
|
rs2143109489
|
|
|
NM_000135.4(FANCA):c.336C>G (p.Leu112=)
|
rs774843944
|
|
|
NM_000135.4(FANCA):c.3372T>C (p.Gly1124=)
|
|
|
|
NM_000135.4(FANCA):c.3375C>G (p.Ala1125=)
|
|
|
|
NM_000135.4(FANCA):c.3376C>T (p.Leu1126=)
|
rs2143109313
|
|
|
NM_000135.4(FANCA):c.3378G>A (p.Leu1126=)
|
|
|
|
NM_000135.4(FANCA):c.3378G>C (p.Leu1126=)
|
|
|
|
NM_000135.4(FANCA):c.3384G>A (p.Gln1128=)
|
rs867468844
|
|
|
NM_000135.4(FANCA):c.3387C>T (p.Asp1129=)
|
rs2143109171
|
|
|
NM_000135.4(FANCA):c.3390C>T (p.Ile1130=)
|
rs373168838
|
|
|
NM_000135.4(FANCA):c.3393T>A (p.Thr1131=)
|
|
|
|
NM_000135.4(FANCA):c.3393T>G (p.Thr1131=)
|
rs2143109062
|
|
|
NM_000135.4(FANCA):c.3396C>A (p.Ala1132=)
|
|
|
|
NM_000135.4(FANCA):c.3396C>G (p.Ala1132=)
|
|
|
|
NM_000135.4(FANCA):c.3396C>T (p.Ala1132=)
|
|
|
|
NM_000135.4(FANCA):c.3408+11C>T
|
|
|
|
NM_000135.4(FANCA):c.3408+18C>T
|
|
|
|
NM_000135.4(FANCA):c.3408+19C>T
|
|
|
|
NM_000135.4(FANCA):c.3408+7T>A
|
|
|
|
NM_000135.4(FANCA):c.3408+7T>C
|
|
|
|
NM_000135.4(FANCA):c.3408+8G>A
|
|
|
|
NM_000135.4(FANCA):c.3408+9C>A
|
|
|
|
NM_000135.4(FANCA):c.3408+9C>T
|
rs377702890
|
|
|
NM_000135.4(FANCA):c.3409-11C>T
|
|
|
|
NM_000135.4(FANCA):c.3409-14G>A
|
|
|
|
NM_000135.4(FANCA):c.3409-14G>T
|
|
|
|
NM_000135.4(FANCA):c.3409-15C>T
|
|
|
|
NM_000135.4(FANCA):c.3409-18C>T
|
rs762166434
|
|
|
NM_000135.4(FANCA):c.3409-19G>A
|
|
|
|
NM_000135.4(FANCA):c.3409-20T>C
|
|
|
|
NM_000135.4(FANCA):c.3409-22_3409-20del
|
|
|
|
NM_000135.4(FANCA):c.3409-6C>G
|
rs377428227
|
|
|
NM_000135.4(FANCA):c.3409-7C>T
|
|
|
|
NM_000135.4(FANCA):c.3409-8T>C
|
rs2038402291
|
|
|
NM_000135.4(FANCA):c.3414C>A (p.Leu1138=)
|
rs2143107000
|
|
|
NM_000135.4(FANCA):c.3414C>T (p.Leu1138=)
|
|
|
|
NM_000135.4(FANCA):c.3417G>A (p.Leu1139=)
|
rs1376693764
|
|
|
NM_000135.4(FANCA):c.3421G>A (p.Ala1141Thr)
|
|
|
|
NM_000135.4(FANCA):c.3429G>T (p.Leu1143=)
|
|
|
|
NM_000135.4(FANCA):c.342C>G (p.Ala114=)
|
rs777989691
|
|
|
NM_000135.4(FANCA):c.3431G>A (p.Arg1144Gln)
|
|
|
|
NM_000135.4(FANCA):c.3441C>T (p.Asp1147=)
|
rs2038400468
|
|
|
NM_000135.4(FANCA):c.3450G>C (p.Leu1150=)
|
rs1266179547
|
|
|
NM_000135.4(FANCA):c.3450G>T (p.Leu1150=)
|
|
|
|
NM_000135.4(FANCA):c.3456C>G (p.Val1152=)
|
rs530619438
|
|
|
NM_000135.4(FANCA):c.3456C>T (p.Val1152=)
|
|
|
|
NM_000135.4(FANCA):c.345G>A (p.Gly115=)
|
|
|
|
NM_000135.4(FANCA):c.3471C>G (p.Ala1157=)
|
rs2143106130
|
|
|
NM_000135.4(FANCA):c.3471C>T (p.Ala1157=)
|
|
|
|
NM_000135.4(FANCA):c.3477C>T (p.Cys1159=)
|
rs2143106071
|
|
|
NM_000135.4(FANCA):c.3480G>A (p.Gln1160=)
|
rs983310870
|
|
|
NM_000135.4(FANCA):c.3486A>G (p.Lys1162=)
|
rs746491969
|
|
|
NM_000135.4(FANCA):c.3492C>G (p.Pro1164=)
|
|
|
|
NM_000135.4(FANCA):c.3493T>C (p.Leu1165=)
|
|
|
|
NM_000135.4(FANCA):c.3499T>C (p.Leu1167=)
|
rs2143105878
|
|
|
NM_000135.4(FANCA):c.3504C>A (p.Thr1168=)
|
rs371464360
|
|
|
NM_000135.4(FANCA):c.3504C>G (p.Thr1168=)
|
rs371464360
|
|
|
NM_000135.4(FANCA):c.3504C>T (p.Thr1168=)
|
rs371464360
|
|
|
NM_000135.4(FANCA):c.3507T>C (p.Ser1169=)
|
rs1211736375
|
|
|
NM_000135.4(FANCA):c.3513+10C>T
|
rs1431403785
|
|
|
NM_000135.4(FANCA):c.3513+12G>A
|
|
|
|
NM_000135.4(FANCA):c.3513+12G>T
|
|
|
|
NM_000135.4(FANCA):c.3513+14C>T
|
|
|
|
NM_000135.4(FANCA):c.3513+17G>A
|
|
|
|
NM_000135.4(FANCA):c.3513+17G>C
|
|
|
|
NM_000135.4(FANCA):c.3513+17_3513+19del
|
rs2038397381
|
|
|
NM_000135.4(FANCA):c.3513+20T>C
|
|
|
|
NM_000135.4(FANCA):c.3513+20T>G
|
|
|
|
NM_000135.4(FANCA):c.3513+8A>G
|
|
|
|
NM_000135.4(FANCA):c.3513+9G>C
|
rs1394337237
|
|
|
NM_000135.4(FANCA):c.3514-10C>G
|
rs561558430
|
|
|
NM_000135.4(FANCA):c.3514-10C>T
|
rs561558430
|
|
|
NM_000135.4(FANCA):c.3514-11T>C
|
|
|
|
NM_000135.4(FANCA):c.3514-11T>G
|
|
|
|
NM_000135.4(FANCA):c.3514-11TC[2]
|
rs1442804362
|
|
|
NM_000135.4(FANCA):c.3514-13G>C
|
|
|
|
NM_000135.4(FANCA):c.3514-14T>C
|
|
|
|
NM_000135.4(FANCA):c.3514-15G>A
|
|
|
|
NM_000135.4(FANCA):c.3514-16G>C
|
|
|
|
NM_000135.4(FANCA):c.3514-5C>A
|
rs2143088493
|
|
|
NM_000135.4(FANCA):c.3514-5C>T
|
|
|
|
NM_000135.4(FANCA):c.3514-6C>T
|
rs1018130831
|
|
|
NM_000135.4(FANCA):c.3514-7T>C
|
rs2143088550
|
|
|
NM_000135.4(FANCA):c.3514-8C>G
|
|
|
|
NM_000135.4(FANCA):c.3514-8C>T
|
rs2143088562
|
|
|
NM_000135.4(FANCA):c.3525G>C (p.Pro1175=)
|
rs765106818
|
|
|
NM_000135.4(FANCA):c.3528C>T (p.Ser1176=)
|
|
|
|
NM_000135.4(FANCA):c.3529C>T (p.Leu1177=)
|
rs2038335485
|
|
|
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)
|
rs886052482
|
|
|
NM_000135.4(FANCA):c.3534G>A (p.Glu1178=)
|
rs1598067510
|
|
|
NM_000135.4(FANCA):c.3540G>A (p.Val1180=)
|
rs1423399664
|
|
|
NM_000135.4(FANCA):c.3541C>T (p.Leu1181=)
|
rs2143088159
|
|
|
NM_000135.4(FANCA):c.3543G>A (p.Leu1181=)
|
|
|
|
NM_000135.4(FANCA):c.3543G>C (p.Leu1181=)
|
rs1336604242
|
|
|
NM_000135.4(FANCA):c.3543G>T (p.Leu1181=)
|
rs1336604242
|
|
|
NM_000135.4(FANCA):c.354C>T (p.Ala118=)
|
rs2143680281
|
|
|
NM_000135.4(FANCA):c.3552G>C (p.Arg1184=)
|
rs774029286
|
|
|
NM_000135.4(FANCA):c.3567C>T (p.Cys1189=)
|
|
|
|
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)
|
rs751309143
|
|
|
NM_000135.4(FANCA):c.3577C>T (p.Leu1193=)
|
rs2143087511
|
|
|
NM_000135.4(FANCA):c.357T>C (p.Ser119=)
|
rs2143680257
|
|
|
NM_000135.4(FANCA):c.3582C>T (p.Pro1194=)
|
rs2143087454
|
|
|
NM_000135.4(FANCA):c.3589C>T (p.Leu1197=)
|
rs2143087368
|
|
|
NM_000135.4(FANCA):c.3591G>C (p.Leu1197=)
|
rs55773634
|
|
|
NM_000135.4(FANCA):c.3591G>T (p.Leu1197=)
|
|
|
|
NM_000135.4(FANCA):c.3597G>A (p.Lys1199=)
|
rs1240994313
|
|
|
NM_000135.4(FANCA):c.3600A>G (p.Leu1200=)
|
rs2143087262
|
|
|
NM_000135.4(FANCA):c.360C>T (p.Ser120=)
|
rs968636087
|
|
|
NM_000135.4(FANCA):c.3610C>A (p.Arg1204=)
|
|
|
|
NM_000135.4(FANCA):c.3621C>T (p.Ala1207=)
|
rs1269626015
|
|
|
NM_000135.4(FANCA):c.3626+13G>T
|
rs2143086671
|
|
|
NM_000135.4(FANCA):c.3626+18G>C
|
|
|
|
NM_000135.4(FANCA):c.3626+19A>C
|
|
|
|
NM_000135.4(FANCA):c.3626+7G>T
|
|
|
|
NM_000135.4(FANCA):c.3627-11C>G
|
|
|
|
NM_000135.4(FANCA):c.3627-11C>T
|
|
|
|
NM_000135.4(FANCA):c.3627-13C>T
|
|
|
|
NM_000135.4(FANCA):c.3627-14T>A
|
|
|
|
NM_000135.4(FANCA):c.3627-14dup
|
|
|
|
NM_000135.4(FANCA):c.3627-16_3627-11dup
|
|
|
|
NM_000135.4(FANCA):c.3627-18C>A
|
|
|
|
NM_000135.4(FANCA):c.3627-18C>G
|
|
|
|
NM_000135.4(FANCA):c.3627-20C>G
|
rs1567598547
|
|
|
NM_000135.4(FANCA):c.3627-4C>G
|
rs2062172483
|
|
|
NM_000135.4(FANCA):c.3627-5C>A
|
rs1417894512
|
|
|
NM_000135.4(FANCA):c.3627-7G>C
|
rs1161905441
|
|
|
NM_000135.4(FANCA):c.3627-9C>G
|
|
|
|
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=)
|
rs776001484
|
|
|
NM_000135.4(FANCA):c.3631C>T (p.Leu1211Phe)
|
|
|
|
NM_000135.4(FANCA):c.3633C>G (p.Leu1211=)
|
|
|
|
NM_000135.4(FANCA):c.3639T>C (p.Pro1213=)
|
rs1567598479
|
|
|
NM_000135.4(FANCA):c.363G>C (p.Val121=)
|
|
|
|
NM_000135.4(FANCA):c.3648C>T (p.Ala1216=)
|
|
|
|
NM_000135.4(FANCA):c.3657A>T (p.Ala1219=)
|
rs2143062526
|
|
|
NM_000135.4(FANCA):c.3662A>T (p.Asn1221Ile)
|
|
|
|
NM_000135.4(FANCA):c.3663C>T (p.Asn1221=)
|
rs781216012
|
|
|
NM_000135.4(FANCA):c.3666G>T (p.Pro1222=)
|
rs780031277
|
|
|
NM_000135.4(FANCA):c.3675C>T (p.Leu1225=)
|
|
|
|
NM_000135.4(FANCA):c.3696T>C (p.Phe1232=)
|
rs563966600
|
|
|
NM_000135.4(FANCA):c.3696T>G (p.Phe1232Leu)
|
rs563966600
|
|
|
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)
|
rs545742908
|
|
|
NM_000135.4(FANCA):c.369G>A (p.Gln123=)
|
|
|
|
NM_000135.4(FANCA):c.36C>G (p.Gly12=)
|
rs751361669
|
|
|
NM_000135.4(FANCA):c.3726C>A (p.Ile1242=)
|
rs972127356
|
|
|
NM_000135.4(FANCA):c.3727A>C (p.Arg1243=)
|
rs1051421921
|
|
|
NM_000135.4(FANCA):c.3729G>A (p.Arg1243=)
|
rs762929756
|
|
|
NM_000135.4(FANCA):c.372C>A (p.Ile124=)
|
rs765016775
|
|
|
NM_000135.4(FANCA):c.3756G>A (p.Glu1252=)
|
|
|
|
NM_000135.4(FANCA):c.375C>T (p.Cys125=)
|
rs199793463
|
|
|
NM_000135.4(FANCA):c.3765+13del
|
|
|
|
NM_000135.4(FANCA):c.3765+14T>A
|
|
|
|
NM_000135.4(FANCA):c.3765+16C>G
|
|
|
|
NM_000135.4(FANCA):c.3765+16C>T
|
rs745639466
|
|
|
NM_000135.4(FANCA):c.3765+18T>G
|
|
|
|
NM_000135.4(FANCA):c.3765+19T>C
|
|
|
|
NM_000135.4(FANCA):c.3765+20T>C
|
|
|
|
NM_000135.4(FANCA):c.3765+7T>C
|
|
|
|
NM_000135.4(FANCA):c.3765+8A>C
|
rs2143060169
|
|
|
NM_000135.4(FANCA):c.3768A>C (p.Leu1256=)
|
|
|
|
NM_000135.4(FANCA):c.3768A>T (p.Leu1256=)
|
rs747616573
|
|
|
NM_000135.4(FANCA):c.3771G>A (p.Leu1257=)
|
rs1402327994
|
|
|
NM_000135.4(FANCA):c.377C>T (p.Thr126Met)
|
rs139160837
|
|
|
NM_000135.4(FANCA):c.3783C>T (p.Phe1261=)
|
rs2062115689
|
|
|
NM_000135.4(FANCA):c.3786C>T (p.Phe1262=)
|
|
|
|
NM_000135.4(FANCA):c.378G>A (p.Thr126=)
|
rs544680245
|
|
|
NM_000135.4(FANCA):c.378G>C (p.Thr126=)
|
rs544680245
|
|
|
NM_000135.4(FANCA):c.3792C>G (p.Ser1264=)
|
|
|
|
NM_000135.4(FANCA):c.3795G>A (p.Leu1265=)
|
rs1010989878
|
|
|
NM_000135.4(FANCA):c.3801C>G (p.Gly1267=)
|
rs143772894
|
|
|
NM_000135.4(FANCA):c.3804G>C (p.Leu1268=)
|
rs1449170388
|
|
|
NM_000135.4(FANCA):c.3807G>A (p.Leu1269=)
|
|
|
|
NM_000135.4(FANCA):c.3810G>C (p.Ser1270=)
|
rs138144828
|
|
|
NM_000135.4(FANCA):c.3810G>T (p.Ser1270=)
|
rs138144828
|
|
|
NM_000135.4(FANCA):c.3813A>T (p.Ser1271=)
|
|
|
|
NM_000135.4(FANCA):c.3819G>A (p.Leu1273=)
|
|
|
|
NM_000135.4(FANCA):c.381T>C (p.Ala127=)
|
rs771232511
|
|
|
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=)
|
rs1382340096
|
|
|
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=)
|
rs886052480
|
|
|
NM_000135.4(FANCA):c.3834C>T (p.Thr1278=)
|
|
|
|
NM_000135.4(FANCA):c.3837A>G (p.Thr1279=)
|
rs2151714884
|
|
|
NM_000135.4(FANCA):c.3841C>T (p.Leu1281=)
|
rs2151714870
|
|
|
NM_000135.4(FANCA):c.3846A>C (p.Pro1282=)
|
rs2151714851
|
|
|
NM_000135.4(FANCA):c.3846A>G (p.Pro1282=)
|
rs2151714851
|
|
|
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)
|
rs142919010
|
|
|
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)
|
rs142919010
|
|
|
NM_000135.4(FANCA):c.3855C>T (p.Phe1285=)
|
|
|
|
NM_000135.4(FANCA):c.3867A>T (p.Ala1289=)
|
|
|
|
NM_000135.4(FANCA):c.3873C>A (p.Ile1291=)
|
rs2062089414
|
|
|
NM_000135.4(FANCA):c.387G>T (p.Ala129=)
|
|
|
|
NM_000135.4(FANCA):c.3888G>A (p.Glu1296=)
|
rs1204611147
|
|
|
NM_000135.4(FANCA):c.3900A>C (p.Ile1300=)
|
rs2151714696
|
|
|
NM_000135.4(FANCA):c.3907C>T (p.Leu1303=)
|
rs2151714673
|
|
|
NM_000135.4(FANCA):c.3909G>A (p.Leu1303=)
|
|
|
|
NM_000135.4(FANCA):c.3912A>T (p.Ala1304=)
|
rs545021222
|
|
|
NM_000135.4(FANCA):c.3918T>C (p.Phe1306=)
|
rs2151714638
|
|
|
NM_000135.4(FANCA):c.3922T>C (p.Leu1308=)
|
|
|
|
NM_000135.4(FANCA):c.3930G>A (p.Glu1310=)
|
rs2151714594
|
|
|
NM_000135.4(FANCA):c.3936C>T (p.Asp1312=)
|
|
|
|
NM_000135.4(FANCA):c.3939C>T (p.Leu1313=)
|
|
|
|
NM_000135.4(FANCA):c.393C>A (p.Thr131=)
|
rs1217316233
|
|
|
NM_000135.4(FANCA):c.3940A>C (p.Arg1314=)
|
|
|
|
NM_000135.4(FANCA):c.3945G>A (p.Leu1315=)
|
rs941282193
|
|
|
NM_000135.4(FANCA):c.3945G>C (p.Leu1315=)
|
rs941282193
|
|
|
NM_000135.4(FANCA):c.3948G>A (p.Gly1316=)
|
|
|
|
NM_000135.4(FANCA):c.3951G>A (p.Arg1317=)
|
rs1439529670
|
|
|
NM_000135.4(FANCA):c.3954C>T (p.Leu1318=)
|
rs187297609
|
|
|
NM_000135.4(FANCA):c.3957C>T (p.Leu1319=)
|
|
|
|
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)
|
rs755375493
|
|
|
NM_000135.4(FANCA):c.3966G>A (p.Val1322=)
|
|
|
|
NM_000135.4(FANCA):c.3972G>A (p.Pro1324=)
|
|
|
|
NM_000135.4(FANCA):c.3981_3982inv (p.Thr1328Ala)
|
|
|
|
NM_000135.4(FANCA):c.3984C>A (p.Thr1328=)
|
rs917010763
|
|
|
NM_000135.4(FANCA):c.3990G>C (p.Leu1330=)
|
|
|
|
NM_000135.4(FANCA):c.3996T>A (p.Pro1332=)
|
|
|
|
NM_000135.4(FANCA):c.4008C>T (p.Tyr1336=)
|
rs1278514199
|
|
|
NM_000135.4(FANCA):c.4014T>C (p.Leu1338=)
|
rs2151712093
|
|
|
NM_000135.4(FANCA):c.4020C>T (p.Ser1340=)
|
|
|
|
NM_000135.4(FANCA):c.4023C>T (p.Tyr1341=)
|
|
|
|
NM_000135.4(FANCA):c.4026C>T (p.Phe1342=)
|
rs775186188
|
|
|
NM_000135.4(FANCA):c.402T>C (p.Pro134=)
|
rs745666586
|
|
|
NM_000135.4(FANCA):c.4038G>T (p.Ala1346=)
|
rs755479861
|
|
|
NM_000135.4(FANCA):c.4041C>A (p.Ala1347=)
|
|
|
|
NM_000135.4(FANCA):c.4041C>T (p.Ala1347=)
|
rs2062058480
|
|
|
NM_000135.4(FANCA):c.4045A>C (p.Arg1349=)
|
|
|
|
NM_000135.4(FANCA):c.4053G>A (p.Glu1351=)
|
rs1477796994
|
|
|
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)
|
rs2062057880
|
|
|
NM_000135.4(FANCA):c.405G>A (p.Val135=)
|
rs1598190634
|
|
|
NM_000135.4(FANCA):c.4060C>T (p.Leu1354=)
|
rs2151711931
|
|
|
NM_000135.4(FANCA):c.4062G>A (p.Leu1354=)
|
|
|
|
NM_000135.4(FANCA):c.4062G>T (p.Leu1354=)
|
|
|
|
NM_000135.4(FANCA):c.4068T>C (p.Val1356=)
|
|
|
|
NM_000135.4(FANCA):c.406C>T (p.Leu136=)
|
rs2040854292
|
|
|
NM_000135.4(FANCA):c.4071T>G (p.Ala1357=)
|
rs764090579
|
|
|
NM_000135.4(FANCA):c.4098G>A (p.Gln1366=)
|
|
|
|
NM_000135.4(FANCA):c.4101C>T (p.Leu1367=)
|
|
|
|
NM_000135.4(FANCA):c.4104C>T (p.Phe1368=)
|
rs375237681
|
|
|
NM_000135.4(FANCA):c.4116T>C (p.Asp1372=)
|
|
|
|
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)
|
rs1209384219
|
|
|
NM_000135.4(FANCA):c.4137A>G (p.Pro1379=)
|
rs1172262659
|
|
|
NM_000135.4(FANCA):c.4144A>C (p.Arg1382=)
|
|
|
|
NM_000135.4(FANCA):c.4149C>T (p.Ser1383=)
|
rs2151711619
|
|
|
NM_000135.4(FANCA):c.414T>C (p.Thr138=)
|
|
|
|
NM_000135.4(FANCA):c.4152G>A (p.Leu1384=)
|
rs2062054135
|
|
|
NM_000135.4(FANCA):c.4155G>A (p.Glu1385=)
|
rs770551622
|
|
|
NM_000135.4(FANCA):c.4158C>G (p.Leu1386=)
|
rs1366841040
|
|
|
NM_000135.4(FANCA):c.4173C>T (p.Asn1391=)
|
|
|
|
NM_000135.4(FANCA):c.4176C>G (p.Pro1392=)
|
rs776860862
|
|
|
NM_000135.4(FANCA):c.4176C>T (p.Pro1392=)
|
rs776860862
|
|
|
NM_000135.4(FANCA):c.417G>C (p.Val139=)
|
rs2143679237
|
|
|
NM_000135.4(FANCA):c.4182A>G (p.Glu1394=)
|
|
|
|
NM_000135.4(FANCA):c.4200T>A (p.Arg1400=)
|
|
|
|
NM_000135.4(FANCA):c.4200T>C (p.Arg1400=)
|
rs2151710848
|
|
|
NM_000135.4(FANCA):c.4209G>A (p.Leu1403=)
|
|
|
|
NM_000135.4(FANCA):c.4236A>G (p.Lys1412=)
|
|
|
|
NM_000135.4(FANCA):c.4239G>A (p.Lys1413=)
|
|
|
|
NM_000135.4(FANCA):c.423G>A (p.Gln141=)
|
rs1598190596
|
|
|
NM_000135.4(FANCA):c.4242C>T (p.Ser1414=)
|
rs745958661
|
|
|
NM_000135.4(FANCA):c.4245C>T (p.Phe1415=)
|
|
|
|
NM_000135.4(FANCA):c.426+11A>G
|
|
|
|
NM_000135.4(FANCA):c.426+13C>G
|
|
|
|
NM_000135.4(FANCA):c.426+16A>G
|
rs1598190483
|
|
|
NM_000135.4(FANCA):c.426+17G>A
|
|
|
|
NM_000135.4(FANCA):c.426+8A>C
|
|
|
|
NM_000135.4(FANCA):c.426+8A>G
|
|
|
|
NM_000135.4(FANCA):c.426+9C>A
|
|
|
|
NM_000135.4(FANCA):c.426+9C>G
|
rs1161434880
|
|
|
NM_000135.4(FANCA):c.4269T>C (p.Ala1423=)
|
rs764113707
|
|
|
NM_000135.4(FANCA):c.427-10C>G
|
rs766856688
|
|
|
NM_000135.4(FANCA):c.427-12C>G
|
|
|
|
NM_000135.4(FANCA):c.427-12C>T
|
|
|
|
NM_000135.4(FANCA):c.427-17G>A
|
|
|
|
NM_000135.4(FANCA):c.427-20A>C
|
|
|
|
NM_000135.4(FANCA):c.427-8C>G
|
rs750757532
|
|
|
NM_000135.4(FANCA):c.427-8C>T
|
rs750757532
|
|
|
NM_000135.4(FANCA):c.427-9T>C
|
rs1598190255
|
|
|
NM_000135.4(FANCA):c.4272T>C (p.Asp1424=)
|
rs2151709956
|
|
|
NM_000135.4(FANCA):c.4278G>A (p.Gly1426=)
|
rs2151709922
|
|
|
NM_000135.4(FANCA):c.4281C>T (p.Asp1427=)
|
rs1598048898
|
|
|
NM_000135.4(FANCA):c.4287C>T (p.Asp1429=)
|
rs2151709886
|
|
|
NM_000135.4(FANCA):c.4293G>A (p.Glu1431=)
|
|
|
|
NM_000135.4(FANCA):c.4296G>A (p.Val1432=)
|
rs2151709848
|
|
|
NM_000135.4(FANCA):c.4296G>T (p.Val1432=)
|
|
|
|
NM_000135.4(FANCA):c.42C>T (p.Asp14=)
|
|
|
|
NM_000135.4(FANCA):c.4308C>T (p.Leu1436=)
|
rs199937973
|
|
|
NM_000135.4(FANCA):c.4311G>A (p.Gln1437=)
|
|
|
|
NM_000135.4(FANCA):c.4314C>T (p.Ser1438=)
|
|
|
|
NM_000135.4(FANCA):c.4317A>G (p.Arg1439=)
|
|
|
|
NM_000135.4(FANCA):c.4326T>C (p.Ala1442=)
|
rs1555532716
|
|
|
NM_000135.4(FANCA):c.432G>A (p.Lys144=)
|
|
|
|
NM_000135.4(FANCA):c.4335C>T (p.Asp1445=)
|
rs374830555
|
|
|
NM_000135.4(FANCA):c.433C>T (p.Leu145=)
|
rs2143677903
|
|
|
NM_000135.4(FANCA):c.4341C>T (p.Asp1447=)
|
|
|
|
NM_000135.4(FANCA):c.4342C>T (p.Leu1448=)
|
|
|
|
NM_000135.4(FANCA):c.4347C>A (p.Ser1449=)
|
rs2151709677
|
|
|
NM_000135.4(FANCA):c.4350G>A (p.Gln1450=)
|
rs749315540
|
|
|
NM_000135.4(FANCA):c.4362C>T (p.Leu1454=)
|
rs2151709620
|
|
|
NM_000135.4(FANCA):c.442C>T (p.Leu148=)
|
rs2040846687
|
|
|
NM_000135.4(FANCA):c.456T>A (p.Ala152=)
|
|
|
|
NM_000135.4(FANCA):c.459G>A (p.Gln153=)
|
rs2040846276
|
|
|
NM_000135.4(FANCA):c.45A>G (p.Pro15=)
|
|
|
|
NM_000135.4(FANCA):c.462T>C (p.Tyr154=)
|
rs1598190143
|
|
|
NM_000135.4(FANCA):c.471A>G (p.Ala157=)
|
rs2143677575
|
|
|
NM_000135.4(FANCA):c.474C>T (p.His158=)
|
|
|
|
NM_000135.4(FANCA):c.48G>A (p.Gly16=)
|
rs2143731322
|
|
|
NM_000135.4(FANCA):c.495C>A (p.Ser165=)
|
|
|
|
NM_000135.4(FANCA):c.495C>G (p.Ser165=)
|
|
|
|
NM_000135.4(FANCA):c.504A>G (p.Gln168=)
|
|
|
|
NM_000135.4(FANCA):c.516A>G (p.Lys172=)
|
|
|
|
NM_000135.4(FANCA):c.522+10A>C
|
rs2143676941
|
|
|
NM_000135.4(FANCA):c.522+11G>A
|
|
|
|
NM_000135.4(FANCA):c.522+13T>C
|
rs2143676888
|
|
|
NM_000135.4(FANCA):c.522+17A>C
|
|
|
|
NM_000135.4(FANCA):c.522+17_522+20del
|
|
|
|
NM_000135.4(FANCA):c.522+19del
|
|
|
|
NM_000135.4(FANCA):c.522+6dup
|
rs2143676990
|
|
|
NM_000135.4(FANCA):c.522+8T>G
|
rs764367299
|
|
|
NM_000135.4(FANCA):c.523-10T>C
|
rs776200171
|
|
|
NM_000135.4(FANCA):c.523-11T>G
|
|
|
|
NM_000135.4(FANCA):c.523-14G>C
|
rs2040744991
|
|
|
NM_000135.4(FANCA):c.523-15T>C
|
|
|
|
NM_000135.4(FANCA):c.523-18T>G
|
|
|
|
NM_000135.4(FANCA):c.523-19GTTTT[2]
|
rs755643283
|
|
|
NM_000135.4(FANCA):c.523-19_523-16del
|
rs748945841
|
|
|
NM_000135.4(FANCA):c.523-19_523-17del
|
|
|
|
NM_000135.4(FANCA):c.523-20del
|
|
|
|
NM_000135.4(FANCA):c.523-20dup
|
rs775750910
|
|
|
NM_000135.4(FANCA):c.523-24_523-10dup
|
|
|
|
NM_000135.4(FANCA):c.523-37TTGTTT[2]
|
rs530849202
|
|
|
NM_000135.4(FANCA):c.523-37TTGTTT[4]
|
|
|
|
NM_000135.4(FANCA):c.523-5_523-4dup
|
rs2143657729
|
|
|
NM_000135.4(FANCA):c.523-7T>C
|
|
|
|
NM_000135.4(FANCA):c.523-8T>C
|
rs2143657783
|
|
|
NM_000135.4(FANCA):c.523-9G>C
|
rs2143657796
|
|
|
NM_000135.4(FANCA):c.523-9_523-6del
|
rs2143657759
|
|
|
NM_000135.4(FANCA):c.523-9_523-7del
|
rs777446762
|
|
|
NM_000135.4(FANCA):c.525T>C (p.Ser175=)
|
rs2143657669
|
|
|
NM_000135.4(FANCA):c.528T>C (p.Ser176=)
|
rs902257190
|
|
|
NM_000135.4(FANCA):c.534G>A (p.Leu178=)
|
|
|
|
NM_000135.4(FANCA):c.543G>T (p.Ala181=)
|
rs143314367
|
|
|
NM_000135.4(FANCA):c.544G>A (p.Val182Met)
|
|
|
|
NM_000135.4(FANCA):c.54C>T (p.Arg18=)
|
rs1380627104
|
|
|
NM_000135.4(FANCA):c.552T>C (p.His184=)
|
rs2143657286
|
|
|
NM_000135.4(FANCA):c.558C>T (p.His186=)
|
rs149159377
|
|
|
NM_000135.4(FANCA):c.561A>G (p.Val187=)
|
rs1050053060
|
|
|
NM_000135.4(FANCA):c.564A>G (p.Gln188=)
|
rs760287473
|
|
|
NM_000135.4(FANCA):c.567C>G (p.Gly189=)
|
rs2143657102
|
|
|
NM_000135.4(FANCA):c.570T>C (p.Ile190=)
|
|
|
|
NM_000135.4(FANCA):c.573G>C (p.Val191=)
|
rs2143657009
|
|
|
NM_000135.4(FANCA):c.577C>T (p.Leu193=)
|
rs141861208
|
|
|
NM_000135.4(FANCA):c.579G>T (p.Leu193=)
|
|
|
|
NM_000135.4(FANCA):c.57G>A (p.Arg19=)
|
|
|
|
NM_000135.4(FANCA):c.586C>T (p.Leu196=)
|
rs781718994
|
|
|
NM_000135.4(FANCA):c.588G>C (p.Leu196=)
|
|
|
|
NM_000135.4(FANCA):c.588G>T (p.Leu196=)
|
rs2143656786
|
|
|
NM_000135.4(FANCA):c.596+11A>G
|
|
|
|
NM_000135.4(FANCA):c.596+17G>A
|
|
|
|
NM_000135.4(FANCA):c.596+18A>G
|
|
|
|
NM_000135.4(FANCA):c.596+20T>G
|
rs2143656568
|
|
|
NM_000135.4(FANCA):c.596+9C>T
|
|
|
|
NM_000135.4(FANCA):c.597-10G>A
|
|
|
|
NM_000135.4(FANCA):c.597-13T>G
|
rs572176378
|
|
|
NM_000135.4(FANCA):c.597-14G>A
|
|
|
|
NM_000135.4(FANCA):c.597-14G>T
|
|
|
|
NM_000135.4(FANCA):c.597-14GT[3]
|
rs751501568
|
|
|
NM_000135.4(FANCA):c.597-16C>G
|
|
|
|
NM_000135.4(FANCA):c.597-16C>T
|
|
|
|
NM_000135.4(FANCA):c.597-18C>A
|
|
|
|
NM_000135.4(FANCA):c.597-18C>T
|
|
|
|
NM_000135.4(FANCA):c.597-4C>G
|
rs2143632540
|
|
|
NM_000135.4(FANCA):c.597-6C>T
|
rs2143632553
|
|
|
NM_000135.4(FANCA):c.603C>G (p.Pro201=)
|
|
|
|
NM_000135.4(FANCA):c.60G>C (p.Arg20Ser)
|
|
|
|
NM_000135.4(FANCA):c.615T>A (p.Ala205=)
|
|
|
|
NM_000135.4(FANCA):c.617T>C (p.Val206Ala)
|
|
|
|
NM_000135.4(FANCA):c.624G>T (p.Ser208=)
|
rs922099383
|
|
|
NM_000135.4(FANCA):c.633C>T (p.Phe211=)
|
rs1162376354
|
|
|
NM_000135.4(FANCA):c.63C>G (p.Ala21=)
|
|
|
|
NM_000135.4(FANCA):c.63C>T (p.Ala21=)
|
rs973617998
|
|
|
NM_000135.4(FANCA):c.642G>A (p.Leu214=)
|
|
|
|
NM_000135.4(FANCA):c.642G>T (p.Leu214=)
|
|
|
|
NM_000135.4(FANCA):c.644G>A (p.Cys215Tyr)
|
|
|
|
NM_000135.4(FANCA):c.657A>G (p.Glu219=)
|
rs761287924
|
|
|
NM_000135.4(FANCA):c.660G>A (p.Gln220=)
|
|
|
|
NM_000135.4(FANCA):c.672C>G (p.Ser224=)
|
rs2040598879
|
|
|
NM_000135.4(FANCA):c.68C>G (p.Ala23Gly)
|
rs776297241
|
|
|
NM_000135.4(FANCA):c.68C>T (p.Ala23Val)
|
rs776297241
|
|
|
NM_000135.4(FANCA):c.690C>A (p.Val230=)
|
rs942275917
|
|
|
NM_000135.4(FANCA):c.690C>T (p.Val230=)
|
rs942275917
|
|
|
NM_000135.4(FANCA):c.69C>G (p.Ala23=)
|
rs746429608
|
|
|
NM_000135.4(FANCA):c.6C>A (p.Ser2=)
|
rs982258436
|
|
|
NM_000135.4(FANCA):c.6C>T (p.Ser2=)
|
rs982258436
|
|
|
NM_000135.4(FANCA):c.709+10T>A
|
rs2040596341
|
|
|
NM_000135.4(FANCA):c.709+11G>A
|
|
|
|
NM_000135.4(FANCA):c.709+12A>G
|
|
|
|
NM_000135.4(FANCA):c.709+13C>G
|
|
|
|
NM_000135.4(FANCA):c.709+13C>T
|
rs763207362
|
|
|
NM_000135.4(FANCA):c.709+14A>C
|
|
|
|
NM_000135.4(FANCA):c.709+14A>G
|
|
|
|
NM_000135.4(FANCA):c.709+14_709+15del
|
|
|
|
NM_000135.4(FANCA):c.709+16G>C
|
|
|
|
NM_000135.4(FANCA):c.709+19G>A
|
|
|
|
NM_000135.4(FANCA):c.709+8C>G
|
rs2143631129
|
|
|
NM_000135.4(FANCA):c.710-11T>C
|
|
|
|
NM_000135.4(FANCA):c.710-15T>A
|
|
|
|
NM_000135.4(FANCA):c.710-16T>C
|
rs2143616238
|
|
|
NM_000135.4(FANCA):c.710-20_710-19del
|
rs2040524550
|
|
|
NM_000135.4(FANCA):c.72G>A (p.Glu24=)
|
|
|
|
NM_000135.4(FANCA):c.757C>T (p.Leu253=)
|
|
|
|
NM_000135.4(FANCA):c.760A>C (p.Arg254=)
|
rs770552398
|
|
|
NM_000135.4(FANCA):c.765A>G (p.Arg255=)
|
|
|
|
NM_000135.4(FANCA):c.768T>G (p.Thr256=)
|
|
|
|
NM_000135.4(FANCA):c.76C>T (p.Leu26=)
|
rs2041137276
|
|
|
NM_000135.4(FANCA):c.774G>A (p.Glu258=)
|
|
|
|
NM_000135.4(FANCA):c.777T>A (p.Pro259=)
|
|
|
|
NM_000135.4(FANCA):c.789G>A (p.Pro263=)
|
rs34354932
|
|
|
NM_000135.4(FANCA):c.789G>T (p.Pro263=)
|
rs34354932
|
|
|
NM_000135.4(FANCA):c.78G>A (p.Leu26=)
|
rs1180368142
|
|
|
NM_000135.4(FANCA):c.79+13G>C
|
|
|
|
NM_000135.4(FANCA):c.79+14G>A
|
|
|
|
NM_000135.4(FANCA):c.79+15C>G
|
|
|
|
NM_000135.4(FANCA):c.79+15C>T
|
|
|
|
NM_000135.4(FANCA):c.79+16A>T
|
|
|
|
NM_000135.4(FANCA):c.79+17G>T
|
rs2143730538
|
|
|
NM_000135.4(FANCA):c.79+19C>T
|
|
|
|
NM_000135.4(FANCA):c.79+20C>T
|
|
|
|
NM_000135.4(FANCA):c.79+21_79+43del
|
|
|
|
NM_000135.4(FANCA):c.79+9G>A
|
rs2143730627
|
|
|
NM_000135.4(FANCA):c.792+11A>G
|
rs2143615222
|
|
|
NM_000135.4(FANCA):c.792+13G>A
|
|
|
|
NM_000135.4(FANCA):c.792+17_792+19del
|
|
|
|
NM_000135.4(FANCA):c.792+19T>C
|
|
|
|
NM_000135.4(FANCA):c.792+8G>C
|
rs2143615230
|
|
|
NM_000135.4(FANCA):c.793-10A>G
|
rs368979136
|
|
|
NM_000135.4(FANCA):c.793-12C>T
|
rs746312984
|
|
|
NM_000135.4(FANCA):c.793-16C>G
|
|
|
|
NM_000135.4(FANCA):c.793-16C>T
|
rs2040372946
|
|
|
NM_000135.4(FANCA):c.793-16_793-15del
|
|
|
|
NM_000135.4(FANCA):c.793-18C>A
|
rs776158574
|
|
|
NM_000135.4(FANCA):c.793-18C>G
|
|
|
|
NM_000135.4(FANCA):c.793-18C>T
|
rs776158574
|
|
|
NM_000135.4(FANCA):c.793-5G>A
|
|
|
|
NM_000135.4(FANCA):c.793-5G>T
|
rs1461529538
|
|
|
NM_000135.4(FANCA):c.793-6T>C
|
rs1159861002
|
|
|
NM_000135.4(FANCA):c.795_796inv (p.Thr266Ala)
|
|
|
|
NM_000135.4(FANCA):c.798G>A (p.Thr266=)
|
rs767444643
|
|
|
NM_000135.4(FANCA):c.798G>C (p.Thr266=)
|
|
|
|
NM_000135.4(FANCA):c.80-10C>G
|
|
|
|
NM_000135.4(FANCA):c.80-10C>T
|
rs771005210
|
|
|
NM_000135.4(FANCA):c.80-13C>G
|
|
|
|
NM_000135.4(FANCA):c.80-15G>A
|
|
|
|
NM_000135.4(FANCA):c.80-16C>G
|
|
|
|
NM_000135.4(FANCA):c.80-16C>T
|
|
|
|
NM_000135.4(FANCA):c.80-4G>A
|
rs747881254
|
|
|
NM_000135.4(FANCA):c.80-8C>G
|
rs749080227
|
|
|
NM_000135.4(FANCA):c.804T>C (p.Asp268=)
|
|
|
|
NM_000135.4(FANCA):c.807A>G (p.Val269=)
|
|
|
|
NM_000135.4(FANCA):c.820C>T (p.Leu274=)
|
rs2040370137
|
|
|
NM_000135.4(FANCA):c.826+11T>G
|
|
|
|
NM_000135.4(FANCA):c.826+14A>G
|
|
|
|
NM_000135.4(FANCA):c.826+15C>G
|
|
|
|
NM_000135.4(FANCA):c.826+15C>T
|
|
|
|
NM_000135.4(FANCA):c.826+17G>A
|
|
|
|
NM_000135.4(FANCA):c.826+17G>T
|
|
|
|
NM_000135.4(FANCA):c.826+8A>G
|
rs774666675
|
|
|
NM_000135.4(FANCA):c.826+9A>G
|
rs2143584994
|
|
|
NM_000135.4(FANCA):c.826+9A>T
|
rs2143584994
|
|
|
NM_000135.4(FANCA):c.827-10_827-9del
|
rs1419817251
|
|
|
NM_000135.4(FANCA):c.827-10dup
|
|
|
|
NM_000135.4(FANCA):c.827-11T>C
|
|
|
|
NM_000135.4(FANCA):c.827-11T>G
|
|
|
|
NM_000135.4(FANCA):c.827-12C>T
|
|
|
|
NM_000135.4(FANCA):c.827-20G>T
|
|
|
|
NM_000135.4(FANCA):c.827-4T>G
|
|
|
|
NM_000135.4(FANCA):c.827-5T>C
|
rs751311949
|
|
|
NM_000135.4(FANCA):c.827-6C>T
|
rs756991336
|
|
|
NM_000135.4(FANCA):c.827-9T>C
|
rs2143581941
|
|
|
NM_000135.4(FANCA):c.834T>C (p.Leu278=)
|
|
|
|
NM_000135.4(FANCA):c.843G>A (p.Leu281=)
|
|
|
|
NM_000135.4(FANCA):c.851G>C (p.Gly284Ala)
|
rs762079136
|
|
|
NM_000135.4(FANCA):c.85A>C (p.Arg29=)
|
rs2143724622
|
|
|
NM_000135.4(FANCA):c.861G>A (p.Glu287=)
|
rs2143581361
|
|
|
NM_000135.4(FANCA):c.867C>T (p.Ser289=)
|
rs1463784702
|
|
|
NM_000135.4(FANCA):c.876C>T (p.His292=)
|
rs527897404
|
|
|
NM_000135.4(FANCA):c.882C>T (p.Ile294=)
|
rs754520622
|
|
|
NM_000135.4(FANCA):c.893+11G>A
|
|
|
|
NM_000135.4(FANCA):c.893+11G>C
|
|
|
|
NM_000135.4(FANCA):c.893+11G>T
|
|
|
|
NM_000135.4(FANCA):c.893+16T>C
|
|
|
|
NM_000135.4(FANCA):c.893+20C>A
|
|
|
|
NM_000135.4(FANCA):c.893+8C>G
|
|
|
|
NM_000135.4(FANCA):c.893+8C>T
|
|
|
|
NM_000135.4(FANCA):c.894-15C>G
|
|
|
|
NM_000135.4(FANCA):c.894-16T>A
|
|
|
|
NM_000135.4(FANCA):c.894-16T>C
|
|
|
|
NM_000135.4(FANCA):c.894-19C>G
|
|
|
|
NM_000135.4(FANCA):c.894-19C>T
|
|
|
|
NM_000135.4(FANCA):c.894-4G>T
|
rs1275962279
|
|
|
NM_000135.4(FANCA):c.894-8A>C
|
rs11648881
|
|
|
NM_000135.4(FANCA):c.903G>A (p.Val301=)
|
|
|
|
NM_000135.4(FANCA):c.909T>C (p.Ser303=)
|
rs2143558882
|
|
|
NM_000135.4(FANCA):c.915C>T (p.His305=)
|
|
|
|
NM_000135.4(FANCA):c.924C>A (p.Gly308=)
|
rs143255238
|
|
|
NM_000135.4(FANCA):c.930A>G (p.Val310=)
|
|
|
|
NM_000135.4(FANCA):c.93G>A (p.Lys31=)
|
rs759630319
|
|
|
NM_000135.4(FANCA):c.93G>C (p.Lys31Asn)
|
rs759630319
|
|
|
NM_000135.4(FANCA):c.945T>C (p.Pro315=)
|
rs760583815
|
|
|
NM_000135.4(FANCA):c.948G>A (p.Leu316=)
|
rs767146506
|
|
|
NM_000135.4(FANCA):c.948G>C (p.Leu316=)
|
|
|
|
NM_000135.4(FANCA):c.954G>A (p.Arg318=)
|
|
|
|
NM_000135.4(FANCA):c.957C>T (p.Phe319=)
|
rs17226068
|
|
|
NM_000135.4(FANCA):c.960C>T (p.Phe320=)
|
|
|
|
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)
|
rs772768595
|
|
|
NM_000135.4(FANCA):c.970C>T (p.Leu324=)
|
rs1484944856
|
|
|
NM_000135.4(FANCA):c.987T>A (p.Thr329=)
|
|
|
|
NM_000135.4(FANCA):c.987T>C (p.Thr329=)
|
rs1045997042
|
|
|
NM_000135.4(FANCA):c.993C>T (p.Ser331=)
|
|
|
|
NM_000135.4(FANCA):c.999G>A (p.Val333=)
|
rs1358267888
|
|
|
NM_000135.4(FANCA):c.999G>C (p.Val333=)
|
rs1358267888
|
|
|
NM_000135.4(FANCA):c.999G>T (p.Val333=)
|
|
|
|
NM_000135.4(FANCA):c.9C>T (p.Asp3=)
|
|
|
|
NM_000136.3(FANCC):c.-14del
|
rs2136102536
|
|
|
NM_000136.3(FANCC):c.-18C>A
|
rs762660689
|
|
|
NM_000136.3(FANCC):c.-19C>A
|
rs772475410
|
|
|
NM_000136.3(FANCC):c.-21C>G
|
rs1017979233
|
|
|
NM_000136.3(FANCC):c.-21C>T
|
rs1017979233
|
|
|
NM_000136.3(FANCC):c.-33G>A
|
rs2136102765
|
|
|
NM_000136.3(FANCC):c.-34T>C
|
rs2136102771
|
|
|
NM_000136.3(FANCC):c.-36G>A
|
rs1226649340
|
|
|
NM_000136.3(FANCC):c.-44G>A
|
rs2136102852
|
|
|
NM_000136.3(FANCC):c.-49T>C
|
rs2136102893
|
|
|
NM_000136.3(FANCC):c.-52C>T
|
rs2136102913
|
|
|
NM_000136.3(FANCC):c.-62C>G
|
rs1688044477
|
|
|
NM_000136.3(FANCC):c.-65C>G
|
rs371725430
|
|
|
NM_000136.3(FANCC):c.-66C>T
|
rs1057524245
|
|
|
NM_000136.3(FANCC):c.-69G>A
|
rs1588354162
|
|
|
NM_000136.3(FANCC):c.-78-5del
|
rs2136103100
|
|
|
NM_000136.3(FANCC):c.-78-9T>C
|
rs2136103120
|
|
|
NM_000136.3(FANCC):c.-79+6C>T
|
rs2136456999
|
|
|
NM_000136.3(FANCC):c.-79+7G>A
|
rs551170090
|
|
|
NM_000136.3(FANCC):c.-79+7G>C
|
rs551170090
|
|
|
NM_000136.3(FANCC):c.-79+8_-79+18del
|
rs2136456958
|
|
|
NM_000136.3(FANCC):c.1008A>C (p.Ala336=)
|
|
|
|
NM_000136.3(FANCC):c.1008A>G (p.Ala336=)
|
rs1588070906
|
|
|
NM_000136.3(FANCC):c.1014G>A (p.Lys338=)
|
rs780776360
|
|
|
NM_000136.3(FANCC):c.1017C>A (p.Thr339=)
|
rs754772354
|
|
|
NM_000136.3(FANCC):c.1023T>C (p.Phe341=)
|
rs758439579
|
|
|
NM_000136.3(FANCC):c.1029C>T (p.Tyr343=)
|
rs2072504418
|
|
|
NM_000136.3(FANCC):c.102C>G (p.Thr34=)
|
rs2136101018
|
|
|
NM_000136.3(FANCC):c.1032T>C (p.Thr344=)
|
rs2134693062
|
|
|
NM_000136.3(FANCC):c.1053G>A (p.Val351=)
|
rs1301137678
|
|
|
NM_000136.3(FANCC):c.1057C>T (p.Leu353=)
|
|
|
|
NM_000136.3(FANCC):c.1059G>A (p.Leu353=)
|
rs1588070620
|
|
|
NM_000136.3(FANCC):c.1059G>T (p.Leu353=)
|
rs1588070620
|
|
|
NM_000136.3(FANCC):c.1068T>A (p.Pro356=)
|
|
|
|
NM_000136.3(FANCC):c.1072+20G>A
|
rs773767586
|
|
|
NM_000136.3(FANCC):c.1072+9G>A
|
rs2072499164
|
|
|
NM_000136.3(FANCC):c.1073-10C>T
|
rs2134632915
|
|
|
NM_000136.3(FANCC):c.1073-15T>G
|
|
|
|
NM_000136.3(FANCC):c.1073-18A>C
|
rs876661081
|
|
|
NM_000136.3(FANCC):c.1073-19T>C
|
|
|
|
NM_000136.3(FANCC):c.1073-6C>T
|
|
|
|
NM_000136.3(FANCC):c.1073-9C>T
|
|
|
|
NM_000136.3(FANCC):c.1080T>G (p.Pro360=)
|
|
|
|
NM_000136.3(FANCC):c.1086A>G (p.Gly362=)
|
rs2134632077
|
|
|
NM_000136.3(FANCC):c.1089C>T (p.His363=)
|
rs2134631925
|
|
|
NM_000136.3(FANCC):c.1095C>G (p.Leu365=)
|
rs1057521687
|
|
|
NM_000136.3(FANCC):c.1095C>T (p.Leu365=)
|
rs1057521687
|
|
|
NM_000136.3(FANCC):c.1098G>A (p.Gln366=)
|
rs1564652354
|
|
|
NM_000136.3(FANCC):c.1101A>C (p.Thr367=)
|
|
|
|
NM_000136.3(FANCC):c.1104G>T (p.Leu368=)
|
|
|
|
NM_000136.3(FANCC):c.1107G>A (p.Lys369=)
|
rs1321399501
|
|
|
NM_000136.3(FANCC):c.1125C>G (p.Leu375=)
|
rs2134631148
|
|
|
NM_000136.3(FANCC):c.1126A>C (p.Arg376=)
|
|
|
|
NM_000136.3(FANCC):c.1134A>T (p.Ala378=)
|
|
|
|
NM_000136.3(FANCC):c.1154+11A>G
|
|
|
|
NM_000136.3(FANCC):c.1154+12C>T
|
|
|
|
NM_000136.3(FANCC):c.1154+13T>G
|
|
|
|
NM_000136.3(FANCC):c.1154+14G>A
|
rs751776859
|
|
|
NM_000136.3(FANCC):c.1154+17C>T
|
rs1356928463
|
|
|
NM_000136.3(FANCC):c.1154+19C>T
|
|
|
|
NM_000136.3(FANCC):c.1154+20T>G
|
|
|
|
NM_000136.3(FANCC):c.1154+8A>G
|
rs2134630249
|
|
|
NM_000136.3(FANCC):c.1154+9A>G
|
|
|
|
NM_000136.3(FANCC):c.1155-12C>T
|
|
|
|
NM_000136.3(FANCC):c.1155-13G>A
|
|
|
|
NM_000136.3(FANCC):c.1155-13G>C
|
rs747142087
|
|
|
NM_000136.3(FANCC):c.1155-14T>G
|
rs2134552606
|
|
|
NM_000136.3(FANCC):c.1155-18G>C
|
|
|
|
NM_000136.3(FANCC):c.1155-7G>A
|
|
|
|
NM_000136.3(FANCC):c.1155-7G>C
|
rs2071943921
|
|
|
NM_000136.3(FANCC):c.1155-8del
|
rs2071944189
|
|
|
NM_000136.3(FANCC):c.1170C>G (p.Pro390=)
|
rs878853668
|
|
|
NM_000136.3(FANCC):c.1170C>T (p.Pro390=)
|
rs878853668
|
|
|
NM_000136.3(FANCC):c.117T>G (p.Ala39=)
|
|
|
|
NM_000136.3(FANCC):c.1188G>A (p.Leu396=)
|
rs2134551050
|
|
|
NM_000136.3(FANCC):c.1191C>T (p.Phe397=)
|
|
|
|
NM_000136.3(FANCC):c.1200C>T (p.Phe400=)
|
rs767215159
|
|
|
NM_000136.3(FANCC):c.120G>A (p.Gln40=)
|
rs905858585
|
|
|
NM_000136.3(FANCC):c.1212T>C (p.Ala404=)
|
rs2134550393
|
|
|
NM_000136.3(FANCC):c.1227G>A (p.Glu409=)
|
rs2134549988
|
|
|
NM_000136.3(FANCC):c.1234C>T (p.Leu412=)
|
|
|
|
NM_000136.3(FANCC):c.1248C>G (p.Ala416=)
|
rs747051975
|
|
|
NM_000136.3(FANCC):c.1254C>T (p.Pro418=)
|
rs1057521431
|
|
|
NM_000136.3(FANCC):c.1257C>A (p.Pro419=)
|
rs878853669
|
|
|
NM_000136.3(FANCC):c.1257C>G (p.Pro419=)
|
rs878853669
|
|
|
NM_000136.3(FANCC):c.1260G>A (p.Thr420=)
|
rs749709412
|
|
|
NM_000136.3(FANCC):c.1260G>T (p.Thr420=)
|
|
|
|
NM_000136.3(FANCC):c.1264C>A (p.Leu422Met)
|
rs756716463
|
|
|
NM_000136.3(FANCC):c.1264C>T (p.Leu422=)
|
rs756716463
|
|
|
NM_000136.3(FANCC):c.126G>A (p.Gln42=)
|
rs1831173438
|
|
|
NM_000136.3(FANCC):c.1275C>T (p.Leu425=)
|
|
|
|
NM_000136.3(FANCC):c.1293C>A (p.Gly431=)
|
rs1330163328
|
|
|
NM_000136.3(FANCC):c.1299T>G (p.Arg433=)
|
rs2134547152
|
|
|
NM_000136.3(FANCC):c.129G>A (p.Glu43=)
|
rs1246204881
|
|
|
NM_000136.3(FANCC):c.1308G>A (p.Arg436=)
|
|
|
|
NM_000136.3(FANCC):c.1311G>A (p.Gln437=)
|
rs1588047742
|
|
|
NM_000136.3(FANCC):c.1329+10A>G
|
rs977427150
|
|
|
NM_000136.3(FANCC):c.1329+11G>A
|
|
|
|
NM_000136.3(FANCC):c.1329+15C>T
|
|
|
|
NM_000136.3(FANCC):c.1329+16C>T
|
|
|
|
NM_000136.3(FANCC):c.1329+18C>T
|
|
|
|
NM_000136.3(FANCC):c.132C>T (p.Phe44=)
|
rs2136100617
|
|
|
NM_000136.3(FANCC):c.1330-12_1330-8del
|
|
|
|
NM_000136.3(FANCC):c.1330-13T>A
|
|
|
|
NM_000136.3(FANCC):c.1330-13T>C
|
|
|
|
NM_000136.3(FANCC):c.1330-19_1330-10del
|
rs1389222142
|
|
|
NM_000136.3(FANCC):c.1330-7T>C
|
|
|
|
NM_000136.3(FANCC):c.1330-8T>C
|
rs864622221
|
|
|
NM_000136.3(FANCC):c.1332C>T (p.Val444=)
|
|
|
|
NM_000136.3(FANCC):c.133C>T (p.Leu45=)
|
rs1588353394
|
|
|
NM_000136.3(FANCC):c.1359C>T (p.Leu453=)
|
|
|
|
NM_000136.3(FANCC):c.135A>G (p.Leu45=)
|
|
|
|
NM_000136.3(FANCC):c.1371C>G (p.Ser457=)
|
rs2134456187
|
|
|
NM_000136.3(FANCC):c.1371C>T (p.Ser457=)
|
rs2134456187
|
|
|
NM_000136.3(FANCC):c.1377C>T (p.Ser459=)
|
|
|
|
NM_000136.3(FANCC):c.1389A>G (p.Ser463=)
|
|
|
|
NM_000136.3(FANCC):c.138G>A (p.Arg46=)
|
rs1057521212
|
|
|
NM_000136.3(FANCC):c.1395G>A (p.Gln465=)
|
|
|
|
NM_000136.3(FANCC):c.1437C>G (p.Leu479=)
|
|
|
|
NM_000136.3(FANCC):c.1440A>G (p.Arg480=)
|
rs757477758
|
|
|
NM_000136.3(FANCC):c.1446T>C (p.Pro482=)
|
rs754079401
|
|
|
NM_000136.3(FANCC):c.1455G>A (p.Gln485=)
|
rs2134455295
|
|
|
NM_000136.3(FANCC):c.1458G>C (p.Leu486=)
|
rs1588029111
|
|
|
NM_000136.3(FANCC):c.1458G>T (p.Leu486=)
|
rs1588029111
|
|
|
NM_000136.3(FANCC):c.1464G>A (p.Arg488=)
|
|
|
|
NM_000136.3(FANCC):c.1467C>T (p.His489=)
|
rs1554828385
|
|
|
NM_000136.3(FANCC):c.1473C>T (p.Leu491=)
|
|
|
|
NM_000136.3(FANCC):c.147T>C (p.Tyr49=)
|
rs1462121358
|
|
|
NM_000136.3(FANCC):c.1483C>T (p.Leu495=)
|
rs2134454968
|
|
|
NM_000136.3(FANCC):c.1485G>C (p.Leu495=)
|
rs56082100
|
|
|
NM_000136.3(FANCC):c.1488C>T (p.Leu496=)
|
rs1057520505
|
|
|
NM_000136.3(FANCC):c.1497T>C (p.Pro499=)
|
|
|
|
NM_000136.3(FANCC):c.1503C>T (p.Gly501=)
|
rs2134454633
|
|
|
NM_000136.3(FANCC):c.1524C>T (p.Val508=)
|
rs765766432
|
|
|
NM_000136.3(FANCC):c.1527C>T (p.Ile509=)
|
rs1554828322
|
|
|
NM_000136.3(FANCC):c.1530C>G (p.Thr510=)
|
rs372199352
|
|
|
NM_000136.3(FANCC):c.1531C>T (p.Leu511=)
|
rs1588028784
|
|
|
NM_000136.3(FANCC):c.1533+11C>T
|
|
|
|
NM_000136.3(FANCC):c.1533+12del
|
|
|
|
NM_000136.3(FANCC):c.1533+17T>C
|
|
|
|
NM_000136.3(FANCC):c.1533+7C>A
|
|
|
|
NM_000136.3(FANCC):c.1533+7C>T
|
|
|
|
NM_000136.3(FANCC):c.1533+8T>C
|
rs2134454126
|
|
|
NM_000136.3(FANCC):c.1533+9C>T
|
rs863224323
|
|
|
NM_000136.3(FANCC):c.1534-10C>G
|
rs1356632872
|
|
|
NM_000136.3(FANCC):c.1534-13G>T
|
|
|
|
NM_000136.3(FANCC):c.1534-15C>T
|
|
|
|
NM_000136.3(FANCC):c.1534-17T>C
|
|
|
|
NM_000136.3(FANCC):c.1534-19T>C
|
|
|
|
NM_000136.3(FANCC):c.1534-5T>C
|
rs730881727
|
|
|
NM_000136.3(FANCC):c.1534-5del
|
rs748342368
|
|
|
NM_000136.3(FANCC):c.1534-8G>T
|
rs2071090579
|
|
|
NM_000136.3(FANCC):c.1539T>C (p.Ala513=)
|
rs2134383837
|
|
|
NM_000136.3(FANCC):c.156G>A (p.Leu52=)
|
rs1060502518
|
|
|
NM_000136.3(FANCC):c.1572C>A (p.Gly524=)
|
|
|
|
NM_000136.3(FANCC):c.1572C>T (p.Gly524=)
|
rs2134383478
|
|
|
NM_000136.3(FANCC):c.1578T>A (p.Leu526=)
|
|
|
|
NM_000136.3(FANCC):c.1587C>G (p.Thr529=)
|
rs1015147630
|
|
|
NM_000136.3(FANCC):c.1596A>G (p.Arg532=)
|
rs1588008241
|
|
|
NM_000136.3(FANCC):c.15A>T (p.Ser5=)
|
|
|
|
NM_000136.3(FANCC):c.1602T>C (p.Asn534=)
|
|
|
|
NM_000136.3(FANCC):c.1608T>C (p.Leu536=)
|
|
|
|
NM_000136.3(FANCC):c.1620C>T (p.Ser540=)
|
|
|
|
NM_000136.3(FANCC):c.1626A>G (p.Arg542=)
|
|
|
|
NM_000136.3(FANCC):c.1629A>G (p.Ser543=)
|
rs1352980665
|
|
|
NM_000136.3(FANCC):c.162G>A (p.Glu54=)
|
|
|
|
NM_000136.3(FANCC):c.1638G>A (p.Leu546=)
|
rs1429537932
|
|
|
NM_000136.3(FANCC):c.165+14C>A
|
|
|
|
NM_000136.3(FANCC):c.165+14C>T
|
|
|
|
NM_000136.3(FANCC):c.165+15A>G
|
|
|
|
NM_000136.3(FANCC):c.165+17A>C
|
|
|
|
NM_000136.3(FANCC):c.165+18A>C
|
|
|
|
NM_000136.3(FANCC):c.165+18A>G
|
|
|
|
NM_000136.3(FANCC):c.165+9T>A
|
rs1326163629
|
|
|
NM_000136.3(FANCC):c.166-10T>C
|
rs2136091541
|
|
|
NM_000136.3(FANCC):c.166-20A>G
|
|
|
|
NM_000136.3(FANCC):c.166-6T>C
|
rs1254372586
|
|
|
NM_000136.3(FANCC):c.166-9C>T
|
rs372507085
|
|
|
NM_000136.3(FANCC):c.1663C>A (p.Arg555=)
|
rs370974124
|
|
|
NM_000136.3(FANCC):c.1668T>C (p.Thr556=)
|
|
|
|
NM_000136.3(FANCC):c.177A>T (p.Thr59=)
|
|
|
|
NM_000136.3(FANCC):c.204T>G (p.Gly68=)
|
rs2136091102
|
|
|
NM_000136.3(FANCC):c.207A>G (p.Gln69=)
|
rs1554857834
|
|
|
NM_000136.3(FANCC):c.211T>C (p.Leu71=)
|
rs1159035875
|
|
|
NM_000136.3(FANCC):c.222T>C (p.Ala74=)
|
rs1554857821
|
|
|
NM_000136.3(FANCC):c.234T>G (p.Pro78=)
|
rs1588350226
|
|
|
NM_000136.3(FANCC):c.240T>C (p.Ile80=)
|
rs1554857813
|
|
|
NM_000136.3(FANCC):c.246A>T (p.Ala82=)
|
rs1554857810
|
|
|
NM_000136.3(FANCC):c.250+10A>T
|
rs2136090521
|
|
|
NM_000136.3(FANCC):c.250+8T>A
|
|
|
|
NM_000136.3(FANCC):c.250+9C>A
|
rs1831054662
|
|
|
NM_000136.3(FANCC):c.251-10C>G
|
rs2136049759
|
|
|
NM_000136.3(FANCC):c.251-10C>T
|
rs2136049759
|
|
|
NM_000136.3(FANCC):c.251-12T>G
|
rs1397340091
|
|
|
NM_000136.3(FANCC):c.251-4G>A
|
|
|
|
NM_000136.3(FANCC):c.251-5T>C
|
rs2136049740
|
|
|
NM_000136.3(FANCC):c.279C>T (p.Cys93=)
|
rs770743418
|
|
|
NM_000136.3(FANCC):c.27T>C (p.Ser9=)
|
rs2136101890
|
|
|
NM_000136.3(FANCC):c.288T>C (p.Cys96=)
|
rs864622349
|
|
|
NM_000136.3(FANCC):c.294T>C (p.Ile98=)
|
rs2136049291
|
|
|
NM_000136.3(FANCC):c.303A>G (p.Glu101=)
|
|
|
|
NM_000136.3(FANCC):c.306A>G (p.Pro102=)
|
rs1830582695
|
|
|
NM_000136.3(FANCC):c.30T>C (p.Cys10=)
|
|
|
|
NM_000136.3(FANCC):c.315T>C (p.Ser105=)
|
rs749048345
|
|
|
NM_000136.3(FANCC):c.330T>C (p.Leu110=)
|
rs2136048963
|
|
|
NM_000136.3(FANCC):c.333C>T (p.Asn111=)
|
rs2136048913
|
|
|
NM_000136.3(FANCC):c.336C>T (p.Ser112=)
|
rs1057521125
|
|
|
NM_000136.3(FANCC):c.345+18G>T
|
rs765413863
|
|
|
NM_000136.3(FANCC):c.345+19C>T
|
|
|
|
NM_000136.3(FANCC):c.345+4AG[2]
|
rs755657969
|
|
|
NM_000136.3(FANCC):c.345+9G>T
|
rs2136048623
|
|
|
NM_000136.3(FANCC):c.345+9_345+11del
|
rs1693164213
|
|
|
NM_000136.3(FANCC):c.346-10T>C
|
|
|
|
NM_000136.3(FANCC):c.346-11_346-10del
|
rs863224324
|
|
|
NM_000136.3(FANCC):c.346-12T>A
|
|
|
|
NM_000136.3(FANCC):c.346-14T>G
|
|
|
|
NM_000136.3(FANCC):c.346-7T>A
|
|
|
|
NM_000136.3(FANCC):c.346-7T>G
|
rs1588220867
|
|
|
NM_000136.3(FANCC):c.346-9G>C
|
rs2135589079
|
|
|
NM_000136.3(FANCC):c.351A>T (p.Val117=)
|
rs754914546
|
|
|
NM_000136.3(FANCC):c.354A>G (p.Leu118=)
|
|
|
|
NM_000136.3(FANCC):c.372A>G (p.Ala124=)
|
|
|
|
NM_000136.3(FANCC):c.375C>G (p.Leu125=)
|
|
|
|
NM_000136.3(FANCC):c.387A>G (p.Lys129=)
|
|
|
|
NM_000136.3(FANCC):c.390A>G (p.Glu130=)
|
rs1419677503
|
|
|
NM_000136.3(FANCC):c.396T>A (p.Ala132=)
|
rs1482798473
|
|
|
NM_000136.3(FANCC):c.396T>C (p.Ala132=)
|
|
|
|
NM_000136.3(FANCC):c.399T>G (p.Leu133=)
|
rs864622764
|
|
|
NM_000136.3(FANCC):c.417G>A (p.Gly139=)
|
|
|
|
NM_000136.3(FANCC):c.417G>T (p.Gly139=)
|
rs190925189
|
|
|
NM_000136.3(FANCC):c.423A>C (p.Ala141=)
|
|
|
|
NM_000136.3(FANCC):c.423A>T (p.Ala141=)
|
|
|
|
NM_000136.3(FANCC):c.42T>C (p.Phe14=)
|
rs760653185
|
|
|
NM_000136.3(FANCC):c.445T>C (p.Leu149=)
|
rs2135587533
|
|
|
NM_000136.3(FANCC):c.456+12A>C
|
|
|
|
NM_000136.3(FANCC):c.456+16T>G
|
|
|
|
NM_000136.3(FANCC):c.456+20C>T
|
rs1057520283
|
|
|
NM_000136.3(FANCC):c.456+8T>G
|
rs761639538
|
|
|
NM_000136.3(FANCC):c.457-12T>G
|
rs188659251
|
|
|
NM_000136.3(FANCC):c.457-15G>A
|
|
|
|
NM_000136.3(FANCC):c.457-17C>T
|
|
|
|
NM_000136.3(FANCC):c.457-4A>G
|
|
|
|
NM_000136.3(FANCC):c.463T>C (p.Leu155=)
|
rs2135579789
|
|
|
NM_000136.3(FANCC):c.469T>C (p.Leu157=)
|
rs1825652301
|
|
|
NM_000136.3(FANCC):c.474G>C (p.Ala158=)
|
|
|
|
NM_000136.3(FANCC):c.477T>C (p.Ser159=)
|
|
|
|
NM_000136.3(FANCC):c.495T>C (p.His165=)
|
rs2135578887
|
|
|
NM_000136.3(FANCC):c.498T>A (p.Leu166=)
|
|
|
|
NM_000136.3(FANCC):c.516A>G (p.Gln172=)
|
rs748322179
|
|
|
NM_000136.3(FANCC):c.51G>A (p.Gln17=)
|
rs2136101629
|
|
|
NM_000136.3(FANCC):c.521+11A>C
|
|
|
|
NM_000136.3(FANCC):c.521+12A>G
|
|
|
|
NM_000136.3(FANCC):c.521+14T>G
|
|
|
|
NM_000136.3(FANCC):c.521+15A>G
|
|
|
|
NM_000136.3(FANCC):c.521+17A>T
|
|
|
|
NM_000136.3(FANCC):c.521+20T>G
|
|
|
|
NM_000136.3(FANCC):c.521+7G>A
|
|
|
|
NM_000136.3(FANCC):c.522-6C>T
|
rs763869417
|
|
|
NM_000136.3(FANCC):c.522-7del
|
|
|
|
NM_000136.3(FANCC):c.522-9C>A
|
|
|
|
NM_000136.3(FANCC):c.522-9C>G
|
|
|
|
NM_000136.3(FANCC):c.540G>A (p.Val180=)
|
rs2135428712
|
|
|
NM_000136.3(FANCC):c.546C>G (p.Ser182=)
|
|
|
|
NM_000136.3(FANCC):c.547C>T (p.Leu183=)
|
rs1554838616
|
|
|
NM_000136.3(FANCC):c.549G>T (p.Leu183=)
|
rs863224611
|
|
|
NM_000136.3(FANCC):c.552A>G (p.Ser184=)
|
rs2135428471
|
|
|
NM_000136.3(FANCC):c.577C>T (p.Leu193=)
|
rs2135427993
|
|
|
NM_000136.3(FANCC):c.591C>T (p.Asp197=)
|
rs1457631500
|
|
|
NM_000136.3(FANCC):c.594C>G (p.Pro198=)
|
|
|
|
NM_000136.3(FANCC):c.60T>C (p.Ser20=)
|
rs2136101529
|
|
|
NM_000136.3(FANCC):c.615C>A (p.Ile205=)
|
|
|
|
NM_000136.3(FANCC):c.621T>C (p.His207=)
|
rs1588181585
|
|
|
NM_000136.3(FANCC):c.633T>C (p.Pro211=)
|
rs2135427041
|
|
|
NM_000136.3(FANCC):c.63A>G (p.Val21=)
|
rs1477321622
|
|
|
NM_000136.3(FANCC):c.642C>A (p.Ile214=)
|
rs777274497
|
|
|
NM_000136.3(FANCC):c.642C>T (p.Ile214=)
|
rs777274497
|
|
|
NM_000136.3(FANCC):c.645C>T (p.Leu215=)
|
|
|
|
NM_000136.3(FANCC):c.648G>A (p.Gln216=)
|
|
|
|
NM_000136.3(FANCC):c.651A>G (p.Pro217=)
|
|
|
|
NM_000136.3(FANCC):c.657C>T (p.Phe219=)
|
rs2135426603
|
|
|
NM_000136.3(FANCC):c.663G>A (p.Glu221=)
|
rs2135426464
|
|
|
NM_000136.3(FANCC):c.666T>C (p.Ala222=)
|
rs2135426385
|
|
|
NM_000136.3(FANCC):c.669A>G (p.Val223=)
|
rs1588181348
|
|
|
NM_000136.3(FANCC):c.686+10A>G
|
rs2135425899
|
|
|
NM_000136.3(FANCC):c.686+13T>C
|
|
|
|
NM_000136.3(FANCC):c.686+16T>G
|
rs774813556
|
|
|
NM_000136.3(FANCC):c.686+17T>C
|
|
|
|
NM_000136.3(FANCC):c.687-11C>A
|
|
|
|
NM_000136.3(FANCC):c.687-12T>G
|
|
|
|
NM_000136.3(FANCC):c.687-14T>A
|
|
|
|
NM_000136.3(FANCC):c.687-15A>G
|
|
|
|
NM_000136.3(FANCC):c.687-16T>C
|
|
|
|
NM_000136.3(FANCC):c.687-17T>G
|
|
|
|
NM_000136.3(FANCC):c.687-19_687-16del
|
|
|
|
NM_000136.3(FANCC):c.687-4A>G
|
rs2135168785
|
|
|
NM_000136.3(FANCC):c.687-6T>C
|
rs2135168920
|
|
|
NM_000136.3(FANCC):c.687-6T>G
|
|
|
|
NM_000136.3(FANCC):c.687-6dup
|
|
|
|
NM_000136.3(FANCC):c.687-9T>G
|
rs2135169028
|
|
|
NM_000136.3(FANCC):c.6T>C (p.Ala2=)
|
rs376084231
|
|
|
NM_000136.3(FANCC):c.711A>G (p.Ser237=)
|
|
|
|
NM_000136.3(FANCC):c.720C>A (p.Val240=)
|
rs1444550098
|
|
|
NM_000136.3(FANCC):c.735G>A (p.Arg245=)
|
rs1174763492
|
|
|
NM_000136.3(FANCC):c.738C>T (p.His246=)
|
rs1414558793
|
|
|
NM_000136.3(FANCC):c.744C>G (p.Pro248=)
|
rs758201013
|
|
|
NM_000136.3(FANCC):c.744C>T (p.Pro248=)
|
rs758201013
|
|
|
NM_000136.3(FANCC):c.753A>G (p.Glu251=)
|
|
|
|
NM_000136.3(FANCC):c.759A>T (p.Ala253=)
|
|
|
|
NM_000136.3(FANCC):c.765G>A (p.Leu255=)
|
rs1588134446
|
|
|
NM_000136.3(FANCC):c.783A>C (p.Leu261=)
|
rs1060504646
|
|
|
NM_000136.3(FANCC):c.783A>G (p.Leu261=)
|
rs1060504646
|
|
|
NM_000136.3(FANCC):c.78C>T (p.Ser26=)
|
|
|
|
NM_000136.3(FANCC):c.798A>G (p.Arg266=)
|
|
|
|
NM_000136.3(FANCC):c.804T>C (p.Cys268=)
|
|
|
|
NM_000136.3(FANCC):c.807G>A (p.Leu269=)
|
rs2135165808
|
|
|
NM_000136.3(FANCC):c.819A>G (p.Glu273=)
|
|
|
|
NM_000136.3(FANCC):c.834T>C (p.Asp278=)
|
rs1259273920
|
|
|
NM_000136.3(FANCC):c.837A>G (p.Ser279=)
|
|
|
|
NM_000136.3(FANCC):c.840G>C (p.Ser280=)
|
|
|
|
NM_000136.3(FANCC):c.840G>T (p.Ser280=)
|
rs34671520
|
|
|
NM_000136.3(FANCC):c.843+12G>A
|
rs2135164340
|
|
|
NM_000136.3(FANCC):c.843+16T>C
|
|
|
|
NM_000136.3(FANCC):c.843+19_843+20insTTTT
|
|
|
|
NM_000136.3(FANCC):c.843+20G>A
|
|
|
|
NM_000136.3(FANCC):c.844-10C>T
|
rs1588106888
|
|
|
NM_000136.3(FANCC):c.844-10_844-8del
|
rs758617953
|
|
|
NM_000136.3(FANCC):c.844-15C>T
|
|
|
|
NM_000136.3(FANCC):c.844-18G>A
|
|
|
|
NM_000136.3(FANCC):c.844-20A>G
|
|
|
|
NM_000136.3(FANCC):c.844-6T>C
|
rs1417324884
|
|
|
NM_000136.3(FANCC):c.844-7T>C
|
|
|
|
NM_000136.3(FANCC):c.844-8T>C
|
rs2134968959
|
|
|
NM_000136.3(FANCC):c.844-9C>G
|
|
|
|
NM_000136.3(FANCC):c.867C>T (p.Ala289=)
|
rs1588106727
|
|
|
NM_000136.3(FANCC):c.873C>T (p.Phe291=)
|
rs2134967899
|
|
|
NM_000136.3(FANCC):c.876G>T (p.Arg292=)
|
rs1215600153
|
|
|
NM_000136.3(FANCC):c.879T>G (p.Val293=)
|
|
|
|
NM_000136.3(FANCC):c.885T>C (p.Asp295=)
|
|
|
|
NM_000136.3(FANCC):c.888G>A (p.Glu296=)
|
rs779166059
|
|
|
NM_000136.3(FANCC):c.896+10A>C
|
|
|
|
NM_000136.3(FANCC):c.896+13_896+48del
|
rs749142233
|
|
|
NM_000136.3(FANCC):c.896+14T>C
|
rs2134966492
|
|
|
NM_000136.3(FANCC):c.896+16T>C
|
rs764624750
|
|
|
NM_000136.3(FANCC):c.896+19C>T
|
|
|
|
NM_000136.3(FANCC):c.896+7G>A
|
rs1554833182
|
|
|
NM_000136.3(FANCC):c.897-11G>T
|
|
|
|
NM_000136.3(FANCC):c.897-20T>A
|
|
|
|
NM_000136.3(FANCC):c.897-6G>A
|
rs2134925431
|
|
|
NM_000136.3(FANCC):c.897-7dup
|
|
|
|
NM_000136.3(FANCC):c.900T>C (p.Cys300=)
|
|
|
|
NM_000136.3(FANCC):c.903A>G (p.Ala301=)
|
rs1825785279
|
|
|
NM_000136.3(FANCC):c.906C>T (p.Leu302=)
|
rs766079351
|
|
|
NM_000136.3(FANCC):c.909G>C (p.Leu303=)
|
rs1588100992
|
|
|
NM_000136.3(FANCC):c.90C>A (p.Thr30=)
|
rs756684704
|
|
|
NM_000136.3(FANCC):c.90C>G (p.Thr30=)
|
rs756684704
|
|
|
NM_000136.3(FANCC):c.915C>G (p.Thr305=)
|
|
|
|
NM_000136.3(FANCC):c.921G>A (p.Gly307=)
|
rs1410236696
|
|
|
NM_000136.3(FANCC):c.924C>T (p.Ala308=)
|
rs864622225
|
|
|
NM_000136.3(FANCC):c.957G>T (p.Thr319=)
|
rs1060504647
|
|
|
NM_000136.3(FANCC):c.960G>A (p.Gln320=)
|
|
|
|
NM_000136.3(FANCC):c.972A>G (p.Glu324=)
|
rs1261385032
|
|
|
NM_000136.3(FANCC):c.975T>C (p.Ala325=)
|
|
|
|
NM_000136.3(FANCC):c.981G>A (p.Glu327=)
|
rs2134922117
|
|
|
NM_000136.3(FANCC):c.996+11T>C
|
|
|
|
NM_000136.3(FANCC):c.996+18T>C
|
|
|
|
NM_000136.3(FANCC):c.996+19A>G
|
rs2134920464
|
|
|
NM_000136.3(FANCC):c.996+8A>T
|
|
|
|
NM_000136.3(FANCC):c.996+8dup
|
|
|
|
NM_000136.3(FANCC):c.996+9T>A
|
rs757984397
|
|
|
NM_000136.3(FANCC):c.996+9T>C
|
rs757984397
|
|
|
NM_000136.3(FANCC):c.997-14C>A
|
|
|
|
NM_000136.3(FANCC):c.997-15T>C
|
rs922997650
|
|
|
NM_000136.3(FANCC):c.997-5G>T
|
|
|
|
NM_000136.3(FANCC):c.997-64_997-16dup
|
|
|
|
NM_000474.4(TWIST1):c.180C>T (p.Val60=)
|
rs565371578
|
|
|
NM_000474.4(TWIST1):c.245GCG[6] (p.Gly86dup)
|
rs754552080
|
|
|
NM_000474.4(TWIST1):c.264C>T (p.Gly88=)
|
|
|
|
NM_000474.4(TWIST1):c.309C>T (p.Tyr103=)
|
|
|
|
NM_000474.4(TWIST1):c.33G>T (p.Ser11=)
|
rs1554442101
|
|
|
NM_000474.4(TWIST1):c.51G>C (p.Leu17=)
|
|
|
|
NM_000474.4(TWIST1):c.600G>C (p.Ala200=)
|
|
|
|
NM_000751.3(CHRND):c.1026G>A (p.Val342=)
|
rs1574634359
|
|
|
NM_000751.3(CHRND):c.1047+10T>C
|
rs2106211747
|
|
|
NM_000751.3(CHRND):c.1047+15C>T
|
|
|
|
NM_000751.3(CHRND):c.1047+17G>A
|
rs997482710
|
|
|
NM_000751.3(CHRND):c.1047+20C>T
|
|
|
|
NM_000751.3(CHRND):c.1048-12A>G
|
|
|
|
NM_000751.3(CHRND):c.1056G>T (p.Leu352=)
|
|
|
|
NM_000751.3(CHRND):c.1068G>A (p.Pro356=)
|
|
|
|
NM_000751.3(CHRND):c.108G>A (p.Lys36=)
|
rs2106206094
|
|
|
NM_000751.3(CHRND):c.1122G>T (p.Leu374=)
|
rs1438844656
|
|
|
NM_000751.3(CHRND):c.1155C>T (p.Ser385=)
|
rs2106214377
|
|
|
NM_000751.3(CHRND):c.1161C>G (p.Ala387=)
|
rs376017740
|
|
|
NM_000751.3(CHRND):c.1161C>T (p.Ala387=)
|
rs376017740
|
|
|
NM_000751.3(CHRND):c.1197C>A (p.Leu399=)
|
rs2106214422
|
|
|
NM_000751.3(CHRND):c.1203C>T (p.Phe401=)
|
rs138405676
|
|
|
NM_000751.3(CHRND):c.1233C>T (p.Ala411=)
|
rs1553575402
|
|
|
NM_000751.3(CHRND):c.1252+16T>A
|
|
|
|
NM_000751.3(CHRND):c.1252+9C>A
|
|
|
|
NM_000751.3(CHRND):c.1253-11C>A
|
|
|
|
NM_000751.3(CHRND):c.1253-11C>G
|
|
|
|
NM_000751.3(CHRND):c.1253-13C>A
|
|
|
|
NM_000751.3(CHRND):c.1305G>A (p.Leu435=)
|
|
|
|
NM_000751.3(CHRND):c.1371+17T>C
|
|
|
|
NM_000751.3(CHRND):c.1407G>A (p.Val469=)
|
|
|
|
NM_000751.3(CHRND):c.1413C>G (p.Arg471=)
|
rs766187603
|
|
|
NM_000751.3(CHRND):c.1422G>A (p.Leu474=)
|
|
|
|
NM_000751.3(CHRND):c.1428G>A (p.Val476=)
|
|
|
|
NM_000751.3(CHRND):c.1455A>G (p.Thr485=)
|
rs756537437
|
|
|
NM_000751.3(CHRND):c.1482C>T (p.Tyr494=)
|
|
|
|
NM_000751.3(CHRND):c.1494A>G (p.Pro498=)
|
|
|
|
NM_000751.3(CHRND):c.174C>A (p.Leu58=)
|
|
|
|
NM_000751.3(CHRND):c.180C>T (p.Leu60=)
|
|
|
|
NM_000751.3(CHRND):c.198+12_198+13insA
|
|
|
|
NM_000751.3(CHRND):c.198+13C>G
|
|
|
|
NM_000751.3(CHRND):c.199-13C>T
|
|
|
|
NM_000751.3(CHRND):c.199-8A>G
|
rs2106207309
|
|
|
NM_000751.3(CHRND):c.231G>A (p.Val77=)
|
|
|
|
NM_000751.3(CHRND):c.243+9G>A
|
rs1015689711
|
|
|
NM_000751.3(CHRND):c.244-18A>T
|
|
|
|
NM_000751.3(CHRND):c.27G>C (p.Gly9=)
|
rs554645326
|
|
|
NM_000751.3(CHRND):c.27G>T (p.Gly9=)
|
rs554645326
|
|
|
NM_000751.3(CHRND):c.312C>G (p.Pro104=)
|
|
|
|
NM_000751.3(CHRND):c.31C>T (p.Leu11=)
|
rs1235166420
|
|
|
NM_000751.3(CHRND):c.336G>A (p.Glu112=)
|
|
|
|
NM_000751.3(CHRND):c.378C>T (p.Ser126=)
|
|
|
|
NM_000751.3(CHRND):c.42G>C (p.Leu14=)
|
rs746207666
|
|
|
NM_000751.3(CHRND):c.468C>G (p.Thr156=)
|
|
|
|
NM_000751.3(CHRND):c.509+11T>C
|
|
|
|
NM_000751.3(CHRND):c.509+18G>A
|
|
|
|
NM_000751.3(CHRND):c.510-16C>G
|
|
|
|
NM_000751.3(CHRND):c.510-17C>A
|
|
|
|
NM_000751.3(CHRND):c.513C>T (p.Ser171=)
|
rs2106208903
|
|
|
NM_000751.3(CHRND):c.52+15C>A
|
|
|
|
NM_000751.3(CHRND):c.52+18C>A
|
|
|
|
NM_000751.3(CHRND):c.52+18C>G
|
|
|
|
NM_000751.3(CHRND):c.528C>T (p.Ala176=)
|
|
|
|
NM_000751.3(CHRND):c.53-15G>A
|
|
|
|
NM_000751.3(CHRND):c.543G>T (p.Leu181=)
|
|
|
|
NM_000751.3(CHRND):c.549G>A (p.Leu183=)
|
|
|
|
NM_000751.3(CHRND):c.582C>G (p.Pro194=)
|
rs773089899
|
|
|
NM_000751.3(CHRND):c.619+10del
|
rs2106209037
|
|
|
NM_000751.3(CHRND):c.619+15C>T
|
|
|
|
NM_000751.3(CHRND):c.619+16G>A
|
|
|
|
NM_000751.3(CHRND):c.619+16G>C
|
|
|
|
NM_000751.3(CHRND):c.619+16G>T
|
rs753490642
|
|
|
NM_000751.3(CHRND):c.663C>T (p.Asn221=)
|
|
|
|
NM_000751.3(CHRND):c.720C>A (p.Leu240=)
|
rs935801687
|
|
|
NM_000751.3(CHRND):c.726C>T (p.Ile242=)
|
rs1335079963
|
|
|
NM_000751.3(CHRND):c.738C>G (p.Pro246=)
|
|
|
|
NM_000751.3(CHRND):c.820+13G>A
|
rs763880179
|
|
|
NM_000751.3(CHRND):c.820+13G>T
|
|
|
|
NM_000751.3(CHRND):c.820+17C>G
|
|
|
|
NM_000751.3(CHRND):c.820+17C>T
|
|
|
|
NM_000751.3(CHRND):c.821-19C>T
|
|
|
|
NM_000751.3(CHRND):c.821-5C>A
|
|
|
|
NM_000751.3(CHRND):c.888C>T (p.Ser296=)
|
rs2106211370
|
|
|
NM_000751.3(CHRND):c.921C>T (p.Pro307=)
|
rs1691694178
|
|
|
NM_000751.3(CHRND):c.932+17C>A
|
|
|
|
NM_000751.3(CHRND):c.933-19G>A
|
|
|
|
NM_000751.3(CHRND):c.933-6C>G
|
|
|
|
NM_000751.3(CHRND):c.933-7C>T
|
|
|
|
NM_000751.3(CHRND):c.954G>C (p.Val318=)
|
|
|
|
NM_000751.3(CHRND):c.96G>T (p.Leu32=)
|
rs1574627606
|
|
|
NM_000751.3(CHRND):c.987C>T (p.Ile329=)
|
|
|
|
NM_000751.3(CHRND):c.993C>T (p.Leu331=)
|
|
|
|
NM_001018113.3(FANCB):c.1062G>A (p.Leu354=)
|
|
|
|
NM_001018113.3(FANCB):c.1068A>G (p.Ser356=)
|
|
|
|
NM_001018113.3(FANCB):c.1080G>A (p.Thr360=)
|
|
|
|
NM_001018113.3(FANCB):c.1080G>C (p.Thr360=)
|
rs754983238
|
|
|
NM_001018113.3(FANCB):c.1104+10A>G
|
|
|
|
NM_001018113.3(FANCB):c.1104+11T>C
|
|
|
|
NM_001018113.3(FANCB):c.1104+18A>C
|
|
|
|
NM_001018113.3(FANCB):c.1104+20T>G
|
|
|
|
NM_001018113.3(FANCB):c.1104+20_1104+22del
|
|
|
|
NM_001018113.3(FANCB):c.1105-16T>A
|
|
|
|
NM_001018113.3(FANCB):c.1105-26TATT[5]
|
rs398123537
|
|
|
NM_001018113.3(FANCB):c.1105-5A>G
|
|
|
|
NM_001018113.3(FANCB):c.1105-7T>G
|
|
|
|
NM_001018113.3(FANCB):c.1105-9A>T
|
|
|
|
NM_001018113.3(FANCB):c.1110A>G (p.Glu370=)
|
|
|
|
NM_001018113.3(FANCB):c.1134C>T (p.Asp378=)
|
|
|
|
NM_001018113.3(FANCB):c.1167G>T (p.Leu389=)
|
|
|
|
NM_001018113.3(FANCB):c.1182A>G (p.Leu394=)
|
|
|
|
NM_001018113.3(FANCB):c.1191A>G (p.Gly397=)
|
rs2147424764
|
|
|
NM_001018113.3(FANCB):c.1197+10T>C
|
|
|
|
NM_001018113.3(FANCB):c.1197+11G>A
|
rs2147424729
|
|
|
NM_001018113.3(FANCB):c.1197+13_1197+15del
|
rs2147424707
|
|
|
NM_001018113.3(FANCB):c.1197+8T>C
|
|
|
|
NM_001018113.3(FANCB):c.1212T>G (p.Ser404=)
|
|
|
|
NM_001018113.3(FANCB):c.1215T>A (p.Phe405Leu)
|
|
|
|
NM_001018113.3(FANCB):c.123C>T (p.Pro41=)
|
|
|
|
NM_001018113.3(FANCB):c.1251A>G (p.Lys417=)
|
|
|
|
NM_001018113.3(FANCB):c.1257T>C (p.Ile419=)
|
rs1601989714
|
|
|
NM_001018113.3(FANCB):c.1269C>T (p.Tyr423=)
|
|
|
|
NM_001018113.3(FANCB):c.1326+13_1326+14del
|
|
|
|
NM_001018113.3(FANCB):c.1326+16T>C
|
rs747443650
|
|
|
NM_001018113.3(FANCB):c.1326+18A>G
|
|
|
|
NM_001018113.3(FANCB):c.1326+7G>C
|
|
|
|
NM_001018113.3(FANCB):c.1326+7del
|
|
|
|
NM_001018113.3(FANCB):c.1327-10T>A
|
|
|
|
NM_001018113.3(FANCB):c.1327-17T>G
|
|
|
|
NM_001018113.3(FANCB):c.1327-19_1327-16del
|
rs766440560
|
|
|
NM_001018113.3(FANCB):c.1428G>A (p.Glu476=)
|
|
|
|
NM_001018113.3(FANCB):c.1440T>C (p.Tyr480=)
|
|
|
|
NM_001018113.3(FANCB):c.1496+10T>C
|
|
|
|
NM_001018113.3(FANCB):c.1496+14A>G
|
|
|
|
NM_001018113.3(FANCB):c.1496+16C>A
|
|
|
|
NM_001018113.3(FANCB):c.1496+18dup
|
|
|
|
NM_001018113.3(FANCB):c.1496+19_1496+21del
|
|
|
|
NM_001018113.3(FANCB):c.1496+8A>T
|
|
|
|
NM_001018113.3(FANCB):c.1497-12G>T
|
|
|
|
NM_001018113.3(FANCB):c.1497-18del
|
|
|
|
NM_001018113.3(FANCB):c.1497-20A>G
|
|
|
|
NM_001018113.3(FANCB):c.1521A>G (p.Ser507=)
|
|
|
|
NM_001018113.3(FANCB):c.1521A>T (p.Ser507=)
|
|
|
|
NM_001018113.3(FANCB):c.1542T>C (p.His514=)
|
|
|
|
NM_001018113.3(FANCB):c.1549A>G (p.Arg517Gly)
|
|
|
|
NM_001018113.3(FANCB):c.1563A>G (p.Leu521=)
|
|
|
|
NM_001018113.3(FANCB):c.1566G>A (p.Lys522=)
|
rs2092371545
|
|
|
NM_001018113.3(FANCB):c.1569T>C (p.Cys523=)
|
|
|
|
NM_001018113.3(FANCB):c.1578G>T (p.Arg526Ser)
|
|
|
|
NM_001018113.3(FANCB):c.1611A>G (p.Ala537=)
|
|
|
|
NM_001018113.3(FANCB):c.1617C>T (p.Tyr539=)
|
|
|
|
NM_001018113.3(FANCB):c.1620G>A (p.Leu540=)
|
|
|
|
NM_001018113.3(FANCB):c.1626A>G (p.Pro542=)
|
rs1277532078
|
|
|
NM_001018113.3(FANCB):c.1683G>A (p.Glu561=)
|
|
|
|
NM_001018113.3(FANCB):c.1701A>G (p.Glu567=)
|
|
|
|
NM_001018113.3(FANCB):c.1707A>G (p.Pro569=)
|
rs1555904427
|
|
|
NM_001018113.3(FANCB):c.171T>C (p.Phe57=)
|
|
|
|
NM_001018113.3(FANCB):c.1725A>G (p.Val575=)
|
|
|
|
NM_001018113.3(FANCB):c.1726C>G (p.Gln576Glu)
|
|
|
|
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=)
|
rs964099207
|
|
|
NM_001018113.3(FANCB):c.177G>A (p.Gln59=)
|
rs1602006672
|
|
|
NM_001018113.3(FANCB):c.1788T>C (p.Thr596=)
|
|
|
|
NM_001018113.3(FANCB):c.1818T>C (p.Ser606=)
|
|
|
|
NM_001018113.3(FANCB):c.1872A>C (p.Leu624=)
|
|
|
|
NM_001018113.3(FANCB):c.1887T>G (p.Thr629=)
|
|
|
|
NM_001018113.3(FANCB):c.1896C>T (p.Tyr632=)
|
|
|
|
NM_001018113.3(FANCB):c.1927+13G>C
|
|
|
|
NM_001018113.3(FANCB):c.1927+16C>T
|
|
|
|
NM_001018113.3(FANCB):c.1927+8T>A
|
|
|
|
NM_001018113.3(FANCB):c.1927+9del
|
|
|
|
NM_001018113.3(FANCB):c.192T>C (p.Phe64=)
|
|
|
|
NM_001018113.3(FANCB):c.1950A>G (p.Ala650=)
|
|
|
|
NM_001018113.3(FANCB):c.1970A>G (p.Lys657Arg)
|
rs2092368529
|
|
|
NM_001018113.3(FANCB):c.1992A>T (p.Ser664=)
|
rs2147389619
|
|
|
NM_001018113.3(FANCB):c.2053A>G (p.Ile685Val)
|
|
|
|
NM_001018113.3(FANCB):c.207A>G (p.Glu69=)
|
|
|
|
NM_001018113.3(FANCB):c.2091G>A (p.Pro697=)
|
|
|
|
NM_001018113.3(FANCB):c.2100C>T (p.Phe700=)
|
|
|
|
NM_001018113.3(FANCB):c.2109A>G (p.Thr703=)
|
rs1555904303
|
|
|
NM_001018113.3(FANCB):c.2112C>T (p.Leu704=)
|
|
|
|
NM_001018113.3(FANCB):c.2136A>G (p.Pro712=)
|
|
|
|
NM_001018113.3(FANCB):c.2139C>T (p.Phe713=)
|
|
|
|
NM_001018113.3(FANCB):c.2142A>G (p.Glu714=)
|
rs2147389159
|
|
|
NM_001018113.3(FANCB):c.2165+12T>G
|
|
|
|
NM_001018113.3(FANCB):c.2165+18G>A
|
|
|
|
NM_001018113.3(FANCB):c.2165+18G>T
|
|
|
|
NM_001018113.3(FANCB):c.2166-14T>C
|
|
|
|
NM_001018113.3(FANCB):c.2166-15_2166-12del
|
|
|
|
NM_001018113.3(FANCB):c.2166-9T>C
|
rs2147387583
|
|
|
NM_001018113.3(FANCB):c.2190C>T (p.Cys730=)
|
|
|
|
NM_001018113.3(FANCB):c.2193T>G (p.Leu731=)
|
rs2147387445
|
|
|
NM_001018113.3(FANCB):c.2214C>A (p.Leu738=)
|
|
|
|
NM_001018113.3(FANCB):c.2214C>G (p.Leu738=)
|
|
|
|
NM_001018113.3(FANCB):c.2222A>T (p.Asn741Ile)
|
|
|
|
NM_001018113.3(FANCB):c.2229C>T (p.Phe743=)
|
|
|
|
NM_001018113.3(FANCB):c.2238T>C (p.Asn746=)
|
|
|
|
NM_001018113.3(FANCB):c.2241A>C (p.Leu747=)
|
rs2147387279
|
|
|
NM_001018113.3(FANCB):c.2244A>G (p.Lys748=)
|
|
|
|
NM_001018113.3(FANCB):c.2271T>C (p.Asp757=)
|
|
|
|
NM_001018113.3(FANCB):c.2276T>C (p.Met759Thr)
|
|
|
|
NM_001018113.3(FANCB):c.2280A>T (p.Ala760=)
|
|
|
|
NM_001018113.3(FANCB):c.2299C>T (p.Leu767=)
|
|
|
|
NM_001018113.3(FANCB):c.2301A>G (p.Leu767=)
|
|
|
|
NM_001018113.3(FANCB):c.2322T>G (p.Ser774=)
|
|
|
|
NM_001018113.3(FANCB):c.2328C>T (p.Ala776=)
|
|
|
|
NM_001018113.3(FANCB):c.2340T>C (p.His780=)
|
|
|
|
NM_001018113.3(FANCB):c.2359A>C (p.Arg787=)
|
|
|
|
NM_001018113.3(FANCB):c.2361G>A (p.Arg787=)
|
|
|
|
NM_001018113.3(FANCB):c.2370G>A (p.Val790=)
|
|
|
|
NM_001018113.3(FANCB):c.2373C>T (p.Ser791=)
|
rs2092363086
|
|
|
NM_001018113.3(FANCB):c.2391C>G (p.Val797=)
|
rs778731279
|
|
|
NM_001018113.3(FANCB):c.2395G>A (p.Ala799Thr)
|
|
|
|
NM_001018113.3(FANCB):c.2397G>A (p.Ala799=)
|
|
|
|
NM_001018113.3(FANCB):c.2404T>C (p.Leu802=)
|
|
|
|
NM_001018113.3(FANCB):c.2406A>G (p.Leu802=)
|
|
|
|
NM_001018113.3(FANCB):c.2415A>G (p.Arg805=)
|
|
|
|
NM_001018113.3(FANCB):c.2433C>G (p.Pro811=)
|
rs2147386620
|
|
|
NM_001018113.3(FANCB):c.2496T>A (p.Gly832=)
|
|
|
|
NM_001018113.3(FANCB):c.2520G>A (p.Leu840=)
|
|
|
|
NM_001018113.3(FANCB):c.2526A>T (p.Val842=)
|
|
|
|
NM_001018113.3(FANCB):c.2539T>C (p.Leu847=)
|
|
|
|
NM_001018113.3(FANCB):c.2556T>C (p.Ala852=)
|
|
|
|
NM_001018113.3(FANCB):c.2562G>A (p.Gln854=)
|
|
|
|
NM_001018113.3(FANCB):c.2565A>G (p.Lys855=)
|
|
|
|
NM_001018113.3(FANCB):c.2575T>C (p.Leu859=)
|
|
|
|
NM_001018113.3(FANCB):c.2577A>G (p.Leu859=)
|
|
|
|
NM_001018113.3(FANCB):c.273C>T (p.Leu91=)
|
|
|
|
NM_001018113.3(FANCB):c.291A>G (p.Glu97=)
|
|
|
|
NM_001018113.3(FANCB):c.300A>G (p.Lys100=)
|
|
|
|
NM_001018113.3(FANCB):c.30C>T (p.Asn10=)
|
|
|
|
NM_001018113.3(FANCB):c.339C>T (p.His113=)
|
|
|
|
NM_001018113.3(FANCB):c.372T>C (p.Phe124=)
|
|
|
|
NM_001018113.3(FANCB):c.376C>T (p.Leu126=)
|
rs1602006225
|
|
|
NM_001018113.3(FANCB):c.378A>G (p.Leu126=)
|
|
|
|
NM_001018113.3(FANCB):c.381C>T (p.Gly127=)
|
|
|
|
NM_001018113.3(FANCB):c.408C>T (p.Val136=)
|
|
|
|
NM_001018113.3(FANCB):c.417C>A (p.Gly139=)
|
|
|
|
NM_001018113.3(FANCB):c.417C>G (p.Gly139=)
|
|
|
|
NM_001018113.3(FANCB):c.447A>G (p.Ala149=)
|
|
|
|
NM_001018113.3(FANCB):c.447A>T (p.Ala149=)
|
|
|
|
NM_001018113.3(FANCB):c.468A>G (p.Gln156=)
|
|
|
|
NM_001018113.3(FANCB):c.480T>A (p.Val160=)
|
|
|
|
NM_001018113.3(FANCB):c.483T>C (p.Val161=)
|
|
|
|
NM_001018113.3(FANCB):c.501T>C (p.Phe167=)
|
|
|
|
NM_001018113.3(FANCB):c.560A>G (p.Lys187Arg)
|
|
|
|
NM_001018113.3(FANCB):c.591T>G (p.Thr197=)
|
|
|
|
NM_001018113.3(FANCB):c.603A>C (p.Ser201=)
|
|
|
|
NM_001018113.3(FANCB):c.615T>C (p.Tyr205=)
|
|
|
|
NM_001018113.3(FANCB):c.666A>G (p.Val222=)
|
|
|
|
NM_001018113.3(FANCB):c.681C>T (p.Tyr227=)
|
|
|
|
NM_001018113.3(FANCB):c.699C>T (p.Tyr233=)
|
|
|
|
NM_001018113.3(FANCB):c.708G>A (p.Val236=)
|
rs2147445876
|
|
|
NM_001018113.3(FANCB):c.720A>G (p.Val240=)
|
|
|
|
NM_001018113.3(FANCB):c.735T>C (p.Thr245=)
|
|
|
|
NM_001018113.3(FANCB):c.744C>A (p.Ile248=)
|
|
|
|
NM_001018113.3(FANCB):c.795G>A (p.Leu265=)
|
|
|
|
NM_001018113.3(FANCB):c.795G>T (p.Leu265=)
|
|
|
|
NM_001018113.3(FANCB):c.852T>C (p.Pro284=)
|
|
|
|
NM_001018113.3(FANCB):c.876A>G (p.Ser292=)
|
|
|
|
NM_001018113.3(FANCB):c.885A>G (p.Gly295=)
|
rs1477082234
|
|
|
NM_001018113.3(FANCB):c.906C>T (p.Ser302=)
|
|
|
|
NM_001018113.3(FANCB):c.93T>C (p.Asn31=)
|
|
|
|
NM_001018113.3(FANCB):c.951+13T>C
|
|
|
|
NM_001018113.3(FANCB):c.951+19T>C
|
|
|
|
NM_001018113.3(FANCB):c.951+7C>T
|
|
|
|
NM_001018113.3(FANCB):c.952-13C>T
|
rs1057515807
|
|
|
NM_001018113.3(FANCB):c.952-14T>C
|
|
|
|
NM_001018113.3(FANCB):c.952-16G>A
|
|
|
|
NM_001018113.3(FANCB):c.952-19A>G
|
|
|
|
NM_001018113.3(FANCB):c.970A>C (p.Lys324Gln)
|
|
|
|
NM_001018113.3(FANCB):c.987G>C (p.Leu329=)
|
|
|
|
NM_001018113.3(FANCB):c.990A>T (p.Ile330=)
|
rs2147429139
|
|
|
NM_001018115.3(FANCD2):c.1020G>A (p.Gln340=)
|
|
|
|
NM_001018115.3(FANCD2):c.1044T>C (p.Asp348=)
|
|
|
|
NM_001018115.3(FANCD2):c.1053G>A (p.Lys351=)
|
|
|
|
NM_001018115.3(FANCD2):c.1098+16C>G
|
|
|
|
NM_001018115.3(FANCD2):c.1098+16C>T
|
|
|
|
NM_001018115.3(FANCD2):c.1098+17T>A
|
|
|
|
NM_001018115.3(FANCD2):c.1098+19T>C
|
|
|
|
NM_001018115.3(FANCD2):c.1098+20_1098+23del
|
|
|
|
NM_001018115.3(FANCD2):c.1099-6T>G
|
rs759324309
|
|
|
NM_001018115.3(FANCD2):c.111T>C (p.Ile37=)
|
|
|
|
NM_001018115.3(FANCD2):c.1128A>G (p.Glu376=)
|
|
|
|
NM_001018115.3(FANCD2):c.1134+10A>C
|
|
|
|
NM_001018115.3(FANCD2):c.1135-6C>A
|
rs2087017963
|
|
|
NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=)
|
rs112887807
|
|
|
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=)
|
rs72492998
|
|
|
NM_001018115.3(FANCD2):c.1200C>T (p.Asp400=)
|
rs755295382
|
|
|
NM_001018115.3(FANCD2):c.1311G>T (p.Ser437=)
|
rs564577177
|
|
|
NM_001018115.3(FANCD2):c.1335T>C (p.Ser445=)
|
rs1575759741
|
|
|
NM_001018115.3(FANCD2):c.1413+8G>A
|
rs2087079196
|
|
|
NM_001018115.3(FANCD2):c.144T>C (p.Phe48=)
|
rs750534583
|
|
|
NM_001018115.3(FANCD2):c.1470T>C (p.Asp490=)
|
rs567183176
|
|
|
NM_001018115.3(FANCD2):c.150G>A (p.Lys50=)
|
|
|
|
NM_001018115.3(FANCD2):c.1546-6C>T
|
|
|
|
NM_001018115.3(FANCD2):c.1596C>A (p.Leu532=)
|
|
|
|
NM_001018115.3(FANCD2):c.1614A>G (p.Thr538=)
|
rs141824395
|
|
|
NM_001018115.3(FANCD2):c.1626C>T (p.Ser542=)
|
|
|
|
NM_001018115.3(FANCD2):c.1653C>T (p.Ile551=)
|
|
|
|
NM_001018115.3(FANCD2):c.1656+10A>C
|
rs2087247708
|
|
|
NM_001018115.3(FANCD2):c.1656+7G>A
|
|
|
|
NM_001018115.3(FANCD2):c.1657-12A>T
|
|
|
|
NM_001018115.3(FANCD2):c.1657-12_1657-10del
|
|
|
|
NM_001018115.3(FANCD2):c.1657-16C>G
|
rs1335826866
|
|
|
NM_001018115.3(FANCD2):c.1657-18T>G
|
|
|
|
NM_001018115.3(FANCD2):c.1659T>C (p.Asp553=)
|
|
|
|
NM_001018115.3(FANCD2):c.1668C>T (p.His556=)
|
rs2125026611
|
|
|
NM_001018115.3(FANCD2):c.1678A>C (p.Arg560=)
|
|
|
|
NM_001018115.3(FANCD2):c.1689C>G (p.Leu563=)
|
|
|
|
NM_001018115.3(FANCD2):c.1689C>T (p.Leu563=)
|
rs1281020807
|
|
|
NM_001018115.3(FANCD2):c.1692T>C (p.Ser564=)
|
|
|
|
NM_001018115.3(FANCD2):c.1734T>C (p.Ala578=)
|
|
|
|
NM_001018115.3(FANCD2):c.174T>A (p.Ile58=)
|
|
|
|
NM_001018115.3(FANCD2):c.1766+13A>G
|
|
|
|
NM_001018115.3(FANCD2):c.1766+15T>G
|
|
|
|
NM_001018115.3(FANCD2):c.1766+17T>C
|
|
|
|
NM_001018115.3(FANCD2):c.1766+19A>G
|
|
|
|
NM_001018115.3(FANCD2):c.1766+7G>T
|
|
|
|
NM_001018115.3(FANCD2):c.1767-10T>C
|
|
|
|
NM_001018115.3(FANCD2):c.1788C>G (p.Thr596=)
|
|
|
|
NM_001018115.3(FANCD2):c.1794G>A (p.Glu598=)
|
|
|
|
NM_001018115.3(FANCD2):c.1809C>T (p.Ser603=)
|
|
|
|
NM_001018115.3(FANCD2):c.180A>G (p.Lys60=)
|
|
|
|
NM_001018115.3(FANCD2):c.1815G>A (p.Glu605=)
|
|
|
|
NM_001018115.3(FANCD2):c.1821C>T (p.Cys607=)
|
rs2087590153
|
|
|
NM_001018115.3(FANCD2):c.1828-11C>T
|
|
|
|
NM_001018115.3(FANCD2):c.1828-12T>G
|
|
|
|
NM_001018115.3(FANCD2):c.1828-18T>C
|
|
|
|
NM_001018115.3(FANCD2):c.1828-20A>C
|
|
|
|
NM_001018115.3(FANCD2):c.1837T>C (p.Leu613=)
|
rs2125032558
|
|
|
NM_001018115.3(FANCD2):c.1839G>A (p.Leu613=)
|
|
|
|
NM_001018115.3(FANCD2):c.183G>T (p.Thr61=)
|
rs771445756
|
|
|
NM_001018115.3(FANCD2):c.1854T>C (p.His618=)
|
|
|
|
NM_001018115.3(FANCD2):c.1863T>C (p.Ser621=)
|
|
|
|
NM_001018115.3(FANCD2):c.1866G>A (p.Glu622=)
|
|
|
|
NM_001018115.3(FANCD2):c.186A>G (p.Gly62=)
|
|
|
|
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=)
|
rs151224882
|
|
|
NM_001018115.3(FANCD2):c.1917C>T (p.Ile639=)
|
|
|
|
NM_001018115.3(FANCD2):c.1938A>G (p.Pro646=)
|
|
|
|
NM_001018115.3(FANCD2):c.1945C>T (p.Leu649=)
|
|
|
|
NM_001018115.3(FANCD2):c.1947+14T>G
|
|
|
|
NM_001018115.3(FANCD2):c.1947+7C>T
|
|
|
|
NM_001018115.3(FANCD2):c.1947+9A>G
|
|
|
|
NM_001018115.3(FANCD2):c.1948-15G>C
|
|
|
|
NM_001018115.3(FANCD2):c.1965C>G (p.Thr655=)
|
|
|
|
NM_001018115.3(FANCD2):c.1989C>G (p.Ala663=)
|
rs2087655199
|
|
|
NM_001018115.3(FANCD2):c.19C>T (p.Leu7=)
|
|
|
|
NM_001018115.3(FANCD2):c.2001C>T (p.Asp667=)
|
|
|
|
NM_001018115.3(FANCD2):c.2021+15C>T
|
rs2125034247
|
|
|
NM_001018115.3(FANCD2):c.2022-4G>T
|
rs748941966
|
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
|
NM_001018115.3(FANCD2):c.2022-6C>T
|
rs2125034948
|
|
|
NM_001018115.3(FANCD2):c.2025C>T (p.Asp675=)
|
|
|
|
NM_001018115.3(FANCD2):c.2028T>C (p.Phe676=)
|
|
|
|
NM_001018115.3(FANCD2):c.202C>T (p.Leu68=)
|
|
|
|
NM_001018115.3(FANCD2):c.2049G>A (p.Leu683=)
|
rs768608195
|
|
|
NM_001018115.3(FANCD2):c.205+16A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2052C>T (p.Tyr684=)
|
rs776906387
|
|
|
NM_001018115.3(FANCD2):c.206-14T>C
|
|
|
|
NM_001018115.3(FANCD2):c.206-15C>T
|
|
|
|
NM_001018115.3(FANCD2):c.206-18C>G
|
|
|
|
NM_001018115.3(FANCD2):c.206-4A>G
|
|
|
|
NM_001018115.3(FANCD2):c.206-5C>T
|
|
|
|
NM_001018115.3(FANCD2):c.206-6G>A
|
rs1386251857
|
|
|
NM_001018115.3(FANCD2):c.206-9T>C
|
|
|
|
NM_001018115.3(FANCD2):c.2067C>T (p.Tyr689=)
|
rs763189891
|
|
|
NM_001018115.3(FANCD2):c.2082G>T (p.Gly694=)
|
rs1575792797
|
|
|
NM_001018115.3(FANCD2):c.2097C>A (p.Leu699=)
|
|
|
|
NM_001018115.3(FANCD2):c.2103G>T (p.Pro701=)
|
rs139033444
|
|
|
NM_001018115.3(FANCD2):c.2121C>T (p.Asp707=)
|
|
|
|
NM_001018115.3(FANCD2):c.2133T>C (p.Asp711=)
|
rs2125035366
|
|
|
NM_001018115.3(FANCD2):c.2136G>A (p.Gly712=)
|
|
|
|
NM_001018115.3(FANCD2):c.2136G>C (p.Gly712=)
|
|
|
|
NM_001018115.3(FANCD2):c.2148C>T (p.Thr716=)
|
|
|
|
NM_001018115.3(FANCD2):c.2151A>G (p.Ser717=)
|
|
|
|
NM_001018115.3(FANCD2):c.2168+9A>T
|
|
|
|
NM_001018115.3(FANCD2):c.2168+9del
|
rs1364300331
|
|
|
NM_001018115.3(FANCD2):c.2169-15A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2169-17T>A
|
|
|
|
NM_001018115.3(FANCD2):c.2169-19A>T
|
|
|
|
NM_001018115.3(FANCD2):c.2169-6_2169-4del
|
|
|
|
NM_001018115.3(FANCD2):c.2169-9C>T
|
|
|
|
NM_001018115.3(FANCD2):c.216A>G (p.Gln72=)
|
|
|
|
NM_001018115.3(FANCD2):c.2188C>T (p.Leu730=)
|
|
|
|
NM_001018115.3(FANCD2):c.2205G>T (p.Arg735=)
|
rs2125036460
|
|
|
NM_001018115.3(FANCD2):c.2214A>G (p.Arg738=)
|
rs527711543
|
|
|
NM_001018115.3(FANCD2):c.2253G>A (p.Glu751=)
|
rs2125036589
|
|
|
NM_001018115.3(FANCD2):c.2259T>C (p.Asp753=)
|
|
|
|
NM_001018115.3(FANCD2):c.2266C>T (p.Leu756=)
|
|
|
|
NM_001018115.3(FANCD2):c.2269+11_2269+12del
|
|
|
|
NM_001018115.3(FANCD2):c.2269+16A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2269+16A>T
|
|
|
|
NM_001018115.3(FANCD2):c.2269+20G>C
|
rs2087695350
|
|
|
NM_001018115.3(FANCD2):c.2269+9T>G
|
|
|
|
NM_001018115.3(FANCD2):c.2270-10T>C
|
rs2125037080
|
|
|
NM_001018115.3(FANCD2):c.2270-7C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2270-9C>G
|
|
|
|
NM_001018115.3(FANCD2):c.2311T>C (p.Leu771=)
|
rs1045809342
|
|
|
NM_001018115.3(FANCD2):c.2340A>G (p.Ser780=)
|
|
|
|
NM_001018115.3(FANCD2):c.2367T>G (p.Thr789=)
|
|
|
|
NM_001018115.3(FANCD2):c.2373C>T (p.Asn791=)
|
rs1575795387
|
|
|
NM_001018115.3(FANCD2):c.237C>G (p.Leu79=)
|
|
|
|
NM_001018115.3(FANCD2):c.2385+8G>T
|
|
|
|
NM_001018115.3(FANCD2):c.2386-11G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2386-9A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2397C>A (p.Ala799=)
|
|
|
|
NM_001018115.3(FANCD2):c.2406G>A (p.Gln802=)
|
|
|
|
NM_001018115.3(FANCD2):c.2412A>G (p.Thr804=)
|
|
|
|
NM_001018115.3(FANCD2):c.2436G>A (p.Val812=)
|
|
|
|
NM_001018115.3(FANCD2):c.2442T>C (p.Thr814=)
|
|
|
|
NM_001018115.3(FANCD2):c.2451G>A (p.Lys817=)
|
|
|
|
NM_001018115.3(FANCD2):c.2464T>C (p.Leu822=)
|
|
|
|
NM_001018115.3(FANCD2):c.2472A>C (p.Ile824=)
|
|
|
|
NM_001018115.3(FANCD2):c.2490G>A (p.Leu830=)
|
|
|
|
NM_001018115.3(FANCD2):c.2494+10G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2494+11T>A
|
|
|
|
NM_001018115.3(FANCD2):c.2494+13T>C
|
|
|
|
NM_001018115.3(FANCD2):c.2494+18T>G
|
|
|
|
NM_001018115.3(FANCD2):c.2495-13C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2495-14G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2495-16C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2495-18G>C
|
|
|
|
NM_001018115.3(FANCD2):c.2495-4T>G
|
rs1553612428
|
|
|
NM_001018115.3(FANCD2):c.2495-7G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2496C>T (p.Val832=)
|
|
|
|
NM_001018115.3(FANCD2):c.2499C>T (p.Thr833=)
|
|
|
|
NM_001018115.3(FANCD2):c.249G>C (p.Leu83=)
|
rs2086682680
|
|
|
NM_001018115.3(FANCD2):c.2502A>G (p.Pro834=)
|
|
|
|
NM_001018115.3(FANCD2):c.2508T>C (p.Tyr836=)
|
|
|
|
NM_001018115.3(FANCD2):c.2511C>A (p.Val837=)
|
|
|
|
NM_001018115.3(FANCD2):c.2511C>G (p.Val837=)
|
|
|
|
NM_001018115.3(FANCD2):c.2514T>G (p.Pro838=)
|
|
|
|
NM_001018115.3(FANCD2):c.2544A>G (p.Leu848=)
|
|
|
|
NM_001018115.3(FANCD2):c.2556T>C (p.Pro852=)
|
|
|
|
NM_001018115.3(FANCD2):c.2562T>C (p.Thr854=)
|
|
|
|
NM_001018115.3(FANCD2):c.2605+12C>A
|
|
|
|
NM_001018115.3(FANCD2):c.2605+25_2605+29del
|
rs1278623181
|
|
|
NM_001018115.3(FANCD2):c.2605+8T>C
|
|
|
|
NM_001018115.3(FANCD2):c.2605+9G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2606-12_2606-11del
|
rs754006641
|
|
|
NM_001018115.3(FANCD2):c.2606-15T>C
|
rs2125048406
|
|
|
NM_001018115.3(FANCD2):c.2606-16C>G
|
|
|
|
NM_001018115.3(FANCD2):c.2606-18C>T
|
rs1693351182
|
|
|
NM_001018115.3(FANCD2):c.2622A>G (p.Thr874=)
|
|
|
|
NM_001018115.3(FANCD2):c.2625T>C (p.Asp875=)
|
|
|
|
NM_001018115.3(FANCD2):c.2640C>G (p.Ser880=)
|
|
|
|
NM_001018115.3(FANCD2):c.2652A>G (p.Thr884=)
|
|
|
|
NM_001018115.3(FANCD2):c.2667A>G (p.Lys889=)
|
|
|
|
NM_001018115.3(FANCD2):c.2691A>C (p.Pro897=)
|
|
|
|
NM_001018115.3(FANCD2):c.2691A>G (p.Pro897=)
|
|
|
|
NM_001018115.3(FANCD2):c.2697T>C (p.His899=)
|
|
|
|
NM_001018115.3(FANCD2):c.2715+10T>G
|
|
|
|
NM_001018115.3(FANCD2):c.2715+11G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2715+11G>T
|
|
|
|
NM_001018115.3(FANCD2):c.2715+16del
|
|
|
|
NM_001018115.3(FANCD2):c.2715+17T>G
|
|
|
|
NM_001018115.3(FANCD2):c.2716-12A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2716-13G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2716-9T>A
|
|
|
|
NM_001018115.3(FANCD2):c.2716-9T>G
|
rs760325562
|
|
|
NM_001018115.3(FANCD2):c.2724A>G (p.Thr908=)
|
|
|
|
NM_001018115.3(FANCD2):c.2727G>A (p.Gly909=)
|
|
|
|
NM_001018115.3(FANCD2):c.273+15C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2739G>A (p.Lys913=)
|
rs2125050010
|
|
|
NM_001018115.3(FANCD2):c.274-11del
|
|
|
|
NM_001018115.3(FANCD2):c.274-6C>A
|
|
|
|
NM_001018115.3(FANCD2):c.274-9C>G
|
|
|
|
NM_001018115.3(FANCD2):c.274-9C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2742A>G (p.Thr914=)
|
|
|
|
NM_001018115.3(FANCD2):c.2745A>G (p.Ser915=)
|
|
|
|
NM_001018115.3(FANCD2):c.2769T>C (p.Ala923=)
|
|
|
|
NM_001018115.3(FANCD2):c.2796C>T (p.Val932=)
|
|
|
|
NM_001018115.3(FANCD2):c.2799C>T (p.Phe933=)
|
|
|
|
NM_001018115.3(FANCD2):c.2811T>C (p.His937=)
|
|
|
|
NM_001018115.3(FANCD2):c.2814T>C (p.Cys938=)
|
rs2125050162
|
|
|
NM_001018115.3(FANCD2):c.2826G>C (p.Thr942=)
|
rs200118565
|
|
|
NM_001018115.3(FANCD2):c.2859+11G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2859+11G>T
|
|
|
|
NM_001018115.3(FANCD2):c.2859+12G>A
|
rs2125050262
|
|
|
NM_001018115.3(FANCD2):c.2859+14T>G
|
|
|
|
NM_001018115.3(FANCD2):c.2859+19T>C
|
|
|
|
NM_001018115.3(FANCD2):c.2860-10C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2860-11C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2860-4A>C
|
rs2125054543
|
|
|
NM_001018115.3(FANCD2):c.2860-5G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2860-8T>C
|
|
|
|
NM_001018115.3(FANCD2):c.2886C>A (p.Pro962=)
|
|
|
|
NM_001018115.3(FANCD2):c.2886C>G (p.Pro962=)
|
|
|
|
NM_001018115.3(FANCD2):c.2886C>T (p.Pro962=)
|
|
|
|
NM_001018115.3(FANCD2):c.2889T>C (p.Pro963=)
|
|
|
|
NM_001018115.3(FANCD2):c.288T>C (p.Phe96=)
|
|
|
|
NM_001018115.3(FANCD2):c.2907G>A (p.Leu969=)
|
|
|
|
NM_001018115.3(FANCD2):c.2916C>T (p.Leu972=)
|
|
|
|
NM_001018115.3(FANCD2):c.2931G>A (p.Glu977=)
|
|
|
|
NM_001018115.3(FANCD2):c.2943A>T (p.Thr981=)
|
|
|
|
NM_001018115.3(FANCD2):c.294T>C (p.Ser98=)
|
|
|
|
NM_001018115.3(FANCD2):c.2955C>T (p.Ala985=)
|
|
|
|
NM_001018115.3(FANCD2):c.2958G>A (p.Arg986=)
|
|
|
|
NM_001018115.3(FANCD2):c.2967C>G (p.Pro989=)
|
rs2125054748
|
|
|
NM_001018115.3(FANCD2):c.2967C>T (p.Pro989=)
|
|
|
|
NM_001018115.3(FANCD2):c.2973C>G (p.Leu991=)
|
|
|
|
NM_001018115.3(FANCD2):c.2976+11G>A
|
|
|
|
NM_001018115.3(FANCD2):c.2976+12C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2976+12del
|
|
|
|
NM_001018115.3(FANCD2):c.2976+15A>T
|
rs2125054794
|
|
|
NM_001018115.3(FANCD2):c.2976+19A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2976+19A>T
|
|
|
|
NM_001018115.3(FANCD2):c.2976+20T>C
|
|
|
|
NM_001018115.3(FANCD2):c.2976+23_2976+35del
|
|
|
|
NM_001018115.3(FANCD2):c.2976+7G>T
|
|
|
|
NM_001018115.3(FANCD2):c.2977-13G>T
|
|
|
|
NM_001018115.3(FANCD2):c.2977-17C>G
|
|
|
|
NM_001018115.3(FANCD2):c.2977-17C>T
|
|
|
|
NM_001018115.3(FANCD2):c.2977-18A>C
|
|
|
|
NM_001018115.3(FANCD2):c.2977-4A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2977-7A>G
|
|
|
|
NM_001018115.3(FANCD2):c.2979C>T (p.Asn993=)
|
|
|
|
NM_001018115.3(FANCD2):c.298C>T (p.Leu100=)
|
|
|
|
NM_001018115.3(FANCD2):c.300G>A (p.Leu100=)
|
rs2124975151
|
|
|
NM_001018115.3(FANCD2):c.3012C>T (p.Leu1004=)
|
|
|
|
NM_001018115.3(FANCD2):c.3015A>G (p.Gln1005=)
|
|
|
|
NM_001018115.3(FANCD2):c.3021A>G (p.Arg1007=)
|
|
|
|
NM_001018115.3(FANCD2):c.3024T>C (p.Ser1008=)
|
|
|
|
NM_001018115.3(FANCD2):c.3039T>A (p.Val1013=)
|
|
|
|
NM_001018115.3(FANCD2):c.3048T>G (p.Val1016=)
|
|
|
|
NM_001018115.3(FANCD2):c.3105+12A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3106-13T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3106-14A>C
|
|
|
|
NM_001018115.3(FANCD2):c.3106-14A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3106-15C>A
|
|
|
|
NM_001018115.3(FANCD2):c.3106-15C>G
|
|
|
|
NM_001018115.3(FANCD2):c.3106-15C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3106-19A>T
|
|
|
|
NM_001018115.3(FANCD2):c.3108T>C (p.Cys1036=)
|
|
|
|
NM_001018115.3(FANCD2):c.3195G>A (p.Leu1065=)
|
|
|
|
NM_001018115.3(FANCD2):c.3224+10T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3224+11G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3224+7A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3224+8T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3225-10A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3225-14C>G
|
|
|
|
NM_001018115.3(FANCD2):c.3225-16A>T
|
|
|
|
NM_001018115.3(FANCD2):c.3225-17T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3225-4T>G
|
|
|
|
NM_001018115.3(FANCD2):c.3225-6_3225-3del
|
|
|
|
NM_001018115.3(FANCD2):c.3225-9C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3240A>G (p.Gln1080=)
|
rs1694161718
|
|
|
NM_001018115.3(FANCD2):c.3252G>A (p.Gln1084=)
|
|
|
|
NM_001018115.3(FANCD2):c.3279C>A (p.Val1093=)
|
|
|
|
NM_001018115.3(FANCD2):c.3291A>C (p.Arg1097=)
|
|
|
|
NM_001018115.3(FANCD2):c.3292C>T (p.Leu1098=)
|
|
|
|
NM_001018115.3(FANCD2):c.3335+11A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3335+16A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3335+19G>C
|
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|
|
NM_001018115.3(FANCD2):c.3335+8A>G
|
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|
|
NM_001018115.3(FANCD2):c.3336-10C>G
|
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|
|
NM_001018115.3(FANCD2):c.3336-4dup
|
|
|
|
NM_001018115.3(FANCD2):c.3336-8C>T
|
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|
|
NM_001018115.3(FANCD2):c.3342C>T (p.Ser1114=)
|
|
|
|
NM_001018115.3(FANCD2):c.3351C>T (p.Tyr1117=)
|
rs566518051
|
|
|
NM_001018115.3(FANCD2):c.3354G>A (p.Leu1118=)
|
|
|
|
NM_001018115.3(FANCD2):c.3369A>G (p.Gln1123=)
|
|
|
|
NM_001018115.3(FANCD2):c.336C>T (p.Asn112=)
|
|
|
|
NM_001018115.3(FANCD2):c.3381T>C (p.Ser1127=)
|
|
|
|
NM_001018115.3(FANCD2):c.3393T>C (p.Ala1131=)
|
|
|
|
NM_001018115.3(FANCD2):c.3405C>T (p.Ile1135=)
|
|
|
|
NM_001018115.3(FANCD2):c.3466+9C>T
|
rs33998487
|
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|
NM_001018115.3(FANCD2):c.3467-11T>G
|
|
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|
NM_001018115.3(FANCD2):c.3467-12C>G
|
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|
NM_001018115.3(FANCD2):c.3467-12_3467-10del
|
|
|
|
NM_001018115.3(FANCD2):c.3468T>G (p.Ala1156=)
|
rs2125076511
|
|
|
NM_001018115.3(FANCD2):c.3474T>C (p.Leu1158=)
|
|
|
|
NM_001018115.3(FANCD2):c.3489C>T (p.Leu1163=)
|
|
|
|
NM_001018115.3(FANCD2):c.348T>C (p.Ser116=)
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|
|
NM_001018115.3(FANCD2):c.348T>G (p.Ser116=)
|
|
|
|
NM_001018115.3(FANCD2):c.3528C>T (p.Asn1176=)
|
|
|
|
NM_001018115.3(FANCD2):c.3531C>A (p.Ile1177=)
|
|
|
|
NM_001018115.3(FANCD2):c.3531C>T (p.Ile1177=)
|
|
|
|
NM_001018115.3(FANCD2):c.3546C>T (p.Leu1182=)
