|
NM_006371.5(CRTAP):c.*1858T>A
|
rs4678476
|
0.93106
|
|
NM_006371.5(CRTAP):c.*3485G>A
|
rs1132392
|
0.45631
|
|
NM_006371.5(CRTAP):c.1044G>A (p.Ser348=)
|
rs1135128
|
0.36102
|
|
NM_006371.5(CRTAP):c.1032T>G (p.Thr344=)
|
rs1135127
|
0.36088
|
|
NM_006371.5(CRTAP):c.*2416T>C
|
rs1127898
|
0.27685
|
|
NM_006371.5(CRTAP):c.*1467G>A
|
rs4678475
|
0.24367
|
|
NM_006371.5(CRTAP):c.534C>T (p.Asp178=)
|
rs4076086
|
0.18059
|
|
NM_006371.5(CRTAP):c.213G>A (p.Leu71=)
|
rs11558338
|
0.15448
|
|
NM_006371.5(CRTAP):c.*2147A>G
|
rs4355234
|
0.13787
|
|
NM_006371.5(CRTAP):c.*3142G>A
|
rs12635415
|
0.13012
|
|
NM_006371.5(CRTAP):c.*1582C>A
|
rs1137463
|
0.11766
|
|
NM_006371.5(CRTAP):c.*4774C>T
|
rs11925558
|
0.06783
|
|
NM_006371.5(CRTAP):c.*3949C>T
|
rs72859106
|
0.05162
|
|
NM_006371.5(CRTAP):c.*4256A>G
|
rs56401432
|
0.04639
|
|
NM_006371.5(CRTAP):c.*3793C>T
|
rs72859105
|
0.04635
|
|
NM_006371.5(CRTAP):c.*2901G>C
|
rs72857502
|
0.04627
|
|
NM_006371.5(CRTAP):c.*1919A>G
|
rs4429578
|
0.04291
|
|
NM_006371.5(CRTAP):c.*269C>T
|
rs143237314
|
0.03228
|
|
NM_006371.5(CRTAP):c.*3005G>A
|
rs114186675
|
0.02392
|
|
NM_006371.5(CRTAP):c.*3243A>C
|
rs114378448
|
0.02306
|
|
NM_006371.5(CRTAP):c.*3145A>G
|
rs74503694
|
0.01992
|
|
NM_006371.5(CRTAP):c.*777C>A
|
rs116759530
|
0.01795
|
|
NM_006371.5(CRTAP):c.*4623A>C
|
rs75873340
|
0.01770
|
|
NM_006371.5(CRTAP):c.*2474T>G
|
rs78745278
|
0.01414
|
|
NM_006371.5(CRTAP):c.*982A>G
|
rs78409158
|
0.00708
|
|
NM_006371.5(CRTAP):c.*3464A>C
|
rs144325894
|
0.00619
|
|
NM_006371.5(CRTAP):c.*3950G>A
|
rs141093723
|
0.00541
|
|
NM_006371.5(CRTAP):c.*2876C>T
|
rs147135876
|
0.00540
|
|
NM_006371.5(CRTAP):c.*4017G>A
|
rs115504052
|
0.00534
|
|
NM_006371.5(CRTAP):c.888C>T (p.Thr296=)
|
rs13637
|
0.00524
|
|
NM_006371.5(CRTAP):c.*4129T>C
|
rs76450273
|
0.00503
|
|
NM_006371.5(CRTAP):c.*4705G>T
|
rs145711257
|
0.00483
|
|
NM_006371.5(CRTAP):c.*2943A>G
|
rs115684525
|
0.00447
|
|
NM_006371.5(CRTAP):c.*1361G>A
|
rs112399944
|
0.00432
|
|
NM_006371.5(CRTAP):c.*3454C>T
|
rs140429132
|
0.00417
|
|
NM_006371.5(CRTAP):c.*288C>T
|
rs111603077
|
0.00336
|
|
NM_006371.5(CRTAP):c.*4844C>T
|
rs146565729
|
0.00302
|
|
NM_006371.5(CRTAP):c.*3221C>T
|
rs552901003
|
0.00296
|
|
NM_006371.5(CRTAP):c.*1041C>T
|
rs114487086
|
0.00282
|
|
NM_006371.5(CRTAP):c.1039C>T (p.Leu347Phe)
|
rs115198029
|
0.00250
|
|
NM_006371.5(CRTAP):c.622-16T>C
|
rs147610884
|
0.00250
|
|
NM_006371.5(CRTAP):c.*31C>T
|
rs149138748
|
0.00240
|
|
NM_006371.5(CRTAP):c.*2524G>A
|
rs150800828
