NM_000507.4(FBP1):c.653G>A (p.Arg218Lys)
|
rs1769259
|
0.95944
|
NM_000507.4(FBP1):c.960A>G (p.Gly320=)
|
rs1769257
|
0.88821
|
NM_000507.4(FBP1):c.*21C>T
|
rs9695
|
0.51483
|
NM_000507.4(FBP1):c.705+14C>T
|
rs2297084
|
0.51109
|
NM_000507.4(FBP1):c.567+31G>A
|
rs3739747
|
0.41075
|
NM_000507.4(FBP1):c.426+7C>T
|
rs8192689
|
0.31642
|
NM_000507.4(FBP1):c.651C>T (p.Ala217=)
|
rs1042144
|
0.30883
|
NM_000507.4(FBP1):c.-194C>T
|
rs2296707
|
0.10821
|
NM_000507.4(FBP1):c.276G>T (p.Thr92=)
|
rs16910744
|
0.04339
|
NM_000507.4(FBP1):c.*121T>G
|
rs2274689
|
0.01225
|
NM_000507.4(FBP1):c.-154C>G
|
rs28382860
|
0.00743
|
NM_000507.4(FBP1):c.237C>T (p.Asn79=)
|
rs201591116
|
0.00398
|
NM_000507.4(FBP1):c.865A>T (p.Met289Leu)
|
rs145771944
|
0.00369
|
NM_000507.3(FBP1):c.-238G>A
|
rs974736435
|
0.00098
|
NM_000507.4(FBP1):c.345G>A (p.Val115=)
|
rs61753273
|
0.00078
|
NM_000507.4(FBP1):c.745A>C (p.Met249Leu)
|
rs147392679
|
0.00065
|
NM_000507.4(FBP1):c.334-15T>C
|
rs370920869
|
0.00063
|
NM_000507.4(FBP1):c.275C>T (p.Thr92Met)
|
rs141270413
|
0.00052
|
NM_001127628.2(FBP1):c.-24-321C>G
|
rs28382859
|
0.00041
|
NM_000507.4(FBP1):c.670G>A (p.Val224Ile)
|
rs140222720
|
0.00040
|
NM_000507.4(FBP1):c.102G>C (p.Leu34=)
|
rs143832764
|
0.00029
|
NM_000507.4(FBP1):c.495C>T (p.Tyr165=)
|
rs139264724
|
0.00029
|
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp)
|
rs200679026
|
0.00028
|
NM_000507.4(FBP1):c.906C>T (p.Ala302=)
|
rs28369776
|
0.00026
|
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)
|
rs757653154
|
0.00022
|
NM_000507.4(FBP1):c.141G>C (p.Ser47=)
|
rs148976582
|
0.00020
|
NM_000507.4(FBP1):c.818A>G (p.Asn273Ser)
|
rs143965326
|
0.00019
|
NM_000507.4(FBP1):c.334-17C>A
|
rs375155560
|
0.00013
|
NM_000507.4(FBP1):c.619G>C (p.Gly207Arg)
|
rs766175621
|
0.00012
|
NM_000507.4(FBP1):c.*152C>T
|
rs190431674
|
0.00011
|
NM_000507.4(FBP1):c.-130C>A
|
rs1003899519
|
0.00011
|
NM_000507.4(FBP1):c.-59A>T
|
rs913996916
|
0.00010
|
NM_000507.4(FBP1):c.14C>A (p.Ala5Glu)
|
rs759615686
|
0.00010
|
NM_000507.4(FBP1):c.664C>T (p.Pro222Ser)
|
rs1373961798
|
0.00009
|
NM_000507.4(FBP1):c.826-9G>C
|
rs200948424
|
0.00008
|
NM_000507.4(FBP1):c.195C>T (p.Asn65=)
|
rs146859261
|
0.00006
|
NM_000507.4(FBP1):c.798C>T (p.Pro266=)
|
rs142811660
|
0.00006
|
NM_000507.4(FBP1):c.915C>T (p.Asp305=)
|
rs762285012
|
0.00006
|
NM_000507.3(FBP1):c.-246G>T
|
rs921192380
|
0.00004
|
NM_000507.4(FBP1):c.477C>G (p.Asn159Lys)
|
rs199531187
|
0.00004
|
NM_000507.4(FBP1):c.567G>A (p.Pro189=)
|
rs376631329
|
0.00004
|
NM_000507.4(FBP1):c.606G>A (p.Lys202=)
|
rs111596938
|
0.00004
|
NM_000507.4(FBP1):c.764G>T (p.Arg255Leu)
|
rs28369761
|
0.00004
|
NM_000507.4(FBP1):c.799G>A (p.Ala267Thr)
|
rs576352790
|
0.00004
|
NM_000507.3(FBP1):c.-215G>C
|
rs987543611
|
0.00003
|
NM_000507.4(FBP1):c.-18G>T
|
rs1006994685
|
0.00003
|
NM_000507.4(FBP1):c.306C>T (p.His102=)
|
rs776366063
|
0.00003
|
NM_000507.4(FBP1):c.541G>A (p.Gly181Arg)
|
rs1372801499
|
0.00003