|
rs2125076733
|
|
|
NM_001018115.3(FANCD2):c.3552T>A (p.Ala1184=)
|
|
|
|
NM_001018115.3(FANCD2):c.3552T>C (p.Ala1184=)
|
|
|
|
NM_001018115.3(FANCD2):c.3560+11T>C
|
|
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|
NM_001018115.3(FANCD2):c.3560+13G>A
|
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|
NM_001018115.3(FANCD2):c.3561-13A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3561-9T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3564C>T (p.Ile1188=)
|
|
|
|
NM_001018115.3(FANCD2):c.3591G>A (p.Leu1197=)
|
|
|
|
NM_001018115.3(FANCD2):c.3594G>A (p.Lys1198=)
|
rs1463556947
|
|
|
NM_001018115.3(FANCD2):c.3615T>G (p.Gly1205=)
|
|
|
|
NM_001018115.3(FANCD2):c.3618T>C (p.Val1206=)
|
|
|
|
NM_001018115.3(FANCD2):c.3645T>G (p.Pro1215=)
|
|
|
|
NM_001018115.3(FANCD2):c.3660C>G (p.Ser1220=)
|
rs1559404961
|
|
|
NM_001018115.3(FANCD2):c.3683+12C>A
|
|
|
|
NM_001018115.3(FANCD2):c.3683+17C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3683+18T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3684-10C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3684-12C>G
|
|
|
|
NM_001018115.3(FANCD2):c.3684-14T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3684-18G>C
|
|
|
|
NM_001018115.3(FANCD2):c.3684-5T>C
|
rs1262479173
|
|
|
NM_001018115.3(FANCD2):c.3684-9G>T
|
|
|
|
NM_001018115.3(FANCD2):c.3723A>G (p.Glu1241=)
|
|
|
|
NM_001018115.3(FANCD2):c.3738G>A (p.Val1246=)
|
|
|
|
NM_001018115.3(FANCD2):c.3768C>T (p.Asp1256=)
|
|
|
|
NM_001018115.3(FANCD2):c.3771G>A (p.Ser1257=)
|
|
|
|
NM_001018115.3(FANCD2):c.3771G>T (p.Ser1257=)
|
|
|
|
NM_001018115.3(FANCD2):c.3777+16G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3777+17T>A
|
|
|
|
NM_001018115.3(FANCD2):c.3777+8A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3778-16T>A
|
rs767539823
|
|
|
NM_001018115.3(FANCD2):c.3778-17del
|
|
|
|
NM_001018115.3(FANCD2):c.3778-19A>C
|
|
|
|
NM_001018115.3(FANCD2):c.3778-19A>G
|
|
|
|
NM_001018115.3(FANCD2):c.378-5T>C
|
|
|
|
NM_001018115.3(FANCD2):c.378-9T>A
|
|
|
|
NM_001018115.3(FANCD2):c.3792A>G (p.Lys1264=)
|
|
|
|
NM_001018115.3(FANCD2):c.3798C>G (p.Leu1266=)
|
|
|
|
NM_001018115.3(FANCD2):c.3807C>T (p.Asn1269=)
|
|
|
|
NM_001018115.3(FANCD2):c.3831C>T (p.Ile1277=)
|
|
|
|
NM_001018115.3(FANCD2):c.3849+12G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3849+16G>A
|
rs767163581
|
|
|
NM_001018115.3(FANCD2):c.3850-10A>C
|
|
|
|
NM_001018115.3(FANCD2):c.3850-10A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3850-15C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3850-6C>A
|
|
|
|
NM_001018115.3(FANCD2):c.3879A>T (p.Val1293=)
|
rs2125088663
|
|
|
NM_001018115.3(FANCD2):c.3883T>C (p.Leu1295=)
|
|
|
|
NM_001018115.3(FANCD2):c.3888+16G>C
|
|
|
|
NM_001018115.3(FANCD2):c.3888+18C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3888+7G>C
|
rs1482801348
|
|
|
NM_001018115.3(FANCD2):c.3888+7G>T
|
|
|
|
NM_001018115.3(FANCD2):c.3889-16T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3889-20A>T
|
rs2125090552
|
|
|
NM_001018115.3(FANCD2):c.3889-20_3889-19del
|
|
|
|
NM_001018115.3(FANCD2):c.3889-8T>C
|
|
|
|
NM_001018115.3(FANCD2):c.3891T>C (p.Tyr1297=)
|
|
|
|
NM_001018115.3(FANCD2):c.3894G>A (p.Gly1298=)
|
|
|
|
NM_001018115.3(FANCD2):c.3900C>A (p.Leu1300=)
|
|
|
|
NM_001018115.3(FANCD2):c.3924A>G (p.Gln1308=)
|
|
|
|
NM_001018115.3(FANCD2):c.3963+10A>G
|
|
|
|
NM_001018115.3(FANCD2):c.3963+14G>A
|
|
|
|
NM_001018115.3(FANCD2):c.3963+15C>T
|
|
|
|
NM_001018115.3(FANCD2):c.3963+16A>T
|
|
|
|
NM_001018115.3(FANCD2):c.3963+19G>A
|
rs2125090870
|
|
|
NM_001018115.3(FANCD2):c.3972T>C (p.Val1324=)
|
|
|
|
NM_001018115.3(FANCD2):c.3981A>G (p.Leu1327=)
|
|
|
|
NM_001018115.3(FANCD2):c.3999G>A (p.Leu1333=)
|
rs1694883609
|
|
|
NM_001018115.3(FANCD2):c.4011G>A (p.Leu1337=)
|
|
|
|
NM_001018115.3(FANCD2):c.4021C>T (p.Leu1341=)
|
|
|
|
NM_001018115.3(FANCD2):c.4038+10_4038+11dup
|
|
|
|
NM_001018115.3(FANCD2):c.4038+11G>C
|
|
|
|
NM_001018115.3(FANCD2):c.4038+12A>G
|
|
|
|
NM_001018115.3(FANCD2):c.4038+20C>T
|
|
|
|
NM_001018115.3(FANCD2):c.4039-12A>G
|
|
|
|
NM_001018115.3(FANCD2):c.4059C>T (p.Leu1353=)
|
|
|
|
NM_001018115.3(FANCD2):c.405C>T (p.Leu135=)
|
|
|
|
NM_001018115.3(FANCD2):c.4062C>G (p.Thr1354=)
|
|
|
|
NM_001018115.3(FANCD2):c.4128T>C (p.Thr1376=)
|
|
|
|
NM_001018115.3(FANCD2):c.412C>T (p.Leu138=)
|
|
|
|
NM_001018115.3(FANCD2):c.4131C>T (p.Leu1377=)
|
rs2125095502
|
|
|
NM_001018115.3(FANCD2):c.4137T>C (p.Asn1379=)
|
rs752376206
|
|
|
NM_001018115.3(FANCD2):c.4161C>A (p.Gly1387=)
|
|
|
|
NM_001018115.3(FANCD2):c.4167A>G (p.Leu1389=)
|
rs2125095618
|
|
|
NM_001018115.3(FANCD2):c.4176G>A (p.Arg1392=)
|
|
|
|
NM_001018115.3(FANCD2):c.4185+10G>A
|
|
|
|
NM_001018115.3(FANCD2):c.4185+12A>T
|
|
|
|
NM_001018115.3(FANCD2):c.4186-10T>G
|
|
|
|
NM_001018115.3(FANCD2):c.4186-11T>C
|
|
|
|
NM_001018115.3(FANCD2):c.4186-12A>G
|
|
|
|
NM_001018115.3(FANCD2):c.4186-14C>T
|
rs1379128834
|
|
|
NM_001018115.3(FANCD2):c.4186-16G>A
|
|
|
|
NM_001018115.3(FANCD2):c.4194G>A (p.Glu1398=)
|
|
|
|
NM_001018115.3(FANCD2):c.4233G>A (p.Glu1411=)
|
|
|
|
NM_001018115.3(FANCD2):c.4239G>A (p.Glu1413=)
|
|
|
|
NM_001018115.3(FANCD2):c.4245C>T (p.Asp1415=)
|
|
|
|
NM_001018115.3(FANCD2):c.4254C>G (p.Ser1418=)
|
|
|
|
NM_001018115.3(FANCD2):c.4257G>A (p.Gln1419=)
|
|
|
|
NM_001018115.3(FANCD2):c.426T>A (p.Ile142=)
|
|
|
|
NM_001018115.3(FANCD2):c.4281+111A>G
|
|
|
|
NM_001018115.3(FANCD2):c.4281+132A>G
|
|
|
|
NM_001018115.3(FANCD2):c.4281+132A>T
|
|
|
|
NM_001018115.3(FANCD2):c.4281+18A>G
|
rs753560188
|
|
|
NM_001018115.3(FANCD2):c.4281+58C>T
|
|
|
|
NM_001018115.3(FANCD2):c.4281+72C>T
|
|
|
|
NM_001018115.3(FANCD2):c.4281+90T>C
|
|
|
|
NM_001018115.3(FANCD2):c.4281+96T>C
|
|
|
|
NM_001018115.3(FANCD2):c.4281+9A>G
|
|
|
|
NM_001018115.3(FANCD2):c.438+7C>A
|
|
|
|
NM_001018115.3(FANCD2):c.438+8dup
|
rs2124976192
|
|
|
NM_001018115.3(FANCD2):c.438+9G>A
|
|
|
|
NM_001018115.3(FANCD2):c.438+9_438+10del
|
|
|
|
NM_001018115.3(FANCD2):c.439-14G>T
|
rs778758088
|
|
|
NM_001018115.3(FANCD2):c.439-16A>C
|
|
|
|
NM_001018115.3(FANCD2):c.439-17T>G
|
|
|
|
NM_001018115.3(FANCD2):c.439-18C>G
|
|
|
|
NM_001018115.3(FANCD2):c.444C>G (p.Ala148=)
|
rs2124978509
|
|
|
NM_001018115.3(FANCD2):c.456C>T (p.Thr152=)
|
|
|
|
NM_001018115.3(FANCD2):c.45C>T (p.Ser15=)
|
|
|
|
NM_001018115.3(FANCD2):c.477A>G (p.Glu159=)
|
|
|
|
NM_001018115.3(FANCD2):c.491+10G>C
|
rs17032279
|
|
|
NM_001018115.3(FANCD2):c.491+11T>C
|
|
|
|
NM_001018115.3(FANCD2):c.491+19G>A
|
|
|
|
NM_001018115.3(FANCD2):c.491+19G>C
|
|
|
|
NM_001018115.3(FANCD2):c.491+9C>T
|
rs370232992
|
|
|
NM_001018115.3(FANCD2):c.492-13C>T
|
|
|
|
NM_001018115.3(FANCD2):c.492-7A>G
|
|
|
|
NM_001018115.3(FANCD2):c.492-8C>T
|
|
|
|
NM_001018115.3(FANCD2):c.498C>T (p.Asn166=)
|
|
|
|
NM_001018115.3(FANCD2):c.510C>T (p.Ile170=)
|
|
|
|
NM_001018115.3(FANCD2):c.519T>C (p.Pro173=)
|
|
|
|
NM_001018115.3(FANCD2):c.531C>G (p.Val177=)
|
rs747006885
|
|
|
NM_001018115.3(FANCD2):c.537A>G (p.Gln179=)
|
|
|
|
NM_001018115.3(FANCD2):c.561G>A (p.Val187=)
|
|
|
|
NM_001018115.3(FANCD2):c.570+11G>A
|
|
|
|
NM_001018115.3(FANCD2):c.570+15T>C
|
|
|
|
NM_001018115.3(FANCD2):c.570+15T>G
|
|
|
|
NM_001018115.3(FANCD2):c.570+20C>G
|
|
|
|
NM_001018115.3(FANCD2):c.570+9A>G
|
|
|
|
NM_001018115.3(FANCD2):c.571-15T>A
|
|
|
|
NM_001018115.3(FANCD2):c.571-15T>C
|
|
|
|
NM_001018115.3(FANCD2):c.571-20A>C
|
|
|
|
NM_001018115.3(FANCD2):c.571-4G>A
|
|
|
|
NM_001018115.3(FANCD2):c.571-4G>T
|
|
|
|
NM_001018115.3(FANCD2):c.571-9C>T
|
|
|
|
NM_001018115.3(FANCD2):c.595C>T (p.Leu199=)
|
rs756336462
|
|
|
NM_001018115.3(FANCD2):c.600C>T (p.Ile200=)
|
|
|
|
NM_001018115.3(FANCD2):c.60C>T (p.Ala20=)
|
|
|
|
NM_001018115.3(FANCD2):c.618C>T (p.Asn206=)
|
|
|
|
NM_001018115.3(FANCD2):c.633C>T (p.Ile211=)
|
|
|
|
NM_001018115.3(FANCD2):c.64+10T>G
|
|
|
|
NM_001018115.3(FANCD2):c.64+7A>G
|
|
|
|
NM_001018115.3(FANCD2):c.64+8T>C
|
|
|
|
NM_001018115.3(FANCD2):c.64+8_64+11del
|
|
|
|
NM_001018115.3(FANCD2):c.645A>G (p.Leu215=)
|
|
|
|
NM_001018115.3(FANCD2):c.65-17A>T
|
|
|
|
NM_001018115.3(FANCD2):c.65-20G>A
|
|
|
|
NM_001018115.3(FANCD2):c.65-8A>G
|
|
|
|
NM_001018115.3(FANCD2):c.654C>A (p.Ile218=)
|
|
|
|
NM_001018115.3(FANCD2):c.666C>T (p.Ser222=)
|
|
|
|
NM_001018115.3(FANCD2):c.678T>C (p.Asp226=)
|
|
|
|
NM_001018115.3(FANCD2):c.687A>G (p.Lys229=)
|
|
|
|
NM_001018115.3(FANCD2):c.695+11C>A
|
|
|
|
NM_001018115.3(FANCD2):c.695+12C>G
|
|
|
|
NM_001018115.3(FANCD2):c.695+12C>T
|
|
|
|
NM_001018115.3(FANCD2):c.695+8_695+9dup
|
|
|
|
NM_001018115.3(FANCD2):c.696-7T>C
|
|
|
|
NM_001018115.3(FANCD2):c.696-9C>T
|
|
|
|
NM_001018115.3(FANCD2):c.700C>T (p.Leu234=)
|
|
|
|
NM_001018115.3(FANCD2):c.703C>T (p.Leu235=)
|
|
|
|
NM_001018115.3(FANCD2):c.714T>C (p.Asn238=)
|
|
|
|
NM_001018115.3(FANCD2):c.723C>T (p.Leu241=)
|
rs1158546653
|
|
|
NM_001018115.3(FANCD2):c.736C>T (p.Leu246=)
|
|
|
|
NM_001018115.3(FANCD2):c.777A>C (p.Leu259=)
|
|
|
|
NM_001018115.3(FANCD2):c.777A>G (p.Leu259=)
|
|
|
|
NM_001018115.3(FANCD2):c.783+13C>T
|
|
|
|
NM_001018115.3(FANCD2):c.783+16C>G
|
|
|
|
NM_001018115.3(FANCD2):c.783+16C>T
|
|
|
|
NM_001018115.3(FANCD2):c.783+7A>G
|
|
|
|
NM_001018115.3(FANCD2):c.784-12T>C
|
|
|
|
NM_001018115.3(FANCD2):c.798G>A (p.Val266=)
|
|
|
|
NM_001018115.3(FANCD2):c.816T>A (p.Ser272=)
|
|
|
|
NM_001018115.3(FANCD2):c.81A>G (p.Pro27=)
|
|
|
|
NM_001018115.3(FANCD2):c.823T>C (p.Leu275=)
|
|
|
|
NM_001018115.3(FANCD2):c.831T>C (p.Asp277=)
|
|
|
|
NM_001018115.3(FANCD2):c.846A>C (p.Ile282=)
|
|
|
|
NM_001018115.3(FANCD2):c.855T>C (p.Ile285=)
|
|
|
|
NM_001018115.3(FANCD2):c.888+10T>C
|
|
|
|
NM_001018115.3(FANCD2):c.888+12T>C
|
|
|
|
NM_001018115.3(FANCD2):c.888+13A>G
|
|
|
|
NM_001018115.3(FANCD2):c.888+16C>T
|
|
|
|
NM_001018115.3(FANCD2):c.888+20C>G
|
|
|
|
NM_001018115.3(FANCD2):c.888+9T>G
|
rs777620616
|
|
|
NM_001018115.3(FANCD2):c.889-20C>T
|
|
|
|
NM_001018115.3(FANCD2):c.889-7T>C
|
rs2086903764
|
|
|
NM_001018115.3(FANCD2):c.897T>C (p.Ser299=)
|
rs2124992189
|
|
|
NM_001018115.3(FANCD2):c.906G>A (p.Arg302=)
|
|
|
|
NM_001018115.3(FANCD2):c.927T>C (p.His309=)
|
|
|
|
NM_001018115.3(FANCD2):c.967T>C (p.Leu323=)
|
|
|
|
NM_001018115.3(FANCD2):c.969G>A (p.Leu323=)
|
|
|
|
NM_001018115.3(FANCD2):c.984A>G (p.Arg328=)
|
|
|
|
NM_001018115.3(FANCD2):c.989+11C>T
|
|
|
|
NM_001018115.3(FANCD2):c.990-10C>A
|
|
|
|
NM_001018115.3(FANCD2):c.990-11G>T
|
|
|
|
NM_001018115.3(FANCD2):c.990-13C>T
|
|
|
|
NM_001018115.3(FANCD2):c.990-15C>T
|
|
|
|
NM_001018115.3(FANCD2):c.990-5T>C
|
|
|
|
NM_001018115.3(FANCD2):c.996A>C (p.Ser332=)
|
|
|
|
NM_001113378.2(FANCI):c.1008G>A (p.Lys336=)
|
|
|
|
NM_001113378.2(FANCI):c.1011C>T (p.Ser337=)
|
|
|
|
NM_001113378.2(FANCI):c.1044A>G (p.Lys348=)
|
rs2151452858
|
|
|
NM_001113378.2(FANCI):c.1059A>C (p.Leu353=)
|
|
|
|
NM_001113378.2(FANCI):c.1074T>C (p.Ser358=)
|
|
|
|
NM_001113378.2(FANCI):c.1074T>G (p.Ser358=)
|
|
|
|
NM_001113378.2(FANCI):c.1077T>C (p.Tyr359=)
|
|
|
|
NM_001113378.2(FANCI):c.1101A>G (p.Val367=)
|
|
|
|
NM_001113378.2(FANCI):c.1107G>A (p.Lys369=)
|
|
|
|
NM_001113378.2(FANCI):c.1110T>C (p.Asn370=)
|
|
|
|
NM_001113378.2(FANCI):c.1112+13_1112+14insAGATATGAA
|
|
|
|
NM_001113378.2(FANCI):c.1112+14C>G
|
|
|
|
NM_001113378.2(FANCI):c.1112+16A>G
|
|
|
|
NM_001113378.2(FANCI):c.1112+7del
|
|
|
|
NM_001113378.2(FANCI):c.1113-13T>C
|
|
|
|
NM_001113378.2(FANCI):c.1113-20T>C
|
|
|
|
NM_001113378.2(FANCI):c.1119T>C (p.His373=)
|
|
|
|
NM_001113378.2(FANCI):c.1134T>C (p.Val378=)
|
rs1201574474
|
|
|
NM_001113378.2(FANCI):c.1140G>A (p.Gln380=)
|
rs1056588286
|
|
|
NM_001113378.2(FANCI):c.1149A>G (p.Val383=)
|
|
|
|
NM_001113378.2(FANCI):c.114G>A (p.Val38=)
|
rs769209297
|
|
|
NM_001113378.2(FANCI):c.1158T>G (p.Gly386=)
|
rs2151486340
|
|
|
NM_001113378.2(FANCI):c.1161C>T (p.Phe387=)
|
rs2151486354
|
|
|
NM_001113378.2(FANCI):c.1182G>A (p.Gly394=)
|
|
|
|
NM_001113378.2(FANCI):c.1185A>G (p.Pro395=)
|
|
|
|
NM_001113378.2(FANCI):c.1194T>C (p.Val398=)
|
|
|
|
NM_001113378.2(FANCI):c.1203A>T (p.Gly401=)
|
|
|
|
NM_001113378.2(FANCI):c.1218C>T (p.Thr406=)
|
|
|
|
NM_001113378.2(FANCI):c.123A>G (p.Lys41=)
|
|
|
|
NM_001113378.2(FANCI):c.1251T>C (p.His417=)
|
rs2151487041
|
|
|
NM_001113378.2(FANCI):c.1254A>C (p.Ala418=)
|
|
|
|
NM_001113378.2(FANCI):c.1254A>G (p.Ala418=)
|
|
|
|
NM_001113378.2(FANCI):c.1254A>T (p.Ala418=)
|
rs772465377
|
|
|
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=)
|
rs376956791
|
|
|
NM_001113378.2(FANCI):c.1266A>G (p.Gly422=)
|
|
|
|
NM_001113378.2(FANCI):c.126T>C (p.Val42=)
|
|
|
|
NM_001113378.2(FANCI):c.1272T>C (p.Asn424=)
|
|
|
|
NM_001113378.2(FANCI):c.1275C>T (p.Ile425=)
|
|
|
|
NM_001113378.2(FANCI):c.1278G>C (p.Leu426=)
|
|
|
|
NM_001113378.2(FANCI):c.1278G>T (p.Leu426=)
|
rs1060504377
|
|
|
NM_001113378.2(FANCI):c.1293+11A>G
|
|
|
|
NM_001113378.2(FANCI):c.1293+7C>T
|
|
|
|
NM_001113378.2(FANCI):c.1293+8A>G
|
|
|
|
NM_001113378.2(FANCI):c.1293+9C>T
|
|
|
|
NM_001113378.2(FANCI):c.1294-11G>A
|
|
|
|
NM_001113378.2(FANCI):c.1294-11G>C
|
rs770915999
|
|
|
NM_001113378.2(FANCI):c.1294-16A>T
|
|
|
|
NM_001113378.2(FANCI):c.1294-17T>C
|
|
|
|
NM_001113378.2(FANCI):c.1294-20A>T
|
|
|
|
NM_001113378.2(FANCI):c.1294-8del
|
|
|
|
NM_001113378.2(FANCI):c.1294-9_1294-8insA
|
rs1555445524
|
|
|
NM_001113378.2(FANCI):c.1329G>A (p.Gln443=)
|
|
|
|
NM_001113378.2(FANCI):c.1350C>G (p.Thr450=)
|
|
|
|
NM_001113378.2(FANCI):c.1365C>T (p.Pro455=)
|
rs2053499669
|
|
|
NM_001113378.2(FANCI):c.1381+12T>C
|
|
|
|
NM_001113378.2(FANCI):c.1381+12T>G
|
|
|
|
NM_001113378.2(FANCI):c.1381+21_1381+24del
|
|
|
|
NM_001113378.2(FANCI):c.1381+8A>C
|
|
|
|
NM_001113378.2(FANCI):c.1381+8A>G
|
|
|
|
NM_001113378.2(FANCI):c.1382-11C>G
|
|
|
|
NM_001113378.2(FANCI):c.1382-11_1382-10del
|
rs753044978
|
|
|
NM_001113378.2(FANCI):c.1382-18A>G
|
|
|
|
NM_001113378.2(FANCI):c.1382-18A>T
|
rs763617822
|
|
|
NM_001113378.2(FANCI):c.1382-19T>C
|
|
|
|
NM_001113378.2(FANCI):c.1384C>T (p.Leu462=)
|
rs1369888767
|
|
|
NM_001113378.2(FANCI):c.1410A>T (p.Ala470=)
|
|
|
|
NM_001113378.2(FANCI):c.1425A>G (p.Gln475=)
|
|
|
|
NM_001113378.2(FANCI):c.1428T>C (p.Ser476=)
|
|
|
|
NM_001113378.2(FANCI):c.1452T>C (p.Ala484=)
|
|
|
|
NM_001113378.2(FANCI):c.1467C>A (p.Ser489=)
|
rs267604369
|
|
|
NM_001113378.2(FANCI):c.1471C>T (p.Leu491=)
|
|
|
|
NM_001113378.2(FANCI):c.1488A>G (p.Val496=)
|
|
|
|
NM_001113378.2(FANCI):c.1494G>A (p.Arg498=)
|
|
|
|
NM_001113378.2(FANCI):c.1506A>C (p.Ala502=)
|
|
|
|
NM_001113378.2(FANCI):c.1512+12G>A
|
|
|
|
NM_001113378.2(FANCI):c.1512+12G>C
|
|
|
|
NM_001113378.2(FANCI):c.1512+16C>G
|
|
|
|
NM_001113378.2(FANCI):c.1512+20A>C
|
|
|
|
NM_001113378.2(FANCI):c.1513-17C>T
|
|
|
|
NM_001113378.2(FANCI):c.1513-9C>A
|
|
|
|
NM_001113378.2(FANCI):c.1513-9C>G
|
|
|
|
NM_001113378.2(FANCI):c.1515C>A (p.Pro505=)
|
|
|
|
NM_001113378.2(FANCI):c.1560C>T (p.Val520=)
|
|
|
|
NM_001113378.2(FANCI):c.157+14A>G
|
|
|
|
NM_001113378.2(FANCI):c.157+16G>C
|
|
|
|
NM_001113378.2(FANCI):c.157+19A>T
|
|
|
|
NM_001113378.2(FANCI):c.157+2TAA[2]
|
|
|
|
NM_001113378.2(FANCI):c.158-15G>C
|
|
|
|
NM_001113378.2(FANCI):c.158-16T>C
|
rs749777770
|
|
|
NM_001113378.2(FANCI):c.158-18C>G
|
|
|
|
NM_001113378.2(FANCI):c.158-18C>T
|
|
|
|
NM_001113378.2(FANCI):c.158-19C>A
|
rs762350003
|
|
|
NM_001113378.2(FANCI):c.158-19C>T
|
|
|
|
NM_001113378.2(FANCI):c.158-20C>T
|
|
|
|
NM_001113378.2(FANCI):c.158-9A>T
|
|
|
|
NM_001113378.2(FANCI):c.1583+10A>G
|
|
|
|
NM_001113378.2(FANCI):c.1583+12C>T
|
|
|
|
NM_001113378.2(FANCI):c.1583+15T>C
|
|
|
|
NM_001113378.2(FANCI):c.1583+16T>G
|
|
|
|
NM_001113378.2(FANCI):c.1583+19T>G
|
|
|
|
NM_001113378.2(FANCI):c.1583+20A>G
|
|
|
|
NM_001113378.2(FANCI):c.1583+9C>T
|
|
|
|
NM_001113378.2(FANCI):c.1584-13A>G
|
|
|
|
NM_001113378.2(FANCI):c.1584-14T>G
|
rs2151579826
|
|
|
NM_001113378.2(FANCI):c.1584-15C>T
|
|
|
|
NM_001113378.2(FANCI):c.1584-20C>T
|
|
|
|
NM_001113378.2(FANCI):c.1593T>C (p.Asp531=)
|
|
|
|
NM_001113378.2(FANCI):c.1662A>G (p.Ser554=)
|
rs1596287918
|
|
|
NM_001113378.2(FANCI):c.1689T>C (p.Ser563=)
|
|
|
|
NM_001113378.2(FANCI):c.1698+10A>G
|
|
|
|
NM_001113378.2(FANCI):c.1698+11_1698+14del
|
rs763550734
|
|
|
NM_001113378.2(FANCI):c.1699-13G>A
|
|
|
|
NM_001113378.2(FANCI):c.1699-15del
|
|
|
|
NM_001113378.2(FANCI):c.1699-16C>T
|
|
|
|
NM_001113378.2(FANCI):c.1699-17G>A
|
|
|
|
NM_001113378.2(FANCI):c.1699-17del
|
rs746745862
|
|
|
NM_001113378.2(FANCI):c.1699-7del
|
|
|
|
NM_001113378.2(FANCI):c.1699-8C>T
|
|
|
|
NM_001113378.2(FANCI):c.1713T>C (p.Val571=)
|
|
|
|
NM_001113378.2(FANCI):c.1752C>T (p.Cys584=)
|
|
|
|
NM_001113378.2(FANCI):c.1761C>T (p.Ile587=)
|
|
|
|
NM_001113378.2(FANCI):c.1767T>C (p.Asp589=)
|
|
|
|
NM_001113378.2(FANCI):c.1777A>C (p.Arg593=)
|
|
|
|
NM_001113378.2(FANCI):c.1779A>G (p.Arg593=)
|
rs2151610817
|
|
|
NM_001113378.2(FANCI):c.1782C>T (p.Cys594=)
|
|
|
|
NM_001113378.2(FANCI):c.1797T>G (p.Ala599=)
|
|
|
|
NM_001113378.2(FANCI):c.180T>C (p.Ala60=)
|
rs2151252789
|
|
|
NM_001113378.2(FANCI):c.1821+13A>G
|
rs2151611385
|
|
|
NM_001113378.2(FANCI):c.1821+15T>C
|
|
|
|
NM_001113378.2(FANCI):c.1821+7C>G
|
|
|
|
NM_001113378.2(FANCI):c.1821+8C>T
|
rs1406084847
|
|
|
NM_001113378.2(FANCI):c.1822-12G>C
|
rs1348604439
|
|
|
NM_001113378.2(FANCI):c.1822-15T>C
|
|
|
|
NM_001113378.2(FANCI):c.1822-16C>A
|
|
|
|
NM_001113378.2(FANCI):c.1822-16C>T
|
|
|
|
NM_001113378.2(FANCI):c.1822-6T>C
|
|
|
|
NM_001113378.2(FANCI):c.1822-7del
|
rs1457763718
|
|
|
NM_001113378.2(FANCI):c.1822-8C>G
|
|
|
|
NM_001113378.2(FANCI):c.1833T>C (p.Asp611=)
|
rs2151689444
|
|
|
NM_001113378.2(FANCI):c.183A>G (p.Gly61=)
|
|
|
|
NM_001113378.2(FANCI):c.1860T>C (p.Ala620=)
|
|
|
|
NM_001113378.2(FANCI):c.1890+12T>C
|
|
|
|
NM_001113378.2(FANCI):c.1890+19G>T
|
|
|
|
NM_001113378.2(FANCI):c.1890+20A>C
|
|
|
|
NM_001113378.2(FANCI):c.1890+8A>G
|
|
|
|
NM_001113378.2(FANCI):c.1890+9C>T
|
|
|
|
NM_001113378.2(FANCI):c.1891-10C>A
|
|
|
|
NM_001113378.2(FANCI):c.1891-10C>T
|
|
|
|
NM_001113378.2(FANCI):c.1891-11A>G
|
|
|
|
NM_001113378.2(FANCI):c.1891-13T>C
|
|
|
|
NM_001113378.2(FANCI):c.1891-14C>G
|
|
|
|
NM_001113378.2(FANCI):c.1891-4A>G
|
|
|
|
NM_001113378.2(FANCI):c.1891-6A>G
|
rs878854175
|
|
|
NM_001113378.2(FANCI):c.1891-8A>G
|
|
|
|
NM_001113378.2(FANCI):c.1908G>A (p.Glu636=)
|
|
|
|
NM_001113378.2(FANCI):c.1944A>G (p.Glu648=)
|
|
|
|
NM_001113378.2(FANCI):c.1954C>T (p.Leu652=)
|
rs1433980751
|
|
|
NM_001113378.2(FANCI):c.1968T>C (p.Asp656=)
|
|
|
|
NM_001113378.2(FANCI):c.1978C>T (p.Leu660=)
|
|
|
|
NM_001113378.2(FANCI):c.1980A>G (p.Leu660=)
|
|
|
|
NM_001113378.2(FANCI):c.1983A>G (p.Gln661=)
|
|
|
|
NM_001113378.2(FANCI):c.1986A>G (p.Glu662=)
|
rs769047323
|
|
|
NM_001113378.2(FANCI):c.1989A>C (p.Pro663=)
|
|
|
|
NM_001113378.2(FANCI):c.1989A>G (p.Pro663=)
|
|
|
|
NM_001113378.2(FANCI):c.198T>C (p.Arg66=)
|
|
|
|
NM_001113378.2(FANCI):c.1992+12A>G
|
|
|
|
NM_001113378.2(FANCI):c.1992+15C>T
|
rs931290756
|
|
|
NM_001113378.2(FANCI):c.1993-15T>C
|
|
|
|
NM_001113378.2(FANCI):c.1993-17C>G
|
|
|
|
NM_001113378.2(FANCI):c.1993-19_1993-15del
|
rs2151723581
|
|
|
NM_001113378.2(FANCI):c.1993-7C>T
|
|
|
|
NM_001113378.2(FANCI):c.1998T>C (p.Tyr666=)
|
|
|
|
NM_001113378.2(FANCI):c.2004G>A (p.Leu668=)
|
|
|
|
NM_001113378.2(FANCI):c.2004G>T (p.Leu668=)
|
|
|
|
NM_001113378.2(FANCI):c.2019T>C (p.His673=)
|
|
|
|
NM_001113378.2(FANCI):c.2052C>G (p.Pro684=)
|
|
|
|
NM_001113378.2(FANCI):c.2076G>A (p.Glu692=)
|
|
|
|
NM_001113378.2(FANCI):c.207C>T (p.Tyr69=)
|
|
|
|
NM_001113378.2(FANCI):c.2091A>G (p.Ala697=)
|
rs1262206533
|
|
|
NM_001113378.2(FANCI):c.2104C>T (p.Leu702=)
|
rs376376537
|
|
|
NM_001113378.2(FANCI):c.2106A>G (p.Leu702=)
|
rs2151725234
|
|
|
NM_001113378.2(FANCI):c.2116T>C (p.Leu706=)
|
|
|
|
NM_001113378.2(FANCI):c.2121G>A (p.Glu707=)
|
rs2151725442
|
|
|
NM_001113378.2(FANCI):c.2133T>C (p.Asn711=)
|
rs2054118261
|
|
|
NM_001113378.2(FANCI):c.2163T>C (p.Phe721=)
|
rs1263993972
|
|
|
NM_001113378.2(FANCI):c.2167C>T (p.Leu723=)
|
rs878854177
|
|
|
NM_001113378.2(FANCI):c.2169+15C>T
|
|
|
|
NM_001113378.2(FANCI):c.2169+18A>G
|
|
|
|
NM_001113378.2(FANCI):c.2169+9T>C
|
rs1205906508
|
|
|
NM_001113378.2(FANCI):c.2169+9T>G
|
|
|
|
NM_001113378.2(FANCI):c.2170-4T>C
|
rs1167442446
|
|
|
NM_001113378.2(FANCI):c.2170-7C>A
|
rs759281018
|
|
|
NM_001113378.2(FANCI):c.2170-9_2170-8del
|
|
|
|
NM_001113378.2(FANCI):c.2175A>G (p.Lys725=)
|
|
|
|
NM_001113378.2(FANCI):c.2196C>T (p.Ser732=)
|
|
|
|
NM_001113378.2(FANCI):c.219C>T (p.Ile73=)
|
rs928688700
|
|
|
NM_001113378.2(FANCI):c.222G>A (p.Gln74=)
|
|
|
|
NM_001113378.2(FANCI):c.2274C>T (p.Phe758=)
|
|
|
|
NM_001113378.2(FANCI):c.2291+10T>C
|
|
|
|
NM_001113378.2(FANCI):c.2291+15T>C
|
rs2151728206
|
|
|
NM_001113378.2(FANCI):c.2291+20C>A
|
|
|
|
NM_001113378.2(FANCI):c.2292-12T>C
|
|
|
|
NM_001113378.2(FANCI):c.2292-17T>C
|
rs775115671
|
|
|
NM_001113378.2(FANCI):c.2292-18C>A
|
rs901102009
|
|
|
NM_001113378.2(FANCI):c.2292-20C>G
|
|
|
|
NM_001113378.2(FANCI):c.2292-8_2292-7insAT
|
|
|
|
NM_001113378.2(FANCI):c.2298T>C (p.Asn766=)
|
|
|
|
NM_001113378.2(FANCI):c.2307G>A (p.Glu769=)
|
|
|
|
NM_001113378.2(FANCI):c.2310C>T (p.Asp770=)
|
rs1169269440
|
|
|
NM_001113378.2(FANCI):c.2314C>T (p.Leu772=)
|
|
|
|
NM_001113378.2(FANCI):c.2319C>T (p.Ser773=)
|
|
|
|
NM_001113378.2(FANCI):c.231A>G (p.Glu77=)
|
|
|
|
NM_001113378.2(FANCI):c.2343C>G (p.Leu781=)
|
rs1377037041
|
|
|
NM_001113378.2(FANCI):c.2343C>T (p.Leu781=)
|
|
|
|
NM_001113378.2(FANCI):c.234G>A (p.Ser78=)
|
|
|
|
NM_001113378.2(FANCI):c.2352T>A (p.Ile784=)
|
|
|
|
NM_001113378.2(FANCI):c.2364A>G (p.Lys788=)
|
|
|
|
NM_001113378.2(FANCI):c.2370T>A (p.Gly790=)
|
rs2151740808
|
|
|
NM_001113378.2(FANCI):c.237G>A (p.Gly79=)
|
|
|
|
NM_001113378.2(FANCI):c.2382T>G (p.Thr794=)
|
rs2151740871
|
|
|
NM_001113378.2(FANCI):c.2390C>T (p.Ala797Val)
|
rs761136936
|
|
|
NM_001113378.2(FANCI):c.2400A>G (p.Thr800=)
|
|
|
|
NM_001113378.2(FANCI):c.241T>C (p.Leu81=)
|
|
|
|
NM_001113378.2(FANCI):c.2424A>G (p.Lys808=)
|
|
|
|
NM_001113378.2(FANCI):c.2456+10T>C
|
rs2151741937
|
|
|
NM_001113378.2(FANCI):c.2456+12C>G
|
|
|
|
NM_001113378.2(FANCI):c.2456+16A>G
|
|
|
|
NM_001113378.2(FANCI):c.2456+17G>C
|
|
|
|
NM_001113378.2(FANCI):c.2456+19G>A
|
|
|
|
NM_001113378.2(FANCI):c.2457-10C>G
|
|
|
|
NM_001113378.2(FANCI):c.2457-11TC[3]
|
|
|
|
NM_001113378.2(FANCI):c.2457-12G>A
|
|
|
|
NM_001113378.2(FANCI):c.2457-12G>C
|
|
|
|
NM_001113378.2(FANCI):c.2457-12_2457-3del
|
|
|
|
NM_001113378.2(FANCI):c.2457-16C>G
|
|
|
|
NM_001113378.2(FANCI):c.2457-16C>T
|
|
|
|
NM_001113378.2(FANCI):c.2457-18C>T
|
|
|
|
NM_001113378.2(FANCI):c.2457-20C>G
|
|
|
|
NM_001113378.2(FANCI):c.2457-20C>T
|
|
|
|
NM_001113378.2(FANCI):c.2457-23TC[3]
|
rs751389631
|
|
|
NM_001113378.2(FANCI):c.2457-4C>A
|
|
|
|
NM_001113378.2(FANCI):c.2457-4C>T
|
|
|
|
NM_001113378.2(FANCI):c.2457-7T>C
|
|
|
|
NM_001113378.2(FANCI):c.2457-8C>G
|
rs2151754256
|
|
|
NM_001113378.2(FANCI):c.2457-8C>T
|
rs2151754256
|
|
|
NM_001113378.2(FANCI):c.2484C>T (p.Ser828=)
|
rs750041727
|
|
|
NM_001113378.2(FANCI):c.2496C>T (p.Leu832=)
|
|
|
|
NM_001113378.2(FANCI):c.24A>G (p.Leu8=)
|
|
|
|
NM_001113378.2(FANCI):c.2520C>A (p.Arg840=)
|
|
|
|
NM_001113378.2(FANCI):c.2520C>T (p.Arg840=)
|
|
|
|
NM_001113378.2(FANCI):c.2532T>C (p.Asn844=)
|
|
|
|
NM_001113378.2(FANCI):c.2544G>A (p.Gln848=)
|
|
|
|
NM_001113378.2(FANCI):c.2550A>G (p.Val850=)
|
|
|
|
NM_001113378.2(FANCI):c.2553G>A (p.Gln851=)
|
|
|
|
NM_001113378.2(FANCI):c.2568A>G (p.Thr856=)
|
|
|
|
NM_001113378.2(FANCI):c.2571G>A (p.Gly857=)
|
rs2151755630
|
|
|
NM_001113378.2(FANCI):c.2583C>A (p.Gly861=)
|
|
|
|
NM_001113378.2(FANCI):c.2586T>C (p.Pro862=)
|
|
|
|
NM_001113378.2(FANCI):c.258G>A (p.Ala86=)
|
rs750230813
|
|
|
NM_001113378.2(FANCI):c.258G>T (p.Ala86=)
|
|
|
|
NM_001113378.2(FANCI):c.2592C>A (p.Gly864=)
|
|
|
|
NM_001113378.2(FANCI):c.2616G>A (p.Gln872=)
|
|
|
|
NM_001113378.2(FANCI):c.2619C>T (p.Asn873=)
|
|
|
|
NM_001113378.2(FANCI):c.2636+10T>A
|
|
|
|
NM_001113378.2(FANCI):c.2636+11C>G
|
rs1596307878
|
|
|
NM_001113378.2(FANCI):c.2636+12C>G
|
|
|
|
NM_001113378.2(FANCI):c.2636+18C>A
|
|
|
|
NM_001113378.2(FANCI):c.2636+18C>T
|
|
|
|
NM_001113378.2(FANCI):c.2636+7C>A
|
rs1264792365
|
|
|
NM_001113378.2(FANCI):c.2636+7C>T
|
|
|
|
NM_001113378.2(FANCI):c.2636+8A>G
|
|
|
|
NM_001113378.2(FANCI):c.2636+9C>A
|
|
|
|
NM_001113378.2(FANCI):c.2636+9C>T
|
|
|
|
NM_001113378.2(FANCI):c.2637-12C>A
|
|
|
|
NM_001113378.2(FANCI):c.2637-12C>G
|
|
|
|
NM_001113378.2(FANCI):c.2637-15T>C
|
rs2151838036
|
|
|
NM_001113378.2(FANCI):c.2637-16C>T
|
|
|
|
NM_001113378.2(FANCI):c.2637-18C>T
|
|
|
|
NM_001113378.2(FANCI):c.2637-19C>T
|
|
|
|
NM_001113378.2(FANCI):c.2637-5T>C
|
|
|
|
NM_001113378.2(FANCI):c.2640C>A (p.Val880=)
|
|
|
|
NM_001113378.2(FANCI):c.2644C>T (p.Leu882=)
|
|
|
|
NM_001113378.2(FANCI):c.2646A>C (p.Leu882=)
|
|
|
|
NM_001113378.2(FANCI):c.264G>A (p.Glu88=)
|
|
|
|
NM_001113378.2(FANCI):c.2658T>C (p.Thr886=)
|
|
|
|
NM_001113378.2(FANCI):c.2658T>G (p.Thr886=)
|
|
|
|
NM_001113378.2(FANCI):c.2670T>C (p.Thr890=)
|
|
|
|
NM_001113378.2(FANCI):c.2703A>G (p.Gly901=)
|
|
|
|
NM_001113378.2(FANCI):c.2724C>T (p.Cys908=)
|
|
|
|
NM_001113378.2(FANCI):c.2727G>A (p.Leu909=)
|
|
|
|
NM_001113378.2(FANCI):c.2733T>C (p.Gly911=)
|
|
|
|
NM_001113378.2(FANCI):c.2736A>G (p.Leu912=)
|
rs768880495
|
|
|
NM_001113378.2(FANCI):c.2781T>A (p.Ile927=)
|
rs771106622
|
|
|
NM_001113378.2(FANCI):c.2793C>T (p.Leu931=)
|
|
|
|
NM_001113378.2(FANCI):c.2803+11C>G
|
|
|
|
NM_001113378.2(FANCI):c.2803+13G>A
|
|
|
|
NM_001113378.2(FANCI):c.2803+16T>A
|
|
|
|
NM_001113378.2(FANCI):c.2803+18A>T
|
|
|
|
NM_001113378.2(FANCI):c.2803+19A>G
|
|
|
|
NM_001113378.2(FANCI):c.2803+8T>C
|
|
|
|
NM_001113378.2(FANCI):c.2804-19G>A
|
|
|
|
NM_001113378.2(FANCI):c.2804-4C>A
|
|
|
|
NM_001113378.2(FANCI):c.2804-5C>G
|
|
|
|
NM_001113378.2(FANCI):c.2804-9C>T
|
|
|
|
NM_001113378.2(FANCI):c.2832A>G (p.Arg944=)
|
rs79685648
|
|
|
NM_001113378.2(FANCI):c.283C>T (p.Leu95=)
|
|
|
|
NM_001113378.2(FANCI):c.2847C>T (p.Val949=)
|
|
|
|
NM_001113378.2(FANCI):c.2850T>C (p.Ser950=)
|
|
|
|
NM_001113378.2(FANCI):c.2868A>G (p.Ala956=)
|
rs2151845184
|
|
|
NM_001113378.2(FANCI):c.2877C>A (p.Ile959=)
|
|
|
|
NM_001113378.2(FANCI):c.288+10C>G
|
|
|
|
NM_001113378.2(FANCI):c.288+13del
|
rs748948721
|
|
|
NM_001113378.2(FANCI):c.288+18_288+19delinsTC
|
rs2151254662
|
|
|
NM_001113378.2(FANCI):c.288+19A>T
|
|
|
|
NM_001113378.2(FANCI):c.2889+13G>T
|
|
|
|
NM_001113378.2(FANCI):c.2889+16A>G
|
|
|
|
NM_001113378.2(FANCI):c.2889+20T>A
|
rs2151845568
|
|
|
NM_001113378.2(FANCI):c.289-13T>C
|
|
|
|
NM_001113378.2(FANCI):c.289-15C>G
|
|
|
|
NM_001113378.2(FANCI):c.289-15C>T
|
|
|
|
NM_001113378.2(FANCI):c.289-17A>G
|
rs2052714114
|
|
|
NM_001113378.2(FANCI):c.2890-15G>A
|
|
|
|
NM_001113378.2(FANCI):c.2892G>A (p.Arg964=)
|
rs780232353
|
|
|
NM_001113378.2(FANCI):c.2896T>C (p.Leu966=)
|
rs1042620375
|
|
|
NM_001113378.2(FANCI):c.2937C>T (p.Ser979=)
|
|
|
|
NM_001113378.2(FANCI):c.2949C>A (p.Leu983=)
|
rs2151859425
|
|
|
NM_001113378.2(FANCI):c.294C>T (p.His98=)
|
|
|
|
NM_001113378.2(FANCI):c.2958C>T (p.Val986=)
|
|
|
|
NM_001113378.2(FANCI):c.2961G>A (p.Thr987=)
|
|
|
|
NM_001113378.2(FANCI):c.2961G>C (p.Thr987=)
|
|
|
|
NM_001113378.2(FANCI):c.2961G>T (p.Thr987=)
|
|
|
|
NM_001113378.2(FANCI):c.2985A>G (p.Leu995=)
|
|
|
|
NM_001113378.2(FANCI):c.3006+12G>A
|
|
|
|
NM_001113378.2(FANCI):c.3006+13C>A
|
|
|
|
NM_001113378.2(FANCI):c.3006+13C>T
|
rs1412674861
|
|
|
NM_001113378.2(FANCI):c.3006+20A>C
|
rs1173017190
|
|
|
NM_001113378.2(FANCI):c.3006+7G>A
|
|
|
|
NM_001113378.2(FANCI):c.3007-18G>A
|
|
|
|
NM_001113378.2(FANCI):c.3007-9C>G
|
|
|
|
NM_001113378.2(FANCI):c.3024C>T (p.Ser1008=)
|
|
|
|
NM_001113378.2(FANCI):c.3030A>G (p.Thr1010=)
|
|
|
|
NM_001113378.2(FANCI):c.3036G>A (p.Lys1012=)
|
|
|
|
NM_001113378.2(FANCI):c.3058+10C>T
|
rs1375877085
|
|
|
NM_001113378.2(FANCI):c.3058+15A>G
|
|
|
|
NM_001113378.2(FANCI):c.3058+8T>C
|
|
|
|
NM_001113378.2(FANCI):c.3059-11C>T
|
rs2054667046
|
|
|
NM_001113378.2(FANCI):c.3059-14C>A
|
|
|
|
NM_001113378.2(FANCI):c.3059-18T>C
|
|
|
|
NM_001113378.2(FANCI):c.3059-4C>G
|
rs747570773
|
|
|
NM_001113378.2(FANCI):c.3059-4C>T
|
rs747570773
|
|
|
NM_001113378.2(FANCI):c.3059-4dup
|
rs1317953100
|
|
|
NM_001113378.2(FANCI):c.3066C>T (p.Ala1022=)
|
|
|
|
NM_001113378.2(FANCI):c.3075C>T (p.Cys1025=)
|
|
|
|
NM_001113378.2(FANCI):c.3078G>A (p.Lys1026=)
|
rs2151913000
|
|
|
NM_001113378.2(FANCI):c.3096C>T (p.Leu1032=)
|
rs2151913106
|
|
|
NM_001113378.2(FANCI):c.309A>G (p.Pro103=)
|
|
|
|
NM_001113378.2(FANCI):c.3105G>A (p.Leu1035=)
|
|
|
|
NM_001113378.2(FANCI):c.3105G>C (p.Leu1035=)
|
|
|
|
NM_001113378.2(FANCI):c.3114G>T (p.Ser1038=)
|
rs567952571
|
|
|
NM_001113378.2(FANCI):c.3117T>C (p.Tyr1039=)
|
rs2151913256
|
|
|
NM_001113378.2(FANCI):c.3129C>T (p.Val1043=)
|
|
|
|
NM_001113378.2(FANCI):c.312A>G (p.Leu104=)
|
|
|
|
NM_001113378.2(FANCI):c.3136C>T (p.Leu1046=)
|
|
|
|
NM_001113378.2(FANCI):c.3147G>A (p.Leu1049=)
|
|
|
|
NM_001113378.2(FANCI):c.3150C>T (p.Ser1050=)
|
|
|
|
NM_001113378.2(FANCI):c.3165G>A (p.Gly1055=)
|
rs1596324375
|
|
|
NM_001113378.2(FANCI):c.3171G>A (p.Leu1057=)
|
rs564447394
|
|
|
NM_001113378.2(FANCI):c.3183C>T (p.Asp1061=)
|
|
|
|
NM_001113378.2(FANCI):c.3186+10T>C
|
|
|
|
NM_001113378.2(FANCI):c.3186+14C>T
|
|
|
|
NM_001113378.2(FANCI):c.3187-11C>G
|
|
|
|
NM_001113378.2(FANCI):c.3187-12T>C
|
|
|
|
NM_001113378.2(FANCI):c.3187-13T>G
|
|
|
|
NM_001113378.2(FANCI):c.3187-14C>A
|
|
|
|
NM_001113378.2(FANCI):c.3187-16C>T
|
|
|
|
NM_001113378.2(FANCI):c.3187-18C>G
|
|
|
|
NM_001113378.2(FANCI):c.3195G>A (p.Glu1065=)
|
|
|
|
NM_001113378.2(FANCI):c.3219A>G (p.Ala1073=)
|
|
|
|
NM_001113378.2(FANCI):c.3231G>A (p.Leu1077=)
|
|
|
|
NM_001113378.2(FANCI):c.3234A>G (p.Arg1078=)
|
rs1596324690
|
|
|
NM_001113378.2(FANCI):c.3237G>T (p.Thr1079=)
|
|
|
|
NM_001113378.2(FANCI):c.3246C>T (p.Pro1082=)
|
|
|
|
NM_001113378.2(FANCI):c.324A>G (p.Leu108=)
|
rs1427386763
|
|
|
NM_001113378.2(FANCI):c.3255+10G>A
|
|
|
|
NM_001113378.2(FANCI):c.3255+16G>A
|
rs2151915712
|
|
|
NM_001113378.2(FANCI):c.3256-17G>C
|
|
|
|
NM_001113378.2(FANCI):c.3256-19A>G
|
|
|
|
NM_001113378.2(FANCI):c.3256-9_3256-8del
|
rs752376850
|
|
|
NM_001113378.2(FANCI):c.3264T>A (p.Val1088=)
|
|
|
|
NM_001113378.2(FANCI):c.3265C>T (p.Leu1089=)
|
|
|
|
NM_001113378.2(FANCI):c.3276C>T (p.Ala1092=)
|
|
|
|
NM_001113378.2(FANCI):c.327C>T (p.Ala109=)
|
|
|
|
NM_001113378.2(FANCI):c.3282G>A (p.Lys1094=)
|
|
|
|
NM_001113378.2(FANCI):c.3285T>C (p.Val1095=)
|
rs1567174233
|
|
|
NM_001113378.2(FANCI):c.3286C>T (p.Leu1096=)
|
|
|
|
NM_001113378.2(FANCI):c.3288A>T (p.Leu1096=)
|
|
|
|
NM_001113378.2(FANCI):c.3291A>G (p.Glu1097=)
|
rs2054690236
|
|
|
NM_001113378.2(FANCI):c.3306A>T (p.Leu1102=)
|
|
|
|
NM_001113378.2(FANCI):c.3309C>T (p.Ile1103=)
|
|
|
|
NM_001113378.2(FANCI):c.3312C>T (p.Thr1104=)
|
|
|
|
NM_001113378.2(FANCI):c.3324A>G (p.Gly1108=)
|
|
|
|
NM_001113378.2(FANCI):c.3333C>T (p.Ser1111=)
|
|
|
|
NM_001113378.2(FANCI):c.3349+10G>A
|
rs1337260318
|
|
|
NM_001113378.2(FANCI):c.3349+17del
|
|
|
|
NM_001113378.2(FANCI):c.3350-8C>T
|
rs1398425984
|
|
|
NM_001113378.2(FANCI):c.3357C>G (p.Ala1119=)
|
|
|
|
NM_001113378.2(FANCI):c.336T>C (p.Phe112=)
|
|
|
|
NM_001113378.2(FANCI):c.3384G>A (p.Gln1128=)
|
rs988319051
|
|
|
NM_001113378.2(FANCI):c.3396A>G (p.Lys1132=)
|
|
|
|
NM_001113378.2(FANCI):c.3399T>C (p.Ala1133=)
|
|
|
|
NM_001113378.2(FANCI):c.3411A>G (p.Gln1137=)
|
rs781569040
|
|
|
NM_001113378.2(FANCI):c.3423G>A (p.Leu1141=)
|
rs1596325708
|
|
|
NM_001113378.2(FANCI):c.3423G>C (p.Leu1141=)
|
|
|
|
NM_001113378.2(FANCI):c.3426T>C (p.Leu1142=)
|
rs748087226
|
|
|
NM_001113378.2(FANCI):c.342T>C (p.Ser114=)
|
|
|
|
NM_001113378.2(FANCI):c.3438C>T (p.His1146=)
|
|
|
|
NM_001113378.2(FANCI):c.345T>C (p.Ala115=)
|
|
|
|
NM_001113378.2(FANCI):c.3462A>G (p.Pro1154=)
|
|
|
|
NM_001113378.2(FANCI):c.3486G>A (p.Leu1162=)
|
|
|
|
NM_001113378.2(FANCI):c.3516A>G (p.Thr1172=)
|
|
|
|
NM_001113378.2(FANCI):c.3525C>T (p.Ala1175=)
|
rs114810692
|
|
|
NM_001113378.2(FANCI):c.3528T>C (p.Leu1176=)
|
|
|
|
NM_001113378.2(FANCI):c.3531C>A (p.Val1177=)
|
|
|
|
NM_001113378.2(FANCI):c.3537+18G>A
|
|
|
|
NM_001113378.2(FANCI):c.3537+19C>G
|
rs2054711237
|
|
|
NM_001113378.2(FANCI):c.3537+19C>T
|
|
|
|
NM_001113378.2(FANCI):c.3538-11T>G
|
|
|
|
NM_001113378.2(FANCI):c.3538-12T>C
|
|
|
|
NM_001113378.2(FANCI):c.3538-12T>G
|
|
|
|
NM_001113378.2(FANCI):c.3538-19A>G
|
|
|
|
NM_001113378.2(FANCI):c.3538-6T>A
|
|
|
|
NM_001113378.2(FANCI):c.3543C>G (p.Leu1181=)
|
|
|
|
NM_001113378.2(FANCI):c.3546G>A (p.Gln1182=)
|
rs1349708901
|
|
|
NM_001113378.2(FANCI):c.3549G>C (p.Val1183=)
|
|
|
|
NM_001113378.2(FANCI):c.3558C>T (p.Ser1186=)
|
|
|
|
NM_001113378.2(FANCI):c.3561C>A (p.Ser1187=)
|
|
|
|
NM_001113378.2(FANCI):c.3570T>A (p.Ile1190=)
|
|
|
|
NM_001113378.2(FANCI):c.3591+13del
|
|
|
|
NM_001113378.2(FANCI):c.3591+15C>G
|
|
|
|
NM_001113378.2(FANCI):c.3591+16C>G
|
|
|
|
NM_001113378.2(FANCI):c.3591+16C>T
|
|
|
|
NM_001113378.2(FANCI):c.3591+8G>A
|
|
|
|
NM_001113378.2(FANCI):c.3592-12C>T
|
rs2054775391
|
|
|
NM_001113378.2(FANCI):c.3592-14C>T
|
|
|
|
NM_001113378.2(FANCI):c.3592-19C>T
|
|
|
|
NM_001113378.2(FANCI):c.3592-20C>T
|
|
|
|
NM_001113378.2(FANCI):c.3592-6G>T
|
|
|
|
NM_001113378.2(FANCI):c.3592-7_3592-5del
|
|
|
|
NM_001113378.2(FANCI):c.3594G>C (p.Val1198=)
|
|
|
|
NM_001113378.2(FANCI):c.3600G>A (p.Leu1200=)
|
|
|
|
NM_001113378.2(FANCI):c.3615G>C (p.Leu1205=)
|
|
|
|
NM_001113378.2(FANCI):c.3621C>A (p.Pro1207=)
|
|
|
|
NM_001113378.2(FANCI):c.3621C>G (p.Pro1207=)
|
|
|
|
NM_001113378.2(FANCI):c.3622C>T (p.Leu1208=)
|
rs1448880215
|
|
|
NM_001113378.2(FANCI):c.3630T>C (p.Tyr1210=)
|
|
|
|
NM_001113378.2(FANCI):c.3636C>T (p.Phe1212=)
|
|
|
|
NM_001113378.2(FANCI):c.363A>G (p.Leu121=)
|
rs1596243244
|
|
|
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=)
|
rs760364969
|
|
|
NM_001113378.2(FANCI):c.3651+12A>G
|
|
|
|
NM_001113378.2(FANCI):c.3651+14A>G
|
|
|
|
NM_001113378.2(FANCI):c.3651+18A>C
|
|
|
|
NM_001113378.2(FANCI):c.3652-10A>G
|
rs202231175
|
|
|
NM_001113378.2(FANCI):c.3652-10A>T
|
rs202231175
|
|
|
NM_001113378.2(FANCI):c.3652-11T>C
|
|
|
|
NM_001113378.2(FANCI):c.3652-12C>A
|
|
|
|
NM_001113378.2(FANCI):c.3652-16G>A
|
|
|
|
NM_001113378.2(FANCI):c.3652-16G>C
|
rs537857278
|
|
|
NM_001113378.2(FANCI):c.3652-18del
|
rs763430013
|
|
|
NM_001113378.2(FANCI):c.3654T>C (p.Asn1218=)
|
|
|
|
NM_001113378.2(FANCI):c.3669G>C (p.Leu1223=)
|
|
|
|
NM_001113378.2(FANCI):c.366G>A (p.Val122=)
|
|
|
|
NM_001113378.2(FANCI):c.3678G>C (p.Thr1226=)
|
rs748187517
|
|
|
NM_001113378.2(FANCI):c.3696A>G (p.Lys1232=)
|
|
|
|
NM_001113378.2(FANCI):c.3714A>T (p.Thr1238=)
|
|
|
|
NM_001113378.2(FANCI):c.3720+11G>A
|
|
|
|
NM_001113378.2(FANCI):c.3720+14A>T
|
|
|
|
NM_001113378.2(FANCI):c.3720+16T>A
|
|
|
|
NM_001113378.2(FANCI):c.3720+16_3720+19del
|
rs759240153
|
|
|
NM_001113378.2(FANCI):c.3720+20C>A
|
|
|
|
NM_001113378.2(FANCI):c.3720+20C>G
|
|
|
|
NM_001113378.2(FANCI):c.3720+20C>T
|
rs572665348
|
|
|
NM_001113378.2(FANCI):c.3721-16T>C
|
|
|
|
NM_001113378.2(FANCI):c.3721-20C>G
|
rs2152016160
|
|
|
NM_001113378.2(FANCI):c.3721-20C>T
|
|
|
|
NM_001113378.2(FANCI):c.3721-6C>T
|
rs2152016648
|
|
|
NM_001113378.2(FANCI):c.372A>G (p.Gly124=)
|
rs2151268209
|
|
|
NM_001113378.2(FANCI):c.3753T>G (p.Pro1251=)
|
|
|
|
NM_001113378.2(FANCI):c.3756C>T (p.Asn1252=)
|
|
|
|
NM_001113378.2(FANCI):c.3759C>G (p.Leu1253=)
|
|
|
|
NM_001113378.2(FANCI):c.3777G>A (p.Gln1259=)
|
|
|
|
NM_001113378.2(FANCI):c.3795C>A (p.Ile1265=)
|
|
|
|
NM_001113378.2(FANCI):c.3816+10C>T
|
|
|
|
NM_001113378.2(FANCI):c.3816+12_3816+13del
|
|
|
|
NM_001113378.2(FANCI):c.3816+16T>C
|
|
|
|
NM_001113378.2(FANCI):c.3816+18A>T
|
|
|
|
NM_001113378.2(FANCI):c.3817-10C>T
|
|
|
|
NM_001113378.2(FANCI):c.3817-11T>C
|
|
|
|
NM_001113378.2(FANCI):c.3817-13A>C
|
|
|
|
NM_001113378.2(FANCI):c.3817-13A>G
|
|
|
|
NM_001113378.2(FANCI):c.3817-14C>A
|
|
|
|
NM_001113378.2(FANCI):c.3817-18C>T
|
|
|
|
NM_001113378.2(FANCI):c.3817-8T>C
|
|
|
|
NM_001113378.2(FANCI):c.3817-8T>G
|
|
|
|
NM_001113378.2(FANCI):c.3817-9T>C
|
|
|
|
NM_001113378.2(FANCI):c.3819G>C (p.Val1273=)
|
|
|
|
NM_001113378.2(FANCI):c.3822C>T (p.Asn1274=)
|
|
|
|
NM_001113378.2(FANCI):c.3831G>A (p.Gln1277=)
|
|
|
|
NM_001113378.2(FANCI):c.3840G>A (p.Lys1280=)
|
|
|
|
NM_001113378.2(FANCI):c.3849C>T (p.Thr1283=)
|
|
|
|
NM_001113378.2(FANCI):c.384G>A (p.Glu128=)
|
|
|
|
NM_001113378.2(FANCI):c.3864G>A (p.Lys1288=)
|
rs2152030838
|
|
|
NM_001113378.2(FANCI):c.3880C>T (p.Leu1294=)
|
|
|
|
NM_001113378.2(FANCI):c.3882A>G (p.Leu1294=)
|
|
|
|
NM_001113378.2(FANCI):c.388C>T (p.Leu130=)
|
|
|
|
NM_001113378.2(FANCI):c.390A>G (p.Leu130=)
|
|
|
|
NM_001113378.2(FANCI):c.3918T>C (p.Asn1306=)
|
rs561190476
|
|
|
NM_001113378.2(FANCI):c.3921A>G (p.Glu1307=)
|
|
|
|
NM_001113378.2(FANCI):c.3924+12C>A
|
|
|
|
NM_001113378.2(FANCI):c.3924+12C>T
|
|
|
|
NM_001113378.2(FANCI):c.3924+15_3924+16del
|
|
|
|
NM_001113378.2(FANCI):c.3924+16T>C
|
|
|
|
NM_001113378.2(FANCI):c.3924+17G>A
|
|
|
|
NM_001113378.2(FANCI):c.3924+19C>T
|
|
|
|
NM_001113378.2(FANCI):c.3924+20T>C
|
|
|
|
NM_001113378.2(FANCI):c.3924+8C>T
|
rs2055187470
|
|
|
NM_001113378.2(FANCI):c.3925-11del
|
|
|
|
NM_001113378.2(FANCI):c.3925-13_3925-10dup
|
|
|
|
NM_001113378.2(FANCI):c.3925-14C>A
|
|
|
|
NM_001113378.2(FANCI):c.3925-14C>T
|
|
|
|
NM_001113378.2(FANCI):c.3925-15_3925-11dup
|
|
|
|
NM_001113378.2(FANCI):c.3925-17A>C
|
|
|
|
NM_001113378.2(FANCI):c.3925-17A>G
|
rs1164805902
|
|
|
NM_001113378.2(FANCI):c.3925-5T>C
|
|
|
|
NM_001113378.2(FANCI):c.3925-6T>G
|
|
|
|
NM_001113378.2(FANCI):c.3925-7C>T
|
rs1389176310
|
|
|
NM_001113378.2(FANCI):c.3925-9C>T
|
rs750218626
|
|
|
NM_001113378.2(FANCI):c.3927C>T (p.Gly1309=)
|
rs1275616370
|
|
|
NM_001113378.2(FANCI):c.3939G>A (p.Glu1313=)
|
|
|
|
NM_001113378.2(FANCI):c.393T>G (p.Pro131=)
|
|
|
|
NM_001113378.2(FANCI):c.3948A>G (p.Gly1316=)
|
rs1443770274
|
|
|
NM_001113378.2(FANCI):c.3969G>A (p.Lys1323=)
|
|
|
|
NM_001113378.2(FANCI):c.3984A>G (p.Lys1328=)
|
|
|
|
NM_001113378.2(FANCI):c.438T>C (p.Tyr146=)
|
|
|
|
NM_001113378.2(FANCI):c.441A>G (p.Gly147=)
|
|
|
|
NM_001113378.2(FANCI):c.445+11T>G
|
|
|
|
NM_001113378.2(FANCI):c.445+12C>T
|
|
|
|
NM_001113378.2(FANCI):c.445+13C>A
|
|
|
|
NM_001113378.2(FANCI):c.445+15A>T
|
|
|
|
NM_001113378.2(FANCI):c.446-10G>A
|
|
|
|
NM_001113378.2(FANCI):c.446-17A>G
|
rs768395269
|
|
|
NM_001113378.2(FANCI):c.446-20A>G
|
|
|
|
NM_001113378.2(FANCI):c.446-4C>A
|
rs1178021756
|
|
|
NM_001113378.2(FANCI):c.446-7T>C
|
|
|
|
NM_001113378.2(FANCI):c.483T>A (p.Ile161=)
|
|
|
|
NM_001113378.2(FANCI):c.489C>G (p.Thr163=)
|
|
|
|
NM_001113378.2(FANCI):c.490C>T (p.Leu164=)
|
|
|
|
NM_001113378.2(FANCI):c.501C>G (p.Gly167=)
|
|
|
|
NM_001113378.2(FANCI):c.503+19T>G
|
|
|
|
NM_001113378.2(FANCI):c.504-10C>A
|
|
|
|
NM_001113378.2(FANCI):c.504-10C>T
|
|
|
|
NM_001113378.2(FANCI):c.504-12T>C
|
|
|
|
NM_001113378.2(FANCI):c.504-15A>G
|
|
|
|
NM_001113378.2(FANCI):c.504-16C>T
|
rs1293392490
|
|
|
NM_001113378.2(FANCI):c.504-5A>G
|
|
|
|
NM_001113378.2(FANCI):c.504-7C>T
|
|
|
|
NM_001113378.2(FANCI):c.516A>G (p.Gln172=)
|
|
|
|
NM_001113378.2(FANCI):c.519T>C (p.Tyr173=)
|
rs1392387292
|
|
|
NM_001113378.2(FANCI):c.51G>T (p.Leu17=)
|
|
|
|
NM_001113378.2(FANCI):c.531C>G (p.Leu177=)
|
|
|
|
NM_001113378.2(FANCI):c.545+12C>G
|
rs2052802070
|
|
|
NM_001113378.2(FANCI):c.545+17C>T
|
|
|
|
NM_001113378.2(FANCI):c.545+18C>T
|
|
|
|
NM_001113378.2(FANCI):c.545+7A>G
|
rs1439143383
|
|
|
NM_001113378.2(FANCI):c.545+9C>T
|
|
|
|
NM_001113378.2(FANCI):c.546-18A>G
|
rs2151297022
|
|
|
NM_001113378.2(FANCI):c.546-4A>G
|
|
|
|
NM_001113378.2(FANCI):c.555T>C (p.Pro185=)
|
|
|
|
NM_001113378.2(FANCI):c.558G>C (p.Leu186=)
|
rs746658213
|
|
|
NM_001113378.2(FANCI):c.564A>G (p.Ala188=)
|
rs1376947158
|
|
|
NM_001113378.2(FANCI):c.573G>A (p.Val191=)
|
|
|
|
NM_001113378.2(FANCI):c.576A>G (p.Glu192=)
|
|
|
|
NM_001113378.2(FANCI):c.594A>G (p.Ala198=)
|
|
|
|
NM_001113378.2(FANCI):c.609C>A (p.Ser203=)
|
|
|
|
NM_001113378.2(FANCI):c.624A>G (p.Gln208=)
|
|
|
|
NM_001113378.2(FANCI):c.642C>G (p.Val214=)
|
rs2052830189
|
|
|
NM_001113378.2(FANCI):c.651T>G (p.Leu217=)
|
|
|
|
NM_001113378.2(FANCI):c.654G>A (p.Leu218=)
|
|
|
|
NM_001113378.2(FANCI):c.660C>G (p.Leu220=)
|
|
|
|
NM_001113378.2(FANCI):c.669+15T>C
|
|
|
|
NM_001113378.2(FANCI):c.669+17_669+18del
|
rs751881445
|
|
|
NM_001113378.2(FANCI):c.669+18T>C
|
|
|
|
NM_001113378.2(FANCI):c.669+7A>G
|
|
|
|
NM_001113378.2(FANCI):c.670-11A>G
|
|
|
|
NM_001113378.2(FANCI):c.670-13G>A
|
|
|
|
NM_001113378.2(FANCI):c.670-17T>C
|
|
|
|
NM_001113378.2(FANCI):c.670-18A>G
|
|
|
|
NM_001113378.2(FANCI):c.670-8_670-6del
|
rs747690719
|
|
|
NM_001113378.2(FANCI):c.690G>A (p.Leu230=)
|
|
|
|
NM_001113378.2(FANCI):c.696A>T (p.Gly232=)
|
rs2052856419
|
|
|
NM_001113378.2(FANCI):c.69C>T (p.Thr23=)
|
|
|
|
NM_001113378.2(FANCI):c.70C>T (p.Leu24=)
|
|
|
|
NM_001113378.2(FANCI):c.741A>G (p.Glu247=)
|
rs2151305242
|
|
|
NM_001113378.2(FANCI):c.755+13G>A
|
|
|
|
NM_001113378.2(FANCI):c.755+14T>C
|
|
|
|
NM_001113378.2(FANCI):c.755+16T>C
|
|
|
|
NM_001113378.2(FANCI):c.755+20A>T
|
|
|
|
NM_001113378.2(FANCI):c.756-15T>C
|
|
|
|
NM_001113378.2(FANCI):c.756-4T>G
|
rs1332788738
|
|
|
NM_001113378.2(FANCI):c.756-8T>C
|
|
|
|
NM_001113378.2(FANCI):c.760T>C (p.Leu254=)
|
rs1567148345
|
|
|
NM_001113378.2(FANCI):c.774T>G (p.Thr258=)
|
|
|
|
NM_001113378.2(FANCI):c.777G>A (p.Val259=)
|
|
|
|
NM_001113378.2(FANCI):c.777G>T (p.Val259=)
|
|
|
|
NM_001113378.2(FANCI):c.816T>C (p.Ile272=)
|
rs746104364
|
|
|
NM_001113378.2(FANCI):c.819A>T (p.Leu273=)
|
rs1596258380
|
|
|
NM_001113378.2(FANCI):c.822C>T (p.His274=)
|
rs2053064054
|
|
|
NM_001113378.2(FANCI):c.84+13A>C
|
|
|
|
NM_001113378.2(FANCI):c.84+16C>T
|
rs2052052021
|
|
|
NM_001113378.2(FANCI):c.84+17A>G
|
|
|
|
NM_001113378.2(FANCI):c.84+19G>A
|
rs2151055776
|
|
|
NM_001113378.2(FANCI):c.84+6dup
|
rs1275602094
|
|
|
NM_001113378.2(FANCI):c.84+7A>T
|
rs2151055602
|
|
|
NM_001113378.2(FANCI):c.840A>G (p.Lys280=)
|
|
|
|
NM_001113378.2(FANCI):c.849T>C (p.Tyr283=)
|
|
|
|
NM_001113378.2(FANCI):c.85-10T>C
|
|
|
|
NM_001113378.2(FANCI):c.85-13T>C
|
|
|
|
NM_001113378.2(FANCI):c.85-19C>A
|
|
|
|
NM_001113378.2(FANCI):c.85-19C>G
|
|
|
|
NM_001113378.2(FANCI):c.85-22_85-15del
|
|
|
|
NM_001113378.2(FANCI):c.85-8C>G
|
|
|
|
NM_001113378.2(FANCI):c.85-8_85-5del
|
|
|
|
NM_001113378.2(FANCI):c.85-8_85-7del
|
|
|
|
NM_001113378.2(FANCI):c.855A>T (p.Leu285=)
|
|
|
|
NM_001113378.2(FANCI):c.867C>T (p.Leu289=)
|
|
|
|
NM_001113378.2(FANCI):c.870G>C (p.Val290=)
|
|
|
|
NM_001113378.2(FANCI):c.882+12C>G
|
|
|
|
NM_001113378.2(FANCI):c.882+12C>T
|
|
|
|
NM_001113378.2(FANCI):c.882+15G>A
|
|
|
|
NM_001113378.2(FANCI):c.882+15G>C
|
|
|
|
NM_001113378.2(FANCI):c.882+16T>G
|
|
|
|
NM_001113378.2(FANCI):c.882+18A>G
|
|
|
|
NM_001113378.2(FANCI):c.883-11C>T
|
|
|
|
NM_001113378.2(FANCI):c.883-13T>C
|
|
|
|
NM_001113378.2(FANCI):c.883-7C>T
|
|
|
|
NM_001113378.2(FANCI):c.883-9C>G
|
|
|
|
NM_001113378.2(FANCI):c.885A>G (p.Val295=)
|
rs1159439786
|
|
|
NM_001113378.2(FANCI):c.894A>G (p.Gln298=)
|
|
|
|
NM_001113378.2(FANCI):c.93T>C (p.Asn31=)
|
|
|
|
NM_001113378.2(FANCI):c.960A>G (p.Gln320=)
|
|
|
|
NM_001113378.2(FANCI):c.975+19A>G
|
|
|
|
NM_001113378.2(FANCI):c.975+20T>C
|
|
|
|
NM_001113378.2(FANCI):c.976-13A>C
|
|
|
|
NM_001113378.2(FANCI):c.976-9A>T
|
|
|
|
NM_001113378.2(FANCI):c.996T>G (p.Thr332=)
|
|
|
|
NM_001113525.2(ZNF276):c.*1049G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*1050G>A
|
rs1463777596
|
|
|
NM_001113525.2(ZNF276):c.*1051T>G
|
|
|
|
NM_001113525.2(ZNF276):c.*1052A>G
|
rs2151712130
|
|
|
NM_001113525.2(ZNF276):c.*1057C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1058A>G
|
|
|
|
NM_001113525.2(ZNF276):c.*1059_*1060del
|
|
|
|
NM_001113525.2(ZNF276):c.*1062T>C
|
rs2151712162
|
|
|
NM_001113525.2(ZNF276):c.*1212A>C
|
|
|
|
NM_001113525.2(ZNF276):c.*1212_*1217del
|
|
|
|
NM_001113525.2(ZNF276):c.*1213G>A
|
rs978377623
|
|
|
NM_001113525.2(ZNF276):c.*1215C>A
|
rs1318852669
|
|
|
NM_001113525.2(ZNF276):c.*1216C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1216del
|
|
|
|
NM_001113525.2(ZNF276):c.*1218G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1219T>A
|
|
|
|
NM_001113525.2(ZNF276):c.*1221G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*1221G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1223T>C
|
rs1383806921
|
|
|
NM_001113525.2(ZNF276):c.*1223T>G
|
rs1383806921
|
|
|
NM_001113525.2(ZNF276):c.*1225G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*1314C>T
|
rs2062071481
|
|
|
NM_001113525.2(ZNF276):c.*1316C>G
|
rs9282680
|
|
|
NM_001113525.2(ZNF276):c.*1317C>G
|
rs2062071933
|
|
|
NM_001113525.2(ZNF276):c.*1322_*1323delinsGA
|
rs2151713121
|
|
|
NM_001113525.2(ZNF276):c.*1327C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1728C>T
|
rs2151714503
|
|
|
NM_001113525.2(ZNF276):c.*1731AGC[1]
|
|
|
|
NM_001113525.2(ZNF276):c.*1735G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1736C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1737G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*1737GT[1]
|
rs1491270557
|
|
|
NM_001113525.2(ZNF276):c.*1739G>C
|
rs201323033
|
|
|
NM_001113525.2(ZNF276):c.*1740T>A
|
|
|
|
NM_001113525.2(ZNF276):c.*1741_*1742del
|
rs2151714552
|
|
|
NM_001113525.2(ZNF276):c.*1857T>A
|
rs2151714907
|
|
|
NM_001113525.2(ZNF276):c.*1860A>G
|
|
|
|
NM_001113525.2(ZNF276):c.*1861C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*1862C>A
|
rs776077648
|
|
|
NM_001113525.2(ZNF276):c.*1867G>A
|
rs762916608
|
|
|
NM_001113525.2(ZNF276):c.*1869G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*2515_*2543del
|
|
|
|
NM_001113525.2(ZNF276):c.*2541G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*2542G>A
|
rs900858198
|
|
|
NM_001113525.2(ZNF276):c.*2542G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*2546G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*2546G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*2548T>G
|
|
|
|
NM_001113525.2(ZNF276):c.*2551G>A
|
rs1443117288
|
|
|
NM_001113525.2(ZNF276):c.*2551G>C
|
rs1443117288
|
|
|
NM_001113525.2(ZNF276):c.*2625A>G
|
rs2151716900
|
|
|
NM_001113525.2(ZNF276):c.*2632A>G
|
|
|
|
NM_001113525.2(ZNF276):c.*2633_*2634dup
|
|
|
|
NM_001113525.2(ZNF276):c.*2635G>A
|
rs749085160
|
|
|
NM_001113525.2(ZNF276):c.*2635G>C
|
rs749085160
|
|
|
NM_001113525.2(ZNF276):c.*2636T>A
|
|
|
|
NM_001113525.2(ZNF276):c.*2638C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*2639A>G
|
rs927937594
|
|
|
NM_001113525.2(ZNF276):c.*2640C>A
|
|
|
|
NM_001113525.2(ZNF276):c.*2640_*2642del
|
|
|
|
NM_001113525.2(ZNF276):c.*466T>A
|
rs2062032155
|
|
|
NM_001113525.2(ZNF276):c.*467G>A
|
rs2151710015
|
|
|
NM_001113525.2(ZNF276):c.*468AG[4]
|
rs746081933
|
|
|
NM_001113525.2(ZNF276):c.*470A>G
|
rs372268907
|
|
|
NM_001113525.2(ZNF276):c.*471G>A
|
rs368506826
|
|
|
NM_001113525.2(ZNF276):c.*472A>G
|
rs2151710055
|
|
|
NM_001113525.2(ZNF276):c.*474G>A
|
rs751989527
|
|
|
NM_001113525.2(ZNF276):c.*474G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*478A>G
|
|
|
|
NM_001113525.2(ZNF276):c.*479G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*480G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*482C>A
|
|
|
|
NM_001113525.2(ZNF276):c.*607_*630del
|
rs2151710539
|
|
|
NM_001113525.2(ZNF276):c.*616G>A
|
rs1019949093
|
|
|
NM_001113525.2(ZNF276):c.*617G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*620G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*622C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*623dup
|
|
|
|
NM_001113525.2(ZNF276):c.*627T>C
|
rs2151710610
|
|
|
NM_001113525.2(ZNF276):c.*629A>C
|
|
|
|
NM_001113525.2(ZNF276):c.*732G>A
|
rs775180524
|
|
|
NM_001113525.2(ZNF276):c.*732GA[2]
|
rs2062047195
|
|
|
NM_001113525.2(ZNF276):c.*733A>G
|
rs2151710982
|
|
|
NM_001113525.2(ZNF276):c.*734G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*734G>C
|
|
|
|
NM_001113525.2(ZNF276):c.*736G>C
|
rs1235913738
|
|
|
NM_001113525.2(ZNF276):c.*737A>C
|
rs1235253861
|
|
|
NM_001113525.2(ZNF276):c.*737A>G
|
rs1235253861
|
|
|
NM_001113525.2(ZNF276):c.*738A>G
|
rs2151711012
|
|
|
NM_001113525.2(ZNF276):c.*741C>G
|
|
|
|
NM_001113525.2(ZNF276):c.*742A>G
|
rs2151711032
|
|
|
NM_001113525.2(ZNF276):c.*747A>C
|
|
|
|
NM_001113525.2(ZNF276):c.*814del
|
|
|
|
NM_001113525.2(ZNF276):c.*867G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*868G>T
|
|
|
|
NM_001113525.2(ZNF276):c.*870C>T
|
|
|
|
NM_001113525.2(ZNF276):c.*872G>A
|
|
|
|
NM_001113525.2(ZNF276):c.*875C>T
|
rs2151711547
|
|
|
NM_001113525.2(ZNF276):c.*876C>G
|
|
|
|
NM_001113525.2(ZNF276):c.*879G>C
|
rs772665586
|
|
|
NM_001113525.2(ZNF276):c.*879dup
|
|
|
|
NM_001271938.2(MEGF8):c.1005A>G (p.Ala335=)
|
rs2039124115
|
|
|
NM_001271938.2(MEGF8):c.1014G>A (p.Ala338=)
|
|
|
|
NM_001271938.2(MEGF8):c.1137G>C (p.Val379=)
|
rs1219090266
|
|
|
NM_001271938.2(MEGF8):c.1245-11T>G
|
|
|
|
NM_001271938.2(MEGF8):c.1497G>A (p.Pro499=)
|
|
|
|
NM_001271938.2(MEGF8):c.1557G>A (p.Ala519=)
|
|
|
|
NM_001271938.2(MEGF8):c.1669-8C>T
|
|
|
|
NM_001271938.2(MEGF8):c.1797C>T (p.Ala599=)
|
rs749153853
|
|
|
NM_001271938.2(MEGF8):c.1934-12C>G
|
rs2147465024
|
|
|
NM_001271938.2(MEGF8):c.1934-21_1934-18del
|
rs2039263296
|
|
|
NM_001271938.2(MEGF8):c.2073G>A (p.Pro691=)
|
|
|
|
NM_001271938.2(MEGF8):c.2340G>A (p.Thr780=)
|
rs776196677
|
|
|
NM_001271938.2(MEGF8):c.2355C>A (p.Arg785=)
|
|
|
|
NM_001271938.2(MEGF8):c.246G>T (p.Thr82=)
|
rs369259465
|
|
|
NM_001271938.2(MEGF8):c.2500-10C>T
|
|
|
|
NM_001271938.2(MEGF8):c.261C>T (p.Phe87=)
|
|
|
|
NM_001271938.2(MEGF8):c.2643C>T (p.Cys881=)
|
|
|
|
NM_001271938.2(MEGF8):c.2737-20T>A
|
|
|
|
NM_001271938.2(MEGF8):c.2751G>A (p.Glu917=)
|
|
|
|
NM_001271938.2(MEGF8):c.2796G>T (p.Arg932=)
|
|
|
|
NM_001271938.2(MEGF8):c.282G>C (p.Pro94=)
|
|
|
|
NM_001271938.2(MEGF8):c.2855+12T>C
|
|
|
|
NM_001271938.2(MEGF8):c.291G>T (p.Pro97=)
|
|
|
|
NM_001271938.2(MEGF8):c.2982C>T (p.Asp994=)
|
|
|
|
NM_001271938.2(MEGF8):c.3057C>T (p.His1019=)
|
|
|
|
NM_001271938.2(MEGF8):c.3228T>C (p.Asp1076=)
|
|
|
|
NM_001271938.2(MEGF8):c.3294C>T (p.Tyr1098=)
|
|
|
|
NM_001271938.2(MEGF8):c.3350+12G>A
|
|
|
|
NM_001271938.2(MEGF8):c.3351-11C>T
|
|
|
|
NM_001271938.2(MEGF8):c.3426A>G (p.Thr1142=)
|
|
|
|
NM_001271938.2(MEGF8):c.3498C>T (p.Ser1166=)
|
rs1600051149
|
|
|
NM_001271938.2(MEGF8):c.351+18C>T
|
|
|
|
NM_001271938.2(MEGF8):c.351+20T>C
|
|
|
|
NM_001271938.2(MEGF8):c.352-16C>T
|
|
|
|
NM_001271938.2(MEGF8):c.3588C>T (p.Pro1196=)
|
|
|
|
NM_001271938.2(MEGF8):c.4012-4C>G
|
rs1405166507
|
|
|
NM_001271938.2(MEGF8):c.4074G>A (p.Ser1358=)
|
|
|
|
NM_001271938.2(MEGF8):c.4149G>A (p.Leu1383=)
|
|
|
|
NM_001271938.2(MEGF8):c.4200T>C (p.Ala1400=)
|
|
|
|
NM_001271938.2(MEGF8):c.4212T>G (p.Ser1404=)
|
|
|
|
NM_001271938.2(MEGF8):c.4251C>T (p.Val1417=)
|
|
|
|
NM_001271938.2(MEGF8):c.4275C>T (p.Asp1425=)
|
|
|
|
NM_001271938.2(MEGF8):c.428C>A (p.Pro143Gln)
|
|
|
|
NM_001271938.2(MEGF8):c.4365C>T (p.Ala1455=)
|
|
|
|
NM_001271938.2(MEGF8):c.4393-19G>C
|
|
|
|
NM_001271938.2(MEGF8):c.4407C>T (p.Cys1469=)
|
|
|
|
NM_001271938.2(MEGF8):c.4504-11C>T
|
|
|
|
NM_001271938.2(MEGF8):c.4567T>C (p.Leu1523=)
|
rs2039453501
|
|
|
NM_001271938.2(MEGF8):c.4623-5C>A
|
|
|
|
NM_001271938.2(MEGF8):c.4668C>T (p.Ala1556=)
|
|
|
|
NM_001271938.2(MEGF8):c.4764C>T (p.Thr1588=)
|
|
|
|
NM_001271938.2(MEGF8):c.4831-11C>T
|
|
|
|
NM_001271938.2(MEGF8):c.4968C>T (p.Thr1656=)
|
|
|
|
NM_001271938.2(MEGF8):c.4989C>A (p.Ala1663=)
|
|
|
|
NM_001271938.2(MEGF8):c.5007C>A (p.Pro1669=)
|
rs755932452
|
|
|
NM_001271938.2(MEGF8):c.5025C>T (p.His1675=)
|
rs2147488751
|
|
|
NM_001271938.2(MEGF8):c.5049C>T (p.Thr1683=)
|
|
|
|
NM_001271938.2(MEGF8):c.5100C>A (p.Ala1700=)
|
|
|
|
NM_001271938.2(MEGF8):c.5176-12C>G
|
|
|
|
NM_001271938.2(MEGF8):c.5176-18C>T
|
|
|
|
NM_001271938.2(MEGF8):c.519G>A (p.Glu173=)
|
|
|
|
NM_001271938.2(MEGF8):c.5275A>G (p.Met1759Val)
|
|
|
|
NM_001271938.2(MEGF8):c.5281C>G (p.Leu1761Val)
|
rs150607375
|
|
|
NM_001271938.2(MEGF8):c.5343+16G>A
|
|
|
|
NM_001271938.2(MEGF8):c.5343+17G>A
|
rs2147490241
|
|
|
NM_001271938.2(MEGF8):c.5344-16C>A
|
|
|
|
NM_001271938.2(MEGF8):c.5344-17C>A
|
rs780933404
|
|
|
NM_001271938.2(MEGF8):c.5376G>C (p.Leu1792=)
|
rs2147490712
|
|
|
NM_001271938.2(MEGF8):c.5427C>T (p.Phe1809=)
|
|
|
|
NM_001271938.2(MEGF8):c.5478C>T (p.Pro1826=)
|
|
|
|
NM_001271938.2(MEGF8):c.5555G>A (p.Arg1852His)
|
|
|
|
NM_001271938.2(MEGF8):c.5577C>T (p.Phe1859=)
|
|
|
|
NM_001271938.2(MEGF8):c.559-18_559-17del
|
rs2147448565
|
|
|
NM_001271938.2(MEGF8):c.559-5C>T
|
|
|
|
NM_001271938.2(MEGF8):c.5720+12G>A
|
|
|
|
NM_001271938.2(MEGF8):c.5720+19A>C
|
rs2039524149
|
|
|
NM_001271938.2(MEGF8):c.5733G>A (p.Gly1911=)
|
|
|
|
NM_001271938.2(MEGF8):c.5847G>A (p.Ala1949=)
|
|
|
|
NM_001271938.2(MEGF8):c.6039G>A (p.Thr2013=)
|
|
|
|
NM_001271938.2(MEGF8):c.6058+5G>T
|
|
|
|
NM_001271938.2(MEGF8):c.6081C>T (p.Ser2027=)
|
|
|
|
NM_001271938.2(MEGF8):c.6087G>A (p.Gln2029=)
|
|
|
|
NM_001271938.2(MEGF8):c.6105G>A (p.Thr2035=)
|
|
|
|
NM_001271938.2(MEGF8):c.6163C>T (p.Leu2055=)
|
|
|
|
NM_001271938.2(MEGF8):c.6267G>A (p.Leu2089=)
|
rs934116600
|
|
|
NM_001271938.2(MEGF8):c.6274-18C>T
|
|
|
|
NM_001271938.2(MEGF8):c.6274-7C>G
|
|
|
|
NM_001271938.2(MEGF8):c.6274-7C>T
|
rs772512683
|
|
|
NM_001271938.2(MEGF8):c.6312C>T (p.Ala2104=)
|
|
|
|
NM_001271938.2(MEGF8):c.6381C>T (p.Cys2127=)
|
rs532126083
|
|
|
NM_001271938.2(MEGF8):c.6474C>T (p.Pro2158=)
|
|
|
|
NM_001271938.2(MEGF8):c.648C>T (p.His216=)
|
|
|
|
NM_001271938.2(MEGF8):c.699C>T (p.Gly233=)
|
|
|
|
NM_001271938.2(MEGF8):c.7116C>G (p.Leu2372=)
|
|
|
|
NM_001271938.2(MEGF8):c.7248T>C (p.Arg2416=)
|
|
|
|
NM_001271938.2(MEGF8):c.7270-5C>T
|
|
|
|
NM_001271938.2(MEGF8):c.7296C>T (p.His2432=)
|
|
|
|
NM_001271938.2(MEGF8):c.735C>T (p.Phe245=)
|
|
|
|
NM_001271938.2(MEGF8):c.739+11G>C
|
|
|
|
NM_001271938.2(MEGF8):c.7422C>T (p.Arg2474=)
|
|
|
|
NM_001271938.2(MEGF8):c.7560C>T (p.Gly2520=)
|
|
|
|
NM_001271938.2(MEGF8):c.7590A>G (p.Pro2530=)
|
|
|
|
NM_001271938.2(MEGF8):c.7674G>C (p.Pro2558=)
|
rs774279106
|
|
|
NM_001271938.2(MEGF8):c.771C>T (p.Leu257=)
|
|
|
|
NM_001271938.2(MEGF8):c.7743G>A (p.Thr2581=)
|
|
|
|
NM_001271938.2(MEGF8):c.7758G>A (p.Val2586=)
|
|
|
|
NM_001271938.2(MEGF8):c.7770C>T (p.Arg2590=)
|
|
|
|
NM_001271938.2(MEGF8):c.7854C>T (p.Gly2618=)
|
|
|
|
NM_001271938.2(MEGF8):c.7893C>G (p.Ala2631=)
|
rs150486662
|
|
|
NM_001271938.2(MEGF8):c.7959C>T (p.Ser2653=)
|
|
|
|
NM_001271938.2(MEGF8):c.7968C>T (p.Phe2656=)
|
|
|
|
NM_001271938.2(MEGF8):c.7C>T (p.Leu3=)
|
|
|
|
NM_001271938.2(MEGF8):c.8103C>T (p.Thr2701=)
|
|
|
|
NM_001271938.2(MEGF8):c.8109C>T (p.Cys2703=)
|
|
|
|
NM_001271938.2(MEGF8):c.8466_8467delinsAG (p.Ser2823Gly)
|
rs2039775950
|
|
|
NM_001271938.2(MEGF8):c.8532C>T (p.Ser2844=)
|
|
|
|
NM_001271938.2(MEGF8):c.937C>T (p.Leu313=)
|
|
|
|
NM_001278689.2(EOGT):c.1084-8G>T
|
|
|
|
NM_001278689.2(EOGT):c.1137C>A (p.Ile379=)
|
|
|
|
NM_001278689.2(EOGT):c.1153-17T>G
|
|
|
|
NM_001278689.2(EOGT):c.1158A>G (p.Val386=)
|
|
|
|
NM_001278689.2(EOGT):c.1209G>A (p.Lys403=)
|
rs981266167
|
|
|
NM_001278689.2(EOGT):c.1214+16T>C
|
|
|
|
NM_001278689.2(EOGT):c.1215-18T>G
|
|
|
|
NM_001278689.2(EOGT):c.124T>C (p.Leu42=)
|
|
|
|
NM_001278689.2(EOGT):c.1437+11A>G
|
|
|
|
NM_001278689.2(EOGT):c.1437+15C>G
|
|
|
|
NM_001278689.2(EOGT):c.1446T>C (p.His482=)
|
|
|
|
NM_001278689.2(EOGT):c.1455G>C (p.Leu485=)
|
|
|
|
NM_001278689.2(EOGT):c.1458G>A (p.Gly486=)
|
|
|
|
NM_001278689.2(EOGT):c.1467G>A (p.Pro489=)
|
|
|
|
NM_001278689.2(EOGT):c.210+10A>C
|
rs1410315129
|
|
|
NM_001278689.2(EOGT):c.211-9A>G
|
|
|
|
NM_001278689.2(EOGT):c.252A>G (p.Lys84=)
|
|
|
|
NM_001278689.2(EOGT):c.300C>G (p.Val100=)
|
|
|
|
NM_001278689.2(EOGT):c.311+12del
|
|
|
|
NM_001278689.2(EOGT):c.312-10T>C
|
rs1559615651
|
|
|
NM_001278689.2(EOGT):c.312-20A>G
|
|
|
|
NM_001278689.2(EOGT):c.315G>A (p.Thr105=)
|
|
|
|
NM_001278689.2(EOGT):c.421-16T>A
|
|
|
|
NM_001278689.2(EOGT):c.421-19T>C
|
|
|
|
NM_001278689.2(EOGT):c.421-6C>T
|
|
|
|
NM_001278689.2(EOGT):c.45A>C (p.Ser15=)
|
|
|
|
NM_001278689.2(EOGT):c.471C>A (p.Thr157=)
|
rs560607406
|
|
|
NM_001278689.2(EOGT):c.495C>T (p.Asn165=)
|
|
|
|
NM_001278689.2(EOGT):c.515+17T>C
|
|
|
|
NM_001278689.2(EOGT):c.516-23_516-19del
|
rs373543747
|
|
|
NM_001278689.2(EOGT):c.516-8T>C
|
|
|
|
NM_001278689.2(EOGT):c.585G>A (p.Thr195=)
|
|
|
|
NM_001278689.2(EOGT):c.618A>T (p.Ser206=)
|
rs373952598
|
|
|
NM_001278689.2(EOGT):c.620+16C>T
|
|
|
|
NM_001278689.2(EOGT):c.620+19A>T
|
|
|
|
NM_001278689.2(EOGT):c.621-14A>T
|
|
|
|
NM_001278689.2(EOGT):c.621-14del
|
|
|
|
NM_001278689.2(EOGT):c.663T>A (p.Pro221=)
|
|
|
|
NM_001278689.2(EOGT):c.727+16T>G
|
|
|
|
NM_001278689.2(EOGT):c.728-7A>C
|
|
|
|
NM_001278689.2(EOGT):c.831+19T>A
|
|
|
|
NM_001346754.2(PIGW):c.100C>T (p.Leu34=)
|
rs1599476133
|
|
|
NM_001346754.2(PIGW):c.102G>A (p.Leu34=)
|
|
|
|
NM_001346754.2(PIGW):c.1110T>C (p.Asn370=)
|
rs1203780630
|
|
|
NM_001346754.2(PIGW):c.1178T>C (p.Ile393Thr)
|
|
|
|
NM_001346754.2(PIGW):c.1183T>C (p.Leu395=)
|
rs2074171167
|
|
|
NM_001346754.2(PIGW):c.1185G>A (p.Leu395=)
|
|
|
|
NM_001346754.2(PIGW):c.1194C>T (p.Ala398=)
|
|
|
|
NM_001346754.2(PIGW):c.1284C>A (p.Val428=)
|
|
|
|
NM_001346754.2(PIGW):c.1290A>G (p.Glu430=)
|
|
|
|
NM_001346754.2(PIGW):c.1297A>C (p.Arg433=)
|
rs1240970102
|
|
|
NM_001346754.2(PIGW):c.12G>A (p.Lys4=)
|
|
|
|
NM_001346754.2(PIGW):c.132G>A (p.Gln44=)
|
|
|
|
NM_001346754.2(PIGW):c.1335C>T (p.Asn445=)
|
|
|
|
NM_001346754.2(PIGW):c.1359G>A (p.Leu453=)
|
|
|
|
NM_001346754.2(PIGW):c.1449T>C (p.Tyr483=)
|
|
|
|
NM_001346754.2(PIGW):c.144T>C (p.Ser48=)
|
|
|
|
NM_001346754.2(PIGW):c.1476T>C (p.Tyr492=)
|
|
|
|
NM_001346754.2(PIGW):c.1479A>C (p.Val493=)
|
|
|
|
NM_001346754.2(PIGW):c.147T>C (p.Phe49=)
|
|
|
|
NM_001346754.2(PIGW):c.1482A>G (p.Leu494=)
|
|
|
|
NM_001346754.2(PIGW):c.1514G>A (p.Ter505=)
|
|
|
|
NM_001346754.2(PIGW):c.156C>G (p.Thr52=)
|
|
|
|
NM_001346754.2(PIGW):c.171C>T (p.Phe57=)
|
|
|
|
NM_001346754.2(PIGW):c.190C>T (p.Leu64=)
|
|
|
|
NM_001346754.2(PIGW):c.213T>G (p.Thr71=)
|
rs764647885
|
|
|
NM_001346754.2(PIGW):c.216G>A (p.Leu72=)
|
|
|
|
NM_001346754.2(PIGW):c.222T>C (p.Ile74=)
|
|
|
|
NM_001346754.2(PIGW):c.234T>C (p.Phe78=)
|
rs767714420
|
|
|
NM_001346754.2(PIGW):c.252C>T (p.Leu84=)
|
|
|
|
NM_001346754.2(PIGW):c.294C>T (p.Tyr98=)
|
|
|
|
NM_001346754.2(PIGW):c.360T>C (p.Ser120=)
|
rs1191251061
|
|
|
NM_001346754.2(PIGW):c.537A>G (p.Ala179=)
|
|
|
|
NM_001346754.2(PIGW):c.54C>G (p.Thr18=)
|
rs529378174
|
|
|
NM_001346754.2(PIGW):c.54C>T (p.Thr18=)
|
rs529378174
|
|
|
NM_001346754.2(PIGW):c.58C>T (p.Leu20=)
|
rs1439603716
|
|
|
NM_001346754.2(PIGW):c.600A>G (p.Thr200=)
|
|
|
|
NM_001346754.2(PIGW):c.607T>C (p.Leu203=)
|
|
|
|
NM_001346754.2(PIGW):c.634C>T (p.Leu212=)
|
|
|
|
NM_001346754.2(PIGW):c.684T>C (p.His228=)
|
rs1426728899
|
|
|
NM_001346754.2(PIGW):c.699A>T (p.Gly233=)
|
|
|
|
NM_001346754.2(PIGW):c.723C>A (p.Thr241=)
|
|
|
|
NM_001346754.2(PIGW):c.723C>T (p.Thr241=)
|
|
|
|
NM_001346754.2(PIGW):c.750A>G (p.Pro250=)
|
|
|
|
NM_001346754.2(PIGW):c.759G>A (p.Leu253=)
|
|
|
|
NM_001346754.2(PIGW):c.768T>C (p.Phe256=)
|
|
|
|
NM_001346754.2(PIGW):c.801C>T (p.Gly267=)
|
|
|
|
NM_001346754.2(PIGW):c.810A>G (p.Val270=)
|
|
|
|
NM_001346754.2(PIGW):c.840A>G (p.Ser280=)
|
|
|
|
NM_001346754.2(PIGW):c.841C>T (p.Leu281=)
|
rs2142618552
|
|
|
NM_001346754.2(PIGW):c.849G>A (p.Arg283=)
|
|
|
|
NM_001346754.2(PIGW):c.856T>C (p.Leu286=)
|
rs2074165957
|
|
|
NM_001346754.2(PIGW):c.858A>G (p.Leu286=)
|
rs750915031
|
|
|
NM_001346754.2(PIGW):c.879C>T (p.Gly293=)
|
|
|
|
NM_001346754.2(PIGW):c.885G>C (p.Arg295=)
|
|
|
|
NM_001346754.2(PIGW):c.891T>G (p.Gly297=)
|
|
|
|
NM_001346754.2(PIGW):c.894A>C (p.Leu298=)
|
rs1483319678
|
|
|
NM_001346754.2(PIGW):c.906C>T (p.Asn302=)
|
|
|
|
NM_001346754.2(PIGW):c.924T>C (p.Ser308=)
|
|
|
|
NM_001346754.2(PIGW):c.966A>G (p.Thr322=)
|
rs754169928
|
|
|
NM_001346754.2(PIGW):c.966A>T (p.Thr322=)
|
|
|
|
NM_001346754.2(PIGW):c.980A>G (p.His327Arg)
|
rs528500343
|
|
|
NM_001374353.1(GLI2):c.1059+20A>G
|
|
|
|
NM_001374353.1(GLI2):c.1060-12A>G
|
|
|
|
NM_001374353.1(GLI2):c.1083C>T (p.Ala361=)
|
|
|
|
NM_001374353.1(GLI2):c.1137C>T (p.Thr379=)
|
|
|
|
NM_001374353.1(GLI2):c.1179G>A (p.Thr393=)
|
|
|
|
NM_001374353.1(GLI2):c.1183-4C>T
|
rs1682382173
|
|
|
NM_001374353.1(GLI2):c.1183-65C>T
|
|
|
|
NM_001374353.1(GLI2):c.1318-14T>C
|
|
|
|
NM_001374353.1(GLI2):c.1341C>T (p.His447=)
|
|
|
|
NM_001374353.1(GLI2):c.1428C>T (p.His476=)
|
|
|
|
NM_001374353.1(GLI2):c.1467+9C>T
|
|
|
|
NM_001374353.1(GLI2):c.1468-12G>A
|
|
|
|
NM_001374353.1(GLI2):c.1468-13C>T
|
|
|
|
NM_001374353.1(GLI2):c.1471G>A (p.Glu491Lys)
|
|
|
|
NM_001374353.1(GLI2):c.148+12T>A
|
rs2104697160
|
|
|
NM_001374353.1(GLI2):c.148+20C>T
|
|
|
|
NM_001374353.1(GLI2):c.1560C>T (p.His520=)
|
|
|
|
NM_001374353.1(GLI2):c.1584C>G (p.Ser528=)
|
rs2105064545
|
|
|
NM_001374353.1(GLI2):c.1599C>T (p.Arg533=)
|
|
|
|
NM_001374353.1(GLI2):c.1633-14G>T
|
|
|
|
NM_001374353.1(GLI2):c.1731C>T (p.His577=)
|
|
|
|
NM_001374353.1(GLI2):c.1833C>T (p.Thr611=)
|
|
|
|
NM_001374353.1(GLI2):c.1899C>T (p.Ser633=)
|
|
|
|
NM_001374353.1(GLI2):c.1902C>T (p.Ser634=)
|
|
|
|
NM_001374353.1(GLI2):c.1905+12T>C
|
|
|
|
NM_001374353.1(GLI2):c.1923C>G (p.Pro641=)
|
|
|
|
NM_001374353.1(GLI2):c.1929C>T (p.Ala643=)
|
rs1682970189
|
|
|
NM_001374353.1(GLI2):c.1932G>A (p.Gln644=)
|
|
|
|
NM_001374353.1(GLI2):c.2064C>T (p.Asp688=)
|
|
|
|
NM_001374353.1(GLI2):c.2196G>A (p.Pro732=)
|
|
|
|
NM_001374353.1(GLI2):c.2209C>A (p.Arg737=)
|
rs138932004
|
|
|
NM_001374353.1(GLI2):c.2242+18G>T
|
|
|
|
NM_001374353.1(GLI2):c.2403C>T (p.Thr801=)
|
rs1440441101
|
|
|
NM_001374353.1(GLI2):c.2466G>A (p.Ser822=)
|
|
|
|
NM_001374353.1(GLI2):c.2481C>G (p.Gly827=)
|
|
|
|
NM_001374353.1(GLI2):c.2577C>T (p.Ser859=)
|
|
|
|
NM_001374353.1(GLI2):c.2580G>A (p.Gly860=)
|
|
|
|
NM_001374353.1(GLI2):c.2589C>A (p.Asn863Lys)
|
|
|
|
NM_001374353.1(GLI2):c.258C>T (p.Pro86=)
|
|
|
|
NM_001374353.1(GLI2):c.2617C>A (p.Arg873=)
|
|
|
|
NM_001374353.1(GLI2):c.2631G>C (p.Ala877=)
|
|
|
|
NM_001374353.1(GLI2):c.2652G>T (p.Pro884=)
|
rs926908365
|
|
|
NM_001374353.1(GLI2):c.2715G>T (p.Ala905=)
|
|
|
|
NM_001374353.1(GLI2):c.2748C>T (p.Arg916=)
|
|
|
|
NM_001374353.1(GLI2):c.2751A>C (p.Pro917=)
|
|
|
|
NM_001374353.1(GLI2):c.2877C>T (p.Pro959=)
|
|
|
|
NM_001374353.1(GLI2):c.2883C>G (p.Ala961=)
|
|
|
|
NM_001374353.1(GLI2):c.2949C>T (p.Pro983=)
|
|
|
|
NM_001374353.1(GLI2):c.2982C>T (p.Ser994=)
|
|
|
|
NM_001374353.1(GLI2):c.3015C>T (p.Gly1005=)
|
|
|
|
NM_001374353.1(GLI2):c.3072G>C (p.Ala1024=)
|
|
|
|
NM_001374353.1(GLI2):c.3084C>T (p.Asp1028=)
|
|
|
|
NM_001374353.1(GLI2):c.3090G>A (p.Ala1030=)
|
rs749578390
|
|
|
NM_001374353.1(GLI2):c.3117G>A (p.Pro1039=)
|
|
|
|
NM_001374353.1(GLI2):c.3195C>T (p.Thr1065=)
|
|
|
|
NM_001374353.1(GLI2):c.3255G>A (p.Pro1085=)
|
|
|
|
NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=)
|
rs141988240
|
|
|
NM_001374353.1(GLI2):c.3423C>A (p.Ala1141=)
|
|
|
|
NM_001374353.1(GLI2):c.3465G>A (p.Ala1155=)
|
rs141356812
|
|
|
NM_001374353.1(GLI2):c.3468G>T (p.Val1156=)
|
|
|
|
NM_001374353.1(GLI2):c.3501G>A (p.Pro1167=)
|
|
|
|
NM_001374353.1(GLI2):c.3504C>T (p.Gly1168=)
|
|
|
|
NM_001374353.1(GLI2):c.3585C>T (p.Pro1195=)
|
|
|
|
NM_001374353.1(GLI2):c.3603G>A (p.Arg1201=)
|
rs2105093446
|
|
|
NM_001374353.1(GLI2):c.3612C>T (p.Tyr1204=)
|
|
|
|
NM_001374353.1(GLI2):c.3624G>T (p.Leu1208=)
|
|
|
|
NM_001374353.1(GLI2):c.3699C>T (p.Val1233=)
|
rs1195795024
|
|
|
NM_001374353.1(GLI2):c.3732G>T (p.Gly1244=)
|
|
|
|
NM_001374353.1(GLI2):c.3841C>T (p.Arg1281Cys)
|
|
|
|
NM_001374353.1(GLI2):c.3879T>C (p.Ala1293=)
|
|
|
|
NM_001374353.1(GLI2):c.3951G>A (p.Gln1317=)
|
|
|
|
NM_001374353.1(GLI2):c.4023G>A (p.Pro1341=)
|
|
|
|
NM_001374353.1(GLI2):c.4074C>T (p.Leu1358=)
|
|
|
|
NM_001374353.1(GLI2):c.4110T>G (p.Arg1370=)
|
|
|
|
NM_001374353.1(GLI2):c.4254C>T (p.Asp1418=)
|
|
|
|
NM_001374353.1(GLI2):c.4258G>A (p.Gly1420Ser)
|
rs149163880
|
|
|
NM_001374353.1(GLI2):c.4269G>A (p.Pro1423=)
|
|
|
|
NM_001374353.1(GLI2):c.4327C>T (p.Leu1443=)
|
|
|
|
NM_001374353.1(GLI2):c.4338C>T (p.Leu1446=)
|
|
|
|
NM_001374353.1(GLI2):c.4404C>G (p.Pro1468=)
|
|
|
|
NM_001374353.1(GLI2):c.4509T>C (p.Asp1503=)
|
|
|
|
NM_001374353.1(GLI2):c.4515G>A (p.Ser1505=)
|
|
|
|
NM_001374353.1(GLI2):c.4560C>A (p.Leu1520=)
|
rs1335405295
|
|
|
NM_001374353.1(GLI2):c.4560C>T (p.Leu1520=)
|
|
|
|
NM_001374353.1(GLI2):c.4620C>T (p.Pro1540=)
|
|
|
|
NM_001374353.1(GLI2):c.4644C>T (p.Val1548=)
|
|
|
|
NM_001374353.1(GLI2):c.564G>A (p.Ala188=)
|
|
|
|
NM_001374353.1(GLI2):c.621C>T (p.His207=)
|
|
|
|
NM_001374353.1(GLI2):c.643+15_643+16delinsTG
|
rs2104965814
|
|
|
NM_001374353.1(GLI2):c.643+16C>A
|
|
|
|
NM_001374353.1(GLI2):c.644-11C>T
|
|
|
|
NM_001374353.1(GLI2):c.654C>T (p.Phe218=)
|
|
|
|
NM_001374353.1(GLI2):c.693G>A (p.Arg231=)
|
|
|
|
NM_001374353.1(GLI2):c.75C>T (p.Phe25=)
|
|
|
|
NM_001374353.1(GLI2):c.804G>A (p.Ala268=)
|
|
|
|
NM_001374353.1(GLI2):c.845+17A>G
|
|
|
|
NM_001374353.1(GLI2):c.861C>T (p.Phe287=)
|
rs2105019550
|
|
|
NM_001374353.1(GLI2):c.945C>T (p.Pro315=)
|
|
|
|
NM_001429.4(EP300):c.1128A>G (p.Leu376=)
|
|
|
|
NM_001429.4(EP300):c.1169-11C>G
|
|
|
|
NM_001429.4(EP300):c.1169-11C>T
|
|
|
|
NM_001429.4(EP300):c.1169-12T>C
|
|
|
|
NM_001429.4(EP300):c.1169-19T>A
|
|
|
|
NM_001429.4(EP300):c.1169-4T>C
|
|
|
|
NM_001429.4(EP300):c.1283-14T>C
|
|
|
|
NM_001429.4(EP300):c.1283-20A>G
|
|
|
|
NM_001429.4(EP300):c.1293T>C (p.Thr431=)
|
|
|
|
NM_001429.4(EP300):c.1308A>G (p.Gly436=)
|
|
|
|
NM_001429.4(EP300):c.1334T>A (p.Val445Glu)
|
|
|
|
NM_001429.4(EP300):c.1351C>G (p.Pro451Ala)
|
rs151308825
|
|
|
NM_001429.4(EP300):c.1355A>G (p.Asn452Ser)
|
|
|
|
NM_001429.4(EP300):c.1366G>A (p.Val456Ile)
|
|
|
|
NM_001429.4(EP300):c.1467G>T (p.Lys489Asn)
|
|
|
|
NM_001429.4(EP300):c.1528+17C>G
|
|
|
|
NM_001429.4(EP300):c.1529-12A>G
|
|
|
|
NM_001429.4(EP300):c.1529-19T>G
|
|
|
|
NM_001429.4(EP300):c.1541T>C (p.Met514Thr)
|
rs758573292
|
|
|
NM_001429.4(EP300):c.1585T>C (p.Ser529Pro)
|
|
|
|
NM_001429.4(EP300):c.1622+10A>T
|
|
|
|
NM_001429.4(EP300):c.1635T>A (p.Ser545Arg)
|
|
|
|
NM_001429.4(EP300):c.1666A>G (p.Met556Val)
|
|
|
|
NM_001429.4(EP300):c.1671A>G (p.Pro557=)
|
|
|
|
NM_001429.4(EP300):c.1683A>G (p.Gln561=)
|
|
|
|
NM_001429.4(EP300):c.1686A>G (p.Pro562=)
|
|
|
|
NM_001429.4(EP300):c.1760+11T>C
|
|
|
|
NM_001429.4(EP300):c.1761-10C>G
|
|
|
|
NM_001429.4(EP300):c.1761-16G>A
|
|
|
|
NM_001429.4(EP300):c.1839G>A (p.Arg613=)
|
|
|
|
NM_001429.4(EP300):c.2034G>A (p.Pro678=)
|
|
|
|
NM_001429.4(EP300):c.2053+17A>G
|
|
|
|
NM_001429.4(EP300):c.2053+8_2053+11del
|
|
|
|
NM_001429.4(EP300):c.2054-16C>T
|
|
|
|
NM_001429.4(EP300):c.2054-19T>C
|
|
|
|
NM_001429.4(EP300):c.2067T>C (p.Pro689=)
|
|
|
|
NM_001429.4(EP300):c.2093T>C (p.Val698Ala)
|
|
|
|
NM_001429.4(EP300):c.2132-11C>G
|
|
|
|
NM_001429.4(EP300):c.2132-15T>C
|
|
|
|
NM_001429.4(EP300):c.2132-8A>T
|
|
|
|
NM_001429.4(EP300):c.2183G>A (p.Arg728Gln)
|
|
|
|
NM_001429.4(EP300):c.2184G>A (p.Arg728=)
|
|
|
|
NM_001429.4(EP300):c.2184G>T (p.Arg728=)
|
|
|
|
NM_001429.4(EP300):c.2242-15T>G
|
|
|
|
NM_001429.4(EP300):c.2242-17T>G
|
|
|
|
NM_001429.4(EP300):c.2242-7T>C
|
|
|
|
NM_001429.4(EP300):c.2285G>A (p.Gly762Asp)
|
|
|
|
NM_001429.4(EP300):c.2380-19_2380-15del
|
|
|
|
NM_001429.4(EP300):c.2534C>T (p.Thr845Ile)
|
|
|
|
NM_001429.4(EP300):c.2550G>T (p.Gly850=)
|
|
|
|
NM_001429.4(EP300):c.2598T>A (p.Pro866=)
|
|
|
|
NM_001429.4(EP300):c.2632C>T (p.Leu878=)
|
|
|
|
NM_001429.4(EP300):c.2636A>C (p.His879Pro)
|
|
|
|
NM_001429.4(EP300):c.2690T>C (p.Val897Ala)
|
|
|
|
NM_001429.4(EP300):c.2730C>T (p.Pro910=)
|
|
|
|
NM_001429.4(EP300):c.2757C>T (p.Ser919=)
|
|
|
|
NM_001429.4(EP300):c.2802G>T (p.Pro934=)
|
|
|
|
NM_001429.4(EP300):c.2805G>A (p.Gln935=)
|
|
|
|
NM_001429.4(EP300):c.2818-18C>T
|
|
|
|
NM_001429.4(EP300):c.2818-19C>A
|
|
|
|
NM_001429.4(EP300):c.2818-20T>G
|
|
|
|
NM_001429.4(EP300):c.2818-5C>T
|
|
|
|
NM_001429.4(EP300):c.2818-8C>G
|
|
|
|
NM_001429.4(EP300):c.2829A>G (p.Pro943=)
|
|
|
|
NM_001429.4(EP300):c.2868T>C (p.Ser956=)
|
|
|
|
NM_001429.4(EP300):c.2876G>T (p.Ser959Ile)
|
rs1308182502
|
|
|
NM_001429.4(EP300):c.2898C>T (p.Ala966=)
|
|
|
|
NM_001429.4(EP300):c.2917T>G (p.Ser973Ala)
|
|
|
|
NM_001429.4(EP300):c.2940C>T (p.Ala980=)
|
|
|
|
NM_001429.4(EP300):c.2974A>G (p.Thr992Ala)
|
|
|
|
NM_001429.4(EP300):c.2997+10G>A
|
|
|
|
NM_001429.4(EP300):c.2997+14A>G
|
|
|
|
NM_001429.4(EP300):c.2998-13C>T
|
|
|
|
NM_001429.4(EP300):c.2998-3del
|
rs528974321
|
|
|
NM_001429.4(EP300):c.3123A>G (p.Pro1041=)
|
|
|
|
NM_001429.4(EP300):c.3138A>G (p.Lys1046=)
|
|
|
|
NM_001429.4(EP300):c.3142+17A>T
|
|
|
|
NM_001429.4(EP300):c.3142+20C>T
|
|
|
|
NM_001429.4(EP300):c.3142+8T>C
|
|
|
|
NM_001429.4(EP300):c.3143-12T>C
|
|
|
|
NM_001429.4(EP300):c.3143-15C>A
|
|
|
|
NM_001429.4(EP300):c.3216C>T (p.Ser1072=)
|
|
|
|
NM_001429.4(EP300):c.3258C>A (p.Ile1086=)
|
|
|
|
NM_001429.4(EP300):c.3261+11G>A
|
|
|
|
NM_001429.4(EP300):c.3261+14G>A
|
|
|
|
NM_001429.4(EP300):c.3261+8T>G
|
|
|
|
NM_001429.4(EP300):c.3352G>A (p.Val1118Ile)
|
|
|
|
NM_001429.4(EP300):c.3357T>C (p.Asp1119=)
|
|
|
|
NM_001429.4(EP300):c.338C>T (p.Pro113Leu)
|
|
|
|
NM_001429.4(EP300):c.3410G>A (p.Arg1137Gln)
|
|
|
|
NM_001429.4(EP300):c.3417C>T (p.Tyr1139=)
|
rs952398016
|
|
|
NM_001429.4(EP300):c.342A>G (p.Gly114=)
|
|
|
|
NM_001429.4(EP300):c.346G>A (p.Gly116Ser)
|
|
|
|
NM_001429.4(EP300):c.3534C>T (p.Tyr1178=)
|
|
|
|
NM_001429.4(EP300):c.3624C>A (p.Ile1208=)
|
rs143660871
|
|
|
NM_001429.4(EP300):c.3624C>T (p.Ile1208=)
|
rs143660871
|
|
|
NM_001429.4(EP300):c.3659C>G (p.Ser1220Cys)
|
|
|
|
NM_001429.4(EP300):c.3671+16A>C
|
|
|
|
NM_001429.4(EP300):c.3671+5_3671+7dup
|
|
|
|
NM_001429.4(EP300):c.3675A>G (p.Thr1225=)
|
|
|
|
NM_001429.4(EP300):c.3711C>T (p.Asp1237=)
|
|
|
|
NM_001429.4(EP300):c.3728+13C>T
|
|
|
|
NM_001429.4(EP300):c.3728+8C>T
|
|
|
|
NM_001429.4(EP300):c.3728+9G>A
|
|
|
|
NM_001429.4(EP300):c.3729-6T>C
|
|
|
|
NM_001429.4(EP300):c.3729-8T>C
|
|
|
|
NM_001429.4(EP300):c.3802G>T (p.Ala1268Ser)
|
|
|
|
NM_001429.4(EP300):c.3806+11A>G
|
|
|
|
NM_001429.4(EP300):c.3806+12C>T
|
|
|
|
NM_001429.4(EP300):c.3806+13G>A
|
|
|
|
NM_001429.4(EP300):c.3807-12G>A
|
|
|
|
NM_001429.4(EP300):c.3807-7C>T
|
|
|
|
NM_001429.4(EP300):c.3810C>T (p.Phe1270=)
|
|
|
|
NM_001429.4(EP300):c.3819T>C (p.Asp1273=)
|
|
|
|
NM_001429.4(EP300):c.3874+13C>T
|
|
|
|
NM_001429.4(EP300):c.3875-19_3875-18del
|
|
|
|
NM_001429.4(EP300):c.4005A>G (p.Val1335=)
|
rs1462493430
|
|
|
NM_001429.4(EP300):c.4025+12T>A
|
|
|
|
NM_001429.4(EP300):c.4026-11C>T
|
|
|
|
NM_001429.4(EP300):c.4026-12T>G
|
|
|
|
NM_001429.4(EP300):c.4065C>T (p.Tyr1355=)
|
|
|
|
NM_001429.4(EP300):c.4149T>C (p.Ser1383=)
|
|
|
|
NM_001429.4(EP300):c.4155C>T (p.Cys1385=)
|
|
|
|
NM_001429.4(EP300):c.4172+11C>T
|
|
|
|
NM_001429.4(EP300):c.4172+16A>C
|
|
|
|
NM_001429.4(EP300):c.4172+7C>T
|
|
|
|
NM_001429.4(EP300):c.4173-15C>G
|
|
|
|
NM_001429.4(EP300):c.4173-17C>A
|
|
|
|
NM_001429.4(EP300):c.4173-4A>G
|
|
|
|
NM_001429.4(EP300):c.4221A>G (p.Lys1407=)
|
|
|
|
NM_001429.4(EP300):c.4287-20C>G
|
|
|
|
NM_001429.4(EP300):c.4353T>C (p.His1451=)
|
|
|
|
NM_001429.4(EP300):c.4377G>A (p.Lys1459=)
|
|
|
|
NM_001429.4(EP300):c.442A>G (p.Thr148Ala)
|
|
|
|
NM_001429.4(EP300):c.4452+18G>A
|
rs548353389
|
|
|
NM_001429.4(EP300):c.4453-6T>C
|
|
|
|
NM_001429.4(EP300):c.4512C>T (p.Phe1504=)
|
|
|
|
NM_001429.4(EP300):c.457A>G (p.Met153Val)
|
|
|
|
NM_001429.4(EP300):c.458T>C (p.Met153Thr)
|
|
|
|
NM_001429.4(EP300):c.4611C>A (p.Ser1537Arg)
|
|
|
|
NM_001429.4(EP300):c.4617+10T>C
|
|
|
|
NM_001429.4(EP300):c.4617+13A>G
|
|
|
|
NM_001429.4(EP300):c.4617+17dup
|
|
|
|
NM_001429.4(EP300):c.4617+9A>C
|
|
|
|
NM_001429.4(EP300):c.4618-19C>T
|
|
|
|
NM_001429.4(EP300):c.4618-9A>G
|
|
|
|
NM_001429.4(EP300):c.4668C>T (p.Thr1556=)
|
|
|
|
NM_001429.4(EP300):c.4740C>T (p.Leu1580=)
|
|
|
|
NM_001429.4(EP300):c.4780-11_4780-8del
|
rs748277415
|
|
|
NM_001429.4(EP300):c.4780-12T>A
|
|
|
|
NM_001429.4(EP300):c.4780-14T>G
|
|
|
|
NM_001429.4(EP300):c.4780-21_4780-18del
|
rs2059199595
|
|
|
NM_001429.4(EP300):c.4817C>T (p.Ala1606Val)
|
|
|
|
NM_001429.4(EP300):c.4824C>G (p.Ser1608=)
|
rs199994113
|
|
|
NM_001429.4(EP300):c.4828C>T (p.Pro1610Ser)
|
|
|
|
NM_001429.4(EP300):c.4845T>G (p.Pro1615=)
|
|
|
|
NM_001429.4(EP300):c.4887G>A (p.Ala1629=)
|
|
|
|
NM_001429.4(EP300):c.4971G>A (p.Glu1657=)
|
|
|
|
NM_001429.4(EP300):c.498C>T (p.Asn166=)
|
rs2058828603
|
|
|
NM_001429.4(EP300):c.5007C>G (p.Thr1669=)
|
|
|
|
NM_001429.4(EP300):c.5062-15C>T
|
|
|
|
NM_001429.4(EP300):c.5062-18C>T
|
|
|
|
NM_001429.4(EP300):c.5062-5C>T
|
rs1601639609
|
|
|
NM_001429.4(EP300):c.5076T>C (p.Cys1692=)
|
|
|
|
NM_001429.4(EP300):c.5088T>C (p.Tyr1696=)
|
|
|
|
NM_001429.4(EP300):c.5100C>T (p.Asn1700=)
|
|
|
|
NM_001429.4(EP300):c.5122C>T (p.Leu1708=)
|
|
|
|
NM_001429.4(EP300):c.5154C>T (p.Asn1718=)
|
|
|
|
NM_001429.4(EP300):c.5169C>T (p.Ala1723=)
|
|
|
|
NM_001429.4(EP300):c.5268A>G (p.Pro1756=)
|
|
|
|
NM_001429.4(EP300):c.5313C>T (p.Cys1771=)
|
|
|
|
NM_001429.4(EP300):c.5331C>G (p.Gly1777=)
|
|
|
|
NM_001429.4(EP300):c.5331C>T (p.Gly1777=)
|
|
|
|
NM_001429.4(EP300):c.5388C>T (p.Cys1796=)
|
|
|
|
NM_001429.4(EP300):c.5412G>A (p.Pro1804=)
|
|
|
|
NM_001429.4(EP300):c.5442G>A (p.Arg1814=)
|
|
|
|
NM_001429.4(EP300):c.546T>C (p.Asn182=)
|
|
|
|
NM_001429.4(EP300):c.5510G>A (p.Arg1837Gln)
|
rs755471385
|
|
|
NM_001429.4(EP300):c.5547C>T (p.Ser1849=)
|
|
|
|
NM_001429.4(EP300):c.5550C>G (p.Pro1850=)
|
|
|
|
NM_001429.4(EP300):c.5567C>T (p.Thr1856Met)
|
|
|
|
NM_001429.4(EP300):c.5597C>T (p.Pro1866Leu)
|
|
|
|
NM_001429.4(EP300):c.5664C>G (p.Pro1888=)
|
|
|
|
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser)
|
rs146165770
|
|
|
NM_001429.4(EP300):c.5838A>G (p.Gln1946=)
|
|
|
|
NM_001429.4(EP300):c.5854A>G (p.Ile1952Val)
|
|
|
|
NM_001429.4(EP300):c.5874G>A (p.Pro1958=)
|
|
|
|
NM_001429.4(EP300):c.5934G>A (p.Gly1978=)
|
|
|
|
NM_001429.4(EP300):c.5957C>A (p.Pro1986Gln)
|
|
|
|
NM_001429.4(EP300):c.5958G>A (p.Pro1986=)
|
|
|
|
NM_001429.4(EP300):c.5979A>G (p.Pro1993=)
|
|
|
|
NM_001429.4(EP300):c.6015A>G (p.Gln2005=)
|
|
|
|
NM_001429.4(EP300):c.6105G>A (p.Gln2035=)
|
|
|
|
NM_001429.4(EP300):c.6128C>A (p.Pro2043Gln)
|
|
|
|
NM_001429.4(EP300):c.613A>G (p.Met205Val)
|
|
|
|
NM_001429.4(EP300):c.6144A>G (p.Gln2048=)
|
|
|
|
NM_001429.4(EP300):c.6165G>A (p.Leu2055=)
|
|
|
|
NM_001429.4(EP300):c.6166C>T (p.Arg2056Trp)
|
|
|
|
NM_001429.4(EP300):c.6183C>T (p.Pro2061=)
|
rs2059211875
|
|
|
NM_001429.4(EP300):c.6193C>T (p.Leu2065=)
|
|
|
|
NM_001429.4(EP300):c.6195G>A (p.Leu2065=)
|
|
|
|
NM_001429.4(EP300):c.6240G>C (p.Leu2080=)
|
|
|
|
NM_001429.4(EP300):c.6262C>T (p.Arg2088Trp)
|
rs201569846
|
|
|
NM_001429.4(EP300):c.6279C>T (p.Ala2093=)
|
|
|
|
NM_001429.4(EP300):c.6414G>T (p.Ala2138=)
|
rs374679651
|
|
|
NM_001429.4(EP300):c.6444G>A (p.Gln2148=)
|
|
|
|
NM_001429.4(EP300):c.6468A>C (p.Pro2156=)
|
|
|
|
NM_001429.4(EP300):c.6489C>G (p.Pro2163=)
|
|
|
|
NM_001429.4(EP300):c.6494C>T (p.Ala2165Val)
|
|
|
|
NM_001429.4(EP300):c.6504G>A (p.Met2168Ile)
|
rs566357328
|
|
|
NM_001429.4(EP300):c.6539G>A (p.Arg2180Gln)
|
|
|
|
NM_001429.4(EP300):c.6546C>A (p.Ile2182=)
|
|
|
|
NM_001429.4(EP300):c.6561A>G (p.Gln2187=)
|
|
|
|
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del)
|
rs875989807
|
|
|
NM_001429.4(EP300):c.6594G>A (p.Gly2198=)
|
|
|
|
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys)
|
rs587778256
|
|
|
NM_001429.4(EP300):c.6642C>G (p.Pro2214=)
|
|
|
|
NM_001429.4(EP300):c.6657C>T (p.Tyr2219=)
|
rs2145521664
|
|
|
NM_001429.4(EP300):c.667C>G (p.Leu223Val)
|
rs746720991
|
|
|
NM_001429.4(EP300):c.6681G>A (p.Met2227Ile)
|
|
|
|
NM_001429.4(EP300):c.6712A>G (p.Asn2238Asp)
|
|
|
|
NM_001429.4(EP300):c.6716T>C (p.Met2239Thr)
|
|
|
|
NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr)
|
|
|
|
NM_001429.4(EP300):c.6801A>G (p.Gln2267=)
|
|
|
|
NM_001429.4(EP300):c.680C>T (p.Ser227Phe)
|
|
|
|
NM_001429.4(EP300):c.6840C>T (p.Pro2280=)
|
|
|
|
NM_001429.4(EP300):c.6888C>T (p.Gly2296=)
|
|
|
|
NM_001429.4(EP300):c.6907C>G (p.Leu2303Val)
|
rs144787962
|
|
|
NM_001429.4(EP300):c.6914A>G (p.Asn2305Ser)
|
|
|
|
NM_001429.4(EP300):c.6920T>G (p.Val2307Gly)
|
|
|
|
NM_001429.4(EP300):c.6958T>C (p.Ser2320Pro)
|
|
|
|
NM_001429.4(EP300):c.695G>C (p.Gly232Ala)
|
rs1261612920
|
|
|
NM_001429.4(EP300):c.6970C>A (p.His2324Asn)
|
|
|
|
NM_001429.4(EP300):c.6975C>T (p.Ser2325=)
|
|
|
|
NM_001429.4(EP300):c.6984C>A (p.Ser2328=)
|
rs200478275
|
|
|
NM_001429.4(EP300):c.7070A>G (p.Asn2357Ser)
|
rs147304540
