NM_003126.4(SPTA1):c.6531-12C>T
|
rs28525570
|
0.25447
|
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val)
|
rs3737515
|
0.25425
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)
|
rs45562031
|
0.01150
|
NM_001063.4(TF):c.1623-63del
|
rs8177291
|
0.01085
|
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp)
|
rs142775522
|
0.00499
|
NM_030943.4(AMN):c.1170-6C>T
|
rs386834164
|
0.00296
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_001081.4(CUBN):c.6125-2A>G
|
rs75386064
|
0.00226
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
NM_001081.4(CUBN):c.6821+2T>C
|
rs150901286
|
0.00083
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)
|
rs145247580
|
0.00063
|
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe)
|
rs77375493
|
0.00036
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
0.00034
|
NM_020207.7(ERCC6L2):c.19C>T (p.Gln7Ter)
|
rs778926161
|
0.00031
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_001081.4(CUBN):c.3890C>T (p.Pro1297Leu)
|
rs121434430
|
0.00027
|
NM_000518.5(HBB):c.-138C>T
|
rs33944208
|
0.00021
|
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)
|
rs139547269
|
0.00020
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_015506.3(MMACHC):c.472T>C (p.Phe158Leu)
|
rs201312386
|
0.00019
|
NM_015506.3(MMACHC):c.617G>A (p.Arg206Gln)
|
rs371753672
|
0.00017
|
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_138477.2(CDAN1):c.2015C>T (p.Pro672Leu)
|
rs120074167
|
0.00013
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
NM_000365.6(TPI1):c.315G>C (p.Glu105Asp)
|
rs121964845
|
0.00012
|
NM_001081.4(CUBN):c.348+2T>C
|
rs146047781
|
0.00012
|
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)
|
rs372918203
|
0.00012
|
NM_001113378.2(FANCI):c.3041G>A (p.Cys1014Tyr)
|
rs140404896
|
0.00011
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_001083116.3(PRF1):c.1153C>T (p.Arg385Trp)
|
rs551046401
|
0.00009
|
NM_002454.3(MTRR):c.1769+1G>A
|
rs778738842
|
0.00009
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
NM_138477.4(CDAN1):c.156C>G (p.Phe52Leu)
|
rs80338694
|
0.00009
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
NM_001018115.3(FANCD2):c.1279-2A>G
|
rs748006255
|
0.00008
|
NM_005142.3(CBLIF):c.137C>T (p.Ser46Leu)
|
rs121434322
|
0.00008
|
NM_020937.4(FANCM):c.4318-1G>A
|
rs752228025
|
0.00008
|
NM_138477.4(CDAN1):c.2140C>T (p.Arg714Trp)
|
rs80338696
|
0.00008
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_001040436.3(YARS2):c.751A>G (p.Ile251Val)
|
rs372098364
|
0.00007
|
NM_001081.4(CUBN):c.1010C>T (p.Pro337Leu)
|
rs202153130
|
0.00007
|
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter)
|
rs374538208
|
0.00007
|
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)
|
rs779544327
|
0.00007
|
NM_018368.4(LMBRD1):c.1338+2T>C
|
rs147270670
|
0.00007
|
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys)
|
rs142377616
|
0.00006
|
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)
|
rs149277003
|
0.00006
|
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)
|
rs149797103
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met)
|
rs144071404
|
0.00006
|
NM_000518.5(HBB):c.75T>A (p.Gly25=)
|
rs33951465
|
0.00006
|
NM_001083116.3(PRF1):c.666C>A (p.His222Gln)
|
rs751247865
|
0.00006
|
NM_001374504.1(TMPRSS6):c.1534G>A (p.Asp512Asn)
|
rs137853120
|
0.00006
|
NM_002485.5(NBN):c.127C>T (p.Arg43Ter)
|
rs200287925
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00006
|
NM_032043.3(BRIP1):c.918+1G>A
|
rs587781655
|
0.00006
|
NM_182916.3(TRNT1):c.488A>T (p.Asp163Val)
|
rs146717589
|
0.00006
|
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)
|
rs372254398
|
0.00005
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_001113378.2(FANCI):c.3853C>T (p.Arg1285Ter)
|
rs121918164
|
0.00005
|
NM_000135.4(FANCA):c.3349-1G>A
|
rs769862233
|
0.00004
|
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)
|
rs762902309
|
0.00004
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00004
|
NM_000175.5(GPI):c.1336C>T (p.Arg446Ter)
|
rs774419705
|
0.00004
|
NM_000254.3(MTR):c.250-1G>C
|
rs145939391
|
0.00004
|
NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)
|
rs374547385
|
0.00004
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
NM_000518.5(HBB):c.-137C>A
|
rs33941377
|
0.00004
|
NM_000518.5(HBB):c.-140C>T
|
rs34999973
|
0.00004
|
NM_001018115.3(FANCD2):c.2380C>T (p.Arg794Ter)
|
rs755350165
|
0.00004
|
NM_001040436.3(YARS2):c.933C>G (p.Asp311Glu)
|
rs745595833
|
0.00004
|
NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)
|
rs139322149
|
0.00004
|
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs)
|
rs1564723449
|
0.00004
|
NM_001142864.4(PIEZO1):c.6380C>T (p.Thr2127Met)
|
rs587776991
|
0.00004
|
NM_001355436.2(SPTB):c.6068C>T (p.Ala2023Val)
|
rs367841692
|
0.00004
|
NM_001374504.1(TMPRSS6):c.1297G>A (p.Gly433Arg)
|
rs137853119
|
0.00004
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
NM_006363.6(SEC23B):c.970C>T (p.Arg324Ter)
|
rs121918225
|
0.00004
|
NM_018062.4(FANCL):c.472-1G>C
|
rs768814501
|
0.00004
|
NM_020937.4(FANCM):c.5340+1G>T
|
rs754297345
|
0.00004
|
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)
|
rs775076977
|
0.00004
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro)
|
rs149364097
|
0.00004
|
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys)
|
rs752309409
|
0.00004
|
NM_182916.3(TRNT1):c.1246A>G (p.Lys416Glu)
|
rs199931785
|
0.00004
|
NM_182916.3(TRNT1):c.829G>T (p.Glu277Ter)
|
rs370699359
|
0.00004
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
NM_000254.3(MTR):c.2404C>T (p.Arg802Ter)
|
rs138695265
|
0.00003
|
NM_000342.4(SLC4A1):c.713A>T (p.Glu238Val)
|
rs571740084
|
0.00003
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
NM_000518.5(HBB):c.316-7C>A
|
rs34483965
|
0.00003
|
NM_001018115.3(FANCD2):c.2605+1G>A
|
rs142365855
|
0.00003
|
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
0.00003
|
NM_001081.4(CUBN):c.6095G>A (p.Cys2032Tyr)
|
rs201720797
|
0.00003
|
NM_001083116.3(PRF1):c.503G>A (p.Ser168Asn)
|
rs779399414
|
0.00003
|
NM_001113378.2(FANCI):c.1891-2A>G
|
rs776329920
|
0.00003
|
NM_001113378.2(FANCI):c.3622_3623del (p.Leu1208fs)
|
rs1491132258
|
0.00003
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)
|
rs761221416
|
0.00003
|
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)
|
rs995629797
|
0.00003
|
NM_025215.6(PUS1):c.430C>T (p.Arg144Trp)
|
rs104894371
|
0.00003
|
NM_032043.3(BRIP1):c.2543G>A (p.Arg848His)
|
rs374334794
|
0.00003
|
NM_032444.4(SLX4):c.4089_4090del (p.Asp1365fs)
|
rs748930384
|
0.00003
|
NM_000096.4(CP):c.1948G>A (p.Gly650Arg)
|
rs776936158
|
0.00002
|
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)
|
rs148473140
|
0.00002
|
NM_000135.4(FANCA):c.1777-1G>C
|
rs755104393
|
0.00002
|
NM_000135.4(FANCA):c.190-2A>T
|
rs183350210
|
0.00002
|
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)
|
rs142833057
|
0.00002
|
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)
|
rs730881709
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)
|
rs781542763
|
0.00002
|
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)
|
rs377294947
|
0.00002
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)
|
rs1242741686
|
0.00002
|
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp)
|
rs121965016
|
0.00002
|
NM_000402.4(G6PD):c.298T>C (p.Tyr100His)
|
rs137852349
|
0.00002
|
NM_000402.4(G6PD):c.944G>A (p.Arg315His)
|
rs74575103
|
0.00002
|
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)
|
rs35424040
|
0.00002
|
NM_001018115.3(FANCD2):c.1222C>T (p.Arg408Ter)
|
rs771869385
|
0.00002
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
0.00002
|
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter)
|
rs756614749
|
0.00002
|
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter)
|
rs370038232
|
0.00002
|
NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys)
|
rs758110629
|
0.00002
|
NM_001083116.3(PRF1):c.836G>A (p.Cys279Tyr)
|
rs104894182
|
0.00002
|
NM_001083116.3(PRF1):c.886T>C (p.Tyr296His)
|
rs148237800
|
0.00002
|
NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)
|
rs1432325198
|
0.00002
|
NM_001113378.2(FANCI):c.3676dup (p.Thr1226fs)
|
rs773847168
|
0.00002
|
NM_001360016.2(G6PD):c.209A>G (p.Tyr70Cys)
|
rs782090947
|
0.00002
|
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)
|
rs979416826
|
0.00002
|
NM_001360016.2(G6PD):c.477G>C (p.Met159Ile)
|
rs370918918
|
0.00002
|
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe)
|
rs782757170
|
0.00002
|
NM_002454.3(MTRR):c.166G>A (p.Val56Met)
|
rs761061866
|
0.00002
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
NM_005373.3(MPL):c.460T>C (p.Trp154Arg)
|
rs758428763
|
0.00002
|
NM_015702.3(MMADHC):c.776T>C (p.Leu259Pro)
|
rs118204044
|
0.00002
|
NM_018368.4(LMBRD1):c.1339-1G>T
|
rs768709895
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
NM_030943.4(AMN):c.122C>T (p.Thr41Ile)
|
rs119478058
|
0.00002
|
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)
|
rs876659533
|
0.00002
|
NM_058216.3(RAD51C):c.571+5G>A
|
rs145779113
|
0.00002
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
NM_138477.4(CDAN1):c.3200G>A (p.Arg1067His)
|
rs146049960
|
0.00002
|
NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr)
|
rs137852304
|
0.00001
|
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys)
|
rs80359013
|
0.00001
|
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)
|
rs1280130060
|
0.00001
|
NM_000135.4(FANCA):c.1226-2A>G
|
rs773906241
|
0.00001
|
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)
|
rs757504102
|
0.00001
|
NM_000135.4(FANCA):c.1776+1G>A
|
rs756140957
|
0.00001
|
NM_000135.4(FANCA):c.189+1G>T
|
rs891323617
|
0.00001
|
NM_000135.4(FANCA):c.1900+1G>A
|
rs1598120768
|
0.00001
|
NM_000135.4(FANCA):c.1944del (p.Glu648fs)
|
rs1555549451
|
0.00001
|
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)
|
rs1448463647
|
0.00001
|
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro)
|
rs762526878
|
0.00001
|
NM_000135.4(FANCA):c.2222+1G>A
|
rs775388912
|
0.00001
|
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)
|
rs1490352414
|
0.00001
|
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)
|
rs1173704265
|
0.00001
|
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)
|
rs752160950
|
0.00001
|
NM_000135.4(FANCA):c.2601+1G>T
|
rs1188581065
|
0.00001
|
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)
|
rs780825099
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
NM_000135.4(FANCA):c.3513+1G>A
|
rs1188082371
|
0.00001
|
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)
|
rs1374769712
|
0.00001
|
NM_000135.4(FANCA):c.3766-2A>G
|
rs1219402916
|
0.00001
|
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)
|
rs753700179
|
0.00001
|
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)
|
rs182657062
|
0.00001
|
NM_000135.4(FANCA):c.3G>T (p.Met1Ile)
|
rs1555581729
|
0.00001
|
NM_000135.4(FANCA):c.4011-3_4011-2del
|
rs911481295
|
0.00001
|
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)
|
rs745882980
|
0.00001
|
NM_000135.4(FANCA):c.522+1G>T
|
rs1365019056
|
0.00001
|
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)
|
rs1384166265
|
0.00001
|
NM_000135.4(FANCA):c.597-1G>C
|
rs147945881
|
0.00001
|
NM_000135.4(FANCA):c.709+5G>A
|
rs759877008
|
0.00001
|
NM_000135.4(FANCA):c.79+1G>A
|
rs1483028018
|
0.00001
|
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)
|
rs372163487
|
0.00001
|
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)
|
rs1291524243
|
0.00001
|
NM_000135.4(FANCA):c.894-2A>G
|
rs976556567
|
0.00001
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
NM_000136.3(FANCC):c.-79+1G>A
|
rs1228886763
|
0.00001
|
NM_000136.3(FANCC):c.108_109dup (p.His37fs)
|
rs1057517131
|
0.00001
|
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)
|
rs944083227
|
0.00001
|
NM_000136.3(FANCC):c.1329+1G>T
|
rs1554829441
|
0.00001
|
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)
|
rs1410356625
|
0.00001
|
NM_000136.3(FANCC):c.1533+1G>C
|
rs753885687
|
0.00001
|
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)
|
rs867319477
|
0.00001
|
NM_000136.3(FANCC):c.166-2A>G
|
rs587777945
|
0.00001
|
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)
|
rs1057516291
|
0.00001
|
NM_000136.3(FANCC):c.345+1G>A
|
rs1175257797
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000136.3(FANCC):c.522-1G>C
|
rs1014112491
|
0.00001
|
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)
|
rs769039987
|
0.00001
|
NM_000136.3(FANCC):c.844-1G>C
|
rs774209201
|
0.00001
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
NM_000175.5(GPI):c.1648A>G (p.Lys550Glu)
|
rs933668811
|
0.00001
|
NM_000175.5(GPI):c.572A>G (p.His191Arg)
|
rs758281551
|
0.00001
|
NM_000186.4(CFH):c.157C>T (p.Arg53Cys)
|
rs757785149
|
0.00001
|
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)
|
rs460184
|
0.00001
|
NM_000186.4(CFH):c.3616C>T (p.Arg1206Cys)
|
rs1573087364
|
0.00001
|
NM_000254.3(MTR):c.1812+1G>A
|
rs778242201
|
0.00001
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
NM_000289.6(PFKM):c.1191+1G>A
|
rs746348793
|
0.00001
|
NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)
|
rs41291965
|
0.00001
|
NM_000289.6(PFKM):c.1413-2A>G
|
rs1430517061
|
0.00001
|
NM_000289.6(PFKM):c.1500+1G>A
|
rs770066278
|
0.00001
|
NM_000289.6(PFKM):c.936+1G>A
|
rs1949974650
|
0.00001
|
NM_000298.6(PKLR):c.1082A>C (p.Asn361Thr)
|
rs1358047518
|
0.00001
|
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser)
|
rs776594413
|
0.00001
|
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln)
|
rs768002493
|
0.00001
|
NM_000298.6(PKLR):c.1291G>A (p.Ala431Thr)
|
rs762591322
|
0.00001
|
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)
|
rs28931584
|
0.00001
|
NM_000342.4(SLC4A1):c.1468C>T (p.Arg490Cys)
|
rs1398477044
|
0.00001
|
NM_000342.4(SLC4A1):c.695-3C>A
|
rs772264078
|
0.00001
|
NM_000375.3(UROS):c.7G>T (p.Val3Phe)
|
rs773301339
|
0.00001
|
NM_000398.7(CYB5R3):c.547+1G>A
|
rs1161477501
|
0.00001
|
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys)
|
rs543277216
|
0.00001
|
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly)
|
rs121965018
|
0.00001
|
NM_000398.7(CYB5R3):c.806C>T (p.Pro269Leu)
|
rs754251915
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000518.5(HBB):c.*111A>G
|
rs63751128
|
0.00001
|
NM_000518.5(HBB):c.-136C>T
|
rs33994806
|
0.00001
|
NM_000518.5(HBB):c.-78A>G
|
rs33931746
|
0.00001
|
NM_000518.5(HBB):c.114G>A (p.Trp38Ter)
|
rs33974936
|
0.00001
|
NM_000518.5(HBB):c.217dup (p.Ser73fs)
|
rs33969853
|
0.00001
|
NM_001018113.3(FANCB):c.1327-1G>A
|
rs1295003944
|
0.00001
|
NM_001018115.3(FANCD2):c.1077_1078insTGGA (p.Ile360fs)
|
rs763733996
|
0.00001
|
NM_001018115.3(FANCD2):c.1279G>T (p.Val427Phe)
|
rs529893298
|
0.00001
|
NM_001018115.3(FANCD2):c.1370T>C (p.Leu457Pro)
|
rs1181436417
|
0.00001
|
NM_001018115.3(FANCD2):c.2494+2T>C
|
rs779552164
|
0.00001
|
NM_001018115.3(FANCD2):c.2976+5G>A
|
rs748710535
|
0.00001
|
NM_001018115.3(FANCD2):c.3299_3300del (p.Gln1100fs)
|
rs770686014
|
0.00001
|
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)
|
rs369022159
|
0.00001
|
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)
|
rs121917786
|
0.00001
|
NM_001018115.3(FANCD2):c.3799del (p.Tyr1267fs)
|
rs775517107
|
0.00001
|
NM_001018115.3(FANCD2):c.491+1G>A
|
rs943009372
|
0.00001
|
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
NM_001018115.3(FANCD2):c.904C>T (p.Arg302Trp)
|
rs121917787
|
0.00001
|
NM_001040436.3(YARS2):c.634G>T (p.Glu212Ter)
|
rs762813092
|
0.00001
|
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter)
|
rs145818316
|
0.00001
|
NM_001081.4(CUBN):c.1865del (p.Thr622fs)
|
rs386833771
|
0.00001
|
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer)
|
rs386833781
|
0.00001
|
NM_001081.4(CUBN):c.4168G>A (p.Gly1390Ser)
|
rs386833787
|
0.00001
|
NM_001081.4(CUBN):c.4856-1del
|
rs750520309
|
0.00001
|
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter)
|
rs1461982823
|
0.00001
|
NM_001083116.3(PRF1):c.1066C>T (p.Arg356Trp)
|
rs746365230
|
0.00001
|
NM_001083116.3(PRF1):c.1304C>T (p.Thr435Met)
|
rs28933376
|
0.00001
|
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)
|
rs764596094
|
0.00001
|
NM_001083116.3(PRF1):c.227G>A (p.Cys76Tyr)
|
rs776657932
|
0.00001
|
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp)
|
rs202217604
|
0.00001
|
NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser)
|
rs763002067
|
0.00001
|
NM_001113378.2(FANCI):c.1597C>T (p.Arg533Ter)
|
rs1347292940
|
0.00001
|
NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe)
|
rs138808921
|
0.00001
|
NM_001113378.2(FANCI):c.2422A>T (p.Lys808Ter)
|
rs375656231
|
0.00001
|
NM_001113378.2(FANCI):c.2509G>T (p.Glu837Ter)
|
rs748000458
|
0.00001
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
NM_001113378.2(FANCI):c.3006+3A>G
|
rs1294973649
|
0.00001
|
NM_001113378.2(FANCI):c.3058+1G>A
|
rs149464307
|
0.00001
|
NM_001113378.2(FANCI):c.3623dup (p.Cys1209fs)
|
rs756691827
|
0.00001
|
NM_001113378.2(FANCI):c.3721-1G>C
|
rs1173483373
|
0.00001
|
NM_001114134.2(EPB42):c.1501del (p.Ser501fs)
|
rs777764528
|
0.00001
|
NM_001114134.2(EPB42):c.832G>C (p.Val278Leu)
|
rs772330879
|
0.00001
|
NM_001142864.4(PIEZO1):c.3197A>G (p.Asp1066Gly)
|
rs1904552378
|
0.00001
|
NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser)
|
rs587777101
|
0.00001
|
NM_001360016.2(G6PD):c.1004C>A (p.Ala335Asp)
|
rs1557229854
|
0.00001
|
NM_001360016.2(G6PD):c.1347G>C (p.Gln449His)
|
rs1557229572
|
0.00001
|
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn)
|
rs782317415
|
0.00001
|
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)
|
rs782308266
|
0.00001
|
NM_001360016.2(G6PD):c.551C>T (p.Ser184Phe)
|
rs782315572
|
0.00001
|
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met)
|
rs782771682
|
0.00001
|
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn)
|
rs781906610
|
0.00001
|
NM_001374504.1(TMPRSS6):c.1038C>A (p.Tyr346Ter)
|
rs137853121
|
0.00001
|
NM_001374504.1(TMPRSS6):c.1355del (p.Glu452fs)
|
rs1384933966
|
0.00001
|
NM_001374504.1(TMPRSS6):c.1768C>T (p.Arg590Ter)
|
rs137853123
|
0.00001
|
NM_001376013.1(EPB41):c.1944+1G>C
|
