NM_001081.4(CUBN):c.2594G>A (p.Ser865Asn)
|
rs138083522
|
0.00756
|
NM_030943.4(AMN):c.773T>C (p.Leu258Ser)
|
rs190222721
|
0.00544
|
NM_002454.3(MTRR):c.1326C>T (p.Leu442=)
|
rs144781389
|
0.00274
|
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys)
|
rs138545198
|
0.00253
|
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)
|
rs4986933
|
0.00253
|
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys)
|
rs145040928
|
0.00243
|
NM_000096.4(CP):c.322C>T (p.His108Tyr)
|
rs34386552
|
0.00235
|
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala)
|
rs151105762
|
0.00218
|
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)
|
rs73505420
|
0.00210
|
NM_006363.6(SEC23B):c.1595G>C (p.Gly532Ala)
|
rs143456757
|
0.00207
|
NM_001243177.4(ALDOA):c.274+4C>T
|
rs200278984
|
0.00204
|
NM_000254.3(MTR):c.3337G>A (p.Ala1113Thr)
|
rs146071220
|
0.00203
|
NM_005236.3(ERCC4):c.1488A>T (p.Gln496His)
|
rs146601373
|
0.00201
|
NM_002454.3(MTRR):c.857C>T (p.Thr286Met)
|
rs79430644
|
0.00198
|
NM_000355.4(TCN2):c.554C>T (p.Pro185Leu)
|
rs146009793
|
0.00196
|
NM_002454.3(MTRR):c.1982A>G (p.His661Arg)
|
rs148909799
|
0.00196
|
NM_002454.3(MTRR):c.739C>T (p.Pro247Ser)
|
rs114053717
|
0.00190
|
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
|
rs151304828
|
0.00189
|
NM_206965.2(FTCD):c.643C>T (p.Arg215Cys)
|
rs149667449
|
0.00187
|
NM_000096.4(CP):c.1945G>A (p.Ala649Thr)
|
rs141466225
|
0.00186
|
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn)
|
rs147449194
|
0.00181
|
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)
|
rs141093638
|
0.00181
|
NM_001018115.3(FANCD2):c.4281+115C>A
|
rs78896323
|
0.00179
|
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)
|
rs74977201
|
0.00176
|
NM_006363.6(SEC23B):c.1317G>T (p.Glu439Asp)
|
rs147410912
|
0.00176
|
NM_020937.4(FANCM):c.491A>C (p.His164Pro)
|
rs144278051
|
0.00176
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe)
|
rs142007602
|
0.00161
|
NM_030943.4(AMN):c.1137G>T (p.Ala379=)
|
rs533317064
|
0.00159
|
NM_000135.4(FANCA):c.754G>A (p.Asp252Asn)
|
rs111944585
|
0.00158
|
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)
|
rs141640975
|
0.00155
|
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)
|
rs141868117
|
0.00150
|
NM_005142.3(CBLIF):c.154T>A (p.Tyr52Asn)
|
rs144916324
|
0.00148
|
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val)
|
rs144215747
|
0.00147
|
NM_001022.4(RPS19):c.72-92A>G
|
rs566047445
|
0.00146
|
NM_002454.3(MTRR):c.1544C>T (p.Ala515Val)
|
rs16879355
|
0.00145
|
NM_001081.4(CUBN):c.6142C>G (p.Gln2048Glu)
|
rs146995189
|
0.00143
|
NM_000355.4(TCN2):c.296A>C (p.Lys99Thr)
|
rs150225103
|
0.00135
|
NM_000355.4(TCN2):c.523G>A (p.Val175Met)
|
rs142791153
|
0.00134
|
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)
|
rs117620008
|
0.00133
|
NM_032444.4(SLX4):c.422G>T (p.Gly141Val)
|
rs77306735
|
0.00131
|
NM_001081.4(CUBN):c.349-8A>G
|
rs188559699
|
0.00129
|
NM_020937.4(FANCM):c.2268C>A (p.Arg756=)
|
rs146061601
|
0.00128
|
NM_206965.2(FTCD):c.1409G>A (p.Arg470Gln)
|
rs61735839
|
0.00128
|
NM_001113378.2(FANCI):c.753C>T (p.Asp251=)
|
rs151169233
|
0.00124
|
NM_015506.3(MMACHC):c.332G>A (p.Arg111Gln)
|
rs200300254
|
0.00123
|
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala)
|
rs149803148
|
0.00121
|
NM_020937.4(FANCM):c.4147T>G (p.Tyr1383Asp)
|
rs144104545
|
0.00118
|
NM_030943.4(AMN):c.57G>T (p.Ala19=)
|
rs145328398
|
0.00118
|
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)
|
rs147370143
|
0.00117
|
NM_001018115.3(FANCD2):c.311T>C (p.Ile104Thr)
|
rs143936557
|
0.00115
|
NM_001018115.3(FANCD2):c.986C>G (p.Ala329Gly)
|
rs116736407
|
0.00113
|
NM_001081.4(CUBN):c.6673G>C (p.Asp2225His)
|
rs140862613
|
0.00111
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
NM_005236.3(ERCC4):c.325G>A (p.Ala109Thr)
|
rs148791570
|
0.00107
|
NM_182916.3(TRNT1):c.809C>G (p.Pro270Arg)
|
rs187921784
|
0.00106
|
NM_001081.4(CUBN):c.7509G>A (p.Pro2503=)
|
rs201001705
|
0.00105
|
NM_001081.4(CUBN):c.10002G>C (p.Gln3334His)
|
rs147330179
|
0.00104
|
NM_004629.2(FANCG):c.739C>A (p.Gln247Lys)
|
rs145613634
|
0.00103
|
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg)
|
rs41552412
|
0.00099
|
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu)
|
rs143753228
|
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_002454.3(MTRR):c.869T>C (p.Ile290Thr)
|
rs144899305
|
0.00096
|
NM_005050.4(ABCD4):c.518A>G (p.Tyr173Cys)
|
rs188205145
|
0.00096
|
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_001081.4(CUBN):c.9078C>T (p.Phe3026=)
|
rs140524729
|
0.00091
|
NM_005334.3(HCFC1):c.2872A>G (p.Thr958Ala)
|
rs3027884
|
0.00091
|
NM_005334.3(HCFC1):c.4159G>A (p.Val1387Met)
|
rs200164926
|
0.00091
|
NM_020937.4(FANCM):c.926A>C (p.Glu309Ala)
|
rs143006771
|
0.00091
|
NM_001081.4(CUBN):c.3356T>C (p.Leu1119Ser)
|
rs141164907
|
0.00089
|
NM_005142.3(CBLIF):c.910C>T (p.Pro304Ser)
|
rs150926439
|
0.00089
|
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=)
|
rs146054214
|
0.00085
|
NM_006363.6(SEC23B):c.1198T>C (p.Phe400Leu)
|
rs142461689
|
0.00084
|
NM_001081.4(CUBN):c.5857G>C (p.Gly1953Arg)
|
rs141489700
|
0.00083
|
NM_001113378.2(FANCI):c.1491A>G (p.Gln497=)
|
rs145349375
|
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_000254.3(MTR):c.1862A>G (p.Asp621Gly)
|
rs61736440
|
0.00081
|
NM_001081.4(CUBN):c.7210+9A>G
|
rs117711403
|
0.00081
|
NM_033022.4(RPS24):c.371A>G (p.Asn124Ser)
|
rs147128920
|
0.00081
|
NM_001081.4(CUBN):c.5733+16C>T
|
rs139579256
|
0.00080
|
NM_030943.4(AMN):c.275C>T (p.Ser92Leu)
|
rs144707331
|
0.00079
|
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)
|
rs140473672
|
0.00078
|
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_002454.3(MTRR):c.446C>T (p.Ala149Val)
|
rs142714881
|
0.00077
|
NM_000135.4(FANCA):c.2391G>A (p.Ala797=)
|
rs147882314
|
0.00076
|
NM_001081.4(CUBN):c.3G>T (p.Met1Ile)
|
rs11254385
|
0.00076
|
NM_020937.4(FANCM):c.2517T>G (p.Ile839Met)
|
rs61744648
|
0.00076
|
NM_015506.3(MMACHC):c.798C>T (p.Ala266=)
|
rs201813445
|
0.00075
|
NM_000254.3(MTR):c.1141G>A (p.Ala381Thr)
|
rs144777709
|
0.00073
|
NM_206965.2(FTCD):c.141C>T (p.Thr47=)
|
rs61735837
|
0.00072
|
NM_001243177.4(ALDOA):c.787-20G>A
|
rs75559164
|
0.00071
|
NM_182916.3(TRNT1):c.862T>A (p.Phe288Ile)
|
rs147986219
|
0.00071
|
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe)
|
rs141567438
|
0.00069
|
NM_005142.3(CBLIF):c.455C>T (p.Pro152Leu)
|
rs148081315
|
0.00066
|
NM_032444.4(SLX4):c.2667A>G (p.Gln889=)
|
rs146790631
|
0.00066
|
NM_000254.3(MTR):c.2622G>A (p.Pro874=)
|
rs141919148
|
0.00064
|
NM_001081.4(CUBN):c.4669C>T (p.Leu1557Phe)
|
rs140970422
|
0.00064
|
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn)
|
rs142864437
|
0.00064
|
NM_001081.4(CUBN):c.7112C>T (p.Ser2371Phe)
|
rs141819241
|
0.00063
|
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)
|
rs145247580
|
0.00063
|
NM_000135.4(FANCA):c.1537T>C (p.Leu513=)
|
rs144118098
|
0.00062
|
NM_002454.3(MTRR):c.54C>T (p.Ile18=)
|
rs6413426
|
0.00062
|
NM_015702.3(MMADHC):c.741A>G (p.Glu247=)
|
rs146820547
|
0.00062
|
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_182916.3(TRNT1):c.1292T>C (p.Ile431Thr)
|
rs150984011
|
0.00061
|
NM_005236.3(ERCC4):c.2292C>T (p.Ser764=)
|
rs139406689
|
0.00060
|
NM_001081.4(CUBN):c.8410+18T>C
|
rs186604664
|
0.00059
|
NM_005050.4(ABCD4):c.1230G>A (p.Lys410=)
|
rs145155300
|
0.00059
|
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)
|
rs141268133
|
0.00059
|
NM_000096.4(CP):c.249T>C (p.Thr83=)
|
rs138512757
|
0.00058
|
NM_001243177.4(ALDOA):c.471T>A (p.Gly157=)
|
rs142231603
|
0.00058
|
NM_001018115.3(FANCD2):c.3877G>A (p.Val1293Ile)
|
rs138398760
|
0.00057
|
NM_206965.2(FTCD):c.999A>C (p.Arg333=)
|
rs565210074
|
0.00057
|
NM_000135.4(FANCA):c.3514-13G>A
|
rs200270574
|
0.00056
|
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln)
|
rs61743653
|
0.00056
|
NM_000987.5(RPL26):c.128A>G (p.Asn43Ser)
|
rs149055327
|
0.00056
|
NM_002454.3(MTRR):c.1058-16G>A
|
rs201644712
|
0.00056
|
NM_030943.4(AMN):c.835C>T (p.Leu279=)
|
rs371426960
|
0.00056
|
NM_206965.2(FTCD):c.1122G>A (p.Val374=)
|
rs376986639
|
0.00056
|
NM_000096.4(CP):c.2878+7C>A
|
rs371031293
|
0.00055
|
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)
|
rs139002130
|
0.00055
|
NM_020937.4(FANCM):c.4673-12A>G
|
rs373163994
|
0.00055
|
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)
|
rs1800346
|
0.00053
|
NM_001018115.3(FANCD2):c.1130A>G (p.His377Arg)
|
rs141141752
|
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_020937.4(FANCM):c.5067G>A (p.Ala1689=)
|
rs148900115
|
0.00051
|
NM_032043.3(BRIP1):c.1935+11G>A
|
rs79121306
|
0.00051
|
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)
|
rs6045440
|
0.00050
|
NM_206965.2(FTCD):c.636+9G>A
|
rs370596374
|
0.00050
|
NM_000096.4(CP):c.2554+8C>T
|
rs749646388
|
0.00049
|
NM_000135.4(FANCA):c.4261-8T>G
|
rs372268907
|
0.00049
|
NM_022725.4(FANCF):c.672C>T (p.Pro224=)
|
rs148955347
|
0.00049
|
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)
|
rs143615668
|
0.00048
|
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)
|
rs143671872
|
0.00047
|
NM_005050.4(ABCD4):c.1507-18C>T
|
rs368891249
|
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_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_000289.6(PFKM):c.495T>A (p.Ile165=)
|
rs148858610
|
0.00046
|
NM_001243177.4(ALDOA):c.1182A>G (p.Gln394=)
|
rs143419532
|
0.00046
|
NM_005050.4(ABCD4):c.425+13A>G
|
rs370752716
|
0.00046
|
NM_020937.4(FANCM):c.159C>T (p.Asp53=)
|
rs147559750
|
0.00046
|
NM_015506.3(MMACHC):c.277-4C>G
|
rs199889403
|
0.00045
|
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=)
|
rs148976047
|
0.00044
|
NM_002454.3(MTRR):c.958A>G (p.Ser320Gly)
|
rs199762141
|
0.00044
|
NM_032444.4(SLX4):c.1707G>A (p.Pro569=)
|
rs141687678
|
0.00044
|
NM_000135.4(FANCA):c.3408+9C>G
|
rs377702890
|
0.00043
|
NM_000254.3(MTR):c.1080A>G (p.Leu360=)
|
rs141861479
|
0.00043
|
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)
|
rs141367100
|
0.00042
|
NM_000996.4(RPL35A):c.165-16C>A
|
rs373782117
|
0.00041
|
NM_005050.4(ABCD4):c.1118+9C>T
|
rs370581068
|
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_001081.4(CUBN):c.9826+15G>A
|
rs369467797
|
0.00040
|
NM_006363.6(SEC23B):c.519G>A (p.Val173=)
|
rs138314893
|
0.00040
|
NM_032444.4(SLX4):c.2160+18C>T
|
rs373726275
|
0.00040
|
NM_020937.4(FANCM):c.2127G>A (p.Gln709=)
|
rs141452622
|
0.00039
|
NM_000254.3(MTR):c.1977A>G (p.Lys659=)
|
rs144767461
|
0.00038
|
NM_001081.4(CUBN):c.9236+8A>G
|
rs372673718
|
0.00038
|
NM_005050.4(ABCD4):c.141G>C (p.Leu47Phe)
|
rs147446660
|
0.00038
|
NM_005050.4(ABCD4):c.1710G>T (p.Gly570=)
|
rs138862492
|
0.00038
|
NM_005236.3(ERCC4):c.1802A>C (p.Lys601Thr)
|
rs138532294
|
0.00038
|
NM_015506.3(MMACHC):c.691T>C (p.Leu231=)
|
rs373198842
|
0.00038
|
NM_030943.4(AMN):c.735C>T (p.Pro245=)
|
rs546245909
|
0.00038
|
NM_000096.4(CP):c.938C>T (p.Thr313Ile)
|
rs144401501
|
0.00037
|
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_005334.3(HCFC1):c.3903C>T (p.Thr1301=)
|
rs375212345
|
0.00037
|
NM_005334.3(HCFC1):c.4245G>A (p.Arg1415=)
|
rs782660801
|
0.00037
|
NM_000135.4(FANCA):c.3981C>T (p.His1327=)
|
rs141278771
|
0.00036
|
NM_000136.3(FANCC):c.457-18A>G
|
rs377206543
|
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_018062.4(FANCL):c.534A>G (p.Thr178=)
|
rs151181785
|
0.00036
|
NM_182916.3(TRNT1):c.513T>C (p.Asn171=)
|
rs190423145
|
0.00036
|
NM_206965.2(FTCD):c.774+18C>T
|
rs372987977
|
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_000975.5(RPL11):c.171C>G (p.Val57=)
|
rs149087936
|
0.00035
|
NM_001081.4(CUBN):c.5196C>T (p.Thr1732=)
|
rs182162293
|
0.00035
|
NM_001081.4(CUBN):c.7533+17G>A
|
rs374394291
|
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_005050.4(ABCD4):c.1498G>A (p.Ala500Thr)
|
rs150594251
|
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_182916.3(TRNT1):c.343-14G>A
|
rs373630283
|
0.00034
|
NM_206965.2(FTCD):c.1023C>T (p.Arg341=)
|
rs770019374
|
0.00034
|
NM_005236.3(ERCC4):c.1297T>C (p.Leu433=)
|
rs116615540
|
0.00033
|
NM_000355.4(TCN2):c.509G>A (p.Arg170Gln)
|
rs117353193
|
0.00032
|
NM_001081.4(CUBN):c.5424G>T (p.Val1808=)
|
rs148649437
|
0.00032
|
NM_001113378.2(FANCI):c.3947G>A (p.Gly1316Glu)
|
rs138461165
|
0.00032
|
NM_018062.4(FANCL):c.546C>T (p.Ser182=)
|
rs200679501
|
0.00032
|
NM_000289.6(PFKM):c.1611C>T (p.Asp537=)
|
rs764961084
|
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_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
|
rs144626884
|
0.00031
|
NM_001081.4(CUBN):c.9335T>C (p.Phe3112Ser)
|
rs150985118
|
0.00031
|
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=)
|
rs370784621
|
0.00031
|
NM_005334.3(HCFC1):c.5397C>A (p.Pro1799=)
|
rs201452496
|
0.00031
|
NM_006363.6(SEC23B):c.358G>A (p.Val120Met)
|
rs372784283
|
0.00031
|
NM_018368.4(LMBRD1):c.540A>G (p.Leu180=)
|
rs138374055
|
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_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_001081.4(CUBN):c.4701C>T (p.Tyr1567=)
|
rs113941731
|
0.00030
|
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=)
|
rs140160866
|
0.00030
|
NM_005050.4(ABCD4):c.1637-10G>A
|
rs201148020
|
0.00030
|
NM_005334.3(HCFC1):c.3117A>G (p.Gly1039=)
|
rs200145247
|
0.00030
|
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=)
|
rs199953428
|
0.00030
|
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys)
|
rs377405910
|
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_001081.4(CUBN):c.10834C>T (p.Arg3612Trp)
|
rs151134377
|
0.00029
|
NM_030943.4(AMN):c.1258-14C>G
|
rs767004707
|
0.00029
|
NM_032444.4(SLX4):c.3663G>A (p.Ala1221=)
|
rs760656992
|
0.00029
|
NM_182916.3(TRNT1):c.462T>G (p.Thr154=)
|
rs528296646
|
0.00029
|
NM_000135.4(FANCA):c.801T>C (p.Val267=)
|
rs55660936
|
0.00028
|
NM_000355.4(TCN2):c.257+16C>G
|
rs369577877
|
0.00028
|
NM_001081.4(CUBN):c.9664-9T>G
|
rs145383974
|
0.00028
|
NM_001113378.2(FANCI):c.158G>C (p.Gly53Ala)
|
rs149223439
|
0.00028
|
NM_004629.2(FANCG):c.1545C>T (p.Ala515=)
|
rs201422773
|
0.00028
|
NM_005334.3(HCFC1):c.4773A>G (p.Leu1591=)
|
rs782660181
|
0.00028
|
NM_006363.6(SEC23B):c.1335G>A (p.Thr445=)
|
rs146587686
|
0.00028
|
NM_006363.6(SEC23B):c.280-6T>C
|
rs370880370
|
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_005050.4(ABCD4):c.1083C>T (p.Cys361=)
|
rs377583331
|
0.00027
|
NM_005142.3(CBLIF):c.1074-10T>C
|
rs375549830
|
0.00027
|
NM_005236.3(ERCC4):c.211T>C (p.Tyr71His)
|
rs145315496
|
0.00027
|
NM_000096.4(CP):c.2554+14C>T
|
rs200965170
|
0.00026
|
NM_000096.4(CP):c.2565C>T (p.Leu855=)
|
rs781672409
|
0.00026
|
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)
|
rs138248569
|
0.00026
|
NM_000254.3(MTR):c.3035A>T (p.Asp1012Val)
|
rs201901663
|
0.00026
|
NM_000355.4(TCN2):c.903C>T (p.Tyr301=)
|
rs146036025
|
0.00026
|
NM_001018115.3(FANCD2):c.1766+16C>T
|
rs201040143
|
0.00026
|
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu)
|
rs200537125
|
0.00026
|
NM_001081.4(CUBN):c.2932C>A (p.His978Asn)
|
rs369981313
|
0.00026
|
NM_001113378.2(FANCI):c.1822-18C>T
|
rs373603139
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
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_001243177.4(ALDOA):c.962-20G>A
|
rs189723657
|
0.00025
|
NM_001360016.2(G6PD):c.1052-4G>A
|
rs372124193
|
0.00025
|
NM_002454.3(MTRR):c.906T>C (p.Asn302=)
|
rs144729918
|
0.00025
|
NM_015506.3(MMACHC):c.126G>A (p.Pro42=)
|
rs201112314
|
0.00025
|
NM_182916.3(TRNT1):c.148+14A>G
|
rs374743708
|
0.00025
|
NM_000096.4(CP):c.716A>T (p.Tyr239Phe)
|
rs145481253
|
0.00024
|
NM_000135.4(FANCA):c.2589C>A (p.Gly863=)
|
rs72807571
|
0.00024
|
NM_001081.4(CUBN):c.9927C>G (p.Val3309=)
|
rs202234356
|
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_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_182916.3(TRNT1):c.803-6C>T
|
rs183382145
|
0.00024
|
NM_206965.2(FTCD):c.600G>A (p.Ala200=)
|
rs147306849
|
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_005334.3(HCFC1):c.3459T>C (p.Thr1153=)
|
rs1259347673
|
0.00023
|
NM_005334.3(HCFC1):c.4266T>C (p.Cys1422=)
|
rs781802693
|
0.00023
|
NM_006363.6(SEC23B):c.2268C>T (p.Asp756=)
|
rs530834583
|
0.00023
|
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_000135.4(FANCA):c.3829-9G>A
|
rs776077648
|
0.00022
|
NM_000289.6(PFKM):c.1653+8C>T
|
rs369425921
|
0.00022
|
NM_000975.5(RPL11):c.102G>A (p.Thr34=)
|
rs199772693
|
0.00022
|
NM_001018115.3(FANCD2):c.3654A>G (p.Ala1218=)
|
rs556548817
|
0.00022
|
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=)
|
rs189314395
|
0.00022
|
NM_001113378.2(FANCI):c.3236C>T (p.Thr1079Met)
|
rs191202700
|
0.00022
|
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)
|
rs139901585
|
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_000096.4(CP):c.1104G>C (p.Gly368=)
|
rs142503847
|
0.00021
|
NM_000096.4(CP):c.1487A>G (p.Asn496Ser)
|
rs541708867
|
0.00021
|
NM_000096.4(CP):c.301A>G (p.Thr101Ala)
|
rs148041351
|
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_000254.3(MTR):c.1215G>A (p.Gln405=)
|
rs376048659
|
0.00021
|
NM_000289.6(PFKM):c.459C>T (p.Ser153=)
|
rs145519821
|
0.00021
|
NM_000355.4(TCN2):c.249C>T (p.Cys83=)
|
rs151327362
|
0.00021
|
NM_000355.4(TCN2):c.522C>T (p.Ser174=)
|
rs537115632
|
0.00021
|
NM_000975.5(RPL11):c.397-4A>G
|
rs371228733
|
0.00021
|
NM_001018115.3(FANCD2):c.696-18T>G
|
rs56083801
|
0.00021
|
NM_001081.4(CUBN):c.7508C>T (p.Pro2503Leu)
|
rs140983139
|
0.00021
|
NM_001081.4(CUBN):c.813C>T (p.Pro271=)
|
rs139348777
|
0.00021
|
NM_001081.4(CUBN):c.9455-13T>C
|
rs374390875
|
0.00021
|
NM_001113378.2(FANCI):c.3006+11C>T
|
rs372049835
|
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_006363.6(SEC23B):c.279+18A>T
|
rs769730409
|
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_032043.3(BRIP1):c.852C>T (p.Val284=)
|
rs144940449
|
0.00021
|
NM_000254.3(MTR):c.639T>C (p.Phe213=)
|
rs568734591
|
0.00020
|
NM_005334.3(HCFC1):c.4942+8C>T
|
rs1013019333
|
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_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_000254.3(MTR):c.1075+7C>T
|
rs202157685
|
0.00019
|
NM_000355.4(TCN2):c.1017C>G (p.Leu339=)
|
rs35997415
|
0.00019
|
NM_001018113.3(FANCB):c.1720T>A (p.Cys574Ser)
|
rs200303151
|
0.00019
|
NM_001081.4(CUBN):c.10038C>T (p.His3346=)
|
rs113079734
|
0.00019
|
NM_001081.4(CUBN):c.10293C>T (p.His3431=)
|
rs1266678482
|
0.00019
|
NM_001081.4(CUBN):c.5926+5G>A
|
rs143301088
|
0.00019
|
NM_001081.4(CUBN):c.8203G>T (p.Asp2735Tyr)
|
rs149802222
|
0.00019
|
NM_001081.4(CUBN):c.8412T>C (p.Gly2804=)
|
rs139990077
|
0.00019
|
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg)
|
rs138026584
|
0.00019
|
NM_001243177.4(ALDOA):c.426G>A (p.Ala142=)
|
rs772550893
|
0.00019
|
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser)
|
rs142957871
|
0.00019
|
NM_005050.4(ABCD4):c.1680C>T (p.Ser560=)
|
rs138753274
|
0.00019
|
NM_005142.3(CBLIF):c.964C>T (p.Leu322=)
|
rs142491344
|
0.00019
|
NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg)
|
rs201807738
|
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_182916.3(TRNT1):c.1057-5C>T
|
rs111642741
|
0.00019
|
NM_182916.3(TRNT1):c.482-16C>G
|
rs200787934
|
0.00019
|
NM_000355.4(TCN2):c.258-16A>G
|
rs374013099
|
0.00018
|
NM_000969.5(RPL5):c.141C>T (p.Pro47=)
|
rs150375325
|
0.00018
|
NM_000987.5(RPL26):c.342C>T (p.Asp114=)
|
rs137965122
|
0.00018
|
NM_001018115.3(FANCD2):c.2142G>A (p.Pro714=)
|
rs372215382
|
0.00018
|
NM_001081.4(CUBN):c.349-9T>C
|
rs375431948
|
0.00018
|
NM_002454.3(MTRR):c.904-4C>G
|
rs370809675
|
0.00018
|
NM_004629.2(FANCG):c.1144-17T>G
|
rs367794913
|
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_030943.4(AMN):c.989C>A (p.Ala330Glu)
|
rs542237999
|
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_206965.2(FTCD):c.1260+9C>T
|
rs373667711
|
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_000355.4(TCN2):c.940+11T>C
|
rs202139921
|
0.00017
|
NM_001081.4(CUBN):c.5796A>G (p.Glu1932=)
|
rs376536525
|
0.00017
|
NM_001081.4(CUBN):c.7000+15A>T
|
rs556690868
|
0.00017
|
NM_005334.3(HCFC1):c.3695G>A (p.Arg1232His)
|
rs201578135
|
0.00017
|
NM_006363.6(SEC23B):c.1809A>G (p.Ser603=)
|
rs139882548
|
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_033022.4(RPS24):c.90C>T (p.Pro30=)
|
rs372043585
|
0.00017
|
NM_058216.3(RAD51C):c.258A>T (p.Thr86=)
|
rs149228565
|
0.00017
|
NM_182916.3(TRNT1):c.482-3dup
|
rs766154756
|
0.00017
|
NM_206965.2(FTCD):c.1007G>T (p.Gly336Val)
|
rs540211579
|
0.00017
|
NM_000096.4(CP):c.261G>A (p.Pro87=)
|
rs142440055
|
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_000254.3(MTR):c.3252C>T (p.Asp1084=)
|
rs144429636
|
0.00016
|
NM_000254.3(MTR):c.3405+18C>T
|
rs374485228
|
0.00016
|
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
NM_001018115.3(FANCD2):c.1116C>T (p.Ala372=)
|
rs370078641
|
0.00016
|
NM_001081.4(CUBN):c.4740G>A (p.Thr1580=)
|
rs200115233
|
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_005050.4(ABCD4):c.1136C>T (p.Ala379Val)
|
rs149139488
|
0.00016
|
NM_005050.4(ABCD4):c.1539C>T (p.Asp513=)
|
rs201456625
|
0.00016
|
NM_005236.3(ERCC4):c.2427G>A (p.Thr809=)
|
rs2020960
|
0.00016
|
NM_006363.6(SEC23B):c.1527G>A (p.Gln509=)
|
rs201943863
|
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_018368.4(LMBRD1):c.1192T>C (p.Tyr398His)
|
rs185334169
|
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_030943.4(AMN):c.1343G>A (p.Gly448Glu)
|
rs777560818
|
0.00016
|
NM_032043.3(BRIP1):c.1872G>A (p.Ser624=)
|
rs145504336
|
0.00016
|
NM_058216.3(RAD51C):c.744T>C (p.Phe248=)
|
rs150142859
|
0.00016
|
NM_206965.2(FTCD):c.1206G>A (p.Ser402=)
|
rs376754467
|
0.00016
|
NM_206965.2(FTCD):c.1371G>A (p.Thr457=)
|
rs544253281
|
0.00016
|
NM_206965.2(FTCD):c.1448C>T (p.Ala483Val)
|
rs145609043
|
0.00016
|
NM_206965.2(FTCD):c.906+8G>A
|
rs375796852
|
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_001081.4(CUBN):c.5130C>T (p.Ser1710=)
|
rs750798030
|
0.00015
|
NM_001113378.2(FANCI):c.446-6T>G
|
rs377255054
|
0.00015
|
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=)
|
rs200081632
|
0.00015
|
NM_018368.4(LMBRD1):c.384T>C (p.Asp128=)
|
rs143642515
|
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_033022.4(RPS24):c.189T>C (p.His63=)
|
rs201805132
|
0.00015
|
NM_206965.2(FTCD):c.1443+12C>T
|
rs767969299
|
0.00015
|
NM_000096.4(CP):c.1458C>T (p.Asn486=)
|
rs144537170
|
0.00014
|
NM_000135.4(FANCA):c.3240-11C>G
|
rs138826926
|
0.00014
|
NM_000254.3(MTR):c.2474-19_2474-15del
|
rs781239294
|
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_001081.4(CUBN):c.1112-12A>G
|
rs762175932
|
0.00014
|
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met)
|
rs141420691
|
0.00014
|
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=)
|
rs370685424
|
0.00014
|
NM_001113378.2(FANCI):c.882+10A>G
|
rs370227185
|
0.00014
|
NM_001243177.4(ALDOA):c.961+12A>G
|
rs200733968
|
0.00014
|
NM_004629.2(FANCG):c.399G>A (p.Pro133=)
|
rs200278002
|
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_005334.3(HCFC1):c.1722C>T (p.Thr574=)
|
rs199916332
|
0.00014
|
NM_005334.3(HCFC1):c.3282C>T (p.Ala1094=)
|
rs372258214
|
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_030943.4(AMN):c.1086G>A (p.Ala362=)
|
rs959195796
|
0.00014
|
NM_030943.4(AMN):c.603C>A (p.Gly201=)
|
rs535197788
|
0.00014
|
NM_032043.3(BRIP1):c.595C>T (p.Leu199=)
|
rs144969738
|
0.00014
|
NM_000096.4(CP):c.93G>A (p.Thr31=)
|
rs201521886
|
0.00013
|
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)
|
rs200713354
|
0.00013
|
NM_000254.3(MTR):c.2043+10A>G
|
rs375005444
|
0.00013
|
NM_000254.3(MTR):c.2405+13C>T
|
rs761948163
|
0.00013
|
NM_000254.3(MTR):c.35-19A>G
|
rs372886393
|
0.00013
|
NM_000355.4(TCN2):c.428-15T>C
|
rs371761297
|
0.00013
|
NM_000355.4(TCN2):c.580+16C>T
|
rs200683293
|
0.00013
|
NM_001014.5(RPS10):c.351C>T (p.Leu117=)
|
rs376353902
|
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_001243177.4(ALDOA):c.922G>A (p.Val308Ile)
|
rs142759891
|
0.00013
|
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His)
|
rs201794043
|
0.00013
|
NM_001360016.2(G6PD):c.375G>C (p.Met125Ile)
|
rs782130334
|
0.00013
|
NM_001360016.2(G6PD):c.738C>T (p.Arg246=)
|
rs144341068
|
0.00013
|
NM_002454.3(MTRR):c.138A>G (p.Leu46=)
|
rs200682655
|
0.00013
|
NM_005050.4(ABCD4):c.775A>T (p.Thr259Ser)
|
rs201664321
|
0.00013
|
NM_005050.4(ABCD4):c.867C>T (p.Ile289=)
|
rs138775118
|
0.00013
|
NM_005334.3(HCFC1):c.1605+16T>G
|
rs375698764
|
0.00013
|
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp)
|
rs34258482
|
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_206965.2(FTCD):c.1614C>T (p.Thr538=)
|
rs138620208
|
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_000355.4(TCN2):c.500A>T (p.His167Leu)
|
rs200303429
|
0.00012
|
NM_001018115.3(FANCD2):c.378-4A>G
|
rs75087355
|
0.00012
|
NM_001081.4(CUBN):c.1236T>C (p.Thr412=)
|
rs201404467
|
0.00012
|
NM_001113378.2(FANCI):c.2646A>G (p.Leu882=)
|
rs199627578
|
0.00012
|
NM_001360016.2(G6PD):c.1458-12G>A
|
rs369024848
|
0.00012
|
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)
|
rs201652412
|
0.00012
|
NM_005334.3(HCFC1):c.3690G>A (p.Ala1230=)
|
rs782484757
|
0.00012
|
NM_005334.3(HCFC1):c.4263C>A (p.Pro1421=)
|
rs782566624
|
0.00012
|
NM_006363.6(SEC23B):c.2031G>A (p.Met677Ile)
|
rs202187007
|
0.00012
|
NM_032043.3(BRIP1):c.3069C>T (p.Leu1023=)
|
rs61754142
|
0.00012
|
NM_000096.4(CP):c.1493A>G (p.Gln498Arg)
|
rs17847018
|
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_000254.3(MTR):c.2658G>A (p.Ala886=)
|
rs142537384
|
0.00011
|
NM_000254.3(MTR):c.3204+9G>A
|
rs769109539
|
0.00011
|
NM_000289.6(PFKM):c.1063-5C>T
|
rs758178966
|
0.00011
|
NM_000289.6(PFKM):c.2121G>A (p.Ser707=)
|
rs370046842
|
0.00011
|
NM_000289.6(PFKM):c.638+15C>A
|
rs376150217
|
0.00011
|
NM_001018115.3(FANCD2):c.4281+81G>A
|
rs145889419
|
0.00011
|
NM_001081.4(CUBN):c.10729G>A (p.Ala3577Thr)
|
rs139051724
|
0.00011
|
NM_001081.4(CUBN):c.1926C>T (p.Asp642=)
|
rs201938886
|
0.00011
|
NM_001081.4(CUBN):c.1947+18G>A
|
rs374436643
|
0.00011
|
NM_001081.4(CUBN):c.9267C>T (p.Thr3089=)
|
rs200124646
|
0.00011
|
NM_001113378.2(FANCI):c.3114G>A (p.Ser1038=)
|
rs567952571
|
0.00011
|
NM_001360016.2(G6PD):c.121-20A>T
|
rs782444702
|
0.00011
|
NM_002454.3(MTRR):c.198C>T (p.Pro66=)
|
rs776410065
|
0.00011
|
NM_005050.4(ABCD4):c.555C>T (p.Leu185=)
|
rs188108983
|
0.00011
|
NM_005142.3(CBLIF):c.256+10C>T
|
rs369960390
|
0.00011
|
NM_005236.3(ERCC4):c.389-9C>A
|
rs369626998
|
0.00011
|
NM_005334.3(HCFC1):c.2955G>A (p.Pro985=)
|
rs182541172
|
0.00011
|
NM_005334.3(HCFC1):c.3596G>A (p.Arg1199Gln)
|
rs1273500868
|
0.00011
|
NM_006363.6(SEC23B):c.835-11C>T
|
rs370797703
|
0.00011
|
NM_015506.3(MMACHC):c.783G>A (p.Gly261=)
|
rs776623221
|
0.00011
|
NM_018062.4(FANCL):c.1020+15T>C
|
rs201733792
|
0.00011
|
NM_018368.4(LMBRD1):c.1189-15C>G
|
rs774156278
|
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_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_182916.3(TRNT1):c.148+17C>T
|
rs200220844
|
0.00011
|
NM_206965.2(FTCD):c.129C>T (p.Ser43=)
|
rs774812132
|
0.00011
|
NM_206965.2(FTCD):c.774+19G>A
|
rs369593831
|
0.00011
|
NM_000096.4(CP):c.929G>A (p.Arg310His)
|
rs202217551
|
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_000254.3(MTR):c.3552C>T (p.Thr1184=)
|
rs760793648
|
0.00010
|
NM_000254.3(MTR):c.866-10C>G
|
rs368755647
|
0.00010
|
NM_000355.4(TCN2):c.921A>C (p.Pro307=)
|
rs138738105
|
0.00010
|
NM_001011.4(RPS7):c.102G>A (p.Ser34=)
|
rs754617897
|
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_001081.4(CUBN):c.3084C>T (p.Ser1028=)
|
rs775668389
|
0.00010
|
NM_001081.4(CUBN):c.7000+14T>A
|
rs768710639
|
0.00010
|
NM_001081.4(CUBN):c.7211-17T>C
|
rs770229291
|
0.00010
|
NM_001081.4(CUBN):c.7299C>T (p.Asp2433=)
|
rs201002903
|
0.00010
|
NM_001113378.2(FANCI):c.2890-13C>T
|
rs377269890
|
0.00010
|
NM_001360016.2(G6PD):c.957C>T (p.Thr319=)
|
rs199702562
|
0.00010
|
NM_001360016.2(G6PD):c.990C>T (p.Arg330=)
|
rs782064465
|
0.00010
|
NM_002454.3(MTRR):c.904-19dup
|
rs1554003810
|
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_005050.4(ABCD4):c.1056G>A (p.Leu352=)
|
rs542032495
|
0.00010
|
NM_005236.3(ERCC4):c.1102+13G>T
|
rs199772721
|
0.00010
|
NM_005334.3(HCFC1):c.2643G>A (p.Thr881=)
|
rs368119827
|
0.00010
|
NM_015506.3(MMACHC):c.165G>A (p.Thr55=)
|
rs369883781
|
0.00010
|
NM_018062.4(FANCL):c.846A>G (p.Gln282=)
|
rs535158133
|
0.00010
|
NM_018368.4(LMBRD1):c.406-6A>C
|
rs373257303
|
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_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_000096.4(CP):c.720C>T (p.Cys240=)
|
rs141646117
|
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_000254.3(MTR):c.2013C>T (p.Val671=)
|
rs147141232
|
0.00009
|
NM_000254.3(MTR):c.2686C>T (p.Leu896=)
|
rs147762307
|
0.00009
|
NM_000289.6(PFKM):c.597C>T (p.His199=)
|
rs554169766
|
0.00009
|
NM_000289.6(PFKM):c.747+10C>T
|
rs1372921221
|
0.00009
|
NM_000355.4(TCN2):c.1056G>A (p.Gly352=)
|
rs370869901
|
0.00009
|
NM_001011.4(RPS7):c.357-10A>G
|
rs202032908
|
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_001081.4(CUBN):c.1111+5T>C
|
rs199662739
|
0.00009
|
NM_001081.4(CUBN):c.2961C>T (p.Asn987=)
|
rs148712017
|
0.00009
|
NM_001081.4(CUBN):c.3672+18A>C
|
rs752240965
|
0.00009
|
NM_001113378.2(FANCI):c.165C>T (p.Pro55=)
|
rs139039885
|
0.00009
|
NM_002454.3(MTRR):c.495C>T (p.Gly165=)
|
rs139333376
|
0.00009
|
NM_004629.2(FANCG):c.373_375dup (p.Val125dup)
|
rs750843326
|
0.00009
|
NM_005142.3(CBLIF):c.1074-3T>C
|
rs370833765
|
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_005334.3(HCFC1):c.1698G>A (p.Thr566=)
|
rs202099968
|
0.00009
|
NM_005334.3(HCFC1):c.1980C>T (p.Thr660=)
|
rs370251100
|
0.00009
|
NM_005334.3(HCFC1):c.3399A>G (p.Arg1133=)
|
rs782522290
|
0.00009
|
NM_006363.6(SEC23B):c.434A>G (p.Gln145Arg)
|
rs140466726
|
0.00009
|
NM_015506.3(MMACHC):c.462T>C (p.Phe154=)
|
rs199747998
|
0.00009
|
NM_015506.3(MMACHC):c.699A>G (p.Leu233=)
|
rs377439596
|
0.00009
|
NM_018062.4(FANCL):c.217-4C>A
|
rs369048526
|
0.00009
|
NM_018368.4(LMBRD1):c.1023C>T (p.Phe341=)
|
rs765215874
|
0.00009
|
NM_018368.4(LMBRD1):c.405+8T>C
|
rs375415974
|
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_030943.4(AMN):c.345G>A (p.Pro115=)
|
rs749947054
|
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_206965.2(FTCD):c.294C>T (p.Gly98=)
|
rs371214676
|
0.00009
|
NM_206965.2(FTCD):c.321C>T (p.Cys107=)
|
rs373447719
|
0.00009
|
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.4010+8C>T
|
rs763049986
|
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_000254.3(MTR):c.2196+19G>T
|
rs372533462
|
0.00008
|
NM_000254.3(MTR):c.3126C>T (p.Asp1042=)
|
rs529430607
|
0.00008
|
NM_000289.6(PFKM):c.1155C>T (p.Tyr385=)
|
rs146318448
|
0.00008
|
NM_000289.6(PFKM):c.1501-15C>T
|
rs756212415
|
0.00008
|
NM_000355.4(TCN2):c.210C>T (p.Asp70=)
|
rs148829072
|
0.00008
|
NM_000355.4(TCN2):c.424A>G (p.Ile142Val)
|
rs200771616
|
0.00008
|
NM_001014.5(RPS10):c.261G>A (p.Pro87=)
|
rs781484971
|
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_001022.4(RPS19):c.333A>G (p.Lys111=)
|
rs781845960
|
0.00008
|
NM_001022.4(RPS19):c.356+13G>C
|
rs781957086
|
0.00008
|
NM_001029.5(RPS26):c.63T>A (p.Ile21=)
|
rs148167449
|
0.00008
|
NM_001081.4(CUBN):c.5073C>G (p.Pro1691=)
|
rs200977290
|
0.00008
|
NM_001081.4(CUBN):c.7455G>A (p.Pro2485=)
|
rs144942741
|
0.00008
|
NM_001113378.2(FANCI):c.669+14A>G
|
rs369804967
|
0.00008
|
NM_001243177.4(ALDOA):c.275-5C>T
|
rs752764982
|
0.00008
|
NM_001360016.2(G6PD):c.1051+16G>A
|
rs782637386
|
0.00008
|
NM_001360016.2(G6PD):c.1405C>T (p.Leu469=)
|
rs369482861
|
0.00008
|
NM_002454.3(MTRR):c.1058-17C>T
|
rs754619256
|
0.00008
|
NM_002454.3(MTRR):c.129+10G>A
|
rs6413427
|
0.00008
|
NM_005142.3(CBLIF):c.829G>C (p.Gly277Arg)
|
rs138504371
|
0.00008
|
NM_005236.3(ERCC4):c.714G>A (p.Lys238=)
|
rs780166871
|
0.00008
|
NM_005334.3(HCFC1):c.1122C>T (p.Arg374=)
|
rs781840891
|
0.00008
|
NM_005334.3(HCFC1):c.1762A>G (p.Thr588Ala)
|
rs782762959
|
0.00008
|
NM_005334.3(HCFC1):c.3495G>C (p.Gln1165His)
|
rs373327413
|
0.00008
|
NM_015702.3(MMADHC):c.600C>T (p.Leu200=)
|
rs754142876
|
0.00008
|
NM_015702.3(MMADHC):c.610-12C>A
|
rs371855955
|
0.00008
|
NM_018062.4(FANCL):c.1124A>C (p.His375Pro)
|
rs545084971
|
0.00008
|
NM_018368.4(LMBRD1):c.378G>C (p.Lys126Asn)
|
rs200639044
|
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_030943.4(AMN):c.1258-8C>T
|
rs750073599
|
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_206965.2(FTCD):c.138C>T (p.Arg46=)
|
rs143498507
|
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_000254.3(MTR):c.3030C>T (p.Tyr1010=)
|
rs777595935
|
0.00007
|
NM_000254.3(MTR):c.558C>T (p.Gly186=)
|
rs139019399
|
0.00007
|
NM_000289.6(PFKM):c.594-18T>A
|
rs372899080
|
0.00007
|
NM_000355.4(TCN2):c.1236C>T (p.Tyr412=)
|
rs375447234
|
0.00007
|
NM_000996.4(RPL35A):c.12-18G>A
|
rs373448841
|
0.00007
|
NM_001014.5(RPS10):c.103C>T (p.Leu35=)
|
rs143557454
|
0.00007
|
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg)
|
rs201147592
|
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_001081.4(CUBN):c.5397T>C (p.Arg1799=)
|
rs147772422
|
0.00007
|
NM_001081.4(CUBN):c.7797C>T (p.Cys2599=)
|
rs138758085
|
0.00007
|
NM_001360016.2(G6PD):c.1052-19T>C
|
rs782238350
|
0.00007
|
NM_002454.3(MTRR):c.21A>G (p.Leu7=)
|
rs114427781
|
0.00007
|
NM_002454.3(MTRR):c.519A>G (p.Ala173=)
|
rs776844185
|
0.00007
|
NM_005050.4(ABCD4):c.447C>T (p.Asp149=)
|
rs143479125
|
0.00007
|
NM_005050.4(ABCD4):c.504G>A (p.Pro168=)
|
rs753233201
|
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_005334.3(HCFC1):c.3892G>A (p.Glu1298Lys)
|
rs781949446
|
0.00007
|
NM_005334.3(HCFC1):c.4911G>A (p.Ala1637=)
|
rs374047752
|
0.00007
|
NM_006363.6(SEC23B):c.1884C>T (p.Tyr628=)
|
rs766473215
|
0.00007
|
NM_015702.3(MMADHC):c.513C>G (p.Gly171=)
|
rs373384350
|
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_182916.3(TRNT1):c.1057-4G>A
|
rs150530824
|
0.00007
|
NM_206965.2(FTCD):c.1304+20C>T
|
rs756710291
|
0.00007
|
NM_206965.2(FTCD):c.906+7C>T
|
rs376001900
|
0.00007
|
NM_000096.4(CP):c.1548C>T (p.Thr516=)
|
rs184516720
|
0.00006
|
NM_000096.4(CP):c.1714-20C>T
|
rs367695920
|
0.00006
|
NM_000096.4(CP):c.2952G>A (p.Leu984=)
|
rs752058749
|
0.00006
|
NM_000096.4(CP):c.3183C>T (p.Asp1061=)
|
rs184845153
|
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.3766-14G>A
|
rs34476949
|
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_000254.3(MTR):c.502+13C>T
|
rs201647375
|
0.00006
|
NM_000254.3(MTR):c.996-20T>C
|
rs772967310
|
0.00006
|
NM_000289.6(PFKM):c.238-17T>A
|
rs377146498
|
0.00006
|
NM_000355.4(TCN2):c.1110T>C (p.Tyr370=)
|
rs369589347
|
0.00006
|
NM_000355.4(TCN2):c.257+13T>A
|
rs375247830
|
0.00006
|
NM_000355.4(TCN2):c.64+13C>T
|
rs370228236
|
0.00006
|
NM_000975.5(RPL11):c.158-7C>T
|
rs768654673
|
0.00006
|
NM_000975.5(RPL11):c.300A>G (p.Ser100=)
|
rs372622822
|
0.00006
|
NM_000975.5(RPL11):c.378C>T (p.Tyr126=)
|
rs774450430
|
0.00006
|
NM_001011.4(RPS7):c.148-6C>T
|
rs533287773
|
0.00006
|
NM_001011.4(RPS7):c.75+13C>T
|
rs751796318
|
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_001022.4(RPS19):c.183G>A (p.Ala61=)
|
rs782727047
|
0.00006
|
NM_001022.4(RPS19):c.411+19G>T
|
rs782394063
|
0.00006
|
NM_001022.4(RPS19):c.71+19G>A
|
rs377615364
|
0.00006
|
NM_001022.4(RPS19):c.75C>G (p.Ser25=)
|
rs370343297
|
0.00006
|
NM_001081.4(CUBN):c.348+10A>G
|
rs373954000
|
0.00006
|
NM_001081.4(CUBN):c.735C>T (p.Cys245=)
|
rs766772944
|
0.00006
|
NM_001081.4(CUBN):c.8613T>G (p.Thr2871=)
|
rs775837120
|
0.00006
|
NM_001081.4(CUBN):c.879A>G (p.Pro293=)
|
rs142466038
|
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_001243177.4(ALDOA):c.1107C>T (p.Gly369=)
|
rs142315181
|
0.00006
|
NM_001360016.2(G6PD):c.1014A>G (p.Ala338=)
|
rs1401465965
|
0.00006
|
NM_001360016.2(G6PD):c.1272C>T (p.Tyr424=)
|
rs186843026
|
0.00006
|
NM_001360016.2(G6PD):c.795G>A (p.Leu265=)
|
rs374222477
|
0.00006
|
NM_002049.4(GATA1):c.480T>C (p.Asn160=)
|
rs143332634
|
0.00006
|
NM_002454.3(MTRR):c.1370+18C>T
|
rs374485961
|
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_005050.4(ABCD4):c.1518G>A (p.Val506=)
|
rs372838114
|
0.00006
|
NM_005050.4(ABCD4):c.1716G>A (p.Thr572=)
|
rs776137988
|
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_005334.3(HCFC1):c.1084+8C>T
|
rs367698803
|
0.00006
|
NM_005334.3(HCFC1):c.1803+7G>A
|
rs782241441
|
0.00006
|
NM_015506.3(MMACHC):c.315C>T (p.Tyr105=)
|
rs528744719
|
0.00006
|
NM_015506.3(MMACHC):c.458G>A (p.Arg153Gln)
|
rs200276195
|
0.00006
|
NM_015506.3(MMACHC):c.821T>C (p.Val274Ala)
|
rs569132013
|
0.00006
|
NM_015702.3(MMADHC):c.510T>C (p.Asn170=)
|
rs745423033
|
0.00006
|
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)
|
rs147318949
|
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_018368.4(LMBRD1):c.1410T>G (p.Ala470=)
|
rs761693513
|
0.00006
|
NM_018368.4(LMBRD1):c.637-13G>A
|
rs776621535
|
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_030943.4(AMN):c.45A>C (p.Ala15=)
|
rs753339887
|
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_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_182916.3(TRNT1):c.149-19T>G
|
rs3762748
|
0.00006
|
NM_206965.2(FTCD):c.117C>T (p.Asp39=)
|
rs751420192
|
0.00006
|
NM_206965.2(FTCD):c.1539+16G>T
|
rs200000573
|
0.00006
|
NM_206965.2(FTCD):c.285C>T (p.Pro95=)
|
rs572661766
|
0.00006
|
NM_206965.2(FTCD):c.296T>C (p.Val99Ala)
|
rs374097903
|
0.00006
|
NM_206965.2(FTCD):c.63C>T (p.Asp21=)
|
rs775067212
|
0.00006
|
NM_000096.4(CP):c.1131C>T (p.Ala377=)
|
rs150733154
|
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_000254.3(MTR):c.2235C>T (p.Gly745=)
|
rs1453742538
|
0.00005
|
NM_000254.3(MTR):c.2994C>T (p.Asn998=)
|
rs778549407
|
0.00005
|
NM_000254.3(MTR):c.3384G>A (p.Ala1128=)
|
rs767454577
|
0.00005
|
NM_000254.3(MTR):c.759A>C (p.Pro253=)
|
rs752365220
|
0.00005
|
NM_000289.6(PFKM):c.1127+13C>T
|
rs376042142
|
0.00005
|
NM_000289.6(PFKM):c.1212T>C (p.Ala404=)
|
rs1203272613
|
0.00005
|
NM_000289.6(PFKM):c.1476C>T (p.Gly492=)
|
rs200847712
|
0.00005
|
NM_000289.6(PFKM):c.2085C>T (p.Tyr695=)
|
rs745739278
|
0.00005
|
NM_000289.6(PFKM):c.2253C>A (p.Ile751=)
|
rs370779782
|
0.00005
|
NM_000289.6(PFKM):c.327G>A (p.Gly109=)
|
rs751902983
|
0.00005
|
NM_000355.4(TCN2):c.1053C>T (p.Ala351=)
|
rs142555281
|
0.00005
|
NM_000355.4(TCN2):c.1272G>A (p.Leu424=)
|
rs560391371
|
0.00005
|
NM_000355.4(TCN2):c.279C>T (p.Asp93=)
|
rs138467610
|
0.00005
|
NM_000969.5(RPL5):c.228C>T (p.Cys76=)
|
rs370284124
|
0.00005
|
NM_000987.5(RPL26):c.288C>T (p.His96=)
|
rs573206384
|
0.00005
|
NM_000996.4(RPL35A):c.12-5C>G
|
rs541454864
|
0.00005
|
NM_001011.4(RPS7):c.543G>A (p.Thr181=)
|
rs776954129
|
0.00005
|
NM_001014.5(RPS10):c.111C>G (p.Asp37Glu)
|
rs374314919
|
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_001022.4(RPS19):c.357-17C>T
|
rs782356785
|
0.00005
|
NM_001029.5(RPS26):c.60T>A (p.Pro20=)
|
rs368838700
|
0.00005
|
NM_001081.4(CUBN):c.4092C>G (p.Ser1364=)
|
