NM_002225.5(IVD):c.550+57A>G
|
rs4924466
|
0.96250
|
NM_002225.5(IVD):c.688-85A>G
|
rs2289330
|
0.65147
|
NM_002225.5(IVD):c.234+14T>C
|
rs2289331
|
0.62561
|
NM_002225.5(IVD):c.457-120C>T
|
rs8034416
|
0.61186
|
NM_002225.5(IVD):c.1065+41A>G
|
rs11070270
|
0.60848
|
NM_002225.5(IVD):c.*2275T>C
|
rs11790
|
0.59170
|
NM_002225.5(IVD):c.*1471G>A
|
rs4923865
|
0.56828
|
NM_002225.5(IVD):c.*1577C>G
|
rs11630850
|
0.47386
|
NM_002225.5(IVD):c.*808C>G
|
rs2075625
|
0.45103
|
NM_002225.5(IVD):c.*2844T>C
|
rs7207
|
0.45094
|
NM_002225.5(IVD):c.*1610C>T
|
rs11630878
|
0.44933
|
NM_002225.5(IVD):c.688-31T>C
|
rs2289329
|
0.35913
|
NM_002225.5(IVD):c.*261G>A
|
rs2075624
|
0.23369
|
NM_002225.5(IVD):c.723C>T (p.Asp241=)
|
rs2229312
|
0.11757
|
NM_002225.5(IVD):c.*2912G>A
|
rs11557072
|
0.08940
|
NM_002225.5(IVD):c.*596G>A
|
rs115034694
|
0.02695
|
NM_002225.5(IVD):c.*195C>T
|
rs77680513
|
0.02693
|
NM_002225.5(IVD):c.*447C>G
|
rs79191320
|
0.02689
|
NM_002225.5(IVD):c.1066-5C>T
|
rs115077254
|
0.02192
|
NM_002225.5(IVD):c.*14C>T
|
rs8040294
|
0.02023
|
NM_002225.5(IVD):c.*1208G>A
|
rs7165233
|
0.01462
|
NM_002225.5(IVD):c.*2285C>G
|
rs114657778
|
0.01453
|
NM_002225.5(IVD):c.235-18G>A
|
rs78272986
|
0.01081
|
NM_002225.5(IVD):c.-48G>A
|
rs114259808
|
0.01080
|
NM_002225.5(IVD):c.88C>T (p.His30Tyr)
|
rs73383128
|
0.00938
|
NM_002225.3(IVD):c.-79C>G
|
rs574064968
|
0.00526
|
NM_002225.5(IVD):c.*2630G>A
|
rs28654574
|
0.00497
|
NM_002225.5(IVD):c.551-18C>T
|
rs142064071
|
0.00363
|
NM_002225.5(IVD):c.*2850A>G
|
rs147367220
|
0.00311
|
NM_002225.5(IVD):c.235-19T>C
|
rs144063157
|
0.00186
|
NM_002225.5(IVD):c.11C>T (p.Ala4Val)
|
rs148189323
|
0.00157
|
NM_002225.5(IVD):c.*131G>A
|
rs190115786
|
0.00135
|
NM_002225.5(IVD):c.*1240T>A
|
rs146819701
|
0.00099
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
NM_002225.5(IVD):c.*1376G>A
|
rs536344215
|
0.00081
|
NM_002225.5(IVD):c.228C>T (p.Asn76=)
|
rs140098686
|
0.00078
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
NM_002225.5(IVD):c.891G>A (p.Ala297=)
|
rs138427412
|
0.00069
|
NM_002225.5(IVD):c.*290dup
|
rs529793013
|
0.00067
|
NM_002225.5(IVD):c.*2235G>A
|
rs189359145
|
0.00065
|
NM_002225.5(IVD):c.*2070C>T
|
rs187887699
|
0.00062
|
NM_002225.5(IVD):c.229C>T (p.Leu77=)
|
rs143807229
|
0.00032
|
NM_002225.5(IVD):c.*1005T>C
|
rs560096869
|
0.00031
|
NM_002225.5(IVD):c.*287C>T
|
rs565064447
|
0.00031
|
NM_002225.5(IVD):c.961-6G>A
|
rs199783007
|
0.00030
|
NM_002225.5(IVD):c.400A>G (p.Ile134Val)
|
rs151118565
|
0.00026
|
NM_002225.5(IVD):c.916C>G (p.Leu306Val)
|
rs144418134
|
0.00026
|
NM_002225.5(IVD):c.234+16C>T
|
rs750473075
|
0.00025
|
NM_002225.5(IVD):c.234+9G>A
|
rs369931477
|
0.00025
|
NM_002225.5(IVD):c.408G>C (p.Gln136His)
|
rs569537063
|
0.00021
|
NM_002225.5(IVD):c.597C>T (p.Gly199=)
|
rs754418427
|
0.00020
|
NM_002225.5(IVD):c.*805G>A
|
rs183425220
|
0.00019
|
NM_002225.5(IVD):c.38C>T (p.Ala13Val)
|
rs189587579
|
0.00018
|
NM_002225.5(IVD):c.*1313C>G
|
rs550652153
|
0.00014
|
NM_002225.5(IVD):c.*1839C>G
|
rs186670312
|
0.00014
|
NM_002225.5(IVD):c.879-5G>A
|
rs750569823
|
0.00014
|
NM_002225.5(IVD):c.*566A>T
|
rs549510775
|
0.00013
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
0.00013
|
NM_002225.5(IVD):c.*2001G>A
|
rs185013442
|
0.00011
|
NM_002225.5(IVD):c.961T>C (p.Leu321=)
|
rs146011049
|
0.00011
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
NM_002225.5(IVD):c.*123G>A
|
rs536728525
|
0.00009
|
NM_002225.5(IVD):c.*2205C>T
|
rs185128282
|
0.00009
|
NM_002225.5(IVD):c.1139-9T>C
|
rs373295135
|
0.00009
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
NM_002225.5(IVD):c.903C>T (p.His301=)
|
rs759116078
|
0.00007
|
NM_002225.5(IVD):c.234+13G>A
|
rs762088213
|
0.00006
|
NM_002225.5(IVD):c.286+8T>C
|
rs769702849
|
0.00006
|
NM_002225.5(IVD):c.490A>G (p.Met164Val)
|
rs574434706
|
0.00006
|
NM_002225.5(IVD):c.784+13G>A
|
rs369694967
|
0.00006
|
NM_002225.5(IVD):c.*1172C>T
|
rs532691940
|
0.00005
|
NM_002225.5(IVD):c.*1884G>A
|
rs1325854341
|
0.00005
|
NM_002225.5(IVD):c.111T>C (p.Asp37=)
|
rs887220079
|
0.00005
|
NM_002225.5(IVD):c.1122C>T (p.Asp374=)
|
rs372504234
|
0.00005
|
NM_002225.5(IVD):c.303C>T (p.Ser101=)
|
rs749482459
|
0.00005
|
NM_002225.5(IVD):c.816T>C (p.Gly272=)
|
rs753508865
|
0.00005
|
NM_002225.5(IVD):c.832A>C (p.Ser278Arg)
|
rs552272986
|
0.00005
|
NM_002225.5(IVD):c.*338G>A