rs1477424620
|
0.00001
|
NM_001386140.1(MTTP):c.1099C>T (p.Gln367Ter)
|
rs1171996547
|
0.00001
|
NM_001386140.1(MTTP):c.1868-2A>G
|
rs760547155
|
0.00001
|
NM_001386140.1(MTTP):c.1949del (p.Ile650fs)
|
rs1725952378
|
0.00001
|
NM_001386140.1(MTTP):c.400G>T (p.Glu134Ter)
|
rs760855321
|
0.00001
|
NM_002454.3(MTRR):c.1554_1557+3del
|
rs754619743
|
0.00001
|
NM_002454.3(MTRR):c.1780A>T (p.Arg594Ter)
|
rs1293600145
|
0.00001
|
NM_002454.3(MTRR):c.401+1G>A
|
rs1400065323
|
0.00001
|
NM_002485.5(NBN):c.11del (p.Leu4fs)
|
rs1064793210
|
0.00001
|
NM_002485.5(NBN):c.1716dup (p.Glu573fs)
|
rs1060503483
|
0.00001
|
NM_002485.5(NBN):c.1741C>T (p.Gln581Ter)
|
rs1337679118
|
0.00001
|
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)
|
rs1554568427
|
0.00001
|
NM_002485.5(NBN):c.2234+2T>G
|
rs142301194
|
0.00001
|
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)
|
rs1057516320
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
NM_003126.4(SPTA1):c.137G>T (p.Gly46Val)
|
rs121918638
|
0.00001
|
NM_004629.2(FANCG):c.1589_1591del (p.Asp530_Thr531delinsAla)
|
rs767443643
|
0.00001
|
NM_004629.2(FANCG):c.1637-2del
|
rs1224034435
|
0.00001
|
NM_004629.2(FANCG):c.175+1G>A
|
rs927868500
|
0.00001
|
NM_004629.2(FANCG):c.1761-2A>C
|
rs765150956
|
0.00001
|
NM_004629.2(FANCG):c.85-2A>T
|
rs759590778
|
0.00001
|
NM_004629.2(FANCG):c.976G>T (p.Glu326Ter)
|
rs754484649
|
0.00001
|
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)
|
rs1410990711
|
0.00001
|
NM_005236.3(ERCC4):c.1102+1G>T
|
rs1314323456
|
0.00001
|
NM_005373.3(MPL):c.1431G>A (p.Trp477Ter)
|
rs1169744090
|
0.00001
|
NM_005373.3(MPL):c.1566-1G>A
|
rs1570474015
|
0.00001
|
NM_005373.3(MPL):c.981-1G>C
|
rs769297582
|
0.00001
|
NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys)
|
rs780978419
|
0.00001
|
NM_006363.6(SEC23B):c.1571C>T (p.Ala524Val)
|
rs398124225
|
0.00001
|
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)
|
rs121918223
|
0.00001
|
NM_006996.3(SLC19A2):c.1001G>A (p.Gly334Asp)
|
rs199921604
|
0.00001
|
NM_015506.3(MMACHC):c.349G>C (p.Ala117Pro)
|
rs752205161
|
0.00001
|
NM_015506.3(MMACHC):c.384del (p.Tyr129fs)
|
rs1347498294
|
0.00001
|
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)
|
rs372670428
|
0.00001
|
NM_015506.3(MMACHC):c.434dup (p.Ser146fs)
|
rs768978351
|
0.00001
|
NM_015506.3(MMACHC):c.439G>A (p.Gly147Ser)
|
rs1553162901
|
0.00001
|
NM_015506.3(MMACHC):c.616C>T (p.Arg206Trp)
|
rs538023671
|
0.00001
|
NM_015702.3(MMADHC):c.10-1G>C
|
rs1573880177
|
0.00001
|
NM_015702.3(MMADHC):c.154+1G>A
|
rs1385597423
|
0.00001
|
NM_015702.3(MMADHC):c.372+1G>A
|
rs755561981
|
0.00001
|
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)
|
rs118204046
|
0.00001
|
NM_016038.4(SBDS):c.505C>T (p.Arg169Cys)
|
rs113993996
|
0.00001
|
NM_016038.4(SBDS):c.523C>T (p.Arg175Trp)
|
rs774976459
|
0.00001
|
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter)
|
rs113993998
|
0.00001
|
NM_018062.4(FANCL):c.216+1G>T
|
rs1205006300
|
0.00001
|
NM_018062.4(FANCL):c.273+1G>C
|
rs144729980
|
0.00001
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
NM_018062.4(FANCL):c.692-2A>G
|
rs1558737575
|
0.00001
|
NM_018368.4(LMBRD1):c.562+1G>A
|
rs372279393
|
0.00001
|
NM_020937.4(FANCM):c.1397-1G>T
|
rs1887394029
|
0.00001
|
NM_021922.3(FANCE):c.1114-8G>A
|
rs878854342
|
0.00001
|
NM_021922.3(FANCE):c.1238-1G>C
|
rs1767507722
|
0.00001
|
NM_021922.3(FANCE):c.1509+1G>A
|
rs745877509
|
0.00001
|
NM_021922.3(FANCE):c.1510-1G>A
|
rs772678337
|
0.00001
|
NM_021922.3(FANCE):c.248+1del
|
rs1767163932
|
0.00001
|
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)
|
rs752690798
|
0.00001
|
NM_021922.3(FANCE):c.297del (p.Met99fs)
|
rs754850404
|
0.00001
|
NM_022725.4(FANCF):c.690del (p.Gly231fs)
|
rs747622521
|
0.00001
|
NM_025215.6(PUS1):c.717C>A (p.Tyr239Ter)
|
rs779651314
|
0.00001
|
NM_030943.4(AMN):c.1257+10C>T
|
rs386834166
|
0.00001
|
NM_030943.4(AMN):c.844-1G>C
|
rs969552874
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.1794+1G>A
|
rs766516963
|
0.00001
|
NM_032043.3(BRIP1):c.1794+1G>C
|
rs766516963
|
0.00001
|
NM_032043.3(BRIP1):c.206-2A>G
|
rs786203700
|
0.00001
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)
|
rs587782574
|
0.00001
|
NM_032043.3(BRIP1):c.2379+1G>A
|
rs1555590286
|
0.00001
|
NM_032043.3(BRIP1):c.2777C>T (p.Ala926Val)
|
rs1483709056
|
0.00001
|
NM_032043.3(BRIP1):c.3230T>G (p.Leu1077Ter)
|
rs1420431000
|
0.00001
|
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
|
rs1265030199
|
0.00001
|
NM_032444.4(SLX4):c.2137C>T (p.Arg713Ter)
|
rs760126773
|
0.00001
|
NM_032444.4(SLX4):c.2469G>A (p.Trp823Ter)
|
rs1267428175
|
0.00001
|
NM_032444.4(SLX4):c.3895_3896del (p.Arg1299fs)
|
rs763914156
|
0.00001
|
NM_032444.4(SLX4):c.4739+1G>T
|
rs759186986
|
0.00001
|
NM_032444.4(SLX4):c.4739+2T>C
|
rs774356384
|
0.00001
|
NM_032444.4(SLX4):c.860del (p.Ser287fs)
|
rs752720263
|
0.00001
|
NM_058216.3(RAD51C):c.1005C>A (p.Cys335Ter)
|
rs759292615
|
0.00001
|
NM_058216.3(RAD51C):c.404+2T>C
|
rs730881931
|
0.00001
|
NM_058216.3(RAD51C):c.414G>C (p.Leu138Phe)
|
rs267606999
|
0.00001
|
NM_058216.3(RAD51C):c.572-2A>G
|
rs145310733
|
0.00001
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)
|
rs876659874
|
0.00001
|
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln)
|
rs779834376
|
0.00001
|
NM_182916.3(TRNT1):c.1010del (p.Thr337fs)
|
rs772805677
|
0.00001
|
NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)
|
rs1422814635
|
0.00001
|
46;XX;t(4;14)(p15.2;q13)dn
|
|
|
G6PD A-
|
|
|
G6PD NARA
|
rs587776730
|
|
NC_000002.12:g.(?_58159755)_(58165884_?)del
|
|
|
NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
|
|
|
NC_000003.11:g.(?_10068070)_(10070406_10074515)del
|
|
|
NC_000003.11:g.(?_10068070)_(10094182_10101977)del
|
|
|
NC_000003.11:g.(?_10084233)_(10085286_?)del
|
|
|
NC_000003.11:g.(?_10091048)_(10140634_?)del
|
|
|
NC_000003.11:g.(?_10132039)_(10132856_?)del
|
|
|
NC_000003.11:g.(?_197680864)_(197682644_?)del
|
|
|
NC_000003.11:g.(?_3179743)_(3189406_?)del
|
|
|
NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
|
|
|
NC_000005.10:g.(?_7883145)_(7892923_?)del
|
|
|
NC_000005.9:g.(?_7889198)_(7897370_?)del
|
|
|
NC_000006.11:g.(?_35423579)_(35424285_?)del
|
|
|
NC_000006.11:g.(?_35423579)_35424285del
|
|
|
NC_000006.12:g.(?_34417506)_(34421817_?)del
|
|
|
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
|
|
|
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
|
|
|
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
|
|
|
NC_000009.11:g.(?_97876901)_(97934439_?)dup
|
|
|
NC_000009.12:g.(?_95171069)_(95172157_?)dup
|
|
|
NC_000011.9:g.(?_59603261)_(59604844_?)dup
|
|
|
NC_000014.8:g.(74764773_74766250)_(74769768_?)del
|
|
|
NC_000014.8:g.(?_45618020)_(45669211_?)del
|
|
|
NC_000014.8:g.(?_45623113)_(45669211_?)del
|
|
|
NC_000014.8:g.(?_45628293)_(45628489_?)dup
|
|
|
NC_000014.9:g.(?_45153910)_(45200018_?)del
|
|
|
NC_000014.9:g.95696766_96390792dup
|
|
|
NC_000015.9:g.(?_89843021)_(89860052_?)del
|
|
|
NC_000016.10:g.(?_89758567)_(89762032_?)dup
|
|
|
NC_000016.10:g.(?_89764807)_(89779967_?)del
|
|
|
NC_000016.10:g.(?_89764884)_(89779963_?)del
|
|
|
NC_000016.10:g.(?_89791393)_(89799648_?)del
|
|
|
NC_000016.9:g.(89831475_89833548)_(89883066_?)del
|
|
|
NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
|
|
|
NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
|
|
|
NC_000016.9:g.(?_3634750)_(3634892_?)dup
|
|
|
NC_000016.9:g.(?_3634764)_(3634878_?)dup
|
|
|
NC_000016.9:g.(?_89804999)_(89871810_?)del
|
|
|
NC_000016.9:g.(?_89811357)_(89851382_?)dup
|
|
|
NC_000016.9:g.(?_89811367)_(89851372_?)dup
|
|
|
NC_000016.9:g.(?_89816056)_(89816320_?)dup
|
|
|
NC_000016.9:g.(?_89818526)_(89833665_?)dup
|
|
|
NC_000016.9:g.(?_89818536)_(89818822_?)dup
|
|
|
NC_000016.9:g.(?_89824976)_(89831435_?)del
|
|
|
NC_000016.9:g.(?_89828347)_(89846375_?)dup
|
|
|
NC_000016.9:g.(?_89831215)_(89874785_?)del
|
|
|
NC_000016.9:g.(?_89842140)_(89851382_?)dup
|
|
|
NC_000016.9:g.(?_89857801)_(89881031_?)del
|
|
|
NC_000016.9:g.(?_89864654)_(89866056_?)dup
|
|
|
NC_000016.9:g.(?_89869657)_(89877489_?)dup
|
|
|
NC_000017.10:g.(?_56774149)_(56777997_?)del
|
|
|
NC_000017.10:g.(?_56780547)_(56787361_?)dup
|
|
|
NC_000017.10:g.(?_56798101)_(56798179_?)dup
|
|
|
NC_000017.10:g.(?_56811469)_(56811583_?)del
|
|
|
NC_000017.10:g.(?_59770781)_(59770883_?)dup
|
|
|
NC_000017.10:g.(?_59770785)_(59770879_?)dup
|
|
|
NC_000017.10:g.(?_59858191)_(59858864_?)dup
|
|
|
NC_000017.10:g.(?_59861621)_(59937278_?)dup
|
|
|
NC_000017.10:g.(?_59861625)_(59937274_?)dup
|
|
|
NC_000017.10:g.(?_59870948)_(59886128_?)dup
|
|
|
NC_000017.10:g.(?_59878604)_(59878845_?)del
|
|
|
NC_000017.10:g.(?_59878633)_(59883057_?)del
|
|
|
NC_000017.10:g.(?_59878633)_59883038del
|
|
|
NC_000017.10:g.(?_59924456)_(59926623_?)dup
|
|
|
NC_000017.10:g.(?_59924462)_(59926617_?)dup
|
|
|
NC_000017.11:g.(?_58703186)_(58703339_?)dup
|
|
|
NC_000017.11:g.(?_58709849)_(58710000_?)del
|
|
|
NC_000017.11:g.(?_58709853)_(58709996_?)del
|
|
|
NC_000017.11:g.(?_58720736)_(58720822_?)dup
|
|
|
NC_000017.11:g.(?_58734108)_(58734232_?)del
|
|
|
NC_000017.11:g.(?_58734112)_(58734228_?)del
|
|
|
NC_000017.11:g.(?_61808457)_(61808767_?)del
|
|
|
NC_000017.11:g.(?_61847091)_(61847230_?)del
|
|
|
NC_000017.11:g.(?_61861441)_(61861545_?)del
|
|
|
NC_000023.11:g.(?_14857852)_(14859344_?)del
|
|
|
NC_012920.1:m.8570T>C
|
rs2068710214
|
|
NM_000032.5(ALAS2):c.-15-2188A>G
|
|
|
NM_000032.5(ALAS2):c.1382T>A (p.Leu461His)
|
rs1935671225
|
|
NM_000032.5(ALAS2):c.1571A>G (p.His524Arg)
|
rs2146715075
|
|
NM_000037.4(ANK1):c.1124del (p.Leu375fs)
|
|
|
NM_000037.4(ANK1):c.1135del (p.Cys379fs)
|
rs2150641017
|
|
NM_000037.4(ANK1):c.1282dup (p.Ala428fs)
|
|
|
NM_000037.4(ANK1):c.1376del (p.Asn459fs)
|
|
|
NM_000037.4(ANK1):c.1381_1382del (p.Ala461fs)
|
|
|
NM_000037.4(ANK1):c.1405-9G>A
|
|
|
NM_000037.4(ANK1):c.1452del (p.Asn484fs)
|
rs2150635459
|
|
NM_000037.4(ANK1):c.1488dup (p.Asn497fs)
|
|
|
NM_000037.4(ANK1):c.1537G>T (p.Glu513Ter)
|
|
|
NM_000037.4(ANK1):c.1585C>T (p.Gln529Ter)
|
|
|
NM_000037.4(ANK1):c.1638C>A (p.Tyr546Ter)
|
|
|
NM_000037.4(ANK1):c.1675del (p.Asp559fs)
|
|
|
NM_000037.4(ANK1):c.1702-2A>G
|
rs1554567249
|
|
NM_000037.4(ANK1):c.1709del (p.Leu570fs)
|
|
|
NM_000037.4(ANK1):c.1779_1800+1dup
|
|
|
NM_000037.4(ANK1):c.1781_1794del (p.Ser594fs)
|
rs2150631832
|
|
NM_000037.4(ANK1):c.1784dup (p.His596fs)
|
|
|
NM_000037.4(ANK1):c.1801-17G>A
|
rs786205243
|
|
NM_000037.4(ANK1):c.181del (p.Val61fs)
|
|
|
NM_000037.4(ANK1):c.1895C>A (p.Ser632Ter)
|
rs749423708
|
|
NM_000037.4(ANK1):c.1900C>T (p.Gln634Ter)
|
|
|
NM_000037.4(ANK1):c.1930C>T (p.Gln644Ter)
|
|
|
NM_000037.4(ANK1):c.1933G>T (p.Glu645Ter)
|
|
|
NM_000037.4(ANK1):c.1972C>T (p.Gln658Ter)
|
|
|
NM_000037.4(ANK1):c.1A>G (p.Met1Val)
|
rs1554627073
|
|
NM_000037.4(ANK1):c.2004del (p.Leu669fs)
|
rs2150616506
|
|
NM_000037.4(ANK1):c.2023dup (p.Val675fs)
|
|
|
NM_000037.4(ANK1):c.2104dup (p.Tyr702fs)
|
rs2150612966
|
|
NM_000037.4(ANK1):c.2148_2157del (p.Val717fs)
|
|
|
NM_000037.4(ANK1):c.2283del (p.Asn761fs)
|
|
|
NM_000037.4(ANK1):c.2296-1G>A
|
|
|
NM_000037.4(ANK1):c.2296-2A>C
|
|
|
NM_000037.4(ANK1):c.2320_2350del (p.Ala774fs)
|
|
|
NM_000037.4(ANK1):c.2389-2A>G
|
|
|
NM_000037.4(ANK1):c.2394_2397del (p.Ser799fs)
|
rs2150605978
|
|
NM_000037.4(ANK1):c.2485del (p.Ala829fs)
|
|
|
NM_000037.4(ANK1):c.2558+2T>C
|
rs2150602525
|
|
NM_000037.4(ANK1):c.2581dup (p.Arg861fs)
|
|
|
NM_000037.4(ANK1):c.2632G>T (p.Glu878Ter)
|
|
|
NM_000037.4(ANK1):c.2681del (p.Pro894fs)
|
|
|
NM_000037.4(ANK1):c.2764del (p.Arg922fs)
|
|
|
NM_000037.4(ANK1):c.2768del (p.Gly923fs)
|
rs2150597126
|
|
NM_000037.4(ANK1):c.2823del (p.Thr942fs)
|
|
|
NM_000037.4(ANK1):c.2960+1G>A
|
rs2150596703
|
|
NM_000037.4(ANK1):c.2961-2A>G
|
rs2150594692
|
|
NM_000037.4(ANK1):c.3050G>A (p.Trp1017Ter)
|
|
|
NM_000037.4(ANK1):c.3050G>C (p.Trp1017Ser)
|
|
|
NM_000037.4(ANK1):c.3059_3066del (p.His1020fs)
|
rs2150594434
|
|
NM_000037.4(ANK1):c.3123del (p.Ser1042fs)
|
|
|
NM_000037.4(ANK1):c.3123dup (p.Ser1042fs)
|
|
|
NM_000037.4(ANK1):c.3150_3151insAAGG (p.Val1051fs)
|
|
|
NM_000037.4(ANK1):c.3151del (p.Val1051fs)
|
|
|
NM_000037.4(ANK1):c.3196_3199dup (p.Ser1067fs)
|
|
|
NM_000037.4(ANK1):c.3269del (p.Leu1090fs)
|
rs2150593284
|
|
NM_000037.4(ANK1):c.3325C>T (p.Gln1109Ter)
|
rs2150593157
|
|
NM_000037.4(ANK1):c.341C>T (p.Pro114Leu)
|
|
|
NM_000037.4(ANK1):c.3493_3496dup (p.Asp1166fs)
|
|
|
NM_000037.4(ANK1):c.3533-2A>G
|
|
|
NM_000037.4(ANK1):c.3550C>T (p.Gln1184Ter)
|
|
|
NM_000037.4(ANK1):c.3563_3564del (p.Ile1188fs)
|
|
|
NM_000037.4(ANK1):c.3623_3624del (p.Ser1208fs)
|
rs1586144223
|
|
NM_000037.4(ANK1):c.3630-1G>A
|
|
|
NM_000037.4(ANK1):c.3775del (p.Tyr1259fs)
|
rs2150589601
|
|
NM_000037.4(ANK1):c.3777C>G (p.Tyr1259Ter)
|
|
|
NM_000037.4(ANK1):c.3841del (p.Arg1281fs)
|
|
|
NM_000037.4(ANK1):c.3859-2A>G
|
|
|
NM_000037.4(ANK1):c.3893_3894del (p.Ser1298fs)
|
|
|
NM_000037.4(ANK1):c.3928C>T (p.Gln1310Ter)
|
rs2150586181
|
|
NM_000037.4(ANK1):c.3954del (p.Arg1319fs)
|
|
|
NM_000037.4(ANK1):c.3974_3981dup (p.Lys1328delinsCysLeuTer)
|
|
|
NM_000037.4(ANK1):c.4051del (p.Asp1351fs)
|
rs1586114714
|
|
NM_000037.4(ANK1):c.4092_4101del (p.Pro1365fs)
|
|
|
NM_000037.4(ANK1):c.409C>T (p.Gln137Ter)
|
rs2150661792
|
|
NM_000037.4(ANK1):c.4184-2A>G
|
|
|
NM_000037.4(ANK1):c.4259-1G>T
|
|
|
NM_000037.4(ANK1):c.4267del (p.Arg1423fs)
|
|
|
NM_000037.4(ANK1):c.427-2A>G
|
|
|
NM_000037.4(ANK1):c.4390+1G>A
|
rs2150580336
|
|
NM_000037.4(ANK1):c.4391-1G>C
|
|
|
NM_000037.4(ANK1):c.441_466del (p.Pro147_Leu148insTer)
|
|
|
NM_000037.4(ANK1):c.4465C>T (p.Gln1489Ter)
|
rs1187228917
|
|
NM_000037.4(ANK1):c.4492_4493del (p.Arg1498fs)
|
|
|
NM_000037.4(ANK1):c.4529del (p.Gln1510fs)
|
|
|
NM_000037.4(ANK1):c.4599_4600del (p.Pro1534fs)
|
|
|
NM_000037.4(ANK1):c.4771G>T (p.Glu1591Ter)
|
|
|
NM_000037.4(ANK1):c.4779_4780del (p.Asp1594fs)
|
|
|
NM_000037.4(ANK1):c.47_50del (p.Ser15_Phe16insTer)
|
|
|
NM_000037.4(ANK1):c.4813del (p.Ala1605fs)
|
rs2150563125
|
|
NM_000037.4(ANK1):c.4835_4847del (p.Gly1612fs)
|
|
|
NM_000037.4(ANK1):c.4835del (p.Gly1612fs)
|
rs2150563078
|
|
NM_000037.4(ANK1):c.4855G>T (p.Glu1619Ter)
|
rs774067157
|
|
NM_000037.4(ANK1):c.4886del (p.Asp1629fs)
|
|
|
NM_000037.4(ANK1):c.500dup (p.Thr168fs)
|
|
|
NM_000037.4(ANK1):c.5026del (p.His1676fs)
|
|
|
NM_000037.4(ANK1):c.5076dup (p.Thr1693fs)
|
|
|
NM_000037.4(ANK1):c.5096+1G>A
|
|
|
NM_000037.4(ANK1):c.5096+2T>G
|
|
|
NM_000037.4(ANK1):c.5108G>A (p.Trp1703Ter)
|
rs2150556792
|
|
NM_000037.4(ANK1):c.511_541del (p.Lys171fs)
|
|
|
NM_000037.4(ANK1):c.5164del (p.Gln1722fs)
|
|
|
NM_000037.4(ANK1):c.5323_5324del (p.Arg1775fs)
|
|
|
NM_000037.4(ANK1):c.5374_5375del (p.Thr1792fs)
|
|
|
NM_000037.4(ANK1):c.547_559del (p.Asn183fs)
|
|
|
NM_000037.4(ANK1):c.5500C>T (p.Gln1834Ter)
|
|
|
NM_000037.4(ANK1):c.557del (p.Thr186fs)
|
|
|
NM_000037.4(ANK1):c.612+1G>C
|
|
|
NM_000037.4(ANK1):c.613-1G>A
|
|
|
NM_000037.4(ANK1):c.6dup (p.Tyr3fs)
|
|
|
NM_000037.4(ANK1):c.712-2A>T
|
rs2150653010
|
|
NM_000037.4(ANK1):c.725del (p.Pro242fs)
|
rs2150652933
|
|
NM_000037.4(ANK1):c.810+1G>A
|
|
|
NM_000037.4(ANK1):c.86del (p.Leu29fs)
|
|
|
NM_000037.4(ANK1):c.910-2A>G
|
|
|
NM_000037.4(ANK1):c.970del (p.Leu324fs)
|
|
|
NM_000059.4(BRCA2):c.-40+2T>C
|
rs1593879845
|
|
NM_000059.4(BRCA2):c.15del (p.Glu7fs)
|
rs1064795072
|
|
NM_000059.4(BRCA2):c.1889del (p.Thr630fs)
|
rs80359315
|
|
NM_000059.4(BRCA2):c.316G>A (p.Gly106Arg)
|
rs786201916
|
|
NM_000059.4(BRCA2):c.4733T>G (p.Leu1578Ter)
|
rs2137509604
|
|
NM_000059.4(BRCA2):c.574_575del (p.Met192fs)
|
rs80359533
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.8452G>T (p.Val2818Phe)
|
rs80359094
|
|
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)
|
rs80359161
|
|
NM_000096.4(CP):c.1679G>T (p.Cys560Phe)
|
rs1064797073
|
|
NM_000096.4(CP):c.2078-75_2241del
|
|
|
NM_000096.4(CP):c.2756T>C (p.Leu919Pro)
|
rs1135401784
|
|
NM_000096.4(CP):c.2879-1G>T
|
rs386134141
|
|
NM_000096.4(CP):c.848G>C (p.Trp283Ser)
|
rs386134126
|
|
NM_000116.5(TAFAZZIN):c.532T>A (p.Phe178Ile)
|
|
|
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)
|
rs121917734
|
|
NM_000135.2(FANCA):c.1_2151+1del
|
|
|
NM_000135.2:c.523_2601del
|
|
|
NM_000135.2:c.894_2641del
|
|
|
NM_000135.4(FANCA):c.1006+1G>A
|
|
|
NM_000135.4(FANCA):c.1006+1G>T
|
rs1555564436
|
|
NM_000135.4(FANCA):c.1007-2A>G
|
rs2040110878
|
|
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)
|
rs769580546
|
|
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)
|
|
|
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)
|
|
|
NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter)
|
rs773687142
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
NM_000135.4(FANCA):c.1083+1G>A
|
|
|
NM_000135.4(FANCA):c.1084-1G>T
|
|
|
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)
|
rs752864343
|
|
NM_000135.4(FANCA):c.1162A>T (p.Arg388Ter)
|
rs2040091746
|
|
NM_000135.4(FANCA):c.1165G>T (p.Val389Leu)
|
|
|
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)
|
rs1484087361
|
|
NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)
|
|
|
NM_000135.4(FANCA):c.1225+2T>A
|
|
|
NM_000135.4(FANCA):c.1225+2T>G
|
|
|
NM_000135.4(FANCA):c.1226-2A>C
|
|
|
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)
|
|
|
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)
|
|
|
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)
|
rs774026652
|
|
NM_000135.4(FANCA):c.1273dup (p.Asp425fs)
|
|
|
NM_000135.4(FANCA):c.1287del (p.Ala430fs)
|
|
|
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)
|
rs1158456786
|
|
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)
|
rs1416639878
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1304G>C (p.Arg435Pro)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)
|
rs1060501879
|
|
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)
|
rs2040074214
|
|
NM_000135.4(FANCA):c.1308G>C (p.Gln436His)
|
rs1316078638
|
|
NM_000135.4(FANCA):c.1326del (p.Ser443fs)
|
|
|
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His)
|
rs1567635573
|
|
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
|
|
|
NM_000135.4(FANCA):c.1360-2A>G