|
NM_000507.4(FBP1):c.649G>A (p.Ala217Thr)
|
rs569127795
|
0.00003
|
NM_000507.3(FBP1):c.-219C>T
|
rs1057515693
|
0.00002
|
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn)
|
rs758609113
|
0.00002
|
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp)
|
rs766005419
|
0.00002
|
NM_000507.4(FBP1):c.721T>C (p.Tyr241His)
|
rs757338386
|
0.00002
|
NM_000507.4(FBP1):c.825+14C>G
|
rs772828820
|
0.00002
|
NM_000507.4(FBP1):c.840C>T (p.Tyr280=)
|
rs377759037
|
0.00002
|
NM_000507.4(FBP1):c.324G>A (p.Pro108=)
|
rs745724824
|
0.00001
|
NM_000507.4(FBP1):c.397G>A (p.Val133Ile)
|
rs368583779
|
0.00001
|
NM_000507.4(FBP1):c.443C>A (p.Pro148His)
|
rs753167849
|
0.00001
|
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)
|
rs121918188
|
0.00001
|
NM_000507.4(FBP1):c.639C>T (p.Asn213=)
|
rs762007074
|
0.00001
|
NM_000507.4(FBP1):c.668C>A (p.Ala223Asp)
|
rs369420846
|
0.00001
|
NM_000507.4(FBP1):c.705A>G (p.Pro235=)
|
rs112446147
|
0.00001
|
NM_000507.4(FBP1):c.731G>A (p.Arg244Gln)
|
rs775808681
|
0.00001
|
NM_000507.4(FBP1):c.777C>T (p.Tyr259=)
|
rs1435646320
|
0.00001
|
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)
|
rs780803192
|
0.00001
|
NM_000507.4(FBP1):c.889A>G (p.Thr297Ala)
|
rs758841300
|
0.00001
|
NM_000507.4(FBP1):c.916G>A (p.Val306Ile)
|
rs865779742
|
0.00001
|
NM_000507.4(FBP1):c.970G>A (p.Asp324Asn)
|
rs201508880
|
0.00001
|
NM_000507.4(FBP1):c.977T>C (p.Leu326Pro)
|
rs759227114
|
0.00001
|
NM_000507.4(FBP1):c.978C>T (p.Leu326=)
|
rs774118438
|
0.00001
|
NM_000507.4(FBP1):c.997G>A (p.Glu333Lys)
|
rs1564191912
|
0.00001
|
GRCh37/hg19 9q22.32(chr9:97401423-97401592)
|
|
|
GRCh37/hg19 9q22.32(chr9:97401423-97401593)
|
|
|
NC_000009.11:g.(?_97365663)_(97372363_?)dup
|
|
|
NC_000009.11:g.(?_97365663)_(97401592_?)dup
|
|
|
NC_000009.12:g.(?_94639121)_(94639330_?)del
|
|
|
NC_000009.12:g.94620330_94620492del
|
rs1563984164
|
|
NM_000507.4(FBP1):c.*127C>T
|
rs1827636938
|
|
NM_000507.4(FBP1):c.*248del
|
rs11351544
|
|
NM_000507.4(FBP1):c.-208C>G
|
rs759920853
|
|
NM_000507.4(FBP1):c.-54C>A
|
rs1057515690
|
|
NM_000507.4(FBP1):c.1008T>C (p.Ser336=)
|
|
|
NM_000507.4(FBP1):c.1012del (p.Gln338fs)
|
|
|
NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup)
|
rs1554682769
|
|
NM_000507.4(FBP1):c.120A>G (p.Thr40=)
|
|
|
NM_000507.4(FBP1):c.127A>T (p.Lys43Ter)
|
rs2131509216
|
|
NM_000507.4(FBP1):c.131_132del (p.Ala44fs)
|
|
|
NM_000507.4(FBP1):c.138T>C (p.Ser46=)
|
|
|
NM_000507.4(FBP1):c.144G>A (p.Ala48=)
|
|
|
NM_000507.4(FBP1):c.144G>T (p.Ala48=)
|
|
|
NM_000507.4(FBP1):c.156G>C (p.Ala52=)
|
|
|
NM_000507.4(FBP1):c.168C>T (p.His56=)
|
|
|
NM_000507.4(FBP1):c.169C>T (p.Leu57Phe)
|
rs1427047737
|
|
NM_000507.4(FBP1):c.170+18C>T
|
|
|
NM_000507.4(FBP1):c.170+19G>T
|
|
|
NM_000507.4(FBP1):c.170+4A>G
|
|
|
NM_000507.4(FBP1):c.170+4del
|
rs2131509125
|
|
NM_000507.4(FBP1):c.170+7C>T
|
|
|
NM_000507.4(FBP1):c.170+9G>A
|
|
|
NM_000507.4(FBP1):c.171-11G>A
|
|
|
NM_000507.4(FBP1):c.171-11G>T
|
|
|