|
rs879231133
|
0.00004
|
NM_002225.5(IVD):c.*611T>G
|
rs886051130
|
0.00004
|
NM_002225.5(IVD):c.1005G>A (p.Ala335=)
|
rs570369496
|
0.00004
|
NM_002225.5(IVD):c.1041C>T (p.Cys347=)
|
rs371770434
|
0.00004
|
NM_002225.5(IVD):c.1124G>A (p.Gly375Asp)
|
rs769261274
|
0.00004
|
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys)
|
rs371427844
|
0.00004
|
NM_002225.5(IVD):c.1232G>A (p.Arg411Gln)
|
rs143348838
|
0.00004
|
NM_002225.5(IVD):c.1243G>A (p.Gly415Ser)
|
rs150855952
|
0.00004
|
NM_002225.5(IVD):c.287-1G>A
|
rs1398838997
|
0.00004
|
NM_002225.5(IVD):c.52C>T (p.Arg18Trp)
|
rs375138989
|
0.00004
|
NM_002225.5(IVD):c.784+20G>A
|
rs375795386
|
0.00004
|
NM_002225.3(IVD):c.-237G>C
|
rs749128466
|
0.00003
|
NM_002225.5(IVD):c.*699G>A
|
rs1039225701
|
0.00003
|
NM_002225.5(IVD):c.1001T>C (p.Met334Thr)
|
rs368041528
|
0.00003
|
NM_002225.5(IVD):c.1066-10C>T
|
rs774472099
|
0.00003
|
NM_002225.5(IVD):c.1066-4G>A
|
rs374193700
|
0.00003
|
NM_002225.5(IVD):c.1139-8G>C
|
rs755640305
|
0.00003
|
NM_002225.5(IVD):c.1175G>A (p.Arg392His)
|
rs982218848
|
0.00003
|
NM_002225.5(IVD):c.1183C>G (p.Arg395Gly)
|
rs398123681
|
0.00003
|
NM_002225.5(IVD):c.264C>T (p.Gly88=)
|
rs377199313
|
0.00003
|
NM_002225.5(IVD):c.334A>T (p.Met112Leu)
|
rs772021923
|
0.00003
|
NM_002225.5(IVD):c.576C>T (p.Asn192=)
|
rs756184085
|
0.00003
|
NM_002225.5(IVD):c.609C>T (p.Asp203=)
|
rs563452741
|
0.00003
|
NM_002225.5(IVD):c.785-9T>C
|
rs374999241
|
0.00003
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
0.00003
|
NM_002225.5(IVD):c.873T>C (p.Pro291=)
|
rs537402391
|
0.00003
|
NM_002225.5(IVD):c.895C>G (p.Leu299Val)
|
rs149247895
|
0.00003
|
NM_002225.5(IVD):c.960+8G>A
|
rs531429598
|
0.00003
|
NM_002225.5(IVD):c.*112G>T
|
rs558721558
|
0.00002
|
NM_002225.5(IVD):c.-8T>C
|
rs566691073
|
0.00002
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
0.00002
|
NM_002225.5(IVD):c.1123G>A (p.Gly375Ser)
|
rs544110604
|
0.00002
|
NM_002225.5(IVD):c.1138+13C>T
|
rs770658726
|
0.00002
|
NM_002225.5(IVD):c.1138+9T>G
|
rs749171166
|
0.00002
|
NM_002225.5(IVD):c.1215G>A (p.Gly405=)
|
rs752374036
|
0.00002
|
NM_002225.5(IVD):c.205G>A (p.Asp69Asn)
|
rs747273828
|
0.00002
|
NM_002225.5(IVD):c.219G>A (p.Glu73=)
|
rs748950739
|
0.00002
|
NM_002225.5(IVD):c.22C>T (p.Leu8=)
|
rs773816252
|
0.00002
|
NM_002225.5(IVD):c.268T>A (p.Leu90Met)
|
rs780854004
|
0.00002
|
NM_002225.5(IVD):c.357C>T (p.Ser119=)
|
rs776924775
|
0.00002
|
NM_002225.5(IVD):c.483C>T (p.Ala161=)
|
rs751760095
|
0.00002
|
NM_002225.5(IVD):c.534C>A (p.Leu178=)
|
rs775318094
|
0.00002
|
NM_002225.5(IVD):c.540G>A (p.Ala180=)
|
rs775944806
|
0.00002
|
NM_002225.5(IVD):c.596G>T (p.Gly199Val)
|
rs121434285
|
0.00002
|
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
|
rs568885234
|
0.00002
|
NM_002225.5(IVD):c.897G>A (p.Leu299=)
|
rs751049911
|
0.00002
|
NM_002225.5(IVD):c.9T>C (p.Thr3=)
|
rs370886046
|
0.00002
|
NM_002225.3(IVD):c.-315C>G
|
rs886051126
|
0.00001
|
NM_002225.5(IVD):c.*1090A>G
|
rs1257277262
|
0.00001
|
NM_002225.5(IVD):c.*1117G>A
|
rs886051132
|
0.00001
|
NM_002225.5(IVD):c.*1636G>A
|
rs560135738
|
0.00001
|
NM_002225.5(IVD):c.*196G>A
|
rs1417892978
|
0.00001
|
NM_002225.5(IVD):c.*2005G>A
|
rs886051135
|
0.00001
|
NM_002225.5(IVD):c.*204T>G
|
rs886051127
|
0.00001
|
NM_002225.5(IVD):c.*652C>T
|
rs761306144
|
0.00001
|
NM_002225.5(IVD):c.*798A>G
|
rs1278287842
|
0.00001
|
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp)
|
rs776608445
|
0.00001
|
NM_002225.5(IVD):c.1010G>A (p.Arg337Gln)
|
rs139908696
|
0.00001
|
NM_002225.5(IVD):c.1014G>A (p.Gln338=)
|
rs1891648588
|
0.00001
|
NM_002225.5(IVD):c.1026T>C (p.Asn342=)
|
rs1401482066
|
0.00001
|
NM_002225.5(IVD):c.1053T>C (p.His351=)
|
rs763091729
|
0.00001
|
NM_002225.5(IVD):c.1108C>T (p.Gln370Ter)
|
rs368705240
|
0.00001
|
NM_002225.5(IVD):c.1112T>C (p.Val371Ala)
|
rs754600862
|
0.00001
|
NM_002225.5(IVD):c.1138+1G>A
|
rs1193235415
|
0.00001
|
NM_002225.5(IVD):c.1139-3C>G
|
rs367891946
|
0.00001
|
NM_002225.5(IVD):c.1146T>C (p.Asn382=)
|
rs1419468231
|
0.00001
|
NM_002225.5(IVD):c.1160A>G (p.Asp387Gly)
|
rs1163816425
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_002225.5(IVD):c.1185A>G (p.Arg395=)
|
rs375709475
|
0.00001
|
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
|
rs773560012
|
0.00001
|
NM_002225.5(IVD):c.1205T>C (p.Ile402Thr)
|
rs763422682