|
|
|
NM_000135.4(FANCA):c.1367T>C (p.Phe456Ser)
|
|
|
NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter)
|
rs2039845162
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)
|
rs1266348463
|
|
NM_000135.4(FANCA):c.1470+1G>A
|
rs1555556175
|
|
NM_000135.4(FANCA):c.1470+2T>C
|
rs2039844134
|
|
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)
|
rs925457555
|
|
NM_000135.4(FANCA):c.1476_1477del (p.Ile493fs)
|
rs1555554788
|
|
NM_000135.4(FANCA):c.1509C>G (p.Tyr503Ter)
|
rs1598136954
|
|
NM_000135.4(FANCA):c.155_161del (p.Arg52fs)
|
|
|
NM_000135.4(FANCA):c.1566+1G>T
|
|
|
NM_000135.4(FANCA):c.1566+2C>G
|
|
|
NM_000135.4(FANCA):c.1567-1G>C
|
rs1464032361
|
|
NM_000135.4(FANCA):c.1567-20A>G
|
rs775154397
|
|
NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter)
|
rs2039768709
|
|
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)
|
rs769047348
|
|
NM_000135.4(FANCA):c.1627-2A>G
|
rs2143433058
|
|
NM_000135.4(FANCA):c.1630del (p.His544fs)
|
|
|
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)
|
rs1555580427
|
|
NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter)
|
|
|
NM_000135.4(FANCA):c.1683_1689del (p.Gly562fs)
|
rs2039643136
|
|
NM_000135.4(FANCA):c.16dup (p.Val6fs)
|
|
|
NM_000135.4(FANCA):c.1715+1G>A
|
|
|
NM_000135.4(FANCA):c.1715+1G>T
|
rs1555552506
|
|
NM_000135.4(FANCA):c.1715+3_1715+13del
|
rs2143432038
|
|
NM_000135.4(FANCA):c.1716-2A>G
|
|
|
NM_000135.4(FANCA):c.1776+7A>G
|
rs1555552070
|
|
NM_000135.4(FANCA):c.1777-2A>G
|
rs2143422990
|
|
NM_000135.4(FANCA):c.1777-3_1783del
|
rs2039605605
|
|
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs)
|
rs1555552006
|
|
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)
|
rs1343140664
|
|
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)
|
|
|
NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter)
|
rs938278864
|
|
NM_000135.4(FANCA):c.1826+2T>A
|
rs2039603867
|
|
NM_000135.4(FANCA):c.1826+2T>C
|
|
|
NM_000135.4(FANCA):c.1827-2A>G
|
rs2143393518
|
|
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)
|
rs2041095238
|
|
NM_000135.4(FANCA):c.1844dup (p.Ser616fs)
|
rs779375100
|
|
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)
|
rs2143393148
|
|
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)
|
|
|
NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter)
|
|
|
NM_000135.4(FANCA):c.189+1G>A
|
rs891323617
|
|
NM_000135.4(FANCA):c.189+2T>A
|
rs2041094594
|
|
NM_000135.4(FANCA):c.190-1G>T
|
rs765277254
|
|
NM_000135.4(FANCA):c.190-2_203del
|
rs2143711687
|
|
NM_000135.4(FANCA):c.1900+1G>T
|
rs1598120768
|
|
NM_000135.4(FANCA):c.1901-1G>A
|
rs1485075318
|
|
NM_000135.4(FANCA):c.1901-2A>G
|
rs1555549535
|
|
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)
|
rs2143367693
|
|
NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter)
|
rs140785340
|
|
NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter)
|
|
|
NM_000135.4(FANCA):c.1A>C (p.Met1Leu)
|
rs772751654
|
|
NM_000135.4(FANCA):c.1A>G (p.Met1Val)
|
rs772751654
|
|
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)
|
rs772751654
|
|
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)
|
rs2143366568
|
|
NM_000135.4(FANCA):c.2014+1G>A
|
|
|
NM_000135.4(FANCA):c.2014+1G>C
|
rs1598116164
|
|
NM_000135.4(FANCA):c.2015-1G>A
|
rs1555548632
|
|
NM_000135.4(FANCA):c.2015-1G>T
|
rs1555548632
|
|
NM_000135.4(FANCA):c.2015-2A>C
|
rs2143351760
|
|
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)
|
rs17232973
|
|
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs)
|
rs754104046
|
|
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)
|
rs1555548512
|
|
NM_000135.4(FANCA):c.2151+1dup
|
rs777971510
|
|
NM_000135.4(FANCA):c.2151+2T>C
|
rs937874201
|
|
NM_000135.4(FANCA):c.2152-1G>A
|
|
|
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)
|
rs1567618907
|
|
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)
|
rs1555547935
|
|
NM_000135.4(FANCA):c.2222+1G>C
|
rs775388912
|
|
NM_000135.4(FANCA):c.2222+1G>T
|
rs775388912
|
|
NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter)
|
rs1338018512
|
|
NM_000135.4(FANCA):c.2247del (p.Phe749fs)
|
|
|
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)
|
|
|
NM_000135.4(FANCA):c.2316+1_2316+3del
|
rs2039275264
|
|
NM_000135.4(FANCA):c.2317-1G>A
|
rs1230207719
|
|
NM_000135.4(FANCA):c.2317-1G>T
|
rs1230207719
|
|
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)
|
rs1555547474
|
|
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)
|
rs1363946483
|
|
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)
|
|
|
NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter)
|
rs2039261844
|
|
NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter)
|
rs772477788
|
|
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)
|
rs2039260856
|
|
NM_000135.4(FANCA):c.2504+1G>C
|
rs2039260545
|
|
NM_000135.4(FANCA):c.2505-1G>C
|
rs1438990537
|
|
NM_000135.4(FANCA):c.2505-2A>C
|
|
|
NM_000135.4(FANCA):c.2524del (p.Ser842fs)
|
rs1205909298
|
|
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)
|
rs1247378731
|
|
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)
|
rs1452688134
|
|
NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs)
|
|
|
NM_000135.4(FANCA):c.2602-13CT[2]
|
rs577636020
|
|
NM_000135.4(FANCA):c.2602-2A>C
|
rs1555545592
|
|
NM_000135.4(FANCA):c.2604_2609del
|
|
|
NM_000135.4(FANCA):c.2605C>G (p.Gln869Glu)
|
|
|
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)
|
|
|
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer)
|
rs1555545553
|
|
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)
|
rs1017086086
|
|
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs)
|
|
|
NM_000135.4(FANCA):c.2650del (p.Ser884fs)
|
|
|
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
|
|
|
NM_000135.4(FANCA):c.2667del (p.Ser890fs)
|
rs1555545517
|
|
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)
|
rs1216426444
|
|
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)
|
rs1183559927
|
|
NM_000135.4(FANCA):c.2762A>T (p.Lys921Ile)
|
rs879255255
|
|
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)
|
rs1555545421
|
|
NM_000135.4(FANCA):c.2778+2T>C
|
rs1458001028
|
|
NM_000135.4(FANCA):c.2778+83C>G
|
rs750997715
|
|
NM_000135.4(FANCA):c.2779-1G>T
|
rs2143261385
|
|
NM_000135.4(FANCA):c.283+1G>A
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1G>T
|
rs1232171121
|
|
NM_000135.4(FANCA):c.283+1_283+11del
|
rs2143710613
|
|
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)
|
rs756367276
|
|
NM_000135.4(FANCA):c.284-1G>C
|
rs781216924
|
|
NM_000135.4(FANCA):c.284-2A>C
|
|
|
NM_000135.4(FANCA):c.284-940_339del
|
|
|
NM_000135.4(FANCA):c.2848G>T (p.Glu950Ter)
|
rs2038967261
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000135.4(FANCA):c.2852+1dup
|
|
|
NM_000135.4(FANCA):c.2852+2T>G
|
rs766875860
|
|
NM_000135.4(FANCA):c.2853-15_2856del
|
rs1285346388
|
|
NM_000135.4(FANCA):c.2910del (p.Gly972fs)
|
rs1278836130
|
|
NM_000135.4(FANCA):c.2915del (p.Gly972fs)
|
|
|
NM_000135.4(FANCA):c.2981+1G>A
|
rs1555542860
|
|
NM_000135.4(FANCA):c.2982-1G>C
|
rs1555540076
|
|
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)
|
|
|
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs)
|
rs1555540048
|
|
NM_000135.4(FANCA):c.2993dup (p.Tyr998Ter)
|
|
|
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)
|
|
|
NM_000135.4(FANCA):c.2T>A (p.Met1Lys)
|
rs769479800
|
|
NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter)
|
rs2038618125
|
|
NM_000135.4(FANCA):c.301C>T (p.Gln101Ter)
|
|
|
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)
|
|
|
NM_000135.4(FANCA):c.3066+1G>A
|
rs587783028
|
|
NM_000135.4(FANCA):c.3066+1G>C
|
|
|
NM_000135.4(FANCA):c.3066+1G>T
|
rs587783028
|
|
NM_000135.4(FANCA):c.3067-2A>G
|
rs2143140176
|
|
NM_000135.4(FANCA):c.306del (p.Ser103fs)
|
|
|
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val)
|
rs1567603987
|
|
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter)
|
rs147176389
|
|
NM_000135.4(FANCA):c.3091del (p.Gln1031fs)
|
rs2143139861
|
|
NM_000135.4(FANCA):c.3096del (p.Asp1033fs)
|
|
|
NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter)
|
rs2038519770
|
|
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)
|
rs1405317971
|
|
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)
|
rs2143139166
|
|
NM_000135.4(FANCA):c.3163C>G (p.Arg1055Gly)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)
|
rs753063086
|
|
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)
|
rs1429943036
|
|
NM_000135.4(FANCA):c.3184_3186delinsTGCC (p.Gly1062fs)
|
rs2143138507
|
|
NM_000135.4(FANCA):c.3208del (p.Gln1070fs)
|
|
|
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)
|
rs1555538571
|
|
NM_000135.4(FANCA):c.3240-1G>A
|
rs2038478071
|
|
NM_000135.4(FANCA):c.3240-2A>G
|
rs2038478110
|
|
NM_000135.4(FANCA):c.32del (p.Ser11fs)
|
|
|
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)
|
|
|
NM_000135.4(FANCA):c.337_338del (p.Ala114fs)
|
rs2143680554
|
|
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter)
|
rs1439817346
|
|
NM_000135.4(FANCA):c.3392C>A (p.Thr1131Asn)
|
|
|
NM_000135.4(FANCA):c.3392C>T (p.Thr1131Ile)
|
rs2143109078
|
|
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)
|
|
|
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)
|
rs786204246
|
|
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs)
|
rs1555537347
|
|
NM_000135.4(FANCA):c.3408+1G>C
|
rs1567601557
|
|
NM_000135.4(FANCA):c.3409-25_3418del
|
|
|
NM_000135.4(FANCA):c.3409-2A>G
|
|
|
NM_000135.4(FANCA):c.3409-3_3417del
|
|
|
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)
|
|
|
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)
|
rs545772434
|
|
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu)
|
rs2038399117
|
|
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)
|
rs2038398856
|
|
NM_000135.4(FANCA):c.3504_3513+55del
|
|
|
NM_000135.4(FANCA):c.3513+1G>C
|
|
|
NM_000135.4(FANCA):c.3514-1G>C
|
|
|
NM_000135.4(FANCA):c.3514-1G>T
|
rs2143088468
|
|
NM_000135.4(FANCA):c.3563dup (p.His1188fs)
|
|
|
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)
|
rs1555536390
|
|
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)
|
rs1390620949
|
|
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)
|
rs1381684916
|
|
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)
|
rs1380850249
|
|
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs)
|
rs1555536361
|
|
NM_000135.4(FANCA):c.3626+1G>C
|
rs34885858
|
|
NM_000135.4(FANCA):c.3626+1G>T
|
rs34885858
|
|
NM_000135.4(FANCA):c.3626+2T>G
|
|
|
NM_000135.4(FANCA):c.3627-3_3627-2del
|
rs2062172458
|
|
NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter)
|
rs2062172011
|
|
NM_000135.4(FANCA):c.364G>T (p.Gly122Ter)
|
rs2040857662
|
|
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)
|
rs1555535527
|
|
NM_000135.4(FANCA):c.3745del (p.Leu1249fs)
|
rs1555535472
|
|
NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter)
|
rs752126515
|
|
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)
|
rs868273545
|
|
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)
|
|
|
NM_000135.4(FANCA):c.3765+1G>A
|
|
|
NM_000135.4(FANCA):c.3765+2C>T
|
rs776827467
|
|
NM_000135.4(FANCA):c.3766-1G>A
|
|
|
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)
|
rs1183256870
|
|
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)
|
rs587778319
|
|
NM_000135.4(FANCA):c.3828+1G>A
|
rs1432988639
|
|
NM_000135.4(FANCA):c.3828+1del
|
|
|
NM_000135.4(FANCA):c.3829-71_3868del
|
|
|
NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)
|
|
|
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)
|
rs986710868
|
|
NM_000135.4(FANCA):c.3890dup (p.Arg1298fs)
|
rs1555534060
|
|
NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs)
|
|
|
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)
|
rs2151714613
|
|
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)
|
|
|
NM_000135.4(FANCA):c.3934+1G>A
|
rs2062087795
|
|
NM_000135.4(FANCA):c.3934+2T>C
|
rs771775516
|
|
NM_000135.4(FANCA):c.3935-1G>A
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3935-1G>T
|
rs1555533693
|
|
NM_000135.4(FANCA):c.3937del (p.Leu1313fs)
|
|
|
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)
|
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
NM_000135.4(FANCA):c.4010+1G>A
|
rs2062067810
|
|
NM_000135.4(FANCA):c.4010+1_4010+18del
|
rs752457319
|
|
NM_000135.4(FANCA):c.4010+2T>C
|
rs2062067746
|
|
NM_000135.4(FANCA):c.4011-1G>A
|
rs761988162
|
|
NM_000135.4(FANCA):c.401dup (p.Val135fs)
|
rs1555575253
|
|
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs)
|
rs1567593047
|
|
NM_000135.4(FANCA):c.4100_4167+2del
|
|
|
NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)
|
|
|
NM_000135.4(FANCA):c.4167+1G>A
|
|
|
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)
|
rs149851163
|
|
NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs)
|
|
|
NM_000135.4(FANCA):c.423_426+14del
|
rs2143678941
|
|
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)
|
rs940187828
|
|
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)
|
rs2040853392
|
|
NM_000135.4(FANCA):c.4254_4255delinsC (p.Ala1419fs)
|
|
|
NM_000135.4(FANCA):c.4257dup (p.Glu1420fs)
|
rs1555532946
|
|
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter)
|
rs984285795
|
|
NM_000135.4(FANCA):c.426+1G>A
|
rs1343463467
|
|
NM_000135.4(FANCA):c.426+2T>A
|
rs1598190568
|
|
NM_000135.4(FANCA):c.426+2T>C
|
|
|
NM_000135.4(FANCA):c.426+2T>G
|
rs1598190568
|
|
NM_000135.4(FANCA):c.4260+1G>A
|
rs1060501887
|
|
NM_000135.4(FANCA):c.4260+1dup
|
rs1555532944
|
|
NM_000135.4(FANCA):c.4260+2T>A
|
rs1555532943
|
|
NM_000135.4(FANCA):c.4261-2A>C
|
rs915983602
|
|
NM_000135.4(FANCA):c.4261-2A>G
|
rs915983602
|
|
NM_000135.4(FANCA):c.427-2A>G
|
rs765684774
|
|
NM_000135.4(FANCA):c.427-3C>G
|
rs2040847223
|
|
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)
|
rs1598048941
|
|
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)
|
rs748856769
|
|
NM_000135.4(FANCA):c.4285G>C (p.Asp1429His)
|
rs748856769
|
|
NM_000135.4(FANCA):c.4285G>T (p.Asp1429Tyr)
|
|
|
NM_000135.4(FANCA):c.4285_4288dup (p.Pro1430fs)
|
rs2049528619
|
|
NM_000135.4(FANCA):c.449_450del (p.Glu150fs)
|
|
|
NM_000135.4(FANCA):c.467T>A (p.Leu156Ter)
|
rs1419169954
|
|
NM_000135.4(FANCA):c.513dup (p.Lys172fs)
|
rs1555574913
|
|
NM_000135.4(FANCA):c.520C>T (p.Gln174Ter)
|
rs1454055874
|
|
NM_000135.4(FANCA):c.522+2T>C
|
rs2143677013
|
|
NM_000135.4(FANCA):c.522+2T>G
|
|
|
NM_000135.4(FANCA):c.523-1G>T
|
rs1477653630
|
|
NM_000135.4(FANCA):c.523-2A>G
|
rs746518509
|
|
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)
|
|
|
NM_000135.4(FANCA):c.596+1G>A
|
|
|
NM_000135.4(FANCA):c.596+1G>C
|
rs2143656696
|
|
NM_000135.4(FANCA):c.596+2T>C
|
rs1555573118
|
|
NM_000135.4(FANCA):c.658C>T (p.Gln220Ter)
|
rs775697743
|
|
NM_000135.4(FANCA):c.709+2T>C
|
rs1555571116
|
|
NM_000135.4(FANCA):c.709+5G>T
|
rs759877008
|
|
NM_000135.4(FANCA):c.710-10G>A
|
rs2040524006
|
|
NM_000135.4(FANCA):c.710-1G>A
|
|
|
NM_000135.4(FANCA):c.710-1G>C
|
rs1388128874
|
|
NM_000135.4(FANCA):c.710-1G>T
|
|
|
NM_000135.4(FANCA):c.714dup (p.Val239fs)
|
|
|
NM_000135.4(FANCA):c.79+1G>C
|
rs1483028018
|
|
NM_000135.4(FANCA):c.793-2A>G
|
|
|
NM_000135.4(FANCA):c.793-2A>T
|
|
|
NM_000135.4(FANCA):c.80-1G>T
|
rs751076878
|
|
NM_000135.4(FANCA):c.80-2A>G
|
|
|
NM_000135.4(FANCA):c.80-99_105del
|
|
|
NM_000135.4(FANCA):c.826+2T>C
|
rs2143585058
|
|
NM_000135.4(FANCA):c.826+5_826+9del
|
rs797045570
|
|
NM_000135.4(FANCA):c.827-1G>A
|
|
|
NM_000135.4(FANCA):c.827-1G>C
|
rs753728435
|
|
NM_000135.4(FANCA):c.827-1G>T
|
rs753728435
|
|
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)
|
rs2041102320
|
|
NM_000135.4(FANCA):c.83del (p.Gly28fs)
|
|
|
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)
|
rs1348367722
|
|
NM_000135.4(FANCA):c.893+1G>C
|
|
|
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)
|
rs764122657
|
|
NM_000135.4(FANCA):c.94del (p.Arg32fs)
|
|
|
NM_000135.4(FANCA):c.971T>C (p.Leu324Pro)
|
|
|
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)
|
rs1447363475
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
NM_000135.4(FANCA):c.989_995del (p.His330fs)
|
rs1555564451
|
|
NM_000135.4:c.1901_3240del
|
|
|
NM_000135.4:c.710_894del
|
|
|
NM_000136.3(FANCC):c.1029C>A (p.Tyr343Ter)
|
rs2072504418
|
|
NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter)
|
|
|
NM_000136.3(FANCC):c.1037dup (p.Ser347fs)
|
rs1057516248
|
|
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)
|
rs759900071
|
|
NM_000136.3(FANCC):c.1072+1G>A
|
rs1554830789
|
|
NM_000136.3(FANCC):c.1072+2T>A
|
|
|
NM_000136.3(FANCC):c.1073-1G>C
|
rs1554830249
|
|
NM_000136.3(FANCC):c.1084G>T (p.Gly362Ter)
|
rs2072245226
|
|
NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)
|
|
|
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)
|
rs1057516919
|
|
NM_000136.3(FANCC):c.1144del (p.Gln382fs)
|
rs1057516313
|
|
NM_000136.3(FANCC):c.1151_1152del (p.His384fs)
|
rs1554830220
|
|
NM_000136.3(FANCC):c.1155-1G>A
|
rs1554829575
|
|
NM_000136.3(FANCC):c.1155-1G>C
|
rs1554829575
|
|
NM_000136.3(FANCC):c.1155-2A>G
|
rs1343170313
|
|
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs)
|
rs1554829561
|
|
NM_000136.3(FANCC):c.117del (p.Gln40fs)
|
rs1057517147
|
|
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter)
|
rs1554829555
|
|
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)
|
|
|
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)
|
rs2071939263
|
|
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter)
|
rs200719554
|
|
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)
|
|
|
NM_000136.3(FANCC):c.125dup (p.Glu43fs)
|
|
|
NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)
|
|
|
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)
|
rs766105286
|
|
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs)
|
rs1588353886
|
|
NM_000136.3(FANCC):c.1308del (p.Arg436fs)
|
|
|
NM_000136.3(FANCC):c.1329+1del
|
|
|
NM_000136.3(FANCC):c.1330-2A>C
|
rs2134456820
|
|
NM_000136.3(FANCC):c.1330-2A>G
|
|
|
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)
|
rs1057516298
|
|