|
|
|
NM_001429.4(EP300):c.7094C>T (p.Ala2365Val)
|
|
|
|
NM_001429.4(EP300):c.7098C>T (p.Ser2366=)
|
|
|
|
NM_001429.4(EP300):c.7134C>T (p.Ser2378=)
|
|
|
|
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser)
|
rs886057571
|
|
|
NM_001429.4(EP300):c.7163C>T (p.Ala2388Val)
|
|
|
|
NM_001429.4(EP300):c.7173G>A (p.Thr2391=)
|
|
|
|
NM_001429.4(EP300):c.7182A>G (p.Gly2394=)
|
|
|
|
NM_001429.4(EP300):c.7221A>G (p.Ser2407=)
|
rs964396023
|
|
|
NM_001429.4(EP300):c.7230A>G (p.Thr2410=)
|
|
|
|
NM_001429.4(EP300):c.7242C>T (p.His2414=)
|
rs1329691393
|
|
|
NM_001429.4(EP300):c.729+19T>C
|
|
|
|
NM_001429.4(EP300):c.729+8C>T
|
|
|
|
NM_001429.4(EP300):c.730-10T>A
|
|
|
|
NM_001429.4(EP300):c.730-20C>T
|
|
|
|
NM_001429.4(EP300):c.730-5C>T
|
|
|
|
NM_001429.4(EP300):c.730-7_730-2del
|
rs762256767
|
|
|
NM_001429.4(EP300):c.757T>C (p.Tyr253His)
|
|
|
|
NM_001429.4(EP300):c.759T>C (p.Tyr253=)
|
|
|
|
NM_001429.4(EP300):c.75G>A (p.Ala25=)
|
|
|
|
NM_001429.4(EP300):c.770A>G (p.Tyr257Cys)
|
|
|
|
NM_001429.4(EP300):c.772A>G (p.Thr258Ala)
|
|
|
|
NM_001429.4(EP300):c.839T>C (p.Leu280Pro)
|
|
|
|
NM_001429.4(EP300):c.864T>C (p.Ala288=)
|
|
|
|
NM_001429.4(EP300):c.907-14G>A
|
|
|
|
NM_001429.4(EP300):c.94+10G>A
|
|
|
|
NM_001429.4(EP300):c.94+12C>T
|
|
|
|
NM_001429.4(EP300):c.94+17C>T
|
|
|
|
NM_001429.4(EP300):c.94+18_94+19insTC
|
|
|
|
NM_001429.4(EP300):c.94+19G>A
|
|
|
|
NM_001429.4(EP300):c.95-9T>C
|
|
|
|
NM_001429.4(EP300):c.960C>T (p.Ala320=)
|
|
|
|
NM_001429.4(EP300):c.984T>C (p.His328=)
|
|
|
|
NM_001999.4(FBN2):c.1014G>A (p.Val338=)
|
|
|
|
NM_001999.4(FBN2):c.1018A>G (p.Ser340Gly)
|
|
|
|
NM_001999.4(FBN2):c.1019G>A (p.Ser340Asn)
|
|
|
|
NM_001999.4(FBN2):c.102G>A (p.Pro34=)
|
|
|
|
NM_001999.4(FBN2):c.1053C>T (p.Thr351=)
|
rs1554067080
|
|
|
NM_001999.4(FBN2):c.1078+10G>A
|
|
|
|
NM_001999.4(FBN2):c.1078+9C>G
|
rs371692018
|
|
|
NM_001999.4(FBN2):c.1079-9C>T
|
|
|
|
NM_001999.4(FBN2):c.1119C>A (p.Gly373=)
|
rs1554066145
|
|
|
NM_001999.4(FBN2):c.111G>C (p.Pro37=)
|
|
|
|
NM_001999.4(FBN2):c.1121G>A (p.Arg374His)
|
|
|
|
NM_001999.4(FBN2):c.115C>A (p.Arg39=)
|
rs763202121
|
|
|
NM_001999.4(FBN2):c.117G>T (p.Arg39=)
|
|
|
|
NM_001999.4(FBN2):c.120C>T (p.Pro40=)
|
|
|
|
NM_001999.4(FBN2):c.1231+12G>A
|
|
|
|
NM_001999.4(FBN2):c.1231+15G>A
|
|
|
|
NM_001999.4(FBN2):c.1231+19G>A
|
|
|
|
NM_001999.4(FBN2):c.1232-6T>C
|
rs1581260490
|
|
|
NM_001999.4(FBN2):c.1232-8T>C
|
|
|
|
NM_001999.4(FBN2):c.1236A>G (p.Glu412=)
|
|
|
|
NM_001999.4(FBN2):c.1241G>A (p.Arg414His)
|
|
|
|
NM_001999.4(FBN2):c.1275A>T (p.Gly425=)
|
|
|
|
NM_001999.4(FBN2):c.1281A>G (p.Pro427=)
|
|
|
|
NM_001999.4(FBN2):c.1295C>A (p.Ser432Tyr)
|
|
|
|
NM_001999.4(FBN2):c.132G>A (p.Pro44=)
|
rs199702573
|
|
|
NM_001999.4(FBN2):c.132G>T (p.Pro44=)
|
|
|
|
NM_001999.4(FBN2):c.135A>G (p.Gln45=)
|
rs1182394348
|
|
|
NM_001999.4(FBN2):c.1380C>T (p.Pro460=)
|
|
|
|
NM_001999.4(FBN2):c.1386T>C (p.Pro462=)
|
rs778468050
|
|
|
NM_001999.4(FBN2):c.1398C>T (p.Gly466=)
|
rs1554066010
|
|
|
NM_001999.4(FBN2):c.1411G>C (p.Val471Leu)
|
rs138046782
|
|
|
NM_001999.4(FBN2):c.1437G>A (p.Gly479=)
|
|
|
|
NM_001999.4(FBN2):c.1438G>A (p.Gly480Arg)
|
|
|
|
NM_001999.4(FBN2):c.1443G>A (p.Gln481=)
|
rs923812426
|
|
|
NM_001999.4(FBN2):c.1452C>T (p.Ile484=)
|
|
|
|
NM_001999.4(FBN2):c.1458T>A (p.Thr486=)
|
|
|
|
NM_001999.4(FBN2):c.1465+17C>T
|
|
|
|
NM_001999.4(FBN2):c.1466-12A>G
|
|
|
|
NM_001999.4(FBN2):c.1466-17G>T
|
rs2126977471
|
|
|
NM_001999.4(FBN2):c.1466-19G>T
|
|
|
|
NM_001999.4(FBN2):c.1466-5del
|
|
|
|
NM_001999.4(FBN2):c.1473G>C (p.Leu491=)
|
|
|
|
NM_001999.4(FBN2):c.147C>A (p.Ser49=)
|
|
|
|
NM_001999.4(FBN2):c.147C>T (p.Ser49=)
|
rs1194404343
|
|
|
NM_001999.4(FBN2):c.1512T>G (p.Leu504=)
|
|
|
|
NM_001999.4(FBN2):c.1526G>A (p.Arg509His)
|
rs199587570
|
|
|
NM_001999.4(FBN2):c.1537A>G (p.Thr513Ala)
|
|
|
|
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr)
|
rs528255772
|
|
|
NM_001999.4(FBN2):c.1589A>G (p.Asn530Ser)
|
|
|
|
NM_001999.4(FBN2):c.1603+15C>G
|
|
|
|
NM_001999.4(FBN2):c.1603+19A>G
|
|
|
|
NM_001999.4(FBN2):c.1603+9G>C
|
rs774984154
|
|
|
NM_001999.4(FBN2):c.1604-7C>T
|
rs2126960298
|
|
|
NM_001999.4(FBN2):c.1604-8G>C
|
|
|
|
NM_001999.4(FBN2):c.1614A>G (p.Glu538=)
|
|
|
|
NM_001999.4(FBN2):c.162T>G (p.Ser54=)
|
|
|
|
NM_001999.4(FBN2):c.1644T>C (p.Asp548=)
|
|
|
|
NM_001999.4(FBN2):c.1662T>C (p.Gly554=)
|
rs1400948280
|
|
|
NM_001999.4(FBN2):c.1686T>G (p.Ala562=)
|
rs1581251758
|
|
|
NM_001999.4(FBN2):c.1723+12T>G
|
|
|
|
NM_001999.4(FBN2):c.1724-14C>A
|
|
|
|
NM_001999.4(FBN2):c.1759A>G (p.Lys587Glu)
|
|
|
|
NM_001999.4(FBN2):c.175C>T (p.Leu59=)
|
|
|
|
NM_001999.4(FBN2):c.1773C>T (p.Cys591=)
|
rs763629454
|
|
|
NM_001999.4(FBN2):c.1797G>A (p.Gln599=)
|
|
|
|
NM_001999.4(FBN2):c.1849+20C>T
|
|
|
|
NM_001999.4(FBN2):c.189T>C (p.Tyr63=)
|
rs1435288732
|
|
|
NM_001999.4(FBN2):c.1917C>T (p.Phe639=)
|
|
|
|
NM_001999.4(FBN2):c.1954A>C (p.Asn652His)
|
rs749765413
|
|
|
NM_001999.4(FBN2):c.1954A>G (p.Asn652Asp)
|
|
|
|
NM_001999.4(FBN2):c.1959G>T (p.Gly653=)
|
|
|
|
NM_001999.4(FBN2):c.1960C>T (p.Arg654Cys)
|
|
|
|
NM_001999.4(FBN2):c.1972+10G>T
|
|
|
|
NM_001999.4(FBN2):c.1972+4TG[2]
|
|
|
|
NM_001999.4(FBN2):c.1973-8C>A
|
|
|
|
NM_001999.4(FBN2):c.1973-9A>T
|
|
|
|
NM_001999.4(FBN2):c.1990A>G (p.Thr664Ala)
|
rs746408145
|
|
|
NM_001999.4(FBN2):c.1995A>G (p.Pro665=)
|
|
|
|
NM_001999.4(FBN2):c.2014C>T (p.His672Tyr)
|
|
|
|
NM_001999.4(FBN2):c.2042G>T (p.Arg681Leu)
|
rs548605398
|
|
|
NM_001999.4(FBN2):c.2049C>T (p.Asp683=)
|
|
|
|
NM_001999.4(FBN2):c.2053C>A (p.Pro685Thr)
|
rs141291125
|
|
|
NM_001999.4(FBN2):c.2060G>A (p.Gly687Asp)
|
|
|
|
NM_001999.4(FBN2):c.2095+8A>T
|
|
|
|
NM_001999.4(FBN2):c.2103C>T (p.His701=)
|
rs148920354
|
|
|
NM_001999.4(FBN2):c.2150G>A (p.Arg717His)
|
|
|
|
NM_001999.4(FBN2):c.2161G>A (p.Gly721Ser)
|
rs149733159
|
|
|
NM_001999.4(FBN2):c.2161G>C (p.Gly721Arg)
|
rs149733159
|
|
|
NM_001999.4(FBN2):c.216C>T (p.Ser72=)
|
|
|
|
NM_001999.4(FBN2):c.2187C>T (p.Cys729=)
|
|
|
|
NM_001999.4(FBN2):c.21G>A (p.Leu7=)
|
rs1002853093
|
|
|
NM_001999.4(FBN2):c.2236G>A (p.Ala746Thr)
|
|
|
|
NM_001999.4(FBN2):c.2248+11G>C
|
|
|
|
NM_001999.4(FBN2):c.2249-15C>T
|
|
|
|
NM_001999.4(FBN2):c.2249-18T>C
|
rs996601598
|
|
|
NM_001999.4(FBN2):c.2302+16C>A
|
|
|
|
NM_001999.4(FBN2):c.2302+9A>G
|
|
|
|
NM_001999.4(FBN2):c.2303-18T>G
|
|
|
|
NM_001999.4(FBN2):c.2340C>T (p.Ala780=)
|
rs1060504935
|
|
|
NM_001999.4(FBN2):c.2359T>A (p.Leu787Ile)
|
rs756348656
|
|
|
NM_001999.4(FBN2):c.2367T>C (p.Gly789=)
|
|
|
|
NM_001999.4(FBN2):c.2376T>C (p.Arg792=)
|
|
|
|
NM_001999.4(FBN2):c.2428+12G>T
|
|
|
|
NM_001999.4(FBN2):c.2428+18T>C
|
rs775383249
|
|
|
NM_001999.4(FBN2):c.2429-17T>G
|
|
|
|
NM_001999.4(FBN2):c.2433T>A (p.Ile811=)
|
|
|
|
NM_001999.4(FBN2):c.2436T>C (p.Asp812=)
|
|
|
|
NM_001999.4(FBN2):c.2439A>G (p.Glu813=)
|
rs1581241374
|
|
|
NM_001999.4(FBN2):c.2457G>A (p.Leu819=)
|
rs370465689
|
|
|
NM_001999.4(FBN2):c.2466T>C (p.Asp822=)
|
|
|
|
NM_001999.4(FBN2):c.2473T>C (p.Leu825=)
|
|
|
|
NM_001999.4(FBN2):c.2486C>T (p.Thr829Met)
|
|
|
|
NM_001999.4(FBN2):c.2487G>A (p.Thr829=)
|
rs779455710
|
|
|
NM_001999.4(FBN2):c.251G>C (p.Arg84Pro)
|
|
|
|
NM_001999.4(FBN2):c.254+10C>G
|
|
|
|
NM_001999.4(FBN2):c.254+14C>G
|
|
|
|
NM_001999.4(FBN2):c.254+20C>G
|
|
|
|
NM_001999.4(FBN2):c.2555-20C>G
|
|
|
|
NM_001999.4(FBN2):c.2556T>C (p.Asp852=)
|
rs2126931519
|
|
|
NM_001999.4(FBN2):c.2572A>G (p.Ser858Gly)
|
|
|
|
NM_001999.4(FBN2):c.2588A>G (p.Asn863Ser)
|
|
|
|
NM_001999.4(FBN2):c.2592G>A (p.Gly864=)
|
|
|
|
NM_001999.4(FBN2):c.2621A>G (p.Asn874Ser)
|
|
|
|
NM_001999.4(FBN2):c.2631T>C (p.Cys877=)
|
|
|
|
NM_001999.4(FBN2):c.2633C>T (p.Ser878Leu)
|
|
|
|
NM_001999.4(FBN2):c.2634G>T (p.Ser878=)
|
rs143905167
|
|
|
NM_001999.4(FBN2):c.2646A>G (p.Lys882=)
|
rs1035674949
|
|
|
NM_001999.4(FBN2):c.264G>T (p.Val88=)
|
rs1167442198
|
|
|
NM_001999.4(FBN2):c.2674+9del
|
rs2126931306
|
|
|
NM_001999.4(FBN2):c.2675-20C>T
|
|
|
|
NM_001999.4(FBN2):c.2679C>G (p.Ser893Arg)
|
rs778473524
|
|
|
NM_001999.4(FBN2):c.2694T>C (p.Cys898=)
|
|
|
|
NM_001999.4(FBN2):c.2736T>C (p.Asn912=)
|
rs760088310
|
|
|
NM_001999.4(FBN2):c.2740G>T (p.Ala914Ser)
|
rs370312107
|
|
|
NM_001999.4(FBN2):c.2787G>A (p.Gly929=)
|
|
|
|
NM_001999.4(FBN2):c.2812+14T>C
|
|
|
|
NM_001999.4(FBN2):c.2812+9C>A
|
rs751293821
|
|
|
NM_001999.4(FBN2):c.282C>T (p.His94=)
|
|
|
|
NM_001999.4(FBN2):c.2839A>C (p.Arg947=)
|
rs752949752
|
|
|
NM_001999.4(FBN2):c.2856G>A (p.Thr952=)
|
rs556038110
|
|
|
NM_001999.4(FBN2):c.2863+9A>G
|
|
|
|
NM_001999.4(FBN2):c.2864-15T>C
|
|
|
|
NM_001999.4(FBN2):c.2864-19T>G
|
rs2126919979
|
|
|
NM_001999.4(FBN2):c.287_289del (p.Tyr96del)
|
rs555068280
|
|
|
NM_001999.4(FBN2):c.2886C>T (p.Phe962=)
|
rs972172170
|
|
|
NM_001999.4(FBN2):c.2909G>A (p.Arg970His)
|
rs368402648
|
|
|
NM_001999.4(FBN2):c.2925G>A (p.Lys975=)
|
|
|
|
NM_001999.4(FBN2):c.2931T>C (p.Ser977=)
|
|
|
|
NM_001999.4(FBN2):c.2961G>A (p.Thr987=)
|
rs760390469
|
|
|
NM_001999.4(FBN2):c.2977C>T (p.Arg993Cys)
|
rs752905724
|
|
|
NM_001999.4(FBN2):c.2989+13C>A
|
|
|
|
NM_001999.4(FBN2):c.2990-7G>C
|
rs1245936560
|
|
|
NM_001999.4(FBN2):c.2993T>A (p.Ile998Asn)
|
|
|
|
NM_001999.4(FBN2):c.2994T>A (p.Ile998=)
|
|
|
|
NM_001999.4(FBN2):c.2997C>T (p.Arg999=)
|
rs1751155993
|
|
|
NM_001999.4(FBN2):c.3012C>T (p.Tyr1004=)
|
|
|
|
NM_001999.4(FBN2):c.3018G>A (p.Lys1006=)
|
|
|
|
NM_001999.4(FBN2):c.3045C>G (p.Pro1015=)
|
rs371640952
|
|
|
NM_001999.4(FBN2):c.3057G>T (p.Lys1019Asn)
|
rs863223561
|
|
|
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His)
|
rs139620380
|
|
|
NM_001999.4(FBN2):c.3093G>C (p.Ala1031=)
|
rs528529593
|
|
|
NM_001999.4(FBN2):c.309G>T (p.Thr103=)
|
|
|
|
NM_001999.4(FBN2):c.3128C>A (p.Pro1043His)
|
|
|
|
NM_001999.4(FBN2):c.3145G>C (p.Glu1049Gln)
|
rs771853346
|
|
|
NM_001999.4(FBN2):c.3147G>A (p.Glu1049=)
|
rs1356177204
|
|
|
NM_001999.4(FBN2):c.3161G>A (p.Arg1054His)
|
rs753760095
|
|
|
NM_001999.4(FBN2):c.3161G>T (p.Arg1054Leu)
|
rs753760095
|
|
|
NM_001999.4(FBN2):c.3162C>A (p.Arg1054=)
|
|
|
|
NM_001999.4(FBN2):c.3198T>G (p.Thr1066=)
|
rs2126913781
|
|
|
NM_001999.4(FBN2):c.3202C>T (p.Arg1068Trp)
|
|
|
|
NM_001999.4(FBN2):c.3203G>A (p.Arg1068Gln)
|
rs563921589
|
|
|
NM_001999.4(FBN2):c.3207A>G (p.Pro1069=)
|
|
|
|
NM_001999.4(FBN2):c.3217+12C>T
|
|
|
|
NM_001999.4(FBN2):c.3217+13G>C
|
rs572013507
|
|
|
NM_001999.4(FBN2):c.3217+19C>T
|
|
|
|
NM_001999.4(FBN2):c.3217+8C>A
|
rs1554123700
|
|
|
NM_001999.4(FBN2):c.3218-13A>T
|
rs200543836
|
|
|
NM_001999.4(FBN2):c.3218-4T>C
|
|
|
|
NM_001999.4(FBN2):c.3219C>T (p.Asp1073=)
|
|
|
|
NM_001999.4(FBN2):c.3222C>A (p.Ile1074=)
|
rs1345516642
|
|
|
NM_001999.4(FBN2):c.3246G>A (p.Gly1082=)
|
|
|
|
NM_001999.4(FBN2):c.3285C>T (p.Ser1095=)
|
|
|
|
NM_001999.4(FBN2):c.3343+12C>G
|
|
|
|
NM_001999.4(FBN2):c.3343+12C>T
|
rs2126911962
|
|
|
NM_001999.4(FBN2):c.3344-12C>T
|
|
|
|
NM_001999.4(FBN2):c.3344-13C>A
|
|
|
|
NM_001999.4(FBN2):c.3344-6A>T
|
|
|
|
NM_001999.4(FBN2):c.3352G>A (p.Glu1118Lys)
|
rs1348701377
|
|
|
NM_001999.4(FBN2):c.3367C>T (p.Pro1123Ser)
|
rs764719151
|
|
|
NM_001999.4(FBN2):c.337+12G>T
|
rs2112809114
|
|
|
NM_001999.4(FBN2):c.3372C>T (p.Asp1124=)
|
|
|
|
NM_001999.4(FBN2):c.338-18C>T
|
|
|
|
NM_001999.4(FBN2):c.338-4A>G
|
rs1756678272
|
|
|
NM_001999.4(FBN2):c.3384T>C (p.Ser1128=)
|
|
|
|
NM_001999.4(FBN2):c.3387A>G (p.Gly1129=)
|
|
|
|
NM_001999.4(FBN2):c.3390C>A (p.Ile1130=)
|
|
|
|
NM_001999.4(FBN2):c.3456G>A (p.Met1152Ile)
|
rs863223565
|
|
|
NM_001999.4(FBN2):c.3472+9C>T
|
rs372520452
|
|
|
NM_001999.4(FBN2):c.3473-15G>A
|
|
|
|
NM_001999.4(FBN2):c.3473-16C>T
|
|
|
|
NM_001999.4(FBN2):c.3474C>T (p.Asp1158=)
|
|
|
|
NM_001999.4(FBN2):c.3480C>A (p.Asp1160Glu)
|
|
|
|
NM_001999.4(FBN2):c.3480C>T (p.Asp1160=)
|
rs142323824
|
|
|
NM_001999.4(FBN2):c.3489A>C (p.Glu1163Asp)
|
|
|
|
NM_001999.4(FBN2):c.3501C>G (p.Leu1167=)
|
rs2126902161
|
|
|
NM_001999.4(FBN2):c.3570G>A (p.Glu1190=)
|
rs2126902008
|
|
|
NM_001999.4(FBN2):c.3599-13G>T
|
|
|
|
NM_001999.4(FBN2):c.360A>T (p.Gly120=)
|
|
|
|
NM_001999.4(FBN2):c.3626A>G (p.Asn1209Ser)
|
|
|
|
NM_001999.4(FBN2):c.3690A>T (p.Gly1230=)
|
rs774807410
|
|
|
NM_001999.4(FBN2):c.36C>T (p.Tyr12=)
|
rs1581380471
|
|
|
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His)
|
rs142185964
|
|
|
NM_001999.4(FBN2):c.3711C>T (p.Arg1237=)
|
|
|
|
NM_001999.4(FBN2):c.3725-18G>T
|
|
|
|
NM_001999.4(FBN2):c.3783G>C (p.Glu1261Asp)
|
|
|
|
NM_001999.4(FBN2):c.382A>G (p.Asn128Asp)
|
|
|
|
NM_001999.4(FBN2):c.3848-10G>A
|
rs140017238
|
|
|
NM_001999.4(FBN2):c.3849C>T (p.Asp1283=)
|
rs983684093
|
|
|
NM_001999.4(FBN2):c.3866A>G (p.Asn1289Ser)
|
|
|
|
NM_001999.4(FBN2):c.3885T>C (p.Asp1295=)
|
|
|
|
NM_001999.4(FBN2):c.3888C>T (p.Gly1296=)
|
|
|
|
NM_001999.4(FBN2):c.3900C>A (p.Thr1300=)
|
|
|
|
NM_001999.4(FBN2):c.3900C>T (p.Thr1300=)
|
rs754193286
|
|
|
NM_001999.4(FBN2):c.3909T>C (p.Pro1303=)
|
|
|
|
NM_001999.4(FBN2):c.3973+17A>G
|
|
|
|
NM_001999.4(FBN2):c.3973+7A>G
|
|
|
|
NM_001999.4(FBN2):c.3974-19T>A
|
rs112950479
|
|
|
NM_001999.4(FBN2):c.4002T>C (p.Asn1334=)
|
rs759408247
|
|
|
NM_001999.4(FBN2):c.4017G>A (p.Gly1339=)
|
|
|
|
NM_001999.4(FBN2):c.4032A>G (p.Thr1344=)
|
|
|
|
NM_001999.4(FBN2):c.4038A>T (p.Gly1346=)
|
|
|
|
NM_001999.4(FBN2):c.4044C>T (p.Phe1348=)
|
|
|
|
NM_001999.4(FBN2):c.4089A>C (p.Thr1363=)
|
|
|
|
NM_001999.4(FBN2):c.4099+12G>A
|
|
|
|
NM_001999.4(FBN2):c.4099+7T>G
|
rs1750789192
|
|
|
NM_001999.4(FBN2):c.4100-11T>C
|
|
|
|
NM_001999.4(FBN2):c.4100-19A>G
|
|
|
|
NM_001999.4(FBN2):c.4100-19A>T
|
rs200803675
|
|
|
NM_001999.4(FBN2):c.4100-6T>C
|
|
|
|
NM_001999.4(FBN2):c.4100-8T>C
|
|
|
|
NM_001999.4(FBN2):c.411A>G (p.Ile137Met)
|
|
|
|
NM_001999.4(FBN2):c.4147T>C (p.Ser1383Pro)
|
|
|
|
NM_001999.4(FBN2):c.4149A>G (p.Ser1383=)
|
|
|
|
NM_001999.4(FBN2):c.4203A>G (p.Gly1401=)
|
|
|
|
NM_001999.4(FBN2):c.4228G>A (p.Asp1410Asn)
|
rs1478574969
|
|
|
NM_001999.4(FBN2):c.4230C>T (p.Asp1410=)
|
rs138289440
|
|
|
NM_001999.4(FBN2):c.4254G>A (p.Gln1418=)
|
|
|
|
NM_001999.4(FBN2):c.4276G>A (p.Val1426Ile)
|
|
|
|
NM_001999.4(FBN2):c.4302T>C (p.Cys1434=)
|
rs2126889007
|
|
|
NM_001999.4(FBN2):c.4323T>C (p.Thr1441=)
|
|
|
|
NM_001999.4(FBN2):c.4345+19G>A
|
rs886038503
|
|
|
NM_001999.4(FBN2):c.4346-16T>A
|
|
|
|
NM_001999.4(FBN2):c.436+13C>T
|
|
|
|
NM_001999.4(FBN2):c.437-12T>C
|
|
|
|
NM_001999.4(FBN2):c.4397T>G (p.Leu1466Arg)
|
|
|
|
NM_001999.4(FBN2):c.4404C>T (p.Val1468=)
|
|
|
|
NM_001999.4(FBN2):c.4410T>G (p.Gly1470=)
|
|
|
|
NM_001999.4(FBN2):c.4413A>G (p.Ala1471=)
|
|
|
|
NM_001999.4(FBN2):c.4423G>A (p.Glu1475Lys)
|
|
|
|
NM_001999.4(FBN2):c.4442C>T (p.Thr1481Ile)
|
|
|
|
NM_001999.4(FBN2):c.4471+9C>A
|
|
|
|
NM_001999.4(FBN2):c.4472-18T>A
|
rs200285828
|
|
|
NM_001999.4(FBN2):c.4472-18T>G
|
|
|
|
NM_001999.4(FBN2):c.4472-19T>A
|
|
|
|
NM_001999.4(FBN2):c.4472-7T>C
|
|
|
|
NM_001999.4(FBN2):c.4545C>T (p.Cys1515=)
|
rs1348263135
|
|
|
NM_001999.4(FBN2):c.4563T>C (p.Tyr1521=)
|
rs1434367982
|
|
|
NM_001999.4(FBN2):c.4573A>G (p.Arg1525Gly)
|
|
|
|
NM_001999.4(FBN2):c.4584G>A (p.Gly1528=)
|
rs1554121089
|
|
|
NM_001999.4(FBN2):c.4590T>C (p.Cys1530=)
|
rs1581212624
|
|
|
NM_001999.4(FBN2):c.4595-4C>A
|
|
|
|
NM_001999.4(FBN2):c.4620A>C (p.Ile1540=)
|
|
|
|
NM_001999.4(FBN2):c.4659C>T (p.Arg1553=)
|
|
|
|
NM_001999.4(FBN2):c.4665G>A (p.Glu1555=)
|
|
|
|
NM_001999.4(FBN2):c.4674C>T (p.Cys1558=)
|
|
|
|
NM_001999.4(FBN2):c.4677A>G (p.Pro1559=)
|
rs1581212135
|
|
|
NM_001999.4(FBN2):c.4710T>C (p.Gly1570=)
|
|
|
|
NM_001999.4(FBN2):c.4718-6C>T
|
|
|
|
NM_001999.4(FBN2):c.471G>A (p.Gly157=)
|
|
|
|
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln)
|
rs143195229
|
|
|
NM_001999.4(FBN2):c.4767G>T (p.Gly1589=)
|
rs1750089730
|
|
|
NM_001999.4(FBN2):c.4771C>G (p.Leu1591Val)
|
|
|
|
NM_001999.4(FBN2):c.4773G>A (p.Leu1591=)
|
rs753387547
|
|
|
NM_001999.4(FBN2):c.4815A>C (p.Ser1605=)
|
rs377657220
|
|
|
NM_001999.4(FBN2):c.4828C>T (p.Leu1610=)
|
|
|
|
NM_001999.4(FBN2):c.4863C>T (p.Cys1621=)
|
|
|
|
NM_001999.4(FBN2):c.4867C>T (p.Pro1623Ser)
|
rs139830237
|
|
|
NM_001999.4(FBN2):c.4879+12G>A
|
|
|
|
NM_001999.4(FBN2):c.4879+16A>G
|
rs2126847534
|
|
|
NM_001999.4(FBN2):c.4880-12A>G
|
rs376111927
|
|
|
NM_001999.4(FBN2):c.4880-14C>G
|
|
|
|
NM_001999.4(FBN2):c.4896G>A (p.Leu1632=)
|
|
|
|
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=)
|
rs773597432
|
|
|
NM_001999.4(FBN2):c.4948+15T>C
|
|
|
|
NM_001999.4(FBN2):c.4949-12C>T
|
|
|
|
NM_001999.4(FBN2):c.4949-17T>C
|
rs2126846281
|
|
|
NM_001999.4(FBN2):c.4949-19A>C
|
|
|
|
NM_001999.4(FBN2):c.4949-6T>C
|
|
|
|
NM_001999.4(FBN2):c.4971A>G (p.Leu1657=)
|
|
|
|
NM_001999.4(FBN2):c.4980C>T (p.Leu1660=)
|
|
|
|
NM_001999.4(FBN2):c.4986G>A (p.Gln1662=)
|
rs1554120357
|
|
|
NM_001999.4(FBN2):c.5052C>T (p.Ser1684=)
|
|
|
|
NM_001999.4(FBN2):c.5068T>C (p.Cys1690Arg)
|
rs141401126
|
|
|
NM_001999.4(FBN2):c.5074+12T>A
|
|
|
|
NM_001999.4(FBN2):c.5075-10C>G
|
|
|
|
NM_001999.4(FBN2):c.5075-19A>T
|
|
|
|
NM_001999.4(FBN2):c.5075-20_5075-17del
|
|
|
|
NM_001999.4(FBN2):c.5118G>A (p.Gly1706=)
|
rs1284156837
|
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
|
NM_001999.4(FBN2):c.5201-17dup
|
|
|
|
NM_001999.4(FBN2):c.5201-19T>G
|
|
|
|
NM_001999.4(FBN2):c.5201-20C>A
|
|
|
|
NM_001999.4(FBN2):c.5257T>C (p.Leu1753=)
|
|
|
|
NM_001999.4(FBN2):c.528A>G (p.Gly176=)
|
|
|
|
NM_001999.4(FBN2):c.5307C>A (p.Gly1769=)
|
rs755781072
|
|
|
NM_001999.4(FBN2):c.532+16T>G
|
|
|
|
NM_001999.4(FBN2):c.533-14A>G
|
|
|
|
NM_001999.4(FBN2):c.533-4G>A
|
|
|
|
NM_001999.4(FBN2):c.5337C>T (p.Cys1779=)
|
rs1307268596
|
|
|
NM_001999.4(FBN2):c.533C>T (p.Pro178Leu)
|
|
|
|
NM_001999.4(FBN2):c.5346A>G (p.Pro1782=)
|
rs2126842864
|
|
|
NM_001999.4(FBN2):c.5353+10C>A
|
rs113589974
|
|
|
NM_001999.4(FBN2):c.5353+15C>A
|
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|
|
NM_001999.4(FBN2):c.5353+16G>C
|
|
|
|
NM_001999.4(FBN2):c.5354-4A>G
|
rs2126840686
|
|
|
NM_001999.4(FBN2):c.5392A>G (p.Thr1798Ala)
|
|
|
|
NM_001999.4(FBN2):c.5422+11C>T
|
|
|
|
NM_001999.4(FBN2):c.5422+14G>A
|
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|
NM_001999.4(FBN2):c.5422+20G>A
|
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|
NM_001999.4(FBN2):c.5423-18A>C
|
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|
|
NM_001999.4(FBN2):c.5423-18A>G
|
|
|
|
NM_001999.4(FBN2):c.5472C>T (p.Cys1824=)
|
rs1385121154
|
|
|
NM_001999.4(FBN2):c.5511A>G (p.Thr1837=)
|
|
|
|
NM_001999.4(FBN2):c.5549-8T>C
|
|
|
|
NM_001999.4(FBN2):c.5550T>C (p.Asp1850=)
|
|
|
|
NM_001999.4(FBN2):c.5593G>T (p.Ala1865Ser)
|
rs200681872
|
|
|
NM_001999.4(FBN2):c.5595A>T (p.Ala1865=)
|
rs1749846586
|
|
|
NM_001999.4(FBN2):c.5623C>T (p.Arg1875Cys)
|
|
|
|
NM_001999.4(FBN2):c.5674+12G>A
|
|
|
|
NM_001999.4(FBN2):c.5674+8A>G
|
rs2126838714
|
|
|
NM_001999.4(FBN2):c.5675-14T>A
|
|
|
|
NM_001999.4(FBN2):c.5675-17A>G
|
|
|
|
NM_001999.4(FBN2):c.5675-18del
|
|
|
|
NM_001999.4(FBN2):c.5700T>C (p.Pro1900=)
|
|
|
|
NM_001999.4(FBN2):c.5718C>T (p.Gly1906=)
|
|
|
|
NM_001999.4(FBN2):c.573C>A (p.Ile191=)
|
|
|
|
NM_001999.4(FBN2):c.5744A>T (p.Tyr1915Phe)
|
|
|
|
NM_001999.4(FBN2):c.5745C>T (p.Tyr1915=)
|
|
|
|
NM_001999.4(FBN2):c.5754C>A (p.Ile1918=)
|
rs1554119714
|
|
|
NM_001999.4(FBN2):c.5775T>C (p.Ala1925=)
|
|
|
|
NM_001999.4(FBN2):c.579C>G (p.Pro193=)
|
|
|
|
NM_001999.4(FBN2):c.5800+16G>A
|
|
|
|
NM_001999.4(FBN2):c.5800+20C>T
|
rs1554119695
|
|
|
NM_001999.4(FBN2):c.5800+9G>A
|
|
|
|
NM_001999.4(FBN2):c.5801-18G>T
|
|
|
|
NM_001999.4(FBN2):c.5801-5T>G
|
rs571282132
|
|
|
NM_001999.4(FBN2):c.5805T>C (p.Val1935=)
|
rs777941578
|
|
|
NM_001999.4(FBN2):c.5818C>T (p.Arg1940Trp)
|
rs755672868
|
|
|
NM_001999.4(FBN2):c.584G>A (p.Arg195His)
|
rs746890032
|
|
|
NM_001999.4(FBN2):c.5868C>T (p.Asn1956=)
|
|
|
|
NM_001999.4(FBN2):c.5871T>C (p.Cys1957=)
|
|
|
|
NM_001999.4(FBN2):c.5886G>C (p.Gly1962=)
|
rs747408641
|
|
|
NM_001999.4(FBN2):c.5889T>C (p.Phe1963=)
|
rs1554119526
|
|
|
NM_001999.4(FBN2):c.5895C>G (p.Leu1965=)
|
rs1581201379
|
|
|
NM_001999.4(FBN2):c.5898T>C (p.Thr1966=)
|
rs2126835924
|
|
|
NM_001999.4(FBN2):c.5917+10T>G
|
|
|
|
NM_001999.4(FBN2):c.5917+20C>T
|
|
|
|
NM_001999.4(FBN2):c.5918-13T>C
|
|
|
|
NM_001999.4(FBN2):c.5918-20A>G
|
|
|
|
NM_001999.4(FBN2):c.5971T>C (p.Phe1991Leu)
|
|
|
|
NM_001999.4(FBN2):c.5976T>C (p.Asn1992=)
|
rs1749717202
|
|
|
NM_001999.4(FBN2):c.6046+10T>C
|
rs1179452976
|
|
|
NM_001999.4(FBN2):c.6046+16A>G
|
|
|
|
NM_001999.4(FBN2):c.6047-13T>C
|
|
|
|
NM_001999.4(FBN2):c.6071C>A (p.Pro2024His)
|
|
|
|
NM_001999.4(FBN2):c.60G>C (p.Val20=)
|
|
|
|
NM_001999.4(FBN2):c.6147A>G (p.Val2049=)
|
|
|
|
NM_001999.4(FBN2):c.6154G>A (p.Glu2052Lys)
|
|
|
|
NM_001999.4(FBN2):c.6167-12C>T
|
|
|
|
NM_001999.4(FBN2):c.6167-13_6167-11del
|
rs1749326713
|
|
|
NM_001999.4(FBN2):c.6167-15C>A
|
rs1749327059
|
|
|
NM_001999.4(FBN2):c.6167-4G>A
|
rs370981323
|
|
|
NM_001999.4(FBN2):c.6195C>T (p.Asn2065=)
|
|
|
|
NM_001999.4(FBN2):c.6231G>A (p.Gly2077=)
|
|
|
|
NM_001999.4(FBN2):c.6270T>C (p.Ser2090=)
|
rs2126822027
|
|
|
NM_001999.4(FBN2):c.628+20T>G
|
|
|
|
NM_001999.4(FBN2):c.628+8G>A
|
|
|
|
NM_001999.4(FBN2):c.6281G>A (p.Arg2094Gln)
|
|
|
|
NM_001999.4(FBN2):c.6282G>T (p.Arg2094=)
|
|
|
|
NM_001999.4(FBN2):c.629-11C>T
|
rs2127084540
|
|
|
NM_001999.4(FBN2):c.629-15T>G
|
|
|
|
NM_001999.4(FBN2):c.629-26TCTT[4]
|
rs778383061
|
|
|
NM_001999.4(FBN2):c.6292+11G>C
|
|
|
|
NM_001999.4(FBN2):c.6292+17C>G
|
|
|
|
NM_001999.4(FBN2):c.6292+17C>T
|
rs776362563
|
|
|
NM_001999.4(FBN2):c.6293-13C>A
|
|
|
|
NM_001999.4(FBN2):c.63C>G (p.Leu21=)
|
rs2112811119
|
|
|
NM_001999.4(FBN2):c.6424C>T (p.Leu2142=)
|
rs2126821243
|
|
|
NM_001999.4(FBN2):c.6426G>A (p.Leu2142=)
|
rs2126821236
|
|
|
NM_001999.4(FBN2):c.6426G>C (p.Leu2142=)
|
rs2126821236
|
|
|
NM_001999.4(FBN2):c.6437A>G (p.Asp2146Gly)
|
rs760548036
|
|
|
NM_001999.4(FBN2):c.6445+14C>T
|
|
|
|
NM_001999.4(FBN2):c.6445+7G>T
|
|
|
|
NM_001999.4(FBN2):c.6446-12T>G
|
|
|
|
NM_001999.4(FBN2):c.6446-15T>C
|
|
|
|
NM_001999.4(FBN2):c.6446-4G>C
|
|
|
|
NM_001999.4(FBN2):c.6446-8C>A
|
rs2126820462
|
|
|
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala)
|
rs191065419
|
|
|
NM_001999.4(FBN2):c.6456G>A (p.Gln2152=)
|
|
|
|
NM_001999.4(FBN2):c.645G>T (p.Pro215=)
|
rs764473594
|
|
|
NM_001999.4(FBN2):c.6468A>G (p.Pro2156=)
|
|
|
|
NM_001999.4(FBN2):c.6506G>A (p.Arg2169His)
|
|
|
|
NM_001999.4(FBN2):c.6512-11C>A
|
rs759648926
|
|
|
NM_001999.4(FBN2):c.6512-11C>T
|
rs759648926
|
|
|
NM_001999.4(FBN2):c.6512-8T>A
|
rs2126819626
|
|
|
NM_001999.4(FBN2):c.6571G>A (p.Asp2191Asn)
|
rs1244642553
|
|
|
NM_001999.4(FBN2):c.6637+8T>C
|
rs780697390
|
|
|
NM_001999.4(FBN2):c.6638-13T>A
|
|
|
|
NM_001999.4(FBN2):c.6638-15_6638-13del
|
rs756212920
|
|
|
NM_001999.4(FBN2):c.6638-19T>C
|
rs2126818779
|
|
|
NM_001999.4(FBN2):c.6638-9_6638-7del
|
rs754187604
|
|
|
NM_001999.4(FBN2):c.6678T>C (p.Gly2226=)
|
rs2126818668
|
|
|
NM_001999.4(FBN2):c.6693T>C (p.Val2231=)
|
rs1554118051
|
|
|
NM_001999.4(FBN2):c.6719A>G (p.Asn2240Ser)
|
rs863223612
|
|
|
NM_001999.4(FBN2):c.6757+8A>T
|
|
|
|
NM_001999.4(FBN2):c.6757+9T>C
|
|
|
|
NM_001999.4(FBN2):c.6758-12del
|
rs757126046
|
|
|
NM_001999.4(FBN2):c.676C>G (p.Gln226Glu)
|
|
|
|
NM_001999.4(FBN2):c.6777G>A (p.Gln2259=)
|
|
|
|
NM_001999.4(FBN2):c.677A>G (p.Gln226Arg)
|
|
|
|
NM_001999.4(FBN2):c.6783A>C (p.Pro2261=)
|
rs1561749096
|
|
|
NM_001999.4(FBN2):c.6786G>T (p.Leu2262=)
|
|
|
|
NM_001999.4(FBN2):c.6840G>A (p.Pro2280=)
|
rs377742525
|
|
|
NM_001999.4(FBN2):c.685C>T (p.Leu229=)
|
rs200698449
|
|
|
NM_001999.4(FBN2):c.6880+16C>T
|
|
|
|
NM_001999.4(FBN2):c.6880+19G>T
|
|
|
|
NM_001999.4(FBN2):c.6881-13T>C
|
|
|
|
NM_001999.4(FBN2):c.6881-19T>A
|
|
|
|
NM_001999.4(FBN2):c.6881-4C>G
|
|
|
|
NM_001999.4(FBN2):c.6903G>A (p.Gly2301=)
|
|
|
|
NM_001999.4(FBN2):c.6903G>T (p.Gly2301=)
|
rs886039130
|
|
|
NM_001999.4(FBN2):c.6908A>G (p.His2303Arg)
|
|
|
|
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=)
|
rs17608368
|
|
|
NM_001999.4(FBN2):c.6972T>A (p.Pro2324=)
|
|
|
|
NM_001999.4(FBN2):c.6972T>C (p.Pro2324=)
|
rs1581188714
|
|
|
NM_001999.4(FBN2):c.6972T>G (p.Pro2324=)
|
|
|
|
NM_001999.4(FBN2):c.6975T>C (p.Pro2325=)
|
|
|
|
NM_001999.4(FBN2):c.6986G>T (p.Arg2329Leu)
|
rs370804151
|
|
|
NM_001999.4(FBN2):c.6993C>T (p.Pro2331=)
|
rs368234173
|
|
|
NM_001999.4(FBN2):c.6999A>C (p.Gly2333=)
|
|
|
|
NM_001999.4(FBN2):c.7012+13G>A
|
|
|
|
NM_001999.4(FBN2):c.7012+18G>T
|
|
|
|
NM_001999.4(FBN2):c.7012+7G>C
|
rs199735209
|
|
|
NM_001999.4(FBN2):c.7012+8G>A
|
rs1422660066
|
|
|
NM_001999.4(FBN2):c.7013-5del
|
|
|
|
NM_001999.4(FBN2):c.7013-7T>C
|
|
|
|
NM_001999.4(FBN2):c.705G>A (p.Thr235=)
|
|
|
|
NM_001999.4(FBN2):c.705G>T (p.Thr235=)
|
|
|
|
NM_001999.4(FBN2):c.7085G>A (p.Arg2362Lys)
|
rs771718967
|
|
|
NM_001999.4(FBN2):c.7085G>C (p.Arg2362Thr)
|
rs771718967
|
|
|
NM_001999.4(FBN2):c.7128T>C (p.Thr2376=)
|
rs1765497836
|
|
|
NM_001999.4(FBN2):c.714G>C (p.Leu238=)
|
|
|
|
NM_001999.4(FBN2):c.7155C>T (p.Leu2385=)
|
|
|
|
NM_001999.4(FBN2):c.7158C>T (p.Cys2386=)
|
rs759522946
|
|
|
NM_001999.4(FBN2):c.7161T>C (p.Phe2387=)
|
|
|
|
NM_001999.4(FBN2):c.7170A>T (p.Val2390=)
|
|
|
|
NM_001999.4(FBN2):c.7204C>T (p.Arg2402Cys)
|
|
|
|
NM_001999.4(FBN2):c.7260C>T (p.His2420=)
|
rs775251012
|
|
|
NM_001999.4(FBN2):c.7278A>G (p.Pro2426=)
|
rs773011673
|
|
|
NM_001999.4(FBN2):c.7288A>G (p.Thr2430Ala)
|
|
|
|
NM_001999.4(FBN2):c.7345+10T>C
|
|
|
|
NM_001999.4(FBN2):c.7345+9T>A
|
|
|
|
NM_001999.4(FBN2):c.7346-17G>T
|
|
|
|
NM_001999.4(FBN2):c.7346-8G>A
|
rs2126808910
|
|
|
NM_001999.4(FBN2):c.736G>A (p.Ala246Thr)
|
rs141088981
|
|
|
NM_001999.4(FBN2):c.737C>T (p.Ala246Val)
|
|
|
|
NM_001999.4(FBN2):c.738G>T (p.Ala246=)
|
|
|
|
NM_001999.4(FBN2):c.7392G>A (p.Gln2464=)
|
|
|
|
NM_001999.4(FBN2):c.7404C>G (p.Thr2468=)
|
|
|
|
NM_001999.4(FBN2):c.7418G>A (p.Arg2473Gln)
|
rs28763925
|
|
|
NM_001999.4(FBN2):c.7418G>T (p.Arg2473Leu)
|
rs28763925
|
|
|
NM_001999.4(FBN2):c.7428C>T (p.Cys2476=)
|
rs2126808790
|
|
|
NM_001999.4(FBN2):c.7464T>C (p.Ser2488=)
|
rs1765435027
|
|
|
NM_001999.4(FBN2):c.7467T>C (p.Cys2489=)
|
|
|
|
NM_001999.4(FBN2):c.7468A>G (p.Ile2490Val)
|
|
|
|
NM_001999.4(FBN2):c.7495C>A (p.Pro2499Thr)
|
|
|
|
NM_001999.4(FBN2):c.7539T>C (p.Tyr2513=)
|
rs1581181343
|
|
|
NM_001999.4(FBN2):c.7560G>C (p.Gly2520=)
|
|
|
|
NM_001999.4(FBN2):c.7567C>T (p.Leu2523=)
|
rs2126807268
|
|
|
NM_001999.4(FBN2):c.7594+14C>T
|
|
|
|
NM_001999.4(FBN2):c.7595-12C>G
|
|
|
|
NM_001999.4(FBN2):c.7595-14C>G
|
|
|
|
NM_001999.4(FBN2):c.7595-15T>C
|
|
|
|
NM_001999.4(FBN2):c.7595-17C>A
|
rs1353897134
|
|
|
NM_001999.4(FBN2):c.7611A>G (p.Gln2537=)
|
|
|
|
NM_001999.4(FBN2):c.7650C>T (p.Thr2550=)
|
|
|
|
NM_001999.4(FBN2):c.7656G>A (p.Gly2552=)
|
rs982288060
|
|
|
NM_001999.4(FBN2):c.7656G>T (p.Gly2552=)
|
|
|
|
NM_001999.4(FBN2):c.7658G>C (p.Gly2553Ala)
|
rs764514988
|
|
|
NM_001999.4(FBN2):c.7698C>A (p.His2566Gln)
|
|
|
|
NM_001999.4(FBN2):c.7704T>C (p.Ala2568=)
|
rs778549338
|
|
|
NM_001999.4(FBN2):c.7712-8T>G
|
|
|
|
NM_001999.4(FBN2):c.7758A>C (p.Gly2586=)
|
rs1765323936
|
|
|
NM_001999.4(FBN2):c.7773T>C (p.Thr2591=)
|
rs1554116608
|
|
|
NM_001999.4(FBN2):c.7818T>C (p.Asp2606=)
|
|
|
|
NM_001999.4(FBN2):c.7837G>A (p.Glu2613Lys)
|
|
|
|
NM_001999.4(FBN2):c.7840+10T>C
|
|
|
|
NM_001999.4(FBN2):c.7841-14G>A
|
rs751308498
|
|
|
NM_001999.4(FBN2):c.78G>C (p.Thr26=)
|
rs1265112696
|
|
|
NM_001999.4(FBN2):c.78G>T (p.Thr26=)
|
|
|
|
NM_001999.4(FBN2):c.7906A>C (p.Arg2636=)
|
|
|
|
NM_001999.4(FBN2):c.7914C>T (p.Gly2638=)
|
|
|
|
NM_001999.4(FBN2):c.795C>T (p.Phe265=)
|
|
|
|
NM_001999.4(FBN2):c.7A>C (p.Arg3=)
|
rs1466844222
|
|
|
NM_001999.4(FBN2):c.8001T>A (p.Ala2667=)
|
|
|
|
NM_001999.4(FBN2):c.8016C>A (p.Thr2672=)
|
|
|
|
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser)
|
rs763870762
|
|
|
NM_001999.4(FBN2):c.8040C>T (p.Cys2680=)
|
|
|
|
NM_001999.4(FBN2):c.8049G>T (p.Gly2683=)
|
rs138044126
|
|
|
NM_001999.4(FBN2):c.8058C>T (p.Phe2686=)
|
rs150734807
|
|
|
NM_001999.4(FBN2):c.8061C>T (p.Asp2687=)
|
|
|
|
NM_001999.4(FBN2):c.806T>C (p.Ile269Thr)
|
rs771008563
|
|
|
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln)
|
rs142755118
|
|
|
NM_001999.4(FBN2):c.8082C>T (p.His2694=)
|
rs142755118
|
|
|
NM_001999.4(FBN2):c.8083G>A (p.Asp2695Asn)
|
|
|
|
NM_001999.4(FBN2):c.809G>A (p.Arg270His)
|
rs148971572
|
|
|
NM_001999.4(FBN2):c.8100G>A (p.Ser2700=)
|
|
|
|
NM_001999.4(FBN2):c.8100G>C (p.Ser2700=)
|
rs138659121
|
|
|
NM_001999.4(FBN2):c.8127C>G (p.Gly2709=)
|
rs141841206
|
|
|
NM_001999.4(FBN2):c.8138C>T (p.Thr2713Met)
|
rs754101758
|
|
|
NM_001999.4(FBN2):c.8143G>A (p.Gly2715Arg)
|
rs772569905
|
|
|
NM_001999.4(FBN2):c.8164C>T (p.Pro2722Ser)
|
|
|
|
NM_001999.4(FBN2):c.8187A>G (p.Gly2729=)
|
|
|
|
NM_001999.4(FBN2):c.8192+20C>T
|
|
|
|
NM_001999.4(FBN2):c.8192+7C>A
|
rs376135657
|
|
|
NM_001999.4(FBN2):c.8193-9T>G
|
|
|
|
NM_001999.4(FBN2):c.81C>A (p.Ala27=)
|
|
|
|
NM_001999.4(FBN2):c.8251G>A (p.Val2751Ile)
|
|
|
|
NM_001999.4(FBN2):c.826+18C>G
|
|
|
|
NM_001999.4(FBN2):c.827-10C>T
|
|
|
|
NM_001999.4(FBN2):c.827-13T>G
|
|
|
|
NM_001999.4(FBN2):c.827-4G>A
|
|
|
|
NM_001999.4(FBN2):c.8270T>A (p.Leu2757Gln)
|
|
|
|
NM_001999.4(FBN2):c.8313T>C (p.Ser2771=)
|
|
|
|
NM_001999.4(FBN2):c.8322C>T (p.Asp2774=)
|
rs1554115402
|
|
|
NM_001999.4(FBN2):c.8327G>A (p.Arg2776Lys)
|
|
|
|
NM_001999.4(FBN2):c.8331G>A (p.Gln2777=)
|
|
|
|
NM_001999.4(FBN2):c.834T>C (p.Asp278=)
|
rs2127056960
|
|
|
NM_001999.4(FBN2):c.8359A>G (p.Thr2787Ala)
|
|
|
|
NM_001999.4(FBN2):c.8364+17C>T
|
|
|
|
NM_001999.4(FBN2):c.8364+7A>G
|
rs185052980
|
|
|
NM_001999.4(FBN2):c.8364+8T>C
|
rs1554115371
|
|
|
NM_001999.4(FBN2):c.8365-17T>G
|
|
|
|
NM_001999.4(FBN2):c.8365-4C>G
|
rs878854480
|
|
|
NM_001999.4(FBN2):c.8379C>T (p.Ser2793=)
|
|
|
|
NM_001999.4(FBN2):c.837A>G (p.Glu279=)
|
rs2127056950
|
|
|
NM_001999.4(FBN2):c.8391C>G (p.Val2797=)
|
|
|
|
NM_001999.4(FBN2):c.8392G>A (p.Asp2798Asn)
|
|
|
|
NM_001999.4(FBN2):c.8430C>A (p.Ser2810=)
|
|
|
|
NM_001999.4(FBN2):c.8493C>T (p.His2831=)
|
|
|
|
NM_001999.4(FBN2):c.8495T>A (p.Ile2832Asn)
|
|
|
|
NM_001999.4(FBN2):c.8499T>G (p.Arg2833=)
|
|
|
|
NM_001999.4(FBN2):c.84C>A (p.Gly28=)
|
|
|
|
NM_001999.4(FBN2):c.8508C>T (p.Ile2836=)
|
rs1764914729
|
|
|
NM_001999.4(FBN2):c.8517G>C (p.Gly2839=)
|
rs1764914519
|
|
|
NM_001999.4(FBN2):c.8529C>T (p.Ser2843=)
|
|
|
|
NM_001999.4(FBN2):c.8536C>T (p.Arg2846Cys)
|
|
|
|
NM_001999.4(FBN2):c.8537G>T (p.Arg2846Leu)
|
rs200345491
|
|
|
NM_001999.4(FBN2):c.8543A>G (p.His2848Arg)
|
rs1291203524
|
|
|
NM_001999.4(FBN2):c.8544C>T (p.His2848=)
|
|
|
|
NM_001999.4(FBN2):c.8584A>C (p.Lys2862Gln)
|
|
|
|
NM_001999.4(FBN2):c.8585A>C (p.Lys2862Thr)
|
|
|
|
NM_001999.4(FBN2):c.8587C>T (p.Leu2863Phe)
|
|
|
|
NM_001999.4(FBN2):c.8589C>T (p.Leu2863=)
|
rs886038784
|
|
|
NM_001999.4(FBN2):c.8607A>G (p.Thr2869=)
|
|
|
|
NM_001999.4(FBN2):c.8639A>G (p.Lys2880Arg)
|
rs1367710207
|
|
|
NM_001999.4(FBN2):c.8664G>C (p.Glu2888Asp)
|
|
|
|
NM_001999.4(FBN2):c.8677G>A (p.Asp2893Asn)
|
rs748874308
|
|
|
NM_001999.4(FBN2):c.8688A>G (p.Leu2896=)
|
rs1194973560
|
|
|
NM_001999.4(FBN2):c.8703G>A (p.Glu2901=)
|
rs1374026282
|
|
|
NM_001999.4(FBN2):c.8734T>C (p.Tyr2912His)
|
|
|
|
NM_001999.4(FBN2):c.89C>T (p.Pro30Leu)
|
|
|
|
NM_001999.4(FBN2):c.924A>G (p.Lys308=)
|
|
|
|
NM_001999.4(FBN2):c.952+14C>G
|
|
|
|
NM_001999.4(FBN2):c.952+7CT[2]
|
rs750915525
|
|
|
NM_001999.4(FBN2):c.953-10C>T
|
rs2127000191
|
|
|
NM_001999.4(FBN2):c.953-14C>T
|
|
|
|
NM_001999.4(FBN2):c.953-18_953-16del
|
|
|
|
NM_001999.4(FBN2):c.953-9del
|
rs757659311
|
|
|
NM_001999.4(FBN2):c.960T>C (p.Asp320=)
|
rs1581270421
|
|
|
NM_001999.4(FBN2):c.969C>T (p.Ser323=)
|
rs1554067083
|
|
|
NM_002334.4(LRP4):c.1026C>T (p.Asp342=)
|
|
|
|
NM_002334.4(LRP4):c.1029A>G (p.Glu343=)
|
rs761739869
|
|
|
NM_002334.4(LRP4):c.1048+13A>G
|
|
|
|
NM_002334.4(LRP4):c.1049-10G>C
|
rs2134853583
|
|
|
NM_002334.4(LRP4):c.1049-20C>T
|
|
|
|
NM_002334.4(LRP4):c.1074C>T (p.Cys358=)
|
|
|
|
NM_002334.4(LRP4):c.1095T>C (p.Cys365=)
|
|
|
|
NM_002334.4(LRP4):c.1146A>G (p.Thr382=)
|
rs2134853133
|
|
|
NM_002334.4(LRP4):c.1176G>A (p.Thr392=)
|
|
|
|
NM_002334.4(LRP4):c.1184-18C>T
|
|
|
|
NM_002334.4(LRP4):c.1184-5C>T
|
|
|
|
NM_002334.4(LRP4):c.1218C>T (p.Ser406=)
|
rs2134851406
|
|
|
NM_002334.4(LRP4):c.1236C>T (p.Ser412=)
|
|
|
|
NM_002334.4(LRP4):c.1302G>A (p.Lys434=)
|
|
|
|
NM_002334.4(LRP4):c.1306C>T (p.Leu436=)
|
rs368827270
|
|
|
NM_002334.4(LRP4):c.1317G>A (p.Glu439=)
|
|
|
|
NM_002334.4(LRP4):c.1320T>C (p.Pro440=)
|
|
|
|
NM_002334.4(LRP4):c.1341C>T (p.Arg447=)
|
|
|
|
NM_002334.4(LRP4):c.135C>T (p.Ile45=)
|
|
|
|
NM_002334.4(LRP4):c.1371C>A (p.Arg457=)
|
|
|
|
NM_002334.4(LRP4):c.1503C>T (p.Asn501=)
|
|
|
|
NM_002334.4(LRP4):c.1509G>A (p.Glu503=)
|
|
|
|
NM_002334.4(LRP4):c.1540+13G>A
|
|
|
|
NM_002334.4(LRP4):c.1540+17C>A
|
|
|
|
NM_002334.4(LRP4):c.1540+18A>G
|
|
|
|
NM_002334.4(LRP4):c.1540+9C>T
|
|
|
|
NM_002334.4(LRP4):c.1541-16T>C
|
|
|
|
NM_002334.4(LRP4):c.1542G>T (p.Gly514=)
|
|
|
|
NM_002334.4(LRP4):c.1546C>T (p.Leu516=)
|
rs1592539185
|
|
|
NM_002334.4(LRP4):c.1584C>A (p.Thr528=)
|
rs574108233
|
|
|
NM_002334.4(LRP4):c.1626G>A (p.Gly542=)
|
|
|
|
NM_002334.4(LRP4):c.1629C>T (p.Ala543=)
|
|
|
|
NM_002334.4(LRP4):c.1697+19T>C
|
|
|
|
NM_002334.4(LRP4):c.1755T>C (p.Asp585=)
|
|
|
|
NM_002334.4(LRP4):c.1758C>T (p.Gly586=)
|
|
|
|
NM_002334.4(LRP4):c.1764A>G (p.Gly588=)
|
|
|
|
NM_002334.4(LRP4):c.1803T>C (p.Asn601=)
|
|
|
|
NM_002334.4(LRP4):c.1833T>C (p.Arg611=)
|
|
|
|
NM_002334.4(LRP4):c.183C>T (p.Ser61=)
|
|
|
|
NM_002334.4(LRP4):c.1854G>A (p.Lys618=)
|
|
|
|
NM_002334.4(LRP4):c.1915+8C>A
|
|
|
|
NM_002334.4(LRP4):c.1920C>T (p.Leu640=)
|
|
|
|
NM_002334.4(LRP4):c.1953C>T (p.Asp651=)
|
|
|
|
NM_002334.4(LRP4):c.1980C>A (p.Thr660=)
|
|
|
|
NM_002334.4(LRP4):c.199+12C>T
|
|
|
|
NM_002334.4(LRP4):c.1995C>T (p.Ser665=)
|
|
|
|
NM_002334.4(LRP4):c.200-26TTTTC[2]
|
rs760673637
|
|
|
NM_002334.4(LRP4):c.200-26TTTTC[4]
|
|
|
|
NM_002334.4(LRP4):c.2001C>T (p.Asn667=)
|
|
|
|
NM_002334.4(LRP4):c.2028C>A (p.Ile676=)
|
|
|
|
NM_002334.4(LRP4):c.2028C>T (p.Ile676=)
|
rs1941385384
|
|
|
NM_002334.4(LRP4):c.2043C>G (p.Leu681=)
|
|
|
|
NM_002334.4(LRP4):c.2073C>T (p.His691=)
|
|
|
|
NM_002334.4(LRP4):c.2092+12C>T
|
|
|
|
NM_002334.4(LRP4):c.2092+18G>A
|
|
|
|
NM_002334.4(LRP4):c.2092+20G>C
|
|
|
|
NM_002334.4(LRP4):c.2093-19C>T
|
rs1181290875
|
|
|
NM_002334.4(LRP4):c.2130G>A (p.Thr710=)
|
rs199674492
|
|
|
NM_002334.4(LRP4):c.2142G>T (p.Leu714=)
|
|
|
|
NM_002334.4(LRP4):c.2175C>T (p.Pro725=)
|
rs369705661
|
|
|
NM_002334.4(LRP4):c.2178T>G (p.Thr726=)
|
rs1941371842
|
|
|
NM_002334.4(LRP4):c.2216-18C>T
|
|
|
|
NM_002334.4(LRP4):c.2216-20C>A
|
|
|
|
NM_002334.4(LRP4):c.225C>T (p.Asp75=)
|
rs1023732809
|
|
|
NM_002334.4(LRP4):c.2286G>T (p.Leu762=)
|
|
|
|
NM_002334.4(LRP4):c.2307G>A (p.Leu769=)
|
|
|
|
NM_002334.4(LRP4):c.2337C>T (p.Asp779=)
|
|
|
|
NM_002334.4(LRP4):c.2370A>G (p.Thr790=)
|
|
|
|
NM_002334.4(LRP4):c.2425-19A>G
|
rs2134827879
|
|
|
NM_002334.4(LRP4):c.2425-6G>T
|
rs1592532832
|
|
|
NM_002334.4(LRP4):c.2442T>C (p.Ser814=)
|
rs2134827694
|
|
|
NM_002334.4(LRP4):c.2493C>T (p.Tyr831=)
|
rs2134827587
|
|
|
NM_002334.4(LRP4):c.2506+8T>C
|
|
|
|
NM_002334.4(LRP4):c.2592C>T (p.Ile864=)
|
|
|
|
NM_002334.4(LRP4):c.2612+12C>T
|
|
|
|
NM_002334.4(LRP4):c.2612+15C>T
|
rs926960884
|
|
|
NM_002334.4(LRP4):c.2613-11C>A
|
|
|
|
NM_002334.4(LRP4):c.2613-11_2613-7dup
|
|
|
|
NM_002334.4(LRP4):c.276G>A (p.Gly92=)
|
|
|
|
NM_002334.4(LRP4):c.2794C>T (p.Leu932=)
|
|
|
|
NM_002334.4(LRP4):c.2814+10del
|
rs534937304
|
|
|
NM_002334.4(LRP4):c.2814+17_2814+39del
|
|
|
|
NM_002334.4(LRP4):c.2814+9G>A
|
|
|
|
NM_002334.4(LRP4):c.2815-16G>A
|
rs1941096408
|
|
|
NM_002334.4(LRP4):c.2815-20_2815-17dup
|
|
|
|
NM_002334.4(LRP4):c.2835C>A (p.Leu945=)
|
|
|
|
NM_002334.4(LRP4):c.2835C>G (p.Leu945=)
|
rs201362411
|
|
|
NM_002334.4(LRP4):c.2895C>G (p.Thr965=)
|
|
|
|
NM_002334.4(LRP4):c.2919G>T (p.Arg973=)
|
|
|
|
NM_002334.4(LRP4):c.2928G>T (p.Gly976=)
|
|
|
|
NM_002334.4(LRP4):c.2958G>A (p.Leu986=)
|
rs541593593
|
|
|
NM_002334.4(LRP4):c.2979T>C (p.His993=)
|
|
|
|
NM_002334.4(LRP4):c.3004+13T>C
|
|
|
|
NM_002334.4(LRP4):c.3004+14G>C
|
|
|
|
NM_002334.4(LRP4):c.3004+18C>T
|
rs2306028
|
|
|
NM_002334.4(LRP4):c.3004+19G>A
|
|
|
|
NM_002334.4(LRP4):c.3005-12C>T
|
|
|
|
NM_002334.4(LRP4):c.3005-4C>T
|
|
|
|
NM_002334.4(LRP4):c.3009T>C (p.Ser1003=)
|
|
|
|
NM_002334.4(LRP4):c.3045C>T (p.His1015=)
|
rs2134807034
|
|
|
NM_002334.4(LRP4):c.306G>A (p.Glu102=)
|
|
|
|
NM_002334.4(LRP4):c.3136+16A>G
|
|
|
|
NM_002334.4(LRP4):c.3137-13C>T
|
|
|
|
NM_002334.4(LRP4):c.3137-15del
|
rs2134802550
|
|
|
NM_002334.4(LRP4):c.3137-4G>A
|
|
|
|
NM_002334.4(LRP4):c.3137-4G>C
|
|
|
|
NM_002334.4(LRP4):c.3150C>T (p.Phe1050=)
|
rs2134802462
|
|
|
NM_002334.4(LRP4):c.317-12C>G
|
|
|
|
NM_002334.4(LRP4):c.317-19G>A
|
|
|
|
NM_002334.4(LRP4):c.3216G>A (p.Val1072=)
|
|
|
|
NM_002334.4(LRP4):c.3222A>C (p.Val1074=)
|
|
|
|
NM_002334.4(LRP4):c.3228C>T (p.Ile1076=)
|
|
|
|
NM_002334.4(LRP4):c.3278-8C>T
|
rs1941033938
|
|
|
NM_002334.4(LRP4):c.3333T>C (p.Asp1111=)
|
|
|
|
NM_002334.4(LRP4):c.3364+11C>T
|
|
|
|
NM_002334.4(LRP4):c.3364+17G>T
|
|
|
|
NM_002334.4(LRP4):c.3384G>C (p.Gly1128=)
|
|
|
|
NM_002334.4(LRP4):c.3387C>T (p.Leu1129=)
|
rs2134800312
|
|
|
NM_002334.4(LRP4):c.33C>T (p.Gly11=)
|
|
|
|
NM_002334.4(LRP4):c.3528T>C (p.His1176=)
|
|
|
|
NM_002334.4(LRP4):c.3536+11_3536+12delinsAA
|
rs2134799662
|
|
|
NM_002334.4(LRP4):c.3536+18C>T
|
|
|
|
NM_002334.4(LRP4):c.3597C>T (p.Gly1199=)
|
|
|
|
NM_002334.4(LRP4):c.3606C>T (p.Arg1202=)
|
|
|
|
NM_002334.4(LRP4):c.3673C>T (p.Leu1225=)
|
|
|
|
NM_002334.4(LRP4):c.3684C>T (p.Ala1228=)
|
|
|
|
NM_002334.4(LRP4):c.3696C>T (p.Thr1232=)
|
|
|
|
NM_002334.4(LRP4):c.3699+13T>C
|
|
|
|
NM_002334.4(LRP4):c.3699+19C>T
|
|
|
|
NM_002334.4(LRP4):c.3699+8C>T
|
|
|
|
NM_002334.4(LRP4):c.3699+9C>A
|
|
|
|
NM_002334.4(LRP4):c.3699+9C>T
|
|
|
|
NM_002334.4(LRP4):c.3700-10T>C
|
rs975882066
|
|
|
NM_002334.4(LRP4):c.3705T>C (p.Ile1235=)
|
|
|
|
NM_002334.4(LRP4):c.3708G>A (p.Glu1236=)
|
rs2134797059
|
|
|
NM_002334.4(LRP4):c.3765A>G (p.Pro1255=)
|
|
|
|
NM_002334.4(LRP4):c.3780G>T (p.Leu1260=)
|
|
|
|
NM_002334.4(LRP4):c.378G>T (p.Leu126=)
|
|
|
|
NM_002334.4(LRP4):c.3864C>T (p.Leu1288=)
|
|
|
|
NM_002334.4(LRP4):c.3926-17G>A
|
|
|
|
NM_002334.4(LRP4):c.3926-5A>G
|
|
|
|
NM_002334.4(LRP4):c.4032T>C (p.Asp1344=)
|
rs2134794190
|
|
|
NM_002334.4(LRP4):c.4050C>G (p.Pro1350=)
|
rs2134794079
|
|
|
NM_002334.4(LRP4):c.408C>T (p.Gly136=)
|
|
|
|
NM_002334.4(LRP4):c.4125C>T (p.Thr1375=)
|
rs371098163
|
|
|
NM_002334.4(LRP4):c.4149G>A (p.Glu1383=)
|
rs1181126034
|
|
|
NM_002334.4(LRP4):c.4182C>T (p.Ser1394=)
|
|
|
|
NM_002334.4(LRP4):c.4197C>G (p.Val1399=)
|
|
|
|
NM_002334.4(LRP4):c.4229+11C>T
|
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|
|
NM_002334.4(LRP4):c.4229+15G>A
|
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|
|
NM_002334.4(LRP4):c.4229+20C>G
|
|
|
|
NM_002334.4(LRP4):c.4230-10T>C
|
rs1940930151
|
|
|
NM_002334.4(LRP4):c.4230-12G>A
|
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|
|
NM_002334.4(LRP4):c.4278G>A (p.Gly1426=)
|
rs1940926502
|
|
|
NM_002334.4(LRP4):c.431-3del
|
rs562071882
|
|
|
NM_002334.4(LRP4):c.431-9T>A
|
rs1941620373
|
|
|
NM_002334.4(LRP4):c.4320G>A (p.Arg1440=)
|
|
|
|
NM_002334.4(LRP4):c.4422G>A (p.Arg1474=)
|
|
|
|
NM_002334.4(LRP4):c.4485G>A (p.Lys1495=)
|
|
|
|
NM_002334.4(LRP4):c.4557C>A (p.Gly1519=)
|
|
|
|
NM_002334.4(LRP4):c.4563C>T (p.Thr1521=)
|
|
|
|
NM_002334.4(LRP4):c.4584-14_4584-10del
|
rs748959880
|
|
|
NM_002334.4(LRP4):c.4584-16_4584-15del
|
rs768340393
|
|
|
NM_002334.4(LRP4):c.4602G>A (p.Ala1534=)
|
|
|
|
NM_002334.4(LRP4):c.4693-11C>T
|
rs1409382852
|
|
|
NM_002334.4(LRP4):c.4693-12C>G
|
|
|
|
NM_002334.4(LRP4):c.4693-12C>T
|
|
|
|
NM_002334.4(LRP4):c.4693-16T>C
|
rs2134778241
|
|
|
NM_002334.4(LRP4):c.4728C>T (p.Thr1576=)
|
rs200270681
|
|
|
NM_002334.4(LRP4):c.4737C>A (p.Ile1579=)
|
|
|
|
NM_002334.4(LRP4):c.4837+8C>G
|
rs1243774066
|
|
|
NM_002334.4(LRP4):c.4838-8G>A
|
|
|
|
NM_002334.4(LRP4):c.4839G>A (p.Gly1613=)
|
rs2134776744
|
|
|
NM_002334.4(LRP4):c.489G>A (p.Glu163=)
|
rs1941618309
|
|
|
NM_002334.4(LRP4):c.4952-10T>C
|
|
|
|
NM_002334.4(LRP4):c.4952-17T>C
|
|
|
|
NM_002334.4(LRP4):c.4952-19A>G
|
rs772798728
|
|
|
NM_002334.4(LRP4):c.4952-20C>A
|
|
|
|
NM_002334.4(LRP4):c.5016C>A (p.Pro1672=)
|
rs2134774940
|
|
|
NM_002334.4(LRP4):c.5049C>T (p.Thr1683=)
|
|
|
|
NM_002334.4(LRP4):c.507T>A (p.Gly169=)
|
rs2134863376
|
|
|
NM_002334.4(LRP4):c.5087+12C>T
|
|
|
|
NM_002334.4(LRP4):c.5087+13A>G
|
|
|
|
NM_002334.4(LRP4):c.5087+14A>T
|
rs376251083
|
|
|
NM_002334.4(LRP4):c.5088-6C>T
|
|
|
|
NM_002334.4(LRP4):c.5110C>T (p.Leu1704=)
|
|
|
|
NM_002334.4(LRP4):c.5136C>T (p.Asp1712=)
|
|
|
|
NM_002334.4(LRP4):c.513C>T (p.Thr171=)
|
|
|
|
NM_002334.4(LRP4):c.5155+16C>T
|
|
|
|
NM_002334.4(LRP4):c.5155+20C>G
|
|
|
|
NM_002334.4(LRP4):c.5156-11A>G
|
|
|
|
NM_002334.4(LRP4):c.5244-6C>T
|
|
|
|
NM_002334.4(LRP4):c.5265T>G (p.Thr1755=)
|
|
|
|
NM_002334.4(LRP4):c.5298C>T (p.Asn1766=)
|
rs2134760244
|
|
|
NM_002334.4(LRP4):c.53-12C>G
|
|
|
|
NM_002334.4(LRP4):c.53-15T>C
|
|
|
|
NM_002334.4(LRP4):c.53-6G>A
|
|
|
|
NM_002334.4(LRP4):c.5307C>T (p.Tyr1769=)
|
|
|
|
NM_002334.4(LRP4):c.5308C>A (p.Arg1770=)
|
|
|
|
NM_002334.4(LRP4):c.5316C>T (p.Ser1772=)
|
rs750830696
|
|
|
NM_002334.4(LRP4):c.5319A>G (p.Thr1773=)
|
|
|
|
NM_002334.4(LRP4):c.5386-4C>G
|
|
|
|
NM_002334.4(LRP4):c.5409C>T (p.Thr1803=)
|
|
|
|
NM_002334.4(LRP4):c.547+14G>A
|
|
|
|
NM_002334.4(LRP4):c.547+14G>C
|
rs1243797516
|
|
|
NM_002334.4(LRP4):c.548-19A>T
|
|
|
|
NM_002334.4(LRP4):c.5493C>T (p.Ser1831=)
|
rs911721294
|
|
|
NM_002334.4(LRP4):c.5499G>C (p.Arg1833=)
|
rs2134750971
|
|
|
NM_002334.4(LRP4):c.5505C>G (p.Gly1835=)
|
|
|
|
NM_002334.4(LRP4):c.5508C>T (p.Leu1836=)
|
|
|
|
NM_002334.4(LRP4):c.5532G>A (p.Lys1844=)
|
|
|
|
NM_002334.4(LRP4):c.5538C>T (p.Asp1846=)
|
|
|
|
NM_002334.4(LRP4):c.5541G>T (p.Thr1847=)
|
|
|
|
NM_002334.4(LRP4):c.5550C>T (p.Ile1850=)
|
|
|
|
NM_002334.4(LRP4):c.5610G>A (p.Gln1870=)
|
|
|
|
NM_002334.4(LRP4):c.5613T>C (p.Ser1871=)
|
|
|
|
NM_002334.4(LRP4):c.5715C>G (p.Val1905=)
|
rs2134750322
|
|
|
NM_002334.4(LRP4):c.591G>A (p.Gln197=)
|
rs1199299804
|
|
|
NM_002334.4(LRP4):c.600T>C (p.Tyr200=)
|
|
|
|
NM_002334.4(LRP4):c.624C>T (p.Tyr208=)
|
|
|
|
NM_002334.4(LRP4):c.677-13T>C
|
|
|
|
NM_002334.4(LRP4):c.677-6C>T
|
|
|
|
NM_002334.4(LRP4):c.677-7T>G
|
rs1244833731
|
|
|
NM_002334.4(LRP4):c.69C>G (p.Pro23=)
|
|
|
|
NM_002334.4(LRP4):c.69C>T (p.Pro23=)
|
rs370359994
|
|
|
NM_002334.4(LRP4):c.708C>T (p.Phe236=)
|
rs2134861393
|
|
|
NM_002334.4(LRP4):c.717C>T (p.Asp239=)
|
|
|
|
NM_002334.4(LRP4):c.762G>A (p.Ala254=)
|
|
|
|
NM_002334.4(LRP4):c.774C>T (p.Asp258=)
|
rs2134861192
|
|
|
NM_002334.4(LRP4):c.786G>A (p.Glu262=)
|
|
|
|
NM_002334.4(LRP4):c.796+18A>T
|
|
|
|
NM_002334.4(LRP4):c.796+20T>C
|
|
|
|
NM_002334.4(LRP4):c.796+7G>A
|
|
|
|
NM_002334.4(LRP4):c.798C>T (p.Thr266=)
|
rs2134856058
|
|
|
NM_002334.4(LRP4):c.873G>A (p.Gly291=)
|
|
|
|
NM_002334.4(LRP4):c.879C>T (p.Asp293=)
|
|
|
|
NM_002334.4(LRP4):c.897C>T (p.Ser299=)
|
|
|
|
NM_002334.4(LRP4):c.922+13G>C
|
|
|
|
NM_002334.4(LRP4):c.923-11C>T
|
|
|
|
NM_002334.4(LRP4):c.923-14del
|
|
|
|
NM_002334.4(LRP4):c.923-8C>T
|
|
|
|
NM_002334.4(LRP4):c.996C>T (p.Asn332=)
|
|
|
|
NM_002968.2(SALL1):c.76+10C>G
|
rs758439424
|
|
|
NM_002968.3(SALL1):c.1030T>C (p.Leu344=)
|
|
|
|
NM_002968.3(SALL1):c.1135G>T (p.Ala379Ser)
|
|
|
|
NM_002968.3(SALL1):c.1199C>T (p.Ser400Leu)
|
|
|
|
NM_002968.3(SALL1):c.1225A>G (p.Ile409Val)
|
|
|
|
NM_002968.3(SALL1):c.1350G>A (p.Lys450=)
|
|
|
|
NM_002968.3(SALL1):c.1362C>T (p.Cys454=)
|
|
|
|
NM_002968.3(SALL1):c.1566G>A (p.Thr522=)
|
|
|
|
NM_002968.3(SALL1):c.1665C>T (p.Val555=)
|
rs201565524
|
|
|
NM_002968.3(SALL1):c.1716G>A (p.Thr572=)
|
|
|
|
NM_002968.3(SALL1):c.1728C>A (p.Ala576=)
|
|
|
|
NM_002968.3(SALL1):c.1854A>G (p.Pro618=)
|
rs2143444187
|
|
|
NM_002968.3(SALL1):c.1871G>A (p.Ser624Asn)
|
|
|
|
NM_002968.3(SALL1):c.2046A>G (p.Ser682=)
|
|
|
|
NM_002968.3(SALL1):c.2070G>A (p.Lys690=)
|
|
|
|
NM_002968.3(SALL1):c.2105C>T (p.Ala702Val)
|
|
|
|
NM_002968.3(SALL1):c.2181A>G (p.Thr727=)
|
rs1962388882
|
|
|
NM_002968.3(SALL1):c.2356C>A (p.Arg786=)
|
|
|
|
NM_002968.3(SALL1):c.2436C>A (p.Ser812=)
|
|
|
|
NM_002968.3(SALL1):c.243A>C (p.Pro81=)
|
|
|
|
NM_002968.3(SALL1):c.2460C>T (p.Asp820=)
|
|
|
|
NM_002968.3(SALL1):c.246C>T (p.Pro82=)
|
|
|
|
NM_002968.3(SALL1):c.2504G>A (p.Gly835Asp)
|
|
|
|
NM_002968.3(SALL1):c.2511C>A (p.Ile837=)
|
|
|
|
NM_002968.3(SALL1):c.2535C>T (p.Asp845=)
|
|
|
|
NM_002968.3(SALL1):c.2589C>T (p.Ile863=)
|
|
|
|
NM_002968.3(SALL1):c.2643A>G (p.Leu881=)
|
|
|
|
NM_002968.3(SALL1):c.2742T>C (p.Ala914=)
|
|
|
|
NM_002968.3(SALL1):c.2793G>A (p.Pro931=)
|
|
|
|
NM_002968.3(SALL1):c.2798_2803dup (p.Asn933_Ser934dup)
|
rs760807997
|
|
|
NM_002968.3(SALL1):c.2805G>A (p.Thr935=)
|
|
|
|
NM_002968.3(SALL1):c.2870C>G (p.Ala957Gly)
|
|
|
|
NM_002968.3(SALL1):c.3180C>T (p.Leu1060=)
|
|
|
|
NM_002968.3(SALL1):c.3322G>C (p.Val1108Leu)
|
rs148931484
|
|
|
NM_002968.3(SALL1):c.3537A>G (p.Val1179=)
|
|
|
|
NM_002968.3(SALL1):c.359A>T (p.Asp120Val)
|
|
|
|
NM_002968.3(SALL1):c.3630C>T (p.Pro1210=)
|
|
|
|
NM_002968.3(SALL1):c.3666G>A (p.Ala1222=)
|
|
|
|
NM_002968.3(SALL1):c.3801C>T (p.Leu1267=)
|
|
|
|
NM_002968.3(SALL1):c.389C>T (p.Pro130Leu)
|
rs576713482
|
|
|
NM_002968.3(SALL1):c.3963C>T (p.Ile1321=)
|
|
|
|
NM_002968.3(SALL1):c.3966C>T (p.Val1322=)
|
|
|
|
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del)
|
rs113614842
|
|
|
NM_002968.3(SALL1):c.448AGC[8] (p.Ser158_Ser159del)
|
|
|
|
NM_002968.3(SALL1):c.45C>T (p.Asp15=)
|
|
|
|
NM_002968.3(SALL1):c.471C>T (p.Ser157=)
|
rs1314370026
|
|
|
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup)
|
rs1555475414
|
|
|
NM_002968.3(SALL1):c.548C>A (p.Thr183Lys)
|
rs1417997778
|
|
|
NM_002968.3(SALL1):c.549A>G (p.Thr183=)
|
|
|
|
NM_002968.3(SALL1):c.567C>G (p.Ser189=)
|
|
|
|
NM_002968.3(SALL1):c.648C>T (p.Cys216=)
|
|
|
|
NM_002968.3(SALL1):c.651C>T (p.Gly217=)
|
|
|
|
NM_002968.3(SALL1):c.662G>A (p.Gly221Glu)
|
|
|
|
NM_002968.3(SALL1):c.663G>C (p.Gly221=)
|
|
|
|
NM_002968.3(SALL1):c.76+15C>A
|
|
|
|
NM_002968.3(SALL1):c.77-5T>A
|
|
|
|
NM_002968.3(SALL1):c.801T>C (p.Ser267=)
|
|
|
|
NM_002968.3(SALL1):c.819T>A (p.Gly273=)
|
|
|
|
NM_002968.3(SALL1):c.855A>G (p.Leu285=)
|
rs762324270
|
|
|
NM_002968.3(SALL1):c.9G>A (p.Arg3=)
|
|
|
|
NM_003289.4(TPM2):c.114+10G>A
|
rs1416639797
|
|
|
NM_003289.4(TPM2):c.115-14C>A
|
|
|
|
NM_003289.4(TPM2):c.115-16G>A
|
|
|
|
NM_003289.4(TPM2):c.115-5C>T
|
rs1587966246
|
|
|
NM_003289.4(TPM2):c.180T>C (p.Tyr60=)
|
rs1281970248
|
|
|
NM_003289.4(TPM2):c.189C>T (p.Ser63=)
|
|
|
|
NM_003289.4(TPM2):c.240+15G>T
|
|
|
|
NM_003289.4(TPM2):c.241-14C>T
|
|
|
|
NM_003289.4(TPM2):c.241-5C>T
|
rs372898802
|
|
|
NM_003289.4(TPM2):c.306C>T (p.Ala102=)
|
|
|
|
NM_003289.4(TPM2):c.318G>A (p.Leu106=)
|
rs2131853365
|
|
|
NM_003289.4(TPM2):c.374+16G>C
|
|
|
|
NM_003289.4(TPM2):c.375-11C>T
|
|
|
|
NM_003289.4(TPM2):c.375-13C>T
|
|
|
|
NM_003289.4(TPM2):c.375-15C>T
|
rs2131852823
|
|
|
NM_003289.4(TPM2):c.426A>G (p.Glu142=)
|
rs374856808
|
|
|
NM_003289.4(TPM2):c.432G>A (p.Gln144=)
|
|
|
|
NM_003289.4(TPM2):c.493-11_493-8del
|
rs528068364
|
|
|
NM_003289.4(TPM2):c.493-7C>T
|
rs1554658928
|
|
|
NM_003289.4(TPM2):c.507G>A (p.Leu169=)
|
|
|
|
NM_003289.4(TPM2):c.555G>A (p.Val185=)
|
rs1587957884
|
|
|
NM_003289.4(TPM2):c.563+13G>A
|
|
|
|
NM_003289.4(TPM2):c.563+13G>T
|
|
|
|
NM_003289.4(TPM2):c.564-18G>C
|
rs756207778
|
|
|
NM_003289.4(TPM2):c.564-19C>T
|
|
|
|
NM_003289.4(TPM2):c.564-19_564-18insT
|
|
|
|
NM_003289.4(TPM2):c.564-20C>T
|
|
|
|
NM_003289.4(TPM2):c.564-20_564-19insT
|
|
|
|
NM_003289.4(TPM2):c.589C>T (p.Leu197=)
|
rs2131849835
|
|
|
NM_003289.4(TPM2):c.619C>T (p.Leu207=)
|
|
|
|
NM_003289.4(TPM2):c.627C>G (p.Ala209=)
|
rs2131849764
|
|
|
NM_003289.4(TPM2):c.639+16G>A
|
|
|
|
NM_003289.4(TPM2):c.640-17G>C
|
|
|
|
NM_003289.4(TPM2):c.640-19GT[6]
|
rs1824762591
|
|
|
NM_003289.4(TPM2):c.640-20C>A
|
|
|
|
NM_003289.4(TPM2):c.640-9C>T
|
rs1661588104
|
|
|
NM_003289.4(TPM2):c.663T>C (p.Tyr221=)
|
rs1465836003
|
|
|
NM_003289.4(TPM2):c.669G>A (p.Glu223=)
|
rs148003612
|
|
|
NM_003289.4(TPM2):c.66C>G (p.Ala22=)
|
|
|
|
NM_003289.4(TPM2):c.672G>A (p.Glu224=)
|
|
|
|
NM_003289.4(TPM2):c.69G>A (p.Glu23=)
|
rs2131865690
|
|
|
NM_003289.4(TPM2):c.702+17A>C
|
|
|
|
NM_003289.4(TPM2):c.703-3dup
|
rs1554658707
|
|
|
NM_003289.4(TPM2):c.703-5C>T
|
|
|
|
NM_003289.4(TPM2):c.703-9T>C
|
rs2131848760
|
|
|
NM_003289.4(TPM2):c.729G>A (p.Glu243=)
|
rs751675623
|
|
|
NM_003289.4(TPM2):c.735T>A (p.Ser245=)
|
|
|
|
NM_003289.4(TPM2):c.747G>A (p.Leu249=)
|
rs1431432489
|
|
|
NM_003289.4(TPM2):c.75C>T (p.Ala25=)
|
|
|
|
NM_003289.4(TPM2):c.773-10_773-9insCG
|
rs1554658504
|
|
|
NM_003289.4(TPM2):c.773-11dup
|
|
|
|
NM_003289.4(TPM2):c.773-15C>T
|
|
|
|
NM_003289.4(TPM2):c.773-5_773-4insT
|
|
|
|
NM_003289.4(TPM2):c.773-7_773-6insCG
|
|
|
|
NM_003289.4(TPM2):c.773-9C>A
|
|
|
|
NM_003289.4(TPM2):c.773-9_773-8insA
|
rs756328776
|
|
|
NM_003289.4(TPM2):c.773-9_773-8insCA
|
rs1554658503
|
|
|
NM_003289.4(TPM2):c.773-9_773-8insG
|
rs756328776
|
|
|
NM_003289.4(TPM2):c.816G>A (p.Glu272=)
|
|
|
|
NM_003289.4(TPM2):c.81C>A (p.Ala27=)
|
rs564977715
|
|
|
NM_003289.4(TPM2):c.81C>T (p.Ala27=)
|
rs564977715
|
|
|
NM_003334.4(UBA1):c.1038A>G (p.Pro346=)
|
rs1936453717
|
|
|
NM_003334.4(UBA1):c.1041T>A (p.Pro347=)
|
rs2147259947
|
|
|
NM_003334.4(UBA1):c.1056+20A>G
|
|
|
|
NM_003334.4(UBA1):c.118-10C>G
|
|
|
|
NM_003334.4(UBA1):c.1194C>T (p.Asn398=)
|
rs782489931
|
|
|
NM_003334.4(UBA1):c.1218C>T (p.Ala406=)
|
rs2147261112
|
|
|
NM_003334.4(UBA1):c.1233+15G>A
|
|
|
|
NM_003334.4(UBA1):c.1234-18C>T
|
|
|
|
NM_003334.4(UBA1):c.1234-19_1234-16del
|
|
|
|
NM_003334.4(UBA1):c.1278T>C (p.Phe426=)
|
|
|
|
NM_003334.4(UBA1):c.1281T>C (p.Asp427=)
|
rs2147261868
|
|
|
NM_003334.4(UBA1):c.1338+15C>T
|
|
|
|
NM_003334.4(UBA1):c.1339-17C>T
|
|
|
|
NM_003334.4(UBA1):c.1377C>T (p.Gly459=)
|
rs2147262470
|
|
|
NM_003334.4(UBA1):c.1392G>A (p.Glu464=)
|
|
|
|
NM_003334.4(UBA1):c.1420-18T>C
|
rs372944361
|
|
|
NM_003334.4(UBA1):c.1420-18T>G
|
rs372944361
|
|
|
NM_003334.4(UBA1):c.1420-5C>T
|
|
|
|
NM_003334.4(UBA1):c.1533A>G (p.Ser511=)
|
rs2147263778
|
|
|
NM_003334.4(UBA1):c.153C>T (p.Asp51=)
|
|
|
|
NM_003334.4(UBA1):c.1569T>C (p.Asp523=)
|
rs1602635564
|
|
|
NM_003334.4(UBA1):c.1575+9G>C
|
|
|
|
NM_003334.4(UBA1):c.1668G>A (p.Thr556=)
|
|
|
|
NM_003334.4(UBA1):c.1686C>T (p.Asp562=)
|
|
|
|
NM_003334.4(UBA1):c.1741+20A>G
|
|
|
|
NM_003334.4(UBA1):c.1742-19C>T
|
|
|
|
NM_003334.4(UBA1):c.1800A>G (p.Thr600=)
|
rs1233003223
|
|
|
NM_003334.4(UBA1):c.1920C>T (p.Ala640=)
|
|
|
|
NM_003334.4(UBA1):c.1923C>T (p.Ile641=)
|
|
|
|
NM_003334.4(UBA1):c.1939-10C>G
|
|
|
|
NM_003334.4(UBA1):c.1939-18T>C
|
|
|
|
NM_003334.4(UBA1):c.2003+11C>T
|
|
|
|
NM_003334.4(UBA1):c.2003+22_2003+23del
|
rs782114592
|
|
|
NM_003334.4(UBA1):c.2004-6T>C
|
|
|
|
NM_003334.4(UBA1):c.2094G>A (p.Gln698=)
|
rs1556792871
|
|
|
NM_003334.4(UBA1):c.2124C>T (p.Thr708=)
|
rs2147287638
|
|
|
NM_003334.4(UBA1):c.2130C>A (p.Ala710=)
|
rs782185391
|
|
|
NM_003334.4(UBA1):c.2169G>T (p.Arg723=)
|
|
|
|
NM_003334.4(UBA1):c.2199+17G>C
|
|
|
|
NM_003334.4(UBA1):c.2199+8C>T
|
|
|
|
NM_003334.4(UBA1):c.2247A>C (p.Pro749=)
|
|
|
|
NM_003334.4(UBA1):c.2247A>G (p.Pro749=)
|
|
|
|
NM_003334.4(UBA1):c.2250C>T (p.His750=)
|
|
|
|
NM_003334.4(UBA1):c.2274+10C>T
|
|
|
|
NM_003334.4(UBA1):c.2274+10_2274+14del
|
|
|
|
NM_003334.4(UBA1):c.2274+14C>G
|
|
|
|
NM_003334.4(UBA1):c.2274+14C>T
|
|
|
|
NM_003334.4(UBA1):c.2340C>T (p.Gly780=)
|
|
|
|
NM_003334.4(UBA1):c.2424T>C (p.His808=)
|
rs1936899956
|
|
|
NM_003334.4(UBA1):c.2433C>T (p.Asp811=)
|
|
|
|
NM_003334.4(UBA1):c.2465-5T>C
|
|
|
|
NM_003334.4(UBA1):c.246C>T (p.Gly82=)
|
rs782336458
|
|
|
NM_003334.4(UBA1):c.2484G>A (p.Glu828=)
|
|
|
|
NM_003334.4(UBA1):c.2554-6T>A
|
|
|
|
NM_003334.4(UBA1):c.2554-6_2554-5del
|
|
|
|
NM_003334.4(UBA1):c.2595A>T (p.Ala865=)
|
rs139492208
|
|
|
NM_003334.4(UBA1):c.2604C>G (p.Leu868=)
|
|
|
|
NM_003334.4(UBA1):c.2646+11T>C
|
rs367788670
|
|
|
NM_003334.4(UBA1):c.2646+19_2646+20del
|
|
|
|
NM_003334.4(UBA1):c.2647-9_2647-6del
|
rs1173482035
|
|
|
NM_003334.4(UBA1):c.264T>C (p.Ala88=)
|
|
|
|
NM_003334.4(UBA1):c.2679C>A (p.Ala893=)
|
|
|
|
NM_003334.4(UBA1):c.2685C>T (p.Ala895=)
|
|
|
|
NM_003334.4(UBA1):c.2700C>T (p.Ala900=)
|
|
|
|
NM_003334.4(UBA1):c.2745G>T (p.Gly915=)
|
rs2147297953
|
|
|
NM_003334.4(UBA1):c.2778C>T (p.Phe926=)
|
rs2147298051
|
|
|
NM_003334.4(UBA1):c.2793G>A (p.Leu931=)
|
rs782340410
|
|
|
NM_003334.4(UBA1):c.2838+16C>T
|
|
|
|
NM_003334.4(UBA1):c.2839-20C>A
|
|
|
|
NM_003334.4(UBA1):c.2839-4G>A
|
|
|
|
NM_003334.4(UBA1):c.2841C>T (p.Tyr947=)
|
|
|
|
NM_003334.4(UBA1):c.2859A>G (p.Thr953=)
|
|
|
|
NM_003334.4(UBA1):c.2889G>T (p.Leu963=)
|
rs2147303075
|
|
|
NM_003334.4(UBA1):c.2964C>G (p.Thr988=)
|
|
|
|
NM_003334.4(UBA1):c.3090C>T (p.His1030=)
|
|
|
|
NM_003334.4(UBA1):c.3135C>A (p.Gly1045=)
|
rs2147305266
|
|
|
NM_003334.4(UBA1):c.3138G>A (p.Glu1046=)
|
rs2147305287
|
|
|
NM_003334.4(UBA1):c.3144C>T (p.Val1048=)
|
|
|
|
NM_003334.4(UBA1):c.345+11C>T
|
|
|
|
NM_003334.4(UBA1):c.345+20T>C
|
|
|
|
NM_003334.4(UBA1):c.345+20_345+23del
|
|
|
|
NM_003334.4(UBA1):c.345+29_345+36del
|
|
|
|
NM_003334.4(UBA1):c.346-16C>T
|
|
|
|
NM_003334.4(UBA1):c.369C>T (p.Ile123=)
|
rs200892576
|
|
|
NM_003334.4(UBA1):c.384C>G (p.Ala128=)
|
rs782618684
|
|
|
NM_003334.4(UBA1):c.384C>T (p.Ala128=)
|
|
|
|
NM_003334.4(UBA1):c.405C>T (p.Leu135=)
|
|
|
|
NM_003334.4(UBA1):c.480+9G>A
|
|
|
|
NM_003334.4(UBA1):c.501C>T (p.Thr167=)
|
rs782020007
|
|
|
NM_003334.4(UBA1):c.540C>T (p.His180=)
|
rs1602629095
|
|
|
NM_003334.4(UBA1):c.574C>A (p.Arg192=)
|
rs185589110
|
|
|
NM_003334.4(UBA1):c.57G>A (p.Pro19=)
|
|
|
|
NM_003334.4(UBA1):c.588-13C>T
|
|
|
|
NM_003334.4(UBA1):c.588-20C>T
|
|
|
|
NM_003334.4(UBA1):c.588-4A>C
|
|
|
|
NM_003334.4(UBA1):c.588-7T>C
|
rs1428822064
|
|
|
NM_003334.4(UBA1):c.636T>C (p.Asn212=)
|
|
|
|
NM_003334.4(UBA1):c.679-16C>G
|
|
|
|
NM_003334.4(UBA1):c.72C>T (p.Ser24=)
|
|
|
|
NM_003334.4(UBA1):c.750T>C (p.Phe250=)
|
rs1936417887
|
|
|
NM_003334.4(UBA1):c.75T>G (p.Pro25=)
|
|
|
|
NM_003334.4(UBA1):c.786T>C (p.Asn262=)
|
|
|
|
NM_003334.4(UBA1):c.811+17G>A
|
|
|
|
NM_003334.4(UBA1):c.811+18G>C
|
rs2147257670
|
|
|
NM_003334.4(UBA1):c.822C>T (p.Thr274=)
|
|
|
|
NM_003334.4(UBA1):c.840C>G (p.Thr280=)
|
|
|
|
NM_003334.4(UBA1):c.840C>T (p.Thr280=)
|
rs1936439884
|
|
|
NM_003334.4(UBA1):c.843C>G (p.Ser281=)
|
|
|
|
NM_003334.4(UBA1):c.846C>T (p.Asn282=)
|
|
|
|
NM_003334.4(UBA1):c.84C>T (p.Ser28=)
|
rs782656395
|
|
|
NM_003334.4(UBA1):c.909+11C>T
|
|
|
|
NM_003334.4(UBA1):c.909+9G>T
|
|
|
|
NM_003334.4(UBA1):c.910-14T>C
|
rs782428315
|
|
|
NM_004380.3(CREBBP):c.1008C>A (p.Pro336=)
|
|
|
|
NM_004380.3(CREBBP):c.1032C>T (p.Pro344=)
|
rs1439239512
|
|
|
NM_004380.3(CREBBP):c.1092T>C (p.Ala364=)
|
|
|
|
NM_004380.3(CREBBP):c.1104G>A (p.Gln368=)
|
|
|
|
NM_004380.3(CREBBP):c.1119A>T (p.Ala373=)
|
|
|
|
NM_004380.3(CREBBP):c.1122C>T (p.Asn374=)
|
|
|
|
NM_004380.3(CREBBP):c.1146C>T (p.Leu382=)
|
|
|
|
NM_004380.3(CREBBP):c.1155T>C (p.Cys385=)
|
|
|
|
NM_004380.3(CREBBP):c.1161C>T (p.Thr387=)
|
|
|
|
NM_004380.3(CREBBP):c.1188G>A (p.Thr396=)
|
|
|
|
NM_004380.3(CREBBP):c.1217-16G>A
|
|
|
|
NM_004380.3(CREBBP):c.1217-17T>C
|
|
|
|
NM_004380.3(CREBBP):c.1217-19G>A
|
|
|
|
NM_004380.3(CREBBP):c.1217-20C>T
|
|
|
|
NM_004380.3(CREBBP):c.1217-4A>G
|
|
|
|
NM_004380.3(CREBBP):c.1217-7G>A
|
rs2053519519
|
|
|
NM_004380.3(CREBBP):c.1217-7G>T
|
|
|
|
NM_004380.3(CREBBP):c.1233T>C (p.Ser411=)
|
|
|
|
NM_004380.3(CREBBP):c.1330+16G>A
|
|
|
|
NM_004380.3(CREBBP):c.1331-12_1331-9del
|
rs765955245
|
|
|
NM_004380.3(CREBBP):c.1331-24CTGT[2]
|
|
|
|
NM_004380.3(CREBBP):c.1331-24CTGT[4]
|
|
|
|
NM_004380.3(CREBBP):c.1331-7G>A
|
|
|
|
NM_004380.3(CREBBP):c.1416C>T (p.Asn472=)
|
|
|
|
NM_004380.3(CREBBP):c.1455T>C (p.Tyr485=)
|
|
|
|
NM_004380.3(CREBBP):c.1493C>T (p.Thr498Met)
|
|
|
|
NM_004380.3(CREBBP):c.1500G>A (p.Leu500=)
|
|
|
|
NM_004380.3(CREBBP):c.1551G>A (p.Gln517=)
|
|
|
|
NM_004380.3(CREBBP):c.1557G>A (p.Arg519=)
|
|
|
|
NM_004380.3(CREBBP):c.1566C>T (p.Asn522=)
|
|
|
|
NM_004380.3(CREBBP):c.1574-14T>C
|
|
|
|
NM_004380.3(CREBBP):c.1574-15_1574-11del
|
|
|
|
NM_004380.3(CREBBP):c.1574-17C>A
|
|
|
|
NM_004380.3(CREBBP):c.1574-17C>G
|
|
|
|
NM_004380.3(CREBBP):c.1605A>C (p.Gly535=)
|
|
|
|
NM_004380.3(CREBBP):c.1614A>G (p.Thr538=)
|
|
|
|
NM_004380.3(CREBBP):c.1665G>T (p.Leu555=)
|
|
|
|
NM_004380.3(CREBBP):c.1676+11G>C
|
|
|
|
NM_004380.3(CREBBP):c.1676+13_1676+14insA
|
|
|
|
NM_004380.3(CREBBP):c.1676+9C>T
|
|
|
|
NM_004380.3(CREBBP):c.1677-13A>G
|
|
|
|
NM_004380.3(CREBBP):c.1677-18T>C
|
|
|
|
NM_004380.3(CREBBP):c.1677-4T>G
|
|
|
|
NM_004380.3(CREBBP):c.1750T>C (p.Ser584Pro)
|
|
|
|
NM_004380.3(CREBBP):c.175C>T (p.Leu59Phe)
|
|
|
|
NM_004380.3(CREBBP):c.1824-19_1824-16del
|
|
|
|
NM_004380.3(CREBBP):c.189T>C (p.Ala63=)
|
|
|
|
NM_004380.3(CREBBP):c.1941+11G>A
|
|
|
|
NM_004380.3(CREBBP):c.1941+8G>T
|
|
|
|
NM_004380.3(CREBBP):c.1942-11T>C
|
|
|
|
NM_004380.3(CREBBP):c.1942-13T>C
|
|
|
|
NM_004380.3(CREBBP):c.1942-5T>C
|
rs1482514446
|
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NM_004380.3(CREBBP):c.2013G>A (p.Ser671=)
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NM_004380.3(CREBBP):c.204A>G (p.Lys68=)
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NM_004380.3(CREBBP):c.2056C>A (p.Pro686Thr)
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NM_004380.3(CREBBP):c.2113+11T>C
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NM_004380.3(CREBBP):c.2113+13T>C
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NM_004380.3(CREBBP):c.2113+19A>G
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NM_004380.3(CREBBP):c.2113+20C>T
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NM_004380.3(CREBBP):c.2114-14T>C
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NM_004380.3(CREBBP):c.2114-5C>A
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NM_004380.3(CREBBP):c.213G>A (p.Ser71=)
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NM_004380.3(CREBBP):c.2158+14T>C
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NM_004380.3(CREBBP):c.2158+18G>A
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NM_004380.3(CREBBP):c.2158+19T>C
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NM_004380.3(CREBBP):c.2159-12G>A
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NM_004380.3(CREBBP):c.2159-15T>C
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NM_004380.3(CREBBP):c.2159-19G>A
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NM_004380.3(CREBBP):c.2159-20C>T
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NM_004380.3(CREBBP):c.2169A>T (p.Ser723=)
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NM_004380.3(CREBBP):c.2224C>T (p.Arg742Cys)
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NM_004380.3(CREBBP):c.222A>G (p.Leu74=)
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NM_004380.3(CREBBP):c.225A>C (p.Arg75=)
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NM_004380.3(CREBBP):c.2283+11T>C
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NM_004380.3(CREBBP):c.2283+16C>T
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NM_004380.3(CREBBP):c.2283+18C>G
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NM_004380.3(CREBBP):c.2284-5C>T
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NM_004380.3(CREBBP):c.2284-7C>T
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NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln)
|
rs754386072
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NM_004380.3(CREBBP):c.234C>T (p.Ser78=)
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NM_004380.3(CREBBP):c.235G>A (p.Gly79Ser)
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NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)
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NM_004380.3(CREBBP):c.2388G>A (p.Gln796=)
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NM_004380.3(CREBBP):c.2415G>C (p.Ala805=)
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NM_004380.3(CREBBP):c.2450C>T (p.Thr817Ile)
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NM_004380.3(CREBBP):c.2463+17G>A
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NM_004380.3(CREBBP):c.2464-17_2464-16del
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NM_004380.3(CREBBP):c.2464-19C>G
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NM_004380.3(CREBBP):c.2466A>G (p.Gly822=)
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NM_004380.3(CREBBP):c.246C>T (p.Ile82=)
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NM_004380.3(CREBBP):c.2497C>T (p.Leu833Phe)
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NM_004380.3(CREBBP):c.24A>G (p.Gly8=)
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NM_004380.3(CREBBP):c.2501A>G (p.Asn834Ser)
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NM_004380.3(CREBBP):c.2502C>T (p.Asn834=)
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NM_004380.3(CREBBP):c.2511G>T (p.Gly837=)
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NM_004380.3(CREBBP):c.2523C>T (p.Ser841=)
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NM_004380.3(CREBBP):c.252A>G (p.Pro84=)
|
rs727503893
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NM_004380.3(CREBBP):c.2537C>T (p.Pro846Leu)
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NM_004380.3(CREBBP):c.2556A>G (p.Pro852=)
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NM_004380.3(CREBBP):c.255A>G (p.Gly85=)
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NM_004380.3(CREBBP):c.2561A>C (p.His854Pro)
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NM_004380.3(CREBBP):c.2571G>A (p.Pro857=)
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NM_004380.3(CREBBP):c.2571G>T (p.Pro857=)
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NM_004380.3(CREBBP):c.2596A>G (p.Met866Val)
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NM_004380.3(CREBBP):c.2601A>G (p.Pro867=)
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NM_004380.3(CREBBP):c.2664A>G (p.Pro888=)
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NM_004380.3(CREBBP):c.2697C>T (p.Pro899=)
|
rs747968181
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NM_004380.3(CREBBP):c.2703G>A (p.Pro901=)
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NM_004380.3(CREBBP):c.2715A>G (p.Ser905=)
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NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser)
|
rs143247685
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NM_004380.3(CREBBP):c.273C>T (p.Ala91=)
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NM_004380.3(CREBBP):c.274A>G (p.Ser92Gly)
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NM_004380.3(CREBBP):c.2778G>T (p.Val926=)
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NM_004380.3(CREBBP):c.2783C>T (p.Pro928Leu)
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NM_004380.3(CREBBP):c.2788C>T (p.Pro930Ser)
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NM_004380.3(CREBBP):c.278G>A (p.Ser93Asn)
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NM_004380.3(CREBBP):c.282C>T (p.Pro94=)
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NM_004380.3(CREBBP):c.283G>A (p.Val95Met)
|
rs756802946
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NM_004380.3(CREBBP):c.2847G>A (p.Pro949=)
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NM_004380.3(CREBBP):c.2849C>A (p.Thr950Lys)
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NM_004380.3(CREBBP):c.2851C>A (p.Pro951Thr)
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NM_004380.3(CREBBP):c.2854G>T (p.Val952Leu)
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NM_004380.3(CREBBP):c.2880+17_2880+18del
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NM_004380.3(CREBBP):c.2881-14C>G
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NM_004380.3(CREBBP):c.2881-14C>T
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NM_004380.3(CREBBP):c.2881-17T>C
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NM_004380.3(CREBBP):c.2881-18C>A
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NM_004380.3(CREBBP):c.2881-4A>G
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NM_004380.3(CREBBP):c.2928C>T (p.Ser976=)
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NM_004380.3(CREBBP):c.2934G>T (p.Val978=)
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NM_004380.3(CREBBP):c.3003C>T (p.Thr1001=)
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NM_004380.3(CREBBP):c.3025G>T (p.Asp1009Tyr)
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NM_004380.3(CREBBP):c.3036A>T (p.Glu1012Asp)
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NM_004380.3(CREBBP):c.3061-12G>A
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NM_004380.3(CREBBP):c.3061-19C>G
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NM_004380.3(CREBBP):c.3061-6C>G
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NM_004380.3(CREBBP):c.309T>C (p.Ala103=)
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NM_004380.3(CREBBP):c.3129A>G (p.Ser1043=)
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NM_004380.3(CREBBP):c.3214T>G (p.Ser1072Ala)
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NM_004380.3(CREBBP):c.3219G>A (p.Gln1073=)
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NM_004380.3(CREBBP):c.3223A>G (p.Thr1075Ala)
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NM_004380.3(CREBBP):c.3234G>T (p.Ser1078=)
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NM_004380.3(CREBBP):c.3250+11T>C
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NM_004380.3(CREBBP):c.3250+15C>T
|
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NM_004380.3(CREBBP):c.3250+16A>T
|
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NM_004380.3(CREBBP):c.3251-13G>A
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NM_004380.3(CREBBP):c.3251-19C>T
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NM_004380.3(CREBBP):c.3251-8C>G
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NM_004380.3(CREBBP):c.3336G>A (p.Arg1112=)
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NM_004380.3(CREBBP):c.3370-10T>A
|
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NM_004380.3(CREBBP):c.3370-18C>A
|
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NM_004380.3(CREBBP):c.3384C>T (p.Ile1128=)
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NM_004380.3(CREBBP):c.3438A>G (p.Gln1146=)
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NM_004380.3(CREBBP):c.3468C>T (p.Asp1156=)
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NM_004380.3(CREBBP):c.346A>G (p.Ser116Gly)
|
rs587778211
|
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NM_004380.3(CREBBP):c.3516C>T (p.Ser1172=)
|
rs2151383343
|
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NM_004380.3(CREBBP):c.351C>T (p.Ala117=)
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NM_004380.3(CREBBP):c.3531T>C (p.Phe1177=)
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NM_004380.3(CREBBP):c.3573T>C (p.Pro1191=)
|
rs536159666
|
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NM_004380.3(CREBBP):c.3591A>T (p.Gly1197=)
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NM_004380.3(CREBBP):c.3609+20C>T
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NM_004380.3(CREBBP):c.3610-14C>T
|
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NM_004380.3(CREBBP):c.3615G>A (p.Glu1205=)
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NM_004380.3(CREBBP):c.3639C>T (p.Cys1213=)
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NM_004380.3(CREBBP):c.3698+11A>G
|
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NM_004380.3(CREBBP):c.3708C>T (p.Phe1236=)
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NM_004380.3(CREBBP):c.3729G>A (p.Glu1243=)
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NM_004380.3(CREBBP):c.375G>A (p.Gln125=)
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NM_004380.3(CREBBP):c.3765T>G (p.Pro1255=)
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NM_004380.3(CREBBP):c.3779+10G>A
|
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NM_004380.3(CREBBP):c.3780-12T>C
|
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NM_004380.3(CREBBP):c.3804A>G (p.Glu1268=)
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NM_004380.3(CREBBP):c.3836+15A>G
|
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NM_004380.3(CREBBP):c.3837-19C>T
|
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NM_004380.3(CREBBP):c.3883G>A (p.Val1295Ile)
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NM_004380.3(CREBBP):c.390C>T (p.Ala130=)
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NM_004380.3(CREBBP):c.3914+11T>A
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NM_004380.3(CREBBP):c.3914+11T>G
|
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NM_004380.3(CREBBP):c.3914+13C>T
|
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NM_004380.3(CREBBP):c.3914+20C>T
|
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NM_004380.3(CREBBP):c.3915-15A>G
|
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NM_004380.3(CREBBP):c.3915-20A>C
|
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NM_004380.3(CREBBP):c.3918T>C (p.Phe1306=)
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NM_004380.3(CREBBP):c.3925G>A (p.Asp1309Asn)
|
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|
NM_004380.3(CREBBP):c.3946G>A (p.Gly1316Ser)
|
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|
|
NM_004380.3(CREBBP):c.3978T>C (p.Ala1326=)
|
rs2151353919
|
|
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NM_004380.3(CREBBP):c.3982+14A>C
|
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|
|
NM_004380.3(CREBBP):c.3982+15del
|
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NM_004380.3(CREBBP):c.3982+19T>C
|
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NM_004380.3(CREBBP):c.3983-17C>G
|
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NM_004380.3(CREBBP):c.3983-4del
|
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NM_004380.3(CREBBP):c.3983-7T>C
|
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NM_004380.3(CREBBP):c.4011C>T (p.His1337=)
|
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NM_004380.3(CREBBP):c.4062C>T (p.Ala1354=)
|
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|
NM_004380.3(CREBBP):c.4063G>A (p.Gly1355Arg)
|
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|
NM_004380.3(CREBBP):c.4068G>A (p.Glu1356=)
|
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NM_004380.3(CREBBP):c.4110G>A (p.Glu1370=)
|
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|
NM_004380.3(CREBBP):c.4119C>G (p.Pro1373=)
|
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|
|
NM_004380.3(CREBBP):c.4133+20A>G
|
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|
NM_004380.3(CREBBP):c.4133+6TG[4]
|
|
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NM_004380.3(CREBBP):c.4133+7G>A
|
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|
NM_004380.3(CREBBP):c.4158T>A (p.Ser1386=)
|
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|
NM_004380.3(CREBBP):c.4161A>G (p.Glu1387=)
|
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|
NM_004380.3(CREBBP):c.4170A>G (p.Pro1390=)
|
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|
NM_004380.3(CREBBP):c.4185T>C (p.Ala1395=)
|
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|
NM_004380.3(CREBBP):c.4240G>A (p.Val1414Ile)
|
|
|
|
NM_004380.3(CREBBP):c.4263C>T (p.Cys1421=)
|
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|
|
NM_004380.3(CREBBP):c.4266C>G (p.Pro1422=)
|
|
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|
NM_004380.3(CREBBP):c.4277C>T (p.Thr1426Met)
|
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NM_004380.3(CREBBP):c.4278G>A (p.Thr1426=)
|
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|
NM_004380.3(CREBBP):c.4280+20del
|
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NM_004380.3(CREBBP):c.4281-19A>G
|
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NM_004380.3(CREBBP):c.4296T>G (p.Ser1432=)
|
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|
NM_004380.3(CREBBP):c.4299T>C (p.Tyr1433=)
|
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NM_004380.3(CREBBP):c.4311T>A (p.Ile1437=)
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|
NM_004380.3(CREBBP):c.4329T>A (p.Arg1443=)
|
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|
NM_004380.3(CREBBP):c.432C>T (p.Thr144=)
|
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|
NM_004380.3(CREBBP):c.4332C>T (p.Cys1444=)
|
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|
NM_004380.3(CREBBP):c.435C>G (p.Pro145=)
|
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|
NM_004380.3(CREBBP):c.436G>A (p.Ala146Thr)
|
|
|
|
NM_004380.3(CREBBP):c.4371T>C (p.Tyr1457=)
|
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|
|
NM_004380.3(CREBBP):c.4392A>G (p.Leu1464=)
|
|
|
|
NM_004380.3(CREBBP):c.4394+9G>C
|
|
|
|
NM_004380.3(CREBBP):c.4395-13G>T
|
rs761012080
|
|
|
NM_004380.3(CREBBP):c.4395-14C>T
|
|
|
|
NM_004380.3(CREBBP):c.4395-6C>T
|
rs2151330246
|
|
|
NM_004380.3(CREBBP):c.4440T>C (p.Asp1480=)
|
|
|
|
NM_004380.3(CREBBP):c.4452C>T (p.Phe1484=)
|
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|
|
NM_004380.3(CREBBP):c.4530G>A (p.Ala1510=)
|
|
|
|
NM_004380.3(CREBBP):c.4530G>T (p.Ala1510=)
|
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|
|
NM_004380.3(CREBBP):c.4548C>T (p.Ile1516=)
|
|
|
|
NM_004380.3(CREBBP):c.4560+10G>A
|
|
|
|
NM_004380.3(CREBBP):c.4560+11C>A
|
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|
|
NM_004380.3(CREBBP):c.4560+20G>T
|
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|
|
NM_004380.3(CREBBP):c.4561-20_4561-19del
|
|
|
|
NM_004380.3(CREBBP):c.4561-7C>T
|
|
|
|
NM_004380.3(CREBBP):c.4561-9C>T
|
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|
|
NM_004380.3(CREBBP):c.4578A>C (p.Ala1526=)
|
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|
|
NM_004380.3(CREBBP):c.459G>C (p.Pro153=)
|
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|
NM_004380.3(CREBBP):c.4626T>C (p.Gly1542=)
|
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|
|
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)
|
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|
NM_004380.3(CREBBP):c.4641T>C (p.Asn1547=)
|
|
|
|
NM_004380.3(CREBBP):c.4662G>A (p.Lys1554=)
|
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|
|
NM_004380.3(CREBBP):c.4683G>A (p.Glu1561=)
|
|
|
|
NM_004380.3(CREBBP):c.4695G>A (p.Lys1565=)
|
|
|
|
NM_004380.3(CREBBP):c.4722C>T (p.Thr1574=)
|
|
|
|
NM_004380.3(CREBBP):c.4729-12G>A
|
|
|
|
NM_004380.3(CREBBP):c.4729-13C>T
|
|
|
|
NM_004380.3(CREBBP):c.4729-17C>T
|
|
|
|
NM_004380.3(CREBBP):c.4729-18C>G
|
|
|
|
NM_004380.3(CREBBP):c.4735C>G (p.Gln1579Glu)
|
rs746079826
|
|
|
NM_004380.3(CREBBP):c.4737G>A (p.Gln1579=)
|
|
|
|
NM_004380.3(CREBBP):c.4764G>A (p.Lys1588=)
|
|
|
|
NM_004380.3(CREBBP):c.4795A>G (p.Ser1599Gly)
|
|
|
|
NM_004380.3(CREBBP):c.4836C>T (p.Asn1612=)
|
|
|
|
NM_004380.3(CREBBP):c.4844A>G (p.Asn1615Ser)
|
|
|
|
NM_004380.3(CREBBP):c.4861C>T (p.Leu1621=)
|
|
|
|
NM_004380.3(CREBBP):c.4866T>C (p.Tyr1622=)
|
|
|
|
NM_004380.3(CREBBP):c.4890+17G>A
|
|
|
|
NM_004380.3(CREBBP):c.4890+8T>C
|
|
|
|
NM_004380.3(CREBBP):c.4891-12C>T
|
|
|
|
NM_004380.3(CREBBP):c.4891-17C>T
|
|
|
|
NM_004380.3(CREBBP):c.4891-6C>T
|
|
|
|
NM_004380.3(CREBBP):c.4891-8T>C
|
|
|
|
NM_004380.3(CREBBP):c.4893C>A (p.Val1631=)
|
|
|
|
NM_004380.3(CREBBP):c.4899C>T (p.Phe1633=)
|
|
|
|
NM_004380.3(CREBBP):c.4926C>T (p.Val1642=)
|
|
|
|
NM_004380.3(CREBBP):c.4929C>T (p.Ile1643=)
|
|
|
|
NM_004380.3(CREBBP):c.4944C>A (p.Pro1648=)
|
rs375829291
|
|
|
NM_004380.3(CREBBP):c.4962C>G (p.Pro1654=)
|
|
|
|
NM_004380.3(CREBBP):c.4992C>G (p.Arg1664=)
|
|
|
|
NM_004380.3(CREBBP):c.4995C>T (p.Asp1665=)
|
|
|
|
NM_004380.3(CREBBP):c.5010C>G (p.Leu1670=)
|
|
|
|
NM_004380.3(CREBBP):c.5010C>T (p.Leu1670=)
|
|
|
|
NM_004380.3(CREBBP):c.5034C>T (p.Phe1678=)
|
|
|
|
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)
|
|
|
|
NM_004380.3(CREBBP):c.5049C>T (p.Arg1683=)
|
|
|
|
NM_004380.3(CREBBP):c.504G>C (p.Thr168=)
|
|
|
|
NM_004380.3(CREBBP):c.5064G>A (p.Thr1688=)
|
|
|
|
NM_004380.3(CREBBP):c.5091C>G (p.Thr1697=)
|
|
|
|
NM_004380.3(CREBBP):c.510G>A (p.Gln170=)
|
|
|
|
NM_004380.3(CREBBP):c.5127G>A (p.Glu1709=)
|
|
|
|