|
0.00001
|
NM_002225.5(IVD):c.1206del (p.Ile402fs)
|
rs1595797766
|
0.00001
|
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)
|
rs1237032588
|
0.00001
|
NM_002225.5(IVD):c.123G>C (p.Gly41=)
|
rs139179135
|
0.00001
|
NM_002225.5(IVD):c.124C>G (p.Leu42Val)
|
rs777674887
|
0.00001
|
NM_002225.5(IVD):c.145-5A>G
|
rs746358275
|
0.00001
|
NM_002225.5(IVD):c.149G>A (p.Arg50His)
|
rs2229311
|
0.00001
|
NM_002225.5(IVD):c.150T>A (p.Arg50=)
|
rs762440985
|
0.00001
|
NM_002225.5(IVD):c.202A>G (p.Ile68Val)
|
rs758926864
|
0.00001
|
NM_002225.5(IVD):c.204C>T (p.Ile68=)
|
rs780579571
|
0.00001
|
NM_002225.5(IVD):c.227A>G (p.Asn76Ser)
|
rs1398705262
|
0.00001
|
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)
|
rs765815516
|
0.00001
|
NM_002225.5(IVD):c.235-8G>A
|
rs1035492488
|
0.00001
|
NM_002225.5(IVD):c.252G>A (p.Leu84=)
|
rs756466515
|
0.00001
|
NM_002225.5(IVD):c.263G>A (p.Gly88Asp)
|
rs779579351
|
0.00001
|
NM_002225.5(IVD):c.27G>T (p.Gly9=)
|
rs760413553
|
0.00001
|
NM_002225.5(IVD):c.286+2T>C
|
rs748026507
|
0.00001
|
NM_002225.5(IVD):c.297C>T (p.Gly99=)
|
rs377129112
|
0.00001
|
NM_002225.5(IVD):c.307C>G (p.Leu103Val)
|
rs1465206137
|
0.00001
|
NM_002225.5(IVD):c.330G>A (p.Leu110=)
|
rs746017260
|
0.00001
|
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)
|
rs776015412
|
0.00001
|
NM_002225.5(IVD):c.372C>T (p.Leu124=)
|
rs964820890
|
0.00001
|
NM_002225.5(IVD):c.381del (p.Ala128fs)
|
rs769048174
|
0.00001
|
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
|
rs398123682
|
0.00001
|
NM_002225.5(IVD):c.436A>G (p.Lys146Glu)
|
rs1448656950
|
0.00001
|
NM_002225.5(IVD):c.453G>A (p.Pro151=)
|
rs535261722
|
0.00001
|
NM_002225.5(IVD):c.456+2T>C
|
rs398123683
|
0.00001
|
NM_002225.5(IVD):c.456G>A (p.Lys152=)
|
rs886044117
|
0.00001
|
NM_002225.5(IVD):c.457-9T>C
|
rs1418302146
|
0.00001
|
NM_002225.5(IVD):c.464G>A (p.Ser155Asn)
|
rs140182461
|
0.00001
|
NM_002225.5(IVD):c.474C>T (p.Tyr158=)
|
rs1033930341
|
0.00001
|
NM_002225.5(IVD):c.477C>T (p.Ile159=)
|
rs758187120
|
0.00001
|
NM_002225.5(IVD):c.486G>A (p.Leu162=)
|
rs755094829
|
0.00001
|
NM_002225.5(IVD):c.498del (p.Glu166fs)
|
rs398123684
|
0.00001
|
NM_002225.5(IVD):c.539C>T (p.Ala180Val)
|
rs559732306
|
0.00001
|
NM_002225.5(IVD):c.57G>A (p.Pro19=)
|
rs1277276427
|
0.00001
|
NM_002225.5(IVD):c.666C>T (p.Ile222=)
|
rs772662373
|
0.00001
|
NM_002225.5(IVD):c.675C>T (p.Phe225=)
|
rs749242305
|
0.00001
|
NM_002225.5(IVD):c.690T>C (p.Gly230=)
|
rs1182189552
|
0.00001
|
NM_002225.5(IVD):c.710C>T (p.Ser237Phe)
|
rs1891244554
|
0.00001
|
NM_002225.5(IVD):c.726G>C (p.Lys242Asn)
|
rs794727857
|
0.00001
|
NM_002225.5(IVD):c.759A>T (p.Leu253=)
|
rs1237759561
|
0.00001
|
NM_002225.5(IVD):c.784+12C>T
|
rs572858305
|
0.00001
|
NM_002225.5(IVD):c.784+1G>A
|
rs763471771
|
0.00001
|
NM_002225.5(IVD):c.784+9C>T
|
rs1891254953
|
0.00001
|
NM_002225.5(IVD):c.785-4G>A
|
rs369133260
|
0.00001
|
NM_002225.5(IVD):c.796C>G (p.Leu266Val)
|
rs766980574
|
0.00001
|
NM_002225.5(IVD):c.798G>C (p.Leu266=)
|
rs1263112437
|
0.00001
|
NM_002225.5(IVD):c.803A>G (p.His268Arg)
|
rs201778625
|
0.00001
|
NM_002225.5(IVD):c.81G>A (p.Gln27=)
|
rs898534021
|
0.00001
|
NM_002225.5(IVD):c.822C>T (p.Tyr274=)
|
rs375580399
|
0.00001
|
NM_002225.5(IVD):c.833G>C (p.Ser278Thr)
|
rs746615207
|
0.00001
|
NM_002225.5(IVD):c.864C>T (p.Ala288=)
|
rs1566939786
|
0.00001
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
0.00001
|
NM_002225.5(IVD):c.948C>T (p.Ile316=)
|
rs754100750
|
0.00001
|
NM_002225.5(IVD):c.960+7C>T
|
rs113361784
|
0.00001
|
NM_002225.5(IVD):c.972G>A (p.Gly324=)
|
rs748522492
|
0.00001
|
NM_002225.5(IVD):c.994C>T (p.Arg332Cys)
|
rs1891643589
|
0.00001
|
NC_000015.10:g.(?_40412971)_(40418283_?)del
|
|
|
NC_000015.10:g.(?_40413063)_(40414126_?)del
|
|
|
NC_000015.10:g.(?_40416058)_(40418283_?)del
|
|
|
NC_000015.10:g.(?_40416068)_(40418273_?)del
|
|
|
NC_000015.9:g.(?_40698000)_(40700209_?)del
|
|
|
NC_000015.9:g.(?_40698010)_(40698182_?)del
|
|
|
NC_000015.9:g.(?_40698010)_(40710472_?)del
|
|
|
NC_000015.9:g.(?_40699827)_(40710472_?)del
|
|
|
NC_000015.9:g.(?_40702817)_(40708571_?)del
|
|
|
NM_002225.5(IVD):c.*1213A>T
|
rs886051133
|
|
NM_002225.5(IVD):c.*1245C>T
|
rs974616361
|
|
NM_002225.5(IVD):c.*1890G>C
|
rs12185076
|
|
NM_002225.5(IVD):c.*1893del
|
rs398026948
|
|
NM_002225.5(IVD):c.*1898G>A
|
rs886051134
|
|