|
0.00234
|
|
NM_006371.5(CRTAP):c.732C>T (p.Leu244=)
|
rs149119710
|
0.00178
|
|
NM_006371.5(CRTAP):c.*2674A>G
|
rs528845478
|
0.00171
|
|
NM_006371.5(CRTAP):c.*1071G>T
|
rs140601474
|
0.00160
|
|
NM_006371.5(CRTAP):c.*3720C>A
|
rs62250520
|
0.00160
|
|
NM_006371.5(CRTAP):c.*5195C>A
|
rs534020504
|
0.00128
|
|
NM_006371.5(CRTAP):c.*501C>T
|
rs115581077
|
0.00127
|
|
NM_006371.5(CRTAP):c.*1124C>A
|
rs570473174
|
0.00096
|
|
NM_006371.5(CRTAP):c.*2146C>A
|
rs113966745
|
0.00086
|
|
NM_006371.5(CRTAP):c.*5223T>A
|
rs192685869
|
0.00084
|
|
NM_006371.5(CRTAP):c.*3012G>A
|
rs576963168
|
0.00083
|
|
NM_006371.5(CRTAP):c.446A>G (p.Lys149Arg)
|
rs201564256
|
0.00080
|
|
NM_006371.5(CRTAP):c.451C>G (p.Leu151Val)
|
rs202118861
|
0.00070
|
|
NM_006371.5(CRTAP):c.*3124G>A
|
rs375326992
|
0.00069
|
|
NM_006371.5(CRTAP):c.*4459C>A
|
rs560001702
|
0.00062
|
|
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala)
|
rs146124454
|
0.00061
|
|
NM_006371.5(CRTAP):c.*2456T>G
|
rs566327751
|
0.00058
|
|
NM_006371.5(CRTAP):c.655G>A (p.Gly219Ser)
|
rs145048208
|
0.00056
|
|
NM_006371.5(CRTAP):c.289G>C (p.Ala97Pro)
|
rs200243989
|
0.00055
|
|
NM_006371.5(CRTAP):c.*4857A>C
|
rs540853691
|
0.00053
|
|
NM_006371.5(CRTAP):c.*2956G>A
|
rs547128745
|
0.00048
|
|
NM_006371.5(CRTAP):c.*4601T>C
|
rs528767183
|
0.00048
|
|
NM_006371.5(CRTAP):c.*4994C>T
|
rs760019010
|
0.00048
|
|
NM_006371.5(CRTAP):c.*225G>C
|
rs886058347
|
0.00039
|
|
NM_006371.5(CRTAP):c.*1637G>C
|
rs538128865
|
0.00035
|
|
NM_006371.5(CRTAP):c.*3788G>A
|
rs772312868
|
0.00027
|
|
NM_006371.5(CRTAP):c.1153-8T>C
|
rs200397785
|
0.00026
|
|
NM_006371.5(CRTAP):c.*3978T>C
|
rs555292232
|
0.00023
|
|
NM_006371.5(CRTAP):c.373G>C (p.Gly125Arg)
|
rs777442040
|
0.00023
|
|
NM_006371.5(CRTAP):c.*1460C>T
|
rs768618170
|
0.00022
|
|
NM_006371.5(CRTAP):c.*1431C>T
|
rs543450336
|
0.00021
|
|
NM_006371.5(CRTAP):c.226T>C (p.Leu76=)
|
rs368879937
|
0.00018
|
|
NM_006371.5(CRTAP):c.*2129A>G
|
rs557919030
|
0.00017
|
|
NM_006371.5(CRTAP):c.*5005G>T
|
rs532876768
|
0.00017
|
|
NM_006371.5(CRTAP):c.761A>G (p.Lys254Arg)
|
rs114245114
|
0.00017
|
|
NM_006371.5(CRTAP):c.*50C>G
|
rs371999646
|
0.00016
|
|
NM_006371.5(CRTAP):c.654C>T (p.Asn218=)
|
rs144486582
|
0.00016
|
|
NM_006371.5(CRTAP):c.866C>T (p.Pro289Leu)
|
rs147140948
|
0.00016
|
|
NM_006371.5(CRTAP):c.*1397G>A
|
rs528373518
|
0.00013
|
|
NM_006371.5(CRTAP):c.*991C>T
|
rs886058355
|
0.00013
|
|
NM_006371.5(CRTAP):c.514C>G (p.Leu172Val)
|
rs142090883
|
0.00012
|
|