NM_004380.3(CREBBP):c.5133G>A (p.Lys1711=)
|
|
|
|
NM_004380.3(CREBBP):c.5139C>T (p.His1713=)
|
|
|
|
NM_004380.3(CREBBP):c.5148G>A (p.Thr1716=)
|
|
|
|
NM_004380.3(CREBBP):c.5148G>C (p.Thr1716=)
|
rs376575063
|
|
|
NM_004380.3(CREBBP):c.5163T>C (p.Thr1721=)
|
|
|
|
NM_004380.3(CREBBP):c.5172+13C>A
|
|
|
|
NM_004380.3(CREBBP):c.5173-10T>G
|
|
|
|
NM_004380.3(CREBBP):c.5184C>T (p.Leu1728=)
|
rs759268055
|
|
|
NM_004380.3(CREBBP):c.5205G>A (p.Thr1735=)
|
|
|
|
NM_004380.3(CREBBP):c.5232G>A (p.Lys1744=)
|
rs1567263707
|
|
|
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=)
|
rs932933039
|
|
|
NM_004380.3(CREBBP):c.5286G>A (p.Lys1762=)
|
|
|
|
NM_004380.3(CREBBP):c.529A>G (p.Met177Val)
|
|
|
|
NM_004380.3(CREBBP):c.5334G>T (p.Ser1778=)
|
|
|
|
NM_004380.3(CREBBP):c.5364C>T (p.Ala1788=)
|
|
|
|
NM_004380.3(CREBBP):c.5374C>T (p.Leu1792=)
|
|
|
|
NM_004380.3(CREBBP):c.5403G>A (p.Val1801=)
|
|
|
|
NM_004380.3(CREBBP):c.5403G>T (p.Val1801=)
|
|
|
|
NM_004380.3(CREBBP):c.5415C>T (p.Thr1805=)
|
|
|
|
NM_004380.3(CREBBP):c.5418G>A (p.Lys1806=)
|
|
|
|
NM_004380.3(CREBBP):c.5439C>T (p.Asn1813=)
|
|
|
|
NM_004380.3(CREBBP):c.5451G>A (p.Pro1817=)
|
|
|
|
NM_004380.3(CREBBP):c.5571C>T (p.His1857=)
|
|
|
|
NM_004380.3(CREBBP):c.5592C>A (p.Leu1864=)
|
|
|
|
NM_004380.3(CREBBP):c.5592C>T (p.Leu1864=)
|
|
|
|
NM_004380.3(CREBBP):c.569A>G (p.Asn190Ser)
|
|
|
|
NM_004380.3(CREBBP):c.5715C>A (p.Pro1905=)
|
|
|
|
NM_004380.3(CREBBP):c.5730A>G (p.Gln1910=)
|
|
|
|
NM_004380.3(CREBBP):c.5790C>G (p.Pro1930=)
|
|
|
|
NM_004380.3(CREBBP):c.5790C>T (p.Pro1930=)
|
|
|
|
NM_004380.3(CREBBP):c.5817C>A (p.Thr1939=)
|
|
|
|
NM_004380.3(CREBBP):c.5841C>T (p.Pro1947=)
|
|
|
|
NM_004380.3(CREBBP):c.5874G>A (p.Ala1958=)
|
|
|
|
NM_004380.3(CREBBP):c.5886C>A (p.Ile1962=)
|
rs370565083
|
|
|
NM_004380.3(CREBBP):c.5887G>A (p.Glu1963Lys)
|
|
|
|
NM_004380.3(CREBBP):c.5910G>A (p.Gln1970=)
|
|
|
|
NM_004380.3(CREBBP):c.5910G>T (p.Gln1970His)
|
|
|
|
NM_004380.3(CREBBP):c.5919C>T (p.Tyr1973=)
|
|
|
|
NM_004380.3(CREBBP):c.5922G>T (p.Arg1974=)
|
|
|
|
NM_004380.3(CREBBP):c.5934C>G (p.Asn1978Lys)
|
|
|
|
NM_004380.3(CREBBP):c.5940C>T (p.Ser1980=)
|
|
|
|
NM_004380.3(CREBBP):c.5956A>G (p.Thr1986Ala)
|
|
|
|
NM_004380.3(CREBBP):c.5957C>T (p.Thr1986Met)
|
|
|
|
NM_004380.3(CREBBP):c.59C>T (p.Pro20Leu)
|
|
|
|
NM_004380.3(CREBBP):c.6033C>T (p.Pro2011=)
|
rs763241697
|
|
|
NM_004380.3(CREBBP):c.6034G>A (p.Val2012Ile)
|
|
|
|
NM_004380.3(CREBBP):c.6045C>T (p.Ser2015=)
|
|
|
|
NM_004380.3(CREBBP):c.6077T>A (p.Leu2026His)
|
|
|
|
NM_004380.3(CREBBP):c.6102C>T (p.Gly2034=)
|
|
|
|
NM_004380.3(CREBBP):c.6110G>A (p.Arg2037Lys)
|
|
|
|
NM_004380.3(CREBBP):c.6130G>A (p.Ala2044Thr)
|
|
|
|
NM_004380.3(CREBBP):c.6131C>T (p.Ala2044Val)
|
|
|
|
NM_004380.3(CREBBP):c.6138G>T (p.Ala2046=)
|
|
|
|
NM_004380.3(CREBBP):c.615G>A (p.Gln205=)
|
|
|
|
NM_004380.3(CREBBP):c.6186C>T (p.Ile2062=)
|
|
|
|
NM_004380.3(CREBBP):c.6216G>A (p.Arg2072=)
|
|
|
|
NM_004380.3(CREBBP):c.6237C>T (p.Ser2079=)
|
|
|
|
NM_004380.3(CREBBP):c.6273A>G (p.Lys2091=)
|
|
|
|
NM_004380.3(CREBBP):c.6303C>T (p.Ile2101=)
|
|
|
|
NM_004380.3(CREBBP):c.6315A>G (p.Thr2105=)
|
|
|
|
NM_004380.3(CREBBP):c.6327G>C (p.Val2109=)
|
|
|
|
NM_004380.3(CREBBP):c.6339C>T (p.Pro2113=)
|
|
|
|
NM_004380.3(CREBBP):c.6343A>G (p.Met2115Val)
|
|
|
|
NM_004380.3(CREBBP):c.6372G>A (p.Gln2124=)
|
|
|
|
NM_004380.3(CREBBP):c.6378C>A (p.Gly2126=)
|
|
|
|
NM_004380.3(CREBBP):c.6391C>T (p.Pro2131Ser)
|
|
|
|
NM_004380.3(CREBBP):c.6417G>A (p.Leu2139=)
|
|
|
|
NM_004380.3(CREBBP):c.6419A>G (p.Gln2140Arg)
|
|
|
|
NM_004380.3(CREBBP):c.6432C>T (p.Ala2144=)
|
|
|
|
NM_004380.3(CREBBP):c.6433A>T (p.Met2145Leu)
|
|
|
|
NM_004380.3(CREBBP):c.6453G>C (p.Arg2151=)
|
|
|
|
NM_004380.3(CREBBP):c.6456C>T (p.Pro2152=)
|
|
|
|
NM_004380.3(CREBBP):c.6457G>A (p.Gly2153Ser)
|
|
|
|
NM_004380.3(CREBBP):c.6478G>A (p.Ala2160Thr)
|
|
|
|
NM_004380.3(CREBBP):c.6480G>A (p.Ala2160=)
|
|
|
|
NM_004380.3(CREBBP):c.6480G>T (p.Ala2160=)
|
|
|
|
NM_004380.3(CREBBP):c.6510C>G (p.Ala2170=)
|
|
|
|
NM_004380.3(CREBBP):c.6510C>T (p.Ala2170=)
|
|
|
|
NM_004380.3(CREBBP):c.6536A>C (p.Asn2179Thr)
|
|
|
|
NM_004380.3(CREBBP):c.6548C>T (p.Ala2183Val)
|
|
|
|
NM_004380.3(CREBBP):c.6585G>A (p.Arg2195=)
|
|
|
|
NM_004380.3(CREBBP):c.6600GCAGCAGCAACA[1] (p.Gln2213_Gln2216del)
|
rs750150018
|
|
|
NM_004380.3(CREBBP):c.6603G>A (p.Gln2201=)
|
|
|
|
NM_004380.3(CREBBP):c.6633A>G (p.Gln2211=)
|
|
|
|
NM_004380.3(CREBBP):c.6657C>T (p.Ala2219=)
|
|
|
|
NM_004380.3(CREBBP):c.6671G>C (p.Gly2224Ala)
|
|
|
|
NM_004380.3(CREBBP):c.6745C>T (p.Arg2249Cys)
|
|
|
|
NM_004380.3(CREBBP):c.6763C>T (p.Pro2255Ser)
|
|
|
|
NM_004380.3(CREBBP):c.6765C>G (p.Pro2255=)
|
|
|
|
NM_004380.3(CREBBP):c.6777C>T (p.Ser2259=)
|
|
|
|
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=)
|
rs372866305
|
|
|
NM_004380.3(CREBBP):c.6855C>G (p.Pro2285=)
|
|
|
|
NM_004380.3(CREBBP):c.685C>T (p.Pro229Ser)
|
|
|
|
NM_004380.3(CREBBP):c.6864G>A (p.Gln2288=)
|
|
|
|
NM_004380.3(CREBBP):c.6886C>T (p.Leu2296=)
|
|
|
|
NM_004380.3(CREBBP):c.6969A>G (p.Gly2323=)
|
|
|
|
NM_004380.3(CREBBP):c.6972G>A (p.Gln2324=)
|
|
|
|
NM_004380.3(CREBBP):c.6997C>A (p.Gln2333Lys)
|
|
|
|
NM_004380.3(CREBBP):c.7005C>T (p.Ile2335=)
|
|
|
|
NM_004380.3(CREBBP):c.7006G>A (p.Ala2336Thr)
|
|
|
|
NM_004380.3(CREBBP):c.700G>A (p.Ala234Thr)
|
|
|
|
NM_004380.3(CREBBP):c.7011G>C (p.Thr2337=)
|
|
|
|
NM_004380.3(CREBBP):c.702C>T (p.Ala234=)
|
|
|
|
NM_004380.3(CREBBP):c.7030C>T (p.Arg2344Trp)
|
|
|
|
NM_004380.3(CREBBP):c.7041C>T (p.Ala2347=)
|
|
|
|
NM_004380.3(CREBBP):c.7062C>T (p.Pro2354=)
|
|
|
|
NM_004380.3(CREBBP):c.7107C>G (p.Pro2369=)
|
|
|
|
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)
|
rs146887252
|
|
|
NM_004380.3(CREBBP):c.7146C>T (p.Ser2382=)
|
|
|
|
NM_004380.3(CREBBP):c.7149C>A (p.Pro2383=)
|
|
|
|
NM_004380.3(CREBBP):c.7155C>T (p.Pro2385=)
|
rs763948946
|
|
|
NM_004380.3(CREBBP):c.7161C>G (p.Leu2387=)
|
|
|
|
NM_004380.3(CREBBP):c.7182C>T (p.Ser2394=)
|
rs934317603
|
|
|
NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr)
|
|
|
|
NM_004380.3(CREBBP):c.7203G>T (p.Gly2401=)
|
|
|
|
NM_004380.3(CREBBP):c.7209C>T (p.Pro2403=)
|
|
|
|
NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=)
|
rs1555470758
|
|
|
NM_004380.3(CREBBP):c.7257G>A (p.Ala2419=)
|
|
|
|
NM_004380.3(CREBBP):c.726C>G (p.Thr242=)
|
|
|
|
NM_004380.3(CREBBP):c.7292C>T (p.Thr2431Met)
|
|
|
|
NM_004380.3(CREBBP):c.732G>A (p.Thr244=)
|
|
|
|
NM_004380.3(CREBBP):c.756T>C (p.Gly252=)
|
|
|
|
NM_004380.3(CREBBP):c.761C>T (p.Ala254Val)
|
|
|
|
NM_004380.3(CREBBP):c.775G>T (p.Ala259Ser)
|
|
|
|
NM_004380.3(CREBBP):c.782C>T (p.Ala261Val)
|
|
|
|
NM_004380.3(CREBBP):c.799-18A>T
|
|
|
|
NM_004380.3(CREBBP):c.799-19del
|
rs2141347625
|
|
|
NM_004380.3(CREBBP):c.810T>C (p.Thr270=)
|
|
|
|
NM_004380.3(CREBBP):c.85+11G>A
|
|
|
|
NM_004380.3(CREBBP):c.85+13_85+28del
|
|
|
|
NM_004380.3(CREBBP):c.85+14C>T
|
|
|
|
NM_004380.3(CREBBP):c.85+7_85+13del
|
|
|
|
NM_004380.3(CREBBP):c.858G>A (p.Gln286=)
|
|
|
|
NM_004380.3(CREBBP):c.86-20C>A
|
|
|
|
NM_004380.3(CREBBP):c.927C>G (p.Thr309=)
|
rs575297081
|
|
|
NM_004380.3(CREBBP):c.934A>G (p.Thr312Ala)
|
|
|
|
NM_004380.3(CREBBP):c.941T>C (p.Ile314Thr)
|
|
|
|
NM_004380.3(CREBBP):c.942C>G (p.Ile314Met)
|
|
|
|
NM_004380.3(CREBBP):c.966G>A (p.Val322=)
|
|
|
|
NM_004380.3(CREBBP):c.975+9C>A
|
|
|
|
NM_004380.3(CREBBP):c.976-12G>T
|
|
|
|
NM_004380.3(CREBBP):c.976-20A>G
|
|
|
|
NM_004380.3(CREBBP):c.976-4T>G
|
|
|
|
NM_004380.3(CREBBP):c.976-6T>C
|
|
|
|
NM_004380.3(CREBBP):c.987A>G (p.Gln329=)
|
rs778596455
|
|
|
NM_004380.3(CREBBP):c.993A>C (p.Ser331=)
|
|
|
|
NM_004629.2(FANCG):c.1002A>G (p.Leu334=)
|
rs984958735
|
|
|
NM_004629.2(FANCG):c.1017T>C (p.His339=)
|
rs764465471
|
|
|
NM_004629.2(FANCG):c.1023C>T (p.Gly341=)
|
|
|
|
NM_004629.2(FANCG):c.105G>C (p.Leu35=)
|
|
|
|
NM_004629.2(FANCG):c.1063C>T (p.Leu355=)
|
rs1829085262
|
|
|
NM_004629.2(FANCG):c.1065A>G (p.Leu355=)
|
|
|
|
NM_004629.2(FANCG):c.1071G>A (p.Thr357=)
|
rs1829085044
|
|
|
NM_004629.2(FANCG):c.1074G>A (p.Gly358=)
|
rs749198217
|
|
|
NM_004629.2(FANCG):c.1076+15del
|
|
|
|
NM_004629.2(FANCG):c.1076+16C>T
|
|
|
|
NM_004629.2(FANCG):c.1076+9C>T
|
rs1245972880
|
|
|
NM_004629.2(FANCG):c.1077-13T>G
|
|
|
|
NM_004629.2(FANCG):c.1077-18T>C
|
|
|
|
NM_004629.2(FANCG):c.1077-7T>C
|
rs2131054765
|
|
|
NM_004629.2(FANCG):c.1077-8C>T
|
rs1563986100
|
|
|
NM_004629.2(FANCG):c.1077-9A>C
|
|
|
|
NM_004629.2(FANCG):c.1116C>G (p.Ala372=)
|
rs2131054695
|
|
|
NM_004629.2(FANCG):c.1116C>T (p.Ala372=)
|
|
|
|
NM_004629.2(FANCG):c.1122_1123delinsAT (p.Leu374_Leu375=)
|
|
|
|
NM_004629.2(FANCG):c.1123C>T (p.Leu375=)
|
rs1447583193
|
|
|
NM_004629.2(FANCG):c.1143+11C>G
|
|
|
|
NM_004629.2(FANCG):c.1143+15A>C
|
|
|
|
NM_004629.2(FANCG):c.1143+17G>A
|
|
|
|
NM_004629.2(FANCG):c.1143+17G>C
|
|
|
|
NM_004629.2(FANCG):c.1143+18C>T
|
|
|
|
NM_004629.2(FANCG):c.1143+8T>C
|
rs2131054621
|
|
|
NM_004629.2(FANCG):c.1144-10C>T
|
rs1159181079
|
|
|
NM_004629.2(FANCG):c.1144-16C>G
|
|
|
|
NM_004629.2(FANCG):c.1144-18TTC[2]
|
|
|
|
NM_004629.2(FANCG):c.1144-19C>T
|
|
|
|
NM_004629.2(FANCG):c.1144-5T>C
|
|
|
|
NM_004629.2(FANCG):c.1144-6C>T
|
|
|
|
NM_004629.2(FANCG):c.1144-7_1144-6delinsTT
|
rs2131054350
|
|
|
NM_004629.2(FANCG):c.1144-8C>T
|
|
|
|
NM_004629.2(FANCG):c.1158C>T (p.Pro386=)
|
rs201041980
|
|
|
NM_004629.2(FANCG):c.115C>A (p.Arg39=)
|
|
|
|
NM_004629.2(FANCG):c.1173C>G (p.Pro391=)
|
|
|
|
NM_004629.2(FANCG):c.1192T>C (p.Leu398=)
|
|
|
|
NM_004629.2(FANCG):c.1197G>A (p.Glu399=)
|
rs745472311
|
|
|
NM_004629.2(FANCG):c.1209A>G (p.Ala403=)
|
|
|
|
NM_004629.2(FANCG):c.1209A>T (p.Ala403=)
|
|
|
|
NM_004629.2(FANCG):c.1236T>C (p.Asp412=)
|
|
|
|
NM_004629.2(FANCG):c.1239C>T (p.Ala413=)
|
rs2131054090
|
|
|
NM_004629.2(FANCG):c.123G>A (p.Gln41=)
|
rs1319799772
|
|
|
NM_004629.2(FANCG):c.1240T>C (p.Leu414=)
|
|
|
|
NM_004629.2(FANCG):c.1246C>T (p.Leu416=)
|
|
|
|
NM_004629.2(FANCG):c.1266C>T (p.Ser422=)
|
|
|
|
NM_004629.2(FANCG):c.1269C>T (p.Arg423=)
|
rs753829462
|
|
|
NM_004629.2(FANCG):c.1272A>G (p.Thr424=)
|
rs2131054017
|
|
|
NM_004629.2(FANCG):c.1279C>T (p.Leu427=)
|
rs760537318
|
|
|
NM_004629.2(FANCG):c.1282C>T (p.Leu428=)
|
rs2131053992
|
|
|
NM_004629.2(FANCG):c.129T>A (p.Ala43=)
|
|
|
|
NM_004629.2(FANCG):c.1326C>T (p.Thr442=)
|
rs2131053924
|
|
|
NM_004629.2(FANCG):c.132G>A (p.Gln44=)
|
rs771581491
|
|
|
NM_004629.2(FANCG):c.1333C>T (p.Leu445=)
|
|
|
|
NM_004629.2(FANCG):c.1338A>T (p.Pro446=)
|
rs758656355
|
|
|
NM_004629.2(FANCG):c.1350C>G (p.Leu450=)
|
|
|
|
NM_004629.2(FANCG):c.1356C>T (p.Val452=)
|
rs2131053861
|
|
|
NM_004629.2(FANCG):c.1365C>A (p.Thr455=)
|
rs767385265
|
|
|
NM_004629.2(FANCG):c.1365C>T (p.Thr455=)
|
rs767385265
|
|
|
NM_004629.2(FANCG):c.1386C>G (p.Ala462=)
|
|
|
|
NM_004629.2(FANCG):c.138A>C (p.Ala46=)
|
rs1829139114
|
|
|
NM_004629.2(FANCG):c.1392T>C (p.Val464=)
|
|
|
|
NM_004629.2(FANCG):c.1395A>G (p.Gln465=)
|
|
|
|
NM_004629.2(FANCG):c.139C>T (p.Leu47=)
|
|
|
|
NM_004629.2(FANCG):c.1410A>G (p.Lys470=)
|
rs2131053755
|
|
|
NM_004629.2(FANCG):c.1416A>G (p.Ala472=)
|
rs1587139991
|
|
|
NM_004629.2(FANCG):c.1416A>T (p.Ala472=)
|
rs1587139991
|
|
|
NM_004629.2(FANCG):c.1433+10G>A
|
|
|
|
NM_004629.2(FANCG):c.1434-10C>T
|
|
|
|
NM_004629.2(FANCG):c.1434-14_1434-5del
|
|
|
|
NM_004629.2(FANCG):c.1434-16C>T
|
|
|
|
NM_004629.2(FANCG):c.1434-19G>A
|
|
|
|
NM_004629.2(FANCG):c.1434-7A>G
|
|
|
|
NM_004629.2(FANCG):c.1440C>G (p.Leu480=)
|
|
|
|
NM_004629.2(FANCG):c.1440C>T (p.Leu480=)
|
rs776146510
|
|
|
NM_004629.2(FANCG):c.1464T>G (p.Pro488=)
|
|
|
|
NM_004629.2(FANCG):c.1480+11C>T
|
|
|
|
NM_004629.2(FANCG):c.1480+14T>C
|
|
|
|
NM_004629.2(FANCG):c.1480+15C>G
|
|
|
|
NM_004629.2(FANCG):c.1480+15C>T
|
|
|
|
NM_004629.2(FANCG):c.1481-11G>C
|
|
|
|
NM_004629.2(FANCG):c.1481-16T>C
|
|
|
|
NM_004629.2(FANCG):c.1481-18T>C
|
|
|
|
NM_004629.2(FANCG):c.1481-18T>G
|
|
|
|
NM_004629.2(FANCG):c.1482G>C (p.Gly494=)
|
rs1196684565
|
|
|
NM_004629.2(FANCG):c.1500G>A (p.Glu500=)
|
rs1045640267
|
|
|
NM_004629.2(FANCG):c.1503G>A (p.Gln501=)
|
|
|
|
NM_004629.2(FANCG):c.1506A>T (p.Gly502=)
|
|
|
|
NM_004629.2(FANCG):c.150C>G (p.Leu50=)
|
|
|
|
NM_004629.2(FANCG):c.1512G>A (p.Lys504=)
|
rs746983204
|
|
|
NM_004629.2(FANCG):c.1518T>C (p.Asp506=)
|
|
|
|
NM_004629.2(FANCG):c.1521G>C (p.Ala507=)
|
|
|
|
NM_004629.2(FANCG):c.1525C>T (p.Leu509=)
|
|
|
|
NM_004629.2(FANCG):c.1530G>A (p.Gln510=)
|
rs2131053024
|
|
|
NM_004629.2(FANCG):c.153A>G (p.Arg51=)
|
|
|
|
NM_004629.2(FANCG):c.1542A>G (p.Ala514=)
|
rs2131052991
|
|
|
NM_004629.2(FANCG):c.1548C>T (p.Ala516=)
|
|
|
|
NM_004629.2(FANCG):c.1560T>C (p.Arg520=)
|
|
|
|
NM_004629.2(FANCG):c.156G>A (p.Gly52=)
|
|
|
|
NM_004629.2(FANCG):c.159C>T (p.Leu53=)
|
|
|
|
NM_004629.2(FANCG):c.15C>G (p.Thr5=)
|
rs748963569
|
|
|
NM_004629.2(FANCG):c.1614C>T (p.Leu538=)
|
rs1189580729
|
|
|
NM_004629.2(FANCG):c.1620T>C (p.Ser540=)
|
|
|
|
NM_004629.2(FANCG):c.1636+10C>G
|
rs1291672216
|
|
|
NM_004629.2(FANCG):c.1636+13G>A
|
|
|
|
NM_004629.2(FANCG):c.1636+13dup
|
|
|
|
NM_004629.2(FANCG):c.1636+14C>T
|
|
|
|
NM_004629.2(FANCG):c.1636+15A>G
|
|
|
|
NM_004629.2(FANCG):c.1636+19C>T
|
|
|
|
NM_004629.2(FANCG):c.1637-13G>A
|
|
|
|
NM_004629.2(FANCG):c.1637-18T>A
|
rs1829043715
|
|
|
NM_004629.2(FANCG):c.1637-5T>C
|
|
|
|
NM_004629.2(FANCG):c.1637-7G>A
|
|
|
|
NM_004629.2(FANCG):c.1656T>C (p.Phe552=)
|
|
|
|
NM_004629.2(FANCG):c.1665T>G (p.Leu555=)
|
rs2131051914
|
|
|
NM_004629.2(FANCG):c.1671T>G (p.Thr557=)
|
|
|
|
NM_004629.2(FANCG):c.1680G>A (p.Arg560=)
|
|
|
|
NM_004629.2(FANCG):c.1683A>G (p.Leu561=)
|
|
|
|
NM_004629.2(FANCG):c.1687C>A (p.Arg563=)
|
rs754258080
|
|
|
NM_004629.2(FANCG):c.1689G>C (p.Arg563=)
|
rs138855718
|
|
|
NM_004629.2(FANCG):c.168T>C (p.Ser56=)
|
rs2131059736
|
|
|
NM_004629.2(FANCG):c.1692G>A (p.Arg564=)
|
|
|
|
NM_004629.2(FANCG):c.1710C>G (p.Leu570=)
|
|
|
|
NM_004629.2(FANCG):c.1717A>C (p.Arg573=)
|
rs2131051789
|
|
|
NM_004629.2(FANCG):c.171G>C (p.Leu57=)
|
rs2131059726
|
|
|
NM_004629.2(FANCG):c.1740G>A (p.Gly580=)
|
rs773083883
|
|
|
NM_004629.2(FANCG):c.175+13T>A
|
|
|
|
NM_004629.2(FANCG):c.175+15C>T
|
|
|
|
NM_004629.2(FANCG):c.175+16C>G
|
|
|
|
NM_004629.2(FANCG):c.175+16C>T
|
|
|
|
NM_004629.2(FANCG):c.175+16_175+17del
|
|
|
|
NM_004629.2(FANCG):c.175+7G>T
|
|
|
|
NM_004629.2(FANCG):c.175+9G>A
|
|
|
|
NM_004629.2(FANCG):c.1752T>C (p.Asp584=)
|
|
|
|
NM_004629.2(FANCG):c.1755T>C (p.Ala585=)
|
|
|
|
NM_004629.2(FANCG):c.176-14C>T
|
rs1829131097
|
|
|
NM_004629.2(FANCG):c.176-18C>G
|
|
|
|
NM_004629.2(FANCG):c.176-20G>A
|
|
|
|
NM_004629.2(FANCG):c.1760+14C>T
|
|
|
|
NM_004629.2(FANCG):c.1760+7C>T
|
|
|
|
NM_004629.2(FANCG):c.1760+9C>G
|
|
|
|
NM_004629.2(FANCG):c.1760+9C>T
|
|
|
|
NM_004629.2(FANCG):c.1761-10T>C
|
rs1363368892
|
|
|
NM_004629.2(FANCG):c.1761-19C>T
|
|
|
|
NM_004629.2(FANCG):c.1761-8C>T
|
rs1179718076
|
|
|
NM_004629.2(FANCG):c.1767C>T (p.Leu589=)
|
rs1060504369
|
|
|
NM_004629.2(FANCG):c.1770C>A (p.Pro590=)
|
|
|
|
NM_004629.2(FANCG):c.1770C>G (p.Pro590=)
|
rs1563984984
|
|
|
NM_004629.2(FANCG):c.1779A>G (p.Leu593=)
|
rs2131051289
|
|
|
NM_004629.2(FANCG):c.177G>A (p.Gly59=)
|
rs1554670511
|
|
|
NM_004629.2(FANCG):c.177G>T (p.Gly59=)
|
|
|
|
NM_004629.2(FANCG):c.1800C>T (p.Ile600=)
|
rs2131051244
|
|
|
NM_004629.2(FANCG):c.1846C>T (p.Leu616=)
|
|
|
|
NM_004629.2(FANCG):c.1851A>G (p.Pro617=)
|
rs2131051090
|
|
|
NM_004629.2(FANCG):c.1863C>T (p.Asp621=)
|
|
|
|
NM_004629.2(FANCG):c.1864C>T (p.Leu622=)
|
|
|
|
NM_004629.2(FANCG):c.204C>T (p.Pro68=)
|
|
|
|
NM_004629.2(FANCG):c.210G>A (p.Glu70=)
|
|
|
|
NM_004629.2(FANCG):c.213G>A (p.Leu71=)
|
|
|
|
NM_004629.2(FANCG):c.21T>C (p.Ser7=)
|
rs747679533
|
|
|
NM_004629.2(FANCG):c.21T>G (p.Ser7=)
|
rs747679533
|
|
|
NM_004629.2(FANCG):c.228C>T (p.Asn76=)
|
|
|
|
NM_004629.2(FANCG):c.237C>A (p.Ile79=)
|
rs2131059090
|
|
|
NM_004629.2(FANCG):c.240G>A (p.Leu80=)
|
rs1221719766
|
|
|
NM_004629.2(FANCG):c.243G>A (p.Arg81=)
|
|
|
|
NM_004629.2(FANCG):c.24G>T (p.Val8=)
|
rs2131060404
|
|
|
NM_004629.2(FANCG):c.255C>T (p.Ala85=)
|
rs2131059041
|
|
|
NM_004629.2(FANCG):c.261T>C (p.Gly87=)
|
rs2131059036
|
|
|
NM_004629.2(FANCG):c.273T>C (p.Asp91=)
|
rs2131059024
|
|
|
NM_004629.2(FANCG):c.276G>A (p.Gln92=)
|
rs752352160
|
|
|
NM_004629.2(FANCG):c.279C>T (p.Ala93=)
|
rs2131059010
|
|
|
NM_004629.2(FANCG):c.285T>C (p.Asp95=)
|
|
|
|
NM_004629.2(FANCG):c.292C>A (p.Arg98=)
|
rs532525154
|
|
|
NM_004629.2(FANCG):c.294G>A (p.Arg98=)
|
|
|
|
NM_004629.2(FANCG):c.297C>T (p.Ser99=)
|
rs770190553
|
|
|
NM_004629.2(FANCG):c.300A>G (p.Leu100=)
|
|
|
|
NM_004629.2(FANCG):c.303G>A (p.Glu101=)
|
|
|
|
NM_004629.2(FANCG):c.307+11G>A
|
|
|
|
NM_004629.2(FANCG):c.307+15T>C
|
|
|
|
NM_004629.2(FANCG):c.307+18T>A
|
|
|
|
NM_004629.2(FANCG):c.307+20C>T
|
|
|
|
NM_004629.2(FANCG):c.307+7G>A
|
rs768958840
|
|
|
NM_004629.2(FANCG):c.308-11A>C
|
|
|
|
NM_004629.2(FANCG):c.308-11A>T
|
|
|
|
NM_004629.2(FANCG):c.308-15G>A
|
|
|
|
NM_004629.2(FANCG):c.308-17G>A
|
|
|
|
NM_004629.2(FANCG):c.308-21GT[6]
|
rs756482885
|
|
|
NM_004629.2(FANCG):c.308-4A>G
|
|
|
|
NM_004629.2(FANCG):c.308-6C>T
|
rs2131058643
|
|
|
NM_004629.2(FANCG):c.310C>T (p.Leu104=)
|
rs1829123908
|
|
|
NM_004629.2(FANCG):c.321G>A (p.Gln107=)
|
rs1829123663
|
|
|
NM_004629.2(FANCG):c.333G>A (p.Gly111=)
|
rs1060504370
|
|
|
NM_004629.2(FANCG):c.33C>T (p.Ser11=)
|
|
|
|
NM_004629.2(FANCG):c.345A>G (p.Glu115=)
|
rs1213271836
|
|
|
NM_004629.2(FANCG):c.351G>A (p.Gly117=)
|
|
|
|
NM_004629.2(FANCG):c.360G>A (p.Glu120=)
|
|
|
|
NM_004629.2(FANCG):c.363G>C (p.Leu121=)
|
|
|
|
NM_004629.2(FANCG):c.375C>A (p.Val125=)
|
rs199754122
|
|
|
NM_004629.2(FANCG):c.384T>A (p.Ala128=)
|
rs2131058508
|
|
|
NM_004629.2(FANCG):c.396G>A (p.Leu132=)
|
|
|
|
NM_004629.2(FANCG):c.39G>T (p.Leu13=)
|
rs758976992
|
|
|
NM_004629.2(FANCG):c.405G>A (p.Leu135=)
|
rs1251066873
|
|
|
NM_004629.2(FANCG):c.405G>T (p.Leu135=)
|
|
|
|
NM_004629.2(FANCG):c.415C>T (p.Leu139=)
|
|
|
|
NM_004629.2(FANCG):c.420C>T (p.His140=)
|
rs764566651
|
|
|
NM_004629.2(FANCG):c.426G>C (p.Leu142=)
|
|
|
|
NM_004629.2(FANCG):c.429T>C (p.Val143=)
|
|
|
|
NM_004629.2(FANCG):c.432C>T (p.Gly144=)
|
|
|
|
NM_004629.2(FANCG):c.433C>T (p.Leu145=)
|
|
|
|
NM_004629.2(FANCG):c.447C>G (p.Leu149=)
|
|
|
|
NM_004629.2(FANCG):c.45G>C (p.Leu15=)
|
rs750918728
|
|
|
NM_004629.2(FANCG):c.468T>C (p.Leu156=)
|
rs2131058320
|
|
|
NM_004629.2(FANCG):c.480C>T (p.Ala160=)
|
rs746680732
|
|
|
NM_004629.2(FANCG):c.487C>T (p.Leu163=)
|
|
|
|
NM_004629.2(FANCG):c.495C>T (p.Thr165=)
|
rs1829120053
|
|
|
NM_004629.2(FANCG):c.501T>C (p.Asn167=)
|
|
|
|
NM_004629.2(FANCG):c.510+12del
|
|
|
|
NM_004629.2(FANCG):c.510+14T>A
|
|
|
|
NM_004629.2(FANCG):c.510+16_510+17del
|
|
|
|
NM_004629.2(FANCG):c.510+17C>T
|
|
|
|
NM_004629.2(FANCG):c.510+7G>C
|
rs1304686615
|
|
|
NM_004629.2(FANCG):c.511-10_511-8del
|
rs1384885358
|
|
|
NM_004629.2(FANCG):c.511-11T>C
|
rs2131057321
|
|
|
NM_004629.2(FANCG):c.511-4C>T
|
|
|
|
NM_004629.2(FANCG):c.511-5C>G
|
|
|
|
NM_004629.2(FANCG):c.511-5C>T
|
|
|
|
NM_004629.2(FANCG):c.511-6C>T
|
rs1244108459
|
|
|
NM_004629.2(FANCG):c.511-6dup
|
rs376732298
|
|
|
NM_004629.2(FANCG):c.519C>G (p.Ala173=)
|
rs2131057288
|
|
|
NM_004629.2(FANCG):c.51G>A (p.Arg17=)
|
rs2131060330
|
|
|
NM_004629.2(FANCG):c.529C>T (p.Leu177=)
|
rs1056307632
|
|
|
NM_004629.2(FANCG):c.534G>C (p.Leu178=)
|
rs2131057260
|
|
|
NM_004629.2(FANCG):c.54A>G (p.Glu18=)
|
|
|
|
NM_004629.2(FANCG):c.558C>G (p.Pro186=)
|
rs1554670415
|
|
|
NM_004629.2(FANCG):c.582A>G (p.Pro194=)
|
|
|
|
NM_004629.2(FANCG):c.591G>A (p.Leu197=)
|
|
|
|
NM_004629.2(FANCG):c.591G>T (p.Leu197=)
|
rs2131057157
|
|
|
NM_004629.2(FANCG):c.603G>A (p.Gln201=)
|
rs2131057141
|
|
|
NM_004629.2(FANCG):c.612G>A (p.Lys204=)
|
|
|
|
NM_004629.2(FANCG):c.618C>T (p.Val206=)
|
rs1587142434
|
|
|
NM_004629.2(FANCG):c.622C>T (p.Leu208=)
|
rs1587142420
|
|
|
NM_004629.2(FANCG):c.646+18C>T
|
|
|
|
NM_004629.2(FANCG):c.646+8A>G
|
rs2131057022
|
|
|
NM_004629.2(FANCG):c.646+9G>C
|
|
|
|
NM_004629.2(FANCG):c.647-15C>G
|
|
|
|
NM_004629.2(FANCG):c.647-18C>T
|
|
|
|
NM_004629.2(FANCG):c.647-4T>G
|
rs1436051790
|
|
|
NM_004629.2(FANCG):c.64C>A (p.Arg22=)
|
|
|
|
NM_004629.2(FANCG):c.666A>G (p.Thr222=)
|
|
|
|
NM_004629.2(FANCG):c.669G>A (p.Gly223=)
|
rs143230416
|
|
|
NM_004629.2(FANCG):c.672C>T (p.Asn224=)
|
rs774051315
|
|
|
NM_004629.2(FANCG):c.684A>G (p.Ala228=)
|
|
|
|
NM_004629.2(FANCG):c.685C>T (p.Leu229=)
|
rs2131056622
|
|
|
NM_004629.2(FANCG):c.690C>T (p.Ser230=)
|
|
|
|
NM_004629.2(FANCG):c.699T>C (p.His233=)
|
|
|
|
NM_004629.2(FANCG):c.69C>T (p.Leu23=)
|
|
|
|
NM_004629.2(FANCG):c.702A>G (p.Glu234=)
|
|
|
|
NM_004629.2(FANCG):c.714C>A (p.Gly238=)
|
rs1185716009
|
|
|
NM_004629.2(FANCG):c.714C>G (p.Gly238=)
|
|
|
|
NM_004629.2(FANCG):c.717G>A (p.Leu239=)
|
rs1350532745
|
|
|
NM_004629.2(FANCG):c.717G>C (p.Leu239=)
|
|
|
|
NM_004629.2(FANCG):c.729T>G (p.Pro243=)
|
rs199736443
|
|
|
NM_004629.2(FANCG):c.732G>T (p.Val244=)
|
|
|
|
NM_004629.2(FANCG):c.738C>A (p.Val246=)
|
|
|
|
NM_004629.2(FANCG):c.73C>A (p.Arg25=)
|
|
|
|
NM_004629.2(FANCG):c.744G>A (p.Val248=)
|
rs1351998495
|
|
|
NM_004629.2(FANCG):c.768C>T (p.His256=)
|
|
|
|
NM_004629.2(FANCG):c.777+10G>A
|
rs374991414
|
|
|
NM_004629.2(FANCG):c.777+12C>T
|
|
|
|
NM_004629.2(FANCG):c.777+15A>G
|
|
|
|
NM_004629.2(FANCG):c.777+18G>A
|
|
|
|
NM_004629.2(FANCG):c.777+18G>T
|
|
|
|
NM_004629.2(FANCG):c.777+8C>T
|
rs367809061
|
|
|
NM_004629.2(FANCG):c.778-10A>G
|
|
|
|
NM_004629.2(FANCG):c.778-12C>G
|
|
|
|
NM_004629.2(FANCG):c.778-13C>A
|
|
|
|
NM_004629.2(FANCG):c.778-13_778-11del
|
rs2131056154
|
|
|
NM_004629.2(FANCG):c.778-15C>G
|
|
|
|
NM_004629.2(FANCG):c.778-20G>A
|
rs749563301
|
|
|
NM_004629.2(FANCG):c.778-4T>G
|
rs2131056132
|
|
|
NM_004629.2(FANCG):c.778-9T>A
|
|
|
|
NM_004629.2(FANCG):c.780A>G (p.Gly260=)
|
rs751407167
|
|
|
NM_004629.2(FANCG):c.798G>A (p.Leu266=)
|
|
|
|
NM_004629.2(FANCG):c.819G>A (p.Leu273=)
|
rs2131056040
|
|
|
NM_004629.2(FANCG):c.81C>A (p.Ala27=)
|
rs1060504372
|
|
|
NM_004629.2(FANCG):c.81C>T (p.Ala27=)
|
rs1060504372
|
|
|
NM_004629.2(FANCG):c.834C>T (p.Ala278=)
|
rs1466753644
|
|
|
NM_004629.2(FANCG):c.84+13C>T
|
|
|
|
NM_004629.2(FANCG):c.84+16G>A
|
|
|
|
NM_004629.2(FANCG):c.84+8_84+9del
|
rs1829143867
|
|
|
NM_004629.2(FANCG):c.84+9G>A
|
|
|
|
NM_004629.2(FANCG):c.84+9G>C
|
|
|
|
NM_004629.2(FANCG):c.84+9del
|
rs2131060242
|
|
|
NM_004629.2(FANCG):c.85-10C>T
|
rs752826583
|
|
|
NM_004629.2(FANCG):c.85-13C>G
|
|
|
|
NM_004629.2(FANCG):c.85-16C>A
|
|
|
|
NM_004629.2(FANCG):c.85-18C>T
|
|
|
|
NM_004629.2(FANCG):c.85-19C>A
|
|
|
|
NM_004629.2(FANCG):c.85-4G>T
|
|
|
|
NM_004629.2(FANCG):c.85-7G>A
|
rs946449199
|
|
|
NM_004629.2(FANCG):c.85-9_85-8del
|
|
|
|
NM_004629.2(FANCG):c.873G>A (p.Gln291=)
|
|
|
|
NM_004629.2(FANCG):c.877C>T (p.Leu293=)
|
|
|
|
NM_004629.2(FANCG):c.87G>T (p.Val29=)
|
|
|
|
NM_004629.2(FANCG):c.882G>C (p.Gly294=)
|
|
|
|
NM_004629.2(FANCG):c.882G>T (p.Gly294=)
|
rs2131055932
|
|
|
NM_004629.2(FANCG):c.912G>A (p.Glu304=)
|
|
|
|
NM_004629.2(FANCG):c.913C>T (p.Leu305=)
|
|
|
|
NM_004629.2(FANCG):c.915G>A (p.Leu305=)
|
rs763736360
|
|
|
NM_004629.2(FANCG):c.924+14_924+15del
|
|
|
|
NM_004629.2(FANCG):c.924+20A>C
|
|
|
|
NM_004629.2(FANCG):c.924+9C>T
|
|
|
|
NM_004629.2(FANCG):c.925-11T>C
|
|
|
|
NM_004629.2(FANCG):c.925-12T>G
|
|
|
|
NM_004629.2(FANCG):c.925-13C>A
|
rs896457719
|
|
|
NM_004629.2(FANCG):c.925-13C>T
|
|
|
|
NM_004629.2(FANCG):c.925-18T>C
|
|
|
|
NM_004629.2(FANCG):c.925-20T>C
|
rs1442157681
|
|
|
NM_004629.2(FANCG):c.925-7C>T
|
|
|
|
NM_004629.2(FANCG):c.925-9C>T
|
|
|
|
NM_004629.2(FANCG):c.927C>G (p.Ala309=)
|
rs370002843
|
|
|
NM_004629.2(FANCG):c.936C>G (p.Val312=)
|
rs934681493
|
|
|
NM_004629.2(FANCG):c.936C>T (p.Val312=)
|
rs934681493
|
|
|
NM_004629.2(FANCG):c.939A>G (p.Pro313=)
|
|
|
|
NM_004629.2(FANCG):c.948C>A (p.Ser316=)
|
rs2131055519
|
|
|
NM_004629.2(FANCG):c.954C>T (p.Ala318=)
|
|
|
|
NM_004629.2(FANCG):c.957G>A (p.Pro319=)
|
rs145092954
|
|
|
NM_004629.2(FANCG):c.957G>C (p.Pro319=)
|
rs145092954
|
|
|
NM_004629.2(FANCG):c.966C>T (p.Leu322=)
|
|
|
|
NM_004629.2(FANCG):c.979T>C (p.Leu327=)
|
rs2131055465
|
|
|
NM_004629.2(FANCG):c.982C>T (p.Leu328=)
|
rs1829086717
|
|
|
NM_004629.2(FANCG):c.984A>G (p.Leu328=)
|
rs375991144
|
|
|
NM_004629.2(FANCG):c.987G>A (p.Leu329=)
|
rs2131055445
|
|
|
NM_004629.2(FANCG):c.990A>G (p.Pro330=)
|
|
|
|
NM_004629.2(FANCG):c.993A>G (p.Pro331=)
|
|
|
|
NM_004629.2(FANCG):c.996T>A (p.Pro332=)
|
|
|
|
NM_004629.2(FANCG):c.99C>G (p.Ser33=)
|
rs762740884
|
|
|
NM_004629.2(FANCG):c.9C>G (p.Arg3=)
|
rs2131060423
|
|
|
NM_005055.5(RAPSN):c.1017A>G (p.Lys339=)
|
|
|
|
NM_005055.5(RAPSN):c.1020G>A (p.Gly340=)
|
|
|
|
NM_005055.5(RAPSN):c.102G>A (p.Glu34=)
|
rs2076432091
|
|
|
NM_005055.5(RAPSN):c.1033C>T (p.Leu345=)
|
rs778622975
|
|
|
NM_005055.5(RAPSN):c.1047T>C (p.Val349=)
|
|
|
|
NM_005055.5(RAPSN):c.1050G>A (p.Val350=)
|
|
|
|
NM_005055.5(RAPSN):c.1050G>C (p.Val350=)
|
|
|
|
NM_005055.5(RAPSN):c.1059C>T (p.His353=)
|
rs544722226
|
|
|
NM_005055.5(RAPSN):c.105G>A (p.Lys35=)
|
rs2153311746
|
|
|
NM_005055.5(RAPSN):c.1071G>A (p.Glu357=)
|
|
|
|
NM_005055.5(RAPSN):c.1074G>A (p.Glu358=)
|
|
|
|
NM_005055.5(RAPSN):c.1077G>C (p.Thr359=)
|
|
|
|
NM_005055.5(RAPSN):c.1077G>T (p.Thr359=)
|
rs565321918
|
|
|
NM_005055.5(RAPSN):c.1086C>T (p.Tyr362=)
|
rs763018407
|
|
|
NM_005055.5(RAPSN):c.108C>T (p.Ser36=)
|
|
|
|
NM_005055.5(RAPSN):c.1116G>A (p.Glu372=)
|
rs2153306751
|
|
|
NM_005055.5(RAPSN):c.1128G>A (p.Arg376=)
|
rs1194287140
|
|
|
NM_005055.5(RAPSN):c.1131G>A (p.Leu377=)
|
rs2076335581
|
|
|
NM_005055.5(RAPSN):c.1137C>T (p.Ala379=)
|
|
|
|
NM_005055.5(RAPSN):c.1138C>T (p.Leu380=)
|
|
|
|
NM_005055.5(RAPSN):c.1140A>C (p.Leu380=)
|
|
|
|
NM_005055.5(RAPSN):c.1149C>T (p.Ser383=)
|
rs765481657
|
|
|
NM_005055.5(RAPSN):c.1164C>T (p.Leu388=)
|
|
|
|
NM_005055.5(RAPSN):c.1166+10C>G
|
|
|
|
NM_005055.5(RAPSN):c.1166+10C>T
|
|
|
|
NM_005055.5(RAPSN):c.1166+13G>A
|
|
|
|
NM_005055.5(RAPSN):c.1166+13G>T
|
|
|
|
NM_005055.5(RAPSN):c.1166+14G>A
|
|
|
|
NM_005055.5(RAPSN):c.1166+14G>C
|
|
|
|
NM_005055.5(RAPSN):c.1166+15G>A
|
rs556595562
|
|
|
NM_005055.5(RAPSN):c.1166+15G>C
|
rs556595562
|
|
|
NM_005055.5(RAPSN):c.1166+15G>T
|
|
|
|
NM_005055.5(RAPSN):c.1166+16G>T
|
|
|
|
NM_005055.5(RAPSN):c.1166+17G>A
|
|
|
|
NM_005055.5(RAPSN):c.1166+18G>C
|
|
|
|
NM_005055.5(RAPSN):c.1166+19G>A
|
|
|
|
NM_005055.5(RAPSN):c.1166+7G>A
|
|
|
|
NM_005055.5(RAPSN):c.1166+7G>T
|
rs1395269562
|
|
|
NM_005055.5(RAPSN):c.1167-12T>C
|
|
|
|
NM_005055.5(RAPSN):c.1167-20A>G
|
|
|
|
NM_005055.5(RAPSN):c.1167-8C>T
|
|
|
|
NM_005055.5(RAPSN):c.1167-9C>T
|
|
|
|
NM_005055.5(RAPSN):c.1170C>T (p.Cys390=)
|
rs2153306281
|
|
|
NM_005055.5(RAPSN):c.1171C>T (p.Leu391=)
|
|
|
|
NM_005055.5(RAPSN):c.1185G>A (p.Gly395=)
|
|
|
|
NM_005055.5(RAPSN):c.1189C>A (p.Arg397=)
|
|
|
|
NM_005055.5(RAPSN):c.1218C>T (p.Ser406=)
|
|
|
|
NM_005055.5(RAPSN):c.1236A>G (p.Val412=)
|
|
|
|
NM_005055.5(RAPSN):c.123G>A (p.Gly41=)
|
|
|
|
NM_005055.5(RAPSN):c.156C>A (p.Ala52=)
|
|
|
|
NM_005055.5(RAPSN):c.156C>T (p.Ala52=)
|
|
|
|
NM_005055.5(RAPSN):c.171C>T (p.Gly57=)
|
|
|
|
NM_005055.5(RAPSN):c.174C>A (p.Arg58=)
|
rs2153311690
|
|
|
NM_005055.5(RAPSN):c.180G>A (p.Lys60=)
|
|
|
|
NM_005055.5(RAPSN):c.183G>A (p.Glu61=)
|
|
|
|
NM_005055.5(RAPSN):c.189G>A (p.Leu63=)
|
|
|
|
NM_005055.5(RAPSN):c.192+10C>A
|
rs1202888760
|
|
|
NM_005055.5(RAPSN):c.192+10C>T
|
rs1202888760
|
|
|
NM_005055.5(RAPSN):c.192+11C>T
|
|
|
|
NM_005055.5(RAPSN):c.192+12del
|
|
|
|
NM_005055.5(RAPSN):c.192+13G>A
|
|
|
|
NM_005055.5(RAPSN):c.192+17T>C
|
|
|
|
NM_005055.5(RAPSN):c.192+7G>A
|
|
|
|
NM_005055.5(RAPSN):c.192+8T>C
|
rs759724477
|
|
|
NM_005055.5(RAPSN):c.192+9dup
|
rs2153311675
|
|
|
NM_005055.5(RAPSN):c.193-10C>T
|
rs2153311437
|
|
|
NM_005055.5(RAPSN):c.193-11G>A
|
|
|
|
NM_005055.5(RAPSN):c.193-12C>T
|
|
|
|
NM_005055.5(RAPSN):c.193-16C>A
|
|
|
|
NM_005055.5(RAPSN):c.193-16C>T
|
|
|
|
NM_005055.5(RAPSN):c.193-17A>C
|
|
|
|
NM_005055.5(RAPSN):c.193-18C>T
|
|
|
|
NM_005055.5(RAPSN):c.193-4G>A
|
|
|
|
NM_005055.5(RAPSN):c.193-8G>T
|
|
|
|
NM_005055.5(RAPSN):c.198T>G (p.Ala66=)
|
rs1131389
|
|
|
NM_005055.5(RAPSN):c.210C>A (p.Ile70=)
|
|
|
|
NM_005055.5(RAPSN):c.226C>T (p.Leu76=)
|
|
|
|
NM_005055.5(RAPSN):c.228G>A (p.Leu76=)
|
rs2153311384
|
|
|
NM_005055.5(RAPSN):c.246C>G (p.Leu82=)
|
rs780420252
|
|
|
NM_005055.5(RAPSN):c.249G>A (p.Leu83=)
|
|
|
|
NM_005055.5(RAPSN):c.258C>T (p.Tyr86=)
|
|
|
|
NM_005055.5(RAPSN):c.259C>T (p.Leu87=)
|
|
|
|
NM_005055.5(RAPSN):c.265C>T (p.Leu89=)
|
|
|
|
NM_005055.5(RAPSN):c.273C>G (p.Arg91=)
|
|
|
|
NM_005055.5(RAPSN):c.279C>T (p.Asn93=)
|
rs901210204
|
|
|
NM_005055.5(RAPSN):c.27G>A (p.Gln9=)
|
rs1452323802
|
|
|
NM_005055.5(RAPSN):c.282G>A (p.Glu94=)
|
rs2153311324
|
|
|
NM_005055.5(RAPSN):c.286C>T (p.Leu96=)
|
|
|
|
NM_005055.5(RAPSN):c.294G>A (p.Glu98=)
|
rs1331228474
|
|
|
NM_005055.5(RAPSN):c.30C>A (p.Ile10=)
|
rs768838402
|
|
|
NM_005055.5(RAPSN):c.327C>T (p.Cys109=)
|
rs769245608
|
|
|
NM_005055.5(RAPSN):c.333G>T (p.Gly111=)
|
rs2153311277
|
|
|
NM_005055.5(RAPSN):c.336G>A (p.Leu112=)
|
|
|
|
NM_005055.5(RAPSN):c.336G>T (p.Leu112=)
|
rs747080013
|
|
|
NM_005055.5(RAPSN):c.339T>C (p.Pro113=)
|
|
|
|
NM_005055.5(RAPSN):c.345C>T (p.Thr115=)
|
|
|
|
NM_005055.5(RAPSN):c.354T>G (p.Gly118=)
|
|
|
|
NM_005055.5(RAPSN):c.357C>T (p.Ala119=)
|
rs1595902752
|
|
|
NM_005055.5(RAPSN):c.360G>A (p.Gln120=)
|
|
|
|
NM_005055.5(RAPSN):c.363C>G (p.Leu121=)
|
rs190548363
|
|
|
NM_005055.5(RAPSN):c.369C>T (p.Gly123=)
|
|
|
|
NM_005055.5(RAPSN):c.375C>T (p.Val125=)
|
|
|
|
NM_005055.5(RAPSN):c.379C>T (p.Leu127=)
|
|
|
|
NM_005055.5(RAPSN):c.39G>T (p.Gly13=)
|
rs770689515
|
|
|
NM_005055.5(RAPSN):c.411C>T (p.Ser137=)
|
|
|
|
NM_005055.5(RAPSN):c.423G>A (p.Lys141=)
|
rs2153311227
|
|
|
NM_005055.5(RAPSN):c.441G>A (p.Glu147=)
|
|
|
|
NM_005055.5(RAPSN):c.447C>T (p.Ala149=)
|
rs2153311191
|
|
|
NM_005055.5(RAPSN):c.450G>A (p.Leu150=)
|
|
|
|
NM_005055.5(RAPSN):c.456_457delinsCT (p.Ala153Ser)
|
rs1595902592
|
|
|
NM_005055.5(RAPSN):c.457G>T (p.Ala153Ser)
|
rs142635726
|
|
|
NM_005055.5(RAPSN):c.459C>T (p.Ala153=)
|
rs780030892
|
|
|
NM_005055.5(RAPSN):c.471T>C (p.Asp157=)
|
|
|
|
NM_005055.5(RAPSN):c.489C>T (p.Cys163=)
|
rs1202436612
|
|
|
NM_005055.5(RAPSN):c.48G>A (p.Leu16=)
|
rs2076432806
|
|
|
NM_005055.5(RAPSN):c.492C>A (p.Arg164=)
|
rs146237774
|
|
|
NM_005055.5(RAPSN):c.495G>A (p.Val165=)
|
|
|
|
NM_005055.5(RAPSN):c.495G>C (p.Val165=)
|
|
|
|
NM_005055.5(RAPSN):c.504C>T (p.Ser168=)
|
rs2153311137
|
|
|
NM_005055.5(RAPSN):c.510C>G (p.Gly170=)
|
rs1335659789
|
|
|
NM_005055.5(RAPSN):c.510C>T (p.Gly170=)
|
|
|
|
NM_005055.5(RAPSN):c.522C>T (p.Ala174=)
|
|
|
|
NM_005055.5(RAPSN):c.531+15C>G
|
|
|
|
NM_005055.5(RAPSN):c.531+17G>A
|
|
|
|
NM_005055.5(RAPSN):c.531+17G>C
|
|
|
|
NM_005055.5(RAPSN):c.531+18G>A
|
|
|
|
NM_005055.5(RAPSN):c.531+19G>C
|
|
|
|
NM_005055.5(RAPSN):c.531+20G>A
|
|
|
|
NM_005055.5(RAPSN):c.531+7C>G
|
|
|
|
NM_005055.5(RAPSN):c.531+8T>G
|
rs2153311112
|
|
|
NM_005055.5(RAPSN):c.532-17T>C
|
|
|
|
NM_005055.5(RAPSN):c.532-19C>T
|
|
|
|
NM_005055.5(RAPSN):c.532-4G>A
|
rs553983766
|
|
|
NM_005055.5(RAPSN):c.532-5T>C
|
rs1296891027
|
|
|
NM_005055.5(RAPSN):c.532-8C>T
|
|
|
|
NM_005055.5(RAPSN):c.537C>T (p.Tyr179=)
|
rs1015604630
|
|
|
NM_005055.5(RAPSN):c.549G>C (p.Leu183=)
|
rs1595899529
|
|
|
NM_005055.5(RAPSN):c.54G>A (p.Gln18=)
|
rs2153311774
|
|
|
NM_005055.5(RAPSN):c.558C>G (p.Pro186=)
|
|
|
|
NM_005055.5(RAPSN):c.570A>G (p.Ala190=)
|
rs1437018541
|
|
|
NM_005055.5(RAPSN):c.570A>T (p.Ala190=)
|
|
|
|
NM_005055.5(RAPSN):c.573G>A (p.Glu191=)
|
|
|
|
NM_005055.5(RAPSN):c.609G>A (p.Lys203=)
|
rs2153309106
|
|
|
NM_005055.5(RAPSN):c.612C>T (p.Tyr204=)
|
|
|
|
NM_005055.5(RAPSN):c.639C>T (p.Ala213=)
|
|
|
|
NM_005055.5(RAPSN):c.648T>C (p.Tyr216=)
|
|
|
|
NM_005055.5(RAPSN):c.664C>T (p.Leu222=)
|
|
|
|
NM_005055.5(RAPSN):c.669C>T (p.Gly223=)
|
rs1168766907
|
|
|
NM_005055.5(RAPSN):c.66A>C (p.Thr22=)
|
|
|
|
NM_005055.5(RAPSN):c.66A>G (p.Thr22=)
|
|
|
|
NM_005055.5(RAPSN):c.675C>T (p.Ala225=)
|
|
|
|
NM_005055.5(RAPSN):c.690+10C>G
|
rs78293924
|
|
|
NM_005055.5(RAPSN):c.690+11G>A
|
|
|
|
NM_005055.5(RAPSN):c.690+14G>A
|
|
|
|
NM_005055.5(RAPSN):c.690+18G>A
|
|
|
|
NM_005055.5(RAPSN):c.691-10del
|
|
|
|
NM_005055.5(RAPSN):c.691-11C>T
|
|
|
|
NM_005055.5(RAPSN):c.691-16C>G
|
|
|
|
NM_005055.5(RAPSN):c.691-20G>A
|
|
|
|
NM_005055.5(RAPSN):c.691-4G>A
|
|
|
|
NM_005055.5(RAPSN):c.691-4G>T
|
rs886048388
|
|
|
NM_005055.5(RAPSN):c.691-7C>A
|
rs2153308712
|
|
|
NM_005055.5(RAPSN):c.691-7del
|
|
|
|
NM_005055.5(RAPSN):c.709C>T (p.Leu237=)
|
|
|
|
NM_005055.5(RAPSN):c.714G>A (p.Gln238=)
|
rs2153308678
|
|
|
NM_005055.5(RAPSN):c.735G>A (p.Gln245=)
|
|
|
|
NM_005055.5(RAPSN):c.738G>T (p.Ala246=)
|
rs889862832
|
|
|
NM_005055.5(RAPSN):c.744C>T (p.Cys248=)
|
rs780224551
|
|
|
NM_005055.5(RAPSN):c.745C>T (p.Leu249=)
|
|
|
|
NM_005055.5(RAPSN):c.747G>C (p.Leu249=)
|
rs1398686820
|
|
|
NM_005055.5(RAPSN):c.750C>T (p.Leu250=)
|
rs2153308626
|
|
|
NM_005055.5(RAPSN):c.75A>G (p.Ala25=)
|
|
|
|
NM_005055.5(RAPSN):c.765C>A (p.Ile255=)
|
rs1432435738
|
|
|
NM_005055.5(RAPSN):c.768C>T (p.His256=)
|
rs757302008
|
|
|
NM_005055.5(RAPSN):c.76T>C (p.Leu26=)
|
rs202091676
|
|
|
NM_005055.5(RAPSN):c.774C>T (p.Ser258=)
|
rs2153308610
|
|
|
NM_005055.5(RAPSN):c.783C>T (p.Asp261=)
|
rs2076367030
|
|
|
NM_005055.5(RAPSN):c.784C>T (p.Leu262=)
|
|
|
|
NM_005055.5(RAPSN):c.789+11C>G
|
|
|
|
NM_005055.5(RAPSN):c.789+11C>T
|
|
|
|
NM_005055.5(RAPSN):c.789+12G>A
|
|
|
|
NM_005055.5(RAPSN):c.789+17G>T
|
|
|
|
NM_005055.5(RAPSN):c.789+8C>G
|
|
|
|
NM_005055.5(RAPSN):c.789_789+15dup
|
rs780882080
|
|
|
NM_005055.5(RAPSN):c.78G>A (p.Leu26=)
|
rs750811979
|
|
|
NM_005055.5(RAPSN):c.790-12C>G
|
|
|
|
NM_005055.5(RAPSN):c.790-13C>T
|
|
|
|
NM_005055.5(RAPSN):c.790-15C>A
|
|
|
|
NM_005055.5(RAPSN):c.790-15C>G
|
rs752816353
|
|
|
NM_005055.5(RAPSN):c.790-15C>T
|
|
|
|
NM_005055.5(RAPSN):c.790-17C>G
|
|
|
|
NM_005055.5(RAPSN):c.790-17C>T
|
|
|
|
NM_005055.5(RAPSN):c.790-19C>A
|
|
|
|
NM_005055.5(RAPSN):c.790-6C>T
|
rs2076365864
|
|
|
NM_005055.5(RAPSN):c.790-9G>C
|
|
|
|
NM_005055.5(RAPSN):c.798C>T (p.Phe266=)
|
rs1487536762
|
|
|
NM_005055.5(RAPSN):c.807C>T (p.Tyr269=)
|
rs104894301
|
|
|
NM_005055.5(RAPSN):c.822C>T (p.Ser274=)
|
|
|
|
NM_005055.5(RAPSN):c.825C>T (p.Ile275=)
|
|
|
|
NM_005055.5(RAPSN):c.831C>A (p.Thr277=)
|
rs148078235
|
|
|
NM_005055.5(RAPSN):c.834G>A (p.Glu278=)
|
|
|
|
NM_005055.5(RAPSN):c.837C>T (p.Ile279=)
|
rs755310896
|
|
|
NM_005055.5(RAPSN):c.846C>T (p.Arg282=)
|
rs1595898465
|
|
|
NM_005055.5(RAPSN):c.847C>T (p.Leu283=)
|
rs761730497
|
|
|
NM_005055.5(RAPSN):c.864G>T (p.Ala288=)
|
|
|
|
NM_005055.5(RAPSN):c.865C>T (p.Leu289=)
|
rs2153308454
|
|
|
NM_005055.5(RAPSN):c.867G>A (p.Leu289=)
|
|
|
|
NM_005055.5(RAPSN):c.868C>T (p.Leu290=)
|
|
|
|
NM_005055.5(RAPSN):c.894C>T (p.Ala298=)
|
|
|
|
NM_005055.5(RAPSN):c.897G>A (p.Arg299=)
|
|
|
|
NM_005055.5(RAPSN):c.903G>T (p.Ala301=)
|
|
|
|
NM_005055.5(RAPSN):c.912+11G>A
|
|
|
|
NM_005055.5(RAPSN):c.912+15T>C
|
|
|
|
NM_005055.5(RAPSN):c.912+18C>T
|
|
|
|
NM_005055.5(RAPSN):c.912+9G>A
|
rs751790521
|
|
|
NM_005055.5(RAPSN):c.912+9G>C
|
|
|
|
NM_005055.5(RAPSN):c.912+9G>T
|
rs751790521
|
|
|
NM_005055.5(RAPSN):c.913-4C>T
|
|
|
|
NM_005055.5(RAPSN):c.913-7del
|
|
|
|
NM_005055.5(RAPSN):c.913-8C>A
|
rs2153308235
|
|
|
NM_005055.5(RAPSN):c.915T>C (p.Ala305=)
|
|
|
|
NM_005055.5(RAPSN):c.916C>T (p.Leu306=)
|
rs1262478144
|
|
|
NM_005055.5(RAPSN):c.924C>T (p.Ala308=)
|
|
|
|
NM_005055.5(RAPSN):c.948C>A (p.Ala316=)
|
rs374676714
|
|
|
NM_005055.5(RAPSN):c.966+14C>G
|
|
|
|
NM_005055.5(RAPSN):c.966+19T>C
|
|
|
|
NM_005055.5(RAPSN):c.966+7C>G
|
rs1595898047
|
|
|
NM_005055.5(RAPSN):c.966+7C>T
|
|
|
|
NM_005055.5(RAPSN):c.967-19C>G
|
|
|
|
NM_005055.5(RAPSN):c.967-20T>C
|
|
|
|
NM_005055.5(RAPSN):c.967-4C>G
|
|
|
|
NM_005055.5(RAPSN):c.967-5C>A
|
|
|
|
NM_005055.5(RAPSN):c.967-5C>T
|
rs374686678
|
|
|
NM_005055.5(RAPSN):c.967-6C>A
|
|
|
|
NM_005055.5(RAPSN):c.967-7G>A
|
|
|
|
NM_005055.5(RAPSN):c.967-7G>C
|
rs1374385127
|
|
|
NM_005055.5(RAPSN):c.967-7G>T
|
rs1374385127
|
|
|
NM_005055.5(RAPSN):c.967-9G>C
|
|
|
|
NM_005055.5(RAPSN):c.96G>T (p.Val32=)
|
rs2076432156
|
|
|
NM_005055.5(RAPSN):c.972C>T (p.Ser324=)
|
rs2076338821
|
|
|
NM_005055.5(RAPSN):c.975G>A (p.Gln325=)
|
rs528431446
|
|
|
NM_005055.5(RAPSN):c.984G>A (p.Leu328=)
|
|
|
|
NM_005055.5(RAPSN):c.984G>T (p.Leu328=)
|
rs1469910398
|
|
|
NM_005055.5(RAPSN):c.991C>T (p.Leu331=)
|
rs1595896703
|
|
|
NM_005055.5(RAPSN):c.993G>T (p.Leu331=)
|
rs867698000
|
|
|
NM_005055.5(RAPSN):c.996C>T (p.Ser332=)
|
|
|
|
NM_005055.5(RAPSN):c.999G>A (p.Glu333=)
|
|
|
|
NM_005055.5(RAPSN):c.99G>A (p.Leu33=)
|
rs2153311752
|
|
|
NM_005105.5(RBM8A):c.127+19G>A
|
|
|
|
NM_005105.5(RBM8A):c.128-17G>C
|
|
|
|
NM_005105.5(RBM8A):c.128-7C>T
|
rs190827695
|
|
|
NM_005105.5(RBM8A):c.138C>T (p.Ser46=)
|
|
|
|
NM_005105.5(RBM8A):c.177G>A (p.Gln59=)
|
|
|
|
NM_005105.5(RBM8A):c.206-14C>G
|
|
|
|
NM_005105.5(RBM8A):c.206-18C>G
|
|
|
|
NM_005105.5(RBM8A):c.255C>T (p.Thr85=)
|
|
|
|
NM_005105.5(RBM8A):c.279C>T (p.Phe93=)
|
|
|
|
NM_005105.5(RBM8A):c.342+8_342+11del
|
|
|
|
NM_005105.5(RBM8A):c.343-13T>C
|
|
|
|
NM_005105.5(RBM8A):c.343-17C>T
|
|
|
|
NM_005105.5(RBM8A):c.343-19G>C
|
|
|
|
NM_005105.5(RBM8A):c.345G>A (p.Gly115=)
|
|
|
|
NM_005105.5(RBM8A):c.45C>T (p.Phe15=)
|
|
|
|
NM_005105.5(RBM8A):c.479+12A>G
|
|
|
|
NM_005105.5(RBM8A):c.480-5C>T
|
|
|
|
NM_005105.5(RBM8A):c.480-8T>G
|
|
|
|
NM_005105.5(RBM8A):c.67+11T>C
|
|
|
|
NM_005105.5(RBM8A):c.67+13G>A
|
|
|
|
NM_005105.5(RBM8A):c.67+17C>T
|
|
|
|
NM_005105.5(RBM8A):c.68-15C>T
|
|
|
|
NM_005105.5(RBM8A):c.68-18T>C
|
|
|
|
NM_005105.5(RBM8A):c.68-4C>T
|
rs782317229
|
|
|
NM_005105.5(RBM8A):c.6G>C (p.Ala2=)
|
|
|
|
NM_005236.3(ERCC4):c.1002G>A (p.Ser334=)
|
|
|
|
NM_005236.3(ERCC4):c.1002G>C (p.Ser334=)
|
rs1162384254
|
|
|
NM_005236.3(ERCC4):c.1031A>T (p.Tyr344Phe)
|
rs145851520
|
|
|
NM_005236.3(ERCC4):c.1062A>G (p.Lys354=)
|
|
|
|
NM_005236.3(ERCC4):c.1071A>T (p.Ile357=)
|
|
|
|
NM_005236.3(ERCC4):c.1089T>C (p.Ile363=)
|
|
|
|
NM_005236.3(ERCC4):c.1102+14T>C
|
|
|
|
NM_005236.3(ERCC4):c.1102+20C>T
|
|
|
|
NM_005236.3(ERCC4):c.1107A>T (p.Thr369=)
|
|
|
|
NM_005236.3(ERCC4):c.114G>A (p.Gly38=)
|
|
|
|
NM_005236.3(ERCC4):c.1152G>A (p.Leu384=)
|
|
|
|
NM_005236.3(ERCC4):c.1213+8A>G
|
|
|
|
NM_005236.3(ERCC4):c.1214-10C>A
|
|
|
|
NM_005236.3(ERCC4):c.1214-8A>G
|
|
|
|
NM_005236.3(ERCC4):c.1258C>T (p.Leu420=)
|
rs2141606819
|
|
|
NM_005236.3(ERCC4):c.129G>A (p.Arg43=)
|
|
|
|
NM_005236.3(ERCC4):c.1317C>T (p.Thr439=)
|
|
|
|
NM_005236.3(ERCC4):c.1320T>C (p.Phe440=)
|
rs2141606968
|
|
|
NM_005236.3(ERCC4):c.132C>T (p.Leu44=)
|
rs1482378244
|
|
|
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln)
|
rs547209644
|
|
|
NM_005236.3(ERCC4):c.1347C>G (p.Val449=)
|
rs1352012558
|
|
|
NM_005236.3(ERCC4):c.1371C>T (p.Asp457=)
|
|
|
|
NM_005236.3(ERCC4):c.1380G>A (p.Lys460=)
|
|
|
|
NM_005236.3(ERCC4):c.1429C>A (p.Arg477=)
|
|
|
|
NM_005236.3(ERCC4):c.147C>T (p.Leu49=)
|
|
|
|
NM_005236.3(ERCC4):c.1497A>G (p.Gly499=)
|
|
|
|
NM_005236.3(ERCC4):c.1599A>G (p.Glu533=)
|
|
|
|
NM_005236.3(ERCC4):c.1620G>T (p.Ser540=)
|
|
|
|
NM_005236.3(ERCC4):c.1650C>T (p.Pro550=)
|
|
|
|
NM_005236.3(ERCC4):c.165A>G (p.Pro55=)
|
|
|
|
NM_005236.3(ERCC4):c.1677T>C (p.Gly559=)
|
rs776049363
|
|
|
NM_005236.3(ERCC4):c.1689C>G (p.Pro563=)
|
|
|
|
NM_005236.3(ERCC4):c.1698G>A (p.Leu566=)
|
rs2141607987
|
|
|
NM_005236.3(ERCC4):c.1743T>C (p.Tyr581=)
|
|
|
|
NM_005236.3(ERCC4):c.1767G>A (p.Arg589=)
|
|
|
|
NM_005236.3(ERCC4):c.1788G>A (p.Ala596=)
|
rs374303503
|
|
|
NM_005236.3(ERCC4):c.1788G>C (p.Ala596=)
|
|
|
|
NM_005236.3(ERCC4):c.178C>T (p.Leu60=)
|
rs2141937412
|
|
|
NM_005236.3(ERCC4):c.1811+16T>C
|
|
|
|
NM_005236.3(ERCC4):c.1811+9T>A
|
|
|
|
NM_005236.3(ERCC4):c.1811+9T>G
|
rs1235957230
|
|
|
NM_005236.3(ERCC4):c.1812-17T>C
|
rs1399858595
|
|
|
NM_005236.3(ERCC4):c.1812-6A>G
|
|
|
|
NM_005236.3(ERCC4):c.183G>A (p.Val61=)
|
rs1215558892
|
|
|
NM_005236.3(ERCC4):c.1899C>T (p.Leu633=)
|
rs954215121
|
|
|
NM_005236.3(ERCC4):c.1904+7C>T
|
|
|
|
NM_005236.3(ERCC4):c.1905-20G>C
|
|
|
|
NM_005236.3(ERCC4):c.1905-4A>G
|
|
|
|
NM_005236.3(ERCC4):c.1983A>T (p.Ala661=)
|
|
|
|
NM_005236.3(ERCC4):c.1998C>T (p.Ser666=)
|
rs2141617128
|
|
|
NM_005236.3(ERCC4):c.2017+19del
|
|
|
|
NM_005236.3(ERCC4):c.2018-19A>T
|
|
|
|
NM_005236.3(ERCC4):c.2067T>C (p.Arg689=)
|
|
|
|
NM_005236.3(ERCC4):c.207+13T>A
|
rs759023704
|
|
|
NM_005236.3(ERCC4):c.207+13T>C
|
rs759023704
|
|
|
NM_005236.3(ERCC4):c.207+16C>G
|
|
|
|
NM_005236.3(ERCC4):c.207+19G>T
|
|
|
|
NM_005236.3(ERCC4):c.208-19C>G
|
|
|
|
NM_005236.3(ERCC4):c.208-6A>G
|
rs1596617926
|
|
|
NM_005236.3(ERCC4):c.208-7G>T
|
|
|
|
NM_005236.3(ERCC4):c.2097C>A (p.Ile699=)
|
|
|
|
NM_005236.3(ERCC4):c.2124C>A (p.Pro708=)
|
rs376391395
|
|
|
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=)
|
rs376391395
|
|
|
NM_005236.3(ERCC4):c.2169C>T (p.Cys723=)
|
rs2020959
|
|
|
NM_005236.3(ERCC4):c.2187C>T (p.Ile729=)
|
|
|
|
NM_005236.3(ERCC4):c.2214C>T (p.Asn738=)
|
|
|
|
NM_005236.3(ERCC4):c.2226C>T (p.Tyr742=)
|
rs1193180379
|
|
|
NM_005236.3(ERCC4):c.22C>A (p.Arg8=)
|
rs774510191
|
|
|
NM_005236.3(ERCC4):c.2307C>T (p.Leu769=)
|
rs765321722
|
|
|
NM_005236.3(ERCC4):c.2328T>C (p.Phe776=)
|
|
|
|
NM_005236.3(ERCC4):c.2394A>G (p.Leu798=)
|
rs111613748
|
|
|
NM_005236.3(ERCC4):c.2403C>T (p.Leu801=)
|
|
|
|
NM_005236.3(ERCC4):c.241G>A (p.Val81Ile)
|
rs55761944
|
|
|
NM_005236.3(ERCC4):c.2448G>A (p.Leu816=)
|
rs1031792719
|
|
|
NM_005236.3(ERCC4):c.2478G>A (p.Ala826=)
|
rs1417783312
|
|
|
NM_005236.3(ERCC4):c.2535T>C (p.Asn845=)
|
|
|
|
NM_005236.3(ERCC4):c.2574G>A (p.Val858=)
|
rs753126294
|
|
|
NM_005236.3(ERCC4):c.2619C>T (p.Ile873=)
|
rs759042927
|
|
|
NM_005236.3(ERCC4):c.2635C>T (p.Leu879=)
|
|
|
|
NM_005236.3(ERCC4):c.2640A>G (p.Ser880=)
|
|
|
|
NM_005236.3(ERCC4):c.2670T>C (p.Asn890=)
|
|
|
|
NM_005236.3(ERCC4):c.2691T>C (p.Leu897=)
|
|
|
|
NM_005236.3(ERCC4):c.2697T>C (p.Asp899=)
|
|
|
|
NM_005236.3(ERCC4):c.2706C>T (p.His902=)
|
|
|
|
NM_005236.3(ERCC4):c.2724C>G (p.Val908=)
|
|
|
|
NM_005236.3(ERCC4):c.303C>T (p.Tyr101=)
|
|
|
|
NM_005236.3(ERCC4):c.306A>G (p.Thr102=)
|
|
|
|
NM_005236.3(ERCC4):c.327G>A (p.Ala109=)
|
|
|
|
NM_005236.3(ERCC4):c.336G>A (p.Arg112=)
|
|
|
|
NM_005236.3(ERCC4):c.355T>C (p.Leu119=)
|
|
|
|
NM_005236.3(ERCC4):c.363T>C (p.Asp121=)
|
|
|
|
NM_005236.3(ERCC4):c.372T>C (p.Pro124=)
|
rs780096152
|
|
|
NM_005236.3(ERCC4):c.381A>G (p.Leu127=)
|
|
|
|
NM_005236.3(ERCC4):c.388+13A>G
|
rs2078004740
|
|
|
NM_005236.3(ERCC4):c.388+15T>C
|
|
|
|
NM_005236.3(ERCC4):c.388+20_388+25del
|
|
|
|
NM_005236.3(ERCC4):c.389-5C>A
|
|
|
|
NM_005236.3(ERCC4):c.389-8C>G
|
rs1325456652
|
|
|
NM_005236.3(ERCC4):c.402T>C (p.Tyr134=)
|
|
|
|
NM_005236.3(ERCC4):c.412A>C (p.Arg138=)
|
|
|
|
NM_005236.3(ERCC4):c.420C>T (p.Ile140=)
|
rs138724289
|
|
|
NM_005236.3(ERCC4):c.42G>A (p.Pro14=)
|
rs2141936987
|
|
|
NM_005236.3(ERCC4):c.43C>T (p.Leu15=)
|
|
|
|
NM_005236.3(ERCC4):c.503C>G (p.Ala168Gly)
|
rs2020961
|
|
|
NM_005236.3(ERCC4):c.503C>T (p.Ala168Val)
|
rs2020961
|
|
|
NM_005236.3(ERCC4):c.534G>T (p.Val178=)
|
rs957009045
|
|
|
NM_005236.3(ERCC4):c.555T>C (p.Leu185=)
|
rs113129434
|
|
|
NM_005236.3(ERCC4):c.561G>A (p.Val187=)
|
|
|
|
NM_005236.3(ERCC4):c.576G>C (p.Leu192=)
|
rs2141944936
|
|
|
NM_005236.3(ERCC4):c.585-18A>C
|
|
|
|
NM_005236.3(ERCC4):c.591T>C (p.His197=)
|
|
|
|
NM_005236.3(ERCC4):c.681T>G (p.Thr227=)
|
|
|
|
NM_005236.3(ERCC4):c.705A>G (p.Ala235=)
|
rs2032105533
|
|
|
NM_005236.3(ERCC4):c.711A>G (p.Leu237=)
|
|
|
|
NM_005236.3(ERCC4):c.792+7T>C
|
|
|
|
NM_005236.3(ERCC4):c.793-17T>C
|
rs2141948343
|
|
|
NM_005236.3(ERCC4):c.793-18A>G
|
|
|
|
NM_005236.3(ERCC4):c.816T>A (p.Pro272=)
|
rs2141948404
|
|
|
NM_005236.3(ERCC4):c.81C>T (p.Leu27=)
|
|
|
|
NM_005236.3(ERCC4):c.837C>G (p.Ala279=)
|
rs2032156289
|
|
|
NM_005236.3(ERCC4):c.846A>G (p.Lys282=)
|
|
|
|
NM_005236.3(ERCC4):c.871T>C (p.Leu291=)
|
|
|
|
NM_005236.3(ERCC4):c.96A>G (p.Leu32=)
|
|
|
|
NM_005236.3(ERCC4):c.973+17C>T
|
|
|
|
NM_005236.3(ERCC4):c.973+20A>G
|
|
|
|
NM_005236.3(ERCC4):c.973+7G>A
|
rs1216362714
|
|
|
NM_005236.3(ERCC4):c.974-20_974-16del
|
rs2141949732
|
|
|
NM_005236.3(ERCC4):c.974-8C>T
|
rs1567245872
|
|
|
NM_005236.3(ERCC4):c.981G>A (p.Leu327=)
|
|
|
|
NM_005236.3(ERCC4):c.9A>C (p.Ser3=)
|
|
|
|
NM_005445.4(SMC3):c.1032G>C (p.Leu344=)
|
|
|
|
NM_005445.4(SMC3):c.1050A>G (p.Lys350=)
|
|
|
|
NM_005445.4(SMC3):c.1091+17C>T
|
|
|
|
NM_005445.4(SMC3):c.1091+19A>G
|
|
|
|
NM_005445.4(SMC3):c.1101A>G (p.Gln367=)
|
|
|
|
NM_005445.4(SMC3):c.1113A>G (p.Glu371=)
|
|
|
|
NM_005445.4(SMC3):c.1119G>A (p.Thr373=)
|
|
|
|
NM_005445.4(SMC3):c.130+17G>T
|
|
|
|
NM_005445.4(SMC3):c.131-20A>G
|
|
|
|
NM_005445.4(SMC3):c.1338T>C (p.Ala446=)
|
|
|
|
NM_005445.4(SMC3):c.1393C>T (p.Leu465=)
|
|
|
|
NM_005445.4(SMC3):c.1407A>G (p.Arg469=)
|
|
|
|
NM_005445.4(SMC3):c.1409+19G>A
|
|
|
|
NM_005445.4(SMC3):c.1409+20_1409+21del
|
|
|
|
NM_005445.4(SMC3):c.1409+8T>C
|
|
|
|
NM_005445.4(SMC3):c.1410-6_1410-3del
|
rs546049291
|
|
|
NM_005445.4(SMC3):c.15+11C>T
|
|
|
|
NM_005445.4(SMC3):c.15+12G>A
|
|
|
|
NM_005445.4(SMC3):c.15+8C>G
|
|
|
|
NM_005445.4(SMC3):c.1510-7C>A
|
|
|
|
NM_005445.4(SMC3):c.1575C>T (p.Asn525=)
|
|
|
|
NM_005445.4(SMC3):c.1584T>C (p.Val528=)
|
|
|
|
NM_005445.4(SMC3):c.16-16G>A
|
|
|
|
NM_005445.4(SMC3):c.1644A>G (p.Thr548=)
|
|
|
|
NM_005445.4(SMC3):c.1670+20A>G
|
|
|
|
NM_005445.4(SMC3):c.1670+6del
|
|
|
|
NM_005445.4(SMC3):c.1797C>A (p.Ala599=)
|
|
|
|
NM_005445.4(SMC3):c.1803T>C (p.Pro601=)
|
|
|
|
NM_005445.4(SMC3):c.1812+16A>T
|
|
|
|
NM_005445.4(SMC3):c.1813-19G>A
|
|
|
|
NM_005445.4(SMC3):c.1890T>A (p.Thr630=)
|
rs79046607
|
|
|
NM_005445.4(SMC3):c.1964-13G>A
|
|
|
|
NM_005445.4(SMC3):c.1964-15_1964-14del
|
|
|
|
NM_005445.4(SMC3):c.1964-17A>G
|
|
|
|
NM_005445.4(SMC3):c.198+3G>A
|
rs533706811
|
|
|
NM_005445.4(SMC3):c.199-15T>G
|
|
|
|
NM_005445.4(SMC3):c.2116+10T>A
|
|
|
|
NM_005445.4(SMC3):c.2117-15C>T
|
|
|
|
NM_005445.4(SMC3):c.2226A>G (p.Leu742=)
|
|
|
|
NM_005445.4(SMC3):c.2428-6T>A
|
|
|
|
NM_005445.4(SMC3):c.2535+11G>T
|
|
|
|
NM_005445.4(SMC3):c.2535+13T>G
|
|
|
|
NM_005445.4(SMC3):c.2535+15_2535+16insG
|
|
|
|
NM_005445.4(SMC3):c.2535+9G>T
|
|
|
|
NM_005445.4(SMC3):c.2645-13C>T
|
|
|
|
NM_005445.4(SMC3):c.2645-17G>T
|
|
|
|
NM_005445.4(SMC3):c.264G>T (p.Arg88=)
|
|
|
|
NM_005445.4(SMC3):c.2658C>T (p.Ser886=)
|
rs2134752535
|
|
|
NM_005445.4(SMC3):c.2670A>G (p.Thr890=)
|
|
|
|
NM_005445.4(SMC3):c.2688G>A (p.Glu896=)
|
|
|
|
NM_005445.4(SMC3):c.271-12A>G
|
|
|
|
NM_005445.4(SMC3):c.271-6T>G
|
|
|
|
NM_005445.4(SMC3):c.2733T>C (p.His911=)
|
|
|
|
NM_005445.4(SMC3):c.273C>T (p.Ile91=)
|
|
|
|
NM_005445.4(SMC3):c.2802G>A (p.Lys934=)
|
|
|
|
NM_005445.4(SMC3):c.2835A>G (p.Glu945=)
|
|
|
|
NM_005445.4(SMC3):c.2893-15A>G
|
|
|
|
NM_005445.4(SMC3):c.2943T>C (p.His981=)
|
|
|
|
NM_005445.4(SMC3):c.2982C>G (p.Ser994=)
|
|
|
|
NM_005445.4(SMC3):c.3072G>T (p.Arg1024=)
|
|
|
|
NM_005445.4(SMC3):c.309T>C (p.Gly103=)
|
|
|
|
NM_005445.4(SMC3):c.3105+15G>A
|
|
|
|
NM_005445.4(SMC3):c.3106-10T>C
|
|
|
|
NM_005445.4(SMC3):c.3106-8_3106-4del
|
|
|
|
NM_005445.4(SMC3):c.3252A>G (p.Gln1084=)
|
|
|
|
NM_005445.4(SMC3):c.33T>C (p.Phe11=)
|
|
|
|
NM_005445.4(SMC3):c.3408G>A (p.Pro1136=)
|
|
|
|
NM_005445.4(SMC3):c.3411T>A (p.Ala1137=)
|
|
|
|
NM_005445.4(SMC3):c.3411T>C (p.Ala1137=)
|
|
|
|
NM_005445.4(SMC3):c.3475+12G>A
|
|
|
|
NM_005445.4(SMC3):c.3476-18A>G
|
|
|
|
NM_005445.4(SMC3):c.350+12T>C
|
|
|
|
NM_005445.4(SMC3):c.350+19T>C
|
|
|
|
NM_005445.4(SMC3):c.351-13T>C
|
|
|
|
NM_005445.4(SMC3):c.3528G>A (p.Arg1176=)
|
|
|
|
NM_005445.4(SMC3):c.3534A>G (p.Glu1178=)
|
|
|
|
NM_005445.4(SMC3):c.3549T>C (p.Ala1183=)
|
|
|
|
NM_005445.4(SMC3):c.3582+18T>C
|
|
|
|
NM_005445.4(SMC3):c.3582+19_3582+24del
|
rs758854216
|
|
|
NM_005445.4(SMC3):c.3583-19T>C
|
|
|
|
NM_005445.4(SMC3):c.3600G>T (p.Val1200=)
|
|
|
|
NM_005445.4(SMC3):c.363G>A (p.Val121=)
|
|
|
|
NM_005445.4(SMC3):c.381C>T (p.Ser127=)
|
|
|
|
NM_005445.4(SMC3):c.384T>C (p.Ala128=)
|
|
|
|
NM_005445.4(SMC3):c.429+19C>A
|
|
|
|
NM_005445.4(SMC3):c.429+19C>T
|
|
|
|
NM_005445.4(SMC3):c.430-18T>A
|
|
|
|
NM_005445.4(SMC3):c.430-19A>T
|
|
|
|
NM_005445.4(SMC3):c.548-8C>A
|
|
|
|
NM_005445.4(SMC3):c.548-8C>G
|
|
|
|
NM_005445.4(SMC3):c.577T>C (p.Leu193=)
|
|
|
|
NM_005445.4(SMC3):c.588T>C (p.Ile196=)
|
|
|
|
NM_005445.4(SMC3):c.69C>T (p.Phe23=)
|
|
|
|
NM_005445.4(SMC3):c.723+20C>T
|
|
|
|
NM_005445.4(SMC3):c.724-15T>G
|
|
|
|
NM_005445.4(SMC3):c.804+14C>T
|
|
|
|
NM_005445.4(SMC3):c.909T>G (p.Thr303=)
|
|
|
|
NM_005445.4(SMC3):c.92-18del
|
|
|
|
NM_005445.4(SMC3):c.945A>G (p.Glu315=)
|
|
|
|
NM_005445.4(SMC3):c.969+14C>T
|
|
|
|
NM_005445.4(SMC3):c.969+16A>G
|
rs2134726700
|
|
|
NM_005445.4(SMC3):c.969+17A>G
|
|
|
|
NM_005445.4(SMC3):c.970-4A>G
|
|
|
|
NM_005592.4(MUSK):c.1005T>A (p.Val335=)
|
|
|
|
NM_005592.4(MUSK):c.1044A>G (p.Gln348=)
|
|
|
|
NM_005592.4(MUSK):c.1056C>T (p.Val352=)
|
|
|
|
NM_005592.4(MUSK):c.1065C>G (p.Ala355=)
|
|
|
|
NM_005592.4(MUSK):c.108A>G (p.Thr36=)
|
|
|
|
NM_005592.4(MUSK):c.1098C>T (p.Cys366=)
|
|
|
|
NM_005592.4(MUSK):c.1131C>T (p.His377=)
|
|
|
|
NM_005592.4(MUSK):c.117C>T (p.Ala39=)
|
|
|
|
NM_005592.4(MUSK):c.1184+10C>G
|
rs2131956685
|
|
|
NM_005592.4(MUSK):c.1184+15A>C
|
|
|
|
NM_005592.4(MUSK):c.1184+20T>C
|
|
|
|
NM_005592.4(MUSK):c.1185-12A>G
|
|
|
|
NM_005592.4(MUSK):c.1185-14del
|
|
|
|
NM_005592.4(MUSK):c.1185-15C>T
|
|
|
|
NM_005592.4(MUSK):c.1185-17T>A
|
|
|
|
NM_005592.4(MUSK):c.1185-19T>A
|
|
|
|
NM_005592.4(MUSK):c.1185-19T>C
|
|
|
|
NM_005592.4(MUSK):c.1185-7A>G
|
|
|
|
NM_005592.4(MUSK):c.1185-8T>G
|
rs371124725
|
|
|
NM_005592.4(MUSK):c.1185-9C>T
|
|
|
|
NM_005592.4(MUSK):c.1197G>A (p.Leu399=)
|
|
|
|
NM_005592.4(MUSK):c.1203A>G (p.Val401=)
|
rs1356218784
|
|
|
NM_005592.4(MUSK):c.1212C>A (p.Leu404=)
|
|
|
|
NM_005592.4(MUSK):c.1218C>T (p.Cys406=)
|
rs368395413
|
|
|
NM_005592.4(MUSK):c.1224A>G (p.Lys408=)
|
rs1588025437
|
|
|
NM_005592.4(MUSK):c.1233G>A (p.Leu411=)
|
|
|
|
NM_005592.4(MUSK):c.1266C>T (p.Tyr422=)
|
|
|
|
NM_005592.4(MUSK):c.1287G>C (p.Leu429=)
|
|
|
|
NM_005592.4(MUSK):c.12C>A (p.Leu4=)
|
rs374456998
|
|
|
NM_005592.4(MUSK):c.12C>G (p.Leu4=)
|
|
|
|
NM_005592.4(MUSK):c.12C>T (p.Leu4=)
|
rs374456998
|
|
|
NM_005592.4(MUSK):c.132G>A (p.Val44=)
|
|
|
|
NM_005592.4(MUSK):c.1360+11G>C
|
|
|
|
NM_005592.4(MUSK):c.1360+13T>C
|
|
|
|
NM_005592.4(MUSK):c.1360+14C>T
|
|
|
|
NM_005592.4(MUSK):c.1360+18C>T
|
|
|
|
NM_005592.4(MUSK):c.1360+20A>G
|
|
|
|
NM_005592.4(MUSK):c.1360+7C>G
|
|
|
|
NM_005592.4(MUSK):c.1360+7_1360+8del
|
rs780843719
|
|
|
NM_005592.4(MUSK):c.1361-13C>A
|
|
|
|
NM_005592.4(MUSK):c.1361-7C>T
|
|
|
|
NM_005592.4(MUSK):c.1377C>T (p.Asn459=)
|
|
|
|
NM_005592.4(MUSK):c.1384+12T>C
|
|
|
|
NM_005592.4(MUSK):c.1384+14T>C
|
|
|
|
NM_005592.4(MUSK):c.1384+20C>G
|
|
|
|
NM_005592.4(MUSK):c.1384+9T>C
|
|
|
|
NM_005592.4(MUSK):c.1385-12C>A
|
|
|
|
NM_005592.4(MUSK):c.1386A>G (p.Thr462=)
|
|
|
|
NM_005592.4(MUSK):c.1401G>A (p.Thr467=)
|
|
|
|
NM_005592.4(MUSK):c.1401G>T (p.Thr467=)
|
rs761610023
|
|
|
NM_005592.4(MUSK):c.1416T>C (p.Ser472=)
|
|
|
|
NM_005592.4(MUSK):c.141C>T (p.Phe47=)
|
|
|
|
NM_005592.4(MUSK):c.1434G>A (p.Leu478=)
|
|
|
|
NM_005592.4(MUSK):c.1446C>G (p.Ser482=)
|
rs754903785
|
|
|
NM_005592.4(MUSK):c.1452T>C (p.Ser484=)
|
rs1588037471
|
|
|
NM_005592.4(MUSK):c.1455C>T (p.Ser485=)
|
|
|
|
NM_005592.4(MUSK):c.1461T>C (p.Ser487=)
|
|
|
|
NM_005592.4(MUSK):c.1473A>G (p.Thr491=)
|
|
|
|
NM_005592.4(MUSK):c.147T>C (p.Cys49=)
|
|
|
|
NM_005592.4(MUSK):c.1545C>T (p.Leu515=)
|
rs868435163
|
|
|
NM_005592.4(MUSK):c.1586+12G>A
|
|
|
|
NM_005592.4(MUSK):c.1586+15dup
|
|
|
|
NM_005592.4(MUSK):c.1586+16C>T
|
|
|
|
NM_005592.4(MUSK):c.1586+7T>C
|
|
|
|
NM_005592.4(MUSK):c.1586+8T>C
|
|
|
|
NM_005592.4(MUSK):c.1587-14T>C
|
|
|
|
NM_005592.4(MUSK):c.1587-16C>T
|
|
|
|
NM_005592.4(MUSK):c.1587-5T>G
|
|
|
|
NM_005592.4(MUSK):c.1587-8G>C
|
rs980952719
|
|
|
NM_005592.4(MUSK):c.1599A>G (p.Ala533=)
|
|
|
|
NM_005592.4(MUSK):c.1605C>A (p.Thr535=)
|
|
|
|
NM_005592.4(MUSK):c.1605C>T (p.Thr535=)
|
rs760645831
|
|
|
NM_005592.4(MUSK):c.1611C>T (p.Thr537=)
|
|
|
|
NM_005592.4(MUSK):c.1615C>T (p.Leu539=)
|
|
|
|
NM_005592.4(MUSK):c.1623T>C (p.Ser541=)
|
|
|
|
NM_005592.4(MUSK):c.162C>T (p.Tyr54=)
|
|
|
|
NM_005592.4(MUSK):c.1638T>C (p.Asp546=)
|
|
|
|
NM_005592.4(MUSK):c.165C>T (p.Pro55=)
|
rs766600402
|
|
|
NM_005592.4(MUSK):c.1689C>T (p.Pro563=)
|
rs376052538
|
|
|
NM_005592.4(MUSK):c.1693T>C (p.Leu565=)
|
rs200787064
|
|
|
NM_005592.4(MUSK):c.1698C>G (p.Leu566=)
|
|
|
|
NM_005592.4(MUSK):c.1704G>T (p.Leu568=)
|
rs2077843780
|
|
|
NM_005592.4(MUSK):c.1707G>A (p.Glu569=)
|
|
|
|
NM_005592.4(MUSK):c.1722C>T (p.Asn574=)
|
|
|
|
NM_005592.4(MUSK):c.1734G>A (p.Val578=)
|
|
|
|
NM_005592.4(MUSK):c.1743C>T (p.Ile581=)
|
|
|
|
NM_005592.4(MUSK):c.1749G>A (p.Glu583=)
|
|
|
|
NM_005592.4(MUSK):c.174G>A (p.Glu58=)
|
|
|
|
NM_005592.4(MUSK):c.1778+18A>G
|
|
|
|
NM_005592.4(MUSK):c.1778+19A>C
|
|
|
|
NM_005592.4(MUSK):c.1778+25dup
|
rs200937545
|
|
|
NM_005592.4(MUSK):c.1778+7T>C
|
rs1021982098
|
|
|
NM_005592.4(MUSK):c.1779-16T>C
|
|
|
|
NM_005592.4(MUSK):c.1779-20T>C
|
|
|
|
NM_005592.4(MUSK):c.1788C>T (p.Gly596=)
|
|
|
|
NM_005592.4(MUSK):c.1789T>C (p.Leu597=)
|
|
|
|
NM_005592.4(MUSK):c.1818G>A (p.Val606=)
|
rs2132034695
|
|
|
NM_005592.4(MUSK):c.1833C>A (p.Leu611=)
|
|
|
|
NM_005592.4(MUSK):c.1848G>A (p.Ser616=)
|
|
|
|
NM_005592.4(MUSK):c.1927+12C>A
|
|
|
|
NM_005592.4(MUSK):c.1927+17G>C
|
|
|
|
NM_005592.4(MUSK):c.1927+19G>A
|
|
|
|
NM_005592.4(MUSK):c.1927+8A>C
|
|
|
|
NM_005592.4(MUSK):c.1928-14T>C
|
|
|
|
NM_005592.4(MUSK):c.1928-14T>G
|
|
|
|
NM_005592.4(MUSK):c.1928-20G>T
|
|
|
|
NM_005592.4(MUSK):c.1928-4C>T
|
|
|
|
NM_005592.4(MUSK):c.1928-8G>C
|
|
|
|
NM_005592.4(MUSK):c.1965T>C (p.Phe655=)
|
|
|
|
NM_005592.4(MUSK):c.1980T>C (p.Tyr660=)
|
|
|
|
NM_005592.4(MUSK):c.2007C>T (p.Ser669=)
|
|
|
|
NM_005592.4(MUSK):c.2013C>G (p.Ser671=)
|
rs1564300316
|
|
|
NM_005592.4(MUSK):c.2013C>T (p.Ser671=)
|
rs1564300316
|
|
|
NM_005592.4(MUSK):c.2022C>T (p.Thr674=)
|
rs772683882
|
|
|
NM_005592.4(MUSK):c.2031C>T (p.Ser677=)
|
|
|
|
NM_005592.4(MUSK):c.2058G>A (p.Arg686=)
|
rs2132066129
|
|
|
NM_005592.4(MUSK):c.206+12A>T
|
|
|
|
NM_005592.4(MUSK):c.206+19_206+23del
|
|
|
|
NM_005592.4(MUSK):c.206+20A>T
|
|
|
|
NM_005592.4(MUSK):c.207-11G>A
|
|
|
|
NM_005592.4(MUSK):c.207-11G>C
|
|
|
|
NM_005592.4(MUSK):c.207-16T>C
|
|
|
|
NM_005592.4(MUSK):c.2079G>C (p.Gly693=)
|
|
|
|
NM_005592.4(MUSK):c.2082C>G (p.Pro694=)
|
|
|
|
NM_005592.4(MUSK):c.2082C>T (p.Pro694=)
|
rs201616041
|
|
|
NM_005592.4(MUSK):c.2088C>A (p.Pro696=)
|
rs751434801
|
|
|
NM_005592.4(MUSK):c.2103G>A (p.Glu701=)
|
|
|
|
NM_005592.4(MUSK):c.210C>A (p.Leu70=)
|
|
|
|
NM_005592.4(MUSK):c.2112C>T (p.Cys704=)
|
|
|
|
NM_005592.4(MUSK):c.2136C>T (p.Gly712=)
|
|
|
|
NM_005592.4(MUSK):c.2196G>A (p.Leu732=)
|
|
|
|
NM_005592.4(MUSK):c.2208C>T (p.Asn736=)
|
|
|
|
NM_005592.4(MUSK):c.2226C>T (p.Ala742=)
|
|
|
|
NM_005592.4(MUSK):c.222G>C (p.Arg74=)
|
|
|
|
NM_005592.4(MUSK):c.2256A>T (p.Ser752=)
|
|
|
|
NM_005592.4(MUSK):c.2274T>G (p.Ala758=)
|
|
|
|
NM_005592.4(MUSK):c.2277T>C (p.Asn759=)
|
rs2132067450
|
|
|
NM_005592.4(MUSK):c.2289T>A (p.Ala763=)
|
|
|
|
NM_005592.4(MUSK):c.228C>T (p.Ser76=)
|
rs768514590
|
|
|
NM_005592.4(MUSK):c.2292C>A (p.Ile764=)
|
|
|
|
NM_005592.4(MUSK):c.2292C>T (p.Ile764=)
|
rs560916681
|
|
|
NM_005592.4(MUSK):c.232C>A (p.Arg78=)
|
rs747987063
|
|
|
NM_005592.4(MUSK):c.234G>A (p.Arg78=)
|
|
|
|
NM_005592.4(MUSK):c.2355G>T (p.Val785=)
|
|
|
|
NM_005592.4(MUSK):c.2367C>T (p.Gly789=)
|
|
|
|
NM_005592.4(MUSK):c.2382G>A (p.Glu794=)
|
|
|
|
NM_005592.4(MUSK):c.2394T>C (p.Tyr798=)
|
|
|
|
NM_005592.4(MUSK):c.2398C>T (p.Leu800=)
|
rs1303813392
|
|
|
NM_005592.4(MUSK):c.240T>C (p.Asn80=)
|
|
|
|
NM_005592.4(MUSK):c.2443G>T (p.Val815Leu)
|
rs551520537
|
|
|
NM_005592.4(MUSK):c.2451T>C (p.Asp817=)
|
|
|
|
NM_005592.4(MUSK):c.2457C>T (p.Asn819=)
|
|
|
|
NM_005592.4(MUSK):c.2463C>T (p.Leu821=)
|
|
|
|
NM_005592.4(MUSK):c.2481C>T (p.Cys827=)
|
|
|
|
NM_005592.4(MUSK):c.2493G>A (p.Leu831=)
|
|
|
|
NM_005592.4(MUSK):c.2496C>T (p.Tyr832=)
|
|
|
|
NM_005592.4(MUSK):c.2511A>G (p.Leu837=)
|
rs1447190013
|
|
|
NM_005592.4(MUSK):c.252C>G (p.Leu84=)
|
|
|
|
NM_005592.4(MUSK):c.255C>T (p.Thr85=)
|
|
|
|
NM_005592.4(MUSK):c.276T>C (p.Ser92=)
|
|
|
|
NM_005592.4(MUSK):c.282T>C (p.Asp94=)
|
|
|
|
NM_005592.4(MUSK):c.300G>C (p.Thr100=)
|
rs180928221
|
|
|
NM_005592.4(MUSK):c.309T>C (p.Asn103=)
|
|
|
|
NM_005592.4(MUSK):c.30A>G (p.Val10=)
|
|
|
|
NM_005592.4(MUSK):c.315G>C (p.Val105=)
|
|
|
|
NM_005592.4(MUSK):c.33T>C (p.His11=)
|
|
|
|
NM_005592.4(MUSK):c.342C>A (p.Ala114=)
|
|
|
|
NM_005592.4(MUSK):c.351G>T (p.Val117=)
|
|
|
|
NM_005592.4(MUSK):c.358+17T>C
|
|
|
|
NM_005592.4(MUSK):c.358+18T>C
|
|
|
|
NM_005592.4(MUSK):c.358+19C>A
|
|
|
|
NM_005592.4(MUSK):c.358+20G>C
|
|
|
|
NM_005592.4(MUSK):c.358+9G>A
|
|
|
|
NM_005592.4(MUSK):c.359-16T>G
|
|
|
|
NM_005592.4(MUSK):c.359-7T>A
|
|
|
|
NM_005592.4(MUSK):c.360A>G (p.Lys120=)
|
|
|
|
NM_005592.4(MUSK):c.375T>C (p.Arg125=)
|
rs2131713591
|
|
|
NM_005592.4(MUSK):c.417C>G (p.Val139=)
|
|
|
|
NM_005592.4(MUSK):c.444C>T (p.Pro148=)
|
|
|
|
NM_005592.4(MUSK):c.471A>G (p.Gly157=)
|
|
|
|
NM_005592.4(MUSK):c.484A>C (p.Arg162=)
|
|
|
|
NM_005592.4(MUSK):c.486+16G>A
|
|
|
|
NM_005592.4(MUSK):c.487-17G>A
|
|
|
|
NM_005592.4(MUSK):c.487-18C>T
|
|
|
|
NM_005592.4(MUSK):c.487-9C>T
|
|
|
|
NM_005592.4(MUSK):c.496C>A (p.Arg166=)
|
|
|
|
NM_005592.4(MUSK):c.513A>G (p.Glu171=)
|
|
|
|
NM_005592.4(MUSK):c.573G>A (p.Val191=)
|
|
|
|
NM_005592.4(MUSK):c.588C>T (p.Leu196=)
|
|
|
|
NM_005592.4(MUSK):c.597A>G (p.Ala199=)
|
|
|
|
NM_005592.4(MUSK):c.600T>C (p.Tyr200=)
|
|
|
|
NM_005592.4(MUSK):c.609G>A (p.Val203=)
|
rs762882154
|
|
|
NM_005592.4(MUSK):c.628+11G>A
|
|
|
|
NM_005592.4(MUSK):c.629-10T>C
|
rs753538572
|
|
|
NM_005592.4(MUSK):c.629-16del
|
|
|
|
NM_005592.4(MUSK):c.629-18C>T
|
|
|
|
NM_005592.4(MUSK):c.629-6T>C
|
|
|
|
NM_005592.4(MUSK):c.629-7C>T
|
|
|
|
NM_005592.4(MUSK):c.63T>C (p.Thr21=)
|
|
|
|
NM_005592.4(MUSK):c.646C>A (p.Arg216=)
|
|
|
|
NM_005592.4(MUSK):c.648G>C (p.Arg216=)
|
|
|
|
NM_005592.4(MUSK):c.675T>C (p.Phe225=)
|
|
|
|
NM_005592.4(MUSK):c.699T>C (p.Cys233=)
|
|
|
|
NM_005592.4(MUSK):c.708A>G (p.Thr236=)
|
|
|
|
NM_005592.4(MUSK):c.726C>A (p.Thr242=)
|
|
|
|
NM_005592.4(MUSK):c.738T>A (p.Ile246=)
|
|
|
|
NM_005592.4(MUSK):c.753+11T>C
|
|
|
|
NM_005592.4(MUSK):c.753+15T>C
|
|
|
|
NM_005592.4(MUSK):c.753+20G>A
|
|
|
|
NM_005592.4(MUSK):c.753+8T>C
|
|
|
|
NM_005592.4(MUSK):c.754-4T>C
|
|
|
|
NM_005592.4(MUSK):c.754-5G>C
|
rs991886956
|
|
|
NM_005592.4(MUSK):c.754-6T>G
|
|
|
|
NM_005592.4(MUSK):c.754-9C>T
|
|
|
|
NM_005592.4(MUSK):c.759T>C (p.Ser253=)
|
|
|
|
NM_005592.4(MUSK):c.765G>A (p.Gly255=)
|
|
|
|
NM_005592.4(MUSK):c.768C>T (p.Ser256=)
|
|
|
|
NM_005592.4(MUSK):c.780T>C (p.Ser260=)
|
rs886063353
|
|
|
NM_005592.4(MUSK):c.79+14A>G
|
|
|
|
NM_005592.4(MUSK):c.79+15T>C
|
|
|
|
NM_005592.4(MUSK):c.79+16C>T
|
|
|
|
NM_005592.4(MUSK):c.79+17G>A
|
|
|
|
NM_005592.4(MUSK):c.79+20T>C
|
|
|
|
NM_005592.4(MUSK):c.79+7T>C
|
|
|
|
NM_005592.4(MUSK):c.790C>A (p.Arg264=)
|
|
|
|
NM_005592.4(MUSK):c.795G>A (p.Val265=)
|
|
|
|
NM_005592.4(MUSK):c.80-15C>A
|
|
|
|
NM_005592.4(MUSK):c.80-19A>T
|
|
|
|
NM_005592.4(MUSK):c.80-7C>A
|
|
|
|
NM_005592.4(MUSK):c.80-7_80-3del
|
|
|
|
NM_005592.4(MUSK):c.80-9T>C
|
|
|
|
NM_005592.4(MUSK):c.804A>C (p.Ser268=)
|
|
|
|
NM_005592.4(MUSK):c.807A>G (p.Arg269=)
|
|
|
|
NM_005592.4(MUSK):c.831A>G (p.Pro277=)
|
|
|
|
NM_005592.4(MUSK):c.843A>C (p.Thr281=)
|
|
|
|
NM_005592.4(MUSK):c.855C>G (p.Thr285=)
|
|
|
|
NM_005592.4(MUSK):c.858T>C (p.Asn286=)
|
|
|
|
NM_005592.4(MUSK):c.861G>A (p.Lys287=)
|
|
|
|
NM_005592.4(MUSK):c.864T>C (p.His288=)
|
|
|
|
NM_005592.4(MUSK):c.879T>C (p.Ser293=)
|
|
|
|
NM_005592.4(MUSK):c.882T>A (p.Thr294=)
|
|
|
|
NM_005592.4(MUSK):c.900C>T (p.Thr300=)
|
|
|
|
NM_005592.4(MUSK):c.90C>T (p.Ile30=)
|
|
|
|
NM_005592.4(MUSK):c.913+10C>T
|
|
|
|
NM_005592.4(MUSK):c.913+11C>T
|
|
|
|
NM_005592.4(MUSK):c.913+13T>C
|
|
|
|
NM_005592.4(MUSK):c.913+9C>T
|
|
|
|
NM_005592.4(MUSK):c.914-10C>A
|
|
|
|
NM_005592.4(MUSK):c.914-5A>G
|
|
|
|
NM_005592.4(MUSK):c.920+10T>C
|
rs781462535
|
|
|
NM_005592.4(MUSK):c.920+11G>A
|
|
|
|
NM_005592.4(MUSK):c.920+11_920+12del
|
|
|
|
NM_005592.4(MUSK):c.920+20del
|
|
|
|
NM_005592.4(MUSK):c.920+9C>T
|
rs2131931808
|
|
|
NM_005592.4(MUSK):c.921-18_921-16del
|
|
|
|
NM_005592.4(MUSK):c.921-7C>T
|
rs2131955302
|
|
|
NM_005592.4(MUSK):c.954C>A (p.Ala318=)
|
rs968145791
|
|
|
NM_005592.4(MUSK):c.954C>G (p.Ala318=)
|
rs968145791
|
|
|
NM_005592.4(MUSK):c.990A>G (p.Ala330=)
|
rs1588014706
|
|
|
NM_006147.4(IRF6):c.1059C>T (p.Ser353=)
|
|
|
|
NM_006147.4(IRF6):c.1061-7T>C
|
|
|
|
NM_006147.4(IRF6):c.1239C>A (p.Ser413=)
|
|
|
|
NM_006147.4(IRF6):c.1259G>A (p.Arg420His)
|
|
|
|
NM_006147.4(IRF6):c.1275C>T (p.Thr425=)
|
|
|
|
NM_006147.4(IRF6):c.1315C>T (p.Leu439=)
|
rs1286939391
|
|
|
NM_006147.4(IRF6):c.1398C>T (p.Pro466=)
|
|
|
|
NM_006147.4(IRF6):c.294T>C (p.Asp98=)
|
|
|
|
NM_006147.4(IRF6):c.508+15T>G
|
|
|
|
NM_006147.4(IRF6):c.522G>A (p.Ala174=)
|
|
|
|
NM_006147.4(IRF6):c.777G>A (p.Met259Ile)
|
|
|
|
NM_006265.3(RAD21):c.1162-20_1162-18del
|
|
|
|
NM_006265.3(RAD21):c.12A>C (p.Ala4=)
|
|
|
|
NM_006265.3(RAD21):c.1317T>C (p.Val439=)
|
|
|
|
NM_006265.3(RAD21):c.1322-14A>G
|
|
|
|
NM_006265.3(RAD21):c.1322-5T>G
|
|
|
|
NM_006265.3(RAD21):c.1322-6T>C
|
|
|
|
NM_006265.3(RAD21):c.1329C>G (p.Pro443=)
|
rs765533095
|
|
|
NM_006265.3(RAD21):c.1353C>T (p.Leu451=)
|
|
|
|
NM_006265.3(RAD21):c.1425A>T (p.Gly475=)
|
|
|
|
NM_006265.3(RAD21):c.1470+13A>G
|
|
|
|
NM_006265.3(RAD21):c.1470+20C>T
|
|
|
|
NM_006265.3(RAD21):c.1471-13G>A
|
|
|
|
NM_006265.3(RAD21):c.1500A>G (p.Pro500=)
|
|
|
|
NM_006265.3(RAD21):c.1560_1583dup (p.Glu528_Lys529insLeuLeuProGluLysGluLysGlu)
|
|
|
|
NM_006265.3(RAD21):c.165A>G (p.Thr55=)
|
|
|
|
NM_006265.3(RAD21):c.1705-15T>C
|
|
|
|
NM_006265.3(RAD21):c.1719A>G (p.Lys573=)
|
|
|
|
NM_006265.3(RAD21):c.1824T>G (p.Ala608=)
|
|
|
|
NM_006265.3(RAD21):c.1845A>G (p.Glu615=)
|
|
|
|
NM_006265.3(RAD21):c.1863C>T (p.Ile621=)
|
|
|
|
NM_006265.3(RAD21):c.228A>T (p.Ala76=)
|
rs2130479411
|
|
|
NM_006265.3(RAD21):c.351T>C (p.Phe117=)
|
|
|
|
NM_006265.3(RAD21):c.374+13T>C
|
|
|
|
NM_006265.3(RAD21):c.375-12C>T
|
|
|
|
NM_006265.3(RAD21):c.375-9_375-7del
|
|
|
|
NM_006265.3(RAD21):c.42G>C (p.Leu14=)
|
|
|
|
NM_006265.3(RAD21):c.481+8A>C
|
|
|
|
NM_006265.3(RAD21):c.482-15_482-11del
|
rs750504354
|
|
|
NM_006265.3(RAD21):c.482-19C>T
|
|
|
|
NM_006265.3(RAD21):c.482-3del
|
rs1217367738
|
|
|
NM_006265.3(RAD21):c.564T>G (p.Thr188=)
|
|
|
|
NM_006265.3(RAD21):c.576A>G (p.Leu192=)
|
|
|
|
NM_006265.3(RAD21):c.689-15C>T
|
|
|
|
NM_006265.3(RAD21):c.689-16dup
|
rs773593714
|
|
|
NM_006265.3(RAD21):c.689-17del
|
|
|
|
NM_006265.3(RAD21):c.689-4del
|
|
|
|
NM_006265.3(RAD21):c.699T>C (p.Leu233=)
|
|
|
|
NM_006265.3(RAD21):c.714T>C (p.Asp238=)
|
|
|
|
NM_006265.3(RAD21):c.741C>A (p.Ala247=)
|
|
|
|
NM_006265.3(RAD21):c.744C>T (p.Leu248=)
|
|
|
|
NM_006265.3(RAD21):c.815-17_815-5del
|
rs35902828
|
|
|
NM_006265.3(RAD21):c.815-6T>A
|
|
|
|
NM_006265.3(RAD21):c.81A>C (p.Leu27=)
|
|
|
|
NM_006265.3(RAD21):c.937+10T>C
|
|
|
|
NM_006265.3(RAD21):c.937+7A>G
|
|
|
|
NM_006265.3(RAD21):c.948A>G (p.Thr316=)
|
|
|
|
NM_006265.3(RAD21):c.9C>T (p.Tyr3=)
|
|
|
|
NM_006306.4(SMC1A):c.1023G>A (p.Leu341=)
|
rs782132247
|
|
|
NM_006306.4(SMC1A):c.1050T>C (p.Phe350=)
|
rs2146604747
|
|
|
NM_006306.4(SMC1A):c.1056A>G (p.Glu352=)
|
|
|
|
NM_006306.4(SMC1A):c.1059G>A (p.Arg353=)
|
|
|
|
NM_006306.4(SMC1A):c.1080T>C (p.Ser360=)
|
|
|
|
NM_006306.4(SMC1A):c.109+19C>A
|
rs933977903
|
|
|
NM_006306.4(SMC1A):c.109+19C>T
|
|
|
|
NM_006306.4(SMC1A):c.1099T>C (p.Leu367=)
|
|
|
|
NM_006306.4(SMC1A):c.110-12C>T
|
|
|
|
NM_006306.4(SMC1A):c.110-16G>A
|
rs929835697
|
|
|
NM_006306.4(SMC1A):c.110-17C>T
|
|
|
|
NM_006306.4(SMC1A):c.110-19C>T
|
|
|
|
NM_006306.4(SMC1A):c.1113+16G>C
|
|
|
|
NM_006306.4(SMC1A):c.1114-15C>T
|
rs1489497654
|
|
|
NM_006306.4(SMC1A):c.1114-21_1114-19del
|
|
|
|
NM_006306.4(SMC1A):c.1125C>T (p.Tyr375=)
|
|
|
|
NM_006306.4(SMC1A):c.1158A>G (p.Ala386=)
|
rs2075714290
|
|
|
NM_006306.4(SMC1A):c.1191T>C (p.Asn397=)
|
|
|
|
NM_006306.4(SMC1A):c.1212G>A (p.Gln404=)
|
rs2146604588
|
|
|
NM_006306.4(SMC1A):c.1239G>A (p.Lys413=)
|
|
|
|
NM_006306.4(SMC1A):c.1254+17A>G
|
rs2146604554
|
|
|
NM_006306.4(SMC1A):c.1254+8A>G
|
rs2075713975
|
|
|
NM_006306.4(SMC1A):c.1255-19T>G
|
|
|
|
NM_006306.4(SMC1A):c.12G>C (p.Leu4=)
|
rs2146614125
|
|
|
NM_006306.4(SMC1A):c.1337+15A>C
|
|
|
|
NM_006306.4(SMC1A):c.1337+17C>T
|
rs2075702882
|
|
|
NM_006306.4(SMC1A):c.1338-12C>G
|
|
|
|
NM_006306.4(SMC1A):c.1338-12del
|
|
|
|
NM_006306.4(SMC1A):c.1338-4G>A
|
rs2146602390
|
|
|
NM_006306.4(SMC1A):c.1402C>A (p.Arg468=)
|
|
|
|
NM_006306.4(SMC1A):c.1404G>A (p.Arg468=)
|
|
|
|
NM_006306.4(SMC1A):c.1408A>G (p.Ile470Val)
|
|
|
|
NM_006306.4(SMC1A):c.1419C>T (p.Ile473=)
|
|
|
|
NM_006306.4(SMC1A):c.1425G>A (p.Lys475=)
|
rs2075702025
|
|
|
NM_006306.4(SMC1A):c.1428G>A (p.Glu476=)
|
rs2146602309
|
|
|
NM_006306.4(SMC1A):c.1467C>T (p.Ile489=)
|
|
|
|
NM_006306.4(SMC1A):c.1488C>A (p.Arg496=)
|
|
|
|
NM_006306.4(SMC1A):c.1497A>C (p.Arg499=)
|
rs2146602244
|
|
|
NM_006306.4(SMC1A):c.1536T>C (p.Pro512=)
|
rs200645744
|
|
|
NM_006306.4(SMC1A):c.1545+18A>G
|
|
|
|
NM_006306.4(SMC1A):c.1546-13C>G
|
|
|
|
NM_006306.4(SMC1A):c.1546-17C>T
|
|
|
|
NM_006306.4(SMC1A):c.1647G>C (p.Ser549=)
|
rs782582676
|
|
|
NM_006306.4(SMC1A):c.1653G>A (p.Lys551=)
|
|
|
|
NM_006306.4(SMC1A):c.1732-19A>G
|
rs2146599868
|
|
|
NM_006306.4(SMC1A):c.1732-6C>T
|
|
|
|
NM_006306.4(SMC1A):c.1732-7C>A
|
|
|
|
NM_006306.4(SMC1A):c.1782G>A (p.Val594=)
|
|
|
|
NM_006306.4(SMC1A):c.184C>A (p.Arg62=)
|
|
|
|
NM_006306.4(SMC1A):c.1899C>T (p.His633=)
|
|
|
|
NM_006306.4(SMC1A):c.1911+11C>T
|
|
|
|
NM_006306.4(SMC1A):c.1911+18C>T
|
|
|
|
NM_006306.4(SMC1A):c.1912-10C>G
|
|
|
|
NM_006306.4(SMC1A):c.1912-4G>T
|
rs2075687357
|
|
|
NM_006306.4(SMC1A):c.1920A>T (p.Ala640=)
|
|
|
|
NM_006306.4(SMC1A):c.192G>C (p.Leu64=)
|
rs2146606701
|
|
|
NM_006306.4(SMC1A):c.1935A>C (p.Leu645=)
|
|
|
|
NM_006306.4(SMC1A):c.1935A>G (p.Leu645=)
|
|
|
|
NM_006306.4(SMC1A):c.1962T>G (p.Gly654=)
|
|
|
|
NM_006306.4(SMC1A):c.1977G>A (p.Leu659=)
|
rs2146599598
|
|
|
NM_006306.4(SMC1A):c.2040C>T (p.Arg680=)
|
rs782816467
|
|
|
NM_006306.4(SMC1A):c.2088A>G (p.Ala696=)
|
|
|
|
NM_006306.4(SMC1A):c.2157A>G (p.Leu719=)
|
rs1255531738
|
|
|
NM_006306.4(SMC1A):c.2160A>G (p.Glu720=)
|
rs2146599315
|
|
|
NM_006306.4(SMC1A):c.2184C>A (p.Ala728=)
|
rs968499171
|
|
|
NM_006306.4(SMC1A):c.2226C>T (p.Ala742=)
|
|
|
|
NM_006306.4(SMC1A):c.2229C>T (p.Asn743=)
|
|
|
|
NM_006306.4(SMC1A):c.2278A>C (p.Arg760=)
|
|
|
|
NM_006306.4(SMC1A):c.2314-12T>C
|
|
|
|
NM_006306.4(SMC1A):c.2314-5C>T
|
|
|
|
NM_006306.4(SMC1A):c.2328G>A (p.Val776=)
|
rs2146598325
|
|
|
NM_006306.4(SMC1A):c.2346G>C (p.Arg782=)
|
|
|
|
NM_006306.4(SMC1A):c.2382A>G (p.Glu794=)
|
rs2146598260
|
|
|
NM_006306.4(SMC1A):c.2421-14A>C
|
|
|
|
NM_006306.4(SMC1A):c.2421-16C>G
|
|
|
|
NM_006306.4(SMC1A):c.2421-16C>T
|
|
|
|
NM_006306.4(SMC1A):c.243C>T (p.Ser81=)
|
|
|
|
NM_006306.4(SMC1A):c.2454C>T (p.Gly818=)
|
|
|
|
NM_006306.4(SMC1A):c.2487G>A (p.Lys829=)
|
|
|
|
NM_006306.4(SMC1A):c.2523A>G (p.Thr841=)
|
|
|
|
NM_006306.4(SMC1A):c.2556C>A (p.Leu852=)
|
rs1602407405
|
|
|
NM_006306.4(SMC1A):c.2562+13A>G
|
|
|
|
NM_006306.4(SMC1A):c.2563-13C>T
|
|
|
|
NM_006306.4(SMC1A):c.2568A>G (p.Glu856=)
|
rs2146593670
|
|
|
NM_006306.4(SMC1A):c.2583G>A (p.Lys861=)
|
rs1602405816
|
|
|
NM_006306.4(SMC1A):c.2592T>C (p.Asp864=)
|
|
|
|
NM_006306.4(SMC1A):c.2640G>A (p.Lys880=)
|
rs2075651961
|
|
|
NM_006306.4(SMC1A):c.2700C>G (p.Gly900=)
|
|
|
|
NM_006306.4(SMC1A):c.2700C>T (p.Gly900=)
|
rs186510389
|
|
|
NM_006306.4(SMC1A):c.2708+12C>G
|
|
|
|
NM_006306.4(SMC1A):c.2708+13A>G
|
|
|
|
NM_006306.4(SMC1A):c.2708+16C>T
|
|
|
|
NM_006306.4(SMC1A):c.2709-16C>G
|
|
|
|
NM_006306.4(SMC1A):c.2709-4T>A
|
rs1602405648
|
|
|
NM_006306.4(SMC1A):c.2739A>G (p.Thr913=)
|
rs2146593498
|
|
|
NM_006306.4(SMC1A):c.2742C>T (p.Ala914=)
|
|
|
|
NM_006306.4(SMC1A):c.2785T>C (p.Leu929=)
|
|
|
|
NM_006306.4(SMC1A):c.2862+15T>C
|
|
|
|
NM_006306.4(SMC1A):c.2862+3G>C
|
rs2075650901
|
|
|
NM_006306.4(SMC1A):c.2863-13G>A
|
|
|
|
NM_006306.4(SMC1A):c.2863-17C>G
|
|
|
|
NM_006306.4(SMC1A):c.2863-19C>T
|
|
|
|
NM_006306.4(SMC1A):c.2863-6T>C
|
|
|
|
NM_006306.4(SMC1A):c.2863-9C>G
|
rs371102918
|
|
|
NM_006306.4(SMC1A):c.2895T>C (p.Gly965=)
|
rs2075645097
|
|
|
NM_006306.4(SMC1A):c.2919T>C (p.Tyr973=)
|
|
|
|
NM_006306.4(SMC1A):c.2922A>G (p.Ala974=)
|
|
|
|
NM_006306.4(SMC1A):c.2928G>A (p.Glu976=)
|
|
|
|
NM_006306.4(SMC1A):c.2943T>C (p.Ile981=)
|
|
|
|
NM_006306.4(SMC1A):c.2973+12C>T
|
|
|
|
NM_006306.4(SMC1A):c.2973+16A>G
|
|
|
|
NM_006306.4(SMC1A):c.2973+16A>T
|
|
|
|
NM_006306.4(SMC1A):c.2973+18G>C
|
|
|
|
NM_006306.4(SMC1A):c.2973+20G>A
|
|
|
|
NM_006306.4(SMC1A):c.2974-20G>C
|
|
|
|
NM_006306.4(SMC1A):c.2979C>T (p.Ala993=)
|
rs2146583246
|
|
|
NM_006306.4(SMC1A):c.298+9G>A
|
rs1556891082
|
|
|
NM_006306.4(SMC1A):c.299-12A>G
|
|
|
|
NM_006306.4(SMC1A):c.299-14G>A
|
rs2146606574
|
|
|
NM_006306.4(SMC1A):c.299-19C>T
|
|
|
|
NM_006306.4(SMC1A):c.3024G>A (p.Gln1008=)
|
rs2146583203
|
|
|
NM_006306.4(SMC1A):c.3126A>G (p.Ser1042=)
|
|
|
|
NM_006306.4(SMC1A):c.3130+11C>G
|
|
|
|
NM_006306.4(SMC1A):c.3131-15C>T
|
|
|
|
NM_006306.4(SMC1A):c.3131-4del
|
|
|
|
NM_006306.4(SMC1A):c.3131-5G>C
|
|
|
|
NM_006306.4(SMC1A):c.3131-7C>T
|
|
|
|
NM_006306.4(SMC1A):c.3174A>G (p.Ala1058=)
|
rs1432130956
|
|
|
NM_006306.4(SMC1A):c.3198C>T (p.Arg1066=)
|
|
|
|
NM_006306.4(SMC1A):c.3219T>C (p.Cys1073=)
|
|
|
|
NM_006306.4(SMC1A):c.3246T>C (p.Asp1082=)
|
|
|
|
NM_006306.4(SMC1A):c.3249G>A (p.Glu1083=)
|
|
|
|
NM_006306.4(SMC1A):c.3306C>T (p.Asn1102=)
|
rs797045994
|
|
|
NM_006306.4(SMC1A):c.336C>G (p.Val112=)
|
|
|
|
NM_006306.4(SMC1A):c.3437+12C>A
|
rs2146582406
|
|
|
NM_006306.4(SMC1A):c.3438-12G>T
|
rs2146581650
|
|
|
NM_006306.4(SMC1A):c.3438-8C>T
|
|
|
|
NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=)
|
rs142611198
|
|
|
NM_006306.4(SMC1A):c.3508-13G>T
|
|
|
|
NM_006306.4(SMC1A):c.3508-18T>C
|
|
|
|
NM_006306.4(SMC1A):c.3508-20C>T
|
|
|
|
NM_006306.4(SMC1A):c.3508-6C>T
|
|
|
|
NM_006306.4(SMC1A):c.351C>T (p.Tyr117=)
|
|
|
|
NM_006306.4(SMC1A):c.3534G>C (p.Ser1178=)
|
rs782763816
|
|
|
NM_006306.4(SMC1A):c.3549G>A (p.Gln1183=)
|
rs2146581326
|
|
|
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=)
|
rs2146581314
|
|
|
NM_006306.4(SMC1A):c.357G>A (p.Glu119=)
|
|
|
|
NM_006306.4(SMC1A):c.3591C>G (p.Ala1197=)
|
rs146216425
|
|
|
NM_006306.4(SMC1A):c.3651C>T (p.Thr1217=)
|
rs2146581010
|
|
|
NM_006306.4(SMC1A):c.3660C>T (p.Leu1220=)
|
rs1348100944
|
|
|
NM_006306.4(SMC1A):c.3663C>G (p.Thr1221=)
|
rs28997583
|
|
|
NM_006306.4(SMC1A):c.3663C>T (p.Thr1221=)
|
rs28997583
|
|
|
NM_006306.4(SMC1A):c.3687C>T (p.Asn1229=)
|
|
|
|
NM_006306.4(SMC1A):c.378T>A (p.Ile126=)
|
|
|
|
NM_006306.4(SMC1A):c.399C>T (p.Phe133=)
|
rs1463042305
|
|
|
NM_006306.4(SMC1A):c.412-12G>T
|
|
|
|
NM_006306.4(SMC1A):c.412-7T>C
|
|
|
|
NM_006306.4(SMC1A):c.412-9C>T
|
|
|
|
NM_006306.4(SMC1A):c.441C>T (p.Asn147=)
|
|
|
|
NM_006306.4(SMC1A):c.444C>G (p.Pro148=)
|
|
|
|
NM_006306.4(SMC1A):c.452G>A (p.Arg151Lys)
|
rs2075720794
|
|
|
NM_006306.4(SMC1A):c.462A>G (p.Leu154=)
|
rs2146605662
|
|
|
NM_006306.4(SMC1A):c.474T>C (p.Ile158=)
|
|
|
|
NM_006306.4(SMC1A):c.483T>C (p.Ser161=)
|
rs782286610
|
|
|
NM_006306.4(SMC1A):c.489G>A (p.Glu163=)
|
|
|
|
NM_006306.4(SMC1A):c.528G>A (p.Val176=)
|
rs1359837999
|
|
|
NM_006306.4(SMC1A):c.582T>C (p.Ala194=)
|
|
|
|
NM_006306.4(SMC1A):c.615+14C>T
|
|
|
|
NM_006306.4(SMC1A):c.615+8G>A
|
|
|
|
NM_006306.4(SMC1A):c.616-19C>T
|
|
|
|
NM_006306.4(SMC1A):c.616-4A>G
|
|
|
|
NM_006306.4(SMC1A):c.616-7del
|
rs1312306004
|
|
|
NM_006306.4(SMC1A):c.666G>A (p.Gln222=)
|
rs2146605417
|
|
|
NM_006306.4(SMC1A):c.669G>C (p.Leu223=)
|
rs1556890780
|
|
|
NM_006306.4(SMC1A):c.678T>C (p.Phe226=)
|
rs2146605400
|
|
|
NM_006306.4(SMC1A):c.732A>G (p.Ser244=)
|
rs1193851590
|
|
|
NM_006306.4(SMC1A):c.813C>A (p.Gly271=)
|
|
|
|
NM_006306.4(SMC1A):c.813C>T (p.Gly271=)
|
|
|
|
NM_006306.4(SMC1A):c.81C>T (p.Phe27=)
|
rs2075764568
|
|
|
NM_006306.4(SMC1A):c.855-12C>T
|
|
|
|
NM_006306.4(SMC1A):c.855-14C>T
|
|
|
|
NM_006306.4(SMC1A):c.855-17C>T
|
|
|
|
NM_006306.4(SMC1A):c.867A>G (p.Ser289=)
|
rs2146604827
|
|
|
NM_006306.4(SMC1A):c.951G>A (p.Lys317=)
|
rs2146604793
|
|
|
NM_006306.4(SMC1A):c.972G>A (p.Lys324=)
|
|
|
|
NM_012243.3(SLC35A3):c.120T>A (p.Ser40=)
|
|
|
|
NM_012243.3(SLC35A3):c.123A>G (p.Thr41=)
|
|
|
|
NM_012243.3(SLC35A3):c.126A>C (p.Ala42=)
|
|
|
|
NM_012243.3(SLC35A3):c.12C>T (p.Asn4=)
|
rs1658214469
|
|
|
NM_012243.3(SLC35A3):c.147G>A (p.Leu49=)
|
|
|
|
NM_012243.3(SLC35A3):c.150G>A (p.Lys50=)
|
rs2101133972
|
|
|
NM_012243.3(SLC35A3):c.168A>G (p.Leu56=)
|
|
|
|
NM_012243.3(SLC35A3):c.174C>G (p.Val58=)
|
rs1403560766
|
|
|
NM_012243.3(SLC35A3):c.174C>T (p.Val58=)
|
rs1403560766
|
|
|
NM_012243.3(SLC35A3):c.177C>T (p.Tyr59=)
|
rs1570588627
|
|
|
NM_012243.3(SLC35A3):c.183C>T (p.Asp61=)
|
|
|
|
NM_012243.3(SLC35A3):c.187+10T>C
|
rs2101134310
|
|
|
NM_012243.3(SLC35A3):c.187+18_187+19dup
|
|
|
|
NM_012243.3(SLC35A3):c.187+20G>T
|
|
|
|
NM_012243.3(SLC35A3):c.187+9C>A
|
|
|
|
NM_012243.3(SLC35A3):c.188-12_188-11del
|
|
|
|
NM_012243.3(SLC35A3):c.188-14A>T
|
|
|
|
NM_012243.3(SLC35A3):c.189A>G (p.Lys63=)
|
|
|
|
NM_012243.3(SLC35A3):c.201A>G (p.Arg67=)
|
rs748968538
|
|
|
NM_012243.3(SLC35A3):c.210T>C (p.Asn70=)
|
rs1287781530
|
|
|
NM_012243.3(SLC35A3):c.231T>C (p.Ile77=)
|
|
|
|
NM_012243.3(SLC35A3):c.234T>G (p.Leu78=)
|
|
|
|
NM_012243.3(SLC35A3):c.264T>C (p.Ala88=)
|
rs1570597448
|
|
|
NM_012243.3(SLC35A3):c.267T>A (p.Ile89=)
|
rs2101196455
|
|
|
NM_012243.3(SLC35A3):c.285T>C (p.Thr95=)
|
|
|
|
NM_012243.3(SLC35A3):c.28C>T (p.Leu10=)
|
|
|
|
NM_012243.3(SLC35A3):c.300A>G (p.Leu100=)
|
rs2101196904
|
|
|
NM_012243.3(SLC35A3):c.303G>A (p.Leu101=)
|
rs1265111632
|
|
|
NM_012243.3(SLC35A3):c.313C>T (p.Leu105=)
|
|
|
|
NM_012243.3(SLC35A3):c.327T>C (p.Asp109=)
|
rs2101197308
|
|
|
NM_012243.3(SLC35A3):c.330A>G (p.Ala110=)
|
rs2101197432
|
|
|
NM_012243.3(SLC35A3):c.339T>C (p.Tyr113=)
|
|
|
|
NM_012243.3(SLC35A3):c.342+12A>G
|
|
|
|
NM_012243.3(SLC35A3):c.342+14A>G
|
|
|
|
NM_012243.3(SLC35A3):c.342+18C>A
|
|
|
|
NM_012243.3(SLC35A3):c.342+18_342+19del
|
|
|
|
NM_012243.3(SLC35A3):c.342+22_342+25del
|
|
|
|
NM_012243.3(SLC35A3):c.343-14G>C
|
|
|
|
NM_012243.3(SLC35A3):c.343-15T>C
|
|
|
|
NM_012243.3(SLC35A3):c.343-18T>C
|
|
|
|
NM_012243.3(SLC35A3):c.348G>T (p.Thr116=)
|
rs574333514
|
|
|
NM_012243.3(SLC35A3):c.355T>C (p.Leu119=)
|
rs1297581482
|
|
|
NM_012243.3(SLC35A3):c.384T>G (p.Ser128=)
|
rs2101309506
|
|
|
NM_012243.3(SLC35A3):c.411T>A (p.Gly137=)
|
|
|
|
NM_012243.3(SLC35A3):c.414A>G (p.Val138=)
|
rs988629039
|
|
|
NM_012243.3(SLC35A3):c.429C>T (p.Ser143=)
|
|
|
|
NM_012243.3(SLC35A3):c.42C>A (p.Val14=)
|
|
|
|
NM_012243.3(SLC35A3):c.430C>T (p.Leu144=)
|
|
|
|
NM_012243.3(SLC35A3):c.462A>G (p.Val154=)
|
rs1659292291
|
|
|
NM_012243.3(SLC35A3):c.465+18G>A
|
|
|
|
NM_012243.3(SLC35A3):c.466-12C>T
|
|
|
|
NM_012243.3(SLC35A3):c.466-18A>G
|
|
|
|
NM_012243.3(SLC35A3):c.466-9_466-7del
|
|
|
|
NM_012243.3(SLC35A3):c.471C>A (p.Pro157=)
|
|
|
|
NM_012243.3(SLC35A3):c.471C>T (p.Pro157=)
|
rs1269158450
|
|
|
NM_012243.3(SLC35A3):c.474A>G (p.Ser158=)
|
|
|
|
NM_012243.3(SLC35A3):c.513T>C (p.Ser171=)
|
|
|
|
NM_012243.3(SLC35A3):c.516A>G (p.Gln172=)
|
rs1282648211
|
|
|
NM_012243.3(SLC35A3):c.534A>G (p.Ala178=)
|
|
|
|
NM_012243.3(SLC35A3):c.546A>T (p.Ala182=)
|
|
|
|
NM_012243.3(SLC35A3):c.549T>C (p.Cys183=)
|
rs2101369309
|
|
|
NM_012243.3(SLC35A3):c.561C>T (p.Gly187=)
|
rs112451945
|
|
|
NM_012243.3(SLC35A3):c.570G>A (p.Gly190=)
|
rs1456464744
|
|
|
NM_012243.3(SLC35A3):c.570G>T (p.Gly190=)
|
|
|
|
NM_012243.3(SLC35A3):c.579T>C (p.Phe193=)
|
|
|
|
NM_012243.3(SLC35A3):c.594A>G (p.Lys198=)
|
rs2101370023
|
|
|
NM_012243.3(SLC35A3):c.597A>G (p.Glu199=)
|
|
|
|
NM_012243.3(SLC35A3):c.600A>C (p.Thr200=)
|
|
|
|
NM_012243.3(SLC35A3):c.612G>A (p.Val204=)
|
|
|
|
NM_012243.3(SLC35A3):c.624T>C (p.Asn208=)
|
rs1010621391
|
|
|
NM_012243.3(SLC35A3):c.634+11_634+12dup
|
|
|
|
NM_012243.3(SLC35A3):c.634+12A>G
|
|
|
|
NM_012243.3(SLC35A3):c.634+15T>G
|
|
|
|
NM_012243.3(SLC35A3):c.635-14_635-13del
|
|
|
|
NM_012243.3(SLC35A3):c.635-5_635-3del
|
rs766308423
|
|
|
NM_012243.3(SLC35A3):c.63T>A (p.Val21=)
|
rs141542767
|
|
|