NM_002225.5(IVD):c.*1944C>T
|
rs910131258
|
|
NM_002225.5(IVD):c.*1984G>C
|
rs969539454
|
|
NM_002225.5(IVD):c.*2125A>C
|
rs1048450160
|
|
NM_002225.5(IVD):c.*2302G>A
|
rs886051136
|
|
NM_002225.5(IVD):c.*2389C>T
|
rs1892216503
|
|
NM_002225.5(IVD):c.*2494C>G
|
rs781683880
|
|
NM_002225.5(IVD):c.*2494C>T
|
rs781683880
|
|
NM_002225.5(IVD):c.*2559G>A
|
rs532233403
|
|
NM_002225.5(IVD):c.*2883T>A
|
rs181699798
|
|
NM_002225.5(IVD):c.*2960C>T
|
rs926243484
|
|
NM_002225.5(IVD):c.*3036A>C
|
rs913379191
|
|
NM_002225.5(IVD):c.*3036del
|
rs5812161
|
|
NM_002225.5(IVD):c.*387del
|
rs145781896
|
|
NM_002225.5(IVD):c.*566A>G
|
rs549510775
|
|
NM_002225.5(IVD):c.*568A>T
|
rs1891996350
|
|
NM_002225.5(IVD):c.*787T>C
|
rs1892021365
|
|
NM_002225.5(IVD):c.*809G>A
|
rs886051131
|
|
NM_002225.5(IVD):c.*822G>T
|
rs373923824
|
|
NM_002225.5(IVD):c.*825C>A
|
rs7182052
|
|
NM_002225.5(IVD):c.-4A>G
|
rs2141288785
|
|
NM_002225.5(IVD):c.-8T>G
|
rs566691073
|
|
NM_002225.5(IVD):c.1005G>C (p.Ala335=)
|
rs570369496
|
|
NM_002225.5(IVD):c.1007G>A (p.Cys336Tyr)
|
|
|
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly)
|
rs776608445
|
|
NM_002225.5(IVD):c.1023C>T (p.Tyr341=)
|
rs2141360315
|
|
NM_002225.5(IVD):c.1025A>G (p.Asn342Ser)
|
|
|
NM_002225.5(IVD):c.1029C>T (p.Val343=)
|
rs896815486
|
|
NM_002225.5(IVD):c.102C>G (p.Pro34=)
|
rs2141289869
|
|
NM_002225.5(IVD):c.102C>T (p.Pro34=)
|
|
|
NM_002225.5(IVD):c.102_103del (p.Val35fs)
|
rs1057517379
|
|
NM_002225.5(IVD):c.1030G>A (p.Ala344Thr)
|
|
|
NM_002225.5(IVD):c.1044T>C (p.Asp348=)
|
rs2141360469
|
|
NM_002225.5(IVD):c.1059T>C (p.Thr353=)
|
rs2141360637
|
|
NM_002225.5(IVD):c.1065+11G>C
|
|
|
NM_002225.5(IVD):c.1065+13C>T
|
|
|
NM_002225.5(IVD):c.1065+16A>C
|
|
|
NM_002225.5(IVD):c.1065+19C>T
|
|
|
NM_002225.5(IVD):c.1065+20G>A
|
|
|
NM_002225.5(IVD):c.1065+7G>A
|
rs1238566157
|
|
NM_002225.5(IVD):c.1065G>C (p.Lys355Asn)
|
rs910454086
|
|
NM_002225.5(IVD):c.1066-18C>G
|
|
|
NM_002225.5(IVD):c.1066-18C>T
|
|
|
NM_002225.5(IVD):c.1066-19C>T
|
|
|
NM_002225.5(IVD):c.1066-20A>G
|
|
|
NM_002225.5(IVD):c.1066-4G>T
|
|
|
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)
|
rs398123679
|
|
NM_002225.5(IVD):c.1066del
|
|
|
NM_002225.5(IVD):c.1071T>G (p.Cys357Trp)
|
|
|
NM_002225.5(IVD):c.1071_1072del (p.Ala358fs)
|
rs1891674455
|
|
NM_002225.5(IVD):c.107A>G (p.Asp36Gly)
|
rs2141289941
|
|
NM_002225.5(IVD):c.1080G>T (p.Val360=)
|
|
|
NM_002225.5(IVD):c.1087dup (p.Tyr363fs)
|
|
|
NM_002225.5(IVD):c.1088A>T (p.Tyr363Phe)
|
|
|
NM_002225.5(IVD):c.1092A>G (p.Ser364=)
|
rs2141361852
|
|
NM_002225.5(IVD):c.1092A>T (p.Ser364=)
|
|
|
NM_002225.5(IVD):c.1095T>C (p.Ala365=)
|
rs1595790601
|
|
NM_002225.5(IVD):c.109G>A (p.Asp37Asn)
|
rs2141289961
|
|
NM_002225.5(IVD):c.1104C>T (p.Ala368=)
|
rs1050218
|
|
NM_002225.5(IVD):c.1107A>C (p.Thr369=)
|
|
|
NM_002225.5(IVD):c.1107A>G (p.Thr369=)
|
rs1286789645
|
|
NM_002225.5(IVD):c.1110G>A (p.Gln370=)
|
|
|
NM_002225.5(IVD):c.1119G>A (p.Leu373=)
|
rs1891680267
|
|
NM_002225.5(IVD):c.1120G>A (p.Asp374Asn)
|
rs1566941619
|
|
NM_002225.5(IVD):c.1136T>C (p.Phe379Ser)
|
rs1469021843
|
|
NM_002225.5(IVD):c.1138+10C>A
|
|
|
NM_002225.5(IVD):c.1138+13C>A
|
|
|
NM_002225.5(IVD):c.1138+14A>C
|
|
|
NM_002225.5(IVD):c.1138+19C>G
|
|
|
NM_002225.5(IVD):c.1138+20C>T
|
|
|
NM_002225.5(IVD):c.1138G>C (p.Gly380Arg)
|
rs1891683650
|
|
NM_002225.5(IVD):c.1139-10C>G
|
|
|
NM_002225.5(IVD):c.1139-11C>A
|
|
|
NM_002225.5(IVD):c.1139-11C>G
|
|
|
NM_002225.5(IVD):c.1139-12C>T
|
|
|
NM_002225.5(IVD):c.1139-16C>T
|
|
|
NM_002225.5(IVD):c.1139-18C>T
|
|
|
NM_002225.5(IVD):c.1139-19G>T
|
|
|
NM_002225.5(IVD):c.1139-20T>C
|
|
|
NM_002225.5(IVD):c.1139-4G>A
|
|
|
NM_002225.5(IVD):c.1139-5T>G
|
|
|
NM_002225.5(IVD):c.1139-7G>A
|
rs2141373271
|
|
NM_002225.5(IVD):c.1140del (p.Gly381fs)
|
|
|
NM_002225.5(IVD):c.114A>G (p.Ala38=)
|
|
|
NM_002225.5(IVD):c.1155C>A (p.Ile385=)
|
|
|
NM_002225.5(IVD):c.1155C>T (p.Ile385=)
|
|
|
NM_002225.5(IVD):c.1165C>A (p.Pro389Thr)
|
|
|
NM_002225.5(IVD):c.1167C>T (p.Pro389=)
|
rs2141373519
|
|
NM_002225.5(IVD):c.1179del (p.Leu394fs)
|
rs786204613
|
|
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
|
rs398123681
|
|
NM_002225.5(IVD):c.1186G>C (p.Asp396His)
|
|
|
NM_002225.5(IVD):c.1188T>C (p.Asp396=)
|
|
|
NM_002225.5(IVD):c.1197G>A (p.Leu399=)
|
|
|
NM_002225.5(IVD):c.1204_1210del (p.Ile402fs)