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)
|
rs730881710
|
|
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs)
|
rs1564641485
|
|
NM_000136.3(FANCC):c.1453del (p.Gln485fs)
|
|
|
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter)
|
rs1057516963
|
|
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)
|
rs1057516488
|
|
NM_000136.3(FANCC):c.1533+1G>T
|
rs753885687
|
|
NM_000136.3(FANCC):c.1533+2T>C
|
rs1057517170
|
|
NM_000136.3(FANCC):c.1534-1G>T
|
rs1364238660
|
|
NM_000136.3(FANCC):c.1534-2A>G
|
rs1554827166
|
|
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs)
|
rs1554827159
|
|
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)
|
rs794726667
|
|
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs)
|
rs1554827136
|
|
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter)
|
rs1057516455
|
|
NM_000136.3(FANCC):c.163del (p.Met55fs)
|
|
|
NM_000136.3(FANCC):c.165+1del
|
rs1554858249
|
|
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)
|
rs370974124
|
|
NM_000136.3(FANCC):c.169del (p.Ser57fs)
|
|
|
NM_000136.3(FANCC):c.220del (p.Ala74fs)
|
rs1588350264
|
|
NM_000136.3(FANCC):c.225T>A (p.Cys75Ter)
|
|
|
NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter)
|
|
|
NM_000136.3(FANCC):c.250+1G>A
|
rs2136090597
|
|
NM_000136.3(FANCC):c.251-2A>C
|
rs1057517219
|
|
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer)
|
rs777918411
|
|
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter)
|
rs1830584796
|
|
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)
|
|
|
NM_000136.3(FANCC):c.282_283del (p.Cys95fs)
|
|
|
NM_000136.3(FANCC):c.284_293del (p.Cys95fs)
|
rs2136049324
|
|
NM_000136.3(FANCC):c.29dup (p.Cys10fs)
|
rs878853671
|
|
NM_000136.3(FANCC):c.2T>C (p.Met1Thr)
|
rs2136102345
|
|
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter)
|
rs1057516384
|
|
NM_000136.3(FANCC):c.315_316insCCCG (p.Gly106fs)
|
|
|
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)
|
rs730881731
|
|
NM_000136.3(FANCC):c.323C>A (p.Ser108Ter)
|
rs1830581816
|
|
NM_000136.3(FANCC):c.345+1del
|
rs1057516247
|
|
NM_000136.3(FANCC):c.346-1G>A
|
rs1484503633
|
|
NM_000136.3(FANCC):c.346-1G>C
|
|
|
NM_000136.3(FANCC):c.346-1G>T
|
rs1484503633
|
|
NM_000136.3(FANCC):c.353T>A (p.Leu118Ter)
|
rs1825725461
|
|
NM_000136.3(FANCC):c.356_360del (p.Ser119fs)
|
rs1060499606
|
|
NM_000136.3(FANCC):c.362_363del (p.Ile121fs)
|
rs1588220728
|
|
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)
|
rs1564720637
|
|
NM_000136.3(FANCC):c.387_390del (p.Glu130fs)
|
|
|
NM_000136.3(FANCC):c.3G>T (p.Met1Ile)
|
rs1368374192
|
|
NM_000136.3(FANCC):c.406C>T (p.Gln136Ter)
|
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
NM_000136.3(FANCC):c.456+1G>A
|
rs2135587402
|
|
NM_000136.3(FANCC):c.457-1G>T
|
rs1057516917
|
|
NM_000136.3(FANCC):c.457-2A>G
|
|
|
NM_000136.3(FANCC):c.460del (p.Val154fs)
|
rs1825653076
|
|
NM_000136.3(FANCC):c.464T>A (p.Leu155Ter)
|
rs1825652774
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.494_495del (p.His165fs)
|
rs1564719151
|
|
NM_000136.3(FANCC):c.507del (p.Phe169fs)
|
rs1588218493
|
|
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
|
|
|
NM_000136.3(FANCC):c.547del (p.Leu183fs)
|
|
|
NM_000136.3(FANCC):c.560del (p.Cys187fs)
|
|
|
NM_000136.3(FANCC):c.5dup (p.Gln3fs)
|
rs1268491295
|
|
NM_000136.3(FANCC):c.640dup (p.Ile214fs)
|
rs1057517203
|
|
NM_000136.3(FANCC):c.661G>T (p.Glu221Ter)
|
rs1830059125
|
|
NM_000136.3(FANCC):c.683dup (p.Leu228fs)
|
|
|
NM_000136.3(FANCC):c.686+1G>C
|
rs1057517125
|
|
NM_000136.3(FANCC):c.686+1G>T
|
rs1057517125
|
|
NM_000136.3(FANCC):c.687-1G>A
|
rs1588134748
|
|
NM_000136.3(FANCC):c.705del (p.Met236fs)
|
rs2135168243
|
|
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter)
|
rs2136101386
|
|
NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)
|
|
|
NM_000136.3(FANCC):c.793G>T (p.Glu265Ter)
|
rs1827526425
|
|
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter)
|
rs776054094
|
|
NM_000136.3(FANCC):c.822C>A (p.Cys274Ter)
|
|
|
NM_000136.3(FANCC):c.831del (p.Asp278fs)
|
rs1057516792
|
|
NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)
|
|
|
NM_000136.3(FANCC):c.843+1G>C
|
rs587779909
|
|
NM_000136.3(FANCC):c.843+1G>T
|
rs587779909
|
|
NM_000136.3(FANCC):c.844-1G>A
|
|
|
NM_000136.3(FANCC):c.844-1G>T
|
rs774209201
|
|
NM_000136.3(FANCC):c.883dup (p.Asp295fs)
|
rs1826007748
|
|
NM_000136.3(FANCC):c.896+1G>C
|
rs1554833186
|
|
NM_000136.3(FANCC):c.896+2T>A
|
rs863224441
|
|
NM_000136.3(FANCC):c.896+2T>G
|
rs863224441
|
|
NM_000136.3(FANCC):c.897-1G>A
|
rs1588101086
|
|
NM_000136.3(FANCC):c.907del (p.Leu303fs)
|
|
|
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)
|
rs1825775052
|
|
NM_000136.3(FANCC):c.996+1G>A
|
rs370510954
|
|
NM_000136.3(FANCC):c.996+1G>C
|
rs370510954
|
|
NM_000136.3(FANCC):c.996+1_996+2insGA
|
rs1825770738
|
|
NM_000136.3(FANCC):c.996+2T>C
|
|
|
NM_000136.3(FANCC):c.996G>A (p.Gln332=)
|
rs1825770865
|
|
NM_000175.5(GPI):c.1269+1G>A
|
|
|
NM_000175.5(GPI):c.1498_1501del (p.Val500fs)
|
|
|
NM_000175.5(GPI):c.283-2A>G
|
|
|
NM_000175.5(GPI):c.804+1_804+2del
|
|
|
NM_000175.5(GPI):c.812del (p.Gly271fs)
|
rs2145419704
|
|
NM_000175.5(GPI):c.937_952dup (p.Val318fs)
|
|
|
NM_000186.4(CFH):c.213G>A (p.Trp71Ter)
|
rs1210674261
|
|
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg)
|
rs886039869
|
|
NM_000186.4(CFH):c.2975T>G (p.Leu992Ter)
|
|
|
NM_000186.4(CFH):c.3173_3182del (p.Ala1057_Tyr1058insTer)
|
|
|
NM_000186.4(CFH):c.3542T>C (p.Leu1181Ser)
|
rs1573087200
|
|
NM_000186.4(CFH):c.58G>A (p.Asp20Asn)
|
rs1553270437
|
|
NM_000188.3(HK1):c.1354G>C (p.Gly452Arg)
|
rs2132884703
|
|
NM_000188.3(HK1):c.1370C>T (p.Thr457Met)
|
rs1057517928
|
|
NM_000253.4(MTTP):c.-149C>A
|
rs886058955
|
|
NM_000254.3(MTR):c.1135A>G (p.Asn379Asp)
|
rs1662641467
|
|
NM_000254.3(MTR):c.1188+1G>A
|
rs2103130072
|
|
NM_000254.3(MTR):c.1330-2A>T
|
|
|
NM_000254.3(MTR):c.1515+2T>C
|
|
|
NM_000254.3(MTR):c.1954-12A>G
|
|
|
NM_000254.3(MTR):c.2021G>A (p.Arg674His)
|
rs774231870
|
|
NM_000254.3(MTR):c.2044-1G>A
|
|
|
NM_000254.3(MTR):c.2305-1G>T
|
rs1664661222
|
|
NM_000254.3(MTR):c.2305-2A>G
|
|
|
NM_000254.3(MTR):c.2406-2A>T
|
|
|
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser)
|
rs1413989228
|
|
NM_000254.3(MTR):c.2595-2A>G
|
rs1558334603
|
|
NM_000254.3(MTR):c.2758C>G (p.His920Asp)
|
rs121913579
|
|
NM_000254.3(MTR):c.2775+1G>T
|
|
|
NM_000254.3(MTR):c.2851+2T>G
|
rs2147922731
|
|
NM_000254.3(MTR):c.3007+1G>C
|
|
|
NM_000254.3(MTR):c.3008-2A>G
|
|
|
NM_000254.3(MTR):c.3008-4A>G
|
rs1224783275
|
|
NM_000254.3(MTR):c.3053dup (p.Asn1018fs)
|
rs1400658126
|
|
NM_000254.3(MTR):c.34+2T>C
|
|
|
NM_000254.3(MTR):c.3406-2A>G
|
|
|
NM_000254.3(MTR):c.503-2A>G
|
|
|
NM_000254.3(MTR):c.866-2A>C
|
|
|
NM_000254.3(MTR):c.927+1G>A
|
|
|
NM_000254.3(MTR):c.927+1G>C
|
rs1572218599
|
|
NM_000289.6(PFKM):c.-8-2A>G
|
|
|
NM_000289.6(PFKM):c.1062+1G>A
|
|
|
NM_000289.6(PFKM):c.1062+2T>C
|
rs2135957798
|
|
NM_000289.6(PFKM):c.1127+1G>T
|
rs2135976459
|
|
NM_000289.6(PFKM):c.1128-2A>G
|
|
|
NM_000289.6(PFKM):c.1145G>A (p.Trp382Ter)
|
|
|
NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)
|
rs1064795749
|
|
NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)
|
|
|
NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)
|
rs121918193
|
|
NM_000289.6(PFKM):c.1192-2A>G
|
|
|
NM_000289.6(PFKM):c.1199C>A (p.Ser400Ter)
|
|
|
NM_000289.6(PFKM):c.1227_1228del (p.Ala410fs)
|
|
|
NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs)
|
|
|
NM_000289.6(PFKM):c.1282dup (p.Ile428fs)
|
|
|
NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)
|
|
|
NM_000289.6(PFKM):c.1341+1G>A
|
|
|
NM_000289.6(PFKM):c.1341+1G>C
|
|
|
NM_000289.6(PFKM):c.1342-1G>C
|
|
|
NM_000289.6(PFKM):c.1358G>A (p.Trp453Ter)
|
|
|
NM_000289.6(PFKM):c.1385_1386insTCCTGCTATAG (p.Gln462fs)
|
|
|
NM_000289.6(PFKM):c.1412+1G>T
|
|
|
NM_000289.6(PFKM):c.1412+2T>C
|
|
|
NM_000289.6(PFKM):c.1459A>T (p.Lys487Ter)
|
|
|
NM_000289.6(PFKM):c.1493del (p.Gly498fs)
|
|
|
NM_000289.6(PFKM):c.1500+2T>A
|
|
|
NM_000289.6(PFKM):c.1501-2del
|
rs1410122696
|
|
NM_000289.6(PFKM):c.159+1G>T
|
rs1305706304
|
|
NM_000289.6(PFKM):c.160-1G>C
|
|
|
NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)
|
rs866260025
|
|
NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs)
|
|
|
NM_000289.6(PFKM):c.1653+2T>G
|
|
|
NM_000289.6(PFKM):c.1717_1718del (p.Met573fs)
|
|
|
NM_000289.6(PFKM):c.1721del (p.Gly574fs)
|
|
|
NM_000289.6(PFKM):c.1734_1735del (p.Tyr579fs)
|
|
|
NM_000289.6(PFKM):c.1772A>C (p.Asp591Ala)
|
|
|
NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)
|
|
|
NM_000289.6(PFKM):c.184G>T (p.Gly62Ter)
|
|
|
NM_000289.6(PFKM):c.1859_1860del (p.Val620fs)
|
|
|
NM_000289.6(PFKM):c.1876_1877del (p.Leu626fs)
|
|
|
NM_000289.6(PFKM):c.1876_1880+2del
|
|
|
NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)
|
|
|
NM_000289.6(PFKM):c.1992+1G>T
|
|
|
NM_000289.6(PFKM):c.2047_2092+14del
|
|
|
NM_000289.6(PFKM):c.204_207delinsTG (p.Thr69fs)
|
|
|
NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)
|
rs1233958453
|
|
NM_000289.6(PFKM):c.2092+2T>C
|
|
|
NM_000289.6(PFKM):c.2175del (p.Glu725fs)
|
|
|
NM_000289.6(PFKM):c.238-3A>G
|
|
|
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)
|
rs121918195
|
|
NM_000289.6(PFKM):c.31dup (p.Thr11fs)
|
|
|
NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)
|
|
|
NM_000289.6(PFKM):c.399_400del (p.Ser133fs)
|
|
|
NM_000289.6(PFKM):c.465_466del (p.Leu156fs)
|
|
|
NM_000289.6(PFKM):c.491_500del (p.Ser164fs)
|
|
|
NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)
|
|
|
NM_000289.6(PFKM):c.582del (p.Thr195fs)
|
|
|
NM_000289.6(PFKM):c.594-1G>A
|
|
|
NM_000289.6(PFKM):c.631dup (p.His211fs)
|
|
|
NM_000289.6(PFKM):c.638+1G>T
|
|
|
NM_000289.6(PFKM):c.702dup (p.Pro235fs)
|
|
|
NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)
|
rs866904446
|
|
NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)
|
|
|
NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)
|
|
|
NM_000289.6(PFKM):c.851_852del (p.Val284fs)
|
|
|
NM_000289.6(PFKM):c.86-1G>C
|
|
|
NM_000289.6(PFKM):c.867T>A (p.Tyr289Ter)
|
|
|
NM_000289.6(PFKM):c.877dup (p.Val293fs)
|
|
|
NM_000289.6(PFKM):c.936+2T>G
|
|
|
NM_000298.6(PKLR):c.1015G>A (p.Asp339Asn)
|
rs747097960
|
|
NM_000298.6(PKLR):c.1022G>C (p.Gly341Ala)
|
|
|
NM_000298.6(PKLR):c.1067T>G (p.Met356Arg)
|
rs752423472
|
|
NM_000298.6(PKLR):c.1076G>C (p.Arg359Pro)
|
|
|
NM_000298.6(PKLR):c.1373G>A (p.Gly458Asp)
|
rs755522396
|
|
NM_000298.6(PKLR):c.1511G>A (p.Arg504His)
|
rs185753709
|
|
NM_000298.6(PKLR):c.1511G>T (p.Arg504Leu)
|
|
|
NM_000298.6(PKLR):c.1591C>A (p.Arg531Ser)
|
rs1674554041
|
|
NM_000298.6(PKLR):c.224T>C (p.Leu75Pro)
|
rs2148218886
|
|
NM_000298.6(PKLR):c.391_393del (p.Ile131del)
|
rs886045351
|
|
NM_000298.6(PKLR):c.754G>A (p.Val252Met)
|
|
|
NM_000298.6(PKLR):c.823G>C (p.Gly275Arg)
|
|
|
NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)
|
|
|
NM_000342.4(SLC4A1):c.1153G>C (p.Asp385His)
|
rs2047407019
|
|
NM_000342.4(SLC4A1):c.1199_1225del (p.Ala400_Ala408del)
|
rs769664228
|
|
NM_000342.4(SLC4A1):c.1322T>G (p.Leu441Arg)
|
rs1555596165
|
|
NM_000342.4(SLC4A1):c.2116C>A (p.Leu706Met)
|
|
|
NM_000342.4(SLC4A1):c.2159G>T (p.Gly720Val)
|
|
|
NM_000342.4(SLC4A1):c.2165C>T (p.Pro722Leu)
|
|
|
NM_000342.4(SLC4A1):c.2312G>T (p.Gly771Val)
|
rs121912741
|
|
NM_000342.4(SLC4A1):c.2369G>A (p.Gly790Asp)
|
|
|
NM_000342.4(SLC4A1):c.2423G>A (p.Arg808His)
|
rs866727908
|
|
NM_000342.4(SLC4A1):c.2464del (p.Val822fs)
|
|
|
NM_000342.4(SLC4A1):c.2573C>A (p.Ala858Asp)
|
rs121912751
|
|
NM_000342.4(SLC4A1):c.2716G>T (p.Glu906Ter)
|
rs199694087
|
|
NM_000342.4(SLC4A1):c.2726T>C (p.Met909Thr)
|
rs2047328405
|
|
NM_000342.4(SLC4A1):c.331C>T (p.Arg111Cys)
|
|
|
NM_000355.3(TCN2):c.497_498del (p.Leu166Profs)
|
rs778381859
|
|
NM_000355.4(TCN2):c.258-1G>A
|
|
|
NM_000355.4(TCN2):c.428-2A>G
|
rs2087581122
|
|
NM_000355.4(TCN2):c.580+1G>C
|
|
|
NM_000355.4(TCN2):c.65-1_65delinsTT
|
rs2145536487
|
|
NM_000355.4(TCN2):c.700del (p.Gln234fs)
|
rs2087597945
|
|
NM_000355.4(TCN2):c.941-2A>G
|
|
|
NM_000365.6(TPI1):c.544-1G>C
|
rs2138094606
|
|
NM_000373.4(UMPS):c.1123G>A (p.Gly375Ser)
|
rs1344899647
|
|
NM_000398.7(CYB5R3):c.182G>A (p.Arg61His)
|
|
|
NM_000398.7(CYB5R3):c.274C>T (p.Arg92Trp)
|
|
|
NM_000402.4(G6PD):c.1054T>C (p.Tyr352His)
|
rs137852347
|
|
NM_000402.4(G6PD):c.1172C>T (p.Ala391Val)
|
rs137852345
|
|
NM_000402.4(G6PD):c.1179C>A (p.Asn393Lys)
|
rs137852329
|
|
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)
|
rs137852320
|
|
NM_000402.4(G6PD):c.1270G>C (p.Val424Leu)
|
rs137852335
|
|
NM_000402.4(G6PD):c.1318G>T (p.Gly440Cys)
|
rs137852323
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
NM_000402.4(G6PD):c.1429G>A (p.Gly477Arg)
|
rs137852317
|
|
NM_000402.4(G6PD):c.1490C>G (p.Pro497Arg)
|
rs137852344
|
|
NM_000402.4(G6PD):c.1532C>G (p.Pro511Arg)
|
rs137852348
|
|
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)
|
rs137852341
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000402.4(G6PD):c.683G>C (p.Arg228Pro)
|
rs137852332
|
|
NM_000402.4(G6PD):c.727G>T (p.Val243Leu)
|
rs137852326
|
|
NM_000402.4(G6PD):c.738T>G (p.Phe246Leu)
|
rs137852319
|
|
NM_000402.4(G6PD):c.7C>T (p.Arg3Trp)
|
|
|
NM_000402.4(G6PD):c.896G>A (p.Cys299Tyr)
|
rs137852346
|
|
NM_000476.3(AK1):c.319C>T (p.Arg107Ter)
|
rs104894102
|
|
NM_000517.6(HBA2):c.301-1G>A
|
rs587776827
|
|
NM_000518.4(HBB):c.-136C>A
|
|
|
NM_000518.4(HBB):c.266T>C (p.Leu89Pro)
|
rs33940204
|
|
NM_000518.4(HBB):c.269G>A (p.Ser90Asn)
|
rs33917628
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000518.4(HBB):c.388G>C (p.Ala130Pro)
|
rs35939430
|
|
NM_000518.5(HBB):c.*110_*111del
|
rs63750205
|
|
NM_000518.5(HBB):c.*113A>G
|
rs33985472
|
|
NM_000518.5(HBB):c.-137C>G
|
rs33941377
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.135del (p.Phe46fs)
|
rs80356820
|
|
NM_000518.5(HBB):c.147del (p.Ser50fs)
|
rs1554917947
|
|
NM_000518.5(HBB):c.176del (p.Pro59fs)
|
rs35395625
|
|
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met)
|
rs193922552
|
|
NM_000518.5(HBB):c.1A>C (p.Met1Leu)
|
rs34563000
|
|
NM_000518.5(HBB):c.201del (p.Val68fs)
|
rs193922553
|
|
NM_000518.5(HBB):c.203_204del (p.Val68fs)
|
rs34282684
|
|
NM_000518.5(HBB):c.205C>T (p.Leu69Phe)
|
rs33961459
|
|
NM_000518.5(HBB):c.226del (p.Leu76fs)
|
rs34218908
|
|
NM_000518.5(HBB):c.230del (p.Ala77fs)
|
rs281864901
|
|
NM_000518.5(HBB):c.233_234del (p.His78fs)
|
rs2133588176
|
|
NM_000518.5(HBB):c.269del (p.Ser90fs)
|
rs2133587981
|
|
NM_000518.5(HBB):c.279C>G (p.His93Gln)
|
|
|
NM_000518.5(HBB):c.282_283dup (p.Asp95fs)
|
rs34533941
|
|
NM_000518.5(HBB):c.292_295dup (p.Val99fs)
|
rs1564874901
|
|
NM_000518.5(HBB):c.2T>A (p.Met1Lys)
|
rs33941849
|
|
NM_000518.5(HBB):c.2T>C (p.Met1Thr)
|
rs33941849
|
|
NM_000518.5(HBB):c.315+1G>C
|
rs33945777
|
|
NM_000518.5(HBB):c.315+2T>G
|
rs63750283
|
|
NM_000518.5(HBB):c.315+2del
|
rs1564874813
|
|
NM_000518.5(HBB):c.316-14T>G
|
rs35703285
|
|
NM_000518.5(HBB):c.316-1G>T
|
rs33952266
|
|
NM_000518.5(HBB):c.316-3C>A
|
rs33913413
|
|
NM_000518.5(HBB):c.316-7C>G
|
rs34483965
|
|
NM_000518.5(HBB):c.328G>A (p.Val110Met)
|
rs33969677
|
|
NM_000518.5(HBB):c.380T>A (p.Val127Glu)
|
rs33925391
|
|
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)
|
rs33999427
|
|
NM_000518.5(HBB):c.64dup (p.Asp22fs)
|
rs1554918165
|
|
NM_000518.5(HBB):c.85dup (p.Leu29fs)
|
rs35532010
|
|
NM_000518.5(HBB):c.91A>C (p.Arg31=)
|
rs35684407
|
|
NM_000518.5(HBB):c.92+1G>T
|
rs33971440
|
|
NM_000518.5(HBB):c.92+5G>A
|
rs33915217
|
|
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)
|
rs33960103
|
|
NM_000518.5(HBB):c.93-15T>G
|
rs35456885
|
|
NM_000558.5(HBA1):c.332C>A (p.Ala111Asp)
|
rs63749948
|
|
NM_000611.6(CD59):c.83G>A (p.Cys28Tyr)
|
rs1853849281
|
|
NM_000617.3(SLC11A2):c.223G>A (p.Gly75Arg)
|
rs1592380743
|
|
NM_000969.5(RPL5):c.122_144del (p.Lys41fs)
|
rs2100676969
|
|
NM_000969.5(RPL5):c.155_156dup (p.Val53Ter)
|
rs2100677045
|
|
NM_000969.5(RPL5):c.178_179del (p.Ile60fs)
|
|
|
NM_000969.5(RPL5):c.189+1G>C
|
|
|
NM_000969.5(RPL5):c.189+2T>G
|
rs1687004626
|
|
NM_000969.5(RPL5):c.190-7_190-2del
|
rs1064796479
|
|
NM_000969.5(RPL5):c.3+1G>A
|
|
|
NM_000969.5(RPL5):c.326T>C (p.Leu109Pro)
|
rs878854146
|
|
NM_000969.5(RPL5):c.4-10T>A
|
rs1686989669
|
|
NM_000969.5(RPL5):c.4-1G>A
|
|
|
NM_000969.5(RPL5):c.509del (p.Gly170fs)
|
|
|
NM_000969.5(RPL5):c.527+1G>T
|
rs2100685111
|
|
NM_000969.5(RPL5):c.613dup (p.Ala205fs)
|
rs2100688414
|
|
NM_000969.5(RPL5):c.715A>G (p.Met239Val)
|
|
|
NM_000969.5(RPL5):c.74-2A>G
|
rs2100676852
|
|
NM_000969.5(RPL5):c.74-2del
|
|
|
NM_000975.5(RPL11):c.136_157+26del
|
rs2124429146
|
|
NM_000975.5(RPL11):c.142_143dup (p.Val49fs)
|
rs1570566714
|
|
NM_000975.5(RPL11):c.264+1G>A
|
rs1553121795
|
|
NM_000975.5(RPL11):c.265-2A>G
|
rs2124430919
|
|
NM_000975.5(RPL11):c.296_298del (p.Phe99del)
|
rs1553121852
|
|
NM_000975.5(RPL11):c.397-2A>G
|
rs2124432051
|
|
NM_000975.5(RPL11):c.465_466del (p.His155fs)
|
rs1644530053
|
|
NM_000975.5(RPL11):c.465_475dup (p.Lys159fs)
|
|
|
NM_000975.5(RPL11):c.508-1G>A
|
|
|
NM_000975.5(RPL11):c.508-9_508-5del
|
|
|
NM_000996.4(RPL35A):c.125A>G (p.Tyr42Cys)
|
|
|
NM_000996.4(RPL35A):c.164+1G>A
|
rs113752862
|
|
NM_000996.4(RPL35A):c.165-16_166del
|
|
|
NM_000996.4(RPL35A):c.89T>C (p.Ile30Thr)
|
rs1720051488
|
|
NM_001002010.5(NT5C3A):c.342dup (p.Cys115fs)
|
rs2127996432
|
|
NM_001011.4(RPS7):c.-19+1G>A
|
rs1064796859
|
|
NM_001011.4(RPS7):c.508-3T>G
|
rs1572360944
|
|
NM_001011.4(RPS7):c.65_68del (p.Gly22fs)
|
|
|
NM_001011.4(RPS7):c.75+1G>T
|
|
|
NM_001014.5(RPS10):c.401-2A>G
|
rs1765648528
|
|
NM_001018113.3(FANCB):c.235T>C (p.Cys79Arg)
|
rs879254329
|
|
NM_001018113.3(FANCB):c.972del (p.Lys324fs)
|
|
|
NM_001018115.3(FANCD2):c.1052dup (p.Ser352fs)
|
|
|
NM_001018115.3(FANCD2):c.1098+2T>A
|
|
|
NM_001018115.3(FANCD2):c.1134+1G>A
|
|
|
NM_001018115.3(FANCD2):c.1135-1G>C
|
|
|
NM_001018115.3(FANCD2):c.1181dup (p.Thr395fs)
|
rs2125000228
|
|
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
|
|
|
NM_001018115.3(FANCD2):c.1279-2A>C
|
|
|
NM_001018115.3(FANCD2):c.1318C>T (p.Gln440Ter)
|
|
|
NM_001018115.3(FANCD2):c.1408C>T (p.Gln470Ter)