NM_012243.3(SLC35A3):c.645A>T (p.Gly215=)
|
rs2101423658
|
|
|
NM_012243.3(SLC35A3):c.669A>G (p.Val223=)
|
rs2101424040
|
|
|
NM_012243.3(SLC35A3):c.672C>T (p.Tyr224=)
|
rs1660022175
|
|
|
NM_012243.3(SLC35A3):c.687A>G (p.Glu229=)
|
|
|
|
NM_012243.3(SLC35A3):c.693A>G (p.Val231=)
|
rs2101424477
|
|
|
NM_012243.3(SLC35A3):c.69A>T (p.Thr23=)
|
|
|
|
NM_012243.3(SLC35A3):c.702T>C (p.Asn234=)
|
rs2101424655
|
|
|
NM_012243.3(SLC35A3):c.726A>C (p.Arg242=)
|
|
|
|
NM_012243.3(SLC35A3):c.732C>T (p.Thr244=)
|
|
|
|
NM_012243.3(SLC35A3):c.741A>G (p.Val247=)
|
|
|
|
NM_012243.3(SLC35A3):c.753+12A>G
|
|
|
|
NM_012243.3(SLC35A3):c.753+15G>A
|
|
|
|
NM_012243.3(SLC35A3):c.753+16T>C
|
|
|
|
NM_012243.3(SLC35A3):c.753+7C>T
|
|
|
|
NM_012243.3(SLC35A3):c.753+8A>T
|
|
|
|
NM_012243.3(SLC35A3):c.754-18del
|
|
|
|
NM_012243.3(SLC35A3):c.756A>G (p.Ala252=)
|
|
|
|
NM_012243.3(SLC35A3):c.756A>T (p.Ala252=)
|
|
|
|
NM_012243.3(SLC35A3):c.759T>C (p.Leu253=)
|
rs2101455187
|
|
|
NM_012243.3(SLC35A3):c.762A>T (p.Gly254=)
|
rs2101455378
|
|
|
NM_012243.3(SLC35A3):c.771A>C (p.Val257=)
|
|
|
|
NM_012243.3(SLC35A3):c.771A>G (p.Val257=)
|
rs2101455469
|
|
|
NM_012243.3(SLC35A3):c.780T>A (p.Ala260=)
|
rs1287725180
|
|
|
NM_012243.3(SLC35A3):c.792T>C (p.Tyr264=)
|
|
|
|
NM_012243.3(SLC35A3):c.798T>C (p.Asp266=)
|
|
|
|
NM_012243.3(SLC35A3):c.807A>G (p.Leu269=)
|
|
|
|
NM_012243.3(SLC35A3):c.81C>G (p.Ser27=)
|
|
|
|
NM_012243.3(SLC35A3):c.822C>T (p.Thr274=)
|
rs2101456060
|
|
|
NM_012243.3(SLC35A3):c.831G>A (p.Ser277=)
|
rs749734512
|
|
|
NM_012243.3(SLC35A3):c.843A>C (p.Ser281=)
|
|
|
|
NM_012243.3(SLC35A3):c.846A>G (p.Thr282=)
|
|
|
|
NM_012243.3(SLC35A3):c.852C>A (p.Ile284=)
|
|
|
|
NM_012243.3(SLC35A3):c.858T>C (p.Tyr286=)
|
rs1368296616
|
|
|
NM_012243.3(SLC35A3):c.885C>T (p.Thr295=)
|
rs1220907691
|
|
|
NM_012243.3(SLC35A3):c.887+13_887+17del
|
rs552844460
|
|
|
NM_012243.3(SLC35A3):c.887+17T>G
|
|
|
|
NM_012243.3(SLC35A3):c.887+7del
|
rs1553204463
|
|
|
NM_012243.3(SLC35A3):c.887+8G>A
|
rs772703781
|
|
|
NM_012243.3(SLC35A3):c.888-10T>A
|
rs750539187
|
|
|
NM_012243.3(SLC35A3):c.888-13del
|
|
|
|
NM_012243.3(SLC35A3):c.891C>A (p.Val297=)
|
|
|
|
NM_012243.3(SLC35A3):c.894T>C (p.Phe298=)
|
|
|
|
NM_012243.3(SLC35A3):c.900T>A (p.Leu300=)
|
|
|
|
NM_012243.3(SLC35A3):c.906C>T (p.Ala302=)
|
rs2101501181
|
|
|
NM_012243.3(SLC35A3):c.945T>C (p.Asp315=)
|
|
|
|
NM_012243.3(SLC35A3):c.951A>G (p.Lys317=)
|
|
|
|
NM_012243.3(SLC35A3):c.966C>T (p.Pro322=)
|
rs1406942729
|
|
|
NM_012243.3(SLC35A3):c.96A>G (p.Glu32=)
|
|
|
|
NM_012243.3(SLC35A3):c.975A>C (p.Ala325=)
|
|
|
|
NM_013352.4(DSE):c.102C>T (p.Pro34=)
|
|
|
|
NM_013352.4(DSE):c.110A>T (p.Asn37Ile)
|
rs371802983
|
|
|
NM_013352.4(DSE):c.1170A>G (p.Thr390=)
|
|
|
|
NM_013352.4(DSE):c.1197C>T (p.Val399=)
|
|
|
|
NM_013352.4(DSE):c.1284T>C (p.Tyr428=)
|
rs1583235798
|
|
|
NM_013352.4(DSE):c.1293C>A (p.Val431=)
|
|
|
|
NM_013352.4(DSE):c.1323A>G (p.Lys441=)
|
|
|
|
NM_013352.4(DSE):c.1407T>C (p.Thr469=)
|
|
|
|
NM_013352.4(DSE):c.1416G>T (p.Leu472=)
|
|
|
|
NM_013352.4(DSE):c.144C>T (p.Phe48=)
|
|
|
|
NM_013352.4(DSE):c.1608C>T (p.Phe536=)
|
|
|
|
NM_013352.4(DSE):c.1614A>T (p.Arg538=)
|
|
|
|
NM_013352.4(DSE):c.1620A>G (p.Glu540=)
|
|
|
|
NM_013352.4(DSE):c.1635T>C (p.Tyr545=)
|
|
|
|
NM_013352.4(DSE):c.16C>A (p.Arg6=)
|
|
|
|
NM_013352.4(DSE):c.1752G>A (p.Ala584=)
|
|
|
|
NM_013352.4(DSE):c.1752G>C (p.Ala584=)
|
rs561665809
|
|
|
NM_013352.4(DSE):c.1809T>C (p.His603=)
|
|
|
|
NM_013352.4(DSE):c.1897G>A (p.Val633Met)
|
rs550208733
|
|
|
NM_013352.4(DSE):c.1911G>C (p.Arg637=)
|
rs2115096083
|
|
|
NM_013352.4(DSE):c.192C>T (p.His64=)
|
|
|
|
NM_013352.4(DSE):c.1938T>C (p.Tyr646=)
|
|
|
|
NM_013352.4(DSE):c.2016G>A (p.Gln672=)
|
|
|
|
NM_013352.4(DSE):c.201T>A (p.Ile67=)
|
|
|
|
NM_013352.4(DSE):c.2031C>T (p.His677=)
|
|
|
|
NM_013352.4(DSE):c.2133G>A (p.Gln711=)
|
|
|
|
NM_013352.4(DSE):c.2196C>A (p.Val732=)
|
|
|
|
NM_013352.4(DSE):c.21G>C (p.Gly7=)
|
|
|
|
NM_013352.4(DSE):c.2358T>C (p.Thr786=)
|
rs781704477
|
|
|
NM_013352.4(DSE):c.237G>A (p.Leu79=)
|
|
|
|
NM_013352.4(DSE):c.2619G>A (p.Gly873=)
|
|
|
|
NM_013352.4(DSE):c.2622C>T (p.Gly874=)
|
|
|
|
NM_013352.4(DSE):c.2637G>A (p.Arg879=)
|
|
|
|
NM_013352.4(DSE):c.2646G>A (p.Gln882=)
|
rs2115099368
|
|
|
NM_013352.4(DSE):c.264C>G (p.Pro88=)
|
|
|
|
NM_013352.4(DSE):c.27C>A (p.Pro9=)
|
|
|
|
NM_013352.4(DSE):c.2838A>G (p.Leu946=)
|
|
|
|
NM_013352.4(DSE):c.33G>A (p.Val11=)
|
|
|
|
NM_013352.4(DSE):c.357C>T (p.Asn119=)
|
|
|
|
NM_013352.4(DSE):c.447C>T (p.Val149=)
|
|
|
|
NM_013352.4(DSE):c.670+18C>T
|
|
|
|
NM_013352.4(DSE):c.670+20A>G
|
|
|
|
NM_013352.4(DSE):c.681A>G (p.Gln227=)
|
|
|
|
NM_013352.4(DSE):c.69C>T (p.Tyr23=)
|
|
|
|
NM_013352.4(DSE):c.714C>T (p.Thr238=)
|
|
|
|
NM_013352.4(DSE):c.780G>T (p.Ala260=)
|
|
|
|
NM_013352.4(DSE):c.78C>T (p.Asp26=)
|
rs146524076
|
|
|
NM_013352.4(DSE):c.807C>T (p.Leu269=)
|
|
|
|
NM_013352.4(DSE):c.910+10G>A
|
|
|
|
NM_013352.4(DSE):c.910+8G>A
|
|
|
|
NM_013352.4(DSE):c.910+9A>C
|
|
|
|
NM_013352.4(DSE):c.945T>C (p.Asn315=)
|
|
|
|
NM_013352.4(DSE):c.966A>G (p.Pro322=)
|
|
|
|
NM_013352.4(DSE):c.975A>G (p.Gln325=)
|
|
|
|
NM_013352.4(DSE):c.981G>A (p.Val327=)
|
rs951430479
|
|
|
NM_014918.5(CHSY1):c.1002G>T (p.Leu334=)
|
|
|
|
NM_014918.5(CHSY1):c.1167C>T (p.Asp389=)
|
|
|
|
NM_014918.5(CHSY1):c.120G>C (p.Arg40=)
|
|
|
|
NM_014918.5(CHSY1):c.1213T>C (p.Leu405=)
|
|
|
|
NM_014918.5(CHSY1):c.1296C>T (p.Ile432=)
|
|
|
|
NM_014918.5(CHSY1):c.138G>A (p.Glu46=)
|
|
|
|
NM_014918.5(CHSY1):c.1410C>T (p.His470=)
|
|
|
|
NM_014918.5(CHSY1):c.1548C>G (p.Pro516=)
|
|
|
|
NM_014918.5(CHSY1):c.1890C>T (p.Cys630=)
|
|
|
|
NM_014918.5(CHSY1):c.1926G>A (p.Gln642=)
|
|
|
|
NM_014918.5(CHSY1):c.2022C>A (p.Pro674=)
|
|
|
|
NM_014918.5(CHSY1):c.219C>A (p.Pro73=)
|
rs373485537
|
|
|
NM_014918.5(CHSY1):c.2307G>A (p.Ser769=)
|
|
|
|
NM_014918.5(CHSY1):c.2403A>G (p.Thr801=)
|
|
|
|
NM_014918.5(CHSY1):c.306C>A (p.Ala102=)
|
rs753652939
|
|
|
NM_014918.5(CHSY1):c.320+20G>C
|
rs2039105249
|
|
|
NM_014918.5(CHSY1):c.417G>A (p.Val139=)
|
|
|
|
NM_014918.5(CHSY1):c.432G>A (p.Pro144=)
|
|
|
|
NM_014918.5(CHSY1):c.477C>T (p.His159=)
|
|
|
|
NM_014918.5(CHSY1):c.48C>A (p.Leu16=)
|
|
|
|
NM_014918.5(CHSY1):c.582C>G (p.Leu194=)
|
rs1475060155
|
|
|
NM_014918.5(CHSY1):c.813T>C (p.Tyr271=)
|
|
|
|
NM_014918.5(CHSY1):c.816+10G>T
|
|
|
|
NM_014918.5(CHSY1):c.817-11T>C
|
|
|
|
NM_014918.5(CHSY1):c.817-6T>G
|
|
|
|
NM_016277.5(RAB23):c.105A>G (p.Thr35=)
|
rs576194133
|
|
|
NM_016277.5(RAB23):c.108A>G (p.Lys36=)
|
|
|
|
NM_016277.5(RAB23):c.114C>T (p.Tyr38=)
|
rs888229513
|
|
|
NM_016277.5(RAB23):c.126T>C (p.Ile42=)
|
|
|
|
NM_016277.5(RAB23):c.12A>G (p.Glu4=)
|
|
|
|
NM_016277.5(RAB23):c.132T>G (p.Val44=)
|
rs2128004147
|
|
|
NM_016277.5(RAB23):c.139T>C (p.Leu47=)
|
|
|
|
NM_016277.5(RAB23):c.155+11G>A
|
|
|
|
NM_016277.5(RAB23):c.155+11G>C
|
|
|
|
NM_016277.5(RAB23):c.155+17T>C
|
|
|
|
NM_016277.5(RAB23):c.155+8C>T
|
rs2128004127
|
|
|
NM_016277.5(RAB23):c.156-14A>G
|
|
|
|
NM_016277.5(RAB23):c.156-20_156-17del
|
|
|
|
NM_016277.5(RAB23):c.156-8T>C
|
rs1593221684
|
|
|
NM_016277.5(RAB23):c.156-8T>G
|
|
|
|
NM_016277.5(RAB23):c.156-9T>C
|
rs1380069219
|
|
|
NM_016277.5(RAB23):c.156-9_156-8del
|
|
|
|
NM_016277.5(RAB23):c.165T>C (p.Asp55=)
|
|
|
|
NM_016277.5(RAB23):c.177A>G (p.Arg59=)
|
|
|
|
NM_016277.5(RAB23):c.186A>G (p.Leu62=)
|
rs2128002898
|
|
|
NM_016277.5(RAB23):c.207G>A (p.Glu69=)
|
|
|
|
NM_016277.5(RAB23):c.21A>G (p.Glu7=)
|
|
|
|
NM_016277.5(RAB23):c.234C>T (p.Tyr78=)
|
rs2128002860
|
|
|
NM_016277.5(RAB23):c.241+10A>G
|
rs2128002855
|
|
|
NM_016277.5(RAB23):c.241+16T>G
|
|
|
|
NM_016277.5(RAB23):c.242-17_242-16insATTC
|
|
|
|
NM_016277.5(RAB23):c.242-20G>C
|
|
|
|
NM_016277.5(RAB23):c.242-31ATTG[4]
|
rs45542438
|
|
|
NM_016277.5(RAB23):c.242-6T>C
|
rs2127998723
|
|
|
NM_016277.5(RAB23):c.242-7C>T
|
|
|
|
NM_016277.5(RAB23):c.261C>G (p.Leu87=)
|
rs764774207
|
|
|
NM_016277.5(RAB23):c.261C>T (p.Leu87=)
|
rs764774207
|
|
|
NM_016277.5(RAB23):c.273C>G (p.Thr91=)
|
|
|
|
NM_016277.5(RAB23):c.273C>T (p.Thr91=)
|
|
|
|
NM_016277.5(RAB23):c.279T>C (p.Asp93=)
|
|
|
|
NM_016277.5(RAB23):c.27C>T (p.Ala9=)
|
|
|
|
NM_016277.5(RAB23):c.285A>G (p.Glu95=)
|
rs2127998702
|
|
|
NM_016277.5(RAB23):c.312A>G (p.Arg104=)
|
|
|
|
NM_016277.5(RAB23):c.321A>C (p.Val107=)
|
|
|
|
NM_016277.5(RAB23):c.33G>A (p.Lys11=)
|
|
|
|
NM_016277.5(RAB23):c.357G>A (p.Val119=)
|
|
|
|
NM_016277.5(RAB23):c.376C>T (p.Leu126=)
|
|
|
|
NM_016277.5(RAB23):c.387T>C (p.Ser129=)
|
rs1593210265
|
|
|
NM_016277.5(RAB23):c.390T>C (p.Cys130=)
|
rs2127998627
|
|
|
NM_016277.5(RAB23):c.398+18G>A
|
|
|
|
NM_016277.5(RAB23):c.398+9G>T
|
rs376839366
|
|
|
NM_016277.5(RAB23):c.399-15T>A
|
|
|
|
NM_016277.5(RAB23):c.399-7T>C
|
|
|
|
NM_016277.5(RAB23):c.399-9G>T
|
rs1764963102
|
|
|
NM_016277.5(RAB23):c.429A>G (p.Leu143=)
|
rs1186623990
|
|
|
NM_016277.5(RAB23):c.435A>G (p.Leu145=)
|
rs2127998004
|
|
|
NM_016277.5(RAB23):c.453A>C (p.Ser151=)
|
|
|
|
NM_016277.5(RAB23):c.474G>A (p.Val158=)
|
|
|
|
NM_016277.5(RAB23):c.481+16del
|
|
|
|
NM_016277.5(RAB23):c.481+18del
|
|
|
|
NM_016277.5(RAB23):c.481+19A>G
|
|
|
|
NM_016277.5(RAB23):c.481+7T>A
|
rs2127997989
|
|
|
NM_016277.5(RAB23):c.481+8A>C
|
rs2127997988
|
|
|
NM_016277.5(RAB23):c.482-10T>C
|
|
|
|
NM_016277.5(RAB23):c.482-12T>G
|
|
|
|
NM_016277.5(RAB23):c.482-14T>G
|
|
|
|
NM_016277.5(RAB23):c.482-20G>A
|
|
|
|
NM_016277.5(RAB23):c.482-20del
|
|
|
|
NM_016277.5(RAB23):c.482-7A>G
|
rs1221714796
|
|
|
NM_016277.5(RAB23):c.482-8T>G
|
rs1303194537
|
|
|
NM_016277.5(RAB23):c.48G>A (p.Gly16=)
|
|
|
|
NM_016277.5(RAB23):c.48G>T (p.Gly16=)
|
|
|
|
NM_016277.5(RAB23):c.495G>A (p.Leu165=)
|
|
|
|
NM_016277.5(RAB23):c.4T>C (p.Leu2=)
|
rs1593223928
|
|
|
NM_016277.5(RAB23):c.507C>T (p.Tyr169=)
|
rs1593207365
|
|
|
NM_016277.5(RAB23):c.510T>C (p.Leu170=)
|
rs1764929463
|
|
|
NM_016277.5(RAB23):c.525A>G (p.Gln175=)
|
|
|
|
NM_016277.5(RAB23):c.549A>G (p.Leu183=)
|
rs2127997659
|
|
|
NM_016277.5(RAB23):c.551C>T (p.Thr184Met)
|
rs140295281
|
|
|
NM_016277.5(RAB23):c.552G>C (p.Thr184=)
|
rs201731610
|
|
|
NM_016277.5(RAB23):c.552G>T (p.Thr184=)
|
|
|
|
NM_016277.5(RAB23):c.574+20T>G
|
|
|
|
NM_016277.5(RAB23):c.574+7A>G
|
|
|
|
NM_016277.5(RAB23):c.575-12C>A
|
|
|
|
NM_016277.5(RAB23):c.575-15C>T
|
|
|
|
NM_016277.5(RAB23):c.575-5T>A
|
|
|
|
NM_016277.5(RAB23):c.575-7T>A
|
rs2127996399
|
|
|
NM_016277.5(RAB23):c.575-8_575-5dup
|
rs1429640163
|
|
|
NM_016277.5(RAB23):c.576T>G (p.Gly192=)
|
rs2127996390
|
|
|
NM_016277.5(RAB23):c.57A>C (p.Ala19=)
|
|
|
|
NM_016277.5(RAB23):c.60T>G (p.Val20=)
|
rs2128004188
|
|
|
NM_016277.5(RAB23):c.642C>T (p.Val214=)
|
rs1593204004
|
|
|
NM_016277.5(RAB23):c.90C>T (p.Cys30=)
|
|
|
|
NM_017617.5(NOTCH1):c.1005C>A (p.Asn335Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.1014C>T (p.Asp338=)
|
|
|
|
NM_017617.5(NOTCH1):c.1047C>T (p.Thr349=)
|
|
|
|
NM_017617.5(NOTCH1):c.1058G>A (p.Arg353His)
|
|
|
|
NM_017617.5(NOTCH1):c.1059T>C (p.Arg353=)
|
|
|
|
NM_017617.5(NOTCH1):c.105G>C (p.Gly35=)
|
|
|
|
NM_017617.5(NOTCH1):c.1062G>C (p.Val354=)
|
|
|
|
NM_017617.5(NOTCH1):c.1068C>T (p.Ser356=)
|
|
|
|
NM_017617.5(NOTCH1):c.1100-16G>A
|
rs146815871
|
|
|
NM_017617.5(NOTCH1):c.1100-17C>T
|
rs373481386
|
|
|
NM_017617.5(NOTCH1):c.1100-4C>T
|
rs1297218175
|
|
|
NM_017617.5(NOTCH1):c.1110C>T (p.Cys370=)
|
|
|
|
NM_017617.5(NOTCH1):c.1125A>C (p.Ala375=)
|
rs371954544
|
|
|
NM_017617.5(NOTCH1):c.1218C>G (p.Gly406=)
|
|
|
|
NM_017617.5(NOTCH1):c.1251G>C (p.Ser417=)
|
|
|
|
NM_017617.5(NOTCH1):c.1255+10dup
|
|
|
|
NM_017617.5(NOTCH1):c.1255+13dup
|
|
|
|
NM_017617.5(NOTCH1):c.1255+14C>T
|
|
|
|
NM_017617.5(NOTCH1):c.1255+19G>A
|
|
|
|
NM_017617.5(NOTCH1):c.1255+19G>T
|
|
|
|
NM_017617.5(NOTCH1):c.1255+20G>T
|
|
|
|
NM_017617.5(NOTCH1):c.1256-10C>T
|
|
|
|
NM_017617.5(NOTCH1):c.1256-13G>T
|
|
|
|
NM_017617.5(NOTCH1):c.1256-15G>T
|
|
|
|
NM_017617.5(NOTCH1):c.1256-16C>T
|
|
|
|
NM_017617.5(NOTCH1):c.1256-8C>G
|
rs1052776009
|
|
|
NM_017617.5(NOTCH1):c.1256-9C>G
|
rs1401233481
|
|
|
NM_017617.5(NOTCH1):c.1256-9C>T
|
|
|
|
NM_017617.5(NOTCH1):c.1266C>A (p.Pro422=)
|
rs762533002
|
|
|
NM_017617.5(NOTCH1):c.1371C>T (p.Val457=)
|
rs1463940681
|
|
|
NM_017617.5(NOTCH1):c.1373C>T (p.Ser458Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.1374G>A (p.Ser458=)
|
rs886039016
|
|
|
NM_017617.5(NOTCH1):c.1386G>A (p.Gln462=)
|
rs2133368484
|
|
|
NM_017617.5(NOTCH1):c.140+11C>A
|
|
|
|
NM_017617.5(NOTCH1):c.140+14C>T
|
|
|
|
NM_017617.5(NOTCH1):c.140+15T>G
|
|
|
|
NM_017617.5(NOTCH1):c.140+20del
|
rs751297042
|
|
|
NM_017617.5(NOTCH1):c.140+9C>G
|
|
|
|
NM_017617.5(NOTCH1):c.1441+11C>A
|
rs376506127
|
|
|
NM_017617.5(NOTCH1):c.1441+11del
|
|
|
|
NM_017617.5(NOTCH1):c.1442-12C>T
|
rs1241878638
|
|
|
NM_017617.5(NOTCH1):c.1442-17_1442-16del
|
|
|
|
NM_017617.5(NOTCH1):c.1467C>G (p.Val489=)
|
|
|
|
NM_017617.5(NOTCH1):c.1527C>T (p.Ile509=)
|
rs2133367383
|
|
|
NM_017617.5(NOTCH1):c.1530T>C (p.Asn510=)
|
|
|
|
NM_017617.5(NOTCH1):c.1543G>A (p.Glu515Lys)
|
rs749085650
|
|
|
NM_017617.5(NOTCH1):c.1551C>A (p.Pro517=)
|
|
|
|
NM_017617.5(NOTCH1):c.1555+11C>T
|
|
|
|
NM_017617.5(NOTCH1):c.1555+13C>G
|
|
|
|
NM_017617.5(NOTCH1):c.1555+17C>T
|
rs760877301
|
|
|
NM_017617.5(NOTCH1):c.1556-17C>A
|
|
|
|
NM_017617.5(NOTCH1):c.1556-19C>T
|
rs970722201
|
|
|
NM_017617.5(NOTCH1):c.1556-20C>G
|
rs1268079353
|
|
|
NM_017617.5(NOTCH1):c.1556-23TCCCC[2]
|
|
|
|
NM_017617.5(NOTCH1):c.1556-23TCCCC[4]
|
rs747100045
|
|
|
NM_017617.5(NOTCH1):c.1556-23_1556-20del
|
|
|
|
NM_017617.5(NOTCH1):c.1556-4C>T
|
rs2133365542
|
|
|
NM_017617.5(NOTCH1):c.1556-8G>T
|
rs776434236
|
|
|
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr)
|
rs572103199
|
|
|
NM_017617.5(NOTCH1):c.1591G>A (p.Glu531Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.1599C>A (p.Ala533=)
|
rs1304388033
|
|
|
NM_017617.5(NOTCH1):c.1652C>T (p.Thr551Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.1669+9_1669+10inv
|
|
|
|
NM_017617.5(NOTCH1):c.1670-10_1670-9inv
|
|
|
|
NM_017617.5(NOTCH1):c.1670-11C>T
|
|
|
|
NM_017617.5(NOTCH1):c.168A>G (p.Arg56=)
|
|
|
|
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=)
|
rs773932034
|
|
|
NM_017617.5(NOTCH1):c.1702G>A (p.Asp568Asn)
|
rs562413261
|
|
|
NM_017617.5(NOTCH1):c.1713C>T (p.Asp571=)
|
|
|
|
NM_017617.5(NOTCH1):c.1719C>T (p.Asp573=)
|
|
|
|
NM_017617.5(NOTCH1):c.1740C>T (p.Cys580=)
|
|
|
|
NM_017617.5(NOTCH1):c.1741A>G (p.Lys581Glu)
|
rs778992111
|
|
|
NM_017617.5(NOTCH1):c.1752C>T (p.Val584=)
|
rs902251832
|
|
|
NM_017617.5(NOTCH1):c.1755C>T (p.Ala585=)
|
|
|
|
NM_017617.5(NOTCH1):c.1770C>G (p.Leu590=)
|
rs949220276
|
|
|
NM_017617.5(NOTCH1):c.1794C>T (p.His598=)
|
rs1261287469
|
|
|
NM_017617.5(NOTCH1):c.1809C>T (p.Asn603=)
|
|
|
|
NM_017617.5(NOTCH1):c.1821C>T (p.Cys607=)
|
|
|
|
NM_017617.5(NOTCH1):c.1830G>A (p.Gln610=)
|
rs2133363599
|
|
|
NM_017617.5(NOTCH1):c.1848C>A (p.Gly616=)
|
|
|
|
NM_017617.5(NOTCH1):c.1851C>T (p.Thr617=)
|
rs761199261
|
|
|
NM_017617.5(NOTCH1):c.1857G>A (p.Gln619=)
|
|
|
|
NM_017617.5(NOTCH1):c.186G>A (p.Pro62=)
|
rs374320445
|
|
|
NM_017617.5(NOTCH1):c.1899C>G (p.Thr633=)
|
|
|
|
NM_017617.5(NOTCH1):c.1903+14C>G
|
|
|
|
NM_017617.5(NOTCH1):c.1903+7G>A
|
rs760116150
|
|
|
NM_017617.5(NOTCH1):c.1903+7G>T
|
rs760116150
|
|
|
NM_017617.5(NOTCH1):c.1904-15G>A
|
|
|
|
NM_017617.5(NOTCH1):c.1904-16C>A
|
|
|
|
NM_017617.5(NOTCH1):c.1904-16C>T
|
rs775848413
|
|
|
NM_017617.5(NOTCH1):c.1904-17A>C
|
|
|
|
NM_017617.5(NOTCH1):c.1904-20G>A
|
|
|
|
NM_017617.5(NOTCH1):c.1904-20G>C
|
|
|
|
NM_017617.5(NOTCH1):c.1904-9C>T
|
rs2133362915
|
|
|
NM_017617.5(NOTCH1):c.1915G>A (p.Glu639Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.1923C>T (p.Asn641=)
|
|
|
|
NM_017617.5(NOTCH1):c.1959C>A (p.Gly653=)
|
rs776402525
|
|
|
NM_017617.5(NOTCH1):c.1961C>T (p.Thr654Ile)
|
rs765651994
|
|
|
NM_017617.5(NOTCH1):c.1966C>T (p.Leu656=)
|
rs776930100
|
|
|
NM_017617.5(NOTCH1):c.1971C>T (p.Asp657=)
|
rs1843246881
|
|
|
NM_017617.5(NOTCH1):c.1977C>T (p.Ile659=)
|
rs766577980
|
|
|
NM_017617.5(NOTCH1):c.2014+10C>A
|
rs1589065951
|
|
|
NM_017617.5(NOTCH1):c.2014+10C>T
|
|
|
|
NM_017617.5(NOTCH1):c.2014+11C>T
|
rs1348123089
|
|
|
NM_017617.5(NOTCH1):c.2014+17G>A
|
|
|
|
NM_017617.5(NOTCH1):c.2014+17G>T
|
|
|
|
NM_017617.5(NOTCH1):c.2014+8G>A
|
|
|
|
NM_017617.5(NOTCH1):c.2015-10C>T
|
|
|
|
NM_017617.5(NOTCH1):c.2015-11C>T
|
|
|
|
NM_017617.5(NOTCH1):c.2015-13G>C
|
rs772867940
|
|
|
NM_017617.5(NOTCH1):c.201C>A (p.Pro67=)
|
rs764636339
|
|
|
NM_017617.5(NOTCH1):c.2026A>T (p.Asn676Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.2033A>G (p.Asn678Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.2056C>T (p.Pro686Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.2103C>A (p.Thr701=)
|
|
|
|
NM_017617.5(NOTCH1):c.2103C>G (p.Thr701=)
|
|
|
|
NM_017617.5(NOTCH1):c.2118G>A (p.Glu706=)
|
|
|
|
NM_017617.5(NOTCH1):c.2181C>T (p.His727=)
|
|
|
|
NM_017617.5(NOTCH1):c.2207+19C>G
|
|
|
|
NM_017617.5(NOTCH1):c.2208-10C>T
|
|
|
|
NM_017617.5(NOTCH1):c.2208-11C>G
|
|
|
|
NM_017617.5(NOTCH1):c.2208-14G>C
|
|
|
|
NM_017617.5(NOTCH1):c.2218G>T (p.Asp740Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.2291A>G (p.Asn764Ser)
|
rs1454630791
|
|
|
NM_017617.5(NOTCH1):c.2296G>A (p.Gly766Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.2318G>T (p.Ser773Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.2326G>T (p.Val776Leu)
|
rs377286829
|
|
|
NM_017617.5(NOTCH1):c.232G>A (p.Asp78Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.2333C>T (p.Thr778Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.2334C>T (p.Thr778=)
|
rs1246624794
|
|
|
NM_017617.5(NOTCH1):c.2346C>A (p.Gly782=)
|
|
|
|
NM_017617.5(NOTCH1):c.2353+11T>A
|
|
|
|
NM_017617.5(NOTCH1):c.2353+16G>A
|
|
|
|
NM_017617.5(NOTCH1):c.2353+20C>G
|
|
|
|
NM_017617.5(NOTCH1):c.2354-16G>A
|
|
|
|
NM_017617.5(NOTCH1):c.2354-8C>T
|
rs779665060
|
|
|
NM_017617.5(NOTCH1):c.2354-9T>C
|
|
|
|
NM_017617.5(NOTCH1):c.240A>G (p.Arg80=)
|
|
|
|
NM_017617.5(NOTCH1):c.2415G>A (p.Thr805=)
|
rs774284462
|
|
|
NM_017617.5(NOTCH1):c.2415G>C (p.Thr805=)
|
rs774284462
|
|
|
NM_017617.5(NOTCH1):c.2415G>T (p.Thr805=)
|
|
|
|
NM_017617.5(NOTCH1):c.2439C>T (p.Tyr813=)
|
rs1057515422
|
|
|
NM_017617.5(NOTCH1):c.2448C>T (p.Asn816=)
|
rs1422745093
|
|
|
NM_017617.5(NOTCH1):c.2460C>G (p.Pro820=)
|
|
|
|
NM_017617.5(NOTCH1):c.2468-10C>T
|
rs2133355112
|
|
|
NM_017617.5(NOTCH1):c.2468-5C>T
|
|
|
|
NM_017617.5(NOTCH1):c.2468-6C>G
|
|
|
|
NM_017617.5(NOTCH1):c.2475G>A (p.Thr825=)
|
rs766045141
|
|
|
NM_017617.5(NOTCH1):c.2479G>A (p.Glu827Lys)
|
rs760376139
|
|
|
NM_017617.5(NOTCH1):c.2481G>A (p.Glu827=)
|
|
|
|
NM_017617.5(NOTCH1):c.2496G>A (p.Pro832=)
|
rs61751551
|
|
|
NM_017617.5(NOTCH1):c.2514C>T (p.Cys838=)
|
rs1554728839
|
|
|
NM_017617.5(NOTCH1):c.2521G>C (p.Gly841Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.2529G>A (p.Glu843=)
|
rs1191070636
|
|
|
NM_017617.5(NOTCH1):c.2538A>G (p.Gln846=)
|
|
|
|
NM_017617.5(NOTCH1):c.2574C>T (p.Pro858=)
|
rs1589063028
|
|
|
NM_017617.5(NOTCH1):c.2587+19C>T
|
|
|
|
NM_017617.5(NOTCH1):c.2588-11C>G
|
|
|
|
NM_017617.5(NOTCH1):c.2588-17del
|
|
|
|
NM_017617.5(NOTCH1):c.2588-20G>A
|
rs371359766
|
|
|
NM_017617.5(NOTCH1):c.2588-20G>C
|
|
|
|
NM_017617.5(NOTCH1):c.2588-7C>T
|
|
|
|
NM_017617.5(NOTCH1):c.258C>G (p.Ala86=)
|
|
|
|
NM_017617.5(NOTCH1):c.2594C>T (p.Thr865Ile)
|
|
|
|
NM_017617.5(NOTCH1):c.2631G>C (p.Pro877=)
|
|
|
|
NM_017617.5(NOTCH1):c.2661C>T (p.Thr887=)
|
|
|
|
NM_017617.5(NOTCH1):c.2670C>T (p.Gly890=)
|
|
|
|
NM_017617.5(NOTCH1):c.2673C>T (p.Tyr891=)
|
|
|
|
NM_017617.5(NOTCH1):c.2679C>T (p.Cys893=)
|
rs373306460
|
|
|
NM_017617.5(NOTCH1):c.2685C>T (p.Cys895=)
|
rs2133353146
|
|
|
NM_017617.5(NOTCH1):c.2705G>A (p.Arg902His)
|
rs373075482
|
|
|
NM_017617.5(NOTCH1):c.271C>T (p.Leu91=)
|
|
|
|
NM_017617.5(NOTCH1):c.2740+12C>A
|
|
|
|
NM_017617.5(NOTCH1):c.2740+12C>G
|
|
|
|
NM_017617.5(NOTCH1):c.2740+15G>A
|
|
|
|
NM_017617.5(NOTCH1):c.2740+16del
|
|
|
|
NM_017617.5(NOTCH1):c.2740+17C>T
|
|
|
|
NM_017617.5(NOTCH1):c.2740+18T>C
|
|
|
|
NM_017617.5(NOTCH1):c.2741-12G>C
|
|
|
|
NM_017617.5(NOTCH1):c.2741-17C>T
|
|
|
|
NM_017617.5(NOTCH1):c.2741-7C>T
|
|
|
|
NM_017617.5(NOTCH1):c.2757G>A (p.Gly919=)
|
rs1843152166
|
|
|
NM_017617.5(NOTCH1):c.2786C>A (p.Ala929Asp)
|
rs1218875928
|
|
|
NM_017617.5(NOTCH1):c.2794G>A (p.Asp932Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.2802G>A (p.Leu934=)
|
|
|
|
NM_017617.5(NOTCH1):c.2811C>T (p.Phe937=)
|
rs2133351104
|
|
|
NM_017617.5(NOTCH1):c.2844G>A (p.Glu948=)
|
rs2133350962
|
|
|
NM_017617.5(NOTCH1):c.2859C>T (p.Pro953=)
|
rs2133350864
|
|
|
NM_017617.5(NOTCH1):c.2864G>A (p.Arg955His)
|
rs557049479
|
|
|
NM_017617.5(NOTCH1):c.2871G>T (p.Gly957=)
|
|
|
|
NM_017617.5(NOTCH1):c.2883G>A (p.Thr961=)
|
|
|
|
NM_017617.5(NOTCH1):c.2883G>T (p.Thr961=)
|
rs774785001
|
|
|
NM_017617.5(NOTCH1):c.2896A>G (p.Ser966Gly)
|
|
|
|
NM_017617.5(NOTCH1):c.289C>T (p.Leu97Phe)
|
|
|
|
NM_017617.5(NOTCH1):c.2919A>G (p.Ala973=)
|
rs766105850
|
|
|
NM_017617.5(NOTCH1):c.2922C>T (p.Gly974=)
|
rs1380594425
|
|
|
NM_017617.5(NOTCH1):c.2931G>C (p.Gly977=)
|
rs767071793
|
|
|
NM_017617.5(NOTCH1):c.2935C>T (p.His979Tyr)
|
rs1380298048
|
|
|
NM_017617.5(NOTCH1):c.2958C>T (p.Asp986=)
|
rs775739575
|
|
|
NM_017617.5(NOTCH1):c.2969+13C>G
|
|
|
|
NM_017617.5(NOTCH1):c.2969+9G>A
|
|
|
|
NM_017617.5(NOTCH1):c.2970-10C>T
|
rs2133349102
|
|
|
NM_017617.5(NOTCH1):c.2970-20G>T
|
rs367927174
|
|
|
NM_017617.5(NOTCH1):c.2970-5T>G
|
|
|
|
NM_017617.5(NOTCH1):c.2970-7C>T
|
|
|
|
NM_017617.5(NOTCH1):c.2970-9C>G
|
|
|
|
NM_017617.5(NOTCH1):c.3000C>T (p.Asp1000=)
|
|
|
|
NM_017617.5(NOTCH1):c.3036C>T (p.Gly1012=)
|
|
|
|
NM_017617.5(NOTCH1):c.3042G>C (p.Thr1014=)
|
|
|
|
NM_017617.5(NOTCH1):c.304C>T (p.Leu102=)
|
|
|
|
NM_017617.5(NOTCH1):c.3067A>G (p.Asn1023Asp)
|
|
|
|
NM_017617.5(NOTCH1):c.3087C>A (p.Pro1029=)
|
|
|
|
NM_017617.5(NOTCH1):c.3087C>T (p.Pro1029=)
|
|
|
|
NM_017617.5(NOTCH1):c.3129C>T (p.Tyr1043=)
|
rs752650941
|
|
|
NM_017617.5(NOTCH1):c.3150C>A (p.Gly1050=)
|
rs1060504523
|
|
|
NM_017617.5(NOTCH1):c.3156T>G (p.Thr1052=)
|
|
|
|
NM_017617.5(NOTCH1):c.3160C>T (p.Pro1054Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.3171+11C>T
|
|
|
|
NM_017617.5(NOTCH1):c.3171+14C>G
|
|
|
|
NM_017617.5(NOTCH1):c.3172-14C>T
|
|
|
|
NM_017617.5(NOTCH1):c.3172-4C>G
|
|
|
|
NM_017617.5(NOTCH1):c.3172-4C>T
|
|
|
|
NM_017617.5(NOTCH1):c.3172-5C>G
|
|
|
|
NM_017617.5(NOTCH1):c.3192C>T (p.Asp1064=)
|
rs587778565
|
|
|
NM_017617.5(NOTCH1):c.3197C>T (p.Ser1066Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.3261C>A (p.Ser1087Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.3262G>A (p.Gly1088Ser)
|
rs531420022
|
|
|
NM_017617.5(NOTCH1):c.3283G>A (p.Asp1095Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.3291C>T (p.Pro1097=)
|
rs1234909362
|
|
|
NM_017617.5(NOTCH1):c.3300C>G (p.Ser1100=)
|
rs1484716795
|
|
|
NM_017617.5(NOTCH1):c.3312T>A (p.Ala1104=)
|
rs2133347063
|
|
|
NM_017617.5(NOTCH1):c.3315G>A (p.Ala1105=)
|
rs3812602
|
|
|
NM_017617.5(NOTCH1):c.3325+10T>C
|
rs1060504526
|
|
|
NM_017617.5(NOTCH1):c.3325+18C>T
|
rs762473735
|
|
|
NM_017617.5(NOTCH1):c.3326-13C>A
|
|
|
|
NM_017617.5(NOTCH1):c.3326-14C>G
|
|
|
|
NM_017617.5(NOTCH1):c.3326-15C>A
|
rs371180086
|
|
|
NM_017617.5(NOTCH1):c.3326-8C>T
|
rs2133346689
|
|
|
NM_017617.5(NOTCH1):c.3326-9C>T
|
rs994509635
|
|
|
NM_017617.5(NOTCH1):c.3327T>C (p.Gly1109=)
|
|
|
|
NM_017617.5(NOTCH1):c.3345G>T (p.Leu1115=)
|
rs752440904
|
|
|
NM_017617.5(NOTCH1):c.3372C>T (p.Asp1124=)
|
rs530959956
|
|
|
NM_017617.5(NOTCH1):c.3383C>T (p.Thr1128Met)
|
|
|
|
NM_017617.5(NOTCH1):c.338A>G (p.Asn113Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.3426T>C (p.Cys1142=)
|
|
|
|
NM_017617.5(NOTCH1):c.3495C>A (p.Gly1165=)
|
|
|
|
NM_017617.5(NOTCH1):c.3504C>G (p.Ser1168=)
|
|
|
|
NM_017617.5(NOTCH1):c.3504C>T (p.Ser1168=)
|
rs1475139232
|
|
|
NM_017617.5(NOTCH1):c.3510+11C>T
|
rs1057524613
|
|
|
NM_017617.5(NOTCH1):c.3510+9C>T
|
|
|
|
NM_017617.5(NOTCH1):c.3511-13G>A
|
|
|
|
NM_017617.5(NOTCH1):c.3511-15C>G
|
|
|
|
NM_017617.5(NOTCH1):c.3511-18G>A
|
|
|
|
NM_017617.5(NOTCH1):c.3511-18G>T
|
rs780629106
|
|
|
NM_017617.5(NOTCH1):c.3542C>T (p.Ser1181Phe)
|
|
|
|
NM_017617.5(NOTCH1):c.3547G>A (p.Glu1183Lys)
|
rs1300209111
|
|
|
NM_017617.5(NOTCH1):c.3549G>A (p.Glu1183=)
|
rs760814014
|
|
|
NM_017617.5(NOTCH1):c.354C>T (p.Asp118=)
|
|
|
|
NM_017617.5(NOTCH1):c.3579G>A (p.Gln1193=)
|
rs61751544
|
|
|
NM_017617.5(NOTCH1):c.3585G>A (p.Gly1195=)
|
rs1843105001
|
|
|
NM_017617.5(NOTCH1):c.3644-14A>G
|
|
|
|
NM_017617.5(NOTCH1):c.3660C>T (p.Ile1220=)
|
|
|
|
NM_017617.5(NOTCH1):c.3667G>A (p.Asp1223Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.3693C>G (p.Pro1231=)
|
|
|
|
NM_017617.5(NOTCH1):c.36G>T (p.Ala12=)
|
rs1843806561
|
|
|
NM_017617.5(NOTCH1):c.3768G>T (p.Pro1256=)
|
rs779987984
|
|
|
NM_017617.5(NOTCH1):c.3813C>T (p.Cys1271=)
|
|
|
|
NM_017617.5(NOTCH1):c.3819C>G (p.Ser1273=)
|
rs2133343514
|
|
|
NM_017617.5(NOTCH1):c.3833C>T (p.Ala1278Val)
|
|
|
|
NM_017617.5(NOTCH1):c.3853G>T (p.Val1285Leu)
|
rs756972680
|
|
|
NM_017617.5(NOTCH1):c.387C>T (p.Cys129=)
|
|
|
|
NM_017617.5(NOTCH1):c.3891T>C (p.Ala1297=)
|
|
|
|
NM_017617.5(NOTCH1):c.3901+20G>A
|
|
|
|
NM_017617.5(NOTCH1):c.3901+9C>A
|
|
|
|
NM_017617.5(NOTCH1):c.3902-5C>T
|
|
|
|
NM_017617.5(NOTCH1):c.3902-6C>T
|
rs1226411358
|
|
|
NM_017617.5(NOTCH1):c.3902-7C>T
|
|
|
|
NM_017617.5(NOTCH1):c.3907C>T (p.Arg1303Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.390G>C (p.Pro130=)
|
|
|
|
NM_017617.5(NOTCH1):c.390G>T (p.Pro130=)
|
rs61751559
|
|
|
NM_017617.5(NOTCH1):c.3912C>T (p.Cys1304=)
|
|
|
|
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=)
|
rs1554728133
|
|
|
NM_017617.5(NOTCH1):c.4015-19T>C
|
|
|
|
NM_017617.5(NOTCH1):c.4026C>T (p.Gly1342=)
|
|
|
|
NM_017617.5(NOTCH1):c.4029C>A (p.Ala1343=)
|
rs969014492
|
|
|
NM_017617.5(NOTCH1):c.403+14C>T
|
|
|
|
NM_017617.5(NOTCH1):c.403+16C>T
|
|
|
|
NM_017617.5(NOTCH1):c.403+19C>T
|
|
|
|
NM_017617.5(NOTCH1):c.4031C>T (p.Thr1344Met)
|
rs201215245
|
|
|
NM_017617.5(NOTCH1):c.4032G>A (p.Thr1344=)
|
|
|
|
NM_017617.5(NOTCH1):c.404-5T>C
|
rs1229789449
|
|
|
NM_017617.5(NOTCH1):c.404-6C>G
|
|
|
|
NM_017617.5(NOTCH1):c.4049G>A (p.Arg1350His)
|
rs150343794
|
|
|
NM_017617.5(NOTCH1):c.4049G>T (p.Arg1350Leu)
|
rs150343794
|
|
|
NM_017617.5(NOTCH1):c.4053C>A (p.Thr1351=)
|
rs1267241464
|
|
|
NM_017617.5(NOTCH1):c.4058G>A (p.Gly1353Asp)
|
rs1274662962
|
|
|
NM_017617.5(NOTCH1):c.405G>A (p.Gly135=)
|
|
|
|
NM_017617.5(NOTCH1):c.4098C>G (p.Gly1366=)
|
rs2133340927
|
|
|
NM_017617.5(NOTCH1):c.411G>T (p.Ser137=)
|
rs560826996
|
|
|
NM_017617.5(NOTCH1):c.4128C>G (p.Gly1376=)
|
rs1292953898
|
|
|
NM_017617.5(NOTCH1):c.4137G>C (p.Thr1379=)
|
rs762733162
|
|
|
NM_017617.5(NOTCH1):c.4144G>A (p.Glu1382Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.4149C>T (p.Cys1383=)
|
rs1843072777
|
|
|
NM_017617.5(NOTCH1):c.4173C>T (p.Cys1391=)
|
rs1589058923
|
|
|
NM_017617.5(NOTCH1):c.4212G>A (p.Glu1404=)
|
rs2133340344
|
|
|
NM_017617.5(NOTCH1):c.4236C>T (p.Tyr1412=)
|
|
|
|
NM_017617.5(NOTCH1):c.4266G>A (p.Gly1422=)
|
|
|
|
NM_017617.5(NOTCH1):c.4287C>T (p.Asp1429=)
|
rs2133339971
|
|
|
NM_017617.5(NOTCH1):c.4297G>A (p.Gly1433Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.429G>T (p.Pro143=)
|
rs757406877
|
|
|
NM_017617.5(NOTCH1):c.4311G>T (p.Gly1437=)
|
|
|
|
NM_017617.5(NOTCH1):c.4335C>T (p.Ile1445=)
|
rs373960609
|
|
|
NM_017617.5(NOTCH1):c.433G>T (p.Ala145Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.4343C>T (p.Ala1448Val)
|
|
|
|
NM_017617.5(NOTCH1):c.4356C>A (p.Pro1452=)
|
|
|
|
NM_017617.5(NOTCH1):c.4362C>T (p.Cys1454=)
|
rs944984360
|
|
|
NM_017617.5(NOTCH1):c.4374G>C (p.Ala1458=)
|
|
|
|
NM_017617.5(NOTCH1):c.4383G>A (p.Lys1461=)
|
|
|
|
NM_017617.5(NOTCH1):c.4389C>T (p.Cys1463=)
|
|
|
|
NM_017617.5(NOTCH1):c.438C>T (p.Ser146=)
|
rs1589072128
|
|
|
NM_017617.5(NOTCH1):c.4443C>T (p.Leu1481=)
|
rs2133339138
|
|
|
NM_017617.5(NOTCH1):c.4470C>T (p.Cys1490=)
|
|
|
|
NM_017617.5(NOTCH1):c.4477T>C (p.Ser1493Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.4480C>T (p.Leu1494=)
|
|
|
|
NM_017617.5(NOTCH1):c.4482G>A (p.Leu1494=)
|
|
|
|
NM_017617.5(NOTCH1):c.4482G>T (p.Leu1494=)
|
|
|
|
NM_017617.5(NOTCH1):c.4497C>T (p.Tyr1499=)
|
rs1843064502
|
|
|
NM_017617.5(NOTCH1):c.4548C>G (p.Phe1516Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.4560C>T (p.Asp1520=)
|
rs1057523575
|
|
|
NM_017617.5(NOTCH1):c.456T>C (p.Gly152=)
|
rs1044385750
|
|
|
NM_017617.5(NOTCH1):c.4586+11G>A
|
|
|
|
NM_017617.5(NOTCH1):c.4586+11G>C
|
rs777578180
|
|
|
NM_017617.5(NOTCH1):c.4586+14G>A
|
|
|
|
NM_017617.5(NOTCH1):c.4586+17C>T
|
|
|
|
NM_017617.5(NOTCH1):c.4587-10C>A
|
|
|
|
NM_017617.5(NOTCH1):c.4587-10C>T
|
|
|
|
NM_017617.5(NOTCH1):c.4587-12C>T
|
|
|
|
NM_017617.5(NOTCH1):c.4587-18G>A
|
|
|
|
NM_017617.5(NOTCH1):c.4587-4A>G
|
rs2133337921
|
|
|
NM_017617.5(NOTCH1):c.4587-5C>G
|
|
|
|
NM_017617.5(NOTCH1):c.4587-5C>T
|
|
|
|
NM_017617.5(NOTCH1):c.4590C>G (p.Pro1530=)
|
rs1357545431
|
|
|
NM_017617.5(NOTCH1):c.4593G>A (p.Leu1531=)
|
|
|
|
NM_017617.5(NOTCH1):c.45C>T (p.Pro15=)
|
rs764936481
|
|
|
NM_017617.5(NOTCH1):c.4624G>A (p.Asp1542Asn)
|
rs1339004050
|
|
|
NM_017617.5(NOTCH1):c.4659G>A (p.Glu1553=)
|
|
|
|
NM_017617.5(NOTCH1):c.4664A>T (p.Glu1555Val)
|
|
|
|
NM_017617.5(NOTCH1):c.4720C>T (p.Leu1574=)
|
rs2133337220
|
|
|
NM_017617.5(NOTCH1):c.4749G>A (p.Glu1583=)
|
|
|
|
NM_017617.5(NOTCH1):c.475G>C (p.Glu159Gln)
|
|
|
|
NM_017617.5(NOTCH1):c.4761C>T (p.Asn1587=)
|
rs777947269
|
|
|
NM_017617.5(NOTCH1):c.4780C>T (p.Arg1594Trp)
|
|
|
|
NM_017617.5(NOTCH1):c.4788C>T (p.Leu1596=)
|
rs2133336800
|
|
|
NM_017617.5(NOTCH1):c.4791C>T (p.Ser1597=)
|
|
|
|
NM_017617.5(NOTCH1):c.4794C>G (p.Arg1598=)
|
rs558708604
|
|
|
NM_017617.5(NOTCH1):c.4806C>G (p.Thr1602=)
|
|
|
|
NM_017617.5(NOTCH1):c.480C>T (p.Ala160=)
|
rs762389418
|
|
|
NM_017617.5(NOTCH1):c.4812G>C (p.Val1604=)
|
|
|
|
NM_017617.5(NOTCH1):c.4814T>C (p.Val1605Ala)
|
|
|
|
NM_017617.5(NOTCH1):c.4857C>T (p.Tyr1619=)
|
|
|
|
NM_017617.5(NOTCH1):c.4861G>A (p.Gly1621Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.4864C>T (p.Arg1622Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.4866C>G (p.Arg1622=)
|
rs772314400
|
|
|
NM_017617.5(NOTCH1):c.486C>T (p.Tyr162=)
|
|
|
|
NM_017617.5(NOTCH1):c.4878G>A (p.Leu1626=)
|
|
|
|
NM_017617.5(NOTCH1):c.4897C>A (p.Arg1633Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.4902C>G (p.Ala1634=)
|
|
|
|
NM_017617.5(NOTCH1):c.4902C>T (p.Ala1634=)
|
|
|
|
NM_017617.5(NOTCH1):c.4911C>G (p.Gly1637=)
|
|
|
|
NM_017617.5(NOTCH1):c.4917C>A (p.Ala1639=)
|
|
|
|
NM_017617.5(NOTCH1):c.4932G>C (p.Leu1644=)
|
|
|
|
NM_017617.5(NOTCH1):c.4953G>A (p.Ser1651=)
|
rs761306198
|
|
|
NM_017617.5(NOTCH1):c.4953G>T (p.Ser1651=)
|
rs761306198
|
|
|
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=)
|
rs367838230
|
|
|
NM_017617.5(NOTCH1):c.5016C>T (p.Arg1672=)
|
rs1251609154
|
|
|
NM_017617.5(NOTCH1):c.5018+12C>T
|
rs1225398496
|
|
|
NM_017617.5(NOTCH1):c.5019-10G>A
|
|
|
|
NM_017617.5(NOTCH1):c.5019-18C>T
|
|
|
|
NM_017617.5(NOTCH1):c.5019-20CT[2]
|
rs748274615
|
|
|
NM_017617.5(NOTCH1):c.5019-9T>C
|
rs1589057393
|
|
|
NM_017617.5(NOTCH1):c.501A>T (p.Pro167=)
|
rs1554730657
|
|
|
NM_017617.5(NOTCH1):c.5032C>T (p.Leu1678=)
|
|
|
|
NM_017617.5(NOTCH1):c.5064C>G (p.Ala1688=)
|
|
|
|
NM_017617.5(NOTCH1):c.5073G>C (p.Gln1691His)
|
rs61751538
|
|
|
NM_017617.5(NOTCH1):c.5119G>A (p.Ala1707Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.5124G>A (p.Ser1708=)
|
rs35980907
|
|
|
NM_017617.5(NOTCH1):c.5154C>A (p.Ile1718=)
|
|
|
|
NM_017617.5(NOTCH1):c.5155G>A (p.Glu1719Lys)
|
rs750085425
|
|
|
NM_017617.5(NOTCH1):c.5167+18C>A
|
|
|
|
NM_017617.5(NOTCH1):c.5167+19C>G
|
rs751046078
|
|
|
NM_017617.5(NOTCH1):c.5167+20G>A
|
|
|
|
NM_017617.5(NOTCH1):c.5168-16G>A
|
rs2133331940
|
|
|
NM_017617.5(NOTCH1):c.5168-18del
|
|
|
|
NM_017617.5(NOTCH1):c.5168-20C>T
|
|
|
|
NM_017617.5(NOTCH1):c.5168-5C>G
|
|
|
|
NM_017617.5(NOTCH1):c.5168-7C>T
|
rs1589056781
|
|
|
NM_017617.5(NOTCH1):c.5168-8G>A
|
rs781506247
|
|
|
NM_017617.5(NOTCH1):c.5181G>A (p.Glu1727=)
|
|
|
|
NM_017617.5(NOTCH1):c.5195C>T (p.Ala1732Val)
|
rs768040014
|
|
|
NM_017617.5(NOTCH1):c.5196G>A (p.Ala1732=)
|
|
|
|
NM_017617.5(NOTCH1):c.5201T>A (p.Leu1734Gln)
|
rs780546252
|
|
|
NM_017617.5(NOTCH1):c.5215G>A (p.Val1739Met)
|
rs377294245
|
|
|
NM_017617.5(NOTCH1):c.5227G>A (p.Ala1743Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.5256C>T (p.Cys1752=)
|
|
|
|
NM_017617.5(NOTCH1):c.525C>T (p.Cys175=)
|
|
|
|
NM_017617.5(NOTCH1):c.5266C>T (p.Leu1756=)
|
rs746342953
|
|
|
NM_017617.5(NOTCH1):c.5272C>T (p.Arg1758Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.5281C>T (p.Arg1761Trp)
|
|
|
|
NM_017617.5(NOTCH1):c.5298G>A (p.Gln1766=)
|
|
|
|
NM_017617.5(NOTCH1):c.5307C>T (p.Phe1769=)
|
rs1400804279
|
|
|
NM_017617.5(NOTCH1):c.5333C>T (p.Ala1778Val)
|
|
|
|
NM_017617.5(NOTCH1):c.5358C>T (p.Pro1786=)
|
|
|
|
NM_017617.5(NOTCH1):c.5370C>T (p.Asp1790=)
|
rs2133330858
|
|
|
NM_017617.5(NOTCH1):c.5384+8G>A
|
|
|
|
NM_017617.5(NOTCH1):c.5385-10C>T
|
rs2133330224
|
|
|
NM_017617.5(NOTCH1):c.5385-17G>A
|
rs746960421
|
|
|
NM_017617.5(NOTCH1):c.5385-7C>T
|
|
|
|
NM_017617.5(NOTCH1):c.5385-9A>G
|
rs2133330218
|
|
|
NM_017617.5(NOTCH1):c.5388C>T (p.Pro1796=)
|
|
|
|
NM_017617.5(NOTCH1):c.5394G>A (p.Lys1798=)
|
|
|
|
NM_017617.5(NOTCH1):c.5438G>C (p.Trp1813Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.5446G>A (p.Glu1816Lys)
|
|
|
|
NM_017617.5(NOTCH1):c.5472+15T>A
|
|
|
|
NM_017617.5(NOTCH1):c.5472+16C>T
|
|
|
|
NM_017617.5(NOTCH1):c.5472+18C>A
|
|
|
|
NM_017617.5(NOTCH1):c.5472+18C>G
|
|
|
|
NM_017617.5(NOTCH1):c.5472+19G>A
|
|
|
|
NM_017617.5(NOTCH1):c.5472+19G>C
|
rs755674060
|
|
|
NM_017617.5(NOTCH1):c.5472+7C>T
|
|
|
|
NM_017617.5(NOTCH1):c.5472+8G>T
|
|
|
|
NM_017617.5(NOTCH1):c.5473-12C>T
|
|
|
|
NM_017617.5(NOTCH1):c.5473-15A>C
|
|
|
|
NM_017617.5(NOTCH1):c.5475C>T (p.Phe1825=)
|
|
|
|
NM_017617.5(NOTCH1):c.5502G>C (p.Leu1834=)
|
rs1259279311
|
|
|
NM_017617.5(NOTCH1):c.5532T>C (p.Thr1844=)
|
|
|
|
NM_017617.5(NOTCH1):c.553A>C (p.Lys185Gln)
|
|
|
|
NM_017617.5(NOTCH1):c.5557C>T (p.Leu1853=)
|
|
|
|
NM_017617.5(NOTCH1):c.5559G>A (p.Leu1853=)
|
|
|
|
NM_017617.5(NOTCH1):c.5561G>A (p.Arg1854His)
|
rs878855028
|
|
|
NM_017617.5(NOTCH1):c.5571C>T (p.Ala1857=)
|
|
|
|
NM_017617.5(NOTCH1):c.5605G>T (p.Ala1869Ser)
|
rs200603539
|
|
|
NM_017617.5(NOTCH1):c.5638+19A>C
|
|
|
|
NM_017617.5(NOTCH1):c.5639-10G>C
|
rs1842984290
|
|
|
NM_017617.5(NOTCH1):c.5639-14C>T
|
|
|
|
NM_017617.5(NOTCH1):c.5639-16G>A
|
|
|
|
NM_017617.5(NOTCH1):c.5639-19C>A
|
|
|
|
NM_017617.5(NOTCH1):c.5639-7T>C
|
rs1842984230
|
|
|
NM_017617.5(NOTCH1):c.5661C>T (p.Ile1887=)
|
rs750185397
|
|
|
NM_017617.5(NOTCH1):c.5680G>A (p.Gly1894Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.5685G>A (p.Leu1895=)
|
rs1060504521
|
|
|
NM_017617.5(NOTCH1):c.5691G>A (p.Thr1897=)
|
rs373612059
|
|
|
NM_017617.5(NOTCH1):c.5717C>T (p.Ala1906Val)
|
|
|
|
NM_017617.5(NOTCH1):c.5733C>A (p.Ser1911=)
|
|
|
|
NM_017617.5(NOTCH1):c.5742C>T (p.Ile1914=)
|
|
|
|
NM_017617.5(NOTCH1):c.5751C>A (p.Gly1917=)
|
rs752199771
|
|
|
NM_017617.5(NOTCH1):c.5751C>T (p.Gly1917=)
|
|
|
|
NM_017617.5(NOTCH1):c.5772A>C (p.Thr1924=)
|
|
|
|
NM_017617.5(NOTCH1):c.5777G>T (p.Arg1926Leu)
|
rs771407924
|
|
|
NM_017617.5(NOTCH1):c.5814C>T (p.Tyr1938=)
|
|
|
|
NM_017617.5(NOTCH1):c.5820C>T (p.Arg1940=)
|
|
|
|
NM_017617.5(NOTCH1):c.5907G>A (p.Val1969=)
|
|
|
|
NM_017617.5(NOTCH1):c.5919A>G (p.Ala1973=)
|
rs781224907
|
|
|
NM_017617.5(NOTCH1):c.5934+10G>A
|
|
|
|
NM_017617.5(NOTCH1):c.5934+12C>G
|
|
|
|
NM_017617.5(NOTCH1):c.5934+20G>A
|
|
|
|
NM_017617.5(NOTCH1):c.5935-19G>A
|
|
|
|
NM_017617.5(NOTCH1):c.5944C>A (p.Arg1982=)
|
|
|
|
NM_017617.5(NOTCH1):c.5944C>T (p.Arg1982Trp)
|
|
|
|
NM_017617.5(NOTCH1):c.5952A>G (p.Arg1984=)
|
|
|
|
NM_017617.5(NOTCH1):c.5995C>T (p.Leu1999=)
|
|
|
|
NM_017617.5(NOTCH1):c.6009C>T (p.Ala2003=)
|
|
|
|
NM_017617.5(NOTCH1):c.6018C>T (p.Ala2006=)
|
rs748935957
|
|
|
NM_017617.5(NOTCH1):c.6019G>A (p.Val2007Met)
|
|
|
|
NM_017617.5(NOTCH1):c.6027C>T (p.Gly2009=)
|
rs1232741465
|
|
|
NM_017617.5(NOTCH1):c.6054C>A (p.His2018Gln)
|
rs202198360
|
|
|
NM_017617.5(NOTCH1):c.6055G>A (p.Ala2019Thr)
|
|
|
|
NM_017617.5(NOTCH1):c.6063C>T (p.Val2021=)
|
rs1589054533
|
|
|
NM_017617.5(NOTCH1):c.6065A>G (p.Asn2022Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.6072A>T (p.Val2024=)
|
|
|
|
NM_017617.5(NOTCH1):c.6082+11G>A
|
|
|
|
NM_017617.5(NOTCH1):c.6083-16T>G
|
|
|
|
NM_017617.5(NOTCH1):c.608G>A (p.Arg203His)
|
rs182763411
|
|
|
NM_017617.5(NOTCH1):c.6090C>G (p.Ser2030=)
|
|
|
|
NM_017617.5(NOTCH1):c.6094C>T (p.Leu2032=)
|
rs1060504525
|
|
|
NM_017617.5(NOTCH1):c.6096G>A (p.Leu2032=)
|
rs2133321884
|
|
|
NM_017617.5(NOTCH1):c.61+17C>T
|
|
|
|
NM_017617.5(NOTCH1):c.61+18C>A
|
|
|
|
NM_017617.5(NOTCH1):c.61+8C>T
|
|
|
|
NM_017617.5(NOTCH1):c.6111C>A (p.Ala2037=)
|
|
|
|
NM_017617.5(NOTCH1):c.6117C>T (p.Asn2039=)
|
rs2133321780
|
|
|
NM_017617.5(NOTCH1):c.6129C>T (p.Ala2043=)
|
rs563053477
|
|
|
NM_017617.5(NOTCH1):c.6135T>C (p.Val2045=)
|
rs920077656
|
|
|
NM_017617.5(NOTCH1):c.6138G>A (p.Val2046=)
|
|
|
|
NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=)
|
rs1554826678
|
|
|
NM_017617.5(NOTCH1):c.6177C>T (p.Asn2059=)
|
rs992614355
|
|
|
NM_017617.5(NOTCH1):c.6180+11G>T
|
|
|
|
NM_017617.5(NOTCH1):c.6180+13C>A
|
rs1303958303
|
|
|
NM_017617.5(NOTCH1):c.6180+19T>C
|
|
|
|
NM_017617.5(NOTCH1):c.6180+9G>C
|
|
|
|
NM_017617.5(NOTCH1):c.6180+9G>T
|
rs200371378
|
|
|
NM_017617.5(NOTCH1):c.6181-12C>G
|
|
|
|
NM_017617.5(NOTCH1):c.6181-16C>T
|
|
|
|
NM_017617.5(NOTCH1):c.6181-5C>G
|
|
|
|
NM_017617.5(NOTCH1):c.6181-7C>G
|
|
|
|
NM_017617.5(NOTCH1):c.6192C>T (p.Pro2064=)
|
|
|
|
NM_017617.5(NOTCH1):c.6198T>C (p.Phe2066=)
|
|
|
|
NM_017617.5(NOTCH1):c.62-14C>T
|
rs1426366565
|
|
|
NM_017617.5(NOTCH1):c.62-15_62-13del
|
|
|
|
NM_017617.5(NOTCH1):c.62-16T>G
|
rs1164452688
|
|
|
NM_017617.5(NOTCH1):c.62-17C>G
|
|
|
|
NM_017617.5(NOTCH1):c.62-4C>T
|
|
|
|
NM_017617.5(NOTCH1):c.62-5C>A
|
|
|
|
NM_017617.5(NOTCH1):c.6234G>A (p.Lys2078=)
|
rs1485488069
|
|
|
NM_017617.5(NOTCH1):c.6252T>C (p.Phe2084=)
|
|
|
|
NM_017617.5(NOTCH1):c.6291G>T (p.Pro2097=)
|
rs201987555
|
|
|
NM_017617.5(NOTCH1):c.6292C>T (p.Arg2098Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.6300C>T (p.Ile2100=)
|
rs773483690
|
|
|
NM_017617.5(NOTCH1):c.6349A>T (p.Asn2117Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.6362G>A (p.Ser2121Asn)
|
rs761054017
|
|
|
NM_017617.5(NOTCH1):c.6363C>G (p.Ser2121Arg)
|
|
|
|
NM_017617.5(NOTCH1):c.636C>T (p.Gly212=)
|
rs1843397551
|
|
|
NM_017617.5(NOTCH1):c.6387G>T (p.Leu2129=)
|
|
|
|
NM_017617.5(NOTCH1):c.6396G>A (p.Thr2132=)
|
rs554843595
|
|
|
NM_017617.5(NOTCH1):c.6402C>T (p.Thr2134=)
|
rs2133318771
|
|
|
NM_017617.5(NOTCH1):c.6423G>A (p.Ser2141=)
|
|
|
|
NM_017617.5(NOTCH1):c.6423G>T (p.Ser2141=)
|
|
|
|
NM_017617.5(NOTCH1):c.6450G>T (p.Lys2150Asn)
|
|
|
|
NM_017617.5(NOTCH1):c.6466A>G (p.Lys2156Glu)
|
|
|
|
NM_017617.5(NOTCH1):c.6480G>A (p.Lys2160=)
|
|
|
|
NM_017617.5(NOTCH1):c.6495C>T (p.Gly2165=)
|
|
|
|
NM_017617.5(NOTCH1):c.6496C>T (p.Leu2166=)
|
rs2133318278
|
|
|
NM_017617.5(NOTCH1):c.651G>A (p.Arg217=)
|
|
|
|
NM_017617.5(NOTCH1):c.6532G>A (p.Ala2178Thr)
|
rs1197184303
|
|
|
NM_017617.5(NOTCH1):c.6536G>A (p.Arg2179Gln)
|
rs587778571
|
|
|
NM_017617.5(NOTCH1):c.6556G>A (p.Gly2186Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.6567C>T (p.Cys2189=)
|
|
|
|
NM_017617.5(NOTCH1):c.6570G>C (p.Leu2190=)
|
rs200630233
|
|
|
NM_017617.5(NOTCH1):c.657C>T (p.Tyr219=)
|
rs772778125
|
|
|
NM_017617.5(NOTCH1):c.6594G>T (p.Ser2198=)
|
rs774256366
|
|
|
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=)
|
rs374640663
|
|
|
NM_017617.5(NOTCH1):c.6597C>T (p.Pro2199=)
|
rs374640663
|
|
|
NM_017617.5(NOTCH1):c.6612G>A (p.Glu2204=)
|
|
|
|
NM_017617.5(NOTCH1):c.6630G>A (p.Leu2210=)
|
rs1589053186
|
|
|
NM_017617.5(NOTCH1):c.6639G>A (p.Val2213=)
|
|
|
|
NM_017617.5(NOTCH1):c.6647C>T (p.Pro2216Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.6651A>C (p.Pro2217=)
|
|
|
|
NM_017617.5(NOTCH1):c.6666G>A (p.Pro2222=)
|
rs202229687
|
|
|
NM_017617.5(NOTCH1):c.6666G>C (p.Pro2222=)
|
rs202229687
|
|
|
NM_017617.5(NOTCH1):c.6684C>T (p.Ser2228=)
|
|
|
|
NM_017617.5(NOTCH1):c.669C>T (p.Ser223=)
|
rs1589071892
|
|
|
NM_017617.5(NOTCH1):c.66G>C (p.Pro22=)
|
|
|
|
NM_017617.5(NOTCH1):c.6700C>T (p.Leu2234=)
|
|
|
|
NM_017617.5(NOTCH1):c.6724C>T (p.Leu2242=)
|
rs1589053091
|
|
|
NM_017617.5(NOTCH1):c.6732C>A (p.Ile2244=)
|
|
|
|
NM_017617.5(NOTCH1):c.6739C>T (p.Leu2247=)
|
rs377165086
|
|
|
NM_017617.5(NOTCH1):c.6753C>G (p.Ala2251=)
|
rs542875894
|
|
|
NM_017617.5(NOTCH1):c.6759C>G (p.Pro2253=)
|
rs770738954
|
|
|
NM_017617.5(NOTCH1):c.6771G>C (p.Ala2257=)
|
|
|
|
NM_017617.5(NOTCH1):c.6773T>C (p.Leu2258Pro)
|
|
|
|
NM_017617.5(NOTCH1):c.6819C>T (p.Leu2273=)
|
rs778759745
|
|
|
NM_017617.5(NOTCH1):c.6852C>A (p.Thr2284=)
|
|
|
|
NM_017617.5(NOTCH1):c.6879C>T (p.Ala2293=)
|
rs1015422139
|
|
|
NM_017617.5(NOTCH1):c.6880C>T (p.Leu2294=)
|
|
|
|
NM_017617.5(NOTCH1):c.6894G>A (p.Val2298=)
|
|
|
|
NM_017617.5(NOTCH1):c.6903C>T (p.Ser2301=)
|
rs1842923327
|
|
|
NM_017617.5(NOTCH1):c.691G>A (p.Gly231Ser)
|
rs1247729687
|
|
|
NM_017617.5(NOTCH1):c.6924C>T (p.Cys2308=)
|
rs756653663
|
|
|
NM_017617.5(NOTCH1):c.6936C>T (p.Ser2312=)
|
rs1190107678
|
|
|
NM_017617.5(NOTCH1):c.6966A>G (p.Gln2322=)
|
rs1318983291
|
|
|
NM_017617.5(NOTCH1):c.6993A>G (p.Ala2331=)
|
rs1554826428
|
|
|
NM_017617.5(NOTCH1):c.6996A>G (p.Pro2332=)
|
rs2133316587
|
|
|
NM_017617.5(NOTCH1):c.6G>A (p.Pro2=)
|
rs2133408666
|
|
|
NM_017617.5(NOTCH1):c.700C>T (p.Arg234Cys)
|
rs567890045
|
|
|
NM_017617.5(NOTCH1):c.7011A>C (p.Thr2337=)
|
|
|
|
NM_017617.5(NOTCH1):c.7028A>T (p.Gln2343Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.7045C>G (p.Pro2349Ala)
|
rs1390427898
|
|
|
NM_017617.5(NOTCH1):c.705C>T (p.Pro235=)
|
rs905803751
|
|
|
NM_017617.5(NOTCH1):c.7071C>T (p.Ser2357=)
|
rs61751487
|
|
|
NM_017617.5(NOTCH1):c.7080C>T (p.Ser2360=)
|
|
|
|
NM_017617.5(NOTCH1):c.7098G>A (p.Gln2366=)
|
|
|
|
NM_017617.5(NOTCH1):c.7119G>A (p.Leu2373=)
|
|
|
|
NM_017617.5(NOTCH1):c.7135C>T (p.Leu2379=)
|
|
|
|
NM_017617.5(NOTCH1):c.721C>T (p.His241Tyr)
|
|
|
|
NM_017617.5(NOTCH1):c.7230G>A (p.Pro2410=)
|
rs199839390
|
|
|
NM_017617.5(NOTCH1):c.7230G>T (p.Pro2410=)
|
rs199839390
|
|
|
NM_017617.5(NOTCH1):c.7232CAC[4] (p.Pro2415del)
|
rs762336270
|
|
|
NM_017617.5(NOTCH1):c.7251G>T (p.Pro2417=)
|
rs368498380
|
|
|
NM_017617.5(NOTCH1):c.726G>A (p.Glu242=)
|
rs1843394434
|
|
|
NM_017617.5(NOTCH1):c.7312C>T (p.Pro2438Ser)
|
|
|
|
NM_017617.5(NOTCH1):c.7314G>A (p.Pro2438=)
|
|
|
|
NM_017617.5(NOTCH1):c.736C>T (p.Leu246=)
|
|
|
|
NM_017617.5(NOTCH1):c.7377G>A (p.Gln2459=)
|
|
|
|
NM_017617.5(NOTCH1):c.7382G>T (p.Ser2461Ile)
|
rs750245108
|
|
|
NM_017617.5(NOTCH1):c.7389C>T (p.Ala2463=)
|
|
|
|
NM_017617.5(NOTCH1):c.7407A>G (p.Pro2469=)
|
|
|
|
NM_017617.5(NOTCH1):c.7416G>T (p.Leu2472=)
|
|
|
|
NM_017617.5(NOTCH1):c.742+12C>A
|
|
|
|
NM_017617.5(NOTCH1):c.742+12_742+19del
|
|
|
|
NM_017617.5(NOTCH1):c.742+13G>A
|
|
|
|
NM_017617.5(NOTCH1):c.742+15T>C
|
|
|
|
NM_017617.5(NOTCH1):c.743-10C>T
|
|
|
|
NM_017617.5(NOTCH1):c.743-12C>G
|
|
|
|
NM_017617.5(NOTCH1):c.743-19C>T
|
|
|
|
NM_017617.5(NOTCH1):c.7455C>G (p.Pro2485=)
|
|
|
|
NM_017617.5(NOTCH1):c.7461G>A (p.Gln2487=)
|
rs1248949192
|
|
|
NM_017617.5(NOTCH1):c.7475C>T (p.Ser2492Leu)
|
|
|
|
NM_017617.5(NOTCH1):c.747C>T (p.Phe249=)
|
rs2133372901
|
|
|
NM_017617.5(NOTCH1):c.7506A>G (p.Leu2502=)
|
|
|
|
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=)
|
rs375772590
|
|
|
NM_017617.5(NOTCH1):c.750C>T (p.Thr250=)
|
rs375772590
|
|
|
NM_017617.5(NOTCH1):c.7569G>C (p.Ser2523=)
|
rs534623042
|
|
|
NM_017617.5(NOTCH1):c.7575G>A (p.Pro2525=)
|
rs375576856
|
|
|
NM_017617.5(NOTCH1):c.7575G>C (p.Pro2525=)
|
rs375576856
|
|
|
NM_017617.5(NOTCH1):c.7599C>T (p.Ser2533=)
|
|
|
|
NM_017617.5(NOTCH1):c.7614C>T (p.Ser2538=)
|
|
|
|
NM_017617.5(NOTCH1):c.7641C>A (p.Ile2547=)
|
rs370124241
|
|
|
NM_017617.5(NOTCH1):c.774C>T (p.Ile258=)
|
rs764542894
|
|
|
NM_017617.5(NOTCH1):c.788G>A (p.Gly263Glu)
|
|
|
|
NM_017617.5(NOTCH1):c.792C>T (p.Asn264=)
|
rs776687224
|
|
|
NM_017617.5(NOTCH1):c.81C>T (p.Pro27=)
|
|
|
|
NM_017617.5(NOTCH1):c.844C>T (p.Arg282Cys)
|
|
|
|
NM_017617.5(NOTCH1):c.865+18C>A
|
|
|
|
NM_017617.5(NOTCH1):c.865+8T>C
|
|
|
|
NM_017617.5(NOTCH1):c.866-16C>G
|
|
|
|
NM_017617.5(NOTCH1):c.866-9T>C
|
rs2133371738
|
|
|
NM_017617.5(NOTCH1):c.901C>T (p.Leu301=)
|
rs1564200379
|
|
|
NM_017617.5(NOTCH1):c.912T>C (p.Asn304=)
|
rs1060504522
|
|
|
NM_018062.4(FANCL):c.1005A>G (p.Gln335=)
|
rs1158938280
|
|
|
NM_018062.4(FANCL):c.1014A>G (p.Leu338=)
|
|
|
|
NM_018062.4(FANCL):c.1017T>C (p.Tyr339=)
|
|
|
|
NM_018062.4(FANCL):c.1020+14A>G
|
|
|
|
NM_018062.4(FANCL):c.1020+17T>C
|
|
|
|
NM_018062.4(FANCL):c.1020+18T>C
|
|
|
|
NM_018062.4(FANCL):c.1020+20T>G
|
|
|
|
NM_018062.4(FANCL):c.1020+9_1020+11del
|
|
|
|
NM_018062.4(FANCL):c.1021-16C>G
|
|
|
|
NM_018062.4(FANCL):c.1021-18A>C
|
|
|
|
NM_018062.4(FANCL):c.1021-18_1021-14dup
|
|
|
|
NM_018062.4(FANCL):c.1021-18_1021-15dup
|
|
|
|
NM_018062.4(FANCL):c.1021-22_1021-20del
|
|
|
|
NM_018062.4(FANCL):c.1021-23_1021-15del
|
|
|
|
NM_018062.4(FANCL):c.1021-7T>C
|
|
|
|
NM_018062.4(FANCL):c.102A>G (p.Arg34=)
|
rs759217429
|
|
|
NM_018062.4(FANCL):c.105C>T (p.Asp35=)
|
|
|
|
NM_018062.4(FANCL):c.1080A>G (p.Pro360=)
|
|
|
|
NM_018062.4(FANCL):c.1092+14T>G
|
|
|
|
NM_018062.4(FANCL):c.1092+15A>G
|
|
|
|
NM_018062.4(FANCL):c.1092+17T>C
|
|
|
|
NM_018062.4(FANCL):c.1092+18C>G
|
|
|
|
NM_018062.4(FANCL):c.1093-10C>A
|
|
|
|
NM_018062.4(FANCL):c.1093-10_1093-8del
|
|
|
|
NM_018062.4(FANCL):c.1093-11T>A
|
|
|
|
NM_018062.4(FANCL):c.1093-12C>G
|
|
|
|
NM_018062.4(FANCL):c.1093-13T>C
|
|
|
|
NM_018062.4(FANCL):c.1093-15G>A
|
|
|
|
NM_018062.4(FANCL):c.1093-15G>T
|
rs767450055
|
|
|
NM_018062.4(FANCL):c.1093-17A>T
|
|
|
|
NM_018062.4(FANCL):c.1093-18T>G
|
|
|
|
NM_018062.4(FANCL):c.129T>C (p.Pro43=)
|
|
|
|
NM_018062.4(FANCL):c.12G>C (p.Thr4=)
|
|
|
|
NM_018062.4(FANCL):c.138A>G (p.Leu46=)
|
|
|
|
NM_018062.4(FANCL):c.141A>G (p.Gln47=)
|
|
|
|
NM_018062.4(FANCL):c.147G>A (p.Lys49=)
|
|
|
|
NM_018062.4(FANCL):c.150T>C (p.Asn50=)
|
|
|
|
NM_018062.4(FANCL):c.153A>G (p.Ala51=)
|
rs2103919517
|
|
|
NM_018062.4(FANCL):c.155+18T>A
|
rs1573820307
|
|
|
NM_018062.4(FANCL):c.155+19A>T
|
|
|
|
NM_018062.4(FANCL):c.155+8G>A
|
|
|
|
NM_018062.4(FANCL):c.156-11T>A
|
|
|
|
NM_018062.4(FANCL):c.156-11T>C
|
|
|
|
NM_018062.4(FANCL):c.156-12T>C
|
|
|
|
NM_018062.4(FANCL):c.156-13A>C
|
|
|
|
NM_018062.4(FANCL):c.156-13A>T
|
|
|
|
NM_018062.4(FANCL):c.156-14C>T
|
|
|
|
NM_018062.4(FANCL):c.156-15T>C
|
rs2103886212
|
|
|
NM_018062.4(FANCL):c.156-16C>T
|
|
|
|
NM_018062.4(FANCL):c.156-8A>C
|
rs878855045
|
|
|
NM_018062.4(FANCL):c.202C>A (p.Arg68=)
|
|
|
|
NM_018062.4(FANCL):c.210A>G (p.Val70=)
|
|
|
|
NM_018062.4(FANCL):c.213A>G (p.Gln71=)
|
|
|
|
NM_018062.4(FANCL):c.216+14A>G
|
|
|
|
NM_018062.4(FANCL):c.216+17A>G
|
|
|
|
NM_018062.4(FANCL):c.216+7C>G
|
|
|
|
NM_018062.4(FANCL):c.216+8C>G
|
|
|
|
NM_018062.4(FANCL):c.216+9T>C
|
|
|
|
NM_018062.4(FANCL):c.234T>C (p.Pro78=)
|
|
|
|
NM_018062.4(FANCL):c.240A>C (p.Leu80=)
|
|
|
|
NM_018062.4(FANCL):c.24G>A (p.Leu8=)
|
|
|
|
NM_018062.4(FANCL):c.24G>T (p.Leu8=)
|
|
|
|
NM_018062.4(FANCL):c.273+7A>T
|
|
|
|
NM_018062.4(FANCL):c.273+7dup
|
|
|
|
NM_018062.4(FANCL):c.274-11_274-9del
|
rs766344718
|
|
|
NM_018062.4(FANCL):c.274-14C>G
|
|
|
|
NM_018062.4(FANCL):c.274-19G>A
|
|
|
|
NM_018062.4(FANCL):c.276A>G (p.Glu92=)
|
|
|
|
NM_018062.4(FANCL):c.27G>A (p.Leu9=)
|
|
|
|
NM_018062.4(FANCL):c.282C>T (p.Ala94=)
|
|
|
|
NM_018062.4(FANCL):c.291T>C (p.Asn97=)
|
|
|
|
NM_018062.4(FANCL):c.309A>G (p.Ala103=)
|
|
|
|
NM_018062.4(FANCL):c.30C>T (p.Arg10=)
|
|
|
|
NM_018062.4(FANCL):c.310C>T (p.Leu104=)
|
rs1225517747
|
|
|
NM_018062.4(FANCL):c.312A>G (p.Leu104=)
|
|
|
|
NM_018062.4(FANCL):c.318T>C (p.Pro106=)
|
|
|
|
NM_018062.4(FANCL):c.324C>G (p.Pro108=)
|
|
|
|
NM_018062.4(FANCL):c.330C>T (p.Phe110=)
|
|
|
|
NM_018062.4(FANCL):c.333C>T (p.Tyr111=)
|
|
|
|
NM_018062.4(FANCL):c.336A>G (p.Ser112=)
|
|
|
|
NM_018062.4(FANCL):c.345T>A (p.Ile115=)
|
|
|
|
NM_018062.4(FANCL):c.363T>C (p.Leu121=)
|
|
|
|
NM_018062.4(FANCL):c.374+13T>G
|
|
|
|
NM_018062.4(FANCL):c.374+16_374+20del
|
|
|
|
NM_018062.4(FANCL):c.374+19_374+20del
|
rs1692517175
|
|
|
NM_018062.4(FANCL):c.374+20T>A
|
|
|
|
NM_018062.4(FANCL):c.374+7C>T
|
|
|
|
NM_018062.4(FANCL):c.375-11C>T
|
|
|
|
NM_018062.4(FANCL):c.375-13_375-11del
|
rs759671554
|
|
|
NM_018062.4(FANCL):c.375-14C>T
|
|
|
|
NM_018062.4(FANCL):c.375-16C>T
|
|
|
|
NM_018062.4(FANCL):c.375-17T>G
|
|
|
|
NM_018062.4(FANCL):c.375-19A>C
|
|
|
|
NM_018062.4(FANCL):c.375-2033C>T
|
|
|
|
NM_018062.4(FANCL):c.375-20T>A
|
|
|
|
NM_018062.4(FANCL):c.375-5A>T
|
rs2105148555
|
|
|
NM_018062.4(FANCL):c.378T>A (p.Leu126=)
|
rs746200741
|
|
|
NM_018062.4(FANCL):c.384T>C (p.Tyr128=)
|
rs1245585990
|
|
|
NM_018062.4(FANCL):c.390T>C (p.Asp130=)
|
|
|
|
NM_018062.4(FANCL):c.39C>A (p.Pro13=)
|
rs201708705
|
|
|
NM_018062.4(FANCL):c.39C>G (p.Pro13=)
|
rs201708705
|
|
|
NM_018062.4(FANCL):c.405C>G (p.Thr135=)
|
|
|
|
NM_018062.4(FANCL):c.417A>G (p.Lys139=)
|
rs1690337979
|
|
|
NM_018062.4(FANCL):c.420A>G (p.Ala140=)
|
rs1573699668
|
|
|
NM_018062.4(FANCL):c.429T>C (p.Ala143=)
|
|
|
|
NM_018062.4(FANCL):c.435T>G (p.Gly145=)
|
rs2105147481
|
|
|
NM_018062.4(FANCL):c.450C>A (p.Ile150=)
|
|
|
|
NM_018062.4(FANCL):c.456C>G (p.Leu152=)
|
|
|
|
NM_018062.4(FANCL):c.46C>T (p.Leu16=)
|
|
|
|
NM_018062.4(FANCL):c.471+13T>C
|
|
|
|
NM_018062.4(FANCL):c.472-11T>C
|
|
|
|
NM_018062.4(FANCL):c.472-14T>C
|
rs371196539
|
|
|
NM_018062.4(FANCL):c.472-15A>G
|
rs374750427
|
|
|
NM_018062.4(FANCL):c.472-15A>T
|
rs374750427
|
|
|
NM_018062.4(FANCL):c.472-18G>A
|
|
|
|
NM_018062.4(FANCL):c.472-5A>G
|
|
|
|
NM_018062.4(FANCL):c.480A>G (p.Ala160=)
|
|
|
|
NM_018062.4(FANCL):c.507T>C (p.Phe169=)
|
rs1423808735
|
|
|
NM_018062.4(FANCL):c.513T>C (p.Val171=)
|
|
|
|
NM_018062.4(FANCL):c.51C>G (p.Pro17=)
|
rs772700022
|
|
|
NM_018062.4(FANCL):c.51C>T (p.Pro17=)
|
|
|
|
NM_018062.4(FANCL):c.528C>G (p.Ser176=)
|
|
|
|
NM_018062.4(FANCL):c.528C>T (p.Ser176=)
|
rs764969578
|
|
|
NM_018062.4(FANCL):c.540+10_540+24del
|
rs770182004
|
|
|
NM_018062.4(FANCL):c.540+13C>T
|
rs1442784677
|
|
|
NM_018062.4(FANCL):c.540+16G>T
|
|
|
|
NM_018062.4(FANCL):c.540+18A>G
|
|
|
|
NM_018062.4(FANCL):c.541-10T>G
|
|
|
|
NM_018062.4(FANCL):c.541-11T>A
|
rs1458588728
|
|
|
NM_018062.4(FANCL):c.541-14C>A
|
rs765321485
|
|
|
NM_018062.4(FANCL):c.541-14C>T
|
|
|
|
NM_018062.4(FANCL):c.541-15T>C
|
rs1685890518
|
|
|
NM_018062.4(FANCL):c.541-15T>G
|
|
|
|
NM_018062.4(FANCL):c.541-18C>G
|
|
|
|
NM_018062.4(FANCL):c.541-4A>G
|
|
|
|
NM_018062.4(FANCL):c.541-5C>T
|
|
|
|
NM_018062.4(FANCL):c.541-5del
|
rs1293206231
|
|
|
NM_018062.4(FANCL):c.543C>T (p.Ser181=)
|
|
|
|
NM_018062.4(FANCL):c.561T>C (p.Tyr187=)
|
rs1185627493
|
|
|
NM_018062.4(FANCL):c.57C>T (p.Asn19=)
|
|
|
|
NM_018062.4(FANCL):c.591A>G (p.Leu197=)
|
rs1320380833
|
|
|
NM_018062.4(FANCL):c.60G>A (p.Arg20=)
|
|
|
|
NM_018062.4(FANCL):c.642T>C (p.Leu214=)
|
|
|
|
NM_018062.4(FANCL):c.654A>G (p.Lys218=)
|
|
|
|
NM_018062.4(FANCL):c.663G>C (p.Arg221=)
|
|
|
|
NM_018062.4(FANCL):c.663G>T (p.Arg221=)
|
|
|
|
NM_018062.4(FANCL):c.666T>C (p.Ser222=)
|
|
|
|
NM_018062.4(FANCL):c.691+8C>T
|
rs1327876704
|
|
|
NM_018062.4(FANCL):c.691+9A>G
|
|
|
|
NM_018062.4(FANCL):c.692-11T>C
|
|
|
|
NM_018062.4(FANCL):c.692-15C>A
|
|
|
|
NM_018062.4(FANCL):c.692-15C>G
|
rs370449029
|
|
|
NM_018062.4(FANCL):c.692-18A>C
|
|
|
|
NM_018062.4(FANCL):c.692-4C>A
|
|
|
|
NM_018062.4(FANCL):c.692-4C>G
|
|
|
|
NM_018062.4(FANCL):c.692-6T>C
|
rs1685523497
|
|
|
NM_018062.4(FANCL):c.693T>C (p.Gly231=)
|
|
|
|
NM_018062.4(FANCL):c.693T>G (p.Gly231=)
|
rs864622189
|
|
|
NM_018062.4(FANCL):c.699T>C (p.Asn233=)
|
|
|
|
NM_018062.4(FANCL):c.702T>C (p.Val234=)
|
|
|
|
NM_018062.4(FANCL):c.705C>T (p.Ser235=)
|
rs1553435677
|
|
|
NM_018062.4(FANCL):c.726C>A (p.Pro242=)
|
|
|
|
NM_018062.4(FANCL):c.727A>C (p.Arg243=)
|
rs941555289
|
|
|
NM_018062.4(FANCL):c.75T>C (p.Tyr25=)
|
|
|
|
NM_018062.4(FANCL):c.768T>C (p.Ala256=)
|
|
|
|
NM_018062.4(FANCL):c.775+10C>T
|
|
|
|
NM_018062.4(FANCL):c.775+11T>G
|
|
|
|
NM_018062.4(FANCL):c.776-8A>T
|
rs753745302
|
|
|
NM_018062.4(FANCL):c.776-8dup
|
|
|
|
NM_018062.4(FANCL):c.776-9A>T
|
rs1685446346
|
|
|
NM_018062.4(FANCL):c.786C>T (p.Pro262=)
|
|
|
|
NM_018062.4(FANCL):c.819G>A (p.Leu273=)
|
|
|
|
NM_018062.4(FANCL):c.81A>C (p.Gly27=)
|
rs1553459821
|
|
|
NM_018062.4(FANCL):c.822-12C>T
|
|
|
|
NM_018062.4(FANCL):c.822-13C>G
|
|
|
|
NM_018062.4(FANCL):c.822-4T>G
|
rs2104795280
|
|
|
NM_018062.4(FANCL):c.834T>C (p.Asn278=)
|
|
|
|
NM_018062.4(FANCL):c.846A>T (p.Gln282His)
|
rs535158133
|
|
|
NM_018062.4(FANCL):c.858T>C (p.Asp286=)
|
|
|
|
NM_018062.4(FANCL):c.873T>C (p.Asp291=)
|
rs773117904
|
|
|
NM_018062.4(FANCL):c.903+12C>T
|
|
|
|
NM_018062.4(FANCL):c.903+14G>A
|
|
|
|
NM_018062.4(FANCL):c.903+14G>T
|
|
|
|
NM_018062.4(FANCL):c.903+16_903+17del
|
|
|
|
NM_018062.4(FANCL):c.903+17T>A
|
|
|
|
NM_018062.4(FANCL):c.904-14T>C
|
|
|
|
NM_018062.4(FANCL):c.904-18_904-15del
|
|
|
|
NM_018062.4(FANCL):c.904-19A>G
|
|
|
|
NM_018062.4(FANCL):c.904-20T>A
|
|
|
|
NM_018062.4(FANCL):c.904-4G>C
|
|
|
|
NM_018062.4(FANCL):c.904-4G>T
|
rs757211531
|
|
|
NM_018062.4(FANCL):c.904-7T>G
|
rs2104783967
|
|
|
NM_018062.4(FANCL):c.904-8T>G
|
rs2104784017
|
|
|
NM_018062.4(FANCL):c.90G>T (p.Ser30=)
|
|
|
|
NM_018062.4(FANCL):c.921T>C (p.Cys307=)
|
rs959857056
|
|
|
NM_018062.4(FANCL):c.924A>T (p.Gly308=)
|
|
|
|
NM_018062.4(FANCL):c.933T>C (p.Tyr311=)
|
|
|
|
NM_018062.4(FANCL):c.936T>G (p.Ala312=)
|
|
|
|
NM_018062.4(FANCL):c.951T>G (p.Gly317=)
|
|
|
|
NM_018062.4(FANCL):c.954C>T (p.Thr318=)
|
|
|
|
NM_018062.4(FANCL):c.96+11A>G
|
|
|
|
NM_018062.4(FANCL):c.96+12G>A
|
|
|
|
NM_018062.4(FANCL):c.96+12G>C
|
|
|
|
NM_018062.4(FANCL):c.96+14G>A
|
|
|
|
NM_018062.4(FANCL):c.96+14_96+15inv
|
|
|
|
NM_018062.4(FANCL):c.96+15G>A
|
|
|
|
NM_018062.4(FANCL):c.96+18G>A
|
|
|
|
NM_018062.4(FANCL):c.96+8C>G
|
|
|
|
NM_018062.4(FANCL):c.96+8C>T
|
|
|
|
NM_018062.4(FANCL):c.97-13A>T
|
|
|
|
NM_018062.4(FANCL):c.97-14A>C
|
|
|
|
NM_018062.4(FANCL):c.97-14A>G
|
|
|
|
NM_018062.4(FANCL):c.97-15C>T
|
rs2103921401
|
|
|
NM_018062.4(FANCL):c.97-15_97-11del
|
|
|
|
NM_018062.4(FANCL):c.97-20C>G
|
|
|
|
NM_018062.4(FANCL):c.97-4A>T
|
rs2103921076
|
|
|
NM_018062.4(FANCL):c.97-7T>C
|
|
|
|
NM_018486.3(HDAC8):c.1053C>T (p.Ser351=)
|
|
|
|
NM_018486.3(HDAC8):c.1058G>A (p.Arg353Gln)
|
|
|
|
NM_018486.3(HDAC8):c.1066C>T (p.Arg356Cys)
|
|
|
|
NM_018486.3(HDAC8):c.1068C>A (p.Arg356=)
|
|
|
|
NM_018486.3(HDAC8):c.1104C>T (p.Tyr368=)
|
|
|
|
NM_018486.3(HDAC8):c.1105A>G (p.Ile369Val)
|
|
|
|
NM_018486.3(HDAC8):c.111+10G>A
|
|
|
|
NM_018486.3(HDAC8):c.111+14G>C
|
rs2147618204
|
|
|
NM_018486.3(HDAC8):c.111+20A>G
|
|
|
|
NM_018486.3(HDAC8):c.111+7G>A
|
rs2147618283
|
|
|
NM_018486.3(HDAC8):c.1111+13C>T
|
|
|
|
NM_018486.3(HDAC8):c.1111+17del
|
|
|
|
NM_018486.3(HDAC8):c.1112-10_1112-9del
|
|
|
|
NM_018486.3(HDAC8):c.1112-11C>G
|
|
|
|
NM_018486.3(HDAC8):c.1112-5T>G
|
|
|
|
NM_018486.3(HDAC8):c.112-11G>T
|
|
|
|
NM_018486.3(HDAC8):c.112-14G>A
|
|
|
|
NM_018486.3(HDAC8):c.141A>T (p.Ala47=)
|
|
|
|
NM_018486.3(HDAC8):c.164+9T>C
|
|
|
|
NM_018486.3(HDAC8):c.165-11G>A
|
|
|
|
NM_018486.3(HDAC8):c.21G>C (p.Pro7=)
|
rs1603246257
|
|
|
NM_018486.3(HDAC8):c.225T>C (p.Tyr75=)
|
|
|
|
NM_018486.3(HDAC8):c.296-13T>C
|
|
|
|
NM_018486.3(HDAC8):c.296-6C>T
|
|
|
|
NM_018486.3(HDAC8):c.306C>T (p.Cys102=)
|
|
|
|
NM_018486.3(HDAC8):c.330C>T (p.Asp110=)
|
rs2051865907
|
|
|
NM_018486.3(HDAC8):c.381T>A (p.Ile127=)
|
|
|
|
NM_018486.3(HDAC8):c.437+13C>G
|
|
|
|
NM_018486.3(HDAC8):c.437+16_437+19del
|
|
|
|
NM_018486.3(HDAC8):c.477C>T (p.Val159=)
|
|
|
|
NM_018486.3(HDAC8):c.487T>C (p.Leu163=)
|
|
|
|
NM_018486.3(HDAC8):c.491G>T (p.Arg164Leu)
|
|
|
|
NM_018486.3(HDAC8):c.499C>T (p.Arg167Trp)
|
|
|
|
NM_018486.3(HDAC8):c.510G>A (p.Glu170=)
|
|
|
|
NM_018486.3(HDAC8):c.525G>A (p.Val175=)
|
|
|
|
NM_018486.3(HDAC8):c.550+7C>T
|
|
|
|
NM_018486.3(HDAC8):c.550+9T>G
|
|
|
|
NM_018486.3(HDAC8):c.551-17G>A
|
|
|
|
NM_018486.3(HDAC8):c.558A>G (p.Glu186=)
|
rs2148131646
|
|
|
NM_018486.3(HDAC8):c.603C>T (p.His201=)
|
|
|
|
NM_018486.3(HDAC8):c.615A>G (p.Pro205=)
|
|
|
|
NM_018486.3(HDAC8):c.628+20G>A
|
rs2148131378
|
|
|
NM_018486.3(HDAC8):c.628+7G>A
|
|
|
|
NM_018486.3(HDAC8):c.629-11C>G
|
|
|
|
NM_018486.3(HDAC8):c.629-16C>T
|
|
|
|
NM_018486.3(HDAC8):c.629-18T>C
|
|
|
|
NM_018486.3(HDAC8):c.657A>C (p.Leu219=)
|
|
|
|
NM_018486.3(HDAC8):c.666A>G (p.Gly222=)
|
|
|
|
NM_018486.3(HDAC8):c.66C>G (p.Pro22=)
|
|
|
|
NM_018486.3(HDAC8):c.66C>T (p.Pro22=)
|
|
|
|
NM_018486.3(HDAC8):c.737+16_737+28del
|
|
|
|
NM_018486.3(HDAC8):c.738-17del
|
|
|
|
NM_018486.3(HDAC8):c.738-4A>G
|
rs782294776
|
|
|
NM_018486.3(HDAC8):c.747G>A (p.Lys249=)
|
|
|
|
NM_018486.3(HDAC8):c.767A>T (p.Asn256Ile)
|
|
|
|
NM_018486.3(HDAC8):c.828C>T (p.Ser276=)
|
|
|
|
NM_018486.3(HDAC8):c.894A>G (p.Thr298=)
|
|
|
|
NM_018486.3(HDAC8):c.910+20A>G
|
rs2148045760
|
|
|
NM_018486.3(HDAC8):c.911-13T>C
|
|
|
|
NM_018486.3(HDAC8):c.927C>T (p.Ala309=)
|
|
|
|
NM_018486.3(HDAC8):c.930C>T (p.Asn310=)
|
|
|
|
NM_018486.3(HDAC8):c.951C>T (p.Tyr317=)
|
rs1555991936
|
|
|
NM_018486.3(HDAC8):c.957C>T (p.Thr319=)
|
rs782144834
|
|
|
NM_020436.5(SALL4):c.1018G>A (p.Gly340Ser)
|
|
|
|
NM_020436.5(SALL4):c.1092G>A (p.Pro364=)
|
|
|
|
NM_020436.5(SALL4):c.1107G>A (p.Val369=)
|
|
|
|
NM_020436.5(SALL4):c.1125C>T (p.Asp375=)
|
|
|
|
NM_020436.5(SALL4):c.1209C>T (p.Ser403=)
|
|
|
|
NM_020436.5(SALL4):c.1314C>T (p.Asn438=)
|
|
|
|
NM_020436.5(SALL4):c.1476G>C (p.Gly492=)
|
rs1428240079
|
|
|
NM_020436.5(SALL4):c.1504T>C (p.Ser502Pro)
|
|
|
|
NM_020436.5(SALL4):c.159C>T (p.Asp53=)
|
|
|
|
NM_020436.5(SALL4):c.1660T>C (p.Leu554=)
|
|
|
|
NM_020436.5(SALL4):c.1671C>T (p.Asn557=)
|
|
|
|
NM_020436.5(SALL4):c.1698C>T (p.Asn566=)
|
|
|
|
NM_020436.5(SALL4):c.1770G>A (p.Gly590=)
|
|
|
|
NM_020436.5(SALL4):c.1851A>G (p.Arg617=)
|
|
|
|
NM_020436.5(SALL4):c.213G>A (p.Thr71=)
|
|
|
|
NM_020436.5(SALL4):c.2151G>A (p.Ser717=)
|
|
|
|
NM_020436.5(SALL4):c.2163G>A (p.Thr721=)
|
|
|
|
NM_020436.5(SALL4):c.2253C>T (p.Asn751=)
|
|
|
|
NM_020436.5(SALL4):c.2352C>A (p.Ser784=)
|
|
|
|
NM_020436.5(SALL4):c.2373C>T (p.Ala791=)
|
|
|
|
NM_020436.5(SALL4):c.2462-13C>T
|
rs778354482
|
|
|
NM_020436.5(SALL4):c.2496C>T (p.Ala832=)
|
|
|
|
NM_020436.5(SALL4):c.2640G>A (p.Ser880=)
|
rs17802735
|
|
|
NM_020436.5(SALL4):c.2673T>C (p.Thr891=)
|
rs779929335
|
|
|
NM_020436.5(SALL4):c.2743-5C>T
|
|
|
|
NM_020436.5(SALL4):c.2872C>T (p.Leu958=)
|
|
|
|
NM_020436.5(SALL4):c.2977G>A (p.Gly993Arg)
|
rs138891224
|
|
|
NM_020436.5(SALL4):c.2982G>T (p.Gly994=)
|
|
|
|
NM_020436.5(SALL4):c.3030C>T (p.Asn1010=)
|
|
|
|
NM_020436.5(SALL4):c.3062C>T (p.Ser1021Leu)
|
|
|
|
NM_020436.5(SALL4):c.33C>T (p.His11=)
|
|
|
|
NM_020436.5(SALL4):c.39C>T (p.Asn13=)
|
|
|
|
NM_020436.5(SALL4):c.411C>G (p.Gly137=)
|
rs201560082
|
|
|
NM_020436.5(SALL4):c.432G>A (p.Lys144=)
|
|
|
|
NM_020436.5(SALL4):c.477A>G (p.Thr159=)
|
|
|
|
NM_020436.5(SALL4):c.531C>T (p.Ala177=)
|
|
|
|
NM_020436.5(SALL4):c.573G>A (p.Val191=)
|
|
|
|
NM_020436.5(SALL4):c.588G>A (p.Arg196=)
|
|
|
|
NM_020436.5(SALL4):c.789C>T (p.His263=)
|
|
|
|
NM_020436.5(SALL4):c.888C>T (p.His296=)
|
|
|
|
NM_020436.5(SALL4):c.891C>T (p.Ala297=)
|
|
|
|
NM_020436.5(SALL4):c.9G>A (p.Arg3=)
|
|
|
|
NM_020937.4(FANCM):c.1051-18C>T
|
rs1312919356
|
|
|
NM_020937.4(FANCM):c.1051-19A>G
|
rs2139168541
|
|
|
NM_020937.4(FANCM):c.1051-8T>C
|
|
|
|
NM_020937.4(FANCM):c.1077A>G (p.Gly359=)
|
rs2139168714
|
|
|
NM_020937.4(FANCM):c.1098T>C (p.Ser366=)
|
rs747666389
|
|
|
NM_020937.4(FANCM):c.1120T>C (p.Leu374=)
|
|
|
|
NM_020937.4(FANCM):c.1134A>G (p.Gly378=)
|
rs776630034
|
|
|
NM_020937.4(FANCM):c.114C>T (p.Ser38=)
|
rs761652077
|
|
|
NM_020937.4(FANCM):c.1176A>C (p.Gly392=)
|
rs2139169125
|
|
|
NM_020937.4(FANCM):c.1183+10A>G
|
|
|
|
NM_020937.4(FANCM):c.1183+15A>T
|
rs1264043591
|
|
|
NM_020937.4(FANCM):c.1183+8A>T
|
|
|
|
NM_020937.4(FANCM):c.1183+9T>C
|
rs1009322588
|
|
|
NM_020937.4(FANCM):c.1184-14C>A
|
|
|
|
NM_020937.4(FANCM):c.1184-14C>G
|
|
|
|
NM_020937.4(FANCM):c.1184-15T>A
|
rs2139171197
|
|
|
NM_020937.4(FANCM):c.1184-19C>G
|
|
|
|
NM_020937.4(FANCM):c.1184-19C>T
|
|
|
|
NM_020937.4(FANCM):c.1185G>C (p.Gly395=)
|
rs2139171262
|
|
|
NM_020937.4(FANCM):c.1185G>T (p.Gly395=)
|
|
|
|
NM_020937.4(FANCM):c.1197A>G (p.Ser399=)
|
|
|
|
NM_020937.4(FANCM):c.1200A>G (p.Lys400=)
|
rs905295349
|
|
|
NM_020937.4(FANCM):c.120G>T (p.Ala40=)
|
rs1885476315
|
|
|
NM_020937.4(FANCM):c.1221A>G (p.Glu407=)
|
|
|
|
NM_020937.4(FANCM):c.1236C>G (p.Leu412=)
|
rs1476021559
|
|
|
NM_020937.4(FANCM):c.1242T>C (p.Asn414=)
|
|
|
|
NM_020937.4(FANCM):c.126G>A (p.Leu42=)
|
rs2139100378
|
|
|
NM_020937.4(FANCM):c.1305A>G (p.Gln435=)
|
rs2139171928
|
|
|
NM_020937.4(FANCM):c.1309+10T>G
|
rs374945162
|
|
|
NM_020937.4(FANCM):c.1309+7T>A
|
|
|
|
NM_020937.4(FANCM):c.1310-12G>A
|
|
|
|
NM_020937.4(FANCM):c.1310-12del
|
rs1566738883
|
|
|
NM_020937.4(FANCM):c.1310-13T>C
|
rs749995672
|
|
|
NM_020937.4(FANCM):c.1310-14T>C
|
|
|
|
NM_020937.4(FANCM):c.1310-18A>G
|
rs2139173703
|
|
|
NM_020937.4(FANCM):c.1310-20A>G
|
|
|
|
NM_020937.4(FANCM):c.1310-7G>C
|
rs2139173742
|
|
|
NM_020937.4(FANCM):c.1371A>T (p.Val457=)
|
rs1407346797
|
|
|
NM_020937.4(FANCM):c.1389A>T (p.Ser463=)
|
rs2139174057
|
|
|
NM_020937.4(FANCM):c.1396+9T>A
|
|
|
|
NM_020937.4(FANCM):c.1397-14A>G
|
|
|
|
NM_020937.4(FANCM):c.1397-14A>T
|
rs757351765
|
|
|
NM_020937.4(FANCM):c.1397-8A>G
|
|
|
|
NM_020937.4(FANCM):c.1452A>T (p.Ser484=)
|
rs1594777564
|
|
|
NM_020937.4(FANCM):c.1461T>C (p.Asp487=)
|
|
|
|
NM_020937.4(FANCM):c.147G>A (p.Gln49=)
|
rs1250039443
|
|
|
NM_020937.4(FANCM):c.1503A>C (p.Pro501=)
|
rs2139186592
|
|
|
NM_020937.4(FANCM):c.1521T>G (p.Thr507=)
|
rs1444475815
|
|
|
NM_020937.4(FANCM):c.1536C>G (p.Ala512=)
|
|
|
|
NM_020937.4(FANCM):c.1539A>G (p.Ser513=)
|
rs886050499
|
|
|
NM_020937.4(FANCM):c.1551G>C (p.Thr517=)
|
rs139535827
|
|
|
NM_020937.4(FANCM):c.1563C>A (p.Thr521=)
|
rs775472302
|
|
|
NM_020937.4(FANCM):c.1581+14G>C
|
rs781169191
|
|
|
NM_020937.4(FANCM):c.1581+15A>G
|
rs1199408690
|
|
|
NM_020937.4(FANCM):c.1581+19G>T
|
|
|
|
NM_020937.4(FANCM):c.1581+30_1581+35del
|
|
|
|
NM_020937.4(FANCM):c.1581+7_1581+9del
|
rs1887415979
|
|
|
NM_020937.4(FANCM):c.1582-13G>A
|
|
|
|
NM_020937.4(FANCM):c.1582-16A>C
|
rs201905147
|
|
|
NM_020937.4(FANCM):c.1584A>G (p.Val528=)
|
rs1158678939
|
|
|
NM_020937.4(FANCM):c.1599T>C (p.Arg533=)
|
|
|
|
NM_020937.4(FANCM):c.1617G>A (p.Thr539=)
|
rs779563169
|
|
|
NM_020937.4(FANCM):c.1638T>C (p.Gly546=)
|
|
|
|
NM_020937.4(FANCM):c.1665T>C (p.Val555=)
|
|
|
|
NM_020937.4(FANCM):c.1701A>C (p.Pro567=)
|
rs2139205029
|
|
|
NM_020937.4(FANCM):c.1701A>T (p.Pro567=)
|
|
|
|
NM_020937.4(FANCM):c.1713A>C (p.Val571=)
|
|
|
|
NM_020937.4(FANCM):c.1770T>C (p.Ser590=)
|
rs1266191069
|
|
|
NM_020937.4(FANCM):c.177C>T (p.Val59=)
|
rs2139100946
|
|
|
NM_020937.4(FANCM):c.1782G>A (p.Glu594=)
|
rs141109534
|
|
|
NM_020937.4(FANCM):c.180G>A (p.Ala60=)
|
|
|
|
NM_020937.4(FANCM):c.183G>A (p.Ala61=)
|
|
|
|
NM_020937.4(FANCM):c.1851G>A (p.Gln617=)
|
|
|
|
NM_020937.4(FANCM):c.1866C>T (p.Tyr622=)
|
rs2139214549
|
|
|
NM_020937.4(FANCM):c.1879C>A (p.Arg627=)
|
rs374626826
|
|
|
NM_020937.4(FANCM):c.1911A>G (p.Leu637=)
|
rs2139214829
|
|
|
NM_020937.4(FANCM):c.1932T>C (p.His644=)
|
|
|
|
NM_020937.4(FANCM):c.1944A>G (p.Glu648=)
|
|
|
|
NM_020937.4(FANCM):c.195G>A (p.Glu65=)
|
rs1885485132
|
|
|
NM_020937.4(FANCM):c.1986C>T (p.Ile662=)
|
rs757122378
|
|
|
NM_020937.4(FANCM):c.1992C>A (p.Ser664=)
|
|
|
|
NM_020937.4(FANCM):c.1995T>C (p.Tyr665=)
|
|
|
|
NM_020937.4(FANCM):c.2002+12T>C
|
|
|
|
NM_020937.4(FANCM):c.2002+16A>G
|
rs370879109
|
|
|
NM_020937.4(FANCM):c.2025G>A (p.Lys675=)
|
rs1888275752
|
|
|
NM_020937.4(FANCM):c.202T>C (p.Leu68=)
|
|
|
|
NM_020937.4(FANCM):c.2037C>T (p.Phe679=)
|
rs2139226277
|
|
|
NM_020937.4(FANCM):c.2046A>G (p.Glu682=)
|
rs201216865
|
|
|
NM_020937.4(FANCM):c.2088C>T (p.Asp696=)
|
rs2139226635
|
|
|
NM_020937.4(FANCM):c.2115G>A (p.Leu705=)
|
rs1279241709
|
|
|
NM_020937.4(FANCM):c.2148G>A (p.Glu716=)
|
|
|
|
NM_020937.4(FANCM):c.2160+12A>G
|
rs1888288038
|
|
|
NM_020937.4(FANCM):c.2160+9A>G
|
rs947000515
|
|
|
NM_020937.4(FANCM):c.2161-11A>T
|
|
|
|
NM_020937.4(FANCM):c.2161-4dup
|
rs2139234396
|
|
|
NM_020937.4(FANCM):c.2161-7A>G
|
|
|
|
NM_020937.4(FANCM):c.2169A>G (p.Glu723=)
|
|
|
|
NM_020937.4(FANCM):c.219C>A (p.Gly73=)
|
rs111252426
|
|
|
NM_020937.4(FANCM):c.219C>G (p.Gly73=)
|
|
|
|
NM_020937.4(FANCM):c.2212C>T (p.Leu738=)
|
rs2139234741
|
|
|
NM_020937.4(FANCM):c.2238A>G (p.Thr746=)
|
|
|
|
NM_020937.4(FANCM):c.2262A>T (p.Arg754=)
|
|
|
|
NM_020937.4(FANCM):c.2283T>G (p.Leu761=)
|
|
|
|
NM_020937.4(FANCM):c.2289A>G (p.Gln763=)
|
rs1431945795
|
|
|
NM_020937.4(FANCM):c.228C>T (p.Cys76=)
|
|
|
|
NM_020937.4(FANCM):c.2310C>T (p.His770=)
|
rs566935444
|
|
|
NM_020937.4(FANCM):c.2316+20T>A
|
|
|
|
NM_020937.4(FANCM):c.2317-6T>C
|
|
|
|
NM_020937.4(FANCM):c.2335T>C (p.Leu779=)
|
rs1888576727
|
|
|
NM_020937.4(FANCM):c.2340A>G (p.Glu780=)
|
|
|
|
NM_020937.4(FANCM):c.2373C>T (p.Thr791=)
|
rs2139241090
|
|
|
NM_020937.4(FANCM):c.2379A>G (p.Thr793=)
|
rs781017322
|
|
|
NM_020937.4(FANCM):c.2409T>C (p.Asn803=)
|
rs2139241288
|
|
|
NM_020937.4(FANCM):c.240C>T (p.Gly80=)
|
rs1254073558
|
|
|
NM_020937.4(FANCM):c.2442A>G (p.Lys814=)
|
|
|
|
NM_020937.4(FANCM):c.2460C>T (p.Asn820=)
|
rs199702587
|
|
|
NM_020937.4(FANCM):c.2475T>C (p.Ser825=)
|
|
|
|
NM_020937.4(FANCM):c.2493A>G (p.Glu831=)
|
rs780819683
|
|
|
NM_020937.4(FANCM):c.2529T>C (p.Thr843=)
|
|
|
|
NM_020937.4(FANCM):c.2571G>A (p.Val857=)
|
rs2139242297
|
|
|
NM_020937.4(FANCM):c.2589A>G (p.Lys863=)
|
rs1566762145
|
|
|
NM_020937.4(FANCM):c.2604A>G (p.Lys868=)
|
|
|
|
NM_020937.4(FANCM):c.261C>A (p.Thr87=)
|
|
|
|
NM_020937.4(FANCM):c.267C>T (p.Cys89=)
|
|
|
|
NM_020937.4(FANCM):c.2760G>C (p.Pro920=)
|
rs145506906
|
|
|
NM_020937.4(FANCM):c.2796A>G (p.Lys932=)
|
|
|
|
NM_020937.4(FANCM):c.2805T>C (p.Ser935=)
|
rs1049679142
|
|
|
NM_020937.4(FANCM):c.2817A>C (p.Gly939=)
|
|
|
|
NM_020937.4(FANCM):c.2859A>G (p.Lys953=)
|
rs142864437
|
|
|
NM_020937.4(FANCM):c.2868A>G (p.Ser956=)
|
|
|
|
NM_020937.4(FANCM):c.2877A>G (p.Leu959=)
|
rs2139244524
|
|
|
NM_020937.4(FANCM):c.2925A>G (p.Gln975=)
|
rs1594798411
|
|
|
NM_020937.4(FANCM):c.2958A>C (p.Val986=)
|
rs779452715
|
|
|
NM_020937.4(FANCM):c.2958A>T (p.Val986=)
|
rs779452715
|
|
|
NM_020937.4(FANCM):c.2967T>C (p.Asn989=)
|
|
|
|
NM_020937.4(FANCM):c.2991T>G (p.Ser997=)
|
|
|
|
NM_020937.4(FANCM):c.3012C>A (p.Leu1004=)
|
|
|
|
NM_020937.4(FANCM):c.3063T>A (p.Leu1021=)
|
|
|
|
NM_020937.4(FANCM):c.3066C>T (p.Phe1022=)
|
rs1444147003
|
|
|
NM_020937.4(FANCM):c.306T>C (p.Ala102=)
|
|
|
|
NM_020937.4(FANCM):c.3072C>G (p.Pro1024=)
|
rs749180096
|
|
|
NM_020937.4(FANCM):c.3075T>C (p.Cys1025=)
|
rs1237374207
|
|
|
NM_020937.4(FANCM):c.3159A>G (p.Ser1053=)
|
|
|
|
NM_020937.4(FANCM):c.3177T>C (p.Tyr1059=)
|
|
|
|
NM_020937.4(FANCM):c.3213T>C (p.Asn1071=)
|
|
|
|
NM_020937.4(FANCM):c.3297T>G (p.Arg1099=)
|
|
|
|
NM_020937.4(FANCM):c.3300T>C (p.Val1100=)
|
rs2139247394
|
|
|
NM_020937.4(FANCM):c.3321A>G (p.Ala1107=)
|
rs2139247556
|
|
|
NM_020937.4(FANCM):c.3360C>T (p.Asn1120=)
|
rs2139247801
|
|
|
NM_020937.4(FANCM):c.3363T>C (p.Ser1121=)
|
rs746805378
|
|
|
NM_020937.4(FANCM):c.336T>A (p.Pro112=)
|
rs2139102671
|
|
|
NM_020937.4(FANCM):c.3384T>G (p.Thr1128=)
|
rs1888673774
|
|
|
NM_020937.4(FANCM):c.339C>T (p.Thr113=)
|
rs2139102705
|
|
|
NM_020937.4(FANCM):c.3405G>A (p.Leu1135=)
|
|
|
|
NM_020937.4(FANCM):c.3426A>G (p.Thr1142=)
|
rs1888678554
|
|
|
NM_020937.4(FANCM):c.3453C>T (p.Pro1151=)
|
|
|
|
NM_020937.4(FANCM):c.3459C>T (p.Asn1153=)
|
rs200543364
|
|
|
NM_020937.4(FANCM):c.3468C>T (p.Ser1156=)
|
rs756947100
|
|
|
NM_020937.4(FANCM):c.3480T>C (p.Pro1160=)
|
rs2139248830
|
|
|
NM_020937.4(FANCM):c.3525G>A (p.Gln1175=)
|
rs761300333
|
|
|
NM_020937.4(FANCM):c.3546T>G (p.Leu1182=)
|
|
|
|
NM_020937.4(FANCM):c.3567A>G (p.Glu1189=)
|
rs923480918
|
|
|
NM_020937.4(FANCM):c.3594T>C (p.Ala1198=)
|
rs2139249785
|
|
|
NM_020937.4(FANCM):c.3606A>G (p.Lys1202=)
|
|
|
|
NM_020937.4(FANCM):c.3657T>C (p.Asp1219=)
|
rs2139250297
|
|
|
NM_020937.4(FANCM):c.3663T>C (p.Phe1221=)
|
rs772996800
|
|
|
NM_020937.4(FANCM):c.3669C>T (p.Cys1223=)
|
|
|
|
NM_020937.4(FANCM):c.3673A>C (p.Arg1225=)
|
rs751089780
|
|
|
NM_020937.4(FANCM):c.3747A>G (p.Thr1249=)
|
rs1017919543
|
|
|
NM_020937.4(FANCM):c.3753T>C (p.Asp1251=)
|
rs748733630
|
|
|
NM_020937.4(FANCM):c.3759T>C (p.Asn1253=)
|
rs762631403
|
|
|
NM_020937.4(FANCM):c.3780T>C (p.Tyr1260=)
|
|
|
|
NM_020937.4(FANCM):c.3783A>G (p.Gly1261=)
|
|
|
|
NM_020937.4(FANCM):c.3822T>C (p.Tyr1274=)
|
|
|
|
NM_020937.4(FANCM):c.3834A>G (p.Gln1278=)
|
|
|
|
NM_020937.4(FANCM):c.3873T>C (p.Ser1291=)
|
|
|
|
NM_020937.4(FANCM):c.3909G>A (p.Gln1303=)
|
rs1594799961
|
|
|
NM_020937.4(FANCM):c.3963A>G (p.Leu1321=)
|
rs2139252605
|
|
|
NM_020937.4(FANCM):c.3988T>C (p.Leu1330=)
|
rs2139252786
|
|
|
NM_020937.4(FANCM):c.4002A>G (p.Lys1334=)
|
rs2139252929
|
|
|
NM_020937.4(FANCM):c.4005A>G (p.Lys1335=)
|
rs1888735204
|
|
|
NM_020937.4(FANCM):c.4017A>G (p.Thr1339=)
|
|
|
|
NM_020937.4(FANCM):c.4023C>G (p.Leu1341=)
|
rs1594800133
|
|
|
NM_020937.4(FANCM):c.4029A>G (p.Lys1343=)
|
|
|
|
NM_020937.4(FANCM):c.4068A>G (p.Glu1356=)
|
rs1366630408
|
|
|
NM_020937.4(FANCM):c.4113A>G (p.Gln1371=)
|
rs757705970
|
|
|
NM_020937.4(FANCM):c.411G>T (p.Val137=)
|
|
|
|
NM_020937.4(FANCM):c.414C>G (p.Val138=)
|
rs2139103448
|
|
|
NM_020937.4(FANCM):c.4161T>C (p.Ser1387=)
|
|
|
|
NM_020937.4(FANCM):c.4162C>T (p.Leu1388=)
|
rs769653358
|
|
|
NM_020937.4(FANCM):c.417C>T (p.Phe139=)
|
|
|
|
NM_020937.4(FANCM):c.4188A>G (p.Pro1396=)
|
rs2139254003
|
|
|
NM_020937.4(FANCM):c.4222+15T>C
|
|
|
|
NM_020937.4(FANCM):c.4222+15_4222+16insAT
|
rs1177059971
|
|
|
NM_020937.4(FANCM):c.4222+16T>A
|
rs753893593
|
|
|
NM_020937.4(FANCM):c.4222+19A>G
|
|
|
|
NM_020937.4(FANCM):c.4223-15A>C
|
rs2139269896
|
|
|
NM_020937.4(FANCM):c.4223-16A>T
|
|
|
|
NM_020937.4(FANCM):c.426A>C (p.Pro142=)
|
|
|
|
NM_020937.4(FANCM):c.4290A>C (p.Ala1430=)
|
|
|
|
NM_020937.4(FANCM):c.4308C>T (p.Asn1436=)
|
|
|
|
NM_020937.4(FANCM):c.4317+15A>G
|
|
|
|
NM_020937.4(FANCM):c.4317+19_4317+46del
|
|
|
|
NM_020937.4(FANCM):c.4317+7C>G
|
rs1411847222
|
|
|
NM_020937.4(FANCM):c.4317+8A>T
|
rs2139270413
|
|
|
NM_020937.4(FANCM):c.4317+8_4317+16dup
|
|
|
|
NM_020937.4(FANCM):c.4318-13T>G
|
|
|
|
NM_020937.4(FANCM):c.4318-15A>G
|
|
|
|
NM_020937.4(FANCM):c.4318-16dup
|
|
|
|
NM_020937.4(FANCM):c.4318-6C>T
|
rs1594806015
|
|
|
NM_020937.4(FANCM):c.4318-7_4318-4del
|
|
|
|
NM_020937.4(FANCM):c.4329T>C (p.Asn1443=)
|
|
|
|
NM_020937.4(FANCM):c.4380A>T (p.Ile1460=)
|
|
|
|
NM_020937.4(FANCM):c.4386+13C>A
|
|
|
|
NM_020937.4(FANCM):c.4387-12G>A
|
rs776419214
|
|
|
NM_020937.4(FANCM):c.4387-4A>G
|
rs567206367
|
|
|
NM_020937.4(FANCM):c.4387-8T>C
|
rs1323174217
|
|
|
NM_020937.4(FANCM):c.438G>A (p.Leu146=)
|
|
|
|
NM_020937.4(FANCM):c.4410G>A (p.Glu1470=)
|
|
|
|
NM_020937.4(FANCM):c.4410G>C (p.Glu1470Asp)
|
rs534488351
|
|
|
NM_020937.4(FANCM):c.4425C>G (p.Pro1475=)
|
|
|
|
NM_020937.4(FANCM):c.444A>T (p.Thr148=)
|
|
|
|
NM_020937.4(FANCM):c.4461T>C (p.Cys1487=)
|
rs2139278112
|
|
|
NM_020937.4(FANCM):c.4473C>T (p.Ala1491=)
|
|
|
|
NM_020937.4(FANCM):c.4498A>C (p.Arg1500=)
|
rs890874156
|
|
|
NM_020937.4(FANCM):c.4509C>T (p.His1503=)
|
rs2139278586
|
|
|
NM_020937.4(FANCM):c.4515+11_4515+14del
|
rs747887646
|
|
|
NM_020937.4(FANCM):c.4516-16A>C
|
|
|
|
NM_020937.4(FANCM):c.4516-8T>C
|
|
|
|
NM_020937.4(FANCM):c.4524T>C (p.Ala1508=)
|
rs1275446853
|
|
|
NM_020937.4(FANCM):c.4525A>C (p.Arg1509=)
|
|
|
|
NM_020937.4(FANCM):c.4527G>A (p.Arg1509=)
|
|
|
|
NM_020937.4(FANCM):c.4548A>G (p.Ala1516=)
|
rs980940741
|
|
|
NM_020937.4(FANCM):c.4566T>C (p.Asp1522=)
|
rs375131983
|
|
|
NM_020937.4(FANCM):c.4608T>C (p.Asn1536=)
|
|
|
|
NM_020937.4(FANCM):c.4617T>C (p.Asp1539=)
|
|
|
|
NM_020937.4(FANCM):c.4620C>G (p.Ser1540=)
|
|
|
|
NM_020937.4(FANCM):c.465C>T (p.Tyr155=)
|
rs1885520790
|
|
|
NM_020937.4(FANCM):c.4665T>C (p.Ala1555=)
|
|
|
|
NM_020937.4(FANCM):c.4672+10A>G
|
|
|
|
NM_020937.4(FANCM):c.4672+18C>A
|
|
|
|
NM_020937.4(FANCM):c.4672+7G>C
|
|
|
|
NM_020937.4(FANCM):c.4672+8T>A
|
|
|
|
NM_020937.4(FANCM):c.4673-10C>T
|
|
|
|
NM_020937.4(FANCM):c.4673-12A>T
|
|
|
|
NM_020937.4(FANCM):c.4673-15C>G
|
rs2139291737
|
|
|
NM_020937.4(FANCM):c.4673-5C>T
|
|
|
|
NM_020937.4(FANCM):c.4686A>G (p.Arg1562=)
|
rs1889498706
|
|
|
NM_020937.4(FANCM):c.4758A>G (p.Lys1586=)
|
rs2139292189
|
|
|
NM_020937.4(FANCM):c.4779+10A>G
|
|
|
|
NM_020937.4(FANCM):c.4779+10A>T
|
|
|
|
NM_020937.4(FANCM):c.4779+14A>T
|
|
|
|
NM_020937.4(FANCM):c.4779+16A>C
|
|
|
|
NM_020937.4(FANCM):c.4779+18A>G
|
|
|
|
NM_020937.4(FANCM):c.4779+7A>T
|
|
|
|
NM_020937.4(FANCM):c.4780-10T>C
|
|
|
|
NM_020937.4(FANCM):c.4780-16T>C
|
rs981677198
|
|
|
NM_020937.4(FANCM):c.4780-4G>A
|
|
|
|
NM_020937.4(FANCM):c.4780-4G>C
|
rs1486453187
|
|
|
NM_020937.4(FANCM):c.4780-6T>C
|
|
|
|
NM_020937.4(FANCM):c.4809G>A (p.Glu1603=)
|
rs1209233923
|
|
|
NM_020937.4(FANCM):c.480C>T (p.Ile160=)
|
rs753171718
|
|
|
NM_020937.4(FANCM):c.4812T>C (p.Asp1604=)
|
|
|
|
NM_020937.4(FANCM):c.4851A>G (p.Gln1617=)
|
|
|
|
NM_020937.4(FANCM):c.4859AAG[2] (p.Glu1622del)
|
rs765421461
|
|
|
NM_020937.4(FANCM):c.486A>G (p.Gln162=)
|
|
|
|
NM_020937.4(FANCM):c.4896T>C (p.Asp1632=)
|
|
|
|
NM_020937.4(FANCM):c.4989A>G (p.Lys1663=)
|
rs2139296164
|
|
|
NM_020937.4(FANCM):c.5001T>A (p.Ile1667=)
|
rs1566782787
|
|
|
NM_020937.4(FANCM):c.5005T>C (p.Leu1669=)
|
rs2139296234
|
|
|
NM_020937.4(FANCM):c.5010A>C (p.Pro1670=)
|
|
|
|
NM_020937.4(FANCM):c.5022T>C (p.Ser1674=)
|
rs1295913364
|
|
|
NM_020937.4(FANCM):c.5028G>A (p.Glu1676=)
|
rs1294591452
|
|
|
NM_020937.4(FANCM):c.5037T>C (p.Asn1679=)
|
rs2139296506
|
|
|
NM_020937.4(FANCM):c.5070T>C (p.Val1690=)
|
|
|
|
NM_020937.4(FANCM):c.508+11C>T
|
|
|
|
NM_020937.4(FANCM):c.508+17T>C
|
|
|
|
NM_020937.4(FANCM):c.508+19A>G
|
|
|
|
NM_020937.4(FANCM):c.508+20T>C
|
|
|
|
NM_020937.4(FANCM):c.5118T>C (p.Asn1706=)
|
|
|
|
NM_020937.4(FANCM):c.5121A>G (p.Ser1707=)
|
|
|
|
NM_020937.4(FANCM):c.5148C>A (p.Ser1716=)
|
rs201043779
|
|
|
NM_020937.4(FANCM):c.5166A>C (p.Pro1722=)
|
|
|
|
NM_020937.4(FANCM):c.5166A>G (p.Pro1722=)
|
rs753430768
|
|
|
NM_020937.4(FANCM):c.5193C>T (p.Ser1731=)
|
rs1016481325
|
|
|
NM_020937.4(FANCM):c.5199G>A (p.Gln1733=)
|
rs1555367253
|
|
|
NM_020937.4(FANCM):c.51C>T (p.Ser17=)
|
rs974750486
|
|
|
NM_020937.4(FANCM):c.5202A>T (p.Thr1734=)
|
|
|
|
NM_020937.4(FANCM):c.525C>T (p.Ser175=)
|
rs1594751744
|
|
|
NM_020937.4(FANCM):c.5277C>G (p.Thr1759=)
|
|
|
|
NM_020937.4(FANCM):c.5277C>T (p.Thr1759=)
|
rs757298864
|
|
|
NM_020937.4(FANCM):c.528C>A (p.Thr176=)
|
|
|
|
NM_020937.4(FANCM):c.5331T>C (p.Val1777=)
|
|
|
|
NM_020937.4(FANCM):c.5340+10A>C
|
|
|
|
NM_020937.4(FANCM):c.5340+13G>T
|
rs1566783918
|
|
|
NM_020937.4(FANCM):c.5340+19A>G
|
|
|
|
NM_020937.4(FANCM):c.5341-10A>G
|
rs900420318
|
|
|
NM_020937.4(FANCM):c.5346T>C (p.Gly1782=)
|
|
|
|
NM_020937.4(FANCM):c.5367C>T (p.Ser1789=)
|
|
|
|
NM_020937.4(FANCM):c.5376G>A (p.Gly1792=)
|
|
|
|
NM_020937.4(FANCM):c.5409T>A (p.Ala1803=)
|
|
|
|
NM_020937.4(FANCM):c.5415A>G (p.Thr1805=)
|
rs1594481117
|
|
|
NM_020937.4(FANCM):c.5424T>C (p.Ser1808=)
|
|
|
|
NM_020937.4(FANCM):c.5436G>T (p.Pro1812=)
|
rs377630399
|
|
|
NM_020937.4(FANCM):c.5466A>G (p.Val1822=)
|
rs990911529
|
|
|
NM_020937.4(FANCM):c.54A>G (p.Arg18=)
|
rs1885467009
|
|
|
NM_020937.4(FANCM):c.5508C>T (p.Ser1836=)
|
|
|
|
NM_020937.4(FANCM):c.5523T>C (p.His1841=)
|
rs753441608
|
|
|
NM_020937.4(FANCM):c.5565C>T (p.Tyr1855=)
|
rs745364887
|
|
|
NM_020937.4(FANCM):c.5598G>A (p.Arg1866=)
|
rs771248011
|
|
|
NM_020937.4(FANCM):c.5604A>G (p.Gln1868=)
|
rs1271195801
|
|
|
NM_020937.4(FANCM):c.5628T>C (p.Asn1876=)
|
rs1039452790
|
|
|
NM_020937.4(FANCM):c.5652C>A (p.Ile1884=)
|
|
|
|
NM_020937.4(FANCM):c.5703C>T (p.Asp1901=)
|
|
|
|
NM_020937.4(FANCM):c.5716+16T>C
|
|
|
|
NM_020937.4(FANCM):c.5716+23_5716+26del
|
rs745329742
|
|
|
NM_020937.4(FANCM):c.5716+7A>G
|
|
|
|
NM_020937.4(FANCM):c.5717-10G>T
|
rs939194173
|
|
|
NM_020937.4(FANCM):c.5717-18C>T
|
|
|
|
NM_020937.4(FANCM):c.5717-19C>T
|
|
|
|
NM_020937.4(FANCM):c.5760C>T (p.Ser1920=)
|
|
|
|
NM_020937.4(FANCM):c.5769T>C (p.Thr1923=)
|
rs775627849
