NM_000375.3(UROS):c.-219C>A
|
rs4385801
|
0.41780
|
NM_198253.3(TERT):c.915G>A (p.Ala305=)
|
rs2736098
|
0.21206
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000324.3(RHAG):c.808G>A (p.Val270Ile)
|
rs16879498
|
0.04007
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_198253.3(TERT):c.835G>A (p.Ala279Thr)
|
rs61748181
|
0.02258
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_198253.3(TERT):c.1234C>T (p.His412Tyr)
|
rs34094720
|
0.00316
|
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His)
|
rs147390654
|
0.00294
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_000518.5(HBB):c.-79A>G
|
rs34598529
|
0.00091
|
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp)
|
rs200483477
|
0.00072
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)
|
rs138248569
|
0.00026
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_000375.3(UROS):c.217T>C (p.Cys73Arg)
|
rs121908012
|
0.00022
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_000518.5(HBB):c.-138C>T
|
rs33944208
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)
|
rs121913059
|
0.00019
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_032444.4(SLX4):c.845C>T (p.Ser282Leu)
|
rs138618354
|
0.00015
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_004629.2(FANCG):c.1367A>T (p.His456Leu)
|
rs148808709
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_080669.6(SLC46A1):c.1127G>A (p.Arg376Gln)
|
rs281875211
|
0.00010
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_001081.4(CUBN):c.7646C>T (p.Thr2549Met)
|
rs537292240
|
0.00009
|
NM_001114134.2(EPB42):c.859C>T (p.Arg287Cys)
|
rs515726212
|
0.00009
|
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)
|
rs121918664
|
0.00009
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_002454.3(MTRR):c.1573C>T (p.Arg525Ter)
|
rs147277149
|
0.00007
|
NM_000375.3(UROS):c.673G>A (p.Gly225Ser)
|
rs121908020
|
0.00006
|
NM_000518.5(HBB):c.75T>A (p.Gly25=)
|
rs33951465
|
0.00006
|
NM_018368.4(LMBRD1):c.1438A>G (p.Thr480Ala)
|
rs138023744
|
0.00006
|
NM_018368.4(LMBRD1):c.1510G>T (p.Val504Leu)
|
rs980145400
|
0.00006
|
NM_000518.5(HBB):c.*110T>C
|
rs33978907
|
0.00005
|
NM_000518.5(HBB):c.316-197C>T
|
rs34451549
|
0.00005
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_001376013.1(EPB41):c.2047G>C (p.Ala683Pro)
|
rs199764020
|
0.00005
|
NM_138477.4(CDAN1):c.3389C>T (p.Pro1130Leu)
|
rs80338699
|
0.00005
|
NM_000059.4(BRCA2):c.8113A>G (p.Ser2705Gly)
|
rs756105620
|
0.00004
|
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)
|
rs374537936
|
0.00004
|
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
|
rs755992543
|
0.00004
|
NM_000518.5(HBB):c.-137C>A
|
rs33941377
|
0.00004
|
NM_000518.5(HBB):c.-140C>T
|
rs34999973
|
0.00004
|
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His)
|
rs199422220
|
0.00004
|
NM_024675.4(PALB2):c.2674G>A (p.Glu892Lys)
|
rs45476495
|
0.00004
|
NM_030943.4(AMN):c.208-2A>G
|
rs386834170
|
0.00004
|
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val)
|
rs142620413
|
0.00003
|
NM_000518.5(HBB):c.-151C>T
|
rs63751208
|
0.00003
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_000518.5(HBB):c.316-2A>G
|
rs33914668
|
0.00003
|
NM_080669.6(SLC46A1):c.1082-1G>A
|
rs80338775
|
0.00003
|
NM_080669.6(SLC46A1):c.1126C>T (p.Arg376Trp)
|
rs80338773
|
0.00003
|
NM_000059.4(BRCA2):c.3137A>G (p.Glu1046Gly)
|
rs80358559
|
0.00002
|
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr)
|
rs752532498
|
0.00002
|
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)
|