|
|
|
NM_001018115.3(FANCD2):c.1413+2T>C
|
rs1459222478
|
|
NM_001018115.3(FANCD2):c.1545+1G>T
|
|
|
NM_001018115.3(FANCD2):c.1546-1G>A
|
|
|
NM_001018115.3(FANCD2):c.1577del (p.Pro526fs)
|
|
|
NM_001018115.3(FANCD2):c.1588C>T (p.Arg530Ter)
|
|
|
NM_001018115.3(FANCD2):c.1632_1633del (p.Gln544_Asn545insTer)
|
|
|
NM_001018115.3(FANCD2):c.1656+1G>A
|
|
|
NM_001018115.3(FANCD2):c.1684C>T (p.Gln562Ter)
|
|
|
NM_001018115.3(FANCD2):c.1766+1G>A
|
|
|
NM_001018115.3(FANCD2):c.1790_1791del (p.Gln597fs)
|
|
|
NM_001018115.3(FANCD2):c.1827+1G>C
|
rs761074497
|
|
NM_001018115.3(FANCD2):c.1864G>T (p.Glu622Ter)
|
|
|
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)
|
rs2125032674
|
|
NM_001018115.3(FANCD2):c.1876C>T (p.Gln626Ter)
|
|
|
NM_001018115.3(FANCD2):c.1883_1884dup (p.Ala629fs)
|
rs757567225
|
|
NM_001018115.3(FANCD2):c.193C>T (p.Gln65Ter)
|
|
|
NM_001018115.3(FANCD2):c.1945del (p.Leu649fs)
|
|
|
NM_001018115.3(FANCD2):c.1947+1G>A
|
|
|
NM_001018115.3(FANCD2):c.205+1G>A
|
rs2124970985
|
|
NM_001018115.3(FANCD2):c.2052C>A (p.Tyr684Ter)
|
|
|
NM_001018115.3(FANCD2):c.206-1G>T
|
rs2124974541
|
|
NM_001018115.3(FANCD2):c.2094CCT[1] (p.Leu700del)
|
rs869312805
|
|
NM_001018115.3(FANCD2):c.2152C>T (p.Gln718Ter)
|
|
|
NM_001018115.3(FANCD2):c.2168_2168+1delinsT
|
rs2087674573
|
|
NM_001018115.3(FANCD2):c.2169-1G>C
|
rs141783465
|
|
NM_001018115.3(FANCD2):c.224dup (p.Gln76fs)
|
|
|
NM_001018115.3(FANCD2):c.2269+1G>A
|
|
|
NM_001018115.3(FANCD2):c.2270-1G>C
|
|
|
NM_001018115.3(FANCD2):c.230del (p.Lys77fs)
|
rs770835633
|
|
NM_001018115.3(FANCD2):c.2495-2A>G
|
|
|
NM_001018115.3(FANCD2):c.2605+2dup
|
rs2125048104
|
|
NM_001018115.3(FANCD2):c.2617_2620del (p.Lys873fs)
|
|
|
NM_001018115.3(FANCD2):c.2620dup (p.Thr874fs)
|
|
|
NM_001018115.3(FANCD2):c.2676_2700del (p.Cys893fs)
|
|
|
NM_001018115.3(FANCD2):c.2738dup (p.Thr914fs)
|
|
|
NM_001018115.3(FANCD2):c.2776C>T (p.Arg926Ter)
|
|
|
NM_001018115.3(FANCD2):c.2778_2779delinsGT (p.Glu927Ter)
|
|
|
NM_001018115.3(FANCD2):c.2845G>T (p.Glu949Ter)
|
rs762724830
|
|
NM_001018115.3(FANCD2):c.302_303del (p.Glu101fs)
|
rs2124975164
|
|
NM_001018115.3(FANCD2):c.308dup (p.Tyr103Ter)
|
|
|
NM_001018115.3(FANCD2):c.3095del (p.Asn1032fs)
|
rs1559399574
|
|
NM_001018115.3(FANCD2):c.309C>A (p.Tyr103Ter)
|
|
|
NM_001018115.3(FANCD2):c.309C>G (p.Tyr103Ter)
|
|
|
NM_001018115.3(FANCD2):c.3219del (p.Phe1073fs)
|
rs1575824608
|
|
NM_001018115.3(FANCD2):c.3224+1G>C
|
|
|
NM_001018115.3(FANCD2):c.3224+1G>T
|
rs1468320596
|
|
NM_001018115.3(FANCD2):c.3225G>A (p.Trp1075Ter)
|
|
|
NM_001018115.3(FANCD2):c.3252_3253del (p.Asn1085fs)
|
|
|
NM_001018115.3(FANCD2):c.3301_3304del (p.Gly1101fs)
|
|
|
NM_001018115.3(FANCD2):c.3337C>T (p.Gln1113Ter)
|
|
|
NM_001018115.3(FANCD2):c.3378del (p.Ser1127fs)
|
rs2125072480
|
|
NM_001018115.3(FANCD2):c.3466+1G>A
|
|
|
NM_001018115.3(FANCD2):c.3467-2A>G
|
|
|
NM_001018115.3(FANCD2):c.3560+1G>A
|
|
|
NM_001018115.3(FANCD2):c.3561-1del
|
rs2125077559
|
|
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
|
|
|
NM_001018115.3(FANCD2):c.3749_3777+789del
|
rs2125081509
|
|
NM_001018115.3(FANCD2):c.378-1G>C
|
|
|
NM_001018115.3(FANCD2):c.3798_3799del (p.Tyr1267fs)
|
|
|
NM_001018115.3(FANCD2):c.3849+1G>A
|
|
|
NM_001018115.3(FANCD2):c.3849+1G>T
|
|
|
NM_001018115.3(FANCD2):c.3889-1G>A
|
|
|
NM_001018115.3(FANCD2):c.3889-2A>G
|
|
|
NM_001018115.3(FANCD2):c.389del (p.Ser130fs)
|
|
|
NM_001018115.3(FANCD2):c.3963_3963+1inv
|
|
|
NM_001018115.3(FANCD2):c.39dup (p.Glu14fs)
|
rs1575723664
|
|
NM_001018115.3(FANCD2):c.4038+2T>G
|
|
|
NM_001018115.3(FANCD2):c.4039-2A>G
|
|
|
NM_001018115.3(FANCD2):c.4090del (p.Leu1364fs)
|
|
|
NM_001018115.3(FANCD2):c.4100T>G (p.Leu1367Ter)
|
|
|
NM_001018115.3(FANCD2):c.4186-2A>G
|
|
|
NM_001018115.3(FANCD2):c.505G>T (p.Glu169Ter)
|
rs2086805219
|
|
NM_001018115.3(FANCD2):c.520C>T (p.Arg174Ter)
|
|
|
NM_001018115.3(FANCD2):c.571-2A>G
|
|
|
NM_001018115.3(FANCD2):c.64+1_64+2del
|
rs777719596
|
|
NM_001018115.3(FANCD2):c.64+2T>G
|
rs2124961184
|
|
NM_001018115.3(FANCD2):c.65-1G>T
|
|
|
NM_001018115.3(FANCD2):c.65-2A>G
|
|
|
NM_001018115.3(FANCD2):c.661dup (p.Asp221fs)
|
|
|
NM_001018115.3(FANCD2):c.667del (p.Gln223fs)
|
|
|
NM_001018115.3(FANCD2):c.694_695+14del
|
|
|
NM_001018115.3(FANCD2):c.695+1G>A
|
|
|
NM_001018115.3(FANCD2):c.695+2T>A
|
|
|
NM_001018115.3(FANCD2):c.707_708del (p.Ile236fs)
|
rs2086865775
|
|
NM_001018115.3(FANCD2):c.842dup (p.Ile282fs)
|
|
|
NM_001018115.3(FANCD2):c.888+1G>A
|
|
|
NM_001018115.3(FANCD2):c.889-2A>G
|
|
|
NM_001018115.3(FANCD2):c.92del (p.Lys31fs)
|
rs1378830983
|
|
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)
|
rs1223055462
|
|
NM_001021.6(RPS17):c.156-1G>A
|
|
|
NM_001022.4(RPS19):c.140C>T (p.Pro47Leu)
|
|
|
NM_001022.4(RPS19):c.167G>A (p.Arg56Gln)
|
|
|
NM_001022.4(RPS19):c.167G>T (p.Arg56Leu)
|
|
|
NM_001022.4(RPS19):c.176C>T (p.Ser59Phe)
|
|
|
NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
|
|
|
NM_001022.4(RPS19):c.335TGG[1] (p.Val113del)
|
rs1064794604
|
|
NM_001022.4(RPS19):c.356+1G>A
|
rs879993801
|
|
NM_001022.4(RPS19):c.356+3A>C
|
rs1555841379
|
|
NM_001022.4(RPS19):c.380G>A (p.Gly127Glu)
|
rs786200936
|
|
NM_001022.4(RPS19):c.382C>T (p.Gln128Ter)
|
rs1060503688
|
|
NM_001022.4(RPS19):c.411+2_411+6del
|
|
|
NM_001022.4(RPS19):c.71+1G>C
|
rs2123256342
|
|
NM_001022.4(RPS19):c.71del (p.Lys24fs)
|
|
|
NM_001022.4(RPS19):c.72-1G>A
|
rs146366047
|
|
NM_001029.5(RPS26):c.181+1G>A
|
|
|
NM_001029.5(RPS26):c.221G>A (p.Cys74Tyr)
|
|
|
NM_001029.5(RPS26):c.224_225del (p.Val75fs)
|
rs1555208596
|
|
NM_001029.5(RPS26):c.2T>A (p.Met1Lys)
|
|
|
NM_001029.5(RPS26):c.3+1G>T
|
|
|
NM_001029.5(RPS26):c.3+2T>G
|
rs2136753495
|
|
NM_001029.5(RPS26):c.312+1G>C
|
|
|
NM_001029.5(RPS26):c.312+2T>A
|
rs1593023809
|
|
NM_001029.5(RPS26):c.313-2A>G
|
|
|
NM_001029.5(RPS26):c.344T>C (p.Met115Thr)
|
|
|
NM_001029.5(RPS26):c.4-1_6del
|
|
|
NM_001029.5(RPS26):c.73_76del (p.Asn25fs)
|
rs2136753850
|
|
NM_001032.5(RPS29):c.149T>C (p.Ile50Thr)
|
rs587777569
|
|
NM_001040436.3(YARS2):c.156C>G (p.Phe52Leu)
|
rs267607180
|
|
NM_001042351.1(G6PD):c.[317C>G;544C>T;592C>T]
|
|
|
NM_001042351.1(G6PD):c.[376A>G;542A>T]
|
|
|
NM_001063.4(TF):c.1444C>T (p.Pro482Ser)
|
rs2107925842
|
|
NM_001063.4(TF):c.1825C>T (p.Arg609Trp)
|
rs773139494
|
|
NM_001081.4(CUBN):c.10033-1G>A
|
|
|
NM_001081.4(CUBN):c.1015+1G>A
|
|
|
NM_001081.4(CUBN):c.10285dup (p.Gln3429fs)
|
rs754704005
|
|
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter)
|
rs201426128
|
|
NM_001081.4(CUBN):c.10528+1G>A
|
|
|
NM_001081.4(CUBN):c.1230+1G>A
|
rs386833766
|
|
NM_001081.4(CUBN):c.1436C>G (p.Ser479Ter)
|
rs386833767
|
|
NM_001081.4(CUBN):c.1526del (p.Gly509fs)
|
rs386833768
|
|
NM_001081.4(CUBN):c.1530G>A (p.Lys510=)
|
rs386833769
|
|
NM_001081.4(CUBN):c.1838del (p.Gly613fs)
|
rs386833770
|
|
NM_001081.4(CUBN):c.1951C>T (p.Arg651Ter)
|
rs182512508
|
|
NM_001081.4(CUBN):c.2068A>G (p.Ile690Val)
|
rs386833772
|
|
NM_001081.4(CUBN):c.2486C>T (p.Ser829Leu)
|
rs386833773
|
|
NM_001081.4(CUBN):c.250C>T (p.Gln84Ter)
|
rs386833774
|
|
NM_001081.4(CUBN):c.2515_2533del (p.Glu839fs)
|
rs386833775
|
|
NM_001081.4(CUBN):c.252+1G>A
|
rs386833776
|
|
NM_001081.4(CUBN):c.2614_2615del (p.Asp872fs)
|
rs386833777
|
|
NM_001081.4(CUBN):c.2673C>A (p.Cys891Ter)
|
rs386833778
|
|
NM_001081.4(CUBN):c.2792-1G>T
|
rs2131845016
|
|
NM_001081.4(CUBN):c.2949C>A (p.Tyr983Ter)
|
rs386833779
|
|
NM_001081.4(CUBN):c.3008+2_3008+5del
|
rs2131844654
|
|
NM_001081.4(CUBN):c.3056C>G (p.Ser1019Ter)
|
rs386833780
|
|
NM_001081.4(CUBN):c.3330-439C>G
|
rs386833782
|
|
NM_001081.4(CUBN):c.3473G>A (p.Trp1158Ter)
|
rs1564492988
|
|
NM_001081.4(CUBN):c.3577T>G (p.Trp1193Gly)
|
rs386833783
|
|
NM_001081.4(CUBN):c.3749C>T (p.Ser1250Phe)
|
rs386833784
|
|
NM_001081.4(CUBN):c.3829+1G>A
|
|
|
NM_001081.4(CUBN):c.3999C>A (p.Cys1333Ter)
|
rs386833785
|
|
NM_001081.4(CUBN):c.4115C>G (p.Thr1372Arg)
|
rs386833786
|
|
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs)
|
rs774493547
|
|
NM_001081.4(CUBN):c.434G>A (p.Gly145Glu)
|
rs386833788
|
|
NM_001081.4(CUBN):c.4350+2T>C
|
rs371489485
|
|
NM_001081.4(CUBN):c.4351-1G>C
|
|
|
NM_001081.4(CUBN):c.4460_4464del (p.Arg1487fs)
|
rs770921101
|
|
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer)
|
rs2131697094
|
|
NM_001081.4(CUBN):c.489G>A (p.Lys163=)
|
rs386833789
|
|
NM_001081.4(CUBN):c.4921del (p.Tyr1641fs)
|
rs1564443979
|
|
NM_001081.4(CUBN):c.4969+2T>G
|
|
|
NM_001081.4(CUBN):c.4973del (p.Asn1658fs)
|
rs1588511533
|
|
NM_001081.4(CUBN):c.5318G>A (p.Gly1773Asp)
|
|
|
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs)
|
rs1168074679
|
|
NM_001081.4(CUBN):c.5549-2A>C
|
rs1564435513
|
|
NM_001081.4(CUBN):c.5913_5916del (p.Thr1972fs)
|
rs765301342
|
|
NM_001081.4(CUBN):c.673T>A (p.Cys225Ser)
|
rs386833790
|
|
NM_001081.4(CUBN):c.6822-1G>A
|
|
|
NM_001081.4(CUBN):c.7001-2A>T
|
rs2131458620
|
|
NM_001081.4(CUBN):c.7001-2del
|
rs756427983
|
|
NM_001081.4(CUBN):c.7534-1G>T
|
rs1588639188
|
|
NM_001081.4(CUBN):c.8063-1G>A
|
|
|
NM_001081.4(CUBN):c.8755+2T>C
|
|
|
NM_001081.4(CUBN):c.884-1G>A
|
|
|
NM_001081.4(CUBN):c.889C>T (p.Gln297Ter)
|
rs386833791
|
|
NM_001081.4(CUBN):c.9237-1G>C
|
|
|
NM_001081.4(CUBN):c.9949C>T (p.Gln3317Ter)
|
rs1564379463
|
|
NM_001083116.3(PRF1):c.1078_1079del (p.Leu360fs)
|
|
|
NM_001083116.3(PRF1):c.1096C>T (p.Gln366Ter)
|
|
|
NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)
|
|
|
NM_001083116.3(PRF1):c.1274G>A (p.Trp425Ter)
|
|
|
NM_001083116.3(PRF1):c.1383G>A (p.Trp461Ter)
|
|
|
NM_001083116.3(PRF1):c.218G>A (p.Cys73Tyr)
|
|
|
NM_001083116.3(PRF1):c.229_233dup (p.Asn78fs)
|
|
|
NM_001083116.3(PRF1):c.478C>T (p.Gln160Ter)
|
|
|
NM_001083116.3(PRF1):c.523G>T (p.Glu175Ter)
|
|
|
NM_001083116.3(PRF1):c.539+2T>A
|
|
|
NM_001083116.3(PRF1):c.563dup (p.Leu189fs)
|
rs1454231642
|
|
NM_001083116.3(PRF1):c.581dup (p.Arg195fs)
|
|
|
NM_001083116.3(PRF1):c.982_998del (p.Trp328fs)
|
|
|
NM_001113378.2(FANCI):c.1024C>T (p.Gln342Ter)
|
|
|
NM_001113378.2(FANCI):c.1112+2T>C
|
|
|
NM_001113378.2(FANCI):c.1113-1G>A
|
rs2151485792
|
|
NM_001113378.2(FANCI):c.1148dup (p.Glu384fs)
|
|
|
NM_001113378.2(FANCI):c.1186A>T (p.Lys396Ter)
|
|
|
NM_001113378.2(FANCI):c.1246C>T (p.Gln416Ter)
|
|
|
NM_001113378.2(FANCI):c.1293+1G>A
|
rs768310043
|
|
NM_001113378.2(FANCI):c.1293+1G>T
|
|
|
NM_001113378.2(FANCI):c.1293+2T>G
|
|
|
NM_001113378.2(FANCI):c.1381+1G>T
|
|
|
NM_001113378.2(FANCI):c.1467del (p.Leu491fs)
|
|
|
NM_001113378.2(FANCI):c.1512+1G>A
|
rs2151551135
|
|
NM_001113378.2(FANCI):c.157+1G>A
|
|
|
NM_001113378.2(FANCI):c.158-2A>G
|
rs762128147
|
|
NM_001113378.2(FANCI):c.1584-1G>A
|
|
|
NM_001113378.2(FANCI):c.1584-1G>C
|
|
|
NM_001113378.2(FANCI):c.1641_1642dup (p.Lys548fs)
|
|
|
NM_001113378.2(FANCI):c.1694dup (p.Ser565fs)
|
|
|
NM_001113378.2(FANCI):c.1698+1G>A
|
|
|
NM_001113378.2(FANCI):c.1699-2A>C
|
|
|
NM_001113378.2(FANCI):c.1751del (p.Cys584fs)
|
|
|
NM_001113378.2(FANCI):c.1890+1G>T
|
|
|
NM_001113378.2(FANCI):c.1897C>T (p.Gln633Ter)
|
|
|
NM_001113378.2(FANCI):c.1933_1934del (p.Leu645fs)
|
|
|
NM_001113378.2(FANCI):c.1967dup (p.Asp656fs)
|
|
|
NM_001113378.2(FANCI):c.1981C>T (p.Gln661Ter)
|
|
|
NM_001113378.2(FANCI):c.2059C>T (p.Gln687Ter)
|
|
|
NM_001113378.2(FANCI):c.2084_2088del (p.Glu695fs)
|
|
|
NM_001113378.2(FANCI):c.2097C>G (p.Tyr699Ter)
|
|
|
NM_001113378.2(FANCI):c.2142dup (p.Lys715Ter)
|
|
|
NM_001113378.2(FANCI):c.2162_2163del (p.Asp720_Phe721insTer)
|
|
|
NM_001113378.2(FANCI):c.2169+1G>A
|
|
|
NM_001113378.2(FANCI):c.2169+2T>C
|
|
|
NM_001113378.2(FANCI):c.2216del (p.Asn739fs)
|
|
|
NM_001113378.2(FANCI):c.2291+1G>A
|
|
|
NM_001113378.2(FANCI):c.2291+2T>A
|
rs1400441798
|
|
NM_001113378.2(FANCI):c.2292-1G>T
|
|
|
NM_001113378.2(FANCI):c.2332dup (p.Tyr778fs)
|
rs1567165630
|
|
NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)
|
rs758062617
|
|
NM_001113378.2(FANCI):c.238dup (p.Asp80fs)
|
|
|
NM_001113378.2(FANCI):c.2456+1G>A
|
|
|
NM_001113378.2(FANCI):c.2457-2A>G
|
rs2054196709
|
|
NM_001113378.2(FANCI):c.2467C>T (p.Gln823Ter)
|
|
|
NM_001113378.2(FANCI):c.249del (p.Glu84fs)
|
|
|
NM_001113378.2(FANCI):c.2578del (p.Ser860fs)
|
|
|
NM_001113378.2(FANCI):c.2626del (p.Asp876fs)
|
|
|
NM_001113378.2(FANCI):c.2635C>T (p.Arg879Ter)
|
|
|
NM_001113378.2(FANCI):c.2637-1G>C
|
|
|
NM_001113378.2(FANCI):c.2637-1G>T
|
|
|
NM_001113378.2(FANCI):c.2656_2657del (p.Thr886fs)
|
|
|
NM_001113378.2(FANCI):c.2680G>T (p.Glu894Ter)
|
|
|
NM_001113378.2(FANCI):c.2693_2694del (p.Lys898fs)
|
|
|
NM_001113378.2(FANCI):c.2695_2698del (p.Glu899fs)
|
rs745893292
|
|
NM_001113378.2(FANCI):c.2697_2698del (p.Lys900fs)
|
|
|
NM_001113378.2(FANCI):c.2726T>A (p.Leu909Ter)
|
|
|
NM_001113378.2(FANCI):c.2737C>T (p.Gln913Ter)
|
rs1359408831
|
|
NM_001113378.2(FANCI):c.2804-1G>C
|
rs2054480330
|
|
NM_001113378.2(FANCI):c.2804-2A>G
|
|
|
NM_001113378.2(FANCI):c.2804-2A>T
|
|
|
NM_001113378.2(FANCI):c.2831_2834del (p.Arg944fs)
|
|
|
NM_001113378.2(FANCI):c.2858dup (p.Arg954fs)
|
rs2054482551
|
|
NM_001113378.2(FANCI):c.2889+1G>A
|
|
|
NM_001113378.2(FANCI):c.2889+2T>C
|
|
|
NM_001113378.2(FANCI):c.2890-2A>C
|
|
|
NM_001113378.2(FANCI):c.295del (p.His99fs)
|
rs759398314
|
|
NM_001113378.2(FANCI):c.2975T>A (p.Leu992Ter)
|
|
|
NM_001113378.2(FANCI):c.3006+1G>A
|
|
|
NM_001113378.2(FANCI):c.3007-1G>A
|
|
|
NM_001113378.2(FANCI):c.3007-1G>C
|
|
|
NM_001113378.2(FANCI):c.3007-1G>T
|
|
|
NM_001113378.2(FANCI):c.3058+1G>C
|
|
|
NM_001113378.2(FANCI):c.3116del (p.Tyr1039fs)
|
|
|
NM_001113378.2(FANCI):c.3117T>G (p.Tyr1039Ter)
|
|
|
NM_001113378.2(FANCI):c.3118_3119del (p.Lys1040fs)
|
rs907106559
|
|
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs)
|
rs1596324325
|
|
NM_001113378.2(FANCI):c.3147del (p.Leu1049fs)
|
|
|
NM_001113378.2(FANCI):c.3187-2A>G
|
|
|
NM_001113378.2(FANCI):c.3255+1G>C
|
rs779079622
|
|
NM_001113378.2(FANCI):c.3291_3297delinsCTGGT (p.Glu1097fs)
|
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
NM_001113378.2(FANCI):c.349A>T (p.Arg117Ter)
|
|
|
NM_001113378.2(FANCI):c.3538-2A>T
|
rs1407605188
|
|
NM_001113378.2(FANCI):c.3544C>T (p.Gln1182Ter)
|
|
|
NM_001113378.2(FANCI):c.358dup (p.Ser120fs)
|
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
NM_001113378.2(FANCI):c.3652-1G>T
|
|
|
NM_001113378.2(FANCI):c.3662del (p.Lys1221fs)
|
rs1567179036
|
|
NM_001113378.2(FANCI):c.3799del (p.Leu1267fs)
|
|
|
NM_001113378.2(FANCI):c.3895C>T (p.Arg1299Ter)
|
rs551305056
|
|
NM_001113378.2(FANCI):c.3924+1G>A
|
rs864622739
|
|
NM_001113378.2(FANCI):c.3924+2T>C
|
|
|
NM_001113378.2(FANCI):c.422del (p.Lys141fs)
|
|
|
NM_001113378.2(FANCI):c.446-2A>G
|
|
|
NM_001113378.2(FANCI):c.446del
|
|
|
NM_001113378.2(FANCI):c.475_481del (p.Gln159fs)
|
|
|
NM_001113378.2(FANCI):c.490del (p.Leu164fs)
|
|
|
NM_001113378.2(FANCI):c.504-2A>G
|
|
|
NM_001113378.2(FANCI):c.542_545+57del
|
|
|
NM_001113378.2(FANCI):c.669+1G>T
|
|
|
NM_001113378.2(FANCI):c.679_682del (p.Lys227fs)
|
rs2151304648
|
|
NM_001113378.2(FANCI):c.685_686del (p.Val229fs)
|
|
|
NM_001113378.2(FANCI):c.782C>G (p.Ser261Ter)
|
|
|
NM_001113378.2(FANCI):c.823_824del (p.Ile275fs)
|
|
|
NM_001113378.2(FANCI):c.834del (p.Ile279fs)
|
rs748961800
|
|
NM_001113378.2(FANCI):c.84+2_84+3del
|
|
|
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)
|
rs760412752
|
|
NM_001113378.2(FANCI):c.85-1G>A
|
|
|
NM_001113378.2(FANCI):c.85-1G>T
|
|
|
NM_001113378.2(FANCI):c.85-2A>G
|
|
|
NM_001113378.2(FANCI):c.879_882+14del
|
|
|
NM_001113378.2(FANCI):c.882+2T>A
|
rs2053066295
|
|
NM_001113378.2(FANCI):c.882+2T>C
|
|
|
NM_001113378.2(FANCI):c.886G>T (p.Gly296Ter)
|
rs754986558
|
|
NM_001113378.2(FANCI):c.889C>T (p.Gln297Ter)
|
|
|
NM_001113378.2(FANCI):c.976-1G>T
|
|
|
NM_001113378.2(FANCI):c.996_997del (p.Ser333fs)
|
|
|
NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter)
|
rs761982725
|
|
NM_001114134.2(EPB42):c.1887del (p.Leu630fs)
|
|
|
NM_001114134.2(EPB42):c.323C>T (p.Thr108Ile)
|
rs2142314789
|
|
NM_001114134.2(EPB42):c.971+8_971+9delinsAA
|
rs2142290623
|
|
NM_001142864.4(PIEZO1):c.3191G>T (p.Cys1064Phe)
|
rs1904821405
|
|
NM_001142864.4(PIEZO1):c.6008C>A (p.Ala2003Asp)
|
|
|
NM_001243177.4(ALDOA):c.1001C>T (p.Ala334Val)
|
rs2151019295
|
|
NM_001243177.4(ALDOA):c.1178G>A (p.Cys393Tyr)
|
rs2151019809
|
|
NM_001271696.3(ABCB7):c.1235T>C (p.Met412Thr)
|
rs1057518042
|
|
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys)
|
rs587777101
|
|
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln)
|
rs587777100
|
|
NM_001321759.2(CDIN1):c.689A>C (p.His230Pro)
|
rs1595503440
|
|
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn)
|
rs1556323334
|
|
NM_001355436.2(SPTB):c.1182+2T>C
|
rs2139613101
|
|
NM_001355436.2(SPTB):c.1465G>T (p.Glu489Ter)
|
|
|
NM_001355436.2(SPTB):c.146C>T (p.Ala49Val)
|
|
|
NM_001355436.2(SPTB):c.1795+1G>A
|
rs786204766
|
|
NM_001355436.2(SPTB):c.1908del (p.Lys637fs)
|
|
|
NM_001355436.2(SPTB):c.1921A>T (p.Lys641Ter)
|
|
|
NM_001355436.2(SPTB):c.2137C>T (p.Gln713Ter)
|
|
|
NM_001355436.2(SPTB):c.2163_2164dup (p.Ser722fs)
|
|
|
NM_001355436.2(SPTB):c.2863C>T (p.Arg955Ter)
|
rs1555369657
|
|
NM_001355436.2(SPTB):c.3082C>T (p.Gln1028Ter)
|
|
|
NM_001355436.2(SPTB):c.3106del (p.Gln1036fs)
|
|
|
NM_001355436.2(SPTB):c.3784_3787del (p.Lys1262fs)
|
rs1594773586
|
|
NM_001355436.2(SPTB):c.3877A>T (p.Lys1293Ter)
|
rs763084936
|
|
NM_001355436.2(SPTB):c.3916C>T (p.Arg1306Ter)
|
rs150471537
|
|
NM_001355436.2(SPTB):c.4178del (p.Lys1393fs)
|
|
|
NM_001355436.2(SPTB):c.474+1G>A
|
|
|
NM_001355436.2(SPTB):c.4800dup (p.Gly1601fs)
|
|
|
NM_001355436.2(SPTB):c.4843-1G>C
|
|
|
NM_001355436.2(SPTB):c.4973+5G>A
|
rs1555367789
|
|
NM_001355436.2(SPTB):c.5178+1G>A
|
|
|
NM_001355436.2(SPTB):c.5446A>T (p.Lys1816Ter)
|
rs1480466529
|
|
NM_001355436.2(SPTB):c.5455G>T (p.Glu1819Ter)
|
rs200386310
|
|
NM_001355436.2(SPTB):c.5953C>T (p.Gln1985Ter)
|
|
|
NM_001355436.2(SPTB):c.6055T>C (p.Ser2019Pro)
|
rs121918648
|
|
NM_001355436.2(SPTB):c.6119C>T (p.Thr2040Ile)
|
rs1345709572
|
|
NM_001355436.2(SPTB):c.6194_6195dup (p.Ala2066fs)
|
rs1555366592
|
|
NM_001355436.2(SPTB):c.647+1G>A
|
|
|
NM_001355436.2(SPTB):c.647G>A (p.Arg216Gln)
|
rs1555371769
|
|
NM_001358263.1(HK1):c.1A>T (p.Met1Leu)