|
|
|
NM_020937.4(FANCM):c.576G>A (p.Gln192=)
|
|
|
|
NM_020937.4(FANCM):c.5781C>T (p.Gly1927=)
|
|
|
|
NM_020937.4(FANCM):c.5811C>T (p.Cys1937=)
|
rs2139328462
|
|
|
NM_020937.4(FANCM):c.5835A>G (p.Leu1945=)
|
rs752621594
|
|
|
NM_020937.4(FANCM):c.5844G>A (p.Leu1948=)
|
|
|
|
NM_020937.4(FANCM):c.5844G>C (p.Leu1948=)
|
|
|
|
NM_020937.4(FANCM):c.5853G>A (p.Val1951=)
|
|
|
|
NM_020937.4(FANCM):c.5889A>G (p.Thr1963=)
|
|
|
|
NM_020937.4(FANCM):c.6008+12G>A
|
rs980668545
|
|
|
NM_020937.4(FANCM):c.6008+9G>A
|
rs2139329468
|
|
|
NM_020937.4(FANCM):c.6009-8T>C
|
|
|
|
NM_020937.4(FANCM):c.6090T>C (p.Phe2030=)
|
|
|
|
NM_020937.4(FANCM):c.6117T>A (p.Leu2039=)
|
|
|
|
NM_020937.4(FANCM):c.6135A>G (p.Lys2045=)
|
|
|
|
NM_020937.4(FANCM):c.6138T>C (p.Ser2046=)
|
rs746677351
|
|
|
NM_020937.4(FANCM):c.6138T>G (p.Ser2046=)
|
rs746677351
|
|
|
NM_020937.4(FANCM):c.639T>C (p.Ile213=)
|
|
|
|
NM_020937.4(FANCM):c.660C>T (p.Leu220=)
|
|
|
|
NM_020937.4(FANCM):c.666C>T (p.Asn222=)
|
rs2139107219
|
|
|
NM_020937.4(FANCM):c.681+11T>G
|
|
|
|
NM_020937.4(FANCM):c.681+16A>G
|
|
|
|
NM_020937.4(FANCM):c.681+19G>A
|
rs1423581956
|
|
|
NM_020937.4(FANCM):c.681+20G>T
|
|
|
|
NM_020937.4(FANCM):c.681+7A>C
|
|
|
|
NM_020937.4(FANCM):c.682-14T>G
|
|
|
|
NM_020937.4(FANCM):c.682-21_682-20delinsTG
|
|
|
|
NM_020937.4(FANCM):c.682-4T>C
|
rs1566721529
|
|
|
NM_020937.4(FANCM):c.682-6del
|
rs775413053
|
|
|
NM_020937.4(FANCM):c.682-6dup
|
|
|
|
NM_020937.4(FANCM):c.69G>C (p.Pro23=)
|
|
|
|
NM_020937.4(FANCM):c.705T>C (p.Tyr235=)
|
rs567726889
|
|
|
NM_020937.4(FANCM):c.730C>T (p.Leu244=)
|
rs376357342
|
|
|
NM_020937.4(FANCM):c.759+19C>T
|
|
|
|
NM_020937.4(FANCM):c.759+19dup
|
|
|
|
NM_020937.4(FANCM):c.75C>T (p.Cys25=)
|
rs1885469049
|
|
|
NM_020937.4(FANCM):c.760-19C>T
|
rs2139151206
|
|
|
NM_020937.4(FANCM):c.760-19_760-16del
|
|
|
|
NM_020937.4(FANCM):c.784C>T (p.Leu262=)
|
rs574219989
|
|
|
NM_020937.4(FANCM):c.786G>A (p.Leu262=)
|
|
|
|
NM_020937.4(FANCM):c.78C>T (p.Ser26=)
|
|
|
|
NM_020937.4(FANCM):c.81C>T (p.Ser27=)
|
rs1388168603
|
|
|
NM_020937.4(FANCM):c.825A>G (p.Pro275=)
|
|
|
|
NM_020937.4(FANCM):c.876G>A (p.Pro292=)
|
rs150757891
|
|
|
NM_020937.4(FANCM):c.888A>G (p.Glu296=)
|
|
|
|
NM_020937.4(FANCM):c.903A>G (p.Gln301=)
|
|
|
|
NM_020937.4(FANCM):c.912T>C (p.Tyr304=)
|
rs2139152230
|
|
|
NM_020937.4(FANCM):c.915C>T (p.Ile305=)
|
|
|
|
NM_020937.4(FANCM):c.918+12_918+13del
|
|
|
|
NM_020937.4(FANCM):c.918+17A>G
|
|
|
|
NM_020937.4(FANCM):c.918+8A>G
|
rs917973556
|
|
|
NM_020937.4(FANCM):c.919-19A>G
|
|
|
|
NM_020937.4(FANCM):c.924G>A (p.Leu308=)
|
rs756513033
|
|
|
NM_020937.4(FANCM):c.993A>G (p.Lys331=)
|
|
|
|
NM_020937.4(FANCM):c.9A>G (p.Gly3=)
|
rs2139099234
|
|
|
NM_021922.3(FANCE):c.1023C>T (p.Leu341=)
|
rs1767435236
|
|
|
NM_021922.3(FANCE):c.1029G>A (p.Arg343=)
|
|
|
|
NM_021922.3(FANCE):c.1044G>A (p.Leu348=)
|
|
|
|
NM_021922.3(FANCE):c.105G>A (p.Ala35=)
|
|
|
|
NM_021922.3(FANCE):c.105G>C (p.Ala35=)
|
|
|
|
NM_021922.3(FANCE):c.1068C>T (p.Ser356=)
|
|
|
|
NM_021922.3(FANCE):c.1087C>T (p.Leu363=)
|
|
|
|
NM_021922.3(FANCE):c.108G>T (p.Gly36=)
|
|
|
|
NM_021922.3(FANCE):c.1113+10T>C
|
|
|
|
NM_021922.3(FANCE):c.1113+11T>C
|
|
|
|
NM_021922.3(FANCE):c.1113+15A>T
|
|
|
|
NM_021922.3(FANCE):c.1113+20C>T
|
|
|
|
NM_021922.3(FANCE):c.1114-11G>T
|
|
|
|
NM_021922.3(FANCE):c.1114-16T>G
|
rs2150896195
|
|
|
NM_021922.3(FANCE):c.1114-17C>T
|
|
|
|
NM_021922.3(FANCE):c.1114-17del
|
|
|
|
NM_021922.3(FANCE):c.1131C>A (p.Ser377=)
|
|
|
|
NM_021922.3(FANCE):c.1155T>C (p.Thr385=)
|
|
|
|
NM_021922.3(FANCE):c.1158C>A (p.Ala386=)
|
|
|
|
NM_021922.3(FANCE):c.1164C>T (p.Thr388=)
|
rs2150896392
|
|
|
NM_021922.3(FANCE):c.1176C>G (p.Ala392=)
|
rs1581704152
|
|
|
NM_021922.3(FANCE):c.1176C>T (p.Ala392=)
|
|
|
|
NM_021922.3(FANCE):c.1182T>C (p.Tyr394=)
|
|
|
|
NM_021922.3(FANCE):c.1206C>T (p.Leu402=)
|
|
|
|
NM_021922.3(FANCE):c.1221C>G (p.Leu407=)
|
rs752130850
|
|
|
NM_021922.3(FANCE):c.1237+14C>T
|
|
|
|
NM_021922.3(FANCE):c.1237+18C>T
|
|
|
|
NM_021922.3(FANCE):c.1237+20C>T
|
|
|
|
NM_021922.3(FANCE):c.1237+7C>T
|
|
|
|
NM_021922.3(FANCE):c.1238-13del
|
|
|
|
NM_021922.3(FANCE):c.1254G>A (p.Glu418=)
|
|
|
|
NM_021922.3(FANCE):c.1258C>T (p.Leu420=)
|
|
|
|
NM_021922.3(FANCE):c.1260G>T (p.Leu420=)
|
|
|
|
NM_021922.3(FANCE):c.1263T>C (p.Cys421=)
|
rs747692546
|
|
|
NM_021922.3(FANCE):c.1266C>T (p.Cys422=)
|
|
|
|
NM_021922.3(FANCE):c.1284C>G (p.Ser428=)
|
|
|
|
NM_021922.3(FANCE):c.1296T>C (p.Asp432=)
|
|
|
|
NM_021922.3(FANCE):c.1316+13G>A
|
|
|
|
NM_021922.3(FANCE):c.1316+20T>C
|
rs2150897379
|
|
|
NM_021922.3(FANCE):c.1317-18A>G
|
|
|
|
NM_021922.3(FANCE):c.1317-7T>C
|
|
|
|
NM_021922.3(FANCE):c.1317-9G>A
|
|
|
|
NM_021922.3(FANCE):c.1332G>A (p.Leu444=)
|
|
|
|
NM_021922.3(FANCE):c.1344G>A (p.Glu448=)
|
|
|
|
NM_021922.3(FANCE):c.1353C>T (p.Phe451=)
|
rs2150898463
|
|
|
NM_021922.3(FANCE):c.1354T>C (p.Leu452=)
|
|
|
|
NM_021922.3(FANCE):c.1359G>A (p.Val453=)
|
|
|
|
NM_021922.3(FANCE):c.1371C>T (p.Leu457=)
|
|
|
|
NM_021922.3(FANCE):c.1374A>G (p.Leu458=)
|
|
|
|
NM_021922.3(FANCE):c.1383+10C>T
|
rs1060504374
|
|
|
NM_021922.3(FANCE):c.1383+12G>T
|
|
|
|
NM_021922.3(FANCE):c.1383+13C>T
|
|
|
|
NM_021922.3(FANCE):c.1383+15C>G
|
rs1426965534
|
|
|
NM_021922.3(FANCE):c.1383+16T>C
|
|
|
|
NM_021922.3(FANCE):c.1383+17G>A
|
|
|
|
NM_021922.3(FANCE):c.1383+17G>C
|
|
|
|
NM_021922.3(FANCE):c.1383+8G>C
|
|
|
|
NM_021922.3(FANCE):c.1384-10A>T
|
rs2150901325
|
|
|
NM_021922.3(FANCE):c.1384-16C>A
|
|
|
|
NM_021922.3(FANCE):c.1384-19C>T
|
|
|
|
NM_021922.3(FANCE):c.138G>A (p.Val46=)
|
rs2150885789
|
|
|
NM_021922.3(FANCE):c.1398T>C (p.Pro466=)
|
|
|
|
NM_021922.3(FANCE):c.1413C>T (p.Val471=)
|
|
|
|
NM_021922.3(FANCE):c.141C>T (p.Leu47=)
|
|
|
|
NM_021922.3(FANCE):c.1428C>T (p.Leu476=)
|
|
|
|
NM_021922.3(FANCE):c.1440G>T (p.Gly480=)
|
rs757745455
|
|
|
NM_021922.3(FANCE):c.1452C>G (p.Thr484=)
|
|
|
|
NM_021922.3(FANCE):c.1455C>T (p.Thr485=)
|
|
|
|
NM_021922.3(FANCE):c.1464C>G (p.Ala488=)
|
|
|
|
NM_021922.3(FANCE):c.1476C>T (p.Leu492=)
|
|
|
|
NM_021922.3(FANCE):c.1488G>A (p.Val496=)
|
|
|
|
NM_021922.3(FANCE):c.1494C>T (p.Thr498=)
|
|
|
|
NM_021922.3(FANCE):c.1509+13A>G
|
|
|
|
NM_021922.3(FANCE):c.1509+14G>A
|
|
|
|
NM_021922.3(FANCE):c.1509+14G>C
|
|
|
|
NM_021922.3(FANCE):c.1509+16G>T
|
rs2150901703
|
|
|
NM_021922.3(FANCE):c.1509+17C>A
|
rs748424208
|
|
|
NM_021922.3(FANCE):c.1509+7A>G
|
rs1021695027
|
|
|
NM_021922.3(FANCE):c.1509+8T>G
|
|
|
|
NM_021922.3(FANCE):c.1510-10T>G
|
|
|
|
NM_021922.3(FANCE):c.1510-13T>A
|
|
|
|
NM_021922.3(FANCE):c.1510-15T>C
|
|
|
|
NM_021922.3(FANCE):c.1510-17T>C
|
|
|
|
NM_021922.3(FANCE):c.1510-6C>T
|
|
|
|
NM_021922.3(FANCE):c.1510-9T>C
|
rs369210475
|
|
|
NM_021922.3(FANCE):c.1512C>T (p.Ile504=)
|
|
|
|
NM_021922.3(FANCE):c.1515T>C (p.Thr505=)
|
|
|
|
NM_021922.3(FANCE):c.1518G>A (p.Glu506=)
|
|
|
|
NM_021922.3(FANCE):c.153C>T (p.Gly51=)
|
|
|
|
NM_021922.3(FANCE):c.1587C>T (p.Ala529=)
|
|
|
|
NM_021922.3(FANCE):c.1593G>A (p.Leu531=)
|
rs886061332
|
|
|
NM_021922.3(FANCE):c.159C>G (p.Arg53=)
|
|
|
|
NM_021922.3(FANCE):c.1600T>C (p.Leu534=)
|
|
|
|
NM_021922.3(FANCE):c.1608C>T (p.Pro536=)
|
|
|
|
NM_021922.3(FANCE):c.162C>T (p.Gly54=)
|
|
|
|
NM_021922.3(FANCE):c.174C>T (p.Phe58=)
|
|
|
|
NM_021922.3(FANCE):c.18G>T (p.Ala6=)
|
rs962145261
|
|
|
NM_021922.3(FANCE):c.192C>G (p.Leu64=)
|
|
|
|
NM_021922.3(FANCE):c.199C>T (p.Leu67=)
|
rs1161408735
|
|
|
NM_021922.3(FANCE):c.207G>T (p.Arg69=)
|
|
|
|
NM_021922.3(FANCE):c.216G>A (p.Pro72=)
|
|
|
|
NM_021922.3(FANCE):c.222G>C (p.Val74=)
|
rs1015415361
|
|
|
NM_021922.3(FANCE):c.222G>T (p.Val74=)
|
rs1015415361
|
|
|
NM_021922.3(FANCE):c.248+11G>A
|
|
|
|
NM_021922.3(FANCE):c.248+11G>C
|
|
|
|
NM_021922.3(FANCE):c.248+13C>T
|
|
|
|
NM_021922.3(FANCE):c.248+14C>A
|
|
|
|
NM_021922.3(FANCE):c.248+19C>T
|
|
|
|
NM_021922.3(FANCE):c.249-11C>A
|
|
|
|
NM_021922.3(FANCE):c.249-18T>C
|
|
|
|
NM_021922.3(FANCE):c.259T>C (p.Leu87=)
|
|
|
|
NM_021922.3(FANCE):c.265C>A (p.Arg89=)
|
|
|
|
NM_021922.3(FANCE):c.273C>T (p.Pro91=)
|
|
|
|
NM_021922.3(FANCE):c.304C>T (p.Leu102=)
|
|
|
|
NM_021922.3(FANCE):c.318G>A (p.Arg106=)
|
|
|
|
NM_021922.3(FANCE):c.325C>T (p.Leu109=)
|
|
|
|
NM_021922.3(FANCE):c.342C>T (p.Leu114=)
|
|
|
|
NM_021922.3(FANCE):c.345C>T (p.Leu115=)
|
|
|
|
NM_021922.3(FANCE):c.351G>A (p.Val117=)
|
|
|
|
NM_021922.3(FANCE):c.358A>G (p.Ile120Val)
|
rs201961713
|
|
|
NM_021922.3(FANCE):c.363C>G (p.Ala121=)
|
|
|
|
NM_021922.3(FANCE):c.373C>T (p.Leu125=)
|
|
|
|
NM_021922.3(FANCE):c.39C>T (p.Gly13=)
|
|
|
|
NM_021922.3(FANCE):c.405C>T (p.Ala135=)
|
rs1767311517
|
|
|
NM_021922.3(FANCE):c.415T>C (p.Leu139=)
|
|
|
|
NM_021922.3(FANCE):c.421C>A (p.Arg141=)
|
|
|
|
NM_021922.3(FANCE):c.426G>A (p.Arg142=)
|
|
|
|
NM_021922.3(FANCE):c.430T>C (p.Leu144=)
|
rs1377892215
|
|
|
NM_021922.3(FANCE):c.435G>C (p.Gly145=)
|
|
|
|
NM_021922.3(FANCE):c.438G>A (p.Val146=)
|
|
|
|
NM_021922.3(FANCE):c.444C>G (p.Thr148=)
|
|
|
|
NM_021922.3(FANCE):c.447C>G (p.Ser149=)
|
|
|
|
NM_021922.3(FANCE):c.456A>C (p.Gly152=)
|
|
|
|
NM_021922.3(FANCE):c.465A>G (p.Pro155=)
|
|
|
|
NM_021922.3(FANCE):c.465A>T (p.Pro155=)
|
|
|
|
NM_021922.3(FANCE):c.477A>G (p.Arg159=)
|
|
|
|
NM_021922.3(FANCE):c.519G>A (p.Leu173=)
|
|
|
|
NM_021922.3(FANCE):c.519G>C (p.Leu173=)
|
|
|
|
NM_021922.3(FANCE):c.519G>T (p.Leu173=)
|
|
|
|
NM_021922.3(FANCE):c.51G>T (p.Ala17=)
|
|
|
|
NM_021922.3(FANCE):c.525C>T (p.Gly175=)
|
|
|
|
NM_021922.3(FANCE):c.531G>A (p.Arg177=)
|
|
|
|
NM_021922.3(FANCE):c.543C>G (p.Pro181=)
|
|
|
|
NM_021922.3(FANCE):c.54C>T (p.Pro18=)
|
|
|
|
NM_021922.3(FANCE):c.552A>G (p.Pro184=)
|
|
|
|
NM_021922.3(FANCE):c.561A>G (p.Glu187=)
|
rs1554121329
|
|
|
NM_021922.3(FANCE):c.564A>G (p.Glu188=)
|
|
|
|
NM_021922.3(FANCE):c.567G>A (p.Glu189=)
|
|
|
|
NM_021922.3(FANCE):c.597A>G (p.Lys199=)
|
|
|
|
NM_021922.3(FANCE):c.600C>T (p.Arg200=)
|
|
|
|
NM_021922.3(FANCE):c.618A>G (p.Glu206=)
|
|
|
|
NM_021922.3(FANCE):c.627C>G (p.Ala209=)
|
|
|
|
NM_021922.3(FANCE):c.636G>A (p.Glu212=)
|
|
|
|
NM_021922.3(FANCE):c.642G>A (p.Lys214=)
|
|
|
|
NM_021922.3(FANCE):c.663G>T (p.Arg221=)
|
|
|
|
NM_021922.3(FANCE):c.702C>G (p.Pro234=)
|
|
|
|
NM_021922.3(FANCE):c.702C>T (p.Pro234=)
|
|
|
|
NM_021922.3(FANCE):c.711G>A (p.Lys237=)
|
|
|
|
NM_021922.3(FANCE):c.720A>G (p.Glu240=)
|
|
|
|
NM_021922.3(FANCE):c.723C>T (p.Ser241=)
|
|
|
|
NM_021922.3(FANCE):c.726G>A (p.Leu242=)
|
|
|
|
NM_021922.3(FANCE):c.756G>A (p.Lys252=)
|
|
|
|
NM_021922.3(FANCE):c.759C>T (p.Asp253=)
|
rs200243667
|
|
|
NM_021922.3(FANCE):c.75C>T (p.Pro25=)
|
|
|
|
NM_021922.3(FANCE):c.768C>T (p.Val256=)
|
|
|
|
NM_021922.3(FANCE):c.777T>G (p.Val259=)
|
|
|
|
NM_021922.3(FANCE):c.798G>T (p.Ser266=)
|
rs746542545
|
|
|
NM_021922.3(FANCE):c.807T>C (p.Asp269=)
|
|
|
|
NM_021922.3(FANCE):c.813T>C (p.Ala271=)
|
|
|
|
NM_021922.3(FANCE):c.832T>C (p.Leu278=)
|
|
|
|
NM_021922.3(FANCE):c.838T>C (p.Leu280=)
|
|
|
|
NM_021922.3(FANCE):c.855+17A>T
|
|
|
|
NM_021922.3(FANCE):c.855+18C>G
|
|
|
|
NM_021922.3(FANCE):c.855+8G>A
|
|
|
|
NM_021922.3(FANCE):c.855+9G>A
|
|
|
|
NM_021922.3(FANCE):c.856-11C>T
|
|
|
|
NM_021922.3(FANCE):c.856-14G>T
|
|
|
|
NM_021922.3(FANCE):c.856-18C>T
|
|
|
|
NM_021922.3(FANCE):c.856-20G>T
|
|
|
|
NM_021922.3(FANCE):c.856-6C>T
|
|
|
|
NM_021922.3(FANCE):c.856-7T>C
|
|
|
|
NM_021922.3(FANCE):c.880C>T (p.Leu294=)
|
|
|
|
NM_021922.3(FANCE):c.897G>A (p.Glu299=)
|
rs2150893491
|
|
|
NM_021922.3(FANCE):c.901-10G>A
|
|
|
|
NM_021922.3(FANCE):c.901-15G>C
|
|
|
|
NM_021922.3(FANCE):c.901-5C>T
|
|
|
|
NM_021922.3(FANCE):c.901-6C>T
|
|
|
|
NM_021922.3(FANCE):c.901-7T>C
|
rs2150893886
|
|
|
NM_021922.3(FANCE):c.903G>A (p.Gly301=)
|
rs781287698
|
|
|
NM_021922.3(FANCE):c.927C>G (p.Pro309=)
|
rs763403812
|
|
|
NM_021922.3(FANCE):c.927C>T (p.Pro309=)
|
|
|
|
NM_021922.3(FANCE):c.930A>G (p.Pro310=)
|
|
|
|
NM_021922.3(FANCE):c.937C>T (p.Leu313=)
|
rs557021652
|
|
|
NM_021922.3(FANCE):c.969+11A>T
|
|
|
|
NM_021922.3(FANCE):c.969+18C>T
|
|
|
|
NM_021922.3(FANCE):c.969+20T>A
|
|
|
|
NM_021922.3(FANCE):c.969+7C>T
|
|
|
|
NM_021922.3(FANCE):c.969+9A>C
|
|
|
|
NM_021922.3(FANCE):c.96G>T (p.Ala32=)
|
|
|
|
NM_021922.3(FANCE):c.970-12C>T
|
|
|
|
NM_021922.3(FANCE):c.970-16C>G
|
rs117779586
|
|
|
NM_021922.3(FANCE):c.970-18C>A
|
rs1376629458
|
|
|
NM_021922.3(FANCE):c.970-18C>T
|
|
|
|
NM_021922.3(FANCE):c.970-20C>G
|
rs765193137
|
|
|
NM_021922.3(FANCE):c.970-8G>A
|
|
|
|
NM_021922.3(FANCE):c.970-9T>G
|
|
|
|
NM_021922.3(FANCE):c.975C>T (p.Asp325=)
|
|
|
|
NM_021922.3(FANCE):c.976T>C (p.Leu326=)
|
|
|
|
NM_021922.3(FANCE):c.981G>T (p.Leu327=)
|
rs772385794
|
|
|
NM_022725.4(FANCF):c.1035C>T (p.Ser345=)
|
rs1554963603
|
|
|
NM_022725.4(FANCF):c.1038C>T (p.Ile346=)
|
|
|
|
NM_022725.4(FANCF):c.1044A>G (p.Thr348=)
|
rs2133796228
|
|
|
NM_022725.4(FANCF):c.147T>G (p.Gly49=)
|
|
|
|
NM_022725.4(FANCF):c.156C>T (p.Gly52=)
|
|
|
|
NM_022725.4(FANCF):c.183G>A (p.Arg61=)
|
|
|
|
NM_022725.4(FANCF):c.184C>T (p.Leu62=)
|
rs2133798493
|
|
|
NM_022725.4(FANCF):c.186G>T (p.Leu62=)
|
|
|
|
NM_022725.4(FANCF):c.192C>T (p.Asn64=)
|
|
|
|
NM_022725.4(FANCF):c.203A>G (p.Gln68Arg)
|
|
|
|
NM_022725.4(FANCF):c.204A>G (p.Gln68=)
|
|
|
|
NM_022725.4(FANCF):c.231T>C (p.Val77=)
|
|
|
|
NM_022725.4(FANCF):c.249C>T (p.Phe83=)
|
rs1858633603
|
|
|
NM_022725.4(FANCF):c.24G>A (p.Leu8=)
|
rs1035401874
|
|
|
NM_022725.4(FANCF):c.258C>A (p.Leu86=)
|
rs146352365
|
|
|
NM_022725.4(FANCF):c.258C>T (p.Leu86=)
|
rs146352365
|
|
|
NM_022725.4(FANCF):c.267T>C (p.Cys89=)
|
|
|
|
NM_022725.4(FANCF):c.276G>C (p.Leu92=)
|
rs757554175
|
|
|
NM_022725.4(FANCF):c.291G>A (p.Leu97=)
|
|
|
|
NM_022725.4(FANCF):c.291G>C (p.Leu97=)
|
rs1418187939
|
|
|
NM_022725.4(FANCF):c.292C>T (p.Leu98=)
|
|
|
|
NM_022725.4(FANCF):c.306C>T (p.Ala102=)
|
|
|
|
NM_022725.4(FANCF):c.309C>T (p.Leu103=)
|
|
|
|
NM_022725.4(FANCF):c.345C>A (p.Leu115=)
|
rs749884571
|
|
|
NM_022725.4(FANCF):c.351C>T (p.Pro117=)
|
|
|
|
NM_022725.4(FANCF):c.36C>G (p.Ser12=)
|
rs1353229536
|
|
|
NM_022725.4(FANCF):c.378G>A (p.Glu126=)
|
rs1318651729
|
|
|
NM_022725.4(FANCF):c.412C>A (p.Arg138Ser)
|
rs565372884
|
|
|
NM_022725.4(FANCF):c.420G>A (p.Arg140=)
|
|
|
|
NM_022725.4(FANCF):c.429G>A (p.Val143=)
|
|
|
|
NM_022725.4(FANCF):c.462C>T (p.Asn154=)
|
rs2133797693
|
|
|
NM_022725.4(FANCF):c.471C>A (p.Leu157=)
|
rs201136733
|
|
|
NM_022725.4(FANCF):c.501G>A (p.Ala167=)
|
|
|
|
NM_022725.4(FANCF):c.507G>A (p.Leu169=)
|
|
|
|
NM_022725.4(FANCF):c.51C>T (p.Val17=)
|
rs2133798809
|
|
|
NM_022725.4(FANCF):c.555C>T (p.Pro185=)
|
rs1156693900
|
|
|
NM_022725.4(FANCF):c.600C>T (p.Asn200=)
|
rs143713546
|
|
|
NM_022725.4(FANCF):c.615A>T (p.Ile205=)
|
rs1858624791
|
|
|
NM_022725.4(FANCF):c.618G>C (p.Ala206=)
|
rs1056134185
|
|
|
NM_022725.4(FANCF):c.633G>A (p.Gln211=)
|
|
|
|
NM_022725.4(FANCF):c.636G>T (p.Pro212=)
|
rs2133797243
|
|
|
NM_022725.4(FANCF):c.645T>A (p.Ser215=)
|
rs2133797216
|
|
|
NM_022725.4(FANCF):c.654C>T (p.Pro218=)
|
|
|
|
NM_022725.4(FANCF):c.664T>C (p.Leu222=)
|
|
|
|
NM_022725.4(FANCF):c.69C>T (p.Val23=)
|
rs987030810
|
|
|
NM_022725.4(FANCF):c.724C>T (p.Leu242=)
|
|
|
|
NM_022725.4(FANCF):c.750C>A (p.Ala250=)
|
|
|
|
NM_022725.4(FANCF):c.762C>A (p.Ala254=)
|
rs1230699102
|
|
|
NM_022725.4(FANCF):c.765C>T (p.Leu255=)
|
|
|
|
NM_022725.4(FANCF):c.771C>G (p.Ala257=)
|
|
|
|
NM_022725.4(FANCF):c.771C>T (p.Ala257=)
|
|
|
|
NM_022725.4(FANCF):c.822T>C (p.Tyr274=)
|
|
|
|
NM_022725.4(FANCF):c.823C>T (p.Leu275=)
|
rs1858619649
|
|
|
NM_022725.4(FANCF):c.849A>G (p.Gln283=)
|
rs146848948
|
|
|
NM_022725.4(FANCF):c.861T>C (p.Tyr287=)
|
rs1029853294
|
|
|
NM_022725.4(FANCF):c.864C>T (p.Asp288=)
|
|
|
|
NM_022725.4(FANCF):c.885T>G (p.Val295=)
|
rs761238804
|
|
|
NM_022725.4(FANCF):c.891T>G (p.Thr297=)
|
rs1060504373
|
|
|
NM_022725.4(FANCF):c.90C>A (p.Thr30=)
|
|
|
|
NM_022725.4(FANCF):c.90C>T (p.Thr30=)
|
rs544395896
|
|
|
NM_022725.4(FANCF):c.924C>T (p.His308=)
|
|
|
|
NM_022725.4(FANCF):c.96C>G (p.Arg32=)
|
rs151253274
|
|
|
NM_022725.4(FANCF):c.987G>C (p.Leu329=)
|
rs2133796354
|
|
|
NM_022725.4(FANCF):c.993C>A (p.Thr331=)
|
|
|
|
NM_022725.4(FANCF):c.9C>A (p.Ser3=)
|
|
|
|
NM_022725.4(FANCF):c.9C>T (p.Ser3=)
|
rs1404225853
|
|
|
NM_023110.3(FGFR1):c.1011G>A (p.Gly337=)
|
|
|
|
NM_023110.3(FGFR1):c.1020G>A (p.Thr340=)
|
|
|
|
NM_023110.3(FGFR1):c.1044A>C (p.Gly348=)
|
|
|
|
NM_023110.3(FGFR1):c.1062A>G (p.Ala354=)
|
|
|
|
NM_023110.3(FGFR1):c.1081+16T>C
|
rs1414301323
|
|
|
NM_023110.3(FGFR1):c.1081+20_1081+22del
|
|
|
|
NM_023110.3(FGFR1):c.1081+8C>G
|
|
|
|
NM_023110.3(FGFR1):c.1081+9T>C
|
|
|
|
NM_023110.3(FGFR1):c.1082-12G>A
|
|
|
|
NM_023110.3(FGFR1):c.1082-20C>T
|
|
|
|
NM_023110.3(FGFR1):c.1096C>T (p.Pro366Ser)
|
|
|
|
NM_023110.3(FGFR1):c.1113G>A (p.Ser371=)
|
|
|
|
NM_023110.3(FGFR1):c.112G>A (p.Val38Met)
|
|
|
|
NM_023110.3(FGFR1):c.1179G>T (p.Ser393=)
|
rs374674165
|
|
|
NM_023110.3(FGFR1):c.1194G>A (p.Lys398=)
|
|
|
|
NM_023110.3(FGFR1):c.1203T>C (p.Ser401=)
|
|
|
|
NM_023110.3(FGFR1):c.1239T>C (p.Ala413=)
|
|
|
|
NM_023110.3(FGFR1):c.1245C>T (p.His415=)
|
|
|
|
NM_023110.3(FGFR1):c.1248G>A (p.Lys416=)
|
|
|
|
NM_023110.3(FGFR1):c.1272C>T (p.Arg424=)
|
|
|
|
NM_023110.3(FGFR1):c.1285-20G>A
|
|
|
|
NM_023110.3(FGFR1):c.1285-5T>C
|
|
|
|
NM_023110.3(FGFR1):c.1285-8C>A
|
rs1235765985
|
|
|
NM_023110.3(FGFR1):c.1285-8C>G
|
|
|
|
NM_023110.3(FGFR1):c.1296C>T (p.Asp432=)
|
rs1377886104
|
|
|
NM_023110.3(FGFR1):c.1324C>T (p.Leu442Phe)
|
|
|
|
NM_023110.3(FGFR1):c.1329G>A (p.Leu443=)
|
|
|
|
NM_023110.3(FGFR1):c.1356T>C (p.Ser452=)
|
|
|
|
NM_023110.3(FGFR1):c.141C>G (p.Pro47=)
|
rs553706848
|
|
|
NM_023110.3(FGFR1):c.141C>T (p.Pro47=)
|
|
|
|
NM_023110.3(FGFR1):c.1431-10C>T
|
|
|
|
NM_023110.3(FGFR1):c.1431-19T>A
|
|
|
|
NM_023110.3(FGFR1):c.1431-20CT[2]
|
rs774739614
|
|
|
NM_023110.3(FGFR1):c.1431-7C>T
|
|
|
|
NM_023110.3(FGFR1):c.1443C>G (p.Gly481=)
|
rs2150658041
|
|
|
NM_023110.3(FGFR1):c.1443C>T (p.Gly481=)
|
|
|
|
NM_023110.3(FGFR1):c.1473G>A (p.Gln491=)
|
|
|
|
NM_023110.3(FGFR1):c.1494C>T (p.Ile498=)
|
|
|
|
NM_023110.3(FGFR1):c.1509C>T (p.Asp503=)
|
|
|
|
NM_023110.3(FGFR1):c.1552+12T>C
|
rs777138222
|
|
|
NM_023110.3(FGFR1):c.1552+8A>G
|
|
|
|
NM_023110.3(FGFR1):c.1553-14C>T
|
|
|
|
NM_023110.3(FGFR1):c.1617G>A (p.Gly539=)
|
|
|
|
NM_023110.3(FGFR1):c.162C>G (p.Arg54=)
|
|
|
|
NM_023110.3(FGFR1):c.1663+20G>A
|
|
|
|
NM_023110.3(FGFR1):c.1664-18C>T
|
|
|
|
NM_023110.3(FGFR1):c.1680C>T (p.Ile560=)
|
rs1019589019
|
|
|
NM_023110.3(FGFR1):c.1686G>A (p.Glu562=)
|
|
|
|
NM_023110.3(FGFR1):c.1689T>C (p.Tyr563=)
|
rs2150591250
|
|
|
NM_023110.3(FGFR1):c.1716C>T (p.Tyr572=)
|
|
|
|
NM_023110.3(FGFR1):c.1731G>A (p.Arg577=)
|
|
|
|
NM_023110.3(FGFR1):c.1770C>T (p.Asn590=)
|
rs2150585961
|
|
|
NM_023110.3(FGFR1):c.1815C>T (p.Tyr605=)
|
rs374740971
|
|
|
NM_023110.3(FGFR1):c.182T>C (p.Val61Ala)
|
|
|
|
NM_023110.3(FGFR1):c.1845C>A (p.Ala615=)
|
|
|
|
NM_023110.3(FGFR1):c.1854+14A>C
|
|
|
|
NM_023110.3(FGFR1):c.1854+17C>T
|
|
|
|
NM_023110.3(FGFR1):c.1855-14_1855-11del
|
|
|
|
NM_023110.3(FGFR1):c.1855-5C>T
|
|
|
|
NM_023110.3(FGFR1):c.1855-8T>C
|
|
|
|
NM_023110.3(FGFR1):c.1875A>G (p.Ala625=)
|
|
|
|
NM_023110.3(FGFR1):c.1932C>T (p.Leu644=)
|
|
|
|
NM_023110.3(FGFR1):c.1977+12C>G
|
|
|
|
NM_023110.3(FGFR1):c.1977+15G>A
|
|
|
|
NM_023110.3(FGFR1):c.1977+19G>A
|
|
|
|
NM_023110.3(FGFR1):c.1977+20C>T
|
|
|
|
NM_023110.3(FGFR1):c.1978-15C>T
|
|
|
|
NM_023110.3(FGFR1):c.1978-17C>T
|
|
|
|
NM_023110.3(FGFR1):c.2046T>C (p.Asp682=)
|
|
|
|
NM_023110.3(FGFR1):c.2048+13T>C
|
|
|
|
NM_023110.3(FGFR1):c.2061G>C (p.Gly687=)
|
|
|
|
NM_023110.3(FGFR1):c.207C>T (p.Asp69=)
|
|
|
|
NM_023110.3(FGFR1):c.2086C>T (p.Leu696=)
|
|
|
|
NM_023110.3(FGFR1):c.2163G>A (p.Lys721=)
|
|
|
|
NM_023110.3(FGFR1):c.2186+11G>A
|
|
|
|
NM_023110.3(FGFR1):c.2186+12_2186+14del
|
rs1218085532
|
|
|
NM_023110.3(FGFR1):c.2186+20G>A
|
|
|
|
NM_023110.3(FGFR1):c.2186+9G>A
|
|
|
|
NM_023110.3(FGFR1):c.2187-15A>G
|
|
|
|
NM_023110.3(FGFR1):c.2187-18C>G
|
rs2150525040
|
|
|
NM_023110.3(FGFR1):c.2187-19C>A
|
rs376583717
|
|
|
NM_023110.3(FGFR1):c.2187-19C>T
|
rs376583717
|
|
|
NM_023110.3(FGFR1):c.2187-4G>A
|
|
|
|
NM_023110.3(FGFR1):c.222G>A (p.Ala74=)
|
|
|
|
NM_023110.3(FGFR1):c.222G>C (p.Ala74=)
|
rs748896706
|
|
|
NM_023110.3(FGFR1):c.2259C>T (p.Asp753=)
|
|
|
|
NM_023110.3(FGFR1):c.228C>T (p.Ser76=)
|
|
|
|
NM_023110.3(FGFR1):c.2292+12C>T
|
|
|
|
NM_023110.3(FGFR1):c.2292+13G>A
|
|
|
|
NM_023110.3(FGFR1):c.2292+9G>A
|
rs2150517873
|
|
|
NM_023110.3(FGFR1):c.2293-12C>G
|
|
|
|
NM_023110.3(FGFR1):c.2293-12C>T
|
|
|
|
NM_023110.3(FGFR1):c.2367C>T (p.Ser789=)
|
|
|
|
NM_023110.3(FGFR1):c.2370A>G (p.Ser790=)
|
|
|
|
NM_023110.3(FGFR1):c.2382C>T (p.Ser794=)
|
|
|
|
NM_023110.3(FGFR1):c.2406C>T (p.Pro802=)
|
rs573344794
|
|
|
NM_023110.3(FGFR1):c.2430C>T (p.His810=)
|
|
|
|
NM_023110.3(FGFR1):c.2433A>T (p.Pro811=)
|
rs770921947
|
|
|
NM_023110.3(FGFR1):c.262G>T (p.Val88Leu)
|
|
|
|
NM_023110.3(FGFR1):c.279C>G (p.Pro93=)
|
rs781034707
|
|
|
NM_023110.3(FGFR1):c.27C>T (p.Phe9=)
|
|
|
|
NM_023110.3(FGFR1):c.303C>T (p.Cys101=)
|
|
|
|
NM_023110.3(FGFR1):c.311G>A (p.Ser104Asn)
|
|
|
|
NM_023110.3(FGFR1):c.321G>A (p.Ser107=)
|
|
|
|
NM_023110.3(FGFR1):c.330C>T (p.Asp110=)
|
|
|
|
NM_023110.3(FGFR1):c.33T>C (p.Ala11=)
|
|
|
|
NM_023110.3(FGFR1):c.342C>T (p.Phe114=)
|
|
|
|
NM_023110.3(FGFR1):c.358+11A>G
|
|
|
|
NM_023110.3(FGFR1):c.358+18G>A
|
rs375458309
|
|
|
NM_023110.3(FGFR1):c.358+19C>A
|
|
|
|
NM_023110.3(FGFR1):c.358+9C>A
|
|
|
|
NM_023110.3(FGFR1):c.359-15TTC[2]
|
rs768778460
|
|
|
NM_023110.3(FGFR1):c.359-18C>T
|
rs1177584027
|
|
|
NM_023110.3(FGFR1):c.359-5C>G
|
|
|
|
NM_023110.3(FGFR1):c.363T>A (p.Ala121=)
|
|
|
|
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del)
|
rs138489552
|
|
|
NM_023110.3(FGFR1):c.411G>A (p.Glu137=)
|
rs1010621186
|
|
|
NM_023110.3(FGFR1):c.42C>T (p.Val14=)
|
|
|
|
NM_023110.3(FGFR1):c.471C>G (p.Ser157=)
|
rs376497452
|
|
|
NM_023110.3(FGFR1):c.51A>G (p.Thr17=)
|
|
|
|
NM_023110.3(FGFR1):c.597T>C (p.Pro199=)
|
|
|
|
NM_023110.3(FGFR1):c.621+14C>A
|
|
|
|
NM_023110.3(FGFR1):c.621+17G>A
|
|
|
|
NM_023110.3(FGFR1):c.621+18C>A
|
|
|
|
NM_023110.3(FGFR1):c.622-9del
|
|
|
|
NM_023110.3(FGFR1):c.687C>T (p.Thr229=)
|
|
|
|
NM_023110.3(FGFR1):c.711C>T (p.Gly237=)
|
|
|
|
NM_023110.3(FGFR1):c.714C>T (p.Ser238=)
|
rs1586315279
|
|
|
NM_023110.3(FGFR1):c.745+13del
|
|
|
|
NM_023110.3(FGFR1):c.746-13C>T
|
|
|
|
NM_023110.3(FGFR1):c.746-14C>G
|
rs1171714073
|
|
|
NM_023110.3(FGFR1):c.746-14C>T
|
|
|
|
NM_023110.3(FGFR1):c.746-5C>G
|
rs1820095016
|
|
|
NM_023110.3(FGFR1):c.75G>C (p.Pro25=)
|
rs17175757
|
|
|
NM_023110.3(FGFR1):c.789C>T (p.Ala263=)
|
rs780944776
|
|
|
NM_023110.3(FGFR1):c.819G>C (p.Val273=)
|
rs779056585
|
|
|
NM_023110.3(FGFR1):c.849G>A (p.Pro283=)
|
|
|
|
NM_023110.3(FGFR1):c.861C>T (p.Ile287=)
|
rs1370490922
|
|
|
NM_023110.3(FGFR1):c.870A>G (p.Leu290=)
|
rs751538019
|
|
|
NM_023110.3(FGFR1):c.91+16G>C
|
|
|
|
NM_023110.3(FGFR1):c.91+19G>T
|
|
|
|
NM_023110.3(FGFR1):c.91+20C>T
|
|
|
|
NM_023110.3(FGFR1):c.92-13G>T
|
|
|
|
NM_023110.3(FGFR1):c.92-19G>C
|
|
|
|
NM_023110.3(FGFR1):c.92-6C>G
|
|
|
|
NM_023110.3(FGFR1):c.936+13C>T
|
|
|
|
NM_023110.3(FGFR1):c.936+7A>G
|
|
|
|
NM_023110.3(FGFR1):c.937-11G>T
|
|
|
|
NM_023110.3(FGFR1):c.937-17T>C
|
|
|
|
NM_023110.3(FGFR1):c.957C>G (p.Thr319=)
|
|
|
|
NM_023110.3(FGFR1):c.957C>T (p.Thr319=)
|
|
|
|
NM_032043.3(BRIP1):c.1008T>C (p.Asp336=)
|
rs876660706
|
|
|
NM_032043.3(BRIP1):c.1011A>C (p.Ile337=)
|
rs2145338037
|
|
|
NM_032043.3(BRIP1):c.1014A>G (p.Glu338=)
|
rs1490732516
|
|
|
NM_032043.3(BRIP1):c.1017A>G (p.Glu339=)
|
|
|
|
NM_032043.3(BRIP1):c.1026C>T (p.Ser342=)
|
rs1603343281
|
|
|
NM_032043.3(BRIP1):c.102A>G (p.Arg34=)
|
|
|
|
NM_032043.3(BRIP1):c.1032G>A (p.Gly344=)
|
rs1468683560
|
|
|
NM_032043.3(BRIP1):c.1035G>A (p.Lys345=)
|
rs2145336644
|
|
|
NM_032043.3(BRIP1):c.1039C>T (p.Leu347=)
|
rs2145336515
|
|
|
NM_032043.3(BRIP1):c.1041A>G (p.Leu347=)
|
rs1555607724
|
|
|
NM_032043.3(BRIP1):c.1047C>A (p.Ala349=)
|
rs763189201
|
|
|
NM_032043.3(BRIP1):c.1050T>C (p.Cys350=)
|
rs1555607717
|
|
|
NM_032043.3(BRIP1):c.1056T>C (p.Tyr352=)
|
|
|
|
NM_032043.3(BRIP1):c.105A>G (p.Gly35=)
|
rs2145852819
|
|
|
NM_032043.3(BRIP1):c.1065C>T (p.Ala355=)
|
rs1222801209
|
|
|
NM_032043.3(BRIP1):c.1080A>G (p.Gln360=)
|
|
|
|
NM_032043.3(BRIP1):c.1086T>C (p.Ala362=)
|
|
|
|
NM_032043.3(BRIP1):c.108A>G (p.Leu36=)
|
rs774586397
|
|
|
NM_032043.3(BRIP1):c.1092C>T (p.Ile364=)
|
rs1555607674
|
|
|
NM_032043.3(BRIP1):c.1104C>T (p.Pro368=)
|
rs1555607667
|
|
|
NM_032043.3(BRIP1):c.1107C>T (p.Tyr369=)
|
rs1489355776
|
|
|
NM_032043.3(BRIP1):c.1110C>T (p.Asn370=)
|
|
|
|
NM_032043.3(BRIP1):c.1113T>C (p.Tyr371=)
|
rs2145332634
|
|
|
NM_032043.3(BRIP1):c.1116T>A (p.Leu372=)
|
|
|
|
NM_032043.3(BRIP1):c.1116T>C (p.Leu372=)
|
rs2077986700
|
|
|
NM_032043.3(BRIP1):c.1128A>G (p.Gln376=)
|
|
|
|
NM_032043.3(BRIP1):c.1131A>T (p.Ile377=)
|
rs927733243
|
|
|
NM_032043.3(BRIP1):c.1140+10T>C
|
rs1060504332
|
|
|
NM_032043.3(BRIP1):c.1140+10T>G
|
rs1060504332
|
|
|
NM_032043.3(BRIP1):c.1140+11G>T
|
|
|
|
NM_032043.3(BRIP1):c.1140+13G>A
|
|
|
|
NM_032043.3(BRIP1):c.1140+13G>C
|
|
|
|
NM_032043.3(BRIP1):c.1140+7AT[3]
|
|
|
|
NM_032043.3(BRIP1):c.1140+9A>G
|
rs2145330850
|
|
|
NM_032043.3(BRIP1):c.1141-12T>C
|
|
|
|
NM_032043.3(BRIP1):c.1141-14C>A
|
rs2077954619
|
|
|
NM_032043.3(BRIP1):c.1141-14C>T
|
|
|
|
NM_032043.3(BRIP1):c.1141-15T>C
|
rs2145311075
|
|
|
NM_032043.3(BRIP1):c.1141-4A>T
|
rs1226658018
|
|
|
NM_032043.3(BRIP1):c.1141-6T>C
|
rs876661277
|
|
|
NM_032043.3(BRIP1):c.1141-7C>G
|
rs1603342384
|
|
|
NM_032043.3(BRIP1):c.1141-8T>C
|
|
|
|
NM_032043.3(BRIP1):c.1141-9A>G
|
rs1555607258
|
|
|
NM_032043.3(BRIP1):c.114C>T (p.Ser38=)
|
rs2078951392
|
|
|
NM_032043.3(BRIP1):c.1153C>T (p.Leu385=)
|
|
|
|
NM_032043.3(BRIP1):c.1158A>G (p.Lys386=)
|
rs1567829719
|
|
|
NM_032043.3(BRIP1):c.1161A>G (p.Glu387=)
|
rs2145309623
|
|
|
NM_032043.3(BRIP1):c.1164G>A (p.Gln388=)
|
rs1603342334
|
|
|
NM_032043.3(BRIP1):c.1167T>C (p.Val389=)
|
|
|
|
NM_032043.3(BRIP1):c.1170C>T (p.Val390=)
|
rs754755989
|
|
|
NM_032043.3(BRIP1):c.1182A>G (p.Glu394=)
|
rs1555607195
|
|
|
NM_032043.3(BRIP1):c.1188T>C (p.His396=)
|
rs1555607189
|
|
|
NM_032043.3(BRIP1):c.1200C>T (p.Asp400=)
|
rs1555607173
|
|
|
NM_032043.3(BRIP1):c.1206T>C (p.Ala402=)
|
rs1203573533
|
|
|
NM_032043.3(BRIP1):c.1207C>A (p.Arg403=)
|
rs369631413
|
|
|
NM_032043.3(BRIP1):c.1209G>A (p.Arg403=)
|
rs2077951084
|
|
|
NM_032043.3(BRIP1):c.1212A>G (p.Glu404=)
|
rs2145306711
|
|
|
NM_032043.3(BRIP1):c.1224C>T (p.Tyr408=)
|
|
|
|
NM_032043.3(BRIP1):c.1227T>C (p.Ser409=)
|
rs1555607150
|
|
|
NM_032043.3(BRIP1):c.1230A>C (p.Val410=)
|
rs2145305804
|
|
|
NM_032043.3(BRIP1):c.1233A>G (p.Thr411=)
|
|
|
|
NM_032043.3(BRIP1):c.1236A>G (p.Glu412=)
|
|
|
|
NM_032043.3(BRIP1):c.1239T>C (p.Val413=)
|
|
|
|
NM_032043.3(BRIP1):c.123T>C (p.His41=)
|
|
|
|
NM_032043.3(BRIP1):c.1257G>T (p.Arg419=)
|
|
|
|
NM_032043.3(BRIP1):c.1263A>G (p.Glu421=)
|
rs864622423
|
|
|
NM_032043.3(BRIP1):c.1264C>T (p.Leu422=)
|
rs768633507
|
|
|
NM_032043.3(BRIP1):c.1266A>C (p.Leu422=)
|
rs1484320639
|
|
|
NM_032043.3(BRIP1):c.1266A>T (p.Leu422=)
|
rs1484320639
|
|
|
NM_032043.3(BRIP1):c.1269T>C (p.Asp423=)
|
rs954885174
|
|
|
NM_032043.3(BRIP1):c.1272T>C (p.Ser424=)
|
|
|
|
NM_032043.3(BRIP1):c.127T>C (p.Leu43=)
|
rs1603367726
|
|
|
NM_032043.3(BRIP1):c.1287T>C (p.Asn429=)
|
rs863224431
|
|
|
NM_032043.3(BRIP1):c.1296G>A (p.Lys432=)
|
rs757400610
|
|
|
NM_032043.3(BRIP1):c.1302T>C (p.Asp434=)
|
|
|
|
NM_032043.3(BRIP1):c.1305T>C (p.His435=)
|
rs1352266926
|
|
|
NM_032043.3(BRIP1):c.1308A>G (p.Glu436=)
|
rs2145301245
|
|
|
NM_032043.3(BRIP1):c.130T>C (p.Leu44=)
|
rs758270108
|
|
|
NM_032043.3(BRIP1):c.1311C>T (p.Pro437=)
|
rs1060504327
|
|
|
NM_032043.3(BRIP1):c.1315C>A (p.Arg439=)
|
rs587780226
|
|
|
NM_032043.3(BRIP1):c.1320T>C (p.Ala440=)
|
|
|
|
NM_032043.3(BRIP1):c.1323G>A (p.Val441=)
|
|
|
|
NM_032043.3(BRIP1):c.1340+11T>C
|
|
|
|
NM_032043.3(BRIP1):c.1340+13G>A
|
rs762531109
|
|
|
NM_032043.3(BRIP1):c.1340+13G>T
|
|
|
|
NM_032043.3(BRIP1):c.1340+14T>C
|
rs1057522789
|
|
|
NM_032043.3(BRIP1):c.1340+17A>T
|
|
|
|
NM_032043.3(BRIP1):c.1340+18T>A
|
|
|
|
NM_032043.3(BRIP1):c.1340+19T>C
|
rs2077944993
|
|
|
NM_032043.3(BRIP1):c.1340+20A>G
|
rs2145298307
|
|
|
NM_032043.3(BRIP1):c.1340+7_1340+9del
|
rs1413352933
|
|
|
NM_032043.3(BRIP1):c.1340+8G>T
|
rs2145298781
|
|
|
NM_032043.3(BRIP1):c.1340+9A>T
|
rs376487588
|
|
|
NM_032043.3(BRIP1):c.1341-16T>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-17G>T
|
rs2145245872
|
|
|
NM_032043.3(BRIP1):c.1341-17_1341-13del
|
rs2077857551
|
|
|
NM_032043.3(BRIP1):c.1341-18del
|
|
|
|
NM_032043.3(BRIP1):c.1341-19T>C
|
|
|
|
NM_032043.3(BRIP1):c.1341-20del
|
rs2145245949
|
|
|
NM_032043.3(BRIP1):c.1341-7A>G
|
rs2145245603
|
|
|
NM_032043.3(BRIP1):c.1341-8_1341-4del
|
rs1555605965
|
|
|
NM_032043.3(BRIP1):c.1341-8del
|
rs1567825391
|
|
|
NM_032043.3(BRIP1):c.1347A>G (p.Leu449=)
|
|
|
|
NM_032043.3(BRIP1):c.1359T>C (p.Ala453=)
|
rs2145244570
|
|
|
NM_032043.3(BRIP1):c.1362A>G (p.Glu454=)
|
rs786202553
|
|
|
NM_032043.3(BRIP1):c.1368T>C (p.Leu456=)
|
rs878855138
|
|
|
NM_032043.3(BRIP1):c.1371A>G (p.Val457=)
|
rs935612010
|
|
|
NM_032043.3(BRIP1):c.1377A>G (p.Arg459=)
|
rs780310294
|
|
|
NM_032043.3(BRIP1):c.1380T>C (p.Asp460=)
|
rs758735370
|
|
|
NM_032043.3(BRIP1):c.1383T>C (p.Tyr461=)
|
rs587780875
|
|
|
NM_032043.3(BRIP1):c.1410A>C (p.Gly470=)
|
|
|
|
NM_032043.3(BRIP1):c.1410A>G (p.Gly470=)
|
|
|
|
NM_032043.3(BRIP1):c.1413T>C (p.Asn471=)
|
rs1555605904
|
|
|
NM_032043.3(BRIP1):c.141C>T (p.Pro47=)
|
|
|
|
NM_032043.3(BRIP1):c.1422C>T (p.Leu474=)
|
rs1555605898
|
|
|
NM_032043.3(BRIP1):c.1425A>G (p.Leu475=)
|
rs2145241141
|
|
|
NM_032043.3(BRIP1):c.1428T>C (p.Thr476=)
|
rs1603340327
|
|
|
NM_032043.3(BRIP1):c.1428T>G (p.Thr476=)
|
rs1603340327
|
|
|
NM_032043.3(BRIP1):c.1446C>T (p.Ile482=)
|
rs759360709
|
|
|
NM_032043.3(BRIP1):c.1449C>T (p.Thr483=)
|
rs2077853064
|
|
|
NM_032043.3(BRIP1):c.144A>G (p.Thr48=)
|
rs1423058475
|
|
|
NM_032043.3(BRIP1):c.1464C>T (p.Pro488=)
|
rs1603340284
|
|
|
NM_032043.3(BRIP1):c.1473+13_1473+14del
|
rs876660968
|
|
|
NM_032043.3(BRIP1):c.1473+14T>C
|
rs1555605845
|
|
|
NM_032043.3(BRIP1):c.1473+14T>G
|
|
|
|
NM_032043.3(BRIP1):c.1473+15C>G
|
rs2077851707
|
|
|
NM_032043.3(BRIP1):c.1473+16T>C
|
rs1555605844
|
|
|
NM_032043.3(BRIP1):c.1473+3A>G
|
|
|
|
NM_032043.3(BRIP1):c.1473+7T>C
|
|
|
|
NM_032043.3(BRIP1):c.1473+8A>G
|
|
|
|
NM_032043.3(BRIP1):c.1473+8A>T
|
|
|
|
NM_032043.3(BRIP1):c.1474-12A>G
|
|
|
|
NM_032043.3(BRIP1):c.1474-12A>T
|
|
|
|
NM_032043.3(BRIP1):c.1474-14G>A
|
rs2077673537
|
|
|
NM_032043.3(BRIP1):c.1474-14G>T
|
|
|
|
NM_032043.3(BRIP1):c.1474-15G>A
|
|
|
|
NM_032043.3(BRIP1):c.1474-16T>C
|
|
|
|
NM_032043.3(BRIP1):c.1474-17A>G
|
|
|
|
NM_032043.3(BRIP1):c.1474-17A>T
|
rs762049694
|
|
|
NM_032043.3(BRIP1):c.1474-19A>C
|
|
|
|
NM_032043.3(BRIP1):c.1474-20A>C
|
|
|
|
NM_032043.3(BRIP1):c.1474-20A>T
|
rs1462969643
|
|
|
NM_032043.3(BRIP1):c.1474-4A>G
|
rs2145142626
|
|
|
NM_032043.3(BRIP1):c.1474-7C>T
|
rs886041146
|
|
|
NM_032043.3(BRIP1):c.1474-9T>G
|
rs863224432
|
|
|
NM_032043.3(BRIP1):c.1479T>C (p.His493=)
|
rs2077672800
|
|
|
NM_032043.3(BRIP1):c.147A>G (p.Gly49=)
|
rs2145851438
|
|
|
NM_032043.3(BRIP1):c.1485T>G (p.Ser495=)
|
rs370658123
|
|
|
NM_032043.3(BRIP1):c.1503G>A (p.Glu501=)
|
|
|
|
NM_032043.3(BRIP1):c.1506A>G (p.Glu502=)
|
rs1057523215
|
|
|
NM_032043.3(BRIP1):c.1509A>G (p.Lys503=)
|
rs1443429619
|
|
|
NM_032043.3(BRIP1):c.1512C>A (p.Ile504=)
|
rs876660478
|
|
|
NM_032043.3(BRIP1):c.1515A>G (p.Ser505=)
|
rs2145139643
|
|
|
NM_032043.3(BRIP1):c.1518A>G (p.Pro506=)
|
rs1603337002
|
|
|
NM_032043.3(BRIP1):c.1524T>C (p.Tyr508=)
|
rs1060504326
|
|
|
NM_032043.3(BRIP1):c.1527T>C (p.Gly509=)
|
|
|
|
NM_032043.3(BRIP1):c.1533G>A (p.Glu511=)
|
rs1418736430
|
|
|
NM_032043.3(BRIP1):c.1536G>A (p.Glu512=)
|
rs876658531
|
|
|
NM_032043.3(BRIP1):c.153A>G (p.Gly51=)
|
rs1603367703
|
|
|
NM_032043.3(BRIP1):c.1566A>G (p.Ser522=)
|
rs985465808
|
|
|
NM_032043.3(BRIP1):c.1569T>C (p.Thr523=)
|
rs2145137253
|
|
|
NM_032043.3(BRIP1):c.156A>G (p.Lys52=)
|
rs1603367700
|
|
|
NM_032043.3(BRIP1):c.1581T>G (p.Leu527=)
|
rs2145136829
|
|
|
NM_032043.3(BRIP1):c.1602T>C (p.Leu534=)
|
rs974139602
|
|
|
NM_032043.3(BRIP1):c.1605C>T (p.Asp535=)
|
rs56024614
|
|
|
NM_032043.3(BRIP1):c.1608T>C (p.Tyr536=)
|
rs1603336910
|
|
|
NM_032043.3(BRIP1):c.1614T>C (p.Phe538=)
|
rs2145135352
|
|
|
NM_032043.3(BRIP1):c.1615A>C (p.Arg539=)
|
rs1555603468
|
|
|
NM_032043.3(BRIP1):c.1617G>A (p.Arg539=)
|
rs2145135194
|
|
|
NM_032043.3(BRIP1):c.1628+12T>C
|
|
|
|
NM_032043.3(BRIP1):c.1628+14A>G
|
|
|
|
NM_032043.3(BRIP1):c.1628+15C>T
|
rs751454994
|
|
|
NM_032043.3(BRIP1):c.1628+17A>G
|
|
|
|
NM_032043.3(BRIP1):c.1628+19T>C
|
|
|
|
NM_032043.3(BRIP1):c.1628+7G>A
|
rs2077666975
|
|
|
NM_032043.3(BRIP1):c.1628+9A>G
|
|
|
|
NM_032043.3(BRIP1):c.1628+9A>T
|
rs2145134529
|
|
|
NM_032043.3(BRIP1):c.1629-13T>C
|
rs2145098509
|
|
|
NM_032043.3(BRIP1):c.1629-14T>G
|
rs1057523831
|
|
|
NM_032043.3(BRIP1):c.1629-19G>T
|
|
|
|
NM_032043.3(BRIP1):c.1629-4C>A
|
|
|
|
NM_032043.3(BRIP1):c.1629-4C>T
|
rs747704211
|
|
|
NM_032043.3(BRIP1):c.1629-6A>G
|
rs755767691
|
|
|
NM_032043.3(BRIP1):c.162A>G (p.Leu54=)
|
|
|
|
NM_032043.3(BRIP1):c.1647A>G (p.Lys549=)
|
|
|
|
NM_032043.3(BRIP1):c.1653G>A (p.Ala551=)
|
rs750213758
|
|
|
NM_032043.3(BRIP1):c.1653G>T (p.Ala551=)
|
rs750213758
|
|
|
NM_032043.3(BRIP1):c.1659A>G (p.Gln553=)
|
rs876660693
|
|
|
NM_032043.3(BRIP1):c.165C>T (p.Ala55=)
|
rs1603367680
|
|
|
NM_032043.3(BRIP1):c.1662G>A (p.Gln554=)
|
|
|
|
NM_032043.3(BRIP1):c.1668C>T (p.Tyr556=)
|
rs1416513467
|
|
|
NM_032043.3(BRIP1):c.1677A>C (p.Thr559=)
|
|
|
|
NM_032043.3(BRIP1):c.1680T>C (p.Asn560=)
|
rs2145095721
|
|
|
NM_032043.3(BRIP1):c.1683G>A (p.Gln561=)
|
|
|
|
NM_032043.3(BRIP1):c.1686T>A (p.Ile562=)
|
|
|
|
NM_032043.3(BRIP1):c.1686T>C (p.Ile562=)
|
rs1374464175
|
|
|
NM_032043.3(BRIP1):c.1689T>C (p.Asp563=)
|
rs1603334654
|
|
|
NM_032043.3(BRIP1):c.168A>G (p.Leu56=)
|
rs2145850652
|
|
|
NM_032043.3(BRIP1):c.1692T>C (p.Ile564=)
|
rs786202979
|
|
|
NM_032043.3(BRIP1):c.1707G>A (p.Gly569=)
|
rs878855141
|
|
|
NM_032043.3(BRIP1):c.1713G>A (p.Leu571=)
|
|
|
|
NM_032043.3(BRIP1):c.1728T>C (p.Asn576=)
|
rs1555602531
|
|
|
NM_032043.3(BRIP1):c.1734A>G (p.Lys578=)
|
rs786202592
|
|
|
NM_032043.3(BRIP1):c.1737T>G (p.Arg579=)
|
|
|
|
NM_032043.3(BRIP1):c.1740A>G (p.Ser580=)
|
rs2145092732
|
|
|
NM_032043.3(BRIP1):c.1758T>C (p.Val586=)
|
rs863224433
|
|
|
NM_032043.3(BRIP1):c.1761T>C (p.His587=)
|
rs1603334313
|
|
|
NM_032043.3(BRIP1):c.1767A>G (p.Leu589=)
|
rs1057523711
|
|
|
NM_032043.3(BRIP1):c.1770C>T (p.Asn590=)
|
|
|
|
NM_032043.3(BRIP1):c.1773T>C (p.Phe591=)
|
rs1057523507
|
|
|
NM_032043.3(BRIP1):c.1779C>T (p.Cys593=)
|
|
|
|
NM_032043.3(BRIP1):c.1785T>C (p.Asn595=)
|
rs1603334224
|
|
|
NM_032043.3(BRIP1):c.1788A>G (p.Pro596=)
|
rs1555602434
|
|
|
NM_032043.3(BRIP1):c.1791T>C (p.Ala597=)
|
|
|
|
NM_032043.3(BRIP1):c.1791T>G (p.Ala597=)
|
rs1060504323
|
|
|
NM_032043.3(BRIP1):c.1794+10T>A
|
rs763543426
|
|
|
NM_032043.3(BRIP1):c.1794+10T>C
|
rs763543426
|
|
|
NM_032043.3(BRIP1):c.1794+11C>T
|
|
|
|
NM_032043.3(BRIP1):c.1794+12A>G
|
rs773521085
|
|
|
NM_032043.3(BRIP1):c.1794+13T>C
|
|
|
|
NM_032043.3(BRIP1):c.1794+14G>C
|
|
|
|
NM_032043.3(BRIP1):c.1794+15T>C
|
|
|
|
NM_032043.3(BRIP1):c.1794+19T>G
|
|
|
|
NM_032043.3(BRIP1):c.1794+7T>G
|
rs2145089607
|
|
|
NM_032043.3(BRIP1):c.1794+8C>T
|
|
|
|
NM_032043.3(BRIP1):c.1795-12G>A
|
rs762289143
|
|
|
NM_032043.3(BRIP1):c.1795-12_1795-10del
|
rs1475317357
|
|
|
NM_032043.3(BRIP1):c.1795-15G>A
|
|
|
|
NM_032043.3(BRIP1):c.1795-17A>T
|
|
|
|
NM_032043.3(BRIP1):c.1795-18_1795-6del
|
rs1603333451
|
|
|
NM_032043.3(BRIP1):c.1795-19T>C
|
|
|
|
NM_032043.3(BRIP1):c.1795-20C>A
|
rs750994596
|
|
|
NM_032043.3(BRIP1):c.1795-7C>A
|
|
|
|
NM_032043.3(BRIP1):c.1795-8T>A
|
rs1012425653
|
|
|
NM_032043.3(BRIP1):c.1797C>T (p.Ala599=)
|
rs771672834
|
|
|
NM_032043.3(BRIP1):c.1806T>C (p.Asp602=)
|
rs878855142
|
|
|
NM_032043.3(BRIP1):c.1809T>C (p.Ile603=)
|
rs370393808
|
|
|
NM_032043.3(BRIP1):c.180T>A (p.Ala60=)
|
rs2078949295
|
|
|
NM_032043.3(BRIP1):c.1824G>A (p.Gln608=)
|
|
|
|
NM_032043.3(BRIP1):c.1827C>G (p.Thr609=)
|
rs2145080349
|
|
|
NM_032043.3(BRIP1):c.1836G>A (p.Leu612=)
|
rs1464898721
|
|
|
NM_032043.3(BRIP1):c.1839A>G (p.Thr613=)
|
rs1603333264
|
|
|
NM_032043.3(BRIP1):c.183A>G (p.Leu61=)
|
rs1555618384
|
|
|
NM_032043.3(BRIP1):c.1851A>G (p.Leu617=)
|
|
|
|
NM_032043.3(BRIP1):c.1857A>C (p.Pro619=)
|
rs1603333212
|
|
|
NM_032043.3(BRIP1):c.186A>G (p.Ala62=)
|
rs764252214
|
|
|
NM_032043.3(BRIP1):c.1878A>G (p.Glu626=)
|
|
|
|
NM_032043.3(BRIP1):c.1896T>C (p.Thr632=)
|
rs2077595308
|
|
|
NM_032043.3(BRIP1):c.1903C>T (p.Leu635=)
|
rs754280136
|
|
|
NM_032043.3(BRIP1):c.1908G>A (p.Glu636=)
|
rs1555602134
|
|
|
NM_032043.3(BRIP1):c.1911T>C (p.Ala637=)
|
rs1603333046
|
|
|
NM_032043.3(BRIP1):c.1914T>C (p.Asn638=)
|
rs764456240
|
|
|
NM_032043.3(BRIP1):c.1917T>C (p.His639=)
|
rs763534423
|
|
|
NM_032043.3(BRIP1):c.1920C>A (p.Ile640=)
|
rs2145074950
|
|
|
NM_032043.3(BRIP1):c.1926A>G (p.Lys642=)
|
rs2145074724
|
|
|
NM_032043.3(BRIP1):c.192A>G (p.Gln64=)
|
rs2145849875
|
|
|
NM_032043.3(BRIP1):c.1935+11G>T
|
rs79121306
|
|
|
NM_032043.3(BRIP1):c.1935+11_1935+12del
|
|
|
|
NM_032043.3(BRIP1):c.1935+11del
|
|
|
|
NM_032043.3(BRIP1):c.1935+13T>G
|
rs1555602100
|
|
|
NM_032043.3(BRIP1):c.1935+14T>C
|
|
|
|
NM_032043.3(BRIP1):c.1935+16T>C
|
rs2145073369
|
|
|
NM_032043.3(BRIP1):c.1935+17T>C
|
|
|
|
NM_032043.3(BRIP1):c.1935+17T>G
|
rs1268001607
|
|
|
NM_032043.3(BRIP1):c.1935+7T>A
|
|
|
|
NM_032043.3(BRIP1):c.1935+8G>C
|
|
|
|
NM_032043.3(BRIP1):c.1936-12T>C
|
|
|
|
NM_032043.3(BRIP1):c.1936-13A>T
|
|
|
|
NM_032043.3(BRIP1):c.1936-18G>A
|
rs2145035153
|
|
|
NM_032043.3(BRIP1):c.1936-19T>C
|
|
|
|
NM_032043.3(BRIP1):c.1936-28_1936-20dup
|
rs2145035178
|
|
|
NM_032043.3(BRIP1):c.1936-5T>A
|
rs769767296
|
|
|
NM_032043.3(BRIP1):c.1936-7A>G
|
rs1427111542
|
|
|
NM_032043.3(BRIP1):c.1950C>T (p.Thr650=)
|
rs1603328999
|
|
|
NM_032043.3(BRIP1):c.1953T>C (p.Ile651=)
|
rs754400631
|
|
|
NM_032043.3(BRIP1):c.1956G>A (p.Gly652=)
|
rs778250103
|
|
|
NM_032043.3(BRIP1):c.1956G>T (p.Gly652=)
|
rs778250103
|
|
|
NM_032043.3(BRIP1):c.1962C>G (p.Gly654=)
|
rs786201877
|
|
|
NM_032043.3(BRIP1):c.1962C>T (p.Gly654=)
|
rs786201877
|
|
|
NM_032043.3(BRIP1):c.1968G>A (p.Lys656=)
|
|
|
|
NM_032043.3(BRIP1):c.1971T>G (p.Gly657=)
|
rs1555601157
|
|
|
NM_032043.3(BRIP1):c.1972C>A (p.Arg658=)
|
rs786203170
|
|
|
NM_032043.3(BRIP1):c.1974G>T (p.Arg658=)
|
rs876658617
|
|
|
NM_032043.3(BRIP1):c.1983T>C (p.Cys661=)
|
rs1603328829
|
|
|
NM_032043.3(BRIP1):c.1989C>G (p.Thr663=)
|
rs376628979
|
|
|
NM_032043.3(BRIP1):c.1998T>C (p.Asn666=)
|
rs876659106
|
|
|
NM_032043.3(BRIP1):c.2001T>G (p.Thr667=)
|
|
|
|
NM_032043.3(BRIP1):c.2010T>C (p.Phe670=)
|
rs762535496
|
|
|
NM_032043.3(BRIP1):c.2019A>G (p.Gln673=)
|
rs1008150951
|
|
|
NM_032043.3(BRIP1):c.201T>C (p.Leu67=)
|
rs763819127
|
|
|
NM_032043.3(BRIP1):c.2028G>A (p.Val676=)
|
rs786202395
|
|
|
NM_032043.3(BRIP1):c.2028G>C (p.Val676=)
|
rs786202395
|
|
|
NM_032043.3(BRIP1):c.2040G>A (p.Leu680=)
|
rs2145028811
|
|
|
NM_032043.3(BRIP1):c.2046T>C (p.Ser682=)
|
rs2145028480
|
|
|
NM_032043.3(BRIP1):c.2049G>A (p.Val683=)
|
rs1228288888
|
|
|
NM_032043.3(BRIP1):c.204T>C (p.Ser68=)
|
rs2078948550
|
|
|
NM_032043.3(BRIP1):c.205+10del
|
rs2078948200
|
|
|
NM_032043.3(BRIP1):c.205+13T>G
|
|
|
|
NM_032043.3(BRIP1):c.205+17T>G
|
|
|
|
NM_032043.3(BRIP1):c.205+18A>G
|
rs1555618353
|
|
|
NM_032043.3(BRIP1):c.205+20C>A
|
|
|
|
NM_032043.3(BRIP1):c.205+6T>A
|
rs1555618360
|
|
|
NM_032043.3(BRIP1):c.205+6T>C
|
rs1555618360
|
|
|
NM_032043.3(BRIP1):c.205+6_205+7insTATCTTGA
|
rs2078948236
|
|
|
NM_032043.3(BRIP1):c.205+8G>A
|
rs2145849179
|
|
|
NM_032043.3(BRIP1):c.2058T>A (p.Thr686=)
|
|
|
|
NM_032043.3(BRIP1):c.2058T>C (p.Thr686=)
|
rs1603328526
|
|
|
NM_032043.3(BRIP1):c.206-10T>A
|
|
|
|
NM_032043.3(BRIP1):c.206-14T>A
|
rs914741353
|
|
|
NM_032043.3(BRIP1):c.206-14T>C
|
rs914741353
|
|
|
NM_032043.3(BRIP1):c.206-16G>A
|
|
|
|
NM_032043.3(BRIP1):c.206-17T>C
|
rs1567875100
|
|
|
NM_032043.3(BRIP1):c.206-18A>T
|
|
|
|
NM_032043.3(BRIP1):c.206-6T>A
|
rs1555617938
|
|
|
NM_032043.3(BRIP1):c.206-8A>C
|
|
|
|
NM_032043.3(BRIP1):c.206-8A>G
|
rs2145831898
|
|
|
NM_032043.3(BRIP1):c.206-9C>A
|
rs1193647766
|
|
|
NM_032043.3(BRIP1):c.206-9C>T
|
|
|
|
NM_032043.3(BRIP1):c.2079T>C (p.Cys693=)
|
rs2145026472
|
|
|
NM_032043.3(BRIP1):c.207G>A (p.Gly69=)
|
rs2078911284
|
|
|
NM_032043.3(BRIP1):c.2085G>A (p.Leu695=)
|
rs1555601008
|
|
|
NM_032043.3(BRIP1):c.2088A>G (p.Pro696=)
|
|
|
|
NM_032043.3(BRIP1):c.2091T>C (p.Ser697=)
|
rs2077532892
|
|
|
NM_032043.3(BRIP1):c.2094C>T (p.Tyr698=)
|
rs1603328406
|
|
|
NM_032043.3(BRIP1):c.2097+10T>C
|
rs2145024802
|
|
|
NM_032043.3(BRIP1):c.2097+13T>A
|
|
|
|
NM_032043.3(BRIP1):c.2097+14T>C
|
rs2145024654
|
|
|
NM_032043.3(BRIP1):c.2097+14T>G
|
|
|
|
NM_032043.3(BRIP1):c.2097+14del
|
|
|
|
NM_032043.3(BRIP1):c.2097+15A>T
|
|
|
|
NM_032043.3(BRIP1):c.2097+15_2097+17del
|
|
|
|
NM_032043.3(BRIP1):c.2097+17T>C
|
|
|
|
NM_032043.3(BRIP1):c.2097+17T>G
|
rs779183944
|
|
|
NM_032043.3(BRIP1):c.2097+18G>T
|
rs2077532129
|
|
|
NM_032043.3(BRIP1):c.2097+7G>C
|
rs4988352
|
|
|
NM_032043.3(BRIP1):c.2097+7del
|
|
|
|
NM_032043.3(BRIP1):c.2097+8A>G
|
rs730881642
|
|
|
NM_032043.3(BRIP1):c.2098-10C>A
|
rs864622767
|
|
|
NM_032043.3(BRIP1):c.2098-10C>T
|
rs864622767
|
|
|
NM_032043.3(BRIP1):c.2098-11C>A
|
|
|
|
NM_032043.3(BRIP1):c.2098-11C>T
|
|
|
|
NM_032043.3(BRIP1):c.2098-13T>G
|
rs2077035315
|
|
|
NM_032043.3(BRIP1):c.2098-14T>C
|
|
|
|
NM_032043.3(BRIP1):c.2098-16T>C
|
rs2144702212
|
|
|
NM_032043.3(BRIP1):c.2098-17T>A
|
rs1555591574
|
|
|
NM_032043.3(BRIP1):c.2098-17T>C
|
rs1555591574
|
|
|
NM_032043.3(BRIP1):c.2098-3del
|
rs1603304671
|
|
|
NM_032043.3(BRIP1):c.2098-6C>T
|
rs2144701935
|
|
|
NM_032043.3(BRIP1):c.2098-8C>T
|
rs917048033
|
|
|
NM_032043.3(BRIP1):c.2103A>G (p.Leu701=)
|
|
|
|
NM_032043.3(BRIP1):c.2109A>G (p.Lys703=)
|
rs2077034490
|
|
|
NM_032043.3(BRIP1):c.2110T>C (p.Leu704=)
|
|
|
|
NM_032043.3(BRIP1):c.2121T>A (p.Arg707=)
|
|
|
|
NM_032043.3(BRIP1):c.2127C>G (p.Leu709=)
|
rs1060504325
|
|
|
NM_032043.3(BRIP1):c.2127C>T (p.Leu709=)
|
rs1060504325
|
|
|
NM_032043.3(BRIP1):c.2130T>C (p.Ser710=)
|
rs1555591497
|
|
|
NM_032043.3(BRIP1):c.2130T>G (p.Ser710=)
|
|
|
|
NM_032043.3(BRIP1):c.213A>G (p.Pro71=)
|
rs1471650548
|
|
|
NM_032043.3(BRIP1):c.2149C>T (p.Leu717=)
|
rs1555591473
|
|
|
NM_032043.3(BRIP1):c.2154G>A (p.Glu718=)
|
rs1057523978
|
|
|
NM_032043.3(BRIP1):c.2160G>A (p.Val720=)
|
rs1603304594
|
|
|
NM_032043.3(BRIP1):c.2163G>A (p.Lys721=)
|
|
|
|
NM_032043.3(BRIP1):c.2166A>G (p.Thr722=)
|
rs2144698611
|
|
|
NM_032043.3(BRIP1):c.2169C>T (p.Val723=)
|
rs749460936
|
|
|
NM_032043.3(BRIP1):c.2175A>G (p.Val725=)
|
|
|
|
NM_032043.3(BRIP1):c.2184G>A (p.Gln728=)
|
|
|
|
NM_032043.3(BRIP1):c.219T>C (p.Asp73=)
|
rs1603366434
|
|
|
NM_032043.3(BRIP1):c.2211A>G (p.Glu737=)
|
rs1603304536
|
|
|
NM_032043.3(BRIP1):c.2212T>C (p.Leu738=)
|
rs1567781239
|
|
|
NM_032043.3(BRIP1):c.2214A>G (p.Leu738=)
|
|
|
|
NM_032043.3(BRIP1):c.2215C>T (p.Leu739=)
|
rs1555591374
|
|
|
NM_032043.3(BRIP1):c.2223G>T (p.Val741=)
|
rs1057522996
|
|
|
NM_032043.3(BRIP1):c.222G>A (p.Glu74=)
|
rs1603366432
|
|
|
NM_032043.3(BRIP1):c.2238C>A (p.Ile746=)
|
rs876660416
|
|
|
NM_032043.3(BRIP1):c.2238C>T (p.Ile746=)
|
rs876660416
|
|
|
NM_032043.3(BRIP1):c.2247A>G (p.Lys749=)
|
rs587782556
|
|
|
NM_032043.3(BRIP1):c.2250A>C (p.Gly750=)
|
rs1195197229
|
|
|
NM_032043.3(BRIP1):c.2257+11A>G
|
rs1213506782
|
|
|
NM_032043.3(BRIP1):c.2257+11del
|
rs2144694434
|
|
|
NM_032043.3(BRIP1):c.2257+12_2257+17del
|
|
|
|
NM_032043.3(BRIP1):c.2257+13T>C
|
|
|
|
NM_032043.3(BRIP1):c.2257+15T>C
|
rs775380026
|
|
|
NM_032043.3(BRIP1):c.2257+19A>G
|
rs77851913
|
|
|
NM_032043.3(BRIP1):c.2257+19A>T
|
rs77851913
|
|
|
NM_032043.3(BRIP1):c.2257+20T>C
|
|
|
|
NM_032043.3(BRIP1):c.2257+7G>A
|
rs2144694497
|
|
|
NM_032043.3(BRIP1):c.2257+8G>T
|
rs2077029126
|
|
|
NM_032043.3(BRIP1):c.2258-12C>G
|
rs2144680873
|
|
|
NM_032043.3(BRIP1):c.2258-13T>C
|
rs1567779896
|
|
|
NM_032043.3(BRIP1):c.2258-19C>T
|
rs1057524575
|
|
|
NM_032043.3(BRIP1):c.2258-19del
|
rs2144681146
|
|
|
NM_032043.3(BRIP1):c.2258-20G>A
|
rs1555590610
|
|
|
NM_032043.3(BRIP1):c.2258-2dup
|
rs2144680473
|
|
|
NM_032043.3(BRIP1):c.2258-6T>C
|
rs2077009706
|
|
|
NM_032043.3(BRIP1):c.2258-7_2258-4del
|
rs1064795010
|
|
|
NM_032043.3(BRIP1):c.2258-7_2258-5del
|
|
|
|
NM_032043.3(BRIP1):c.2258-9_2258-8dup
|
|
|
|
NM_032043.3(BRIP1):c.2262A>T (p.Gly754=)
|
rs1060504324
|
|
|
NM_032043.3(BRIP1):c.2268C>T (p.Leu756=)
|
rs864622332
|
|
|
NM_032043.3(BRIP1):c.2274A>G (p.Val758=)
|
rs786201526
|
|
|
NM_032043.3(BRIP1):c.2280T>C (p.Val760=)
|
|
|
|
NM_032043.3(BRIP1):c.228A>G (p.Val76=)
|
rs2078910583
|
|
|
NM_032043.3(BRIP1):c.2298T>C (p.Ser766=)
|
rs1603303851
|
|
|
NM_032043.3(BRIP1):c.2307G>A (p.Leu769=)
|
rs1555590464
|
|
|
NM_032043.3(BRIP1):c.2313C>T (p.Phe771=)
|
|
|
|
NM_032043.3(BRIP1):c.2319T>C (p.Asp773=)
|
rs1555590447
|
|
|
NM_032043.3(BRIP1):c.2322C>T (p.Asp774=)
|
rs1057520434
|
|
|
NM_032043.3(BRIP1):c.2328C>T (p.Ala776=)
|
rs786203725
|
|
|
NM_032043.3(BRIP1):c.2343A>G (p.Thr781=)
|
rs772636536
|
|
|
NM_032043.3(BRIP1):c.2343A>T (p.Thr781=)
|
rs772636536
|
|
|
NM_032043.3(BRIP1):c.2352T>A (p.Ile784=)
|
rs2077006255
|
|
|
NM_032043.3(BRIP1):c.2352T>C (p.Ile784=)
|
|
|
|
NM_032043.3(BRIP1):c.2361A>C (p.Pro787=)
|
|
|
|
NM_032043.3(BRIP1):c.2364T>C (p.Asn788=)
|
rs587783045
|
|
|
NM_032043.3(BRIP1):c.2373T>C (p.Asp791=)
|
rs876659615
|
|
|
NM_032043.3(BRIP1):c.2376A>G (p.Leu792=)
|
rs554514054
|
|
|
NM_032043.3(BRIP1):c.2379+13A>C
|
|
|
|
NM_032043.3(BRIP1):c.2379+14A>T
|
rs2144674551
|
|
|
NM_032043.3(BRIP1):c.2379+18T>C
|
|
|
|
NM_032043.3(BRIP1):c.2379+7C>T
|
rs1057520464
|
|
|
NM_032043.3(BRIP1):c.2379+8A>G
|
rs1567779307
|
|
|
NM_032043.3(BRIP1):c.2379+9T>C
|
rs1555590278
|
|
|
NM_032043.3(BRIP1):c.237A>G (p.Lys79=)
|
|
|
|
NM_032043.3(BRIP1):c.2380-11A>T
|
|
|
|
NM_032043.3(BRIP1):c.2380-14T>C
|
rs2144384810
|
|
|
NM_032043.3(BRIP1):c.2380-18dup
|
|
|
|
NM_032043.3(BRIP1):c.2380-4T>C
|
rs2144384520
|
|
|
NM_032043.3(BRIP1):c.2380-6T>C
|
|
|
|
NM_032043.3(BRIP1):c.2386C>T (p.Leu796=)
|
rs1057521362
|
|
|
NM_032043.3(BRIP1):c.2388A>G (p.Leu796=)
|
rs1057521977
|
|
|
NM_032043.3(BRIP1):c.2394A>T (p.Arg798=)
|
rs540236878
|
|
|
NM_032043.3(BRIP1):c.2409C>T (p.His803=)
|
rs762039913
|
|
|
NM_032043.3(BRIP1):c.240T>G (p.Ala80=)
|
rs745422385
|
|
|
NM_032043.3(BRIP1):c.2412T>C (p.His804=)
|
rs1555580913
|
|
|
NM_032043.3(BRIP1):c.2415A>G (p.Ser805=)
|
rs769413097
|
|
|
NM_032043.3(BRIP1):c.2430T>C (p.Leu810=)
|
|
|
|
NM_032043.3(BRIP1):c.2433A>G (p.Leu811=)
|
rs751455420
|
|
|
NM_032043.3(BRIP1):c.2433A>T (p.Leu811=)
|
rs751455420
|
|
|
NM_032043.3(BRIP1):c.2435C>T (p.Pro812Leu)
|
rs876659410
|
|
|
NM_032043.3(BRIP1):c.2439C>T (p.Gly813=)
|
|
|
|
NM_032043.3(BRIP1):c.2445G>A (p.Gln815=)
|
rs764195906
|
|
|
NM_032043.3(BRIP1):c.2460A>G (p.Gln820=)
|
rs1555580812
|
|
|
NM_032043.3(BRIP1):c.2463A>G (p.Ala821=)
|
rs2144380143
|
|
|
NM_032043.3(BRIP1):c.2466C>T (p.Tyr822=)
|
rs2144379956
|
|
|
NM_032043.3(BRIP1):c.2469G>A (p.Arg823=)
|
rs587780239
|
|
|
NM_032043.3(BRIP1):c.246A>G (p.Val82=)
|
rs864622659
|
|
|
NM_032043.3(BRIP1):c.2472C>T (p.Ala824=)
|
rs767666616
|
|
|
NM_032043.3(BRIP1):c.2484C>A (p.Ala828=)
|
|
|
|
NM_032043.3(BRIP1):c.2484C>T (p.Ala828=)
|
rs1277187413
|
|
|
NM_032043.3(BRIP1):c.2490T>C (p.Gly830=)
|
|
|
|
NM_032043.3(BRIP1):c.2492+10G>A
|
|
|
|
NM_032043.3(BRIP1):c.2492+11T>A
|
|
|
|
NM_032043.3(BRIP1):c.2492+11T>G
|
rs2061852455
|
|
|
NM_032043.3(BRIP1):c.2492+12G>A
|
rs1424282420
|
|
|
NM_032043.3(BRIP1):c.2492+13A>T
|
|
|
|
NM_032043.3(BRIP1):c.2492+14A>G
|
|
|
|
NM_032043.3(BRIP1):c.2492+15A>G
|
|
|
|
NM_032043.3(BRIP1):c.2492+19A>G
|
|
|
|
NM_032043.3(BRIP1):c.2492+19A>T
|
rs983179829
|
|
|
NM_032043.3(BRIP1):c.2492+7G>A
|
rs2144378579
|
|
|
NM_032043.3(BRIP1):c.2492+9A>C
|
|
|
|
NM_032043.3(BRIP1):c.2492+9A>G
|
|
|
|
NM_032043.3(BRIP1):c.2493-10T>A
|
rs776255327
|
|
|
NM_032043.3(BRIP1):c.2493-10T>C
|
rs776255327
|
|
|
NM_032043.3(BRIP1):c.2493-13C>T
|
|
|
|
NM_032043.3(BRIP1):c.2493-14C>T
|
rs2061479652
|
|
|
NM_032043.3(BRIP1):c.2493-15C>T
|
rs1009398860
|
|
|
NM_032043.3(BRIP1):c.2493-16T>C
|
rs1555574835
|
|
|
NM_032043.3(BRIP1):c.2493-16T>G
|
rs1555574835
|
|
|
NM_032043.3(BRIP1):c.2493-17T>C
|
|
|
|
NM_032043.3(BRIP1):c.2493-4C>G
|
rs1057521675
|
|
|
NM_032043.3(BRIP1):c.2493-8T>C
|
rs2144188159
|
|
|
NM_032043.3(BRIP1):c.2493-9T>G
|
|
|
|
NM_032043.3(BRIP1):c.2526T>C (p.Leu842=)
|
rs1603280539
|
|
|
NM_032043.3(BRIP1):c.2532A>G (p.Leu844=)
|
rs1603280519
|
|
|
NM_032043.3(BRIP1):c.2538T>C (p.Asp846=)
|
rs2144186341
|
|
|
NM_032043.3(BRIP1):c.2556C>T (p.Asn852=)
|
rs876658785
|
|
|
NM_032043.3(BRIP1):c.255A>C (p.Ser85=)
|
rs2078909755
|
|
|
NM_032043.3(BRIP1):c.255A>G (p.Ser85=)
|
|
|
|
NM_032043.3(BRIP1):c.2562T>C (p.Ser854=)
|
rs1555574734
|
|
|
NM_032043.3(BRIP1):c.2565C>T (p.Arg855=)
|
|
|
|
NM_032043.3(BRIP1):c.2571A>T (p.Ile857=)
|
rs1427254734
|
|
|
NM_032043.3(BRIP1):c.2575+10C>T
|
rs1060504322
|
|
|
NM_032043.3(BRIP1):c.2575+12G>A
|
rs1555574706
|
|
|
NM_032043.3(BRIP1):c.2575+12G>C
|
rs1555574706
|
|
|
NM_032043.3(BRIP1):c.2575+13C>G
|
|
|
|
NM_032043.3(BRIP1):c.2575+14T>C
|
rs1567737501
|
|
|
NM_032043.3(BRIP1):c.2575+15G>C
|
|
|
|
NM_032043.3(BRIP1):c.2575+16G>A
|
|
|
|
NM_032043.3(BRIP1):c.2575+20T>C
|
|
|
|
NM_032043.3(BRIP1):c.2576-12C>A
|
rs2061362510
|
|
|
NM_032043.3(BRIP1):c.2576-12C>T
|
rs2061362510
|
|
|
NM_032043.3(BRIP1):c.2576-13C>T
|
|
|
|
NM_032043.3(BRIP1):c.2576-14A>T
|
|
|
|
NM_032043.3(BRIP1):c.2576-16T>G
|
|
|
|
NM_032043.3(BRIP1):c.2576-17T>C
|
rs1057517647
|
|
|
NM_032043.3(BRIP1):c.2576-18G>A
|
rs1369955810
|
|
|
NM_032043.3(BRIP1):c.2576-18G>T
|
|
|
|
NM_032043.3(BRIP1):c.2576-19G>A
|
rs1057521888
|
|
|
NM_032043.3(BRIP1):c.2576-4T>C
|
rs1603277027
|
|
|
NM_032043.3(BRIP1):c.2576-6C>T
|
|
|
|
NM_032043.3(BRIP1):c.2576-7T>A
|
rs759408257
|
|
|
NM_032043.3(BRIP1):c.2576-8T>C
|
rs587780874
|
|
|
NM_032043.3(BRIP1):c.2580T>C (p.Leu860=)
|
rs1603277017
|
|
|
NM_032043.3(BRIP1):c.2583T>G (p.Ser861=)
|
rs2144118726
|
|
|
NM_032043.3(BRIP1):c.2586A>G (p.Lys862=)
|
rs745318756
|
|
|
NM_032043.3(BRIP1):c.2592A>G (p.Val864=)
|
rs2061361778
|
|
|
NM_032043.3(BRIP1):c.2595G>A (p.Arg865=)
|
|
|
|
NM_032043.3(BRIP1):c.2604T>C (p.Ile868=)
|
rs1555573489
|
|
|
NM_032043.3(BRIP1):c.2631A>G (p.Ala877=)
|
rs786201336
|
|
|
NM_032043.3(BRIP1):c.2634G>A (p.Leu878=)
|
|
|
|
NM_032043.3(BRIP1):c.2640C>T (p.Ser880=)
|
rs2144116731
|
|
|
NM_032043.3(BRIP1):c.2643G>A (p.Leu881=)
|
rs2144116635
|
|
|
NM_032043.3(BRIP1):c.264T>C (p.Cys88=)
|
|
|
|
NM_032043.3(BRIP1):c.2655C>T (p.Ser885=)
|
rs2061359430
|
|
|
NM_032043.3(BRIP1):c.2664T>C (p.His888=)
|
rs2144115975
|
|
|
NM_032043.3(BRIP1):c.2667A>G (p.Gln889=)
|
|
|
|
NM_032043.3(BRIP1):c.2670A>G (p.Lys890=)
|
rs1603276885
|
|
|
NM_032043.3(BRIP1):c.2676T>C (p.Leu892=)
|
rs2144115485
|
|
|
NM_032043.3(BRIP1):c.2679T>C (p.Asn893=)
|
rs2144115408
|
|
|
NM_032043.3(BRIP1):c.267A>G (p.Ala89=)
|
rs764027029
|
|
|
NM_032043.3(BRIP1):c.267A>T (p.Ala89=)
|
rs764027029
|
|
|
NM_032043.3(BRIP1):c.2682A>G (p.Val894=)
|
rs1555573439
|
|
|
NM_032043.3(BRIP1):c.2691G>A (p.Lys897=)
|
rs1555573425
|
|
|
NM_032043.3(BRIP1):c.2700C>A (p.Thr900=)
|
|
|
|
NM_032043.3(BRIP1):c.2700C>G (p.Thr900=)
|
|
|
|
NM_032043.3(BRIP1):c.2700C>T (p.Thr900=)
|
|
|
|
NM_032043.3(BRIP1):c.2709G>A (p.Gln903=)
|
|
|
|
NM_032043.3(BRIP1):c.270C>T (p.Cys90=)
|
rs1060501740
|
|
|
NM_032043.3(BRIP1):c.2721T>A (p.Ser907=)
|
rs774467171
|
|
|
NM_032043.3(BRIP1):c.2721T>C (p.Ser907=)
|
rs774467171
|
|
|
NM_032043.3(BRIP1):c.2739T>C (p.Ser913=)
|
rs878855147
|
|
|
NM_032043.3(BRIP1):c.2754C>T (p.Thr918=)
|
rs878855148
|
|
|
NM_032043.3(BRIP1):c.2754_2755delinsTC (p.Ser919Pro)
|
|
|
|
NM_032043.3(BRIP1):c.2763T>C (p.Tyr921=)
|
rs1555573356
|
|
|
NM_032043.3(BRIP1):c.2766A>G (p.Leu922=)
|
rs2144112073
|
|
|
NM_032043.3(BRIP1):c.2767C>T (p.Leu923=)
|
rs1057521544
|
|
|
NM_032043.3(BRIP1):c.2769G>A (p.Leu923=)
|
rs1183897309
|
|
|
NM_032043.3(BRIP1):c.276A>G (p.Ser92=)
|
rs786202281
|
|
|
NM_032043.3(BRIP1):c.2772A>G (p.Glu924=)
|
rs730881625
|
|
|
NM_032043.3(BRIP1):c.2775A>G (p.Ala925=)
|
rs1340804078
|
|
|
NM_032043.3(BRIP1):c.2785C>T (p.Leu929=)
|
rs1603276698
|
|
|
NM_032043.3(BRIP1):c.2790A>C (p.Ser930=)
|
|
|
|
NM_032043.3(BRIP1):c.2799T>C (p.Asn933=)
|
rs2144110883
|
|
|
NM_032043.3(BRIP1):c.2805G>C (p.Val935=)
|
|
|
|
NM_032043.3(BRIP1):c.2808A>G (p.Glu936=)
|
|
|
|
NM_032043.3(BRIP1):c.2814A>G (p.Glu938=)
|
rs1555573311
|
|
|
NM_032043.3(BRIP1):c.2817A>G (p.Ala939=)
|
|
|
|
NM_032043.3(BRIP1):c.2829C>A (p.Val943=)
|
rs767164240
|
|
|
NM_032043.3(BRIP1):c.2829C>G (p.Val943=)
|
rs767164240
|
|
|
NM_032043.3(BRIP1):c.2829C>T (p.Val943=)
|
rs767164240
|
|
|
NM_032043.3(BRIP1):c.2835A>G (p.Glu945=)
|
rs786203633
|
|
|
NM_032043.3(BRIP1):c.2847T>C (p.Pro949=)
|
rs45499991
|
|
|
NM_032043.3(BRIP1):c.2847T>G (p.Pro949=)
|
rs45499991
|
|
|
NM_032043.3(BRIP1):c.2853T>C (p.Ile951=)
|
|
|
|
NM_032043.3(BRIP1):c.2859C>A (p.Thr953=)
|
rs786201685
|
|
|
NM_032043.3(BRIP1):c.2868A>G (p.Ser956=)
|
rs1060504321
|
|
|
NM_032043.3(BRIP1):c.2871T>C (p.Pro957=)
|
rs786202095
|
|
|
NM_032043.3(BRIP1):c.2872C>T (p.Leu958=)
|
rs1555573260
|
|
|
NM_032043.3(BRIP1):c.2874A>C (p.Leu958=)
|
|
|
|
NM_032043.3(BRIP1):c.2883C>T (p.Ser961=)
|
rs367728797
|
|
|
NM_032043.3(BRIP1):c.288A>G (p.Thr96=)
|
rs1278121295
|
|
|
NM_032043.3(BRIP1):c.2895A>G (p.Arg965=)
|
rs2061351890
|
|
|
NM_032043.3(BRIP1):c.2898G>A (p.Lys966=)
|
rs1603276512
|
|
|
NM_032043.3(BRIP1):c.2905+11T>C
|
|
|
|
NM_032043.3(BRIP1):c.2905+13C>A
|
rs2144107162
|
|
|
NM_032043.3(BRIP1):c.2905+16C>G
|
rs778341139
|
|
|
NM_032043.3(BRIP1):c.2905+17C>A
|
rs1458780264
|
|
|
NM_032043.3(BRIP1):c.2905+17C>G
|
rs1458780264
|
|
|
NM_032043.3(BRIP1):c.2905+17C>T
|
rs1458780264
|
|
|
NM_032043.3(BRIP1):c.2905+18C>T
|
|
|
|
NM_032043.3(BRIP1):c.2905+19A>G
|
rs1363568922
|
|
|
NM_032043.3(BRIP1):c.2905+19_2905+23del
|
rs1157279744
|
|
|
NM_032043.3(BRIP1):c.2905+9A>C
|
rs770944170
|
|
|
NM_032043.3(BRIP1):c.2906-10G>A
|
rs1437222408
|
|
|
NM_032043.3(BRIP1):c.2906-13C>A
|
|
|
|
NM_032043.3(BRIP1):c.2906-13C>T
|
|
|
|
NM_032043.3(BRIP1):c.2906-15T>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-17A>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-18A>C
|
|
|
|
NM_032043.3(BRIP1):c.2906-18A>G
|
|
|
|
NM_032043.3(BRIP1):c.2906-18dup
|
rs1456830185
|
|
|
NM_032043.3(BRIP1):c.2906-6T>A
|
|
|
|
NM_032043.3(BRIP1):c.2906-7T>C
|
rs1237575383
|
|
|
NM_032043.3(BRIP1):c.2906-7T>G
|
rs1237575383
|
|
|
NM_032043.3(BRIP1):c.2906-8A>G
|
rs1555573005
|
|
|
NM_032043.3(BRIP1):c.2907T>C (p.Asn969=)
|
rs1555572999
|
|
|
NM_032043.3(BRIP1):c.2913A>G (p.Pro971=)
|
rs1603275716
|
|
|
NM_032043.3(BRIP1):c.2916A>G (p.Val972=)
|
|
|
|
NM_032043.3(BRIP1):c.291C>T (p.Asn97=)
|
rs766561078
|
|
|
NM_032043.3(BRIP1):c.2940A>C (p.Ala980=)
|
rs1603275683
|
|
|
NM_032043.3(BRIP1):c.294T>C (p.Asn98=)
|
rs1555617859
|
|
|
NM_032043.3(BRIP1):c.2958C>T (p.Ser986=)
|
rs1603275662
|
|
|
NM_032043.3(BRIP1):c.2959A>C (p.Arg987=)
|
rs1603275660
|
|
|
NM_032043.3(BRIP1):c.2970C>T (p.Ser990=)
|
rs1603275650
|
|
|
NM_032043.3(BRIP1):c.2973A>G (p.Pro991=)
|
|
|
|
NM_032043.3(BRIP1):c.2979C>T (p.Phe993=)
|
|
|
|
NM_032043.3(BRIP1):c.2991A>C (p.Thr997=)
|
rs45466996
|
|
|
NM_032043.3(BRIP1):c.2991A>G (p.Thr997=)
|
rs45466996
|
|
|
NM_032043.3(BRIP1):c.2994G>A (p.Lys998=)
|
rs757225144
|
|
|
NM_032043.3(BRIP1):c.3003C>T (p.Ser1001=)
|
rs2144091676
|
|
|
NM_032043.3(BRIP1):c.3009A>C (p.Ser1003=)
|
|
|
|
NM_032043.3(BRIP1):c.3009A>G (p.Ser1003=)
|
rs751823379
|
|
|
NM_032043.3(BRIP1):c.3015T>C (p.Phe1005=)
|
|
|
|
NM_032043.3(BRIP1):c.3027A>G (p.Gly1009=)
|
rs786201171
|
|
|
NM_032043.3(BRIP1):c.3039T>A (p.Thr1013=)
|
rs863224803
|
|
|
NM_032043.3(BRIP1):c.3039T>C (p.Thr1013=)
|
rs863224803
|
|
|
NM_032043.3(BRIP1):c.303C>T (p.Asn101=)
|
rs1425170841
|
|
|
NM_032043.3(BRIP1):c.3054G>A (p.Lys1018=)
|
|
|
|
NM_032043.3(BRIP1):c.3063T>C (p.Pro1021=)
|
rs2061321607
|
|
|
NM_032043.3(BRIP1):c.3069C>G (p.Leu1023=)
|
rs61754142
|
|
|
NM_032043.3(BRIP1):c.306A>G (p.Gln102=)
|
|
|
|
NM_032043.3(BRIP1):c.3072G>A (p.Gly1024=)
|
rs778500245
|
|
|
NM_032043.3(BRIP1):c.3075A>C (p.Ser1025=)
|
rs1060504319
|
|
|
NM_032043.3(BRIP1):c.3075A>G (p.Ser1025=)
|
rs1060504319
|
|
|
NM_032043.3(BRIP1):c.3078A>G (p.Ser1026=)
|
rs786201657
|
|
|
NM_032043.3(BRIP1):c.3081G>A (p.Glu1027=)
|
rs777660106
|
|
|
NM_032043.3(BRIP1):c.3084T>C (p.Asn1028=)
|
rs1424179519
|
|
|
NM_032043.3(BRIP1):c.3087T>C (p.Ser1029=)
|
rs1555572848
|
|
|
NM_032043.3(BRIP1):c.3102C>T (p.Pro1034=)
|
rs2144088075
|
|
|
NM_032043.3(BRIP1):c.3117G>A (p.Glu1039=)
|
rs769310105
|
|
|
NM_032043.3(BRIP1):c.3120G>A (p.Lys1040=)
|
rs2144087482
|
|
|
NM_032043.3(BRIP1):c.3126A>G (p.Glu1042=)
|
rs2061319012
|
|
|
NM_032043.3(BRIP1):c.312T>C (p.Thr104=)
|
|
|
|
NM_032043.3(BRIP1):c.3135T>C (p.Thr1045=)
|
|
|
|
NM_032043.3(BRIP1):c.3141G>A (p.Leu1047=)
|
|
|
|
NM_032043.3(BRIP1):c.3150T>G (p.Thr1050=)
|
rs1603275447
|
|
|
NM_032043.3(BRIP1):c.315A>C (p.Ser105=)
|
|
|
|
NM_032043.3(BRIP1):c.315A>T (p.Ser105=)
|
rs1555617827
|
|
|
NM_032043.3(BRIP1):c.3162A>G (p.Glu1054=)
|
rs2144086078
|
|
|
NM_032043.3(BRIP1):c.3165C>G (p.Ser1055=)
|
rs1447544706
|
|
|
NM_032043.3(BRIP1):c.3165C>T (p.Ser1055=)
|
rs1447544706
|
|
|
NM_032043.3(BRIP1):c.3174G>C (p.Leu1058=)
|
rs1555572806
|
|
|
NM_032043.3(BRIP1):c.3174G>T (p.Leu1058=)
|
|
|
|
NM_032043.3(BRIP1):c.3183C>T (p.Asn1061=)
|
rs1555572792
|
|
|
NM_032043.3(BRIP1):c.3186A>G (p.Thr1062=)
|
|
|
|
NM_032043.3(BRIP1):c.3189G>A (p.Ser1063=)
|
rs878855152
|
|
|
NM_032043.3(BRIP1):c.318T>A (p.Arg106=)
|
rs772283705
|
|
|
NM_032043.3(BRIP1):c.318T>C (p.Arg106=)
|
rs772283705
|
|
|
NM_032043.3(BRIP1):c.3201C>T (p.Cys1067=)
|
rs1477019492
|
|
|
NM_032043.3(BRIP1):c.3204T>C (p.Pro1068=)
|
rs2144084552
|
|
|
NM_032043.3(BRIP1):c.3207A>G (p.Gln1069=)
|
rs1555572778
|
|
|
NM_032043.3(BRIP1):c.3210A>C (p.Ser1070=)
|
rs1555572773
|
|
|
NM_032043.3(BRIP1):c.3216C>T (p.Thr1072=)
|
|
|
|
NM_032043.3(BRIP1):c.3225A>G (p.Ser1075=)
|
rs1291039468
|
|
|
NM_032043.3(BRIP1):c.3225A>T (p.Ser1075=)
|
rs1291039468
|
|
|
NM_032043.3(BRIP1):c.3240T>C (p.Asp1080=)
|
rs1603275354
|
|
|
NM_032043.3(BRIP1):c.3246C>A (p.Thr1082=)
|
|
|
|
NM_032043.3(BRIP1):c.3246C>T (p.Thr1082=)
|
rs2144083106
|
|
|
NM_032043.3(BRIP1):c.3267T>C (p.Ser1089=)
|
rs876658543
|
|
|
NM_032043.3(BRIP1):c.3267T>G (p.Ser1089=)
|
rs876658543
|
|
|
NM_032043.3(BRIP1):c.3270A>G (p.Glu1090=)
|
rs1358278249
|
|
|
NM_032043.3(BRIP1):c.3276G>C (p.Pro1092=)
|
rs375911315
|
|
|
NM_032043.3(BRIP1):c.3276G>T (p.Pro1092=)
|
rs375911315
|
|
|
NM_032043.3(BRIP1):c.3279C>G (p.Leu1093=)
|
rs1555572722
|
|
|
NM_032043.3(BRIP1):c.3279C>T (p.Leu1093=)
|
|
|
|
NM_032043.3(BRIP1):c.327C>T (p.Asn109=)
|
|
|
|
NM_032043.3(BRIP1):c.3285T>C (p.Ser1095=)
|
rs774105218
|
|
|
NM_032043.3(BRIP1):c.3294C>T (p.Ala1098=)
|
rs748928248
|
|
|
NM_032043.3(BRIP1):c.3295C>T (p.Leu1099=)
|
|
|
|
NM_032043.3(BRIP1):c.3312A>G (p.Glu1104=)
|
rs1555572697
|
|
|
NM_032043.3(BRIP1):c.3321A>G (p.Leu1107=)
|
rs1603275229
|
|
|
NM_032043.3(BRIP1):c.3324A>T (p.Val1108=)
|
|
|
|
NM_032043.3(BRIP1):c.3330A>G (p.Glu1110=)
|
rs2061311198
|
|
|
NM_032043.3(BRIP1):c.333A>C (p.Pro111=)
|
|
|
|
NM_032043.3(BRIP1):c.3345C>A (p.Ser1115=)
|
rs2144079396
|
|
|
NM_032043.3(BRIP1):c.3345C>T (p.Ser1115=)
|
rs2144079396
|
|
|
NM_032043.3(BRIP1):c.3351A>G (p.Ser1117=)
|
rs2144079200
|
|
|
NM_032043.3(BRIP1):c.3357A>G (p.Arg1119=)
|
|
|
|
NM_032043.3(BRIP1):c.3360T>C (p.Asp1120=)
|
rs876660747
|
|
|
NM_032043.3(BRIP1):c.336C>T (p.Ser112=)
|
rs1603366251
|
|
|
NM_032043.3(BRIP1):c.3378A>G (p.Glu1126=)
|
rs145855459
|
|
|
NM_032043.3(BRIP1):c.3384A>G (p.Glu1128=)
|
rs868546317
|
|
|
NM_032043.3(BRIP1):c.3393T>C (p.Tyr1131=)
|
|
|
|
NM_032043.3(BRIP1):c.3396T>C (p.Phe1132=)
|
rs876659137
|
|
|
NM_032043.3(BRIP1):c.339A>C (p.Thr113=)
|
rs2078906632
|
|
|
NM_032043.3(BRIP1):c.339A>G (p.Thr113=)
|
rs2078906632
|
|
|
NM_032043.3(BRIP1):c.33T>C (p.Gly11=)
|
rs759187663
|
|
|
NM_032043.3(BRIP1):c.3402T>G (p.Pro1134=)
|
rs2061308538
|
|
|
NM_032043.3(BRIP1):c.3405A>G (p.Glu1135=)
|
rs2144077304
|
|
|
NM_032043.3(BRIP1):c.3423T>C (p.Asp1141=)
|
rs2144076602
|
|
|
NM_032043.3(BRIP1):c.3426A>G (p.Thr1142=)
|
|
|
|
NM_032043.3(BRIP1):c.3429T>C (p.Asp1143=)
|
rs1315917374
|
|
|
NM_032043.3(BRIP1):c.342A>G (p.Pro114=)
|
rs756764576
|
|
|
NM_032043.3(BRIP1):c.3441T>C (p.Asn1147=)
|
|
|
|
NM_032043.3(BRIP1):c.3444C>T (p.Asp1148=)
|
rs28997573
|
|
|
NM_032043.3(BRIP1):c.3472T>C (p.Leu1158=)
|
rs1060504330
|
|
|
NM_032043.3(BRIP1):c.3480C>T (p.Asn1160=)
|
rs746898528
|
|
|
NM_032043.3(BRIP1):c.3498A>G (p.Leu1166=)
|
rs1196759903
|
|
|
NM_032043.3(BRIP1):c.3504A>G (p.Lys1168=)
|
rs1259866317
|
|
|
NM_032043.3(BRIP1):c.3507C>T (p.Asp1169=)
|
|
|
|
NM_032043.3(BRIP1):c.3522A>G (p.Arg1174=)
|
rs2144073145
|
|
|
NM_032043.3(BRIP1):c.3528A>C (p.Ile1176=)
|
|
|
|
NM_032043.3(BRIP1):c.3531A>G (p.Lys1177=)
|
rs181186298
|
|
|
NM_032043.3(BRIP1):c.3537A>C (p.Val1179=)
|
|
|
|
NM_032043.3(BRIP1):c.3543A>G (p.Ser1181=)
|
rs1060504328
|
|
|
NM_032043.3(BRIP1):c.3546C>A (p.Ala1182=)
|
rs755440956
|
|
|
NM_032043.3(BRIP1):c.3552A>G (p.Glu1184=)
|
rs1057522561
|
|
|
NM_032043.3(BRIP1):c.3555G>A (p.Val1185=)
|
|
|
|
NM_032043.3(BRIP1):c.3558A>G (p.Lys1186=)
|
rs1555572529
|
|
|
NM_032043.3(BRIP1):c.3561T>G (p.Ala1187=)
|
rs2144071810
|
|
|
NM_032043.3(BRIP1):c.3564G>A (p.Glu1188=)
|
|
|
|
NM_032043.3(BRIP1):c.3579A>G (p.Thr1193=)
|
rs1060504331
|
|
|
NM_032043.3(BRIP1):c.3585G>A (p.Leu1195=)
|
rs2061301182
|
|
|
NM_032043.3(BRIP1):c.3588T>C (p.Asn1196=)
|
rs1555572517
|
|
|
NM_032043.3(BRIP1):c.3595C>T (p.Leu1199=)
|
rs876659839
|
|
|
NM_032043.3(BRIP1):c.3600T>C (p.His1200=)
|
|
|
|
NM_032043.3(BRIP1):c.3603T>C (p.Ile1201=)
|
rs1239998940
|
|
|
NM_032043.3(BRIP1):c.360C>T (p.Gly120=)
|
rs1060501730
|
|
|
NM_032043.3(BRIP1):c.3618T>C (p.Ile1206=)
|
|
|
|
NM_032043.3(BRIP1):c.3624C>T (p.Asp1208=)
|
rs2144069601
|
|
|
NM_032043.3(BRIP1):c.3627T>A (p.Ile1209=)
|
rs548674096
|
|
|
NM_032043.3(BRIP1):c.3630T>C (p.Asp1210=)
|
rs2144069414
|
|
|
NM_032043.3(BRIP1):c.3639A>G (p.Val1213=)
|
rs2144069102
|
|
|
NM_032043.3(BRIP1):c.363T>A (p.Thr121=)
|
rs876660306
|
|
|
NM_032043.3(BRIP1):c.363T>C (p.Thr121=)
|
rs876660306
|
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
|
NM_032043.3(BRIP1):c.3660A>G (p.Glu1220=)
|
rs2144068349
|
|
|
NM_032043.3(BRIP1):c.3661C>T (p.Leu1221=)
|
rs2061298344
|
|
|
NM_032043.3(BRIP1):c.3667C>T (p.Leu1223=)
|
rs748310432
|
|
|
NM_032043.3(BRIP1):c.3669G>A (p.Leu1223=)
|
rs1567727357
|
|
|
NM_032043.3(BRIP1):c.366A>G (p.Ser122=)
|
rs1603366194
|
|
|
NM_032043.3(BRIP1):c.366A>T (p.Ser122=)
|
rs1603366194
|
|
|
NM_032043.3(BRIP1):c.3675A>G (p.Lys1225=)
|
|
|
|
NM_032043.3(BRIP1):c.3690A>G (p.Glu1230=)
|
|
|
|
NM_032043.3(BRIP1):c.3696G>A (p.Lys1232=)
|
rs2061297235
|
|
|
NM_032043.3(BRIP1):c.3699C>T (p.Asn1233=)
|
|
|
|
NM_032043.3(BRIP1):c.36G>C (p.Gly12=)
|
rs45566938
|
|
|
NM_032043.3(BRIP1):c.3702T>C (p.Phe1234=)
|
|
|
|
NM_032043.3(BRIP1):c.3705A>G (p.Lys1235=)
|
|
|
|
NM_032043.3(BRIP1):c.3711T>C (p.Ser1237=)
|
rs786203915
|
|
|
NM_032043.3(BRIP1):c.3717C>A (p.Ser1239=)
|
rs758809865
|
|
|
NM_032043.3(BRIP1):c.3717C>G (p.Ser1239=)
|
|
|
|
NM_032043.3(BRIP1):c.372T>C (p.Thr124=)
|
rs1555617785
|
|
|
NM_032043.3(BRIP1):c.3741T>A (p.Gly1247=)
|
rs1555572413
|
|
|
NM_032043.3(BRIP1):c.3747G>A (p.Lys1249=)
|
rs1264149264
|
|
|
NM_032043.3(BRIP1):c.3750A>G (p.Ter1250=)
|
|
|
|
NM_032043.3(BRIP1):c.375T>C (p.Cys125=)
|
|
|
|
NM_032043.3(BRIP1):c.379+10A>G
|
|
|
|
NM_032043.3(BRIP1):c.379+17C>T
|
rs1567874393
|
|
|
NM_032043.3(BRIP1):c.379+19G>C
|
rs2145825488
|
|
|
NM_032043.3(BRIP1):c.379+6T>A
|
|
|
|
NM_032043.3(BRIP1):c.379+7T>C
|
|
|
|
NM_032043.3(BRIP1):c.379+8A>C
|
rs1057520254
|
|
|
NM_032043.3(BRIP1):c.379+8A>G
|
rs1057520254
|
|
|
NM_032043.3(BRIP1):c.379+9T>C
|
|
|
|
NM_032043.3(BRIP1):c.380-12T>C
|
rs2145767396
|
|
|
NM_032043.3(BRIP1):c.380-13T>C
|
|
|
|
NM_032043.3(BRIP1):c.380-16A>T
|
rs769150213
|
|
|
NM_032043.3(BRIP1):c.380-4T>C
|
rs1416727235
|
|
|
NM_032043.3(BRIP1):c.380-6T>C
|
rs780921390
|
|
|
NM_032043.3(BRIP1):c.384C>T (p.Ser128=)
|
rs1555616231
|
|
|
NM_032043.3(BRIP1):c.387T>C (p.Pro129=)
|
rs779324498
|
|
|
NM_032043.3(BRIP1):c.39G>A (p.Val13=)
|
rs2078972813
|
|
|
NM_032043.3(BRIP1):c.408A>C (p.Ala136=)
|
rs876660891
|
|
|
NM_032043.3(BRIP1):c.408A>G (p.Ala136=)
|
rs876660891
|
|
|
NM_032043.3(BRIP1):c.408A>T (p.Ala136=)
|
|
|
|
NM_032043.3(BRIP1):c.420T>C (p.Ala140=)
|
rs1555616190
|
|
|
NM_032043.3(BRIP1):c.420T>G (p.Ala140=)
|
rs1555616190
|
|
|
NM_032043.3(BRIP1):c.42G>A (p.Lys14=)
|
rs2078972704
|
|
|
NM_032043.3(BRIP1):c.432A>G (p.Ala144=)
|
|
|
|
NM_032043.3(BRIP1):c.432A>T (p.Ala144=)
|
rs1342776835
|
|
|
NM_032043.3(BRIP1):c.435C>T (p.Ser145=)
|
|
|
|
NM_032043.3(BRIP1):c.438A>C (p.Ile146=)
|
rs886038702
|
|
|
NM_032043.3(BRIP1):c.438A>T (p.Ile146=)
|
rs886038702
|
|
|
NM_032043.3(BRIP1):c.442A>C (p.Arg148=)
|
rs876658914
|
|
|
NM_032043.3(BRIP1):c.447T>C (p.Asp149=)
|
|
|
|
NM_032043.3(BRIP1):c.459T>C (p.Asp153=)
|
rs1603362599
|
|
|
NM_032043.3(BRIP1):c.462T>C (p.Phe154=)
|
rs1555616156
|
|
|
NM_032043.3(BRIP1):c.468A>G (p.Val156=)
|
rs876660148
|
|
|
NM_032043.3(BRIP1):c.471G>A (p.Glu157=)
|
rs2078778336
|
|
|
NM_032043.3(BRIP1):c.477A>G (p.Lys159=)
|
|
|
|
NM_032043.3(BRIP1):c.484C>A (p.Arg162=)
|
rs747604569
|
|
|
NM_032043.3(BRIP1):c.485G>A (p.Arg162Gln)
|
rs61757643
|
|
|
NM_032043.3(BRIP1):c.489C>G (p.Pro163=)
|
|
|
|
NM_032043.3(BRIP1):c.48C>T (p.Tyr16=)
|
rs1603368466
|
|
|
NM_032043.3(BRIP1):c.504G>A (p.Gln168=)
|
rs1064795698
|
|
|
NM_032043.3(BRIP1):c.507+10G>A
|
rs1057523376
|
|
|
NM_032043.3(BRIP1):c.507+15T>C
|
rs2145760774
|
|
|
NM_032043.3(BRIP1):c.507+16T>C
|
|
|
|
NM_032043.3(BRIP1):c.507+19C>A
|
|
|
|
NM_032043.3(BRIP1):c.507+20A>G
|
rs369270945
|
|
|
NM_032043.3(BRIP1):c.507+7dup
|
rs2145761034
|
|
|
NM_032043.3(BRIP1):c.507+9A>G
|
rs2145760959
|
|
|
NM_032043.3(BRIP1):c.507+9_507+10del
|
rs747185394
|
|
|
NM_032043.3(BRIP1):c.508-10G>A
|
rs2078749443
|
|
|
NM_032043.3(BRIP1):c.508-10G>C
|
rs2078749443
|
|
|
NM_032043.3(BRIP1):c.508-10G>T
|
|
|
|
NM_032043.3(BRIP1):c.508-12C>T
|
rs2145745562
|
|
|
NM_032043.3(BRIP1):c.508-16G>C
|
rs1423428195
|
|
|
NM_032043.3(BRIP1):c.508-20T>G
|
|
|
|
NM_032043.3(BRIP1):c.508-3C>T
|
|
|
|
NM_032043.3(BRIP1):c.508-8G>A
|
rs202074040
|
|
|
NM_032043.3(BRIP1):c.510T>C (p.Ile170=)
|
|
|
|
NM_032043.3(BRIP1):c.516A>G (p.Lys172=)
|
|
|
|
NM_032043.3(BRIP1):c.525C>T (p.Cys175=)
|
rs2078748660
|
|
|
NM_032043.3(BRIP1):c.534A>G (p.Thr178=)
|
rs2145744562
|
|
|
NM_032043.3(BRIP1):c.543C>T (p.His181=)
|
rs1285947952
|
|
|
NM_032043.3(BRIP1):c.549G>A (p.Leu183=)
|
rs1060504335
|
|
|
NM_032043.3(BRIP1):c.553G>A (p.Ala185Thr)
|
rs745645356
|
|
|
NM_032043.3(BRIP1):c.576T>C (p.Thr192=)
|
rs781282996
|
|
|
NM_032043.3(BRIP1):c.579A>G (p.Val193=)
|
rs2145743084
|
|
|
NM_032043.3(BRIP1):c.57T>C (p.Tyr19=)
|
rs876659588
|
|
|
NM_032043.3(BRIP1):c.588C>T (p.Asn196=)
|
rs758851721
|
|
|
NM_032043.3(BRIP1):c.591T>A (p.Ser197=)
|
|
|
|
NM_032043.3(BRIP1):c.594A>G (p.Pro198=)
|
rs2145742604
|
|
|
NM_032043.3(BRIP1):c.600A>G (p.Glu200=)
|
|
|
|
NM_032043.3(BRIP1):c.612C>T (p.Ser204=)
|
|
|
|
NM_032043.3(BRIP1):c.618G>A (p.Ser206=)
|
rs367614726
|
|
|
NM_032043.3(BRIP1):c.618G>C (p.Ser206=)
|
rs367614726
|
|
|
NM_032043.3(BRIP1):c.618G>T (p.Ser206=)
|
rs367614726
|
|
|
NM_032043.3(BRIP1):c.621A>G (p.Pro207=)
|
|
|
|
NM_032043.3(BRIP1):c.627+11A>G
|
|
|
|
NM_032043.3(BRIP1):c.627+15C>T
|
|
|
|
NM_032043.3(BRIP1):c.627+2_627+9dup
|
|
|
|
NM_032043.3(BRIP1):c.627+7A>G
|
rs1060504334
|
|
|
NM_032043.3(BRIP1):c.628-10T>C
|
rs375646029
|
|
|
NM_032043.3(BRIP1):c.628-11del
|
|
|
|
NM_032043.3(BRIP1):c.628-15T>C
|
|
|
|
NM_032043.3(BRIP1):c.628-15dup
|
rs2078118670
|
|
|
NM_032043.3(BRIP1):c.628-5T>C
|
|
|
|
NM_032043.3(BRIP1):c.628-6T>G
|
|
|
|
NM_032043.3(BRIP1):c.628-7C>T
|
rs2145424156
|
|
|
NM_032043.3(BRIP1):c.628-8del
|
rs2145424216
|
|
|
NM_032043.3(BRIP1):c.630C>T (p.Pro210=)
|
rs864622510
|
|
|
NM_032043.3(BRIP1):c.633T>C (p.Pro211=)
|
rs1603347066
|
|
|
NM_032043.3(BRIP1):c.636C>A (p.Gly212=)
|
rs1057520255
|
|
|
NM_032043.3(BRIP1):c.63T>C (p.Ala21=)
|
rs2145864480
|
|
|
NM_032043.3(BRIP1):c.651C>T (p.Cys217=)
|
rs1555609365
|
|
|
NM_032043.3(BRIP1):c.654T>C (p.Cys218=)
|
rs2145422653
|
|
|
NM_032043.3(BRIP1):c.66C>T (p.Tyr22=)
|
rs1603368431
|
|
|
NM_032043.3(BRIP1):c.672A>C (p.Gly224=)
|
rs752356873
|
|
|
NM_032043.3(BRIP1):c.675C>T (p.Asn225=)
|
rs2145421606
|
|
|
NM_032043.3(BRIP1):c.681A>G (p.Gln227=)
|
rs1603346946
|
|
|
NM_032043.3(BRIP1):c.690G>A (p.Ser230=)
|
rs751460179
|
|
|
NM_032043.3(BRIP1):c.690G>C (p.Ser230=)
|
rs751460179
|
|
|
NM_032043.3(BRIP1):c.696C>T (p.Thr232=)
|
rs772957320
|
|
|
NM_032043.3(BRIP1):c.699T>C (p.Ile233=)
|
|
|
|
NM_032043.3(BRIP1):c.711T>C (p.His237=)
|
rs772048413
|
|
|
NM_032043.3(BRIP1):c.717G>A (p.Gly239=)
|
rs2078113961
|
|
|
NM_032043.3(BRIP1):c.720A>G (p.Lys240=)
|
rs1259212372
|
|
|
NM_032043.3(BRIP1):c.723C>T (p.Ser241=)
|
rs1567838225
|
|
|
NM_032043.3(BRIP1):c.732C>T (p.Pro244=)
|
rs786202300
|
|
|
NM_032043.3(BRIP1):c.735A>G (p.Lys245=)
|
rs2145419080
|
|
|
NM_032043.3(BRIP1):c.741T>C (p.Tyr247=)
|
|
|
|
NM_032043.3(BRIP1):c.747G>A (p.Gly249=)
|
rs2145418607
|
|
|
NM_032043.3(BRIP1):c.750A>T (p.Thr250=)
|
rs1057522393
|
|
|
NM_032043.3(BRIP1):c.756A>G (p.Thr252=)
|
|
|
|
NM_032043.3(BRIP1):c.75G>A (p.Gln25=)
|
rs1555618712
|
|
|
NM_032043.3(BRIP1):c.765G>A (p.Gln255=)
|
rs2078111971
|
|
|
NM_032043.3(BRIP1):c.768T>C (p.Ile256=)
|
rs1452578169
|
|
|
NM_032043.3(BRIP1):c.786G>A (p.Glu262=)
|
rs876658312
|
|
|
NM_032043.3(BRIP1):c.789C>A (p.Leu263=)
|
rs1603346789
|
|
|
NM_032043.3(BRIP1):c.789C>G (p.Leu263=)
|
rs1603346789
|
|
|
NM_032043.3(BRIP1):c.789C>T (p.Leu263=)
|
rs1603346789
|
|
|
NM_032043.3(BRIP1):c.792G>T (p.Arg264=)
|
rs1555609230
|
|
|
NM_032043.3(BRIP1):c.798G>A (p.Thr266=)
|
rs1260055674
|
|
|
NM_032043.3(BRIP1):c.804T>C (p.Tyr268=)
|
rs587782514
|
|
|
NM_032043.3(BRIP1):c.807A>G (p.Ser269=)
|
|
|
|
NM_032043.3(BRIP1):c.816A>C (p.Pro272=)
|
rs765027420
|
|
|
NM_032043.3(BRIP1):c.816A>G (p.Pro272=)
|
rs765027420
|
|
|
NM_032043.3(BRIP1):c.822T>C (p.Thr274=)
|
|
|
|
NM_032043.3(BRIP1):c.831C>T (p.Ser277=)
|
rs45549332
|
|
|
NM_032043.3(BRIP1):c.834C>T (p.Ser278=)
|
rs1060501725
|
|
|
NM_032043.3(BRIP1):c.837G>A (p.Arg279=)
|
|
|
|
NM_032043.3(BRIP1):c.843T>C (p.His281=)
|
rs1555609187
|
|
|
NM_032043.3(BRIP1):c.846T>C (p.Thr282=)
|
rs2145413899
|
|
|
NM_032043.3(BRIP1):c.855T>C (p.His285=)
|
|
|
|
NM_032043.3(BRIP1):c.858T>C (p.Pro286=)
|
rs2145413343
|
|
|
NM_032043.3(BRIP1):c.864A>G (p.Val288=)
|
rs748545827
|
|
|
NM_032043.3(BRIP1):c.867C>A (p.Val289=)
|
rs147739458
|
|
|
NM_032043.3(BRIP1):c.867C>G (p.Val289=)
|
rs147739458
|
|
|
NM_032043.3(BRIP1):c.885T>C (p.Asn295=)
|
|
|
|
NM_032043.3(BRIP1):c.901T>C (p.Leu301=)
|
rs2145411199
|
|
|
NM_032043.3(BRIP1):c.903G>A (p.Leu301=)
|
rs876660578
|
|
|
NM_032043.3(BRIP1):c.906A>G (p.Leu302=)
|
|
|
|
NM_032043.3(BRIP1):c.909T>C (p.Asp303=)
|
|
|
|
NM_032043.3(BRIP1):c.912G>A (p.Gly304=)
|
rs786201326
|
|
|
NM_032043.3(BRIP1):c.912G>C (p.Gly304=)
|
rs786201326
|
|
|
NM_032043.3(BRIP1):c.918+10G>A
|
rs1365605495
|
|
|
NM_032043.3(BRIP1):c.918+12T>G
|
|
|
|
NM_032043.3(BRIP1):c.918+14T>C
|
rs757068323
|
|
|
NM_032043.3(BRIP1):c.918+14T>G
|
|
|
|
NM_032043.3(BRIP1):c.918+17T>C
|
|
|
|
NM_032043.3(BRIP1):c.918+7A>G
|
rs1060504329
|
|
|
NM_032043.3(BRIP1):c.918+8A>C
|
rs765147876
|
|
|
NM_032043.3(BRIP1):c.918+9A>G
|
rs2145410020
|
|
|
NM_032043.3(BRIP1):c.918C>T (p.Asn306=)
|
rs876660724
|
|
|
NM_032043.3(BRIP1):c.919-12A>G
|
|
|
|
NM_032043.3(BRIP1):c.919-14A>G
|
rs928815517
|
|
|
NM_032043.3(BRIP1):c.919-14A>T
|
|
|
|
NM_032043.3(BRIP1):c.919-16G>A
|
|
|
|
NM_032043.3(BRIP1):c.919-16G>T
|
|
|
|
NM_032043.3(BRIP1):c.919-17dup
|
|
|
|
NM_032043.3(BRIP1):c.919-18A>C
|
|
|
|
NM_032043.3(BRIP1):c.919-18A>T
|
rs773910941
|
|
|
NM_032043.3(BRIP1):c.919-4C>T
|
|
|
|
NM_032043.3(BRIP1):c.919-8G>A
|
rs777079928
|
|
|
NM_032043.3(BRIP1):c.921A>G (p.Gly307=)
|
rs786202337
|
|
|
NM_032043.3(BRIP1):c.93+10T>A
|
rs2145863247
|
|
|
NM_032043.3(BRIP1):c.93+11_93+12dup
|
rs1064794767
|
|
|
NM_032043.3(BRIP1):c.93+14A>C
|
|
|
|
NM_032043.3(BRIP1):c.93+15G>T
|
rs113052745
|
|
|
NM_032043.3(BRIP1):c.93+17A>G
|
rs778826728
|
|
|
NM_032043.3(BRIP1):c.93+8T>G
|
rs1567878012
|
|
|
NM_032043.3(BRIP1):c.93+9T>A
|
|
|
|
NM_032043.3(BRIP1):c.94-10del
|
rs2145853311
|
|
|
NM_032043.3(BRIP1):c.94-16G>C
|
|
|
|
NM_032043.3(BRIP1):c.94-4A>T
|
rs765154059
|
|
|
NM_032043.3(BRIP1):c.94-8G>A
|
|
|
|
NM_032043.3(BRIP1):c.94-8G>T
|
rs750361927
|
|
|
NM_032043.3(BRIP1):c.942T>C (p.His314=)
|
|
|
|
NM_032043.3(BRIP1):c.945A>T (p.Gly315=)
|
|
|
|
NM_032043.3(BRIP1):c.957T>C (p.Ile319=)
|
|
|
|
NM_032043.3(BRIP1):c.966G>A (p.Gln322=)
|
rs2145340652
|
|
|
NM_032043.3(BRIP1):c.969C>T (p.His323=)
|
rs1555607775
|
|
|
NM_032043.3(BRIP1):c.972A>G (p.Thr324=)
|
rs779627397
|
|
|
NM_032043.3(BRIP1):c.978G>A (p.Gln326=)
|
rs1555607764
|
|
|
NM_032043.3(BRIP1):c.981T>A (p.Thr327=)
|
rs2145339751
|
|
|
NM_032043.3(BRIP1):c.990G>A (p.Gly330=)
|
rs1060504320
|
|
|
NM_032444.4(SLX4):c.1014T>C (p.Ile338=)
|
|
|
|
NM_032444.4(SLX4):c.1095G>A (p.Gln365=)
|
rs2151134031
|
|
|
NM_032444.4(SLX4):c.1119G>A (p.Leu373=)
|
|
|
|
NM_032444.4(SLX4):c.1163+11G>T
|
|
|
|
NM_032444.4(SLX4):c.1164-15T>G
|
|
|
|
NM_032444.4(SLX4):c.1164-9G>A
|
rs2040686112
|
|
|
NM_032444.4(SLX4):c.1188G>A (p.Leu396=)
|
rs2151132132
|
|
|
NM_032444.4(SLX4):c.1230G>A (p.Arg410=)
|
rs991787767
|
|
|
NM_032444.4(SLX4):c.1236G>A (p.Lys412=)
|
|
|
|
NM_032444.4(SLX4):c.1239G>A (p.Val413=)
|
|
|
|
NM_032444.4(SLX4):c.1242C>T (p.Asp414=)
|
|
|
|
NM_032444.4(SLX4):c.1254C>G (p.Ser418=)
|
|
|
|
NM_032444.4(SLX4):c.1254C>T (p.Ser418=)
|
|
|
|
NM_032444.4(SLX4):c.1257G>A (p.Glu419=)
|
rs2151131965
|
|
|
NM_032444.4(SLX4):c.1266G>C (p.Leu422=)
|
|
|
|
NM_032444.4(SLX4):c.1272C>T (p.Ala424=)
|
rs2151131919
|
|
|
NM_032444.4(SLX4):c.1284C>G (p.Ser428=)
|
|
|
|
NM_032444.4(SLX4):c.1290G>A (p.Ser430=)
|
|
|
|
NM_032444.4(SLX4):c.1302G>T (p.Pro434=)
|
|
|
|
NM_032444.4(SLX4):c.1320G>T (p.Ala440=)
|
|
|
|
NM_032444.4(SLX4):c.1326G>A (p.Arg442=)
|
|
|
|
NM_032444.4(SLX4):c.1366+10A>T
|
|
|
|
NM_032444.4(SLX4):c.1367-14T>C
|
rs2151131642
|
|
|
NM_032444.4(SLX4):c.1367-17C>T
|
|
|
|
NM_032444.4(SLX4):c.1367-7T>C
|
rs2040679730
|
|
|
NM_032444.4(SLX4):c.1395G>A (p.Pro465=)
|
rs569518866
|
|
|
NM_032444.4(SLX4):c.1404C>A (p.Pro468=)
|
|
|
|
NM_032444.4(SLX4):c.1404C>T (p.Pro468=)
|
|
|
|
NM_032444.4(SLX4):c.1488A>G (p.Glu496=)
|
rs1596527585
|
|
|
NM_032444.4(SLX4):c.1521G>A (p.Arg507=)
|
|
|
|
NM_032444.4(SLX4):c.1545A>G (p.Arg515=)
|
|
|
|
NM_032444.4(SLX4):c.1548G>A (p.Ala516=)
|
|
|
|
NM_032444.4(SLX4):c.1569T>C (p.Pro523=)
|
rs2151131241
|
|
|
NM_032444.4(SLX4):c.1572A>G (p.Glu524=)
|
|
|
|
NM_032444.4(SLX4):c.1596G>A (p.Glu532=)
|
rs2151131185
|
|
|
NM_032444.4(SLX4):c.1641G>C (p.Thr547=)
|
|
|
|
NM_032444.4(SLX4):c.1644C>T (p.Ala548=)
|
|
|
|
NM_032444.4(SLX4):c.1656T>G (p.Pro552=)
|
rs1596527364
|
|
|
NM_032444.4(SLX4):c.1672C>A (p.Arg558=)
|
rs372264472
|
|
|
NM_032444.4(SLX4):c.1683+7C>T
|
rs1489386420
|
|
|
NM_032444.4(SLX4):c.1683+9C>T
|
rs1242929879
|
|
|
NM_032444.4(SLX4):c.1684-11G>A
|
|
|
|
NM_032444.4(SLX4):c.1684-12G>T
|
|
|
|
NM_032444.4(SLX4):c.1684-18C>T
|
|
|
|
NM_032444.4(SLX4):c.1743G>A (p.Glu581=)
|
|
|
|
NM_032444.4(SLX4):c.1755C>A (p.Pro585=)
|
rs114016359
|
|
|
NM_032444.4(SLX4):c.1800G>A (p.Pro600=)
|
rs777829533
|
|
|
NM_032444.4(SLX4):c.183G>A (p.Arg61=)
|
rs2040815577
|
|
|
NM_032444.4(SLX4):c.1851C>T (p.Asp617=)
|
rs754155444
|
|
|
NM_032444.4(SLX4):c.1857G>C (p.Ala619=)
|
rs375786206
|
|
|
NM_032444.4(SLX4):c.1860G>A (p.Arg620=)
|
|
|
|
NM_032444.4(SLX4):c.186G>A (p.Val62=)
|
|
|
|
NM_032444.4(SLX4):c.1881G>T (p.Pro627=)
|
|
|
|
NM_032444.4(SLX4):c.1887C>A (p.Pro629=)
|
|
|
|
NM_032444.4(SLX4):c.1887C>T (p.Pro629=)
|
rs762862604
|
|
|
NM_032444.4(SLX4):c.1893T>C (p.Ser631=)
|
|
|
|
NM_032444.4(SLX4):c.189A>G (p.Lys63=)
|
|
|
|
NM_032444.4(SLX4):c.1911G>A (p.Ser637=)
|
rs200013924
|
|
|
NM_032444.4(SLX4):c.1917G>A (p.Gly639=)
|
rs933524149
|
|
|
NM_032444.4(SLX4):c.1920T>C (p.Thr640=)
|
|
|
|
NM_032444.4(SLX4):c.1924+11G>T
|
rs2151129785
|
|
|
NM_032444.4(SLX4):c.1924+13G>C