|
|
|
NM_002225.5(IVD):c.1206A>G (p.Ile402Met)
|
|
|
NM_002225.5(IVD):c.1208_1230dup (p.Arg411delinsGlyLeuGlyProAlaArgTer)
|
|
|
NM_002225.5(IVD):c.120T>C (p.Asn40=)
|
|
|
NM_002225.5(IVD):c.1212T>G (p.Ala404=)
|
|
|
NM_002225.5(IVD):c.1221C>T (p.Ser407=)
|
|
|
NM_002225.5(IVD):c.1222G>A (p.Glu408Lys)
|
rs755693286
|
|
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)
|
rs1555405428
|
|
NM_002225.5(IVD):c.122G>A (p.Gly41Glu)
|
rs2141290050
|
|
NM_002225.5(IVD):c.1242C>A (p.Ile414=)
|
|
|
NM_002225.5(IVD):c.1242C>G (p.Ile414Met)
|
|
|
NM_002225.5(IVD):c.1242C>T (p.Ile414=)
|
rs756694379
|
|
NM_002225.5(IVD):c.124C>T (p.Leu42=)
|
|
|
NM_002225.5(IVD):c.125T>A (p.Leu42Gln)
|
rs121434284
|
|
NM_002225.5(IVD):c.125T>G (p.Leu42Arg)
|
rs121434284
|
|
NM_002225.5(IVD):c.126A>C (p.Leu42=)
|
|
|
NM_002225.5(IVD):c.126A>G (p.Leu42=)
|
|
|
NM_002225.5(IVD):c.127dup (p.Ser43fs)
|
|
|
NM_002225.5(IVD):c.129C>A (p.Ser43Arg)
|
rs918899977
|
|
NM_002225.5(IVD):c.12G>C (p.Ala4=)
|
|
|
NM_002225.5(IVD):c.133G>A (p.Glu45Lys)
|
rs1890355188
|
|
NM_002225.5(IVD):c.137A>G (p.Gln46Arg)
|
rs1890355492
|
|
NM_002225.5(IVD):c.142C>G (p.Gln48Glu)
|
rs771280106
|
|
NM_002225.5(IVD):c.144+10C>G
|
rs2141290384
|
|
NM_002225.5(IVD):c.144+15C>T
|
|
|
NM_002225.5(IVD):c.144+17C>T
|
|
|
NM_002225.5(IVD):c.144+18C>T
|
|
|
NM_002225.5(IVD):c.144+1G>A
|
rs928991928
|
|
NM_002225.5(IVD):c.144+1G>C
|
|
|
NM_002225.5(IVD):c.144+20del
|
|
|
NM_002225.5(IVD):c.144+7A>C
|
rs1595750832
|
|
NM_002225.5(IVD):c.144+8G>A
|
rs1248918125
|
|
NM_002225.5(IVD):c.145-10C>T
|
rs1451681639
|
|
NM_002225.5(IVD):c.145-14C>T
|
|
|
NM_002225.5(IVD):c.145-19T>C
|
|
|
NM_002225.5(IVD):c.145-2A>T
|
|
|
NM_002225.5(IVD):c.145-7C>T
|
rs2141301246
|
|
NM_002225.5(IVD):c.145-8C>G
|
|
|
NM_002225.5(IVD):c.145-8C>T
|
rs1890586123
|
|
NM_002225.5(IVD):c.145-9T>C
|
|
|
NM_002225.5(IVD):c.147T>C (p.Leu49=)
|
rs2141301309
|
|
NM_002225.5(IVD):c.148C>G (p.Arg50Gly)
|
rs34695403
|
|
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
|
rs34695403
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
NM_002225.5(IVD):c.149G>T (p.Arg50Leu)
|
|
|
NM_002225.5(IVD):c.150del (p.Gln51fs)
|
rs2141301396
|
|
NM_002225.5(IVD):c.156C>G (p.Thr52=)
|
rs2141301442
|
|
NM_002225.5(IVD):c.157_160dup (p.Ala54fs)
|
rs1555403211
|
|
NM_002225.5(IVD):c.158T>C (p.Met53Thr)
|
rs1890589984
|
|
NM_002225.5(IVD):c.15T>C (p.Thr5=)
|
rs2141289023
|
|
NM_002225.5(IVD):c.162T>C (p.Ala54=)
|
|
|
NM_002225.5(IVD):c.163A>T (p.Lys55Ter)
|
|
|
NM_002225.5(IVD):c.174G>A (p.Gln58=)
|
rs2141301579
|
|
NM_002225.5(IVD):c.177G>A (p.Glu59=)
|
|
|
NM_002225.5(IVD):c.179A>C (p.His60Pro)
|
|
|
NM_002225.5(IVD):c.17G>A (p.Arg6Gln)
|
rs748160492
|
|
NM_002225.5(IVD):c.181C>T (p.Leu61=)
|
|
|
NM_002225.5(IVD):c.195C>T (p.Ala65=)
|
rs764288165
|
|
NM_002225.5(IVD):c.199G>T (p.Glu67Ter)
|
rs199865931
|
|
NM_002225.5(IVD):c.204C>A (p.Ile68=)
|
|
|
NM_002225.5(IVD):c.215A>G (p.Asn72Ser)
|
|
|
NM_002225.5(IVD):c.225G>A (p.Lys75=)
|
rs1018215813
|
|
NM_002225.5(IVD):c.225del (p.Asn76fs)
|
rs2141302044
|
|
NM_002225.5(IVD):c.229C>G (p.Leu77Val)
|
|
|
NM_002225.5(IVD):c.232C>A (p.Arg78=)
|
|
|
NM_002225.5(IVD):c.233G>C (p.Arg78Pro)
|
rs771929559
|
|
NM_002225.5(IVD):c.234+10G>A
|
|
|
NM_002225.5(IVD):c.234+10del
|
rs745874056
|
|
NM_002225.5(IVD):c.234+16C>G
|
|
|
NM_002225.5(IVD):c.234+17G>A
|
rs568900608
|
|
NM_002225.5(IVD):c.234+17G>C
|
|
|
NM_002225.5(IVD):c.234+25_234+34dup
|
|
|
NM_002225.5(IVD):c.235-13A>G
|
|
|
NM_002225.5(IVD):c.235-15C>T
|
|
|
NM_002225.5(IVD):c.235-1G>A
|
|
|
NM_002225.5(IVD):c.235-20C>T
|
|
|
NM_002225.5(IVD):c.235-5G>C
|
|
|
NM_002225.5(IVD):c.242G>A (p.Trp81Ter)
|
rs767782379
|
|
NM_002225.5(IVD):c.243G>A (p.Trp81Ter)
|
rs540375168
|
|
NM_002225.5(IVD):c.254G>A (p.Gly85Glu)
|
rs2141304438
|
|
NM_002225.5(IVD):c.255G>A (p.Gly85=)
|
rs778593528
|
|
NM_002225.5(IVD):c.259del (p.Leu87fs)
|
|
|
NM_002225.5(IVD):c.25G>T (p.Gly9Trp)
|
|
|
NM_002225.5(IVD):c.263del (p.Gly88fs)
|
|
|
NM_002225.5(IVD):c.264C>A (p.Gly88=)
|
rs377199313
|
|
NM_002225.5(IVD):c.264C>G (p.Gly88=)
|
|
|
NM_002225.5(IVD):c.265G>A (p.Val89Ile)
|
|
|
NM_002225.5(IVD):c.267A>G (p.Val89=)
|
|
|
NM_002225.5(IVD):c.268T>C (p.Leu90=)
|
|
|
NM_002225.5(IVD):c.270G>A (p.Leu90=)
|
|
|
NM_002225.5(IVD):c.272G>A (p.Gly91Asp)
|
rs1555403365
|
|
NM_002225.5(IVD):c.272del (p.Gly91fs)
|
|
|