NM_006371.5(CRTAP):c.583G>A (p.Glu195Lys)
|
rs201267683
|
0.00012
|
|
NM_006371.5(CRTAP):c.*2693C>T
|
rs149468116
|
0.00011
|
|
NM_006371.5(CRTAP):c.*5190G>T
|
rs901408269
|
0.00011
|
|
NM_006371.5(CRTAP):c.459C>G (p.Phe153Leu)
|
rs531119589
|
0.00011
|
|
NM_006371.5(CRTAP):c.*539C>G
|
rs750130051
|
0.00010
|
|
NM_006371.5(CRTAP):c.471+2C>A
|
rs137853943
|
0.00010
|
|
NM_006371.5(CRTAP):c.85G>C (p.Glu29Gln)
|
rs766784647
|
0.00010
|
|
NM_006371.5(CRTAP):c.88C>A (p.Arg30Ser)
|
rs553076085
|
0.00010
|
|
NM_006371.5(CRTAP):c.*2679G>A
|
rs547363446
|
0.00009
|
|
NM_006371.5(CRTAP):c.*293G>A
|
rs939604527
|
0.00009
|
|
NM_006371.5(CRTAP):c.121C>T (p.Leu41=)
|
rs904106169
|
0.00009
|
|
NM_006371.5(CRTAP):c.826C>T (p.Gln276Ter)
|
rs72659361
|
0.00009
|
|
NM_006371.5(CRTAP):c.*3511G>C
|
rs886058369
|
0.00008
|
|
NM_006371.5(CRTAP):c.*4836T>C
|
rs568448045
|
0.00008
|
|
NM_006371.5(CRTAP):c.233G>A (p.Arg78His)
|
rs372600896
|
0.00008
|
|
NM_006371.5(CRTAP):c.*1861A>G
|
rs553553619
|
0.00007
|
|
NM_006371.5(CRTAP):c.131T>C (p.Leu44Pro)
|
rs772784211
|
0.00007
|
|
NM_006371.5(CRTAP):c.724G>A (p.Glu242Lys)
|
rs147836108
|
0.00007
|
|
NM_006371.5(CRTAP):c.851T>C (p.Val284Ala)
|
rs747772727
|
0.00007
|
|
NM_006371.5(CRTAP):c.*238G>A
|
rs886058348
|
0.00006
|
|
NM_006371.5(CRTAP):c.*5048G>A
|
rs886058376
|
0.00006
|
|
NM_006371.5(CRTAP):c.456G>C (p.Gln152His)
|
rs779447329
|
0.00006
|
|
NM_006371.5(CRTAP):c.756G>A (p.Glu252=)
|
rs116519163
|
0.00006
|
|
NM_006371.5(CRTAP):c.922+8A>G
|
rs368259273
|
0.00006
|
|
NM_006371.5(CRTAP):c.*422T>C
|
rs763428960
|
0.00005
|
|
NM_006371.5(CRTAP):c.368A>G (p.Lys123Arg)
|
rs767456804
|
0.00005
|
|
NM_006371.5(CRTAP):c.372G>A (p.Gln124=)
|
rs755889115
|
0.00005
|
|
NM_006371.5(CRTAP):c.471+13C>T
|
rs770975997
|
0.00005
|
|
NM_006371.5(CRTAP):c.499G>A (p.Ala167Thr)
|
rs754568024
|
0.00005
|
|
NM_006371.5(CRTAP):c.*2968G>A
|
rs1292526404
|
0.00004
|
|
NM_006371.5(CRTAP):c.*5313T>G
|
rs886058379
|
0.00004
|
|
NM_006371.5(CRTAP):c.1111C>T (p.Leu371=)
|
rs377713659
|
0.00004
|
|
NM_006371.5(CRTAP):c.111A>G (p.Pro37=)
|
rs772038741
|
0.00004
|
|
NM_006371.5(CRTAP):c.1129G>A (p.Glu377Lys)
|
rs546298253
|
0.00004
|
|
NM_006371.5(CRTAP):c.168C>G (p.Ser56Arg)
|
rs146112611
|
0.00004
|
|
NM_006371.5(CRTAP):c.231G>A (p.Leu77=)
|
rs576184132
|
0.00004
|
|
NM_006371.5(CRTAP):c.312C>G (p.Pro104=)
|
rs904096765
|
0.00004
|
|
NM_006371.5(CRTAP):c.339G>C (p.Leu113=)
|
rs960380634
|
0.00004
|
|
NM_006371.5(CRTAP):c.611A>C (p.Lys204Thr)
|
rs145623565
|
0.00004
|
|