|
|
|
|
NM_032444.4(SLX4):c.1924+8G>A
|
|
|
|
NM_032444.4(SLX4):c.1925-19C>T
|
|
|
|
NM_032444.4(SLX4):c.1925-4T>C
|
rs2040644472
|
|
|
NM_032444.4(SLX4):c.1998G>A (p.Arg666=)
|
rs1596525936
|
|
|
NM_032444.4(SLX4):c.2001C>T (p.Gly667=)
|
|
|
|
NM_032444.4(SLX4):c.2004C>G (p.Gly668=)
|
|
|
|
NM_032444.4(SLX4):c.2013+18C>T
|
|
|
|
NM_032444.4(SLX4):c.2014-10C>T
|
|
|
|
NM_032444.4(SLX4):c.2014-10_2014-8del
|
rs759422070
|
|
|
NM_032444.4(SLX4):c.2014-15C>T
|
|
|
|
NM_032444.4(SLX4):c.2014-17C>T
|
|
|
|
NM_032444.4(SLX4):c.2026C>T (p.Leu676=)
|
|
|
|
NM_032444.4(SLX4):c.2046C>A (p.Gly682=)
|
|
|
|
NM_032444.4(SLX4):c.207A>G (p.Glu69=)
|
rs2040815069
|
|
|
NM_032444.4(SLX4):c.2091G>A (p.Thr697=)
|
|
|
|
NM_032444.4(SLX4):c.2139A>G (p.Arg713=)
|
rs2151128422
|
|
|
NM_032444.4(SLX4):c.2142C>T (p.Cys714=)
|
|
|
|
NM_032444.4(SLX4):c.2145G>A (p.Pro715=)
|
|
|
|
NM_032444.4(SLX4):c.2148C>T (p.Leu716=)
|
|
|
|
NM_032444.4(SLX4):c.2160+11G>A
|
|
|
|
NM_032444.4(SLX4):c.2160+19G>A
|
rs759835803
|
|
|
NM_032444.4(SLX4):c.2160+9G>A
|
|
|
|
NM_032444.4(SLX4):c.2161-4G>T
|
|
|
|
NM_032444.4(SLX4):c.2175C>A (p.Gly725=)
|
rs1455889621
|
|
|
NM_032444.4(SLX4):c.2175C>T (p.Gly725=)
|
|
|
|
NM_032444.4(SLX4):c.2190G>A (p.Glu730=)
|
|
|
|
NM_032444.4(SLX4):c.2205C>T (p.Thr735=)
|
rs2151127266
|
|
|
NM_032444.4(SLX4):c.2217G>A (p.Leu739=)
|
rs1596523977
|
|
|
NM_032444.4(SLX4):c.2223T>A (p.Gly741=)
|
rs777278153
|
|
|
NM_032444.4(SLX4):c.2223T>G (p.Gly741=)
|
rs777278153
|
|
|
NM_032444.4(SLX4):c.2250G>A (p.Thr750=)
|
|
|
|
NM_032444.4(SLX4):c.2327+10G>C
|
|
|
|
NM_032444.4(SLX4):c.2327+15C>T
|
|
|
|
NM_032444.4(SLX4):c.2328-10C>T
|
|
|
|
NM_032444.4(SLX4):c.2328-11T>C
|
rs1390856264
|
|
|
NM_032444.4(SLX4):c.2328-11T>G
|
|
|
|
NM_032444.4(SLX4):c.2328-17G>C
|
|
|
|
NM_032444.4(SLX4):c.2328-20G>A
|
|
|
|
NM_032444.4(SLX4):c.2328-9G>A
|
rs73505419
|
|
|
NM_032444.4(SLX4):c.2358C>T (p.Cys786=)
|
|
|
|
NM_032444.4(SLX4):c.2364G>A (p.Gln788=)
|
|
|
|
NM_032444.4(SLX4):c.2388G>A (p.Glu796=)
|
rs113965715
|
|
|
NM_032444.4(SLX4):c.2391C>A (p.Gly797=)
|
rs147208178
|
|
|
NM_032444.4(SLX4):c.2391C>T (p.Gly797=)
|
|
|
|
NM_032444.4(SLX4):c.2409G>A (p.Lys803=)
|
|
|
|
NM_032444.4(SLX4):c.2430C>T (p.Ser810=)
|
|
|
|
NM_032444.4(SLX4):c.2436C>G (p.Ala812=)
|
rs769330696
|
|
|
NM_032444.4(SLX4):c.2460G>A (p.Arg820=)
|
|
|
|
NM_032444.4(SLX4):c.2481G>A (p.Glu827=)
|
rs746049343
|
|
|
NM_032444.4(SLX4):c.2535C>T (p.Asn845=)
|
rs1174692641
|
|
|
NM_032444.4(SLX4):c.255G>A (p.Gln85=)
|
|
|
|
NM_032444.4(SLX4):c.2577T>C (p.Ala859=)
|
|
|
|
NM_032444.4(SLX4):c.2586A>G (p.Arg862=)
|
|
|
|
NM_032444.4(SLX4):c.2616T>C (p.Gly872=)
|
|
|
|
NM_032444.4(SLX4):c.2619C>T (p.Ala873=)
|
|
|
|
NM_032444.4(SLX4):c.2622C>G (p.Gly874=)
|
rs1407514660
|
|
|
NM_032444.4(SLX4):c.2622C>T (p.Gly874=)
|
|
|
|
NM_032444.4(SLX4):c.2625G>A (p.Glu875=)
|
|
|
|
NM_032444.4(SLX4):c.264C>T (p.Ser88=)
|
|
|
|
NM_032444.4(SLX4):c.2670C>T (p.Leu890=)
|
|
|
|
NM_032444.4(SLX4):c.2706G>A (p.Lys902=)
|
rs764936885
|
|
|
NM_032444.4(SLX4):c.2709G>A (p.Val903=)
|
|
|
|
NM_032444.4(SLX4):c.2730G>A (p.Glu910=)
|
|
|
|
NM_032444.4(SLX4):c.2736A>G (p.Gly912=)
|
rs1162992846
|
|
|
NM_032444.4(SLX4):c.273A>G (p.Lys91=)
|
|
|
|
NM_032444.4(SLX4):c.2742T>C (p.Asp914=)
|
rs1060504342
|
|
|
NM_032444.4(SLX4):c.2748C>G (p.Ala916=)
|
|
|
|
NM_032444.4(SLX4):c.2748C>T (p.Ala916=)
|
rs374815885
|
|
|
NM_032444.4(SLX4):c.2757C>A (p.Thr919=)
|
rs2151125207
|
|
|
NM_032444.4(SLX4):c.2775G>A (p.Gln925=)
|
|
|
|
NM_032444.4(SLX4):c.2808A>G (p.Ser936=)
|
rs762090546
|
|
|
NM_032444.4(SLX4):c.2808A>T (p.Ser936=)
|
|
|
|
NM_032444.4(SLX4):c.2820A>G (p.Gly940=)
|
rs2151125020
|
|
|
NM_032444.4(SLX4):c.2826G>A (p.Glu942=)
|
rs2040579766
|
|
|
NM_032444.4(SLX4):c.2877C>T (p.Ser959=)
|
|
|
|
NM_032444.4(SLX4):c.2901A>C (p.Ala967=)
|
|
|
|
NM_032444.4(SLX4):c.2919T>C (p.Ser973=)
|
rs2151124792
|
|
|
NM_032444.4(SLX4):c.2943G>T (p.Gly981=)
|
|
|
|
NM_032444.4(SLX4):c.2961C>T (p.Phe987=)
|
|
|
|
NM_032444.4(SLX4):c.3018A>G (p.Glu1006=)
|
rs1596522113
|
|
|
NM_032444.4(SLX4):c.3033C>T (p.Val1011=)
|
rs867272668
|
|
|
NM_032444.4(SLX4):c.3045G>A (p.Gly1015=)
|
rs1334575564
|
|
|
NM_032444.4(SLX4):c.3046C>T (p.Leu1016=)
|
rs141412644
|
|
|
NM_032444.4(SLX4):c.3051G>A (p.Glu1017=)
|
rs1306302241
|
|
|
NM_032444.4(SLX4):c.306C>G (p.Thr102=)
|
rs752275926
|
|
|
NM_032444.4(SLX4):c.3081A>T (p.Ala1027=)
|
rs2151124384
|
|
|
NM_032444.4(SLX4):c.3087A>G (p.Pro1029=)
|
|
|
|
NM_032444.4(SLX4):c.3090G>T (p.Pro1030=)
|
rs771531829
|
|
|
NM_032444.4(SLX4):c.3126C>T (p.Gly1042=)
|
|
|
|
NM_032444.4(SLX4):c.3159G>C (p.Gly1053=)
|
rs1344092780
|
|
|
NM_032444.4(SLX4):c.315C>T (p.Gly105=)
|
rs558641534
|
|
|
NM_032444.4(SLX4):c.3162G>C (p.Ser1054=)
|
rs76488917
|
|
|
NM_032444.4(SLX4):c.3174A>G (p.Thr1058=)
|
rs780024295
|
|
|
NM_032444.4(SLX4):c.3180G>A (p.Arg1060=)
|
rs747169328
|
|
|
NM_032444.4(SLX4):c.3180G>C (p.Arg1060=)
|
rs747169328
|
|
|
NM_032444.4(SLX4):c.3237A>G (p.Pro1079=)
|
|
|
|
NM_032444.4(SLX4):c.3237A>T (p.Pro1079=)
|
rs145055283
|
|
|
NM_032444.4(SLX4):c.3270G>A (p.Thr1090=)
|
|
|
|
NM_032444.4(SLX4):c.3306G>A (p.Glu1102=)
|
rs2151123871
|
|
|
NM_032444.4(SLX4):c.3319C>T (p.Leu1107=)
|
|
|
|
NM_032444.4(SLX4):c.3345G>A (p.Leu1115=)
|
rs374238222
|
|
|
NM_032444.4(SLX4):c.3360A>G (p.Lys1120=)
|
|
|
|
NM_032444.4(SLX4):c.3366G>A (p.Pro1122=)
|
rs752209638
|
|
|
NM_032444.4(SLX4):c.336G>T (p.Pro112=)
|
|
|
|
NM_032444.4(SLX4):c.3399T>C (p.His1133=)
|
|
|
|
NM_032444.4(SLX4):c.33C>T (p.Gly11=)
|
rs1274120704
|
|
|
NM_032444.4(SLX4):c.3420A>G (p.Lys1140=)
|
|
|
|
NM_032444.4(SLX4):c.3423T>C (p.Ser1141=)
|
rs1596521552
|
|
|
NM_032444.4(SLX4):c.342C>G (p.Gly114=)
|
|
|
|
NM_032444.4(SLX4):c.3441A>G (p.Glu1147=)
|
|
|
|
NM_032444.4(SLX4):c.345C>T (p.Ser115=)
|
rs1442020030
|
|
|
NM_032444.4(SLX4):c.3480G>A (p.Glu1160=)
|
|
|
|
NM_032444.4(SLX4):c.3528G>A (p.Leu1176=)
|
|
|
|
NM_032444.4(SLX4):c.354T>C (p.Pro118=)
|
|
|
|
NM_032444.4(SLX4):c.3555C>T (p.Ser1185=)
|
|
|
|
NM_032444.4(SLX4):c.3561G>A (p.Arg1187=)
|
rs2151123357
|
|
|
NM_032444.4(SLX4):c.3571C>T (p.Leu1191=)
|
|
|
|
NM_032444.4(SLX4):c.3573G>C (p.Leu1191=)
|
|
|
|
NM_032444.4(SLX4):c.3582C>A (p.Ile1194=)
|
|
|
|
NM_032444.4(SLX4):c.3600T>C (p.Asp1200=)
|
|
|
|
NM_032444.4(SLX4):c.3630C>T (p.Ser1210=)
|
rs1567169951
|
|
|
NM_032444.4(SLX4):c.3640C>T (p.Leu1214=)
|
|
|
|
NM_032444.4(SLX4):c.3651G>A (p.Glu1217=)
|
|
|
|
NM_032444.4(SLX4):c.3666G>A (p.Leu1222=)
|
rs2151123132
|
|
|
NM_032444.4(SLX4):c.366G>A (p.Lys122=)
|
rs149626570
|
|
|
NM_032444.4(SLX4):c.3678G>C (p.Arg1226=)
|
|
|
|
NM_032444.4(SLX4):c.3681C>T (p.Gly1227=)
|
|
|
|
NM_032444.4(SLX4):c.3711G>C (p.Leu1237=)
|
|
|
|
NM_032444.4(SLX4):c.3720C>T (p.Asp1240=)
|
|
|
|
NM_032444.4(SLX4):c.3726G>A (p.Glu1242=)
|
rs2040561177
|
|
|
NM_032444.4(SLX4):c.3768G>A (p.Leu1256=)
|
rs757548615
|
|
|
NM_032444.4(SLX4):c.3783G>T (p.Pro1261=)
|
rs77699867
|
|
|
NM_032444.4(SLX4):c.3786G>A (p.Leu1262=)
|
rs1555450110
|
|
|
NM_032444.4(SLX4):c.3807T>C (p.Cys1269=)
|
|
|
|
NM_032444.4(SLX4):c.3825C>T (p.Ile1275=)
|
|
|
|
NM_032444.4(SLX4):c.3849C>G (p.Ala1283=)
|
rs200928592
|
|
|
NM_032444.4(SLX4):c.3849C>T (p.Ala1283=)
|
rs200928592
|
|
|
NM_032444.4(SLX4):c.3852G>A (p.Val1284=)
|
rs2151122647
|
|
|
NM_032444.4(SLX4):c.3900A>G (p.Glu1300=)
|
rs1060504341
|
|
|
NM_032444.4(SLX4):c.3939C>G (p.Pro1313=)
|
|
|
|
NM_032444.4(SLX4):c.3939C>T (p.Pro1313=)
|
|
|
|
NM_032444.4(SLX4):c.3954C>G (p.Pro1318=)
|
|
|
|
NM_032444.4(SLX4):c.3960A>G (p.Thr1320=)
|
|
|
|
NM_032444.4(SLX4):c.3990A>C (p.Pro1330=)
|
rs2151122324
|
|
|
NM_032444.4(SLX4):c.399G>A (p.Pro133=)
|
|
|
|
NM_032444.4(SLX4):c.4011G>A (p.Arg1337=)
|
rs1487018930
|
|
|
NM_032444.4(SLX4):c.4044C>T (p.Pro1348=)
|
rs1332165366
|
|
|
NM_032444.4(SLX4):c.4056G>T (p.Pro1352=)
|
|
|
|
NM_032444.4(SLX4):c.4057C>A (p.His1353Asn)
|
rs142205392
|
|
|
NM_032444.4(SLX4):c.4069C>T (p.Leu1357=)
|
|
|
|
NM_032444.4(SLX4):c.4098C>G (p.Arg1366=)
|
rs770811758
|
|
|
NM_032444.4(SLX4):c.40T>C (p.Leu14=)
|
|
|
|
NM_032444.4(SLX4):c.4122G>A (p.Leu1374=)
|
|
|
|
NM_032444.4(SLX4):c.414T>C (p.Asn138=)
|
rs2151139252
|
|
|
NM_032444.4(SLX4):c.4167G>A (p.Ala1389=)
|
rs541433695
|
|
|
NM_032444.4(SLX4):c.4191C>T (p.Asp1397=)
|
|
|
|
NM_032444.4(SLX4):c.4203G>A (p.Glu1401=)
|
|
|
|
NM_032444.4(SLX4):c.420G>A (p.Glu140=)
|
rs753015235
|
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
|
NM_032444.4(SLX4):c.423G>T (p.Gly141=)
|
rs111405249
|
|
|
NM_032444.4(SLX4):c.4251T>C (p.Ser1417=)
|
|
|
|
NM_032444.4(SLX4):c.426T>A (p.Gly142=)
|
rs377500336
|
|
|
NM_032444.4(SLX4):c.4281C>T (p.Cys1427=)
|
rs2151121647
|
|
|
NM_032444.4(SLX4):c.4293G>A (p.Glu1431=)
|
rs2151121628
|
|
|
NM_032444.4(SLX4):c.4302G>A (p.Ser1434=)
|
rs768311081
|
|
|
NM_032444.4(SLX4):c.4311C>G (p.Pro1437=)
|
|
|
|
NM_032444.4(SLX4):c.4314T>C (p.Ile1438=)
|
|
|
|
NM_032444.4(SLX4):c.4335G>A (p.Arg1445=)
|
rs139377113
|
|
|
NM_032444.4(SLX4):c.4362C>G (p.Pro1454=)
|
|
|
|
NM_032444.4(SLX4):c.4368C>T (p.Arg1456=)
|
|
|
|
NM_032444.4(SLX4):c.4371G>A (p.Arg1457=)
|
rs745485209
|
|
|
NM_032444.4(SLX4):c.4404C>T (p.Arg1468=)
|
|
|
|
NM_032444.4(SLX4):c.4428C>T (p.Thr1476=)
|
|
|
|
NM_032444.4(SLX4):c.4431C>G (p.Pro1477=)
|
|
|
|
NM_032444.4(SLX4):c.4452C>G (p.Thr1484=)
|
|
|
|
NM_032444.4(SLX4):c.4479G>C (p.Ser1493=)
|
|
|
|
NM_032444.4(SLX4):c.4485G>A (p.Ala1495=)
|
rs140872903
|
|
|
NM_032444.4(SLX4):c.4488C>T (p.Gly1496=)
|
rs2151121109
|
|
|
NM_032444.4(SLX4):c.4504A>C (p.Arg1502=)
|
|
|
|
NM_032444.4(SLX4):c.4509G>A (p.Pro1503=)
|
|
|
|
NM_032444.4(SLX4):c.4524G>T (p.Ser1508=)
|
rs1423670990
|
|
|
NM_032444.4(SLX4):c.4554G>A (p.Glu1518=)
|
|
|
|
NM_032444.4(SLX4):c.4560G>A (p.Arg1520=)
|
rs2040541238
|
|
|
NM_032444.4(SLX4):c.456G>A (p.Val152=)
|
|
|
|
NM_032444.4(SLX4):c.4593A>C (p.Pro1531=)
|
rs2151120865
|
|
|
NM_032444.4(SLX4):c.4596C>T (p.Ser1532=)
|
rs527733303
|
|
|
NM_032444.4(SLX4):c.4617C>G (p.Pro1539=)
|
|
|
|
NM_032444.4(SLX4):c.4617C>T (p.Pro1539=)
|
rs545723462
|
|
|
NM_032444.4(SLX4):c.4636+17G>A
|
|
|
|
NM_032444.4(SLX4):c.4636+20G>A
|
|
|
|
NM_032444.4(SLX4):c.4644T>G (p.Ala1548=)
|
|
|
|
NM_032444.4(SLX4):c.4668C>G (p.Pro1556=)
|
|
|
|
NM_032444.4(SLX4):c.4686G>A (p.Pro1562=)
|
rs752013105
|
|
|
NM_032444.4(SLX4):c.4713G>A (p.Thr1571=)
|
|
|
|
NM_032444.4(SLX4):c.4728G>A (p.Lys1576=)
|
|
|
|
NM_032444.4(SLX4):c.4739+15A>G
|
|
|
|
NM_032444.4(SLX4):c.4740-13G>A
|
rs1266530523
|
|
|
NM_032444.4(SLX4):c.4740-16C>T
|
|
|
|
NM_032444.4(SLX4):c.4740-18C>T
|
|
|
|
NM_032444.4(SLX4):c.4740-8T>A
|
|
|
|
NM_032444.4(SLX4):c.4749C>A (p.Val1583=)
|
|
|
|
NM_032444.4(SLX4):c.4783C>T (p.Leu1595=)
|
|
|
|
NM_032444.4(SLX4):c.4809C>T (p.His1603=)
|
|
|
|
NM_032444.4(SLX4):c.4816C>T (p.Leu1606=)
|
|
|
|
NM_032444.4(SLX4):c.4818G>C (p.Leu1606=)
|
rs2151117040
|
|
|
NM_032444.4(SLX4):c.483G>A (p.Gln161=)
|
|
|
|
NM_032444.4(SLX4):c.4845G>A (p.Gln1615=)
|
rs988625732
|
|
|
NM_032444.4(SLX4):c.4860G>A (p.Leu1620=)
|
rs1415687441
|
|
|
NM_032444.4(SLX4):c.4860G>T (p.Leu1620=)
|
|
|
|
NM_032444.4(SLX4):c.4872T>G (p.Pro1624=)
|
|
|
|
NM_032444.4(SLX4):c.4896G>A (p.Gln1632=)
|
|
|
|
NM_032444.4(SLX4):c.4950A>G (p.Gly1650=)
|
|
|
|
NM_032444.4(SLX4):c.4962T>C (p.His1654=)
|
rs1407754407
|
|
|
NM_032444.4(SLX4):c.4968C>T (p.Pro1656=)
|
|
|
|
NM_032444.4(SLX4):c.4983G>A (p.Lys1661=)
|
rs769196428
|
|
|
NM_032444.4(SLX4):c.4992C>T (p.Gly1664=)
|
|
|
|
NM_032444.4(SLX4):c.5040G>T (p.Arg1680Ser)
|
rs199592185
|
|
|
NM_032444.4(SLX4):c.5049C>A (p.Thr1683=)
|
rs1596515370
|
|
|
NM_032444.4(SLX4):c.5076T>C (p.Asp1692=)
|
|
|
|
NM_032444.4(SLX4):c.5079C>T (p.Asp1693=)
|
|
|
|
NM_032444.4(SLX4):c.507G>A (p.Ser169=)
|
|
|
|
NM_032444.4(SLX4):c.5085G>A (p.Gln1695=)
|
|
|
|
NM_032444.4(SLX4):c.5088C>T (p.Ile1696=)
|
rs745883123
|
|
|
NM_032444.4(SLX4):c.5097T>C (p.Ser1699=)
|
rs202099433
|
|
|
NM_032444.4(SLX4):c.5109G>C (p.Val1703=)
|
|
|
|
NM_032444.4(SLX4):c.5139C>T (p.Ser1713=)
|
rs748115513
|
|
|
NM_032444.4(SLX4):c.513C>T (p.Asn171=)
|
|
|
|
NM_032444.4(SLX4):c.5153+16C>T
|
|
|
|
NM_032444.4(SLX4):c.5154-13T>C
|
|
|
|
NM_032444.4(SLX4):c.5154-19C>T
|
|
|
|
NM_032444.4(SLX4):c.5169G>A (p.Glu1723=)
|
rs2151116036
|
|
|
NM_032444.4(SLX4):c.5220C>T (p.Val1740=)
|
|
|
|
NM_032444.4(SLX4):c.5229G>C (p.Ser1743=)
|
|
|
|
NM_032444.4(SLX4):c.5238C>T (p.Ala1746=)
|
|
|
|
NM_032444.4(SLX4):c.5244G>A (p.Gln1748=)
|
rs2151115866
|
|
|
NM_032444.4(SLX4):c.5250G>A (p.Ala1750=)
|
rs370495748
|
|
|
NM_032444.4(SLX4):c.5250G>C (p.Ala1750=)
|
|
|
|
NM_032444.4(SLX4):c.5262G>A (p.Glu1754=)
|
rs1158728649
|
|
|
NM_032444.4(SLX4):c.5271G>A (p.Arg1757=)
|
rs761845224
|
|
|
NM_032444.4(SLX4):c.5292G>A (p.Pro1764=)
|
|
|
|
NM_032444.4(SLX4):c.5298G>C (p.Leu1766=)
|
|
|
|
NM_032444.4(SLX4):c.5316G>A (p.Leu1772=)
|
|
|
|
NM_032444.4(SLX4):c.5325C>G (p.Pro1775=)
|
rs1596514559
|
|
|
NM_032444.4(SLX4):c.5325C>T (p.Pro1775=)
|
|
|
|
NM_032444.4(SLX4):c.535+13C>T
|
|
|
|
NM_032444.4(SLX4):c.535+8G>T
|
rs1438562094
|
|
|
NM_032444.4(SLX4):c.5352G>A (p.Glu1784=)
|
|
|
|
NM_032444.4(SLX4):c.536-11C>T
|
rs988977923
|
|
|
NM_032444.4(SLX4):c.5364C>T (p.Asn1788=)
|
|
|
|
NM_032444.4(SLX4):c.5389C>T (p.Leu1797=)
|
|
|
|
NM_032444.4(SLX4):c.5409C>A (p.Thr1803=)
|
|
|
|
NM_032444.4(SLX4):c.540T>C (p.Asn180=)
|
|
|
|
NM_032444.4(SLX4):c.5412C>T (p.His1804=)
|
|
|
|
NM_032444.4(SLX4):c.5467C>A (p.Arg1823=)
|
rs771230395
|
|
|
NM_032444.4(SLX4):c.5490G>A (p.Lys1830=)
|
|
|
|
NM_032444.4(SLX4):c.585A>G (p.Thr195=)
|
|
|
|
NM_032444.4(SLX4):c.60G>A (p.Leu20=)
|
rs200430973
|
|
|
NM_032444.4(SLX4):c.628C>T (p.Leu210=)
|
rs772125734
|
|
|
NM_032444.4(SLX4):c.642G>A (p.Gln214=)
|
rs2151137919
|
|
|
NM_032444.4(SLX4):c.657A>C (p.Ala219=)
|
rs899168599
|
|
|
NM_032444.4(SLX4):c.663C>T (p.Pro221=)
|
|
|
|
NM_032444.4(SLX4):c.666G>A (p.Glu222=)
|
|
|
|
NM_032444.4(SLX4):c.66C>T (p.Ala22=)
|
rs774837514
|
|
|
NM_032444.4(SLX4):c.681T>G (p.Ala227=)
|
|
|
|
NM_032444.4(SLX4):c.690G>A (p.Glu230=)
|
|
|
|
NM_032444.4(SLX4):c.696C>A (p.Ser232=)
|
|
|
|
NM_032444.4(SLX4):c.738A>G (p.Gln246=)
|
rs905819290
|
|
|
NM_032444.4(SLX4):c.741G>A (p.Glu247=)
|
|
|
|
NM_032444.4(SLX4):c.753G>T (p.Ala251=)
|
|
|
|
NM_032444.4(SLX4):c.760+12G>A
|
rs2151137685
|
|
|
NM_032444.4(SLX4):c.760+18C>T
|
|
|
|
NM_032444.4(SLX4):c.760+19T>A
|
|
|
|
NM_032444.4(SLX4):c.760+8G>T
|
rs746864879
|
|
|
NM_032444.4(SLX4):c.761-14G>A
|
|
|
|
NM_032444.4(SLX4):c.768G>T (p.Gly256=)
|
|
|
|
NM_032444.4(SLX4):c.798T>C (p.Ala266=)
|
|
|
|
NM_032444.4(SLX4):c.81C>T (p.Asp27=)
|
|
|
|
NM_032444.4(SLX4):c.852T>C (p.His284=)
|
rs770412592
|
|
|
NM_032444.4(SLX4):c.906C>T (p.Asn302=)
|
rs1397863706
|
|
|
NM_032444.4(SLX4):c.950+11C>T
|
|
|
|
NM_032444.4(SLX4):c.950+17C>T
|
|
|
|
NM_032444.4(SLX4):c.950+18C>T
|
|
|
|
NM_032444.4(SLX4):c.951-11T>C
|
|
|
|
NM_032444.4(SLX4):c.951-12G>T
|
rs1160882480
|
|
|
NM_032444.4(SLX4):c.951-13T>C
|
|
|
|
NM_032444.4(SLX4):c.951-16G>T
|
rs2151134218
|
|
|
NM_032444.4(SLX4):c.951-20T>C
|
|
|
|
NM_032444.4(SLX4):c.955T>C (p.Leu319=)
|
|
|
|
NM_032444.4(SLX4):c.957G>A (p.Leu319=)
|
|
|
|
NM_032444.4(SLX4):c.966T>A (p.Ala322=)
|
|
|
|
NM_032444.4(SLX4):c.996G>A (p.Gln332=)
|
|
|
|
NM_032634.4(PIGO):c.1035T>G (p.Ala345=)
|
rs962272098
|
|
|
NM_032634.4(PIGO):c.1086C>G (p.Ala362=)
|
|
|
|
NM_032634.4(PIGO):c.1095A>T (p.Ser365=)
|
rs771034645
|
|
|
NM_032634.4(PIGO):c.1113T>C (p.Ala371=)
|
|
|
|
NM_032634.4(PIGO):c.1119+10C>T
|
|
|
|
NM_032634.4(PIGO):c.1120-12T>C
|
|
|
|
NM_032634.4(PIGO):c.1120-15C>T
|
rs77344591
|
|
|
NM_032634.4(PIGO):c.1120-16A>C
|
|
|
|
NM_032634.4(PIGO):c.1120-17G>C
|
|
|
|
NM_032634.4(PIGO):c.1120-29_1120-9del
|
|
|
|
NM_032634.4(PIGO):c.1120-5G>C
|
rs1829493650
|
|
|
NM_032634.4(PIGO):c.1233C>T (p.Leu411=)
|
|
|
|
NM_032634.4(PIGO):c.1236G>A (p.Gln412=)
|
|
|
|
NM_032634.4(PIGO):c.1257G>A (p.Ala419=)
|
|
|
|
NM_032634.4(PIGO):c.1261C>T (p.Leu421=)
|
|
|
|
NM_032634.4(PIGO):c.1266G>A (p.Pro422=)
|
rs758742085
|
|
|
NM_032634.4(PIGO):c.1281G>A (p.Glu427=)
|
rs1829484190
|
|
|
NM_032634.4(PIGO):c.1335T>A (p.Arg445=)
|
rs2131077185
|
|
|
NM_032634.4(PIGO):c.1344G>C (p.Leu448=)
|
|
|
|
NM_032634.4(PIGO):c.1356G>A (p.Ala452=)
|
rs759532728
|
|
|
NM_032634.4(PIGO):c.1356G>T (p.Ala452=)
|
rs759532728
|
|
|
NM_032634.4(PIGO):c.1359G>T (p.Gly453=)
|
rs368706055
|
|
|
NM_032634.4(PIGO):c.1428C>T (p.Gly476=)
|
|
|
|
NM_032634.4(PIGO):c.1434A>T (p.Pro478=)
|
|
|
|
NM_032634.4(PIGO):c.148C>T (p.Leu50=)
|
|
|
|
NM_032634.4(PIGO):c.1500C>A (p.Leu500=)
|
|
|
|
NM_032634.4(PIGO):c.153A>C (p.Pro51=)
|
rs758429983
|
|
|
NM_032634.4(PIGO):c.1575T>C (p.Phe525=)
|
rs2131076597
|
|
|
NM_032634.4(PIGO):c.1578G>T (p.Leu526=)
|
|
|
|
NM_032634.4(PIGO):c.1587C>T (p.Ala529=)
|
|
|
|
NM_032634.4(PIGO):c.159G>T (p.Gly53=)
|
rs2131084364
|
|
|
NM_032634.4(PIGO):c.1615C>T (p.Leu539=)
|
|
|
|
NM_032634.4(PIGO):c.1638T>C (p.Pro546=)
|
|
|
|
NM_032634.4(PIGO):c.1647C>G (p.Val549=)
|
rs2131076353
|
|
|
NM_032634.4(PIGO):c.1648C>T (p.Leu550=)
|
rs2131076346
|
|
|
NM_032634.4(PIGO):c.1653A>G (p.Leu551=)
|
|
|
|
NM_032634.4(PIGO):c.1657C>T (p.Leu553=)
|
rs1794940212
|
|
|
NM_032634.4(PIGO):c.1674T>C (p.Ala558=)
|
|
|
|
NM_032634.4(PIGO):c.1686T>C (p.Ser562=)
|
|
|
|
NM_032634.4(PIGO):c.1701A>G (p.Val567=)
|
|
|
|
NM_032634.4(PIGO):c.1719C>T (p.Thr573=)
|
rs2131076194
|
|
|
NM_032634.4(PIGO):c.1722C>T (p.Pro574=)
|
|
|
|
NM_032634.4(PIGO):c.1729T>C (p.Leu577=)
|
rs2131076165
|
|
|
NM_032634.4(PIGO):c.1740C>T (p.Phe580=)
|
|
|
|
NM_032634.4(PIGO):c.1758C>G (p.Val586=)
|
rs144103228
|
|
|
NM_032634.4(PIGO):c.1758C>T (p.Val586=)
|
rs144103228
|
|
|
NM_032634.4(PIGO):c.1761G>A (p.Gln587=)
|
rs1587165620
|
|
|
NM_032634.4(PIGO):c.1821T>G (p.Thr607=)
|
|
|
|
NM_032634.4(PIGO):c.1824A>C (p.Ser608=)
|
|
|
|
NM_032634.4(PIGO):c.1887T>C (p.Leu629=)
|
|
|
|
NM_032634.4(PIGO):c.1932G>A (p.Glu644=)
|
|
|
|
NM_032634.4(PIGO):c.2025G>T (p.Ala675=)
|
|
|
|
NM_032634.4(PIGO):c.2028G>A (p.Ala676=)
|
|
|
|
NM_032634.4(PIGO):c.2038C>T (p.Leu680=)
|
rs2131075299
|
|
|
NM_032634.4(PIGO):c.2040G>A (p.Leu680=)
|
rs41274877
|
|
|
NM_032634.4(PIGO):c.2070C>T (p.Arg690=)
|
rs770497870
|
|
|
NM_032634.4(PIGO):c.2106C>G (p.Leu702=)
|
rs1829433013
|
|
|
NM_032634.4(PIGO):c.2106C>T (p.Leu702=)
|
|
|
|
NM_032634.4(PIGO):c.210T>C (p.Val70=)
|
rs1829622496
|
|
|
NM_032634.4(PIGO):c.2169G>T (p.Ser723=)
|
rs780502790
|
|
|
NM_032634.4(PIGO):c.2193T>G (p.Arg731=)
|
|
|
|
NM_032634.4(PIGO):c.219G>A (p.Val73=)
|
|
|
|
NM_032634.4(PIGO):c.2205G>C (p.Leu735=)
|
rs565127635
|
|
|
NM_032634.4(PIGO):c.2220C>G (p.Ser740=)
|
rs752508027
|
|
|
NM_032634.4(PIGO):c.2265C>T (p.Leu755=)
|
rs746204138
|
|
|
NM_032634.4(PIGO):c.2289G>A (p.Val763=)
|
rs751387350
|
|
|
NM_032634.4(PIGO):c.2307T>C (p.Ala769=)
|
rs1829420389
|
|
|
NM_032634.4(PIGO):c.2325G>A (p.Arg775=)
|
|
|
|
NM_032634.4(PIGO):c.2331G>A (p.Arg777=)
|
|
|
|
NM_032634.4(PIGO):c.2340C>T (p.Leu780=)
|
rs1437561417
|
|
|
NM_032634.4(PIGO):c.2352A>G (p.Ser784=)
|
rs1013303269
|
|
|
NM_032634.4(PIGO):c.2361C>A (p.Pro787=)
|
rs144233446
|
|
|
NM_032634.4(PIGO):c.2361C>T (p.Pro787=)
|
rs144233446
|
|
|
NM_032634.4(PIGO):c.2364T>C (p.Thr788=)
|
|
|
|
NM_032634.4(PIGO):c.2364T>G (p.Thr788=)
|
rs571101716
|
|
|
NM_032634.4(PIGO):c.2370A>G (p.Gln790=)
|
|
|
|
NM_032634.4(PIGO):c.2379G>A (p.Leu793=)
|
|
|
|
NM_032634.4(PIGO):c.2400C>A (p.Ile800=)
|
|
|
|
NM_032634.4(PIGO):c.2406A>G (p.Arg802=)
|
rs2131073918
|
|
|
NM_032634.4(PIGO):c.240T>C (p.Phe80=)
|
|
|
|
NM_032634.4(PIGO):c.2448A>G (p.Lys816=)
|
|
|
|
NM_032634.4(PIGO):c.246C>T (p.Phe82=)
|
rs748671184
|
|
|
NM_032634.4(PIGO):c.2499A>G (p.Ser833=)
|
|
|
|
NM_032634.4(PIGO):c.2499A>T (p.Ser833=)
|
rs2131073558
|
|
|
NM_032634.4(PIGO):c.2524C>T (p.Leu842=)
|
rs1381492177
|
|
|
NM_032634.4(PIGO):c.2553T>C (p.His851=)
|
rs776946348
|
|
|
NM_032634.4(PIGO):c.2574G>A (p.Val858=)
|
|
|
|
NM_032634.4(PIGO):c.2598C>T (p.Ser866=)
|
rs2131073379
|
|
|
NM_032634.4(PIGO):c.2607C>T (p.Leu869=)
|
rs1587161703
|
|
|
NM_032634.4(PIGO):c.2616G>C (p.Leu872=)
|
|
|
|
NM_032634.4(PIGO):c.2647+14C>T
|
|
|
|
NM_032634.4(PIGO):c.2647+15T>C
|
|
|
|
NM_032634.4(PIGO):c.2647+7A>T
|
rs763374350
|
|
|
NM_032634.4(PIGO):c.2648-16A>G
|
|
|
|
NM_032634.4(PIGO):c.2648-7C>T
|
|
|
|
NM_032634.4(PIGO):c.2649T>C (p.Gly883=)
|
|
|
|
NM_032634.4(PIGO):c.267C>T (p.His89=)
|
rs781454559
|
|
|
NM_032634.4(PIGO):c.2682T>C (p.Ala894=)
|
|
|
|
NM_032634.4(PIGO):c.2700A>C (p.Thr900=)
|
rs749138418
|
|
|
NM_032634.4(PIGO):c.2784T>C (p.His928=)
|
|
|
|
NM_032634.4(PIGO):c.279G>A (p.Glu93=)
|
rs1192285768
|
|
|
NM_032634.4(PIGO):c.2832T>C (p.Phe944=)
|
|
|
|
NM_032634.4(PIGO):c.2854+19C>T
|
|
|
|
NM_032634.4(PIGO):c.2854+7C>G
|
rs768338180
|
|
|
NM_032634.4(PIGO):c.2855-19A>G
|
rs1829357503
|
|
|
NM_032634.4(PIGO):c.2855-20C>T
|
|
|
|
NM_032634.4(PIGO):c.2871C>T (p.Leu957=)
|
rs760439971
|
|
|
NM_032634.4(PIGO):c.2889G>A (p.Leu963=)
|
rs959471469
|
|
|
NM_032634.4(PIGO):c.28C>T (p.Leu10=)
|
rs2131084852
|
|
|
NM_032634.4(PIGO):c.2901A>G (p.Gln967=)
|
|
|
|
NM_032634.4(PIGO):c.2958C>T (p.Pro986=)
|
rs368361555
|
|
|
NM_032634.4(PIGO):c.2967A>G (p.Glu989=)
|
|
|
|
NM_032634.4(PIGO):c.2979G>A (p.Leu993=)
|
rs1554672011
|
|
|
NM_032634.4(PIGO):c.297C>T (p.Pro99=)
|
|
|
|
NM_032634.4(PIGO):c.2991G>C (p.Arg997=)
|
|
|
|
NM_032634.4(PIGO):c.3003G>A (p.Ala1001=)
|
rs1367586941
|
|
|
NM_032634.4(PIGO):c.3048C>T (p.Tyr1016=)
|
rs1587157717
|
|
|
NM_032634.4(PIGO):c.3066T>A (p.Ile1022=)
|
|
|
|
NM_032634.4(PIGO):c.3070-12C>T
|
|
|
|
NM_032634.4(PIGO):c.3070-12CTC[2]
|
rs1462457627
|
|
|
NM_032634.4(PIGO):c.3070-14_3070-12del
|
rs2131069422
|
|
|
NM_032634.4(PIGO):c.3073C>T (p.Leu1025=)
|
|
|
|
NM_032634.4(PIGO):c.3078C>T (p.Ala1026=)
|
rs2131069378
|
|
|
NM_032634.4(PIGO):c.3099C>T (p.Ile1033=)
|
|
|
|
NM_032634.4(PIGO):c.3126A>G (p.Lys1042=)
|
|
|
|
NM_032634.4(PIGO):c.3140+11T>A
|
|
|
|
NM_032634.4(PIGO):c.3141-19T>G
|
|
|
|
NM_032634.4(PIGO):c.3141-9T>A
|
rs374227554
|
|
|
NM_032634.4(PIGO):c.3141-9T>C
|
rs374227554
|
|
|
NM_032634.4(PIGO):c.3174C>T (p.Ser1058=)
|
rs1587155037
|
|
|
NM_032634.4(PIGO):c.3198A>T (p.Ile1066=)
|
|
|
|
NM_032634.4(PIGO):c.3207G>A (p.Val1069=)
|
rs2131068725
|
|
|
NM_032634.4(PIGO):c.3216G>T (p.Val1072=)
|
|
|
|
NM_032634.4(PIGO):c.3219T>C (p.Asp1073=)
|
|
|
|
NM_032634.4(PIGO):c.3231C>T (p.Ser1077=)
|
rs766677182
|
|
|
NM_032634.4(PIGO):c.3267G>A (p.Arg1089=)
|
rs771354621
|
|
|
NM_032634.4(PIGO):c.366A>G (p.Arg122=)
|
|
|
|
NM_032634.4(PIGO):c.387C>A (p.Thr129=)
|
rs765968784
|
|
|
NM_032634.4(PIGO):c.390C>G (p.Thr130=)
|
|
|
|
NM_032634.4(PIGO):c.399G>A (p.Gln133=)
|
rs1829608764
|
|
|
NM_032634.4(PIGO):c.414C>T (p.Leu138=)
|
|
|
|
NM_032634.4(PIGO):c.417C>A (p.Thr139=)
|
rs1829607462
|
|
|
NM_032634.4(PIGO):c.420T>G (p.Thr140=)
|
|
|
|
NM_032634.4(PIGO):c.511+7G>A
|
|
|
|
NM_032634.4(PIGO):c.513A>G (p.Gly171=)
|
rs2131081904
|
|
|
NM_032634.4(PIGO):c.534A>G (p.Gly178=)
|
|
|
|
NM_032634.4(PIGO):c.558C>T (p.Phe186=)
|
rs2131081766
|
|
|
NM_032634.4(PIGO):c.572C>T (p.Ser191Phe)
|
rs779897930
|
|
|
NM_032634.4(PIGO):c.591A>T (p.Pro197=)
|
rs1564000769
|
|
|
NM_032634.4(PIGO):c.615C>T (p.Asp205=)
|
rs763427139
|
|
|
NM_032634.4(PIGO):c.636G>C (p.Leu212=)
|
|
|
|
NM_032634.4(PIGO):c.655+7A>G
|
rs118002220
|
|
|
NM_032634.4(PIGO):c.656-10C>T
|
rs2131081122
|
|
|
NM_032634.4(PIGO):c.656-16G>T
|
|
|
|
NM_032634.4(PIGO):c.656-9C>T
|
|
|
|
NM_032634.4(PIGO):c.681G>A (p.Leu227=)
|
rs1169009367
|
|
|
NM_032634.4(PIGO):c.681G>C (p.Leu227=)
|
rs1169009367
|
|
|
NM_032634.4(PIGO):c.687T>C (p.Ala229=)
|
rs375778167
|
|
|
NM_032634.4(PIGO):c.696G>T (p.Leu232=)
|
|
|
|
NM_032634.4(PIGO):c.714C>G (p.Gly238=)
|
rs148186264
|
|
|
NM_032634.4(PIGO):c.779+12G>A
|
|
|
|
NM_032634.4(PIGO):c.779+17G>T
|
|
|
|
NM_032634.4(PIGO):c.780-6C>A
|
|
|
|
NM_032634.4(PIGO):c.879G>A (p.Glu293=)
|
rs753637423
|
|
|
NM_032634.4(PIGO):c.888T>C (p.Ala296=)
|
rs2131079797
|
|
|
NM_032634.4(PIGO):c.927C>T (p.Ser309=)
|
|
|
|
NM_032634.4(PIGO):c.936A>G (p.Pro312=)
|
rs148844555
|
|
|
NM_032634.4(PIGO):c.939+15G>A
|
|
|
|
NM_032634.4(PIGO):c.939+15G>T
|
|
|
|
NM_032634.4(PIGO):c.939+17T>G
|
|
|
|
NM_032634.4(PIGO):c.940-15G>A
|
|
|
|
NM_032634.4(PIGO):c.940-18A>G
|
|
|
|
NM_032634.4(PIGO):c.951G>T (p.Val317=)
|
|
|
|
NM_032634.4(PIGO):c.966C>T (p.Ser322=)
|
rs2131078980
|
|
|
NM_032634.4(PIGO):c.996C>T (p.Gly332=)
|
|
|
|
NM_032634.4(PIGO):c.9A>G (p.Lys3=)
|
rs2131084921
|
|
|
NM_058216.3(RAD51C):c.1008A>T (p.Thr336=)
|
rs1057521598
|
|
|
NM_058216.3(RAD51C):c.1012C>T (p.Leu338=)
|
rs2144046180
|
|
|
NM_058216.3(RAD51C):c.1014G>A (p.Leu338=)
|
|
|
|
NM_058216.3(RAD51C):c.1014G>C (p.Leu338=)
|
|
|
|
NM_058216.3(RAD51C):c.1023C>A (p.Ile341=)
|
rs775672074
|
|
|
NM_058216.3(RAD51C):c.1026+11T>C
|
|
|
|
NM_058216.3(RAD51C):c.1026+13T>G
|
|
|
|
NM_058216.3(RAD51C):c.1026+14G>T
|
|
|
|
NM_058216.3(RAD51C):c.1026+15A>G
|
|
|
|
NM_058216.3(RAD51C):c.1026+20A>C
|
rs764171088
|
|
|
NM_058216.3(RAD51C):c.1026+9T>G
|
rs1598535256
|
|
|
NM_058216.3(RAD51C):c.1027-10T>C
|
rs2049558368
|
|
|
NM_058216.3(RAD51C):c.1027-11T>G
|
|
|
|
NM_058216.3(RAD51C):c.1027-13T>G
|
|
|
|
NM_058216.3(RAD51C):c.1027-14T>A
|
|
|
|
NM_058216.3(RAD51C):c.1027-16A>G
|
rs1057523589
|
|
|
NM_058216.3(RAD51C):c.1027-17T>C
|
rs998655673
|
|
|
NM_058216.3(RAD51C):c.1027-7C>T
|
rs2144059941
|
|
|
NM_058216.3(RAD51C):c.1027-8T>C
|
rs1222826165
|
|
|
NM_058216.3(RAD51C):c.1027-9A>C
|
rs2144059903
|
|
|
NM_058216.3(RAD51C):c.1032G>A (p.Gln344=)
|
rs876658609
|
|
|
NM_058216.3(RAD51C):c.1047T>G (p.Thr349=)
|
rs2144060685
|
|
|
NM_058216.3(RAD51C):c.1059T>C (p.Ser353=)
|
rs1399862812
|
|
|
NM_058216.3(RAD51C):c.105T>C (p.Ala35=)
|
rs2143678775
|
|
|
NM_058216.3(RAD51C):c.1068A>G (p.Ser356=)
|
|
|
|
NM_058216.3(RAD51C):c.1069T>C (p.Leu357=)
|
rs1598540135
|
|
|
NM_058216.3(RAD51C):c.1071G>A (p.Leu357=)
|
|
|
|
NM_058216.3(RAD51C):c.1086C>T (p.Ser362=)
|
rs1555605583
|
|
|
NM_058216.3(RAD51C):c.1087T>C (p.Leu363=)
|
|
|
|
NM_058216.3(RAD51C):c.108G>A (p.Glu36=)
|
|
|
|
NM_058216.3(RAD51C):c.1092C>T (p.Ser364=)
|
rs863224805
|
|
|
NM_058216.3(RAD51C):c.1098G>A (p.Arg366=)
|
|
|
|
NM_058216.3(RAD51C):c.1098G>C (p.Arg366=)
|
rs1555605608
|
|
|
NM_058216.3(RAD51C):c.1101A>G (p.Lys367=)
|
|
|
|
NM_058216.3(RAD51C):c.1104G>A (p.Arg368=)
|
|
|
|
NM_058216.3(RAD51C):c.1107A>G (p.Ser369=)
|
rs1555605619
|
|
|
NM_058216.3(RAD51C):c.1108C>A (p.Arg370=)
|
rs756744016
|
|
|
NM_058216.3(RAD51C):c.1110A>T (p.Arg370=)
|
rs1567818815
|
|
|
NM_058216.3(RAD51C):c.1113C>T (p.Asp371=)
|
rs1598540411
|
|
|
NM_058216.3(RAD51C):c.1119G>A (p.Glu373=)
|
rs786202691
|
|
|
NM_058216.3(RAD51C):c.111A>G (p.Glu37=)
|
rs1365140814
|
|
|
NM_058216.3(RAD51C):c.1125A>G (p.Glu375=)
|
|
|
|
NM_058216.3(RAD51C):c.1126T>C (p.Leu376=)
|
rs864622632
|
|
|
NM_058216.3(RAD51C):c.1128A>G (p.Leu376=)
|
rs545024029
|
|
|
NM_058216.3(RAD51C):c.114C>T (p.Leu38=)
|
rs786202265
|
|
|
NM_058216.3(RAD51C):c.115C>T (p.Leu39=)
|
rs759149207
|
|
|
NM_058216.3(RAD51C):c.117A>G (p.Leu39=)
|
rs1158024242
|
|
|
NM_058216.3(RAD51C):c.120G>A (p.Glu40=)
|
|
|
|
NM_058216.3(RAD51C):c.126A>G (p.Lys42=)
|
rs1278628494
|
|
|
NM_058216.3(RAD51C):c.129C>G (p.Pro43=)
|
rs1555592066
|
|
|
NM_058216.3(RAD51C):c.129C>T (p.Pro43=)
|
|
|
|
NM_058216.3(RAD51C):c.132C>T (p.Ser44=)
|
rs1027059784
|
|
|
NM_058216.3(RAD51C):c.135G>A (p.Glu45=)
|
rs371608994
|
|
|
NM_058216.3(RAD51C):c.145+10C>A
|
|
|
|
NM_058216.3(RAD51C):c.145+10C>G
|
|
|
|
NM_058216.3(RAD51C):c.145+10C>T
|
|
|
|
NM_058216.3(RAD51C):c.145+11C>T
|
|
|
|
NM_058216.3(RAD51C):c.145+12T>C
|
|
|
|
NM_058216.3(RAD51C):c.145+13G>C
|
rs1177750681
|
|
|
NM_058216.3(RAD51C):c.145+14A>G
|
rs1567783355
|
|
|
NM_058216.3(RAD51C):c.145+15T>C
|
rs780116924
|
|
|
NM_058216.3(RAD51C):c.145+16G>A
|
rs1471520258
|
|
|
NM_058216.3(RAD51C):c.145+17G>A
|
rs369854656
|
|
|
NM_058216.3(RAD51C):c.145+17G>T
|
rs369854656
|
|
|
NM_058216.3(RAD51C):c.145+18C>A
|
|
|
|
NM_058216.3(RAD51C):c.145+19A>G
|
|
|
|
NM_058216.3(RAD51C):c.145+7_145+17del
|
rs2143681500
|
|
|
NM_058216.3(RAD51C):c.145+8C>T
|
rs1555592121
|
|
|
NM_058216.3(RAD51C):c.146-15T>G
|
|
|
|
NM_058216.3(RAD51C):c.146-17T>C
|
|
|
|
NM_058216.3(RAD51C):c.146-4T>C
|
rs2143716945
|
|
|
NM_058216.3(RAD51C):c.146-8A>C
|
rs201079501
|
|
|
NM_058216.3(RAD51C):c.146-9T>A
|
|
|
|
NM_058216.3(RAD51C):c.146-9T>G
|
rs2143716823
|
|
|
NM_058216.3(RAD51C):c.153G>A (p.Gly51=)
|
rs2143717416
|
|
|
NM_058216.3(RAD51C):c.15G>A (p.Thr5=)
|
|
|
|
NM_058216.3(RAD51C):c.165A>G (p.Ala55=)
|
|
|
|
NM_058216.3(RAD51C):c.174A>G (p.Leu58=)
|
rs2143718204
|
|
|
NM_058216.3(RAD51C):c.183G>A (p.Leu61=)
|
rs200531489
|
|
|
NM_058216.3(RAD51C):c.189T>A (p.Ile63=)
|
rs730881923
|
|
|
NM_058216.3(RAD51C):c.189T>C (p.Ile63=)
|
rs730881923
|
|
|
NM_058216.3(RAD51C):c.18C>T (p.Phe6=)
|
rs774685897
|
|
|
NM_058216.3(RAD51C):c.192C>T (p.Ile64=)
|
rs2143719037
|
|
|
NM_058216.3(RAD51C):c.201A>G (p.Glu67=)
|
rs1598455493
|
|
|
NM_058216.3(RAD51C):c.207C>A (p.Leu69=)
|
|
|
|
NM_058216.3(RAD51C):c.207C>T (p.Leu69=)
|
rs1057523582
|
|
|
NM_058216.3(RAD51C):c.210A>G (p.Thr70=)
|
|
|
|
NM_058216.3(RAD51C):c.21C>A (p.Arg7=)
|
rs1443654986
|
|
|
NM_058216.3(RAD51C):c.225T>C (p.Tyr75=)
|
rs1555593553
|
|
|
NM_058216.3(RAD51C):c.234A>C (p.Thr78=)
|
rs730881929
|
|
|
NM_058216.3(RAD51C):c.237T>A (p.Ser79=)
|
|
|
|
NM_058216.3(RAD51C):c.237T>C (p.Ser79=)
|
rs1555593575
|
|
|
NM_058216.3(RAD51C):c.237T>G (p.Ser79=)
|
rs1555593575
|
|
|
NM_058216.3(RAD51C):c.246C>T (p.His82=)
|
rs1555593602
|
|
|
NM_058216.3(RAD51C):c.249G>A (p.Lys83=)
|
rs145387081
|
|
|
NM_058216.3(RAD51C):c.252G>A (p.Lys84=)
|
rs786202890
|
|
|
NM_058216.3(RAD51C):c.255T>C (p.Cys85=)
|
rs1318657498
|
|
|
NM_058216.3(RAD51C):c.258A>G (p.Thr86=)
|
|
|
|
NM_058216.3(RAD51C):c.261A>G (p.Ala87=)
|
rs2143722092
|
|
|
NM_058216.3(RAD51C):c.262C>T (p.Leu88=)
|
rs786201383
|
|
|
NM_058216.3(RAD51C):c.264G>A (p.Leu88=)
|
rs2047949173
|
|
|
NM_058216.3(RAD51C):c.270T>A (p.Leu90=)
|
rs1555593651
|
|
|
NM_058216.3(RAD51C):c.270T>C (p.Leu90=)
|
rs1555593651
|
|
|
NM_058216.3(RAD51C):c.279G>A (p.Gln93=)
|
rs2143722921
|
|
|
NM_058216.3(RAD51C):c.282G>A (p.Glu94=)
|
rs2047950465
|
|
|
NM_058216.3(RAD51C):c.288C>A (p.Thr96=)
|
rs143180709
|
|
|
NM_058216.3(RAD51C):c.294C>A (p.Gly98=)
|
|
|
|
NM_058216.3(RAD51C):c.303C>A (p.Ile101=)
|
|
|
|
NM_058216.3(RAD51C):c.303C>T (p.Ile101=)
|
rs751840489
|
|
|
NM_058216.3(RAD51C):c.306C>T (p.Thr102=)
|
rs1567786291
|
|
|
NM_058216.3(RAD51C):c.318A>C (p.Ala106=)
|
rs781371468
|
|
|
NM_058216.3(RAD51C):c.319C>T (p.Leu107=)
|
rs752817595
|
|
|
NM_058216.3(RAD51C):c.333T>C (p.Leu111=)
|
rs1598456183
|
|
|
NM_058216.3(RAD51C):c.336G>C (p.Gly112=)
|
rs746122031
|
|
|
NM_058216.3(RAD51C):c.339T>C (p.Gly113=)
|
rs2143725217
|
|
|
NM_058216.3(RAD51C):c.33G>A (p.Gln11=)
|
rs748248444
|
|
|
NM_058216.3(RAD51C):c.342A>G (p.Gly114=)
|
rs1555593777
|
|
|
NM_058216.3(RAD51C):c.345G>A (p.Val115=)
|
rs1598456274
|
|
|
NM_058216.3(RAD51C):c.348C>G (p.Pro116=)
|
rs2047955792
|
|
|
NM_058216.3(RAD51C):c.348C>T (p.Pro116=)
|
rs2047955792
|
|
|
NM_058216.3(RAD51C):c.34C>A (p.Arg12=)
|
|
|
|
NM_058216.3(RAD51C):c.357A>G (p.Lys119=)
|
rs863224434
|
|
|
NM_058216.3(RAD51C):c.369T>A (p.Ile123=)
|
rs2143726485
|
|
|
NM_058216.3(RAD51C):c.369T>C (p.Ile123=)
|
rs2143726485
|
|
|
NM_058216.3(RAD51C):c.36G>A (p.Arg12=)
|
rs876658798
|
|
|
NM_058216.3(RAD51C):c.36G>C (p.Arg12=)
|
rs876658798
|
|
|
NM_058216.3(RAD51C):c.375T>C (p.Gly125=)
|
|
|
|
NM_058216.3(RAD51C):c.378A>C (p.Ala126=)
|
rs876658639
|
|
|
NM_058216.3(RAD51C):c.381A>G (p.Pro127=)
|
rs2143727201
|
|
|
NM_058216.3(RAD51C):c.390A>C (p.Gly130=)
|
|
|
|
NM_058216.3(RAD51C):c.393A>G (p.Lys131=)
|
rs1598456492
|
|
|
NM_058216.3(RAD51C):c.396A>C (p.Thr132=)
|
rs766221834
|
|
|
NM_058216.3(RAD51C):c.396A>T (p.Thr132=)
|
rs766221834
|
|
|
NM_058216.3(RAD51C):c.399A>G (p.Gln133=)
|
|
|
|
NM_058216.3(RAD51C):c.400T>C (p.Leu134=)
|
rs863224435
|
|
|
NM_058216.3(RAD51C):c.402A>G (p.Leu134=)
|
rs1064794121
|
|
|
NM_058216.3(RAD51C):c.404+12T>G
|
|
|
|
NM_058216.3(RAD51C):c.404+13G>A
|
rs547506164
|
|
|
NM_058216.3(RAD51C):c.404+15del
|
|
|
|
NM_058216.3(RAD51C):c.404+16C>T
|
rs376465837
|
|
|
NM_058216.3(RAD51C):c.404+18C>T
|
|
|
|
NM_058216.3(RAD51C):c.404+18_404+20del
|
|
|
|
NM_058216.3(RAD51C):c.404+5A>T
|
|
|
|
NM_058216.3(RAD51C):c.404+7_404+10del
|
rs2143728389
|
|
|
NM_058216.3(RAD51C):c.405-10C>G
|
rs748811733
|
|
|
NM_058216.3(RAD51C):c.405-15T>C
|
|
|
|
NM_058216.3(RAD51C):c.405-16A>G
|
rs2048019846
|
|
|
NM_058216.3(RAD51C):c.405-18T>C
|
rs2143742452
|
|
|
NM_058216.3(RAD51C):c.405-18T>G
|
|
|
|
NM_058216.3(RAD51C):c.405-19G>A
|
rs2143742410
|
|
|
NM_058216.3(RAD51C):c.405-20T>G
|
|
|
|
NM_058216.3(RAD51C):c.405-5G>A
|
rs1598459949
|
|
|
NM_058216.3(RAD51C):c.405-8G>A
|
rs1431351072
|
|
|
NM_058216.3(RAD51C):c.405T>C (p.Cys135=)
|
rs537272666
|
|
|
NM_058216.3(RAD51C):c.417A>C (p.Ala139=)
|
|
|
|
NM_058216.3(RAD51C):c.417A>G (p.Ala139=)
|
rs863224436
|
|
|
NM_058216.3(RAD51C):c.420A>G (p.Val140=)
|
rs1060504672
|
|
|
NM_058216.3(RAD51C):c.423T>C (p.Asp141=)
|
rs2048022400
|
|
|
NM_058216.3(RAD51C):c.429G>A (p.Gln143=)
|
rs2143744196
|
|
|
NM_058216.3(RAD51C):c.42G>A (p.Leu14=)
|
rs1598448777
|
|
|
NM_058216.3(RAD51C):c.438A>G (p.Glu146=)
|
rs876660817
|
|
|
NM_058216.3(RAD51C):c.456A>G (p.Ala152=)
|
|
|
|
NM_058216.3(RAD51C):c.45G>A (p.Val15=)
|
rs1598448793
|
|
|
NM_058216.3(RAD51C):c.471T>C (p.Phe157=)
|
rs1422598357
|
|
|
NM_058216.3(RAD51C):c.477T>C (p.Asp159=)
|
rs760436864
|
|
|
NM_058216.3(RAD51C):c.480A>C (p.Thr160=)
|
rs1060504670
|
|
|
NM_058216.3(RAD51C):c.480A>G (p.Thr160=)
|
rs1060504670
|
|
|
NM_058216.3(RAD51C):c.483G>A (p.Glu161=)
|
rs1188093917
|
|
|
NM_058216.3(RAD51C):c.489T>C (p.Ser163=)
|
rs876659719
|
|
|
NM_058216.3(RAD51C):c.499G>T (p.Asp167Tyr)
|
|
|
|
NM_058216.3(RAD51C):c.501T>C (p.Asp167=)
|
|
|
|
NM_058216.3(RAD51C):c.504A>G (p.Arg168=)
|
rs1555594805
|
|
|
NM_058216.3(RAD51C):c.519T>C (p.Ala173=)
|
rs1177998422
|
|
|
NM_058216.3(RAD51C):c.51C>T (p.Phe17=)
|
rs1598448876
|
|
|
NM_058216.3(RAD51C):c.546T>C (p.Leu182=)
|
|
|
|
NM_058216.3(RAD51C):c.54G>A (p.Pro18=)
|
|
|
|
NM_058216.3(RAD51C):c.54G>T (p.Pro18=)
|
rs1555591865
|
|
|
NM_058216.3(RAD51C):c.552A>G (p.Ala184=)
|
rs761168518
|
|
|
NM_058216.3(RAD51C):c.558A>G (p.Lys186=)
|
|
|
|
NM_058216.3(RAD51C):c.55C>T (p.Leu19=)
|
rs1064796141
|
|
|
NM_058216.3(RAD51C):c.561C>T (p.His187=)
|
rs2048033583
|
|
|
NM_058216.3(RAD51C):c.564G>A (p.Lys188=)
|
rs876658264
|
|
|
NM_058216.3(RAD51C):c.567A>G (p.Gly189=)
|
rs1567788981
|
|
|
NM_058216.3(RAD51C):c.570G>A (p.Glu190=)
|
rs1555594937
|
|
|
NM_058216.3(RAD51C):c.571+11A>G
|
|
|
|
NM_058216.3(RAD51C):c.571+12A>G
|
|
|
|
NM_058216.3(RAD51C):c.571+13A>G
|
|
|
|
NM_058216.3(RAD51C):c.571+15_571+16insCA
|
rs370506962
|
|
|
NM_058216.3(RAD51C):c.571+16A>T
|
|
|
|
NM_058216.3(RAD51C):c.571+17T>C
|
rs2143750571
|
|
|
NM_058216.3(RAD51C):c.571+18C>G
|
|
|
|
NM_058216.3(RAD51C):c.571+18C>T
|
rs774137305
|
|
|
NM_058216.3(RAD51C):c.571+21_571+23del
|
rs1168224153
|
|
|
NM_058216.3(RAD51C):c.571+7T>C
|
rs1024076621
|
|
|
NM_058216.3(RAD51C):c.571+9G>C
|
rs776730538
|
|
|
NM_058216.3(RAD51C):c.572-13T>G
|
rs2143796132
|
|
|
NM_058216.3(RAD51C):c.572-14T>G
|
|
|
|
NM_058216.3(RAD51C):c.572-16T>C
|
rs1555597053
|
|
|
NM_058216.3(RAD51C):c.572-17G>A
|
rs193023469
|
|
|
NM_058216.3(RAD51C):c.572-21_572-16del
|
rs773035374
|
|
|
NM_058216.3(RAD51C):c.572-7G>A
|
rs1567794083
|
|
|
NM_058216.3(RAD51C):c.572-8T>C
|
rs2143796223
|
|
|
NM_058216.3(RAD51C):c.573A>G (p.Glu191=)
|
rs2143796412
|
|
|
NM_058216.3(RAD51C):c.577C>A (p.Arg193=)
|
rs200293302
|
|
|
NM_058216.3(RAD51C):c.57G>C (p.Leu19=)
|
|
|
|
NM_058216.3(RAD51C):c.585T>C (p.Ala195=)
|
rs2143796798
|
|
|
NM_058216.3(RAD51C):c.588G>A (p.Leu196=)
|
rs1555597088
|
|
|
NM_058216.3(RAD51C):c.591G>A (p.Glu197=)
|
|
|
|
NM_058216.3(RAD51C):c.615T>C (p.Leu205=)
|
rs2143797988
|
|
|
NM_058216.3(RAD51C):c.636C>T (p.Arg212=)
|
rs1481957875
|
|
|
NM_058216.3(RAD51C):c.639T>C (p.Cys213=)
|
|
|
|
NM_058216.3(RAD51C):c.645C>T (p.Asp215=)
|
|
|
|
NM_058216.3(RAD51C):c.648C>T (p.Tyr216=)
|
|
|
|
NM_058216.3(RAD51C):c.651A>C (p.Thr217=)
|
|
|
|
NM_058216.3(RAD51C):c.651A>T (p.Thr217=)
|
rs757915374
|
|
|
NM_058216.3(RAD51C):c.657A>G (p.Leu219=)
|
rs2143800069
|
|
|
NM_058216.3(RAD51C):c.658C>T (p.Leu220=)
|
rs1555597205
|
|
|
NM_058216.3(RAD51C):c.663A>C (p.Ala221=)
|
|
|
|
NM_058216.3(RAD51C):c.666A>G (p.Gln222=)
|
rs1567794382
|
|
|
NM_058216.3(RAD51C):c.669T>C (p.Val223=)
|
rs2143800599
|
|
|
NM_058216.3(RAD51C):c.66G>C (p.Ala22=)
|
rs876660695
|
|
|
NM_058216.3(RAD51C):c.681A>C (p.Pro227=)
|
rs1177043110
|
|
|
NM_058216.3(RAD51C):c.681A>G (p.Pro227=)
|
rs1177043110
|
|
|
NM_058216.3(RAD51C):c.687C>T (p.Phe229=)
|
rs780177888
|
|
|
NM_058216.3(RAD51C):c.690T>C (p.Leu230=)
|
rs2143801640
|
|
|
NM_058216.3(RAD51C):c.693A>G (p.Ser231=)
|
rs1598473581
|
|
|
NM_058216.3(RAD51C):c.696A>G (p.Glu232=)
|
rs786201177
|
|
|
NM_058216.3(RAD51C):c.6C>G (p.Arg2=)
|
rs1334508786
|
|
|
NM_058216.3(RAD51C):c.702A>C (p.Ser234=)
|
|
|
|
NM_058216.3(RAD51C):c.702A>G (p.Ser234=)
|
|
|
|
NM_058216.3(RAD51C):c.705+13C>A
|
|
|
|
NM_058216.3(RAD51C):c.705+13C>T
|
|
|
|
NM_058216.3(RAD51C):c.705+15A>G
|
|
|
|
NM_058216.3(RAD51C):c.705+16C>G
|
|
|
|
NM_058216.3(RAD51C):c.705+9C>G
|
rs1598473685
|
|
|
NM_058216.3(RAD51C):c.705+9C>T
|
rs1598473685
|
|
|
NM_058216.3(RAD51C):c.706-10C>T
|
|
|
|
NM_058216.3(RAD51C):c.706-11T>G
|
rs2143849743
|
|
|
NM_058216.3(RAD51C):c.706-12T>A
|
rs2143849715
|
|
|
NM_058216.3(RAD51C):c.706-17A>C
|
|
|
|
NM_058216.3(RAD51C):c.706-18_706-16del
|
rs1173077552
|
|
|
NM_058216.3(RAD51C):c.706-20A>G
|
|
|
|
NM_058216.3(RAD51C):c.706-4T>A
|
rs2143849867
|
|
|
NM_058216.3(RAD51C):c.706-5T>C
|
rs2143849856
|
|
|
NM_058216.3(RAD51C):c.706-7T>C
|
rs1555599087
|
|
|
NM_058216.3(RAD51C):c.706-7T>G
|
|
|
|
NM_058216.3(RAD51C):c.706-9T>C
|
rs1060504671
|
|
|
NM_058216.3(RAD51C):c.711A>T (p.Arg237=)
|
|
|
|
NM_058216.3(RAD51C):c.717G>C (p.Val239=)
|
rs1555599108
|
|
|
NM_058216.3(RAD51C):c.723G>A (p.Val241=)
|
rs2143850541
|
|
|
NM_058216.3(RAD51C):c.741A>G (p.Pro247=)
|
rs1010366805
|
|
|
NM_058216.3(RAD51C):c.750T>C (p.His250=)
|
|
|
|
NM_058216.3(RAD51C):c.753C>T (p.Asp251=)
|
rs1415231244
|
|
|
NM_058216.3(RAD51C):c.756A>G (p.Leu252=)
|
rs863224437
|
|
|
NM_058216.3(RAD51C):c.763C>T (p.Leu255=)
|
rs1598484488
|
|
|
NM_058216.3(RAD51C):c.774T>C (p.Arg258=)
|
rs1555599197
|
|
|
NM_058216.3(RAD51C):c.778C>A (p.Arg260=)
|
|
|
|
NM_058216.3(RAD51C):c.780G>T (p.Arg260=)
|
rs1460932618
|
|
|
NM_058216.3(RAD51C):c.784T>C (p.Leu262=)
|
rs149331537
|
|
|
NM_058216.3(RAD51C):c.801G>A (p.Gln267=)
|
rs2048499866
|
|
|
NM_058216.3(RAD51C):c.816T>G (p.Leu272=)
|
rs1598484799
|
|
|
NM_058216.3(RAD51C):c.819A>C (p.Ala273=)
|
|
|
|
NM_058216.3(RAD51C):c.81G>T (p.Leu27=)
|
rs1311969744
|
|
|
NM_058216.3(RAD51C):c.837+11A>G
|
rs2143855309
|
|
|
NM_058216.3(RAD51C):c.837+12C>G
|
|
|
|
NM_058216.3(RAD51C):c.837+12C>T
|
|
|
|
NM_058216.3(RAD51C):c.837+15G>A
|
|
|
|
NM_058216.3(RAD51C):c.837+16dup
|
|
|
|
NM_058216.3(RAD51C):c.837+17G>A
|
|
|
|
NM_058216.3(RAD51C):c.837+19A>G
|
rs1433569356
|
|
|
NM_058216.3(RAD51C):c.837+7A>G
|
rs1555599293
|
|
|
NM_058216.3(RAD51C):c.838-14T>C
|
|
|
|
NM_058216.3(RAD51C):c.838-18T>A
|
rs1567808119
|
|
|
NM_058216.3(RAD51C):c.838-19T>C
|
rs542415157
|
|
|
NM_058216.3(RAD51C):c.838-20C>G
|
rs766600284
|
|
|
NM_058216.3(RAD51C):c.838-4del
|
|
|
|
NM_058216.3(RAD51C):c.838-6T>C
|
rs2143929546
|
|
|
NM_058216.3(RAD51C):c.838-9T>G
|
rs1598503945
|
|
|
NM_058216.3(RAD51C):c.864A>G (p.Thr288=)
|
rs1555602110
|
|
|
NM_058216.3(RAD51C):c.873T>C (p.Asp291=)
|
rs1288802398
|
|
|
NM_058216.3(RAD51C):c.879T>C (p.Asn293=)
|
rs1555602132
|
|
|
NM_058216.3(RAD51C):c.87T>C (p.Ser29=)
|
rs786203249
|
|
|
NM_058216.3(RAD51C):c.888G>A (p.Leu296=)
|
rs370829773
|
|
|
NM_058216.3(RAD51C):c.894T>G (p.Val298=)
|
rs1555602147
|
|
|
NM_058216.3(RAD51C):c.900A>G (p.Ala300=)
|
rs776711046
|
|
|
NM_058216.3(RAD51C):c.904+11A>T
|
|
|
|
NM_058216.3(RAD51C):c.904+13T>A
|
rs2143932777
|
|
|
NM_058216.3(RAD51C):c.904+14C>T
|
|
|
|
NM_058216.3(RAD51C):c.904+17A>C
|
rs760664998
|
|
|
NM_058216.3(RAD51C):c.904+21del
|
|
|
|
NM_058216.3(RAD51C):c.904+7A>C
|
rs1555602171
|
|
|
NM_058216.3(RAD51C):c.905-13T>G
|
rs2049019457
|
|
|
NM_058216.3(RAD51C):c.905-14T>C
|
|
|
|
NM_058216.3(RAD51C):c.905-15G>C
|
rs2143960875
|
|
|
NM_058216.3(RAD51C):c.905-16T>C
|
|
|
|
NM_058216.3(RAD51C):c.905-18T>G
|
|
|
|
NM_058216.3(RAD51C):c.905-18_905-16del
|
rs757889102
|
|
|
NM_058216.3(RAD51C):c.905-20A>G
|
rs950351911
|
|
|
NM_058216.3(RAD51C):c.905-4T>C
|
rs2049020043
|
|
|
NM_058216.3(RAD51C):c.905-4T>G
|
rs2049020043
|
|
|
NM_058216.3(RAD51C):c.905-5C>A
|
|
|
|
NM_058216.3(RAD51C):c.905-6T>C
|
|
|
|
NM_058216.3(RAD51C):c.906G>A (p.Gly302=)
|
rs1598510954
|
|
|
NM_058216.3(RAD51C):c.90G>C (p.Ala30=)
|
|
|
|
NM_058216.3(RAD51C):c.912T>C (p.Ser304=)
|
rs876659009
|
|
|
NM_058216.3(RAD51C):c.918A>G (p.Gly306=)
|
rs2143961685
|
|
|
NM_058216.3(RAD51C):c.927T>A (p.Ala309=)
|
|
|
|
NM_058216.3(RAD51C):c.927T>C (p.Ala309=)
|
rs2143961955
|
|
|
NM_058216.3(RAD51C):c.930A>G (p.Thr310=)
|
rs2049022328
|
|
|
NM_058216.3(RAD51C):c.933A>C (p.Ile311=)
|
rs965621328
|
|
|
NM_058216.3(RAD51C):c.933A>T (p.Ile311=)
|
rs965621328
|
|
|
NM_058216.3(RAD51C):c.936G>A (p.Arg312=)
|
rs1555603022
|
|
|
NM_058216.3(RAD51C):c.939A>C (p.Leu313=)
|
|
|
|
NM_058216.3(RAD51C):c.939A>G (p.Leu313=)
|
rs786201953
|
|
|
NM_058216.3(RAD51C):c.93G>A (p.Gly31=)
|
rs769255656
|
|
|
NM_058216.3(RAD51C):c.93G>T (p.Gly31=)
|
|
|
|
NM_058216.3(RAD51C):c.954C>T (p.Asp318=)
|
rs876658677
|
|
|
NM_058216.3(RAD51C):c.960G>A (p.Lys320=)
|
rs864622395
|
|
|
NM_058216.3(RAD51C):c.965+10G>A
|
rs759703406
|
|
|
NM_058216.3(RAD51C):c.965+18T>A
|
|
|
|
NM_058216.3(RAD51C):c.965+20_965+21delinsGT
|
rs2049026490
|
|
|
NM_058216.3(RAD51C):c.965+28C>T
|
|
|
|
NM_058216.3(RAD51C):c.965+7A>G
|
rs1170701075
|
|
|
NM_058216.3(RAD51C):c.965+8C>G
|
rs1598511379
|
|
|
NM_058216.3(RAD51C):c.965+8C>T
|
|
|
|
NM_058216.3(RAD51C):c.966-16C>A
|
rs780961985
|
|
|
NM_058216.3(RAD51C):c.966-16_966-14del
|
rs2144043621
|
|
|
NM_058216.3(RAD51C):c.966-17T>A
|
rs2049467437
|
|
|
NM_058216.3(RAD51C):c.966-4G>A
|
rs878855183
|
|
|
NM_058216.3(RAD51C):c.966-4G>C
|
rs878855183
|
|
|
NM_058216.3(RAD51C):c.966-9T>C
|
|
|
|
NM_058216.3(RAD51C):c.969G>A (p.Leu323=)
|
rs1598534877
|
|
|
NM_058216.3(RAD51C):c.972A>G (p.Ala324=)
|
|
|
|
NM_058216.3(RAD51C):c.975A>C (p.Thr325=)
|
|
|
|
NM_058216.3(RAD51C):c.975A>G (p.Thr325=)
|
|
|
|
NM_058216.3(RAD51C):c.976T>C (p.Leu326=)
|
rs2144044633
|
|
|
NM_058216.3(RAD51C):c.984G>A (p.Lys328=)
|
rs2144045008
|
|
|
NM_058216.3(RAD51C):c.987A>T (p.Ser329=)
|
rs876659303
|
|
|
NM_058216.3(RAD51C):c.999G>A (p.Lys333=)
|
rs2049471981
|
|
|
NM_058216.3(RAD51C):c.9G>A (p.Gly3=)
|
rs751117852
|
|
|
NM_058216.3(RAD51C):c.9G>T (p.Gly3=)
|
rs751117852
|
|
|
NM_130468.4(CHST14):c.1038C>T (p.Ala346=)
|
|
|
|
NM_130468.4(CHST14):c.1062G>A (p.Lys354=)
|
|
|
|
NM_130468.4(CHST14):c.1086T>C (p.Phe362=)
|
rs2141571343
|
|
|
NM_130468.4(CHST14):c.1101T>C (p.Pro367=)
|
rs1189242847
|
|
|
NM_130468.4(CHST14):c.1104T>C (p.Asn368=)
|
rs1351942431
|
|
|
NM_130468.4(CHST14):c.111G>T (p.Pro37=)
|
|
|
|
NM_130468.4(CHST14):c.114C>G (p.Pro38=)
|
rs2141570382
|
|
|
NM_130468.4(CHST14):c.117G>A (p.Leu39=)
|
rs2141570389
|
|
|
NM_130468.4(CHST14):c.135G>C (p.Leu45=)
|
|
|
|
NM_130468.4(CHST14):c.18G>T (p.Leu6=)
|
|
|
|
NM_130468.4(CHST14):c.216C>T (p.Pro72=)
|
|
|
|
NM_130468.4(CHST14):c.228C>A (p.Pro76=)
|
|
|
|
NM_130468.4(CHST14):c.234C>G (p.Arg78=)
|
|
|
|
NM_130468.4(CHST14):c.255G>A (p.Gly85=)
|
rs2141570543
|
|
|
NM_130468.4(CHST14):c.303C>T (p.Asp101=)
|
rs2141570597
|
|
|
NM_130468.4(CHST14):c.312G>T (p.Val104=)
|
|
|
|
NM_130468.4(CHST14):c.315G>T (p.Arg105=)
|
|
|
|
NM_130468.4(CHST14):c.336C>G (p.Thr112=)
|
|
|
|
NM_130468.4(CHST14):c.409C>T (p.Leu137=)
|
rs2141570724
|
|
|
NM_130468.4(CHST14):c.462C>T (p.Val154=)
|
rs1478974228
|
|
|
NM_130468.4(CHST14):c.48G>A (p.Glu16=)
|
|
|
|
NM_130468.4(CHST14):c.513C>T (p.Gly171=)
|
|
|
|
NM_130468.4(CHST14):c.516C>T (p.Val172=)
|
|
|
|
NM_130468.4(CHST14):c.609G>T (p.Leu203=)
|
rs2141570922
|
|
|
NM_130468.4(CHST14):c.651A>G (p.Glu217=)
|
|
|
|
NM_130468.4(CHST14):c.681T>C (p.Phe227=)
|
|
|
|
NM_130468.4(CHST14):c.714G>C (p.Gly238=)
|
|
|
|
NM_130468.4(CHST14):c.747G>T (p.Ala249=)
|
|
|
|
NM_130468.4(CHST14):c.750G>T (p.Gly250=)
|
rs1402353708
|
|
|
NM_130468.4(CHST14):c.834T>C (p.His278=)
|
|
|
|
NM_130468.4(CHST14):c.846G>A (p.Val282=)
|
|
|
|
NM_130468.4(CHST14):c.846G>C (p.Val282=)
|
rs139191820
|
|
|
NM_130468.4(CHST14):c.849C>T (p.Tyr283=)
|
rs1438289059
|
|
|
NM_130468.4(CHST14):c.90C>A (p.Ala30=)
|
|
|
|
NM_130468.4(CHST14):c.948A>G (p.Pro316=)
|
|
|
|
NM_130468.4(CHST14):c.984C>T (p.Tyr328=)
|
rs747403269
|
|
|
NM_130468.4(CHST14):c.999C>T (p.Pro333=)
|
|
|
|
NM_133433.4(NIPBL):c.1026G>A (p.Ala342=)
|
|
|
|
NM_133433.4(NIPBL):c.1254A>G (p.Gln418=)
|
|
|
|
NM_133433.4(NIPBL):c.1278A>G (p.Thr426=)
|
|
|
|
NM_133433.4(NIPBL):c.1278A>T (p.Thr426=)
|
rs781405794
|
|
|
NM_133433.4(NIPBL):c.1302G>C (p.Val434=)
|
rs769279620
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NM_133433.4(NIPBL):c.1302G>T (p.Val434=)
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NM_133433.4(NIPBL):c.132A>G (p.Ala44=)
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NM_133433.4(NIPBL):c.1425T>C (p.Ala475=)
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NM_133433.4(NIPBL):c.1495+11C>G
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NM_133433.4(NIPBL):c.1584G>A (p.Thr528=)
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NM_133433.4(NIPBL):c.1686C>T (p.Asp562=)
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NM_133433.4(NIPBL):c.1797A>G (p.Thr599=)
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NM_133433.4(NIPBL):c.1807A>C (p.Lys603Gln)
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NM_133433.4(NIPBL):c.1893G>A (p.Val631=)
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NM_133433.4(NIPBL):c.1920A>G (p.Leu640=)
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NM_133433.4(NIPBL):c.2025A>G (p.Glu675=)
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NM_133433.4(NIPBL):c.2058C>T (p.Asn686=)
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NM_133433.4(NIPBL):c.2187T>A (p.Gly729=)
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NM_133433.4(NIPBL):c.2205T>C (p.Thr735=)
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NM_133433.4(NIPBL):c.2228G>A (p.Arg743His)
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NM_133433.4(NIPBL):c.230+18T>C
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NM_133433.4(NIPBL):c.230+19A>G
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NM_133433.4(NIPBL):c.2310G>A (p.Lys770=)
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NM_133433.4(NIPBL):c.2331T>C (p.Pro777=)
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NM_133433.4(NIPBL):c.2472A>C (p.Ser824=)
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NM_133433.4(NIPBL):c.2514T>G (p.Ser838=)
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NM_133433.4(NIPBL):c.2643A>G (p.Pro881=)
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NM_133433.4(NIPBL):c.2682T>C (p.Arg894=)
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NM_133433.4(NIPBL):c.2709A>T (p.Ser903=)
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NM_133433.4(NIPBL):c.2751T>C (p.Asp917=)
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NM_133433.4(NIPBL):c.2754C>T (p.Asp918=)
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NM_133433.4(NIPBL):c.2871C>T (p.Val957=)
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NM_133433.4(NIPBL):c.2901C>A (p.Gly967=)
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NM_133433.4(NIPBL):c.297C>T (p.Val99=)
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NM_133433.4(NIPBL):c.3093C>G (p.Ile1031Met)
|
rs1561119475
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NM_133433.4(NIPBL):c.3121+19A>C
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NM_133433.4(NIPBL):c.3121+7A>C
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NM_133433.4(NIPBL):c.3122-17T>G
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NM_133433.4(NIPBL):c.3255T>C (p.Tyr1085=)
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NM_133433.4(NIPBL):c.3305-17T>C
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NM_133433.4(NIPBL):c.3318A>G (p.Arg1106=)
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NM_133433.4(NIPBL):c.3405T>C (p.His1135=)
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NM_133433.4(NIPBL):c.3429T>C (p.Gly1143=)
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NM_133433.4(NIPBL):c.3452C>T (p.Pro1151Leu)
|
rs1746665222
|
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NM_133433.4(NIPBL):c.3453G>A (p.Pro1151=)
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NM_133433.4(NIPBL):c.348T>C (p.Tyr116=)
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NM_133433.4(NIPBL):c.3502+20G>A
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NM_133433.4(NIPBL):c.3503-12T>C
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NM_133433.4(NIPBL):c.3537G>A (p.Lys1179=)
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NM_133433.4(NIPBL):c.3575-19A>G
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NM_133433.4(NIPBL):c.3575-9C>T
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NM_133433.4(NIPBL):c.3664+11C>T
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NM_133433.4(NIPBL):c.3664+19A>G
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NM_133433.4(NIPBL):c.3664+8C>T
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NM_133433.4(NIPBL):c.3768+15T>C
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NM_133433.4(NIPBL):c.3769-8T>A
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NM_133433.4(NIPBL):c.3786T>C (p.Thr1262=)
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NM_133433.4(NIPBL):c.3834G>A (p.Lys1278=)
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NM_133433.4(NIPBL):c.3856-10T>G
|
rs2149676690
|
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NM_133433.4(NIPBL):c.3856-18A>G
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NM_133433.4(NIPBL):c.3856-23_3856-13del
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NM_133433.4(NIPBL):c.3873A>G (p.Glu1291=)
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NM_133433.4(NIPBL):c.3947A>G (p.Asn1316Ser)
|
rs1580451626
|
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NM_133433.4(NIPBL):c.3957A>G (p.Thr1319=)
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NM_133433.4(NIPBL):c.4087+15_4087+20del
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NM_133433.4(NIPBL):c.4087+18C>G
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NM_133433.4(NIPBL):c.4087+9del
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NM_133433.4(NIPBL):c.4088-6T>C
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NM_133433.4(NIPBL):c.4088-8del
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NM_133433.4(NIPBL):c.4088-9T>C
|
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NM_133433.4(NIPBL):c.4146A>G (p.Val1382=)
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NM_133433.4(NIPBL):c.4239+7T>C
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NM_133433.4(NIPBL):c.4240-7T>C
|
rs587783943
|
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NM_133433.4(NIPBL):c.4321-6A>G
|
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NM_133433.4(NIPBL):c.4335T>C (p.Tyr1445=)
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NM_133433.4(NIPBL):c.4421+15_4421+16del
|
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NM_133433.4(NIPBL):c.4421+18_4421+19del
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NM_133433.4(NIPBL):c.4421+20G>T
|
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NM_133433.4(NIPBL):c.4449A>G (p.Glu1483=)
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NM_133433.4(NIPBL):c.444A>G (p.Ser148=)
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NM_133433.4(NIPBL):c.4524G>A (p.Glu1508=)
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NM_133433.4(NIPBL):c.453C>T (p.Pro151=)
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NM_133433.4(NIPBL):c.4560+19G>A
|
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NM_133433.4(NIPBL):c.4560+19G>T
|
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NM_133433.4(NIPBL):c.458+17del
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NM_133433.4(NIPBL):c.458+19G>A
|
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NM_133433.4(NIPBL):c.458+9T>C
|
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NM_133433.4(NIPBL):c.4587C>T (p.Asn1529=)
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NM_133433.4(NIPBL):c.45G>C (p.Gly15=)
|
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NM_133433.4(NIPBL):c.4617A>G (p.Gln1539=)
|
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NM_133433.4(NIPBL):c.462G>A (p.Arg154=)
|
rs769203117
|
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NM_133433.4(NIPBL):c.4643+10A>G
|
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NM_133433.4(NIPBL):c.4644-16A>G
|
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NM_133433.4(NIPBL):c.4650T>A (p.Gly1550=)
|
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NM_133433.4(NIPBL):c.4776+11_4776+12insTTAT
|
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NM_133433.4(NIPBL):c.4777-16C>A
|
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NM_133433.4(NIPBL):c.4777-6A>G
|
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NM_133433.4(NIPBL):c.4830T>G (p.Leu1610=)
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NM_133433.4(NIPBL):c.4921-4A>G
|
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NM_133433.4(NIPBL):c.4962A>G (p.Ala1654=)
|
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NM_133433.4(NIPBL):c.5010+18T>C
|
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NM_133433.4(NIPBL):c.5011-16T>G
|
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NM_133433.4(NIPBL):c.5011-19C>G
|
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NM_133433.4(NIPBL):c.5011-8C>T
|
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NM_133433.4(NIPBL):c.5037G>A (p.Gln1679=)
|
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NM_133433.4(NIPBL):c.5052A>G (p.Thr1684=)
|
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NM_133433.4(NIPBL):c.5118T>C (p.His1706=)
|
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NM_133433.4(NIPBL):c.5226-11T>C
|
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NM_133433.4(NIPBL):c.5295G>C (p.Pro1765=)
|
rs758853244
|
|
|
NM_133433.4(NIPBL):c.5307C>T (p.Ser1769=)
|
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NM_133433.4(NIPBL):c.5328+20C>T
|
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NM_133433.4(NIPBL):c.5421A>G (p.Leu1807=)
|
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NM_133433.4(NIPBL):c.5427+16G>A
|
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NM_133433.4(NIPBL):c.5427+20C>T
|
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NM_133433.4(NIPBL):c.5427+24_5427+27del
|
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NM_133433.4(NIPBL):c.5428-20T>G
|
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NM_133433.4(NIPBL):c.5458T>C (p.Leu1820=)
|
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NM_133433.4(NIPBL):c.546C>T (p.Ser182=)
|
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|
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NM_133433.4(NIPBL):c.5574+11C>A
|
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NM_133433.4(NIPBL):c.5574+7T>G
|
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NM_133433.4(NIPBL):c.5710-13C>G
|
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NM_133433.4(NIPBL):c.5802C>T (p.Thr1934=)
|
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NM_133433.4(NIPBL):c.5809-18T>A
|
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NM_133433.4(NIPBL):c.5811T>G (p.Val1937=)
|
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|
NM_133433.4(NIPBL):c.5863-19_5863-2del
|
rs753611931
|
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NM_133433.4(NIPBL):c.5972-14G>C
|
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NM_133433.4(NIPBL):c.5972-16_5972-15del
|
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NM_133433.4(NIPBL):c.5997T>C (p.Ser1999=)
|
rs2149721385
|
|
|
NM_133433.4(NIPBL):c.6024T>G (p.Thr2008=)
|
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NM_133433.4(NIPBL):c.6051C>G (p.Pro2017=)
|
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|
|
NM_133433.4(NIPBL):c.6072A>G (p.Ala2024=)
|
rs745516748
|
|
|
NM_133433.4(NIPBL):c.6108+13C>T
|
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|
|
NM_133433.4(NIPBL):c.6108+7A>G
|
rs587783995
|
|
|
NM_133433.4(NIPBL):c.611-14_611-12del
|
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NM_133433.4(NIPBL):c.611-8A>G
|
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NM_133433.4(NIPBL):c.6111G>A (p.Thr2037=)
|
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|
|
NM_133433.4(NIPBL):c.6171G>A (p.Leu2057=)
|
rs1579556694
|
|
|
NM_133433.4(NIPBL):c.6177G>A (p.Glu2059=)
|
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|
NM_133433.4(NIPBL):c.6219A>G (p.Leu2073=)
|
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|
|
NM_133433.4(NIPBL):c.6249+14T>G
|
rs2149730972
|
|
|
NM_133433.4(NIPBL):c.6249+17C>T
|
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|
NM_133433.4(NIPBL):c.6249+18C>G
|
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NM_133433.4(NIPBL):c.6250-11A>G
|
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NM_133433.4(NIPBL):c.6250-13C>T
|
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NM_133433.4(NIPBL):c.6384A>C (p.Pro2128=)
|
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|
NM_133433.4(NIPBL):c.6384A>G (p.Pro2128=)
|
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NM_133433.4(NIPBL):c.6399T>C (p.Leu2133=)
|
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|
|
NM_133433.4(NIPBL):c.6402A>G (p.Leu2134=)
|
rs777430704
|
|
|
NM_133433.4(NIPBL):c.6450A>G (p.Leu2150=)
|
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|
|
NM_133433.4(NIPBL):c.6516A>G (p.Lys2172=)
|
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|
NM_133433.4(NIPBL):c.6589+13T>C
|
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|
NM_133433.4(NIPBL):c.6597C>G (p.Ala2199=)
|
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|
|
NM_133433.4(NIPBL):c.6717C>G (p.Thr2239=)
|
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|
NM_133433.4(NIPBL):c.6763+13A>G
|
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|
|
NM_133433.4(NIPBL):c.6763+18T>C
|
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NM_133433.4(NIPBL):c.6764-10G>A
|
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NM_133433.4(NIPBL):c.6764-6T>C
|
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|
|
NM_133433.4(NIPBL):c.677C>T (p.Pro226Leu)
|
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|
|
NM_133433.4(NIPBL):c.6792A>G (p.Leu2264=)
|
|
|
|
NM_133433.4(NIPBL):c.6819G>A (p.Gly2273=)
|
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|
|
NM_133433.4(NIPBL):c.6825T>C (p.Ser2275=)
|
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|
|
NM_133433.4(NIPBL):c.6888T>C (p.Ser2296=)
|
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|
|
NM_133433.4(NIPBL):c.6918A>G (p.Ala2306=)
|
|
|
|
NM_133433.4(NIPBL):c.6924T>C (p.Thr2308=)
|
|
|
|
NM_133433.4(NIPBL):c.6954+13T>G
|
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|
|
NM_133433.4(NIPBL):c.6954+18C>T
|
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|
|
NM_133433.4(NIPBL):c.6954+7A>G
|
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|
NM_133433.4(NIPBL):c.6955-20A>T
|
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|
NM_133433.4(NIPBL):c.6963A>G (p.Pro2321=)
|
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|
|
NM_133433.4(NIPBL):c.7062+7_7062+8del
|
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|
|
NM_133433.4(NIPBL):c.7063-11A>C
|
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|
|
NM_133433.4(NIPBL):c.708T>G (p.Ala236=)
|
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|
|
NM_133433.4(NIPBL):c.7119A>G (p.Thr2373=)
|
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|
|
NM_133433.4(NIPBL):c.7149A>G (p.Arg2383=)
|
|
|
|
NM_133433.4(NIPBL):c.7155C>T (p.Asp2385=)
|
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|
|
NM_133433.4(NIPBL):c.7164T>C (p.Ser2388=)
|
|
|
|
NM_133433.4(NIPBL):c.7218A>G (p.Arg2406=)
|
rs1579583689
|
|
|
NM_133433.4(NIPBL):c.7264-19T>C
|
|
|
|
NM_133433.4(NIPBL):c.7264-7T>C
|
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|
|
NM_133433.4(NIPBL):c.7446A>G (p.Ser2482=)
|
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|
|
NM_133433.4(NIPBL):c.7473C>T (p.Ser2491=)
|
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|
|
NM_133433.4(NIPBL):c.771+20T>G
|
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|
|
NM_133433.4(NIPBL):c.772-12C>T
|
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|
|
NM_133433.4(NIPBL):c.7737G>A (p.Ala2579=)
|
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|
|
NM_133433.4(NIPBL):c.7758T>G (p.Val2586=)
|
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|
|
NM_133433.4(NIPBL):c.7788C>T (p.Phe2596=)
|
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|
|
NM_133433.4(NIPBL):c.7861-9T>G
|
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|
|
NM_133433.4(NIPBL):c.7872C>T (p.Leu2624=)
|
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|
|
NM_133433.4(NIPBL):c.7914G>A (p.Glu2638=)
|
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|
|
NM_133433.4(NIPBL):c.7956A>C (p.Ser2652=)
|
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|
|
NM_133433.4(NIPBL):c.8007T>C (p.Asp2669=)
|
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|
|
NM_133433.4(NIPBL):c.8049+7C>T
|
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|
|
NM_133433.4(NIPBL):c.8050-8T>C
|
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|
|
NM_133433.4(NIPBL):c.807T>G (p.Ser269=)
|
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|
|
NM_133433.4(NIPBL):c.8118C>T (p.Asp2706=)
|
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|
|
NM_133433.4(NIPBL):c.8133C>T (p.Ile2711=)
|
|
|
|
NM_133433.4(NIPBL):c.8247T>C (p.Thr2749=)
|
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|
|
NM_133433.4(NIPBL):c.8283T>C (p.Pro2761=)
|
|
|
|
NM_133433.4(NIPBL):c.8316T>A (p.Ile2772=)
|
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|
|
NM_133433.4(NIPBL):c.834A>G (p.Val278=)
|
rs377714862
|
|
|
NM_133433.4(NIPBL):c.834A>T (p.Val278=)
|
|
|
|
NM_133433.4(NIPBL):c.8391C>T (p.Ala2797=)
|
rs997526101
|
|
|
NM_133433.4(NIPBL):c.843T>C (p.Pro281=)
|
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|
|
NM_133433.4(NIPBL):c.868+16A>G
|
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|
|
NM_133433.4(NIPBL):c.868+17A>G
|
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|
|
NM_133433.4(NIPBL):c.868+8T>A
|
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|
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NM_133433.4(NIPBL):c.869-15G>A
|
|
|
|
NM_133433.4(NIPBL):c.879A>G (p.Pro293=)
|
|
|
|
NM_133433.4(NIPBL):c.904C>T (p.Leu302=)
|
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|
|
NM_133433.4(NIPBL):c.99T>C (p.Pro33=)
|
|
|
|
NM_147127.5(EVC2):c.1005+11C>G
|
|
|
|
NM_147127.5(EVC2):c.1005+14G>A
|
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|
|
NM_147127.5(EVC2):c.1005+15A>C
|
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|
|
NM_147127.5(EVC2):c.1005+17G>A
|
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|
|
NM_147127.5(EVC2):c.1005+7C>G
|
rs1453329419
|
|
|
NM_147127.5(EVC2):c.1006-13A>C
|
|
|
|
NM_147127.5(EVC2):c.1006-15G>A
|
|
|
|
NM_147127.5(EVC2):c.1006-15G>T
|
rs371325268
|
|
|
NM_147127.5(EVC2):c.1006-16C>T
|
|
|
|
NM_147127.5(EVC2):c.1006-17C>A
|
|
|
|
NM_147127.5(EVC2):c.1006-17C>G
|
|
|
|
NM_147127.5(EVC2):c.1006-5T>C
|
|
|
|
NM_147127.5(EVC2):c.1006-5dup
|
|
|
|
NM_147127.5(EVC2):c.1006-6C>A
|
|
|
|
NM_147127.5(EVC2):c.1017T>C (p.Tyr339=)
|
|
|
|
NM_147127.5(EVC2):c.1020G>A (p.Glu340=)
|
|
|
|
NM_147127.5(EVC2):c.1041G>T (p.Pro347=)
|
|
|
|
NM_147127.5(EVC2):c.1047C>T (p.Thr349=)
|
rs2108896061
|
|
|
NM_147127.5(EVC2):c.1050A>G (p.Ser350=)
|
|
|
|
NM_147127.5(EVC2):c.1059C>A (p.Gly353=)
|
rs77793386
|
|
|
NM_147127.5(EVC2):c.1086C>T (p.Asp362=)
|
rs1719017773
|
|
|
NM_147127.5(EVC2):c.1102C>T (p.Leu368=)
|
|
|
|
NM_147127.5(EVC2):c.1110C>T (p.Ser370=)
|
rs748718225
|
|
|
NM_147127.5(EVC2):c.111C>T (p.Pro37=)
|
|
|
|
NM_147127.5(EVC2):c.1145+19A>G
|
rs1560206472
|
|
|
NM_147127.5(EVC2):c.1146-11G>A
|
|
|
|
NM_147127.5(EVC2):c.1146-11G>T
|
|
|
|
NM_147127.5(EVC2):c.1146-18G>T
|
|
|
|
NM_147127.5(EVC2):c.1146-19T>C
|
|
|
|
NM_147127.5(EVC2):c.1146-19T>G
|
|
|
|
NM_147127.5(EVC2):c.1146-5C>T
|
|
|
|
NM_147127.5(EVC2):c.1146-9G>C
|
rs774847750
|
|
|
NM_147127.5(EVC2):c.114C>T (p.Arg38=)
|
|
|
|
NM_147127.5(EVC2):c.1152G>A (p.Glu384=)
|
|
|
|
NM_147127.5(EVC2):c.1161C>G (p.Thr387=)
|
rs1717278166
|
|
|
NM_147127.5(EVC2):c.1170G>A (p.Arg390=)
|
|
|
|
NM_147127.5(EVC2):c.1173A>C (p.Ala391=)
|
rs1276908557
|
|
|
NM_147127.5(EVC2):c.1176T>C (p.Asp392=)
|
rs1577195366
|
|
|
NM_147127.5(EVC2):c.1197A>C (p.Arg399=)
|
|
|
|
NM_147127.5(EVC2):c.1206C>A (p.Ile402=)
|
|
|
|
NM_147127.5(EVC2):c.1206C>T (p.Ile402=)
|
|
|
|
NM_147127.5(EVC2):c.1209C>T (p.Ser403=)
|
|
|
|
NM_147127.5(EVC2):c.120C>T (p.Arg40=)
|
|
|
|
NM_147127.5(EVC2):c.1212G>A (p.Lys404=)
|
|
|
|
NM_147127.5(EVC2):c.1215T>C (p.Asp405=)
|
|
|
|
NM_147127.5(EVC2):c.1218C>A (p.Ile406=)
|
|
|
|
NM_147127.5(EVC2):c.1230G>A (p.Leu410=)
|
rs1302326375
|
|
|
NM_147127.5(EVC2):c.1230G>T (p.Leu410=)
|
rs1302326375
|
|
|
NM_147127.5(EVC2):c.123C>T (p.Pro41=)
|
rs1722355414
|
|
|
NM_147127.5(EVC2):c.1245C>T (p.Thr415=)
|
rs747208576
|
|
|
NM_147127.5(EVC2):c.1254C>T (p.Gly418=)
|
rs2108864185
|
|
|
NM_147127.5(EVC2):c.1257C>T (p.His419=)
|
rs1717268176
|
|
|
NM_147127.5(EVC2):c.1260C>G (p.Leu420=)
|
rs150859940
|
|
|
NM_147127.5(EVC2):c.1260C>T (p.Leu420=)
|
rs150859940
|
|
|
NM_147127.5(EVC2):c.1263A>T (p.Ser421=)
|
|
|
|
NM_147127.5(EVC2):c.1266C>T (p.Pro422=)
|
|
|
|
NM_147127.5(EVC2):c.1309C>T (p.Leu437=)
|
rs1434202396
|
|
|
NM_147127.5(EVC2):c.1311A>C (p.Leu437=)
|
rs77131452
|
|
|
NM_147127.5(EVC2):c.1315C>T (p.Leu439=)
|
|
|
|
NM_147127.5(EVC2):c.1317G>T (p.Leu439=)
|
|
|
|
NM_147127.5(EVC2):c.132G>A (p.Ala44=)
|
|
|
|
NM_147127.5(EVC2):c.1332A>G (p.Gln444=)
|
|
|
|
NM_147127.5(EVC2):c.1335G>A (p.Glu445=)
|
rs2108863935
|
|
|
NM_147127.5(EVC2):c.1359A>G (p.Ala453=)
|
|
|
|
NM_147127.5(EVC2):c.1359A>T (p.Ala453=)
|
rs1478613738
|
|
|
NM_147127.5(EVC2):c.1360T>C (p.Leu454=)
|
rs2108863865
|
|
|
NM_147127.5(EVC2):c.1371A>G (p.Glu457=)
|
|
|
|
NM_147127.5(EVC2):c.1383A>G (p.Glu461=)
|
|
|
|
NM_147127.5(EVC2):c.1386A>G (p.Thr462=)
|
|
|
|
NM_147127.5(EVC2):c.138A>G (p.Pro46=)
|
|
|
|
NM_147127.5(EVC2):c.1395G>A (p.Lys465=)
|
|
|
|
NM_147127.5(EVC2):c.1401A>G (p.Glu467=)
|
|
|
|
NM_147127.5(EVC2):c.1413G>A (p.Gln471=)
|
rs2108863731
|
|
|
NM_147127.5(EVC2):c.141C>T (p.Pro47=)
|
|
|
|
NM_147127.5(EVC2):c.142C>A (p.Arg48=)
|
|
|
|
NM_147127.5(EVC2):c.1443A>G (p.Glu481=)
|
|
|
|
NM_147127.5(EVC2):c.144G>A (p.Arg48=)
|
rs2151750018
|
|
|
NM_147127.5(EVC2):c.1450C>T (p.Leu484=)
|
|
|
|
NM_147127.5(EVC2):c.1470+10G>A
|
rs1198809289
|
|
|
NM_147127.5(EVC2):c.1470+11_1470+19del
|
|
|
|
NM_147127.5(EVC2):c.1470+12C>G
|
|
|
|
NM_147127.5(EVC2):c.1470+7C>T
|
|
|
|
NM_147127.5(EVC2):c.1470+8A>G
|
rs761155878
|
|
|
NM_147127.5(EVC2):c.1471-10C>T
|
rs1439878397
|
|
|
NM_147127.5(EVC2):c.1471-12T>G
|
|
|
|
NM_147127.5(EVC2):c.1471-13T>C
|
|
|
|
NM_147127.5(EVC2):c.1471-17C>T
|
|
|
|
NM_147127.5(EVC2):c.1471-20T>C
|
|
|
|
NM_147127.5(EVC2):c.1471-4C>G
|
rs947596816
|
|
|
NM_147127.5(EVC2):c.1471-5T>A
|
rs1043283150
|
|
|
NM_147127.5(EVC2):c.1471-5T>C
|
rs1043283150
|
|
|
NM_147127.5(EVC2):c.1471-8C>G
|
rs2108851855
|
|
|
NM_147127.5(EVC2):c.1497G>A (p.Leu499=)
|
|
|
|
NM_147127.5(EVC2):c.1498C>A (p.Arg500=)
|
rs148248777
|
|
|
NM_147127.5(EVC2):c.1503C>A (p.Thr501=)
|
rs369530549
|
|
|
NM_147127.5(EVC2):c.1503C>T (p.Thr501=)
|
|
|
|
NM_147127.5(EVC2):c.1506C>G (p.Leu502=)
|
|
|
|
NM_147127.5(EVC2):c.1509T>C (p.His503=)
|
rs771803987
|
|
|
NM_147127.5(EVC2):c.150C>G (p.Pro50=)
|
|
|
|
NM_147127.5(EVC2):c.150C>T (p.Pro50=)
|
rs1347650453
|
|
|
NM_147127.5(EVC2):c.1518A>G (p.Glu506=)
|
|
|
|
NM_147127.5(EVC2):c.1539T>C (p.Ser513=)
|
|
|
|
NM_147127.5(EVC2):c.1563C>T (p.Asp521=)
|
|
|
|
NM_147127.5(EVC2):c.1566T>C (p.Phe522=)
|
|
|
|
NM_147127.5(EVC2):c.1578C>T (p.His526=)
|
|
|
|
NM_147127.5(EVC2):c.159T>C (p.Ala53=)
|
rs2151749984
|
|
|
NM_147127.5(EVC2):c.1611G>A (p.Leu537=)
|
|
|
|
NM_147127.5(EVC2):c.1611G>T (p.Leu537=)
|
|
|
|
NM_147127.5(EVC2):c.1614C>T (p.His538=)
|
|
|
|
NM_147127.5(EVC2):c.1617T>C (p.Ser539=)
|
|
|
|
NM_147127.5(EVC2):c.1626T>C (p.Phe542=)
|
|
|
|
NM_147127.5(EVC2):c.1629C>G (p.Thr543=)
|
|
|
|
NM_147127.5(EVC2):c.1629C>T (p.Thr543=)
|
|
|
|
NM_147127.5(EVC2):c.1659A>G (p.Glu553=)
|
|
|
|
NM_147127.5(EVC2):c.1671G>A (p.Glu557=)
|
rs2108851360
|
|
|
NM_147127.5(EVC2):c.1686G>A (p.Leu562=)
|
|
|
|
NM_147127.5(EVC2):c.1686G>T (p.Leu562=)
|
rs1236419324
|
|
|
NM_147127.5(EVC2):c.1689G>A (p.Leu563=)
|
rs2108851319
|
|
|
NM_147127.5(EVC2):c.1710+12G>A
|
|
|
|
NM_147127.5(EVC2):c.1710+14C>T
|
|
|
|
NM_147127.5(EVC2):c.1710+17G>A
|
|
|
|
NM_147127.5(EVC2):c.1710+17G>T
|
|
|
|
NM_147127.5(EVC2):c.1710+7C>T
|
rs2108851268
|
|
|
NM_147127.5(EVC2):c.1710+8A>C
|
|
|
|
NM_147127.5(EVC2):c.1710+8A>G
|
|
|
|
NM_147127.5(EVC2):c.1711-14T>C
|
|
|
|
NM_147127.5(EVC2):c.1711-18T>G
|
|
|
|
NM_147127.5(EVC2):c.1711-19T>A
|
|
|
|
NM_147127.5(EVC2):c.1711-9A>C
|
rs1716315517
|
|
|
NM_147127.5(EVC2):c.1734C>T (p.Asp578=)
|
|
|
|
NM_147127.5(EVC2):c.1749T>C (p.Ser583=)
|
|
|
|
NM_147127.5(EVC2):c.174C>T (p.Pro58=)
|
rs1317163956
|
|
|
NM_147127.5(EVC2):c.1752G>A (p.Lys584=)
|
rs762593768
|
|
|
NM_147127.5(EVC2):c.1762C>T (p.Leu588=)
|
|
|
|
NM_147127.5(EVC2):c.1764A>C (p.Leu588=)
|
|
|
|
NM_147127.5(EVC2):c.1767T>C (p.Ser589=)
|
rs2108847209
|
|
|
NM_147127.5(EVC2):c.1771A>C (p.Arg591=)
|
|
|
|
NM_147127.5(EVC2):c.1773A>G (p.Arg591=)
|
|
|
|
NM_147127.5(EVC2):c.1788A>G (p.Glu596=)
|
rs2108847187
|
|
|
NM_147127.5(EVC2):c.1791T>C (p.Tyr597=)
|
rs1716303868
|
|
|
NM_147127.5(EVC2):c.1794G>T (p.Leu598=)
|
rs1577179214
|
|
|
NM_147127.5(EVC2):c.1797C>T (p.Val599=)
|
rs2108847158
|
|
|
NM_147127.5(EVC2):c.1806C>G (p.Leu602=)
|
rs1172959079
|
|
|
NM_147127.5(EVC2):c.1806C>T (p.Leu602=)
|
|
|
|
NM_147127.5(EVC2):c.1812A>G (p.Ser604=)
|
rs781487000
|
|
|
NM_147127.5(EVC2):c.1821C>A (p.Thr607=)
|
|
|
|
NM_147127.5(EVC2):c.1833C>A (p.Gly611=)
|
rs879125910
|
|
|
NM_147127.5(EVC2):c.183G>A (p.Arg61=)
|
|
|
|
NM_147127.5(EVC2):c.1848T>G (p.Ala616=)
|
|
|
|
NM_147127.5(EVC2):c.1854C>G (p.Ala618=)
|
rs139729159
|
|
|
NM_147127.5(EVC2):c.1854C>T (p.Ala618=)
|
rs139729159
|
|
|
NM_147127.5(EVC2):c.1857G>A (p.Gln619=)
|
rs2108847045
|
|
|
NM_147127.5(EVC2):c.1860G>C (p.Leu620=)
|
rs763402206
|
|
|
NM_147127.5(EVC2):c.1866C>T (p.His622=)
|
rs1300374301
|
|
|
NM_147127.5(EVC2):c.1869C>T (p.Leu623=)
|
rs557920458
|
|
|
NM_147127.5(EVC2):c.186C>T (p.Ile62=)
|
|
|
|
NM_147127.5(EVC2):c.1878G>A (p.Lys626=)
|
rs1001648119
|
|
|
NM_147127.5(EVC2):c.1886+10A>C
|
rs2108846937
|
|
|
NM_147127.5(EVC2):c.1886+13A>G
|
|
|
|
NM_147127.5(EVC2):c.1886+16G>A
|
|
|
|
NM_147127.5(EVC2):c.1886+9C>G
|
|
|
|
NM_147127.5(EVC2):c.1886+9C>T
|
|
|
|
NM_147127.5(EVC2):c.1887-12C>T
|
|
|
|
NM_147127.5(EVC2):c.1887-15A>G
|
|
|
|
NM_147127.5(EVC2):c.1887-16C>T
|
|
|
|
NM_147127.5(EVC2):c.1887-17A>C
|
|
|
|
NM_147127.5(EVC2):c.1887-18T>C
|
|
|
|
NM_147127.5(EVC2):c.1887-19T>G
|
|
|
|
NM_147127.5(EVC2):c.1887-4C>G
|
rs376809175
|
|
|
NM_147127.5(EVC2):c.1887-4C>T
|
|
|
|
NM_147127.5(EVC2):c.1893G>A (p.Gly631=)
|
rs1363412492
|
|
|
NM_147127.5(EVC2):c.1923A>T (p.Leu641=)
|
rs1193715900
|
|
|
NM_147127.5(EVC2):c.1924T>C (p.Leu642=)
|
rs2108843348
|
|
|
NM_147127.5(EVC2):c.1932G>A (p.Arg644=)
|
rs1577175315
|
|
|
NM_147127.5(EVC2):c.1935T>C (p.Ala645=)
|
rs2108843316
|
|
|
NM_147127.5(EVC2):c.1935T>G (p.Ala645=)
|
|
|
|
NM_147127.5(EVC2):c.1941A>G (p.Thr647=)
|
rs2108843302
|
|
|
NM_147127.5(EVC2):c.1950T>C (p.Phe650=)
|
|
|
|
NM_147127.5(EVC2):c.1959G>A (p.Lys653=)
|
rs2108843274
|
|
|
NM_147127.5(EVC2):c.195G>T (p.Gly65=)
|
|
|
|
NM_147127.5(EVC2):c.1966T>C (p.Leu656=)
|
|
|
|
NM_147127.5(EVC2):c.198G>T (p.Arg66=)
|
|
|
|
NM_147127.5(EVC2):c.2001C>G (p.Leu667=)
|
rs756855227
|
|
|
NM_147127.5(EVC2):c.2007A>G (p.Gln669=)
|
|
|
|
NM_147127.5(EVC2):c.2011T>C (p.Leu671=)
|
|
|
|
NM_147127.5(EVC2):c.2019T>C (p.Thr673=)
|
rs2108843154
|
|
|
NM_147127.5(EVC2):c.2028A>G (p.Arg676=)
|
|
|
|
NM_147127.5(EVC2):c.2031A>G (p.Arg677=)
|
rs1577175103
|
|
|
NM_147127.5(EVC2):c.2037G>A (p.Leu679=)
|
|
|
|
NM_147127.5(EVC2):c.2038C>T (p.Leu680=)
|
|
|
|
NM_147127.5(EVC2):c.2046+10G>A
|
|
|
|
NM_147127.5(EVC2):c.2046+13T>C
|
|
|
|
NM_147127.5(EVC2):c.2046+14del
|
|
|
|
NM_147127.5(EVC2):c.2046+7A>G
|
rs769477288
|
|
|
NM_147127.5(EVC2):c.2047-10G>A
|
rs2108839481
|
|
|
NM_147127.5(EVC2):c.2047-17C>G
|
|
|
|
NM_147127.5(EVC2):c.2047-4C>G
|
rs2108839468
|
|
|
NM_147127.5(EVC2):c.2047-4C>T
|
|
|
|
NM_147127.5(EVC2):c.2047-9A>C
|
rs73198154
|
|
|
NM_147127.5(EVC2):c.2058G>A (p.Gln686=)
|
|
|
|
NM_147127.5(EVC2):c.2067G>A (p.Glu689=)
|
rs201506848
|
|
|
NM_147127.5(EVC2):c.2076C>G (p.Ser692=)
|
|
|
|
NM_147127.5(EVC2):c.2079C>A (p.Val693=)
|
rs201171209
|
|
|
NM_147127.5(EVC2):c.2082C>G (p.Gly694=)
|
|
|
|
NM_147127.5(EVC2):c.2085G>A (p.Glu695=)
|
|
|
|
NM_147127.5(EVC2):c.2097G>A (p.Thr699=)
|
|
|
|
NM_147127.5(EVC2):c.2121G>A (p.Leu707=)
|
|
|
|
NM_147127.5(EVC2):c.2137C>T (p.Leu713=)
|
rs143662104
|
|
|
NM_147127.5(EVC2):c.2139G>C (p.Leu713=)
|
rs1420713271
|
|
|
NM_147127.5(EVC2):c.213C>A (p.Pro71=)
|
rs956555128
|
|
|
NM_147127.5(EVC2):c.213C>G (p.Pro71=)
|
|
|
|
NM_147127.5(EVC2):c.2145G>A (p.Glu715=)
|
|
|
|
NM_147127.5(EVC2):c.2148G>A (p.Glu716=)
|
|
|
|
NM_147127.5(EVC2):c.2181T>A (p.Arg727=)
|
rs2108839127
|
|
|
NM_147127.5(EVC2):c.2187C>T (p.Asp729=)
|
|
|
|
NM_147127.5(EVC2):c.2197C>T (p.Leu733=)
|
|
|
|
NM_147127.5(EVC2):c.2199G>A (p.Leu733=)
|
|
|
|
NM_147127.5(EVC2):c.21G>C (p.Arg7=)
|
|
|
|
NM_147127.5(EVC2):c.2208C>A (p.Leu736=)
|
rs762567213
|
|
|
NM_147127.5(EVC2):c.2208C>G (p.Leu736=)
|
|
|
|
NM_147127.5(EVC2):c.2217G>T (p.Leu739=)
|
rs2108839042
|
|
|
NM_147127.5(EVC2):c.2220C>A (p.Thr740=)
|
rs1322356357
|
|
|
NM_147127.5(EVC2):c.2226G>T (p.Ser742=)
|
|
|
|
NM_147127.5(EVC2):c.2241C>T (p.Ala747=)
|
rs2108838978
|
|
|
NM_147127.5(EVC2):c.2256G>T (p.Arg752=)
|
rs745815880
|
|
|
NM_147127.5(EVC2):c.225G>A (p.Thr75=)
|
rs879806038
|
|
|
NM_147127.5(EVC2):c.225G>C (p.Thr75=)
|
|
|
|
NM_147127.5(EVC2):c.225G>T (p.Thr75=)
|
rs879806038
|
|
|
NM_147127.5(EVC2):c.2260C>T (p.Leu754=)
|
rs994924513
|
|
|
NM_147127.5(EVC2):c.2262G>C (p.Leu754=)
|
rs1715799265
|
|
|
NM_147127.5(EVC2):c.228+11C>T
|
|
|
|
NM_147127.5(EVC2):c.228+13C>T
|
|
|
|
NM_147127.5(EVC2):c.228+14G>A
|
|
|
|
NM_147127.5(EVC2):c.228+16C>T
|
|
|
|
NM_147127.5(EVC2):c.228+17C>A
|
|
|
|
NM_147127.5(EVC2):c.228+18C>G
|
|
|
|
NM_147127.5(EVC2):c.228+20A>C
|
|
|
|
NM_147127.5(EVC2):c.228+8G>A
|
rs965425013
|
|
|
NM_147127.5(EVC2):c.228+9G>T
|
|
|
|
NM_147127.5(EVC2):c.229-14C>G
|
|
|
|
NM_147127.5(EVC2):c.229-18G>C
|
|
|
|
NM_147127.5(EVC2):c.2292C>T (p.Leu764=)
|
|
|
|
NM_147127.5(EVC2):c.2301G>A (p.Gly767=)
|
rs374178504
|
|
|
NM_147127.5(EVC2):c.2301G>C (p.Gly767=)
|
rs374178504
|
|
|
NM_147127.5(EVC2):c.2304G>A (p.Val768=)
|
|
|
|
NM_147127.5(EVC2):c.2316C>T (p.Phe772=)
|
|
|
|
NM_147127.5(EVC2):c.2319G>A (p.Leu773=)
|
rs775800077
|
|
|
NM_147127.5(EVC2):c.231C>T (p.Asp77=)
|
|
|
|
NM_147127.5(EVC2):c.2322G>A (p.Gln774=)
|
|
|
|
NM_147127.5(EVC2):c.2328C>T (p.Ile776=)
|
rs2108838807
|
|
|
NM_147127.5(EVC2):c.2329C>T (p.Leu777=)
|
|
|
|
NM_147127.5(EVC2):c.232T>C (p.Leu78=)
|
|
|
|
NM_147127.5(EVC2):c.2346G>A (p.Lys782=)
|
rs2108838756
|
|
|
NM_147127.5(EVC2):c.234G>A (p.Leu78=)
|
|
|
|
NM_147127.5(EVC2):c.2355T>C (p.Ala785=)
|
|
|
|
NM_147127.5(EVC2):c.2358A>G (p.Ala786=)
|
rs903048338
|
|
|
NM_147127.5(EVC2):c.2359C>A (p.Arg787=)
|
rs776830520
|
|
|
NM_147127.5(EVC2):c.2361G>A (p.Arg787=)
|
|
|
|
NM_147127.5(EVC2):c.2361G>T (p.Arg787=)
|
rs1041638769
|
|
|
NM_147127.5(EVC2):c.2373G>A (p.Leu791=)
|
|
|
|
NM_147127.5(EVC2):c.2373G>T (p.Leu791=)
|
rs762295916
|
|
|
NM_147127.5(EVC2):c.237C>G (p.Pro79=)
|
rs1721565602
|
|
|