rs104886458
|
0.00002
|
NM_000518.5(HBB):c.20del (p.Glu7fs)
|
rs63749819
|
0.00002
|
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)
|
rs33986703
|
0.00002
|
NM_000518.5(HBB):c.82G>T (p.Ala28Ser)
|
rs35424040
|
0.00002
|
NM_004629.2(FANCG):c.1480+1G>C
|
rs149616199
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_000059.4(BRCA2):c.1466C>G (p.Ser489Cys)
|
rs587782535
|
0.00001
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile)
|
rs756463217
|
0.00001
|
NM_000059.4(BRCA2):c.7090G>A (p.Glu2364Lys)
|
rs80358940
|
0.00001
|
NM_000119.2(EPB42):c.424G>A (p.Ala142Thr)
|
rs104894487
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)
|
rs121917784
|
0.00001
|
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)
|
rs767302089
|
0.00001
|
NM_000136.3(FANCC):c.76T>A (p.Ser26Thr)
|
rs1165230596
|
0.00001
|
NM_000186.4(CFH):c.3590T>C (p.Val1197Ala)
|
rs460184
|
0.00001
|
NM_000375.3(UROS):c.-203T>C
|
rs1554891988
|
0.00001
|
NM_000375.3(UROS):c.244G>T (p.Val82Phe)
|
rs121908016
|
0.00001
|
NM_000518.5(HBB):c.*111A>G
|
rs63751128
|
0.00001
|
NM_000518.5(HBB):c.-78A>G
|
rs33931746
|
0.00001
|
NM_000518.5(HBB):c.25_26del (p.Lys9fs)
|
rs35497102
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_001081.4(CUBN):c.1000C>T (p.Gln334Ter)
|
rs561240556
|
0.00001
|
NM_001081.4(CUBN):c.1022A>G (p.Gln341Arg)
|
rs149517557
|
0.00001
|
NM_001113378.2(FANCI):c.3918T>G (p.Asn1306Lys)
|
rs561190476
|
0.00001
|
NM_001114134.2(EPB42):c.830C>T (p.Thr277Ile)
|
rs515726211
|
0.00001
|
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
|
rs104894809
|
0.00001
|
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)
|
rs796051996
|
0.00001
|
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs)
|
rs786203346
|
0.00001
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
NM_032043.3(BRIP1):c.3464G>A (p.Gly1155Glu)
|
rs45603843
|
0.00001
|
NM_080669.6(SLC46A1):c.954C>G (p.Ser318Arg)
|
rs80338772
|
0.00001
|
NM_198253.3(TERT):c.2080G>A (p.Val694Met)
|
rs121918662
|
0.00001
|
GRCh37/hg19 16p12.2(chr16:23614483-23619333)x1
|
|
|
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1
|
|
|
GRCh37/hg19 17q21.31(chr17:41230488-41235856)x3
|
|
|
GRCh37/hg19 17q22(chr17:56787220-56811584)x1
|
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.3816G>C (p.Met1272Ile)
|
rs1469541725
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer)
|
rs80359459
|
|
NM_000059.4(BRCA2):c.4631del (p.Asn1544fs)
|
rs80359460
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs)
|
rs80359520
|
|
NM_000059.4(BRCA2):c.6347A>T (p.His2116Leu)
|
rs55953736
|
|
NM_000059.4(BRCA2):c.7934del (p.Arg2645fs)
|
rs80359688
|
|
NM_000059.4(BRCA2):c.7977-1G>C
|
rs81002874
|
|
NM_000059.4(BRCA2):c.8487+3A>G
|
rs81002806
|
|
NM_000059.4(BRCA2):c.8672C>G (p.Thr2891Arg)
|
rs1401510742
|
|
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)
|
rs397508010
|
|
NM_000059.4(BRCA2):c.956dup (p.Asn319fs)
|
rs80359770
|
|
NM_000096.4(CP):c.2962G>A (p.Gly988Ser)
|
rs386134133
|
|
NM_000096.4(CP):c.2991T>G (p.His997Gln)
|
rs34394958
|
|
NM_000119.2(EPB42):c.929G>A (p.Arg310Gln)
|
rs121917734
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)
|
rs755546887
|
|
NM_000136.3(FANCC):c.165+1G>T
|
rs794726668
|
|
NM_000136.3(FANCC):c.455dup (p.Asn152fs)
|
rs774170058
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu)
|
rs460897
|
|
NM_000355.4(TCN2):c.626C>G (p.Ser209Ter)
|
rs796064505
|
|
NM_000355.4(TCN2):c.927_930del (p.Cys309fs)
|
rs1157135425
|
|
NM_000375.3(UROS):c.-26-197C>A
|
rs397515351