rs199763912
|
0.00005
|
NM_001081.4(CUBN):c.7300G>A (p.Gly2434Ser)
|
rs144565631
|
0.00005
|
NM_001081.4(CUBN):c.7470C>T (p.Ile2490=)
|
rs779269108
|
0.00005
|
NM_001081.4(CUBN):c.7899C>T (p.Leu2633=)
|
rs751019710
|
0.00005
|
NM_001081.4(CUBN):c.9315C>T (p.Ser3105=)
|
rs376662992
|
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_001243177.4(ALDOA):c.1002G>A (p.Ala334=)
|
rs532473202
|
0.00005
|
NM_001243177.4(ALDOA):c.585C>T (p.Asp195=)
|
rs150741747
|
0.00005
|
NM_001360016.2(G6PD):c.1065C>T (p.Ile355=)
|
rs1557229753
|
0.00005
|
NM_001360016.2(G6PD):c.1191C>T (p.Asn397=)
|
rs781798712
|
0.00005
|
NM_001360016.2(G6PD):c.207C>T (p.Gly69=)
|
rs782770344
|
0.00005
|
NM_001360016.2(G6PD):c.696C>T (p.Cys232=)
|
rs782061495
|
0.00005
|
NM_001360016.2(G6PD):c.865-16C>T
|
rs199970830
|
0.00005
|
NM_001360016.2(G6PD):c.972C>T (p.Asp324=)
|
rs782534709
|
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_005050.4(ABCD4):c.1495T>C (p.Leu499=)
|
rs561519173
|
0.00005
|
NM_005050.4(ABCD4):c.249A>G (p.Thr83=)
|
rs773214307
|
0.00005
|
NM_005334.3(HCFC1):c.1317G>A (p.Pro439=)
|
rs781810369
|
0.00005
|
NM_005334.3(HCFC1):c.2436G>A (p.Ala812=)
|
rs1459988694
|
0.00005
|
NM_005334.3(HCFC1):c.3255G>A (p.Thr1085=)
|
rs782017804
|
0.00005
|
NM_005334.3(HCFC1):c.4218G>A (p.Ala1406=)
|
rs782670703
|
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_018368.4(LMBRD1):c.474-20A>G
|
rs952976480
|
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_030943.4(AMN):c.175C>T (p.Leu59=)
|
rs199629027
|
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_182916.3(TRNT1):c.975T>C (p.Phe325=)
|
rs372604723
|
0.00005
|
NM_000096.4(CP):c.1437G>A (p.Gly479=)
|
rs200883005
|
0.00004
|
NM_000096.4(CP):c.1899T>C (p.Gly633=)
|
rs147192657
|
0.00004
|
NM_000096.4(CP):c.2142T>C (p.Thr714=)
|
rs61734460
|
0.00004
|
NM_000096.4(CP):c.623A>G (p.Glu208Gly)
|
rs200933607
|
0.00004
|
NM_000096.4(CP):c.750C>T (p.Asn250=)
|
rs753021289
|
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.3828+10A>G
|
rs368372404
|
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_000254.3(MTR):c.1086C>G (p.Pro362=)
|
rs779393795
|
0.00004
|
NM_000254.3(MTR):c.1128G>A (p.Glu376=)
|
rs759636736
|
0.00004
|
NM_000254.3(MTR):c.1542A>T (p.Arg514Ser)
|
rs200479834
|
0.00004
|
NM_000254.3(MTR):c.1722T>C (p.Ser574=)
|
rs142857114
|
0.00004
|
NM_000254.3(MTR):c.2328G>T (p.Val776=)
|
rs980038551
|
0.00004
|
NM_000254.3(MTR):c.2474-20T>A
|
rs377347275
|
0.00004
|
NM_000254.3(MTR):c.2718T>C (p.Phe906=)
|
rs371962565
|
0.00004
|
NM_000254.3(MTR):c.996-5C>T
|
rs914525473
|
0.00004
|
NM_000289.6(PFKM):c.1044C>G (p.Leu348=)
|
rs749882480
|
0.00004
|
NM_000289.6(PFKM):c.1063-18G>A
|
rs531023136
|
0.00004
|
NM_000289.6(PFKM):c.1063-19C>T
|
rs772630501
|
0.00004
|
NM_000289.6(PFKM):c.1320C>T (p.Phe440=)
|
rs540444775
|
0.00004
|
NM_000289.6(PFKM):c.1770C>T (p.Ala590=)
|
rs751097669
|
0.00004
|
NM_000289.6(PFKM):c.1956C>T (p.Phe652=)
|
rs771733776
|
0.00004
|
NM_000289.6(PFKM):c.468G>C (p.Leu156=)
|
rs772301967
|
0.00004
|
NM_000289.6(PFKM):c.978G>A (p.Glu326=)
|
rs550083752
|
0.00004
|
NM_000355.4(TCN2):c.114C>T (p.Leu38=)
|
rs377673954
|
0.00004
|
NM_000355.4(TCN2):c.225C>T (p.Ser75=)
|
rs776322424
|
0.00004
|
NM_000355.4(TCN2):c.282T>C (p.Gly94=)
|
rs766893729
|
0.00004
|
NM_000969.5(RPL5):c.403A>G (p.Ile135Val)
|
rs200075817
|
0.00004
|
NM_000969.5(RPL5):c.781G>C (p.Val261Leu)
|
rs773839391
|
0.00004
|
NM_000975.5(RPL11):c.117G>A (p.Val39=)
|
rs746752024
|
0.00004
|
NM_000975.5(RPL11):c.6+16C>T
|
rs369905301
|
0.00004
|
NM_000975.5(RPL11):c.6+8G>C
|
rs201469553
|
0.00004
|
NM_000987.5(RPL26):c.169-5C>G
|
rs746381469
|
0.00004
|
NM_001011.4(RPS7):c.285C>T (p.Ile95=)
|
rs368931076
|
0.00004
|
NM_001011.4(RPS7):c.435C>T (p.Arg145=)
|
rs142207795
|
0.00004
|
NM_001014.5(RPS10):c.400+17C>G
|
rs766650777
|
0.00004
|
NM_001014.5(RPS10):c.432T>G (p.Ala144=)
|
rs199758134
|
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_001022.4(RPS19):c.192G>C (p.Leu64=)
|
rs144069838
|
0.00004
|
NM_001022.4(RPS19):c.6T>G (p.Pro2=)
|
rs782512026
|
0.00004
|
NM_001029.5(RPS26):c.270A>G (p.Glu90=)
|
rs139056836
|
0.00004
|
NM_001081.4(CUBN):c.2013A>G (p.Pro671=)
|
rs137892259
|
0.00004
|
NM_001081.4(CUBN):c.2256C>T (p.His752=)
|
rs140150973
|
0.00004
|
NM_001081.4(CUBN):c.2923G>A (p.Glu975Lys)
|
rs199835213
|
0.00004
|
NM_001081.4(CUBN):c.3672+20C>T
|
rs762191994
|
0.00004
|
NM_001081.4(CUBN):c.5223G>A (p.Thr1741=)
|
rs375723034
|
0.00004
|
NM_001081.4(CUBN):c.5549-5C>T
|
rs377583171
|
0.00004
|
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=)
|
rs539618523
|
0.00004
|
NM_001081.4(CUBN):c.6822-6C>T
|
rs762758607
|
0.00004
|
NM_001081.4(CUBN):c.7001-4G>A
|
rs886046871
|
0.00004
|
NM_001081.4(CUBN):c.7107G>A (p.Gly2369=)
|
rs145537365
|
0.00004
|
NM_001081.4(CUBN):c.8599-8C>T
|
rs199774490
|
0.00004
|
NM_001081.4(CUBN):c.885C>T (p.Gly295=)
|
rs776211726
|
0.00004
|
NM_001081.4(CUBN):c.9525G>A (p.Ser3175=)
|
rs199499934
|
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_001243177.4(ALDOA):c.1161+8T>C
|
rs751467136
|
0.00004
|
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)
|
rs779556052
|
0.00004
|
NM_001243177.4(ALDOA):c.591T>C (p.Ala197=)
|
rs751360534
|
0.00004
|
NM_001243177.4(ALDOA):c.609T>C (p.Arg203=)
|
rs765883841
|
0.00004
|
NM_001243177.4(ALDOA):c.921C>T (p.Thr307=)
|
rs148503847
|
0.00004
|
NM_001360016.2(G6PD):c.121-13C>T
|
rs782558415
|
0.00004
|
NM_001360016.2(G6PD):c.1287+18A>G
|
rs782133149
|
0.00004
|
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=)
|
rs138919671
|
0.00004
|
NM_001360016.2(G6PD):c.268-11G>A
|
rs781983059
|
0.00004
|
NM_001360016.2(G6PD):c.435C>T (p.Thr145=)
|
rs1451145498
|
0.00004
|
NM_001360016.2(G6PD):c.771-8G>A
|
rs368790003
|
0.00004
|
NM_001360016.2(G6PD):c.813G>A (p.Val271=)
|
rs782732134
|
0.00004
|
NM_002049.4(GATA1):c.621C>T (p.Cys207=)
|
rs782785151
|
0.00004
|
NM_002049.4(GATA1):c.870+8C>T
|
rs370706809
|
0.00004
|
NM_002454.3(MTRR):c.1095T>C (p.Ser365=)
|
rs1490381537
|
0.00004
|
NM_002454.3(MTRR):c.1147-16G>A
|
rs143842562
|
0.00004
|
NM_002454.3(MTRR):c.1362G>A (p.Ser454=)
|
rs370978510
|
0.00004
|
NM_002454.3(MTRR):c.1557+18T>C
|
rs367589908
|
0.00004
|
NM_002454.3(MTRR):c.1677-8C>T
|
rs750976454
|
0.00004
|
NM_002454.3(MTRR):c.1677-9T>C
|
rs200734299
|
0.00004
|
NM_002454.3(MTRR):c.1944T>C (p.Tyr648=)
|
rs143418731
|
0.00004
|
NM_002454.3(MTRR):c.2073C>T (p.Arg691=)
|
rs768387137
|
0.00004
|
NM_002454.3(MTRR):c.27T>C (p.Ala9=)
|
rs114748706
|
0.00004
|
NM_002454.3(MTRR):c.283+13C>G
|
rs368391537
|
0.00004
|
NM_002454.3(MTRR):c.402-19G>A
|
rs192942300
|
0.00004
|
NM_002454.3(MTRR):c.507G>C (p.Val169=)
|
rs367609729
|
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_005050.4(ABCD4):c.1327+8C>T
|
rs199678602
|
0.00004
|
NM_005050.4(ABCD4):c.1752+7G>A
|
rs376322555
|
0.00004
|
NM_005050.4(ABCD4):c.699G>A (p.Ala233=)
|
rs139683556
|
0.00004
|
NM_005050.4(ABCD4):c.998C>T (p.Thr333Met)
|
rs181943870
|
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_005334.3(HCFC1):c.3279C>T (p.Thr1093=)
|
rs782250826
|
0.00004
|
NM_005334.3(HCFC1):c.4182G>A (p.Ala1394=)
|
rs782820533
|
0.00004
|
NM_005334.3(HCFC1):c.4475C>G (p.Pro1492Arg)
|
rs782407440
|
0.00004
|
NM_005334.3(HCFC1):c.4806C>T (p.Leu1602=)
|
rs923295564
|
0.00004
|
NM_005334.3(HCFC1):c.4947C>T (p.Thr1649=)
|
rs1422949741
|
0.00004
|
NM_005334.3(HCFC1):c.5423A>G (p.Lys1808Arg)
|
rs1342469676
|
0.00004
|
NM_005334.3(HCFC1):c.984C>T (p.Val328=)
|
rs782409511
|
0.00004
|
NM_006363.6(SEC23B):c.1491C>T (p.Arg497=)
|
rs778443189
|
0.00004
|
NM_015506.3(MMACHC):c.402T>C (p.Asp134=)
|
rs774024065
|
0.00004
|
NM_015506.3(MMACHC):c.423G>C (p.Gly141=)
|
rs1035201847
|
0.00004
|
NM_015506.3(MMACHC):c.42C>T (p.Asp14=)
|
rs141562335
|
0.00004
|
NM_015506.3(MMACHC):c.700T>C (p.Leu234=)
|
rs199964843
|
0.00004
|
NM_015702.3(MMADHC):c.696+13C>A
|
rs199528296
|
0.00004
|
NM_018062.4(FANCL):c.155+7T>C
|
rs200849840
|
0.00004
|
NM_018368.4(LMBRD1):c.1206A>G (p.Arg402=)
|
rs779802824
|
0.00004
|
NM_018368.4(LMBRD1):c.1389A>G (p.Pro463=)
|
rs751525924
|
0.00004
|
NM_018368.4(LMBRD1):c.297C>T (p.Tyr99=)
|
rs139154326
|
0.00004
|
NM_018368.4(LMBRD1):c.562+19A>T
|
rs200488577
|
0.00004
|
NM_018368.4(LMBRD1):c.918C>T (p.Ile306=)
|
rs766287809
|
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_030943.4(AMN):c.1176G>A (p.Arg392=)
|
rs1052377523
|
0.00004
|
NM_030943.4(AMN):c.123C>G (p.Thr41=)
|
rs758005290
|
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_033022.4(RPS24):c.276A>T (p.Ala92=)
|
rs763876559
|
0.00004
|
NM_033022.4(RPS24):c.391-14C>T
|
rs201639485
|
0.00004
|
NM_033022.4(RPS24):c.69+10G>A
|
rs767375848
|
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_182916.3(TRNT1):c.1026A>G (p.Pro342=)
|
rs767388512
|
0.00004
|
NM_182916.3(TRNT1):c.149-5C>T
|
rs200056840
|
0.00004
|
NM_182916.3(TRNT1):c.171C>T (p.His57=)
|
rs760080058
|
0.00004
|
NM_182916.3(TRNT1):c.630C>T (p.Asp210=)
|
rs143629126
|
0.00004
|
NM_182916.3(TRNT1):c.759T>C (p.His253=)
|
rs373038908
|
0.00004
|
NM_206965.2(FTCD):c.1305-15T>C
|
rs767156404
|
0.00004
|
NM_206965.2(FTCD):c.1380G>A (p.Ser460=)
|
rs750312666
|
0.00004
|
NM_206965.2(FTCD):c.238+13G>A
|
rs747108135
|
0.00004
|
NM_206965.2(FTCD):c.249C>A (p.Pro83=)
|
rs773177344
|
0.00004
|
NM_000096.4(CP):c.1209-10C>T
|
rs1553762033
|
0.00003
|
NM_000096.4(CP):c.1575A>G (p.Val525=)
|
rs760634973
|
0.00003
|
NM_000096.4(CP):c.1939T>A (p.Phe647Ile)
|
rs755977561
|
0.00003
|
NM_000096.4(CP):c.1944C>T (p.Ser648=)
|
rs376272235
|
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_000254.3(MTR):c.1275A>G (p.Pro425=)
|
rs202147344
|
0.00003
|
NM_000254.3(MTR):c.2043+18G>C
|
rs763911562
|
0.00003
|
NM_000254.3(MTR):c.2473+14A>G
|
rs193210789
|
0.00003
|
NM_000254.3(MTR):c.2474-19_2474-18insA
|
rs777429098
|
0.00003
|
NM_000254.3(MTR):c.3135C>T (p.His1045=)
|
rs775738419
|
0.00003
|
NM_000254.3(MTR):c.3636T>C (p.Ala1212=)
|
rs767100856
|
0.00003
|
NM_000289.6(PFKM):c.1127+10T>C
|
rs759084382
|
0.00003
|
NM_000289.6(PFKM):c.1158G>A (p.Lys386=)
|
rs1216904332
|
0.00003
|
NM_000289.6(PFKM):c.1311T>C (p.His437=)
|
rs369182995
|
0.00003
|
NM_000289.6(PFKM):c.1413-20C>T
|
rs771066629
|
0.00003
|
NM_000289.6(PFKM):c.2092+17C>T
|
rs773403779
|
0.00003
|
NM_000289.6(PFKM):c.2092+9G>T
|
rs371778846
|
0.00003
|
NM_000289.6(PFKM):c.2233C>T (p.Leu745=)
|
rs771535478
|
0.00003
|
NM_000289.6(PFKM):c.2265C>T (p.Tyr755=)
|
rs374418157
|
0.00003
|
NM_000355.4(TCN2):c.1107-10C>T
|
rs764096609
|
0.00003
|
NM_000355.4(TCN2):c.753+13C>A
|
rs771453023
|
0.00003
|
NM_000355.4(TCN2):c.882C>T (p.Pro294=)
|
rs142689742
|
0.00003
|
NM_000996.4(RPL35A):c.184G>T (p.Gly62Cys)
|
rs146882967
|
0.00003
|
NM_000996.4(RPL35A):c.327G>A (p.Arg109=)
|
rs754407977
|
0.00003
|
NM_001011.4(RPS7):c.63C>T (p.Ser21=)
|
rs145376788
|
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_001022.4(RPS19):c.255C>T (p.Asn85=)
|
rs781860325
|
0.00003
|
NM_001022.4(RPS19):c.372A>T (p.Thr124=)
|
rs782722836
|
0.00003
|
NM_001029.5(RPS26):c.181+10T>G
|
rs201191387
|
0.00003
|
NM_001081.4(CUBN):c.10710A>G (p.Thr3570=)
|
rs756639822
|
0.00003
|
NM_001081.4(CUBN):c.10845C>T (p.Ser3615=)
|
rs146137990
|
0.00003
|
NM_001081.4(CUBN):c.387+13C>T
|
rs766779196
|
0.00003
|
NM_001081.4(CUBN):c.4169-16C>T
|
rs779680778
|
0.00003
|
NM_001081.4(CUBN):c.4773C>T (p.Val1591=)
|
rs368529044
|
0.00003
|
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=)
|
rs199509575
|
0.00003
|
NM_001081.4(CUBN):c.5877G>A (p.Glu1959=)
|
rs368934375
|
0.00003
|
NM_001081.4(CUBN):c.6195T>C (p.Thr2065=)
|
rs758743854
|
0.00003
|
NM_001081.4(CUBN):c.7026G>A (p.Gly2342=)
|
rs370800945
|
0.00003
|
NM_001081.4(CUBN):c.8493T>C (p.Cys2831=)
|
rs748450206
|
0.00003
|
NM_001081.4(CUBN):c.9897A>G (p.Pro3299=)
|
rs143405367
|
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_001243177.4(ALDOA):c.487-9C>T
|
rs1057523259
|
0.00003
|
NM_001243177.4(ALDOA):c.945G>C (p.Val315=)
|
rs780658545
|
0.00003
|
NM_001360016.2(G6PD):c.1023C>T (p.Val341=)
|
rs201321423
|
0.00003
|
NM_001360016.2(G6PD):c.1051+11C>G
|
rs1258960910
|
0.00003
|
NM_001360016.2(G6PD):c.1068G>A (p.Leu356=)
|
rs368898047
|
0.00003
|
NM_001360016.2(G6PD):c.1131C>T (p.Ala377=)
|
rs782432107
|
0.00003
|
NM_001360016.2(G6PD):c.1356C>T (p.Phe452=)
|
rs370808115
|
0.00003
|
NM_001360016.2(G6PD):c.1365-7C>T
|
rs1168711308
|
0.00003
|
NM_001360016.2(G6PD):c.1482G>A (p.Glu494=)
|
rs1230419397
|
0.00003
|
NM_001360016.2(G6PD):c.158+13C>T
|
rs990745079
|
0.00003
|
NM_001360016.2(G6PD):c.644+20G>A
|
rs782108377
|
0.00003
|
NM_001360016.2(G6PD):c.645-7C>T
|
rs782468778
|
0.00003
|
NM_001360016.2(G6PD):c.864+14C>T
|
rs782416820
|
0.00003
|
NM_002049.4(GATA1):c.220+17G>T
|
rs782352992
|
0.00003
|
NM_002049.4(GATA1):c.237A>G (p.Pro79=)
|
rs1557020162
|
0.00003
|
NM_002049.4(GATA1):c.266G>A (p.Gly89Glu)
|
rs781920985
|
0.00003
|
NM_002454.3(MTRR):c.1080A>C (p.Ile360=)
|
rs969738618
|
0.00003
|
NM_002454.3(MTRR):c.1188T>C (p.Ala396=)
|
rs763760088
|
0.00003
|
NM_002454.3(MTRR):c.1287C>T (p.Leu429=)
|
rs551079367
|
0.00003
|
NM_002454.3(MTRR):c.402-20C>T
|
rs565590605
|
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_005050.4(ABCD4):c.1028+9G>A
|
rs982830151
|
0.00003
|
NM_005050.4(ABCD4):c.1422G>T (p.Val474=)
|
rs763882047
|
0.00003
|
NM_005050.4(ABCD4):c.24C>G (p.Pro8=)
|
rs371692280
|
0.00003
|
NM_005050.4(ABCD4):c.425+7G>A
|
rs375608814
|
0.00003
|
NM_005142.3(CBLIF):c.1221C>T (p.His407=)
|
rs148989677
|
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_005334.3(HCFC1):c.1214C>T (p.Thr405Met)
|
rs782047045
|
0.00003
|
NM_005334.3(HCFC1):c.1842C>T (p.Ala614=)
|
rs782036588
|
0.00003
|
NM_005334.3(HCFC1):c.2154G>A (p.Ala718=)
|
rs201614319
|
0.00003
|
NM_005334.3(HCFC1):c.2566C>T (p.Leu856=)
|
rs1603296223
|
0.00003
|
NM_005334.3(HCFC1):c.333C>T (p.Tyr111=)
|
rs782099695
|
0.00003
|
NM_005334.3(HCFC1):c.3846G>A (p.Ser1282=)
|
rs372301724
|
0.00003
|
NM_005334.3(HCFC1):c.3951C>T (p.Cys1317=)
|
rs781889604
|
0.00003
|
NM_005334.3(HCFC1):c.4041T>G (p.Gly1347=)
|
rs782457287
|
0.00003
|
NM_005334.3(HCFC1):c.4815G>A (p.Thr1605=)
|
rs782313635
|
0.00003
|
NM_005334.3(HCFC1):c.504-9C>T
|
rs781961920
|
0.00003
|
NM_005334.3(HCFC1):c.5613C>T (p.Ala1871=)
|
rs1557112253
|
0.00003
|
NM_005334.3(HCFC1):c.5848C>A (p.Arg1950=)
|
rs369626014
|
0.00003
|
NM_015506.3(MMACHC):c.156A>G (p.Val52=)
|
rs763931975
|
0.00003
|
NM_015506.3(MMACHC):c.326C>T (p.Pro109Leu)
|
rs747214324
|
0.00003
|
NM_015506.3(MMACHC):c.82-10T>C
|
rs778416032
|
0.00003
|
NM_015506.3(MMACHC):c.831T>C (p.Pro277=)
|
rs1322086708
|
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_018368.4(LMBRD1):c.417G>A (p.Thr139=)
|
rs934259733
|
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_030943.4(AMN):c.1179G>A (p.Arg393=)
|
rs1434288624
|
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_033022.4(RPS24):c.12C>T (p.Thr4=)
|
rs769340744
|
0.00003
|
NM_033022.4(RPS24):c.21C>T (p.Ile7=)
|
rs762233086
|
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_182916.3(TRNT1):c.482-9A>G
|
rs766414708
|
0.00003
|
NM_182916.3(TRNT1):c.780T>C (p.Asp260=)
|
rs150433086
|
0.00003
|
NM_206965.2(FTCD):c.456+13C>T
|
rs377758230
|
0.00003
|
NM_000096.4(CP):c.1422T>C (p.Ser474=)
|
rs570042183
|
0.00002
|
NM_000096.4(CP):c.229G>C (p.Asp77His)
|
rs200683433
|
0.00002
|
NM_000096.4(CP):c.2310G>A (p.Lys770=)
|
rs553883583
|
0.00002
|
NM_000096.4(CP):c.863T>C (p.Met288Thr)
|
rs747305045
|
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.4168-4C>A
|
rs775180524
|
0.00002
|
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met)
|
rs145148206
|
0.00002
|
NM_000135.4(FANCA):c.4261-18C>G
|
rs781731674
|
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_000254.3(MTR):c.1395G>A (p.Gly465=)
|
rs372015549
|
0.00002
|
NM_000254.3(MTR):c.1434G>A (p.Glu478=)
|
rs747176647
|
0.00002
|
NM_000254.3(MTR):c.1953+7A>G
|
rs777871271
|
0.00002
|
NM_000254.3(MTR):c.2109A>G (p.Arg703=)
|
rs565935347
|
0.00002
|
NM_000254.3(MTR):c.259C>T (p.Leu87=)
|
rs751808381
|
0.00002
|
NM_000254.3(MTR):c.2775+17G>T
|
rs763995449
|
0.00002
|
NM_000254.3(MTR):c.2910G>A (p.Val970=)
|
rs769690083
|
0.00002
|
NM_000254.3(MTR):c.339+19C>T
|
rs199843808
|
0.00002
|
NM_000254.3(MTR):c.3598+15G>A
|
rs754129736
|
0.00002
|
NM_000254.3(MTR):c.486G>A (p.Pro162=)
|
rs747494979
|
0.00002
|
NM_000254.3(MTR):c.711C>T (p.Ser237=)
|
rs775774568
|
0.00002
|
NM_000289.6(PFKM):c.1128-4A>G
|
rs570665595
|
0.00002
|
NM_000289.6(PFKM):c.1200G>A (p.Ser400=)
|
rs746775189
|
0.00002
|
NM_000289.6(PFKM):c.1308C>G (p.Val436=)
|
rs779395140
|
0.00002
|
NM_000289.6(PFKM):c.1464T>C (p.Phe488=)
|
rs374814413
|
0.00002
|
NM_000289.6(PFKM):c.1467C>T (p.Asn489=)
|
rs753681797
|
0.00002
|
NM_000289.6(PFKM):c.2097G>C (p.Arg699=)
|
rs776783895
|
0.00002
|
NM_000289.6(PFKM):c.2176C>T (p.Leu726=)
|
rs761487239
|
0.00002
|
NM_000289.6(PFKM):c.2337C>T (p.Ala779=)
|
rs748647298
|
0.00002
|
NM_000289.6(PFKM):c.471C>T (p.Asn157=)
|
rs1223915629
|
0.00002
|
NM_000289.6(PFKM):c.834C>T (p.Asp278=)
|
rs776432077
|
0.00002
|
NM_000289.6(PFKM):c.912G>A (p.Thr304=)
|
rs764516934
|
0.00002
|
NM_000355.4(TCN2):c.258-10C>T
|
rs757142216
|
0.00002
|
NM_000355.4(TCN2):c.390G>A (p.Gln130=)
|
rs565849474
|
0.00002
|
NM_000355.4(TCN2):c.65-8T>C
|
rs773798398
|
0.00002
|
NM_000355.4(TCN2):c.753+8A>G
|
rs778117023
|
0.00002
|
NM_000355.4(TCN2):c.846C>T (p.Ala282=)
|
rs745306636
|
0.00002
|
NM_000355.4(TCN2):c.999G>A (p.Thr333=)
|
rs747578310
|
0.00002
|
NM_000969.5(RPL5):c.156A>C (p.Ile52=)
|
rs753968704
|
0.00002
|
NM_000969.5(RPL5):c.324+12A>T
|
rs781444582
|
0.00002
|
NM_000969.5(RPL5):c.519C>T (p.Ile173=)
|
rs755317830
|
0.00002
|
NM_000969.5(RPL5):c.690C>T (p.Ser230=)
|
rs766117227
|
0.00002
|
NM_000969.5(RPL5):c.794+8G>A
|
rs907325546
|
0.00002
|
NM_000975.5(RPL11):c.258T>G (p.Gly86=)
|
rs760885169
|
0.00002
|
NM_000975.5(RPL11):c.33C>T (p.Pro11=)
|
rs764637448
|
0.00002
|
NM_000975.5(RPL11):c.507+8T>C
|
rs757566843
|
0.00002
|
NM_000987.5(RPL26):c.153G>A (p.Lys51=)
|
rs759269888
|
0.00002
|
NM_000996.4(RPL35A):c.164+18G>A
|
rs749642279
|
0.00002
|
NM_001011.4(RPS7):c.264T>C (p.Ser88=)
|
rs1244488439
|
0.00002
|
NM_001014.5(RPS10):c.135C>T (p.Val45=)
|
rs148901210
|
0.00002
|
NM_001014.5(RPS10):c.171C>T (p.Tyr57=)
|
rs751801707
|
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_001022.4(RPS19):c.87A>G (p.Lys29=)
|
rs11540256
|
0.00002
|
NM_001029.5(RPS26):c.207G>C (p.Val69=)
|
rs776240183
|
0.00002
|
NM_001081.4(CUBN):c.1765+9G>A
|
rs780944597
|
0.00002
|
NM_001081.4(CUBN):c.4206C>T (p.Phe1402=)
|
rs563089365
|
0.00002
|
NM_001081.4(CUBN):c.483G>A (p.Gln161=)
|
rs371508247
|
0.00002
|
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=)
|
rs199868206
|
0.00002
|
NM_001081.4(CUBN):c.7218C>A (p.Ile2406=)
|
rs369069102
|
0.00002
|
NM_001081.4(CUBN):c.7534-5A>G
|
rs769047632
|
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_001243177.4(ALDOA):c.498C>T (p.Gly166=)
|
rs145811469
|
0.00002
|
NM_001243177.4(ALDOA):c.597C>T (p.Phe199=)
|
rs769378422
|
0.00002
|
NM_001360016.2(G6PD):c.1017C>T (p.Ala339=)
|
rs1440647556
|
0.00002
|
NM_001360016.2(G6PD):c.1113G>A (p.Leu371=)
|
rs1166552162
|
0.00002
|
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=)
|
rs782623392
|
0.00002
|
NM_001360016.2(G6PD):c.1287+19G>A
|
rs781980305
|
0.00002
|
NM_001360016.2(G6PD):c.1338C>T (p.Cys446=)
|
rs1557229582
|
0.00002
|
NM_001360016.2(G6PD):c.1368C>T (p.Asp456=)
|
rs782170250
|
0.00002
|
NM_001360016.2(G6PD):c.1437C>T (p.Pro479=)
|
rs781829860
|
0.00002
|
NM_001360016.2(G6PD):c.1443C>T (p.Pro481=)
|
rs377659103
|
0.00002
|
NM_001360016.2(G6PD):c.1452T>C (p.Tyr484=)
|
rs782797399
|
0.00002
|
NM_001360016.2(G6PD):c.1457+19C>T
|
rs1557229460
|
0.00002
|
NM_001360016.2(G6PD):c.1470G>A (p.Thr490=)
|
rs782206043
|
0.00002
|
NM_001360016.2(G6PD):c.186C>T (p.Pro62=)
|
rs781875587
|
0.00002
|
NM_001360016.2(G6PD):c.264C>G (p.Phe88Leu)
|
rs781794862
|
0.00002
|
NM_001360016.2(G6PD):c.336C>T (p.Tyr112=)
|
rs1307320948
|
0.00002
|
NM_001360016.2(G6PD):c.441C>T (p.Tyr147=)
|
rs375189502
|
0.00002
|
NM_001360016.2(G6PD):c.564C>T (p.Ser188=)
|
rs200626353
|
0.00002
|
NM_001360016.2(G6PD):c.597C>T (p.Ile199=)
|
rs369516039
|
0.00002
|
NM_001360016.2(G6PD):c.708C>T (p.Thr236=)
|
rs782118135
|
0.00002
|
NM_001360016.2(G6PD):c.750C>T (p.Phe250=)
|
rs140496395
|
0.00002
|
NM_001360016.2(G6PD):c.771-11T>C
|
rs782622284
|
0.00002
|
NM_002049.4(GATA1):c.1041G>A (p.Gly347=)
|
rs1412419664
|
0.00002
|
NM_002049.4(GATA1):c.220+12G>A
|
rs2062674583
|
0.00002
|
NM_002049.4(GATA1):c.360C>T (p.Ala120=)
|
rs782008052
|
0.00002
|
NM_002049.4(GATA1):c.534C>A (p.Ser178Arg)
|
rs782193818
|
0.00002
|
NM_002049.4(GATA1):c.740G>A (p.Arg247His)
|
rs782534643
|
0.00002
|
NM_002049.4(GATA1):c.822T>C (p.Ser274=)
|
rs781852329
|
0.00002
|
NM_002454.3(MTRR):c.1057+9C>T
|
rs752920631
|
0.00002
|
NM_002454.3(MTRR):c.1146+12T>C
|
rs775452380
|
0.00002
|
NM_002454.3(MTRR):c.129+20A>T
|
rs758051759
|
0.00002
|
NM_002454.3(MTRR):c.1317T>C (p.Ser439=)
|
rs756279354
|
0.00002
|
NM_002454.3(MTRR):c.1563C>T (p.Ser521=)
|
rs757184514
|
0.00002
|
NM_002454.3(MTRR):c.1575A>C (p.Arg525=)
|
rs369430052
|
0.00002
|
NM_002454.3(MTRR):c.1641C>T (p.Thr547=)
|
rs1044675786
|
0.00002
|
NM_002454.3(MTRR):c.1769+14C>T
|
rs760216011
|
0.00002
|
NM_002454.3(MTRR):c.1773A>G (p.Lys591=)
|
rs760394620
|
0.00002
|
NM_002454.3(MTRR):c.1959A>G (p.Ala653=)
|
rs763202690
|
0.00002
|
NM_002454.3(MTRR):c.280C>T (p.Leu94=)
|
rs1383637211
|
0.00002
|
NM_002454.3(MTRR):c.459T>C (p.His153=)
|
rs1485372093
|
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_005050.4(ABCD4):c.1401C>T (p.Asp467=)
|
rs757799492
|
0.00002
|
NM_005050.4(ABCD4):c.1559+20G>A
|
rs572419384
|
0.00002
|
NM_005050.4(ABCD4):c.1704G>A (p.Gln568=)
|
rs141766346
|
0.00002
|
NM_005050.4(ABCD4):c.1818A>G (p.Glu606=)
|
rs761917106
|
0.00002
|
NM_005050.4(ABCD4):c.374G>A (p.Arg125Gln)
|
rs368694663
|
0.00002
|
NM_005142.3(CBLIF):c.1230C>T (p.Ile410=)
|
rs150857406
|
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_005334.3(HCFC1):c.1689G>A (p.Ser563=)
|
rs782472950
|
0.00002
|
NM_005334.3(HCFC1):c.2346C>T (p.Gly782=)
|
rs782517377
|
0.00002
|
NM_005334.3(HCFC1):c.2856+15G>A
|
rs1286532435
|
0.00002
|
NM_005334.3(HCFC1):c.2859C>T (p.Pro953=)
|
rs1436495630
|
0.00002
|
NM_005334.3(HCFC1):c.2973C>T (p.Thr991=)
|
rs1557114580
|
0.00002
|
NM_005334.3(HCFC1):c.3249C>T (p.His1083=)
|
rs782014460
|
0.00002
|
NM_005334.3(HCFC1):c.3455C>G (p.Ala1152Gly)
|
rs868914963
|
0.00002
|
NM_005334.3(HCFC1):c.3975C>T (p.His1325=)
|
rs373289538
|
0.00002
|
NM_005334.3(HCFC1):c.4619C>T (p.Thr1540Ile)
|
rs781788935
|
0.00002
|
NM_005334.3(HCFC1):c.504-5G>A
|
rs1362015008
|
0.00002
|
NM_005334.3(HCFC1):c.5517+16T>A
|
rs782354980
|
0.00002
|
NM_005334.3(HCFC1):c.5769C>T (p.Tyr1923=)
|
rs781929046
|
0.00002
|
NM_005334.3(HCFC1):c.748G>A (p.Val250Met)
|
rs782385961
|
0.00002
|
NM_006363.6(SEC23B):c.1512-10G>T
|
rs770601333
|
0.00002
|
NM_006363.6(SEC23B):c.328T>C (p.Leu110=)
|
rs368413002
|
0.00002
|
NM_015506.3(MMACHC):c.105G>A (p.Leu35=)
|
rs1415635839
|
0.00002
|
NM_015506.3(MMACHC):c.354G>A (p.Gln118=)
|
rs765769901
|
0.00002
|
NM_015506.3(MMACHC):c.414C>T (p.Asp138=)
|
rs775173474
|
0.00002
|
NM_015506.3(MMACHC):c.429+14T>G
|
rs371226986
|
0.00002
|
NM_015506.3(MMACHC):c.574C>T (p.Leu192=)
|
rs762919217
|
0.00002
|
NM_015506.3(MMACHC):c.606T>C (p.Asp202=)
|
rs748881103
|
0.00002
|
NM_015506.3(MMACHC):c.765C>T (p.Pro255=)
|
rs772078967
|
0.00002
|
NM_015506.3(MMACHC):c.810C>T (p.Leu270=)
|
rs778330842
|
0.00002
|
NM_015702.3(MMADHC):c.537A>G (p.Thr179=)
|
rs377571291
|
0.00002
|
NM_015702.3(MMADHC):c.615C>T (p.Ile205=)
|
rs986210972
|
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_018368.4(LMBRD1):c.1188+7A>T
|
rs375681915
|
0.00002
|
NM_018368.4(LMBRD1):c.1418-16T>C
|
rs753105951
|
0.00002
|
NM_018368.4(LMBRD1):c.1557G>A (p.Ser519=)
|
rs944285630
|
0.00002
|
NM_018368.4(LMBRD1):c.39C>T (p.Ile13=)
|
rs368494826
|
0.00002
|
NM_018368.4(LMBRD1):c.897C>T (p.Gly299=)
|
rs757392138
|
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_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_033022.4(RPS24):c.60G>A (p.Arg20=)
|
rs751090185
|
0.00002
|
NM_033022.4(RPS24):c.6C>T (p.Asn2=)
|
rs746098498
|
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_182916.3(TRNT1):c.282G>A (p.Gln94=)
|
rs527886866
|
0.00002
|
NM_182916.3(TRNT1):c.324C>T (p.His108=)
|
rs773050420
|
0.00002
|
NM_182916.3(TRNT1):c.885T>C (p.Leu295=)
|
rs747603797
|
0.00002
|
NM_000096.4(CP):c.1036+16C>T
|
rs376410072
|
0.00001
|
NM_000096.4(CP):c.1036+8A>G
|
rs369718195
|
0.00001
|
NM_000096.4(CP):c.1098C>T (p.Ile366=)
|
rs117829763
|
0.00001
|
NM_000096.4(CP):c.1188A>G (p.Glu396=)
|
rs928128624
|
0.00001
|
NM_000096.4(CP):c.1293C>T (p.Ala431=)
|
rs758930665
|
0.00001
|
NM_000096.4(CP):c.1380C>T (p.Thr460=)
|
rs149790356
|
0.00001
|
NM_000096.4(CP):c.146+7C>T
|
rs1728813630
|
0.00001
|
NM_000096.4(CP):c.1713+15G>A
|
rs1400784376
|
0.00001
|
NM_000096.4(CP):c.1818G>A (p.Gln606=)
|
rs766556425
|
0.00001
|
NM_000096.4(CP):c.1896G>A (p.Pro632=)
|
rs764073986
|
0.00001
|
NM_000096.4(CP):c.1923G>A (p.Ser641=)
|
rs745966582
|
0.00001
|
NM_000096.4(CP):c.1974A>C (p.Ile658=)
|
rs751761820
|
0.00001
|
NM_000096.4(CP):c.2442A>G (p.Ala814=)
|
rs762942794
|
0.00001
|
NM_000096.4(CP):c.2555-20T>C
|
rs1725654318
|
0.00001
|
NM_000096.4(CP):c.2697T>C (p.Val899=)
|
rs17847022
|
0.00001
|
NM_000096.4(CP):c.462G>A (p.Gln154=)
|
rs766925024
|
0.00001
|
NM_000096.4(CP):c.471C>T (p.Tyr157=)
|
rs773374620
|
0.00001
|
NM_000096.4(CP):c.514G>C (p.Gly172Arg)
|
rs768492670
|
0.00001
|
NM_000096.4(CP):c.528T>C (p.Thr176=)
|
rs778533284
|
0.00001
|
NM_000096.4(CP):c.607+15T>C
|
rs1439440422
|
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.3829-10C>T
|
rs374510260
|
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.3934+10dup
|
rs755153673
|
0.00001
|
NM_000135.4(FANCA):c.3934+9C>T
|
rs201323033
|
0.00001
|
NM_000135.4(FANCA):c.3935-4G>A
|
rs1392135704
|
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.4010+12C>T
|
rs1445940471
|
0.00001
|
NM_000135.4(FANCA):c.4010+14C>T
|
rs1339996571
|
0.00001
|
NM_000135.4(FANCA):c.4011-20C>T
|
rs766594215
|
0.00001
|
NM_000135.4(FANCA):c.4011-4C>G
|
rs372364590
|
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.4261-11C>T
|
rs2062032586
|
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_000254.3(MTR):c.1071G>A (p.Leu357=)
|
rs771474135
|
0.00001
|
NM_000254.3(MTR):c.1076-16T>C
|
rs1363188046
|
0.00001
|
NM_000254.3(MTR):c.108G>A (p.Gly36=)
|
rs1057523951
|
0.00001
|
NM_000254.3(MTR):c.1311C>T (p.Ser437=)
|
rs777192214
|
0.00001
|
NM_000254.3(MTR):c.1329+15A>G
|
rs752303010
|
0.00001
|
NM_000254.3(MTR):c.1425G>A (p.Lys475=)
|
rs1464958347
|
0.00001
|
NM_000254.3(MTR):c.1566G>C (p.Leu522=)
|
rs779536088
|
0.00001
|
NM_000254.3(MTR):c.1695+15G>A
|
rs750838511
|
0.00001
|
NM_000254.3(MTR):c.1743C>T (p.Ser581=)
|
rs758784869
|
0.00001
|
NM_000254.3(MTR):c.181A>C (p.Arg61=)
|
rs886046217
|
0.00001
|
NM_000254.3(MTR):c.2446C>T (p.Leu816=)
|
rs1458770538
|
0.00001
|
NM_000254.3(MTR):c.2454T>C (p.Ala818=)
|
rs769066955
|
0.00001
|
NM_000254.3(MTR):c.2763T>C (p.Tyr921=)
|
rs989945025
|
0.00001
|
NM_000254.3(MTR):c.2775+19T>C
|
rs1416410897
|
0.00001
|
NM_000254.3(MTR):c.2776-16C>T
|
rs770223976
|
0.00001
|
NM_000254.3(MTR):c.3315T>C (p.Phe1105=)
|
rs1221565565
|
0.00001
|
NM_000254.3(MTR):c.34+10C>T
|
rs376679817
|
0.00001
|
NM_000254.3(MTR):c.34+13C>A
|
rs370004550
|
0.00001
|
NM_000254.3(MTR):c.3516C>T (p.Arg1172=)
|
rs750050502
|
0.00001
|
NM_000254.3(MTR):c.444G>A (p.Pro148=)
|
rs778868012
|
0.00001
|
NM_000254.3(MTR):c.669+11A>C
|
rs773271317
|
0.00001
|
NM_000289.6(PFKM):c.1005A>G (p.Val335=)
|
rs1454843075
|
0.00001
|
NM_000289.6(PFKM):c.1014C>G (p.Leu338=)
|
rs745952414
|
0.00001
|
NM_000289.6(PFKM):c.103A>C (p.Arg35=)
|
rs1057522048
|
0.00001
|
NM_000289.6(PFKM):c.1041C>T (p.Pro347=)
|
rs1350163599
|
0.00001
|
NM_000289.6(PFKM):c.1104C>T (p.Asp368=)
|
rs151045985
|
0.00001
|
NM_000289.6(PFKM):c.1149G>A (p.Glu383=)
|
rs765367927
|
0.00001
|
NM_000289.6(PFKM):c.1192-16G>A
|
rs756542348
|
0.00001
|
NM_000289.6(PFKM):c.1192-4A>G
|
rs1320880960
|
0.00001
|
NM_000289.6(PFKM):c.1192-7T>C
|
rs1445315219
|
0.00001
|
NM_000289.6(PFKM):c.123T>C (p.Gly41=)
|
rs756442663
|
0.00001
|
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)
|
rs886049454
|
0.00001
|
NM_000289.6(PFKM):c.1260C>T (p.Arg420=)
|
rs756454146
|
0.00001
|
NM_000289.6(PFKM):c.1275T>C (p.Ile425=)
|
rs1592789738
|
0.00001
|
NM_000289.6(PFKM):c.129C>T (p.Phe43=)
|
rs1181855702
|
0.00001
|
NM_000289.6(PFKM):c.132C>T (p.Thr44=)
|
rs780240624
|
0.00001
|
NM_000289.6(PFKM):c.1374C>G (p.Gly458=)
|
rs765683112
|
0.00001
|
NM_000289.6(PFKM):c.138C>T (p.Ala46=)
|
rs1413157674
|
0.00001
|
NM_000289.6(PFKM):c.1455A>C (p.Ile485=)
|
rs1404730324
|
0.00001
|
NM_000289.6(PFKM):c.159+10G>A
|
rs772752063
|
0.00001
|
NM_000289.6(PFKM):c.1599C>T (p.Val533=)
|
rs1308260209
|
0.00001
|
NM_000289.6(PFKM):c.160-11G>C
|
rs770427697
|
0.00001
|
NM_000289.6(PFKM):c.1617C>T (p.Ser539=)
|
rs371605516
|
0.00001
|
NM_000289.6(PFKM):c.1653+10T>C
|
rs1355868874
|
0.00001
|
NM_000289.6(PFKM):c.1761A>G (p.Ala587=)
|
rs1950696961
|
0.00001
|
NM_000289.6(PFKM):c.1818+10C>T
|
rs774040508
|
0.00001
|
NM_000289.6(PFKM):c.1857T>C (p.Thr619=)
|
rs762229855
|
0.00001
|
NM_000289.6(PFKM):c.1908C>T (p.Thr636=)
|
rs748755500
|
0.00001
|
NM_000289.6(PFKM):c.1980T>A (p.Gly660=)
|
rs1180149962
|
0.00001
|
NM_000289.6(PFKM):c.1993-6C>T
|
rs1258118168
|
0.00001
|
NM_000289.6(PFKM):c.2034G>A (p.Lys678=)
|
rs1426948180
|
0.00001
|
NM_000289.6(PFKM):c.2093-9T>G
|
rs1425536614
|
0.00001
|
NM_000289.6(PFKM):c.216C>T (p.Ser72=)
|
rs760812841
|
0.00001
|
NM_000289.6(PFKM):c.2199-4G>A
|
rs1195176028
|
0.00001
|
NM_000289.6(PFKM):c.222G>A (p.Ser74=)
|
rs754074132
|
0.00001
|
NM_000289.6(PFKM):c.2292T>C (p.His764=)
|
rs765145687
|
0.00001
|
NM_000289.6(PFKM):c.2325C>T (p.Ser775=)
|
rs780497709
|
0.00001
|
NM_000289.6(PFKM):c.237+10A>G
|
rs753085406
|
0.00001
|
NM_000289.6(PFKM):c.238-9C>T
|
rs1410090927
|
0.00001
|
NM_000289.6(PFKM):c.276T>C (p.Phe92=)
|
rs1479575063
|
0.00001
|
NM_000289.6(PFKM):c.318G>A (p.Val106=)
|
rs775680284
|
0.00001
|
NM_000289.6(PFKM):c.333C>T (p.Thr111=)
|
rs767919774
|
0.00001
|
NM_000289.6(PFKM):c.36G>A (p.Leu12=)
|
rs765868040
|
0.00001
|
NM_000289.6(PFKM):c.375T>C (p.Ala125=)
|
rs748925843
|
0.00001
|
NM_000289.6(PFKM):c.384C>T (p.Phe128=)
|
rs771979702
|
0.00001
|
NM_000289.6(PFKM):c.393G>A (p.Glu131=)
|
rs1949678398
|
0.00001
|
NM_000289.6(PFKM):c.428-5G>A
|
rs530415874
|
0.00001
|
NM_000289.6(PFKM):c.477G>T (p.Val159=)
|
rs1409128392
|
0.00001
|
NM_000289.6(PFKM):c.546G>A (p.Leu182=)
|
rs779095033
|
0.00001
|
NM_000289.6(PFKM):c.570T>C (p.Asp190=)
|
rs761133325
|
0.00001
|
NM_000289.6(PFKM):c.638+20C>T
|
rs901548166
|
0.00001
|
NM_000289.6(PFKM):c.66C>G (p.Thr22=)
|
rs995717911
|
0.00001
|
NM_000289.6(PFKM):c.675C>T (p.Ala225=)
|
rs1368560997
|
0.00001
|
NM_000289.6(PFKM):c.711C>T (p.Asp237=)
|
rs768094970
|
0.00001
|
NM_000289.6(PFKM):c.825C>T (p.Thr275=)
|
rs1173987256
|
0.00001
|
NM_000289.6(PFKM):c.844-4T>C
|
rs1366950106
|
0.00001
|
NM_000289.6(PFKM):c.844-8C>T
|
rs1422456826
|
0.00001
|
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
|
rs1313998695
|
0.00001
|
NM_000289.6(PFKM):c.888G>A (p.Leu296=)
|
rs753083173
|
0.00001
|
NM_000289.6(PFKM):c.927C>T (p.Asp309=)
|
rs752179477
|
0.00001
|
NM_000289.6(PFKM):c.987A>T (p.Pro329=)
|
rs932393961
|
0.00001
|
NM_000289.6(PFKM):c.993C>G (p.Thr331=)
|
rs754716303
|
0.00001
|
NM_000355.4(TCN2):c.1062C>T (p.Thr354=)
|
rs770733287
|
0.00001
|
NM_000355.4(TCN2):c.1086C>G (p.Ala362=)
|
rs553587653
|
0.00001
|
NM_000355.4(TCN2):c.1107-4G>A
|
rs1485846164
|
0.00001
|
NM_000355.4(TCN2):c.1150G>A (p.Val384Met)
|
rs144166182
|
0.00001
|
NM_000355.4(TCN2):c.1167C>T (p.Ala389=)
|
rs369722707
|
0.00001
|
NM_000355.4(TCN2):c.1230T>C (p.Ala410=)
|
rs1391122960
|
0.00001
|
NM_000355.4(TCN2):c.1233C>T (p.Asp411=)
|
rs931753951
|
0.00001
|
NM_000355.4(TCN2):c.174A>G (p.Leu58=)
|
rs764601482
|
0.00001
|
NM_000355.4(TCN2):c.257+8C>T
|
rs747963904
|
0.00001
|
NM_000355.4(TCN2):c.270C>T (p.Ser90=)
|
rs775251694
|
0.00001
|
NM_000355.4(TCN2):c.427+13C>T
|
rs753858269
|
0.00001
|
NM_000355.4(TCN2):c.427+15T>C
|
rs764862389
|
0.00001
|
NM_000355.4(TCN2):c.428-7C>T
|
rs778810764
|
0.00001
|
NM_000355.4(TCN2):c.428-8C>T
|
rs1412501560
|
0.00001
|
NM_000355.4(TCN2):c.459C>T (p.Ser153=)
|
rs201344377
|
0.00001
|
NM_000355.4(TCN2):c.465C>T (p.Tyr155=)
|
rs1484880205
|
0.00001
|
NM_000355.4(TCN2):c.490C>T (p.Leu164=)
|
rs754253807
|
0.00001
|
NM_000355.4(TCN2):c.567C>T (p.Gly189=)
|
rs143343408
|
0.00001
|
NM_000355.4(TCN2):c.612C>T (p.Thr204=)
|
rs1237569304
|
0.00001
|
NM_000355.4(TCN2):c.660C>G (p.Thr220=)
|
rs2087597240
|
0.00001
|
NM_000355.4(TCN2):c.708C>T (p.Pro236=)
|
rs762630641
|
0.00001
|
NM_000355.4(TCN2):c.735C>T (p.Ser245=)
|
rs755751120
|
0.00001
|
NM_000355.4(TCN2):c.753+19del
|
rs767328402
|
0.00001
|
NM_000355.4(TCN2):c.87T>C (p.His29=)
|
rs1365708322
|
0.00001
|
NM_000355.4(TCN2):c.915C>T (p.Ile305=)
|
rs911038185
|
0.00001
|
NM_000355.4(TCN2):c.918C>T (p.Phe306=)
|
rs567457027
|
0.00001
|
NM_000355.4(TCN2):c.924C>T (p.Asp308=)
|
rs1376577981
|
0.00001
|
NM_000355.4(TCN2):c.99G>A (p.Lys33=)
|
rs1485632884
|
0.00001
|
NM_000969.5(RPL5):c.18T>A (p.Val6=)
|
rs768965548
|
0.00001
|
NM_000969.5(RPL5):c.204T>A (p.Arg68=)
|
rs1031900489
|
0.00001
|
NM_000969.5(RPL5):c.307C>T (p.Leu103=)
|
rs574546327
|
0.00001
|
NM_000969.5(RPL5):c.309G>T (p.Leu103=)
|
rs760490644
|
0.00001
|
NM_000969.5(RPL5):c.381T>A (p.Gly127=)
|
rs1251386648
|
0.00001
|
NM_000969.5(RPL5):c.384T>C (p.Asp128=)
|
rs749814264
|
0.00001
|
NM_000969.5(RPL5):c.4-4T>C
|
rs746944177
|
0.00001
|
NM_000969.5(RPL5):c.435T>C (p.Tyr145=)
|
rs188046229
|
0.00001
|
NM_000969.5(RPL5):c.527+10C>T
|
rs779348774
|
0.00001
|
NM_000969.5(RPL5):c.657C>T (p.Tyr219=)
|
rs1481353859
|
0.00001
|
NM_000975.5(RPL11):c.24G>A (p.Lys8=)
|
rs143617222
|
0.00001
|
NM_000975.5(RPL11):c.264+9A>T
|
rs777041270
|
0.00001
|
NM_000975.5(RPL11):c.306T>C (p.Thr102=)
|
rs886046309
|
0.00001
|
NM_000975.5(RPL11):c.72C>T (p.Ile24=)
|
rs781675016
|
0.00001
|
NM_000987.5(RPL26):c.24T>C (p.Thr8=)
|
rs750540417
|
0.00001
|
NM_000987.5(RPL26):c.255G>A (p.Val85=)
|
rs758125897
|
0.00001
|
NM_000996.4(RPL35A):c.11+11T>C
|
rs766619628
|
0.00001
|
NM_000996.4(RPL35A):c.11+17T>C
|
rs780298603
|
0.00001
|
NM_000996.4(RPL35A):c.12-13T>A
|
rs778146996
|
0.00001
|
NM_000996.4(RPL35A):c.141C>T (p.Cys47=)
|
rs1440792535
|
0.00001
|
NM_000996.4(RPL35A):c.57G>A (p.Arg19=)
|
rs769775044
|
0.00001
|
NM_001011.4(RPS7):c.126G>A (p.Glu42=)
|
rs777387773
|
0.00001
|
NM_001011.4(RPS7):c.301C>T (p.Leu101=)
|
rs1001502341
|
0.00001
|
NM_001011.4(RPS7):c.378C>T (p.His126=)
|
rs764498089
|
0.00001
|
NM_001011.4(RPS7):c.39C>T (p.Gly13=)
|
rs746686516
|
0.00001
|
NM_001011.4(RPS7):c.462A>T (p.Ile154=)
|
rs1478289413
|
0.00001
|
NM_001011.4(RPS7):c.525T>G (p.Gly175=)
|
rs1392470365
|
0.00001
|
NM_001011.4(RPS7):c.66C>T (p.Gly22=)
|
rs773617808
|
0.00001
|
NM_001014.5(RPS10):c.186T>C (p.Phe62=)
|
rs753811128
|
0.00001
|
NM_001014.5(RPS10):c.189C>T (p.Ala63=)
|
rs772715124
|
0.00001
|
NM_001014.5(RPS10):c.312T>A (p.Pro104=)
|
rs775998609
|
0.00001
|
NM_001014.5(RPS10):c.322+15C>G
|
rs770954930
|
0.00001
|
NM_001014.5(RPS10):c.322+16A>G
|
rs747142176
|
0.00001
|
NM_001014.5(RPS10):c.323-4A>G
|
rs200083898
|
0.00001
|
NM_001014.5(RPS10):c.360G>A (p.Gly120=)
|
rs763715001
|
0.00001
|
NM_001014.5(RPS10):c.401-17G>A
|
rs753421531
|
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_001022.4(RPS19):c.24C>T (p.Asp8=)
|
rs782536520
|
0.00001
|
NM_001022.4(RPS19):c.356+12del
|
rs781789110
|
0.00001
|
NM_001022.4(RPS19):c.357-6C>T
|
rs529093944
|
0.00001
|
NM_001022.4(RPS19):c.393G>A (p.Leu131=)
|
rs1447794153
|
0.00001
|
NM_001022.4(RPS19):c.405C>T (p.Ala135=)
|
rs550819306
|
0.00001
|
NM_001022.4(RPS19):c.93C>G (p.Pro31=)
|
rs1318520916
|
0.00001
|
NM_001029.5(RPS26):c.291C>T (p.Pro97=)
|
rs766621663
|
0.00001
|
NM_001029.5(RPS26):c.3+14C>T
|
rs763770729
|
0.00001
|
NM_001029.5(RPS26):c.3+20G>C
|
rs759864837
|
0.00001
|
NM_001029.5(RPS26):c.315T>A (p.Gly105=)
|
rs554297156
|
0.00001
|
NM_001029.5(RPS26):c.42C>T (p.Gly14=)
|
rs771196681
|
0.00001
|
NM_001029.5(RPS26):c.69C>T (p.Cys23=)
|
rs986563758
|
0.00001
|
NM_001029.5(RPS26):c.81C>T (p.Ala27=)
|
rs773982358
|
0.00001
|
NM_001081.4(CUBN):c.10530A>T (p.Gly3510=)
|
rs376007864
|
0.00001
|
NM_001081.4(CUBN):c.1111+12T>A
|
rs772358097
|
0.00001
|
NM_001081.4(CUBN):c.1350C>T (p.Gly450=)
|
rs770827241
|
0.00001
|
NM_001081.4(CUBN):c.1531-8A>G
|
rs776677485
|
0.00001
|
NM_001081.4(CUBN):c.1644T>C (p.Phe548=)
|
rs559998744
|
0.00001
|
NM_001081.4(CUBN):c.1704C>G (p.Leu568=)
|
rs752698463
|
0.00001
|
NM_001081.4(CUBN):c.2446+18T>C
|
rs756171220
|
0.00001
|
NM_001081.4(CUBN):c.2997A>G (p.Thr999=)
|
rs762336429
|
0.00001
|
NM_001081.4(CUBN):c.3639G>A (p.Glu1213=)
|
rs1479997421
|
0.00001
|
NM_001081.4(CUBN):c.4018-14C>A
|
rs376137878
|
0.00001
|
NM_001081.4(CUBN):c.4696-18C>G
|
rs745926280
|
0.00001
|
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=)
|
rs577984421
|
0.00001
|
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=)
|
rs754694753
|
0.00001
|
NM_001081.4(CUBN):c.5556C>T (p.Gly1852=)
|
rs1459051392
|
0.00001
|
NM_001081.4(CUBN):c.5709A>G (p.Gln1903=)
|
rs1305422200
|
0.00001
|
NM_001081.4(CUBN):c.5757C>T (p.His1919=)
|
rs79184887
|
0.00001
|
NM_001081.4(CUBN):c.6048C>T (p.Thr2016=)
|
rs770723197
|
0.00001
|
NM_001081.4(CUBN):c.6366C>A (p.Val2122=)
|
rs774532398
|
0.00001
|
NM_001081.4(CUBN):c.6821+20A>G
|
rs753314241
|
0.00001
|
NM_001081.4(CUBN):c.720+12C>A
|
rs888514621
|
0.00001
|
NM_001081.4(CUBN):c.7587T>C (p.Ser2529=)
|
rs1199891308
|
0.00001
|
NM_001081.4(CUBN):c.795C>T (p.Asp265=)
|
rs777864127
|
0.00001
|
NM_001081.4(CUBN):c.8479G>A (p.Glu2827Lys)
|
rs373893072
|
0.00001
|
NM_001081.4(CUBN):c.8565C>T (p.Ser2855=)
|
rs201227730
|
0.00001
|
NM_001081.4(CUBN):c.8739C>T (p.Ser2913=)
|
rs140586269
|
0.00001
|
NM_001081.4(CUBN):c.9060C>T (p.Asn3020=)
|
rs377526677
|
0.00001
|
NM_001081.4(CUBN):c.9237-10C>T
|
rs768128551
|
0.00001
|
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=)
|
rs754292924
|
0.00001
|
NM_001081.4(CUBN):c.9816C>T (p.Thr3272=)
|
rs750580951
|
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_001243177.4(ALDOA):c.1134G>A (p.Ala378=)
|
rs530089317
|
0.00001
|
NM_001243177.4(ALDOA):c.1233C>T (p.Leu411=)
|
rs3169548
|
0.00001
|
NM_001243177.4(ALDOA):c.309C>T (p.Thr103=)
|
rs758280973
|
0.00001
|
NM_001243177.4(ALDOA):c.720C>T (p.Ile240=)
|
rs573479181
|
0.00001
|
NM_001243177.4(ALDOA):c.996G>C (p.Glu332Asp)
|
rs565013143
|
0.00001
|
NM_001360016.2(G6PD):c.1052-10C>T
|
rs1557229778
|
0.00001
|
NM_001360016.2(G6PD):c.1052-9G>A
|
rs1334473526
|
0.00001
|