NM_006371.5(CRTAP):c.634C>T (p.Arg212Ter)
|
rs137853944
|
0.00004
|
|
NM_006371.5(CRTAP):c.760A>G (p.Lys254Glu)
|
rs756183963
|
0.00004
|
|
NM_006371.5(CRTAP):c.*4190C>T
|
rs1427913520
|
0.00003
|
|
NM_006371.5(CRTAP):c.*4691T>C
|
rs775051039
|
0.00003
|
|
NM_006371.5(CRTAP):c.*608G>A
|
rs886058352
|
0.00003
|
|
NM_006371.5(CRTAP):c.*865C>G
|
rs545771795
|
0.00003
|
|
NM_006371.5(CRTAP):c.1067C>G (p.Pro356Arg)
|
rs1487896301
|
0.00003
|
|
NM_006371.5(CRTAP):c.143A>G (p.Tyr48Cys)
|
rs768012717
|
0.00003
|
|
NM_006371.5(CRTAP):c.308A>G (p.Tyr103Cys)
|
rs769117004
|
0.00003
|
|
NM_006371.5(CRTAP):c.376C>T (p.Leu126=)
|
rs756961672
|
0.00003
|
|
NM_006371.5(CRTAP):c.435C>T (p.Arg145=)
|
rs753670727
|
0.00003
|
|
NM_006371.5(CRTAP):c.976C>G (p.Gln326Glu)
|
rs116821774
|
0.00003
|
|
NM_006371.5(CRTAP):c.*1193A>G
|
rs1026331026
|
0.00002
|
|
NM_006371.5(CRTAP):c.*2242A>C
|
rs886058362
|
0.00002
|
|
NM_006371.5(CRTAP):c.*2687C>T
|
rs565676142
|
0.00002
|
|
NM_006371.5(CRTAP):c.*3061C>G
|
rs371938944
|
0.00002
|
|
NM_006371.5(CRTAP):c.*348A>G
|
rs886058349
|
0.00002
|
|
NM_006371.5(CRTAP):c.*4422C>G
|
rs373275402
|
0.00002
|
|
NM_006371.5(CRTAP):c.*4940G>C
|
rs1323498830
|
0.00002
|
|
NM_006371.5(CRTAP):c.*4950A>G
|
rs780502214
|
0.00002
|
|
NM_006371.5(CRTAP):c.*5134T>C
|
rs958340124
|
0.00002
|
|
NM_006371.5(CRTAP):c.1068+11T>C
|
rs761750861
|
0.00002
|
|
NM_006371.5(CRTAP):c.1151A>G (p.Glu384Gly)
|
rs754519818
|
0.00002
|
|
NM_006371.5(CRTAP):c.1182C>G (p.Leu394=)
|
rs1393973409
|
0.00002
|
|
NM_006371.5(CRTAP):c.132C>T (p.Leu44=)
|
rs114946269
|
0.00002
|
|
NM_006371.5(CRTAP):c.282C>T (p.Pro94=)
|
rs540998437
|
0.00002
|
|
NM_006371.5(CRTAP):c.471+9G>T
|
rs763097630
|
0.00002
|
|
NM_006371.5(CRTAP):c.582C>T (p.Ala194=)
|
rs149165428
|
0.00002
|
|
NM_006371.5(CRTAP):c.585G>A (p.Glu195=)
|
rs1208285123
|
0.00002
|
|
NM_006371.5(CRTAP):c.636A>C (p.Arg212=)
|
rs749259974
|
0.00002
|
|
NM_006371.5(CRTAP):c.644G>A (p.Arg215Gln)
|
rs572086683
|
0.00002
|
|
NM_006371.5(CRTAP):c.702C>T (p.Pro234=)
|
rs371017739
|
0.00002
|
|
NM_006371.5(CRTAP):c.742G>A (p.Glu248Lys)
|
rs765752550
|
0.00002
|
|
NM_006371.5(CRTAP):c.744G>A (p.Glu248=)
|
rs371845227
|
0.00002
|
|
NM_006371.5(CRTAP):c.767T>G (p.Phe256Cys)
|
rs139099707
|
0.00002
|
|
NM_006371.5(CRTAP):c.825A>G (p.Ile275Met)
|
rs764370024
|
0.00002
|
|
NM_006371.5(CRTAP):c.*1608A>G
|
rs904905604
|
0.00001
|
|
NM_006371.5(CRTAP):c.*1614G>A
|
rs886058360
|
0.00001
|
|
NM_006371.5(CRTAP):c.*1853A>G
|
rs1430038230
|
0.00001
|
|