|
|
NM_000375.3(UROS):c.139T>C (p.Ser47Pro)
|
rs397515527
|
|
NM_000375.3(UROS):c.197C>T (p.Ala66Val)
|
rs28941774
|
|
NM_000375.3(UROS):c.311C>T (p.Ala104Val)
|
rs397515528
|
|
NM_000518.4(HBB):c.-136C>G
|
rs33994806
|
|
NM_000518.4(HBB):c.-137C>T
|
rs33941377
|
|
NM_000518.4(HBB):c.-80T>A
|
rs33980857
|
|
NM_000518.4(HBB):c.-80del
|
rs397509430
|
|
NM_000518.5(HBB):c.*113A>G
|
rs33985472
|
|
NM_000518.5(HBB):c.*6C>G
|
rs34809925
|
|
NM_000518.5(HBB):c.-137C>G
|
rs33941377
|
|
NM_000518.5(HBB):c.-138C>A
|
rs33944208
|
|
NM_000518.5(HBB):c.-142C>T
|
rs34883338
|
|
NM_000518.5(HBB):c.-18C>G
|
rs34135787
|
|
NM_000518.5(HBB):c.-29G>A
|
rs34704828
|
|
NM_000518.5(HBB):c.-41del
|
rs35352549
|
|
NM_000518.5(HBB):c.-50A>C
|
rs34305195
|
|
NM_000518.5(HBB):c.-81A>G
|
rs33981098
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.135del (p.Phe46fs)
|
rs80356820
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000518.5(HBB):c.316-2A>C
|
rs33914668
|
|
NM_000518.5(HBB):c.316-7C>G
|
rs34483965
|
|
NM_000518.5(HBB):c.59A>G (p.Asn20Ser)
|
rs33972047
|
|
NM_000518.5(HBB):c.72T>A (p.Val24=)
|
rs2133589317
|
|
NM_000987.5(RPL26):c.341del (p.Asp114fs)
|
rs2151671987
|
|
NM_001018115.3(FANCD2):c.103T>C (p.Ser35Pro)
|
rs773847165
|
|
NM_001099274.3(TINF2):c.862T>C (p.Phe288Leu)
|
rs199422317
|
|
NM_001113378.2(FANCI):c.866T>C (p.Leu289Pro)
|
rs1210148997
|
|
NM_001114134.2(EPB42):c.433G>T (p.Asp145Tyr)
|
rs143682977
|
|
NM_001114134.2(EPB42):c.860del (p.Arg287fs)
|
rs515726213
|
|
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met)
|
rs72554634
|
|
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp)
|
rs515726147
|
|
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys)
|
rs587777101
|
|
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln)
|
rs587777100
|
|
NM_001355436.2(SPTB):c.4520G>T (p.Gly1507Val)
|
rs2139530241
|
|
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His)
|
rs1560621495
|
|
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile)
|
rs199422222
|
|
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu)
|
rs767833468
|
|
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr)
|
rs199422221
|
|
NM_001701.4(BAAT):c.858C>G (p.Ser286=)
|
rs80356746
|
|
NM_001701.4(BAAT):c.967A>G (p.Ile323Val)
|
rs80356747
|
|
NM_002049.4(GATA1):c.1240T>C (p.Ter414Arg)
|
rs587776456
|
|
NM_002049.4(GATA1):c.220+1del
|
rs587776453
|
|
NM_002049.4(GATA1):c.220G>C (p.Val74Leu)
|
rs587776452
|
|
NM_002049.4(GATA1):c.2T>C (p.Met1Thr)
|
rs587776451
|
|
NM_002049.4(GATA1):c.613G>A (p.Val205Met)
|
rs104894815
|
|
NM_002049.4(GATA1):c.622G>C (p.Gly208Arg)
|
rs587776454
|
|
NM_002049.4(GATA1):c.622_623delinsTC (p.Gly208Ser)
|
rs137852312
|
|
NM_002049.4(GATA1):c.646C>T (p.Arg216Trp)
|
rs387907207
|
|
NM_002049.4(GATA1):c.652G>T (p.Asp218Tyr)
|
rs104894808
|
|
NM_002049.4(GATA1):c.653A>G (p.Asp218Gly)
|
rs104894816
|
|
NM_002485.5(NBN):c.115C>A (p.Gln39Lys)
|
rs377730553
|
|
NM_004629.2(FANCG):c.1183_1192del (p.Glu395fs)
|
rs397507559
|
|
NM_004629.2(FANCG):c.307+1G>C
|
rs200479612
|
|
NM_004629.2(FANCG):c.925-2A>G
|
rs397507561
|
|
NM_005142.2(CBLIF):c.-376A>T
|
rs796064509
|
|
NM_005142.3(CBLIF):c.346C>T (p.Gln116Ter)
|
rs796064508
|
|
NM_005142.3(CBLIF):c.432GAA[1] (p.Lys145del)
|
rs770530971
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NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del)
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rs796064513
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NM_015702.3(MMADHC):c.133dup (p.Ala45fs)