NM_000507.4(FBP1):c.171-17G>T
|
|
|
NM_000507.4(FBP1):c.171-20G>A
|
|
|
NM_000507.4(FBP1):c.171-4G>A
|
|
|
NM_000507.4(FBP1):c.171-6C>T
|
rs930280429
|
|
NM_000507.4(FBP1):c.183T>C (p.Ala61=)
|
|
|
NM_000507.4(FBP1):c.186T>C (p.Gly62=)
|
|
|
NM_000507.4(FBP1):c.1_170del (p.Met1fs)
|
rs1563991556
|
|
NM_000507.4(FBP1):c.216G>A (p.Lys72=)
|
|
|
NM_000507.4(FBP1):c.222G>C (p.Leu74=)
|
|
|
NM_000507.4(FBP1):c.225C>T (p.Asp75=)
|
|
|
NM_000507.4(FBP1):c.228C>T (p.Val76=)
|
|
|
NM_000507.4(FBP1):c.271G>T (p.Ala91Ser)
|
rs41316538
|
|
NM_000507.4(FBP1):c.276G>A (p.Thr92=)
|
|
|
NM_000507.4(FBP1):c.27G>C (p.Thr9=)
|
|
|
NM_000507.4(FBP1):c.282_289del (p.Leu95fs)
|
|
|
NM_000507.4(FBP1):c.285C>T (p.Leu95=)
|
|
|
NM_000507.4(FBP1):c.288G>A (p.Val96=)
|
|
|
NM_000507.4(FBP1):c.288G>T (p.Val96=)
|
|
|
NM_000507.4(FBP1):c.30C>T (p.Asp10=)
|
|
|
NM_000507.4(FBP1):c.312C>A (p.Ile104=)
|
|
|
NM_000507.4(FBP1):c.312C>T (p.Ile104=)
|
|
|
NM_000507.4(FBP1):c.323C>T (p.Pro108Leu)
|
|
|
NM_000507.4(FBP1):c.325G>T (p.Glu109Ter)
|
|
|
NM_000507.4(FBP1):c.333+15C>T
|
|
|
NM_000507.4(FBP1):c.333+16C>G
|
|
|
NM_000507.4(FBP1):c.333+16C>T
|
|
|
NM_000507.4(FBP1):c.333+17A>G
|
|
|
NM_000507.4(FBP1):c.333+2T>G
|
|
|
NM_000507.4(FBP1):c.333+8T>C
|
|
|
NM_000507.4(FBP1):c.334-12T>C
|
|
|
NM_000507.4(FBP1):c.334-17C>T
|
|
|
NM_000507.4(FBP1):c.334-5C>G
|
|
|
NM_000507.4(FBP1):c.342T>C (p.Tyr114=)
|
|
|
NM_000507.4(FBP1):c.343_347del (p.Val115fs)
|
|
|
NM_000507.4(FBP1):c.349T>C (p.Cys117Arg)
|
rs1563983269
|
|
NM_000507.4(FBP1):c.360C>G (p.Pro120=)
|
|
|
NM_000507.4(FBP1):c.366T>C (p.Asp122=)
|
|
|
NM_000507.4(FBP1):c.369A>C (p.Gly123=)
|
|
|
NM_000507.4(FBP1):c.381C>T (p.Ile127=)
|
|
|
NM_000507.4(FBP1):c.390T>C (p.Leu130=)
|
|
|
NM_000507.4(FBP1):c.392del (p.Val131fs)
|
rs2131486442
|
|
NM_000507.4(FBP1):c.396C>A (p.Ser132=)
|
|
|
NM_000507.4(FBP1):c.396C>T (p.Ser132=)
|
|
|
NM_000507.4(FBP1):c.39C>A (p.Thr13=)
|
|
|
NM_000507.4(FBP1):c.39C>T (p.Thr13=)
|
|
|
NM_000507.4(FBP1):c.405C>T (p.Thr135=)
|
|
|
NM_000507.4(FBP1):c.420T>C (p.Tyr140=)
|
|
|
NM_000507.4(FBP1):c.426+12T>C
|
|
|
NM_000507.4(FBP1):c.426+14T>A
|
|
|
NM_000507.4(FBP1):c.426+14T>C
|
|
|
NM_000507.4(FBP1):c.426+1G>A
|
rs1563983184
|
|
NM_000507.4(FBP1):c.426+1G>T
|
rs1563983184
|
|
NM_000507.4(FBP1):c.426+20G>A
|
|
|
NM_000507.4(FBP1):c.426+7_426+23del
|
|
|
NM_000507.4(FBP1):c.426+8G>A
|
|
|
NM_000507.4(FBP1):c.427-15TCTT[3]
|
|
|
NM_000507.4(FBP1):c.427-2A>G
|
|
|
NM_000507.4(FBP1):c.42G>A (p.Leu14=)
|
|
|
NM_000507.4(FBP1):c.435T>A (p.Thr145=)
|
|
|
NM_000507.4(FBP1):c.450G>A (p.Glu150=)
|
|
|
NM_000507.4(FBP1):c.451A>C (p.Lys151Gln)
|
rs1827760551
|
|
NM_000507.4(FBP1):c.456T>C (p.Asp152=)
|
|
|
NM_000507.4(FBP1):c.468A>G (p.Pro156=)
|
|
|
NM_000507.4(FBP1):c.472C>A (p.Arg158=)
|
|
|
NM_000507.4(FBP1):c.474G>C (p.Arg158=)
|
rs764960075
|
|
NM_000507.4(FBP1):c.477C>T (p.Asn159=)
|
|
|
NM_000507.4(FBP1):c.479T>G (p.Leu160Arg)
|
|
|
NM_000507.4(FBP1):c.489C>T (p.Ala163=)