NM_006371.5(CRTAP):c.*2071A>G
|
rs969150344
|
0.00001
|
|
NM_006371.5(CRTAP):c.*2113A>G
|
rs774529962
|
0.00001
|
|
NM_006371.5(CRTAP):c.*2435T>G
|
rs1370062497
|
0.00001
|
|
NM_006371.5(CRTAP):c.*2829C>G
|
rs1412857097
|
0.00001
|
|
NM_006371.5(CRTAP):c.*2976C>T
|
rs886058366
|
0.00001
|
|
NM_006371.5(CRTAP):c.*3113G>A
|
rs886058367
|
0.00001
|
|
NM_006371.5(CRTAP):c.*3224T>C
|
rs886058368
|
0.00001
|
|
NM_006371.5(CRTAP):c.*496A>G
|
rs1414037282
|
0.00001
|
|
NM_006371.5(CRTAP):c.*670G>A
|
rs558551071
|
0.00001
|
|
NM_006371.5(CRTAP):c.1022A>G (p.His341Arg)
|
rs781545232
|
0.00001
|
|
NM_006371.5(CRTAP):c.1138A>G (p.Met380Val)
|
rs2030358355
|
0.00001
|
|
NM_006371.5(CRTAP):c.114G>T (p.Arg38=)
|
rs746788797
|
0.00001
|
|
NM_006371.5(CRTAP):c.1152+10del
|
rs1167597599
|
0.00001
|
|
NM_006371.5(CRTAP):c.125T>C (p.Met42Thr)
|
rs761551356
|
0.00001
|
|
NM_006371.5(CRTAP):c.157G>C (p.Asp53His)
|
rs752802071
|
0.00001
|
|
NM_006371.5(CRTAP):c.167G>A (p.Ser56Asn)
|
rs571617130
|
0.00001
|
|
NM_006371.5(CRTAP):c.170G>A (p.Gly57Asp)
|
rs747689884
|
0.00001
|
|
NM_006371.5(CRTAP):c.189C>T (p.Ser63=)
|
rs1178355967
|
0.00001
|
|
NM_006371.5(CRTAP):c.239G>A (p.Ser80Asn)
|
rs754916341
|
0.00001
|
|
NM_006371.5(CRTAP):c.249C>T (p.Phe83=)
|
rs781058476
|
0.00001
|
|
NM_006371.5(CRTAP):c.270C>T (p.Ala90=)
|
rs769515796
|
0.00001
|
|
NM_006371.5(CRTAP):c.271G>C (p.Ala91Pro)
|
rs886058345
|
0.00001
|
|
NM_006371.5(CRTAP):c.325T>C (p.Phe109Leu)
|
rs775914088
|
0.00001
|
|
NM_006371.5(CRTAP):c.344G>A (p.Arg115His)
|
rs867761925
|
0.00001
|
|
NM_006371.5(CRTAP):c.348G>C (p.Ala116=)
|
rs1176028547
|
0.00001
|
|
NM_006371.5(CRTAP):c.371A>G (p.Gln124Arg)
|
rs752605909
|
0.00001
|
|
NM_006371.5(CRTAP):c.388C>T (p.Arg130Cys)
|
rs969878155
|
0.00001
|
|
NM_006371.5(CRTAP):c.402C>T (p.Pro134=)
|
rs771525192
|
0.00001
|
|
NM_006371.5(CRTAP):c.420G>A (p.Ala140=)
|
rs773473218
|
0.00001
|
|
NM_006371.5(CRTAP):c.429G>T (p.Gln143His)
|
rs766390490
|
0.00001
|
|
NM_006371.5(CRTAP):c.469A>C (p.Lys157Gln)
|
rs137853942
|
0.00001
|
|
NM_006371.5(CRTAP):c.471+14G>A
|
rs1057480002
|
0.00001
|
|
NM_006371.5(CRTAP):c.495C>T (p.Ile165=)
|
rs962349827
|
0.00001
|
|
NM_006371.5(CRTAP):c.496G>A (p.Ala166Thr)
|
rs1436939742
|
0.00001
|
|
NM_006371.5(CRTAP):c.516A>G (p.Leu172=)
|
rs372425538
|
0.00001
|
|
NM_006371.5(CRTAP):c.528T>G (p.Pro176=)
|
rs774680682
|
0.00001
|
|
NM_006371.5(CRTAP):c.531T>C (p.Asp177=)
|
rs571683222
|
0.00001
|
|
NM_006371.5(CRTAP):c.535G>A (p.Glu179Lys)
|
rs953081958
|
0.00001