NM_001360016.2(G6PD):c.1059C>T (p.Pro353=)
|
rs80280508
|
0.00001
|
NM_001360016.2(G6PD):c.1074C>T (p.Cys358=)
|
rs782078151
|
0.00001
|
NM_001360016.2(G6PD):c.1084C>T (p.Leu362=)
|
rs375809290
|
0.00001
|
NM_001360016.2(G6PD):c.1086G>A (p.Leu362=)
|
rs1557229739
|
0.00001
|
NM_001360016.2(G6PD):c.1254G>A (p.Ser418=)
|
rs371808526
|
0.00001
|
NM_001360016.2(G6PD):c.1287+14A>G
|
rs1557229641
|
0.00001
|
NM_001360016.2(G6PD):c.1290C>T (p.Asn430=)
|
rs782761811
|
0.00001
|
NM_001360016.2(G6PD):c.1314G>A (p.Glu438=)
|
rs1557229604
|
0.00001
|
NM_001360016.2(G6PD):c.1464C>T (p.Gly488=)
|
rs1557229428
|
0.00001
|
NM_001360016.2(G6PD):c.1485G>A (p.Leu495=)
|
rs781923155
|
0.00001
|
NM_001360016.2(G6PD):c.1506G>A (p.Gln502=)
|
rs1447713922
|
0.00001
|
NM_001360016.2(G6PD):c.153C>T (p.Thr51=)
|
rs2070406324
|
0.00001
|
NM_001360016.2(G6PD):c.177C>T (p.Gly59=)
|
rs1557230778
|
0.00001
|
NM_001360016.2(G6PD):c.228A>T (p.Thr76=)
|
rs782143230
|
0.00001
|
NM_001360016.2(G6PD):c.267+7G>A
|
rs2070402994
|
0.00001
|
NM_001360016.2(G6PD):c.309C>T (p.Ala103=)
|
rs781967989
|
0.00001
|
NM_001360016.2(G6PD):c.333G>A (p.Gln111=)
|
rs782572765
|
0.00001
|
NM_001360016.2(G6PD):c.396A>C (p.Ser132=)
|
rs1557230597
|
0.00001
|
NM_001360016.2(G6PD):c.432G>A (p.Pro144=)
|
rs782618375
|
0.00001
|
NM_001360016.2(G6PD):c.447C>T (p.Ala149=)
|
rs1557230574
|
0.00001
|
NM_001360016.2(G6PD):c.485+13G>A
|
rs781898381
|
0.00001
|
NM_001360016.2(G6PD):c.516C>T (p.Pro172=)
|
rs781805733
|
0.00001
|
NM_001360016.2(G6PD):c.645-8C>T
|
rs782599047
|
0.00001
|
NM_001360016.2(G6PD):c.648T>C (p.Phe216=)
|
rs137852319
|
0.00001
|
NM_001360016.2(G6PD):c.654C>T (p.Asn218=)
|
rs1557230228
|
0.00001
|
NM_001360016.2(G6PD):c.663C>T (p.Phe221=)
|
rs782530472
|
0.00001
|
NM_001360016.2(G6PD):c.771-9C>T
|
rs1237524196
|
0.00001
|
NM_001360016.2(G6PD):c.774C>T (p.Asp258=)
|
rs1252251475
|
0.00001
|
NM_001360016.2(G6PD):c.865-5C>T
|
rs781920344
|
0.00001
|
NM_002049.4(GATA1):c.1029C>T (p.Ser343=)
|
rs1557020591
|
0.00001
|
NM_002049.4(GATA1):c.150G>A (p.Pro50=)
|
rs782678694
|
0.00001
|
NM_002049.4(GATA1):c.192G>A (p.Arg64=)
|
rs781912832
|
0.00001
|
NM_002049.4(GATA1):c.216C>T (p.Ser72=)
|
rs1180375270
|
0.00001
|
NM_002049.4(GATA1):c.220+10T>C
|
rs782691816
|
0.00001
|
NM_002049.4(GATA1):c.282C>T (p.Ala94=)
|
rs782123071
|
0.00001
|
NM_002049.4(GATA1):c.397C>T (p.Leu133=)
|
rs1557020203
|
0.00001
|
NM_002049.4(GATA1):c.599-13T>C
|
rs1557020294
|
0.00001
|
NM_002049.4(GATA1):c.798G>A (p.Thr266=)
|
rs184692721
|
0.00001
|
NM_002049.4(GATA1):c.949C>A (p.Arg317=)
|
rs781964937
|
0.00001
|
NM_002454.3(MTRR):c.1041A>G (p.Ala347=)
|
rs1331838959
|
0.00001
|
NM_002454.3(MTRR):c.1057+7G>T
|
rs767794040
|
0.00001
|
NM_002454.3(MTRR):c.1086G>A (p.Ala362=)
|
rs750381895
|
0.00001
|
NM_002454.3(MTRR):c.1131A>C (p.Arg377=)
|
rs1050662553
|
0.00001
|
NM_002454.3(MTRR):c.1147-6T>C
|
rs781413511
|
0.00001
|
NM_002454.3(MTRR):c.1147-8T>C
|
rs961118885
|
0.00001
|
NM_002454.3(MTRR):c.1149A>G (p.Ala383=)
|
rs748418818
|
0.00001
|
NM_002454.3(MTRR):c.1179T>C (p.Ser393=)
|
rs1333791112
|
0.00001
|
NM_002454.3(MTRR):c.1227G>A (p.Gly409=)
|
rs1250182164
|
0.00001
|
NM_002454.3(MTRR):c.1239T>C (p.Tyr413=)
|
rs755507944
|
0.00001
|
NM_002454.3(MTRR):c.123C>T (p.Ser41=)
|
rs759379396
|
0.00001
|
NM_002454.3(MTRR):c.1257T>C (p.Asp419=)
|
rs1292824472
|
0.00001
|
NM_002454.3(MTRR):c.1266C>T (p.Ala422=)
|
rs981600908
|
0.00001
|
NM_002454.3(MTRR):c.130-12C>G
|
rs764724859
|
0.00001
|
NM_002454.3(MTRR):c.1311A>G (p.Pro437=)
|
rs755561250
|
0.00001
|
NM_002454.3(MTRR):c.1371-10A>G
|
rs368498814
|
0.00001
|
NM_002454.3(MTRR):c.13C>T (p.Leu5=)
|
rs763313419
|
0.00001
|
NM_002454.3(MTRR):c.1443A>G (p.Thr481=)
|
rs1359474445
|
0.00001
|
NM_002454.3(MTRR):c.1527T>C (p.His509=)
|
rs1483514424
|
0.00001
|
NM_002454.3(MTRR):c.1533C>T (p.Asp511=)
|
rs1269324233
|
0.00001
|
NM_002454.3(MTRR):c.1546C>T (p.Leu516=)
|
rs1268958481
|
0.00001
|
NM_002454.3(MTRR):c.1593C>T (p.His531=)
|
rs778082216
|
0.00001
|
NM_002454.3(MTRR):c.1602T>C (p.Asp534=)
|
rs1738404887
|
0.00001
|
NM_002454.3(MTRR):c.1666C>T (p.Leu556=)
|
rs762466500
|
0.00001
|
NM_002454.3(MTRR):c.1676+10T>C
|
rs757713803
|
0.00001
|
NM_002454.3(MTRR):c.1677-6A>G
|
rs780299669
|
0.00001
|
NM_002454.3(MTRR):c.1764A>G (p.Leu588=)
|
rs766927577
|
0.00001
|
NM_002454.3(MTRR):c.1769+8A>G
|
rs892239997
|
0.00001
|
NM_002454.3(MTRR):c.1791T>C (p.Leu597=)
|
rs767659059
|
0.00001
|
NM_002454.3(MTRR):c.1857A>G (p.Glu619=)
|
rs1416687292
|
0.00001
|
NM_002454.3(MTRR):c.1869G>A (p.Lys623=)
|
rs768364684
|
0.00001
|
NM_002454.3(MTRR):c.1890G>A (p.Gln630=)
|
rs9282786
|
0.00001
|
NM_002454.3(MTRR):c.1917C>A (p.Ile639=)
|
rs778699591
|
0.00001
|
NM_002454.3(MTRR):c.1952+14G>A
|
rs557018438
|
0.00001
|
NM_002454.3(MTRR):c.1992T>C (p.Leu664=)
|
rs375588388
|
0.00001
|
NM_002454.3(MTRR):c.2031A>G (p.Leu677=)
|
rs367590648
|
0.00001
|
NM_002454.3(MTRR):c.2052C>T (p.Ala684=)
|
rs1427160228
|
0.00001
|
NM_002454.3(MTRR):c.2076C>T (p.Tyr692=)
|
rs984089159
|
0.00001
|
NM_002454.3(MTRR):c.303C>T (p.Tyr101=)
|
rs1748681766
|
0.00001
|
NM_002454.3(MTRR):c.378T>C (p.Thr126=)
|
rs577851734
|
0.00001
|
NM_002454.3(MTRR):c.399A>G (p.Val133=)
|
rs560392566
|
0.00001
|
NM_002454.3(MTRR):c.39A>G (p.Gly13=)
|
rs752509731
|
0.00001
|
NM_002454.3(MTRR):c.401+10G>A
|
rs760026002
|
0.00001
|
NM_002454.3(MTRR):c.401+9A>G
|
rs376866907
|
0.00001
|
NM_002454.3(MTRR):c.423G>A (p.Pro141=)
|
rs753947379
|
0.00001
|
NM_002454.3(MTRR):c.432T>G (p.Ala144=)
|
rs116439533
|
0.00001
|
NM_002454.3(MTRR):c.477A>G (p.Gly159=)
|
rs1270504511
|
0.00001
|
NM_002454.3(MTRR):c.498A>G (p.Ala166=)
|
rs747865209
|
0.00001
|
NM_002454.3(MTRR):c.504G>A (p.Pro168=)
|
rs746183496
|
0.00001
|
NM_002454.3(MTRR):c.588C>T (p.Phe196=)
|
rs776897289
|
0.00001
|
NM_002454.3(MTRR):c.594T>C (p.Asp198=)
|
rs773514527
|
0.00001
|
NM_002454.3(MTRR):c.612T>C (p.Ser204=)
|
rs374670570
|
0.00001
|
NM_002454.3(MTRR):c.708A>G (p.Ser236=)
|
rs372700667
|
0.00001
|
NM_002454.3(MTRR):c.744A>G (p.Glu248=)
|
rs749341418
|
0.00001
|
NM_002454.3(MTRR):c.807A>G (p.Ser269=)
|
rs1348478237
|
0.00001
|
NM_002454.3(MTRR):c.84A>G (p.Val28=)
|
rs1045121482
|
0.00001
|
NM_002454.3(MTRR):c.903+19T>A
|
rs930028739
|
0.00001
|
NM_002454.3(MTRR):c.904-10del
|
rs1467919139
|
0.00001
|
NM_002454.3(MTRR):c.936C>T (p.Ala312=)
|
rs777075473
|
0.00001
|
NM_002454.3(MTRR):c.942C>T (p.Ser314=)
|
rs770336060
|
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_005050.4(ABCD4):c.1028+17C>T
|
rs1290816055
|
0.00001
|
NM_005050.4(ABCD4):c.12G>C (p.Ala4=)
|
rs754280972
|
0.00001
|
NM_005050.4(ABCD4):c.1317G>A (p.Thr439=)
|
rs201586690
|
0.00001
|
NM_005050.4(ABCD4):c.1365G>A (p.Gly455=)
|
rs760206135
|
0.00001
|
NM_005050.4(ABCD4):c.1371A>G (p.Leu457=)
|
rs780349078
|
0.00001
|
NM_005050.4(ABCD4):c.1449C>T (p.Pro483=)
|
rs747273884
|
0.00001
|
NM_005050.4(ABCD4):c.158-7C>A
|
rs557930358
|
0.00001
|
NM_005050.4(ABCD4):c.1753-4G>A
|
rs554458015
|
0.00001
|
NM_005050.4(ABCD4):c.285+19T>C
|
rs369159114
|
0.00001
|
NM_005050.4(ABCD4):c.360C>T (p.His120=)
|
rs1050702853
|
0.00001
|
NM_005050.4(ABCD4):c.594C>T (p.Thr198=)
|
rs202070697
|
0.00001
|
NM_005050.4(ABCD4):c.669-7C>T
|
rs371152472
|
0.00001
|
NM_005050.4(ABCD4):c.6G>A (p.Ala2=)
|
rs1486429349
|
0.00001
|
NM_005050.4(ABCD4):c.9C>G (p.Val3=)
|
rs72542410
|
0.00001
|
NM_005142.3(CBLIF):c.192C>T (p.Ala64=)
|
rs1011636376
|
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_005334.3(HCFC1):c.1085-15T>C
|
rs782302951
|
0.00001
|
NM_005334.3(HCFC1):c.1113A>G (p.Gln371=)
|
rs1557116370
|
0.00001
|
NM_005334.3(HCFC1):c.138G>C (p.Val46=)
|
rs782634164
|
0.00001
|
NM_005334.3(HCFC1):c.1428C>T (p.Thr476=)
|
rs782186278
|
0.00001
|
NM_005334.3(HCFC1):c.1728C>T (p.Ile576=)
|
rs1557115850
|
0.00001
|
NM_005334.3(HCFC1):c.2029-17C>T
|
rs1184396495
|
0.00001
|
NM_005334.3(HCFC1):c.2196C>T (p.Pro732=)
|
rs1322440288
|
0.00001
|
NM_005334.3(HCFC1):c.2232G>A (p.Ala744=)
|
rs1557115422
|
0.00001
|
NM_005334.3(HCFC1):c.2316C>T (p.Ile772=)
|
rs782276292
|
0.00001
|
NM_005334.3(HCFC1):c.2475C>T (p.His825=)
|
rs782533163
|
0.00001
|
NM_005334.3(HCFC1):c.2628C>T (p.Gly876=)
|
rs1557115062
|
0.00001
|
NM_005334.3(HCFC1):c.2636-16G>T
|
rs782607911
|
0.00001
|
NM_005334.3(HCFC1):c.2691G>A (p.Ala897=)
|
rs374223163
|
0.00001
|
NM_005334.3(HCFC1):c.3342G>A (p.Thr1114=)
|
rs868910589
|
0.00001
|
NM_005334.3(HCFC1):c.3558G>A (p.Pro1186=)
|
rs782676033
|
0.00001
|
NM_005334.3(HCFC1):c.3585G>A (p.Pro1195=)
|
rs1204221011
|
0.00001
|
NM_005334.3(HCFC1):c.3941A>G (p.Gln1314Arg)
|
rs781875988
|
0.00001
|
NM_005334.3(HCFC1):c.3943A>C (p.Arg1315=)
|
rs782766895
|
0.00001
|
NM_005334.3(HCFC1):c.4125C>T (p.Ala1375=)
|
rs946537625
|
0.00001
|
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly)
|
rs781783048
|
0.00001
|
NM_005334.3(HCFC1):c.4158C>T (p.Thr1386=)
|
rs782136932
|
0.00001
|
NM_005334.3(HCFC1):c.4333+11G>T
|
rs1557113474
|
0.00001
|
NM_005334.3(HCFC1):c.477C>T (p.Ser159=)
|
rs1272514582
|
0.00001
|
NM_005334.3(HCFC1):c.4881G>A (p.Thr1627=)
|
rs368086196
|
0.00001
|
NM_005334.3(HCFC1):c.4942+9C>T
|
rs782480118
|
0.00001
|
NM_005334.3(HCFC1):c.4984G>A (p.Val1662Met)
|
rs782467999
|
0.00001
|
NM_005334.3(HCFC1):c.5172C>T (p.Asn1724=)
|
rs372903122
|
0.00001
|
NM_005334.3(HCFC1):c.579C>T (p.Tyr193=)
|
rs377138805
|
0.00001
|
NM_005334.3(HCFC1):c.5889C>T (p.Ser1963=)
|
rs2065298662
|
0.00001
|
NM_005334.3(HCFC1):c.6069-16T>C
|
rs1184614214
|
0.00001
|
NM_005334.3(HCFC1):c.624C>T (p.Tyr208=)
|
rs1242952055
|
0.00001
|
NM_005334.3(HCFC1):c.648C>G (p.Ser216=)
|
rs1557117476
|
0.00001
|
NM_005334.3(HCFC1):c.684G>A (p.Arg228=)
|
rs781873669
|
0.00001
|
NM_005334.3(HCFC1):c.753G>A (p.Ala251=)
|
rs1557117195
|
0.00001
|
NM_006363.6(SEC23B):c.1062T>C (p.Leu354=)
|
rs758029042
|
0.00001
|
NM_006363.6(SEC23B):c.1234-11A>G
|
rs187699090
|
0.00001
|
NM_006363.6(SEC23B):c.123C>T (p.Leu41=)
|
rs554409729
|
0.00001
|
NM_006363.6(SEC23B):c.1299G>A (p.Pro433=)
|
rs767683935
|
0.00001
|
NM_006363.6(SEC23B):c.1380C>A (p.Gly460=)
|
rs201656419
|
0.00001
|
NM_006363.6(SEC23B):c.1413C>T (p.Thr471=)
|
rs900752773
|
0.00001
|
NM_006363.6(SEC23B):c.1569T>C (p.Ala523=)
|
rs921580564
|
0.00001
|
NM_006363.6(SEC23B):c.1815C>T (p.Tyr605=)
|
rs779351917
|
0.00001
|
NM_006363.6(SEC23B):c.1992+12T>C
|
rs780986610
|
0.00001
|
NM_006363.6(SEC23B):c.711G>A (p.Lys237=)
|
rs773579451
|
0.00001
|
NM_015506.3(MMACHC):c.114C>T (p.Ala38=)
|
rs372262322
|
0.00001
|
NM_015506.3(MMACHC):c.159C>T (p.Leu53=)
|
rs371927733
|
0.00001
|
NM_015506.3(MMACHC):c.180C>T (p.Asp60=)
|
rs535215325
|
0.00001
|
NM_015506.3(MMACHC):c.199T>C (p.Leu67=)
|
rs1272042617
|
0.00001
|
NM_015506.3(MMACHC):c.213C>T (p.His71=)
|
rs746112343
|
0.00001
|
NM_015506.3(MMACHC):c.258T>C (p.His86=)
|
rs1005452717
|
0.00001
|
NM_015506.3(MMACHC):c.276+10G>A
|
rs1229858789
|
0.00001
|
NM_015506.3(MMACHC):c.282C>T (p.Leu94=)
|
rs751229877
|
0.00001
|
NM_015506.3(MMACHC):c.40G>A (p.Asp14Asn)
|
rs563710045
|
0.00001
|
NM_015506.3(MMACHC):c.423G>A (p.Gly141=)
|
rs1035201847
|
0.00001
|
NM_015506.3(MMACHC):c.477C>T (p.Ala159=)
|
rs747698015
|
0.00001
|
NM_015506.3(MMACHC):c.48A>G (p.Leu16=)
|
rs1366120426
|
0.00001
|
NM_015506.3(MMACHC):c.520C>T (p.Leu174=)
|
rs1298700969
|
0.00001
|
NM_015506.3(MMACHC):c.570C>T (p.Ile190=)
|
rs769162698
|
0.00001
|
NM_015506.3(MMACHC):c.633C>T (p.Pro211=)
|
rs577804554
|
0.00001
|
NM_015506.3(MMACHC):c.636G>A (p.Gln212=)
|
rs774357624
|
0.00001
|
NM_015506.3(MMACHC):c.687A>G (p.Gln229=)
|
rs369621922
|
0.00001
|
NM_015506.3(MMACHC):c.696C>T (p.Ala232=)
|
rs767496391
|
0.00001
|
NM_015506.3(MMACHC):c.726G>A (p.Lys242=)
|
rs750002717
|
0.00001
|
NM_015506.3(MMACHC):c.72C>T (p.Tyr24=)
|
rs755881820
|
0.00001
|
NM_015506.3(MMACHC):c.75C>A (p.Pro25=)
|
rs749003802
|
0.00001
|
NM_015506.3(MMACHC):c.771C>G (p.Pro257=)
|
rs376037114
|
0.00001
|
NM_015506.3(MMACHC):c.792C>T (p.Ser264=)
|
rs1458150108
|
0.00001
|
NM_015506.3(MMACHC):c.804C>T (p.Ser268=)
|
rs941778714
|
0.00001
|
NM_015506.3(MMACHC):c.828A>G (p.Pro276=)
|
rs1288893138
|
0.00001
|
NM_015702.3(MMADHC):c.117G>A (p.Ser39=)
|
rs1448387303
|
0.00001
|
NM_015702.3(MMADHC):c.237T>C (p.Gly79=)
|
rs763521620
|
0.00001
|
NM_015702.3(MMADHC):c.372+7T>C
|
rs368516017
|
0.00001
|
NM_015702.3(MMADHC):c.373-16T>C
|
rs754844727
|
0.00001
|
NM_015702.3(MMADHC):c.373-8C>A
|
rs766361763
|
0.00001
|
NM_015702.3(MMADHC):c.432C>G (p.Ala144=)
|
rs1478523517
|
0.00001
|
NM_015702.3(MMADHC):c.466T>C (p.Leu156=)
|
rs778778537
|
0.00001
|
NM_015702.3(MMADHC):c.561T>G (p.Thr187=)
|
rs1282238457
|
0.00001
|
NM_015702.3(MMADHC):c.585T>C (p.Ile195=)
|
rs757784250
|
0.00001
|
NM_015702.3(MMADHC):c.624T>C (p.Ala208=)
|
rs1485998377
|
0.00001
|
NM_015702.3(MMADHC):c.660T>C (p.Tyr220=)
|
rs1427942673
|
0.00001
|
NM_015702.3(MMADHC):c.765T>C (p.Ser255=)
|
rs376860199
|
0.00001
|
NM_015702.3(MMADHC):c.828A>G (p.Val276=)
|
rs937318527
|
0.00001
|
NM_015702.3(MMADHC):c.855A>T (p.Pro285=)
|
rs768988562
|
0.00001
|
NM_015702.3(MMADHC):c.9+12A>C
|
rs570608507
|
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_018368.4(LMBRD1):c.1017T>C (p.Ser339=)
|
rs558926049
|
0.00001
|
NM_018368.4(LMBRD1):c.1404A>T (p.Ala468=)
|
rs1382933312
|
0.00001
|
NM_018368.4(LMBRD1):c.1417+9A>G
|
rs763882735
|
0.00001
|
NM_018368.4(LMBRD1):c.1418-20T>A
|
rs758519179
|
0.00001
|
NM_018368.4(LMBRD1):c.1510-19G>A
|
rs1484305691
|
0.00001
|
NM_018368.4(LMBRD1):c.1605C>G (p.Pro535=)
|
rs771408766
|
0.00001
|
NM_018368.4(LMBRD1):c.247-4C>T
|
rs1321930777
|
0.00001
|
NM_018368.4(LMBRD1):c.291A>G (p.Val97=)
|
rs752864942
|
0.00001
|
NM_018368.4(LMBRD1):c.867T>A (p.Ile289=)
|
rs747318789
|
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_030943.4(AMN):c.1200T>C (p.Ala400=)
|
rs1410658337
|
0.00001
|
NM_030943.4(AMN):c.207+9G>A
|
rs765056352
|
0.00001
|
NM_030943.4(AMN):c.296-10T>C
|
rs1229295738
|
0.00001
|
NM_030943.4(AMN):c.492C>G (p.Arg164=)
|
rs1388154450
|
0.00001
|
NM_030943.4(AMN):c.760+10C>T
|
rs1312771036
|
0.00001
|
NM_030943.4(AMN):c.969G>A (p.Arg323=)
|
rs899760936
|
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.2097+8A>C
|
rs730881642
|
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_033022.4(RPS24):c.234C>T (p.Ser78=)
|
rs1177372076
|
0.00001
|
NM_033022.4(RPS24):c.264A>G (p.Lys88=)
|
rs1476221269
|
0.00001
|
NM_033022.4(RPS24):c.3+7C>T
|
rs759947869
|
0.00001
|
NM_033022.4(RPS24):c.324G>A (p.Lys108=)
|
rs746433565
|
0.00001
|
NM_033022.4(RPS24):c.333G>A (p.Lys111=)
|
rs144291219
|
0.00001
|
NM_033022.4(RPS24):c.390+14A>G
|
rs1158604804
|
0.00001
|
NM_033022.4(RPS24):c.99G>A (p.Ala33=)
|
rs772511022
|
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_182916.3(TRNT1):c.1017T>C (p.Ser339=)
|
rs1325737127
|
0.00001
|
NM_182916.3(TRNT1):c.1035C>T (p.Pro345=)
|
rs199673739
|
0.00001
|
NM_182916.3(TRNT1):c.1056+12C>G
|
rs376137909
|
0.00001
|
NM_182916.3(TRNT1):c.1155A>G (p.Pro385=)
|
rs779471673
|
0.00001
|
NM_182916.3(TRNT1):c.1236A>G (p.Arg412=)
|
rs1006625149
|
0.00001
|
NM_182916.3(TRNT1):c.1296G>A (p.Lys432=)
|
rs1014393756
|
0.00001
|
NM_182916.3(TRNT1):c.149-16T>C
|
rs766739333
|
0.00001
|
NM_182916.3(TRNT1):c.149-9T>C
|
rs1705382741
|
0.00001
|
NM_182916.3(TRNT1):c.27C>T (p.His9=)
|
rs776254990
|
0.00001
|
NM_182916.3(TRNT1):c.285G>A (p.Ser95=)
|
rs768744806
|
0.00001
|
NM_182916.3(TRNT1):c.297G>A (p.Arg99=)
|
rs1239457572
|
0.00001
|
NM_182916.3(TRNT1):c.342+11A>G
|
rs779037398
|
0.00001
|
NM_182916.3(TRNT1):c.342+12G>T
|
rs1202757381
|
0.00001
|
NM_182916.3(TRNT1):c.342+9A>G
|
rs1235151154
|
0.00001
|
NM_182916.3(TRNT1):c.435G>A (p.Gln145=)
|
rs753701052
|
0.00001
|
NM_182916.3(TRNT1):c.45T>C (p.Arg15=)
|
rs759180902
|
0.00001
|
NM_182916.3(TRNT1):c.481+20C>T
|
rs575404057
|
0.00001
|
NM_182916.3(TRNT1):c.482-14T>C
|
rs1352587455
|
0.00001
|
NM_182916.3(TRNT1):c.482-20C>T
|
rs773153767
|
0.00001
|
NM_182916.3(TRNT1):c.4C>T (p.Leu2=)
|
rs559472880
|
0.00001
|
NM_182916.3(TRNT1):c.609-18G>A
|
rs758866961
|
0.00001
|
NM_182916.3(TRNT1):c.750T>C (p.His250=)
|
rs996651581
|
0.00001
|
NM_182916.3(TRNT1):c.933G>A (p.Leu311=)
|
rs1575066937
|
0.00001
|
NM_182916.3(TRNT1):c.93G>A (p.Lys31=)
|
rs141005872
|
0.00001
|
NM_206965.2(FTCD):c.1194C>T (p.Phe398=)
|
rs2079118606
|
0.00001
|
NM_206965.2(FTCD):c.1261-19T>G
|
rs760892016
|
0.00001
|
NM_206965.2(FTCD):c.1305-17C>T
|
rs760169779
|
0.00001
|
NM_206965.2(FTCD):c.1314G>A (p.Ala438=)
|
rs777750537
|
0.00001
|
NM_206965.2(FTCD):c.1353G>A (p.Pro451=)
|
rs763845321
|
0.00001
|
NM_206965.2(FTCD):c.1444-19C>G
|
rs757674235
|
0.00001
|
NM_206965.2(FTCD):c.1590A>G (p.Ala530=)
|
rs1381661953
|
0.00001
|
NM_206965.2(FTCD):c.282C>T (p.Ile94=)
|
rs368164003
|
0.00001
|
NM_206965.2(FTCD):c.363G>T (p.Val121=)
|
rs2079329446
|
0.00001
|
NM_206965.2(FTCD):c.534G>A (p.Ala178=)
|
rs557774996
|
0.00001
|
NC_000010.10:g.(?_79799952)_(79799964_?)dup
|
|
|
NM_000096.4(CP):c.1029T>C (p.His343=)
|
|
|
NM_000096.4(CP):c.1036+15C>T
|
|
|
NM_000096.4(CP):c.1037-16_1037-13del
|
rs760010903
|
|
NM_000096.4(CP):c.1037-5T>C
|
|
|
NM_000096.4(CP):c.1056C>T (p.Phe352=)
|
|
|
NM_000096.4(CP):c.1125C>T (p.Tyr375=)
|
|
|
NM_000096.4(CP):c.1208+18A>G
|
|
|
NM_000096.4(CP):c.1218G>A (p.Ala406=)
|
|
|
NM_000096.4(CP):c.1254C>T (p.Gly418=)
|
|
|
NM_000096.4(CP):c.1269G>A (p.Leu423=)
|
rs2108278024
|
|
NM_000096.4(CP):c.1320C>T (p.Gly440=)
|
|
|
NM_000096.4(CP):c.141T>C (p.Val47=)
|
|
|
NM_000096.4(CP):c.1431G>A (p.Pro477=)
|
rs763429281
|
|
NM_000096.4(CP):c.1467A>G (p.Thr489=)
|
|
|
NM_000096.4(CP):c.1501+18T>A
|
rs2108271964
|
|
NM_000096.4(CP):c.1551T>C (p.Tyr517=)
|
|
|
NM_000096.4(CP):c.1680C>T (p.Cys560=)
|
rs1553761342
|
|
NM_000096.4(CP):c.1698T>C (p.His566=)
|
|
|
NM_000096.4(CP):c.1714-13_1714-9del
|
rs2108244342
|
|
NM_000096.4(CP):c.1758T>C (p.Asp586=)
|
|
|
NM_000096.4(CP):c.1864+12A>G
|
|
|
NM_000096.4(CP):c.1865-12C>G
|
|
|
NM_000096.4(CP):c.1959C>T (p.Ala653=)
|
|
|
NM_000096.4(CP):c.1995T>C (p.Tyr665=)
|
rs1351532741
|
|
NM_000096.4(CP):c.2011C>T (p.Arg671Trp)
|
|
|
NM_000096.4(CP):c.2052G>A (p.Thr684=)
|
|
|
NM_000096.4(CP):c.210C>T (p.Ala70=)
|
|
|
NM_000096.4(CP):c.2133A>G (p.Gln711=)
|
|
|
NM_000096.4(CP):c.2202C>T (p.Tyr734=)
|
rs2108235775
|
|
NM_000096.4(CP):c.2263C>T (p.Leu755=)
|
rs763571936
|
|
NM_000096.4(CP):c.2285+9C>G
|
|
|
NM_000096.4(CP):c.2286-15G>A
|
rs34861155
|
|
NM_000096.4(CP):c.2286-18G>C
|
|
|
NM_000096.4(CP):c.2316G>A (p.Glu772=)
|
|
|
NM_000096.4(CP):c.2331A>C (p.Ser777=)
|
rs746132110
|
|
NM_000096.4(CP):c.2367T>C (p.Asp789=)
|
rs1725922755
|
|
NM_000096.4(CP):c.240T>C (p.Phe80=)
|
|
|
NM_000096.4(CP):c.2421T>A (p.Ile807=)
|
rs998289672
|
|
NM_000096.4(CP):c.2514G>A (p.Gly838=)
|
rs1238808502
|
|
NM_000096.4(CP):c.2554+10G>A
|
|
|
NM_000096.4(CP):c.2555-12T>C
|
|
|
NM_000096.4(CP):c.2555-4T>G
|
|
|
NM_000096.4(CP):c.2622T>C (p.Cys874=)
|
|
|
NM_000096.4(CP):c.2662-13T>C
|
rs200646301
|
|
NM_000096.4(CP):c.2704A>C (p.Arg902=)
|
rs2108216869
|
|
NM_000096.4(CP):c.2811A>G (p.Thr937=)
|
|
|
NM_000096.4(CP):c.2835A>G (p.Val945=)
|
rs2108216294
|
|
NM_000096.4(CP):c.2878+9C>T
|
rs769666265
|
|
NM_000096.4(CP):c.2925C>T (p.His975=)
|
|
|
NM_000096.4(CP):c.2934T>C (p.Asp978=)
|
|
|
NM_000096.4(CP):c.2977T>C (p.Leu993=)
|
|
|
NM_000096.4(CP):c.3003T>C (p.His1001=)
|
|
|
NM_000096.4(CP):c.3018+8C>G
|
|
|
NM_000096.4(CP):c.3018+8C>T
|
|
|
NM_000096.4(CP):c.3018+9_3018+12dup
|
rs1342162840
|
|
NM_000096.4(CP):c.306A>G (p.Gly102=)
|
|
|
NM_000096.4(CP):c.3076C>T (p.Leu1026=)
|
|
|
NM_000096.4(CP):c.3111A>G (p.Leu1037=)
|
|
|
NM_000096.4(CP):c.3181+11A>C
|
|
|
NM_000096.4(CP):c.3182-7T>A
|
|
|
NM_000096.4(CP):c.3186C>A (p.Thr1062=)
|
|
|
NM_000096.4(CP):c.390T>A (p.His130Gln)
|
|
|
NM_000096.4(CP):c.395-14A>T
|
|
|
NM_000096.4(CP):c.395-20C>T
|
|
|
NM_000096.4(CP):c.40A>G (p.Ser14Gly)
|
|
|
NM_000096.4(CP):c.411T>C (p.Asp137=)
|
rs747012860
|
|
NM_000096.4(CP):c.438T>C (p.Asp146=)
|
rs778389238
|
|
NM_000096.4(CP):c.465T>C (p.Tyr155=)
|
|
|
NM_000096.4(CP):c.468A>C (p.Thr156=)
|
rs532168420
|
|
NM_000096.4(CP):c.552T>C (p.Asp184=)
|
|
|
NM_000096.4(CP):c.607+18T>A
|
|
|
NM_000096.4(CP):c.607+18T>C
|
|
|
NM_000096.4(CP):c.607+9_607+11del
|
|
|
NM_000096.4(CP):c.608-4_608-3insT
|
|
|
NM_000096.4(CP):c.608-6C>T
|
|
|
NM_000096.4(CP):c.738T>C (p.Val246=)
|
rs1727947362
|
|
NM_000096.4(CP):c.746A>C (p.Asp249Ala)
|
|
|
NM_000096.4(CP):c.782-10T>C
|
|
|
NM_000096.4(CP):c.782-9G>T
|
rs566719310
|
|
NM_000096.4(CP):c.909A>G (p.Ala303=)
|
|
|
NM_000096.4(CP):c.966T>C (p.Phe322=)
|
rs1727813358
|
|
NM_000096.4(CP):c.984C>T (p.Ala328=)
|
rs2108290269
|
|
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.3766-12T>C
|
|
|
NM_000135.4(FANCA):c.3766-14_3766-13dup
|
|
|
NM_000135.4(FANCA):c.3766-15C>G
|
rs749085160
|
|
NM_000135.4(FANCA):c.3766-15C>T
|
rs749085160
|
|
NM_000135.4(FANCA):c.3766-16A>T
|
|
|
NM_000135.4(FANCA):c.3766-18G>A
|
|
|
NM_000135.4(FANCA):c.3766-19T>C
|
rs927937594
|
|
NM_000135.4(FANCA):c.3766-20G>T
|
|
|
NM_000135.4(FANCA):c.3766-22_3766-20del
|
|
|
NM_000135.4(FANCA):c.3766-5T>C
|
rs2151716900
|
|
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.3828+10A>C
|
|
|
NM_000135.4(FANCA):c.3828+12C>A
|
|
|
NM_000135.4(FANCA):c.3828+12C>G
|
|
|
NM_000135.4(FANCA):c.3828+15_3828+43del
|
|
|
NM_000135.4(FANCA):c.3828+16C>A
|
|
|
NM_000135.4(FANCA):c.3828+16C>T
|
rs900858198
|
|
NM_000135.4(FANCA):c.3828+17C>T
|
|
|
NM_000135.4(FANCA):c.3828+7C>G
|
rs1443117288
|
|
NM_000135.4(FANCA):c.3828+7C>T
|
rs1443117288
|
|
NM_000135.4(FANCA):c.3829-14C>T
|
rs762916608
|
|
NM_000135.4(FANCA):c.3829-16C>G
|
|
|
NM_000135.4(FANCA):c.3829-4A>T
|
rs2151714907
|
|
NM_000135.4(FANCA):c.3829-7T>C
|
|
|
NM_000135.4(FANCA):c.3829-8G>A
|
|
|
NM_000135.4(FANCA):c.3829-9G>T
|
rs776077648
|
|
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.3934+10_3934+11del
|
rs1491270557
|
|
NM_000135.4(FANCA):c.3934+11C>T
|
|
|
NM_000135.4(FANCA):c.3934+12G>A
|
|
|
NM_000135.4(FANCA):c.3934+13C>A
|
|
|
NM_000135.4(FANCA):c.3934+16_3934+18del
|
|
|
NM_000135.4(FANCA):c.3934+20G>A
|
rs2151714503
|
|
NM_000135.4(FANCA):c.3934+7_3934+8del
|
rs2151714552
|
|
NM_000135.4(FANCA):c.3934+8A>T
|
|
|
NM_000135.4(FANCA):c.3934+9C>G
|
rs201323033
|
|
NM_000135.4(FANCA):c.3935-10G>C
|
rs2062071933
|
|
NM_000135.4(FANCA):c.3935-16_3935-15delinsTC
|
rs2151713121
|
|
NM_000135.4(FANCA):c.3935-20G>A
|
|
|
NM_000135.4(FANCA):c.3935-7G>A
|
rs2062071481
|
|
NM_000135.4(FANCA):c.3935-9G>C
|
rs9282680
|
|
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.4010+11C>A
|
|
|
NM_000135.4(FANCA):c.4010+11C>T
|
|
|
NM_000135.4(FANCA):c.4010+13A>T
|
|
|
NM_000135.4(FANCA):c.4010+14C>A
|
|
|
NM_000135.4(FANCA):c.4010+15_4010+20del
|
|
|
NM_000135.4(FANCA):c.4010+16G>A
|
|
|
NM_000135.4(FANCA):c.4010+17G>T
|
rs1318852669
|
|
NM_000135.4(FANCA):c.4010+18del
|
|
|
NM_000135.4(FANCA):c.4010+19C>T
|
rs978377623
|
|
NM_000135.4(FANCA):c.4010+20T>G
|
|
|
NM_000135.4(FANCA):c.4010+7C>T
|
|
|
NM_000135.4(FANCA):c.4010+9A>C
|
rs1383806921
|
|
NM_000135.4(FANCA):c.4010+9A>G
|
rs1383806921
|
|
NM_000135.4(FANCA):c.4011-14G>A
|
|
|
NM_000135.4(FANCA):c.4011-15T>C
|
|
|
NM_000135.4(FANCA):c.4011-16_4011-15del
|
|
|
NM_000135.4(FANCA):c.4011-19A>G
|
rs2151712162
|
|
NM_000135.4(FANCA):c.4011-6C>T
|
|
|
NM_000135.4(FANCA):c.4011-7C>T
|
rs1463777596
|
|
NM_000135.4(FANCA):c.4011-8A>C
|
|
|
NM_000135.4(FANCA):c.4011-9T>C
|
rs2151712130
|
|
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.4167+11G>C
|
|
|
NM_000135.4(FANCA):c.4167+12G>A
|
rs2151711547
|
|
NM_000135.4(FANCA):c.4167+15C>T
|
|
|
NM_000135.4(FANCA):c.4167+17G>A
|
|
|
NM_000135.4(FANCA):c.4167+19C>A
|
|
|
NM_000135.4(FANCA):c.4167+20C>A
|
|
|
NM_000135.4(FANCA):c.4167+74del
|
|
|
NM_000135.4(FANCA):c.4167+8C>G
|
rs772665586
|
|
NM_000135.4(FANCA):c.4167+8dup
|
|
|
NM_000135.4(FANCA):c.4168-10T>C
|
rs2151711012
|
|
NM_000135.4(FANCA):c.4168-13G>C
|
|
|
NM_000135.4(FANCA):c.4168-14T>C
|
rs2151711032
|
|
NM_000135.4(FANCA):c.4168-19T>G
|
|
|
NM_000135.4(FANCA):c.4168-4C>T
|
rs775180524
|
|
NM_000135.4(FANCA):c.4168-5T>C
|
rs2151710982
|
|
NM_000135.4(FANCA):c.4168-6C>G
|
|
|
NM_000135.4(FANCA):c.4168-6C>T
|
|
|
NM_000135.4(FANCA):c.4168-8C>G
|
rs1235913738
|
|
NM_000135.4(FANCA):c.4168-8CT[2]
|
rs2062047195
|
|
NM_000135.4(FANCA):c.4168-9T>C
|
rs1235253861
|
|
NM_000135.4(FANCA):c.4168-9T>G
|
rs1235253861
|
|
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.4260+13dup
|
|
|
NM_000135.4(FANCA):c.4260+14G>A
|
|
|
NM_000135.4(FANCA):c.4260+16C>T
|
|
|
NM_000135.4(FANCA):c.4260+19C>A
|
|
|
NM_000135.4(FANCA):c.4260+20C>T
|
rs1019949093
|
|
NM_000135.4(FANCA):c.4260+7T>G
|
|
|
NM_000135.4(FANCA):c.4260+8_4260+31del
|
rs2151710539
|
|
NM_000135.4(FANCA):c.4260+9A>G
|
rs2151710610
|
|
NM_000135.4(FANCA):c.4261-10T>C
|
rs2151710055
|
|
NM_000135.4(FANCA):c.4261-10TC[4]
|
rs746081933
|
|
NM_000135.4(FANCA):c.4261-12C>A
|
|
|
NM_000135.4(FANCA):c.4261-12C>T
|
rs751989527
|
|
NM_000135.4(FANCA):c.4261-16T>C
|
|
|
NM_000135.4(FANCA):c.4261-17C>G
|
|
|
NM_000135.4(FANCA):c.4261-18C>T
|
|
|
NM_000135.4(FANCA):c.4261-20G>T
|
|
|
NM_000135.4(FANCA):c.4261-4A>T
|
rs2062032155
|
|
NM_000135.4(FANCA):c.4261-5C>T
|
rs2151710015
|
|
NM_000135.4(FANCA):c.4261-8T>C
|
rs372268907
|
|
NM_000135.4(FANCA):c.4261-9C>T
|
rs368506826
|
|
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_000254.3(MTR):c.1011T>A (p.Ala337=)
|
|
|
NM_000254.3(MTR):c.1029T>C (p.Pro343=)
|
|
|
NM_000254.3(MTR):c.1044C>G (p.Ala348=)
|
|
|
NM_000254.3(MTR):c.1075+12A>C
|
|
|
NM_000254.3(MTR):c.1075+14A>T
|
|
|
NM_000254.3(MTR):c.1076-11C>G
|
rs186367553
|
|
NM_000254.3(MTR):c.1076-19A>T
|
|
|
NM_000254.3(MTR):c.1076-20A>T
|
|
|
NM_000254.3(MTR):c.1076-9C>T
|
|
|
NM_000254.3(MTR):c.1077T>G (p.Gly359=)
|
rs745469748
|
|
NM_000254.3(MTR):c.1092G>A (p.Arg364=)
|
|
|
NM_000254.3(MTR):c.1095T>C (p.Ile365=)
|
|
|
NM_000254.3(MTR):c.1101G>A (p.Pro367=)
|
rs763018049
|
|
NM_000254.3(MTR):c.1164A>G (p.Lys388=)
|
|
|
NM_000254.3(MTR):c.1176A>C (p.Ala392=)
|
|
|
NM_000254.3(MTR):c.1176A>G (p.Ala392=)
|
|
|
NM_000254.3(MTR):c.1188+19C>T
|
|
|
NM_000254.3(MTR):c.1188+7A>G
|
|
|
NM_000254.3(MTR):c.1189-11T>C
|
rs2103148397
|
|
NM_000254.3(MTR):c.1189-14C>G
|
|
|
NM_000254.3(MTR):c.1189-18C>T
|
|
|
NM_000254.3(MTR):c.1189-20C>T
|
|
|
NM_000254.3(MTR):c.1189-7C>T
|
|
|
NM_000254.3(MTR):c.1197G>A (p.Leu399=)
|
|
|
NM_000254.3(MTR):c.1206C>T (p.Ala402=)
|
|
|
NM_000254.3(MTR):c.1239G>A (p.Leu413=)
|
|
|
NM_000254.3(MTR):c.1248C>T (p.Asn416=)
|
|
|
NM_000254.3(MTR):c.1264C>T (p.Leu422=)
|
|
|
NM_000254.3(MTR):c.1266A>G (p.Leu422=)
|
rs984927112
|
|
NM_000254.3(MTR):c.1269T>C (p.Asp423=)
|
|
|
NM_000254.3(MTR):c.126G>A (p.Gln42=)
|
|
|
NM_000254.3(MTR):c.1308T>G (p.Ala436=)
|
|
|
NM_000254.3(MTR):c.1311C>A (p.Ser437=)
|
|
|
NM_000254.3(MTR):c.1323C>T (p.Ile441=)
|
|
|
NM_000254.3(MTR):c.1326A>G (p.Ala442=)
|
|
|
NM_000254.3(MTR):c.1329+14T>C
|
|
|
NM_000254.3(MTR):c.1329+15_1329+16del
|
|
|
NM_000254.3(MTR):c.1329+16T>C
|
|
|
NM_000254.3(MTR):c.1329+16del
|
|
|
NM_000254.3(MTR):c.1329+19T>G
|
|
|
NM_000254.3(MTR):c.1329+9A>G
|
|
|
NM_000254.3(MTR):c.1330-10C>T
|
|
|
NM_000254.3(MTR):c.1330-12T>C
|
|
|
NM_000254.3(MTR):c.1330-5C>A
|
|
|
NM_000254.3(MTR):c.1335T>G (p.Pro445=)
|
|
|
NM_000254.3(MTR):c.1344C>T (p.Ile448=)
|
|
|
NM_000254.3(MTR):c.1350C>G (p.Ser450=)
|
|
|
NM_000254.3(MTR):c.135G>A (p.Lys45=)
|
rs747724978
|
|
NM_000254.3(MTR):c.1362T>G (p.Ala454=)
|
rs376684560
|
|
NM_000254.3(MTR):c.136C>T (p.Leu46=)
|
|
|
NM_000254.3(MTR):c.1377G>T (p.Gly459=)
|
|
|
NM_000254.3(MTR):c.1398G>A (p.Lys466=)
|
|
|
NM_000254.3(MTR):c.1404T>C (p.Ile468=)
|
|
|
NM_000254.3(MTR):c.1413C>T (p.Ser471=)
|
|
|
NM_000254.3(MTR):c.141C>T (p.Asn47=)
|
|
|
NM_000254.3(MTR):c.1420C>T (p.Leu474=)
|
|
|
NM_000254.3(MTR):c.1470G>A (p.Lys490=)
|
|
|
NM_000254.3(MTR):c.1488G>C (p.Val496=)
|
|
|
NM_000254.3(MTR):c.1491C>T (p.Val497=)
|
|
|
NM_000254.3(MTR):c.1497T>A (p.Ala499=)
|
|
|
NM_000254.3(MTR):c.1497T>C (p.Ala499=)
|
|
|
NM_000254.3(MTR):c.1497T>G (p.Ala499=)
|
|
|
NM_000254.3(MTR):c.1506A>G (p.Glu502=)
|
|
|
NM_000254.3(MTR):c.1515+14T>G
|
|
|
NM_000254.3(MTR):c.1515+16T>C
|
|
|
NM_000254.3(MTR):c.1515+17G>A
|
|
|
NM_000254.3(MTR):c.1516-11C>G
|
|
|
NM_000254.3(MTR):c.1516-11C>T
|
|
|
NM_000254.3(MTR):c.1516-5C>T
|
|
|
NM_000254.3(MTR):c.1516-6C>G
|
|
|
NM_000254.3(MTR):c.1516-6C>T
|
|
|
NM_000254.3(MTR):c.1516-7T>G
|
|
|
NM_000254.3(MTR):c.1518A>C (p.Ala506=)
|
|
|
NM_000254.3(MTR):c.1527A>T (p.Thr509=)
|
|
|
NM_000254.3(MTR):c.1530C>T (p.Asp510=)
|
|
|
NM_000254.3(MTR):c.1545G>A (p.Val515=)
|
|
|
NM_000254.3(MTR):c.1566G>T (p.Leu522=)
|
|
|
NM_000254.3(MTR):c.1575A>G (p.Lys525=)
|
rs199700767
|
|
NM_000254.3(MTR):c.1579C>T (p.Leu527=)
|
|
|
NM_000254.3(MTR):c.1581G>C (p.Leu527=)
|
|
|
NM_000254.3(MTR):c.1596T>C (p.Asn532=)
|
|
|
NM_000254.3(MTR):c.1614T>C (p.Pro538=)
|
|
|
NM_000254.3(MTR):c.1620C>T (p.Ile540=)
|
|
|
NM_000254.3(MTR):c.1647A>G (p.Glu549=)
|
rs1171736020
|
|
NM_000254.3(MTR):c.1656G>A (p.Leu552=)
|
|
|
NM_000254.3(MTR):c.1689C>A (p.Val563=)
|
|
|
NM_000254.3(MTR):c.1689C>T (p.Val563=)
|
|
|
NM_000254.3(MTR):c.1695+10G>A
|
|
|
NM_000254.3(MTR):c.1695+11G>A
|
|
|
NM_000254.3(MTR):c.1695+13A>G
|
|
|
NM_000254.3(MTR):c.1695+13A>T
|
|
|
NM_000254.3(MTR):c.1695+14T>C
|
|
|
NM_000254.3(MTR):c.1695+17T>G
|
|
|
NM_000254.3(MTR):c.1695+18C>T
|
|
|
NM_000254.3(MTR):c.1695+20C>T
|
|
|
NM_000254.3(MTR):c.1695+7G>A
|
|
|
NM_000254.3(MTR):c.1695+7G>T
|
rs183273480
|
|
NM_000254.3(MTR):c.1696-14A>G
|
|
|
NM_000254.3(MTR):c.1696-18T>C
|
rs2103252601
|
|
NM_000254.3(MTR):c.1696-19A>G
|
|
|
NM_000254.3(MTR):c.1696-4C>T
|
|
|
NM_000254.3(MTR):c.1696-5G>A
|
|
|
NM_000254.3(MTR):c.1696-5G>T
|
|
|
NM_000254.3(MTR):c.1696-6T>C
|
|
|
NM_000254.3(MTR):c.1701A>G (p.Thr567=)
|
|
|
NM_000254.3(MTR):c.1707T>A (p.Pro569=)
|
|
|
NM_000254.3(MTR):c.1714A>C (p.Arg572=)
|
|
|
NM_000254.3(MTR):c.1737C>T (p.Asn579=)
|
|
|
NM_000254.3(MTR):c.174T>C (p.Asp58=)
|
rs2103013970
|
|
NM_000254.3(MTR):c.1755A>T (p.Arg585=)
|
|
|
NM_000254.3(MTR):c.1758A>G (p.Gly586=)
|
|
|
NM_000254.3(MTR):c.177T>C (p.His59=)
|
|
|
NM_000254.3(MTR):c.1803T>C (p.His601=)
|
|
|
NM_000254.3(MTR):c.1812+10A>G
|
|
|
NM_000254.3(MTR):c.1812+12G>T
|
|
|
NM_000254.3(MTR):c.1812+15C>T
|
|
|
NM_000254.3(MTR):c.1812+16T>A
|
|
|
NM_000254.3(MTR):c.1812+17C>T
|
|
|
NM_000254.3(MTR):c.1813-11A>G
|
rs1289723374
|
|
NM_000254.3(MTR):c.1830G>T (p.Gly610=)
|
|
|
NM_000254.3(MTR):c.186G>A (p.Pro62=)
|
|
|
NM_000254.3(MTR):c.1878A>G (p.Glu626=)
|
|
|
NM_000254.3(MTR):c.18A>G (p.Gln6=)
|
|
|
NM_000254.3(MTR):c.1929T>G (p.Thr643=)
|
|
|
NM_000254.3(MTR):c.192A>G (p.Lys64=)
|
|
|
NM_000254.3(MTR):c.1953+11A>C
|
|
|
NM_000254.3(MTR):c.1953+12A>G
|
|
|
NM_000254.3(MTR):c.1953+13G>A
|
|
|
NM_000254.3(MTR):c.1953+15G>T
|
|
|
NM_000254.3(MTR):c.1953+18C>T
|
|
|
NM_000254.3(MTR):c.1953+19T>A
|
|
|
NM_000254.3(MTR):c.1953+20A>G
|
|
|
NM_000254.3(MTR):c.1953+9A>C
|
|
|
NM_000254.3(MTR):c.1954-11T>A
|
|
|
NM_000254.3(MTR):c.1954-12A>C
|
rs192346180
|
|
NM_000254.3(MTR):c.1954-19G>C
|
rs2103290480
|
|
NM_000254.3(MTR):c.1954-4T>C
|
|
|
NM_000254.3(MTR):c.1956T>C (p.Thr652=)
|
|
|
NM_000254.3(MTR):c.1965A>C (p.Thr655=)
|
|
|
NM_000254.3(MTR):c.2013C>A (p.Val671=)
|
|
|
NM_000254.3(MTR):c.2022C>T (p.Arg674=)
|
rs2103291244
|
|
NM_000254.3(MTR):c.2025T>C (p.Leu675=)
|
|
|
NM_000254.3(MTR):c.2037T>C (p.Leu679=)
|
|
|
NM_000254.3(MTR):c.2043+15C>T
|
|
|
NM_000254.3(MTR):c.2043+8A>G
|
|
|
NM_000254.3(MTR):c.2043+9C>T
|
rs2103291466
|
|
NM_000254.3(MTR):c.2044-11_2044-9del
|
rs542174711
|
|
NM_000254.3(MTR):c.2044-11dup
|
|
|
NM_000254.3(MTR):c.2044-12T>C
|
|
|
NM_000254.3(MTR):c.2044-17T>C
|
|
|
NM_000254.3(MTR):c.2044-19T>C
|
|
|
NM_000254.3(MTR):c.2044-20T>C
|
|
|
NM_000254.3(MTR):c.2044-4T>C
|
|
|
NM_000254.3(MTR):c.2044-7T>G
|
|
|
NM_000254.3(MTR):c.2044-8T>C
|
rs1664517879
|
|
NM_000254.3(MTR):c.2067G>A (p.Glu689=)
|
|
|
NM_000254.3(MTR):c.2076G>A (p.Glu692=)
|
|
|
NM_000254.3(MTR):c.2106C>T (p.Pro702=)
|
|
|
NM_000254.3(MTR):c.2109A>C (p.Arg703=)
|
|
|
NM_000254.3(MTR):c.2118T>C (p.Asn706=)
|
rs1664526437
|
|
NM_000254.3(MTR):c.2133C>T (p.Pro711=)
|
|
|
NM_000254.3(MTR):c.213T>C (p.Ser71=)
|
|
|
NM_000254.3(MTR):c.2163T>C (p.Asp721=)
|
|
|
NM_000254.3(MTR):c.2190A>G (p.Leu730=)
|
|
|
NM_000254.3(MTR):c.2193T>C (p.Pro731=)
|
|
|
NM_000254.3(MTR):c.2196+12A>C
|
rs1664530187
|
|
NM_000254.3(MTR):c.2196+13T>C
|
|
|
NM_000254.3(MTR):c.2196+15G>A
|
|
|
NM_000254.3(MTR):c.2196+17G>A
|
|
|
NM_000254.3(MTR):c.2196+17G>C
|
|
|
NM_000254.3(MTR):c.2196+19G>A
|
rs372533462
|
|
NM_000254.3(MTR):c.2197-18C>A
|
|
|
NM_000254.3(MTR):c.2197-18C>G
|
|
|
NM_000254.3(MTR):c.2197-5C>G
|
|
|
NM_000254.3(MTR):c.2197-6T>C
|
rs1328542941
|
|
NM_000254.3(MTR):c.2205G>A (p.Lys735=)
|
|
|
NM_000254.3(MTR):c.2211C>T (p.Ala737=)
|
|
|
NM_000254.3(MTR):c.2241T>A (p.Leu747=)
|
|
|
NM_000254.3(MTR):c.2244C>A (p.Ile748=)
|
|
|
NM_000254.3(MTR):c.2247T>G (p.Pro749=)
|
|
|
NM_000254.3(MTR):c.225T>G (p.Pro75=)
|
|
|
NM_000254.3(MTR):c.2268A>G (p.Glu756=)
|
|
|
NM_000254.3(MTR):c.2274C>A (p.Thr758=)
|
|
|
NM_000254.3(MTR):c.2286C>T (p.Asn762=)
|
|
|
NM_000254.3(MTR):c.2304+16C>A
|
|
|
NM_000254.3(MTR):c.2304+16C>T
|
|
|
NM_000254.3(MTR):c.2305-11T>C
|
|
|
NM_000254.3(MTR):c.2305-11T>G
|
|
|
NM_000254.3(MTR):c.2305-14G>T
|
|
|
NM_000254.3(MTR):c.2305-4C>T
|
|
|
NM_000254.3(MTR):c.2305-5T>C
|
|
|
NM_000254.3(MTR):c.2305-9C>T
|
|
|
NM_000254.3(MTR):c.2325C>A (p.Ile775=)
|
|
|
NM_000254.3(MTR):c.2325C>T (p.Ile775=)
|
|
|
NM_000254.3(MTR):c.2346C>T (p.Gly782=)
|
rs777213189
|
|
NM_000254.3(MTR):c.2355C>T (p.His785=)
|
|
|
NM_000254.3(MTR):c.237C>T (p.Tyr79=)
|
|
|
NM_000254.3(MTR):c.2385C>A (p.Val795=)
|
|
|
NM_000254.3(MTR):c.2403C>T (p.Phe801=)
|
|
|
NM_000254.3(MTR):c.2405+18del
|
|
|
NM_000254.3(MTR):c.2405+20C>G
|
|
|
NM_000254.3(MTR):c.2405+20C>T
|
|
|
NM_000254.3(MTR):c.2405+8A>G
|
rs886046221
|
|
NM_000254.3(MTR):c.2406-10T>C
|
|
|
NM_000254.3(MTR):c.2406-18C>G
|
|
|
NM_000254.3(MTR):c.2406-18C>T
|
|
|
NM_000254.3(MTR):c.2406-8T>G
|
|
|
NM_000254.3(MTR):c.2406-9G>C
|
|
|
NM_000254.3(MTR):c.240A>G (p.Gln80=)
|
|
|
NM_000254.3(MTR):c.2424C>G (p.Val808=)
|
|
|
NM_000254.3(MTR):c.2463C>T (p.Asp821=)
|
|
|
NM_000254.3(MTR):c.2473+17C>T
|
|
|
NM_000254.3(MTR):c.2473+20T>A
|
|
|
NM_000254.3(MTR):c.2473+9C>A
|
|
|
NM_000254.3(MTR):c.2474-10A>T
|
|
|
NM_000254.3(MTR):c.2474-15A>T
|
|
|
NM_000254.3(MTR):c.2474-17_2474-16inv
|
|
|
NM_000254.3(MTR):c.2474-18T>C
|
rs10925256
|
|
NM_000254.3(MTR):c.2474-18_2474-17insTA
|
|
|
NM_000254.3(MTR):c.2474-19_2474-17del
|
|
|
NM_000254.3(MTR):c.2474-19_2474-18insAA
|
|
|
NM_000254.3(MTR):c.2474-19_2474-18inv
|
|
|
NM_000254.3(MTR):c.2474-20_2474-19insA
|
rs1665333724
|
|
NM_000254.3(MTR):c.2474-9A>C
|
|
|
NM_000254.3(MTR):c.2487G>C (p.Leu829=)
|
|
|
NM_000254.3(MTR):c.249+11C>T
|
|
|
NM_000254.3(MTR):c.249+15G>T
|
|
|
NM_000254.3(MTR):c.249+16del
|
|
|
NM_000254.3(MTR):c.249+19C>G
|
|
|
NM_000254.3(MTR):c.249+20C>G
|
|
|
NM_000254.3(MTR):c.2490A>G (p.Ser830=)
|
|
|
NM_000254.3(MTR):c.2493A>G (p.Gly831=)
|
|
|
NM_000254.3(MTR):c.250-10C>G
|
|
|
NM_000254.3(MTR):c.250-12C>G
|
|
|
NM_000254.3(MTR):c.250-15A>C
|
|
|
NM_000254.3(MTR):c.250-4dup
|
|
|
NM_000254.3(MTR):c.2508C>G (p.Ser836=)
|
|
|
NM_000254.3(MTR):c.2514T>C (p.Asp838=)
|
|
|
NM_000254.3(MTR):c.2517A>G (p.Glu839=)
|
|
|
NM_000254.3(MTR):c.2523T>A (p.Ile841=)
|
|
|
NM_000254.3(MTR):c.2532C>T (p.Ala844=)
|
|
|
NM_000254.3(MTR):c.2535G>A (p.Lys845=)
|
|
|
NM_000254.3(MTR):c.2553T>G (p.Ala851=)
|
|
|
NM_000254.3(MTR):c.255C>T (p.Tyr85=)
|
|
|
NM_000254.3(MTR):c.2562T>C (p.Ile854=)
|
|
|
NM_000254.3(MTR):c.2565A>G (p.Pro855=)
|
|
|
NM_000254.3(MTR):c.2569T>C (p.Leu857=)
|
|
|
NM_000254.3(MTR):c.2574T>C (p.Ile858=)
|
|
|
NM_000254.3(MTR):c.2594+10A>G
|
|
|
NM_000254.3(MTR):c.2594+11C>T
|
|
|
NM_000254.3(MTR):c.2594+18G>A
|
rs1558329619
|
|
NM_000254.3(MTR):c.2594+19C>G
|
|
|
NM_000254.3(MTR):c.2594+20_2594+28dup
|
|
|
NM_000254.3(MTR):c.2595-8C>G
|
|
|
NM_000254.3(MTR):c.2595-8C>T
|
|
|
NM_000254.3(MTR):c.2598C>T (p.Thr866=)
|
|
|
NM_000254.3(MTR):c.2601C>T (p.His867=)
|
|
|
NM_000254.3(MTR):c.2631T>C (p.Ser877=)
|
|
|
NM_000254.3(MTR):c.2637T>C (p.Pro879=)
|
|
|
NM_000254.3(MTR):c.2664G>A (p.Lys888=)
|
|
|
NM_000254.3(MTR):c.2676+11G>A
|
|
|
NM_000254.3(MTR):c.2676+14C>G
|
|
|
NM_000254.3(MTR):c.2676+17A>C
|
|
|
NM_000254.3(MTR):c.2676+17A>G
|
|
|
NM_000254.3(MTR):c.2676+19A>G
|
|
|
NM_000254.3(MTR):c.2676+8G>T
|
|
|
NM_000254.3(MTR):c.2677-10dup
|
|
|
NM_000254.3(MTR):c.2677-13C>T
|
|
|
NM_000254.3(MTR):c.2677-15A>G
|
|
|
NM_000254.3(MTR):c.2677-5T>G
|
|
|
NM_000254.3(MTR):c.2682C>T (p.Ser894=)
|
|
|
NM_000254.3(MTR):c.270A>G (p.Ala90=)
|
|
|
NM_000254.3(MTR):c.2727C>A (p.Ile909=)
|
|
|
NM_000254.3(MTR):c.2760T>C (p.His920=)
|
|
|
NM_000254.3(MTR):c.2775+17G>A
|
|
|
NM_000254.3(MTR):c.2775+19T>G
|
|
|
NM_000254.3(MTR):c.2775+7G>A
|
|
|
NM_000254.3(MTR):c.2776-11T>G
|
|
|
NM_000254.3(MTR):c.2784A>G (p.Arg928=)
|
|
|
NM_000254.3(MTR):c.2787C>T (p.Tyr929=)
|
|
|
NM_000254.3(MTR):c.2794T>C (p.Leu932=)
|
|
|
NM_000254.3(MTR):c.2802A>G (p.Gln934=)
|
rs963291512
|
|
NM_000254.3(MTR):c.2805C>T (p.Ala935=)
|
|
|
NM_000254.3(MTR):c.2829T>C (p.Asp943=)
|
|
|
NM_000254.3(MTR):c.2851+13A>G
|
|
|
NM_000254.3(MTR):c.2851+8T>G
|
|
|
NM_000254.3(MTR):c.2852-11C>G
|
|
|
NM_000254.3(MTR):c.2852-13T>C
|
|
|
NM_000254.3(MTR):c.2852-15A>T
|
|
|
NM_000254.3(MTR):c.2852-17A>G
|
|
|
NM_000254.3(MTR):c.2852-18C>T
|
|
|
NM_000254.3(MTR):c.2852-4G>T
|
|
|
NM_000254.3(MTR):c.2852-7C>T
|
rs1233643439
|
|
NM_000254.3(MTR):c.2856G>A (p.Lys952=)
|
|
|
NM_000254.3(MTR):c.2862G>A (p.Thr954=)
|
|
|
NM_000254.3(MTR):c.2868T>C (p.Ile956=)
|
|
|
NM_000254.3(MTR):c.2874C>A (p.Thr958=)
|
|
|
NM_000254.3(MTR):c.2874C>T (p.Thr958=)
|
|
|
NM_000254.3(MTR):c.2892T>C (p.Tyr964=)
|
|
|
NM_000254.3(MTR):c.2898G>A (p.Leu966=)
|
|
|
NM_000254.3(MTR):c.2913C>T (p.Asp971=)
|
|
|
NM_000254.3(MTR):c.2919T>A (p.Ile973=)
|
|
|
NM_000254.3(MTR):c.2919T>C (p.Ile973=)
|
|
|
NM_000254.3(MTR):c.294T>C (p.Phe98=)
|
|
|
NM_000254.3(MTR):c.2967G>A (p.Pro989=)
|
|
|
NM_000254.3(MTR):c.2967G>T (p.Pro989=)
|
|
|
NM_000254.3(MTR):c.2970T>C (p.Asn990=)
|
|
|
NM_000254.3(MTR):c.2976C>T (p.Gly992=)
|
|
|
NM_000254.3(MTR):c.3007+15T>G
|
|
|
NM_000254.3(MTR):c.3007+20C>T
|
|
|
NM_000254.3(MTR):c.3007+7G>A
|
|
|
NM_000254.3(MTR):c.3008-13G>T
|
|
|
NM_000254.3(MTR):c.3008-15C>A
|
|
|
NM_000254.3(MTR):c.3008-19_3008-14del
|
|
|
NM_000254.3(MTR):c.3008-5A>G
|
|
|
NM_000254.3(MTR):c.3033T>C (p.Asp1011=)
|
|
|
NM_000254.3(MTR):c.3045T>C (p.Asn1015=)
|
|
|
NM_000254.3(MTR):c.3057A>G (p.Thr1019=)
|
rs1394740700
|
|
NM_000254.3(MTR):c.3093G>C (p.Val1031=)
|
|
|
NM_000254.3(MTR):c.3093G>T (p.Val1031=)
|
|
|
NM_000254.3(MTR):c.30A>G (p.Gln10=)
|
|
|
NM_000254.3(MTR):c.3114G>A (p.Gln1038=)
|
|
|
NM_000254.3(MTR):c.3132T>C (p.Ile1044=)
|
|
|
NM_000254.3(MTR):c.3168A>G (p.Ala1056=)
|
|
|
NM_000254.3(MTR):c.3174C>T (p.Pro1058=)
|
|
|