|
|
|
NM_000507.4(FBP1):c.498A>C (p.Ala166=)
|
rs778151034
|
|
NM_000507.4(FBP1):c.501G>A (p.Leu167=)
|
|
|
NM_000507.4(FBP1):c.504T>A (p.Tyr168Ter)
|
|
|
NM_000507.4(FBP1):c.504T>C (p.Tyr168=)
|
|
|
NM_000507.4(FBP1):c.520C>T (p.Leu174=)
|
|
|
NM_000507.4(FBP1):c.527T>G (p.Leu176Arg)
|
|
|
NM_000507.4(FBP1):c.530C>A (p.Ala177Asp)
|
rs121918189
|
|
NM_000507.4(FBP1):c.544del (p.Val182fs)
|
rs1827757538
|
|
NM_000507.4(FBP1):c.559C>T (p.Leu187=)
|
|
|
NM_000507.4(FBP1):c.567+15A>G
|
|
|
NM_000507.4(FBP1):c.567+9C>A
|
|
|
NM_000507.4(FBP1):c.568-13C>T
|
|
|
NM_000507.4(FBP1):c.56dup (p.Met19fs)
|
|
|
NM_000507.4(FBP1):c.573C>T (p.Ile191=)
|
|
|
NM_000507.4(FBP1):c.576G>A (p.Gly192=)
|
|
|
NM_000507.4(FBP1):c.577G>T (p.Glu193Ter)
|
rs1563979243
|
|
NM_000507.4(FBP1):c.581T>C (p.Phe194Ser)
|
rs121918191
|
|
NM_000507.4(FBP1):c.586T>C (p.Leu196=)
|
|
|
NM_000507.4(FBP1):c.597G>A (p.Lys199=)
|
|
|
NM_000507.4(FBP1):c.611_614del (p.Lys204fs)
|
rs761470205
|
|
NM_000507.4(FBP1):c.630C>T (p.Tyr210=)
|
|
|
NM_000507.4(FBP1):c.633C>T (p.Ser211=)
|
|
|
NM_000507.4(FBP1):c.639C>A (p.Asn213Lys)
|
|
|
NM_000507.4(FBP1):c.63G>A (p.Glu21=)
|
|
|
NM_000507.4(FBP1):c.648C>T (p.Tyr216=)
|
|
|
NM_000507.4(FBP1):c.651_653delinsTAA (p.Arg218Lys)
|
|
|
NM_000507.4(FBP1):c.663C>T (p.Asp221=)
|
rs772690496
|
|
NM_000507.4(FBP1):c.669C>T (p.Ala223=)
|
|
|
NM_000507.4(FBP1):c.66C>G (p.Gly22=)
|
|
|
NM_000507.4(FBP1):c.672C>T (p.Val224=)
|
|
|
NM_000507.4(FBP1):c.697T>A (p.Phe233Ile)
|
rs2297085
|
|
NM_000507.4(FBP1):c.697T>C (p.Phe233Leu)
|
rs2297085
|
|
NM_000507.4(FBP1):c.704C>T (p.Pro235Leu)
|
|
|
NM_000507.4(FBP1):c.704del (p.Pro235fs)
|
rs774362519
|
|
NM_000507.4(FBP1):c.705+14C>G
|
|
|
NM_000507.4(FBP1):c.705+15G>A
|
|
|
NM_000507.4(FBP1):c.705+16G>C
|
|
|
NM_000507.4(FBP1):c.705+18G>A
|
|
|
NM_000507.4(FBP1):c.705+20G>A
|
|
|
NM_000507.4(FBP1):c.705+9G>C
|
|
|
NM_000507.4(FBP1):c.706-10T>C
|
|
|
NM_000507.4(FBP1):c.706-11T>A
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NM_000507.4(FBP1):c.706-12C>G
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NM_000507.4(FBP1):c.706-4G>A
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NM_000507.4(FBP1):c.706-9A>C
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NM_000507.4(FBP1):c.720_729del (p.Tyr241fs)
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rs1060499726
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NM_000507.4(FBP1):c.723T>G (p.Tyr241Ter)
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NM_000507.4(FBP1):c.729C>T (p.Ala243=)
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NM_000507.4(FBP1):c.740dup (p.Ser248fs)
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NM_000507.4(FBP1):c.741C>T (p.Gly247=)
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NM_000507.4(FBP1):c.762T>C (p.His254=)
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NM_000507.4(FBP1):c.763C>T (p.Arg255Cys)
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rs944699141