|
|
NM_006371.5(CRTAP):c.609C>G (p.Thr203=)
|
rs778959807
|
0.00001
|
|
NM_006371.5(CRTAP):c.622-15C>A
|
rs553702665
|
0.00001
|
|
NM_006371.5(CRTAP):c.622-3C>G
|
rs563594799
|
0.00001
|
|
NM_006371.5(CRTAP):c.643C>T (p.Arg215Trp)
|
rs149281572
|
0.00001
|
|
NM_006371.5(CRTAP):c.667A>C (p.Arg223=)
|
rs780393476
|
0.00001
|
|
NM_006371.5(CRTAP):c.677T>A (p.Ile226Asn)
|
rs2029999836
|
0.00001
|
|
NM_006371.5(CRTAP):c.68C>T (p.Ala23Val)
|
rs1401887028
|
0.00001
|
|
NM_006371.5(CRTAP):c.70G>A (p.Gly24Arg)
|
rs763727738
|
0.00001
|
|
NM_006371.5(CRTAP):c.72G>A (p.Gly24=)
|
rs776316982
|
0.00001
|
|
NM_006371.5(CRTAP):c.751A>G (p.Arg251Gly)
|
rs1351893746
|
0.00001
|
|
NM_006371.5(CRTAP):c.793+17T>A
|
rs767057725
|
0.00001
|
|
NM_006371.5(CRTAP):c.889A>G (p.Met297Val)
|
rs761161112
|
0.00001
|
|
NM_006371.5(CRTAP):c.900C>T (p.Tyr300=)
|
rs776879779
|
0.00001
|
|
NM_006371.5(CRTAP):c.923-19C>T
|
rs1194244572
|
0.00001
|
|
NM_006371.5(CRTAP):c.928G>A (p.Asp310Asn)
|
rs111525897
|
0.00001
|
|
NM_006371.5(CRTAP):c.92A>G (p.Tyr31Cys)
|
rs372115693
|
0.00001
|
|
NM_006371.5(CRTAP):c.953C>T (p.Ala318Val)
|
rs114178925
|
0.00001
|
|
NM_006371.5(CRTAP):c.969C>T (p.Leu323=)
|
rs1318916871
|
0.00001
|
|
NM_006371.5(CRTAP):c.986A>G (p.Lys329Arg)
|
rs757967789
|
0.00001
|
|
NC_000003.11:g.(33175758_33183886)_(33189266_?)del
|
|
|
|
NC_000003.11:g.(?_33155449)_(33166072_33171430)del
|
|
|
|
NC_000003.11:g.(?_33155570)_(33156060_?)del
|
|
|
|
NC_000003.11:g.(?_33155570)_(33166091_?)del
|
|
|
|
NC_000003.11:g.(?_33183867)_(33183940_?)del
|
|
|
|
NC_000003.12:g.(?_33114058)_(33124599_?)del
|
|
|
|
NM_006371.5(CRTAP):c.*1181A>T
|
rs556192429
|
|
|
NM_006371.5(CRTAP):c.*1254C>A
|
rs886058357
|
|
|
NM_006371.5(CRTAP):c.*1564A>G
|
rs886058359
|
|
|
NM_006371.5(CRTAP):c.*1606C>G
|
rs2030655041
|
|
|
NM_006371.5(CRTAP):c.*2146C>T
|
rs113966745
|
|
|
NM_006371.5(CRTAP):c.*2218C>T
|
rs886058361
|
|
|
NM_006371.5(CRTAP):c.*2302G>A
|
rs886058363
|
|
|
NM_006371.5(CRTAP):c.*2431G>A
|
rs886058364
|
|
|
NM_006371.5(CRTAP):c.*2585G>C
|
rs886058365
|
|
|
NM_006371.5(CRTAP):c.*2628G>A
|
rs115744599
|
|
|
NM_006371.5(CRTAP):c.*2837G>T
|
rs764661352
|
|
|
NM_006371.5(CRTAP):c.*3110G>C
|
rs2030698620
|
|
|
NM_006371.5(CRTAP):c.*3332G>T
|
rs535312612
|
|
|
NM_006371.5(CRTAP):c.*3588A>G
|
rs1336476058
|
|
|
NM_006371.5(CRTAP):c.*3710T>C
|
rs1575522291
|
|
|
NM_006371.5(CRTAP):c.*3731C>T
|
rs561959158
|
|
|
NM_006371.5(CRTAP):c.*3891C>A
|
rs4678478
|
|
|
NM_006371.5(CRTAP):c.*3891C>T
|
rs4678478