NM_000254.3(MTR):c.3180C>T (p.Ala1060=)
|
|
|
NM_000254.3(MTR):c.3192G>A (p.Gly1064=)
|
|
|
NM_000254.3(MTR):c.3198G>A (p.Arg1066=)
|
|
|
NM_000254.3(MTR):c.3204+11T>C
|
|
|
NM_000254.3(MTR):c.3204+14A>G
|
|
|
NM_000254.3(MTR):c.3204+20A>G
|
|
|
NM_000254.3(MTR):c.3205-12C>T
|
|
|
NM_000254.3(MTR):c.3205-13C>T
|
|
|
NM_000254.3(MTR):c.3205-15C>T
|
|
|
NM_000254.3(MTR):c.3205-16A>G
|
|
|
NM_000254.3(MTR):c.3205-18A>G
|
|
|
NM_000254.3(MTR):c.3205-7T>C
|
|
|
NM_000254.3(MTR):c.3205-8G>C
|
|
|
NM_000254.3(MTR):c.3205-9G>T
|
|
|
NM_000254.3(MTR):c.3213G>A (p.Lys1071=)
|
|
|
NM_000254.3(MTR):c.3225C>T (p.Ser1075=)
|
|
|
NM_000254.3(MTR):c.3228G>A (p.Thr1076=)
|
|
|
NM_000254.3(MTR):c.3234A>G (p.Pro1078=)
|
|
|
NM_000254.3(MTR):c.3243C>T (p.Cys1081=)
|
|
|
NM_000254.3(MTR):c.3258C>T (p.Ile1086=)
|
|
|
NM_000254.3(MTR):c.3273T>G (p.Ser1091=)
|
|
|
NM_000254.3(MTR):c.3276C>T (p.Gly1092=)
|
|
|
NM_000254.3(MTR):c.327C>T (p.Gly109=)
|
|
|
NM_000254.3(MTR):c.3295C>T (p.Leu1099=)
|
|
|
NM_000254.3(MTR):c.3303C>T (p.Ala1101=)
|
|
|
NM_000254.3(MTR):c.3306T>A (p.Val1102=)
|
|
|
NM_000254.3(MTR):c.3318G>A (p.Gly1106=)
|
|
|
NM_000254.3(MTR):c.3321A>C (p.Val1107=)
|
|
|
NM_000254.3(MTR):c.3321A>G (p.Val1107=)
|
|
|
NM_000254.3(MTR):c.3327G>A (p.Glu1109=)
|
|
|
NM_000254.3(MTR):c.3345G>A (p.Glu1115=)
|
|
|
NM_000254.3(MTR):c.3357C>T (p.Asp1119=)
|
|
|
NM_000254.3(MTR):c.3384G>T (p.Ala1128=)
|
|
|
NM_000254.3(MTR):c.3394C>A (p.Arg1132=)
|
|
|
NM_000254.3(MTR):c.34+11G>C
|
|
|
NM_000254.3(MTR):c.34+13C>T
|
|
|
NM_000254.3(MTR):c.34+14C>T
|
|
|
NM_000254.3(MTR):c.34+15C>T
|
|
|
NM_000254.3(MTR):c.34+16C>A
|
|
|
NM_000254.3(MTR):c.34+19C>T
|
|
|
NM_000254.3(MTR):c.34+9G>A
|
|
|
NM_000254.3(MTR):c.340-166A>C
|
|
|
NM_000254.3(MTR):c.340-20G>A
|
|
|
NM_000254.3(MTR):c.3405+17G>A
|
|
|
NM_000254.3(MTR):c.3405+19G>A
|
|
|
NM_000254.3(MTR):c.3405+21del
|
|
|
NM_000254.3(MTR):c.3405+6_3405+33dup
|
|
|
NM_000254.3(MTR):c.3406-12T>C
|
|
|
NM_000254.3(MTR):c.3406-4C>T
|
|
|
NM_000254.3(MTR):c.3414A>G (p.Ala1138=)
|
|
|
NM_000254.3(MTR):c.3444A>G (p.Glu1148=)
|
|
|
NM_000254.3(MTR):c.3453C>G (p.Ala1151=)
|
|
|
NM_000254.3(MTR):c.3465T>C (p.Ser1155=)
|
|
|
NM_000254.3(MTR):c.3480C>T (p.Val1160=)
|
|
|
NM_000254.3(MTR):c.35-12C>T
|
|
|
NM_000254.3(MTR):c.35-14del
|
|
|
NM_000254.3(MTR):c.3519G>A (p.Pro1173=)
|
|
|
NM_000254.3(MTR):c.3543C>T (p.Pro1181=)
|
|
|
NM_000254.3(MTR):c.3552C>G (p.Thr1184=)
|
rs760793648
|
|
NM_000254.3(MTR):c.3564C>T (p.Thr1188=)
|
|
|
NM_000254.3(MTR):c.3576C>G (p.Leu1192=)
|
|
|
NM_000254.3(MTR):c.3585C>T (p.Ile1195=)
|
|
|
NM_000254.3(MTR):c.3588G>A (p.Glu1196=)
|
|
|
NM_000254.3(MTR):c.3598+13A>C
|
|
|
NM_000254.3(MTR):c.3598+18G>A
|
|
|
NM_000254.3(MTR):c.3598+19C>T
|
|
|
NM_000254.3(MTR):c.3598+20G>A
|
|
|
NM_000254.3(MTR):c.3599-14G>A
|
|
|
NM_000254.3(MTR):c.3599-14G>C
|
|
|
NM_000254.3(MTR):c.3599-17T>C
|
|
|
NM_000254.3(MTR):c.3599-4C>T
|
|
|
NM_000254.3(MTR):c.3599-5T>C
|
|
|
NM_000254.3(MTR):c.3599-6C>G
|
rs2147960863
|
|
NM_000254.3(MTR):c.3599-8C>T
|
|
|
NM_000254.3(MTR):c.3600C>A (p.Gly1200=)
|
|
|
NM_000254.3(MTR):c.3624A>G (p.Ala1208=)
|
|
|
NM_000254.3(MTR):c.3630A>T (p.Ala1210=)
|
|
|
NM_000254.3(MTR):c.3693G>A (p.Gly1231=)
|
|
|
NM_000254.3(MTR):c.3699T>A (p.Ile1233=)
|
|
|
NM_000254.3(MTR):c.3711+10C>A
|
|
|
NM_000254.3(MTR):c.3711+10C>T
|
|
|
NM_000254.3(MTR):c.3711+15del
|
|
|
NM_000254.3(MTR):c.3711+20A>G
|
|
|
NM_000254.3(MTR):c.3711+22_3711+23del
|
|
|
NM_000254.3(MTR):c.3712-4G>A
|
|
|
NM_000254.3(MTR):c.3712-9C>A
|
|
|
NM_000254.3(MTR):c.3727T>C (p.Leu1243=)
|
|
|
NM_000254.3(MTR):c.3744T>G (p.Ser1248=)
|
|
|
NM_000254.3(MTR):c.3750T>C (p.Ala1250=)
|
|
|
NM_000254.3(MTR):c.375C>T (p.Ala125=)
|
|
|
NM_000254.3(MTR):c.3762A>G (p.Lys1254=)
|
|
|
NM_000254.3(MTR):c.387C>A (p.Ala129=)
|
|
|
NM_000254.3(MTR):c.387C>T (p.Ala129=)
|
rs575706892
|
|
NM_000254.3(MTR):c.399T>C (p.Thr133=)
|
|
|
NM_000254.3(MTR):c.402C>T (p.Leu134=)
|
|
|
NM_000254.3(MTR):c.409+14T>G
|
|
|
NM_000254.3(MTR):c.409+15_409+17del
|
rs750828089
|
|
NM_000254.3(MTR):c.409+17T>C
|
|
|
NM_000254.3(MTR):c.426G>C (p.Val142=)
|
|
|
NM_000254.3(MTR):c.447T>A (p.Thr149=)
|
|
|
NM_000254.3(MTR):c.468C>T (p.Ser156=)
|
|
|
NM_000254.3(MTR):c.471A>G (p.Pro157=)
|
rs931152176
|
|
NM_000254.3(MTR):c.471A>T (p.Pro157=)
|
|
|
NM_000254.3(MTR):c.502+14A>G
|
|
|
NM_000254.3(MTR):c.502+16A>C
|
|
|
NM_000254.3(MTR):c.502+21_502+24dup
|
|
|
NM_000254.3(MTR):c.503-14T>C
|
|
|
NM_000254.3(MTR):c.503-15A>T
|
|
|
NM_000254.3(MTR):c.504A>C (p.Thr168=)
|
|
|
NM_000254.3(MTR):c.504A>G (p.Thr168=)
|
|
|
NM_000254.3(MTR):c.507T>C (p.Phe169=)
|
|
|
NM_000254.3(MTR):c.510T>C (p.Asp170=)
|
|
|
NM_000254.3(MTR):c.546A>G (p.Gly182=)
|
|
|
NM_000254.3(MTR):c.606C>T (p.Ala202=)
|
|
|
NM_000254.3(MTR):c.609+14G>C
|
|
|
NM_000254.3(MTR):c.609+14G>T
|
|
|
NM_000254.3(MTR):c.609+16A>G
|
|
|
NM_000254.3(MTR):c.610-12T>C
|
|
|
NM_000254.3(MTR):c.610-6T>C
|
rs769743026
|
|
NM_000254.3(MTR):c.610-6T>G
|
|
|
NM_000254.3(MTR):c.627C>A (p.Leu209=)
|
|
|
NM_000254.3(MTR):c.630A>G (p.Gln210=)
|
|
|
NM_000254.3(MTR):c.651T>C (p.Tyr217=)
|
|
|
NM_000254.3(MTR):c.660G>A (p.Arg220=)
|
|
|
NM_000254.3(MTR):c.669+12dup
|
|
|
NM_000254.3(MTR):c.670-11T>C
|
|
|
NM_000254.3(MTR):c.670-20T>C
|
|
|
NM_000254.3(MTR):c.670-20T>G
|
|
|
NM_000254.3(MTR):c.681G>A (p.Thr227=)
|
|
|
NM_000254.3(MTR):c.684C>A (p.Ile228=)
|
|
|
NM_000254.3(MTR):c.699G>A (p.Gly233=)
|
|
|
NM_000254.3(MTR):c.6A>G (p.Ser2=)
|
|
|
NM_000254.3(MTR):c.702G>A (p.Arg234=)
|
|
|
NM_000254.3(MTR):c.726G>A (p.Glu242=)
|
|
|
NM_000254.3(MTR):c.741C>T (p.Ser247=)
|
|
|
NM_000254.3(MTR):c.750T>C (p.His250=)
|
|
|
NM_000254.3(MTR):c.764+7G>A
|
|
|
NM_000254.3(MTR):c.765-12C>G
|
|
|
NM_000254.3(MTR):c.765-4C>T
|
|
|
NM_000254.3(MTR):c.765-5T>C
|
|
|
NM_000254.3(MTR):c.786G>A (p.Leu262=)
|
|
|
NM_000254.3(MTR):c.792A>G (p.Ala264=)
|
|
|
NM_000254.3(MTR):c.834A>G (p.Thr278=)
|
|
|
NM_000254.3(MTR):c.865+10T>C
|
|
|
NM_000254.3(MTR):c.865+12A>G
|
rs2103095649
|
|
NM_000254.3(MTR):c.865+18G>T
|
|
|
NM_000254.3(MTR):c.865+1GT[3]
|
rs2103095576
|
|
NM_000254.3(MTR):c.865+7G>T
|
|
|
NM_000254.3(MTR):c.866-13T>G
|
|
|
NM_000254.3(MTR):c.866-16A>C
|
|
|
NM_000254.3(MTR):c.866-6T>C
|
|
|
NM_000254.3(MTR):c.866-8T>C
|
|
|
NM_000254.3(MTR):c.873C>G (p.Pro291=)
|
|
|
NM_000254.3(MTR):c.879C>T (p.Thr293=)
|
|
|
NM_000254.3(MTR):c.888C>T (p.Asp296=)
|
|
|
NM_000254.3(MTR):c.894T>C (p.Asp298=)
|
|
|
NM_000254.3(MTR):c.900G>A (p.Thr300=)
|
|
|
NM_000254.3(MTR):c.906T>C (p.Ser302=)
|
|
|
NM_000254.3(MTR):c.915C>T (p.Ala305=)
|
|
|
NM_000254.3(MTR):c.924A>G (p.Leu308=)
|
|
|
NM_000254.3(MTR):c.927+10C>A
|
|
|
NM_000254.3(MTR):c.927+11C>A
|
|
|
NM_000254.3(MTR):c.927+18C>G
|
|
|
NM_000254.3(MTR):c.927+20C>T
|
|
|
NM_000254.3(MTR):c.927+20del
|
|
|
NM_000254.3(MTR):c.927+7G>A
|
|
|
NM_000254.3(MTR):c.928-18G>A
|
|
|
NM_000254.3(MTR):c.928-19T>G
|
|
|
NM_000254.3(MTR):c.928-9T>A
|
|
|
NM_000254.3(MTR):c.963A>C (p.Gly321=)
|
|
|
NM_000254.3(MTR):c.975G>A (p.Gly325=)
|
|
|
NM_000254.3(MTR):c.981A>C (p.Thr327=)
|
|
|
NM_000254.3(MTR):c.984A>G (p.Pro328=)
|
|
|
NM_000254.3(MTR):c.987T>C (p.Asp329=)
|
|
|
NM_000254.3(MTR):c.995+14A>G
|
|
|
NM_000254.3(MTR):c.995+19C>T
|
|
|
NM_000254.3(MTR):c.996-12C>T
|
|
|
NM_000254.3(MTR):c.996-14C>T
|
|
|
NM_000254.3(MTR):c.99G>A (p.Leu33=)
|
|
|
NM_000254.3(MTR):c.9C>T (p.Pro3=)
|
rs201975748
|
|
NM_000289.6(PFKM):c.1002T>C (p.Cys334=)
|
|
|
NM_000289.6(PFKM):c.1017T>C (p.Ser339=)
|
rs2135957213
|
|
NM_000289.6(PFKM):c.1020T>C (p.Gly340=)
|
rs2135957243
|
|
NM_000289.6(PFKM):c.1023C>T (p.Asn341=)
|
rs2135957291
|
|
NM_000289.6(PFKM):c.1029T>A (p.Ala343=)
|
rs2135957401
|
|
NM_000289.6(PFKM):c.1029T>C (p.Ala343=)
|
|
|
NM_000289.6(PFKM):c.1032G>A (p.Val344=)
|
rs1329869497
|
|
NM_000289.6(PFKM):c.1035C>T (p.Arg345=)
|
|
|
NM_000289.6(PFKM):c.1036C>T (p.Leu346=)
|
|
|
NM_000289.6(PFKM):c.1062+14C>T
|
|
|
NM_000289.6(PFKM):c.1062+20C>T
|
|
|
NM_000289.6(PFKM):c.1062+8C>T
|
|
|
NM_000289.6(PFKM):c.1062+9T>C
|
|
|
NM_000289.6(PFKM):c.1062G>T (p.Val354=)
|
|
|
NM_000289.6(PFKM):c.1063-10C>A
|
|
|
NM_000289.6(PFKM):c.1063-10C>T
|
|
|
NM_000289.6(PFKM):c.1063-18G>C
|
|
|
NM_000289.6(PFKM):c.1063-20T>A
|
|
|
NM_000289.6(PFKM):c.1063-6C>A
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-6C>G
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-6C>T
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-7C>A
|
|
|
NM_000289.6(PFKM):c.1063-7C>T
|
rs776228408
|
|
NM_000289.6(PFKM):c.1063-8C>T
|
|
|
NM_000289.6(PFKM):c.1077C>G (p.Thr359=)
|
rs2135975682
|
|
NM_000289.6(PFKM):c.1077C>T (p.Thr359=)
|
|
|
NM_000289.6(PFKM):c.1080G>A (p.Lys360=)
|
|
|
NM_000289.6(PFKM):c.108T>C (p.Ala36=)
|
rs1949346132
|
|
NM_000289.6(PFKM):c.1113G>A (p.Leu371=)
|
rs2135976209
|
|
NM_000289.6(PFKM):c.1122A>G (p.Arg374=)
|
|
|
NM_000289.6(PFKM):c.1127+10T>A
|
|
|
NM_000289.6(PFKM):c.1127+14G>A
|
|
|
NM_000289.6(PFKM):c.1127+19G>A
|
|
|
NM_000289.6(PFKM):c.1127+19G>T
|
|
|
NM_000289.6(PFKM):c.1127+7A>G
|
rs2135976553
|
|
NM_000289.6(PFKM):c.1127+8G>A
|
rs2135976581
|
|
NM_000289.6(PFKM):c.1127+9A>C
|
rs2135976634
|
|
NM_000289.6(PFKM):c.1128-10C>A
|
rs2135982206
|
|
NM_000289.6(PFKM):c.1128-10C>T
|
rs2135982206
|
|
NM_000289.6(PFKM):c.1128-15T>C
|
|
|
NM_000289.6(PFKM):c.1128-16T>A
|
|
|
NM_000289.6(PFKM):c.1128-17A>G
|
|
|
NM_000289.6(PFKM):c.1128-18T>C
|
|
|
NM_000289.6(PFKM):c.1128-19_1128-16del
|
|
|
NM_000289.6(PFKM):c.114T>C (p.Val38=)
|
|
|
NM_000289.6(PFKM):c.1152G>A (p.Val384=)
|
|
|
NM_000289.6(PFKM):c.1161T>C (p.Leu387=)
|
rs1950427025
|
|
NM_000289.6(PFKM):c.1164A>G (p.Leu388=)
|
rs2135982704
|
|
NM_000289.6(PFKM):c.1182G>A (p.Pro394=)
|
rs372189049
|
|
NM_000289.6(PFKM):c.1191+11G>T
|
|
|
NM_000289.6(PFKM):c.1191+13T>G
|
|
|
NM_000289.6(PFKM):c.1192-10T>C
|
|
|
NM_000289.6(PFKM):c.1192-11C>T
|
|
|
NM_000289.6(PFKM):c.1192-12C>G
|
|
|
NM_000289.6(PFKM):c.1192-19C>T
|
|
|
NM_000289.6(PFKM):c.1192-3_1192-2del
|
rs780969059
|
|
NM_000289.6(PFKM):c.1192-5T>C
|
rs778432092
|
|
NM_000289.6(PFKM):c.1192-6G>C
|
|
|
NM_000289.6(PFKM):c.1192-9C>T
|
|
|
NM_000289.6(PFKM):c.1209G>A (p.Val403=)
|
|
|
NM_000289.6(PFKM):c.1221C>T (p.Asn407=)
|
rs764231757
|
|
NM_000289.6(PFKM):c.1224G>C (p.Val408=)
|
rs762040245
|
|
NM_000289.6(PFKM):c.1224G>T (p.Val408=)
|
|
|
NM_000289.6(PFKM):c.1248T>C (p.Asn416=)
|
|
|
NM_000289.6(PFKM):c.1254T>G (p.Ala418=)
|
rs1592789513
|
|
NM_000289.6(PFKM):c.1266T>C (p.Thr422=)
|
|
|
NM_000289.6(PFKM):c.1281T>C (p.Leu427=)
|
|
|
NM_000289.6(PFKM):c.1293C>T (p.Asn431=)
|
rs1325830143
|
|
NM_000289.6(PFKM):c.1302C>G (p.Leu434=)
|
|
|
NM_000289.6(PFKM):c.1302C>T (p.Leu434=)
|
rs1217619963
|
|
NM_000289.6(PFKM):c.1314T>C (p.Asp438=)
|
|
|
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)
|
rs1555206566
|
|
NM_000289.6(PFKM):c.1342-13C>T
|
|
|
NM_000289.6(PFKM):c.1342-7C>T
|
rs1592793920
|
|
NM_000289.6(PFKM):c.1342-8C>T
|
|
|
NM_000289.6(PFKM):c.1342-9del
|
rs2136000813
|
|
NM_000289.6(PFKM):c.1347G>A (p.Glu449=)
|
rs1383781379
|
|
NM_000289.6(PFKM):c.1383C>T (p.Gly461=)
|
|
|
NM_000289.6(PFKM):c.1392C>T (p.Gly464=)
|
|
|
NM_000289.6(PFKM):c.1407T>C (p.Thr469=)
|
|
|
NM_000289.6(PFKM):c.1412+11C>G
|
|
|
NM_000289.6(PFKM):c.1412+14C>T
|
|
|
NM_000289.6(PFKM):c.1412+16G>T
|
|
|
NM_000289.6(PFKM):c.1412+17A>C
|
|
|
NM_000289.6(PFKM):c.1412+19G>T
|
|
|
NM_000289.6(PFKM):c.1412+20C>T
|
|
|
NM_000289.6(PFKM):c.1412+9C>T
|
rs2136001614
|
|
NM_000289.6(PFKM):c.1413-16A>G
|
|
|
NM_000289.6(PFKM):c.1413-5A>T
|
rs2136006212
|
|
NM_000289.6(PFKM):c.1416T>C (p.Thr472=)
|
rs1950594557
|
|
NM_000289.6(PFKM):c.1417C>T (p.Leu473=)
|
rs1950594770
|
|
NM_000289.6(PFKM):c.1443C>T (p.Ile481=)
|
rs2136006513
|
|
NM_000289.6(PFKM):c.1452T>C (p.Asn484=)
|
|
|
NM_000289.6(PFKM):c.147C>T (p.Phe49=)
|
|
|
NM_000289.6(PFKM):c.1491G>C (p.Gly497=)
|
|
|
NM_000289.6(PFKM):c.1500+14A>G
|
|
|
NM_000289.6(PFKM):c.1500+15C>T
|
|
|
NM_000289.6(PFKM):c.1500+9C>T
|
rs1315594001
|
|
NM_000289.6(PFKM):c.1501-12TCT[2]
|
rs1230657170
|
|
NM_000289.6(PFKM):c.1501-5C>A
|
|
|
NM_000289.6(PFKM):c.1501-8C>T
|
|
|
NM_000289.6(PFKM):c.1503T>A (p.Ala501=)
|
rs1421392490
|
|
NM_000289.6(PFKM):c.1503T>G (p.Ala501=)
|
rs1421392490
|
|
NM_000289.6(PFKM):c.1506C>T (p.Tyr502=)
|
rs2136008624
|
|
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
|
|
|
NM_000289.6(PFKM):c.1521A>G (p.Glu507=)
|
rs1592800238
|
|
NM_000289.6(PFKM):c.1522C>T (p.Leu508=)
|
|
|
NM_000289.6(PFKM):c.1530G>A (p.Glu510=)
|
|
|
NM_000289.6(PFKM):c.1557C>T (p.Cys519=)
|
|
|
NM_000289.6(PFKM):c.1563A>G (p.Pro521=)
|
rs2136009337
|
|
NM_000289.6(PFKM):c.156T>C (p.His52=)
|
|
|
NM_000289.6(PFKM):c.1581T>C (p.Ala527=)
|
|
|
NM_000289.6(PFKM):c.1587C>T (p.Val529=)
|
rs1406744971
|
|
NM_000289.6(PFKM):c.159+11T>C
|
|
|
NM_000289.6(PFKM):c.159+14T>C
|
|
|
NM_000289.6(PFKM):c.159+16T>C
|
|
|
NM_000289.6(PFKM):c.1596T>C (p.Asn532=)
|
|
|
NM_000289.6(PFKM):c.1599C>A (p.Val533=)
|
rs1308260209
|
|
NM_000289.6(PFKM):c.15G>A (p.Glu5=)
|
|
|
NM_000289.6(PFKM):c.160-11G>A
|
|
|
NM_000289.6(PFKM):c.160-13A>C
|
|
|
NM_000289.6(PFKM):c.160-13A>T
|
|
|
NM_000289.6(PFKM):c.160-14A>G
|
|
|
NM_000289.6(PFKM):c.160-16A>G
|
|
|
NM_000289.6(PFKM):c.160-18G>A
|
|
|
NM_000289.6(PFKM):c.160-4A>G
|
|
|
NM_000289.6(PFKM):c.1626T>C (p.Ala542=)
|
rs2136010141
|
|
NM_000289.6(PFKM):c.1632A>G (p.Thr544=)
|
rs2136010299
|
|
NM_000289.6(PFKM):c.1644T>C (p.Thr548=)
|
|
|
NM_000289.6(PFKM):c.1647C>A (p.Ile549=)
|
rs780042405
|
|
NM_000289.6(PFKM):c.1653+12T>A
|
|
|
NM_000289.6(PFKM):c.1653+15C>T
|
|
|
NM_000289.6(PFKM):c.1653+19T>C
|
|
|
NM_000289.6(PFKM):c.1653+7G>A
|
|
|
NM_000289.6(PFKM):c.1653+8C>G
|
rs369425921
|
|
NM_000289.6(PFKM):c.1653+9C>A
|
rs1442520537
|
|
NM_000289.6(PFKM):c.1654-20A>G
|
|
|
NM_000289.6(PFKM):c.1654-5T>C
|
|
|
NM_000289.6(PFKM):c.1654-7C>T
|
|
|
NM_000289.6(PFKM):c.1659T>C (p.Cys553=)
|
rs2136019328
|
|
NM_000289.6(PFKM):c.1695T>C (p.Arg565=)
|
|
|
NM_000289.6(PFKM):c.1701G>A (p.Val567=)
|
rs2136019645
|
|
NM_000289.6(PFKM):c.1707C>A (p.Ile569=)
|
|
|
NM_000289.6(PFKM):c.1713G>A (p.Glu571=)
|
|
|
NM_000289.6(PFKM):c.171C>A (p.Gly57=)
|
rs1949456909
|
|
NM_000289.6(PFKM):c.171C>T (p.Gly57=)
|
|
|
NM_000289.6(PFKM):c.1725C>T (p.Gly575=)
|
|
|
NM_000289.6(PFKM):c.1728C>T (p.Tyr576=)
|
|
|
NM_000289.6(PFKM):c.1746C>T (p.Thr582=)
|
rs2136020208
|
|
NM_000289.6(PFKM):c.1761A>C (p.Ala587=)
|
|
|
NM_000289.6(PFKM):c.1767G>C (p.Gly589=)
|
|
|
NM_000289.6(PFKM):c.1779C>G (p.Ala593=)
|
rs1592808888
|
|
NM_000289.6(PFKM):c.1791G>A (p.Glu597=)
|
|
|
NM_000289.6(PFKM):c.1797C>T (p.Pro599=)
|
|
|
NM_000289.6(PFKM):c.1803C>T (p.Thr601=)
|
|
|
NM_000289.6(PFKM):c.1807C>A (p.Arg603=)
|
|
|
NM_000289.6(PFKM):c.1812C>T (p.Asp604=)
|
|
|
NM_000289.6(PFKM):c.1818+13C>A
|
|
|
NM_000289.6(PFKM):c.1818+15A>G
|
|
|
NM_000289.6(PFKM):c.1818+17del
|
|
|
NM_000289.6(PFKM):c.1818+19C>A
|
|
|
NM_000289.6(PFKM):c.1819-9C>A
|
rs755585302
|
|
NM_000289.6(PFKM):c.1819-9C>G
|
|
|
NM_000289.6(PFKM):c.1834C>T (p.Leu612=)
|
rs2136032182
|
|
NM_000289.6(PFKM):c.1842A>G (p.Gln614=)
|
|
|
NM_000289.6(PFKM):c.1866G>A (p.Arg622=)
|
|
|
NM_000289.6(PFKM):c.186A>C (p.Gly62=)
|
rs750471184
|
|
NM_000289.6(PFKM):c.1875G>A (p.Val625=)
|
rs1321101853
|
|
NM_000289.6(PFKM):c.1880+11C>G
|
|
|
NM_000289.6(PFKM):c.1880+12A>G
|
|
|
NM_000289.6(PFKM):c.1880+13T>C
|
|
|
NM_000289.6(PFKM):c.1880+19G>C
|
|
|
NM_000289.6(PFKM):c.1880+19G>T
|
|
|
NM_000289.6(PFKM):c.1881-8C>T
|
rs779486479
|
|
NM_000289.6(PFKM):c.1884T>C (p.Asn628=)
|
rs2136035977
|
|
NM_000289.6(PFKM):c.1896T>C (p.Asn632=)
|
|
|
NM_000289.6(PFKM):c.18C>T (p.His6=)
|
|
|
NM_000289.6(PFKM):c.1902C>T (p.Asn634=)
|
|
|
NM_000289.6(PFKM):c.1905T>C (p.Tyr635=)
|
|
|
NM_000289.6(PFKM):c.1908C>G (p.Thr636=)
|
|
|
NM_000289.6(PFKM):c.192C>T (p.His64=)
|
rs2135857209
|
|
NM_000289.6(PFKM):c.1932C>T (p.Tyr644=)
|
rs1950814614
|
|
NM_000289.6(PFKM):c.1938G>A (p.Glu646=)
|
|
|
NM_000289.6(PFKM):c.1941G>A (p.Glu647=)
|
rs2136036321
|
|
NM_000289.6(PFKM):c.1947G>A (p.Lys649=)
|
|
|
NM_000289.6(PFKM):c.1953C>A (p.Ile651=)
|
|
|
NM_000289.6(PFKM):c.1962C>T (p.Ser654=)
|
|
|
NM_000289.6(PFKM):c.1989G>A (p.Gln663=)
|
|
|
NM_000289.6(PFKM):c.1992+13C>G
|
|
|
NM_000289.6(PFKM):c.1992+13C>T
|
|
|
NM_000289.6(PFKM):c.1992+14C>T
|
|
|
NM_000289.6(PFKM):c.1992+15G>A
|
|
|
NM_000289.6(PFKM):c.1992+17A>G
|
|
|
NM_000289.6(PFKM):c.1992+20C>A
|
|
|
NM_000289.6(PFKM):c.1992+20C>T
|
|
|
NM_000289.6(PFKM):c.1993-16A>G
|
|
|
NM_000289.6(PFKM):c.1993-16_1993-15del
|
|
|
NM_000289.6(PFKM):c.1995T>C (p.Gly665=)
|
rs770758369
|
|
NM_000289.6(PFKM):c.2001C>T (p.Ser667=)
|
|
|
NM_000289.6(PFKM):c.2007C>A (p.Thr669=)
|
|
|
NM_000289.6(PFKM):c.2019G>A (p.Arg673=)
|
rs1950913988
|
|
NM_000289.6(PFKM):c.201A>G (p.Glu67=)
|
|
|
NM_000289.6(PFKM):c.2043C>A (p.Ala681=)
|
|
|
NM_000289.6(PFKM):c.2043C>T (p.Ala681=)
|
|
|
NM_000289.6(PFKM):c.2046G>A (p.Lys682=)
|
|
|
NM_000289.6(PFKM):c.204C>T (p.Ala68=)
|
rs2135857231
|
|
NM_000289.6(PFKM):c.2064T>G (p.Ser688=)
|
|
|
NM_000289.6(PFKM):c.2070A>G (p.Lys690=)
|
|
|
NM_000289.6(PFKM):c.2073C>A (p.Ile691=)
|
|
|
NM_000289.6(PFKM):c.2092+12G>A
|
|
|
NM_000289.6(PFKM):c.2092+18G>A
|
|
|
NM_000289.6(PFKM):c.2092+20G>A
|
|
|
NM_000289.6(PFKM):c.2092+7G>A
|
rs2136049384
|
|
NM_000289.6(PFKM):c.2092+8G>A
|
rs2136049447
|
|
NM_000289.6(PFKM):c.2092+9G>A
|
rs371778846
|
|
NM_000289.6(PFKM):c.2093-5T>C
|
rs2136050932
|
|
NM_000289.6(PFKM):c.2093-6T>C
|
|
|
NM_000289.6(PFKM):c.2093-7A>C
|
|
|
NM_000289.6(PFKM):c.2093-8C>T
|
|
|
NM_000289.6(PFKM):c.2106C>T (p.Ala702=)
|
|
|
NM_000289.6(PFKM):c.2124C>G (p.Gly708=)
|
|
|
NM_000289.6(PFKM):c.2127T>C (p.Cys709=)
|
rs2136051296
|
|
NM_000289.6(PFKM):c.2133G>A (p.Leu711=)
|
|
|
NM_000289.6(PFKM):c.2166A>G (p.Pro722=)
|
rs2136051603
|
|
NM_000289.6(PFKM):c.2169G>A (p.Val723=)
|
|
|
NM_000289.6(PFKM):c.2175G>A (p.Glu725=)
|
|
|
NM_000289.6(PFKM):c.2184C>T (p.Asp728=)
|
|
|
NM_000289.6(PFKM):c.2190A>G (p.Thr730=)
|
rs926218950
|
|
NM_000289.6(PFKM):c.2190A>T (p.Thr730=)
|
|
|
NM_000289.6(PFKM):c.2198+8C>T
|
|
|
NM_000289.6(PFKM):c.2198+9A>C
|
|
|
NM_000289.6(PFKM):c.2198+9A>G
|
|
|
NM_000289.6(PFKM):c.2199-15C>T
|
|
|
NM_000289.6(PFKM):c.2199-16C>T
|
|
|
NM_000289.6(PFKM):c.2199-5T>C
|
|
|
NM_000289.6(PFKM):c.2199-8C>T
|
|
|
NM_000289.6(PFKM):c.2199-9C>T
|
rs2136054913
|
|
NM_000289.6(PFKM):c.21T>C (p.His7=)
|
rs2137860144
|
|
NM_000289.6(PFKM):c.2211C>G (p.Pro737=)
|
rs1165739164
|
|
NM_000289.6(PFKM):c.2217A>G (p.Glu739=)
|
rs1950977568
|
|
NM_000289.6(PFKM):c.2220G>A (p.Gln740=)
|
|
|
NM_000289.6(PFKM):c.222G>T (p.Ser74=)
|
rs754074132
|
|
NM_000289.6(PFKM):c.2236A>C (p.Arg746=)
|
rs1592832534
|
|
NM_000289.6(PFKM):c.2241C>A (p.Pro747=)
|
|
|
NM_000289.6(PFKM):c.2241C>T (p.Pro747=)
|
rs1350195023
|
|
NM_000289.6(PFKM):c.2244C>A (p.Ile748=)
|
|
|
NM_000289.6(PFKM):c.2247C>T (p.Leu749=)
|
|
|
NM_000289.6(PFKM):c.2259C>T (p.Ala753=)
|
|
|
NM_000289.6(PFKM):c.2262G>A (p.Lys754=)
|
|
|
NM_000289.6(PFKM):c.2268G>A (p.Glu756=)
|
rs2136055950
|
|
NM_000289.6(PFKM):c.2271T>C (p.Ile757=)
|
|
|
NM_000289.6(PFKM):c.2277G>A (p.Leu759=)
|
rs1430120826
|
|
NM_000289.6(PFKM):c.2283T>C (p.Thr761=)
|
|
|
NM_000289.6(PFKM):c.2286A>G (p.Ser762=)
|
rs1592832978
|
|
NM_000289.6(PFKM):c.2298C>T (p.His766=)
|
|
|
NM_000289.6(PFKM):c.2307C>T (p.His769=)
|
|
|
NM_000289.6(PFKM):c.2313C>T (p.Thr771=)
|
|
|
NM_000289.6(PFKM):c.2322G>A (p.Arg774=)
|
rs2136056634
|
|
NM_000289.6(PFKM):c.2334T>A (p.Ala778=)
|
rs8716
|
|
NM_000289.6(PFKM):c.2337C>G (p.Ala779=)
|
rs748647298
|
|
NM_000289.6(PFKM):c.237+17T>C
|
|
|
NM_000289.6(PFKM):c.237+8C>T
|
|
|
NM_000289.6(PFKM):c.238-12C>T
|
|
|
NM_000289.6(PFKM):c.238-13A>G
|
|
|
NM_000289.6(PFKM):c.238-20G>A
|
|
|
NM_000289.6(PFKM):c.262C>A (p.Arg88=)
|
|
|
NM_000289.6(PFKM):c.264G>A (p.Arg88=)
|
|
|
NM_000289.6(PFKM):c.277C>A (p.Arg93=)
|
|
|
NM_000289.6(PFKM):c.291A>C (p.Gly97=)
|
rs2135884772
|
|
NM_000289.6(PFKM):c.297C>T (p.Leu99=)
|
rs1181881387
|
|
NM_000289.6(PFKM):c.309C>T (p.Tyr103=)
|
rs2135885049
|
|
NM_000289.6(PFKM):c.321G>A (p.Lys107=)
|
|
|
NM_000289.6(PFKM):c.34C>T (p.Leu12=)
|
|
|
NM_000289.6(PFKM):c.354T>A (p.Gly118=)
|
|
|
NM_000289.6(PFKM):c.354T>C (p.Gly118=)
|
rs1187514309
|
|
NM_000289.6(PFKM):c.363C>T (p.Ser121=)
|
|
|
NM_000289.6(PFKM):c.366C>T (p.Leu122=)
|
rs2135886000
|
|
NM_000289.6(PFKM):c.369T>G (p.Thr123=)
|
rs1592727757
|
|
NM_000289.6(PFKM):c.372G>A (p.Gly124=)
|
|
|
NM_000289.6(PFKM):c.417C>A (p.Leu139=)
|
|
|
NM_000289.6(PFKM):c.427+17A>T
|
|
|
NM_000289.6(PFKM):c.427+20A>G
|
|
|
NM_000289.6(PFKM):c.427+9G>A
|
|
|
NM_000289.6(PFKM):c.428-10T>C
|
rs2135891586
|
|
NM_000289.6(PFKM):c.428-20G>C
|
|
|
NM_000289.6(PFKM):c.428-5G>T
|
|
|
NM_000289.6(PFKM):c.428-6T>C
|
rs2135891715
|
|
NM_000289.6(PFKM):c.428-7T>C
|
|
|
NM_000289.6(PFKM):c.428-9C>T
|
|
|
NM_000289.6(PFKM):c.438A>G (p.Thr146=)
|
|
|
NM_000289.6(PFKM):c.438A>T (p.Thr146=)
|
rs2135892064
|
|
NM_000289.6(PFKM):c.453G>C (p.Thr151=)
|
rs144370737
|
|
NM_000289.6(PFKM):c.489G>T (p.Gly163=)
|
|
|
NM_000289.6(PFKM):c.492A>C (p.Ser164=)
|
|
|
NM_000289.6(PFKM):c.507C>T (p.Phe169=)
|
rs777395109
|
|
NM_000289.6(PFKM):c.531C>A (p.Gly177=)
|
|
|
NM_000289.6(PFKM):c.534T>C (p.Thr178=)
|
rs146157053
|
|
NM_000289.6(PFKM):c.543C>T (p.Ala181=)
|
rs1370905542
|
|
NM_000289.6(PFKM):c.549T>C (p.His183=)
|
|
|
NM_000289.6(PFKM):c.552G>T (p.Arg184=)
|
rs976955357
|
|
NM_000289.6(PFKM):c.564T>C (p.Ile188=)
|
rs1949732821
|
|
NM_000289.6(PFKM):c.573C>T (p.Ala191=)
|
rs2135894032
|
|
NM_000289.6(PFKM):c.582C>T (p.Thr194=)
|
|
|
NM_000289.6(PFKM):c.593+10C>G
|
rs1949737425
|
|
NM_000289.6(PFKM):c.593+12T>A
|
|
|
NM_000289.6(PFKM):c.593+15G>A
|
|
|
NM_000289.6(PFKM):c.593+18G>A
|
|
|
NM_000289.6(PFKM):c.593+18G>C
|
|
|
NM_000289.6(PFKM):c.593+8G>A
|
rs2135894357
|
|
NM_000289.6(PFKM):c.594-11A>G
|
|
|
NM_000289.6(PFKM):c.594-12T>C
|
|
|
NM_000289.6(PFKM):c.594-12dup
|
|
|
NM_000289.6(PFKM):c.594-13C>T
|
|
|
NM_000289.6(PFKM):c.594-14T>A
|
|
|
NM_000289.6(PFKM):c.594-16T>C
|
|
|
NM_000289.6(PFKM):c.594-17A>C
|
|
|
NM_000289.6(PFKM):c.594-17_594-16del
|
|
|
NM_000289.6(PFKM):c.594-18T>C
|
|
|
NM_000289.6(PFKM):c.594-19A>G
|
|
|
NM_000289.6(PFKM):c.594-20C>T
|
|
|
NM_000289.6(PFKM):c.594-4G>A
|
rs774807994
|
|
NM_000289.6(PFKM):c.594-5T>C
|
|
|
NM_000289.6(PFKM):c.594-7C>T
|
rs1458751002
|
|
NM_000289.6(PFKM):c.601A>C (p.Arg201=)
|
|
|
NM_000289.6(PFKM):c.606A>G (p.Thr202=)
|
rs2135907037
|
|
NM_000289.6(PFKM):c.627C>A (p.Gly209=)
|
rs930544072
|
|
NM_000289.6(PFKM):c.627C>G (p.Gly209=)
|
rs930544072
|
|
NM_000289.6(PFKM):c.638+12A>C
|
|
|
NM_000289.6(PFKM):c.638+18A>C
|
|
|
NM_000289.6(PFKM):c.638+18A>G
|
|
|
NM_000289.6(PFKM):c.638+7T>A
|
|
|
NM_000289.6(PFKM):c.639-10C>G
|
rs2135915213
|
|
NM_000289.6(PFKM):c.639-17T>C
|
|
|
NM_000289.6(PFKM):c.639-7A>T
|
|
|
NM_000289.6(PFKM):c.639-8C>T
|
|
|
NM_000289.6(PFKM):c.657C>T (p.Thr219=)
|
|
|
NM_000289.6(PFKM):c.660T>C (p.Ser220=)
|
|
|
NM_000289.6(PFKM):c.666C>T (p.Ser222=)
|
rs1249664880
|
|
NM_000289.6(PFKM):c.687T>C (p.Phe229=)
|
rs2135915804
|
|
NM_000289.6(PFKM):c.702A>C (p.Pro234=)
|
rs138022863
|
|
NM_000289.6(PFKM):c.702A>G (p.Pro234=)
|
rs138022863
|
|
NM_000289.6(PFKM):c.708T>C (p.Asp236=)
|
|
|
NM_000289.6(PFKM):c.720G>A (p.Glu240=)
|
|
|
NM_000289.6(PFKM):c.732T>C (p.Cys244=)
|
rs1406800853
|
|
NM_000289.6(PFKM):c.735C>T (p.Arg245=)
|
rs2135916916
|
|
NM_000289.6(PFKM):c.747+10C>G
|
|
|
NM_000289.6(PFKM):c.747+19_747+24del
|
|
|
NM_000289.6(PFKM):c.747+7_747+12del
|
|
|
NM_000289.6(PFKM):c.747+8C>T
|
|
|
NM_000289.6(PFKM):c.747+9A>G
|
rs2135917272
|
|
NM_000289.6(PFKM):c.748-18C>T
|
|
|
NM_000289.6(PFKM):c.748-19A>G
|
|
|
NM_000289.6(PFKM):c.748-4C>T
|
rs2135919001
|
|
NM_000289.6(PFKM):c.748-6A>G
|
rs2135918960
|
|
NM_000289.6(PFKM):c.765T>G (p.Ser255=)
|
|
|
NM_000289.6(PFKM):c.768T>C (p.Arg256=)
|
|
|
NM_000289.6(PFKM):c.774C>T (p.Asn258=)
|
rs894740706
|
|
NM_000289.6(PFKM):c.777C>T (p.Ile259=)
|
rs2135919616
|
|
NM_000289.6(PFKM):c.783T>A (p.Ile261=)
|
|
|
NM_000289.6(PFKM):c.783T>C (p.Ile261=)
|
|
|
NM_000289.6(PFKM):c.786G>A (p.Val262=)
|
|
|
NM_000289.6(PFKM):c.789T>C (p.Ala263=)
|
|
|
NM_000289.6(PFKM):c.819A>G (p.Pro273=)
|
|
|
NM_000289.6(PFKM):c.843+16G>A
|
|
|
NM_000289.6(PFKM):c.843+20G>A
|
|
|
NM_000289.6(PFKM):c.844-11G>T
|
|
|
NM_000289.6(PFKM):c.844-6C>T
|
rs769686642
|
|
NM_000289.6(PFKM):c.85+11G>C
|
|
|
NM_000289.6(PFKM):c.85+13G>A
|
|
|
NM_000289.6(PFKM):c.85+16del
|
|
|
NM_000289.6(PFKM):c.85+8G>T
|
rs772038099
|
|
NM_000289.6(PFKM):c.85+9G>A
|
rs777960882
|
|
NM_000289.6(PFKM):c.85+9del
|
|
|
NM_000289.6(PFKM):c.852T>G (p.Val284=)
|
|
|
NM_000289.6(PFKM):c.859C>T (p.Leu287=)
|
rs925038213
|
|
NM_000289.6(PFKM):c.86-14G>T
|
|
|
NM_000289.6(PFKM):c.86-5T>C
|
|
|
NM_000289.6(PFKM):c.86-8C>T
|
|
|
NM_000289.6(PFKM):c.867T>C (p.Tyr289=)
|
|
|
NM_000289.6(PFKM):c.870C>T (p.Asp290=)
|
rs2135924488
|
|
NM_000289.6(PFKM):c.873C>A (p.Thr291=)
|
|
|
NM_000289.6(PFKM):c.879T>C (p.Val293=)
|
|
|
NM_000289.6(PFKM):c.886T>C (p.Leu296=)
|
|
|
NM_000289.6(PFKM):c.891G>T (p.Gly297=)
|
rs2135924830
|
|
NM_000289.6(PFKM):c.903G>A (p.Arg301=)
|
rs2135924903
|
|
NM_000289.6(PFKM):c.921C>T (p.Ala307=)
|
rs2135925089
|
|
NM_000289.6(PFKM):c.936+10T>C
|
rs2135925401
|
|
NM_000289.6(PFKM):c.936+10_936+28del
|
|
|
NM_000289.6(PFKM):c.936+12G>C
|
|
|
NM_000289.6(PFKM):c.936+20G>A
|
|
|
NM_000289.6(PFKM):c.936+9C>T
|
|
|
NM_000289.6(PFKM):c.937-13T>C
|
|
|
NM_000289.6(PFKM):c.937-15T>C
|
|
|
NM_000289.6(PFKM):c.937-18T>A
|
|
|
NM_000289.6(PFKM):c.937-19G>A
|
|
|
NM_000289.6(PFKM):c.937-4G>A
|
rs1175020971
|
|
NM_000289.6(PFKM):c.937-6C>T
|
rs1245827075
|
|
NM_000289.6(PFKM):c.937-8T>A
|
|
|
NM_000289.6(PFKM):c.937-8T>C
|
rs2135956395
|
|
NM_000289.6(PFKM):c.93T>C (p.Asn31=)
|
rs2135841860
|
|
NM_000289.6(PFKM):c.942C>T (p.Ser314=)
|
|
|
NM_000289.6(PFKM):c.943A>C (p.Arg315=)
|
|
|
NM_000289.6(PFKM):c.945G>A (p.Arg315=)
|
|
|
NM_000289.6(PFKM):c.954G>A (p.Val318=)
|
|
|
NM_000289.6(PFKM):c.957A>G (p.Glu319=)
|
|
|
NM_000289.6(PFKM):c.972T>A (p.Leu324=)
|
|
|
NM_000289.6(PFKM):c.987A>G (p.Pro329=)
|
rs932393961
|
|
NM_000289.6(PFKM):c.996A>G (p.Pro332=)
|
|
|
NM_000289.6(PFKM):c.9T>C (p.His3=)
|
|
|
NM_000355.4(TCN2):c.1000C>T (p.Leu334=)
|
|
|
NM_000355.4(TCN2):c.1017C>T (p.Leu339=)
|
rs35997415
|
|
NM_000355.4(TCN2):c.1020G>A (p.Leu340=)
|
|
|
NM_000355.4(TCN2):c.1026G>A (p.Pro342=)
|
|
|
NM_000355.4(TCN2):c.1026G>T (p.Pro342=)
|
|
|
NM_000355.4(TCN2):c.1038C>T (p.Ser346=)
|
|
|
NM_000355.4(TCN2):c.1041C>A (p.Ile347=)
|
rs750640912
|
|
NM_000355.4(TCN2):c.1048C>T (p.Leu350=)
|
|
|
NM_000355.4(TCN2):c.105C>T (p.Gly35=)
|
|
|
NM_000355.4(TCN2):c.1065G>A (p.Val355=)
|
|
|
NM_000355.4(TCN2):c.1075C>T (p.Leu359=)
|
|
|
NM_000355.4(TCN2):c.108G>A (p.Gln36=)
|
|
|
NM_000355.4(TCN2):c.1092G>A (p.Glu364=)
|
rs886057397
|
|
NM_000355.4(TCN2):c.1106+10C>T
|
|
|
NM_000355.4(TCN2):c.1106+11C>G
|
|
|
NM_000355.4(TCN2):c.1106+11C>T
|
rs2145548417
|
|
NM_000355.4(TCN2):c.1106+13_1106+19del
|
|
|
NM_000355.4(TCN2):c.1106+14C>T
|
|
|
NM_000355.4(TCN2):c.1106+17C>T
|
|
|
NM_000355.4(TCN2):c.1107-11C>G
|
|
|
NM_000355.4(TCN2):c.1107-11C>T
|
rs375069878
|
|
NM_000355.4(TCN2):c.1107-15C>T
|
|
|
NM_000355.4(TCN2):c.1107-17G>T
|
|
|
NM_000355.4(TCN2):c.1107-18T>C
|
|
|
NM_000355.4(TCN2):c.1107-6C>T
|
|
|
NM_000355.4(TCN2):c.1107-7T>G
|
|
|
NM_000355.4(TCN2):c.1107-9C>T
|
|
|
NM_000355.4(TCN2):c.1122C>T (p.Ala374=)
|
|
|
NM_000355.4(TCN2):c.1131A>G (p.Ser377=)
|
|
|
NM_000355.4(TCN2):c.1134C>T (p.Gly378=)
|
|
|
NM_000355.4(TCN2):c.1149C>T (p.Ser383=)
|
|
|
NM_000355.4(TCN2):c.114C>G (p.Leu38=)
|
|
|
NM_000355.4(TCN2):c.1158G>A (p.Gly386=)
|
|
|
NM_000355.4(TCN2):c.1164G>A (p.Ala388=)
|
rs147747593
|
|
NM_000355.4(TCN2):c.1164G>C (p.Ala388=)
|
|
|
NM_000355.4(TCN2):c.1179G>A (p.Glu393=)
|
|
|
NM_000355.4(TCN2):c.1191T>C (p.Leu397=)
|
|
|
NM_000355.4(TCN2):c.1195C>A (p.Arg399=)
|
|
|
NM_000355.4(TCN2):c.1206C>T (p.Asn402=)
|
rs1569045801
|
|
NM_000355.4(TCN2):c.120T>C (p.Pro40=)
|
|
|
NM_000355.4(TCN2):c.1212A>G (p.Pro404=)
|
|
|
NM_000355.4(TCN2):c.1222+11G>A
|
|
|
NM_000355.4(TCN2):c.1222+11G>T
|
|
|
NM_000355.4(TCN2):c.1222+19C>T
|
rs2087722409
|
|
NM_000355.4(TCN2):c.1223-10_1223-9del
|
|
|
NM_000355.4(TCN2):c.1223-15A>C
|
|
|
NM_000355.4(TCN2):c.1223-18C>G
|
|
|
NM_000355.4(TCN2):c.1223-18C>T
|
|
|
NM_000355.4(TCN2):c.1223-19G>C
|
|
|
NM_000355.4(TCN2):c.1223-20T>C
|
|
|
NM_000355.4(TCN2):c.1223-22_1223-20del
|
|
|
NM_000355.4(TCN2):c.1223-5T>G
|
|
|
NM_000355.4(TCN2):c.1223-6C>A
|
|
|
NM_000355.4(TCN2):c.1223-6C>T
|
|
|
NM_000355.4(TCN2):c.1227T>C (p.Ile409=)
|
|
|
NM_000355.4(TCN2):c.1251A>C (p.Gly417=)
|
|
|
NM_000355.4(TCN2):c.1263G>A (p.Glu421=)
|
rs1385370129
|
|
NM_000355.4(TCN2):c.1266G>A (p.Leu422=)
|
|
|
NM_000355.4(TCN2):c.150G>A (p.Leu50=)
|
rs921002639
|
|
NM_000355.4(TCN2):c.153C>T (p.Asn51=)
|
|
|
NM_000355.4(TCN2):c.156C>T (p.Pro52=)
|
|
|
NM_000355.4(TCN2):c.159C>T (p.Ser53=)
|
|
|
NM_000355.4(TCN2):c.168G>A (p.Val56=)
|
rs2145536712
|
|
NM_000355.4(TCN2):c.171C>A (p.Gly57=)
|
|
|
NM_000355.4(TCN2):c.171C>T (p.Gly57=)
|
|
|
NM_000355.4(TCN2):c.174A>T (p.Leu58=)
|
rs764601482
|
|
NM_000355.4(TCN2):c.177C>G (p.Arg59=)
|
|
|
NM_000355.4(TCN2):c.177C>T (p.Arg59=)
|
|
|
NM_000355.4(TCN2):c.180C>T (p.Leu60=)
|
|
|
NM_000355.4(TCN2):c.18C>T (p.Ala6=)
|
|
|
NM_000355.4(TCN2):c.201C>G (p.Thr67=)
|
|
|
NM_000355.4(TCN2):c.216C>T (p.Tyr72=)
|
|
|
NM_000355.4(TCN2):c.21C>T (p.Phe7=)
|
|
|
NM_000355.4(TCN2):c.24C>G (p.Leu8=)
|
|
|
NM_000355.4(TCN2):c.252C>G (p.Leu84=)
|
|
|
NM_000355.4(TCN2):c.257+10C>T
|
|
|
NM_000355.4(TCN2):c.257+12C>T
|
|
|
NM_000355.4(TCN2):c.257+12CT[2]
|
|
|
NM_000355.4(TCN2):c.257+15dup
|
|
|
NM_000355.4(TCN2):c.257+16C>T
|
|
|
NM_000355.4(TCN2):c.257+17T>C
|
|
|
NM_000355.4(TCN2):c.257+7C>G
|
|
|
NM_000355.4(TCN2):c.257+7C>T
|
|
|
NM_000355.4(TCN2):c.258-11C>A
|
rs746958412
|
|
NM_000355.4(TCN2):c.258-11C>G
|
|
|
NM_000355.4(TCN2):c.258-11C>T
|
|
|
NM_000355.4(TCN2):c.258-14T>G
|
|
|
NM_000355.4(TCN2):c.258-15C>T
|
|
|
NM_000355.4(TCN2):c.258-18dup
|
|
|
NM_000355.4(TCN2):c.258-9T>G
|
rs2145540026
|
|
NM_000355.4(TCN2):c.267C>T (p.Phe89=)
|
|
|
NM_000355.4(TCN2):c.27C>T (p.Phe9=)
|
|
|
NM_000355.4(TCN2):c.285C>T (p.Asp95=)
|
|
|
NM_000355.4(TCN2):c.288C>T (p.Cys96=)
|
|
|
NM_000355.4(TCN2):c.297G>A (p.Lys99=)
|
|
|
NM_000355.4(TCN2):c.30T>A (p.Leu10=)
|
rs2145528985
|
|
NM_000355.4(TCN2):c.312G>A (p.Gln104=)
|
|
|
NM_000355.4(TCN2):c.318C>T (p.Ala106=)
|
|
|
NM_000355.4(TCN2):c.324C>T (p.Tyr108=)
|
|
|
NM_000355.4(TCN2):c.325C>T (p.Leu109=)
|
|
|
NM_000355.4(TCN2):c.327G>A (p.Leu109=)
|
|
|
NM_000355.4(TCN2):c.327G>T (p.Leu109=)
|
|
|
NM_000355.4(TCN2):c.330C>A (p.Leu110=)
|
|
|
NM_000355.4(TCN2):c.33G>A (p.Leu11=)
|
|
|
NM_000355.4(TCN2):c.342C>T (p.Ala114=)
|
|
|
NM_000355.4(TCN2):c.345C>T (p.Asn115=)
|
|
|
NM_000355.4(TCN2):c.372G>C (p.Gly124=)
|
|
|
NM_000355.4(TCN2):c.381G>A (p.Leu127=)
|
rs2145540343
|
|
NM_000355.4(TCN2):c.402C>T (p.Phe134=)
|
rs781606712
|
|
NM_000355.4(TCN2):c.423C>T (p.Ala141=)
|
|
|
NM_000355.4(TCN2):c.427+10C>T
|
|
|
NM_000355.4(TCN2):c.427+12C>G
|
|
|
NM_000355.4(TCN2):c.427+17C>A
|
|
|
NM_000355.4(TCN2):c.427+18G>C
|
|
|
NM_000355.4(TCN2):c.427+18G>T
|
rs373712632
|
|
NM_000355.4(TCN2):c.427+20T>C
|
|
|
NM_000355.4(TCN2):c.427+7A>G
|
|
|
NM_000355.4(TCN2):c.427+8G>A
|
|
|
NM_000355.4(TCN2):c.427+8G>T
|
|
|
NM_000355.4(TCN2):c.427+9A>G
|
|
|
NM_000355.4(TCN2):c.428-10T>C
|
rs2145542622
|
|
NM_000355.4(TCN2):c.428-11T>G
|
|
|
NM_000355.4(TCN2):c.428-14T>G
|
|
|
NM_000355.4(TCN2):c.428-17_428-16del
|
rs754484246
|
|
NM_000355.4(TCN2):c.428-17_428-16dup
|
|
|
NM_000355.4(TCN2):c.428-18dup
|
|
|
NM_000355.4(TCN2):c.428-19_428-18del
|
|
|
NM_000355.4(TCN2):c.428-4_428-3del
|
|
|
NM_000355.4(TCN2):c.428-5C>G
|
|
|
NM_000355.4(TCN2):c.428-5C>T
|
|
|
NM_000355.4(TCN2):c.428-7C>G
|
|
|
NM_000355.4(TCN2):c.428-9C>A
|
|
|
NM_000355.4(TCN2):c.428-9C>T
|
|
|
NM_000355.4(TCN2):c.429G>T (p.Gly143=)
|
|
|
NM_000355.4(TCN2):c.441G>A (p.Lys147=)
|
|
|
NM_000355.4(TCN2):c.462C>T (p.Tyr154=)
|
|
|
NM_000355.4(TCN2):c.474C>G (p.Gly158=)
|
|
|
NM_000355.4(TCN2):c.475C>T (p.Leu159=)
|
|
|
NM_000355.4(TCN2):c.484C>T (p.Leu162=)
|
|
|
NM_000355.4(TCN2):c.486G>A (p.Leu162=)
|
rs199546693
|
|
NM_000355.4(TCN2):c.489C>T (p.Ala163=)
|
|
|
NM_000355.4(TCN2):c.504G>A (p.Gln168=)
|
|
|
NM_000355.4(TCN2):c.507G>A (p.Lys169=)
|
|
|
NM_000355.4(TCN2):c.525G>C (p.Val175=)
|
|
|
NM_000355.4(TCN2):c.538C>T (p.Leu180=)
|
|
|
NM_000355.4(TCN2):c.540G>A (p.Leu180=)
|
|
|
NM_000355.4(TCN2):c.54T>C (p.Thr18=)
|
|
|
NM_000355.4(TCN2):c.570C>T (p.His190=)
|
|
|
NM_000355.4(TCN2):c.57G>A (p.Glu19=)
|
|
|
NM_000355.4(TCN2):c.580+10T>C
|
|
|
NM_000355.4(TCN2):c.580+17G>A
|
rs184174370
|
|
NM_000355.4(TCN2):c.580+17G>T
|
|
|
NM_000355.4(TCN2):c.580+20C>T
|
|
|
NM_000355.4(TCN2):c.580+7A>G
|
|
|
NM_000355.4(TCN2):c.581-15G>A
|
|
|
NM_000355.4(TCN2):c.581-176A>C
|
|
|
NM_000355.4(TCN2):c.581-176A>G
|
|
|
NM_000355.4(TCN2):c.581-20G>A
|
|
|
NM_000355.4(TCN2):c.581-7C>A
|
rs550090290
|
|
NM_000355.4(TCN2):c.581-8del
|
rs2145544168
|
|
NM_000355.4(TCN2):c.582C>T (p.Asp194=)
|
|
|
NM_000355.4(TCN2):c.585A>G (p.Thr195=)
|
|
|
NM_000355.4(TCN2):c.600C>G (p.Gly200=)
|
|
|
NM_000355.4(TCN2):c.609C>T (p.Phe203=)
|
rs1336980912
|
|
NM_000355.4(TCN2):c.616C>T (p.Leu206=)
|
|
|
NM_000355.4(TCN2):c.627A>G (p.Ser209=)
|
|
|
NM_000355.4(TCN2):c.64+12G>A
|
|
|
NM_000355.4(TCN2):c.64+14C>T
|
|
|
NM_000355.4(TCN2):c.64+15T>C
|
|
|
NM_000355.4(TCN2):c.64+16C>G
|
rs2145529135
|
|
NM_000355.4(TCN2):c.64+18A>G
|
|
|
NM_000355.4(TCN2):c.64+19T>A
|
|
|
NM_000355.4(TCN2):c.64+20C>T
|
|
|
NM_000355.4(TCN2):c.64+9C>T
|
|
|
NM_000355.4(TCN2):c.648A>G (p.Arg216=)
|
|
|
NM_000355.4(TCN2):c.65-10C>A
|
|
|
NM_000355.4(TCN2):c.65-10C>T
|
|
|
NM_000355.4(TCN2):c.65-6del
|
rs748765421
|
|
NM_000355.4(TCN2):c.65-7T>C
|
|
|
NM_000355.4(TCN2):c.65-9T>C
|
|
|
NM_000355.4(TCN2):c.660C>T (p.Thr220=)
|
|
|
NM_000355.4(TCN2):c.666C>T (p.Ala222=)
|
|
|
NM_000355.4(TCN2):c.675A>G (p.Thr225=)
|
|
|
NM_000355.4(TCN2):c.690C>A (p.Ile230=)
|
rs779288271
|
|
NM_000355.4(TCN2):c.691T>C (p.Leu231=)
|
|
|
NM_000355.4(TCN2):c.705C>T (p.Thr235=)
|
rs1016983766
|
|
NM_000355.4(TCN2):c.708C>G (p.Pro236=)
|
|
|
NM_000355.4(TCN2):c.714C>T (p.Gly238=)
|
|
|
NM_000355.4(TCN2):c.717C>T (p.His239=)
|
|
|
NM_000355.4(TCN2):c.720T>C (p.Phe240=)
|
rs368425204
|
|
NM_000355.4(TCN2):c.729C>T (p.Val243=)
|
|
|
NM_000355.4(TCN2):c.738C>G (p.Thr246=)
|
|
|
NM_000355.4(TCN2):c.741A>G (p.Pro247=)
|
|
|
NM_000355.4(TCN2):c.742T>C (p.Leu248=)
|
|
|
NM_000355.4(TCN2):c.753+14C>T
|
|
|
NM_000355.4(TCN2):c.753+15C>T
|
|
|
NM_000355.4(TCN2):c.753+18G>A
|
|
|
NM_000355.4(TCN2):c.753+20G>A
|
|
|
NM_000355.4(TCN2):c.753+7A>G
|
rs758687066
|
|
NM_000355.4(TCN2):c.753+9G>A
|
|
|
NM_000355.4(TCN2):c.754-11T>A
|
|
|
NM_000355.4(TCN2):c.754-12C>T
|
|
|
NM_000355.4(TCN2):c.754-13A>G
|
rs754588956
|
|
NM_000355.4(TCN2):c.754-13_754-10del
|
|
|
NM_000355.4(TCN2):c.754-14C>G
|
|
|
NM_000355.4(TCN2):c.754-17C>T
|
|
|
NM_000355.4(TCN2):c.754-18T>C
|
|
|
NM_000355.4(TCN2):c.754-4C>A
|
rs72550761
|
|
NM_000355.4(TCN2):c.754-8A>G
|
|
|
NM_000355.4(TCN2):c.754-8_754-7del
|
|
|
NM_000355.4(TCN2):c.754-9dup
|
|
|
NM_000355.4(TCN2):c.756C>T (p.Phe252=)
|
|
|
NM_000355.4(TCN2):c.759C>T (p.Leu253=)
|
|
|
NM_000355.4(TCN2):c.810G>T (p.Ala270=)
|
rs61748898
|
|
NM_000355.4(TCN2):c.81C>T (p.Asp27=)
|
|
|
NM_000355.4(TCN2):c.822G>A (p.Leu274=)
|
|
|
NM_000355.4(TCN2):c.828C>T (p.Ala276=)
|
|
|
NM_000355.4(TCN2):c.837G>A (p.Gln279=)
|
|
|
NM_000355.4(TCN2):c.843A>T (p.Gly281=)
|
rs979235252
|
|
NM_000355.4(TCN2):c.855T>C (p.Asn285=)
|
|
|
NM_000355.4(TCN2):c.858T>G (p.Ala286=)
|
rs988793927
|
|
NM_000355.4(TCN2):c.861C>G (p.Leu287=)
|
|
|
NM_000355.4(TCN2):c.861C>T (p.Leu287=)
|
|
|
NM_000355.4(TCN2):c.873G>A (p.Gln291=)
|
|
|
NM_000355.4(TCN2):c.879G>A (p.Leu293=)
|
rs777393779
|
|
NM_000355.4(TCN2):c.879G>T (p.Leu293=)
|
rs777393779
|
|
NM_000355.4(TCN2):c.882C>A (p.Pro294=)
|
|
|
NM_000355.4(TCN2):c.885T>C (p.Val295=)
|
|
|
NM_000355.4(TCN2):c.888G>A (p.Leu296=)
|
|
|
NM_000355.4(TCN2):c.88C>T (p.Leu30=)
|
|
|
NM_000355.4(TCN2):c.891C>T (p.Asn297=)
|
|
|
NM_000355.4(TCN2):c.900C>T (p.Thr300=)
|
|
|
NM_000355.4(TCN2):c.910C>T (p.Leu304=)
|
|
|
NM_000355.4(TCN2):c.912G>C (p.Leu304=)
|
|
|
NM_000355.4(TCN2):c.936A>G (p.Pro312=)
|
|
|
NM_000355.4(TCN2):c.940+10C>A
|
|
|
NM_000355.4(TCN2):c.941-13C>A
|
|
|
NM_000355.4(TCN2):c.941-13C>G
|
|
|
NM_000355.4(TCN2):c.941-14T>C
|
|
|
NM_000355.4(TCN2):c.941-17C>G
|
|
|
NM_000355.4(TCN2):c.941-17C>T
|
|
|
NM_000355.4(TCN2):c.941-18C>T
|
|
|
NM_000355.4(TCN2):c.941-4A>G
|
|
|
NM_000355.4(TCN2):c.941-5C>T
|
|
|
NM_000355.4(TCN2):c.941-8T>C
|
rs2145547976
|
|
NM_000355.4(TCN2):c.941-9_941-5del
|
rs1602050074
|
|
NM_000355.4(TCN2):c.981A>G (p.Gln327=)
|
|
|
NM_000355.4(TCN2):c.987C>A (p.Ile329=)
|
rs755892011
|
|
NM_000969.5(RPL5):c.138A>C (p.Thr46=)
|
|
|
NM_000969.5(RPL5):c.189+20G>A
|
|
|
NM_000969.5(RPL5):c.190-10C>T
|
|
|
NM_000969.5(RPL5):c.190-18G>C
|
|
|
NM_000969.5(RPL5):c.190-18G>T
|
|
|
NM_000969.5(RPL5):c.190-6C>A
|
|
|
NM_000969.5(RPL5):c.198T>C (p.Tyr66=)
|
|
|
NM_000969.5(RPL5):c.234G>A (p.Ala78=)
|
|
|
NM_000969.5(RPL5):c.294A>G (p.Ala98=)
|
|
|
NM_000969.5(RPL5):c.3+11G>C
|
rs376414614
|
|
NM_000969.5(RPL5):c.3+18T>G
|
|
|
NM_000969.5(RPL5):c.3+19C>G
|
|
|
NM_000969.5(RPL5):c.310C>T (p.Leu104=)
|
rs766476007
|
|
NM_000969.5(RPL5):c.324+8C>A
|
|
|
NM_000969.5(RPL5):c.325-16T>C
|
rs1687116560
|
|
NM_000969.5(RPL5):c.325-17A>G
|
rs2100684491
|
|
NM_000969.5(RPL5):c.393T>C (p.Asn131=)
|
|
|
NM_000969.5(RPL5):c.399A>G (p.Glu133=)
|
|
|
NM_000969.5(RPL5):c.4-17A>T
|
|
|
NM_000969.5(RPL5):c.4-7C>T
|
|
|
NM_000969.5(RPL5):c.4-7del
|
rs1291987734
|
|
NM_000969.5(RPL5):c.4-9T>C
|
|
|
NM_000969.5(RPL5):c.426C>G (p.Phe142Leu)
|
rs11540836
|
|
NM_000969.5(RPL5):c.468C>T (p.Gly156=)
|
|
|
NM_000969.5(RPL5):c.51A>G (p.Gln17=)
|
|
|
NM_000969.5(RPL5):c.527+14_527+17dup
|
|
|
NM_000969.5(RPL5):c.527+20C>T
|
|
|
NM_000969.5(RPL5):c.527+7A>T
|
|
|
NM_000969.5(RPL5):c.527+7_527+19del
|
rs2100685123
|
|
NM_000969.5(RPL5):c.528-17G>A
|
|
|
NM_000969.5(RPL5):c.528-20T>C
|
|
|
NM_000969.5(RPL5):c.549T>C (p.Tyr183=)
|
|
|
NM_000969.5(RPL5):c.576A>G (p.Ala192=)
|
|
|
NM_000969.5(RPL5):c.651T>C (p.Asp217=)
|
|
|
NM_000969.5(RPL5):c.6G>A (p.Gly2=)
|
|
|
NM_000969.5(RPL5):c.701A>G (p.Asp234Gly)
|
rs576330538
|
|
NM_000969.5(RPL5):c.705+14C>T
|
rs2100688720
|
|
NM_000969.5(RPL5):c.706-10T>C
|
|
|
NM_000969.5(RPL5):c.706-13T>A
|
|
|
NM_000969.5(RPL5):c.73+10C>T
|
|
|
NM_000969.5(RPL5):c.73+9dup
|
|
|
NM_000969.5(RPL5):c.74-15_74-13del
|
rs2100676802
|
|
NM_000969.5(RPL5):c.74-7C>T
|
|
|
NM_000969.5(RPL5):c.744A>G (p.Arg248=)
|
|
|
NM_000969.5(RPL5):c.78T>G (p.Gly26=)
|
|
|
NM_000969.5(RPL5):c.794+10_794+12del
|
rs1557444104
|
|
NM_000969.5(RPL5):c.795-14C>A
|
|
|
NM_000969.5(RPL5):c.795-14C>G
|
|
|
NM_000975.5(RPL11):c.118T>C (p.Leu40=)
|
|
|
NM_000975.5(RPL11):c.123G>A (p.Glu41=)