NM_002225.5(IVD):c.275_285del (p.Ile92fs)
|
|
|
NM_002225.5(IVD):c.285del (p.Val96fs)
|
|
|
NM_002225.5(IVD):c.286+14C>G
|
|
|
NM_002225.5(IVD):c.286+16_286+17del
|
rs775497134
|
|
NM_002225.5(IVD):c.286+18C>G
|
|
|
NM_002225.5(IVD):c.286+18C>T
|
|
|
NM_002225.5(IVD):c.286+3_286+6dup
|
|
|
NM_002225.5(IVD):c.287-10C>T
|
|
|
NM_002225.5(IVD):c.287-11A>G
|
|
|
NM_002225.5(IVD):c.287-12C>T
|
|
|
NM_002225.5(IVD):c.287-14C>G
|
|
|
NM_002225.5(IVD):c.287-18G>T
|
|
|
NM_002225.5(IVD):c.287-19T>G
|
|
|
NM_002225.5(IVD):c.287-2A>C
|
rs781340220
|
|
NM_002225.5(IVD):c.287-2A>G
|
rs781340220
|
|
NM_002225.5(IVD):c.294T>C (p.Tyr98=)
|
rs2141322944
|
|
NM_002225.5(IVD):c.294T>G (p.Tyr98Ter)
|
|
|
NM_002225.5(IVD):c.297C>A (p.Gly99=)
|
rs377129112
|
|
NM_002225.5(IVD):c.298G>A (p.Gly100Ser)
|
|
|
NM_002225.5(IVD):c.2T>C (p.Met1Thr)
|
|
|
NM_002225.5(IVD):c.300C>A (p.Gly100=)
|
|
|
NM_002225.5(IVD):c.300C>T (p.Gly100=)
|
|
|
NM_002225.5(IVD):c.306C>A (p.Gly102=)
|
rs1890967563
|
|
NM_002225.5(IVD):c.307C>T (p.Leu103=)
|
|
|
NM_002225.5(IVD):c.315C>T (p.Tyr105=)
|
|
|
NM_002225.5(IVD):c.320A>G (p.Glu107Gly)
|
rs2141323321
|
|
NM_002225.5(IVD):c.321G>A (p.Glu107=)
|
rs1448958748
|
|
NM_002225.5(IVD):c.324T>C (p.His108=)
|
|
|
NM_002225.5(IVD):c.327G>A (p.Val109=)
|
|
|
NM_002225.5(IVD):c.339G>A (p.Glu113=)
|
|
|
NM_002225.5(IVD):c.33T>C (p.Arg11=)
|
rs2141289261
|
|
NM_002225.5(IVD):c.34G>A (p.Val12Met)
|
|
|
NM_002225.5(IVD):c.350G>A (p.Arg117Gln)
|
rs145725101
|
|
NM_002225.5(IVD):c.359G>A (p.Gly120Glu)
|
|
|
NM_002225.5(IVD):c.360A>G (p.Gly120=)
|
rs2141323670
|
|
NM_002225.5(IVD):c.363A>T (p.Ala121=)
|
|
|
NM_002225.5(IVD):c.369G>T (p.Gly123=)
|
|
|
NM_002225.5(IVD):c.36G>A (p.Val12=)
|
rs2141289293
|
|
NM_002225.5(IVD):c.376T>C (p.Tyr126His)
|
|
|
NM_002225.5(IVD):c.378C>T (p.Tyr126=)
|
rs1360239245
|
|
NM_002225.5(IVD):c.379G>A (p.Gly127Ser)
|
|
|
NM_002225.5(IVD):c.381T>C (p.Gly127=)
|
rs2141323846
|
|
NM_002225.5(IVD):c.384C>A (p.Ala128=)
|
rs2141323906
|
|
NM_002225.5(IVD):c.387C>T (p.His129=)
|
|
|
NM_002225.5(IVD):c.394del (p.Leu132fs)
|
|
|
NM_002225.5(IVD):c.402C>T (p.Ile134=)
|
|
|
NM_002225.5(IVD):c.415C>T (p.Arg139Cys)
|
rs376324882
|
|
NM_002225.5(IVD):c.417C>T (p.Arg139=)
|
|
|
NM_002225.5(IVD):c.419A>G (p.Asn140Ser)
|
|
|
NM_002225.5(IVD):c.420T>C (p.Asn140=)
|
rs1890984701
|
|
NM_002225.5(IVD):c.426T>C (p.Asn142=)
|
rs1025400393
|
|
NM_002225.5(IVD):c.432C>G (p.Ala144=)
|
rs1213604093
|
|
NM_002225.5(IVD):c.433C>T (p.Gln145Ter)
|
|
|
NM_002225.5(IVD):c.438A>G (p.Lys146=)
|
rs1007239169
|
|
NM_002225.5(IVD):c.439G>T (p.Glu147Ter)
|
|
|
NM_002225.5(IVD):c.442A>T (p.Lys148Ter)
|
|
|
NM_002225.5(IVD):c.444G>A (p.Lys148=)
|
rs768172531
|
|
NM_002225.5(IVD):c.447T>C (p.Tyr149=)
|
|
|
NM_002225.5(IVD):c.44G>A (p.Trp15Ter)
|
rs907414760
|
|
NM_002225.5(IVD):c.452C>G (p.Pro151Arg)
|
|
|
NM_002225.5(IVD):c.456+11G>A
|
|
|
NM_002225.5(IVD):c.456+11G>C
|
|
|
NM_002225.5(IVD):c.456+12G>A
|
|
|
NM_002225.5(IVD):c.456+12G>T
|
|
|
NM_002225.5(IVD):c.456+15A>G
|
|
|
NM_002225.5(IVD):c.456+22_510delinsGTTG
|
rs1555403942
|
|
NM_002225.5(IVD):c.457-12T>C
|
|
|
NM_002225.5(IVD):c.457-16G>A
|
|
|
NM_002225.5(IVD):c.457-19T>C
|
|
|
NM_002225.5(IVD):c.457-1G>A
|
|
|
NM_002225.5(IVD):c.457-20G>A
|
|
|
NM_002225.5(IVD):c.457-20G>T
|
|
|
NM_002225.5(IVD):c.457-2A>C
|
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.457-2A>T
|
rs771914739
|
|
NM_002225.5(IVD):c.457-3C>T
|
|
|
NM_002225.5(IVD):c.457-3_457-2delinsGG
|
rs786204427
|
|
NM_002225.5(IVD):c.457-4G>A
|
rs2141328194
|
|
NM_002225.5(IVD):c.457-7C>T
|
rs2141328172
|
|
NM_002225.5(IVD):c.457C>G (p.Leu153Val)
|
rs763665120
|
|
NM_002225.5(IVD):c.459G>C (p.Leu153=)
|
rs372974651
|
|
NM_002225.5(IVD):c.45del (p.Ser14_Trp15insTer)
|
|
|
NM_002225.5(IVD):c.462C>A (p.Ile154=)
|
|
|
NM_002225.5(IVD):c.464GTG[3] (p.Gly156dup)
|
rs796051982
|
|
NM_002225.5(IVD):c.466G>A (p.Gly156Ser)
|
rs1555404010
|
|
NM_002225.5(IVD):c.467G>C (p.Gly156Ala)
|
rs1221254988
|
|
NM_002225.5(IVD):c.468T>A (p.Gly156=)
|
|
|
NM_002225.5(IVD):c.489C>T (p.Ala163=)
|
|
|
NM_002225.5(IVD):c.48G>C (p.Arg16Ser)
|
|
|
NM_002225.5(IVD):c.491T>C (p.Met164Thr)
|
|
|
NM_002225.5(IVD):c.492G>A (p.Met164Ile)
|
|
|
NM_002225.5(IVD):c.495T>C (p.Ser165=)
|
|
|
NM_002225.5(IVD):c.498G>A (p.Glu166=)
|
rs1891054324
|
|
NM_002225.5(IVD):c.49C>T (p.Leu17=)
|
|
|