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NM_000507.4(FBP1):c.779del (p.Gly260fs)
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rs1554679825
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NM_000507.4(FBP1):c.801T>C (p.Ala267=)
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NM_000507.4(FBP1):c.81C>T (p.Gly27=)
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NM_000507.4(FBP1):c.825+11C>T
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NM_000507.4(FBP1):c.825+1G>A
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rs111437558
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NM_000507.4(FBP1):c.825+7G>T
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NM_000507.4(FBP1):c.826-12C>T
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NM_000507.4(FBP1):c.826-15G>A
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rs148942437
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NM_000507.4(FBP1):c.826-15G>T
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rs148942437
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NM_000507.4(FBP1):c.826-16C>T
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NM_000507.4(FBP1):c.826-17C>A
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NM_000507.4(FBP1):c.826-22G>A
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rs28369775
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NM_000507.4(FBP1):c.826-7T>C
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rs1827646865
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NM_000507.4(FBP1):c.835C>T (p.Leu279=)
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rs760291471
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NM_000507.4(FBP1):c.837G>A (p.Leu279=)
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NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)
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rs566453434
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NM_000507.4(FBP1):c.841G>T (p.Glu281Ter)
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rs566453434
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NM_000507.4(FBP1):c.846C>A (p.Cys282Ter)
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NM_000507.4(FBP1):c.846C>T (p.Cys282=)
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NM_000507.4(FBP1):c.849C>T (p.Asn283=)
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NM_000507.4(FBP1):c.84G>C (p.Thr28=)
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NM_000507.4(FBP1):c.851C>G (p.Pro284Arg)
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rs121918192
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NM_000507.4(FBP1):c.860_863dup (p.Met289fs)
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NM_000507.4(FBP1):c.861C>T (p.Tyr287=)
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NM_000507.4(FBP1):c.87C>A (p.Gly29=)
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NM_000507.4(FBP1):c.881G>A (p.Gly294Glu)