|
|
|
NM_000975.5(RPL11):c.157+7dup
|
|
|
NM_000975.5(RPL11):c.157+9T>G
|
|
|
NM_000975.5(RPL11):c.158-7C>G
|
rs768654673
|
|
NM_000975.5(RPL11):c.189G>A (p.Arg63=)
|
rs764531667
|
|
NM_000975.5(RPL11):c.219A>G (p.Thr73=)
|
|
|
NM_000975.5(RPL11):c.222T>G (p.Val74=)
|
|
|
NM_000975.5(RPL11):c.264+13C>T
|
|
|
NM_000975.5(RPL11):c.264+15C>A
|
rs765761574
|
|
NM_000975.5(RPL11):c.264+16del
|
|
|
NM_000975.5(RPL11):c.265-6C>T
|
|
|
NM_000975.5(RPL11):c.285A>G (p.Arg95=)
|
|
|
NM_000975.5(RPL11):c.343C>T (p.Leu115=)
|
rs770189198
|
|
NM_000975.5(RPL11):c.375C>T (p.Ile125=)
|
rs2124431138
|
|
NM_000975.5(RPL11):c.426A>G (p.Ala142=)
|
|
|
NM_000975.5(RPL11):c.438C>A (p.Arg146=)
|
|
|
NM_000975.5(RPL11):c.504G>A (p.Gln168=)
|
|
|
NM_000975.5(RPL11):c.507+16C>T
|
|
|
NM_000975.5(RPL11):c.508-12C>G
|
|
|
NM_000975.5(RPL11):c.508-20_508-17del
|
|
|
NM_000975.5(RPL11):c.508-7C>T
|
|
|
NM_000975.5(RPL11):c.6+10T>A
|
|
|
NM_000975.5(RPL11):c.6+12G>C
|
|
|
NM_000975.5(RPL11):c.6+14A>G
|
rs376826360
|
|
NM_000975.5(RPL11):c.6+15C>T
|
rs753341830
|
|
NM_000975.5(RPL11):c.6+16C>G
|
|
|
NM_000975.5(RPL11):c.6+18_6+19delinsAT
|
rs2124428020
|
|
NM_000975.5(RPL11):c.6+19G>C
|
|
|
NM_000975.5(RPL11):c.6+20A>T
|
|
|
NM_000975.5(RPL11):c.6+8G>T
|
|
|
NM_000975.5(RPL11):c.60C>G (p.Leu20=)
|
rs2124429060
|
|
NM_000975.5(RPL11):c.7-10C>T
|
rs773406981
|
|
NM_000975.5(RPL11):c.7-19C>T
|
|
|
NM_000975.5(RPL11):c.7-6T>G
|
|
|
NM_000975.5(RPL11):c.7-7G>C
|
|
|
NM_000975.5(RPL11):c.7-9C>T
|
rs558662093
|
|
NM_000975.5(RPL11):c.75T>C (p.Cys25=)
|
|
|
NM_000975.5(RPL11):c.87T>C (p.Ser29=)
|
|
|
NM_000975.5(RPL11):c.94A>C (p.Arg32=)
|
|
|
NM_000987.5(RPL26):c.105C>G (p.Ser35=)
|
|
|
NM_000987.5(RPL26):c.15C>G (p.Pro5=)
|
|
|
NM_000987.5(RPL26):c.15C>T (p.Pro5=)
|
|
|
NM_000987.5(RPL26):c.168+11C>G
|
|
|
NM_000987.5(RPL26):c.168+15T>G
|
|
|
NM_000987.5(RPL26):c.168+18T>G
|
|
|
NM_000987.5(RPL26):c.169-19C>T
|
|
|
NM_000987.5(RPL26):c.180A>G (p.Gly60=)
|
|
|
NM_000987.5(RPL26):c.234T>C (p.Tyr78=)
|
|
|
NM_000987.5(RPL26):c.243C>T (p.Tyr81=)
|
|
|
NM_000987.5(RPL26):c.276C>A (p.Gly92=)
|
|
|
NM_000987.5(RPL26):c.300C>T (p.His100=)
|
|
|
NM_000987.5(RPL26):c.309+13G>T
|
|
|
NM_000987.5(RPL26):c.309+18T>C
|
|
|
NM_000987.5(RPL26):c.309+7G>T
|
|
|
NM_000987.5(RPL26):c.357C>G (p.Leu119=)
|
|
|
NM_000987.5(RPL26):c.369C>T (p.Ala123=)
|
|
|
NM_000987.5(RPL26):c.384A>T (p.Val128=)
|
rs201307266
|
|
NM_000987.5(RPL26):c.408G>A (p.Lys136=)
|
|
|
NM_000987.5(RPL26):c.426G>A (p.Lys142=)
|
|
|
NM_000987.5(RPL26):c.45C>T (p.Arg15=)
|
|
|
NM_000987.5(RPL26):c.72C>T (p.His24=)
|
|
|
NM_000996.4(RPL35A):c.105C>T (p.Ala35=)
|
|
|
NM_000996.4(RPL35A):c.12-18G>T
|
|
|
NM_000996.4(RPL35A):c.12-4T>G
|
|
|
NM_000996.4(RPL35A):c.12-5C>T
|
|
|
NM_000996.4(RPL35A):c.12-7G>T
|
rs2109804559
|
|
NM_000996.4(RPL35A):c.147T>C (p.Tyr49=)
|
|
|
NM_000996.4(RPL35A):c.164+13C>T
|
rs2109805109
|
|
NM_000996.4(RPL35A):c.164+15C>G
|
rs890177445
|
|
NM_000996.4(RPL35A):c.164+15C>T
|
|
|
NM_000996.4(RPL35A):c.165-15C>G
|
|
|
NM_000996.4(RPL35A):c.165-20C>T
|
|
|
NM_000996.4(RPL35A):c.183C>T (p.Gly61=)
|
rs370212853
|
|
NM_000996.4(RPL35A):c.186C>T (p.Gly62=)
|
|
|
NM_000996.4(RPL35A):c.204A>G (p.Arg68=)
|
|
|
NM_000996.4(RPL35A):c.258C>A (p.Ala86=)
|
|
|
NM_000996.4(RPL35A):c.282T>G (p.Ala94=)
|
|
|
NM_000996.4(RPL35A):c.309+7A>G
|
|
|
NM_000996.4(RPL35A):c.310-20G>A
|
rs200360699
|
|
NM_000996.4(RPL35A):c.310-20G>C
|
rs200360699
|
|
NM_000996.4(RPL35A):c.310-6del
|
rs2109818917
|
|
NM_000996.4(RPL35A):c.321C>T (p.Pro107=)
|
|
|
NM_000996.4(RPL35A):c.324A>G (p.Ser108=)
|
rs751160471
|
|
NM_000996.4(RPL35A):c.332A>G (p.Ter111=)
|
|
|
NM_000996.4(RPL35A):c.33T>C (p.Phe11=)
|
rs751752645
|
|
NM_000996.4(RPL35A):c.75A>G (p.Thr25=)
|
rs1244935223
|
|
NM_000996.4(RPL35A):c.90T>C (p.Ile30=)
|
rs2109804838
|
|
NM_001011.4(RPS7):c.105C>T (p.Asp35=)
|
|
|
NM_001011.4(RPS7):c.120C>A (p.Leu40=)
|
|
|
NM_001011.4(RPS7):c.129G>A (p.Leu43=)
|
|
|
NM_001011.4(RPS7):c.147+14C>A
|
|
|
NM_001011.4(RPS7):c.147+15C>T
|
|
|
NM_001011.4(RPS7):c.147+16C>T
|
rs912491105
|
|
NM_001011.4(RPS7):c.147+7T>C
|
|
|
NM_001011.4(RPS7):c.147+8G>A
|
rs2147819351
|
|
NM_001011.4(RPS7):c.148-19T>A
|
|
|
NM_001011.4(RPS7):c.148-20A>C
|
|
|
NM_001011.4(RPS7):c.148-20A>G
|
|
|
NM_001011.4(RPS7):c.177T>C (p.Ala59=)
|
|
|
NM_001011.4(RPS7):c.216C>T (p.Phe72=)
|
rs781328965
|
|
NM_001011.4(RPS7):c.234G>T (p.Arg78=)
|
|
|
NM_001011.4(RPS7):c.24C>A (p.Ile8=)
|
|
|
NM_001011.4(RPS7):c.24C>T (p.Ile8=)
|
|
|
NM_001011.4(RPS7):c.261C>T (p.Phe87=)
|
|
|
NM_001011.4(RPS7):c.273T>C (p.His91=)
|
rs1442216854
|
|
NM_001011.4(RPS7):c.276C>T (p.Val92=)
|
rs61730448
|
|
NM_001011.4(RPS7):c.291+19C>T
|
|
|
NM_001011.4(RPS7):c.292-7C>G
|
|
|
NM_001011.4(RPS7):c.292-8C>A
|
|
|
NM_001011.4(RPS7):c.292-8C>T
|
rs373405472
|
|
NM_001011.4(RPS7):c.292-9A>T
|
rs746941533
|
|
NM_001011.4(RPS7):c.336T>C (p.Asn112=)
|
|
|
NM_001011.4(RPS7):c.357-20C>A
|
|
|
NM_001011.4(RPS7):c.366G>A (p.Leu122=)
|
rs2147822425
|
|
NM_001011.4(RPS7):c.396C>T (p.Asp132=)
|
|
|
NM_001011.4(RPS7):c.405C>T (p.Phe135=)
|
|
|
NM_001011.4(RPS7):c.411C>T (p.Ser137=)
|
|
|
NM_001011.4(RPS7):c.444A>G (p.Leu148=)
|
|
|
NM_001011.4(RPS7):c.447T>C (p.Asp149=)
|
rs2147822460
|
|
NM_001011.4(RPS7):c.471T>C (p.His157=)
|
|
|
NM_001011.4(RPS7):c.486G>A (p.Gln162=)
|
|
|
NM_001011.4(RPS7):c.508-10T>C
|
|
|
NM_001011.4(RPS7):c.508-12C>G
|
rs2071639
|
|
NM_001011.4(RPS7):c.519T>C (p.Phe173=)
|
rs1572360947
|
|
NM_001011.4(RPS7):c.72C>T (p.Ser24=)
|
|
|
NM_001011.4(RPS7):c.75+8G>T
|
|
|
NM_001011.4(RPS7):c.76-12G>A
|
|
|
NM_001011.4(RPS7):c.76-12G>C
|
rs2147819267
|
|
NM_001011.4(RPS7):c.76-13C>G
|
|
|
NM_001011.4(RPS7):c.76-13C>T
|
|
|
NM_001011.4(RPS7):c.76-16G>A
|
rs767920442
|
|
NM_001011.4(RPS7):c.76-8C>G
|
|
|
NM_001011.4(RPS7):c.79C>A (p.Leu27Ile)
|
|
|
NM_001011.4(RPS7):c.81T>A (p.Leu27=)
|
|
|
NM_001011.4(RPS7):c.82C>T (p.Leu28=)
|
|
|
NM_001014.5(RPS10):c.150+17G>A
|
|
|
NM_001014.5(RPS10):c.150+9del
|
rs372641476
|
|
NM_001014.5(RPS10):c.151-20A>G
|
|
|
NM_001014.5(RPS10):c.151-4A>G
|
|
|
NM_001014.5(RPS10):c.165A>C (p.Arg55=)
|
|
|
NM_001014.5(RPS10):c.201C>T (p.Phe67=)
|
rs2113805419
|
|
NM_001014.5(RPS10):c.270G>A (p.Val90=)
|
|
|
NM_001014.5(RPS10):c.285C>T (p.Arg95=)
|
|
|
NM_001014.5(RPS10):c.288T>G (p.Arg96=)
|
|
|
NM_001014.5(RPS10):c.297A>G (p.Pro99=)
|
rs2113805269
|
|
NM_001014.5(RPS10):c.30C>A (p.Ala10=)
|
|
|
NM_001014.5(RPS10):c.322+13C>T
|
|
|
NM_001014.5(RPS10):c.322+15C>T
|
|
|
NM_001014.5(RPS10):c.322+17A>G
|
|
|
NM_001014.5(RPS10):c.323-18G>A
|
|
|
NM_001014.5(RPS10):c.323-19T>C
|
rs1765779305
|
|
NM_001014.5(RPS10):c.345G>A (p.Ala115=)
|
|
|
NM_001014.5(RPS10):c.357A>G (p.Arg119=)
|
|
|
NM_001014.5(RPS10):c.400+13A>G
|
|
|
NM_001014.5(RPS10):c.400+19dup
|
|
|
NM_001014.5(RPS10):c.400+20A>G
|
|
|
NM_001014.5(RPS10):c.401-10dup
|
|
|
NM_001014.5(RPS10):c.401-11dup
|
|
|
NM_001014.5(RPS10):c.401-16A>T
|
|
|
NM_001014.5(RPS10):c.408C>A (p.Ala136=)
|
rs147566753
|
|
NM_001014.5(RPS10):c.420C>T (p.Ala140=)
|
|
|
NM_001014.5(RPS10):c.457-6T>C
|
rs2113793989
|
|
NM_001014.5(RPS10):c.462C>T (p.Gly154=)
|
|
|
NM_001014.5(RPS10):c.471T>A (p.Gly157=)
|
|
|
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
|
|
|
NM_001018115.3(FANCD2):c.3335+8A>G
|
|
|
NM_001018115.3(FANCD2):c.3336-10C>G
|
|
|
NM_001018115.3(FANCD2):c.3336-4dup
|
|
|
NM_001018115.3(FANCD2):c.3336-8C>T
|
|
|
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
|
|
NM_001018115.3(FANCD2):c.3467-11T>G
|
|
|
NM_001018115.3(FANCD2):c.3467-12C>G
|
|
|
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=)
|
|
|
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
|
|
|
NM_001018115.3(FANCD2):c.3560+13G>A
|
|
|
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_001022.4(RPS19):c.108C>T (p.Thr36=)
|
|
|
NM_001022.4(RPS19):c.114G>A (p.Lys38=)
|
|
|
NM_001022.4(RPS19):c.120C>G (p.Ala40=)
|
|
|
NM_001022.4(RPS19):c.132G>A (p.Glu44=)
|
|
|
NM_001022.4(RPS19):c.141C>T (p.Pro47=)
|
|
|
NM_001022.4(RPS19):c.15T>A (p.Thr5=)
|
rs2123256038
|
|
NM_001022.4(RPS19):c.165G>A (p.Thr55=)
|
|
|
NM_001022.4(RPS19):c.172+17T>C
|
|
|
NM_001022.4(RPS19):c.173-16C>T
|
|
|
NM_001022.4(RPS19):c.173-20C>G
|
|
|
NM_001022.4(RPS19):c.173-20C>T
|
|
|
NM_001022.4(RPS19):c.173-6C>T
|
|
|
NM_001022.4(RPS19):c.173-8_173-7delinsTT
|
rs2123283596
|
|
NM_001022.4(RPS19):c.213G>T (p.Gly71=)
|
|
|
NM_001022.4(RPS19):c.279C>T (p.Ser93=)
|
|
|
NM_001022.4(RPS19):c.288C>G (p.Ser96=)
|
|
|
NM_001022.4(RPS19):c.303C>T (p.Arg101=)
|
|
|
NM_001022.4(RPS19):c.330G>A (p.Leu110=)
|
rs2123284228
|
|
NM_001022.4(RPS19):c.342A>G (p.Glu114=)
|
|
|
NM_001022.4(RPS19):c.356+12A>G
|
|
|
NM_001022.4(RPS19):c.356+13G>T
|
|
|
NM_001022.4(RPS19):c.356+15G>A
|
|
|
NM_001022.4(RPS19):c.356+18G>T
|
rs61762294
|
|
NM_001022.4(RPS19):c.356+19G>A
|
|
|
NM_001022.4(RPS19):c.357-10C>T
|
|
|
NM_001022.4(RPS19):c.402C>T (p.Ile134=)
|
|
|
NM_001022.4(RPS19):c.411+11C>T
|
|
|
NM_001022.4(RPS19):c.411+19G>A
|
|
|
NM_001022.4(RPS19):c.411+20T>G
|
|
|
NM_001022.4(RPS19):c.52C>T (p.Leu18=)
|
|
|
NM_001022.4(RPS19):c.57A>G (p.Ala19=)
|
rs2123256237
|
|
NM_001022.4(RPS19):c.71+18G>A
|
|
|
NM_001022.4(RPS19):c.72-10T>G
|
rs1176399879
|
|
NM_001022.4(RPS19):c.72-15C>T
|
|
|
NM_001022.4(RPS19):c.75C>T (p.Ser25=)
|
rs370343297
|
|
NM_001022.4(RPS19):c.90C>G (p.Val30=)
|
|
|
NM_001029.5(RPS26):c.120C>A (p.Val40=)
|
|
|
NM_001029.5(RPS26):c.120C>G (p.Val40=)
|
|
|
NM_001029.5(RPS26):c.129C>T (p.Asn43=)
|
|
|
NM_001029.5(RPS26):c.144A>G (p.Ala48=)
|
rs150715896
|
|
NM_001029.5(RPS26):c.144A>T (p.Ala48=)
|
|
|
NM_001029.5(RPS26):c.181+19C>G
|
rs201040758
|
|
NM_001029.5(RPS26):c.181+8G>C
|
|
|
NM_001029.5(RPS26):c.182-16_182-15del
|
|
|
NM_001029.5(RPS26):c.182-20C>T
|
|
|
NM_001029.5(RPS26):c.182-9A>G
|
|
|
NM_001029.5(RPS26):c.183C>G (p.Ala61=)
|
|
|
NM_001029.5(RPS26):c.201G>A (p.Leu67=)
|
rs1371451613
|
|
NM_001029.5(RPS26):c.213A>G (p.Leu71=)
|
|
|
NM_001029.5(RPS26):c.288A>G (p.Thr96=)
|
|
|
NM_001029.5(RPS26):c.3+10C>T
|
|
|
NM_001029.5(RPS26):c.3+12T>C
|
|
|
NM_001029.5(RPS26):c.3+13G>T
|
rs199917474
|
|
NM_001029.5(RPS26):c.3+14C>A
|
|
|
NM_001029.5(RPS26):c.3+14C>G
|
rs763770729
|
|
NM_001029.5(RPS26):c.3+7C>G
|
rs115750993
|
|
NM_001029.5(RPS26):c.3+7C>T
|
rs115750993
|
|
NM_001029.5(RPS26):c.3+9T>A
|
rs545595719
|
|
NM_001029.5(RPS26):c.312+7A>G
|
|
|
NM_001029.5(RPS26):c.313-10dup
|
|
|
NM_001029.5(RPS26):c.313-17_313-14del
|
rs771654280
|
|
NM_001029.5(RPS26):c.313-7C>T
|
|
|
NM_001029.5(RPS26):c.327T>C (p.Arg109=)
|
rs56696262
|
|
NM_001029.5(RPS26):c.333A>T (p.Pro111=)
|
rs1179423823
|
|
NM_001029.5(RPS26):c.336A>G (p.Pro112=)
|
|
|
NM_001029.5(RPS26):c.4-10C>T
|
|
|
NM_001029.5(RPS26):c.4-13C>T
|
rs962158538
|
|
NM_001029.5(RPS26):c.4-4G>T
|
rs2136753773
|
|
NM_001029.5(RPS26):c.4-7G>C
|
rs1288899882
|
|
NM_001029.5(RPS26):c.93C>G (p.Pro31=)
|
|
|
NM_001081.4(CUBN):c.10011A>G (p.Leu3337=)
|
|
|
NM_001081.4(CUBN):c.10032+9T>C
|
|
|
NM_001081.4(CUBN):c.10033-15C>T
|
|
|
NM_001081.4(CUBN):c.10077G>C (p.Ser3359=)
|
rs147563157
|
|
NM_001081.4(CUBN):c.1015+11G>A
|
|
|
NM_001081.4(CUBN):c.1015+17A>T
|
|
|
NM_001081.4(CUBN):c.1015+8C>T
|
|
|
NM_001081.4(CUBN):c.1016-14C>T
|
|
|
NM_001081.4(CUBN):c.1016-18G>A
|
|
|
NM_001081.4(CUBN):c.10266C>T (p.Thr3422=)
|
|
|
NM_001081.4(CUBN):c.1029C>T (p.Asp343=)
|
|
|
NM_001081.4(CUBN):c.10380C>T (p.Asn3460=)
|
|
|
NM_001081.4(CUBN):c.10425A>G (p.Pro3475=)
|
|
|
NM_001081.4(CUBN):c.10458C>T (p.Tyr3486=)
|
|
|
NM_001081.4(CUBN):c.1047C>T (p.Leu349=)
|
|
|
NM_001081.4(CUBN):c.10503A>G (p.Glu3501=)
|
|
|
NM_001081.4(CUBN):c.10524C>T (p.Pro3508=)
|
|
|
NM_001081.4(CUBN):c.10644T>A (p.Leu3548=)
|
|
|
NM_001081.4(CUBN):c.10680T>C (p.Asp3560=)
|
|
|
NM_001081.4(CUBN):c.10695C>G (p.Val3565=)
|
|
|
NM_001081.4(CUBN):c.10728C>T (p.Asn3576=)
|
|
|
NM_001081.4(CUBN):c.10758C>T (p.Cys3586=)
|
|
|
NM_001081.4(CUBN):c.10764+11C>T
|
rs2131299503
|
|
NM_001081.4(CUBN):c.10764+16A>G
|
|
|
NM_001081.4(CUBN):c.10765-10dup
|
|
|
NM_001081.4(CUBN):c.10765-18T>A
|
|
|
NM_001081.4(CUBN):c.1088A>C (p.Asp363Ala)
|
|
|
NM_001081.4(CUBN):c.1088A>G (p.Asp363Gly)
|
rs138044409
|
|
NM_001081.4(CUBN):c.1107T>A (p.Thr369=)
|
|
|
NM_001081.4(CUBN):c.1111+11A>G
|
|
|
NM_001081.4(CUBN):c.1185C>T (p.Leu395=)
|
|
|
NM_001081.4(CUBN):c.122+14T>C
|
|
|
NM_001081.4(CUBN):c.122+7A>G
|
|
|
NM_001081.4(CUBN):c.123-11G>T
|
|
|
NM_001081.4(CUBN):c.123-16C>T
|
rs2281648
|
|
NM_001081.4(CUBN):c.123-4A>G
|
|
|
NM_001081.4(CUBN):c.1230+18C>G
|
|
|
NM_001081.4(CUBN):c.1230+20T>C
|
|
|
NM_001081.4(CUBN):c.1231-10T>C
|
|
|
NM_001081.4(CUBN):c.1231-9T>C
|
|
|
NM_001081.4(CUBN):c.1418-16A>T
|
|
|
NM_001081.4(CUBN):c.1479T>C (p.Gly493=)
|
|
|
NM_001081.4(CUBN):c.1530+14C>A
|
|
|
NM_001081.4(CUBN):c.1662T>A (p.Pro554=)
|
rs2131296039
|
|
NM_001081.4(CUBN):c.1674C>T (p.Leu558=)
|
|
|
NM_001081.4(CUBN):c.1765+12C>A
|
|
|
NM_001081.4(CUBN):c.1766-10C>G
|
rs2131869671
|
|
NM_001081.4(CUBN):c.1766-14C>T
|
|
|
NM_001081.4(CUBN):c.1788T>C (p.Gly596=)
|
|
|
NM_001081.4(CUBN):c.1833C>T (p.Pro611=)
|
rs1215660752
|
|
NM_001081.4(CUBN):c.1887A>G (p.Thr629=)
|
rs2131869453
|
|
NM_001081.4(CUBN):c.192A>G (p.Arg64=)
|
|
|
NM_001081.4(CUBN):c.1947+19A>G
|
|
|
NM_001081.4(CUBN):c.1948-7G>C
|
|
|
NM_001081.4(CUBN):c.1953A>C (p.Arg651=)
|
rs2131865611
|
|
NM_001081.4(CUBN):c.1965G>A (p.Leu655=)
|
|
|
NM_001081.4(CUBN):c.2067G>A (p.Gln689=)
|
|
|
NM_001081.4(CUBN):c.2110+10C>A
|
rs752409034
|
|
NM_001081.4(CUBN):c.2110+17T>C
|
|
|
NM_001081.4(CUBN):c.2111-19G>A
|
|
|
NM_001081.4(CUBN):c.2111-20C>T
|
|
|
NM_001081.4(CUBN):c.2111-5C>T
|
|
|
NM_001081.4(CUBN):c.2139G>A (p.Thr713=)
|
|
|
NM_001081.4(CUBN):c.2145A>G (p.Pro715=)
|
|
|
NM_001081.4(CUBN):c.2157C>G (p.Leu719=)
|
rs2131863775
|
|
NM_001081.4(CUBN):c.2184C>T (p.Phe728=)
|
rs1836051485
|
|
NM_001081.4(CUBN):c.2301+10A>T
|
rs1371114573
|
|
NM_001081.4(CUBN):c.2343C>T (p.Asn781=)
|
|
|
NM_001081.4(CUBN):c.2349C>G (p.Thr783=)
|
|
|
NM_001081.4(CUBN):c.2446+14T>C
|
|
|
NM_001081.4(CUBN):c.2446+14_2446+15del
|
rs752528712
|
|
NM_001081.4(CUBN):c.2446+9A>G
|
|
|
NM_001081.4(CUBN):c.2447-20T>G
|
|
|
NM_001081.4(CUBN):c.2447-9T>C
|
|
|
NM_001081.4(CUBN):c.2451C>T (p.Cys817=)
|
|
|
NM_001081.4(CUBN):c.2490T>A (p.Pro830=)
|
|
|
NM_001081.4(CUBN):c.2493T>C (p.Phe831=)
|
|
|
NM_001081.4(CUBN):c.2502C>T (p.Asn834=)
|
|
|
NM_001081.4(CUBN):c.253-16C>A
|
|
|
NM_001081.4(CUBN):c.2632A>G (p.Ser878Gly)
|
rs563114115
|
|
NM_001081.4(CUBN):c.2637T>C (p.Ser879=)
|
|
|
NM_001081.4(CUBN):c.2673C>T (p.Cys891=)
|
rs386833778
|
|
NM_001081.4(CUBN):c.2733G>T (p.Val911=)
|
|
|
NM_001081.4(CUBN):c.2763C>T (p.Phe921=)
|
|
|
NM_001081.4(CUBN):c.2791+16dup
|
|
|
NM_001081.4(CUBN):c.2791+19T>C
|
|
|
NM_001081.4(CUBN):c.2793A>G (p.Ala931=)
|
|
|
NM_001081.4(CUBN):c.2796T>C (p.Cys932=)
|
|
|
NM_001081.4(CUBN):c.2829T>C (p.Ile943=)
|
|
|
NM_001081.4(CUBN):c.2951A>G (p.Asn984Ser)
|
rs200851536
|
|
NM_001081.4(CUBN):c.2985C>T (p.Thr995=)
|
|
|
NM_001081.4(CUBN):c.3024G>A (p.Ser1008=)
|
|
|
NM_001081.4(CUBN):c.3027C>T (p.Ile1009=)
|
|
|
NM_001081.4(CUBN):c.3058T>C (p.Leu1020=)
|
|
|
NM_001081.4(CUBN):c.3105C>T (p.Phe1035=)
|
rs2131842230
|
|
NM_001081.4(CUBN):c.312A>G (p.Gln104=)
|
|
|
NM_001081.4(CUBN):c.3139+15T>C
|
|
|
NM_001081.4(CUBN):c.3329+12_3329+16del
|
|
|
NM_001081.4(CUBN):c.3329+8C>A
|
|
|
NM_001081.4(CUBN):c.3447C>T (p.Asp1149=)
|
|
|
NM_001081.4(CUBN):c.3477T>C (p.Asp1159=)
|
rs2131820566
|
|
NM_001081.4(CUBN):c.348+18G>A
|
|
|
NM_001081.4(CUBN):c.349-13T>G
|
|
|
NM_001081.4(CUBN):c.3490+16C>G
|
|
|
NM_001081.4(CUBN):c.3531A>T (p.Ile1177=)
|
|
|
NM_001081.4(CUBN):c.3570A>G (p.Glu1190=)
|
|
|
NM_001081.4(CUBN):c.3603C>T (p.Ser1201=)
|
|
|
NM_001081.4(CUBN):c.3604G>A (p.Ala1202Thr)
|
rs141740096
|
|
NM_001081.4(CUBN):c.3672+17C>T
|
|
|
NM_001081.4(CUBN):c.3783A>G (p.Thr1261=)
|
|
|
NM_001081.4(CUBN):c.3823C>A (p.Arg1275=)
|
|
|
NM_001081.4(CUBN):c.3830-15C>T
|
|
|
NM_001081.4(CUBN):c.387+11dup
|
|
|
NM_001081.4(CUBN):c.387+16C>T
|
rs766616600
|
|
NM_001081.4(CUBN):c.3927C>A (p.Thr1309=)
|
|
|
NM_001081.4(CUBN):c.4104G>T (p.Val1368=)
|
rs1480495431
|
|
NM_001081.4(CUBN):c.4168+17T>A
|
|
|
NM_001081.4(CUBN):c.4169-13del
|
|
|
NM_001081.4(CUBN):c.4169-15T>C
|
|
|
NM_001081.4(CUBN):c.4169-17C>A
|
|
|
NM_001081.4(CUBN):c.4169-18A>G
|
|
|
NM_001081.4(CUBN):c.4269G>A (p.Thr1423=)
|
|
|
NM_001081.4(CUBN):c.4302T>C (p.His1434=)
|
rs2131715844
|
|
NM_001081.4(CUBN):c.4308C>T (p.Phe1436=)
|
|
|
NM_001081.4(CUBN):c.4350+5G>A
|
rs200324164
|
|
NM_001081.4(CUBN):c.4350+8G>A
|
|
|
NM_001081.4(CUBN):c.4362C>G (p.Gly1454=)
|
|
|
NM_001081.4(CUBN):c.4461A>T (p.Arg1487=)
|
|
|
NM_001081.4(CUBN):c.4526-10C>T
|
|
|
NM_001081.4(CUBN):c.4526-9C>A
|
rs752803274
|
|
NM_001081.4(CUBN):c.4668T>C (p.Asp1556=)
|
|
|
NM_001081.4(CUBN):c.4806G>A (p.Gln1602=)
|
|
|
NM_001081.4(CUBN):c.4815T>C (p.Pro1605=)
|
rs1588515934
|
|
NM_001081.4(CUBN):c.4855+20T>C
|
|
|
NM_001081.4(CUBN):c.4856-13G>C
|
|
|
NM_001081.4(CUBN):c.4856-16T>C
|
rs2131629888
|
|
NM_001081.4(CUBN):c.4869C>T (p.His1623=)
|
|
|
NM_001081.4(CUBN):c.489+14T>C
|
rs886046882
|
|
NM_001081.4(CUBN):c.490-8G>A
|
|
|
NM_001081.4(CUBN):c.4970-16C>T
|
|
|
NM_001081.4(CUBN):c.5022G>A (p.Thr1674=)
|
rs528059511
|
|
NM_001081.4(CUBN):c.5070G>A (p.Ala1690=)
|
|
|
NM_001081.4(CUBN):c.5080+11G>A
|
|
|
NM_001081.4(CUBN):c.5080+9_5080+19del
|
|
|
NM_001081.4(CUBN):c.5307C>T (p.Val1769=)
|
|
|
NM_001081.4(CUBN):c.5342+20G>A
|
|
|
NM_001081.4(CUBN):c.5343-10C>T
|
|
|
NM_001081.4(CUBN):c.5343-11C>T
|
rs777975604
|
|
NM_001081.4(CUBN):c.5343-7dup
|
rs754346653
|
|
NM_001081.4(CUBN):c.5412G>A (p.Thr1804=)
|
|
|
NM_001081.4(CUBN):c.5733+15G>A
|
|
|
NM_001081.4(CUBN):c.5733+9C>T
|
|
|
NM_001081.4(CUBN):c.5871T>C (p.Leu1957=)
|
|
|
NM_001081.4(CUBN):c.5890G>A (p.Asp1964Asn)
|
|
|
NM_001081.4(CUBN):c.5904T>A (p.Gly1968=)
|
|
|
NM_001081.4(CUBN):c.5927-14T>C
|
|
|
NM_001081.4(CUBN):c.5927-19G>A
|
|
|
NM_001081.4(CUBN):c.5931T>C (p.Ala1977=)
|
|
|
NM_001081.4(CUBN):c.594-16C>T
|
|
|
NM_001081.4(CUBN):c.594-18C>T
|
rs1836875187
|
|
NM_001081.4(CUBN):c.5973C>T (p.Leu1991=)
|
|
|
NM_001081.4(CUBN):c.5979C>T (p.Ser1993=)
|
rs2131594919
|
|
NM_001081.4(CUBN):c.5982G>C (p.Pro1994=)
|
|
|
NM_001081.4(CUBN):c.5985C>A (p.Gly1995=)
|
|
|
NM_001081.4(CUBN):c.6093G>A (p.Thr2031=)
|
rs141470763
|
|
NM_001081.4(CUBN):c.6114G>C (p.Val2038=)
|
|
|
NM_001081.4(CUBN):c.6118C>A (p.Arg2040=)
|
rs770636895
|
|
NM_001081.4(CUBN):c.6125-4G>A
|
|
|
NM_001081.4(CUBN):c.615G>T (p.Thr205=)
|
|
|
NM_001081.4(CUBN):c.6201G>A (p.Glu2067=)
|
|
|
NM_001081.4(CUBN):c.6261C>T (p.Ser2087=)
|
|
|
NM_001081.4(CUBN):c.6271+12A>G
|
|
|
NM_001081.4(CUBN):c.6272-8G>C
|
|
|
NM_001081.4(CUBN):c.6309C>T (p.Ile2103=)
|
|
|
NM_001081.4(CUBN):c.6318C>T (p.Pro2106=)
|
|
|
NM_001081.4(CUBN):c.6363C>T (p.His2121=)
|
|
|
NM_001081.4(CUBN):c.645C>T (p.Asp215=)
|
|
|
NM_001081.4(CUBN):c.6462+7C>T
|
|
|
NM_001081.4(CUBN):c.6463-4C>G
|
rs2131581949
|
|
NM_001081.4(CUBN):c.6490C>T (p.Pro2164Ser)
|
|
|
NM_001081.4(CUBN):c.6504C>A (p.Pro2168=)
|
|
|
NM_001081.4(CUBN):c.6630T>C (p.Tyr2210=)
|
rs2131479100
|
|
NM_001081.4(CUBN):c.6646+18G>T
|
|
|
NM_001081.4(CUBN):c.6647-19T>C
|
|
|
NM_001081.4(CUBN):c.6696G>A (p.Val2232=)
|
|
|
NM_001081.4(CUBN):c.66T>C (p.Asn22=)
|
|
|
NM_001081.4(CUBN):c.6864G>A (p.Ser2288=)
|
|
|
NM_001081.4(CUBN):c.6906C>A (p.Pro2302=)
|
|
|
NM_001081.4(CUBN):c.69C>T (p.Gly23=)
|
|
|
NM_001081.4(CUBN):c.7000+7A>T
|
|
|
NM_001081.4(CUBN):c.7001-19T>C
|
|
|
NM_001081.4(CUBN):c.7005G>A (p.Gln2335=)
|
|
|
NM_001081.4(CUBN):c.7179C>T (p.Asp2393=)
|
|
|
NM_001081.4(CUBN):c.7182C>T (p.Phe2394=)
|
|
|
NM_001081.4(CUBN):c.720+20G>A
|
|
|
NM_001081.4(CUBN):c.720+8C>T
|
|
|
NM_001081.4(CUBN):c.7346T>G (p.Met2449Arg)
|
rs41301097
|
|
NM_001081.4(CUBN):c.7352-6C>T
|
|
|
NM_001081.4(CUBN):c.7386A>G (p.Thr2462=)
|
|
|
NM_001081.4(CUBN):c.7509G>C (p.Pro2503=)
|
rs201001705
|
|
NM_001081.4(CUBN):c.7530G>A (p.Val2510=)
|
|
|
NM_001081.4(CUBN):c.7533+16C>T
|
|
|
NM_001081.4(CUBN):c.7557C>T (p.Asn2519=)
|
rs1588639145
|
|
NM_001081.4(CUBN):c.7593T>C (p.Asn2531=)
|
|
|
NM_001081.4(CUBN):c.7705+9G>A
|
|
|
NM_001081.4(CUBN):c.7716G>A (p.Gly2572=)
|
|
|
NM_001081.4(CUBN):c.7725A>C (p.Pro2575=)
|
|
|
NM_001081.4(CUBN):c.783G>A (p.Thr261=)
|
rs770878354
|
|
NM_001081.4(CUBN):c.783G>T (p.Thr261=)
|
|
|
NM_001081.4(CUBN):c.7875C>T (p.His2625=)
|
|
|
NM_001081.4(CUBN):c.7884T>C (p.Cys2628=)
|
|
|
NM_001081.4(CUBN):c.7912+14A>G
|
|
|
NM_001081.4(CUBN):c.7929C>T (p.Pro2643=)
|
|
|
NM_001081.4(CUBN):c.7944T>C (p.Leu2648=)
|
|
|
NM_001081.4(CUBN):c.8062+15T>C
|
|
|
NM_001081.4(CUBN):c.8062+8T>C
|
|
|
NM_001081.4(CUBN):c.8185-10T>C
|
|
|
NM_001081.4(CUBN):c.8283A>G (p.Gly2761=)
|
|
|
NM_001081.4(CUBN):c.828A>T (p.Thr276=)
|
|
|
NM_001081.4(CUBN):c.8410+16G>T
|
|
|
NM_001081.4(CUBN):c.8527T>C (p.Leu2843=)
|
|
|
NM_001081.4(CUBN):c.8535C>A (p.Ile2845=)
|
|
|
NM_001081.4(CUBN):c.8547C>T (p.Asn2849=)
|
|
|
NM_001081.4(CUBN):c.8592C>T (p.Phe2864=)
|
|
|
NM_001081.4(CUBN):c.8598+18T>C
|
rs1841276791
|
|
NM_001081.4(CUBN):c.8655C>T (p.Asn2885=)
|
|
|
NM_001081.4(CUBN):c.8691A>T (p.Thr2897=)
|
|
|
NM_001081.4(CUBN):c.8715G>A (p.Gln2905=)
|
|
|
NM_001081.4(CUBN):c.873C>T (p.Ala291=)
|
|
|
NM_001081.4(CUBN):c.8742G>A (p.Ala2914=)
|
|
|
NM_001081.4(CUBN):c.8756-18C>A
|
|
|
NM_001081.4(CUBN):c.87G>A (p.Glu29=)
|
|
|
NM_001081.4(CUBN):c.8811A>G (p.Pro2937=)
|
|
|
NM_001081.4(CUBN):c.884-8T>C
|
|
|
NM_001081.4(CUBN):c.8906-13dup
|
|
|
NM_001081.4(CUBN):c.8906-9C>T
|
|
|
NM_001081.4(CUBN):c.8934C>G (p.Val2978=)
|
|
|
NM_001081.4(CUBN):c.8937C>T (p.Asn2979=)
|
|
|
NM_001081.4(CUBN):c.9054C>T (p.Tyr3018=)
|
|
|
NM_001081.4(CUBN):c.9165C>T (p.Tyr3055=)
|
|
|
NM_001081.4(CUBN):c.9207C>T (p.Thr3069=)
|
rs117936668
|
|
NM_001081.4(CUBN):c.9216C>T (p.Asp3072=)
|
|
|
NM_001081.4(CUBN):c.9229G>A (p.Glu3077Lys)
|
|
|
NM_001081.4(CUBN):c.9237-6T>A
|
|
|
NM_001081.4(CUBN):c.9255G>A (p.Val3085=)
|
|
|
NM_001081.4(CUBN):c.9324T>A (p.Leu3108=)
|
|
|
NM_001081.4(CUBN):c.9339C>T (p.Cys3113=)
|
|
|
NM_001081.4(CUBN):c.9408A>G (p.Ser3136=)
|
rs2131367704
|
|
NM_001081.4(CUBN):c.9454+19T>G
|
|
|
NM_001081.4(CUBN):c.9456G>A (p.Gly3152=)
|
|
|
NM_001081.4(CUBN):c.9600C>T (p.Thr3200=)
|
|
|
NM_001081.4(CUBN):c.9663+13T>C
|
|
|
NM_001081.4(CUBN):c.9663+7C>T
|
|
|
NM_001081.4(CUBN):c.9664-16T>G
|
rs2131320788
|
|
NM_001081.4(CUBN):c.9664-20T>C
|
|
|
NM_001081.4(CUBN):c.9664-8del
|
|
|
NM_001081.4(CUBN):c.9666A>G (p.Leu3222=)
|
|
|
NM_001081.4(CUBN):c.9690G>A (p.Ala3230=)
|
|
|
NM_001081.4(CUBN):c.9694T>C (p.Leu3232=)
|
|
|
NM_001081.4(CUBN):c.9786A>G (p.Leu3262=)
|
|
|
NM_001081.4(CUBN):c.9810A>G (p.Thr3270=)
|
|
|
NM_001081.4(CUBN):c.981A>G (p.Thr327=)
|
|
|
NM_001081.4(CUBN):c.9826+13A>G
|
|
|
NM_001081.4(CUBN):c.9827-20G>A
|
|
|
NM_001081.4(CUBN):c.9843A>C (p.Thr3281=)
|
|
|
NM_001081.4(CUBN):c.9855T>C (p.Thr3285=)
|
|
|
NM_001081.4(CUBN):c.9876A>G (p.Ser3292=)
|
|
|
NM_001081.4(CUBN):c.9903C>T (p.Val3301=)
|
|
|
NM_001081.4(CUBN):c.9942G>A (p.Pro3314=)
|
rs375963302
|
|
NM_001081.4(CUBN):c.9999G>A (p.Thr3333=)
|
|
|
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_001243177.4(ALDOA):c.1008C>T (p.Ile336=)
|
|
|
NM_001243177.4(ALDOA):c.1029G>A (p.Lys343=)
|
|
|
NM_001243177.4(ALDOA):c.1047C>T (p.Pro349=)
|
|
|
NM_001243177.4(ALDOA):c.1080G>A (p.Leu360=)
|
|
|
NM_001243177.4(ALDOA):c.1080G>T (p.Leu360=)
|
|
|
NM_001243177.4(ALDOA):c.1158C>T (p.Ala386=)
|
|
|
NM_001243177.4(ALDOA):c.1161+9A>T
|
|
|
NM_001243177.4(ALDOA):c.1161+9_1161+19dup
|
|
|
NM_001243177.4(ALDOA):c.1162-11T>C
|
|
|
NM_001243177.4(ALDOA):c.1162-14C>A
|
|
|
NM_001243177.4(ALDOA):c.1162-14C>T
|
|
|
NM_001243177.4(ALDOA):c.1162-16C>T
|
|
|
NM_001243177.4(ALDOA):c.1162-17C>T
|
|
|
NM_001243177.4(ALDOA):c.1162-18A>T
|
|
|
NM_001243177.4(ALDOA):c.1224C>T (p.Ser408=)
|
|
|
NM_001243177.4(ALDOA):c.1236C>T (p.Phe412=)
|
|
|
NM_001243177.4(ALDOA):c.1248C>T (p.His416=)
|
|
|
NM_001243177.4(ALDOA):c.1251C>T (p.Ala417=)
|
|
|
NM_001243177.4(ALDOA):c.184C>T (p.Leu62=)
|
|
|
NM_001243177.4(ALDOA):c.189C>T (p.Thr63=)
|
|
|
NM_001243177.4(ALDOA):c.275-11G>C
|
|
|
NM_001243177.4(ALDOA):c.275-15A>G
|
|
|
NM_001243177.4(ALDOA):c.275-3del
|
|
|
NM_001243177.4(ALDOA):c.288G>A (p.Lys96=)
|
|
|
NM_001243177.4(ALDOA):c.318C>T (p.Thr106=)
|
|
|
NM_001243177.4(ALDOA):c.364G>A (p.Asp122Asn)
|
|
|
NM_001243177.4(ALDOA):c.396C>T (p.Ile132=)
|
|
|
NM_001243177.4(ALDOA):c.408G>A (p.Glu136=)
|
|
|
NM_001243177.4(ALDOA):c.423G>A (p.Lys141=)
|
|
|
NM_001243177.4(ALDOA):c.447C>T (p.Pro149=)
|
|
|
NM_001243177.4(ALDOA):c.462C>T (p.Ser154=)
|
|
|
NM_001243177.4(ALDOA):c.486+10G>A
|
|
|
NM_001243177.4(ALDOA):c.486+16C>T
|
|
|
NM_001243177.4(ALDOA):c.486+17C>T
|
|
|
NM_001243177.4(ALDOA):c.486+18G>A
|
|
|
NM_001243177.4(ALDOA):c.486+19G>A
|
|
|
NM_001243177.4(ALDOA):c.486+9A>C
|
|
|
NM_001243177.4(ALDOA):c.487-14C>T
|
|
|
NM_001243177.4(ALDOA):c.487-19G>A
|
|
|
NM_001243177.4(ALDOA):c.525C>T (p.Gly175=)
|
|
|
NM_001243177.4(ALDOA):c.541+8C>T
|
|
|
NM_001243177.4(ALDOA):c.552G>C (p.Gly184=)
|
|
|
NM_001243177.4(ALDOA):c.576C>T (p.Tyr192=)
|
|
|
NM_001243177.4(ALDOA):c.582G>A (p.Lys194=)
|
|
|
NM_001243177.4(ALDOA):c.588A>C (p.Gly196=)
|
|
|
NM_001243177.4(ALDOA):c.630A>G (p.Glu210=)
|
|
|
NM_001243177.4(ALDOA):c.636C>T (p.Thr212=)
|
|
|
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=)
|
rs1596813728
|
|
NM_001243177.4(ALDOA):c.702+12G>A
|
|
|
NM_001243177.4(ALDOA):c.702+17T>C
|
|
|
NM_001243177.4(ALDOA):c.702+20A>G
|
|
|
NM_001243177.4(ALDOA):c.702+7C>T
|
|
|
NM_001243177.4(ALDOA):c.702+8T>C
|
|
|
NM_001243177.4(ALDOA):c.703-10C>T
|
|
|
NM_001243177.4(ALDOA):c.703-12C>T
|
|
|
NM_001243177.4(ALDOA):c.703-7C>T
|
|
|
NM_001243177.4(ALDOA):c.703-9G>A
|
|
|
NM_001243177.4(ALDOA):c.729T>C (p.Pro243=)
|
|
|
NM_001243177.4(ALDOA):c.780C>T (p.Thr260=)
|
|
|
NM_001243177.4(ALDOA):c.786+11A>G
|
|
|
NM_001243177.4(ALDOA):c.787-12G>C
|
|
|
NM_001243177.4(ALDOA):c.787-17C>T
|
|
|
NM_001243177.4(ALDOA):c.787-4C>T
|
|
|
NM_001243177.4(ALDOA):c.804C>T (p.Tyr268=)
|
|
|
NM_001243177.4(ALDOA):c.828C>T (p.Ile276=)
|
|
|
NM_001243177.4(ALDOA):c.867C>T (p.Thr289=)
|
|
|
NM_001243177.4(ALDOA):c.900T>C (p.His300=)
|
|
|
NM_001243177.4(ALDOA):c.912C>T (p.Ala304=)
|
|
|
NM_001243177.4(ALDOA):c.918G>A (p.Ala306=)
|
|
|
NM_001243177.4(ALDOA):c.951C>A (p.Pro317=)
|
|
|
NM_001243177.4(ALDOA):c.961+15C>T
|
|
|
NM_001243177.4(ALDOA):c.962-7T>G
|
|
|
NM_001243177.4(ALDOA):c.962-8C>T
|
|
|
NM_001243177.4(ALDOA):c.963G>C (p.Gly321=)
|
|
|
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
|
|
|
NM_001360016.2(G6PD):c.1002C>T (p.Thr334=)
|
|
|
NM_001360016.2(G6PD):c.1020C>T (p.Val340=)
|
|
|
NM_001360016.2(G6PD):c.1051+11C>T
|
rs1258960910
|
|
NM_001360016.2(G6PD):c.1052-16C>A
|
|
|
NM_001360016.2(G6PD):c.1053G>A (p.Gly351=)
|
rs782533137
|
|
NM_001360016.2(G6PD):c.1053G>T (p.Gly351=)
|
|
|
NM_001360016.2(G6PD):c.1056G>A (p.Val352=)
|
|
|
NM_001360016.2(G6PD):c.1098G>A (p.Lys366=)
|
rs2070354836
|
|
NM_001360016.2(G6PD):c.1108A>C (p.Arg370=)
|
|
|
NM_001360016.2(G6PD):c.1134C>T (p.Gly378=)
|
|
|
NM_001360016.2(G6PD):c.1182G>A (p.Val394=)
|
rs2148328863
|
|
NM_001360016.2(G6PD):c.1197C>T (p.Ala399=)
|
|
|
NM_001360016.2(G6PD):c.120+13C>G
|
|
|
NM_001360016.2(G6PD):c.120+14A>T
|
|
|
NM_001360016.2(G6PD):c.120+7A>G
|
rs369904290
|
|
NM_001360016.2(G6PD):c.120+9C>T
|
rs886044853
|
|
NM_001360016.2(G6PD):c.1203C>T (p.Tyr401=)
|
rs2148328821
|
|
NM_001360016.2(G6PD):c.1206C>G (p.Thr402=)
|
|
|
NM_001360016.2(G6PD):c.1209G>A (p.Lys403=)
|
rs1355739430
|
|
NM_001360016.2(G6PD):c.121-19C>A
|
|
|
NM_001360016.2(G6PD):c.121-4A>C
|
|
|
NM_001360016.2(G6PD):c.121-5C>T
|
|
|
NM_001360016.2(G6PD):c.1218C>T (p.Thr406=)
|
|
|
NM_001360016.2(G6PD):c.1227G>A (p.Pro409=)
|
rs781879876
|
|
NM_001360016.2(G6PD):c.1260G>A (p.Leu420=)
|
rs2148328776
|
|
NM_001360016.2(G6PD):c.1266G>C (p.Leu422=)
|
rs2148328772
|
|
NM_001360016.2(G6PD):c.1269C>T (p.Thr423=)
|
rs2148328766
|
|
NM_001360016.2(G6PD):c.1287+7T>C
|
|
|
NM_001360016.2(G6PD):c.1288-11C>T
|
|
|
NM_001360016.2(G6PD):c.1288-12T>A
|
rs2148328659
|
|
NM_001360016.2(G6PD):c.1288-13C>G
|
|
|
NM_001360016.2(G6PD):c.1288-14T>A
|
|
|
NM_001360016.2(G6PD):c.1288-15C>T
|
|
|
NM_001360016.2(G6PD):c.1288-16A>C
|
|
|
NM_001360016.2(G6PD):c.1288-17C>G
|
|
|
NM_001360016.2(G6PD):c.1288-4A>G
|
|
|
NM_001360016.2(G6PD):c.1288-5C>T
|
|
|
NM_001360016.2(G6PD):c.1288-8C>A
|
rs2148328644
|
|
NM_001360016.2(G6PD):c.1288-8C>T
|
rs2148328644
|
|
NM_001360016.2(G6PD):c.1293G>A (p.Val431=)
|
|
|
NM_001360016.2(G6PD):c.1305C>T (p.Asp435=)
|
|
|
NM_001360016.2(G6PD):c.1323C>T (p.Ile441=)
|
|
|
NM_001360016.2(G6PD):c.1324C>T (p.Leu442=)
|
|
|
NM_001360016.2(G6PD):c.1326G>A (p.Leu442=)
|
|
|
NM_001360016.2(G6PD):c.132C>G (p.Ala44=)
|
|
|
NM_001360016.2(G6PD):c.1344C>T (p.Ser448=)
|
rs2148328562
|
|
NM_001360016.2(G6PD):c.1364+10A>G
|
|
|
NM_001360016.2(G6PD):c.1364+15C>T
|
rs2148328536
|
|
NM_001360016.2(G6PD):c.1364+16C>T
|
|
|
NM_001360016.2(G6PD):c.1364+17G>A
|
|
|
NM_001360016.2(G6PD):c.1364+18G>A
|
|
|
NM_001360016.2(G6PD):c.1365-19C>T
|
|
|
NM_001360016.2(G6PD):c.1365-5C>T
|
rs886044905
|
|
NM_001360016.2(G6PD):c.1365-8C>A
|
|
|
NM_001360016.2(G6PD):c.1365-8C>T
|
|
|
NM_001360016.2(G6PD):c.1371G>A (p.Glu457=)
|
|
|
NM_001360016.2(G6PD):c.1402C>T (p.Leu468=)
|
|
|
NM_001360016.2(G6PD):c.1422G>C (p.Leu474=)
|
rs2148328378
|
|
NM_001360016.2(G6PD):c.1446T>C (p.Tyr482=)
|
|
|
NM_001360016.2(G6PD):c.1457+10G>A
|
rs2148328331
|
|
NM_001360016.2(G6PD):c.1457+11G>C
|
|
|
NM_001360016.2(G6PD):c.1457+11G>T
|
|
|
NM_001360016.2(G6PD):c.1457+12G>A
|
|
|
NM_001360016.2(G6PD):c.1457+14G>T
|
|
|
NM_001360016.2(G6PD):c.1457+15G>A
|
|
|
NM_001360016.2(G6PD):c.1457+17G>A
|
|
|
NM_001360016.2(G6PD):c.1457+9A>T
|
|
|
NM_001360016.2(G6PD):c.1458-13C>T
|
rs371772243
|
|
NM_001360016.2(G6PD):c.1458-7T>A
|
|
|
NM_001360016.2(G6PD):c.1458-7T>C
|
|
|
NM_001360016.2(G6PD):c.1467C>A (p.Pro489=)
|
rs2148328181
|
|
NM_001360016.2(G6PD):c.1470G>C (p.Thr490=)
|
|
|
NM_001360016.2(G6PD):c.1491G>A (p.Lys497=)
|
|
|
NM_001360016.2(G6PD):c.1536C>G (p.Pro512=)
|
|
|
NM_001360016.2(G6PD):c.1536C>T (p.Pro512=)
|
|
|
NM_001360016.2(G6PD):c.1545C>T (p.Leu515=)
|
|
|
NM_001360016.2(G6PD):c.158+16C>T
|
|
|
NM_001360016.2(G6PD):c.158+17A>G
|
|
|
NM_001360016.2(G6PD):c.159-11C>T
|
|
|
NM_001360016.2(G6PD):c.159-16T>C
|
|
|
NM_001360016.2(G6PD):c.159-17C>T
|
|
|
NM_001360016.2(G6PD):c.159-8G>T
|
rs2148331979
|
|
NM_001360016.2(G6PD):c.165G>A (p.Leu55=)
|
|
|
NM_001360016.2(G6PD):c.168C>T (p.Phe56=)
|
rs2148331964
|
|
NM_001360016.2(G6PD):c.210T>C (p.Tyr70=)
|
|
|
NM_001360016.2(G6PD):c.21G>A (p.Leu7=)
|
|
|
NM_001360016.2(G6PD):c.240C>A (p.Ile80=)
|
|
|
NM_001360016.2(G6PD):c.268-12C>T
|
|
|
NM_001360016.2(G6PD):c.268-13C>T
|
|
|
NM_001360016.2(G6PD):c.268-24TGTC[2]
|
|
|
NM_001360016.2(G6PD):c.268-6T>C
|
|
|
NM_001360016.2(G6PD):c.270C>T (p.Ala90=)
|
|
|
NM_001360016.2(G6PD):c.273C>G (p.Thr91=)
|
|
|
NM_001360016.2(G6PD):c.297G>A (p.Glu99=)
|
rs2070395767
|
|
NM_001360016.2(G6PD):c.30C>A (p.Thr10=)
|
rs982197712
|
|
NM_001360016.2(G6PD):c.318C>G (p.Ser106=)
|
|
|
NM_001360016.2(G6PD):c.318C>T (p.Ser106=)
|
rs2148331419
|
|
NM_001360016.2(G6PD):c.321T>C (p.Tyr107=)
|
rs2148331412
|
|
NM_001360016.2(G6PD):c.345A>G (p.Ala115=)
|
|
|
NM_001360016.2(G6PD):c.348C>T (p.Ala116=)
|
|
|
NM_001360016.2(G6PD):c.359G>A (p.Arg120His)
|
rs782820967
|
|
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)
|
rs1050829
|
|
NM_001360016.2(G6PD):c.384C>T (p.Leu128=)
|
rs2148331335
|
|
NM_001360016.2(G6PD):c.414C>T (p.Phe138=)
|
rs2148331303
|
|
NM_001360016.2(G6PD):c.418C>T (p.Leu140=)
|
|
|
NM_001360016.2(G6PD):c.423C>G (p.Ala141=)
|
rs782627357
|
|
NM_001360016.2(G6PD):c.465C>T (p.His155=)
|
|
|
NM_001360016.2(G6PD):c.485+12C>T
|
|
|
NM_001360016.2(G6PD):c.485+14T>C
|
|
|
NM_001360016.2(G6PD):c.485+15T>A
|
|
|
NM_001360016.2(G6PD):c.485+17C>T
|
|
|
NM_001360016.2(G6PD):c.486-6C>T
|
|
|
NM_001360016.2(G6PD):c.501C>T (p.Ile167=)
|
|
|
NM_001360016.2(G6PD):c.504C>T (p.Ile168=)
|
|
|
NM_001360016.2(G6PD):c.510G>A (p.Glu170=)
|
|
|
NM_001360016.2(G6PD):c.546G>C (p.Arg182=)
|
|
|
NM_001360016.2(G6PD):c.558C>T (p.His186=)
|
|
|
NM_001360016.2(G6PD):c.582C>T (p.Asp194=)
|
|
|
NM_001360016.2(G6PD):c.585G>A (p.Gln195=)
|
|
|
NM_001360016.2(G6PD):c.606C>T (p.Tyr202=)
|
|
|
NM_001360016.2(G6PD):c.60T>C (p.Leu20=)
|
|
|
NM_001360016.2(G6PD):c.633C>G (p.Leu211=)
|
rs781866029
|
|
NM_001360016.2(G6PD):c.644+10A>G
|
|
|
NM_001360016.2(G6PD):c.644+19C>T
|
|
|
NM_001360016.2(G6PD):c.644+7C>T
|
|
|
NM_001360016.2(G6PD):c.644+9A>C
|
rs1279844136
|
|
NM_001360016.2(G6PD):c.645-10C>G
|
|
|
NM_001360016.2(G6PD):c.645-14G>T
|
|
|
NM_001360016.2(G6PD):c.645-9T>C
|
rs2148330346
|
|
NM_001360016.2(G6PD):c.672C>T (p.Ile224=)
|
rs2148330315
|
|
NM_001360016.2(G6PD):c.687C>T (p.Asn229=)
|
|
|
NM_001360016.2(G6PD):c.693C>T (p.Ala231=)
|
|
|
NM_001360016.2(G6PD):c.720C>T (p.Pro240=)
|
rs2148330281
|
|
NM_001360016.2(G6PD):c.753T>C (p.Asp251=)
|
|
|
NM_001360016.2(G6PD):c.770+12T>C
|
|
|
NM_001360016.2(G6PD):c.770+8C>T
|
|
|
NM_001360016.2(G6PD):c.771-13C>A
|
|
|
NM_001360016.2(G6PD):c.771-13C>T
|
|
|
NM_001360016.2(G6PD):c.771-20C>G
|
|
|
NM_001360016.2(G6PD):c.786C>T (p.Asn262=)
|
rs1179691681
|
|
NM_001360016.2(G6PD):c.78C>T (p.Phe26=)
|
rs1487624588
|
|
NM_001360016.2(G6PD):c.804G>A (p.Leu268=)
|
|
|
NM_001360016.2(G6PD):c.828C>T (p.Pro276=)
|
|
|
NM_001360016.2(G6PD):c.840C>T (p.Asn280=)
|
|
|
NM_001360016.2(G6PD):c.849C>T (p.Asp283=)
|
|
|
NM_001360016.2(G6PD):c.864+10G>T
|
rs2070368182
|
|
NM_001360016.2(G6PD):c.864+13C>T
|
|
|
NM_001360016.2(G6PD):c.864+16C>G
|
|
|
NM_001360016.2(G6PD):c.864+17A>G
|
|
|
NM_001360016.2(G6PD):c.864+7G>A
|
rs782256985
|
|
NM_001360016.2(G6PD):c.864+8dup
|
rs782714017
|
|
NM_001360016.2(G6PD):c.865-18C>T
|
|
|
NM_001360016.2(G6PD):c.867C>T (p.Val289=)
|
|
|
NM_001360016.2(G6PD):c.87G>A (p.Ser29=)
|
|
|
NM_001360016.2(G6PD):c.894G>T (p.Val298=)
|
|
|
NM_001360016.2(G6PD):c.909G>A (p.Val303=)
|
|
|
NM_001360016.2(G6PD):c.915G>A (p.Leu305=)
|
|
|
NM_001360016.2(G6PD):c.924C>T (p.Tyr308=)
|
|
|
NM_001360016.2(G6PD):c.939T>C (p.Asp313=)
|
|
|
NM_001360016.2(G6PD):c.969G>A (p.Leu323=)
|
rs2148329332
|
|
NM_002049.4(GATA1):c.1017G>C (p.Gly339=)
|
|
|
NM_002049.4(GATA1):c.1023C>T (p.Ser341=)
|
|
|
NM_002049.4(GATA1):c.1056C>T (p.Gly352=)
|
|
|
NM_002049.4(GATA1):c.1059G>C (p.Leu353=)
|
rs2147307659
|
|
NM_002049.4(GATA1):c.1068C>A (p.Gly356=)
|
|
|
NM_002049.4(GATA1):c.1086T>C (p.His362=)
|
|
|
NM_002049.4(GATA1):c.1146C>T (p.Phe382=)
|
|
|
NM_002049.4(GATA1):c.1152A>C (p.Gly384=)
|
|
|
NM_002049.4(GATA1):c.1159C>T (p.Leu387=)
|
|
|
NM_002049.4(GATA1):c.1179C>T (p.Ser393=)
|
rs781868016
|
|
NM_002049.4(GATA1):c.1185C>G (p.Pro395=)
|
|
|
NM_002049.4(GATA1):c.1188A>C (p.Thr396=)
|
rs2147307813
|
|
NM_002049.4(GATA1):c.1215T>A (p.Thr405=)
|
|
|
NM_002049.4(GATA1):c.147C>A (p.Ala49=)
|
rs2147305674
|
|
NM_002049.4(GATA1):c.156A>C (p.Thr52=)
|
|
|
NM_002049.4(GATA1):c.207C>T (p.Tyr69=)
|
rs1602219215
|
|
NM_002049.4(GATA1):c.210A>G (p.Arg70=)
|
|
|
NM_002049.4(GATA1):c.220+13A>C
|
rs2147305801
|
|
NM_002049.4(GATA1):c.234C>T (p.Tyr78=)
|
|
|
NM_002049.4(GATA1):c.242T>C (p.Leu81Pro)
|
rs1557020166
|
|
NM_002049.4(GATA1):c.258G>T (p.Gly86=)
|
|
|
NM_002049.4(GATA1):c.276A>G (p.Pro92=)
|
|
|
NM_002049.4(GATA1):c.279T>C (p.Tyr93=)
|
|
|
NM_002049.4(GATA1):c.291C>A (p.Ala97=)
|
|
|
NM_002049.4(GATA1):c.294C>T (p.Tyr98=)
|
|
|
NM_002049.4(GATA1):c.327G>A (p.Val109=)
|
|
|
NM_002049.4(GATA1):c.338G>T (p.Arg113Leu)
|
rs782208453
|
|
NM_002049.4(GATA1):c.345C>T (p.Asp115=)
|
|
|
NM_002049.4(GATA1):c.364G>A (p.Glu122Lys)
|
|
|
NM_002049.4(GATA1):c.372G>A (p.Leu124=)
|
|
|
NM_002049.4(GATA1):c.39G>A (p.Glu13=)
|
rs2147305570
|
|
NM_002049.4(GATA1):c.48C>A (p.Pro16=)
|
|
|
NM_002049.4(GATA1):c.507C>T (p.Ser169=)
|
|
|
NM_002049.4(GATA1):c.528C>T (p.Thr176=)
|
|
|
NM_002049.4(GATA1):c.561T>C (p.Ser187=)
|
rs2147306665
|
|
NM_002049.4(GATA1):c.579T>C (p.Thr193=)
|
|
|
NM_002049.4(GATA1):c.598+14A>T
|
|
|
NM_002049.4(GATA1):c.684C>T (p.Cys228=)
|
|
|
NM_002049.4(GATA1):c.711G>A (p.Gln237=)
|
rs1204529779
|
|
NM_002049.4(GATA1):c.729G>A (p.Arg243=)
|
|
|
NM_002049.4(GATA1):c.831C>T (p.Pro277=)
|
|
|
NM_002049.4(GATA1):c.855C>T (p.Tyr285=)
|
|
|
NM_002049.4(GATA1):c.871-11C>T
|
|
|
NM_002049.4(GATA1):c.879G>A (p.Arg293=)
|
|
|
NM_002049.4(GATA1):c.882A>G (p.Pro294=)
|
|
|
NM_002049.4(GATA1):c.892C>A (p.Arg298=)
|
|
|
NM_002049.4(GATA1):c.93G>A (p.Gly31=)
|
|
|
NM_002049.4(GATA1):c.969C>G (p.Gly323=)
|
|
|
NM_002454.3(MTRR):c.1026T>G (p.Leu342=)
|
|
|
NM_002454.3(MTRR):c.1029G>A (p.Leu343=)
|
|
|
NM_002454.3(MTRR):c.102T>C (p.Asp34=)
|
|
|
NM_002454.3(MTRR):c.1032A>G (p.Lys344=)
|
|
|
NM_002454.3(MTRR):c.1041A>C (p.Ala347=)
|
rs1331838959
|
|
NM_002454.3(MTRR):c.1057+12G>A
|
|
|
NM_002454.3(MTRR):c.1057+17T>C
|
|
|
NM_002454.3(MTRR):c.1057+8C>G
|
rs1325906968
|
|
NM_002454.3(MTRR):c.1057+8C>T
|
|
|
NM_002454.3(MTRR):c.1057+9_1057+16del
|
|
|
NM_002454.3(MTRR):c.1058-5A>C
|
rs2126751043
|
|
NM_002454.3(MTRR):c.1058-8del
|
rs1736476987
|
|
NM_002454.3(MTRR):c.1058-9C>T
|
rs1736476286
|
|
NM_002454.3(MTRR):c.1066T>C (p.Leu356=)
|
rs2126751152
|
|
NM_002454.3(MTRR):c.1071C>T (p.Pro357=)
|
|
|
NM_002454.3(MTRR):c.1074G>A (p.Gln358=)
|
rs1561229685
|
|
NM_002454.3(MTRR):c.1077T>C (p.His359=)
|
|
|
NM_002454.3(MTRR):c.1083T>C (p.Pro361=)
|
rs1405600544
|
|
NM_002454.3(MTRR):c.1089A>G (p.Gly363=)
|
rs1561230017
|
|
NM_002454.3(MTRR):c.108C>T (p.His36=)
|
|
|
NM_002454.3(MTRR):c.1091_1093del (p.Cys364del)
|
rs796052001
|
|
NM_002454.3(MTRR):c.1113C>T (p.Thr371=)
|
|
|
NM_002454.3(MTRR):c.1125A>G (p.Glu375=)
|
rs1425446891
|
|
NM_002454.3(MTRR):c.1140T>C (p.Pro380=)
|
|
|
NM_002454.3(MTRR):c.1146+10dup
|
rs750264866
|
|
NM_002454.3(MTRR):c.1146+13G>T
|
|
|
NM_002454.3(MTRR):c.1146+19T>G
|
|
|
NM_002454.3(MTRR):c.1147-11C>G
|
rs1015760904
|
|
NM_002454.3(MTRR):c.1147-14G>T
|
|
|
NM_002454.3(MTRR):c.1147-15G>T
|
|
|
NM_002454.3(MTRR):c.1147-17C>T
|
|
|
NM_002454.3(MTRR):c.1182C>T (p.Asp394=)
|
|
|
NM_002454.3(MTRR):c.1203A>G (p.Leu401=)
|
rs200661044
|
|
NM_002454.3(MTRR):c.1209G>A (p.Glu403=)
|
rs1324764527
|
|
NM_002454.3(MTRR):c.1212G>T (p.Leu404=)
|
rs2126771253
|
|
NM_002454.3(MTRR):c.1221A>G (p.Lys407=)
|
rs2126771342
|
|
NM_002454.3(MTRR):c.1230A>C (p.Ala410=)
|
rs2126771427
|
|
NM_002454.3(MTRR):c.1233C>G (p.Ala411=)
|
rs752174231
|
|
NM_002454.3(MTRR):c.1233C>T (p.Ala411=)
|
rs752174231
|
|
NM_002454.3(MTRR):c.1248T>C (p.Phe416=)
|
rs886060807
|
|
NM_002454.3(MTRR):c.1251A>C (p.Val417=)
|
|
|
NM_002454.3(MTRR):c.1260C>G (p.Ala420=)
|
rs774102072
|
|
NM_002454.3(MTRR):c.1260C>T (p.Ala420=)
|
rs774102072
|
|
NM_002454.3(MTRR):c.1272G>A (p.Leu424=)
|
|
|
NM_002454.3(MTRR):c.129+10G>C
|
rs6413427
|
|
NM_002454.3(MTRR):c.129+11T>C
|
|
|
NM_002454.3(MTRR):c.129+12T>C
|
|
|
NM_002454.3(MTRR):c.129+13A>T
|
|
|
NM_002454.3(MTRR):c.129+14C>G
|
|
|
NM_002454.3(MTRR):c.129+15A>G
|
|