|
rs1589439508
|
|
NM_001360016.2(G6PD):c.1006A>G (p.Thr336Ala)
|
|
|
NM_001360016.2(G6PD):c.102CAT[2] (p.Ile36del)
|
rs137852338
|
|
NM_001360016.2(G6PD):c.1030G>A (p.Val344Met)
|
|
|
NM_001360016.2(G6PD):c.1052G>T (p.Gly351Val)
|
|
|
NM_001360016.2(G6PD):c.1063A>G (p.Ile355Val)
|
|
|
NM_001360016.2(G6PD):c.1067T>A (p.Leu356Gln)
|
|
|
NM_001360016.2(G6PD):c.1081G>A (p.Ala361Thr)
|
|
|
NM_001360016.2(G6PD):c.1084_1101del (p.Leu362_Ala367del)
|
|
|
NM_001360016.2(G6PD):c.1088A>T (p.Asn363Ile)
|
rs1557229736
|
|
NM_001360016.2(G6PD):c.1094G>A (p.Arg365His)
|
|
|
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
|
|
|
NM_001360016.2(G6PD):c.1141T>C (p.Phe381Leu)
|
|
|
NM_001360016.2(G6PD):c.1154G>T (p.Cys385Phe)
|
|
|
NM_001360016.2(G6PD):c.1166A>G (p.Glu389Gly)
|
|
|
NM_001360016.2(G6PD):c.1175T>C (p.Ile392Thr)
|
|
|
NM_001360016.2(G6PD):c.1177C>T (p.Arg393Cys)
|
rs2148328873
|
|
NM_001360016.2(G6PD):c.1193A>G (p.Glu398Gly)
|
|
|
NM_001360016.2(G6PD):c.1229G>C (p.Gly410Ala)
|
|
|
NM_001360016.2(G6PD):c.1291G>A (p.Val431Met)
|
|
|
NM_001360016.2(G6PD):c.1315C>T (p.Arg439Cys)
|
rs2148328604
|
|
NM_001360016.2(G6PD):c.1318C>T (p.Leu440Phe)
|
rs1557229599
|
|
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
|
|
|
NM_001360016.2(G6PD):c.1340G>T (p.Gly447Val)
|
|
|
NM_001360016.2(G6PD):c.1342A>G (p.Ser448Gly)
|
|
|
NM_001360016.2(G6PD):c.1346A>G (p.Gln449Arg)
|
|
|
NM_001360016.2(G6PD):c.1351C>T (p.His451Tyr)
|
|
|
NM_001360016.2(G6PD):c.1358T>A (p.Val453Glu)
|
|
|
NM_001360016.2(G6PD):c.1361G>T (p.Arg454Leu)
|
|
|
NM_001360016.2(G6PD):c.1366G>C (p.Asp456His)
|
|
|
NM_001360016.2(G6PD):c.1367A>T (p.Asp456Val)
|
|
|
NM_001360016.2(G6PD):c.1372C>T (p.Leu458Phe)
|
|
|
NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)
|
|
|
NM_001360016.2(G6PD):c.1375C>T (p.Arg459Cys)
|
rs2070346788
|
|
NM_001360016.2(G6PD):c.1376G>A (p.Arg459His)
|
rs72554665
|
|
NM_001360016.2(G6PD):c.1380G>C (p.Glu460Asp)
|
|
|
NM_001360016.2(G6PD):c.1381G>A (p.Ala461Thr)
|
|
|
NM_001360016.2(G6PD):c.1387C>A (p.Arg463Ser)
|
|
|
NM_001360016.2(G6PD):c.1387C>T (p.Arg463Cys)
|
|
|
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala)
|
rs202122673
|
|
NM_001360016.2(G6PD):c.1457+7_1458-43del
|
|
|
NM_001360016.2(G6PD):c.148C>T (p.Pro50Ser)
|
|
|
NM_001360016.2(G6PD):c.1490_1492del (p.Lys497del)
|
|
|
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile)
|
rs2148332084
|
|
NM_001360016.2(G6PD):c.170G>A (p.Arg57Gln)
|
|
|
NM_001360016.2(G6PD):c.179T>C (p.Leu60Pro)
|
|
|
NM_001360016.2(G6PD):c.185C>A (p.Pro62His)
|
|
|
NM_001360016.2(G6PD):c.185C>T (p.Pro62Leu)
|
|
|
NM_001360016.2(G6PD):c.187G>A (p.Glu63Lys)
|
|
|
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala)
|
rs199474830
|
|
NM_001360016.2(G6PD):c.197T>G (p.Phe66Cys)
|
|
|
NM_001360016.2(G6PD):c.219C>T (p.Ser73=)
|
|
|
NM_001360016.2(G6PD):c.224T>C (p.Leu75Pro)
|
|
|
NM_001360016.2(G6PD):c.227C>A (p.Thr76Lys)
|
|
|
NM_001360016.2(G6PD):c.235G>C (p.Asp79His)
|
rs2148331875
|
|
NM_001360016.2(G6PD):c.274C>T (p.Pro92Ser)
|
|
|
NM_001360016.2(G6PD):c.290A>T (p.Lys97Met)
|
|
|
NM_001360016.2(G6PD):c.305T>C (p.Phe102Ser)
|
rs886044847
|
|
NM_001360016.2(G6PD):c.312C>T (p.Arg104=)
|
|
|
NM_001360016.2(G6PD):c.34G>T (p.Val12Leu)
|
|
|
NM_001360016.2(G6PD):c.352T>C (p.Tyr118His)
|
|
|
NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser)
|
rs2148331380
|
|
NM_001360016.2(G6PD):c.356A>C (p.Gln119Pro)
|
|
|
NM_001360016.2(G6PD):c.371A>G (p.His124Arg)
|
|
|
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)
|
rs1050829
|
|
NM_001360016.2(G6PD):c.383T>G (p.Leu128Arg)
|
rs78365220
|
|
NM_001360016.2(G6PD):c.407G>A (p.Arg136His)
|
|
|
NM_001360016.2(G6PD):c.409C>T (p.Leu137Phe)
|
|
|
NM_001360016.2(G6PD):c.442G>A (p.Glu148Lys)
|
|
|
NM_001360016.2(G6PD):c.448G>A (p.Val150Ile)
|
rs1557230573
|
|
NM_001360016.2(G6PD):c.463C>G (p.His155Asp)
|
|
|
NM_001360016.2(G6PD):c.464A>C (p.His155Pro)
|
|
|
NM_001360016.2(G6PD):c.473G>A (p.Cys158Tyr)
|
|
|
NM_001360016.2(G6PD):c.485+184del
|
|
|
NM_001360016.2(G6PD):c.486-17C>T
|
|
|
NM_001360016.2(G6PD):c.486-17del
|
|
|
NM_001360016.2(G6PD):c.488G>A (p.Gly163Asp)
|
|
|
NM_001360016.2(G6PD):c.496C>T (p.Arg166Cys)
|
|
|
NM_001360016.2(G6PD):c.497G>A (p.Arg166His)
|
|
|
NM_001360016.2(G6PD):c.514C>T (p.Pro172Ser)
|
|
|
NM_001360016.2(G6PD):c.527A>G (p.Asp176Gly)
|
|
|
NM_001360016.2(G6PD):c.573C>G (p.Phe191Leu)
|
|
|
NM_001360016.2(G6PD):c.585G>C (p.Gln195His)
|
|
|
NM_001360016.2(G6PD):c.586A>T (p.Ile196Phe)
|
|
|
NM_001360016.2(G6PD):c.592C>A (p.Arg198Ser)
|
|
|
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
|
|
|
NM_001360016.2(G6PD):c.598G>A (p.Asp200Asn)
|
|
|
NM_001360016.2(G6PD):c.611G>A (p.Gly204Asp)
|
rs2148330566
|
|
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
|
|
|
NM_001360016.2(G6PD):c.655A>G (p.Arg219Gly)
|
|
|
NM_001360016.2(G6PD):c.683ACA[1] (p.Asn229del)
|
|
|
NM_001360016.2(G6PD):c.691G>C (p.Ala231Pro)
|
|
|
NM_001360016.2(G6PD):c.695G>A (p.Cys232Tyr)
|
|
|
NM_001360016.2(G6PD):c.697G>C (p.Val233Leu)
|
|
|
NM_001360016.2(G6PD):c.725_730del (p.Gly242_Thr243del)
|
|
|
NM_001360016.2(G6PD):c.737G>T (p.Arg246Leu)
|
|
|
NM_001360016.2(G6PD):c.739G>A (p.Gly247Arg)
|
|
|
NM_001360016.2(G6PD):c.743G>A (p.Gly248Asp)
|
|
|
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly)
|
rs2070375134
|
|
NM_001360016.2(G6PD):c.770G>T (p.Arg257Leu)
|
|
|
NM_001360016.2(G6PD):c.7G>A (p.Glu3Lys)
|
|
|
NM_001360016.2(G6PD):c.811G>C (p.Val271Leu)
|
|
|
NM_001360016.2(G6PD):c.820G>A (p.Glu274Lys)
|
|
|
NM_001360016.2(G6PD):c.821A>T (p.Glu274Val)
|
|
|
NM_001360016.2(G6PD):c.825G>C (p.Lys275Asn)
|
|
|
NM_001360016.2(G6PD):c.826C>T (p.Pro276Ser)
|
|
|
NM_001360016.2(G6PD):c.832T>C (p.Ser278Pro)
|
|
|
NM_001360016.2(G6PD):c.833C>T (p.Ser278Phe)
|
|
|
NM_001360016.2(G6PD):c.835A>G (p.Thr279Ala)
|
|
|
NM_001360016.2(G6PD):c.835A>T (p.Thr279Ser)
|
rs2148329890
|
|
NM_001360016.2(G6PD):c.844G>T (p.Asp282Tyr)
|
|
|
NM_001360016.2(G6PD):c.851T>C (p.Val284Ala)
|
|
|
NM_001360016.2(G6PD):c.853C>T (p.Arg285Cys)
|
|
|
NM_001360016.2(G6PD):c.864+43G>A
|
|
|
NM_001360016.2(G6PD):c.864+44del
|
|
|
NM_001360016.2(G6PD):c.910G>T (p.Val304Phe)
|
|
|
NM_001360016.2(G6PD):c.920A>C (p.Gln307Pro)
|
|
|
NM_001360016.2(G6PD):c.921G>C (p.Gln307His)
|
|
|
NM_001360016.2(G6PD):c.94C>G (p.His32Asp)
|
|
|
NM_001360016.2(G6PD):c.94C>T (p.His32Tyr)
|
rs2070702973
|
|
NM_001360016.2(G6PD):c.962G>A (p.Gly321Glu)
|
|
|
NM_001360016.2(G6PD):c.995C>T (p.Ser332Phe)
|
|
|
NM_001360016.2(G6PD):c.[1037A>T;637G>T]
|
|
|
NM_001360016.2(G6PD):c.[1048G>C;406C>T]
|
|
|
NM_001360016.2(G6PD):c.[1159C>T;376A>G]
|
|
|
NM_001360016.2(G6PD):c.[1264C>G;202G>A376A>G]
|
|
|
NM_001360016.2(G6PD):c.[1347G>C;1360C>T]
|
|
|
NM_001360016.2(G6PD):c.[1376G>T;1502T>G]
|
|
|
NM_001360016.2(G6PD):c.[143T>C;202G>A]
|
|
|
NM_001360016.2(G6PD):c.[143T>C;563C>T]
|
|
|
NM_001360016.2(G6PD):c.[202G>A;871G>A]
|
|
|
NM_001360016.2(G6PD):c.[375G>T;379G>T383T>C384C>T]
|
|
|
NM_001360016.2(G6PD):c.[376A>G;463C>G]
|
|
|
NM_001360016.2(G6PD):c.[376A>G;680G>T]
|
|
|
NM_001360016.2(G6PD):c.[376A>G;871G>A]
|
|
|
NM_001360016.2(G6PD):c.[769C>A;770G>T]
|
|
|
NM_001365304.2(LOC112694756):c.*1133+2T>C
|
|
|
NM_001365304.2(LOC112694756):c.*1134-2A>G
|
|
|
NM_001367721.1(CASK):c.2317+5G>A
|
rs2147095645
|
|
NM_001374504.1(TMPRSS6):c.1547G>A (p.Cys516Tyr)
|
rs2146057214
|
|
NM_001376013.1(EPB41):c.1175del (p.Lys392fs)
|
rs2150273700
|
|
NM_001376013.1(EPB41):c.1330dup (p.Arg444fs)
|
|
|
NM_001376013.1(EPB41):c.1660C>T (p.Arg554Ter)
|
|
|
NM_001376013.1(EPB41):c.1744dup (p.Thr582fs)
|
rs2150754040
|
|
NM_001376013.1(EPB41):c.2065A>T (p.Lys689Ter)
|
rs2151005632
|
|
NM_001376013.1(EPB41):c.2085_2089del (p.Val696fs)
|
|
|
NM_001376013.1(EPB41):c.712C>T (p.Arg238Ter)
|
rs1160118901
|
|
NM_001376013.1(EPB41):c.768G>A (p.Trp256Ter)
|
|
|
NM_001386140.1(MTTP):c.1067T>G (p.Leu356Ter)
|
rs1725580386
|
|
NM_001386140.1(MTTP):c.1106C>A (p.Ser369Ter)
|
|
|
NM_001386140.1(MTTP):c.1117G>T (p.Glu373Ter)
|
rs1725671165
|
|
NM_001386140.1(MTTP):c.114C>A (p.Tyr38Ter)
|
|
|
NM_001386140.1(MTTP):c.1168del (p.Gln390fs)
|
|
|
NM_001386140.1(MTTP):c.1266_1267del (p.Ser422fs)
|
|
|
NM_001386140.1(MTTP):c.1321C>T (p.Gln441Ter)
|
rs1486643983
|
|
NM_001386140.1(MTTP):c.1327G>T (p.Glu443Ter)
|
rs1725702758
|
|
NM_001386140.1(MTTP):c.1367T>A (p.Leu456Ter)
|
rs1725826321
|
|
NM_001386140.1(MTTP):c.141del (p.Gly49fs)
|
rs1228389182
|
|
NM_001386140.1(MTTP):c.1428_1429insGAAAAATCATA (p.Leu477fs)
|
|
|
NM_001386140.1(MTTP):c.1558-2A>G
|
rs1553927840
|
|
NM_001386140.1(MTTP):c.1573_1574del (p.Asn525fs)
|
|
|
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs)
|
rs2110230146
|
|
NM_001386140.1(MTTP):c.1646del (p.Asn549fs)
|
|
|
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter)
|
rs1725885571
|
|
NM_001386140.1(MTTP):c.1717A>T (p.Lys573Ter)
|
rs1725886004
|
|
NM_001386140.1(MTTP):c.1756G>T (p.Glu586Ter)
|
|
|
NM_001386140.1(MTTP):c.1933A>T (p.Arg645Ter)
|
|
|
NM_001386140.1(MTTP):c.1940del (p.Asn647fs)
|
|
|
NM_001386140.1(MTTP):c.1953_1954del (p.Phe651fs)
|
|
|
NM_001386140.1(MTTP):c.1959C>A (p.Tyr653Ter)
|
rs1725953201
|
|
NM_001386140.1(MTTP):c.1964_1965del (p.Gly655fs)
|
|
|
NM_001386140.1(MTTP):c.2021T>A (p.Leu674Ter)
|
rs1725996321
|
|
NM_001386140.1(MTTP):c.2055delinsAGGCA (p.Asn685fs)
|
|
|
NM_001386140.1(MTTP):c.2097_2098del (p.Gln700fs)
|
|
|
NM_001386140.1(MTTP):c.2113_2114del (p.Thr705fs)
|
|
|
NM_001386140.1(MTTP):c.2125G>T (p.Gly709Ter)
|
rs1726001209
|
|
NM_001386140.1(MTTP):c.2183_2184del (p.Val728fs)
|
|
|
NM_001386140.1(MTTP):c.2228T>A (p.Leu743Ter)
|
|
|
NM_001386140.1(MTTP):c.2260C>T (p.Gln754Ter)
|
rs1726166189
|
|
NM_001386140.1(MTTP):c.2299_2300delinsA (p.Phe767fs)
|
|
|
NM_001386140.1(MTTP):c.22_23insCTGAA (p.Phe8fs)
|
|
|
NM_001386140.1(MTTP):c.2329C>T (p.Arg777Ter)
|
rs777548973
|
|
NM_001386140.1(MTTP):c.275_276del (p.Val92fs)
|
|
|
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter)
|
rs1560614646
|
|
NM_001386140.1(MTTP):c.334G>T (p.Gly112Ter)
|
|
|
NM_001386140.1(MTTP):c.358C>T (p.Gln120Ter)
|
rs1725178752
|
|
NM_001386140.1(MTTP):c.363_369del (p.Arg121fs)
|
|
|
NM_001386140.1(MTTP):c.486_488delinsA (p.Gly163fs)
|
|
|
NM_001386140.1(MTTP):c.502-2A>G
|
rs1725410386
|
|
NM_001386140.1(MTTP):c.546del (p.Asp183fs)
|
|
|
NM_001386140.1(MTTP):c.583A>T (p.Lys195Ter)
|
rs1725413862
|
|
NM_001386140.1(MTTP):c.674_675insATGTAGCTTTTGAA (p.Ser225delinsArgCysSerPheTer)
|
|
|
NM_001386140.1(MTTP):c.696_697del (p.Glu233fs)
|
|
|
NM_001386140.1(MTTP):c.710_711delinsGATGTGTATAAGAGACAG (p.Asn237delinsArgCysValTer)
|
|
|
NM_001386140.1(MTTP):c.734_742delinsAAGA (p.Thr245fs)
|
|
|
NM_001386140.1(MTTP):c.75dup (p.Leu26fs)
|
|
|
NM_001386140.1(MTTP):c.775A>T (p.Lys259Ter)
|
rs1283854712
|
|
NM_001386140.1(MTTP):c.807_813del (p.Gly270fs)
|
|
|
NM_001386140.1(MTTP):c.808G>T (p.Gly270Ter)
|
|
|
NM_001386140.1(MTTP):c.903T>A (p.Cys301Ter)
|
rs1725516307
|
|
NM_001386140.1(MTTP):c.957_963del (p.Asn319fs)
|
|
|
NM_001754.5(RUNX1):c.502G>T (p.Gly168Ter)
|
rs1569078784
|
|
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg)
|
rs587776456
|
|
NM_002049.4(GATA1):c.170_173dup (p.Ala59fs)
|
|
|
NM_002049.4(GATA1):c.220+1G>A
|
rs1569499366
|
|
NM_002049.4(GATA1):c.220+1G>C
|
rs1569499366
|
|
NM_002049.4(GATA1):c.35C>G (p.Ser12Ter)
|
rs2062673416
|
|
NM_002049.4(GATA1):c.652G>A (p.Asp218Asn)
|
rs104894808
|
|
NM_002049.4(GATA1):c.680C>T (p.Ala227Val)
|
rs1602220307
|
|
NM_002250.3(KCNN4):c.844G>A (p.Val282Met)
|
rs1057519076
|
|
NM_002250.3(KCNN4):c.845T>A (p.Val282Glu)
|
rs1057519077
|
|
NM_002454.3(MTRR):c.1146+1G>C
|
rs772608494
|
|
NM_002454.3(MTRR):c.130-1G>A
|
|
|
NM_002454.3(MTRR):c.1327+1G>A
|
|
|
NM_002454.3(MTRR):c.1371-1G>A
|
rs1219605974
|
|
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg)
|
rs137853061
|
|
NM_002454.3(MTRR):c.1676+2T>C
|
|
|
NM_002454.3(MTRR):c.1677-1G>A
|
|
|
NM_002454.3(MTRR):c.1A>G (p.Met1Val)
|
rs1747827267
|
|
NM_002454.3(MTRR):c.283+1G>A
|
|
|
NM_002454.3(MTRR):c.283+1_283+20del
|
rs1748371268
|
|
NM_002454.3(MTRR):c.401+2_401+7del
|
rs2126676051
|
|
NM_002454.3(MTRR):c.402-1G>C
|
|
|
NM_002454.3(MTRR):c.402-1G>T
|
rs1734858651
|
|
NM_002454.3(MTRR):c.402-2A>G
|
rs2126692827
|
|
NM_002454.3(MTRR):c.781-2A>C
|
|
|
NM_002454.3(MTRR):c.781-2A>T
|
|
|
NM_002454.3(MTRR):c.903+1G>A
|
|
|
NM_002454.3(MTRR):c.904-1G>T
|
|
|
NM_002454.3(MTRR):c.904-2A>G
|
|
|
NM_002454.3(MTRR):c.916del (p.Ser306fs)
|
rs1212701617
|
|
NM_002454.3(MTRR):c.973_1146+462del
|
|
|
NM_002485.5(NBN):c.1000A>T (p.Lys334Ter)
|
|
|
NM_002485.5(NBN):c.1029del (p.Gln344fs)
|
|
|
NM_002485.5(NBN):c.1029dup (p.Gln344fs)
|
rs1563539146
|
|
NM_002485.5(NBN):c.1104dup (p.Ser369fs)
|
|
|
NM_002485.5(NBN):c.1106C>G (p.Ser369Ter)
|
rs2129744741
|
|
NM_002485.5(NBN):c.1147G>T (p.Glu383Ter)
|
rs772909239
|
|
NM_002485.5(NBN):c.115del (p.Gln39fs)
|
rs864622511
|
|
NM_002485.5(NBN):c.11_12del (p.Leu4fs)
|
|
|
NM_002485.5(NBN):c.1222A>T (p.Lys408Ter)
|
|
|
NM_002485.5(NBN):c.1225del (p.Thr409fs)
|
rs2129720423
|
|
NM_002485.5(NBN):c.1234_1235del (p.Ser411_Asn412insTer)
|
rs2129720196
|
|
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)
|
rs1238152597
|
|
NM_002485.5(NBN):c.1298del (p.Pro433fs)
|
|
|
NM_002485.5(NBN):c.1327A>T (p.Lys443Ter)
|
rs1554559094
|
|
NM_002485.5(NBN):c.1336del (p.Ala446fs)
|
rs1554559083
|
|
NM_002485.5(NBN):c.1357_1360dup (p.Ser454Ter)
|
|
|
NM_002485.5(NBN):c.1388_1389del (p.Thr463fs)
|
|
|
NM_002485.5(NBN):c.1396dup (p.Arg466fs)
|
rs1349928568
|
|
NM_002485.5(NBN):c.1397+1G>A
|
|
|
NM_002485.5(NBN):c.1397+1dup
|
|
|
NM_002485.5(NBN):c.1397+2T>A
|
rs730881850
|
|
NM_002485.5(NBN):c.1398-1G>A
|
|
|
NM_002485.5(NBN):c.1402dup (p.Arg468fs)
|
|
|
NM_002485.5(NBN):c.141_142del (p.Leu48fs)
|
rs750375741
|
|
NM_002485.5(NBN):c.1483_1484delinsA (p.Pro495fs)
|
rs764884516
|
|
NM_002485.5(NBN):c.1490_1514del (p.Thr497fs)
|
|
|
NM_002485.5(NBN):c.1496C>G (p.Ser499Ter)
|
rs772411713
|
|
NM_002485.5(NBN):c.14_23del (p.Leu5fs)
|
rs2129938178
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.1523dup (p.Ser509fs)
|
rs1586054199
|
|
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs)
|
rs1554558449
|
|
NM_002485.5(NBN):c.1565T>A (p.Leu522Ter)
|
|
|
NM_002485.5(NBN):c.1565_1566insTA (p.Leu522fs)
|
|
|
NM_002485.5(NBN):c.163_171+3del
|
rs1057516772
|
|
NM_002485.5(NBN):c.1648_1651del (p.Lys550fs)
|
rs766044684
|
|
NM_002485.5(NBN):c.1651del (p.Arg551fs)
|
|
|
NM_002485.5(NBN):c.1654dup (p.Glu552fs)
|
rs760237820
|
|
NM_002485.5(NBN):c.171+1G>A
|
rs931715719
|
|
NM_002485.5(NBN):c.172-1del
|
|
|
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)
|
rs864622143
|
|
NM_002485.5(NBN):c.181_182del (p.Thr60_Asp61insTer)
|
rs768378152
|
|
NM_002485.5(NBN):c.1826del (p.Pro609fs)
|
|
|
NM_002485.5(NBN):c.1848del (p.Glu617fs)
|
rs1057516611
|
|
NM_002485.5(NBN):c.1872_1873dup (p.Glu625fs)
|
|
|
NM_002485.5(NBN):c.1882_1885del (p.Glu628fs)
|
rs1178384498
|
|
NM_002485.5(NBN):c.1889C>G (p.Ser630Ter)
|
|
|
NM_002485.5(NBN):c.188del (p.Ile63fs)
|
rs876659592
|
|
NM_002485.5(NBN):c.1958dup (p.Leu654fs)
|
rs780235686
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.2030_2037dup (p.Gly680fs)
|
rs1036111786
|
|
NM_002485.5(NBN):c.2051del (p.Asn684fs)
|
rs1586040200
|
|
NM_002485.5(NBN):c.2071-1G>C
|
rs786201965
|
|
NM_002485.5(NBN):c.2071del
|
rs2130756322
|
|
NM_002485.5(NBN):c.211_212insGA (p.Asn71fs)
|
rs762664474
|
|
NM_002485.5(NBN):c.2161G>T (p.Glu721Ter)
|
rs1064795816
|
|
NM_002485.5(NBN):c.2166G>A (p.Trp722Ter)
|
|
|
NM_002485.5(NBN):c.217A>T (p.Lys73Ter)
|
rs2129915767
|
|
NM_002485.5(NBN):c.2185-1G>A
|
rs1057517262
|
|
NM_002485.5(NBN):c.2238del (p.Arg745_Tyr746insTer)
|
|
|
NM_002485.5(NBN):c.241del (p.Glu81fs)
|
|
|
NM_002485.5(NBN):c.278C>A (p.Ser93Ter)
|
rs12721593
|
|
NM_002485.5(NBN):c.306del (p.Phe102fs)
|
rs587781305
|
|
NM_002485.5(NBN):c.340G>T (p.Val114Phe)
|
rs771034958
|
|
NM_002485.5(NBN):c.359T>G (p.Leu120Ter)
|
rs1563579387
|
|
NM_002485.5(NBN):c.360_363dup (p.Val122fs)
|
|
|
NM_002485.5(NBN):c.37+2dup
|
rs876658183
|
|
NM_002485.5(NBN):c.38-2A>G
|
rs771475965
|
|
NM_002485.5(NBN):c.40G>T (p.Glu14Ter)
|
|
|
NM_002485.5(NBN):c.429G>A (p.Trp143Ter)
|
rs1812023981
|
|
NM_002485.5(NBN):c.445del (p.His149fs)
|
rs1554567892
|
|
NM_002485.5(NBN):c.474del (p.Ile159fs)
|
rs1563578540
|
|
NM_002485.5(NBN):c.480+1G>A
|
|
|
NM_002485.5(NBN):c.4del (p.Trp2fs)
|
rs1275657359
|
|
NM_002485.5(NBN):c.565C>T (p.Gln189Ter)
|
rs1198614767
|
|
NM_002485.5(NBN):c.580G>T (p.Glu194Ter)
|
rs1554566610
|
|
NM_002485.5(NBN):c.584+2T>C
|
rs1586101154
|
|
NM_002485.5(NBN):c.585-1_585delinsC
|
rs786203662
|
|
NM_002485.5(NBN):c.585-2A>G
|
rs772005832
|
|
NM_002485.5(NBN):c.591_603delinsTTG (p.Pro198fs)
|
rs1554564297
|
|
NM_002485.5(NBN):c.702+2T>C
|
rs1811497703
|
|
NM_002485.5(NBN):c.742dup (p.Glu248fs)
|
|
|
NM_002485.5(NBN):c.782del (p.Asn261fs)
|
|
|
NM_002485.5(NBN):c.794dup (p.Pro266fs)
|
|
|
NM_002485.5(NBN):c.808_809del (p.Val270fs)
|
rs786202490
|
|
NM_002485.5(NBN):c.872dup (p.Ser292fs)
|
rs1563559078
|
|
NM_002485.5(NBN):c.896+1G>A
|
rs778306619
|
|
NM_002485.5(NBN):c.896+2T>C
|
rs754659423
|
|
NM_002485.5(NBN):c.900_924del (p.Gly301fs)
|
rs1057519587
|
|
NM_002485.5(NBN):c.93_94del (p.Ala32fs)
|
rs864622253
|
|
NM_002485.5(NBN):c.962del (p.Asn321fs)
|
rs1586075907
|
|
NM_002485.5(NBN):c.966_967del (p.Tyr322_Cys323delinsTer)
|
rs1811144443
|
|
NM_002485.5(NBN):c.994+1G>A
|
rs1554562083
|
|
NM_002485.5(NBN):c.994+1G>T
|
rs1554562083
|
|
NM_002485.5(NBN):c.995-23_998inv
|
|
|
NM_002524.5(NRAS):c.176C>A (p.Ala59Asp)
|
|
|
NM_002641.4(PIGA):c.109A>G (p.Met37Val)
|
rs2147724073
|
|
NM_002641.4(PIGA):c.1139del (p.Ile380fs)
|
|
|
NM_002641.4(PIGA):c.1188+1G>C
|
|
|
NM_002641.4(PIGA):c.1281_1282del (p.Phe428fs)
|
|
|
NM_002641.4(PIGA):c.1355A>T (p.Asp452Val)
|
rs1921817445
|
|
NM_002641.4(PIGA):c.151_187del (p.Ser51fs)
|
|
|
NM_002641.4(PIGA):c.196_206del (p.Lys66fs)
|
|
|
NM_002641.4(PIGA):c.329dup (p.Pro111fs)
|
|
|
NM_002641.4(PIGA):c.368C>T (p.Thr123Met)
|
rs1555945480
|
|
NM_002641.4(PIGA):c.986T>C (p.Val329Ala)
|
rs1921924356
|
|
NM_002875.5(RAD51):c.590C>T (p.Thr197Ile)
|
|
|
NM_002875.5(RAD51):c.772G>A (p.Glu258Lys)
|