|
|
|
NM_006371.5(CRTAP):c.*4099A>G
|
rs886058370
|
|
|
NM_006371.5(CRTAP):c.*4124G>A
|
rs183098032
|
|
|
NM_006371.5(CRTAP):c.*4124G>T
|
rs183098032
|
|
|
NM_006371.5(CRTAP):c.*4427A>G
|
rs2030735903
|
|
|
NM_006371.5(CRTAP):c.*4568C>T
|
rs536756882
|
|
|
NM_006371.5(CRTAP):c.*4592T>C
|
rs2030740279
|
|
|
NM_006371.5(CRTAP):c.*4647T>A
|
rs886058373
|
|
|
NM_006371.5(CRTAP):c.*4705G>A
|
rs145711257
|
|
|
NM_006371.5(CRTAP):c.*4786G>C
|
rs1019554127
|
|
|
NM_006371.5(CRTAP):c.*4809A>G
|
rs886058375
|
|
|
NM_006371.5(CRTAP):c.*5054A>G
|
rs886058377
|
|
|
NM_006371.5(CRTAP):c.*5077A>G
|
rs886058378
|
|
|
NM_006371.5(CRTAP):c.*5183C>A
|
rs1284480065
|
|
|
NM_006371.5(CRTAP):c.*526G>C
|
rs886058351
|
|
|
NM_006371.5(CRTAP):c.*69G>T
|
rs2030606287
|
|
|
NM_006371.5(CRTAP):c.*703A>T
|
rs886058353
|
|
|
NM_006371.5(CRTAP):c.*712A>T
|
rs544339410
|
|
|
NM_006371.5(CRTAP):c.*910T>C
|
rs886058354
|
|
|
NM_006371.5(CRTAP):c.1001del (p.Asn334fs)
|
rs2125603874
|
|
|
NM_006371.5(CRTAP):c.1005G>C (p.Leu335=)
|
|
|
|
NM_006371.5(CRTAP):c.1008G>A (p.Val336=)
|
|
|
|
NM_006371.5(CRTAP):c.1016dup (p.Tyr340fs)
|
|
|
|
NM_006371.5(CRTAP):c.101G>T (p.Arg34Leu)
|
rs1468902182
|
|
|
NM_006371.5(CRTAP):c.101_109dup (p.Arg34_Phe36dup)
|
rs778741063
|
|
|
NM_006371.5(CRTAP):c.1020C>G (p.Tyr340Ter)
|
|
|
|
NM_006371.5(CRTAP):c.1023C>T (p.His341=)
|
|
|
|
NM_006371.5(CRTAP):c.1030A>G (p.Thr344Ala)
|
rs1575518722
|
|
|
NM_006371.5(CRTAP):c.1031C>A (p.Thr344Asn)
|
rs1305456639
|
|
|
NM_006371.5(CRTAP):c.104G>C (p.Ser35Thr)
|
rs573867257
|
|
|
NM_006371.5(CRTAP):c.1059G>A (p.Gln353=)
|
rs2125603921
|
|
|
NM_006371.5(CRTAP):c.105C>T (p.Ser35=)
|
rs960183840
|
|
|
NM_006371.5(CRTAP):c.1068+12G>A
|
|
|
|
NM_006371.5(CRTAP):c.1068+13C>T
|
|
|
|
NM_006371.5(CRTAP):c.1068+14A>C
|
|
|
|
NM_006371.5(CRTAP):c.1068+14A>T
|
|
|
|
NM_006371.5(CRTAP):c.1068+15C>T
|
|
|
|
NM_006371.5(CRTAP):c.1068+18C>T
|
|
|
|
NM_006371.5(CRTAP):c.1069-12G>T
|
|
|
|
NM_006371.5(CRTAP):c.108C>T (p.Phe36=)
|
|
|
|
NM_006371.5(CRTAP):c.1095C>T (p.Thr365=)
|
|
|
|
NM_006371.5(CRTAP):c.1112T>C (p.Leu371Pro)
|
|
|
|
NM_006371.5(CRTAP):c.111A>C (p.Pro37=)
|
|
|
|
NM_006371.5(CRTAP):c.1128G>A (p.Lys376=)
|
rs1575519242
|
|
|
NM_006371.5(CRTAP):c.1135A>G (p.Ile379Val)
|
|
|
|
NM_006371.5(CRTAP):c.113G>C (p.Arg38Pro)
|
rs1311153988
|
|
|
NM_006371.5(CRTAP):c.1141del (p.Asp381fs)
|
|
|
|
NM_006371.5(CRTAP):c.114G>A (p.Arg38=)
|
|
|
|
NM_006371.5(CRTAP):c.114G>C (p.Arg38=)
|
|
|
|
NM_006371.5(CRTAP):c.1152+12T>A
|
|
|
|