|
NM_002454.3(MTRR):c.129+20A>C
|
|
|
NM_002454.3(MTRR):c.129+7G>A
|
|
|
NM_002454.3(MTRR):c.129+9C>T
|
rs527869420
|
|
NM_002454.3(MTRR):c.1290T>C (p.Ala430=)
|
rs2126772061
|
|
NM_002454.3(MTRR):c.1293C>T (p.Phe431=)
|
rs766885971
|
|
NM_002454.3(MTRR):c.130-14T>C
|
|
|
NM_002454.3(MTRR):c.130-17A>T
|
|
|
NM_002454.3(MTRR):c.130-18G>A
|
|
|
NM_002454.3(MTRR):c.130-20T>G
|
|
|
NM_002454.3(MTRR):c.130-4G>A
|
rs201823283
|
|
NM_002454.3(MTRR):c.1314C>T (p.Leu438=)
|
|
|
NM_002454.3(MTRR):c.1327+10C>G
|
rs757398819
|
|
NM_002454.3(MTRR):c.1327+10C>T
|
rs757398819
|
|
NM_002454.3(MTRR):c.1327+11G>A
|
|
|
NM_002454.3(MTRR):c.1327+19A>G
|
|
|
NM_002454.3(MTRR):c.1327+20A>G
|
|
|
NM_002454.3(MTRR):c.1327+8G>A
|
|
|
NM_002454.3(MTRR):c.1328-12A>G
|
|
|
NM_002454.3(MTRR):c.1328-13T>A
|
|
|
NM_002454.3(MTRR):c.1328-13T>C
|
|
|
NM_002454.3(MTRR):c.1328-4C>G
|
rs747003266
|
|
NM_002454.3(MTRR):c.1328-4C>T
|
rs747003266
|
|
NM_002454.3(MTRR):c.1328-6T>G
|
|
|
NM_002454.3(MTRR):c.1328-7_1328-5del
|
rs779772153
|
|
NM_002454.3(MTRR):c.1328-8T>C
|
|
|
NM_002454.3(MTRR):c.132T>C (p.Tyr44=)
|
|
|
NM_002454.3(MTRR):c.1350C>T (p.Pro450=)
|
|
|
NM_002454.3(MTRR):c.1356A>G (p.Pro452=)
|
|
|
NM_002454.3(MTRR):c.1368A>G (p.Ala456=)
|
rs2126785758
|
|
NM_002454.3(MTRR):c.1370+12T>C
|
|
|
NM_002454.3(MTRR):c.1370+12del
|
rs1444115346
|
|
NM_002454.3(MTRR):c.1370+20T>A
|
|
|
NM_002454.3(MTRR):c.1370+2TAC[3]
|
|
|
NM_002454.3(MTRR):c.1370+9A>G
|
rs2126785823
|
|
NM_002454.3(MTRR):c.1370+9del
|
|
|
NM_002454.3(MTRR):c.1371-11dup
|
|
|
NM_002454.3(MTRR):c.1371-17T>C
|
|
|
NM_002454.3(MTRR):c.1371-18G>A
|
|
|
NM_002454.3(MTRR):c.1371-4G>T
|
rs2126793044
|
|
NM_002454.3(MTRR):c.1371-8C>G
|
rs2126793017
|
|
NM_002454.3(MTRR):c.1386C>T (p.His462=)
|
|
|
NM_002454.3(MTRR):c.1395G>A (p.Lys465=)
|
rs2126793201
|
|
NM_002454.3(MTRR):c.1425T>C (p.Phe475=)
|
rs1737829430
|
|
NM_002454.3(MTRR):c.1428G>A (p.Leu476=)
|
|
|
NM_002454.3(MTRR):c.1431T>G (p.Ser477=)
|
rs896702427
|
|
NM_002454.3(MTRR):c.1452G>A (p.Leu484=)
|
rs2126793535
|
|
NM_002454.3(MTRR):c.1473C>T (p.Gly491=)
|
|
|
NM_002454.3(MTRR):c.1479G>A (p.Leu493=)
|
|
|
NM_002454.3(MTRR):c.1482C>T (p.Ala494=)
|
rs1579792709
|
|
NM_002454.3(MTRR):c.1488G>A (p.Leu496=)
|
rs1158860588
|
|
NM_002454.3(MTRR):c.1506G>A (p.Gln502=)
|
|
|
NM_002454.3(MTRR):c.1524C>T (p.Ser508=)
|
|
|
NM_002454.3(MTRR):c.1545C>T (p.Ala515=)
|
|
|
NM_002454.3(MTRR):c.1554T>C (p.Pro518=)
|
rs2126794116
|
|
NM_002454.3(MTRR):c.1557+10T>C
|
rs1414777712
|
|
NM_002454.3(MTRR):c.1557+16C>T
|
|
|
NM_002454.3(MTRR):c.1558-12G>A
|
|
|
NM_002454.3(MTRR):c.1558-13T>C
|
|
|
NM_002454.3(MTRR):c.1558-14A>G
|
|
|
NM_002454.3(MTRR):c.1558-15del
|
|
|
NM_002454.3(MTRR):c.1558-17T>C
|
|
|
NM_002454.3(MTRR):c.1558-8T>C
|
rs2126807577
|
|
NM_002454.3(MTRR):c.1560A>C (p.Ile520=)
|
|
|
NM_002454.3(MTRR):c.1566C>A (p.Ile522=)
|
rs1579815027
|
|
NM_002454.3(MTRR):c.1575A>T (p.Arg525=)
|
|
|
NM_002454.3(MTRR):c.1581A>G (p.Thr527=)
|
|
|
NM_002454.3(MTRR):c.1581A>T (p.Thr527=)
|
|
|
NM_002454.3(MTRR):c.1590C>T (p.Phe530=)
|
rs2126807805
|
|
NM_002454.3(MTRR):c.1594T>C (p.Leu532=)
|
rs2126807843
|
|
NM_002454.3(MTRR):c.1596A>G (p.Leu532=)
|
|
|
NM_002454.3(MTRR):c.1599A>G (p.Pro533=)
|
rs2126807880
|
|
NM_002454.3(MTRR):c.159T>C (p.Leu53=)
|
|
|
NM_002454.3(MTRR):c.15G>A (p.Leu5=)
|
rs2126643854
|
|
NM_002454.3(MTRR):c.1608C>T (p.Pro536=)
|
|
|
NM_002454.3(MTRR):c.1614C>T (p.Ile538=)
|
rs2126807956
|
|
NM_002454.3(MTRR):c.1620C>T (p.Ile540=)
|
|
|
NM_002454.3(MTRR):c.162T>C (p.Val54=)
|
rs2126662749
|
|
NM_002454.3(MTRR):c.1632T>C (p.Gly544=)
|
|
|
NM_002454.3(MTRR):c.1644C>T (p.Gly548=)
|
|
|
NM_002454.3(MTRR):c.1650C>T (p.Ala550=)
|
rs2126808168
|
|
NM_002454.3(MTRR):c.165T>C (p.Val55=)
|
|
|
NM_002454.3(MTRR):c.1668A>C (p.Leu556=)
|
|
|
NM_002454.3(MTRR):c.1668A>G (p.Leu556=)
|
|
|
NM_002454.3(MTRR):c.1674T>C (p.His558=)
|
|
|
NM_002454.3(MTRR):c.1676+7T>G
|
|
|
NM_002454.3(MTRR):c.1676+8C>T
|
|
|
NM_002454.3(MTRR):c.1677-11T>C
|
|
|
NM_002454.3(MTRR):c.1677-20C>T
|
|
|
NM_002454.3(MTRR):c.1677-4T>C
|
|
|
NM_002454.3(MTRR):c.1677-7dup
|
|
|
NM_002454.3(MTRR):c.1680G>A (p.Glu560=)
|
rs2126812708
|
|
NM_002454.3(MTRR):c.1686C>T (p.Leu562=)
|
rs909879819
|
|
NM_002454.3(MTRR):c.1698C>T (p.His566=)
|
rs2126812807
|
|
NM_002454.3(MTRR):c.16T>C (p.Leu6=)
|
rs2126643873
|
|
NM_002454.3(MTRR):c.1704T>C (p.Asp568=)
|
rs2126812841
|
|
NM_002454.3(MTRR):c.1716A>C (p.Gly572=)
|
rs755255468
|
|
NM_002454.3(MTRR):c.171T>A (p.Val57=)
|
rs2126662820
|
|
NM_002454.3(MTRR):c.1728G>A (p.Leu576=)
|
|
|
NM_002454.3(MTRR):c.1741A>C (p.Arg581=)
|
rs1738621244
|
|
NM_002454.3(MTRR):c.1749G>A (p.Lys583=)
|
rs1261248965
|
|
NM_002454.3(MTRR):c.1764A>C (p.Leu588=)
|
rs766927577
|
|
NM_002454.3(MTRR):c.1764A>T (p.Leu588=)
|
rs766927577
|
|
NM_002454.3(MTRR):c.1769+10A>T
|
rs1738630744
|
|
NM_002454.3(MTRR):c.1769+11A>G
|
|
|
NM_002454.3(MTRR):c.1769+15C>G
|
|
|
NM_002454.3(MTRR):c.1769+9C>G
|
|
|
NM_002454.3(MTRR):c.1770-12A>G
|
|
|
NM_002454.3(MTRR):c.1770-14A>G
|
|
|
NM_002454.3(MTRR):c.1770-7A>G
|
rs2126813814
|
|
NM_002454.3(MTRR):c.1779C>G (p.Leu593=)
|
|
|
NM_002454.3(MTRR):c.177C>T (p.Thr59=)
|
|
|
NM_002454.3(MTRR):c.1788C>T (p.Phe596=)
|
|
|
NM_002454.3(MTRR):c.1794G>A (p.Lys598=)
|
rs2126814001
|
|
NM_002454.3(MTRR):c.1803C>T (p.Ile601=)
|
rs1448214074
|
|
NM_002454.3(MTRR):c.1804T>C (p.Leu602=)
|
|
|
NM_002454.3(MTRR):c.1809T>C (p.Thr603=)
|
rs1390898831
|
|
NM_002454.3(MTRR):c.1815A>G (p.Leu605=)
|
rs2126814152
|
|
NM_002454.3(MTRR):c.1824C>G (p.Ser608=)
|
|
|
NM_002454.3(MTRR):c.1839T>A (p.Ala613=)
|
rs2126814313
|
|
NM_002454.3(MTRR):c.183C>T (p.Gly61=)
|
|
|
NM_002454.3(MTRR):c.1854G>A (p.Glu618=)
|
rs955857433
|
|
NM_002454.3(MTRR):c.1863A>G (p.Pro621=)
|
|
|
NM_002454.3(MTRR):c.1866A>G (p.Ala622=)
|
|
|
NM_002454.3(MTRR):c.186C>T (p.Thr62=)
|
rs940332374
|
|
NM_002454.3(MTRR):c.1875G>C (p.Val625=)
|
rs12347
|
|
NM_002454.3(MTRR):c.1875G>T (p.Val625=)
|
rs12347
|
|
NM_002454.3(MTRR):c.1878A>G (p.Gln626=)
|
|
|
NM_002454.3(MTRR):c.1884C>T (p.Asn628=)
|
|
|
NM_002454.3(MTRR):c.1887C>A (p.Ile629=)
|
rs2126814585
|
|
NM_002454.3(MTRR):c.1887C>T (p.Ile629=)
|
|
|
NM_002454.3(MTRR):c.1893T>C (p.Leu631=)
|
rs114274194
|
|
NM_002454.3(MTRR):c.1902G>A (p.Gln634=)
|
rs945164864
|
|
NM_002454.3(MTRR):c.1912A>C (p.Arg638=)
|
rs2126814708
|
|
NM_002454.3(MTRR):c.1920C>T (p.Leu640=)
|
|
|
NM_002454.3(MTRR):c.1923C>G (p.Leu641=)
|
rs1738686385
|
|
NM_002454.3(MTRR):c.1923C>T (p.Leu641=)
|
|
|
NM_002454.3(MTRR):c.1929G>A (p.Glu643=)
|
rs1738688155
|
|
NM_002454.3(MTRR):c.1932C>T (p.Asn644=)
|
rs374659219
|
|
NM_002454.3(MTRR):c.1938T>C (p.His646=)
|
rs747850307
|
|
NM_002454.3(MTRR):c.1952+10T>A
|
|
|
NM_002454.3(MTRR):c.1952+10T>C
|
|
|
NM_002454.3(MTRR):c.1952+10_1952+12del
|
rs2126815094
|
|
NM_002454.3(MTRR):c.1952+11A>T
|
|
|
NM_002454.3(MTRR):c.1952+12_1952+16dup
|
|
|
NM_002454.3(MTRR):c.1952+13C>T
|
|
|
NM_002454.3(MTRR):c.1952+17C>A
|
|
|
NM_002454.3(MTRR):c.1952+20A>G
|
|
|
NM_002454.3(MTRR):c.1952+7C>T
|
|
|
NM_002454.3(MTRR):c.1953-14A>G
|
|
|
NM_002454.3(MTRR):c.1953-14_1953-12del
|
|
|
NM_002454.3(MTRR):c.1953-15T>C
|
|
|
NM_002454.3(MTRR):c.1953-16T>C
|
|
|
NM_002454.3(MTRR):c.1953-18T>C
|
|
|
NM_002454.3(MTRR):c.1953-19T>C
|
|
|
NM_002454.3(MTRR):c.1953-20C>T
|
|
|
NM_002454.3(MTRR):c.1953-4C>G
|
|
|
NM_002454.3(MTRR):c.1953-4C>T
|
|
|
NM_002454.3(MTRR):c.1953-9C>A
|
|
|
NM_002454.3(MTRR):c.1956T>C (p.Asp652=)
|
rs765283033
|
|
NM_002454.3(MTRR):c.195A>G (p.Pro65=)
|
rs1166869664
|
|
NM_002454.3(MTRR):c.1962G>A (p.Lys654=)
|
|
|
NM_002454.3(MTRR):c.1971C>T (p.Ala657=)
|
|
|
NM_002454.3(MTRR):c.1983T>C (p.His661=)
|
|
|
NM_002454.3(MTRR):c.1986T>C (p.Asp662=)
|
rs2126829225
|
|
NM_002454.3(MTRR):c.1989C>T (p.Ala663=)
|
rs2126829261
|
|
NM_002454.3(MTRR):c.1998A>G (p.Gln666=)
|
rs767507060
|
|
NM_002454.3(MTRR):c.2001A>T (p.Ile667=)
|
rs1186554585
|
|
NM_002454.3(MTRR):c.2016T>C (p.Val672=)
|
rs1162603124
|
|
NM_002454.3(MTRR):c.2029C>T (p.Leu677=)
|
|
|
NM_002454.3(MTRR):c.2031A>C (p.Leu677=)
|
|
|
NM_002454.3(MTRR):c.2037A>C (p.Ala679=)
|
|
|
NM_002454.3(MTRR):c.2037A>G (p.Ala679=)
|
|
|
NM_002454.3(MTRR):c.2047C>T (p.Leu683=)
|
|
|
NM_002454.3(MTRR):c.2049G>C (p.Leu683=)
|
|
|
NM_002454.3(MTRR):c.204A>G (p.Thr68=)
|
|
|
NM_002454.3(MTRR):c.2079T>G (p.Leu693=)
|
|
|
NM_002454.3(MTRR):c.2088T>A (p.Ile696=)
|
|
|
NM_002454.3(MTRR):c.2088T>C (p.Ile696=)
|
rs2126829944
|
|
NM_002454.3(MTRR):c.2094A>G (p.Ser698=)
|
rs1249803440
|
|
NM_002454.3(MTRR):c.216T>C (p.Phe72=)
|
|
|
NM_002454.3(MTRR):c.234C>T (p.Asn78=)
|
rs757746363
|
|
NM_002454.3(MTRR):c.237A>G (p.Gln79=)
|
|
|
NM_002454.3(MTRR):c.240A>C (p.Thr80=)
|
|
|
NM_002454.3(MTRR):c.240A>G (p.Thr80=)
|
|
|
NM_002454.3(MTRR):c.246G>A (p.Pro82=)
|
rs149300444
|
|
NM_002454.3(MTRR):c.24T>C (p.Tyr8=)
|
rs1747831647
|
|
NM_002454.3(MTRR):c.261T>C (p.Ala87=)
|
rs138167806
|
|
NM_002454.3(MTRR):c.264C>T (p.His88=)
|
rs770540418
|
|
NM_002454.3(MTRR):c.277T>C (p.Leu93=)
|
rs1318273666
|
|
NM_002454.3(MTRR):c.279A>G (p.Leu93=)
|
|
|
NM_002454.3(MTRR):c.283+13C>T
|
|
|
NM_002454.3(MTRR):c.283+15C>G
|
|
|
NM_002454.3(MTRR):c.283+9C>T
|
rs2126663981
|
|
NM_002454.3(MTRR):c.284-17G>A
|
|
|
NM_002454.3(MTRR):c.284-17del
|
|
|
NM_002454.3(MTRR):c.284-18T>C
|
|
|
NM_002454.3(MTRR):c.284-5T>G
|
|
|
NM_002454.3(MTRR):c.284-6C>T
|
|
|
NM_002454.3(MTRR):c.288C>G (p.Leu96=)
|
rs35587995
|
|
NM_002454.3(MTRR):c.309C>T (p.Tyr103=)
|
|
|
NM_002454.3(MTRR):c.312T>C (p.Phe104=)
|
rs1044244393
|
|
NM_002454.3(MTRR):c.318T>C (p.Asn106=)
|
|
|
NM_002454.3(MTRR):c.324G>A (p.Gly108=)
|
|
|
NM_002454.3(MTRR):c.333T>C (p.Ile111=)
|
rs2126675587
|
|
NM_002454.3(MTRR):c.342A>G (p.Arg114=)
|
|
|
NM_002454.3(MTRR):c.345T>G (p.Leu115=)
|
|
|
NM_002454.3(MTRR):c.348A>G (p.Gln116=)
|
|
|
NM_002454.3(MTRR):c.354T>G (p.Leu118=)
|
rs1465852233
|
|
NM_002454.3(MTRR):c.360C>T (p.Ala120=)
|
|
|
NM_002454.3(MTRR):c.369C>T (p.Phe123=)
|
|
|
NM_002454.3(MTRR):c.375C>T (p.Asp125=)
|
rs757292247
|
|
NM_002454.3(MTRR):c.381A>G (p.Gly127=)
|
rs771642983
|
|
NM_002454.3(MTRR):c.393C>T (p.Asp131=)
|
|
|
NM_002454.3(MTRR):c.396T>C (p.Cys132=)
|
|
|
NM_002454.3(MTRR):c.401+12_401+13del
|
|
|
NM_002454.3(MTRR):c.401+14T>A
|
|
|
NM_002454.3(MTRR):c.401+17C>G
|
|
|
NM_002454.3(MTRR):c.401+17C>T
|
|
|
NM_002454.3(MTRR):c.402-18T>C
|
|
|
NM_002454.3(MTRR):c.402-6G>T
|
rs2126692815
|
|
NM_002454.3(MTRR):c.402-6del
|
|
|
NM_002454.3(MTRR):c.414G>A (p.Val138=)
|
|
|
NM_002454.3(MTRR):c.420G>A (p.Glu140=)
|
|
|
NM_002454.3(MTRR):c.423G>C (p.Pro141=)
|
rs753947379
|
|
NM_002454.3(MTRR):c.438C>A (p.Leu146=)
|
|
|
NM_002454.3(MTRR):c.438C>G (p.Leu146=)
|
|
|
NM_002454.3(MTRR):c.438C>T (p.Leu146=)
|
|
|
NM_002454.3(MTRR):c.456G>A (p.Lys152=)
|
rs1734864252
|
|
NM_002454.3(MTRR):c.462T>C (p.Phe154=)
|
rs2126693127
|
|
NM_002454.3(MTRR):c.468A>G (p.Ser156=)
|
|
|
NM_002454.3(MTRR):c.472A>C (p.Arg158=)
|
|
|
NM_002454.3(MTRR):c.477A>C (p.Gly159=)
|
rs1270504511
|
|
NM_002454.3(MTRR):c.483G>A (p.Glu161=)
|
|
|
NM_002454.3(MTRR):c.507G>T (p.Val169=)
|
rs367609729
|
|
NM_002454.3(MTRR):c.516T>C (p.Pro172=)
|
rs1579656831
|
|
NM_002454.3(MTRR):c.516T>G (p.Pro172=)
|
|
|
NM_002454.3(MTRR):c.51C>G (p.Ala17=)
|
|
|
NM_002454.3(MTRR):c.51C>T (p.Ala17=)
|
|
|
NM_002454.3(MTRR):c.525G>A (p.Ser175=)
|
|
|
NM_002454.3(MTRR):c.525G>C (p.Ser175=)
|
|
|
NM_002454.3(MTRR):c.534C>T (p.Asp178=)
|
rs1417585228
|
|
NM_002454.3(MTRR):c.558C>T (p.His186=)
|
|
|
NM_002454.3(MTRR):c.573C>G (p.Val191=)
|
rs777364593
|
|
NM_002454.3(MTRR):c.573C>T (p.Val191=)
|
rs777364593
|
|
NM_002454.3(MTRR):c.579T>C (p.Leu193=)
|
rs2126694174
|
|
NM_002454.3(MTRR):c.57A>C (p.Ala19=)
|
|
|
NM_002454.3(MTRR):c.582G>A (p.Leu194=)
|
|
|
NM_002454.3(MTRR):c.591T>C (p.Asp197=)
|
|
|
NM_002454.3(MTRR):c.606G>A (p.Lys202=)
|
rs368030155
|
|
NM_002454.3(MTRR):c.612T>G (p.Ser204=)
|
rs374670570
|
|
NM_002454.3(MTRR):c.624G>A (p.Lys208=)
|
|
|
NM_002454.3(MTRR):c.630T>C (p.Asn210=)
|
rs2126694596
|
|
NM_002454.3(MTRR):c.636G>A (p.Val212=)
|
rs368140804
|
|
NM_002454.3(MTRR):c.636G>C (p.Val212=)
|
|
|
NM_002454.3(MTRR):c.645C>T (p.Asn215=)
|
rs1734907656
|
|
NM_002454.3(MTRR):c.654T>C (p.Asn218=)
|
rs770060665
|
|
NM_002454.3(MTRR):c.678C>G (p.Ser226=)
|
|
|
NM_002454.3(MTRR):c.678C>T (p.Ser226=)
|
|
|
NM_002454.3(MTRR):c.681A>G (p.Ser227=)
|
rs749515067
|
|
NM_002454.3(MTRR):c.693G>A (p.Ser231=)
|
|
|
NM_002454.3(MTRR):c.693G>C (p.Ser231=)
|
rs775348918
|
|
NM_002454.3(MTRR):c.6G>A (p.Arg2=)
|
rs560321328
|
|
NM_002454.3(MTRR):c.702A>C (p.Pro234=)
|
rs961373750
|
|
NM_002454.3(MTRR):c.702A>G (p.Pro234=)
|
rs961373750
|
|
NM_002454.3(MTRR):c.735A>G (p.Leu245=)
|
rs1343821146
|
|
NM_002454.3(MTRR):c.738C>T (p.Pro246=)
|
|
|
NM_002454.3(MTRR):c.753G>A (p.Gln251=)
|
|
|
NM_002454.3(MTRR):c.75A>G (p.Gln25=)
|
rs1553999358
|
|
NM_002454.3(MTRR):c.762G>A (p.Leu254=)
|
|
|
NM_002454.3(MTRR):c.780+17T>C
|
|
|
NM_002454.3(MTRR):c.780+17T>G
|
|
|
NM_002454.3(MTRR):c.780+19A>G
|
|
|
NM_002454.3(MTRR):c.780+19del
|
|
|
NM_002454.3(MTRR):c.780+8A>G
|
rs1283751633
|
|
NM_002454.3(MTRR):c.781-4C>T
|
rs1057521905
|
|
NM_002454.3(MTRR):c.781-6T>C
|
|
|
NM_002454.3(MTRR):c.781-8T>C
|
|
|
NM_002454.3(MTRR):c.789C>T (p.Ser263=)
|
rs577950573
|
|
NM_002454.3(MTRR):c.816A>G (p.Pro272=)
|
|
|
NM_002454.3(MTRR):c.81G>A (p.Val27=)
|
rs1361273528
|
|
NM_002454.3(MTRR):c.825A>G (p.Gln275=)
|
|
|
NM_002454.3(MTRR):c.849A>G (p.Gln283=)
|
rs1464577162
|
|
NM_002454.3(MTRR):c.858G>A (p.Thr286=)
|
rs762745815
|
|
NM_002454.3(MTRR):c.858G>C (p.Thr286=)
|
rs762745815
|
|
NM_002454.3(MTRR):c.858G>T (p.Thr286=)
|
|
|
NM_002454.3(MTRR):c.867C>G (p.Ala289=)
|
rs1579702611
|
|
NM_002454.3(MTRR):c.867C>T (p.Ala289=)
|
rs1579702611
|
|
NM_002454.3(MTRR):c.873A>G (p.Lys291=)
|
rs2126727889
|
|
NM_002454.3(MTRR):c.87T>C (p.His29=)
|
rs1212726848
|
|
NM_002454.3(MTRR):c.882G>A (p.Leu294=)
|
|
|
NM_002454.3(MTRR):c.892T>C (p.Leu298=)
|
rs758638445
|
|
NM_002454.3(MTRR):c.903+11A>G
|
|
|
NM_002454.3(MTRR):c.903+15T>G
|
|
|
NM_002454.3(MTRR):c.903+17_903+20del
|
|
|
NM_002454.3(MTRR):c.903+7T>C
|
|
|
NM_002454.3(MTRR):c.903+9C>T
|
|
|
NM_002454.3(MTRR):c.904-10T>C
|
|
|
NM_002454.3(MTRR):c.904-12G>T
|
|
|
NM_002454.3(MTRR):c.904-16T>C
|
|
|
NM_002454.3(MTRR):c.904-18A>G
|
|
|
NM_002454.3(MTRR):c.904-19C>T
|
|
|
NM_002454.3(MTRR):c.904-20_904-19insTTC
|
rs1554003809
|
|
NM_002454.3(MTRR):c.904-3dup
|
rs764339809
|
|
NM_002454.3(MTRR):c.904-4C>A
|
|
|
NM_002454.3(MTRR):c.909A>G (p.Thr303=)
|
rs747851597
|
|
NM_002454.3(MTRR):c.915T>C (p.Phe305=)
|
|
|
NM_002454.3(MTRR):c.924G>A (p.Gln308=)
|
|
|
NM_002454.3(MTRR):c.930A>C (p.Gly310=)
|
rs2126744786
|
|
NM_002454.3(MTRR):c.936C>A (p.Ala312=)
|
|
|
NM_002454.3(MTRR):c.936C>G (p.Ala312=)
|
rs777075473
|
|
NM_002454.3(MTRR):c.939C>T (p.Phe313=)
|
rs1475861942
|
|
NM_002454.3(MTRR):c.957C>T (p.Asn319=)
|
rs2126745060
|
|
NM_002454.3(MTRR):c.966T>C (p.Ser322=)
|
|
|
NM_002454.3(MTRR):c.972A>C (p.Val324=)
|
|
|
NM_002454.3(MTRR):c.979C>T (p.Leu327=)
|
rs2126745164
|
|
NM_002454.3(MTRR):c.981A>G (p.Leu327=)
|
|
|
NM_002454.3(MTRR):c.984C>G (p.Leu328=)
|
rs752543039
|
|
NM_002454.3(MTRR):c.984C>T (p.Leu328=)
|
|
|
NM_002454.3(MTRR):c.993G>C (p.Leu331=)
|
rs777698463
|
|
NM_002454.3(MTRR):c.99A>C (p.Ala33=)
|
rs1747850617
|
|
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_005050.4(ABCD4):c.1028+19C>G
|
|
|
NM_005050.4(ABCD4):c.1028+20C>A
|
rs2139899171
|
|
NM_005050.4(ABCD4):c.1028+8C>T
|
|
|
NM_005050.4(ABCD4):c.1028+9G>T
|
|
|
NM_005050.4(ABCD4):c.1029-14C>G
|
|
|
NM_005050.4(ABCD4):c.1043G>T (p.Arg348Leu)
|
rs147100216
|
|
NM_005050.4(ABCD4):c.1050G>A (p.Thr350=)
|
|
|
NM_005050.4(ABCD4):c.1119-20C>T
|
|
|
NM_005050.4(ABCD4):c.1188C>A (p.Ala396=)
|
|
|
NM_005050.4(ABCD4):c.1194C>T (p.Ser398=)
|
|
|
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)
|
rs200761248
|
|
NM_005050.4(ABCD4):c.1327+9C>A
|
|
|
NM_005050.4(ABCD4):c.1328-18T>C
|
|
|
NM_005050.4(ABCD4):c.1328-19G>A
|
rs376137295
|
|
NM_005050.4(ABCD4):c.1347G>A (p.Thr449=)
|
|
|
NM_005050.4(ABCD4):c.1356G>T (p.Gly452=)
|
|
|
NM_005050.4(ABCD4):c.1419+15G>A
|
|
|
NM_005050.4(ABCD4):c.1431C>A (p.Pro477=)
|
|
|
NM_005050.4(ABCD4):c.1456+9G>T
|
|
|
NM_005050.4(ABCD4):c.1457-18G>A
|
|
|
NM_005050.4(ABCD4):c.1467T>A (p.Asp489Glu)
|
|
|
NM_005050.4(ABCD4):c.1507-4A>G
|
|
|
NM_005050.4(ABCD4):c.1559+13C>T
|
|
|
NM_005050.4(ABCD4):c.1559+16G>A
|
|
|
NM_005050.4(ABCD4):c.158-14C>T
|
|
|
NM_005050.4(ABCD4):c.1605C>A (p.Ala535=)
|
|
|
NM_005050.4(ABCD4):c.1632C>T (p.Tyr544=)
|
|
|
NM_005050.4(ABCD4):c.1637-15G>T
|
rs2079892790
|
|
NM_005050.4(ABCD4):c.1637-6C>G
|
|
|
NM_005050.4(ABCD4):c.1695C>T (p.Ile565=)
|
|
|
NM_005050.4(ABCD4):c.286-10C>G
|
|
|
NM_005050.4(ABCD4):c.342C>T (p.Asp114=)
|
|
|
NM_005050.4(ABCD4):c.38+16G>A
|
|
|
NM_005050.4(ABCD4):c.38+18G>A
|
|
|
NM_005050.4(ABCD4):c.39-19C>T
|
|
|
NM_005050.4(ABCD4):c.426-11A>G
|
rs2140018313
|
|
NM_005050.4(ABCD4):c.426-4C>G
|
rs765378243
|
|
NM_005050.4(ABCD4):c.432G>A (p.Gln144=)
|
|
|
NM_005050.4(ABCD4):c.497T>C (p.Ile166Thr)
|
|
|
NM_005050.4(ABCD4):c.528C>T (p.Tyr176=)
|
|
|
NM_005050.4(ABCD4):c.537C>T (p.Phe179=)
|
|
|
NM_005050.4(ABCD4):c.542+20C>G
|
rs2140013486
|
|
NM_005050.4(ABCD4):c.543-11C>G
|
|
|
NM_005050.4(ABCD4):c.543-17CT[3]
|
|
|
NM_005050.4(ABCD4):c.543-17CT[4]
|
|
|
NM_005050.4(ABCD4):c.573C>T (p.Phe191=)
|
|
|
NM_005050.4(ABCD4):c.57A>G (p.Gln19=)
|
rs574817590
|
|
NM_005050.4(ABCD4):c.669-6G>A
|
|
|
NM_005050.4(ABCD4):c.810G>A (p.Leu270=)
|
|
|
NM_005050.4(ABCD4):c.814+13G>A
|
|
|
NM_005050.4(ABCD4):c.816C>T (p.Ile272=)
|
|
|
NM_005050.4(ABCD4):c.861T>G (p.Val287=)
|
|
|
NM_005050.4(ABCD4):c.927G>A (p.Leu309=)
|
|
|
NM_005050.4(ABCD4):c.930C>T (p.Val310=)
|
|
|
NM_005050.4(ABCD4):c.936+20A>C
|
|
|
NM_005050.4(ABCD4):c.936+20A>G
|
|
|
NM_005050.4(ABCD4):c.996G>C (p.Thr332=)
|
|
|
NM_005050.4(ABCD4):c.9C>T (p.Val3=)
|
|
|
NM_005142.3(CBLIF):c.1002T>C (p.Asn334=)
|
|
|
NM_005142.3(CBLIF):c.1035T>C (p.Val345=)
|
|
|
NM_005142.3(CBLIF):c.1074-10dup
|
rs769669334
|
|
NM_005142.3(CBLIF):c.1092A>G (p.Thr364=)
|
|
|
NM_005142.3(CBLIF):c.1192+7G>A
|
rs1417075488
|
|
NM_005142.3(CBLIF):c.138G>A (p.Ser46=)
|
rs200472519
|
|
NM_005142.3(CBLIF):c.138G>T (p.Ser46=)
|
|
|
NM_005142.3(CBLIF):c.220C>T (p.Leu74Phe)
|
|
|
NM_005142.3(CBLIF):c.256+18C>T
|
|
|
NM_005142.3(CBLIF):c.256+20C>T
|
|
|
NM_005142.3(CBLIF):c.257-13C>T
|
|
|
NM_005142.3(CBLIF):c.27G>A (p.Leu9=)
|
|
|
NM_005142.3(CBLIF):c.288C>A (p.Ile96=)
|
|
|
NM_005142.3(CBLIF):c.370+10G>T
|
|
|
NM_005142.3(CBLIF):c.370+13T>C
|
|
|
NM_005142.3(CBLIF):c.370+14G>A
|
|
|
NM_005142.3(CBLIF):c.370+20G>A
|
|
|
NM_005142.3(CBLIF):c.381T>G (p.Ala127=)
|
rs1590860111
|
|
NM_005142.3(CBLIF):c.418T>C (p.Leu140=)
|
rs141917734
|
|
NM_005142.3(CBLIF):c.432GAA[1] (p.Lys145del)
|
rs770530971
|
|
NM_005142.3(CBLIF):c.438C>T (p.Asn146=)
|
|
|
NM_005142.3(CBLIF):c.468C>T (p.Arg156=)
|
|
|
NM_005142.3(CBLIF):c.512-17C>A
|
|
|
NM_005142.3(CBLIF):c.51G>A (p.Gly17=)
|
|
|
NM_005142.3(CBLIF):c.543C>A (p.Thr181=)
|
|
|
NM_005142.3(CBLIF):c.693+10T>G
|
|
|
NM_005142.3(CBLIF):c.693+8C>T
|
|
|
NM_005142.3(CBLIF):c.693+9G>A
|
|
|
NM_005142.3(CBLIF):c.79+10_79+12del
|
|
|
NM_005142.3(CBLIF):c.79+11T>C
|
|
|
NM_005142.3(CBLIF):c.834G>A (p.Lys278=)
|
|
|
NM_005142.3(CBLIF):c.871+14C>G
|
|
|
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_005334.3(HCFC1):c.1002G>A (p.Leu334=)
|
|
|
NM_005334.3(HCFC1):c.1005C>T (p.Tyr335=)
|
|
|
NM_005334.3(HCFC1):c.1017G>A (p.Gly339=)
|
|
|
NM_005334.3(HCFC1):c.1023C>T (p.Asp341=)
|
|
|
NM_005334.3(HCFC1):c.1029C>T (p.Tyr343=)
|
rs2148589412
|
|
NM_005334.3(HCFC1):c.1038C>G (p.Ala346=)
|
|
|
NM_005334.3(HCFC1):c.1084+18G>A
|
|
|
NM_005334.3(HCFC1):c.1084+18G>T
|
rs782811477
|
|
NM_005334.3(HCFC1):c.1084+20C>T
|
|
|
NM_005334.3(HCFC1):c.1084+7C>A
|
|
|
NM_005334.3(HCFC1):c.1084+9G>A
|
rs1557116426
|
|
NM_005334.3(HCFC1):c.1085-12G>C
|
|
|
NM_005334.3(HCFC1):c.1085-12G>T
|
|
|
NM_005334.3(HCFC1):c.1085-17A>G
|
|
|
NM_005334.3(HCFC1):c.1085-20C>T
|
|
|
NM_005334.3(HCFC1):c.1085-6C>T
|
|
|
NM_005334.3(HCFC1):c.1116G>A (p.Leu372=)
|
|
|
NM_005334.3(HCFC1):c.111C>A (p.Arg37=)
|
|
|
NM_005334.3(HCFC1):c.1122C>A (p.Arg374=)
|
|
|
NM_005334.3(HCFC1):c.1137C>T (p.Ser379=)
|
|
|
NM_005334.3(HCFC1):c.1149C>T (p.Ser383=)
|
|
|
NM_005334.3(HCFC1):c.1170C>T (p.Ala390=)
|
|
|
NM_005334.3(HCFC1):c.1203C>T (p.Asp401=)
|
|
|
NM_005334.3(HCFC1):c.1215G>A (p.Thr405=)
|
|
|
NM_005334.3(HCFC1):c.1230C>G (p.Thr410=)
|
|
|
NM_005334.3(HCFC1):c.1247C>T (p.Pro416Leu)
|
|
|
NM_005334.3(HCFC1):c.1248G>A (p.Pro416=)
|
|
|
NM_005334.3(HCFC1):c.1251C>T (p.Val417=)
|
rs1557116313
|
|
NM_005334.3(HCFC1):c.1275C>T (p.Pro425=)
|
|
|
NM_005334.3(HCFC1):c.1299C>T (p.Ala433=)
|
|
|
NM_005334.3(HCFC1):c.129G>A (p.Glu43=)
|
|
|
NM_005334.3(HCFC1):c.1300G>A (p.Ala434Thr)
|
|
|
NM_005334.3(HCFC1):c.1347C>G (p.Pro449=)
|
|
|
NM_005334.3(HCFC1):c.1359C>T (p.Pro453=)
|
|
|
NM_005334.3(HCFC1):c.1362A>G (p.Ala454=)
|
|
|
NM_005334.3(HCFC1):c.1407C>A (p.Gly469=)
|
|
|
NM_005334.3(HCFC1):c.1422G>A (p.Val474=)
|
|
|
NM_005334.3(HCFC1):c.1444+10G>A
|
|
|
NM_005334.3(HCFC1):c.1444+14C>T
|
|
|
NM_005334.3(HCFC1):c.1444+18G>A
|
|
|
NM_005334.3(HCFC1):c.1445-11T>C
|
|
|
NM_005334.3(HCFC1):c.1445-17G>T
|
|
|
NM_005334.3(HCFC1):c.1445-20C>G
|
|
|
NM_005334.3(HCFC1):c.1445-7T>C
|
|
|
NM_005334.3(HCFC1):c.1445-8C>G
|
|
|
NM_005334.3(HCFC1):c.1445-8C>T
|
|
|
NM_005334.3(HCFC1):c.1452T>C (p.Pro484=)
|
|
|
NM_005334.3(HCFC1):c.1527T>C (p.Ala509=)
|
|
|
NM_005334.3(HCFC1):c.153C>T (p.Gly51=)
|
|
|
NM_005334.3(HCFC1):c.1544C>G (p.Thr515Ser)
|
|
|
NM_005334.3(HCFC1):c.1545C>T (p.Thr515=)
|
|
|
NM_005334.3(HCFC1):c.1546G>A (p.Val516Met)
|
|
|
NM_005334.3(HCFC1):c.1561G>A (p.Ala521Thr)
|
|
|
NM_005334.3(HCFC1):c.1605+11G>A
|
rs2148586621
|
|
NM_005334.3(HCFC1):c.1605+11G>T
|
|
|
NM_005334.3(HCFC1):c.1605+18G>A
|
|
|
NM_005334.3(HCFC1):c.1606-11G>T
|
|
|
NM_005334.3(HCFC1):c.1606-14C>T
|
|
|
NM_005334.3(HCFC1):c.1606-15C>T
|
|
|
NM_005334.3(HCFC1):c.1606-16C>T
|
|
|
NM_005334.3(HCFC1):c.1606-17G>A
|
|
|
NM_005334.3(HCFC1):c.1623A>G (p.Pro541=)
|
|
|
NM_005334.3(HCFC1):c.1641C>T (p.Ala547=)
|
|
|
NM_005334.3(HCFC1):c.1659C>A (p.Ala553=)
|
|
|
NM_005334.3(HCFC1):c.1659C>T (p.Ala553=)
|
|
|
NM_005334.3(HCFC1):c.1677C>A (p.Ile559=)
|
|
|
NM_005334.3(HCFC1):c.1683T>C (p.Pro561=)
|
|
|
NM_005334.3(HCFC1):c.1713A>G (p.Pro571=)
|
rs2148584844
|
|
NM_005334.3(HCFC1):c.171C>T (p.Asp57=)
|
|
|
NM_005334.3(HCFC1):c.1756A>G (p.Thr586Ala)
|
|
|
NM_005334.3(HCFC1):c.1767C>T (p.Leu589=)
|
|
|
NM_005334.3(HCFC1):c.177G>A (p.Leu59=)
|
|
|
NM_005334.3(HCFC1):c.1788C>T (p.Ala596=)
|
|
|
NM_005334.3(HCFC1):c.1794G>C (p.Ser598=)
|
rs2148584612
|
|
NM_005334.3(HCFC1):c.1803+13del
|
|
|
NM_005334.3(HCFC1):c.1803+15G>A
|
|
|
NM_005334.3(HCFC1):c.1804-14T>C
|
|
|
NM_005334.3(HCFC1):c.1804-7C>T
|
|
|
NM_005334.3(HCFC1):c.1804-9C>G
|
|
|
NM_005334.3(HCFC1):c.1812C>T (p.Asn604=)
|
|
|
NM_005334.3(HCFC1):c.1813C>G (p.Pro605Ala)
|
|
|
NM_005334.3(HCFC1):c.1860G>A (p.Ser620=)
|
|
|
NM_005334.3(HCFC1):c.1878C>T (p.Asn626=)
|
|
|
NM_005334.3(HCFC1):c.1887C>T (p.Thr629=)
|
|
|
NM_005334.3(HCFC1):c.189C>T (p.Asn63=)
|
|
|
NM_005334.3(HCFC1):c.193+12G>A
|
|
|
NM_005334.3(HCFC1):c.193+15C>T
|
|
|
NM_005334.3(HCFC1):c.193+15dup
|
|
|
NM_005334.3(HCFC1):c.193+16G>T
|
|
|
NM_005334.3(HCFC1):c.193+7G>A
|
|
|
NM_005334.3(HCFC1):c.194-19G>C
|
|
|
NM_005334.3(HCFC1):c.194-20T>C
|
|
|
NM_005334.3(HCFC1):c.1947G>T (p.Val649=)
|
|
|
NM_005334.3(HCFC1):c.1953C>T (p.Thr651=)
|
|
|
NM_005334.3(HCFC1):c.1965C>T (p.Gly655=)
|
|
|
NM_005334.3(HCFC1):c.1968G>A (p.Gly656=)
|
|
|
NM_005334.3(HCFC1):c.2004C>T (p.Ile668=)
|
|
|
NM_005334.3(HCFC1):c.2028+17G>A
|
|
|
NM_005334.3(HCFC1):c.2029-12C>T
|
|
|
NM_005334.3(HCFC1):c.2029-12del
|
|
|
NM_005334.3(HCFC1):c.2029-14C>T
|
|
|
NM_005334.3(HCFC1):c.2029-18C>T
|
|
|
NM_005334.3(HCFC1):c.2127C>T (p.Ile709=)
|
|
|
NM_005334.3(HCFC1):c.2133+10C>T
|
|
|
NM_005334.3(HCFC1):c.2133+11dup
|
|
|
NM_005334.3(HCFC1):c.2133+20A>C
|
|
|
NM_005334.3(HCFC1):c.2134-14C>T
|
|
|
NM_005334.3(HCFC1):c.2134-18C>T
|
|
|
NM_005334.3(HCFC1):c.2134-20C>T
|
|
|
NM_005334.3(HCFC1):c.2134-9C>T
|
|
|
NM_005334.3(HCFC1):c.2148G>A (p.Leu716=)
|
|
|
NM_005334.3(HCFC1):c.2152G>C (p.Ala718Pro)
|
|
|
NM_005334.3(HCFC1):c.2170C>T (p.Leu724=)
|
|
|
NM_005334.3(HCFC1):c.2178C>T (p.Thr726=)
|
|
|
NM_005334.3(HCFC1):c.219C>T (p.Ala73=)
|
|
|
NM_005334.3(HCFC1):c.21C>T (p.Pro7=)
|
|
|
NM_005334.3(HCFC1):c.2217G>A (p.Thr739=)
|
|
|
NM_005334.3(HCFC1):c.2235G>A (p.Gly745=)
|
|
|
NM_005334.3(HCFC1):c.2256C>A (p.Gly752=)
|
|
|
NM_005334.3(HCFC1):c.2265C>T (p.Ser755=)
|
|
|
NM_005334.3(HCFC1):c.228G>C (p.Gly76=)
|
|
|
NM_005334.3(HCFC1):c.2307C>A (p.Ile769=)
|
|
|
NM_005334.3(HCFC1):c.2325G>A (p.Ser775=)
|
|
|
NM_005334.3(HCFC1):c.2325G>C (p.Ser775=)
|
|
|
NM_005334.3(HCFC1):c.2337C>T (p.Thr779=)
|
|
|
NM_005334.3(HCFC1):c.2343G>A (p.Ala781=)
|
|
|
NM_005334.3(HCFC1):c.2353+15C>T
|
|
|
NM_005334.3(HCFC1):c.2353+16G>A
|
|
|
NM_005334.3(HCFC1):c.2353+19A>G
|
|
|
NM_005334.3(HCFC1):c.2353+20T>C
|
|
|
NM_005334.3(HCFC1):c.2354-10_2354-9del
|
|
|
NM_005334.3(HCFC1):c.2354-14A>G
|
|
|
NM_005334.3(HCFC1):c.2354-15C>T
|
|
|
NM_005334.3(HCFC1):c.2354-16C>G
|
|
|
NM_005334.3(HCFC1):c.2354-20G>A
|
|
|
NM_005334.3(HCFC1):c.237C>A (p.Pro79=)
|
rs782481466
|
|
NM_005334.3(HCFC1):c.2391C>T (p.Thr797=)
|
|
|
NM_005334.3(HCFC1):c.2445C>A (p.Ile815=)
|
|
|
NM_005334.3(HCFC1):c.2469T>G (p.Thr823=)
|
|
|
NM_005334.3(HCFC1):c.2472C>T (p.Gly824=)
|
|
|
NM_005334.3(HCFC1):c.2493C>A (p.Thr831=)
|
|
|
NM_005334.3(HCFC1):c.2496+12C>T
|
|
|
NM_005334.3(HCFC1):c.2496+14A>G
|
|
|
NM_005334.3(HCFC1):c.2496+17C>T
|
|
|
NM_005334.3(HCFC1):c.2496+20C>G
|
|
|
NM_005334.3(HCFC1):c.2496+7C>T
|
|
|
NM_005334.3(HCFC1):c.2497-16T>C
|
|
|
NM_005334.3(HCFC1):c.2497-17_2497-16del
|
|
|
NM_005334.3(HCFC1):c.2544T>G (p.Thr848=)
|
|
|
NM_005334.3(HCFC1):c.2547G>T (p.Val849=)
|
|
|
NM_005334.3(HCFC1):c.2556G>A (p.Gly852=)
|
|
|
NM_005334.3(HCFC1):c.255T>C (p.Tyr85=)
|
|
|
NM_005334.3(HCFC1):c.2565C>A (p.Arg855=)
|
|
|
NM_005334.3(HCFC1):c.2565C>G (p.Arg855=)
|
|
|
NM_005334.3(HCFC1):c.2586C>T (p.Val862=)
|
|
|
NM_005334.3(HCFC1):c.258C>T (p.Gly86=)
|
|
|
NM_005334.3(HCFC1):c.2605G>A (p.Val869Ile)
|
|
|
NM_005334.3(HCFC1):c.2607C>A (p.Val869=)
|
|
|
NM_005334.3(HCFC1):c.2635+10C>T
|
|
|
NM_005334.3(HCFC1):c.2635+12T>A
|
|
|
NM_005334.3(HCFC1):c.2635+15G>A
|
|
|
NM_005334.3(HCFC1):c.2635+9C>T
|
|
|
NM_005334.3(HCFC1):c.2636-10T>A
|
|
|
NM_005334.3(HCFC1):c.2636-14C>T
|
|
|
NM_005334.3(HCFC1):c.2636-15C>A
|
|
|
NM_005334.3(HCFC1):c.2636-18T>A
|
|
|
NM_005334.3(HCFC1):c.2649A>G (p.Leu883=)
|
|
|
NM_005334.3(HCFC1):c.2667C>A (p.Thr889=)
|
|
|
NM_005334.3(HCFC1):c.2673C>T (p.Ser891=)
|
|
|
NM_005334.3(HCFC1):c.2688G>C (p.Gly896=)
|
|
|
NM_005334.3(HCFC1):c.2696G>A (p.Gly899Asp)
|
|
|
NM_005334.3(HCFC1):c.2700C>T (p.His900=)
|
|
|
NM_005334.3(HCFC1):c.2715C>T (p.Ser905=)
|
|
|
NM_005334.3(HCFC1):c.2721C>T (p.Ala907=)
|
|
|
NM_005334.3(HCFC1):c.2724G>A (p.Thr908=)
|
|
|
NM_005334.3(HCFC1):c.2736C>T (p.Thr912=)
|
|
|
NM_005334.3(HCFC1):c.2745C>T (p.Thr915=)
|
|
|
NM_005334.3(HCFC1):c.2763C>T (p.Ser921=)
|
|
|
NM_005334.3(HCFC1):c.2784C>T (p.Ala928=)
|
|
|
NM_005334.3(HCFC1):c.2796G>A (p.Ser932=)
|
|
|
NM_005334.3(HCFC1):c.2811G>A (p.Thr937=)
|
|
|
NM_005334.3(HCFC1):c.2814G>A (p.Leu938=)
|
|
|
NM_005334.3(HCFC1):c.2817A>C (p.Thr939=)
|
|
|
NM_005334.3(HCFC1):c.2817A>T (p.Thr939=)
|
rs782349400
|
|
NM_005334.3(HCFC1):c.2856+17G>A
|
|
|
NM_005334.3(HCFC1):c.2856+8A>G
|
|
|
NM_005334.3(HCFC1):c.2857-13_2857-12insTCA
|
|
|
NM_005334.3(HCFC1):c.2857-18C>T
|
|
|
NM_005334.3(HCFC1):c.2857-20C>T
|
rs2148575650
|
|
NM_005334.3(HCFC1):c.2857-23CTC[2]
|
rs886044899
|
|
NM_005334.3(HCFC1):c.2857-8C>T
|
|
|
NM_005334.3(HCFC1):c.2859C>G (p.Pro953=)
|
|
|
NM_005334.3(HCFC1):c.2860G>A (p.Val954Met)
|
|
|
NM_005334.3(HCFC1):c.2898T>C (p.Pro966=)
|
|
|
NM_005334.3(HCFC1):c.2916G>A (p.Gln972=)
|
|
|
NM_005334.3(HCFC1):c.2931C>T (p.Leu977=)
|
|
|
NM_005334.3(HCFC1):c.2944C>T (p.Leu982=)
|
|
|
NM_005334.3(HCFC1):c.2952C>T (p.Ser984=)
|
|
|
NM_005334.3(HCFC1):c.2970C>T (p.Pro990=)
|
|
|
NM_005334.3(HCFC1):c.2972C>G (p.Thr991Ser)
|
|
|
NM_005334.3(HCFC1):c.2984C>G (p.Thr995Ser)
|
|
|
NM_005334.3(HCFC1):c.3018T>G (p.Pro1006=)
|
|
|
NM_005334.3(HCFC1):c.306G>A (p.Glu102=)
|
|
|
NM_005334.3(HCFC1):c.3084G>A (p.Thr1028=)
|
|
|
NM_005334.3(HCFC1):c.3147C>T (p.Val1049=)
|
|
|
NM_005334.3(HCFC1):c.3158A>G (p.Gln1053Arg)
|
|
|
NM_005334.3(HCFC1):c.3180G>T (p.Val1060=)
|
rs944235194
|
|
NM_005334.3(HCFC1):c.3186G>A (p.Ser1062=)
|
|
|
NM_005334.3(HCFC1):c.3201G>A (p.Gln1067=)
|
|
|
NM_005334.3(HCFC1):c.3216C>G (p.Val1072=)
|
|
|
NM_005334.3(HCFC1):c.3218G>A (p.Arg1073Gln)
|
|
|
NM_005334.3(HCFC1):c.3227C>T (p.Ser1076Leu)
|
|
|
NM_005334.3(HCFC1):c.323A>G (p.Asn108Ser)
|
|
|
NM_005334.3(HCFC1):c.3250G>A (p.Glu1084Lys)
|
|
|
NM_005334.3(HCFC1):c.3252G>A (p.Glu1084=)
|
|
|
NM_005334.3(HCFC1):c.3285C>T (p.Thr1095=)
|
|
|
NM_005334.3(HCFC1):c.3292A>G (p.Met1098Val)
|
|
|
NM_005334.3(HCFC1):c.3298G>A (p.Gly1100Arg)
|
|
|
NM_005334.3(HCFC1):c.3330G>A (p.Glu1110=)
|
|
|
NM_005334.3(HCFC1):c.3336C>T (p.His1112=)
|
|
|
NM_005334.3(HCFC1):c.3341C>T (p.Thr1114Met)
|
|
|
NM_005334.3(HCFC1):c.3369C>T (p.Ala1123=)
|
|
|
NM_005334.3(HCFC1):c.3374C>T (p.Ser1125Leu)
|
|
|
NM_005334.3(HCFC1):c.3375G>A (p.Ser1125=)
|
|
|
NM_005334.3(HCFC1):c.3378C>T (p.Ser1126=)
|
|
|
NM_005334.3(HCFC1):c.3384C>T (p.Gly1128=)
|
|
|
NM_005334.3(HCFC1):c.3389A>G (p.Asn1130Ser)
|
|
|
NM_005334.3(HCFC1):c.342+9G>A
|
|
|
NM_005334.3(HCFC1):c.343-10G>A
|
|
|
NM_005334.3(HCFC1):c.343-7T>G
|
|
|
NM_005334.3(HCFC1):c.343-8T>C
|
|
|
NM_005334.3(HCFC1):c.3435C>T (p.Ala1145=)
|
|
|
NM_005334.3(HCFC1):c.345G>A (p.Ala115=)
|
|
|
NM_005334.3(HCFC1):c.3465G>A (p.Ala1155=)
|
rs1053320929
|
|
NM_005334.3(HCFC1):c.3489G>A (p.Lys1163=)
|
|
|
NM_005334.3(HCFC1):c.3490T>A (p.Ser1164Thr)
|
|
|
NM_005334.3(HCFC1):c.3505C>T (p.Arg1169Cys)
|
|
|
NM_005334.3(HCFC1):c.3513C>T (p.Thr1171=)
|
|
|
NM_005334.3(HCFC1):c.3516C>T (p.Ser1172=)
|
|
|
NM_005334.3(HCFC1):c.3537T>A (p.Thr1179=)
|
|
|
NM_005334.3(HCFC1):c.3549C>T (p.Thr1183=)
|
|
|
NM_005334.3(HCFC1):c.357G>A (p.Glu119=)
|
|
|
NM_005334.3(HCFC1):c.3594A>G (p.Ala1198=)
|
|
|
NM_005334.3(HCFC1):c.3603C>A (p.Pro1201=)
|
rs782167598
|
|
NM_005334.3(HCFC1):c.3603C>T (p.Pro1201=)
|
|
|
NM_005334.3(HCFC1):c.3610C>T (p.Arg1204Cys)
|
|
|
NM_005334.3(HCFC1):c.3629A>G (p.Gln1210Arg)
|
|
|
NM_005334.3(HCFC1):c.3636C>T (p.Ala1212=)
|
rs1557114069
|
|
NM_005334.3(HCFC1):c.3639T>G (p.Pro1213=)
|
|
|
NM_005334.3(HCFC1):c.3650A>G (p.Lys1217Arg)
|
|
|
NM_005334.3(HCFC1):c.3658C>T (p.Leu1220=)
|
|
|
NM_005334.3(HCFC1):c.3708G>C (p.Ala1236=)
|
|
|
NM_005334.3(HCFC1):c.3708G>T (p.Ala1236=)
|
|
|
NM_005334.3(HCFC1):c.3714C>T (p.Ser1238=)
|
|
|
NM_005334.3(HCFC1):c.3719C>G (p.Ala1240Gly)
|
|
|
NM_005334.3(HCFC1):c.3719C>T (p.Ala1240Val)
|
|
|
NM_005334.3(HCFC1):c.3723C>T (p.Ala1241=)
|
|
|
NM_005334.3(HCFC1):c.3732T>C (p.Arg1244=)
|
|
|
NM_005334.3(HCFC1):c.3738C>T (p.Ser1246=)
|
|
|
NM_005334.3(HCFC1):c.3744T>A (p.Gly1248=)
|
|
|
NM_005334.3(HCFC1):c.3756C>A (p.Pro1252=)
|
|
|
NM_005334.3(HCFC1):c.3758G>T (p.Arg1253Leu)
|
|
|
NM_005334.3(HCFC1):c.3760A>G (p.Met1254Val)
|
|
|
NM_005334.3(HCFC1):c.3783C>T (p.Leu1261=)
|
|
|
NM_005334.3(HCFC1):c.3792C>T (p.Gly1264=)
|
|
|
NM_005334.3(HCFC1):c.3798C>T (p.Pro1266=)
|
|
|
NM_005334.3(HCFC1):c.381G>A (p.Thr127=)
|
|
|
NM_005334.3(HCFC1):c.3834G>A (p.Leu1278=)
|
|
|
NM_005334.3(HCFC1):c.3867C>G (p.Cys1289Trp)
|
|
|
NM_005334.3(HCFC1):c.3879A>G (p.Pro1293=)
|
|
|
NM_005334.3(HCFC1):c.3888C>T (p.Thr1296=)
|
|
|
NM_005334.3(HCFC1):c.3905C>T (p.Thr1302Ile)
|
|
|
NM_005334.3(HCFC1):c.3912C>T (p.Thr1304=)
|
|
|
NM_005334.3(HCFC1):c.3921C>T (p.Thr1307=)
|
|
|
NM_005334.3(HCFC1):c.3939C>T (p.Ala1313=)
|
|
|
NM_005334.3(HCFC1):c.3966C>T (p.Cys1322=)
|
|
|
NM_005334.3(HCFC1):c.3976G>A (p.Glu1326Lys)
|
|
|
NM_005334.3(HCFC1):c.3996G>A (p.Thr1332=)
|
|
|
NM_005334.3(HCFC1):c.4010C>T (p.Thr1337Ile)
|
|
|
NM_005334.3(HCFC1):c.402G>A (p.Pro134=)
|
|
|
NM_005334.3(HCFC1):c.4062T>C (p.Gly1354=)
|
|
|
NM_005334.3(HCFC1):c.4077A>G (p.Thr1359=)
|
|
|
NM_005334.3(HCFC1):c.4092C>G (p.Ser1364=)
|
|
|
NM_005334.3(HCFC1):c.4098C>A (p.Gly1366=)
|
|
|
NM_005334.3(HCFC1):c.4098C>T (p.Gly1366=)
|
|
|
NM_005334.3(HCFC1):c.4104C>T (p.Thr1368=)
|
|
|
NM_005334.3(HCFC1):c.4110G>A (p.Ser1370=)
|
|
|
NM_005334.3(HCFC1):c.411A>G (p.Arg137=)
|
|
|
NM_005334.3(HCFC1):c.4128G>T (p.Leu1376=)
|
|
|
NM_005334.3(HCFC1):c.4129C>T (p.Leu1377Phe)
|
|
|
NM_005334.3(HCFC1):c.4138G>A (p.Ala1380Thr)
|
|
|
NM_005334.3(HCFC1):c.4141A>G (p.Thr1381Ala)
|
|
|
NM_005334.3(HCFC1):c.4145C>T (p.Ser1382Phe)
|
|
|
NM_005334.3(HCFC1):c.414C>G (p.Leu138=)
|
|
|
NM_005334.3(HCFC1):c.414C>T (p.Leu138=)
|
|
|
NM_005334.3(HCFC1):c.4161G>C (p.Val1387=)
|
|
|
NM_005334.3(HCFC1):c.417G>A (p.Gly139=)
|
|
|
NM_005334.3(HCFC1):c.4188A>G (p.Ala1396=)
|
|
|
NM_005334.3(HCFC1):c.4200C>T (p.Thr1400=)
|
|
|
NM_005334.3(HCFC1):c.4203C>A (p.Pro1401=)
|
|
|
NM_005334.3(HCFC1):c.4203C>G (p.Pro1401=)
|
|
|
NM_005334.3(HCFC1):c.4215C>T (p.Thr1405=)
|
|
|
NM_005334.3(HCFC1):c.4217C>T (p.Ala1406Val)
|
|
|
NM_005334.3(HCFC1):c.4224G>A (p.Leu1408=)
|
|
|
NM_005334.3(HCFC1):c.4230T>G (p.Pro1410=)
|
|
|
NM_005334.3(HCFC1):c.4239A>C (p.Thr1413=)
|
|
|
NM_005334.3(HCFC1):c.423C>T (p.Ser141=)
|
|
|
NM_005334.3(HCFC1):c.4260C>G (p.Pro1420=)
|
rs782771916
|
|
NM_005334.3(HCFC1):c.4263C>G (p.Pro1421=)
|
|
|
NM_005334.3(HCFC1):c.426C>T (p.Phe142=)
|
|
|
NM_005334.3(HCFC1):c.4272C>G (p.Thr1424=)
|
|
|
NM_005334.3(HCFC1):c.4281G>A (p.Thr1427=)
|
|
|
NM_005334.3(HCFC1):c.4284C>T (p.Gly1428=)
|
|
|
NM_005334.3(HCFC1):c.4293C>T (p.His1431=)
|
|
|
NM_005334.3(HCFC1):c.4299C>T (p.Ala1433=)
|
|
|
NM_005334.3(HCFC1):c.4308C>T (p.Val1436=)
|
rs2148568710
|
|
NM_005334.3(HCFC1):c.432T>C (p.Leu144=)
|
|
|
NM_005334.3(HCFC1):c.4333+9A>G
|
|
|
NM_005334.3(HCFC1):c.4334-10_4334-9insGCC
|
|
|
NM_005334.3(HCFC1):c.4334-11C>G
|
|
|
NM_005334.3(HCFC1):c.4334-13G>A
|
|
|
NM_005334.3(HCFC1):c.4334-15C>T
|
|
|
NM_005334.3(HCFC1):c.4334-16C>T
|
|
|
NM_005334.3(HCFC1):c.4334-18_4334-8dup
|
|
|
NM_005334.3(HCFC1):c.4334-20C>A
|
|
|
NM_005334.3(HCFC1):c.435G>C (p.Val145=)
|
|
|
NM_005334.3(HCFC1):c.4373G>A (p.Ser1458Asn)
|
|
|
NM_005334.3(HCFC1):c.4383C>T (p.Gly1461=)
|
|
|
NM_005334.3(HCFC1):c.4386C>T (p.Asp1462=)
|
|
|
NM_005334.3(HCFC1):c.4390G>A (p.Val1464Met)
|
|
|
NM_005334.3(HCFC1):c.4413C>T (p.Ala1471=)
|
|
|
NM_005334.3(HCFC1):c.4430C>G (p.Ser1477Cys)
|
|
|
NM_005334.3(HCFC1):c.4443G>A (p.Thr1481=)
|
|
|
NM_005334.3(HCFC1):c.4455C>T (p.Thr1485=)
|
|
|
NM_005334.3(HCFC1):c.4458C>G (p.Thr1486=)
|
|
|
NM_005334.3(HCFC1):c.4458C>T (p.Thr1486=)
|
|
|
NM_005334.3(HCFC1):c.4482G>A (p.Pro1494=)
|
|
|
NM_005334.3(HCFC1):c.4482G>C (p.Pro1494=)
|
|
|
NM_005334.3(HCFC1):c.4497+16G>A
|
|
|
NM_005334.3(HCFC1):c.4497+16G>T
|
|
|
NM_005334.3(HCFC1):c.4497+18C>T
|
|
|
NM_005334.3(HCFC1):c.4497+19G>A
|
|
|
NM_005334.3(HCFC1):c.4497+9C>T
|
|
|
NM_005334.3(HCFC1):c.4498-12G>T
|
|
|
NM_005334.3(HCFC1):c.4498-20C>T
|
|
|
NM_005334.3(HCFC1):c.4498-6C>T
|
|
|
NM_005334.3(HCFC1):c.4503A>G (p.Pro1501=)
|
|
|
NM_005334.3(HCFC1):c.4506G>A (p.Glu1502=)
|
|
|
NM_005334.3(HCFC1):c.4521G>A (p.Ser1507=)
|
|
|
NM_005334.3(HCFC1):c.4521G>C (p.Ser1507=)
|
|
|
NM_005334.3(HCFC1):c.4521G>T (p.Ser1507=)
|
|
|
NM_005334.3(HCFC1):c.4524A>G (p.Pro1508=)
|
|
|
NM_005334.3(HCFC1):c.4527T>A (p.Gly1509=)
|
|
|
NM_005334.3(HCFC1):c.4533C>T (p.Arg1511=)
|
|
|
NM_005334.3(HCFC1):c.453G>C (p.Leu151=)
|
|
|
NM_005334.3(HCFC1):c.4540C>T (p.Leu1514=)
|
|
|
NM_005334.3(HCFC1):c.4545G>C (p.Pro1515=)
|
|
|
NM_005334.3(HCFC1):c.4548A>T (p.Pro1516=)
|
rs2065328379
|
|
NM_005334.3(HCFC1):c.4572C>T (p.Ser1524=)
|
|
|
NM_005334.3(HCFC1):c.4575A>G (p.Thr1525=)
|
|
|
NM_005334.3(HCFC1):c.4593C>T (p.Ser1531=)
|
|
|
NM_005334.3(HCFC1):c.4611C>T (p.Ala1537=)
|
|
|
NM_005334.3(HCFC1):c.4620C>A (p.Thr1540=)
|
|
|
NM_005334.3(HCFC1):c.4632G>T (p.Pro1544=)
|
|
|
NM_005334.3(HCFC1):c.4635C>G (p.Ala1545=)
|
|
|
NM_005334.3(HCFC1):c.4635C>T (p.Ala1545=)
|
|
|
NM_005334.3(HCFC1):c.4639G>A (p.Val1547Met)
|
|
|
NM_005334.3(HCFC1):c.463C>T (p.Leu155=)
|
|
|
NM_005334.3(HCFC1):c.465G>A (p.Leu155=)
|
|
|
NM_005334.3(HCFC1):c.4665A>G (p.Pro1555=)
|
|
|
NM_005334.3(HCFC1):c.4670C>T (p.Ser1557Leu)
|
|
|
NM_005334.3(HCFC1):c.4695G>A (p.Ala1565=)
|
|
|
NM_005334.3(HCFC1):c.4698G>A (p.Val1566=)
|
|
|
NM_005334.3(HCFC1):c.4716C>G (p.Val1572=)
|
|
|
NM_005334.3(HCFC1):c.4734A>G (p.Thr1578=)
|
|
|
NM_005334.3(HCFC1):c.4740C>G (p.Ser1580=)
|
|
|
NM_005334.3(HCFC1):c.4741G>C (p.Glu1581Gln)
|
|
|
NM_005334.3(HCFC1):c.4752G>A (p.Gln1584=)
|
|
|
NM_005334.3(HCFC1):c.4755A>G (p.Leu1585=)
|
|
|
NM_005334.3(HCFC1):c.4779C>T (p.Ala1593=)
|
|
|
NM_005334.3(HCFC1):c.4785C>G (p.Ala1595=)
|
|
|
NM_005334.3(HCFC1):c.4812A>G (p.Val1604=)
|
|
|
NM_005334.3(HCFC1):c.4821C>T (p.Leu1607=)
|
|
|
NM_005334.3(HCFC1):c.4827C>T (p.Pro1609=)
|
|
|
NM_005334.3(HCFC1):c.4845G>A (p.Thr1615=)
|
|
|
NM_005334.3(HCFC1):c.4872C>T (p.Ala1624=)
|
|
|
NM_005334.3(HCFC1):c.4926G>A (p.Ala1642=)
|
rs1557112897
|
|
NM_005334.3(HCFC1):c.4942+17C>A
|
|
|
NM_005334.3(HCFC1):c.4942+17C>T
|
|
|
NM_005334.3(HCFC1):c.4942+20T>C
|
|
|
NM_005334.3(HCFC1):c.4942+20T>G
|
|
|
NM_005334.3(HCFC1):c.4942+7G>A
|
|
|
NM_005334.3(HCFC1):c.4943-11C>A
|
|
|
NM_005334.3(HCFC1):c.4943-14C>T
|
|
|
NM_005334.3(HCFC1):c.4943-16C>T
|
|
|
NM_005334.3(HCFC1):c.4943-18C>A
|
|
|
NM_005334.3(HCFC1):c.4943-18C>T
|
|
|
NM_005334.3(HCFC1):c.4943-20T>C
|
|
|
NM_005334.3(HCFC1):c.4950C>T (p.Gly1650=)
|
|
|
NM_005334.3(HCFC1):c.4953G>A (p.Glu1651=)
|
|
|
NM_005334.3(HCFC1):c.4955C>T (p.Pro1652Leu)
|
|
|
NM_005334.3(HCFC1):c.4962C>T (p.Asp1654=)
|
|
|
NM_005334.3(HCFC1):c.4965C>T (p.Thr1655=)
|
|
|
NM_005334.3(HCFC1):c.4974A>G (p.Ala1658=)
|
|
|
NM_005334.3(HCFC1):c.5008C>T (p.Leu1670=)
|
|
|
NM_005334.3(HCFC1):c.5013G>A (p.Ser1671=)
|
|
|
NM_005334.3(HCFC1):c.5016C>T (p.Ala1672=)
|
|
|
NM_005334.3(HCFC1):c.503+10G>A
|
|
|
NM_005334.3(HCFC1):c.503+8T>G
|
|
|
NM_005334.3(HCFC1):c.5038A>G (p.Thr1680Ala)
|
|
|
NM_005334.3(HCFC1):c.504-13C>A
|
|
|
NM_005334.3(HCFC1):c.504-16G>C
|
|
|
NM_005334.3(HCFC1):c.5040C>G (p.Thr1680=)
|
|
|
NM_005334.3(HCFC1):c.5040C>T (p.Thr1680=)
|
|
|
NM_005334.3(HCFC1):c.5076T>G (p.Ala1692=)
|
rs2148561246
|
|
NM_005334.3(HCFC1):c.5088G>A (p.Gln1696=)
|
|
|
NM_005334.3(HCFC1):c.5121G>A (p.Gln1707=)
|
|
|
NM_005334.3(HCFC1):c.5130C>T (p.His1710=)
|
|
|
NM_005334.3(HCFC1):c.513T>C (p.Asn171=)
|
|
|
NM_005334.3(HCFC1):c.5148C>T (p.Ala1716=)
|
|
|
NM_005334.3(HCFC1):c.5169C>T (p.Leu1723=)
|
|
|
NM_005334.3(HCFC1):c.5184T>A (p.Ile1728=)
|
|
|
NM_005334.3(HCFC1):c.5196C>T (p.Cys1732=)
|
|
|
NM_005334.3(HCFC1):c.5208G>A (p.Leu1736=)
|
|
|
NM_005334.3(HCFC1):c.520T>C (p.Tyr174His)
|
|
|
NM_005334.3(HCFC1):c.5214C>A (p.Gly1738=)
|
|