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NM_000507.4(FBP1):c.881G>T (p.Gly294Val)
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NM_000507.4(FBP1):c.88G>T (p.Glu30Ter)
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rs121918190
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NM_000507.4(FBP1):c.894T>C (p.Thr298=)
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NM_000507.4(FBP1):c.900G>A (p.Lys300=)
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NM_000507.4(FBP1):c.903G>A (p.Glu301=)
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NM_000507.4(FBP1):c.91T>C (p.Leu31=)
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NM_000507.4(FBP1):c.926C>A (p.Thr309Lys)
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NM_000507.4(FBP1):c.945G>A (p.Ala315=)
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NM_000507.4(FBP1):c.948G>A (p.Pro316=)
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NM_000507.4(FBP1):c.951G>T (p.Val317=)
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NM_000507.4(FBP1):c.957G>A (p.Leu319=)
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NM_000507.4(FBP1):c.959_960delinsTG (p.Gly320Val)
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NM_000507.4(FBP1):c.960del (p.Ser321fs)
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NM_000507.4(FBP1):c.960delinsGG (p.Ser321fs)
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rs1057517733
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NM_000507.4(FBP1):c.961dup (p.Ser321fs)
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NM_000507.4(FBP1):c.966C>T (p.Pro322=)
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NM_000507.4(FBP1):c.966del (p.Asp323fs)
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rs747269745
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NM_000507.4(FBP1):c.969C>T (p.Asp323=)
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NM_000507.4(FBP1):c.96C>A (p.Thr32=)
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NM_000507.4(FBP1):c.971A>G (p.Asp324Gly)
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rs1827640590
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NM_000507.4(FBP1):c.972C>T (p.Asp324=)
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NM_000507.4(FBP1):c.978C>G (p.Leu326=)
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NM_000507.4(FBP1):c.981G>A (p.Glu327=)
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NM_000507.4(FBP1):c.984C>T (p.Phe328=)
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NM_000507.4(FBP1):c.985C>A (p.Leu329Met)
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rs2131469421
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NM_000507.4(FBP1):c.986T>C (p.Leu329Pro)
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rs1248299502
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Single allele
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