NM_002225.5(IVD):c.504T>C (p.Asn168=)
|
rs1472673106
|
|
NM_002225.5(IVD):c.506_507insT (p.Gly170fs)
|
|
|
NM_002225.5(IVD):c.507A>G (p.Ala169=)
|
|
|
NM_002225.5(IVD):c.507A>T (p.Ala169=)
|
|
|
NM_002225.5(IVD):c.513T>C (p.Ser171=)
|
rs2141328958
|
|
NM_002225.5(IVD):c.516TGT[1] (p.Val174del)
|
rs1566936030
|
|
NM_002225.5(IVD):c.521T>G (p.Val174Gly)
|
rs1891058364
|
|
NM_002225.5(IVD):c.522C>G (p.Val174=)
|
|
|
NM_002225.5(IVD):c.525T>C (p.Ser175=)
|
|
|
NM_002225.5(IVD):c.526A>G (p.Met176Val)
|
|
|
NM_002225.5(IVD):c.531G>A (p.Lys177=)
|
rs1891059665
|
|
NM_002225.5(IVD):c.541G>T (p.Glu181Ter)
|
rs2141329244
|
|
NM_002225.5(IVD):c.546_547delinsT (p.Lys182fs)
|
|
|
NM_002225.5(IVD):c.550+10C>G
|
rs762786940
|
|
NM_002225.5(IVD):c.550+10C>T
|
rs762786940
|
|
NM_002225.5(IVD):c.550+17C>T
|
|
|
NM_002225.5(IVD):c.550+18T>G
|
|
|
NM_002225.5(IVD):c.550+19T>G
|
|
|
NM_002225.5(IVD):c.550+6G>A
|
rs1891063818
|
|
NM_002225.5(IVD):c.551-17C>T
|
|
|
NM_002225.5(IVD):c.551-1G>A
|
rs1057517043
|
|
NM_002225.5(IVD):c.551-5C>T
|
rs762840448
|
|
NM_002225.5(IVD):c.561C>T (p.Tyr187=)
|
|
|
NM_002225.5(IVD):c.564C>T (p.Ile188=)
|
rs1171530725
|
|
NM_002225.5(IVD):c.581del (p.Phe194fs)
|
|
|
NM_002225.5(IVD):c.585G>A (p.Trp195Ter)
|
|
|
NM_002225.5(IVD):c.588C>T (p.Ile196=)
|
rs2141331170
|
|
NM_002225.5(IVD):c.591T>C (p.Thr197=)
|
|
|
NM_002225.5(IVD):c.599del (p.Pro200fs)
|
rs1566936542
|
|
NM_002225.5(IVD):c.59C>T (p.Pro20Leu)
|
|
|
NM_002225.5(IVD):c.607G>C (p.Asp203His)
|
rs2141331313
|
|
NM_002225.5(IVD):c.60G>T (p.Pro20=)
|
rs1482549847
|
|
NM_002225.5(IVD):c.612C>T (p.Val204=)
|
|
|
NM_002225.5(IVD):c.613C>T (p.Leu205=)
|
rs1891095620
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
NM_002225.5(IVD):c.61_67del (p.Leu21fs)
|
rs1890343709
|
|
NM_002225.5(IVD):c.623A>G (p.Tyr208Cys)
|
|
|
NM_002225.5(IVD):c.624T>C (p.Tyr208=)
|
rs1267359192
|
|
NM_002225.5(IVD):c.630G>A (p.Lys210=)
|
rs1337743160
|
|
NM_002225.5(IVD):c.631A>G (p.Thr211Ala)
|
|
|
NM_002225.5(IVD):c.633A>C (p.Thr211=)
|
|
|
NM_002225.5(IVD):c.634G>A (p.Asp212Asn)
|
|
|
NM_002225.5(IVD):c.634G>C (p.Asp212His)
|
|
|
NM_002225.5(IVD):c.634_635del (p.Asp212fs)
|
|
|
NM_002225.5(IVD):c.639G>C (p.Leu213=)
|
rs2141331622
|
|
NM_002225.5(IVD):c.640_641del (p.Ala214fs)
|
|
|
NM_002225.5(IVD):c.641C>T (p.Ala214Val)
|
|
|
NM_002225.5(IVD):c.642T>G (p.Ala214=)
|
rs2141331657
|
|
NM_002225.5(IVD):c.646G>A (p.Val216Met)
|
|
|
NM_002225.5(IVD):c.659G>A (p.Arg220Gln)
|
|
|
NM_002225.5(IVD):c.667dup (p.Thr223fs)
|
|
|
NM_002225.5(IVD):c.669dup (p.Ala224fs)
|
|
|
NM_002225.5(IVD):c.66C>G (p.Ala22=)
|
rs2141289538
|
|
NM_002225.5(IVD):c.66C>T (p.Ala22=)
|
|
|
NM_002225.5(IVD):c.671C>A (p.Ala224Asp)
|
|
|
NM_002225.5(IVD):c.678T>G (p.Ile226Met)
|
rs1891104586
|
|
NM_002225.5(IVD):c.681G>A (p.Val227=)
|
|
|
NM_002225.5(IVD):c.685_687+15del
|
rs2141332016
|
|
NM_002225.5(IVD):c.687+1G>C
|
rs2141332035
|
|
NM_002225.5(IVD):c.687+2T>C
|
rs2141332040
|
|
NM_002225.5(IVD):c.687+7_687+16del
|
rs975307399
|
|
NM_002225.5(IVD):c.687+8T>C
|
rs1426896228
|
|
NM_002225.5(IVD):c.687+8T>G
|
rs1426896228
|
|
NM_002225.5(IVD):c.688-13G>A
|
rs2141339742
|
|
NM_002225.5(IVD):c.688-14del
|
rs561133272
|
|
NM_002225.5(IVD):c.688-19C>T
|
|
|
NM_002225.5(IVD):c.688-6G>A
|
rs770402490
|
|
NM_002225.5(IVD):c.688G>T (p.Gly230Cys)
|
|
|
NM_002225.5(IVD):c.693dup (p.Pro232fs)
|
|
|
NM_002225.5(IVD):c.69C>T (p.Gly23=)
|
|
|
NM_002225.5(IVD):c.6G>T (p.Ala2=)
|
|
|
NM_002225.5(IVD):c.708C>G (p.Thr236=)
|
|
|
NM_002225.5(IVD):c.711dup (p.Lys238Ter)
|
rs1555404426
|
|
NM_002225.5(IVD):c.712AAG[1] (p.Lys239del)
|
rs1555404430
|
|
NM_002225.5(IVD):c.715A>T (p.Lys239Ter)
|
|
|
NM_002225.5(IVD):c.717G>A (p.Lys239=)
|
|
|
NM_002225.5(IVD):c.71T>C (p.Phe24Ser)
|
|
|
NM_002225.5(IVD):c.720G>A (p.Leu240=)
|
rs2141340085
|
|
NM_002225.5(IVD):c.721G>A (p.Asp241Asn)
|
rs2141340100
|
|
NM_002225.5(IVD):c.723_724delinsTT (p.Lys242Ter)
|
|
|
NM_002225.5(IVD):c.727C>T (p.Leu243=)
|
|
|
NM_002225.5(IVD):c.72C>T (p.Phe24=)
|
rs1403443551
|
|
NM_002225.5(IVD):c.732G>A (p.Gly244=)
|
|
|
NM_002225.5(IVD):c.738G>A (p.Arg246=)
|
|
|
NM_002225.5(IVD):c.744dup (p.Asn249Ter)
|
rs1057516769
|
|
NM_002225.5(IVD):c.750C>T (p.Thr250=)
|
rs2141340373
|
|
NM_002225.5(IVD):c.761_785-762del
|
|
|
NM_002225.5(IVD):c.762C>A (p.Ile254=)
|
|
|
NM_002225.5(IVD):c.772T>G (p.Cys258Gly)
|
rs2141340538