|
NM_005334.3(HCFC1):c.5223C>T (p.Pro1741=)
|
|
|
NM_005334.3(HCFC1):c.5226C>T (p.Ser1742=)
|
|
|
NM_005334.3(HCFC1):c.5229T>C (p.Thr1743=)
|
|
|
NM_005334.3(HCFC1):c.5232G>A (p.Val1744=)
|
|
|
NM_005334.3(HCFC1):c.5234C>T (p.Ala1745Val)
|
|
|
NM_005334.3(HCFC1):c.5235G>A (p.Ala1745=)
|
|
|
NM_005334.3(HCFC1):c.5260+17G>A
|
|
|
NM_005334.3(HCFC1):c.5260+7G>A
|
|
|
NM_005334.3(HCFC1):c.5261-12C>T
|
|
|
NM_005334.3(HCFC1):c.5261-12_5261-10del
|
|
|
NM_005334.3(HCFC1):c.5261-15C>T
|
|
|
NM_005334.3(HCFC1):c.5261-4C>T
|
|
|
NM_005334.3(HCFC1):c.5261-8C>G
|
|
|
NM_005334.3(HCFC1):c.5261-9_5261-6del
|
|
|
NM_005334.3(HCFC1):c.5267C>T (p.Ala1756Val)
|
|
|
NM_005334.3(HCFC1):c.526C>T (p.Leu176=)
|
|
|
NM_005334.3(HCFC1):c.5277C>T (p.Asn1759=)
|
|
|
NM_005334.3(HCFC1):c.5280A>G (p.Thr1760=)
|
|
|
NM_005334.3(HCFC1):c.5289C>T (p.Ala1763=)
|
rs2148560027
|
|
NM_005334.3(HCFC1):c.5313C>T (p.Ser1771=)
|
|
|
NM_005334.3(HCFC1):c.5328G>C (p.Gln1776His)
|
|
|
NM_005334.3(HCFC1):c.5340C>A (p.Thr1780=)
|
rs1057521778
|
|
NM_005334.3(HCFC1):c.5346C>G (p.Thr1782=)
|
|
|
NM_005334.3(HCFC1):c.5346C>T (p.Thr1782=)
|
|
|
NM_005334.3(HCFC1):c.5370C>T (p.Ser1790=)
|
rs1220039024
|
|
NM_005334.3(HCFC1):c.5379+10del
|
|
|
NM_005334.3(HCFC1):c.5379+15T>C
|
|
|
NM_005334.3(HCFC1):c.5379+7C>T
|
|
|
NM_005334.3(HCFC1):c.5380-13T>C
|
|
|
NM_005334.3(HCFC1):c.5380-15G>A
|
|
|
NM_005334.3(HCFC1):c.5380-16C>T
|
|
|
NM_005334.3(HCFC1):c.5380-19C>T
|
|
|
NM_005334.3(HCFC1):c.5380-7C>T
|
|
|
NM_005334.3(HCFC1):c.5380-8T>A
|
|
|
NM_005334.3(HCFC1):c.5388C>G (p.Asp1796Glu)
|
|
|
NM_005334.3(HCFC1):c.5397C>G (p.Pro1799=)
|
|
|
NM_005334.3(HCFC1):c.5403C>A (p.Pro1801=)
|
|
|
NM_005334.3(HCFC1):c.5406C>T (p.Ser1802=)
|
|
|
NM_005334.3(HCFC1):c.543C>T (p.Gly181=)
|
|
|
NM_005334.3(HCFC1):c.5454T>C (p.Ile1818=)
|
|
|
NM_005334.3(HCFC1):c.5460C>T (p.Gly1820=)
|
|
|
NM_005334.3(HCFC1):c.5481C>T (p.His1827=)
|
|
|
NM_005334.3(HCFC1):c.5487C>T (p.Phe1829=)
|
|
|
NM_005334.3(HCFC1):c.5505T>C (p.Ala1835=)
|
|
|
NM_005334.3(HCFC1):c.5517+10C>G
|
|
|
NM_005334.3(HCFC1):c.5518-10C>T
|
|
|
NM_005334.3(HCFC1):c.5518-18C>T
|
|
|
NM_005334.3(HCFC1):c.5532C>G (p.Thr1844=)
|
|
|
NM_005334.3(HCFC1):c.5532C>T (p.Thr1844=)
|
|
|
NM_005334.3(HCFC1):c.5537C>T (p.Pro1846Leu)
|
|
|
NM_005334.3(HCFC1):c.5553G>A (p.Leu1851=)
|
|
|
NM_005334.3(HCFC1):c.5565G>A (p.Glu1855=)
|
|
|
NM_005334.3(HCFC1):c.5568G>A (p.Leu1856=)
|
|
|
NM_005334.3(HCFC1):c.5577C>G (p.Gly1859=)
|
|
|
NM_005334.3(HCFC1):c.5604A>C (p.Gly1868=)
|
|
|
NM_005334.3(HCFC1):c.5646C>T (p.Ala1882=)
|
|
|
NM_005334.3(HCFC1):c.5682T>G (p.Pro1894=)
|
|
|
NM_005334.3(HCFC1):c.5703+11C>T
|
|
|
NM_005334.3(HCFC1):c.5703+14T>G
|
|
|
NM_005334.3(HCFC1):c.5703+19T>C
|
|
|
NM_005334.3(HCFC1):c.5704-11C>G
|
|
|
NM_005334.3(HCFC1):c.5704-11C>T
|
|
|
NM_005334.3(HCFC1):c.5704-13C>T
|
|
|
NM_005334.3(HCFC1):c.5704-14C>A
|
|
|
NM_005334.3(HCFC1):c.5704-15C>A
|
|
|
NM_005334.3(HCFC1):c.5704-20_5704-18del
|
|
|
NM_005334.3(HCFC1):c.5709G>A (p.Pro1903=)
|
|
|
NM_005334.3(HCFC1):c.5718T>C (p.Ala1906=)
|
|
|
NM_005334.3(HCFC1):c.5726C>G (p.Thr1909Ser)
|
|
|
NM_005334.3(HCFC1):c.5727C>T (p.Thr1909=)
|
|
|
NM_005334.3(HCFC1):c.5748C>T (p.Thr1916=)
|
|
|
NM_005334.3(HCFC1):c.5763C>T (p.Ile1921=)
|
|
|
NM_005334.3(HCFC1):c.5772C>G (p.Ser1924=)
|
rs782090098
|
|
NM_005334.3(HCFC1):c.5802T>C (p.Ala1934=)
|
|
|
NM_005334.3(HCFC1):c.5808C>G (p.Gly1936=)
|
|
|
NM_005334.3(HCFC1):c.5819_5839dup (p.Leu1946_Ala1947insGlySerThrProAlaGlnLeu)
|
|
|
NM_005334.3(HCFC1):c.5823C>G (p.Ser1941=)
|
rs1000069168
|
|
NM_005334.3(HCFC1):c.5829G>C (p.Pro1943=)
|
|
|
NM_005334.3(HCFC1):c.5856C>T (p.Tyr1952=)
|
|
|
NM_005334.3(HCFC1):c.588A>G (p.Leu196=)
|
|
|
NM_005334.3(HCFC1):c.5898T>G (p.Leu1966=)
|
|
|
NM_005334.3(HCFC1):c.5913C>T (p.Ile1971=)
|
|
|
NM_005334.3(HCFC1):c.5931C>A (p.Pro1977=)
|
|
|
NM_005334.3(HCFC1):c.5931C>T (p.Pro1977=)
|
|
|
NM_005334.3(HCFC1):c.5934C>T (p.Ala1978=)
|
|
|
NM_005334.3(HCFC1):c.5943C>T (p.Phe1981=)
|
|
|
NM_005334.3(HCFC1):c.5955C>T (p.Ala1985=)
|
|
|
NM_005334.3(HCFC1):c.5961T>C (p.Asn1987=)
|
|
|
NM_005334.3(HCFC1):c.5979G>A (p.Pro1993=)
|
|
|
NM_005334.3(HCFC1):c.5985A>G (p.Thr1995=)
|
|
|
NM_005334.3(HCFC1):c.6004+10C>G
|
|
|
NM_005334.3(HCFC1):c.6004+13C>T
|
|
|
NM_005334.3(HCFC1):c.6004+16G>A
|
|
|
NM_005334.3(HCFC1):c.6005-11G>A
|
|
|
NM_005334.3(HCFC1):c.6005-13C>A
|
|
|
NM_005334.3(HCFC1):c.6005-13C>T
|
|
|
NM_005334.3(HCFC1):c.6005-16C>T
|
|
|
NM_005334.3(HCFC1):c.6005-5T>A
|
|
|
NM_005334.3(HCFC1):c.6005-6T>C
|
|
|
NM_005334.3(HCFC1):c.6009C>T (p.Thr2003=)
|
rs1715955651
|
|
NM_005334.3(HCFC1):c.6039C>G (p.Ala2013=)
|
|
|
NM_005334.3(HCFC1):c.6051C>T (p.Pro2017=)
|
|
|
NM_005334.3(HCFC1):c.6068+11A>G
|
|
|
NM_005334.3(HCFC1):c.6068+13C>G
|
rs2148553916
|
|
NM_005334.3(HCFC1):c.6068+14C>T
|
|
|
NM_005334.3(HCFC1):c.6068+15C>G
|
|
|
NM_005334.3(HCFC1):c.6068+19T>C
|
|
|
NM_005334.3(HCFC1):c.6090T>C (p.Ser2030=)
|
|
|
NM_005334.3(HCFC1):c.609T>C (p.His203=)
|
|
|
NM_005334.3(HCFC1):c.615C>T (p.Ala205=)
|
|
|
NM_005334.3(HCFC1):c.627C>T (p.Thr209=)
|
|
|
NM_005334.3(HCFC1):c.636C>T (p.Asp212=)
|
|
|
NM_005334.3(HCFC1):c.648C>T (p.Ser216=)
|
|
|
NM_005334.3(HCFC1):c.663C>T (p.Tyr221=)
|
|
|
NM_005334.3(HCFC1):c.666C>T (p.Gly222=)
|
|
|
NM_005334.3(HCFC1):c.69G>A (p.Val23=)
|
|
|
NM_005334.3(HCFC1):c.702C>T (p.Thr234=)
|
|
|
NM_005334.3(HCFC1):c.712+11T>A
|
|
|
NM_005334.3(HCFC1):c.712+13G>T
|
|
|
NM_005334.3(HCFC1):c.712+9GGT[3]
|
|
|
NM_005334.3(HCFC1):c.713-10CT[2]
|
|
|
NM_005334.3(HCFC1):c.713-17C>T
|
|
|
NM_005334.3(HCFC1):c.714C>T (p.Asp238=)
|
|
|
NM_005334.3(HCFC1):c.723G>A (p.Thr241=)
|
|
|
NM_005334.3(HCFC1):c.735C>G (p.Pro245=)
|
|
|
NM_005334.3(HCFC1):c.741C>T (p.Leu247=)
|
|
|
NM_005334.3(HCFC1):c.744C>T (p.Ser248=)
|
|
|
NM_005334.3(HCFC1):c.789C>T (p.Ile263=)
|
|
|
NM_005334.3(HCFC1):c.797+13T>A
|
|
|
NM_005334.3(HCFC1):c.797+15A>C
|
|
|
NM_005334.3(HCFC1):c.797+20C>T
|
|
|
NM_005334.3(HCFC1):c.797+9C>G
|
|
|
NM_005334.3(HCFC1):c.797+9C>T
|
|
|
NM_005334.3(HCFC1):c.798-11C>T
|
|
|
NM_005334.3(HCFC1):c.798-11_798-9del
|
|
|
NM_005334.3(HCFC1):c.798-15C>T
|
|
|
NM_005334.3(HCFC1):c.798-5C>T
|
|
|
NM_005334.3(HCFC1):c.798-9C>T
|
|
|
NM_005334.3(HCFC1):c.84G>A (p.Pro28=)
|
|
|
NM_005334.3(HCFC1):c.87G>A (p.Val29=)
|
|
|
NM_005334.3(HCFC1):c.885G>A (p.Thr295=)
|
|
|
NM_005334.3(HCFC1):c.8C>T (p.Ser3Leu)
|
|
|
NM_005334.3(HCFC1):c.904+10C>T
|
|
|
NM_005334.3(HCFC1):c.904+13C>T
|
|
|
NM_005334.3(HCFC1):c.904+16G>A
|
|
|
NM_005334.3(HCFC1):c.904+20C>T
|
|
|
NM_005334.3(HCFC1):c.905-9C>T
|
|
|
NM_005334.3(HCFC1):c.90A>C (p.Pro30=)
|
|
|
NM_005334.3(HCFC1):c.927C>T (p.Ile309=)
|
|
|
NM_005334.3(HCFC1):c.939A>G (p.Thr313=)
|
|
|
NM_005334.3(HCFC1):c.942G>A (p.Leu314=)
|
|
|
NM_005334.3(HCFC1):c.948C>T (p.Asp316=)
|
|
|
NM_005334.3(HCFC1):c.954C>A (p.Ile318=)
|
|
|
NM_005334.3(HCFC1):c.99C>T (p.Arg33=)
|
|
|
NM_006363.6(SEC23B):c.1020A>G (p.Thr340=)
|
|
|
NM_006363.6(SEC23B):c.1029T>C (p.Asn343=)
|
|
|
NM_006363.6(SEC23B):c.1044T>C (p.Asp348=)
|
|
|
NM_006363.6(SEC23B):c.1053T>C (p.Ala351=)
|
|
|
NM_006363.6(SEC23B):c.105T>C (p.Val35=)
|
|
|
NM_006363.6(SEC23B):c.1068A>G (p.Gln356=)
|
|
|
NM_006363.6(SEC23B):c.1071T>C (p.Thr357=)
|
|
|
NM_006363.6(SEC23B):c.1078T>C (p.Leu360=)
|
|
|
NM_006363.6(SEC23B):c.1107T>A (p.Thr369=)
|
|
|
NM_006363.6(SEC23B):c.1109+10C>G
|
|
|
NM_006363.6(SEC23B):c.1109+11A>C
|
|
|
NM_006363.6(SEC23B):c.1109+19C>A
|
|
|
NM_006363.6(SEC23B):c.1109+7T>C
|
|
|
NM_006363.6(SEC23B):c.1110-20A>T
|
|
|
NM_006363.6(SEC23B):c.1144T>A (p.Ser382Thr)
|
|
|
NM_006363.6(SEC23B):c.1179T>C (p.Thr393=)
|
|
|
NM_006363.6(SEC23B):c.117T>C (p.Ala39=)
|
|
|
NM_006363.6(SEC23B):c.1191T>C (p.Asn397=)
|
|
|
NM_006363.6(SEC23B):c.1222T>C (p.Leu408=)
|
|
|
NM_006363.6(SEC23B):c.1227C>T (p.Asp409=)
|
|
|
NM_006363.6(SEC23B):c.1233+10A>C
|
|
|
NM_006363.6(SEC23B):c.1233+12T>A
|
|
|
NM_006363.6(SEC23B):c.1233+15T>A
|
|
|
NM_006363.6(SEC23B):c.1233+8_1233+9insG
|
|
|
NM_006363.6(SEC23B):c.1234-13A>C
|
|
|
NM_006363.6(SEC23B):c.1234-13A>G
|
|
|
NM_006363.6(SEC23B):c.1234-13A>T
|
|
|
NM_006363.6(SEC23B):c.1234-14_1234-13del
|
rs765849514
|
|
NM_006363.6(SEC23B):c.1234-16C>A
|
|
|
NM_006363.6(SEC23B):c.1234-18G>A
|
|
|
NM_006363.6(SEC23B):c.1234-20C>T
|
|
|
NM_006363.6(SEC23B):c.1242G>A (p.Arg414=)
|
|
|
NM_006363.6(SEC23B):c.1275C>T (p.Cys425=)
|
|
|
NM_006363.6(SEC23B):c.1314+12A>T
|
|
|
NM_006363.6(SEC23B):c.1314+16C>T
|
|
|
NM_006363.6(SEC23B):c.1314+18A>G
|
|
|
NM_006363.6(SEC23B):c.1315-16C>T
|
|
|
NM_006363.6(SEC23B):c.1315-4C>G
|
|
|
NM_006363.6(SEC23B):c.1315-5C>T
|
|
|
NM_006363.6(SEC23B):c.1315-6C>T
|
|
|
NM_006363.6(SEC23B):c.1315-7C>T
|
|
|
NM_006363.6(SEC23B):c.1315-8A>G
|
|
|
NM_006363.6(SEC23B):c.1326T>C (p.Val442=)
|
|
|
NM_006363.6(SEC23B):c.1332C>T (p.Gly444=)
|
|
|
NM_006363.6(SEC23B):c.1335G>T (p.Thr445=)
|
|
|
NM_006363.6(SEC23B):c.1341G>A (p.Gln447=)
|
|
|
NM_006363.6(SEC23B):c.1347A>G (p.Lys449=)
|
|
|
NM_006363.6(SEC23B):c.1374A>C (p.Thr458=)
|
|
|
NM_006363.6(SEC23B):c.1401T>C (p.Asn467=)
|
|
|
NM_006363.6(SEC23B):c.1404+17C>T
|
|
|
NM_006363.6(SEC23B):c.1404+20A>G
|
|
|
NM_006363.6(SEC23B):c.1405-15C>T
|
|
|
NM_006363.6(SEC23B):c.1416G>A (p.Pro472=)
|
|
|
NM_006363.6(SEC23B):c.1416G>C (p.Pro472=)
|
rs748683808
|
|
NM_006363.6(SEC23B):c.1422C>T (p.Pro474=)
|
|
|
NM_006363.6(SEC23B):c.1425A>G (p.Gln475=)
|
|
|
NM_006363.6(SEC23B):c.1443C>T (p.Ile481=)
|
|
|
NM_006363.6(SEC23B):c.1455G>A (p.Thr485=)
|
|
|
NM_006363.6(SEC23B):c.1455G>C (p.Thr485=)
|
|
|
NM_006363.6(SEC23B):c.1479G>A (p.Gln493=)
|
|
|
NM_006363.6(SEC23B):c.1485C>T (p.Arg495=)
|
|
|
NM_006363.6(SEC23B):c.1506C>G (p.Ala502=)
|
|
|
NM_006363.6(SEC23B):c.1511+18C>T
|
|
|
NM_006363.6(SEC23B):c.1511+21_1511+24del
|
|
|
NM_006363.6(SEC23B):c.1512-11G>A
|
|
|
NM_006363.6(SEC23B):c.1512-19C>A
|
|
|
NM_006363.6(SEC23B):c.1512-5G>A
|
|
|
NM_006363.6(SEC23B):c.1512-7T>C
|
|
|
NM_006363.6(SEC23B):c.1521T>C (p.Asp507=)
|
|
|
NM_006363.6(SEC23B):c.1536C>A (p.Leu512=)
|
|
|
NM_006363.6(SEC23B):c.1539G>A (p.Arg513=)
|
|
|
NM_006363.6(SEC23B):c.153A>T (p.Leu51=)
|
|
|
NM_006363.6(SEC23B):c.1563G>A (p.Gln521=)
|
|
|
NM_006363.6(SEC23B):c.1578G>A (p.Val526=)
|
|
|
NM_006363.6(SEC23B):c.1596G>C (p.Gly532=)
|
|
|
NM_006363.6(SEC23B):c.1608G>A (p.Ala536=)
|
|
|
NM_006363.6(SEC23B):c.1611G>A (p.Glu537=)
|
|
|
NM_006363.6(SEC23B):c.1626C>G (p.Pro542=)
|
|
|
NM_006363.6(SEC23B):c.1626C>T (p.Pro542=)
|
|
|
NM_006363.6(SEC23B):c.162A>G (p.Val54=)
|
|
|
NM_006363.6(SEC23B):c.1632G>C (p.Val544=)
|
|
|
NM_006363.6(SEC23B):c.1638G>A (p.Arg546=)
|
rs138623580
|
|
NM_006363.6(SEC23B):c.1638G>C (p.Arg546=)
|
|
|
NM_006363.6(SEC23B):c.1653A>G (p.Gln551=)
|
|
|
NM_006363.6(SEC23B):c.1656C>T (p.Leu552=)
|
|
|
NM_006363.6(SEC23B):c.165A>G (p.Gln55=)
|
|
|
NM_006363.6(SEC23B):c.1660C>A (p.Arg554=)
|
|
|
NM_006363.6(SEC23B):c.1665+14A>G
|
|
|
NM_006363.6(SEC23B):c.1665+17G>A
|
|
|
NM_006363.6(SEC23B):c.1665+20A>T
|
|
|
NM_006363.6(SEC23B):c.1666-16T>G
|
|
|
NM_006363.6(SEC23B):c.1677T>C (p.Phe559=)
|
|
|
NM_006363.6(SEC23B):c.1680A>G (p.Gly560=)
|
|
|
NM_006363.6(SEC23B):c.1686T>C (p.Tyr562=)
|
|
|
NM_006363.6(SEC23B):c.1713G>A (p.Arg571=)
|
|
|
NM_006363.6(SEC23B):c.1719A>G (p.Ser573=)
|
|
|
NM_006363.6(SEC23B):c.1734A>G (p.Leu578=)
|
|
|
NM_006363.6(SEC23B):c.1743+20A>G
|
|
|
NM_006363.6(SEC23B):c.1744-10G>C
|
|
|
NM_006363.6(SEC23B):c.1744-14del
|
|
|
NM_006363.6(SEC23B):c.1744-16T>C
|
|
|
NM_006363.6(SEC23B):c.1744-18C>T
|
|
|
NM_006363.6(SEC23B):c.1753C>T (p.His585Tyr)
|
|
|
NM_006363.6(SEC23B):c.1764A>G (p.Arg588=)
|
|
|
NM_006363.6(SEC23B):c.1803G>A (p.Glu601=)
|
|
|
NM_006363.6(SEC23B):c.1806G>A (p.Ser602=)
|
|
|
NM_006363.6(SEC23B):c.1816A>C (p.Arg606=)
|
|
|
NM_006363.6(SEC23B):c.1818A>G (p.Arg606=)
|
|
|
NM_006363.6(SEC23B):c.183C>T (p.Cys61=)
|
|
|
NM_006363.6(SEC23B):c.1840C>T (p.Leu614=)
|
|
|
NM_006363.6(SEC23B):c.1866G>A (p.Gln622=)
|
|
|
NM_006363.6(SEC23B):c.1875C>G (p.Leu625=)
|
|
|
NM_006363.6(SEC23B):c.1881T>A (p.Ser627=)
|
|
|
NM_006363.6(SEC23B):c.1905+10dup
|
|
|
NM_006363.6(SEC23B):c.1905+12C>T
|
|
|
NM_006363.6(SEC23B):c.1905+16A>G
|
|
|
NM_006363.6(SEC23B):c.1905+8T>C
|
|
|
NM_006363.6(SEC23B):c.1905+8T>G
|
|
|
NM_006363.6(SEC23B):c.1905+9C>A
|
|
|
NM_006363.6(SEC23B):c.1906-11T>C
|
|
|
NM_006363.6(SEC23B):c.1906-12_1906-9del
|
|
|
NM_006363.6(SEC23B):c.1906-18C>G
|
|
|
NM_006363.6(SEC23B):c.1906-18C>T
|
|
|
NM_006363.6(SEC23B):c.1906-18_1906-14del
|
|
|
NM_006363.6(SEC23B):c.1906-19TC[2]
|
|
|
NM_006363.6(SEC23B):c.1906-19TC[3]
|
|
|
NM_006363.6(SEC23B):c.1906-7T>C
|
|
|
NM_006363.6(SEC23B):c.1906-8_1906-7del
|
|
|
NM_006363.6(SEC23B):c.1932T>C (p.Ile644=)
|
|
|
NM_006363.6(SEC23B):c.195T>C (p.Thr65=)
|
|
|
NM_006363.6(SEC23B):c.1962T>G (p.Thr654=)
|
|
|
NM_006363.6(SEC23B):c.1992+14ATTA[2]
|
|
|
NM_006363.6(SEC23B):c.1992+15_1992+17del
|
|
|
NM_006363.6(SEC23B):c.1992+17A>G
|
|
|
NM_006363.6(SEC23B):c.1992+8G>A
|
|
|
NM_006363.6(SEC23B):c.1992+8_1992+10del
|
|
|
NM_006363.6(SEC23B):c.1993-18T>C
|
|
|
NM_006363.6(SEC23B):c.1993-20G>A
|
|
|
NM_006363.6(SEC23B):c.1993-6G>C
|
|
|
NM_006363.6(SEC23B):c.1993-7T>C
|
|
|
NM_006363.6(SEC23B):c.2001C>T (p.Ala667=)
|
|
|
NM_006363.6(SEC23B):c.2034C>T (p.Pro678=)
|
|
|
NM_006363.6(SEC23B):c.2040T>C (p.Tyr680=)
|
|
|
NM_006363.6(SEC23B):c.2055C>T (p.His685=)
|
|
|
NM_006363.6(SEC23B):c.2073G>A (p.Leu691=)
|
|
|
NM_006363.6(SEC23B):c.2094G>T (p.Leu698=)
|
|
|
NM_006363.6(SEC23B):c.2109G>A (p.Pro703=)
|
|
|
NM_006363.6(SEC23B):c.2122A>G (p.Ile708Val)
|
|
|
NM_006363.6(SEC23B):c.2130G>A (p.Thr710=)
|
|
|
NM_006363.6(SEC23B):c.2139A>T (p.Gly713=)
|
|
|
NM_006363.6(SEC23B):c.2148+10C>T
|
|
|
NM_006363.6(SEC23B):c.2148+17C>G
|
|
|
NM_006363.6(SEC23B):c.2148+7G>A
|
|
|
NM_006363.6(SEC23B):c.2149-12T>C
|
|
|
NM_006363.6(SEC23B):c.2149-13G>C
|
|
|
NM_006363.6(SEC23B):c.2149-19G>T
|
|
|
NM_006363.6(SEC23B):c.2149-21TTG[4]
|
rs746737770
|
|
NM_006363.6(SEC23B):c.2151T>G (p.Ala717=)
|
|
|
NM_006363.6(SEC23B):c.2166C>G (p.Ser722=)
|
|
|
NM_006363.6(SEC23B):c.216A>G (p.Pro72=)
|
|
|
NM_006363.6(SEC23B):c.2178A>C (p.Pro726=)
|
|
|
NM_006363.6(SEC23B):c.2178A>G (p.Pro726=)
|
|
|
NM_006363.6(SEC23B):c.2181T>C (p.Ser727=)
|
|
|
NM_006363.6(SEC23B):c.2199G>C (p.Leu733=)
|
rs1600281875
|
|
NM_006363.6(SEC23B):c.2202T>C (p.Tyr734=)
|
|
|
NM_006363.6(SEC23B):c.2205T>C (p.Ala735=)
|
|
|
NM_006363.6(SEC23B):c.221+10C>G
|
|
|
NM_006363.6(SEC23B):c.221+163A>G
|
|
|
NM_006363.6(SEC23B):c.221+31A>T
|
|
|
NM_006363.6(SEC23B):c.2214+10C>A
|
|
|
NM_006363.6(SEC23B):c.2214+13_2214+14del
|
|
|
NM_006363.6(SEC23B):c.2214+14del
|
|
|
NM_006363.6(SEC23B):c.2214+15G>A
|
|
|
NM_006363.6(SEC23B):c.2214+15G>T
|
|
|
NM_006363.6(SEC23B):c.2215-18T>C
|
|
|
NM_006363.6(SEC23B):c.2215-19C>T
|
|
|
NM_006363.6(SEC23B):c.2215-9A>G
|
|
|
NM_006363.6(SEC23B):c.222-15T>A
|
|
|
NM_006363.6(SEC23B):c.222-17_222-15del
|
|
|
NM_006363.6(SEC23B):c.222-19_222-17del
|
|
|
NM_006363.6(SEC23B):c.222-4A>G
|
|
|
NM_006363.6(SEC23B):c.222-7C>G
|
|
|
NM_006363.6(SEC23B):c.2220T>C (p.Thr740=)
|
|
|
NM_006363.6(SEC23B):c.2233C>T (p.Leu745=)
|
|
|
NM_006363.6(SEC23B):c.2241T>C (p.Asp747=)
|
|
|
NM_006363.6(SEC23B):c.2247T>C (p.Val749=)
|
|
|
NM_006363.6(SEC23B):c.2250C>T (p.Ser750=)
|
|
|
NM_006363.6(SEC23B):c.225G>A (p.Gln75=)
|
|
|
NM_006363.6(SEC23B):c.2286T>C (p.Ala762=)
|
|
|
NM_006363.6(SEC23B):c.2289C>T (p.Val763=)
|
|
|
NM_006363.6(SEC23B):c.246T>C (p.Leu82=)
|
|
|
NM_006363.6(SEC23B):c.24C>A (p.Ile8=)
|
|
|
NM_006363.6(SEC23B):c.24C>T (p.Ile8=)
|
|
|
NM_006363.6(SEC23B):c.279+13T>A
|
|
|
NM_006363.6(SEC23B):c.279+17T>A
|
|
|
NM_006363.6(SEC23B):c.280-10T>C
|
|
|
NM_006363.6(SEC23B):c.280-11C>T
|
|
|
NM_006363.6(SEC23B):c.280-12C>G
|
|
|
NM_006363.6(SEC23B):c.280-12C>T
|
|
|
NM_006363.6(SEC23B):c.280-13T>G
|
|
|
NM_006363.6(SEC23B):c.280-20_280-14del
|
|
|
NM_006363.6(SEC23B):c.280-8_280-6del
|
|
|
NM_006363.6(SEC23B):c.294T>C (p.Tyr98=)
|
|
|
NM_006363.6(SEC23B):c.300C>T (p.Gly100=)
|
|
|
NM_006363.6(SEC23B):c.318A>G (p.Gln106=)
|
|
|
NM_006363.6(SEC23B):c.324C>T (p.Ala108=)
|
|
|
NM_006363.6(SEC23B):c.357C>T (p.Tyr119=)
|
|
|
NM_006363.6(SEC23B):c.366+11T>C
|
|
|
NM_006363.6(SEC23B):c.366+13T>A
|
|
|
NM_006363.6(SEC23B):c.366+15G>C
|
|
|
NM_006363.6(SEC23B):c.366+17G>A
|
|
|
NM_006363.6(SEC23B):c.366+18C>T
|
|
|
NM_006363.6(SEC23B):c.367-8G>C
|
|
|
NM_006363.6(SEC23B):c.369A>T (p.Arg123=)
|
|
|
NM_006363.6(SEC23B):c.375T>C (p.Ala125=)
|
|
|
NM_006363.6(SEC23B):c.408C>T (p.Asp136=)
|
|
|
NM_006363.6(SEC23B):c.414C>T (p.Cys138=)
|
|
|
NM_006363.6(SEC23B):c.438A>C (p.Ala146=)
|
|
|
NM_006363.6(SEC23B):c.438A>G (p.Ala146=)
|
|
|
NM_006363.6(SEC23B):c.450C>T (p.Ser150=)
|
|
|
NM_006363.6(SEC23B):c.480A>T (p.Pro160=)
|
|
|
NM_006363.6(SEC23B):c.489G>A (p.Leu163=)
|
|
|
NM_006363.6(SEC23B):c.489G>C (p.Leu163=)
|
|
|
NM_006363.6(SEC23B):c.489G>T (p.Leu163=)
|
|
|
NM_006363.6(SEC23B):c.528T>C (p.His176=)
|
|
|
NM_006363.6(SEC23B):c.534A>G (p.Leu178=)
|
|
|
NM_006363.6(SEC23B):c.539G>A (p.Cys180Tyr)
|
|
|
NM_006363.6(SEC23B):c.561T>C (p.Tyr187=)
|
|
|
NM_006363.6(SEC23B):c.564C>A (p.Val188=)
|
|
|
NM_006363.6(SEC23B):c.568C>A (p.Arg190=)
|
|
|
NM_006363.6(SEC23B):c.573G>A (p.Gly191=)
|
|
|
NM_006363.6(SEC23B):c.582T>C (p.Asp194=)
|
|
|
NM_006363.6(SEC23B):c.603+10T>C
|
|
|
NM_006363.6(SEC23B):c.603+12A>G
|
|
|
NM_006363.6(SEC23B):c.604-10T>G
|
|
|
NM_006363.6(SEC23B):c.604-11_604-10insC
|
|
|
NM_006363.6(SEC23B):c.604-19T>G
|
|
|
NM_006363.6(SEC23B):c.604-20T>C
|
|
|
NM_006363.6(SEC23B):c.604-6T>C
|
|
|
NM_006363.6(SEC23B):c.606T>C (p.Asp202=)
|
|
|
NM_006363.6(SEC23B):c.618G>T (p.Leu206=)
|
|
|
NM_006363.6(SEC23B):c.624G>A (p.Lys208=)
|
|
|
NM_006363.6(SEC23B):c.636C>T (p.Pro212=)
|
|
|
NM_006363.6(SEC23B):c.645A>G (p.Gln215=)
|
|
|
NM_006363.6(SEC23B):c.666G>A (p.Gln222=)
|
|
|
NM_006363.6(SEC23B):c.669G>A (p.Glu223=)
|
|
|
NM_006363.6(SEC23B):c.689+14A>T
|
|
|
NM_006363.6(SEC23B):c.689+19G>T
|
|
|
NM_006363.6(SEC23B):c.689+7G>T
|
|
|
NM_006363.6(SEC23B):c.689+8C>T
|
|
|
NM_006363.6(SEC23B):c.689+9C>A
|
|
|
NM_006363.6(SEC23B):c.690-17C>T
|
|
|
NM_006363.6(SEC23B):c.690-4_690-3dup
|
|
|
NM_006363.6(SEC23B):c.690-7C>G
|
|
|
NM_006363.6(SEC23B):c.6G>A (p.Ala2=)
|
|
|
NM_006363.6(SEC23B):c.708C>T (p.His236=)
|
|
|
NM_006363.6(SEC23B):c.732T>C (p.Asp244=)
|
|
|
NM_006363.6(SEC23B):c.738T>C (p.Leu246=)
|
|
|
NM_006363.6(SEC23B):c.744G>A (p.Glu248=)
|
|
|
NM_006363.6(SEC23B):c.759A>G (p.Pro253=)
|
|
|
NM_006363.6(SEC23B):c.765A>G (p.Pro255=)
|
|
|
NM_006363.6(SEC23B):c.783A>G (p.Arg261=)
|
|
|
NM_006363.6(SEC23B):c.78C>T (p.Ser26=)
|
|
|
NM_006363.6(SEC23B):c.819T>C (p.Ala273=)
|
|
|
NM_006363.6(SEC23B):c.834+14T>C
|
rs2148899499
|
|
NM_006363.6(SEC23B):c.834+17C>G
|
|
|
NM_006363.6(SEC23B):c.834+17C>T
|
|
|
NM_006363.6(SEC23B):c.835-10G>A
|
|
|
NM_006363.6(SEC23B):c.84G>A (p.Arg28=)
|
|
|
NM_006363.6(SEC23B):c.85C>T (p.Leu29=)
|
rs886056525
|
|
NM_006363.6(SEC23B):c.873T>C (p.Phe291=)
|
|
|
NM_006363.6(SEC23B):c.879A>G (p.Gly293=)
|
|
|
NM_006363.6(SEC23B):c.87G>A (p.Leu29=)
|
|
|
NM_006363.6(SEC23B):c.888T>C (p.Pro296=)
|
|
|
NM_006363.6(SEC23B):c.891C>T (p.Thr297=)
|
|
|
NM_006363.6(SEC23B):c.897G>A (p.Gly299=)
|
|
|
NM_006363.6(SEC23B):c.897G>C (p.Gly299=)
|
|
|
NM_006363.6(SEC23B):c.912T>A (p.Val304=)
|
|
|
NM_006363.6(SEC23B):c.93T>G (p.Ala31=)
|
|
|
NM_006363.6(SEC23B):c.954T>C (p.Ile318=)
|
|
|
NM_006363.6(SEC23B):c.960A>G (p.Lys320=)
|
|
|
NM_006363.6(SEC23B):c.96A>G (p.Thr32=)
|
|
|
NM_006363.6(SEC23B):c.985G>T (p.Ala329Ser)
|
rs143417821
|
|
NM_006363.6(SEC23B):c.990C>T (p.Thr330=)
|
|
|
NM_006363.6(SEC23B):c.993+11T>C
|
|
|
NM_006363.6(SEC23B):c.993+14G>A
|
|
|
NM_006363.6(SEC23B):c.993+15G>C
|
|
|
NM_006363.6(SEC23B):c.993+8C>G
|
|
|
NM_006363.6(SEC23B):c.993+8C>T
|
|
|
NM_006363.6(SEC23B):c.994-10C>G
|
|
|
NM_006363.6(SEC23B):c.994-13C>G
|
|
|
NM_006363.6(SEC23B):c.994-189T>A
|
|
|
NM_006363.6(SEC23B):c.994-189T>C
|
|
|
NM_006363.6(SEC23B):c.994-19A>G
|
|
|
NM_006363.6(SEC23B):c.994-20T>A
|
|
|
NM_006363.6(SEC23B):c.9A>G (p.Thr3=)
|
|
|
NM_015506.3(MMACHC):c.120C>T (p.His40=)
|
|
|
NM_015506.3(MMACHC):c.129G>A (p.Leu43=)
|
|
|
NM_015506.3(MMACHC):c.141C>G (p.Thr47=)
|
rs936938761
|
|
NM_015506.3(MMACHC):c.147C>T (p.Ala49=)
|
rs1570829648
|
|
NM_015506.3(MMACHC):c.153G>A (p.Leu51=)
|
|
|
NM_015506.3(MMACHC):c.15C>T (p.Val5=)
|
rs902026116
|
|
NM_015506.3(MMACHC):c.162C>T (p.Ser54=)
|
|
|
NM_015506.3(MMACHC):c.165G>T (p.Thr55=)
|
|
|
NM_015506.3(MMACHC):c.189C>T (p.Leu63=)
|
|
|
NM_015506.3(MMACHC):c.210C>T (p.Cys70=)
|
rs2149323253
|
|
NM_015506.3(MMACHC):c.231C>T (p.Asp77=)
|
rs2149323265
|
|
NM_015506.3(MMACHC):c.234A>C (p.Pro78=)
|
|
|
NM_015506.3(MMACHC):c.255C>T (p.Tyr85=)
|
rs2149323280
|
|
NM_015506.3(MMACHC):c.259C>T (p.Leu87=)
|
rs776402014
|
|
NM_015506.3(MMACHC):c.264C>T (p.Gly88=)
|
|
|
NM_015506.3(MMACHC):c.270T>G (p.Val90=)
|
rs2149323292
|
|
NM_015506.3(MMACHC):c.273A>G (p.Arg91=)
|
|
|
NM_015506.3(MMACHC):c.276+13C>G
|
rs543041810
|
|
NM_015506.3(MMACHC):c.276+13C>T
|
|
|
NM_015506.3(MMACHC):c.276+13_276+14del
|
|
|
NM_015506.3(MMACHC):c.276+17T>C
|
|
|
NM_015506.3(MMACHC):c.276+20C>T
|
|
|
NM_015506.3(MMACHC):c.276+8A>G
|
|
|
NM_015506.3(MMACHC):c.276+9G>A
|
|
|
NM_015506.3(MMACHC):c.277-10A>C
|
|
|
NM_015506.3(MMACHC):c.277-13T>C
|
|
|
NM_015506.3(MMACHC):c.277-14G>A
|
|
|
NM_015506.3(MMACHC):c.277-15T>G
|
|
|
NM_015506.3(MMACHC):c.277-17_277-16insA
|
|
|
NM_015506.3(MMACHC):c.277-20T>C
|
|
|
NM_015506.3(MMACHC):c.277-4C>A
|
rs199889403
|
|
NM_015506.3(MMACHC):c.277-4C>T
|
|
|
NM_015506.3(MMACHC):c.277-6T>C
|
|
|
NM_015506.3(MMACHC):c.277-7G>A
|
rs1258697986
|
|
NM_015506.3(MMACHC):c.277-8_277-3dup
|
rs756072947
|
|
NM_015506.3(MMACHC):c.277-9C>T
|
|
|
NM_015506.3(MMACHC):c.27G>A (p.Lys9=)
|
|
|
NM_015506.3(MMACHC):c.288G>A (p.Glu96=)
|
rs1643664191
|
|
NM_015506.3(MMACHC):c.291G>A (p.Leu97=)
|
rs566356386
|
|
NM_015506.3(MMACHC):c.297A>C (p.Ile99=)
|
|
|
NM_015506.3(MMACHC):c.30G>A (p.Gln10=)
|
|
|
NM_015506.3(MMACHC):c.312C>T (p.Asp104=)
|
|
|
NM_015506.3(MMACHC):c.318G>A (p.Glu106=)
|
|
|
NM_015506.3(MMACHC):c.339C>G (p.Pro113=)
|
rs2149323560
|
|
NM_015506.3(MMACHC):c.33G>A (p.Lys11=)
|
rs770446383
|
|
NM_015506.3(MMACHC):c.360A>C (p.Ala120=)
|
|
|
NM_015506.3(MMACHC):c.366T>C (p.His122=)
|
rs1643666556
|
|
NM_015506.3(MMACHC):c.369A>T (p.Val123=)
|
rs1643666589
|
|
NM_015506.3(MMACHC):c.36C>T (p.Ile12=)
|
|
|
NM_015506.3(MMACHC):c.372T>C (p.Ala124=)
|
|
|
NM_015506.3(MMACHC):c.375G>C (p.Gly125=)
|
|
|
NM_015506.3(MMACHC):c.375G>T (p.Gly125=)
|
|
|
NM_015506.3(MMACHC):c.405G>A (p.Val135=)
|
|
|
NM_015506.3(MMACHC):c.423G>T (p.Gly141=)
|
|
|
NM_015506.3(MMACHC):c.429+12A>C
|
|
|
NM_015506.3(MMACHC):c.429+14T>A
|
|
|
NM_015506.3(MMACHC):c.429+14T>C
|
|
|
NM_015506.3(MMACHC):c.429+18_429+21del
|
|
|
NM_015506.3(MMACHC):c.429+20T>C
|
|
|
NM_015506.3(MMACHC):c.429+20T>G
|
|
|
NM_015506.3(MMACHC):c.429+7G>A
|
rs1227206156
|
|
NM_015506.3(MMACHC):c.429+7_429+31del
|
rs2149323628
|
|
NM_015506.3(MMACHC):c.429+9G>C
|
|
|
NM_015506.3(MMACHC):c.430-10C>A
|
|
|
NM_015506.3(MMACHC):c.430-10C>T
|
rs550692873
|
|
NM_015506.3(MMACHC):c.430-11C>T
|
|
|
NM_015506.3(MMACHC):c.430-12C>T
|
|
|
NM_015506.3(MMACHC):c.430-13A>T
|
|
|
NM_015506.3(MMACHC):c.430-16T>C
|
|
|
NM_015506.3(MMACHC):c.430-8C>T
|
rs1217401490
|
|
NM_015506.3(MMACHC):c.432C>T (p.Arg144=)
|
|
|
NM_015506.3(MMACHC):c.433A>T (p.Ile145Leu)
|
rs74365027
|
|
NM_015506.3(MMACHC):c.438A>G (p.Ser146=)
|
|
|
NM_015506.3(MMACHC):c.441T>A (p.Gly147=)
|
|
|
NM_015506.3(MMACHC):c.441T>C (p.Gly147=)
|
|
|
NM_015506.3(MMACHC):c.441T>G (p.Gly147=)
|
|
|
NM_015506.3(MMACHC):c.45G>A (p.Thr15=)
|
rs750623781
|
|
NM_015506.3(MMACHC):c.45G>C (p.Thr15=)
|
|
|
NM_015506.3(MMACHC):c.46C>T (p.Leu16=)
|
|
|
NM_015506.3(MMACHC):c.481C>A (p.Arg161=)
|
rs370596113
|
|
NM_015506.3(MMACHC):c.486G>A (p.Gly162=)
|
|
|
NM_015506.3(MMACHC):c.495G>C (p.Leu165=)
|
rs761111018
|
|
NM_015506.3(MMACHC):c.498G>A (p.Leu166=)
|
|
|
NM_015506.3(MMACHC):c.501A>C (p.Pro167=)
|
rs1366306237
|
|
NM_015506.3(MMACHC):c.501A>G (p.Pro167=)
|
rs1366306237
|
|
NM_015506.3(MMACHC):c.546T>C (p.Cys182=)
|
rs2149323890
|
|
NM_015506.3(MMACHC):c.549A>C (p.Val183=)
|
|
|
NM_015506.3(MMACHC):c.54T>A (p.Pro18=)
|
|
|
NM_015506.3(MMACHC):c.54T>C (p.Pro18=)
|
|
|
NM_015506.3(MMACHC):c.564C>T (p.Asp188=)
|
rs1397062260
|
|
NM_015506.3(MMACHC):c.573C>T (p.Ala191=)
|
rs750572915
|
|
NM_015506.3(MMACHC):c.579C>G (p.Leu193=)
|
rs766342926
|
|
NM_015506.3(MMACHC):c.579C>T (p.Leu193=)
|
|
|
NM_015506.3(MMACHC):c.588C>T (p.Phe196=)
|
|
|
NM_015506.3(MMACHC):c.591T>C (p.Asn197=)
|
|
|
NM_015506.3(MMACHC):c.603T>C (p.Arg201=)
|
rs398124294
|
|
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=)
|
rs747527726
|
|
NM_015506.3(MMACHC):c.618G>A (p.Arg206=)
|
|
|
NM_015506.3(MMACHC):c.627G>A (p.Val209=)
|
|
|
NM_015506.3(MMACHC):c.627G>C (p.Val209=)
|
rs1327886469
|
|
NM_015506.3(MMACHC):c.630A>C (p.Thr210=)
|
|
|
NM_015506.3(MMACHC):c.63C>T (p.Phe21=)
|
rs2149320920
|
|
NM_015506.3(MMACHC):c.642C>A (p.Arg214=)
|
|
|
NM_015506.3(MMACHC):c.651A>G (p.Glu217=)
|
rs948189041
|
|
NM_015506.3(MMACHC):c.663C>A (p.Ala221=)
|
|
|
NM_015506.3(MMACHC):c.663C>T (p.Ala221=)
|
|
|
NM_015506.3(MMACHC):c.676C>G (p.Pro226Ala)
|
rs781527733
|
|
NM_015506.3(MMACHC):c.678A>C (p.Pro226=)
|
|
|
NM_015506.3(MMACHC):c.678A>G (p.Pro226=)
|
rs2149324023
|
|
NM_015506.3(MMACHC):c.684C>T (p.Ala228=)
|
|
|
NM_015506.3(MMACHC):c.696C>G (p.Ala232=)
|
rs767496391
|
|
NM_015506.3(MMACHC):c.708G>A (p.Leu236=)
|
|
|
NM_015506.3(MMACHC):c.720A>G (p.Ser240=)
|
rs764969563
|
|
NM_015506.3(MMACHC):c.729T>C (p.Pro243=)
|
rs891106099
|
|
NM_015506.3(MMACHC):c.729T>G (p.Pro243=)
|
rs891106099
|
|
NM_015506.3(MMACHC):c.732T>C (p.Ser244=)
|
rs1173232857
|
|
NM_015506.3(MMACHC):c.738C>A (p.Pro246=)
|
|
|
NM_015506.3(MMACHC):c.743C>G (p.Pro248Arg)
|
rs564280688
|
|
NM_015506.3(MMACHC):c.753C>A (p.Pro251=)
|
rs1643688309
|
|
NM_015506.3(MMACHC):c.753C>T (p.Pro251=)
|
rs1643688309
|
|
NM_015506.3(MMACHC):c.75C>T (p.Pro25=)
|
|
|
NM_015506.3(MMACHC):c.762A>C (p.Thr254=)
|
|
|
NM_015506.3(MMACHC):c.762A>G (p.Thr254=)
|
rs771203889
|
|
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
|
rs796064513
|
|
NM_015506.3(MMACHC):c.771C>T (p.Pro257=)
|
|
|
NM_015506.3(MMACHC):c.789C>T (p.Pro263=)
|
|
|
NM_015506.3(MMACHC):c.78C>T (p.Phe26=)
|
rs770431439
|
|
NM_015506.3(MMACHC):c.801G>A (p.Arg267=)
|
rs751017212
|
|
NM_015506.3(MMACHC):c.81+10T>G
|
rs2149320953
|
|
NM_015506.3(MMACHC):c.81+11C>A
|
|
|
NM_015506.3(MMACHC):c.81+13C>G
|
|
|
NM_015506.3(MMACHC):c.81+13C>T
|
|
|
NM_015506.3(MMACHC):c.81+15C>T
|
|
|
NM_015506.3(MMACHC):c.81+17T>C
|
|
|
NM_015506.3(MMACHC):c.810_811inv (p.Ser271Gly)
|
|
|
NM_015506.3(MMACHC):c.813C>T (p.Ser271=)
|
rs1311947307
|
|
NM_015506.3(MMACHC):c.816C>A (p.Pro272=)
|
rs754568180
|
|
NM_015506.3(MMACHC):c.82-16G>C
|
|
|
NM_015506.3(MMACHC):c.82-17T>C
|
|
|
NM_015506.3(MMACHC):c.82-18C>T
|
|
|
NM_015506.3(MMACHC):c.82-7G>A
|
|
|
NM_015506.3(MMACHC):c.82-8T>C
|
|
|
NM_015506.3(MMACHC):c.822C>A (p.Val274=)
|
rs746114287
|
|
NM_015506.3(MMACHC):c.822C>G (p.Val274=)
|
rs746114287
|
|
NM_015506.3(MMACHC):c.828A>C (p.Pro276=)
|
rs1288893138
|
|
NM_015506.3(MMACHC):c.846T>C (p.Pro282=)
|
|
|
NM_015506.3(MMACHC):c.848G>A (p.Ter283=)
|
|
|
NM_015506.3(MMACHC):c.9G>A (p.Pro3=)
|
|
|
NM_015702.3(MMADHC):c.10-11G>C
|
|
|
NM_015702.3(MMADHC):c.10-13G>A
|
|
|
NM_015702.3(MMADHC):c.105A>G (p.Gly35=)
|
|
|
NM_015702.3(MMADHC):c.105A>T (p.Gly35=)
|
rs761480889
|
|
NM_015702.3(MMADHC):c.108A>G (p.Ser36=)
|
|
|
NM_015702.3(MMADHC):c.111A>C (p.Ser37=)
|
|
|
NM_015702.3(MMADHC):c.117G>T (p.Ser39=)
|
|
|
NM_015702.3(MMADHC):c.120T>C (p.Asp40=)
|
|
|
NM_015702.3(MMADHC):c.123G>A (p.Glu41=)
|
rs1190732521
|
|
NM_015702.3(MMADHC):c.138T>C (p.Ala46=)
|
|
|
NM_015702.3(MMADHC):c.150T>C (p.Asp50=)
|
rs2105049895
|
|
NM_015702.3(MMADHC):c.154+17A>C
|
|
|
NM_015702.3(MMADHC):c.154+20G>C
|
|
|
NM_015702.3(MMADHC):c.154+9A>T
|
rs2105049874
|
|
NM_015702.3(MMADHC):c.155-10T>C
|
|
|
NM_015702.3(MMADHC):c.155-12_155-10del
|
|
|
NM_015702.3(MMADHC):c.155-16T>G
|
|
|
NM_015702.3(MMADHC):c.155-17T>C
|
|
|
NM_015702.3(MMADHC):c.155-6C>T
|
|
|
NM_015702.3(MMADHC):c.155-7T>C
|
rs1305728146
|
|
NM_015702.3(MMADHC):c.155-8C>G
|
rs1349035917
|
|
NM_015702.3(MMADHC):c.160C>A (p.Arg54=)
|
|
|
NM_015702.3(MMADHC):c.168G>A (p.Val56=)
|
rs2105048289
|
|
NM_015702.3(MMADHC):c.192C>A (p.Pro64=)
|
rs2105048270
|
|
NM_015702.3(MMADHC):c.192C>T (p.Pro64=)
|
|
|
NM_015702.3(MMADHC):c.207T>C (p.Asp69=)
|
rs1327529103
|
|
NM_015702.3(MMADHC):c.213G>A (p.Arg71=)
|
|
|
NM_015702.3(MMADHC):c.234A>T (p.Ile78=)
|
|
|
NM_015702.3(MMADHC):c.249C>T (p.His83=)
|
|
|
NM_015702.3(MMADHC):c.252C>T (p.Leu84=)
|
|
|
NM_015702.3(MMADHC):c.27C>T (p.Ala9=)
|
|
|
NM_015702.3(MMADHC):c.307C>T (p.Leu103=)
|
|
|
NM_015702.3(MMADHC):c.309A>C (p.Leu103=)
|
|
|
NM_015702.3(MMADHC):c.309A>T (p.Leu103=)
|
rs1053884096
|
|
NM_015702.3(MMADHC):c.30A>G (p.Arg10=)
|
rs749344711
|
|
NM_015702.3(MMADHC):c.318T>C (p.Pro106=)
|
|
|
NM_015702.3(MMADHC):c.333A>G (p.Arg111=)
|
|
|
NM_015702.3(MMADHC):c.342T>C (p.Phe114=)
|
|
|
NM_015702.3(MMADHC):c.360G>A (p.Val120=)
|
|
|
NM_015702.3(MMADHC):c.372+17A>G
|
|
|
NM_015702.3(MMADHC):c.372+8G>A
|
rs2105048110
|
|
NM_015702.3(MMADHC):c.372+8G>C
|
rs2105048110
|
|
NM_015702.3(MMADHC):c.372+8G>T
|
|
|
NM_015702.3(MMADHC):c.373-10dup
|
rs1682721920
|
|
NM_015702.3(MMADHC):c.373-13T>C
|
|
|
NM_015702.3(MMADHC):c.373-13T>G
|
|
|
NM_015702.3(MMADHC):c.373-14C>G
|
|
|
NM_015702.3(MMADHC):c.373-18T>C
|
|
|
NM_015702.3(MMADHC):c.373-4T>G
|
|
|
NM_015702.3(MMADHC):c.373-5C>T
|
|
|
NM_015702.3(MMADHC):c.373-8C>G
|
|
|
NM_015702.3(MMADHC):c.373-8C>T
|
|
|
NM_015702.3(MMADHC):c.393A>G (p.Glu131=)
|
rs1682721203
|
|
NM_015702.3(MMADHC):c.39C>T (p.Ser13=)
|
rs543128117
|
|
NM_015702.3(MMADHC):c.402T>A (p.Ile134=)
|
|
|
NM_015702.3(MMADHC):c.438A>G (p.Val146=)
|
|
|
NM_015702.3(MMADHC):c.456A>G (p.Thr152=)
|
rs374470946
|
|
NM_015702.3(MMADHC):c.459T>C (p.Cys153=)
|
rs1323984126
|
|
NM_015702.3(MMADHC):c.471G>A (p.Leu157=)
|
|
|
NM_015702.3(MMADHC):c.478+10G>A
|
|
|
NM_015702.3(MMADHC):c.478+12T>C
|
|
|
NM_015702.3(MMADHC):c.478+15A>T
|
|
|
NM_015702.3(MMADHC):c.478+19T>G
|
|
|
NM_015702.3(MMADHC):c.478+7C>A
|
|
|
NM_015702.3(MMADHC):c.478+7C>T
|
rs2105046042
|
|
NM_015702.3(MMADHC):c.478+8A>T
|
|
|
NM_015702.3(MMADHC):c.478+9T>C
|
rs1573877066
|
|
NM_015702.3(MMADHC):c.479-11_479-9del
|
rs777304368
|
|
NM_015702.3(MMADHC):c.479-13T>C
|
|
|
NM_015702.3(MMADHC):c.479-15T>A
|
|
|
NM_015702.3(MMADHC):c.479-18G>C
|
|
|
NM_015702.3(MMADHC):c.479-20A>G
|
|
|
NM_015702.3(MMADHC):c.479-4G>A
|
rs2105045611
|
|
NM_015702.3(MMADHC):c.479-6T>C
|
rs1682708794
|
|
NM_015702.3(MMADHC):c.479-7T>A
|
rs1246748373
|
|
NM_015702.3(MMADHC):c.479-7T>C
|
rs1246748373
|
|
NM_015702.3(MMADHC):c.486A>G (p.Glu162=)
|
|
|
NM_015702.3(MMADHC):c.48A>C (p.Pro16=)
|
rs2105050018
|
|
NM_015702.3(MMADHC):c.507T>C (p.Ala169=)
|
rs1347714473
|
|
NM_015702.3(MMADHC):c.519A>G (p.Leu173=)
|
|
|
NM_015702.3(MMADHC):c.531T>C (p.Thr177=)
|
rs369822209
|
|
NM_015702.3(MMADHC):c.531T>G (p.Thr177=)
|
|
|
NM_015702.3(MMADHC):c.534A>G (p.Val178=)
|
rs1268371654
|
|
NM_015702.3(MMADHC):c.537A>C (p.Thr179=)
|
|
|
NM_015702.3(MMADHC):c.549G>A (p.Lys183=)
|
|
|
NM_015702.3(MMADHC):c.555T>C (p.Asp185=)
|
|
|
NM_015702.3(MMADHC):c.57C>T (p.Cys19=)
|
|
|
NM_015702.3(MMADHC):c.588A>G (p.Glu196=)
|
|
|
NM_015702.3(MMADHC):c.597G>C (p.Val199=)
|
|
|
NM_015702.3(MMADHC):c.601T>C (p.Leu201=)
|
rs2105045479
|
|
NM_015702.3(MMADHC):c.609+11C>G
|
|
|
NM_015702.3(MMADHC):c.609+13A>G
|
|
|
NM_015702.3(MMADHC):c.609+14T>C
|
|
|
NM_015702.3(MMADHC):c.609+8T>G
|
|
|
NM_015702.3(MMADHC):c.609+8_609+100del
|
rs1553453945
|
|
NM_015702.3(MMADHC):c.610-12C>T
|
|
|
NM_015702.3(MMADHC):c.610-13A>G
|
|
|
NM_015702.3(MMADHC):c.610-4G>A
|
rs776311269
|
|
NM_015702.3(MMADHC):c.610-8C>T
|
|
|
NM_015702.3(MMADHC):c.610-8del
|
|
|
NM_015702.3(MMADHC):c.610-9C>A
|
|
|
NM_015702.3(MMADHC):c.610-9C>G
|
|
|
NM_015702.3(MMADHC):c.612C>T (p.Phe204=)
|
rs1573874420
|
|
NM_015702.3(MMADHC):c.618T>C (p.Asn206=)
|
|
|
NM_015702.3(MMADHC):c.630A>G (p.Glu210=)
|
|
|
NM_015702.3(MMADHC):c.639T>C (p.Tyr213=)
|
|
|
NM_015702.3(MMADHC):c.666T>C (p.Ala222=)
|
rs2105042235
|
|
NM_015702.3(MMADHC):c.672T>C (p.Phe224=)
|
rs2105042231
|
|
NM_015702.3(MMADHC):c.678C>T (p.Asp226=)
|
|
|
NM_015702.3(MMADHC):c.684A>C (p.Ser228=)
|
rs766184567
|
|
NM_015702.3(MMADHC):c.684A>T (p.Ser228=)
|
|
|
NM_015702.3(MMADHC):c.696+16T>C
|
|
|
NM_015702.3(MMADHC):c.696+17T>A
|
|
|
NM_015702.3(MMADHC):c.697-10A>G
|
|
|
NM_015702.3(MMADHC):c.697-16G>A
|
|
|
NM_015702.3(MMADHC):c.697-17C>T
|
|
|
NM_015702.3(MMADHC):c.697-18del
|
|
|
NM_015702.3(MMADHC):c.697-21_697-7dup
|
|
|
NM_015702.3(MMADHC):c.697-4T>C
|
|
|
NM_015702.3(MMADHC):c.697-5C>T
|
|
|
NM_015702.3(MMADHC):c.708A>G (p.Pro236=)
|
rs550333538
|
|
NM_015702.3(MMADHC):c.711T>C (p.Tyr237=)
|
|
|
NM_015702.3(MMADHC):c.714A>C (p.Thr238=)
|
rs2105041533
|
|
NM_015702.3(MMADHC):c.723T>G (p.Thr241=)
|
|
|
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)
|
rs886054920
|
|
NM_015702.3(MMADHC):c.795T>C (p.Ile265=)
|
rs1682615780
|
|
NM_015702.3(MMADHC):c.819T>C (p.His273=)
|
rs752425275
|
|
NM_015702.3(MMADHC):c.822A>G (p.Val274=)
|
rs1474967244
|
|
NM_015702.3(MMADHC):c.825T>C (p.Val275=)
|
|
|
NM_015702.3(MMADHC):c.840C>T (p.Phe280=)
|
rs2105041390
|
|
NM_015702.3(MMADHC):c.864T>C (p.His288=)
|
|
|
NM_015702.3(MMADHC):c.876A>G (p.Lys292=)
|
rs1558844562
|
|
NM_015702.3(MMADHC):c.877T>C (p.Leu293=)
|
|
|
NM_015702.3(MMADHC):c.885A>C (p.Gly295=)
|
rs746282965
|
|
NM_015702.3(MMADHC):c.885A>G (p.Gly295=)
|
rs746282965
|
|
NM_015702.3(MMADHC):c.891G>A (p.Ter297=)
|
|
|
NM_015702.3(MMADHC):c.9+12A>T
|
|
|
NM_015702.3(MMADHC):c.9+16C>T
|
|
|
NM_015702.3(MMADHC):c.9+17T>A
|
rs372601477
|
|
NM_015702.3(MMADHC):c.9+17T>G
|
|
|
NM_015702.3(MMADHC):c.9+18T>G
|
rs2105053453
|
|
NM_015702.3(MMADHC):c.9+19A>C
|
|
|
NM_015702.3(MMADHC):c.90C>G (p.Ala30=)
|
rs2105049979
|
|
NM_015702.3(MMADHC):c.96G>A (p.Ser32=)
|
|
|
NM_015702.3(MMADHC):c.96G>T (p.Ser32=)
|
rs1366609158
|
|
NM_015702.3(MMADHC):c.99T>C (p.Thr33=)
|
rs368111926
|
|
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_018368.4(LMBRD1):c.1008A>G (p.Gly336=)
|
|
|
NM_018368.4(LMBRD1):c.1083+11_1083+14del
|
|
|
NM_018368.4(LMBRD1):c.1083+12A>T
|
|
|
NM_018368.4(LMBRD1):c.1083+15A>C
|
|
|
NM_018368.4(LMBRD1):c.1083+16A>G
|
|
|
NM_018368.4(LMBRD1):c.1084-12dup
|
rs757172535
|
|
NM_018368.4(LMBRD1):c.1084-16C>A
|
|
|
NM_018368.4(LMBRD1):c.1084-16C>T
|
|
|
NM_018368.4(LMBRD1):c.1084-20A>G
|
|
|
NM_018368.4(LMBRD1):c.1084-3dup
|
|
|
NM_018368.4(LMBRD1):c.1095T>G (p.Leu365=)
|
|
|
NM_018368.4(LMBRD1):c.1116T>C (p.Ile372=)
|
|
|
NM_018368.4(LMBRD1):c.1119T>C (p.Ile373=)
|
|
|
NM_018368.4(LMBRD1):c.117G>A (p.Arg39=)
|
|
|
NM_018368.4(LMBRD1):c.1188+10T>A
|
|
|
NM_018368.4(LMBRD1):c.1188+16A>G
|
|
|
NM_018368.4(LMBRD1):c.1189-12T>G
|
|
|
NM_018368.4(LMBRD1):c.1189-13C>T
|
|
|
NM_018368.4(LMBRD1):c.1189-17C>T
|
|
|
NM_018368.4(LMBRD1):c.1189-19G>C
|
rs767672251
|
|
NM_018368.4(LMBRD1):c.1189-4C>G
|
|
|
NM_018368.4(LMBRD1):c.1189-4C>T
|
rs199650812
|
|
NM_018368.4(LMBRD1):c.1189-8C>A
|
|
|
NM_018368.4(LMBRD1):c.1191A>G (p.Leu397=)
|
|
|
NM_018368.4(LMBRD1):c.120G>T (p.Arg40=)
|
|
|
NM_018368.4(LMBRD1):c.1215C>G (p.Thr405=)
|
|
|
NM_018368.4(LMBRD1):c.1224A>G (p.Gln408=)
|
|
|
NM_018368.4(LMBRD1):c.1239C>T (p.Leu413=)
|
|
|
NM_018368.4(LMBRD1):c.1248A>T (p.Ile416=)
|
|
|
NM_018368.4(LMBRD1):c.1284T>A (p.Ile428=)
|
|
|
NM_018368.4(LMBRD1):c.1299C>G (p.Pro433=)
|
|
|
NM_018368.4(LMBRD1):c.1302A>G (p.Gln434=)
|
|
|
NM_018368.4(LMBRD1):c.1317A>T (p.Gly439=)
|
|
|
NM_018368.4(LMBRD1):c.1339-12T>G
|
|
|
NM_018368.4(LMBRD1):c.1339-18T>A
|
|
|
NM_018368.4(LMBRD1):c.1339-8T>C
|
|
|
NM_018368.4(LMBRD1):c.1341T>G (p.Thr447=)
|
|
|
NM_018368.4(LMBRD1):c.1353T>C (p.Ser451=)
|
|
|
NM_018368.4(LMBRD1):c.135C>T (p.Val45=)
|
|
|
NM_018368.4(LMBRD1):c.1368C>A (p.Gly456=)
|
|
|
NM_018368.4(LMBRD1):c.1383T>A (p.Ser461=)
|
|
|
NM_018368.4(LMBRD1):c.1417+12T>C
|
|
|
NM_018368.4(LMBRD1):c.1418-14A>G
|
|
|
NM_018368.4(LMBRD1):c.1434C>G (p.Thr478=)
|
|
|
NM_018368.4(LMBRD1):c.1443C>T (p.Tyr481=)
|
|
|
NM_018368.4(LMBRD1):c.1470C>T (p.Phe490=)
|
|
|
NM_018368.4(LMBRD1):c.1473T>C (p.Ser491=)
|
|
|
NM_018368.4(LMBRD1):c.1500C>T (p.Ala500=)
|
|
|
NM_018368.4(LMBRD1):c.1503T>C (p.Phe501=)
|
|
|
NM_018368.4(LMBRD1):c.1509+12T>C
|
rs2149832420
|
|
NM_018368.4(LMBRD1):c.1509+13A>G
|
|
|
NM_018368.4(LMBRD1):c.1509+15C>T
|
|
|
NM_018368.4(LMBRD1):c.1509+18A>G
|
|
|
NM_018368.4(LMBRD1):c.1509+20G>A
|
rs116095397
|
|
NM_018368.4(LMBRD1):c.1509+7G>A
|
|
|
NM_018368.4(LMBRD1):c.1510-11T>C
|
|
|
NM_018368.4(LMBRD1):c.1510-16T>G
|
|
|
NM_018368.4(LMBRD1):c.1510-4A>G
|
|
|
NM_018368.4(LMBRD1):c.1510-9A>C
|
|
|
NM_018368.4(LMBRD1):c.1524A>T (p.Gly508=)
|
|
|
NM_018368.4(LMBRD1):c.1530T>C (p.Ile510=)
|
|
|
NM_018368.4(LMBRD1):c.1557G>T (p.Ser519=)
|
|
|
NM_018368.4(LMBRD1):c.1572A>G (p.Val524=)
|
|
|
NM_018368.4(LMBRD1):c.1599T>C (p.Asp533=)
|
|
|
NM_018368.4(LMBRD1):c.15C>T (p.Gly5=)
|
|
|
NM_018368.4(LMBRD1):c.1611C>G (p.Val537=)
|
rs534280770
|
|
NM_018368.4(LMBRD1):c.1614T>C (p.Tyr538=)
|
|
|
NM_018368.4(LMBRD1):c.171A>G (p.Ala57=)
|
|
|
NM_018368.4(LMBRD1):c.174T>G (p.Leu58=)
|
|
|
NM_018368.4(LMBRD1):c.18G>T (p.Ala6=)
|
|
|
NM_018368.4(LMBRD1):c.192A>G (p.Leu64=)
|
|
|
NM_018368.4(LMBRD1):c.198G>A (p.Val66=)
|
|
|
NM_018368.4(LMBRD1):c.21C>T (p.Ala7=)
|
|
|
NM_018368.4(LMBRD1):c.246+10A>G
|
|
|
NM_018368.4(LMBRD1):c.246+16C>T
|
|
|
NM_018368.4(LMBRD1):c.247-13C>A
|
|
|
NM_018368.4(LMBRD1):c.247-14T>A
|
|
|
NM_018368.4(LMBRD1):c.247-17G>A
|
|
|
NM_018368.4(LMBRD1):c.247-20A>G
|
|
|
NM_018368.4(LMBRD1):c.247-6T>C
|
|
|
NM_018368.4(LMBRD1):c.247-8T>A
|
rs769329039
|
|
NM_018368.4(LMBRD1):c.24G>C (p.Ser8=)
|
|
|
NM_018368.4(LMBRD1):c.27G>T (p.Ala9=)
|
rs769952932
|
|
NM_018368.4(LMBRD1):c.307+13C>T
|
|
|
NM_018368.4(LMBRD1):c.307+15G>A
|
|
|
NM_018368.4(LMBRD1):c.308-17A>G
|
|
|
NM_018368.4(LMBRD1):c.308-5C>T
|
|
|
NM_018368.4(LMBRD1):c.308-6C>T
|
|
|
NM_018368.4(LMBRD1):c.318T>G (p.Ser106=)
|
|
|
NM_018368.4(LMBRD1):c.327G>A (p.Leu109=)
|
|
|
NM_018368.4(LMBRD1):c.357C>T (p.Val119=)
|
rs2149877968
|
|
NM_018368.4(LMBRD1):c.378G>A (p.Lys126=)
|
|
|
NM_018368.4(LMBRD1):c.387T>C (p.Asp129=)
|
|
|
NM_018368.4(LMBRD1):c.393T>C (p.Thr131=)
|
|
|
NM_018368.4(LMBRD1):c.396T>C (p.Ser132=)
|
|
|
NM_018368.4(LMBRD1):c.405+17T>A
|
|
|
NM_018368.4(LMBRD1):c.405+18A>G
|
|
|
NM_018368.4(LMBRD1):c.405+19G>C
|
|
|
NM_018368.4(LMBRD1):c.405+9C>A
|
|
|
NM_018368.4(LMBRD1):c.406-18T>C
|
|
|
NM_018368.4(LMBRD1):c.406-8G>A
|
|
|
NM_018368.4(LMBRD1):c.417G>C (p.Thr139=)
|
|
|
NM_018368.4(LMBRD1):c.420A>C (p.Ala140=)
|
|
|
NM_018368.4(LMBRD1):c.420A>G (p.Ala140=)
|
|
|
NM_018368.4(LMBRD1):c.426G>A (p.Lys142=)
|
|
|
NM_018368.4(LMBRD1):c.456A>G (p.Ala152=)
|
|
|