rs1555429629
|
|
NM_002875.5(RAD51):c.871ATC[1] (p.Ile292del)
|
|
|
NM_002948.5(RPL15):c.314G>T (p.Arg105Leu)
|
rs1704930969
|
|
NM_003126.4(SPTA1):c.1700T>C (p.Leu567Pro)
|
|
|
NM_003126.4(SPTA1):c.2335_2352delinsGCTCTCA (p.Lys779fs)
|
|
|
NM_003126.4(SPTA1):c.2353C>T (p.Arg785Ter)
|
rs2022057
|
|
NM_003126.4(SPTA1):c.2464+1G>A
|
rs774632615
|
|
NM_003126.4(SPTA1):c.2768A>G (p.Asp923Gly)
|
|
|
NM_003126.4(SPTA1):c.2898G>A (p.Gln966=)
|
rs1553232007
|
|
NM_003126.4(SPTA1):c.4177C>T (p.Gln1393Ter)
|
rs1571436535
|
|
NM_003126.4(SPTA1):c.4519C>T (p.Arg1507Ter)
|
rs1651716612
|
|
NM_003126.4(SPTA1):c.4823G>A (p.Arg1608His)
|
|
|
NM_003126.4(SPTA1):c.5263C>G (p.His1755Asp)
|
rs377659326
|
|
NM_003126.4(SPTA1):c.5269C>T (p.Arg1757Cys)
|
|
|
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
|
rs41273519
|
|
NM_003126.4(SPTA1):c.6549-12G>A
|
rs857716
|
|
NM_003126.4(SPTA1):c.6600+5G>T
|
rs1462060431
|
|
NM_003126.4(SPTA1):c.83G>A (p.Arg28His)
|
rs121918641
|
|
NM_003647.3(DGKE):c.942C>G (p.Asn314Lys)
|
rs749415630
|
|
NM_003745.2(SOCS1):c.24del (p.Ala9fs)
|
rs2069587477
|
|
NM_003745.2(SOCS1):c.476_480dup (p.Met161fs)
|
rs1470306246
|
|
NM_004054.4(C3AR1):c.355_356dup (p.Asp119fs)
|
rs869312973
|
|
NM_004629.2(FANCG):c.1001_1010del (p.Leu334fs)
|
|
|
NM_004629.2(FANCG):c.1027C>T (p.Gln343Ter)
|
rs1829085768
|
|
NM_004629.2(FANCG):c.10C>T (p.Gln4Ter)
|
rs1326382443
|
|
NM_004629.2(FANCG):c.1144-1G>A
|
|
|
NM_004629.2(FANCG):c.1158dup (p.Ser387fs)
|
rs757418016
|
|
NM_004629.2(FANCG):c.115C>T (p.Arg39Ter)
|
rs1384748892
|
|
NM_004629.2(FANCG):c.121C>T (p.Gln41Ter)
|
|
|
NM_004629.2(FANCG):c.1252G>T (p.Glu418Ter)
|
rs886063896
|
|
NM_004629.2(FANCG):c.125T>A (p.Leu42Ter)
|
|
|
NM_004629.2(FANCG):c.1341C>G (p.Tyr447Ter)
|
|
|
NM_004629.2(FANCG):c.1359del (p.Ala454fs)
|
rs1829066243
|
|
NM_004629.2(FANCG):c.1375C>T (p.Gln459Ter)
|
rs2131053817
|
|
NM_004629.2(FANCG):c.1379G>A (p.Gly460Asp)
|
|
|
NM_004629.2(FANCG):c.1433+1G>A
|
rs1829065047
|
|
NM_004629.2(FANCG):c.1434-1G>C
|
|
|
NM_004629.2(FANCG):c.1434-2A>C
|
rs1829062071
|
|
NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs)
|
|
|
NM_004629.2(FANCG):c.1480+1G>A
|
|
|
NM_004629.2(FANCG):c.1481-1G>C
|
rs2131053141
|
|
NM_004629.2(FANCG):c.1483del
|
rs760738460
|
|
NM_004629.2(FANCG):c.1528C>T (p.Gln510Ter)
|
rs1829056657
|
|
NM_004629.2(FANCG):c.1573del (p.Trp524_Val525insTer)
|
rs753485145
|
|
NM_004629.2(FANCG):c.1636+1G>C
|
|
|
NM_004629.2(FANCG):c.1636+1_1636+5delinsA
|
rs1829054259
|
|
NM_004629.2(FANCG):c.1637-1G>A
|
|
|
NM_004629.2(FANCG):c.1637-2A>G
|
|
|
NM_004629.2(FANCG):c.1637-2_1637-1insCTG
|
rs2131051989
|
|
NM_004629.2(FANCG):c.1652_1655del (p.Tyr551fs)
|
rs770263417
|
|
NM_004629.2(FANCG):c.1715G>A (p.Trp572Ter)
|
rs1829041127
|
|
NM_004629.2(FANCG):c.1747G>T (p.Glu583Ter)
|
rs786204205
|
|
NM_004629.2(FANCG):c.176-1G>A
|
rs2131059176
|
|
NM_004629.2(FANCG):c.176-6_190del
|
|
|
NM_004629.2(FANCG):c.1771dup (p.Leu591fs)
|
rs746392434
|
|
NM_004629.2(FANCG):c.1772del (p.Leu591fs)
|
|
|
NM_004629.2(FANCG):c.212T>C (p.Leu71Pro)
|
rs1829130135
|
|
NM_004629.2(FANCG):c.256C>T (p.Gln86Ter)
|
rs1829129603
|
|
NM_004629.2(FANCG):c.272del (p.Asp91fs)
|
|
|
NM_004629.2(FANCG):c.306_307del (p.Arg102fs)
|
|
|
NM_004629.2(FANCG):c.307+1G>A
|
|
|
NM_004629.2(FANCG):c.308-1G>A
|
|
|
NM_004629.2(FANCG):c.347_348del (p.Gln116fs)
|
|
|
NM_004629.2(FANCG):c.366G>A (p.Trp122Ter)
|
|
|
NM_004629.2(FANCG):c.508C>T (p.Gln170Ter)
|
|
|
NM_004629.2(FANCG):c.510+1G>A
|
|
|
NM_004629.2(FANCG):c.511-3_511-2del
|
rs1491369358
|
|
NM_004629.2(FANCG):c.552_585del (p.Thr183_Trp184insTer)
|
|
|
NM_004629.2(FANCG):c.552dup (p.Ser185fs)
|
rs1412207017
|
|
NM_004629.2(FANCG):c.592C>T (p.Gln198Ter)
|
|
|
NM_004629.2(FANCG):c.619del (p.Leu207fs)
|
|
|
NM_004629.2(FANCG):c.646+1G>T
|
rs1028569753
|
|
NM_004629.2(FANCG):c.647-2_649del
|
rs2131056701
|
|
NM_004629.2(FANCG):c.682del (p.Ala228fs)
|
|
|
NM_004629.2(FANCG):c.694_695del (p.Leu232fs)
|
|
|
NM_004629.2(FANCG):c.713dup (p.Leu239fs)
|
rs2131056549
|
|
NM_004629.2(FANCG):c.721_733del (p.Pro241fs)
|
|
|
NM_004629.2(FANCG):c.722_734del (p.Pro241fs)
|
|
|
NM_004629.2(FANCG):c.739C>T (p.Gln247Ter)
|
|
|
NM_004629.2(FANCG):c.777+1G>A
|
rs1060501862
|
|
NM_004629.2(FANCG):c.778-1G>A
|
rs767518932
|
|
NM_004629.2(FANCG):c.778-1G>C
|
rs767518932
|
|
NM_004629.2(FANCG):c.797dup (p.Leu267fs)
|
|
|
NM_004629.2(FANCG):c.7_10dup (p.Gln4fs)
|
|
|
NM_004629.2(FANCG):c.84+1G>A
|
|
|
NM_004629.2(FANCG):c.842del (p.Pro281fs)
|
rs2131055994
|
|
NM_004629.2(FANCG):c.85-1G>A
|
rs1052044702
|
|
NM_004629.2(FANCG):c.907_908dup (p.Glu304fs)
|
|
|
NM_004629.2(FANCG):c.907del (p.Leu303fs)
|
|
|
NM_004629.2(FANCG):c.908T>C (p.Leu303Pro)
|
rs1563986439
|
|
NM_004629.2(FANCG):c.924+1G>A
|
rs1829091761
|
|
NM_004629.2(FANCG):c.925-1G>C
|
|
|
NM_004629.2(FANCG):c.925-1G>T
|
|
|
NM_004629.2(FANCG):c.930dup (p.Asn311fs)
|
|
|
NM_004629.2(FANCG):c.941del (p.Cys314fs)
|
|
|
NM_004629.2(FANCG):c.99_103del (p.Gly34fs)
|
|
|
NM_005050.4(ABCD4):c.1118+1G>A
|
|
|
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln)
|
rs745414252
|
|
NM_005050.4(ABCD4):c.1457-1G>C
|
|
|
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
|
rs767795583
|
|
NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)
|
|
|
NM_005050.4(ABCD4):c.301del (p.Gln101fs)
|
|
|
NM_005050.4(ABCD4):c.719+2T>G
|
rs2082518811
|
|
NM_005142.3(CBLIF):c.370+1G>C
|
|
|
NM_005142.3(CBLIF):c.370+83_426del
|
|
|
NM_005142.3(CBLIF):c.661G>A (p.Gly221Arg)
|
rs1590859406
|
|
NM_005236.3(ERCC4):c.2065C>A (p.Arg689Ser)
|
rs149364215
|
|
NM_005236.3(ERCC4):c.580_584+1del
|
rs776329282
|
|
NM_005236.3(ERCC4):c.616C>T (p.Gln206Ter)
|
rs2141946068
|
|
NM_005373.3(MPL):c.1514G>A (p.Ser505Asn)
|
rs121913614
|
|
NM_005373.3(MPL):c.317C>T (p.Pro106Leu)
|
rs750046020
|
|
NM_005431.2(XRCC2):c.350dup (p.Leu117fs)
|
rs764640893
|
|
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs)
|
rs763401560
|
|
NM_005689.4(ABCB6):c.1123C>T (p.Arg375Trp)
|
rs764893806
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006363.6(SEC23B):c.1079del (p.Leu360fs)
|
rs1600244935
|
|
NM_006363.6(SEC23B):c.1109+1G>C
|
|
|
NM_006363.6(SEC23B):c.113del (p.Leu38fs)
|
|
|
NM_006363.6(SEC23B):c.1233_1233+1dup
|
|
|
NM_006363.6(SEC23B):c.1314+1G>A
|
|
|
NM_006363.6(SEC23B):c.1314_1314+10del
|
|
|
NM_006363.6(SEC23B):c.1404+5G>A
|
rs1555789463
|
|
NM_006363.6(SEC23B):c.1511+2_1511+5del
|
|
|
NM_006363.6(SEC23B):c.1589G>A (p.Arg530Gln)
|
|
|
NM_006363.6(SEC23B):c.1905+1G>A
|
|
|
NM_006363.6(SEC23B):c.221+1G>A
|
|
|
NM_006363.6(SEC23B):c.221G>A (p.Cys74Tyr)
|
|
|
NM_006363.6(SEC23B):c.2237C>A (p.Thr746Asn)
|
rs1600288964
|
|
NM_006363.6(SEC23B):c.2262del (p.Phe754fs)
|
|
|
NM_006363.6(SEC23B):c.279+1G>A
|
|
|
NM_006363.6(SEC23B):c.366+1G>A
|
|
|
NM_006363.6(SEC23B):c.367-1G>T
|
|
|
NM_006363.6(SEC23B):c.716A>G (p.Asp239Gly)
|
rs761034212
|
|
NM_006363.6(SEC23B):c.937C>T (p.Arg313Cys)
|
|
|
NM_006516.4(SLC2A1):c.1372C>T (p.Arg458Trp)
|
rs13306758
|
|
NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)
|
rs80359818
|
|
NM_006563.5(KLF1):c.649C>T (p.Gln217Ter)
|
rs2145927881
|
|
NM_006563.5(KLF1):c.913+1G>A
|
rs483352840
|
|
NM_006996.3(SLC19A2):c.314G>A (p.Gly105Glu)
|
|
|
NM_006996.3(SLC19A2):c.807+2T>G
|
rs1234256852
|
|
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)
|
rs80357276
|
|
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)
|
rs864622444
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.594_597delTGTG
|
rs797045175
|
|
NM_015506.2(MMACHC):c.[271dupA];[482G>A]
|
|
|
NM_015506.3(MMACHC):c.143_146del (p.Leu48fs)
|
|
|
NM_015506.3(MMACHC):c.158T>C (p.Leu53Pro)
|
rs756980496
|
|
NM_015506.3(MMACHC):c.178dup (p.Asp60fs)
|
rs1570829757
|
|
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro)
|
rs201777449
|
|
NM_015506.3(MMACHC):c.189_196dup (p.Phe66fs)
|
|
|
NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter)
|
rs1570829862
|
|
NM_015506.3(MMACHC):c.275_278del (p.Glu92fs)
|
rs1553162788
|
|
NM_015506.3(MMACHC):c.276+2T>C
|
|
|
NM_015506.3(MMACHC):c.276+2del
|
|
|
NM_015506.3(MMACHC):c.276G>A (p.Glu92=)
|
rs556977618
|
|
NM_015506.3(MMACHC):c.277-1G>A
|
|
|
NM_015506.3(MMACHC):c.277-2A>G
|
rs202000595
|
|
NM_015506.3(MMACHC):c.285dup (p.Glu96fs)
|
rs1553162821
|
|
NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)
|
rs574983400
|
|
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs)
|
rs1311416761
|
|
NM_015506.3(MMACHC):c.346C>A (p.Leu116Met)
|
rs2149323564
|
|
NM_015506.3(MMACHC):c.346C>G (p.Leu116Val)
|
rs2149323564
|
|
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro)
|
rs121918240
|
|
NM_015506.3(MMACHC):c.366T>A (p.His122Gln)
|
rs1643666556
|
|
NM_015506.3(MMACHC):c.366T>G (p.His122Gln)
|
rs1643666556
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.391C>T (p.Gln131Ter)
|
rs1553162857
|
|
NM_015506.3(MMACHC):c.415_416delinsTA (p.Pro139Ter)
|
rs1643667928
|
|
NM_015506.3(MMACHC):c.427C>T (p.Gln143Ter)
|
rs1553162868
|
|
NM_015506.3(MMACHC):c.435_436del (p.Ser146fs)
|
rs2149323799
|
|
NM_015506.3(MMACHC):c.439G>C (p.Gly147Arg)
|
|
|
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)
|
rs140522266
|
|
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs)
|
rs2149323805
|
|
NM_015506.3(MMACHC):c.451_461del (p.His151fs)
|
|
|
NM_015506.3(MMACHC):c.452A>G (p.His151Arg)
|
|
|
NM_015506.3(MMACHC):c.463G>C (p.Gly155Arg)
|
|
|
NM_015506.3(MMACHC):c.466G>A (p.Gly156Ser)
|
rs768353633
|
|
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp)
|
rs1553162910
|
|
NM_015506.3(MMACHC):c.471G>A (p.Trp157Ter)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.471G>C (p.Trp157Cys)
|
rs1002571805
|
|
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly)
|
rs370596113
|
|
NM_015506.3(MMACHC):c.482G>T (p.Arg161Leu)
|
|
|
NM_015506.3(MMACHC):c.487del (p.Gly162_Val163insTer)
|
|
|
NM_015506.3(MMACHC):c.497dup (p.Pro167fs)
|
rs1481893137
|
|
NM_015506.3(MMACHC):c.506_507del (p.Ile169fs)
|
rs2149323855
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
NM_015506.3(MMACHC):c.51T>A (p.Cys17Ter)
|
|
|
NM_015506.3(MMACHC):c.51del (p.Pro18fs)
|
|
|
NM_015506.3(MMACHC):c.541_548del (p.Asp181fs)
|
rs1553162931
|
|
NM_015506.3(MMACHC):c.542_545dup (p.Cys182Ter)
|
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.565C>T (p.Arg189Cys)
|
rs200895671
|
|
NM_015506.3(MMACHC):c.565del (p.Arg189fs)
|
rs1257204721
|
|
NM_015506.3(MMACHC):c.566G>T (p.Arg189Leu)
|
|
|
NM_015506.3(MMACHC):c.574del (p.Leu192fs)
|
rs1553162943
|
|
NM_015506.3(MMACHC):c.600del (p.Trp200fs)
|
|
|
NM_015506.3(MMACHC):c.616del (p.Arg206fs)
|
rs1163462384
|
|
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro)
|
rs371753672
|
|
NM_015506.3(MMACHC):c.619dup (p.Asp207fs)
|
rs765913293
|
|
NM_015506.3(MMACHC):c.624del (p.Ala208_Val209insTer)
|
|
|
NM_015506.3(MMACHC):c.626_627del (p.Val209fs)
|
rs1356587420
|
|
NM_015506.3(MMACHC):c.675_679del (p.Pro226fs)
|
|
|
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
|
|
|
NM_015506.3(MMACHC):c.70del (p.Tyr24fs)
|
|
|
NM_015506.3(MMACHC):c.72C>A (p.Tyr24Ter)
|
rs755881820
|
|
NM_015506.3(MMACHC):c.792_818del (p.Ser264_Pro272del)
|
rs753855245
|
|
NM_015506.3(MMACHC):c.81+1G>C
|
|
|
NM_015506.3(MMACHC):c.81+2T>G
|
rs777251123
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter)
|
rs1570829502
|
|
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)
|
rs771673343
|
|
NM_015506.3(MMACHC):c.97G>T (p.Glu33Ter)
|
|
|
NM_015506.3:c.275_278del
|
|
|
NM_015702.3(MMADHC):c.10-1G>A
|
|
|
NM_015702.3(MMADHC):c.10-2A>G
|
|
|
NM_015702.3(MMADHC):c.128_129del (p.His43fs)
|
rs1162948308
|
|
NM_015702.3(MMADHC):c.154+1G>C
|
rs1385597423
|
|
NM_015702.3(MMADHC):c.155-2A>G
|
|
|
NM_015702.3(MMADHC):c.202del (p.Gln68fs)
|
|
|
NM_015702.3(MMADHC):c.372+1G>T
|
rs755561981
|
|
NM_015702.3(MMADHC):c.373-1G>A
|
rs764179800
|
|
NM_015702.3(MMADHC):c.373-2A>G
|
|
|
NM_015702.3(MMADHC):c.478+1G>C
|
|
|
NM_015702.3(MMADHC):c.479-2A>G
|
|
|
NM_015702.3(MMADHC):c.563_566del (p.Val188fs)
|
|
|
NM_015702.3(MMADHC):c.567_571del (p.Trp189_Glu191delinsTer)
|
|
|
NM_015702.3(MMADHC):c.610-1G>A
|
|
|
NM_015702.3(MMADHC):c.663G>A (p.Trp221Ter)
|
rs2105042238
|
|
NM_015702.3(MMADHC):c.664del (p.Ala222fs)
|
|
|
NM_015702.3(MMADHC):c.702dup (p.Gly235fs)
|
rs1682617973
|
|
NM_015702.3(MMADHC):c.728_729del (p.Leu242_Phe243insTer)
|
|
|
NM_015702.3(MMADHC):c.737A>G (p.Asp246Gly)
|
rs1408840913
|
|
NM_015702.3(MMADHC):c.739G>T (p.Glu247Ter)
|
|
|
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)
|
rs118204048
|
|
NM_015702.3(MMADHC):c.755T>G (p.Leu252Ter)
|
|
|
NM_015702.3(MMADHC):c.9+1G>A
|
|
|
NM_016038.4(SBDS):c.101A>T (p.Asn34Ile)
|
|
|
NM_016038.4(SBDS):c.115dup (p.Trp39fs)
|
|
|
NM_016038.4(SBDS):c.128+1G>A
|
|
|
NM_016038.4(SBDS):c.129-2A>C
|
|
|
NM_016038.4(SBDS):c.129-71_140del
|
|
|
NM_016038.4(SBDS):c.259-2A>C
|
|
|
NM_016038.4(SBDS):c.428C>T (p.Ser143Leu)
|
|
|
NM_016038.4(SBDS):c.452_453dup (p.Gln152fs)
|
rs1411636529
|
|
NM_016038.4(SBDS):c.523del (p.Arg175fs)
|
|
|
NM_016038.4(SBDS):c.624+1G>A
|
|
|
NM_016038.4(SBDS):c.653G>A (p.Arg218Gln)
|
rs757497272
|
|
NM_016038.4(SBDS):c.95A>G (p.Tyr32Cys)
|
rs1131691842
|
|
NM_016038.4(SBDS):c.98A>C (p.Lys33Thr)
|
rs373730800
|
|
NM_016123.4(IRAK4):c.161+1G>A
|
|
|
NM_017875.4(SLC25A38):c.560G>C (p.Arg187Pro)
|
rs121918331
|
|
NM_017875.4(SLC25A38):c.625G>C (p.Asp209His)
|
rs146864395
|
|
NM_017875.4(SLC25A38):c.671_672insT (p.Ile225fs)
|
rs1575247302
|
|
NM_017875.4(SLC25A38):c.793-1G>C
|
|
|
NM_018062.4(FANCL):c.1007del (p.Ile336fs)
|
|
|
NM_018062.4(FANCL):c.1021-2A>G
|
|
|
NM_018062.4(FANCL):c.1023_1031del (p.Trp341_Gly344delinsTer)
|
|
|
NM_018062.4(FANCL):c.1029dup (p.Gly344fs)
|
|
|
NM_018062.4(FANCL):c.1039_1042dup (p.Ser348delinsAsnTer)
|
|
|
NM_018062.4(FANCL):c.1048C>T (p.Gln350Ter)
|
|
|
NM_018062.4(FANCL):c.1048_1051del (p.Gln350fs)
|
rs1553433429
|
|
NM_018062.4(FANCL):c.1049dup (p.Ser351fs)
|
|
|
NM_018062.4(FANCL):c.1051_1052del (p.Ser351fs)
|
rs750871999
|
|
NM_018062.4(FANCL):c.1072G>T (p.Glu358Ter)
|
|
|
NM_018062.4(FANCL):c.1092+1G>C
|
|
|
NM_018062.4(FANCL):c.1092+1_1092+5del
|
rs1558727300
|
|
NM_018062.4(FANCL):c.158T>G (p.Leu53Ter)
|
|
|
NM_018062.4(FANCL):c.1A>G (p.Met1Val)
|
rs772037896
|
|
NM_018062.4(FANCL):c.1_22dup (p.Leu8fs)
|
|
|
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)
|
rs1490932431
|
|
NM_018062.4(FANCL):c.217-2A>G
|
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
NM_018062.4(FANCL):c.273+1G>A
|
rs144729980
|
|
NM_018062.4(FANCL):c.28del (p.Arg10fs)
|
|
|
NM_018062.4(FANCL):c.335C>G (p.Ser112Ter)
|
|
|
NM_018062.4(FANCL):c.375-2033C>G
|
rs1690571577
|
|
NM_018062.4(FANCL):c.40del (p.Leu14fs)
|
rs761039364
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
NM_018062.4(FANCL):c.471+1G>A
|
|
|
NM_018062.4(FANCL):c.471+2T>C
|
|
|
NM_018062.4(FANCL):c.541-2A>C
|
|
|
NM_018062.4(FANCL):c.590del (p.Leu197fs)
|
|
|
NM_018062.4(FANCL):c.636G>A (p.Trp212Ter)
|
|
|
NM_018062.4(FANCL):c.64A>T (p.Lys22Ter)
|
|
|
NM_018062.4(FANCL):c.691+2_691+5del
|
|
|
NM_018062.4(FANCL):c.70del (p.Val24fs)
|
|
|
NM_018062.4(FANCL):c.716_728del (p.Glu239fs)
|
|
|
NM_018062.4(FANCL):c.738dup (p.Met247fs)
|
|
|
NM_018062.4(FANCL):c.739dup (p.Met247fs)
|
rs1573518300
|
|
NM_018062.4(FANCL):c.759_762del (p.Phe253fs)
|
rs1553435610
|
|
NM_018062.4(FANCL):c.775+2T>C
|
|
|
NM_018062.4(FANCL):c.821+1G>A
|
|
|
NM_018062.4(FANCL):c.822G>A (p.Trp274Ter)
|
|
|
NM_018062.4(FANCL):c.89C>A (p.Ser30Ter)
|
|
|
NM_018062.4(FANCL):c.903+1G>T
|
|
|
NM_018062.4(FANCL):c.903+1_903+2del
|
|
|
NM_018062.4(FANCL):c.903+1del
|
|
|
NM_018062.4(FANCL):c.904-1G>A
|
rs2104783888
|
|
NM_018062.4(FANCL):c.932dup (p.Tyr311Ter)
|
rs529201454
|
|
NM_018062.4(FANCL):c.96+2T>A
|
|
|
NM_018062.4(FANCL):c.96+2T>C
|
|
|
NM_018062.4(FANCL):c.964C>T (p.Gln322Ter)
|
|
|
NM_018368.4(LMBRD1):c.1084-1G>A
|
|
|
NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)
|
|
|
NM_018368.4(LMBRD1):c.1187_1188+2del
|
|
|
NM_018368.4(LMBRD1):c.1189-1G>A
|
rs2149843526
|
|
NM_018368.4(LMBRD1):c.1338+1G>C
|
|
|
NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs)
|
rs764930914
|
|
NM_018368.4(LMBRD1):c.307+2del
|
|
|
NM_018368.4(LMBRD1):c.308-1G>A
|
|
|
NM_018368.4(LMBRD1):c.399del (p.Lys133fs)
|
rs1562112648
|
|
NM_018368.4(LMBRD1):c.405+2T>C
|
|
|
NM_018368.4(LMBRD1):c.562+1G>C
|
|
|
NM_018368.4(LMBRD1):c.562+1G>T
|
|
|
NM_018368.4(LMBRD1):c.69+1G>A
|
|
|
NM_018368.4(LMBRD1):c.69+2T>G
|
|
|
NM_018368.4(LMBRD1):c.762+1G>A
|
|
|
NM_018368.4(LMBRD1):c.763-2A>C
|
|
|
NM_018368.4(LMBRD1):c.763-2A>G
|
|
|
NM_018368.4(LMBRD1):c.763-6_771del
|
|
|
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)
|
rs771477094
|
|
NM_020207.7(ERCC6L2):c.1682_1683del (p.Glu561fs)
|
rs2132792543
|
|
NM_020207.7(ERCC6L2):c.1948-1G>A
|
|
|
NM_020207.7(ERCC6L2):c.3492+2T>G
|
rs1588013817
|
|
NM_020207.7:c.[3409_3410delAT];[3763C>T]
|
|
|
NM_020457.3(THAP11):c.240C>G (p.Phe80Leu)
|
rs188675529
|
|
NM_020937.4(FANCM):c.1051-2A>T
|
rs1886997142
|
|
NM_020937.4(FANCM):c.1397-1_1407del
|
|
|
NM_020937.4(FANCM):c.1581+1G>A
|
rs373430198
|
|
NM_020937.4(FANCM):c.2316+2T>A
|
rs2139235421
|
|
NM_020937.4(FANCM):c.4318-2A>G
|
|
|
NM_020937.4(FANCM):c.4386+1G>A
|
rs1889085249
|
|
NM_020937.4(FANCM):c.4673-1G>A
|
|
|
NM_020937.4(FANCM):c.4673-2A>C
|
rs2139291763
|
|
NM_020937.4(FANCM):c.4780-2A>G
|
rs1889569618
|
|
NM_020937.4(FANCM):c.5340+2T>C
|
|
|
NM_020937.4(FANCM):c.682-2A>G
|
rs1885847871
|
|
NM_020937.4(FANCM):c.759+2T>C
|
rs902753970
|
|
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)
|
|
|
NM_021922.3(FANCE):c.1096del (p.Ser366fs)
|
rs1272613429
|
|
NM_021922.3(FANCE):c.1113+1G>A
|
rs2150895088
|
|
NM_021922.3(FANCE):c.1113+2T>A
|
|
|
NM_021922.3(FANCE):c.117_136del (p.Arg41fs)
|
|
|
NM_021922.3(FANCE):c.118del (p.Ala40fs)
|
|
|
NM_021922.3(FANCE):c.1237+1G>A
|
|
|
NM_021922.3(FANCE):c.1238-2A>C
|
|
|
NM_021922.3(FANCE):c.1239dup (p.Pro414fs)
|
rs1561792535
|
|
NM_021922.3(FANCE):c.1253_1254del (p.Glu418fs)
|
|
|
NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)
|
|
|
NM_021922.3(FANCE):c.1317-1G>A
|
|
|
NM_021922.3(FANCE):c.1383+2T>C
|
|
|
NM_021922.3(FANCE):c.1436_1437del (p.Lys479fs)
|
|
|
NM_021922.3(FANCE):c.248+1G>A