|
|
NM_002225.5(IVD):c.774C>T (p.Cys258=)
|
|
|
NM_002225.5(IVD):c.784+11C>T
|
|
|
NM_002225.5(IVD):c.784+15G>C
|
|
|
NM_002225.5(IVD):c.784+18del
|
|
|
NM_002225.5(IVD):c.784+19C>T
|
|
|
NM_002225.5(IVD):c.784+7A>T
|
|
|
NM_002225.5(IVD):c.785-19C>T
|
|
|
NM_002225.5(IVD):c.785-1G>A
|
rs1555404784
|
|
NM_002225.5(IVD):c.785-2A>T
|
|
|
NM_002225.5(IVD):c.785-7C>T
|
rs2141351235
|
|
NM_002225.5(IVD):c.785-9del
|
|
|
NM_002225.5(IVD):c.789C>T (p.Ala263=)
|
|
|
NM_002225.5(IVD):c.78C>G (p.Ser26=)
|
|
|
NM_002225.5(IVD):c.792C>T (p.Asn264=)
|
|
|
NM_002225.5(IVD):c.795C>T (p.Ile265=)
|
|
|
NM_002225.5(IVD):c.798G>A (p.Leu266=)
|
|
|
NM_002225.5(IVD):c.804T>C (p.His268=)
|
|
|
NM_002225.5(IVD):c.813G>A (p.Lys271=)
|
rs767825575
|
|
NM_002225.5(IVD):c.813_814insAGACA (p.Gly272fs)
|
|
|
NM_002225.5(IVD):c.817G>A (p.Val273Ile)
|
|
|
NM_002225.5(IVD):c.821A>G (p.Tyr274Cys)
|
|
|
NM_002225.5(IVD):c.822del (p.Val273_Tyr274insTer)
|
|
|
NM_002225.5(IVD):c.823G>A (p.Val275Met)
|
rs757832700
|
|
NM_002225.5(IVD):c.823G>C (p.Val275Leu)
|
rs757832700
|
|
NM_002225.5(IVD):c.832A>G (p.Ser278Gly)
|
|
|
NM_002225.5(IVD):c.837G>A (p.Gly279=)
|
rs754853734
|
|
NM_002225.5(IVD):c.838_841del (p.Leu280fs)
|
rs2141351682
|
|
NM_002225.5(IVD):c.840G>A (p.Leu280=)
|
rs2141351717
|
|
NM_002225.5(IVD):c.841G>A (p.Asp281Asn)
|
|
|
NM_002225.5(IVD):c.844C>T (p.Leu282=)
|
|
|
NM_002225.5(IVD):c.846G>A (p.Leu282=)
|
|
|
NM_002225.5(IVD):c.848A>G (p.Glu283Gly)
|
rs1314850102
|
|
NM_002225.5(IVD):c.84G>C (p.Arg28=)
|
|
|
NM_002225.5(IVD):c.850C>T (p.Arg284Trp)
|
|
|
NM_002225.5(IVD):c.853C>G (p.Leu285Val)
|
|
|
NM_002225.5(IVD):c.864C>G (p.Ala288=)
|
|
|
NM_002225.5(IVD):c.865G>T (p.Gly289Trp)
|
rs568885234
|
|
NM_002225.5(IVD):c.870G>A (p.Gly290=)
|
rs1285915480
|
|
NM_002225.5(IVD):c.870G>T (p.Gly290=)
|
rs1285915480
|
|
NM_002225.5(IVD):c.870del (p.Pro291fs)
|
rs759159766
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
NM_002225.5(IVD):c.875T>C (p.Leu292Pro)
|
rs1555404843
|
|
NM_002225.5(IVD):c.878+15C>G
|
|
|
NM_002225.5(IVD):c.878+1G>A
|
rs745629936
|
|
NM_002225.5(IVD):c.878+2T>C
|
|
|
NM_002225.5(IVD):c.878+7G>A
|
|
|
NM_002225.5(IVD):c.879-12C>T
|
|
|
NM_002225.5(IVD):c.879-19C>T
|
|
|
NM_002225.5(IVD):c.879-5G>C
|
rs750569823
|
|
NM_002225.5(IVD):c.879-7C>T
|
rs2141355100
|
|
NM_002225.5(IVD):c.87C>A (p.Ala29=)
|
|
|
NM_002225.5(IVD):c.87C>G (p.Ala29=)
|
rs751297903
|
|
NM_002225.5(IVD):c.87C>T (p.Ala29=)
|
rs751297903
|
|
NM_002225.5(IVD):c.880C>T (p.Leu294Phe)
|
|
|
NM_002225.5(IVD):c.881T>C (p.Leu294Pro)
|
rs1555404933
|
|
NM_002225.5(IVD):c.882C>G (p.Leu294=)
|
|
|
NM_002225.5(IVD):c.883A>T (p.Met295Leu)
|
rs1595786853
|
|
NM_002225.5(IVD):c.887A>T (p.Gln296Leu)
|
rs1595786862
|
|
NM_002225.5(IVD):c.888A>G (p.Gln296=)
|
|
|
NM_002225.5(IVD):c.891G>T (p.Ala297=)
|
rs138427412
|
|
NM_002225.5(IVD):c.894C>T (p.Val298=)
|
rs1566940284
|
|
NM_002225.5(IVD):c.906C>A (p.Thr302=)
|
rs1891560320
|
|
NM_002225.5(IVD):c.912C>T (p.Pro304=)
|
rs1324916195
|
|
NM_002225.5(IVD):c.919C>T (p.His307Tyr)
|
rs2141355545
|
|
NM_002225.5(IVD):c.921C>T (p.His307=)
|
rs1304408183
|
|
NM_002225.5(IVD):c.928del (p.Glu310fs)
|
|
|
NM_002225.5(IVD):c.930A>G (p.Glu310=)
|
rs1209121749
|
|
NM_002225.5(IVD):c.940C>T (p.Gln314Ter)
|
|
|
NM_002225.5(IVD):c.954C>T (p.His318=)
|
rs1595787254
|
|
NM_002225.5(IVD):c.957C>T (p.Phe319=)
|
rs1197885966
|
|
NM_002225.5(IVD):c.958C>T (p.Gln320Ter)
|
|
|
NM_002225.5(IVD):c.960+1G>A
|
|
|
NM_002225.5(IVD):c.960+7C>A
|
|
|
NM_002225.5(IVD):c.960G>T (p.Gln320His)
|
rs367814475
|
|
NM_002225.5(IVD):c.961-13C>A
|
|
|
NM_002225.5(IVD):c.961-16A>G
|
|
|
NM_002225.5(IVD):c.961-1G>T
|
rs1555405067
|
|
NM_002225.5(IVD):c.961-20T>C
|
|
|
NM_002225.5(IVD):c.961-2A>G
|
rs1057517056
|
|
NM_002225.5(IVD):c.961-2A>T
|
rs1057517056
|
|
NM_002225.5(IVD):c.961-5C>T
|
|
|
NM_002225.5(IVD):c.967C>G (p.Gln323Glu)
|
rs1891639284
|
|
NM_002225.5(IVD):c.974del (p.Lys325fs)
|
rs1555405070
|
|
NM_002225.5(IVD):c.977T>C (p.Met326Thr)
|
rs1891640609
|
|
NM_002225.5(IVD):c.985_986del (p.Met329fs)
|
|
|
NM_002225.5(IVD):c.986T>C (p.Met329Thr)
|
|
|
NM_002225.5(IVD):c.990C>T (p.Tyr330=)
|
|
|
NM_002225.5(IVD):c.994del (p.Arg332fs)
|
rs1555405080
|
|
NM_002225.5(IVD):c.995G>A (p.Arg332His)
|
|
|
NM_002225.5(IVD):c.995G>T (p.Arg332Leu)
|
rs745464766
|
|
NM_002225.5(IVD):c.99G>A (p.Leu33=)
|
|
|