NM_018368.4(LMBRD1):c.459G>T (p.Leu153=)
|
|
|
NM_018368.4(LMBRD1):c.462T>G (p.Leu154=)
|
|
|
NM_018368.4(LMBRD1):c.466T>C (p.Leu156=)
|
|
|
NM_018368.4(LMBRD1):c.473+10G>C
|
|
|
NM_018368.4(LMBRD1):c.473+11A>T
|
|
|
NM_018368.4(LMBRD1):c.474-16A>G
|
|
|
NM_018368.4(LMBRD1):c.474-4G>A
|
|
|
NM_018368.4(LMBRD1):c.474-6T>C
|
|
|
NM_018368.4(LMBRD1):c.486A>C (p.Pro162=)
|
|
|
NM_018368.4(LMBRD1):c.486A>G (p.Pro162=)
|
|
|
NM_018368.4(LMBRD1):c.48C>T (p.Cys16=)
|
|
|
NM_018368.4(LMBRD1):c.516A>G (p.Thr172=)
|
|
|
NM_018368.4(LMBRD1):c.538C>T (p.Leu180=)
|
|
|
NM_018368.4(LMBRD1):c.562+10G>T
|
|
|
NM_018368.4(LMBRD1):c.562+13T>C
|
|
|
NM_018368.4(LMBRD1):c.562+14T>G
|
|
|
NM_018368.4(LMBRD1):c.562+15T>C
|
|
|
NM_018368.4(LMBRD1):c.562+7A>G
|
|
|
NM_018368.4(LMBRD1):c.563-10T>G
|
|
|
NM_018368.4(LMBRD1):c.563-11T>C
|
rs1767012664
|
|
NM_018368.4(LMBRD1):c.563-15T>A
|
|
|
NM_018368.4(LMBRD1):c.563-18G>A
|
|
|
NM_018368.4(LMBRD1):c.563-19A>C
|
|
|
NM_018368.4(LMBRD1):c.563-19A>G
|
|
|
NM_018368.4(LMBRD1):c.563-20_563-19del
|
|
|
NM_018368.4(LMBRD1):c.563-6del
|
|
|
NM_018368.4(LMBRD1):c.577T>C (p.Leu193=)
|
|
|
NM_018368.4(LMBRD1):c.579G>A (p.Leu193=)
|
|
|
NM_018368.4(LMBRD1):c.57C>A (p.Gly19=)
|
|
|
NM_018368.4(LMBRD1):c.582A>G (p.Ser194=)
|
rs1387756161
|
|
NM_018368.4(LMBRD1):c.60C>T (p.Leu20=)
|
rs2149901083
|
|
NM_018368.4(LMBRD1):c.624T>C (p.Ala208=)
|
|
|
NM_018368.4(LMBRD1):c.636+13G>A
|
|
|
NM_018368.4(LMBRD1):c.636+18A>G
|
|
|
NM_018368.4(LMBRD1):c.636+19A>C
|
|
|
NM_018368.4(LMBRD1):c.636+7G>T
|
|
|
NM_018368.4(LMBRD1):c.637-15T>A
|
|
|
NM_018368.4(LMBRD1):c.637-15T>C
|
|
|
NM_018368.4(LMBRD1):c.637-8T>C
|
|
|
NM_018368.4(LMBRD1):c.639C>T (p.Ala213=)
|
|
|
NM_018368.4(LMBRD1):c.654G>A (p.Ala218=)
|
|
|
NM_018368.4(LMBRD1):c.667C>T (p.Leu223=)
|
|
|
NM_018368.4(LMBRD1):c.687C>T (p.Ser229=)
|
|
|
NM_018368.4(LMBRD1):c.69+10G>T
|
|
|
NM_018368.4(LMBRD1):c.69+11C>G
|
|
|
NM_018368.4(LMBRD1):c.69+11C>T
|
|
|
NM_018368.4(LMBRD1):c.69+12G>A
|
|
|
NM_018368.4(LMBRD1):c.69+15T>C
|
|
|
NM_018368.4(LMBRD1):c.69+17G>C
|
|
|
NM_018368.4(LMBRD1):c.69+20T>C
|
|
|
NM_018368.4(LMBRD1):c.69+8dup
|
|
|
NM_018368.4(LMBRD1):c.69+9G>A
|
|
|
NM_018368.4(LMBRD1):c.6G>A (p.Ala2=)
|
rs753043203
|
|
NM_018368.4(LMBRD1):c.6G>T (p.Ala2=)
|
|
|
NM_018368.4(LMBRD1):c.70-20C>G
|
|
|
NM_018368.4(LMBRD1):c.720C>T (p.Asp240=)
|
|
|
NM_018368.4(LMBRD1):c.735A>G (p.Glu245=)
|
|
|
NM_018368.4(LMBRD1):c.75T>A (p.Ile25=)
|
|
|
NM_018368.4(LMBRD1):c.762+11G>A
|
|
|
NM_018368.4(LMBRD1):c.762+12T>C
|
|
|
NM_018368.4(LMBRD1):c.762+15T>C
|
|
|
NM_018368.4(LMBRD1):c.762+7T>G
|
|
|
NM_018368.4(LMBRD1):c.763-10T>C
|
|
|
NM_018368.4(LMBRD1):c.763-11G>C
|
|
|
NM_018368.4(LMBRD1):c.763-13C>A
|
|
|
NM_018368.4(LMBRD1):c.763-19T>G
|
|
|
NM_018368.4(LMBRD1):c.828A>G (p.Leu276=)
|
|
|
NM_018368.4(LMBRD1):c.844A>C (p.Arg282=)
|
|
|
NM_018368.4(LMBRD1):c.846A>G (p.Arg282=)
|
|
|
NM_018368.4(LMBRD1):c.876C>T (p.Ser292=)
|
|
|
NM_018368.4(LMBRD1):c.901C>T (p.Leu301=)
|
|
|
NM_018368.4(LMBRD1):c.910C>T (p.Leu304=)
|
|
|
NM_018368.4(LMBRD1):c.912G>A (p.Leu304=)
|
|
|
NM_018368.4(LMBRD1):c.915+16A>G
|
|
|
NM_018368.4(LMBRD1):c.915+16A>T
|
|
|
NM_018368.4(LMBRD1):c.915+18A>T
|
|
|
NM_018368.4(LMBRD1):c.915+19A>G
|
|
|
NM_018368.4(LMBRD1):c.916-13T>C
|
|
|
NM_018368.4(LMBRD1):c.916-7C>T
|
|
|
NM_018368.4(LMBRD1):c.936C>T (p.Phe312=)
|
|
|
NM_018368.4(LMBRD1):c.975G>A (p.Leu325=)
|
|
|
NM_018368.4(LMBRD1):c.980+10G>A
|
|
|
NM_018368.4(LMBRD1):c.980+13G>A
|
|
|
NM_018368.4(LMBRD1):c.980+14A>G
|
|
|
NM_018368.4(LMBRD1):c.980+15C>T
|
|
|
NM_018368.4(LMBRD1):c.981-10T>A
|
|
|
NM_018368.4(LMBRD1):c.981-10T>C
|
|
|
NM_018368.4(LMBRD1):c.981-17T>C
|
|
|
NM_018368.4(LMBRD1):c.981-4T>G
|
|
|
NM_018368.4(LMBRD1):c.981-4_981-3dup
|
|
|
NM_018368.4(LMBRD1):c.981-8T>A
|
|
|
NM_018368.4(LMBRD1):c.981-9T>A
|
rs2149844964
|
|
NM_018368.4(LMBRD1):c.990A>G (p.Lys330=)
|
|
|
NM_018368.4(LMBRD1):c.993T>G (p.Ala331=)
|
|
|
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_030943.4(AMN):c.1002G>A (p.Glu334=)
|
|
|
NM_030943.4(AMN):c.1006+12C>G
|
|
|
NM_030943.4(AMN):c.1006+12_1006+35dup
|
|
|
NM_030943.4(AMN):c.1006+13G>A
|
|
|
NM_030943.4(AMN):c.1006+14C>T
|
|
|
NM_030943.4(AMN):c.1006+18_1006+27del
|
|
|
NM_030943.4(AMN):c.1006+23_1006+36del
|
|
|
NM_030943.4(AMN):c.1006+27C>T
|
|
|
NM_030943.4(AMN):c.1006+28G>T
|
|
|
NM_030943.4(AMN):c.1006+33G>A
|
|
|
NM_030943.4(AMN):c.1006+33G>T
|
|
|
NM_030943.4(AMN):c.1006+36_1007-34dup
|
|
|
NM_030943.4(AMN):c.1006+8C>A
|
|
|
NM_030943.4(AMN):c.1006+9G>A
|
|
|
NM_030943.4(AMN):c.1006+9G>T
|
|
|
NM_030943.4(AMN):c.1007-11C>G
|
|
|
NM_030943.4(AMN):c.1007-11C>T
|
|
|
NM_030943.4(AMN):c.1007-13C>T
|
|
|
NM_030943.4(AMN):c.1007-14C>T
|
|
|
NM_030943.4(AMN):c.1007-15G>A
|
|
|
NM_030943.4(AMN):c.1007-16G>A
|
|
|
NM_030943.4(AMN):c.1007-29G>C
|
|
|
NM_030943.4(AMN):c.1007-30G>C
|
|
|
NM_030943.4(AMN):c.1007-30G>T
|
|
|
NM_030943.4(AMN):c.1007-31G>C
|
|
|
NM_030943.4(AMN):c.1007-31_1007-30insCC
|
|
|
NM_030943.4(AMN):c.1007-32C>T
|
|
|
NM_030943.4(AMN):c.1007-33G>T
|
|
|
NM_030943.4(AMN):c.1007-34del
|
|
|
NM_030943.4(AMN):c.1007-38_1007-34dup
|
|
|
NM_030943.4(AMN):c.1007-4G>A
|
|
|
NM_030943.4(AMN):c.1007-7G>A
|
|
|
NM_030943.4(AMN):c.1007-9C>T
|
|
|
NM_030943.4(AMN):c.1008C>A (p.Gly336=)
|
|
|
NM_030943.4(AMN):c.1011G>A (p.Glu337=)
|
|
|
NM_030943.4(AMN):c.1014C>A (p.Ala338=)
|
|
|
NM_030943.4(AMN):c.1017C>A (p.Leu339=)
|
rs1230984626
|
|
NM_030943.4(AMN):c.1020C>T (p.Gly340=)
|
|
|
NM_030943.4(AMN):c.1029G>A (p.Glu343=)
|
|
|
NM_030943.4(AMN):c.1039C>A (p.Arg347=)
|
|
|
NM_030943.4(AMN):c.105C>T (p.Asn35=)
|
|
|
NM_030943.4(AMN):c.1065C>T (p.Gly355=)
|
|
|
NM_030943.4(AMN):c.1068C>T (p.Ser356=)
|
|
|
NM_030943.4(AMN):c.1077T>A (p.Ala359=)
|
|
|
NM_030943.4(AMN):c.1089C>T (p.Gly363=)
|
|
|
NM_030943.4(AMN):c.1092C>T (p.Gly364=)
|
|
|
NM_030943.4(AMN):c.1098G>A (p.Ala366=)
|
|
|
NM_030943.4(AMN):c.1104C>G (p.Ala368=)
|
|
|
NM_030943.4(AMN):c.1104C>T (p.Ala368=)
|
|
|
NM_030943.4(AMN):c.1108C>T (p.Leu370=)
|
|
|
NM_030943.4(AMN):c.1117C>T (p.Leu373=)
|
|
|
NM_030943.4(AMN):c.1128G>T (p.Leu376=)
|
|
|
NM_030943.4(AMN):c.1137G>A (p.Ala379=)
|
|
|
NM_030943.4(AMN):c.1146G>C (p.Leu382=)
|
|
|
NM_030943.4(AMN):c.1152C>T (p.Arg384=)
|
rs763597496
|
|
NM_030943.4(AMN):c.1158G>C (p.Ala386=)
|
|
|
NM_030943.4(AMN):c.1158G>T (p.Ala386=)
|
|
|
NM_030943.4(AMN):c.1169+10G>A
|
|
|
NM_030943.4(AMN):c.1169+14G>A
|
|
|
NM_030943.4(AMN):c.1169+16G>T
|
|
|
NM_030943.4(AMN):c.1169+19C>T
|
|
|
NM_030943.4(AMN):c.1170-10A>G
|
|
|
NM_030943.4(AMN):c.1170-12C>T
|
|
|
NM_030943.4(AMN):c.1170-14C>T
|
|
|
NM_030943.4(AMN):c.1170-16C>T
|
|
|
NM_030943.4(AMN):c.1170-17C>T
|
|
|
NM_030943.4(AMN):c.1170-7C>A
|
|
|
NM_030943.4(AMN):c.1170-7C>T
|
|
|
NM_030943.4(AMN):c.1170-8G>A
|
|
|
NM_030943.4(AMN):c.1170-8G>C
|
|
|
NM_030943.4(AMN):c.1170-9C>T
|
|
|
NM_030943.4(AMN):c.1177A>C (p.Arg393=)
|
|
|
NM_030943.4(AMN):c.1182C>T (p.His394=)
|
|
|
NM_030943.4(AMN):c.1185G>A (p.Glu395=)
|
|
|
NM_030943.4(AMN):c.1191G>A (p.Ala397=)
|
|
|
NM_030943.4(AMN):c.1191G>C (p.Ala397=)
|
|
|
NM_030943.4(AMN):c.1191G>T (p.Ala397=)
|
|
|
NM_030943.4(AMN):c.1194C>G (p.Ala398=)
|
|
|
NM_030943.4(AMN):c.1197G>C (p.Pro399=)
|
|
|
NM_030943.4(AMN):c.1206G>T (p.Ala402=)
|
|
|
NM_030943.4(AMN):c.1209C>T (p.Pro403=)
|
|
|
NM_030943.4(AMN):c.1215C>T (p.Gly405=)
|
|
|
NM_030943.4(AMN):c.1218C>T (p.Phe406=)
|
|
|
NM_030943.4(AMN):c.1221C>T (p.Arg407=)
|
|
|
NM_030943.4(AMN):c.1227G>A (p.Pro409=)
|
|
|
NM_030943.4(AMN):c.1242G>A (p.Thr414=)
|
|
|
NM_030943.4(AMN):c.1248C>T (p.Ser416=)
|
|
|
NM_030943.4(AMN):c.1257+10C>A
|
|
|
NM_030943.4(AMN):c.1257+15G>A
|
|
|
NM_030943.4(AMN):c.1257+16G>A
|
|
|
NM_030943.4(AMN):c.1257+16G>C
|
|
|
NM_030943.4(AMN):c.1257+17G>A
|
|
|
NM_030943.4(AMN):c.1257+18G>A
|
|
|
NM_030943.4(AMN):c.1257+19G>A
|
|
|
NM_030943.4(AMN):c.1257+20G>A
|
|
|
NM_030943.4(AMN):c.1257+20G>C
|
|
|
NM_030943.4(AMN):c.1257+7G>T
|
|
|
NM_030943.4(AMN):c.1258-14C>T
|
|
|
NM_030943.4(AMN):c.1258-15C>A
|
|
|
NM_030943.4(AMN):c.1258-15C>T
|
|
|
NM_030943.4(AMN):c.1258-4G>C
|
|
|
NM_030943.4(AMN):c.1258-5C>T
|
|
|
NM_030943.4(AMN):c.1258-8C>A
|
|
|
NM_030943.4(AMN):c.1258-9A>C
|
|
|
NM_030943.4(AMN):c.126G>A (p.Pro42=)
|
|
|
NM_030943.4(AMN):c.1272G>C (p.Arg424=)
|
|
|
NM_030943.4(AMN):c.1278C>T (p.Ser426=)
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NM_030943.4(AMN):c.1279C>T (p.Leu427=)
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|
NM_030943.4(AMN):c.1281G>C (p.Leu427=)
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NM_030943.4(AMN):c.1287G>A (p.Pro429=)
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NM_030943.4(AMN):c.1287G>C (p.Pro429=)
|
rs2139314090
|
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NM_030943.4(AMN):c.1293G>A (p.Ala431=)
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NM_030943.4(AMN):c.1296C>T (p.Ala432=)
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NM_030943.4(AMN):c.1299A>G (p.Ala433=)
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NM_030943.4(AMN):c.129C>T (p.Cys43=)
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NM_030943.4(AMN):c.1314C>T (p.His438=)
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NM_030943.4(AMN):c.1317T>C (p.Ser439=)
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NM_030943.4(AMN):c.1320C>T (p.Tyr440=)
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NM_030943.4(AMN):c.1338C>T (p.Phe446=)
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NM_030943.4(AMN):c.1341C>T (p.Ala447=)
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NM_030943.4(AMN):c.1344G>A (p.Gly448=)
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NM_030943.4(AMN):c.1347C>G (p.Ala449=)
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NM_030943.4(AMN):c.1347C>T (p.Ala449=)
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|
NM_030943.4(AMN):c.1348GAGGCC[3] (p.450EA[3])
|
rs763564473
|
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NM_030943.4(AMN):c.1350G>A (p.Glu450=)
|
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NM_030943.4(AMN):c.1356G>A (p.Glu452=)
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NM_030943.4(AMN):c.1359C>T (p.Ala453=)
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NM_030943.4(AMN):c.135C>T (p.Gly45=)
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NM_030943.4(AMN):c.141C>G (p.Ala47=)
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NM_030943.4(AMN):c.141C>T (p.Ala47=)
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NM_030943.4(AMN):c.153G>A (p.Pro51=)
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NM_030943.4(AMN):c.153G>C (p.Pro51=)
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NM_030943.4(AMN):c.153G>T (p.Pro51=)
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NM_030943.4(AMN):c.156G>A (p.Ala52=)
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NM_030943.4(AMN):c.162+12C>G
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NM_030943.4(AMN):c.162+12C>T
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NM_030943.4(AMN):c.162+13G>A
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NM_030943.4(AMN):c.162+15C>T
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NM_030943.4(AMN):c.162+19G>A
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NM_030943.4(AMN):c.162+8G>A
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NM_030943.4(AMN):c.163-13C>A
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NM_030943.4(AMN):c.163-16C>T
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NM_030943.4(AMN):c.163-20G>A
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NM_030943.4(AMN):c.163-6C>T
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NM_030943.4(AMN):c.163-7C>T
|
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NM_030943.4(AMN):c.168G>A (p.Val56=)
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|
NM_030943.4(AMN):c.177G>A (p.Leu59=)
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NM_030943.4(AMN):c.180G>C (p.Val60=)
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|
NM_030943.4(AMN):c.192C>T (p.His64=)
|
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NM_030943.4(AMN):c.195C>T (p.Ala65=)
|
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|
NM_030943.4(AMN):c.196G>A (p.Val66Ile)
|
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|
NM_030943.4(AMN):c.207+11G>A
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NM_030943.4(AMN):c.207+11G>C
|
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NM_030943.4(AMN):c.207+12C>A
|
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NM_030943.4(AMN):c.207+13T>C
|
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|
NM_030943.4(AMN):c.207+14G>T
|
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NM_030943.4(AMN):c.207+17A>C
|
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NM_030943.4(AMN):c.207+8C>T
|
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|
NM_030943.4(AMN):c.208-14C>T
|
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NM_030943.4(AMN):c.208-15C>G
|
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NM_030943.4(AMN):c.208-17G>T
|
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NM_030943.4(AMN):c.208-18dup
|
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NM_030943.4(AMN):c.208-20T>C
|
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NM_030943.4(AMN):c.213G>A (p.Leu71=)
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|
NM_030943.4(AMN):c.219G>A (p.Leu73=)
|
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|
NM_030943.4(AMN):c.21C>A (p.Val7=)
|
rs768522233
|
|
NM_030943.4(AMN):c.21C>T (p.Val7=)
|
rs768522233
|
|
NM_030943.4(AMN):c.235C>T (p.Leu79=)
|
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|
NM_030943.4(AMN):c.240T>C (p.Ala80=)
|
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NM_030943.4(AMN):c.246A>G (p.Gly82=)
|
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|
NM_030943.4(AMN):c.249C>A (p.Ala83=)
|
|
|
NM_030943.4(AMN):c.249C>G (p.Ala83=)
|
rs748549145
|
|
NM_030943.4(AMN):c.249C>T (p.Ala83=)
|
|
|
NM_030943.4(AMN):c.24G>T (p.Leu8=)
|
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|
NM_030943.4(AMN):c.258C>T (p.Gly86=)
|
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NM_030943.4(AMN):c.264A>G (p.Ser88=)
|
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|
NM_030943.4(AMN):c.276G>C (p.Ser92=)
|
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|
NM_030943.4(AMN):c.280C>T (p.Leu94=)
|
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|
NM_030943.4(AMN):c.282G>A (p.Leu94=)
|
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|
NM_030943.4(AMN):c.295+11C>T
|
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|
NM_030943.4(AMN):c.295+15C>T
|
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|
NM_030943.4(AMN):c.295+17G>A
|
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|
NM_030943.4(AMN):c.295+20G>A
|
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|
NM_030943.4(AMN):c.295+7C>G
|
|
|
NM_030943.4(AMN):c.295+7C>T
|
|
|
NM_030943.4(AMN):c.295+8G>A
|
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|
NM_030943.4(AMN):c.295+9G>A
|
|
|
NM_030943.4(AMN):c.296-11C>T
|
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|
NM_030943.4(AMN):c.296-16A>T
|
|
|
NM_030943.4(AMN):c.296-6del
|
|
|
NM_030943.4(AMN):c.306C>A (p.Ala102=)
|
|
|
NM_030943.4(AMN):c.306C>T (p.Ala102=)
|
|
|
NM_030943.4(AMN):c.333C>T (p.Ser111=)
|
|
|
NM_030943.4(AMN):c.349C>T (p.Leu117=)
|
|
|
NM_030943.4(AMN):c.351G>C (p.Leu117=)
|
|
|
NM_030943.4(AMN):c.357C>T (p.Arg119=)
|
|
|
NM_030943.4(AMN):c.375T>C (p.Pro125=)
|
|
|
NM_030943.4(AMN):c.378C>T (p.Gly126=)
|
|
|
NM_030943.4(AMN):c.381C>G (p.Leu127=)
|
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|
NM_030943.4(AMN):c.384C>T (p.Phe128=)
|
|
|
NM_030943.4(AMN):c.387C>T (p.Phe129=)
|
|
|
NM_030943.4(AMN):c.396C>T (p.Ala132=)
|
|
|
NM_030943.4(AMN):c.414C>T (p.Arg138=)
|
|
|
NM_030943.4(AMN):c.423C>T (p.Asp141=)
|
rs2139309288
|
|
NM_030943.4(AMN):c.429C>T (p.Phe143=)
|
|
|
NM_030943.4(AMN):c.43+10G>A
|
|
|
NM_030943.4(AMN):c.43+11A>G
|
|
|
NM_030943.4(AMN):c.43+15C>T
|
|
|
NM_030943.4(AMN):c.43+16A>G
|
|
|
NM_030943.4(AMN):c.43+17C>G
|
|
|
NM_030943.4(AMN):c.43+17C>T
|
|
|
NM_030943.4(AMN):c.43+17_43+37del
|
|
|
NM_030943.4(AMN):c.43+18C>T
|
|
|
NM_030943.4(AMN):c.43+7C>T
|
|
|
NM_030943.4(AMN):c.43+8G>A
|
rs1891084049
|
|
NM_030943.4(AMN):c.43+9G>A
|
|
|
NM_030943.4(AMN):c.44-15T>C
|
|
|
NM_030943.4(AMN):c.44-20C>T
|
|
|
NM_030943.4(AMN):c.44-4C>T
|
|
|
NM_030943.4(AMN):c.44-6C>T
|
|
|
NM_030943.4(AMN):c.44-9C>G
|
|
|
NM_030943.4(AMN):c.441T>C (p.Ser147=)
|
|
|
NM_030943.4(AMN):c.456G>A (p.Val152=)
|
|
|
NM_030943.4(AMN):c.459G>C (p.Gly153=)
|
rs1286684210
|
|
NM_030943.4(AMN):c.462C>T (p.Leu154=)
|
|
|
NM_030943.4(AMN):c.46C>T (p.Leu16=)
|
|
|
NM_030943.4(AMN):c.480C>A (p.Pro160=)
|
|
|
NM_030943.4(AMN):c.480C>T (p.Pro160=)
|
|
|
NM_030943.4(AMN):c.504T>A (p.Ala168=)
|
|
|
NM_030943.4(AMN):c.510C>A (p.Gly170=)
|
|
|
NM_030943.4(AMN):c.513+14G>A
|
|
|
NM_030943.4(AMN):c.513+16A>C
|
|
|
NM_030943.4(AMN):c.513+19del
|
|
|
NM_030943.4(AMN):c.513+8C>G
|
|
|
NM_030943.4(AMN):c.513+8C>T
|
rs764938272
|
|
NM_030943.4(AMN):c.514-15C>A
|
|
|
NM_030943.4(AMN):c.514-15C>T
|
|
|
NM_030943.4(AMN):c.514-19G>A
|
|
|
NM_030943.4(AMN):c.514-4G>C
|
|
|
NM_030943.4(AMN):c.514-4G>T
|
|
|
NM_030943.4(AMN):c.514-7C>T
|
|
|
NM_030943.4(AMN):c.516G>C (p.Thr172=)
|
|
|
NM_030943.4(AMN):c.522G>A (p.Thr174=)
|
|
|
NM_030943.4(AMN):c.525C>T (p.Arg175=)
|
|
|
NM_030943.4(AMN):c.555C>T (p.Ser185=)
|
|
|
NM_030943.4(AMN):c.558C>T (p.Arg186=)
|
|
|
NM_030943.4(AMN):c.561G>A (p.Ala187=)
|
|
|
NM_030943.4(AMN):c.579C>T (p.His193=)
|
|
|
NM_030943.4(AMN):c.57G>A (p.Ala19=)
|
rs145328398
|
|
NM_030943.4(AMN):c.582G>T (p.Gly194=)
|
|
|
NM_030943.4(AMN):c.591G>T (p.Ala197=)
|
|
|
NM_030943.4(AMN):c.597C>T (p.Ser199=)
|
|
|
NM_030943.4(AMN):c.600G>A (p.Val200=)
|
|
|
NM_030943.4(AMN):c.603C>T (p.Gly201=)
|
|
|
NM_030943.4(AMN):c.618G>A (p.Ala206=)
|
|
|
NM_030943.4(AMN):c.618G>C (p.Ala206=)
|
|
|
NM_030943.4(AMN):c.627G>A (p.Ser209=)
|
|
|
NM_030943.4(AMN):c.630C>T (p.Gly210=)
|
|
|
NM_030943.4(AMN):c.633C>T (p.Cys211=)
|
|
|
NM_030943.4(AMN):c.651+10G>A
|
|
|
NM_030943.4(AMN):c.651+12C>A
|
|
|
NM_030943.4(AMN):c.651+13G>T
|
|
|
NM_030943.4(AMN):c.651+15A>C
|
|
|
NM_030943.4(AMN):c.651+16G>T
|
|
|
NM_030943.4(AMN):c.651+9G>A
|
|
|
NM_030943.4(AMN):c.652-10C>T
|
|
|
NM_030943.4(AMN):c.652-12C>T
|
|
|
NM_030943.4(AMN):c.652-14G>A
|
|
|
NM_030943.4(AMN):c.652-14G>T
|
rs949145775
|
|
NM_030943.4(AMN):c.652-4C>T
|
|
|
NM_030943.4(AMN):c.660G>A (p.Pro220=)
|
|
|
NM_030943.4(AMN):c.672G>A (p.Ala224=)
|
|
|
NM_030943.4(AMN):c.672G>T (p.Ala224=)
|
|
|
NM_030943.4(AMN):c.678G>A (p.Leu226=)
|
|
|
NM_030943.4(AMN):c.687C>T (p.Pro229=)
|
|
|
NM_030943.4(AMN):c.690G>A (p.Leu230=)
|
|
|
NM_030943.4(AMN):c.693C>T (p.Gly231=)
|
|
|
NM_030943.4(AMN):c.702C>T (p.Cys234=)
|
|
|
NM_030943.4(AMN):c.705C>A (p.Pro235=)
|
|
|
NM_030943.4(AMN):c.705C>G (p.Pro235=)
|
|
|
NM_030943.4(AMN):c.711C>T (p.Ala237=)
|
|
|
NM_030943.4(AMN):c.723C>T (p.Ser241=)
|
|
|
NM_030943.4(AMN):c.732G>A (p.Arg244=)
|
|
|
NM_030943.4(AMN):c.753C>T (p.Asp251=)
|
|
|
NM_030943.4(AMN):c.756C>A (p.Leu252=)
|
|
|
NM_030943.4(AMN):c.756C>T (p.Leu252=)
|
|
|
NM_030943.4(AMN):c.75C>A (p.Val25=)
|
|
|
NM_030943.4(AMN):c.75C>T (p.Val25=)
|
|
|
NM_030943.4(AMN):c.760+12C>T
|
|
|
NM_030943.4(AMN):c.760+15C>T
|
|
|
NM_030943.4(AMN):c.760+16G>A
|
|
|
NM_030943.4(AMN):c.760+18G>A
|
|
|
NM_030943.4(AMN):c.760+8C>T
|
|
|
NM_030943.4(AMN):c.760+9C>T
|
|
|
NM_030943.4(AMN):c.761-14C>T
|
|
|
NM_030943.4(AMN):c.761-20C>A
|
|
|
NM_030943.4(AMN):c.761-20C>T
|
|
|
NM_030943.4(AMN):c.761-4G>A
|
|
|
NM_030943.4(AMN):c.761-8C>G
|
|
|
NM_030943.4(AMN):c.761-9C>A
|
|
|
NM_030943.4(AMN):c.762A>G (p.Gly254=)
|
|
|
NM_030943.4(AMN):c.775C>T (p.Leu259=)
|
|
|
NM_030943.4(AMN):c.780C>A (p.Thr260=)
|
|
|
NM_030943.4(AMN):c.783C>T (p.His261=)
|
|
|
NM_030943.4(AMN):c.789C>T (p.Pro263=)
|
|
|
NM_030943.4(AMN):c.798C>T (p.Asp266=)
|
|
|
NM_030943.4(AMN):c.801G>C (p.Leu267=)
|
rs1163660664
|
|
NM_030943.4(AMN):c.816G>A (p.Ala272=)
|
|
|
NM_030943.4(AMN):c.81C>T (p.Asn27=)
|
|
|
NM_030943.4(AMN):c.831C>T (p.Thr277=)
|
|
|
NM_030943.4(AMN):c.843+10C>A
|
|
|
NM_030943.4(AMN):c.843+11del
|
rs1467152225
|
|
NM_030943.4(AMN):c.843+13C>G
|
|
|
NM_030943.4(AMN):c.843+13C>T
|
|
|
NM_030943.4(AMN):c.843+14G>A
|
|
|
NM_030943.4(AMN):c.843+15C>T
|
|
|
NM_030943.4(AMN):c.843+20A>G
|
|
|
NM_030943.4(AMN):c.843+7G>A
|
|
|
NM_030943.4(AMN):c.844-11C>T
|
|
|
NM_030943.4(AMN):c.844-13T>A
|
|
|
NM_030943.4(AMN):c.844-15C>T
|
|
|
NM_030943.4(AMN):c.844-17C>G
|
|
|
NM_030943.4(AMN):c.844-17C>T
|
|
|
NM_030943.4(AMN):c.844-18C>A
|
|
|
NM_030943.4(AMN):c.855C>T (p.His285=)
|
|
|
NM_030943.4(AMN):c.861G>C (p.Leu287=)
|
|
|
NM_030943.4(AMN):c.870C>T (p.Ala290=)
|
|
|
NM_030943.4(AMN):c.888C>G (p.Arg296=)
|
|
|
NM_030943.4(AMN):c.915G>A (p.Thr305=)
|
|
|
NM_030943.4(AMN):c.918G>A (p.Glu306=)
|
|
|
NM_030943.4(AMN):c.921C>T (p.Ile307=)
|
|
|
NM_030943.4(AMN):c.945G>T (p.Gly315=)
|
|
|
NM_030943.4(AMN):c.954A>C (p.Thr318=)
|
|
|
NM_030943.4(AMN):c.954A>G (p.Thr318=)
|
|
|
NM_030943.4(AMN):c.957C>A (p.Gly319=)
|
|
|
NM_030943.4(AMN):c.967C>A (p.Arg323=)
|
|
|
NM_030943.4(AMN):c.96C>T (p.Val32=)
|
|
|
NM_030943.4(AMN):c.972G>A (p.Leu324=)
|
|
|
NM_030943.4(AMN):c.975C>T (p.Ala325=)
|
|
|
NM_030943.4(AMN):c.987G>A (p.Leu329=)
|
|
|
NM_030943.4(AMN):c.990G>A (p.Ala330=)
|
|
|
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_033022.4(RPS24):c.156G>A (p.Pro52=)
|
|
|
NM_033022.4(RPS24):c.156G>T (p.Pro52=)
|
rs150157180
|
|
NM_033022.4(RPS24):c.165C>T (p.Ile55=)
|
rs1589326814
|
|
NM_033022.4(RPS24):c.171A>T (p.Val57=)
|
|
|
NM_033022.4(RPS24):c.21C>A (p.Ile7=)
|
|
|
NM_033022.4(RPS24):c.246A>C (p.Ala82=)
|
rs1240034111
|
|
NM_033022.4(RPS24):c.255T>C (p.Asn85=)
|
|
|
NM_033022.4(RPS24):c.277A>C (p.Arg93=)
|
|
|
NM_033022.4(RPS24):c.279+14_279+18del
|
|
|
NM_033022.4(RPS24):c.279+17T>A
|
|
|
NM_033022.4(RPS24):c.279+20_279+27del
|
rs763970487
|
|
NM_033022.4(RPS24):c.280-11_280-10del
|
rs756756010
|
|
NM_033022.4(RPS24):c.280-14C>G
|
|
|
NM_033022.4(RPS24):c.280-19G>T
|
|
|
NM_033022.4(RPS24):c.280-6A>C
|
|
|
NM_033022.4(RPS24):c.280-6A>G
|
|
|
NM_033022.4(RPS24):c.297G>A (p.Lys99=)
|
rs1020277168
|
|
NM_033022.4(RPS24):c.3+14G>C
|
|
|
NM_033022.4(RPS24):c.3+16C>T
|
|
|
NM_033022.4(RPS24):c.3+17C>T
|
rs751476775
|
|
NM_033022.4(RPS24):c.3+20T>A
|
|
|
NM_033022.4(RPS24):c.3+7C>G
|
|
|
NM_033022.4(RPS24):c.3+9C>T
|
rs775865079
|
|
NM_033022.4(RPS24):c.366G>A (p.Lys122=)
|
|
|
NM_033022.4(RPS24):c.372T>C (p.Asn124=)
|
|
|
NM_033022.4(RPS24):c.384C>G (p.Gly128=)
|
|
|
NM_033022.4(RPS24):c.390+13A>C
|
|
|
NM_033022.4(RPS24):c.390+9C>T
|
|
|
NM_033022.4(RPS24):c.391-11C>T
|
|
|
NM_033022.4(RPS24):c.391-4dup
|
|
|
NM_033022.4(RPS24):c.391-6A>G
|
|
|
NM_033022.4(RPS24):c.4-11T>C
|
|
|
NM_033022.4(RPS24):c.4-16G>C
|
|
|
NM_033022.4(RPS24):c.4-20C>G
|
rs2131975997
|
|
NM_033022.4(RPS24):c.69+11G>A
|
|
|
NM_033022.4(RPS24):c.69+17C>T
|
|
|
NM_033022.4(RPS24):c.70-10C>T
|
rs1345822997
|
|
NM_033022.4(RPS24):c.70-14A>G
|
|
|
NM_033022.4(RPS24):c.70-15G>T
|
|
|
NM_033022.4(RPS24):c.81C>A (p.Val27=)
|
|
|
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
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NM_058216.3(RAD51C):c.999G>A (p.Lys333=)
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rs2049471981
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NM_058216.3(RAD51C):c.9G>A (p.Gly3=)
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rs751117852
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NM_058216.3(RAD51C):c.9G>T (p.Gly3=)
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rs751117852
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NM_182916.3(TRNT1):c.1023C>T (p.Asp341=)
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NM_182916.3(TRNT1):c.1027T>C (p.Leu343=)
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NM_182916.3(TRNT1):c.1047C>T (p.Phe349=)
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NM_182916.3(TRNT1):c.1056+13T>G
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NM_182916.3(TRNT1):c.1056+14A>T
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NM_182916.3(TRNT1):c.1056+4_1056+7dup
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rs759496973
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NM_182916.3(TRNT1):c.1056+6TA[2]
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rs1706140312
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NM_182916.3(TRNT1):c.1057-16T>G
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NM_182916.3(TRNT1):c.1057-7C>T
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rs368078167
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NM_182916.3(TRNT1):c.1057-8A>G
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NM_182916.3(TRNT1):c.1068T>C (p.Pro356=)
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NM_182916.3(TRNT1):c.1107A>G (p.Gln369=)
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NM_182916.3(TRNT1):c.1110A>G (p.Gly370=)
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rs1706172038
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NM_182916.3(TRNT1):c.1125A>G (p.Leu375=)
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rs2126038121
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NM_182916.3(TRNT1):c.1146C>T (p.Ser382=)
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NM_182916.3(TRNT1):c.1167T>C (p.Ser389=)
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NM_182916.3(TRNT1):c.120T>G (p.Leu40=)
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NM_182916.3(TRNT1):c.1219C>T (p.Leu407=)
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rs1315353435
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NM_182916.3(TRNT1):c.1281T>C (p.Leu427=)
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rs2126038514
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NM_182916.3(TRNT1):c.1284G>T (p.Leu428=)
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rs2126038544
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NM_182916.3(TRNT1):c.148+12G>A
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rs1342768108
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NM_182916.3(TRNT1):c.148+15T>C
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rs2126002342
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NM_182916.3(TRNT1):c.148+20_148+29del
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NM_182916.3(TRNT1):c.148+7G>A
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NM_182916.3(TRNT1):c.149-10C>G
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rs1247543296
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NM_182916.3(TRNT1):c.15G>A (p.Leu5=)
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NM_182916.3(TRNT1):c.168T>C (p.Asn56=)
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NM_182916.3(TRNT1):c.198G>A (p.Val66=)
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rs2126017403
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NM_182916.3(TRNT1):c.222G>A (p.Lys74=)
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NM_182916.3(TRNT1):c.261T>C (p.Thr87=)
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NM_182916.3(TRNT1):c.270G>A (p.Lys90=)
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NM_182916.3(TRNT1):c.285G>T (p.Ser95=)
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NM_182916.3(TRNT1):c.288T>C (p.Ala96=)
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rs2126017561
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NM_182916.3(TRNT1):c.339C>T (p.Ala113=)
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rs2126017687
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NM_182916.3(TRNT1):c.342+10A>C
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rs771121037
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NM_182916.3(TRNT1):c.342+17A>T
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rs1705398977
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NM_182916.3(TRNT1):c.343-16A>G
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NM_182916.3(TRNT1):c.343-20C>G
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NM_182916.3(TRNT1):c.36G>A (p.Val12=)
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rs1704814779
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NM_182916.3(TRNT1):c.384T>C (p.Asp128=)
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rs2126023030
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NM_182916.3(TRNT1):c.414A>T (p.Val138=)
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NM_182916.3(TRNT1):c.444G>A (p.Ala148=)
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NM_182916.3(TRNT1):c.462T>C (p.Thr154=)
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rs528296646
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NM_182916.3(TRNT1):c.478T>C (p.Leu160=)
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NM_182916.3(TRNT1):c.481+15T>C
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NM_182916.3(TRNT1):c.482-5A>G
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rs879788444
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NM_182916.3(TRNT1):c.482-7T>C
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NM_182916.3(TRNT1):c.482-9A>C
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NM_182916.3(TRNT1):c.522A>G (p.Glu174=)
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NM_182916.3(TRNT1):c.54T>C (p.Ser18=)
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NM_182916.3(TRNT1):c.555A>C (p.Gly185=)
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NM_182916.3(TRNT1):c.567G>A (p.Gln189=)
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NM_182916.3(TRNT1):c.598A>C (p.Arg200=)
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NM_182916.3(TRNT1):c.608+7A>G
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rs2126031354
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NM_182916.3(TRNT1):c.609-4G>C
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NM_182916.3(TRNT1):c.609-7C>T
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NM_182916.3(TRNT1):c.60G>A (p.Leu20=)
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rs2126002041
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NM_182916.3(TRNT1):c.60G>T (p.Leu20=)
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rs2126002041
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NM_182916.3(TRNT1):c.624T>A (p.Ile208=)
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rs367981406
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NM_182916.3(TRNT1):c.63C>T (p.Cys21=)
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rs1307913419
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NM_182916.3(TRNT1):c.67_68delinsTT (p.Pro23Leu)
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NM_182916.3(TRNT1):c.693T>A (p.Ala231=)
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rs2126034848
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NM_182916.3(TRNT1):c.747C>T (p.Asn249=)
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rs2126034966
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NM_182916.3(TRNT1):c.756T>C (p.Asn252=)
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rs2126034983
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NM_182916.3(TRNT1):c.768C>T (p.His256=)
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rs1411916026
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NM_182916.3(TRNT1):c.774C>T (p.Ile258=)
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NM_182916.3(TRNT1):c.795T>C (p.Pro265=)
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rs1174186377
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NM_182916.3(TRNT1):c.798T>C (p.Tyr266=)
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NM_182916.3(TRNT1):c.79C>T (p.Leu27=)
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NM_182916.3(TRNT1):c.802+15T>C
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NM_182916.3(TRNT1):c.802+16A>C
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NM_182916.3(TRNT1):c.802+16A>G
|
rs755030575
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NM_182916.3(TRNT1):c.802+18dup
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NM_182916.3(TRNT1):c.802+19G>A
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NM_182916.3(TRNT1):c.802+19G>C
|
rs2126035131
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NM_182916.3(TRNT1):c.802+20T>C
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NM_182916.3(TRNT1):c.802+20T>G
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rs2126035135
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NM_182916.3(TRNT1):c.802+22_802+25del
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rs758901089
|
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NM_182916.3(TRNT1):c.803-10G>A
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NM_182916.3(TRNT1):c.803-10G>T
|
rs776053995
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NM_182916.3(TRNT1):c.803-14T>C
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NM_182916.3(TRNT1):c.803-17T>C
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NM_182916.3(TRNT1):c.816T>C (p.Asn272=)
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rs2126036642
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NM_182916.3(TRNT1):c.81A>T (p.Leu27=)
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NM_182916.3(TRNT1):c.837C>T (p.Asp279=)
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NM_182916.3(TRNT1):c.843C>T (p.Val281=)
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NM_182916.3(TRNT1):c.852T>C (p.Asn284=)
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NM_182916.3(TRNT1):c.876A>G (p.Pro292=)
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NM_182916.3(TRNT1):c.886T>C (p.Leu296=)
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NM_182916.3(TRNT1):c.894A>G (p.Ser298=)
|
rs772847879
|
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NM_182916.3(TRNT1):c.906A>G (p.Val302=)
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NM_182916.3(TRNT1):c.912T>C (p.Asp304=)
|
rs2126036829
|
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NM_182916.3(TRNT1):c.931T>C (p.Leu311=)
|
rs2126036862
|
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NM_182916.3(TRNT1):c.948A>C (p.Ala316=)
|
rs1705805
|
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NM_182916.3(TRNT1):c.993A>G (p.Lys331=)
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NM_206965.2(FTCD):c.1002C>G (p.Gly334=)
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NM_206965.2(FTCD):c.1032G>C (p.Val344=)
|
rs373127146
|
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NM_206965.2(FTCD):c.1098+18_1098+19insGGGCGCTGTTGGGGGGAGGGCGGGGAG
|
rs2123530066
|
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NM_206965.2(FTCD):c.1098+20C>A
|
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NM_206965.2(FTCD):c.1261-18T>A
|
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NM_206965.2(FTCD):c.1261-8T>C
|
rs2123483793
|
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NM_206965.2(FTCD):c.1302C>T (p.Asp434=)
|
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NM_206965.2(FTCD):c.1304+16C>T
|
rs181554544
|
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NM_206965.2(FTCD):c.1317C>T (p.Ala439=)
|
rs377363402
|
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NM_206965.2(FTCD):c.1383G>T (p.Leu461=)
|
rs781255845
|
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NM_206965.2(FTCD):c.1389G>A (p.Pro463=)
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NM_206965.2(FTCD):c.1497C>T (p.Leu499=)
|
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NM_206965.2(FTCD):c.1540-17_1540-16del
|
rs747091513
|
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NM_206965.2(FTCD):c.1540-6C>T
|
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NM_206965.2(FTCD):c.1545C>T (p.His515=)
|
rs1447286926
|
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NM_206965.2(FTCD):c.1563C>T (p.Leu521=)
|
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NM_206965.2(FTCD):c.1608G>A (p.Leu536=)
|
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NM_206965.2(FTCD):c.171C>T (p.Cys57=)
|
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NM_206965.2(FTCD):c.198C>T (p.Ala66=)
|
rs1601356124
|
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NM_206965.2(FTCD):c.219C>T (p.Ile73=)
|
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NM_206965.2(FTCD):c.239-12G>A
|
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NM_206965.2(FTCD):c.367+11C>T
|
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NM_206965.2(FTCD):c.367+16C>T
|
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NM_206965.2(FTCD):c.367+17del
|
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NM_206965.2(FTCD):c.367+18C>G
|
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NM_206965.2(FTCD):c.368-14G>A
|
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NM_206965.2(FTCD):c.456+14G>A
|
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NM_206965.2(FTCD):c.456+17C>T
|
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NM_206965.2(FTCD):c.469G>T (p.Asp157Tyr)
|
rs532226691
|
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NM_206965.2(FTCD):c.471C>T (p.Asp157=)
|
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NM_206965.2(FTCD):c.528G>A (p.Thr176=)
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NM_206965.2(FTCD):c.54+10G>A
|
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NM_206965.2(FTCD):c.54+14A>T
|
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NM_206965.2(FTCD):c.54+9C>T
|
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NM_206965.2(FTCD):c.55-14G>T
|
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NM_206965.2(FTCD):c.55-16C>T
|
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NM_206965.2(FTCD):c.597C>T (p.Ile199=)
|
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NM_206965.2(FTCD):c.60C>T (p.Ile20=)
|
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|
NM_206965.2(FTCD):c.624C>T (p.Arg208=)
|
rs775966116
|
|
NM_206965.2(FTCD):c.637-14C>T
|
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|
NM_206965.2(FTCD):c.654A>G (p.Lys218=)
|
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NM_206965.2(FTCD):c.774+7C>G
|
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|
NM_206965.2(FTCD):c.774+9G>A
|
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NM_206965.2(FTCD):c.775-20C>T
|
|
|
NM_206965.2(FTCD):c.969-15_969-14delinsTT
|
rs796677845
|
|
NM_206965.2(FTCD):c.987C>G (p.Arg329=)
|
|
|