|
rs1480350743
|
|
NM_021922.3(FANCE):c.248+1G>T
|
|
|
NM_021922.3(FANCE):c.248+2T>C
|
rs1581696699
|
|
NM_021922.3(FANCE):c.24_33del (p.Pro9fs)
|
|
|
NM_021922.3(FANCE):c.2T>C (p.Met1Thr)
|
rs1462766132
|
|
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del)
|
rs755938406
|
|
NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG
|
rs2150889955
|
|
NM_021922.3(FANCE):c.350_351del (p.Val117fs)
|
|
|
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)
|
rs121434506
|
|
NM_021922.3(FANCE):c.505del (p.Arg169fs)
|
|
|
NM_021922.3(FANCE):c.524del (p.Gly175fs)
|
rs773363446
|
|
NM_021922.3(FANCE):c.524dup (p.Arg176fs)
|
rs773363446
|
|
NM_021922.3(FANCE):c.538del (p.Ser180fs)
|
|
|
NM_021922.3(FANCE):c.635del (p.Glu212fs)
|
|
|
NM_021922.3(FANCE):c.836del (p.Glu279fs)
|
|
|
NM_021922.3(FANCE):c.880delinsTT (p.Leu294fs)
|
|
|
NM_021922.3(FANCE):c.929del (p.Pro310fs)
|
rs587778337
|
|
NM_021922.3(FANCE):c.929dup (p.Val311fs)
|
rs587778337
|
|
NM_021922.3(FANCE):c.969+1G>A
|
|
|
NM_022725.4(FANCF):c.133_136del (p.His45fs)
|
|
|
NM_022725.4(FANCF):c.167del (p.Thr56fs)
|
|
|
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)
|
rs753272712
|
|
NM_022725.4(FANCF):c.1A>C (p.Met1Leu)
|
rs1046564488
|
|
NM_022725.4(FANCF):c.1A>T (p.Met1Leu)
|
rs1046564488
|
|
NM_022725.4(FANCF):c.202C>T (p.Gln68Ter)
|
|
|
NM_022725.4(FANCF):c.267_268del (p.Cys89_Asp90delinsTer)
|
|
|
NM_022725.4(FANCF):c.388dup (p.Gln130fs)
|
|
|
NM_022725.4(FANCF):c.434del (p.Met145fs)
|
|
|
NM_022725.4(FANCF):c.530_537del (p.Val177fs)
|
|
|
NM_022725.4(FANCF):c.658G>T (p.Glu220Ter)
|
|
|
NM_022725.4(FANCF):c.736del (p.Glu246fs)
|
|
|
NM_022725.4(FANCF):c.792dup (p.Ser265Ter)
|
|
|
NM_022725.4(FANCF):c.817_820del (p.Val273fs)
|
rs1858619779
|
|
NM_022725.4(FANCF):c.84del (p.Ala29fs)
|
rs1275961745
|
|
NM_022725.4(FANCF):c.898C>T (p.Gln300Ter)
|
|
|
NM_022725.4(FANCF):c.943dup (p.Cys315fs)
|
rs1590540654
|
|
NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter)
|
rs1833331932
|
|
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs)
|
rs1555460334
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2832del (p.Arg945fs)
|
rs1060499823
|
|
NM_024675.4(PALB2):c.2835-2A>G
|
|
|
NM_024675.4(PALB2):c.2878del (p.Leu960fs)
|
rs1064795824
|
|
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs)
|
rs786203488
|
|
NM_025215.6(PUS1):c.107_122del (p.Pro36fs)
|
|
|
NM_025215.6(PUS1):c.1237-2A>G
|
|
|
NM_025215.6(PUS1):c.130dup (p.Gln44fs)
|
|
|
NM_025215.6(PUS1):c.178del (p.Glu60fs)
|
|
|
NM_025215.6(PUS1):c.418C>T (p.Gln140Ter)
|
|
|
NM_025215.6(PUS1):c.442-1G>T
|
|
|
NM_025215.6(PUS1):c.454dup (p.Ala152fs)
|
rs1555268564
|
|
NM_025215.6(PUS1):c.517del (p.His173fs)
|
|
|
NM_025215.6(PUS1):c.545-1G>A
|
|
|
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
|
|
|
NM_025215.6(PUS1):c.813del (p.Phe272fs)
|
rs1566148136
|
|
NM_025215.6(PUS1):c.877C>T (p.Gln293Ter)
|
|
|
NM_025215.6(PUS1):c.884G>A (p.Arg295Gln)
|
|
|
NM_025215.6(PUS1):c.893_896del (p.Val298fs)
|
|
|
NM_025215.6(PUS1):c.916A>T (p.Lys306Ter)
|
|
|
NM_025215.6(PUS1):c.929del (p.Pro310fs)
|
|
|
NM_030943.4(AMN):c.1006+16_1006+30del
|
rs386834160
|
|
NM_030943.4(AMN):c.1006+34_1007-31del
|
rs386834161
|
|
NM_030943.4(AMN):c.1006+36_1007-29del
|
rs386834162
|
|
NM_030943.4(AMN):c.1014_1021del (p.Leu339fs)
|
rs386834163
|
|
NM_030943.4(AMN):c.1169+2T>C
|
|
|
NM_030943.4(AMN):c.1170-1G>C
|
|
|
NM_030943.4(AMN):c.1253dup (p.Leu419fs)
|
rs386834165
|
|
NM_030943.4(AMN):c.1314_1315del (p.His438fs)
|
rs386834167
|
|
NM_030943.4(AMN):c.138_162+20del
|
|
|
NM_030943.4(AMN):c.14del (p.Gly5fs)
|
rs386834168
|
|
NM_030943.4(AMN):c.207+1G>A
|
|
|
NM_030943.4(AMN):c.208-1G>C
|
rs386834169
|
|
NM_030943.4(AMN):c.295+1del
|
rs386834171
|
|
NM_030943.4(AMN):c.296-1G>A
|
|
|
NM_030943.4(AMN):c.43+1G>T
|
rs386834172
|
|
NM_030943.4(AMN):c.44-1G>A
|
|
|
NM_030943.4(AMN):c.44-2A>T
|
|
|
NM_030943.4(AMN):c.468dup (p.Gly157fs)
|
rs386834173
|
|
NM_030943.4(AMN):c.513+2T>C
|
|
|
NM_030943.4(AMN):c.513+2del
|
|
|
NM_030943.4(AMN):c.514-34G>A
|
rs144077391
|
|
NM_030943.4(AMN):c.651+1G>T
|
|
|
NM_030943.4(AMN):c.652-2A>G
|
|
|
NM_030943.4(AMN):c.663G>A (p.Trp221Ter)
|
rs386834174
|
|
NM_030943.4(AMN):c.683_730del (p.Gln228_Leu243del)
|
rs386834175
|
|
NM_030943.4(AMN):c.701G>T (p.Cys234Phe)
|
rs386834176
|
|
NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
|
NM_030943.4(AMN):c.760+1G>A
|
rs1555381485
|
|
NM_030943.4(AMN):c.761G>A (p.Gly254Glu)
|
rs386834178
|
|
NM_030943.4(AMN):c.974_977dup (p.Ala327fs)
|
rs386834179
|
|
NM_032043.2(BRIP1):c.2493-?_2575+?dup
|
|
|
NM_032043.2(BRIP1):c.919-?_1140+?del
|
|
|
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)
|
rs1028347439
|
|
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)
|
rs587780224
|
|
NM_032043.3(BRIP1):c.1140+1G>A
|
rs1555607628
|
|
NM_032043.3(BRIP1):c.1141-2A>C
|
|
|
NM_032043.3(BRIP1):c.1141-2A>T
|
rs769583916
|
|
NM_032043.3(BRIP1):c.1340+1G>A
|
rs1555607022
|
|
NM_032043.3(BRIP1):c.1340+2_1340+5del
|
rs2077945546
|
|
NM_032043.3(BRIP1):c.1340+5G>C
|
rs869312791
|
|
NM_032043.3(BRIP1):c.1341-1G>C
|
|
|
NM_032043.3(BRIP1):c.1341-2A>C
|
|
|
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)
|
rs1555605955
|
|
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs)
|
rs768736851
|
|
NM_032043.3(BRIP1):c.1473+1G>A
|
rs748274524
|
|
NM_032043.3(BRIP1):c.1473+1G>C
|
rs748274524
|
|
NM_032043.3(BRIP1):c.1473+1G>T
|
rs748274524
|
|
NM_032043.3(BRIP1):c.1474-13_1475del
|
rs1555603635
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
NM_032043.3(BRIP1):c.1474-2A>G
|
rs1603337052
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
|
|
|
NM_032043.3(BRIP1):c.1628+1G>C
|
rs1438975574
|
|
NM_032043.3(BRIP1):c.1629-17_1652del
|
|
|
NM_032043.3(BRIP1):c.1629-1G>A
|
rs1060501757
|
|
NM_032043.3(BRIP1):c.1629-1G>C
|
rs1060501757
|
|
NM_032043.3(BRIP1):c.1629-1G>T
|
rs1060501757
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032043.3(BRIP1):c.1794+2T>G
|
|
|
NM_032043.3(BRIP1):c.1795-1G>A
|
rs1368457771
|
|
NM_032043.3(BRIP1):c.1795-1G>C
|
|
|
NM_032043.3(BRIP1):c.1795-2del
|
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
NM_032043.3(BRIP1):c.1878A>C (p.Glu626Asp)
|
rs1567812484
|
|
NM_032043.3(BRIP1):c.1878A>T (p.Glu626Asp)
|
rs1567812484
|
|
NM_032043.3(BRIP1):c.1935+1G>A
|
|
|
NM_032043.3(BRIP1):c.1936-1G>A
|
rs1555601204
|
|
NM_032043.3(BRIP1):c.1936-1G>C
|
rs1555601204
|
|
NM_032043.3(BRIP1):c.1936-2A>C
|
rs878855143
|
|
NM_032043.3(BRIP1):c.1936-2A>G
|
rs878855143
|
|
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
NM_032043.3(BRIP1):c.205+1del
|
rs1057517648
|
|
NM_032043.3(BRIP1):c.205+2T>G
|
rs1060501763
|
|
NM_032043.3(BRIP1):c.205+5G>A
|
rs2078948368
|
|
NM_032043.3(BRIP1):c.205+5G>T
|
rs2078948368
|
|
NM_032043.3(BRIP1):c.2097+1G>C
|
rs786202941
|
|
NM_032043.3(BRIP1):c.2097+1G>T
|
rs786202941
|
|
NM_032043.3(BRIP1):c.2097+2T>A
|
rs2077532634
|
|
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2257+1G>A
|
rs2077029293
|
|
NM_032043.3(BRIP1):c.2258-1G>A
|
rs1064793887
|
|
NM_032043.3(BRIP1):c.2258-1G>C
|
|
|
NM_032043.3(BRIP1):c.2341dup (p.Thr781fs)
|
rs1555590388
|
|
NM_032043.3(BRIP1):c.2370_2379+20del
|
rs2144674380
|
|
NM_032043.3(BRIP1):c.2379+1G>T
|
rs1555590286
|
|
NM_032043.3(BRIP1):c.2380-1G>A
|
rs1567756032
|
|
NM_032043.3(BRIP1):c.2380-2A>C
|
rs2144384449
|
|
NM_032043.3(BRIP1):c.2380-45_2402delinsTTGACCATTTGAATGGT
|
rs2061856480
|
|
NM_032043.3(BRIP1):c.2492+1G>C
|
rs1567755539
|
|
NM_032043.3(BRIP1):c.2492+1G>T
|
|
|
NM_032043.3(BRIP1):c.2492+1del
|
rs1603293314
|
|
NM_032043.3(BRIP1):c.2492+2T>C
|
|
|
NM_032043.3(BRIP1):c.2492_2492+5del
|
rs1603293306
|
|
NM_032043.3(BRIP1):c.2493-1G>A
|
rs786203451
|
|
NM_032043.3(BRIP1):c.2493-2A>G
|
rs1603280621
|
|
NM_032043.3(BRIP1):c.2493-3_2493-1del
|
|
|
NM_032043.3(BRIP1):c.2575+1G>C
|
|
|
NM_032043.3(BRIP1):c.2575+1G>T
|
rs1567737536
|
|
NM_032043.3(BRIP1):c.2575G>A (p.Gly859Arg)
|
rs2061476512
|
|
NM_032043.3(BRIP1):c.2576-1G>A
|
rs587782539
|
|
NM_032043.3(BRIP1):c.2576-1G>T
|
rs587782539
|
|
NM_032043.3(BRIP1):c.2576-2A>G
|
rs869312763
|
|
NM_032043.3(BRIP1):c.2714del (p.Asn905fs)
|
rs2144114210
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
NM_032043.3(BRIP1):c.2867C>G (p.Ser956Ter)
|
rs761639530
|
|
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
|
|
|
NM_032043.3(BRIP1):c.2905+1G>A
|
rs876660203
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
NM_032043.3(BRIP1):c.2920dup (p.Leu974fs)
|
|
|
NM_032043.3(BRIP1):c.2968_2971del (p.Ser990fs)
|
|
|
NM_032043.3(BRIP1):c.2978dup (p.Asn994fs)
|
rs2144092520
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2995A>T (p.Arg999Ter)
|
|
|
NM_032043.3(BRIP1):c.3005G>A (p.Trp1002Ter)
|
|
|
NM_032043.3(BRIP1):c.3015dup (p.Asn1006Ter)
|
rs1603275598
|
|
NM_032043.3(BRIP1):c.3022_3047del (p.Leu1008fs)
|
|
|
NM_032043.3(BRIP1):c.3023_3024insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGTAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGATACTAATTCTTT (p.Leu1008fs)
|
rs2144091036
|
|
NM_032043.3(BRIP1):c.3023dup (p.Leu1008fs)
|
rs2144091008
|
|
NM_032043.3(BRIP1):c.3028C>T (p.Gln1010Ter)
|
|
|
NM_032043.3(BRIP1):c.3039del (p.Gly1014fs)
|
rs2144090521
|
|
NM_032043.3(BRIP1):c.3053del (p.Lys1018fs)
|
rs2144090014
|
|
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)
|
rs1342519012
|
|
NM_032043.3(BRIP1):c.3074C>A (p.Ser1025Ter)
|
rs1603275526
|
|
NM_032043.3(BRIP1):c.3117_3118del (p.Lys1040fs)
|
|
|
NM_032043.3(BRIP1):c.3127del (p.Ser1043fs)
|
rs2061318961
|
|
NM_032043.3(BRIP1):c.3136_3137del (p.Val1046fs)
|
|
|
NM_032043.3(BRIP1):c.3167C>G (p.Ser1056Ter)
|
rs1603275438
|
|
NM_032043.3(BRIP1):c.3167del (p.Ser1055_Ser1056insTer)
|
|
|
NM_032043.3(BRIP1):c.3187del (p.Ser1063fs)
|
|
|
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)
|
rs748598593
|
|
NM_032043.3(BRIP1):c.3209C>A (p.Ser1070Ter)
|
rs777213170
|
|
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)
|
rs1603275367
|
|
NM_032043.3(BRIP1):c.3223_3226del (p.Ser1075fs)
|
|
|
NM_032043.3(BRIP1):c.3232A>T (p.Lys1078Ter)
|
rs786202927
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)
|
rs771654971
|
|
NM_032043.3(BRIP1):c.3289G>T (p.Glu1097Ter)
|
rs770509300
|
|
NM_032043.3(BRIP1):c.3310G>T (p.Glu1104Ter)
|
rs1555572698
|
|
NM_032043.3(BRIP1):c.3324_3325insT (p.Ser1109Ter)
|
|
|
NM_032043.3(BRIP1):c.3328G>T (p.Glu1110Ter)
|
rs1060501774
|
|
NM_032043.3(BRIP1):c.3340C>T (p.Gln1114Ter)
|
rs1555572681
|
|
NM_032043.3(BRIP1):c.3358_3359del (p.Asp1120fs)
|
rs1603275179
|
|
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs)
|
rs1426528935
|
|
NM_032043.3(BRIP1):c.3386_3387del (p.Ser1129fs)
|
rs2144077998
|
|
NM_032043.3(BRIP1):c.3387_3388insTT (p.Ile1130fs)
|
rs2061309076
|
|
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)
|
rs778664039
|
|
NM_032043.3(BRIP1):c.3396dup (p.Thr1133fs)
|
|
|
NM_032043.3(BRIP1):c.3401del (p.Pro1134fs)
|
rs756853672
|
|
NM_032043.3(BRIP1):c.379+1G>A
|
rs1437158047
|
|
NM_032043.3(BRIP1):c.379+1G>T
|
rs1437158047
|
|
NM_032043.3(BRIP1):c.379+2T>C
|
rs2145825816
|
|
NM_032043.3(BRIP1):c.380-1G>C
|
rs2145767071
|
|
NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter)
|
rs1555618727
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
NM_032043.3(BRIP1):c.507+1G>T
|
rs2145761239
|
|
NM_032043.3(BRIP1):c.507+2T>A
|
|
|
NM_032043.3(BRIP1):c.507G>A (p.Gln169=)
|
rs876660937
|
|
NM_032043.3(BRIP1):c.508-1G>C
|
rs864622277
|
|
NM_032043.3(BRIP1):c.508-1G>T
|
rs864622277
|
|
NM_032043.3(BRIP1):c.508-2A>C
|
rs876659707
|
|
NM_032043.3(BRIP1):c.508-2A>T
|
rs876659707
|
|
NM_032043.3(BRIP1):c.627+1G>A
|
rs587780833
|
|
NM_032043.3(BRIP1):c.627+2T>A
|
rs2078745026
|
|
NM_032043.3(BRIP1):c.628-1G>A
|
rs1219435870
|
|
NM_032043.3(BRIP1):c.628-2A>G
|
rs995056553
|
|
NM_032043.3(BRIP1):c.628-2A>T
|
rs995056553
|
|
NM_032043.3(BRIP1):c.628-2_628-1insACATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGTTTCTCTACATCCTCTCCAGCTTCTGTTGTTTCCTGACTGTTTAATGATCACCATTCTAACTGGTGTGAGAG
|
|
|
NM_032043.3(BRIP1):c.628-5_629del
|
rs1555609402
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
NM_032043.3(BRIP1):c.720del (p.Lys240fs)
|
rs1567838246
|
|
NM_032043.3(BRIP1):c.73_93+14del
|
rs2145863122
|
|
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs)
|
rs2078112057
|
|
NM_032043.3(BRIP1):c.78dup (p.Ala27fs)
|
rs1555618709
|
|
NM_032043.3(BRIP1):c.840del (p.His281fs)
|
rs1555609191
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
NM_032043.3(BRIP1):c.918+2790_1121del
|
|
|
NM_032043.3(BRIP1):c.919-1G>A
|
|
|
NM_032043.3(BRIP1):c.93+1G>A
|
rs587782047
|
|
NM_032043.3(BRIP1):c.93+1G>T
|
rs587782047
|
|
NM_032043.3(BRIP1):c.93+2T>C
|
rs775755739
|
|
NM_032043.3(BRIP1):c.93+2del
|
|
|
NM_032043.3(BRIP1):c.93+4_93+7del
|
rs1224034842
|
|
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs)
|
rs1555607792
|
|
NM_032043.3(BRIP1):c.94-1G>A
|
|
|
NM_032444.4(SLX4):c.106G>T (p.Glu36Ter)
|
|
|
NM_032444.4(SLX4):c.1116_1117insT (p.Leu373fs)
|
rs2151133987
|
|
NM_032444.4(SLX4):c.1125del (p.Ala376fs)
|
rs2151133964
|
|
NM_032444.4(SLX4):c.1163+1G>A
|
|
|
NM_032444.4(SLX4):c.1684-1G>A
|
|
|
NM_032444.4(SLX4):c.1684-2A>C
|
|
|
NM_032444.4(SLX4):c.2013+2T>C
|
|
|
NM_032444.4(SLX4):c.2161-2A>T
|
rs2151127331
|
|
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)
|
rs1596520443
|
|
NM_032444.4(SLX4):c.425del (p.Gly142fs)
|
rs757662453
|
|
NM_032444.4(SLX4):c.4585C>T (p.Gln1529Ter)
|
rs1237224833
|
|
NM_032444.4(SLX4):c.4881del (p.Thr1628fs)
|
rs1596515638
|
|
NM_032444.4(SLX4):c.5097_5098del (p.Gln1700fs)
|
rs1022072026
|
|
NM_032444.4(SLX4):c.5120_5121del (p.Val1707fs)
|
rs2040460653
|
|
NM_032444.4(SLX4):c.5172del (p.Phe1724fs)
|
|
|
NM_032444.4(SLX4):c.5216_5217dup (p.Val1740fs)
|
rs2151115927
|
|
NM_032444.4(SLX4):c.5229dup (p.Gln1744fs)
|
rs781479923
|
|
NM_032444.4(SLX4):c.951-1G>C
|
|
|
NM_032444.4(SLX4):c.951-1G>T
|
rs750371433
|
|
NM_033022.4(RPS24):c.157del (p.Asp53fs)
|
rs2131976643
|
|
NM_033022.4(RPS24):c.273del (p.Ala92fs)
|
|
|
NM_033022.4(RPS24):c.279+5G>T
|
|
|
NM_033084.6(FANCD2):c.2609_2613del
|
|
|
NM_033084.6(FANCD2):c.3107_3108del
|
rs2125059924
|
|
NM_058216.3(RAD51C):c.1000G>T (p.Glu334Ter)
|
|
|
NM_058216.3(RAD51C):c.1000del (p.Glu334fs)
|
rs1567817415
|
|
NM_058216.3(RAD51C):c.1003_1004insTTCC (p.Cys335fs)
|
|
|
NM_058216.3(RAD51C):c.1018C>T (p.Gln340Ter)
|
rs1555605103
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
NM_058216.3(RAD51C):c.1026+6T>A
|
rs2144046795
|
|
NM_058216.3(RAD51C):c.1030C>T (p.Gln344Ter)
|
|
|
NM_058216.3(RAD51C):c.1039A>T (p.Arg347Ter)
|
rs1555605532
|
|
NM_058216.3(RAD51C):c.1057_1066del (p.Ser353fs)
|
rs1064792966
|
|
NM_058216.3(RAD51C):c.1072C>T (p.Gln358Ter)
|
|
|
NM_058216.3(RAD51C):c.1080del (p.Gly361fs)
|
|
|
NM_058216.3(RAD51C):c.145+2T>G
|
rs1057517641
|
|
NM_058216.3(RAD51C):c.145+2_145+7delinsCTAAG
|
rs878855177
|
|
NM_058216.3(RAD51C):c.146-2A>G
|
rs1555593457
|
|
NM_058216.3(RAD51C):c.146-4_146-2del
|
rs1555593450
|
|
NM_058216.3(RAD51C):c.250A>T (p.Lys84Ter)
|
rs1555593616
|
|
NM_058216.3(RAD51C):c.374G>T (p.Gly125Val)
|
rs267606998
|
|
NM_058216.3(RAD51C):c.404G>C (p.Cys135Ser)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.404G>T (p.Cys135Phe)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.405-1G>A
|
rs587782036
|
|
NM_058216.3(RAD51C):c.405-1G>C
|
rs587782036
|
|
NM_058216.3(RAD51C):c.405-2A>G
|
rs2048020646
|
|
NM_058216.3(RAD51C):c.571+1del
|
rs1327086366
|
|
NM_058216.3(RAD51C):c.571+2863A>G
|
|
|
NM_058216.3(RAD51C):c.571+2T>A
|
rs1567789009
|
|
NM_058216.3(RAD51C):c.571+3013_590del
|
|
|
NM_058216.3(RAD51C):c.571G>A (p.Glu191Lys)
|
rs1598460983
|
|
NM_058216.3(RAD51C):c.572-1G>C
|
rs1413872299
|
|
NM_058216.3(RAD51C):c.705+1G>A
|
rs876658644
|
|
NM_058216.3(RAD51C):c.705+1G>T
|
rs876658644
|
|
NM_058216.3(RAD51C):c.705G>T (p.Lys235Asn)
|
rs755849719
|
|
NM_058216.3(RAD51C):c.706-2A>C
|
rs587780259
|
|
NM_058216.3(RAD51C):c.837+1G>T
|
rs760235677
|
|
NM_058216.3(RAD51C):c.837+1del
|
rs1555599288
|
|
NM_058216.3(RAD51C):c.837+2T>C
|
rs1567799943
|
|
NM_058216.3(RAD51C):c.838-2A>G
|
rs748589398
|
|
NM_058216.3(RAD51C):c.838-2A>T
|
rs748589398
|
|
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter)
|
rs1598504016
|
|
NM_058216.3(RAD51C):c.894dup (p.Pro299fs)
|
rs2048893092
|
|
NM_058216.3(RAD51C):c.904+1G>A
|
rs1555602159
|
|
NM_058216.3(RAD51C):c.904+1G>T
|
rs1555602159
|
|
NM_058216.3(RAD51C):c.904+2T>C
|
rs2143932427
|
|
NM_058216.3(RAD51C):c.904_904+11del
|
|
|
NM_058216.3(RAD51C):c.934C>G (p.Arg312Gly)
|
rs730881932
|
|
NM_058216.3(RAD51C):c.946del (p.His316fs)
|
|
|
NM_058216.3(RAD51C):c.964del (p.Arg322fs)
|
rs1555603056
|
|
NM_058216.3(RAD51C):c.965+6T>A
|
|
|
NM_058216.3(RAD51C):c.990del (p.Ser331fs)
|
|
|
NM_058216.3(RAD51C):c.994C>T (p.Gln332Ter)
|
rs1555605074
|
|
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer)
|
rs1597834560
|
|
NM_138477.4(CDAN1):c.2062C>T (p.Arg688Trp)
|
|
|
NM_138477.4(CDAN1):c.2066C>A (p.Ala689Glu)
|
rs140334403
|
|
NM_138477.4(CDAN1):c.2173C>T (p.Arg725Trp)
|
rs138334226
|
|
NM_138477.4(CDAN1):c.230del (p.Gly77fs)
|
|
|
NM_138477.4(CDAN1):c.2403dup (p.Ile802fs)
|
|
|
NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)
|
rs80338697
|
|
NM_138477.4(CDAN1):c.3290dup (p.Gly1098fs)
|
|
|
NM_138477.4(CDAN1):c.788del (p.Gln263fs)
|
|
|
NM_138477.4(CDAN1):c.885_886del (p.Arg295fs)
|
|
|
NM_148923.4(CYB5A):c.131A>T (p.His44Leu)
|
rs1555688659
|
|
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter)
|
rs1555691399
|
|
NM_182916.3(TRNT1):c.1057-7C>G
|
rs368078167
|
|
NM_182916.3(TRNT1):c.128_130del (p.Glu43del)
|
rs876661297
|
|
NM_182916.3(TRNT1):c.342+1G>T
|
|
|
NM_182916.3(TRNT1):c.443C>T (p.Ala148Val)
|
rs761516140
|
|
NM_182916.3(TRNT1):c.498_501del (p.Phe167fs)
|
rs754883449
|
|
NM_182916.3(TRNT1):c.608G>A (p.Arg203Lys)
|
rs750995691
|
|
NM_182922.4(HEATR3):c.1751G>A (p.Gly584Glu)
|
rs917466219
|
|
NM_198253.3(TERT):c.336dup (p.Glu113fs)
|
rs1060502990
|
|
NM_198291.3(SRC):c.1579G>A (p.Glu527Lys)
|
rs879255268
|
|
NM_206965.2(FTCD):c.1068_1098+24del
|
|
|
NM_206965.2(FTCD):c.1261-1G>A
|
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|
Single allele
|
|
|