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rs864309740
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NM_015702.3(MMADHC):c.160C>T (p.Arg54Ter)
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rs118204047
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NM_015702.3(MMADHC):c.228dup (p.Asn77fs)
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rs864309741
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NM_015702.3(MMADHC):c.307_324dup (p.Leu103_Ser108dup)
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rs397509362
|
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NM_015702.3(MMADHC):c.455dup (p.Cys153fs)
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rs864309743
|
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NM_015702.3(MMADHC):c.57_64del (p.Cys19_Ser20insTer)
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rs397509361
|
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NM_015702.3(MMADHC):c.60_61insAT (p.Leu21fs)
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rs864309742
|
|
NM_024675.4(PALB2):c.1490del (p.Asn497fs)
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rs1555461253
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NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
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rs886039480
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NM_024675.4(PALB2):c.2571G>A (p.Leu857=)
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rs587780821
|
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NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
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rs180177092
|
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NM_030943.4(AMN):c.742C>T (p.Gln248Ter)
|
rs386834177
|
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NM_032444.4(SLX4):c.1898G>T (p.Gly633Val)
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rs1056085
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NM_032444.4(SLX4):c.2944G>T (p.Asp982Tyr)
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rs753733757
|
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NM_058216.3(RAD51C):c.672_705+65dup
|
rs1555597214
|
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NM_058216.3(RAD51C):c.884C>G (p.Ala295Gly)
|
rs1555602136
|
|
NM_080669.6(SLC46A1):c.1274C>G (p.Pro425Arg)
|
rs80338774
|
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NM_080669.6(SLC46A1):c.194del (p.Gly65fs)
|
rs80338769
|
|
NM_080669.6(SLC46A1):c.337C>A (p.Arg113Ser)
|
rs80338770
|
|
NM_080669.6(SLC46A1):c.439G>C (p.Gly147Arg)
|
rs80338771
|
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NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)
|
rs80338697
|
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NM_182916.3(TRNT1):c.811G>A (p.Ala271Thr)
|
rs1553555777
|
|
NM_198253.3(TERT):c.2147C>T (p.Ala716Val)
|
rs199422298
|
|
NM_198253.3(TERT):c.2315A>G (p.Tyr772Cys)
|
rs121918663
|
|
NM_198253.3(TERT):c.2537A>G (p.Tyr846Cys)
|
rs199422302
|
|
NM_198253.3(TERT):c.2628C>G (p.His876Gln)
|
rs199422303
|
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NM_198253.3(TERT):c.2935C>T (p.Arg979Trp)
|
rs199422305
|
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NM_198253.3(TERT):c.3043T>C (p.Cys1015Arg)
|
rs199422307
|
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NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
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