NM_147127.5(EVC2):c.2382G>A (p.Glu794=)
|
|
|
|
NM_147127.5(EVC2):c.2385G>A (p.Glu795=)
|
|
|
|
NM_147127.5(EVC2):c.2392A>C (p.Arg798=)
|
|
|
|
NM_147127.5(EVC2):c.2406T>C (p.Gly802=)
|
|
|
|
NM_147127.5(EVC2):c.2412G>A (p.Gln804=)
|
rs1715777770
|
|
|
NM_147127.5(EVC2):c.2415C>T (p.Ser805=)
|
|
|
|
NM_147127.5(EVC2):c.2427A>G (p.Arg809=)
|
|
|
|
NM_147127.5(EVC2):c.2433G>A (p.Lys811=)
|
rs2108838539
|
|
|
NM_147127.5(EVC2):c.2451C>A (p.Ala817=)
|
|
|
|
NM_147127.5(EVC2):c.2451C>G (p.Ala817=)
|
rs377709998
|
|
|
NM_147127.5(EVC2):c.2454G>A (p.Val818=)
|
|
|
|
NM_147127.5(EVC2):c.2469A>C (p.Ala823=)
|
|
|
|
NM_147127.5(EVC2):c.2472G>A (p.Glu824=)
|
|
|
|
NM_147127.5(EVC2):c.2473C>T (p.Leu825=)
|
rs774185697
|
|
|
NM_147127.5(EVC2):c.2481C>T (p.Arg827=)
|
rs1577169762
|
|
|
NM_147127.5(EVC2):c.2490C>T (p.His830=)
|
rs944565097
|
|
|
NM_147127.5(EVC2):c.2493G>A (p.Leu831=)
|
rs369796222
|
|
|
NM_147127.5(EVC2):c.2493G>T (p.Leu831=)
|
|
|
|
NM_147127.5(EVC2):c.24G>A (p.Gly8=)
|
rs989328461
|
|
|
NM_147127.5(EVC2):c.24G>T (p.Gly8=)
|
rs989328461
|
|
|
NM_147127.5(EVC2):c.2501+14C>T
|
|
|
|
NM_147127.5(EVC2):c.2501+15G>A
|
|
|
|
NM_147127.5(EVC2):c.2501+17G>T
|
rs755613338
|
|
|
NM_147127.5(EVC2):c.2501+19C>T
|
|
|
|
NM_147127.5(EVC2):c.2501+20G>C
|
|
|
|
NM_147127.5(EVC2):c.2501+7G>A
|
|
|
|
NM_147127.5(EVC2):c.2502-11C>G
|
|
|
|
NM_147127.5(EVC2):c.2502-12T>G
|
|
|
|
NM_147127.5(EVC2):c.2502-18C>G
|
|
|
|
NM_147127.5(EVC2):c.2502-20G>A
|
|
|
|
NM_147127.5(EVC2):c.2502-20G>C
|
|
|
|
NM_147127.5(EVC2):c.2502-7C>T
|
|
|
|
NM_147127.5(EVC2):c.2505G>A (p.Lys835=)
|
rs527993206
|
|
|
NM_147127.5(EVC2):c.2508C>G (p.Leu836=)
|
|
|
|
NM_147127.5(EVC2):c.2508C>T (p.Leu836=)
|
|
|
|
NM_147127.5(EVC2):c.2514C>A (p.Ser838=)
|
rs1715456441
|
|
|
NM_147127.5(EVC2):c.2526C>T (p.Ser842=)
|
|
|
|
NM_147127.5(EVC2):c.2529G>C (p.Leu843=)
|
|
|
|
NM_147127.5(EVC2):c.2535A>G (p.Glu845=)
|
|
|
|
NM_147127.5(EVC2):c.2541G>A (p.Glu847=)
|
|
|
|
NM_147127.5(EVC2):c.2542C>T (p.Leu848=)
|
|
|
|
NM_147127.5(EVC2):c.2544G>A (p.Leu848=)
|
rs761816687
|
|
|
NM_147127.5(EVC2):c.2544G>C (p.Leu848=)
|
rs761816687
|
|
|
NM_147127.5(EVC2):c.2568T>C (p.His856=)
|
|
|
|
NM_147127.5(EVC2):c.2583G>A (p.Gln861=)
|
|
|
|
NM_147127.5(EVC2):c.258G>A (p.Val86=)
|
|
|
|
NM_147127.5(EVC2):c.2604C>G (p.Leu868=)
|
|
|
|
NM_147127.5(EVC2):c.2614C>A (p.Arg872=)
|
|
|
|
NM_147127.5(EVC2):c.2616G>C (p.Arg872=)
|
rs1715442469
|
|
|
NM_147127.5(EVC2):c.2619C>G (p.Ala873=)
|
|
|
|
NM_147127.5(EVC2):c.2619C>T (p.Ala873=)
|
|
|
|
NM_147127.5(EVC2):c.261A>G (p.Glu87=)
|
rs1721564411
|
|
|
NM_147127.5(EVC2):c.2620C>A (p.Arg874=)
|
rs760382778
|
|
|
NM_147127.5(EVC2):c.2631G>T (p.Leu877=)
|
rs2108833246
|
|
|
NM_147127.5(EVC2):c.2649G>T (p.Ala883=)
|
rs751714104
|
|
|
NM_147127.5(EVC2):c.264C>T (p.Cys88=)
|
|
|
|
NM_147127.5(EVC2):c.2658A>G (p.Glu886=)
|
rs2108833172
|
|
|
NM_147127.5(EVC2):c.2661A>C (p.Ala887=)
|
|
|
|
NM_147127.5(EVC2):c.2661A>G (p.Ala887=)
|
|
|
|
NM_147127.5(EVC2):c.2676G>A (p.Leu892=)
|
rs2108833128
|
|
|
NM_147127.5(EVC2):c.2676G>T (p.Leu892=)
|
|
|
|
NM_147127.5(EVC2):c.2679C>T (p.Asp893=)
|
|
|
|
NM_147127.5(EVC2):c.2682G>A (p.Gln894=)
|
rs772672973
|
|
|
NM_147127.5(EVC2):c.2694C>G (p.Ala898=)
|
|
|
|
NM_147127.5(EVC2):c.2703G>A (p.Leu901=)
|
rs902054124
|
|
|
NM_147127.5(EVC2):c.2706+10A>G
|
|
|
|
NM_147127.5(EVC2):c.2706+11C>G
|
|
|
|
NM_147127.5(EVC2):c.2706+13T>A
|
|
|
|
NM_147127.5(EVC2):c.2706+16C>G
|
|
|
|
NM_147127.5(EVC2):c.2707-11C>T
|
|
|
|
NM_147127.5(EVC2):c.2707-15C>G
|
rs2108829132
|
|
|
NM_147127.5(EVC2):c.2707-15C>T
|
|
|
|
NM_147127.5(EVC2):c.2707-4C>G
|
rs1368840473
|
|
|
NM_147127.5(EVC2):c.2707-6C>T
|
rs2108829097
|
|
|
NM_147127.5(EVC2):c.2707-7_2707-6insA
|
|
|
|
NM_147127.5(EVC2):c.2712G>A (p.Gln904=)
|
rs2108829070
|
|
|
NM_147127.5(EVC2):c.2727G>A (p.Lys909=)
|
|
|
|
NM_147127.5(EVC2):c.2730A>G (p.Ser910=)
|
|
|
|
NM_147127.5(EVC2):c.2736C>G (p.Ser912=)
|
|
|
|
NM_147127.5(EVC2):c.273T>C (p.Phe91=)
|
rs2151739532
|
|
|
NM_147127.5(EVC2):c.2742T>C (p.Ser914=)
|
|
|
|
NM_147127.5(EVC2):c.2757G>A (p.Glu919=)
|
rs2108828983
|
|
|
NM_147127.5(EVC2):c.2761C>T (p.Leu921=)
|
|
|
|
NM_147127.5(EVC2):c.2775C>A (p.Ile925=)
|
rs772481704
|
|
|
NM_147127.5(EVC2):c.2775C>T (p.Ile925=)
|
rs772481704
|
|
|
NM_147127.5(EVC2):c.2781C>T (p.Asp927=)
|
rs1193965705
|
|
|
NM_147127.5(EVC2):c.2796T>C (p.Cys932=)
|
|
|
|
NM_147127.5(EVC2):c.279T>G (p.Thr93=)
|
|
|
|
NM_147127.5(EVC2):c.27C>G (p.Arg9=)
|
rs2151750187
|
|
|
NM_147127.5(EVC2):c.27C>T (p.Arg9=)
|
|
|
|
NM_147127.5(EVC2):c.2811T>C (p.Ser937=)
|
|
|
|
NM_147127.5(EVC2):c.2820G>C (p.Leu940=)
|
rs145709352
|
|
|
NM_147127.5(EVC2):c.2823G>A (p.Val941=)
|
|
|
|
NM_147127.5(EVC2):c.2829+11C>G
|
|
|
|
NM_147127.5(EVC2):c.2829+12T>G
|
|
|
|
NM_147127.5(EVC2):c.283+15T>C
|
|
|
|
NM_147127.5(EVC2):c.283+15del
|
|
|
|
NM_147127.5(EVC2):c.283+17G>A
|
|
|
|
NM_147127.5(EVC2):c.2830-10C>T
|
|
|
|
NM_147127.5(EVC2):c.2830-15C>A
|
|
|
|
NM_147127.5(EVC2):c.2830-18A>C
|
|
|
|
NM_147127.5(EVC2):c.2830-19C>T
|
|
|
|
NM_147127.5(EVC2):c.2830-5C>G
|
rs1712137643
|
|
|
NM_147127.5(EVC2):c.2830-5C>T
|
|
|
|
NM_147127.5(EVC2):c.2830-7C>T
|
|
|
|
NM_147127.5(EVC2):c.2830-8C>T
|
rs548370448
|
|
|
NM_147127.5(EVC2):c.2830-9C>T
|
rs1414864322
|
|
|
NM_147127.5(EVC2):c.2832T>G (p.Val944=)
|
|
|
|
NM_147127.5(EVC2):c.2838T>C (p.Gly946=)
|
rs764538071
|
|
|
NM_147127.5(EVC2):c.284-10T>G
|
rs1192584069
|
|
|
NM_147127.5(EVC2):c.284-11T>C
|
|
|
|
NM_147127.5(EVC2):c.284-14T>C
|
|
|
|
NM_147127.5(EVC2):c.284-14T>G
|
|
|
|
NM_147127.5(EVC2):c.284-15GTT[2]
|
|
|
|
NM_147127.5(EVC2):c.284-16T>C
|
|
|
|
NM_147127.5(EVC2):c.284-19G>A
|
|
|
|
NM_147127.5(EVC2):c.284-20G>T
|
|
|
|
NM_147127.5(EVC2):c.284-5T>C
|
rs994568319
|
|
|
NM_147127.5(EVC2):c.2842T>C (p.Leu948=)
|
rs2108788809
|
|
|
NM_147127.5(EVC2):c.2847G>C (p.Leu949=)
|
rs763331726
|
|
|
NM_147127.5(EVC2):c.2848C>A (p.Arg950=)
|
|
|
|
NM_147127.5(EVC2):c.2871G>A (p.Glu957=)
|
|
|
|
NM_147127.5(EVC2):c.2877G>A (p.Gln959=)
|
|
|
|
NM_147127.5(EVC2):c.2880G>A (p.Glu960=)
|
rs903682822
|
|
|
NM_147127.5(EVC2):c.2886C>T (p.Gly962=)
|
|
|
|
NM_147127.5(EVC2):c.2898G>T (p.Ser966=)
|
rs150055324
|
|
|
NM_147127.5(EVC2):c.2901T>C (p.Leu967=)
|
|
|
|
NM_147127.5(EVC2):c.2919G>A (p.Gln973=)
|
rs759657816
|
|
|
NM_147127.5(EVC2):c.291A>C (p.Ala97=)
|
rs752850734
|
|
|
NM_147127.5(EVC2):c.2928C>A (p.Ser976=)
|
rs2108788636
|
|
|
NM_147127.5(EVC2):c.2928C>T (p.Ser976=)
|
|
|
|
NM_147127.5(EVC2):c.2937C>A (p.Thr979=)
|
rs750126669
|
|
|
NM_147127.5(EVC2):c.2940G>A (p.Glu980=)
|
rs2108788600
|
|
|
NM_147127.5(EVC2):c.2943T>C (p.Thr981=)
|
rs2108788584
|
|
|
NM_147127.5(EVC2):c.2944C>T (p.Leu982=)
|
rs927421145
|
|
|
NM_147127.5(EVC2):c.2946G>A (p.Leu982=)
|
rs2108788572
|
|
|
NM_147127.5(EVC2):c.2946G>C (p.Leu982=)
|
|
|
|
NM_147127.5(EVC2):c.294A>C (p.Pro98=)
|
|
|
|
NM_147127.5(EVC2):c.2955C>T (p.Tyr985=)
|
rs2108788542
|
|
|
NM_147127.5(EVC2):c.2961C>A (p.Ala987=)
|
|
|
|
NM_147127.5(EVC2):c.2967C>T (p.Leu989=)
|
rs2108788495
|
|
|
NM_147127.5(EVC2):c.2979C>T (p.Asp993=)
|
|
|
|
NM_147127.5(EVC2):c.2980T>C (p.Leu994=)
|
rs2108788479
|
|
|
NM_147127.5(EVC2):c.2986C>T (p.Leu996=)
|
|
|
|
NM_147127.5(EVC2):c.2988G>A (p.Leu996=)
|
|
|
|
NM_147127.5(EVC2):c.2988G>T (p.Leu996=)
|
|
|
|
NM_147127.5(EVC2):c.3003A>G (p.Ala1001=)
|
rs1577118232
|
|
|
NM_147127.5(EVC2):c.3015G>A (p.Leu1005=)
|
rs1577118206
|
|
|
NM_147127.5(EVC2):c.3027C>T (p.Ala1009=)
|
|
|
|
NM_147127.5(EVC2):c.3039_3040delinsTG (p.Leu1014Val)
|
rs2108788322
|
|
|
NM_147127.5(EVC2):c.3048G>T (p.Ser1016=)
|
rs182310332
|
|
|
NM_147127.5(EVC2):c.3051C>T (p.His1017=)
|
rs2108788303
|
|
|
NM_147127.5(EVC2):c.3055C>A (p.Arg1019=)
|
|
|
|
NM_147127.5(EVC2):c.3057+10G>T
|
rs2108788255
|
|
|
NM_147127.5(EVC2):c.3057+11G>A
|
|
|
|
NM_147127.5(EVC2):c.3057+11G>T
|
|
|
|
NM_147127.5(EVC2):c.3057+12C>T
|
|
|
|
NM_147127.5(EVC2):c.3057+14_3057+16del
|
|
|
|
NM_147127.5(EVC2):c.3057+15T>C
|
|
|
|
NM_147127.5(EVC2):c.3057+9A>C
|
rs774288170
|
|
|
NM_147127.5(EVC2):c.3057+9A>T
|
|
|
|
NM_147127.5(EVC2):c.3058-17G>A
|
|
|
|
NM_147127.5(EVC2):c.3058-20T>C
|
|
|
|
NM_147127.5(EVC2):c.3058-4G>T
|
rs1490949079
|
|
|
NM_147127.5(EVC2):c.3058-7T>C
|
|
|
|
NM_147127.5(EVC2):c.3058-9C>T
|
rs1722942659
|
|
|
NM_147127.5(EVC2):c.3069G>A (p.Glu1023=)
|
rs2108778947
|
|
|
NM_147127.5(EVC2):c.306A>G (p.Lys102=)
|
rs2151736755
|
|
|
NM_147127.5(EVC2):c.3075G>A (p.Glu1025=)
|
rs1208477150
|
|
|
NM_147127.5(EVC2):c.3093G>A (p.Gln1031=)
|
rs1429408396
|
|
|
NM_147127.5(EVC2):c.3096G>C (p.Leu1032=)
|
rs2108778905
|
|
|
NM_147127.5(EVC2):c.3099G>A (p.Val1033=)
|
rs2108778897
|
|
|
NM_147127.5(EVC2):c.309G>A (p.Leu103=)
|
|
|
|
NM_147127.5(EVC2):c.30C>A (p.Pro10=)
|
rs1193570001
|
|
|
NM_147127.5(EVC2):c.3102G>A (p.Gln1034=)
|
|
|
|
NM_147127.5(EVC2):c.3135G>A (p.Ala1045=)
|
|
|
|
NM_147127.5(EVC2):c.3135G>C (p.Ala1045=)
|
rs767047805
|
|
|
NM_147127.5(EVC2):c.3138C>T (p.Ser1046=)
|
|
|
|
NM_147127.5(EVC2):c.3156C>G (p.Ala1052=)
|
rs770163191
|
|
|
NM_147127.5(EVC2):c.3168G>A (p.Gly1056=)
|
rs778954685
|
|
|
NM_147127.5(EVC2):c.3171T>A (p.Ile1057=)
|
|
|
|
NM_147127.5(EVC2):c.3172C>T (p.Leu1058=)
|
|
|
|
NM_147127.5(EVC2):c.3177C>T (p.Asn1059=)
|
|
|
|
NM_147127.5(EVC2):c.3207G>A (p.Gln1069=)
|
rs2108778699
|
|
|
NM_147127.5(EVC2):c.3210C>G (p.Val1070=)
|
rs1722925677
|
|
|
NM_147127.5(EVC2):c.3220C>T (p.Leu1074=)
|
rs2108778665
|
|
|
NM_147127.5(EVC2):c.3225C>T (p.His1075=)
|
rs2108778650
|
|
|
NM_147127.5(EVC2):c.3234G>A (p.Leu1078=)
|
|
|
|
NM_147127.5(EVC2):c.3240G>A (p.Lys1080=)
|
rs779116122
|
|
|
NM_147127.5(EVC2):c.3258G>A (p.Glu1086=)
|
rs1235779972
|
|
|
NM_147127.5(EVC2):c.3272+20G>A
|
|
|
|
NM_147127.5(EVC2):c.3272+20G>T
|
|
|
|
NM_147127.5(EVC2):c.3272+8G>T
|
|
|
|
NM_147127.5(EVC2):c.3273-19T>C
|
|
|
|
NM_147127.5(EVC2):c.3273-6C>T
|
|
|
|
NM_147127.5(EVC2):c.3273-7A>C
|
|
|
|
NM_147127.5(EVC2):c.3273-7A>G
|
rs1382818953
|
|
|
NM_147127.5(EVC2):c.3273-7dup
|
rs2108777051
|
|
|
NM_147127.5(EVC2):c.3273-8C>A
|
|
|
|
NM_147127.5(EVC2):c.3285A>G (p.Glu1095=)
|
rs1462214483
|
|
|
NM_147127.5(EVC2):c.3300C>T (p.Val1100=)
|
rs1577106532
|
|
|
NM_147127.5(EVC2):c.3303G>T (p.Val1101=)
|
|
|
|
NM_147127.5(EVC2):c.3315G>A (p.Leu1105=)
|
rs1006097259
|
|
|
NM_147127.5(EVC2):c.3316T>C (p.Leu1106=)
|
|
|
|
NM_147127.5(EVC2):c.3330G>A (p.Glu1110=)
|
|
|
|
NM_147127.5(EVC2):c.3351G>C (p.Leu1117=)
|
rs1722813978
|
|
|
NM_147127.5(EVC2):c.3360+16del
|
|
|
|
NM_147127.5(EVC2):c.3361-10T>C
|
rs2108771027
|
|
|
NM_147127.5(EVC2):c.3361-11G>A
|
rs369005788
|
|
|
NM_147127.5(EVC2):c.3361-14G>A
|
|
|
|
NM_147127.5(EVC2):c.3361-18C>T
|
|
|
|
NM_147127.5(EVC2):c.3361-20C>T
|
|
|
|
NM_147127.5(EVC2):c.3361-7C>T
|
rs772860972
|
|
|
NM_147127.5(EVC2):c.3361-8T>A
|
rs1358459718
|
|
|
NM_147127.5(EVC2):c.3367A>C (p.Arg1123=)
|
|
|
|
NM_147127.5(EVC2):c.336A>G (p.Pro112=)
|
|
|
|
NM_147127.5(EVC2):c.3370C>T (p.Leu1124=)
|
rs1722461930
|
|
|
NM_147127.5(EVC2):c.3381C>T (p.Tyr1127=)
|
rs2108770980
|
|
|
NM_147127.5(EVC2):c.3387G>A (p.Ala1129=)
|
rs752793772
|
|
|
NM_147127.5(EVC2):c.339C>G (p.Leu113=)
|
|
|
|
NM_147127.5(EVC2):c.3414G>T (p.Thr1138=)
|
|
|
|
NM_147127.5(EVC2):c.3420C>T (p.Arg1140=)
|
|
|
|
NM_147127.5(EVC2):c.3423G>A (p.Arg1141=)
|
rs1577099807
|
|
|
NM_147127.5(EVC2):c.3426C>G (p.Leu1142=)
|
|
|
|
NM_147127.5(EVC2):c.3429G>A (p.Leu1143=)
|
|
|
|
NM_147127.5(EVC2):c.3429G>C (p.Leu1143=)
|
rs2108770885
|
|
|
NM_147127.5(EVC2):c.3435G>A (p.Val1145=)
|
|
|
|
NM_147127.5(EVC2):c.3441G>T (p.Leu1147=)
|
|
|
|
NM_147127.5(EVC2):c.3450C>T (p.Ala1150=)
|
|
|
|
NM_147127.5(EVC2):c.3456G>A (p.Gln1152=)
|
rs1722452266
|
|
|
NM_147127.5(EVC2):c.3466C>T (p.Leu1156=)
|
rs2108770821
|
|
|
NM_147127.5(EVC2):c.3471C>A (p.Ala1157=)
|
|
|
|
NM_147127.5(EVC2):c.3471C>G (p.Ala1157=)
|
rs1722451421
|
|
|
NM_147127.5(EVC2):c.3472C>T (p.Leu1158=)
|
|
|
|
NM_147127.5(EVC2):c.3474G>A (p.Leu1158=)
|
|
|
|
NM_147127.5(EVC2):c.3474G>C (p.Leu1158=)
|
rs760612657
|
|
|
NM_147127.5(EVC2):c.3475C>T (p.Leu1159=)
|
|
|
|
NM_147127.5(EVC2):c.3489C>G (p.Thr1163=)
|
rs370368827
|
|
|
NM_147127.5(EVC2):c.3501G>T (p.Val1167=)
|
|
|
|
NM_147127.5(EVC2):c.3504C>T (p.Asp1168=)
|
|
|
|
NM_147127.5(EVC2):c.3510A>G (p.Ala1170=)
|
|
|
|
NM_147127.5(EVC2):c.3525C>T (p.Gly1175=)
|
rs767393828
|
|
|
NM_147127.5(EVC2):c.3531G>C (p.Ala1177=)
|
|
|
|
NM_147127.5(EVC2):c.3540C>G (p.Ala1180=)
|
rs373829825
|
|
|
NM_147127.5(EVC2):c.3546G>A (p.Val1182=)
|
|
|
|
NM_147127.5(EVC2):c.3546G>C (p.Val1182=)
|
rs2108770634
|
|
|
NM_147127.5(EVC2):c.354C>A (p.Ala118=)
|
|
|
|
NM_147127.5(EVC2):c.354C>G (p.Ala118=)
|
rs915274674
|
|
|
NM_147127.5(EVC2):c.3552G>A (p.Arg1184=)
|
rs1376155432
|
|
|
NM_147127.5(EVC2):c.3553C>A (p.Arg1185=)
|
rs545528367
|
|
|
NM_147127.5(EVC2):c.3557+10G>T
|
|
|
|
NM_147127.5(EVC2):c.3557+15G>A
|
|
|
|
NM_147127.5(EVC2):c.3557+15G>C
|
|
|
|
NM_147127.5(EVC2):c.3557+18G>A
|
|
|
|
NM_147127.5(EVC2):c.3557+18G>T
|
|
|
|
NM_147127.5(EVC2):c.3557+20T>C
|
|
|
|
NM_147127.5(EVC2):c.3557+9C>G
|
|
|
|
NM_147127.5(EVC2):c.3558-12T>C
|
|
|
|
NM_147127.5(EVC2):c.3558-19A>G
|
|
|
|
NM_147127.5(EVC2):c.3558-19A>T
|
|
|
|
NM_147127.5(EVC2):c.3558-4G>A
|
rs746098929
|
|
|
NM_147127.5(EVC2):c.3558-4G>T
|
|
|
|
NM_147127.5(EVC2):c.3558-6C>G
|
|
|
|
NM_147127.5(EVC2):c.3558-7C>T
|
rs2108767379
|
|
|
NM_147127.5(EVC2):c.3558-9del
|
rs2108767385
|
|
|
NM_147127.5(EVC2):c.3564C>T (p.His1188=)
|
|
|
|
NM_147127.5(EVC2):c.3570C>T (p.Ser1190=)
|
|
|
|
NM_147127.5(EVC2):c.3588T>C (p.Asp1196=)
|
rs1485389885
|
|
|
NM_147127.5(EVC2):c.3609G>A (p.Leu1203=)
|
rs754595798
|
|
|
NM_147127.5(EVC2):c.3634C>T (p.Leu1212=)
|
rs1392499941
|
|
|
NM_147127.5(EVC2):c.3642C>G (p.Ala1214=)
|
|
|
|
NM_147127.5(EVC2):c.3642C>T (p.Ala1214=)
|
|
|
|
NM_147127.5(EVC2):c.3659+10G>T
|
|
|
|
NM_147127.5(EVC2):c.3659+12C>T
|
|
|
|
NM_147127.5(EVC2):c.3659+13A>G
|
|
|
|
NM_147127.5(EVC2):c.3659+14C>G
|
|
|
|
NM_147127.5(EVC2):c.3659+17_3659+18insGGGGA
|
|
|
|
NM_147127.5(EVC2):c.3659+20C>T
|
|
|
|
NM_147127.5(EVC2):c.3660-12C>A
|
|
|
|
NM_147127.5(EVC2):c.3660-12C>T
|
|
|
|
NM_147127.5(EVC2):c.3660-15T>C
|
|
|
|
NM_147127.5(EVC2):c.3660-18C>G
|
|
|
|
NM_147127.5(EVC2):c.3660-18C>T
|
|
|
|
NM_147127.5(EVC2):c.3660-5T>C
|
rs2108765328
|
|
|
NM_147127.5(EVC2):c.3660-6C>T
|
rs1722062295
|
|
|
NM_147127.5(EVC2):c.3672G>A (p.Lys1224=)
|
rs1722060400
|
|
|
NM_147127.5(EVC2):c.3687C>G (p.Leu1229=)
|
rs1157926409
|
|
|
NM_147127.5(EVC2):c.3696G>A (p.Arg1232=)
|
rs150551872
|
|
|
NM_147127.5(EVC2):c.3702A>C (p.Ile1234=)
|
rs375566943
|
|
|
NM_147127.5(EVC2):c.3711A>G (p.Gly1237=)
|
rs2108765239
|
|
|
NM_147127.5(EVC2):c.3726A>G (p.Pro1242=)
|
|
|
|
NM_147127.5(EVC2):c.3729C>T (p.His1243=)
|
|
|
|
NM_147127.5(EVC2):c.3730C>T (p.Leu1244=)
|
|
|
|
NM_147127.5(EVC2):c.3732G>T (p.Leu1244=)
|
rs774269538
|
|
|
NM_147127.5(EVC2):c.3741G>A (p.Glu1247=)
|
|
|
|
NM_147127.5(EVC2):c.3750C>A (p.Gly1250=)
|
|
|
|
NM_147127.5(EVC2):c.3750C>G (p.Gly1250=)
|
|
|
|
NM_147127.5(EVC2):c.3762T>G (p.Pro1254=)
|
rs1260164978
|
|
|
NM_147127.5(EVC2):c.3774A>C (p.Val1258=)
|
|
|
|
NM_147127.5(EVC2):c.3774A>T (p.Val1258=)
|
rs2108765124
|
|
|
NM_147127.5(EVC2):c.3795A>G (p.Leu1265=)
|
|
|
|
NM_147127.5(EVC2):c.3796T>C (p.Leu1266=)
|
|
|
|
NM_147127.5(EVC2):c.379T>C (p.Leu127=)
|
|
|
|
NM_147127.5(EVC2):c.3810G>A (p.Glu1270=)
|
|
|
|
NM_147127.5(EVC2):c.3813G>A (p.Lys1271=)
|
|
|
|
NM_147127.5(EVC2):c.3816C>G (p.Leu1272=)
|
|
|
|
NM_147127.5(EVC2):c.3819T>C (p.Phe1273=)
|
|
|
|
NM_147127.5(EVC2):c.3822A>C (p.Ile1274=)
|
rs2108765040
|
|
|
NM_147127.5(EVC2):c.3822A>T (p.Ile1274=)
|
rs2108765040
|
|
|
NM_147127.5(EVC2):c.3849C>A (p.Ile1283=)
|
|
|
|
NM_147127.5(EVC2):c.3853C>T (p.Leu1285=)
|
rs2108764998
|
|
|
NM_147127.5(EVC2):c.3855G>A (p.Leu1285=)
|
rs1722042643
|
|
|
NM_147127.5(EVC2):c.3868A>C (p.Arg1290=)
|
|
|
|
NM_147127.5(EVC2):c.3870G>A (p.Arg1290=)
|
|
|
|
NM_147127.5(EVC2):c.3909G>A (p.Arg1303=)
|
rs2108764900
|
|
|
NM_147127.5(EVC2):c.396C>T (p.Pro132=)
|
|
|
|
NM_147127.5(EVC2):c.399C>T (p.Ser133=)
|
rs2151736611
|
|
|
NM_147127.5(EVC2):c.417A>G (p.Leu139=)
|
rs2151736587
|
|
|
NM_147127.5(EVC2):c.423A>G (p.Lys141=)
|
|
|
|
NM_147127.5(EVC2):c.426A>G (p.Arg142=)
|
|
|
|
NM_147127.5(EVC2):c.447C>A (p.Arg149=)
|
|
|
|
NM_147127.5(EVC2):c.447C>T (p.Arg149=)
|
|
|
|
NM_147127.5(EVC2):c.450+10_450+14del
|
rs2151736515
|
|
|
NM_147127.5(EVC2):c.450+12G>A
|
|
|
|
NM_147127.5(EVC2):c.450+15C>A
|
|
|
|
NM_147127.5(EVC2):c.450+15C>G
|
|
|
|
NM_147127.5(EVC2):c.450+15C>T
|
|
|
|
NM_147127.5(EVC2):c.450+16A>G
|
|
|
|
NM_147127.5(EVC2):c.450+17A>T
|
rs370958428
|
|
|
NM_147127.5(EVC2):c.450+18T>C
|
|
|
|
NM_147127.5(EVC2):c.450+8T>C
|
|
|
|
NM_147127.5(EVC2):c.450+9T>C
|
rs2151736518
|
|
|
NM_147127.5(EVC2):c.451-13C>T
|
|
|
|
NM_147127.5(EVC2):c.451-16T>C
|
|
|
|
NM_147127.5(EVC2):c.451-17T>C
|
|
|
|
NM_147127.5(EVC2):c.451-18T>G
|
|
|
|
NM_147127.5(EVC2):c.451-7dup
|
|
|
|
NM_147127.5(EVC2):c.451-8T>C
|
rs1721108385
|
|
|
NM_147127.5(EVC2):c.451-9T>C
|
|
|
|
NM_147127.5(EVC2):c.45C>G (p.Ala15=)
|
rs1285560156
|
|
|
NM_147127.5(EVC2):c.465A>C (p.Ser155=)
|
rs1001393610
|
|
|
NM_147127.5(EVC2):c.466A>C (p.Arg156=)
|
|
|
|
NM_147127.5(EVC2):c.486T>G (p.Ser162=)
|
|
|
|
NM_147127.5(EVC2):c.489A>G (p.Glu163=)
|
rs2151733929
|
|
|
NM_147127.5(EVC2):c.492T>C (p.Asn164=)
|
|
|
|
NM_147127.5(EVC2):c.495A>C (p.Gly165=)
|
|
|
|
NM_147127.5(EVC2):c.498A>T (p.Val166=)
|
|
|
|
NM_147127.5(EVC2):c.516A>G (p.Ala172=)
|
|
|
|
NM_147127.5(EVC2):c.517C>T (p.Leu173=)
|
rs2151733903
|
|
|
NM_147127.5(EVC2):c.519+20G>A
|
|
|
|
NM_147127.5(EVC2):c.519+7T>G
|
|
|
|
NM_147127.5(EVC2):c.520-10_520-8del
|
|
|
|
NM_147127.5(EVC2):c.520-13C>T
|
|
|
|
NM_147127.5(EVC2):c.520-14T>G
|
|
|
|
NM_147127.5(EVC2):c.520-18C>T
|
rs2151731962
|
|
|
NM_147127.5(EVC2):c.520-19C>G
|
|
|
|
NM_147127.5(EVC2):c.520-19C>T
|
|
|
|
NM_147127.5(EVC2):c.520-4C>G
|
|
|
|
NM_147127.5(EVC2):c.520-4C>T
|
rs764449545
|
|
|
NM_147127.5(EVC2):c.520-5C>T
|
|
|
|
NM_147127.5(EVC2):c.520-8T>C
|
rs2151731945
|
|
|
NM_147127.5(EVC2):c.520-9C>G
|
|
|
|
NM_147127.5(EVC2):c.525T>C (p.Ser175=)
|
|
|
|
NM_147127.5(EVC2):c.531G>T (p.Ser177=)
|
rs146658261
|
|
|
NM_147127.5(EVC2):c.543G>A (p.Gln181=)
|
|
|
|
NM_147127.5(EVC2):c.549C>T (p.Ala183=)
|
|
|
|
NM_147127.5(EVC2):c.54C>G (p.Leu18=)
|
|
|
|
NM_147127.5(EVC2):c.552C>T (p.Arg184=)
|
|
|
|
NM_147127.5(EVC2):c.573C>T (p.Asn191=)
|
|
|
|
NM_147127.5(EVC2):c.579G>A (p.Lys193=)
|
|
|
|
NM_147127.5(EVC2):c.57G>A (p.Leu19=)
|
|
|
|
NM_147127.5(EVC2):c.585C>T (p.Thr195=)
|
|
|
|
NM_147127.5(EVC2):c.588G>C (p.Ser196=)
|
|
|
|
NM_147127.5(EVC2):c.594C>A (p.Ala198=)
|
rs1482138140
|
|
|
NM_147127.5(EVC2):c.597C>T (p.Asn199=)
|
rs1003816966
|
|
|
NM_147127.5(EVC2):c.600C>T (p.Leu200=)
|
|
|
|
NM_147127.5(EVC2):c.603G>A (p.Ser201=)
|
|
|
|
NM_147127.5(EVC2):c.609G>A (p.Leu203=)
|
|
|
|
NM_147127.5(EVC2):c.60A>G (p.Ala20=)
|
|
|
|
NM_147127.5(EVC2):c.616C>T (p.Leu206=)
|
|
|
|
NM_147127.5(EVC2):c.618G>T (p.Leu206=)
|
|
|
|
NM_147127.5(EVC2):c.627T>A (p.Ile209=)
|
rs1415784175
|
|
|
NM_147127.5(EVC2):c.627T>C (p.Ile209=)
|
|
|
|
NM_147127.5(EVC2):c.639C>G (p.Thr213=)
|
rs1323570343
|
|
|
NM_147127.5(EVC2):c.648C>T (p.Asp216=)
|
rs1720936758
|
|
|
NM_147127.5(EVC2):c.651T>A (p.Ser217=)
|
|
|
|
NM_147127.5(EVC2):c.651T>C (p.Ser217=)
|
|
|
|
NM_147127.5(EVC2):c.657A>G (p.Gly219=)
|
|
|
|
NM_147127.5(EVC2):c.660C>T (p.Asn220=)
|
|
|
|
NM_147127.5(EVC2):c.666C>T (p.Thr222=)
|
rs372079686
|
|
|
NM_147127.5(EVC2):c.669G>T (p.Ser223=)
|
|
|
|
NM_147127.5(EVC2):c.684T>G (p.Ala228=)
|
rs2151731613
|
|
|
NM_147127.5(EVC2):c.696G>A (p.Lys232=)
|
|
|
|
NM_147127.5(EVC2):c.6C>T (p.Asp2=)
|
rs939013967
|
|
|
NM_147127.5(EVC2):c.706+12G>A
|
|
|
|
NM_147127.5(EVC2):c.706+14G>A
|
|
|
|
NM_147127.5(EVC2):c.707-10C>G
|
|
|
|
NM_147127.5(EVC2):c.707-10C>T
|
|
|
|
NM_147127.5(EVC2):c.707-15C>G
|
|
|
|
NM_147127.5(EVC2):c.707-15C>T
|
|
|
|
NM_147127.5(EVC2):c.707-17T>G
|
|
|
|
NM_147127.5(EVC2):c.707-20A>G
|
|
|
|
NM_147127.5(EVC2):c.707-20A>T
|
|
|
|
NM_147127.5(EVC2):c.707-4G>T
|
rs113806963
|
|
|
NM_147127.5(EVC2):c.707-6G>A
|
rs2151728173
|
|
|
NM_147127.5(EVC2):c.707-7T>G
|
|
|
|
NM_147127.5(EVC2):c.714T>C (p.Asp238=)
|
rs977594999
|
|
|
NM_147127.5(EVC2):c.717C>A (p.Ala239=)
|
rs2151728147
|
|
|
NM_147127.5(EVC2):c.726C>T (p.Val242=)
|
|
|
|
NM_147127.5(EVC2):c.72G>C (p.Ala24=)
|
rs2151750115
|
|
|
NM_147127.5(EVC2):c.733G>T (p.Ala245Ser)
|
rs530937415
|
|
|
NM_147127.5(EVC2):c.735A>G (p.Ala245=)
|
rs2151728120
|
|
|
NM_147127.5(EVC2):c.744C>T (p.Leu248=)
|
|
|
|
NM_147127.5(EVC2):c.771G>A (p.Glu257=)
|
|
|
|
NM_147127.5(EVC2):c.777C>T (p.Leu259=)
|
rs754899418
|
|
|
NM_147127.5(EVC2):c.789C>A (p.Ala263=)
|
|
|
|
NM_147127.5(EVC2):c.789C>T (p.Ala263=)
|
rs2151728052
|
|
|
NM_147127.5(EVC2):c.810G>A (p.Ser270=)
|
rs761317948
|
|
|
NM_147127.5(EVC2):c.810G>T (p.Ser270=)
|
rs761317948
|
|
|
NM_147127.5(EVC2):c.816+13T>C
|
|
|
|
NM_147127.5(EVC2):c.816+14T>A
|
|
|
|
NM_147127.5(EVC2):c.816+19T>C
|
|
|
|
NM_147127.5(EVC2):c.816+8C>G
|
rs2151727996
|
|
|
NM_147127.5(EVC2):c.817-10C>A
|
rs750153523
|
|
|
NM_147127.5(EVC2):c.817-12T>C
|
|
|
|
NM_147127.5(EVC2):c.817-15T>G
|
|
|
|
NM_147127.5(EVC2):c.817-17C>T
|
|
|
|
NM_147127.5(EVC2):c.817-19T>C
|
|
|
|
NM_147127.5(EVC2):c.817-19_817-18del
|
|
|
|
NM_147127.5(EVC2):c.817-5T>A
|
|
|
|
NM_147127.5(EVC2):c.817-5T>C
|
rs2151724161
|
|
|
NM_147127.5(EVC2):c.817-6T>G
|
|
|
|
NM_147127.5(EVC2):c.81C>G (p.Gly27=)
|
|
|
|
NM_147127.5(EVC2):c.828G>A (p.Gln276=)
|
|
|
|
NM_147127.5(EVC2):c.829C>T (p.Leu277=)
|
rs2151724132
|
|
|
NM_147127.5(EVC2):c.831G>A (p.Leu277=)
|
rs376314429
|
|
|
NM_147127.5(EVC2):c.852A>C (p.Thr284=)
|
rs1444259253
|
|
|
NM_147127.5(EVC2):c.852A>G (p.Thr284=)
|
rs1444259253
|
|
|
NM_147127.5(EVC2):c.870+10A>G
|
rs779971622
|
|
|
NM_147127.5(EVC2):c.870+14C>G
|
|
|
|
NM_147127.5(EVC2):c.870+15A>G
|
|
|
|
NM_147127.5(EVC2):c.870+20C>G
|
|
|
|
NM_147127.5(EVC2):c.870+7G>A
|
|
|
|
NM_147127.5(EVC2):c.871-10G>A
|
|
|
|
NM_147127.5(EVC2):c.871-10G>T
|
rs1474138185
|
|
|
NM_147127.5(EVC2):c.871-19T>A
|
|
|
|
NM_147127.5(EVC2):c.871-4A>G
|
|
|
|
NM_147127.5(EVC2):c.871-6C>T
|
|
|
|
NM_147127.5(EVC2):c.871-9T>C
|
|
|
|
NM_147127.5(EVC2):c.879G>A (p.Pro293=)
|
|
|
|
NM_147127.5(EVC2):c.879G>T (p.Pro293=)
|
rs150699446
|
|
|
NM_147127.5(EVC2):c.87C>T (p.Gly29=)
|
rs2151750094
|
|
|
NM_147127.5(EVC2):c.891C>T (p.Leu297=)
|
|
|
|
NM_147127.5(EVC2):c.897A>C (p.Ala299=)
|
rs763124334
|
|
|
NM_147127.5(EVC2):c.897A>G (p.Ala299=)
|
|
|
|
NM_147127.5(EVC2):c.903G>A (p.Gly301=)
|
rs745889694
|
|
|
NM_147127.5(EVC2):c.903G>T (p.Gly301=)
|
rs745889694
|
|
|
NM_147127.5(EVC2):c.90T>C (p.Cys30=)
|
rs1722360264
|
|
|
NM_147127.5(EVC2):c.927C>G (p.Ser309=)
|
rs2108900060
|
|
|
NM_147127.5(EVC2):c.930T>G (p.Leu310=)
|
|
|
|
NM_147127.5(EVC2):c.939C>G (p.Thr313=)
|
|
|
|
NM_147127.5(EVC2):c.939C>T (p.Thr313=)
|
rs1322685892
|
|
|
NM_147127.5(EVC2):c.93C>G (p.Leu31=)
|
|
|
|
NM_147127.5(EVC2):c.951C>T (p.Leu317=)
|
|
|
|
NM_147127.5(EVC2):c.954C>T (p.Phe318=)
|
|
|
|
NM_147127.5(EVC2):c.957C>G (p.Leu319=)
|
|
|
|
NM_147127.5(EVC2):c.966C>T (p.Arg322=)
|
|
|
|
NM_147127.5(EVC2):c.96C>T (p.Gly32=)
|
rs1722358000
|
|
|
NM_147127.5(EVC2):c.981G>A (p.Lys327=)
|
rs2108899931
|
|
|
NM_147127.5(EVC2):c.984A>G (p.Gly328=)
|
|
|
|
NM_147127.5(EVC2):c.987C>T (p.Asn329=)
|
rs2108899904
|
|
|
NM_147127.5(EVC2):c.993C>T (p.Leu331=)
|
|
|
|
NM_147127.5(EVC2):c.996C>T (p.Thr332=)
|
|
|
|
NM_153717.3(EVC):c.1005C>T (p.Ser335=)
|
rs895165309
|
|
|
NM_153717.3(EVC):c.1008C>T (p.Ser336=)
|
|
|
|
NM_153717.3(EVC):c.1017C>T (p.Ala339=)
|
|
|
|
NM_153717.3(EVC):c.1018C>A (p.Arg340=)
|
rs121908425
|
|
|
NM_153717.3(EVC):c.1020A>G (p.Arg340=)
|
|
|
|
NM_153717.3(EVC):c.1026G>A (p.Leu342=)
|
|
|
|
NM_153717.3(EVC):c.102G>C (p.Leu34=)
|
|
|
|
NM_153717.3(EVC):c.1035T>C (p.Thr345=)
|
rs2152045460
|
|
|
NM_153717.3(EVC):c.1041G>A (p.Thr347=)
|
rs148418233
|
|
|
NM_153717.3(EVC):c.1041G>T (p.Thr347=)
|
rs148418233
|
|
|
NM_153717.3(EVC):c.1059C>A (p.Ala353=)
|
|
|
|
NM_153717.3(EVC):c.105C>T (p.Gly35=)
|
rs745558003
|
|
|
NM_153717.3(EVC):c.1089G>A (p.Leu363=)
|
|
|
|
NM_153717.3(EVC):c.1089G>C (p.Leu363=)
|
|
|
|
NM_153717.3(EVC):c.1098+12G>C
|
|
|
|
NM_153717.3(EVC):c.1098+13G>C
|
|
|
|
NM_153717.3(EVC):c.1098+16G>A
|
|
|
|
NM_153717.3(EVC):c.1098+16G>T
|
|
|
|
NM_153717.3(EVC):c.1098+17C>T
|
|
|
|
NM_153717.3(EVC):c.1098+18G>T
|
|
|
|
NM_153717.3(EVC):c.1098+20G>C
|
|
|
|
NM_153717.3(EVC):c.1098+20G>T
|
|
|
|
NM_153717.3(EVC):c.1098+8T>C
|
|
|
|
NM_153717.3(EVC):c.1099-10C>A
|
rs1465530933
|
|
|
NM_153717.3(EVC):c.1099-14G>A
|
|
|
|
NM_153717.3(EVC):c.1099-20C>T
|
|
|
|
NM_153717.3(EVC):c.1099-21_1099-19delinsGTC
|
rs2152075906
|
|
|
NM_153717.3(EVC):c.1099-21_1099-20delinsGT
|
|
|
|
NM_153717.3(EVC):c.1099-4G>A
|
rs2152076013
|
|
|
NM_153717.3(EVC):c.1099-5T>C
|
rs2152076005
|
|
|
NM_153717.3(EVC):c.1107G>T (p.Leu369=)
|
|
|
|
NM_153717.3(EVC):c.1113G>A (p.Arg371=)
|
|
|
|
NM_153717.3(EVC):c.1116G>A (p.Thr372=)
|
rs781636545
|
|
|
NM_153717.3(EVC):c.1143G>C (p.Val381=)
|
rs2152076257
|
|
|
NM_153717.3(EVC):c.1143G>T (p.Val381=)
|
|
|
|
NM_153717.3(EVC):c.114C>T (p.Leu38=)
|
rs1167442380
|
|
|
NM_153717.3(EVC):c.1159C>T (p.Leu387=)
|
rs1577439719
|
|
|
NM_153717.3(EVC):c.1161G>T (p.Leu387=)
|
|
|
|
NM_153717.3(EVC):c.1176G>A (p.Glu392=)
|
rs752626166
|
|
|
NM_153717.3(EVC):c.1179C>G (p.Thr393=)
|
|
|
|
NM_153717.3(EVC):c.117C>A (p.Gly39=)
|
|
|
|
NM_153717.3(EVC):c.1189C>T (p.Leu397=)
|
|
|
|
NM_153717.3(EVC):c.1197C>T (p.Ala399=)
|
rs2152076403
|
|
|
NM_153717.3(EVC):c.1200C>A (p.Ile400=)
|
rs750816331
|
|
|
NM_153717.3(EVC):c.1203C>T (p.Ser401=)
|
rs867155796
|
|
|
NM_153717.3(EVC):c.120C>A (p.Leu40=)
|
rs1407286365
|
|
|
NM_153717.3(EVC):c.120C>G (p.Leu40=)
|
|
|
|
NM_153717.3(EVC):c.120C>T (p.Leu40=)
|
|
|
|
NM_153717.3(EVC):c.1210C>T (p.Leu404=)
|
rs2152076460
|
|
|
NM_153717.3(EVC):c.1215G>A (p.Glu405=)
|
|
|
|
NM_153717.3(EVC):c.1218G>C (p.Leu406=)
|
rs2152076473
|
|
|
NM_153717.3(EVC):c.1218G>T (p.Leu406=)
|
rs2152076473
|
|
|
NM_153717.3(EVC):c.1230G>A (p.Glu410=)
|
|
|
|
NM_153717.3(EVC):c.1239G>C (p.Leu413=)
|
|
|
|
NM_153717.3(EVC):c.123C>A (p.Gly41=)
|
|
|
|
NM_153717.3(EVC):c.1246C>A (p.Arg416=)
|
rs113986714
|
|
|
NM_153717.3(EVC):c.1261C>T (p.Leu421=)
|
rs775388162
|
|
|
NM_153717.3(EVC):c.1266C>G (p.Leu422=)
|
rs2152076665
|
|
|
NM_153717.3(EVC):c.1266C>T (p.Leu422=)
|
rs2152076665
|
|
|
NM_153717.3(EVC):c.126C>G (p.Leu42=)
|
|
|
|
NM_153717.3(EVC):c.126C>T (p.Leu42=)
|
|
|
|
NM_153717.3(EVC):c.1287C>T (p.Phe429=)
|
rs2152076737
|
|
|
NM_153717.3(EVC):c.1304G>A (p.Arg435His)
|
|
|
|
NM_153717.3(EVC):c.1311C>T (p.Ser437=)
|
|
|
|
NM_153717.3(EVC):c.1312C>A (p.Arg438=)
|
|
|
|
NM_153717.3(EVC):c.1315+11G>C
|
|
|
|
NM_153717.3(EVC):c.1315+14A>G
|
|
|
|
NM_153717.3(EVC):c.1315+16_1315+27del
|
|
|
|
NM_153717.3(EVC):c.1315+8G>T
|
|
|
|
NM_153717.3(EVC):c.1316-14T>C
|
|
|
|
NM_153717.3(EVC):c.1316-20G>A
|
|
|
|
NM_153717.3(EVC):c.1316-20G>T
|
|
|
|
NM_153717.3(EVC):c.1316-4C>T
|
|
|
|
NM_153717.3(EVC):c.1327C>A (p.Arg443=)
|
|
|
|
NM_153717.3(EVC):c.1344C>T (p.Val448=)
|
rs2152081344
|
|
|
NM_153717.3(EVC):c.1347G>A (p.Thr449=)
|
|
|
|
NM_153717.3(EVC):c.1383A>G (p.Lys461=)
|
|
|
|
NM_153717.3(EVC):c.1398A>G (p.Gln466=)
|
|
|
|
NM_153717.3(EVC):c.1404G>A (p.Glu468=)
|
|
|
|
NM_153717.3(EVC):c.1407A>G (p.Glu469=)
|
rs755691949
|
|
|
NM_153717.3(EVC):c.1425T>C (p.Ala475=)
|
rs2152081868
|
|
|
NM_153717.3(EVC):c.1428G>A (p.Glu476=)
|
|
|
|
NM_153717.3(EVC):c.1434G>A (p.Gln478=)
|
|
|
|
NM_153717.3(EVC):c.1437G>A (p.Pro479=)
|
rs112861104
|
|
|
NM_153717.3(EVC):c.1437G>T (p.Pro479=)
|
rs112861104
|
|
|
NM_153717.3(EVC):c.1440T>C (p.Thr480=)
|
|
|
|
NM_153717.3(EVC):c.1449G>A (p.Pro483=)
|
|
|
|
NM_153717.3(EVC):c.1452A>G (p.Glu484=)
|
|
|
|
NM_153717.3(EVC):c.1464+12C>A
|
|
|
|
NM_153717.3(EVC):c.1464+12C>G
|
rs753296851
|
|
|
NM_153717.3(EVC):c.1464+19C>T
|
|
|
|
NM_153717.3(EVC):c.1464+7C>G
|
|
|
|
NM_153717.3(EVC):c.1464+8A>T
|
rs116236414
|
|
|
NM_153717.3(EVC):c.1465-12T>G
|
|
|
|
NM_153717.3(EVC):c.1465-13G>A
|
|
|
|
NM_153717.3(EVC):c.1465-15_1465-14del
|
|
|
|
NM_153717.3(EVC):c.1465-15_1465-14dup
|
|
|
|
NM_153717.3(EVC):c.1465-18C>T
|
|
|
|
NM_153717.3(EVC):c.1465-4A>G
|
|
|
|
NM_153717.3(EVC):c.1465-5C>A
|
|
|
|
NM_153717.3(EVC):c.1465-7C>T
|
|
|
|
NM_153717.3(EVC):c.1465-8C>T
|
|
|
|
NM_153717.3(EVC):c.1465-9T>C
|
|
|
|
NM_153717.3(EVC):c.1473T>C (p.His491=)
|
|
|
|
NM_153717.3(EVC):c.1479C>T (p.Val493=)
|
|
|
|
NM_153717.3(EVC):c.147C>A (p.Arg49=)
|
rs1723020172
|
|
|
NM_153717.3(EVC):c.1482G>C (p.Leu494=)
|
|
|
|
NM_153717.3(EVC):c.14G>T (p.Gly5Val)
|
|
|
|
NM_153717.3(EVC):c.150G>C (p.Ala50=)
|
rs1257185745
|
|
|
NM_153717.3(EVC):c.1512G>A (p.Leu504=)
|
|
|
|
NM_153717.3(EVC):c.1524G>A (p.Glu508=)
|
rs2152094941
|
|
|
NM_153717.3(EVC):c.1528G>A (p.Val510Ile)
|
rs143971158
|
|
|
NM_153717.3(EVC):c.1531A>C (p.Arg511=)
|
rs2152094988
|
|
|
NM_153717.3(EVC):c.1563+10C>T
|
rs2152095141
|
|
|
NM_153717.3(EVC):c.1563+13T>C
|
|
|
|
NM_153717.3(EVC):c.1563+14G>A
|
|
|
|
NM_153717.3(EVC):c.1563+15T>G
|
|
|
|
NM_153717.3(EVC):c.1563+16G>A
|
|
|
|
NM_153717.3(EVC):c.1563+7G>A
|
|
|
|
NM_153717.3(EVC):c.1564-10T>G
|
|
|
|
NM_153717.3(EVC):c.1564-15G>T
|
|
|
|
NM_153717.3(EVC):c.1564-19C>G
|
|
|
|
NM_153717.3(EVC):c.1564-7G>C
|
|
|
|
NM_153717.3(EVC):c.1564-7G>T
|
|
|
|
NM_153717.3(EVC):c.1564-9C>T
|
rs1361893356
|
|
|
NM_153717.3(EVC):c.1569G>C (p.Leu523=)
|
|
|
|
NM_153717.3(EVC):c.1572C>T (p.Tyr524=)
|
rs1735952327
|
|
|
NM_153717.3(EVC):c.1578C>T (p.Ser526=)
|
|
|
|
NM_153717.3(EVC):c.1593C>T (p.Phe531=)
|
rs771775185
|
|
|
NM_153717.3(EVC):c.1605G>A (p.Val535=)
|
|
|
|
NM_153717.3(EVC):c.1611C>T (p.Ala537=)
|
rs765193502
|
|
|
NM_153717.3(EVC):c.1612C>T (p.Leu538=)
|
|
|
|
NM_153717.3(EVC):c.1623G>A (p.Gln541=)
|
rs2152288778
|
|
|
NM_153717.3(EVC):c.1626G>A (p.Thr542=)
|
|
|
|
NM_153717.3(EVC):c.1629C>G (p.Leu543=)
|
rs1735963741
|
|
|
NM_153717.3(EVC):c.1635C>T (p.Gly545=)
|
rs781699320
|
|
|
NM_153717.3(EVC):c.1641T>C (p.Thr547=)
|
rs2152288859
|
|
|
NM_153717.3(EVC):c.1647C>A (p.Leu549=)
|
rs756674302
|
|
|
NM_153717.3(EVC):c.1647C>G (p.Leu549=)
|
|
|
|
NM_153717.3(EVC):c.1650C>A (p.Pro550=)
|
rs1187336928
|
|
|
NM_153717.3(EVC):c.1656A>G (p.Glu552=)
|
|
|
|
NM_153717.3(EVC):c.1662T>C (p.Cys554=)
|
rs2152288989
|
|
|
NM_153717.3(EVC):c.1665C>T (p.Asp555=)
|
|
|
|
NM_153717.3(EVC):c.1677G>A (p.Gln559=)
|
|
|
|
NM_153717.3(EVC):c.1683C>A (p.Val561=)
|
|
|
|
NM_153717.3(EVC):c.1683C>G (p.Val561=)
|
rs913909906
|
|
|
NM_153717.3(EVC):c.1689G>A (p.Glu563=)
|
|
|
|
NM_153717.3(EVC):c.1696G>A (p.Ala566Thr)
|
rs144943762
|
|
|
NM_153717.3(EVC):c.1698C>G (p.Ala566=)
|
rs911132556
|
|
|
NM_153717.3(EVC):c.1725C>T (p.Phe575=)
|
|
|
|
NM_153717.3(EVC):c.1737G>A (p.Gln579=)
|
rs768788576
|
|
|
NM_153717.3(EVC):c.174+11C>G
|
|
|
|
NM_153717.3(EVC):c.174+12G>A
|
|
|
|
NM_153717.3(EVC):c.174+14G>A
|
|
|
|
NM_153717.3(EVC):c.174+16_174+30del
|
|
|
|
NM_153717.3(EVC):c.174+7C>G
|
|
|
|
NM_153717.3(EVC):c.174+7C>T
|
rs1577297959
|
|
|
NM_153717.3(EVC):c.174+8G>C
|
|
|
|
NM_153717.3(EVC):c.1743A>G (p.Lys581=)
|
|
|
|
NM_153717.3(EVC):c.1746C>A (p.Leu582=)
|
rs1029833383
|
|
|
NM_153717.3(EVC):c.175-19C>G
|
|
|
|
NM_153717.3(EVC):c.175-19C>T
|
|
|
|
NM_153717.3(EVC):c.175-20T>C
|
|
|
|
NM_153717.3(EVC):c.175-9G>C
|
rs753317536
|
|
|
NM_153717.3(EVC):c.1761A>C (p.Leu587=)
|
|
|
|
NM_153717.3(EVC):c.1776+7G>A
|
rs750719632
|
|
|
NM_153717.3(EVC):c.1776+7del
|
rs540001390
|
|
|
NM_153717.3(EVC):c.1776+8C>G
|
rs761163369
|
|
|
NM_153717.3(EVC):c.1776+8C>T
|
|
|
|
NM_153717.3(EVC):c.1776+9A>G
|
rs2152289531
|
|
|
NM_153717.3(EVC):c.1777-13G>C
|
|
|
|
NM_153717.3(EVC):c.1777-15C>G
|
|
|
|
NM_153717.3(EVC):c.1777-17C>G
|
|
|
|
NM_153717.3(EVC):c.1777-19C>T
|
|
|
|
NM_153717.3(EVC):c.1777-9C>G
|
|
|
|
NM_153717.3(EVC):c.1777-9C>T
|
rs113468936
|
|
|
NM_153717.3(EVC):c.1779G>A (p.Val593=)
|
|
|
|
NM_153717.3(EVC):c.1788G>A (p.Glu596=)
|
rs2152326451
|
|
|
NM_153717.3(EVC):c.1791G>A (p.Glu597=)
|
rs1577599969
|
|
|
NM_153717.3(EVC):c.1800G>C (p.Leu600=)
|
rs1713204688
|
|
|
NM_153717.3(EVC):c.1800G>T (p.Leu600=)
|
|
|
|
NM_153717.3(EVC):c.1803C>T (p.Ser601=)
|
rs2152326514
|
|
|
NM_153717.3(EVC):c.1812G>A (p.Leu604=)
|
|
|
|
NM_153717.3(EVC):c.1821C>T (p.His607=)
|
rs779056864
|
|
|
NM_153717.3(EVC):c.1825C>A (p.Arg609=)
|
|
|
|
NM_153717.3(EVC):c.1827G>A (p.Arg609=)
|
|
|
|
NM_153717.3(EVC):c.1830G>A (p.Glu610=)
|
|
|
|
NM_153717.3(EVC):c.1851C>A (p.Arg617=)
|
|
|
|
NM_153717.3(EVC):c.1851C>T (p.Arg617=)
|
rs967986192
|
|
|
NM_153717.3(EVC):c.1854C>A (p.Gly618=)
|
rs11737221
|
|
|
NM_153717.3(EVC):c.1857C>G (p.Val619=)
|
rs2152326683
|
|
|
NM_153717.3(EVC):c.1857C>T (p.Val619=)
|
rs2152326683
|
|
|
NM_153717.3(EVC):c.1886+11C>T
|
|
|
|
NM_153717.3(EVC):c.1886+13C>T
|
|
|
|
NM_153717.3(EVC):c.1886+16T>C
|
|
|
|
NM_153717.3(EVC):c.1886+17G>C
|
|
|
|
NM_153717.3(EVC):c.1886+7A>G
|
rs2152326793
|
|
|
NM_153717.3(EVC):c.1887-19T>G
|
|
|
|
NM_153717.3(EVC):c.1887-4A>C
|
rs2152340153
|
|
|
NM_153717.3(EVC):c.1887-5C>T
|
|
|
|
NM_153717.3(EVC):c.1890C>T (p.Ser630=)
|
rs2152340181
|
|
|
NM_153717.3(EVC):c.1893G>A (p.Thr631=)
|
rs1017858503
|
|
|
NM_153717.3(EVC):c.1893G>T (p.Thr631=)
|
rs1017858503
|
|
|
NM_153717.3(EVC):c.1896G>C (p.Arg632=)
|
rs758327867
|
|
|
NM_153717.3(EVC):c.1905G>T (p.Leu635=)
|
rs777640312
|
|
|
NM_153717.3(EVC):c.1917C>T (p.Asp639=)
|
rs1242667817
|
|
|
NM_153717.3(EVC):c.1923G>A (p.Leu641=)
|
|
|
|
NM_153717.3(EVC):c.1926G>A (p.Leu642=)
|
rs1191617444
|
|
|
NM_153717.3(EVC):c.1935C>T (p.Ala645=)
|
rs1412137397
|
|
|
NM_153717.3(EVC):c.1938C>T (p.Leu646=)
|
|
|
|
NM_153717.3(EVC):c.1939C>A (p.Arg647=)
|
|
|
|
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln)
|
rs35401386
|
|
|
NM_153717.3(EVC):c.1941G>A (p.Arg647=)
|
|
|
|
NM_153717.3(EVC):c.1944G>A (p.Arg648=)
|
rs1577616662
|
|
|
NM_153717.3(EVC):c.195G>T (p.Leu65=)
|
|
|
|
NM_153717.3(EVC):c.1965C>A (p.Ala655=)
|
rs757251724
|
|
|
NM_153717.3(EVC):c.1966C>T (p.Leu656=)
|
rs2152340488
|
|
|
NM_153717.3(EVC):c.1968G>A (p.Leu656=)
|
|
|
|
NM_153717.3(EVC):c.1971C>T (p.Ala657=)
|
rs2152340517
|
|
|
NM_153717.3(EVC):c.1983G>A (p.Gln661=)
|
|
|
|
NM_153717.3(EVC):c.198C>T (p.Leu66=)
|
|
|
|
NM_153717.3(EVC):c.1995G>T (p.Ser665=)
|
rs142897994
|
|
|
NM_153717.3(EVC):c.1998G>A (p.Gly666=)
|
rs772759204
|
|
|
NM_153717.3(EVC):c.2004G>A (p.Lys668=)
|
rs759187395
|
|
|
NM_153717.3(EVC):c.2013G>A (p.Leu671=)
|
|
|
|
NM_153717.3(EVC):c.2019G>A (p.Glu673=)
|
|
|
|
NM_153717.3(EVC):c.2023C>A (p.Arg675=)
|
rs372267517
|
|
|
NM_153717.3(EVC):c.2025G>T (p.Arg675=)
|
rs1714120141
|
|
|
NM_153717.3(EVC):c.2043G>A (p.Glu681=)
|
|
|
|
NM_153717.3(EVC):c.2055C>T (p.Ser685=)
|
|
|
|
NM_153717.3(EVC):c.205T>C (p.Leu69=)
|
|
|
|
NM_153717.3(EVC):c.2067C>T (p.Asp689=)
|
rs768403488
|
|
|
NM_153717.3(EVC):c.2076G>A (p.Gln692=)
|
rs1714131544
|
|
|
NM_153717.3(EVC):c.207G>A (p.Leu69=)
|
rs2151841946
|
|
|
NM_153717.3(EVC):c.2085G>C (p.Leu695=)
|
|
|
|
NM_153717.3(EVC):c.2094C>A (p.Ala698=)
|
|
|
|
NM_153717.3(EVC):c.2094C>G (p.Ala698=)
|
|
|
|
NM_153717.3(EVC):c.2094C>T (p.Ala698=)
|
|
|
|
NM_153717.3(EVC):c.2097+10G>T
|
|
|
|
NM_153717.3(EVC):c.2097+12A>G
|
rs112766640
|
|
|
NM_153717.3(EVC):c.2098-13C>G
|
|
|
|
NM_153717.3(EVC):c.2098-20C>T
|
|
|
|
NM_153717.3(EVC):c.2098-5C>G
|
rs747808287
|
|
|
NM_153717.3(EVC):c.2098-7C>G
|
rs1448028337
|
|
|
NM_153717.3(EVC):c.2098-8C>T
|
rs1560427583
|
|
|
NM_153717.3(EVC):c.2110C>T (p.Leu704=)
|
rs1714403171
|
|
|
NM_153717.3(EVC):c.2112G>A (p.Leu704=)
|
|
|
|
NM_153717.3(EVC):c.2115G>A (p.Glu705=)
|
|
|
|
NM_153717.3(EVC):c.2118G>A (p.Glu706=)
|
|
|
|
NM_153717.3(EVC):c.2127G>A (p.Arg709=)
|
|
|
|
NM_153717.3(EVC):c.213T>C (p.Ser71=)
|
|
|
|
NM_153717.3(EVC):c.2152C>A (p.Arg718=)
|
rs778287269
|
|
|
NM_153717.3(EVC):c.2154G>A (p.Arg718=)
|
rs1714415040
|
|
|
NM_153717.3(EVC):c.2154G>T (p.Arg718=)
|
|
|
|
NM_153717.3(EVC):c.2155C>T (p.Leu719=)
|
rs1236823435
|
|
|
NM_153717.3(EVC):c.2157G>A (p.Leu719=)
|
rs1024015517
|
|
|
NM_153717.3(EVC):c.2187C>A (p.Ala729=)
|
|
|
|
NM_153717.3(EVC):c.2196G>A (p.Val732=)
|
|
|
|
NM_153717.3(EVC):c.2199G>A (p.Gly733=)
|
|
|
|
NM_153717.3(EVC):c.2199G>C (p.Gly733=)
|
|
|
|
NM_153717.3(EVC):c.219G>T (p.Ala73=)
|
|
|
|
NM_153717.3(EVC):c.21C>G (p.Ala7=)
|
|
|
|
NM_153717.3(EVC):c.2208G>A (p.Leu736=)
|
rs2152345788
|
|
|
NM_153717.3(EVC):c.2217C>T (p.His739=)
|
rs2152345808
|
|
|
NM_153717.3(EVC):c.221_222delinsCA (p.Gln74Pro)
|
|
|
|
NM_153717.3(EVC):c.222G>A (p.Gln74=)
|
|
|
|
NM_153717.3(EVC):c.2238G>A (p.Gln746=)
|
|
|
|
NM_153717.3(EVC):c.2247G>A (p.Leu749=)
|
|
|
|
NM_153717.3(EVC):c.2256A>G (p.Ala752=)
|
rs746682279
|
|
|
NM_153717.3(EVC):c.2258G>A (p.Arg753Gln)
|
|
|
|
NM_153717.3(EVC):c.225C>A (p.Thr75=)
|
|
|
|
NM_153717.3(EVC):c.225C>G (p.Thr75=)
|
|
|
|
NM_153717.3(EVC):c.2262T>C (p.Asn754=)
|
rs1714441484
|
|
|
NM_153717.3(EVC):c.2265A>C (p.Ala755=)
|
|
|
|
NM_153717.3(EVC):c.2271C>A (p.Thr757=)
|
rs918804667
|
|
|
NM_153717.3(EVC):c.2274G>A (p.Lys758=)
|
rs199611644
|
|
|
NM_153717.3(EVC):c.2289C>T (p.Asp763=)
|
rs2152346031
|
|
|
NM_153717.3(EVC):c.228C>G (p.Pro76=)
|
|
|
|
NM_153717.3(EVC):c.2295T>C (p.Asp765=)
|
rs2152346059
|
|
|
NM_153717.3(EVC):c.2304+10G>C
|
|
|
|
NM_153717.3(EVC):c.2304+10G>T
|
|
|
|
NM_153717.3(EVC):c.2304+15_2304+16del
|
|
|
|
NM_153717.3(EVC):c.2304+19C>T
|
|
|
|
NM_153717.3(EVC):c.2304+8C>G
|
|
|
|
NM_153717.3(EVC):c.2304+9T>A
|
rs2152346132
|
|
|
NM_153717.3(EVC):c.2305-13T>C
|
|
|
|
NM_153717.3(EVC):c.2305-15C>T
|
|
|
|
NM_153717.3(EVC):c.2305-17T>C
|
|
|
|
NM_153717.3(EVC):c.2305-19C>A
|
|
|
|
NM_153717.3(EVC):c.2305-19C>T
|
|
|
|
NM_153717.3(EVC):c.2305-8_2305-7delinsCT
|
rs2152361700
|
|
|
NM_153717.3(EVC):c.2307G>A (p.Arg769=)
|
|
|
|
NM_153717.3(EVC):c.2310A>T (p.Thr770=)
|
|
|
|
NM_153717.3(EVC):c.2311C>T (p.Leu771=)
|
rs763546632
|
|
|
NM_153717.3(EVC):c.2319G>A (p.Glu773=)
|
|
|
|
NM_153717.3(EVC):c.2322G>A (p.Ala774=)
|
rs150373930
|
|
|
NM_153717.3(EVC):c.2328G>C (p.Val776=)
|
rs913233513
|
|
|
NM_153717.3(EVC):c.2335G>A (p.Val779Ile)
|
rs376396220
|
|
|
NM_153717.3(EVC):c.2340C>T (p.Tyr780=)
|
|
|
|
NM_153717.3(EVC):c.2346C>T (p.Thr782=)
|
|
|
|
NM_153717.3(EVC):c.2361C>T (p.Ser787=)
|
rs1412709981
|
|
|
NM_153717.3(EVC):c.2367G>A (p.Leu789=)
|
|
|
|
NM_153717.3(EVC):c.2370G>A (p.Val790=)
|
|
|
|
NM_153717.3(EVC):c.2376G>C (p.Ala792=)
|
rs1005244629
|
|
|
NM_153717.3(EVC):c.2388A>G (p.Gln796=)
|
|
|
|
NM_153717.3(EVC):c.2391C>T (p.Ile797=)
|
rs202236029
|
|
|
NM_153717.3(EVC):c.2409C>T (p.Asp803=)
|
|
|
|
NM_153717.3(EVC):c.2434C>T (p.Leu812=)
|
rs1161329338
|
|
|
NM_153717.3(EVC):c.243C>G (p.Ser81=)
|
|
|
|
NM_153717.3(EVC):c.2442C>T (p.Thr814=)
|
|
|
|
NM_153717.3(EVC):c.2445G>A (p.Leu815=)
|
|
|
|
NM_153717.3(EVC):c.2449+10C>A
|
rs758387379
|
|
|
NM_153717.3(EVC):c.2449+10C>G
|
|
|
|
NM_153717.3(EVC):c.2449+10C>T
|
rs758387379
|
|
|
NM_153717.3(EVC):c.2449+13C>G
|
|
|
|
NM_153717.3(EVC):c.2449+13C>T
|
|
|
|
NM_153717.3(EVC):c.2449+14C>A
|
rs374386522
|
|
|
NM_153717.3(EVC):c.2449+14C>G
|
rs374386522
|
|
|
NM_153717.3(EVC):c.2449+14C>T
|
rs374386522
|
|
|
NM_153717.3(EVC):c.2449+15C>G
|
|
|
|
NM_153717.3(EVC):c.2449+15_2449+16insA
|
|
|
|
NM_153717.3(EVC):c.2449+9C>A
|
|
|
|
NM_153717.3(EVC):c.2450-16G>A
|
|
|
|
NM_153717.3(EVC):c.2450-18C>T
|
|
|
|
NM_153717.3(EVC):c.2450-4C>T
|
rs1273594861
|
|
|
NM_153717.3(EVC):c.2450-7_2450-5dup
|
rs2152375058
|
|
|
NM_153717.3(EVC):c.2450-8T>C
|
rs1715583083
|
|
|
NM_153717.3(EVC):c.2454G>A (p.Glu818=)
|
rs775144960
|
|
|
NM_153717.3(EVC):c.2463A>G (p.Glu821=)
|
rs762865760
|
|
|
NM_153717.3(EVC):c.2484G>A (p.Lys828=)
|
rs2152375180
|
|
|
NM_153717.3(EVC):c.2487A>G (p.Gln829=)
|
rs1439220731
|
|
|
NM_153717.3(EVC):c.2499C>T (p.Asn833=)
|
rs2152375210
|
|
|
NM_153717.3(EVC):c.24C>T (p.Cys8=)
|
|
|
|
NM_153717.3(EVC):c.2508G>A (p.Ser836=)
|
|
|
|
NM_153717.3(EVC):c.2514C>T (p.Ser838=)
|
|
|
|
NM_153717.3(EVC):c.2520G>C (p.Thr840=)
|
rs187406722
|
|
|
NM_153717.3(EVC):c.2523A>C (p.Ala841=)
|
|
|
|
NM_153717.3(EVC):c.2547G>A (p.Gln849=)
|
rs2152375378
|
|
|
NM_153717.3(EVC):c.2550G>T (p.Ala850=)
|
rs754053651
|
|
|
NM_153717.3(EVC):c.2553C>T (p.Val851=)
|
rs2152375406
|
|
|
NM_153717.3(EVC):c.2556C>T (p.His852=)
|
|
|
|
NM_153717.3(EVC):c.2561+10C>A
|
|
|
|
NM_153717.3(EVC):c.2561+11A>C
|
|
|
|
NM_153717.3(EVC):c.2561+12A>C
|
|
|
|
NM_153717.3(EVC):c.2561+12_2561+23dup
|
rs1199616057
|
|
|
NM_153717.3(EVC):c.2561+13C>A
|
|
|
|
NM_153717.3(EVC):c.2561+18G>A
|
|
|
|
NM_153717.3(EVC):c.2561+8C>T
|
|
|
|
NM_153717.3(EVC):c.2562-13_2562-12delinsCC
|
rs2152387572
|
|
|
NM_153717.3(EVC):c.2562-18del
|
|
|
|
NM_153717.3(EVC):c.2562-19C>G
|
|
|
|
NM_153717.3(EVC):c.2562-20G>T
|
|
|
|
NM_153717.3(EVC):c.2562-4C>A
|
rs60082311
|
|
|
NM_153717.3(EVC):c.2562-4C>T
|
rs60082311
|
|
|
NM_153717.3(EVC):c.2562-5C>A
|
rs747812027
|
|
|
NM_153717.3(EVC):c.2562-6C>T
|
rs1480753304
|
|
|
NM_153717.3(EVC):c.2566C>T (p.Leu856=)
|
|
|
|
NM_153717.3(EVC):c.2577G>A (p.Gln859=)
|
|
|
|
NM_153717.3(EVC):c.2580G>A (p.Lys860=)
|
rs1264987350
|
|
|
NM_153717.3(EVC):c.2592C>G (p.Ala864=)
|
rs2152387719
|
|
|
NM_153717.3(EVC):c.2601A>C (p.Pro867=)
|
|
|
|
NM_153717.3(EVC):c.2607C>T (p.His869=)
|
rs774624157
|
|
|
NM_153717.3(EVC):c.2610G>A (p.Gln870=)
|
rs2152387774
|
|
|
NM_153717.3(EVC):c.2613G>A (p.Gln871=)
|
|
|
|
NM_153717.3(EVC):c.2619T>A (p.Arg873=)
|
rs1716320466
|
|
|
NM_153717.3(EVC):c.2620C>T (p.Leu874=)
|
|
|
|
NM_153717.3(EVC):c.2622G>T (p.Leu874=)
|
rs1399378301
|
|
|
NM_153717.3(EVC):c.2631G>A (p.Gln877=)
|
|
|
|
NM_153717.3(EVC):c.2637G>A (p.Gln879=)
|
|
|
|
NM_153717.3(EVC):c.2643A>C (p.Ala881=)
|
|
|
|
NM_153717.3(EVC):c.2643A>G (p.Ala881=)
|
|
|
|
NM_153717.3(EVC):c.264A>G (p.Arg88=)
|
rs1176423250
|
|
|
NM_153717.3(EVC):c.2664A>G (p.Glu888=)
|
rs1161036004
|
|
|
NM_153717.3(EVC):c.2676G>A (p.Glu892=)
|
rs761201243
|
|
|
NM_153717.3(EVC):c.2685A>G (p.Leu895=)
|
rs2152387981
|
|
|
NM_153717.3(EVC):c.2688+11C>A
|
|
|
|
NM_153717.3(EVC):c.2688+11C>T
|
|
|
|
NM_153717.3(EVC):c.2688+19G>A
|
|
|
|
NM_153717.3(EVC):c.2688+8_2688+13del
|
rs2152388021
|
|
|
NM_153717.3(EVC):c.2689-11_2689-8del
|
|
|
|
NM_153717.3(EVC):c.2689-16T>C
|
|
|
|
NM_153717.3(EVC):c.2689-19C>T
|
|
|
|
NM_153717.3(EVC):c.2689-20C>A
|
|
|
|
NM_153717.3(EVC):c.2709C>A (p.Ile903=)
|
rs774968451
|
|
|
NM_153717.3(EVC):c.2709C>T (p.Ile903=)
|
rs774968451
|
|
|
NM_153717.3(EVC):c.270G>A (p.Val90=)
|
|
|
|
NM_153717.3(EVC):c.2733A>C (p.Arg911=)
|
rs1478690927
|
|
|
NM_153717.3(EVC):c.2733A>G (p.Arg911=)
|
|
|
|
NM_153717.3(EVC):c.2739C>A (p.Pro913=)
|
|
|
|
NM_153717.3(EVC):c.2739C>G (p.Pro913=)
|
rs907113908
|
|
|
NM_153717.3(EVC):c.2739C>T (p.Pro913=)
|
rs907113908
|
|
|
NM_153717.3(EVC):c.2757G>T (p.Leu919=)
|
rs1219650896
|
|
|
NM_153717.3(EVC):c.2763T>C (p.Pro921=)
|
|
|
|
NM_153717.3(EVC):c.2775G>A (p.Gly925=)
|
|
|
|
NM_153717.3(EVC):c.2775G>C (p.Gly925=)
|
|
|
|
NM_153717.3(EVC):c.2782+12A>G
|
|
|
|
NM_153717.3(EVC):c.2782+13T>A
|
rs2152392158
|
|
|
NM_153717.3(EVC):c.2782+15C>T
|
|
|
|
NM_153717.3(EVC):c.2782+15_2782+18dup
|
|
|
|
NM_153717.3(EVC):c.2782+19A>T
|
|
|
|
NM_153717.3(EVC):c.2782+7C>A
|
rs1241416600
|
|
|
NM_153717.3(EVC):c.2782+8A>G
|
rs760124824
|
|
|
NM_153717.3(EVC):c.2783-11G>A
|
|
|
|
NM_153717.3(EVC):c.2783-11del
|
|
|
|
NM_153717.3(EVC):c.2783-4A>G
|
|
|
|
NM_153717.3(EVC):c.2790C>A (p.Pro930=)
|
|
|
|
NM_153717.3(EVC):c.2793A>C (p.Leu931=)
|
|
|
|
NM_153717.3(EVC):c.2793A>G (p.Leu931=)
|
|
|
|
NM_153717.3(EVC):c.2796G>A (p.Arg932=)
|
|
|
|
NM_153717.3(EVC):c.2799T>G (p.Thr933=)
|
|
|
|
NM_153717.3(EVC):c.279G>C (p.Ser93=)
|
|
|
|
NM_153717.3(EVC):c.27G>A (p.Lys9=)
|
|
|
|
NM_153717.3(EVC):c.2814C>G (p.Pro938=)
|
|
|
|
NM_153717.3(EVC):c.2817G>T (p.Leu939=)
|
rs1716697966
|
|
|
NM_153717.3(EVC):c.2820C>G (p.Pro940=)
|
|
|
|
NM_153717.3(EVC):c.2835C>T (p.Asp945=)
|
rs2152394497
|
|
|
NM_153717.3(EVC):c.2838G>A (p.Leu946=)
|
|
|
|
NM_153717.3(EVC):c.2838G>C (p.Leu946=)
|
|
|
|
NM_153717.3(EVC):c.2844G>T (p.Val948=)
|
|
|
|
NM_153717.3(EVC):c.2853T>C (p.Asn951=)
|
rs371561252
|
|
|
NM_153717.3(EVC):c.2859C>T (p.Asp953=)
|
|
|
|
NM_153717.3(EVC):c.2862T>A (p.Leu954=)
|
rs2152394578
|
|
|
NM_153717.3(EVC):c.2865C>T (p.Ala955=)
|
rs1333691963
|
|
|
NM_153717.3(EVC):c.2883A>G (p.Ser961=)
|
rs1248488328
|
|
|
NM_153717.3(EVC):c.2889A>G (p.Ser963=)
|
rs2152394684
|
|
|
NM_153717.3(EVC):c.288G>A (p.Lys96=)
|
rs1577324357
|
|
|
NM_153717.3(EVC):c.2892C>A (p.Leu964=)
|
|
|
|
NM_153717.3(EVC):c.2894+11G>T
|
|
|
|
NM_153717.3(EVC):c.2894+12C>T
|
|
|
|
NM_153717.3(EVC):c.2894+14C>T
|
|
|
|
NM_153717.3(EVC):c.2894+15C>T
|
|
|
|
NM_153717.3(EVC):c.2894+16G>A
|
|
|
|
NM_153717.3(EVC):c.2894+18A>T
|
|
|
|
NM_153717.3(EVC):c.2894+7C>G
|
rs2152394737
|
|
|
NM_153717.3(EVC):c.2894+8T>C
|
|
|
|
NM_153717.3(EVC):c.2895-12C>G
|
|
|
|
NM_153717.3(EVC):c.2895-12_2895-10del
|
|
|
|
NM_153717.3(EVC):c.2895-16del
|
rs761097524
|
|
|
NM_153717.3(EVC):c.2895-20C>A
|
|
|
|
NM_153717.3(EVC):c.2895-20C>T
|
|
|
|
NM_153717.3(EVC):c.2895-8_2895-4del
|
|
|
|
NM_153717.3(EVC):c.2898C>T (p.Ser966=)
|
rs1716824868
|
|
|
NM_153717.3(EVC):c.2913G>A (p.Gln971=)
|
rs370649784
|
|
|
NM_153717.3(EVC):c.2916A>G (p.Gln972=)
|
rs1285231247
|
|
|
NM_153717.3(EVC):c.2922T>C (p.Ser974=)
|
rs2152396440
|
|
|
NM_153717.3(EVC):c.2925A>G (p.Glu975=)
|
rs1399872123
|
|
|
NM_153717.3(EVC):c.2928T>A (p.Ala976=)
|
|
|
|
NM_153717.3(EVC):c.2931G>T (p.Gly977=)
|
|
|
|
NM_153717.3(EVC):c.2934C>T (p.Asp978=)
|
rs1241792860
|
|
|
NM_153717.3(EVC):c.2946A>G (p.Ser982=)
|
rs1388651029
|
|
|
NM_153717.3(EVC):c.2973C>T (p.Asn991=)
|
|
|
|
NM_153717.3(EVC):c.2976G>A (p.Leu992=)
|
rs1577673719
|
|
|
NM_153717.3(EVC):c.2979G>A (p.Ter993=)
|
rs767957964
|
|
|
NM_153717.3(EVC):c.297T>G (p.Val99=)
|
|
|
|
NM_153717.3(EVC):c.300+14T>G
|
|
|
|
NM_153717.3(EVC):c.300+17T>G
|
|
|
|
NM_153717.3(EVC):c.300+19T>C
|
|
|
|
NM_153717.3(EVC):c.300+20T>C
|
|
|
|
NM_153717.3(EVC):c.300+24_300+27del
|
|
|
|
NM_153717.3(EVC):c.300+7T>A
|
|
|
|
NM_153717.3(EVC):c.301-10dup
|
|
|
|
NM_153717.3(EVC):c.301-13C>G
|
|
|
|
NM_153717.3(EVC):c.301-7C>T
|
rs764925850
|
|
|
NM_153717.3(EVC):c.301-9C>G
|
rs1726395310
|
|
|
NM_153717.3(EVC):c.312G>T (p.Pro104=)
|
|
|
|
NM_153717.3(EVC):c.31G>A (p.Asp11Asn)
|
|
|
|
NM_153717.3(EVC):c.333A>G (p.Thr111=)
|
|
|
|
NM_153717.3(EVC):c.333A>T (p.Thr111=)
|
|
|
|
NM_153717.3(EVC):c.354A>G (p.Lys118=)
|
rs2151919308
|
|
|
NM_153717.3(EVC):c.360C>A (p.Ile120=)
|
rs2151919327
|
|
|
NM_153717.3(EVC):c.37C>T (p.Arg13Trp)
|
|
|
|
NM_153717.3(EVC):c.384+10_384+12dup
|
rs2151919610
|
|
|
NM_153717.3(EVC):c.384+10del
|
|
|
|
NM_153717.3(EVC):c.384+12G>C
|
rs1192867917
|
|
|
NM_153717.3(EVC):c.384+15C>G
|
|
|
|
NM_153717.3(EVC):c.385-13A>G
|
|
|
|
NM_153717.3(EVC):c.385-20G>A
|
|
|
|
NM_153717.3(EVC):c.385-20G>T
|
|
|
|
NM_153717.3(EVC):c.385-6C>T
|
rs1167563102
|
|
|
NM_153717.3(EVC):c.385-7A>T
|
|
|
|
NM_153717.3(EVC):c.390G>T (p.Leu130=)
|
rs2151934901
|
|
|
NM_153717.3(EVC):c.393C>G (p.Ala131=)
|
|
|
|
NM_153717.3(EVC):c.393C>T (p.Ala131=)
|
rs374197757
|
|
|
NM_153717.3(EVC):c.399C>T (p.Gly133=)
|
|
|
|
NM_153717.3(EVC):c.39G>A (p.Arg13=)
|
rs1479357518
|
|
|
NM_153717.3(EVC):c.402C>T (p.Ser134=)
|
|
|
|
NM_153717.3(EVC):c.405C>T (p.Ser135=)
|
rs2151934982
|
|
|
NM_153717.3(EVC):c.411G>T (p.Pro137=)
|
|
|
|
NM_153717.3(EVC):c.414T>C (p.Ser138=)
|
|
|
|
NM_153717.3(EVC):c.417G>T (p.Leu139=)
|
|
|
|
NM_153717.3(EVC):c.42G>A (p.Leu14=)
|
rs1213156946
|
|
|
NM_153717.3(EVC):c.435G>A (p.Gln145=)
|
|
|
|
NM_153717.3(EVC):c.438T>C (p.Ala146=)
|
|
|
|
NM_153717.3(EVC):c.438T>G (p.Ala146=)
|
rs200690823
|
|
|
NM_153717.3(EVC):c.441T>G (p.Val147=)
|
rs1192506036
|
|
|
NM_153717.3(EVC):c.456G>C (p.Pro152=)
|
|
|
|
NM_153717.3(EVC):c.456G>T (p.Pro152=)
|
|
|
|
NM_153717.3(EVC):c.459A>G (p.Val153=)
|
|
|
|
NM_153717.3(EVC):c.462G>A (p.Glu154=)
|
rs1019139111
|
|
|
NM_153717.3(EVC):c.465C>G (p.Ala155=)
|
rs146706283
|
|
|
NM_153717.3(EVC):c.477C>T (p.Ser159=)
|
rs2151935441
|
|
|
NM_153717.3(EVC):c.480T>C (p.Ser160=)
|
rs2151935461
|
|
|
NM_153717.3(EVC):c.489C>T (p.Ser163=)
|
|
|
|
NM_153717.3(EVC):c.48G>A (p.Leu16=)
|
|
|
|
NM_153717.3(EVC):c.492G>A (p.Leu164=)
|
|
|
|
NM_153717.3(EVC):c.507G>A (p.Lys169=)
|
|
|
|
NM_153717.3(EVC):c.528C>G (p.Ser176=)
|
|
|
|
NM_153717.3(EVC):c.528C>T (p.Ser176=)
|
rs532386294
|
|
|
NM_153717.3(EVC):c.531C>T (p.Ser177=)
|
rs542910336
|
|
|
NM_153717.3(EVC):c.537C>T (p.His179=)
|
|
|
|
NM_153717.3(EVC):c.540G>T (p.Ser180=)
|
|
|
|
NM_153717.3(EVC):c.54G>C (p.Arg18=)
|
rs1050002700
|
|
|
NM_153717.3(EVC):c.54G>T (p.Arg18=)
|
rs1050002700
|
|
|
NM_153717.3(EVC):c.564C>G (p.Leu188=)
|
|
|
|
NM_153717.3(EVC):c.573C>G (p.Thr191=)
|
|
|
|
NM_153717.3(EVC):c.579C>T (p.Leu193=)
|
|
|
|
NM_153717.3(EVC):c.589G>T (p.Ala197Ser)
|
rs115507440
|
|
|
NM_153717.3(EVC):c.594C>T (p.Phe198=)
|
rs1224007808
|
|
|
NM_153717.3(EVC):c.597T>C (p.Pro199=)
|
|
|
|
NM_153717.3(EVC):c.603G>A (p.Val201=)
|
rs2151936107
|
|
|
NM_153717.3(EVC):c.604C>T (p.Leu202=)
|
|
|
|
NM_153717.3(EVC):c.609C>T (p.Ala203=)
|
rs2151936137
|
|
|
NM_153717.3(EVC):c.60G>C (p.Ala20=)
|
|
|
|
NM_153717.3(EVC):c.617+11C>T
|
|
|
|
NM_153717.3(EVC):c.617+12G>A
|
|
|
|
NM_153717.3(EVC):c.617+14G>T
|
|
|
|
NM_153717.3(EVC):c.617+15C>A
|
|
|
|
NM_153717.3(EVC):c.617+15C>T
|
|
|
|
NM_153717.3(EVC):c.617+18T>C
|
|
|
|
NM_153717.3(EVC):c.617+18T>G
|
|
|
|
NM_153717.3(EVC):c.617+19G>A
|
|
|
|
NM_153717.3(EVC):c.617+20G>T
|
|
|
|
NM_153717.3(EVC):c.618-13T>A
|
|
|
|
NM_153717.3(EVC):c.618-14A>C
|
rs767274362
|
|
|
NM_153717.3(EVC):c.618-15C>T
|
|
|
|
NM_153717.3(EVC):c.618-18T>G
|
|
|
|
NM_153717.3(EVC):c.618-19T>C
|
|
|
|
NM_153717.3(EVC):c.618-9A>T
|
rs2151945814
|
|
|
NM_153717.3(EVC):c.630C>T (p.Asp210=)
|
rs1339867475
|
|
|
NM_153717.3(EVC):c.633G>T (p.Leu211=)
|
|
|
|
NM_153717.3(EVC):c.636T>C (p.Cys212=)
|
rs2151945944
|
|
|
NM_153717.3(EVC):c.642C>T (p.Tyr214=)
|
rs2151945971
|
|
|
NM_153717.3(EVC):c.64C>A (p.Arg22=)
|
rs1267604048
|
|
|
NM_153717.3(EVC):c.651C>T (p.His217=)
|
|
|
|
NM_153717.3(EVC):c.666G>A (p.Leu222=)
|
rs1560299816
|
|
|
NM_153717.3(EVC):c.66G>A (p.Arg22=)
|
|
|
|
NM_153717.3(EVC):c.66G>C (p.Arg22=)
|
|
|
|
NM_153717.3(EVC):c.678G>A (p.Thr226=)
|
|
|
|
NM_153717.3(EVC):c.678G>C (p.Thr226=)
|
rs772621806
|
|
|
NM_153717.3(EVC):c.681A>G (p.Ala227=)
|
|
|
|
NM_153717.3(EVC):c.69G>A (p.Pro23=)
|
rs1722996127
|
|
|
NM_153717.3(EVC):c.702+12T>C
|
|
|
|
NM_153717.3(EVC):c.702+13G>A
|
|
|
|
NM_153717.3(EVC):c.702+15T>C
|
|
|
|
NM_153717.3(EVC):c.702+17G>A
|
|
|
|
NM_153717.3(EVC):c.702+18C>T
|
|
|
|
NM_153717.3(EVC):c.702+9A>T
|
rs1415648336
|
|
|
NM_153717.3(EVC):c.703-10T>G
|
rs1231822006
|
|
|
NM_153717.3(EVC):c.703-13T>A
|
|
|
|
NM_153717.3(EVC):c.703-15C>T
|
|
|
|
NM_153717.3(EVC):c.703-17T>C
|
|
|
|
NM_153717.3(EVC):c.703-19T>G
|
|
|
|
NM_153717.3(EVC):c.703-20C>T
|
|
|
|
NM_153717.3(EVC):c.703-5_703-4dup
|
|
|
|
NM_153717.3(EVC):c.703-7G>A
|
rs2152000339
|
|
|
NM_153717.3(EVC):c.703-8G>C
|
|
|
|
NM_153717.3(EVC):c.729C>T (p.Cys243=)
|
|
|
|
NM_153717.3(EVC):c.72G>C (p.Ala24=)
|
|
|
|
NM_153717.3(EVC):c.72G>T (p.Ala24=)
|
|
|
|
NM_153717.3(EVC):c.732C>T (p.Leu244=)
|
rs1035355173
|
|
|
NM_153717.3(EVC):c.73C>T (p.Pro25Ser)
|
|
|
|
NM_153717.3(EVC):c.747T>A (p.Pro249=)
|
|
|
|
NM_153717.3(EVC):c.75C>G (p.Pro25=)
|
rs1377348889
|
|
|
NM_153717.3(EVC):c.75C>T (p.Pro25=)
|
rs1377348889
|
|
|
NM_153717.3(EVC):c.765T>C (p.Asp255=)
|
rs2152000814
|
|
|
NM_153717.3(EVC):c.768A>G (p.Glu256=)
|
rs2152000830
|
|
|
NM_153717.3(EVC):c.786T>C (p.Leu262=)
|
|
|
|
NM_153717.3(EVC):c.792A>G (p.Lys264=)
|
rs2152001052
|
|
|
NM_153717.3(EVC):c.801+12A>G
|
|
|
|
NM_153717.3(EVC):c.801+13C>T
|
rs545838582
|
|
|
NM_153717.3(EVC):c.801+14C>A
|
|
|
|
NM_153717.3(EVC):c.801+16A>T
|
|
|
|
NM_153717.3(EVC):c.801+16_801+17del
|
|
|
|
NM_153717.3(EVC):c.802-12_802-8del
|
rs753304898
|
|
|
NM_153717.3(EVC):c.802-17TTC[3]
|
rs370315662
|
|
|
NM_153717.3(EVC):c.802-17TTC[4]
|
rs370315662
|
|
|
NM_153717.3(EVC):c.802-18T>C
|
|
|
|
NM_153717.3(EVC):c.802-19T>C
|
|
|
|
NM_153717.3(EVC):c.802-6C>T
|
rs773954366
|
|
|
NM_153717.3(EVC):c.802-9C>A
|
rs1309092985
|
|
|
NM_153717.3(EVC):c.802-9C>T
|
rs1309092985
|
|
|
NM_153717.3(EVC):c.807G>A (p.Leu269=)
|
|
|
|
NM_153717.3(EVC):c.813A>G (p.Glu271=)
|
|
|
|
NM_153717.3(EVC):c.81G>T (p.Leu27=)
|
rs2151767494
|
|
|
NM_153717.3(EVC):c.822G>A (p.Lys274=)
|
|
|
|
NM_153717.3(EVC):c.82C>T (p.Leu28=)
|
|
|
|
NM_153717.3(EVC):c.831G>A (p.Gln277=)
|
rs2152027341
|
|
|
NM_153717.3(EVC):c.834C>T (p.Val278=)
|
rs575589201
|
|
|
NM_153717.3(EVC):c.843A>G (p.Ser281=)
|
rs2152027396
|
|
|
NM_153717.3(EVC):c.846C>T (p.Asn282=)
|
|
|
|
NM_153717.3(EVC):c.84G>A (p.Leu28=)
|
|
|
|
NM_153717.3(EVC):c.858G>T (p.Ser286=)
|
|
|
|
NM_153717.3(EVC):c.861G>A (p.Gly287=)
|
|
|
|
NM_153717.3(EVC):c.870C>T (p.Asp290=)
|
|
|
|
NM_153717.3(EVC):c.873T>A (p.Ser291=)
|
rs1577407384
|
|
|
NM_153717.3(EVC):c.879C>T (p.Tyr293=)
|
|
|
|
NM_153717.3(EVC):c.87C>G (p.Ala29=)
|
|
|
|
NM_153717.3(EVC):c.87C>T (p.Ala29=)
|
|
|
|
NM_153717.3(EVC):c.891T>A (p.Ala297=)
|
|
|
|
NM_153717.3(EVC):c.903G>A (p.Lys301=)
|
rs2152027698
|
|
|
NM_153717.3(EVC):c.90C>T (p.Pro30=)
|
|
|
|
NM_153717.3(EVC):c.928C>T (p.Leu310=)
|
rs145300726
|
|
|
NM_153717.3(EVC):c.930A>G (p.Leu310=)
|
rs776792609
|
|
|
NM_153717.3(EVC):c.933C>T (p.Ile311=)
|
rs759718572
|
|
|
NM_153717.3(EVC):c.936T>C (p.Asp312=)
|
rs1294633111
|
|
|
NM_153717.3(EVC):c.939+10_939+11delinsGT
|
rs2152027986
|
|
|
NM_153717.3(EVC):c.939+11G>A
|
|
|
|
NM_153717.3(EVC):c.939+13C>A
|
|
|
|
NM_153717.3(EVC):c.939+16T>A
|
|
|
|
NM_153717.3(EVC):c.939+16T>C
|
|
|
|
NM_153717.3(EVC):c.939+17C>T
|
|
|
|
NM_153717.3(EVC):c.939+20T>A
|
|
|
|
NM_153717.3(EVC):c.939+9_939+10inv
|
|
|
|
NM_153717.3(EVC):c.93C>T (p.Ala31=)
|
rs866226288
|
|
|
NM_153717.3(EVC):c.940-14T>C
|
|
|
|
NM_153717.3(EVC):c.940-15G>A
|
|
|
|
NM_153717.3(EVC):c.940-15G>T
|
|
|
|
NM_153717.3(EVC):c.940-6T>C
|
rs2152044901
|
|
|
NM_153717.3(EVC):c.940-9A>G
|
rs1241925243
|
|
|
NM_153717.3(EVC):c.945A>G (p.Glu315=)
|
rs1057523442
|
|
|
NM_153717.3(EVC):c.957A>G (p.Lys319=)
|
rs2152045024
|
|
|
NM_153717.3(EVC):c.96G>A (p.Val32=)
|
rs2151767783
|
|
|
NM_153717.3(EVC):c.987G>A (p.Val329=)
|
|
|
|
NM_153717.3(EVC):c.990C>T (p.Asp330=)
|
rs2152045173
|
|
|
NM_153717.3(EVC):c.999G>A (p.Lys333=)
|
rs1729659333
|
|
|
NM_153717.3(EVC):c.9C>A (p.Arg3=)
|
rs1330946337
|
|
|
NM_173660.5(DOK7):c.100+11C>G
|
|
|
|
NM_173660.5(DOK7):c.100+11C>T
|
|
|
|
NM_173660.5(DOK7):c.100+12G>A
|
|
|
|
NM_173660.5(DOK7):c.100+14G>C
|
|
|
|
NM_173660.5(DOK7):c.100+15C>A
|
|
|
|
NM_173660.5(DOK7):c.100+17G>A
|
|
|
|
NM_173660.5(DOK7):c.100+21_100+36del
|
|
|
|
NM_173660.5(DOK7):c.1008G>C (p.Ser336=)
|
|
|
|
NM_173660.5(DOK7):c.1008G>T (p.Ser336=)
|
|
|
|
NM_173660.5(DOK7):c.101-12C>T
|
|
|
|
NM_173660.5(DOK7):c.101-15C>T
|
|
|
|
NM_173660.5(DOK7):c.101-17G>A
|
|
|
|
NM_173660.5(DOK7):c.101-18C>T
|
|
|
|
NM_173660.5(DOK7):c.101-20G>A
|
|
|
|
NM_173660.5(DOK7):c.101-8C>G
|
|
|
|
NM_173660.5(DOK7):c.1017C>A (p.Gly339=)
|
|
|
|
NM_173660.5(DOK7):c.1017C>T (p.Gly339=)
|
|
|
|
NM_173660.5(DOK7):c.1026T>G (p.Thr342=)
|
rs1437244628
|
|
|
NM_173660.5(DOK7):c.1035C>T (p.His345=)
|
|
|
|
NM_173660.5(DOK7):c.1038C>A (p.Ser346=)
|
|
|
|
NM_173660.5(DOK7):c.1038C>T (p.Ser346=)
|
|
|
|
NM_173660.5(DOK7):c.1047C>T (p.Ser349=)
|
|
|
|
NM_173660.5(DOK7):c.1059G>C (p.Ser353=)
|
|
|
|
NM_173660.5(DOK7):c.1062C>G (p.Ser354=)
|
|
|
|
NM_173660.5(DOK7):c.1068G>A (p.Ala356=)
|
|
|
|
NM_173660.5(DOK7):c.1068G>C (p.Ala356=)
|
|
|
|
NM_173660.5(DOK7):c.1068G>T (p.Ala356=)
|
rs372407972
|
|
|
NM_173660.5(DOK7):c.1080G>T (p.Leu360=)
|
rs2109418743
|
|
|
NM_173660.5(DOK7):c.111G>A (p.Leu37=)
|
rs2109335875
|
|
|
NM_173660.5(DOK7):c.1125G>C (p.Leu375=)
|
|
|
|
NM_173660.5(DOK7):c.1128A>C (p.Pro376=)
|
|
|
|
NM_173660.5(DOK7):c.1131A>G (p.Ala377=)
|
|
|
|
NM_173660.5(DOK7):c.1134G>C (p.Ala378=)
|
|
|
|
NM_173660.5(DOK7):c.1137G>A (p.Gly379=)
|
|
|
|
NM_173660.5(DOK7):c.1140C>T (p.Ala380=)
|
|
|
|
NM_173660.5(DOK7):c.1146G>A (p.Glu382=)
|
|
|
|
NM_173660.5(DOK7):c.1149C>T (p.Pro383=)
|
|
|
|
NM_173660.5(DOK7):c.1155G>A (p.Leu385=)
|
|
|
|
NM_173660.5(DOK7):c.1161C>G (p.Thr387=)
|
|
|
|
NM_173660.5(DOK7):c.1165C>T (p.Leu389=)
|
|
|
|
NM_173660.5(DOK7):c.1168C>T (p.Pro390Ser)
|
rs149525610
|
|
|
NM_173660.5(DOK7):c.1173G>C (p.Gly391=)
|
|
|
|
NM_173660.5(DOK7):c.1176A>T (p.Thr392=)
|
|
|
|
NM_173660.5(DOK7):c.1179C>G (p.Val393=)
|
rs138797230
|
|
|
NM_173660.5(DOK7):c.1179C>T (p.Val393=)
|
rs138797230
|
|
|
NM_173660.5(DOK7):c.117G>A (p.Leu39=)
|
|
|
|
NM_173660.5(DOK7):c.1188G>A (p.Gln396=)
|
rs1577183241
|
|
|
NM_173660.5(DOK7):c.1191G>A (p.Val397=)
|
|
|
|
NM_173660.5(DOK7):c.1194C>T (p.Pro398=)
|
|
|
|
NM_173660.5(DOK7):c.1203G>C (p.Leu401=)
|
|
|
|
NM_173660.5(DOK7):c.1215T>C (p.Tyr405=)
|
|
|
|
NM_173660.5(DOK7):c.1218C>T (p.Asp406=)
|
|
|
|
NM_173660.5(DOK7):c.1227C>A (p.Arg409=)
|
rs762828158
|
|
|
NM_173660.5(DOK7):c.1230C>T (p.Ser410=)
|
|
|
|
NM_173660.5(DOK7):c.1236C>T (p.Cys412=)
|
rs556834250
|
|
|
NM_173660.5(DOK7):c.1237C>T (p.Leu413=)
|
|
|
|
NM_173660.5(DOK7):c.1239G>A (p.Leu413=)
|
|
|
|
NM_173660.5(DOK7):c.1242T>G (p.Ala414=)
|
|
|
|
NM_173660.5(DOK7):c.1251C>T (p.Asp417=)
|
|
|
|
NM_173660.5(DOK7):c.1257C>T (p.Ser419=)
|
|
|
|
NM_173660.5(DOK7):c.1260C>A (p.Pro420=)
|
|
|
|
NM_173660.5(DOK7):c.1262C>G (p.Pro421Arg)
|
|
|
|
NM_173660.5(DOK7):c.1263C>A (p.Pro421=)
|
rs761693255
|
|
|
NM_173660.5(DOK7):c.1263C>G (p.Pro421=)
|
|
|
|
NM_173660.5(DOK7):c.1263C>T (p.Pro421=)
|
rs761693255
|
|
|
NM_173660.5(DOK7):c.1275C>T (p.Ser425=)
|
|
|
|
NM_173660.5(DOK7):c.1278C>G (p.Pro426=)
|
rs139468087
|
|
|
NM_173660.5(DOK7):c.1287T>C (p.Ser429=)
|
rs1255756275
|
|
|
NM_173660.5(DOK7):c.1296G>A (p.Arg432=)
|
rs1288310207
|
|
|
NM_173660.5(DOK7):c.129C>T (p.Asp43=)
|
|
|
|
NM_173660.5(DOK7):c.1305C>G (p.Gly435=)
|
rs201894731
|
|
|
NM_173660.5(DOK7):c.1305C>T (p.Gly435=)
|
rs201894731
|
|
|
NM_173660.5(DOK7):c.1308C>T (p.Gly436=)
|
|
|
|
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg)
|
rs376805794
|
|
|
NM_173660.5(DOK7):c.1317C>G (p.Ser439=)
|
|
|
|
NM_173660.5(DOK7):c.1323G>A (p.Gly441=)
|
rs755615582
|
|
|
NM_173660.5(DOK7):c.1329C>G (p.Pro443=)
|
rs768213796
|
|
|
NM_173660.5(DOK7):c.1329C>T (p.Pro443=)
|
|
|
|
NM_173660.5(DOK7):c.1332T>G (p.Ser444=)
|
|
|
|
NM_173660.5(DOK7):c.1335C>T (p.Gly445=)
|
|
|
|
NM_173660.5(DOK7):c.1347G>C (p.Thr449=)
|
|
|
|
NM_173660.5(DOK7):c.1347G>T (p.Thr449=)
|
|
|
|
NM_173660.5(DOK7):c.1356G>C (p.Arg452=)
|
rs1728663876
|
|
|
NM_173660.5(DOK7):c.1359C>T (p.Gly453=)
|
|
|
|
NM_173660.5(DOK7):c.135G>A (p.Ser45=)
|
|
|
|
NM_173660.5(DOK7):c.135G>C (p.Ser45=)
|
|
|
|
NM_173660.5(DOK7):c.1374C>T (p.Ala458=)
|
|
|
|
NM_173660.5(DOK7):c.1380G>A (p.Gln460=)
|
|
|
|
NM_173660.5(DOK7):c.1395A>G (p.Thr465=)
|
|
|
|
NM_173660.5(DOK7):c.1396C>T (p.Leu466=)
|
|
|
|
NM_173660.5(DOK7):c.1404C>A (p.Gly468=)
|
|
|
|
NM_173660.5(DOK7):c.1410C>T (p.Ala470=)
|
|
|
|
NM_173660.5(DOK7):c.1416C>T (p.Gly472=)
|
rs769793776
|
|
|
NM_173660.5(DOK7):c.141T>C (p.Arg47=)
|
|
|
|
NM_173660.5(DOK7):c.1428A>G (p.Glu476=)
|
|
|
|
NM_173660.5(DOK7):c.1440C>G (p.Pro480=)
|
|
|
|
NM_173660.5(DOK7):c.1458G>T (p.Pro486=)
|
rs763843300
|
|
|
NM_173660.5(DOK7):c.1467T>C (p.Phe489=)
|
|
|
|
NM_173660.5(DOK7):c.1470G>T (p.Ser490=)
|
|
|
|
NM_173660.5(DOK7):c.1473A>G (p.Ala491=)
|
|
|
|
NM_173660.5(DOK7):c.147G>A (p.Lys49=)
|
|
|
|
NM_173660.5(DOK7):c.1482C>A (p.Val494=)
|
|
|
|
NM_173660.5(DOK7):c.1497G>A (p.Lys499=)
|
|
|
|
NM_173660.5(DOK7):c.1503C>T (p.Asn501=)
|
|
|
|
NM_173660.5(DOK7):c.1506C>G (p.Pro502=)
|
|
|
|
NM_173660.5(DOK7):c.1508dup (p.Pro504fs)
|
rs773220689
|
|
|
NM_173660.5(DOK7):c.1514G>A (p.Ter505=)
|
|
|
|
NM_173660.5(DOK7):c.159G>A (p.Glu53=)
|
rs1008787863
|
|
|
NM_173660.5(DOK7):c.161G>A (p.Arg54His)
|
rs201818140
|
|
|
NM_173660.5(DOK7):c.163A>G (p.Ser55Gly)
|
rs550137245
|
|
|
NM_173660.5(DOK7):c.168C>T (p.Ser56=)
|
rs2109336068
|
|
|
NM_173660.5(DOK7):c.174G>A (p.Thr58=)
|
|
|
|
NM_173660.5(DOK7):c.177A>G (p.Leu59=)
|
|
|
|
NM_173660.5(DOK7):c.186C>A (p.Ile62=)
|
|
|
|
NM_173660.5(DOK7):c.210C>G (p.Pro70=)
|
|
|
|
NM_173660.5(DOK7):c.231G>A (p.Thr77=)
|
|
|
|
NM_173660.5(DOK7):c.237C>T (p.Ala79=)
|
|
|
|
NM_173660.5(DOK7):c.252C>A (p.Ser84=)
|
|
|
|
NM_173660.5(DOK7):c.252C>G (p.Ser84=)
|
|
|
|
NM_173660.5(DOK7):c.252C>T (p.Ser84=)
|
|
|
|
NM_173660.5(DOK7):c.27C>A (p.Gly9=)
|
rs768798756
|
|
|
NM_173660.5(DOK7):c.27C>T (p.Gly9=)
|
|
|
|
NM_173660.5(DOK7):c.288C>T (p.Ala96=)
|
rs890259305
|
|
|
NM_173660.5(DOK7):c.294T>C (p.Cys98=)
|
|
|
|
NM_173660.5(DOK7):c.297G>T (p.Ala99=)
|
|
|
|
NM_173660.5(DOK7):c.309G>A (p.Arg103=)
|
|
|
|
NM_173660.5(DOK7):c.30G>A (p.Gln10=)
|
rs1341926638
|
|
|
NM_173660.5(DOK7):c.324C>T (p.Leu108=)
|
|
|
|
NM_173660.5(DOK7):c.331+10G>A
|
|
|
|
NM_173660.5(DOK7):c.331+11GGGGCC[3]
|
rs745546967
|
|
|
NM_173660.5(DOK7):c.331+14G>T
|
|
|
|
NM_173660.5(DOK7):c.331+15C>G
|
|
|
|
NM_173660.5(DOK7):c.331+15_331+16del
|
|
|
|
NM_173660.5(DOK7):c.331+17G>A
|
|
|
|
NM_173660.5(DOK7):c.331+18G>A
|
|
|
|
NM_173660.5(DOK7):c.331+20_331+25del
|
|
|
|
NM_173660.5(DOK7):c.331+7G>A
|
|
|
|
NM_173660.5(DOK7):c.332-107_332-4del
|
rs1727060359
|
|
|
NM_173660.5(DOK7):c.332-12G>A
|
|
|
|
NM_173660.5(DOK7):c.332-12G>C
|
|
|
|
NM_173660.5(DOK7):c.332-15C>T
|
|
|
|
NM_173660.5(DOK7):c.332-17G>A
|
|
|
|
NM_173660.5(DOK7):c.332-4G>C
|
|
|
|
NM_173660.5(DOK7):c.332-7C>A
|
|
|
|
NM_173660.5(DOK7):c.332-95_332-18del
|
|
|
|
NM_173660.5(DOK7):c.332-9_332-8insTGCCCC
|
|
|
|
NM_173660.5(DOK7):c.333G>A (p.Val111=)
|
rs1197491516
|
|
|
NM_173660.5(DOK7):c.336T>C (p.His112=)
|
|
|
|
NM_173660.5(DOK7):c.339G>A (p.Arg113=)
|
|
|
|
NM_173660.5(DOK7):c.363C>T (p.Gly121=)
|
rs1427150506
|
|
|
NM_173660.5(DOK7):c.366C>G (p.Thr122=)
|
rs1365607498
|
|
|
NM_173660.5(DOK7):c.36G>A (p.Lys12=)
|
|
|
|
NM_173660.5(DOK7):c.381C>T (p.Gly127=)
|
|
|
|
NM_173660.5(DOK7):c.384G>A (p.Pro128=)
|
|
|
|
NM_173660.5(DOK7):c.390C>G (p.Thr130=)
|
|
|
|
NM_173660.5(DOK7):c.390C>T (p.Thr130=)
|
|
|
|
NM_173660.5(DOK7):c.399C>G (p.Leu133=)
|
|
|
|
NM_173660.5(DOK7):c.399C>T (p.Leu133=)
|
rs2109343497
|
|
|
NM_173660.5(DOK7):c.411C>A (p.Val137=)
|
|
|
|
NM_173660.5(DOK7):c.42G>A (p.Arg14=)
|
|
|
|
NM_173660.5(DOK7):c.435C>T (p.Pro145=)
|
|
|
|
NM_173660.5(DOK7):c.438G>A (p.Pro146=)
|
|
|
|
NM_173660.5(DOK7):c.447G>A (p.Thr149=)
|
|
|
|
NM_173660.5(DOK7):c.450G>A (p.Gly150=)
|
|
|
|
NM_173660.5(DOK7):c.45C>T (p.Asp15=)
|
rs759054772
|
|
|
NM_173660.5(DOK7):c.468C>T (p.Asp156=)
|
|
|
|
NM_173660.5(DOK7):c.471C>T (p.Leu157=)
|
|
|
|
NM_173660.5(DOK7):c.48C>G (p.Gly16=)
|
|
|
|
NM_173660.5(DOK7):c.498A>T (p.Gly166=)
|
|
|
|
NM_173660.5(DOK7):c.501C>T (p.Phe167=)
|
rs1374098055
|
|
|
NM_173660.5(DOK7):c.516G>T (p.Gly172=)
|
|
|
|
NM_173660.5(DOK7):c.532+13G>A
|
|
|
|
NM_173660.5(DOK7):c.532+15G>A
|
|
|
|
NM_173660.5(DOK7):c.532+20G>A
|
rs2109344000
|
|
|
NM_173660.5(DOK7):c.532+8C>T
|
|
|
|
NM_173660.5(DOK7):c.533-15G>C
|
|
|
|
NM_173660.5(DOK7):c.533-16T>C
|
|
|
|
NM_173660.5(DOK7):c.533-19C>T
|
|
|
|
NM_173660.5(DOK7):c.533-4G>A
|
|
|
|
NM_173660.5(DOK7):c.533-6C>T
|
rs1727716278
|
|
|
NM_173660.5(DOK7):c.533-8C>G
|
|
|
|
NM_173660.5(DOK7):c.533-9C>T
|
|
|
|
NM_173660.5(DOK7):c.54+11G>A
|
|
|
|
NM_173660.5(DOK7):c.54+13C>A
|
|
|
|
NM_173660.5(DOK7):c.54+16G>A
|
|
|
|
NM_173660.5(DOK7):c.54+20G>A
|
rs1480112817
|
|
|
NM_173660.5(DOK7):c.54+20del
|
rs1726078584
|
|
|
NM_173660.5(DOK7):c.54+21C>G
|
|
|
|
NM_173660.5(DOK7):c.54+21C>T
|
rs865893625
|
|
|
NM_173660.5(DOK7):c.54+21_54+22del
|
|
|
|
NM_173660.5(DOK7):c.54+21del
|
rs1170595407
|
|
|
NM_173660.5(DOK7):c.54+22G>A
|
rs1726079112
|
|
|
NM_173660.5(DOK7):c.54+22G>T
|
rs1726079112
|
|
|
NM_173660.5(DOK7):c.54+22_54+23insA
|
|
|
|
NM_173660.5(DOK7):c.54+22_54+23insC
|
|
|
|
NM_173660.5(DOK7):c.54+22_54+23insT
|
|
|
|
NM_173660.5(DOK7):c.54+23G>C
|
rs781051112
|
|
|
NM_173660.5(DOK7):c.54+23G>T
|
rs781051112
|
|
|
NM_173660.5(DOK7):c.54+23_54+24insCG
|
|
|
|
NM_173660.5(DOK7):c.54+23_54+24insT
|
|
|
|
NM_173660.5(DOK7):c.54+24G>A
|
|
|
|
NM_173660.5(DOK7):c.54+24G>C
|
|
|
|
NM_173660.5(DOK7):c.54+24_54+25insA
|
|
|
|
NM_173660.5(DOK7):c.54+24_54+25insC
|
|
|
|
NM_173660.5(DOK7):c.54+25G>A
|
rs769791490
|
|
|
NM_173660.5(DOK7):c.54+25G>C
|
|
|
|
NM_173660.5(DOK7):c.54+25G>T
|
|
|
|
NM_173660.5(DOK7):c.54+25_54+26insA
|
|
|
|
NM_173660.5(DOK7):c.54+25_54+26insC
|
rs767285554
|
|
|
NM_173660.5(DOK7):c.54+25_54+26insCG
|
rs906657133
|
|
|
NM_173660.5(DOK7):c.54+25_54+26insT
|
|
|
|
NM_173660.5(DOK7):c.54+26G>A
|
|
|
|
NM_173660.5(DOK7):c.54+26G>C
|
rs543525751
|
|
|
NM_173660.5(DOK7):c.54+26G>T
|
rs543525751
|
|
|
NM_173660.5(DOK7):c.54+26_54+27insA
|
|
|
|
NM_173660.5(DOK7):c.54+26_54+27insAGGGG
|
rs1553844254
|
|
|
NM_173660.5(DOK7):c.54+26_54+27insC
|
|
|
|
NM_173660.5(DOK7):c.54+26_54+27insT
|
|
|
|
NM_173660.5(DOK7):c.54+27G>A
|
rs774468059
|
|
|
NM_173660.5(DOK7):c.54+27G>C
|
rs774468059
|
|
|
NM_173660.5(DOK7):c.54+27G>T
|
rs774468059
|
|
|
NM_173660.5(DOK7):c.54+27_54+28insA
|
|
|
|
NM_173660.5(DOK7):c.54+27_54+28insC
|
rs1282356351
|
|
|
NM_173660.5(DOK7):c.54+27_54+28insCG
|
|
|
|
NM_173660.5(DOK7):c.54+27_54+28insT
|
|
|
|
NM_173660.5(DOK7):c.54+28G>A
|
|
|
|
NM_173660.5(DOK7):c.54+28G>C
|
rs772575255
|
|
|
NM_173660.5(DOK7):c.54+28G>T
|
rs772575255
|
|
|
NM_173660.5(DOK7):c.54+28_54+29insA
|
rs777859905
|
|
|
NM_173660.5(DOK7):c.54+28_54+29insC
|
|
|
|
NM_173660.5(DOK7):c.54+28_54+29insCG
|
|
|
|
NM_173660.5(DOK7):c.54+28_54+29insT
|
|
|
|
NM_173660.5(DOK7):c.54+29G>A
|
|
|
|
NM_173660.5(DOK7):c.54+29G>C
|
rs767030857
|
|
|
NM_173660.5(DOK7):c.54+29G>T
|
rs767030857
|
|
|
NM_173660.5(DOK7):c.54+29_54+30insA
|
|
|
|
NM_173660.5(DOK7):c.54+29_54+30insC
|
|
|
|
NM_173660.5(DOK7):c.54+29_54+30insT
|
|
|
|
NM_173660.5(DOK7):c.54+30G>A
|
rs562528761
|
|
|
NM_173660.5(DOK7):c.54+30G>T
|
rs562528761
|
|
|
NM_173660.5(DOK7):c.54+30_54+31insA
|
|
|
|
NM_173660.5(DOK7):c.54+31G>A
|
|
|
|
NM_173660.5(DOK7):c.54+31G>C
|
|
|
|
NM_173660.5(DOK7):c.54+31GGGCGC[3]
|
|
|
|
NM_173660.5(DOK7):c.54+31_54+32insC
|
|
|
|
NM_173660.5(DOK7):c.54+31_54+32insCGCG
|
|
|
|
NM_173660.5(DOK7):c.54+32G>T
|
|
|
|
NM_173660.5(DOK7):c.54+32_54+33insCGCGG
|
rs1485695721
|
|
|
NM_173660.5(DOK7):c.54+32_54+33insTG
|
|
|
|
NM_173660.5(DOK7):c.54+33G>A
|
|
|
|
NM_173660.5(DOK7):c.54+33G>C
|
rs943989420
|
|
|
NM_173660.5(DOK7):c.54+33_54+34insGCGCGGG
|
rs1553844286
|
|
|
NM_173660.5(DOK7):c.54+33_54+34insGGCGCGGG
|
|
|
|
NM_173660.5(DOK7):c.54+33del
|
rs71180187
|
|
|
NM_173660.5(DOK7):c.54+34C>G
|
|
|
|
NM_173660.5(DOK7):c.54+34_54+37del
|
|
|
|
NM_173660.5(DOK7):c.54+34_54+38del
|
|
|
|
NM_173660.5(DOK7):c.54+34del
|
rs1726087779
|
|
|
NM_173660.5(DOK7):c.54+34dup
|
|
|
|
NM_173660.5(DOK7):c.54+36C>G
|
|
|
|
NM_173660.5(DOK7):c.54+36_54+37del
|
rs1289091767
|
|
|
NM_173660.5(DOK7):c.54+38G>C
|
|
|
|
NM_173660.5(DOK7):c.54+7G>A
|
|
|
|
NM_173660.5(DOK7):c.54+8_54+17dup
|
|
|
|
NM_173660.5(DOK7):c.54+9G>A
|
|
|
|
NM_173660.5(DOK7):c.540C>T (p.Gly180=)
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NM_173660.5(DOK7):c.549C>T (p.Phe183=)
|
rs1448680067
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NM_173660.5(DOK7):c.55-12C>G
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NM_173660.5(DOK7):c.55-13C>G
|
rs886038744
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NM_173660.5(DOK7):c.55-13C>T
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NM_173660.5(DOK7):c.55-15C>G
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NM_173660.5(DOK7):c.55-16C>A
|
rs976572936
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NM_173660.5(DOK7):c.55-17C>T
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NM_173660.5(DOK7):c.55-18_55-17insA
|
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NM_173660.5(DOK7):c.55-38G>A
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NM_173660.5(DOK7):c.55-4G>A
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NM_173660.5(DOK7):c.55-8C>T
|
rs2109312415
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NM_173660.5(DOK7):c.550C>T (p.Leu184=)
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NM_173660.5(DOK7):c.558G>A (p.Ser186=)
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NM_173660.5(DOK7):c.558G>T (p.Ser186=)
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NM_173660.5(DOK7):c.570G>A (p.Glu190=)
|
rs962876610
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NM_173660.5(DOK7):c.576C>T (p.Ile192=)
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NM_173660.5(DOK7):c.588C>T (p.Phe196=)
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rs149940009
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NM_173660.5(DOK7):c.597C>A (p.Ile199=)
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NM_173660.5(DOK7):c.600C>A (p.Val200=)
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NM_173660.5(DOK7):c.603A>C (p.Arg201=)
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NM_173660.5(DOK7):c.60G>A (p.Lys20=)
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NM_173660.5(DOK7):c.612C>T (p.Ser204=)
|
rs2109370734
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NM_173660.5(DOK7):c.615C>A (p.Pro205=)
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NM_173660.5(DOK7):c.615C>G (p.Pro205=)
|
rs553239093
|
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NM_173660.5(DOK7):c.615C>T (p.Pro205=)
|
rs553239093
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NM_173660.5(DOK7):c.618C>A (p.Thr206=)
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NM_173660.5(DOK7):c.621G>A (p.Lys207=)
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NM_173660.5(DOK7):c.633G>T (p.Gly211=)
|
rs1577165754
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NM_173660.5(DOK7):c.642G>A (p.Pro214=)
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NM_173660.5(DOK7):c.642G>C (p.Pro214=)
|
rs746371931
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NM_173660.5(DOK7):c.652+16T>G
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NM_173660.5(DOK7):c.652+20C>G
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NM_173660.5(DOK7):c.652+20C>T
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NM_173660.5(DOK7):c.652+8T>C
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NM_173660.5(DOK7):c.652+9G>A
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NM_173660.5(DOK7):c.653-11_653-8del
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NM_173660.5(DOK7):c.653-13C>T
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NM_173660.5(DOK7):c.653-18G>A
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NM_173660.5(DOK7):c.653-20G>A
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NM_173660.5(DOK7):c.653-20G>C
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NM_173660.5(DOK7):c.653-20del
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NM_173660.5(DOK7):c.653-4A>G
|
rs1577171863
|
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NM_173660.5(DOK7):c.653-5C>T
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NM_173660.5(DOK7):c.657A>G (p.Pro219=)
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NM_173660.5(DOK7):c.657A>T (p.Pro219=)
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NM_173660.5(DOK7):c.663C>T (p.Pro221=)
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NM_173660.5(DOK7):c.666G>T (p.Pro222=)
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NM_173660.5(DOK7):c.66G>A (p.Arg22=)
|
rs1726093217
|
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NM_173660.5(DOK7):c.678T>G (p.Thr226=)
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NM_173660.5(DOK7):c.690T>G (p.Arg230=)
|
rs1577172106
|
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NM_173660.5(DOK7):c.696C>T (p.Ala232=)
|
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NM_173660.5(DOK7):c.699G>A (p.Gln233=)
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NM_173660.5(DOK7):c.6C>T (p.Thr2=)
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NM_173660.5(DOK7):c.702A>G (p.Glu234=)
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NM_173660.5(DOK7):c.708G>A (p.Leu236=)
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NM_173660.5(DOK7):c.714C>A (p.Thr238=)
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NM_173660.5(DOK7):c.714C>T (p.Thr238=)
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NM_173660.5(DOK7):c.717A>G (p.Leu239=)
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NM_173660.5(DOK7):c.720G>A (p.Gln240=)
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NM_173660.5(DOK7):c.752C>A (p.Ala251Glu)
|
rs376251309
|
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NM_173660.5(DOK7):c.753G>C (p.Ala251=)
|
rs59932476
|
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NM_173660.5(DOK7):c.753G>T (p.Ala251=)
|
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NM_173660.5(DOK7):c.757A>C (p.Arg253=)
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NM_173660.5(DOK7):c.762G>C (p.Pro254=)
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NM_173660.5(DOK7):c.768T>C (p.Ser256=)
|
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|
NM_173660.5(DOK7):c.772+13G>A
|
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NM_173660.5(DOK7):c.772+14C>T
|
rs201023802
|
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NM_173660.5(DOK7):c.772+14del
|
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NM_173660.5(DOK7):c.772+8C>G
|
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NM_173660.5(DOK7):c.773-10T>G
|
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NM_173660.5(DOK7):c.773-11C>T
|
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NM_173660.5(DOK7):c.773-13T>C
|
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NM_173660.5(DOK7):c.773-15C>G
|
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NM_173660.5(DOK7):c.773-15C>T
|
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NM_173660.5(DOK7):c.773-19G>T
|
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NM_173660.5(DOK7):c.773-7_773-4del
|
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|
NM_173660.5(DOK7):c.773-9C>G
|
|
|
|
NM_173660.5(DOK7):c.773-9C>T
|
rs376190589
|
|
|
NM_173660.5(DOK7):c.781C>G (p.Arg261Gly)
|
rs142821143
|
|
|
NM_173660.5(DOK7):c.783C>G (p.Arg261=)
|
rs1366900661
|
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|
NM_173660.5(DOK7):c.789G>A (p.Leu263=)
|
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|
NM_173660.5(DOK7):c.798A>G (p.Ser266=)
|
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|
|
NM_173660.5(DOK7):c.801C>T (p.Ser267=)
|
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|
|
NM_173660.5(DOK7):c.819G>A (p.Leu273=)
|
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|
NM_173660.5(DOK7):c.825C>G (p.Val275=)
|
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|
NM_173660.5(DOK7):c.840G>C (p.Arg280=)
|
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|
|
NM_173660.5(DOK7):c.855A>G (p.Pro285=)
|
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|
NM_173660.5(DOK7):c.858G>A (p.Glu286=)
|
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|
|
NM_173660.5(DOK7):c.861A>G (p.Gln287=)
|
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|
|
NM_173660.5(DOK7):c.867G>A (p.Ser289=)
|
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|
|
NM_173660.5(DOK7):c.867G>C (p.Ser289=)
|
rs145862647
|
|
|
NM_173660.5(DOK7):c.870G>A (p.Ser290=)
|
rs149019681
|
|
|
NM_173660.5(DOK7):c.870G>C (p.Ser290=)
|
|
|
|
NM_173660.5(DOK7):c.873A>G (p.Ser291=)
|
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|
|
NM_173660.5(DOK7):c.87G>A (p.Pro29=)
|
|
|
|
NM_173660.5(DOK7):c.882G>C (p.Thr294=)
|
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|
|
NM_173660.5(DOK7):c.891G>A (p.Glu297=)
|
|
|
|
NM_173660.5(DOK7):c.894G>T (p.Gly298=)
|
|
|
|
NM_173660.5(DOK7):c.906A>G (p.Ala302=)
|
|
|
|
NM_173660.5(DOK7):c.918C>G (p.Ala306=)
|
rs141947707
|
|
|
NM_173660.5(DOK7):c.921C>G (p.Ala307=)
|
|
|
|
NM_173660.5(DOK7):c.924G>C (p.Gly308=)
|
|
|
|
NM_173660.5(DOK7):c.927A>G (p.Glu309=)
|
|
|
|
NM_173660.5(DOK7):c.93C>T (p.Pro31=)
|
|
|
|
NM_173660.5(DOK7):c.946A>C (p.Arg316=)
|
rs898373845
|
|
|
NM_173660.5(DOK7):c.956C>A (p.Pro319His)
|
rs376334067
|
|
|
NM_173660.5(DOK7):c.957C>T (p.Pro319=)
|
rs777573281
|
|
|
NM_173660.5(DOK7):c.960G>A (p.Lys320=)
|
|
|
|
NM_173660.5(DOK7):c.963G>A (p.Pro321=)
|
rs112624739
|
|
|
NM_173660.5(DOK7):c.963G>T (p.Pro321=)
|
|
|
|
NM_173660.5(DOK7):c.964C>T (p.Leu322=)
|
|
|
|
NM_173660.5(DOK7):c.96G>A (p.Val32=)
|
|
|
|
NM_173660.5(DOK7):c.96G>T (p.Val32=)
|
|
|
|
NM_173660.5(DOK7):c.973C>A (p.Arg325=)
|
rs376280466
|
|
|
NM_173660.5(DOK7):c.987G>A (p.Glu329=)
|
|
|
|
NM_173660.5(DOK7):c.993C>G (p.Gly331=)
|
|
|
|
NM_173660.5(DOK7):c.999G>A (p.Gln333=)
|
|
|