NM_006371.5(CRTAP):c.1152+5G>C
|
rs1553617810
|
|
|
NM_006371.5(CRTAP):c.1153-3C>G
|
rs201554363
|
|
|
NM_006371.5(CRTAP):c.1153-3C>T
|
|
|
|
NM_006371.5(CRTAP):c.1155A>C (p.Gly385=)
|
|
|
|
NM_006371.5(CRTAP):c.115G>T (p.Asp39Tyr)
|
rs768482278
|
|
|
NM_006371.5(CRTAP):c.118G>T (p.Glu40Ter)
|
rs863225043
|
|
|
NM_006371.5(CRTAP):c.118_133delinsTACCC (p.Glu40fs)
|
rs387907333
|
|
|
NM_006371.5(CRTAP):c.1192G>A (p.Glu398Lys)
|
rs201513139
|
|
|
NM_006371.5(CRTAP):c.1197G>A (p.Glu399=)
|
|
|
|
NM_006371.5(CRTAP):c.129G>A (p.Pro43=)
|
|
|
|
NM_006371.5(CRTAP):c.141C>A (p.Ala47=)
|
|
|
|
NM_006371.5(CRTAP):c.143A>T (p.Tyr48Phe)
|
|
|
|
NM_006371.5(CRTAP):c.146G>C (p.Arg49Pro)
|
rs1376339738
|
|
|
NM_006371.5(CRTAP):c.150C>T (p.His50=)
|
|
|
|
NM_006371.5(CRTAP):c.153_175dup (p.His59fs)
|
|
|
|
NM_006371.5(CRTAP):c.155T>C (p.Leu52Pro)
|
rs1435396409
|
|
|
NM_006371.5(CRTAP):c.157del (p.Asp53fs)
|
|
|
|
NM_006371.5(CRTAP):c.162G>A (p.Lys54=)
|
|
|
|
NM_006371.5(CRTAP):c.163T>C (p.Tyr55His)
|
|
|
|
NM_006371.5(CRTAP):c.168C>T (p.Ser56=)
|
|
|
|
NM_006371.5(CRTAP):c.169G>A (p.Gly57Ser)
|
|
|
|
NM_006371.5(CRTAP):c.172G>T (p.Glu58Ter)
|
rs769484595
|
|
|
NM_006371.5(CRTAP):c.173A>G (p.Glu58Gly)
|
rs1701312995
|
|
|
NM_006371.5(CRTAP):c.179G>A (p.Trp60Ter)
|
|
|
|
NM_006371.5(CRTAP):c.183C>A (p.Ala61=)
|
|
|
|
NM_006371.5(CRTAP):c.195C>A (p.Gly65=)
|
|
|
|
NM_006371.5(CRTAP):c.195C>T (p.Gly65=)
|
|
|
|
NM_006371.5(CRTAP):c.196T>G (p.Tyr66Asp)
|
|
|
|
NM_006371.5(CRTAP):c.198C>A (p.Tyr66Ter)
|
rs137853939
|
|
|
NM_006371.5(CRTAP):c.204G>A (p.Glu68=)
|
|
|
|
NM_006371.5(CRTAP):c.207C>A (p.Ile69=)
|
|
|
|
NM_006371.5(CRTAP):c.210C>T (p.Ser70=)
|
rs2125595939
|
|
|
NM_006371.5(CRTAP):c.215G>T (p.Arg72Leu)
|
|
|
|
NM_006371.5(CRTAP):c.216G>A (p.Arg72=)
|
rs1227411759
|
|
|
NM_006371.5(CRTAP):c.217C>T (p.Leu73=)
|
|
|
|
NM_006371.5(CRTAP):c.222C>T (p.His74=)
|
|
|
|
NM_006371.5(CRTAP):c.224G>A (p.Arg75His)
|
rs1488937584
|
|
|
NM_006371.5(CRTAP):c.234C>G (p.Arg78=)
|
|
|
|
NM_006371.5(CRTAP):c.234C>T (p.Arg78=)
|
|
|
|
NM_006371.5(CRTAP):c.235G>C (p.Asp79His)
|
rs375833342
|
|
|
NM_006371.5(CRTAP):c.235G>T (p.Asp79Tyr)
|
rs375833342
|
|
|
NM_006371.5(CRTAP):c.237C>T (p.Asp79=)
|
|
|
|
NM_006371.5(CRTAP):c.246C>G (p.Ala82=)
|
|
|
|
NM_006371.5(CRTAP):c.255C>T (p.His85=)
|
|
|
|
NM_006371.5(CRTAP):c.257G>C (p.Arg86Pro)
|
rs2125595979
|
|
|
NM_006371.5(CRTAP):c.260A>G (p.Asn87Ser)
|
|
|
|
NM_006371.5(CRTAP):c.261C>A (p.Asn87Lys)
|
|
|
|
NM_006371.5(CRTAP):c.267C>G (p.Ser89Arg)
|
rs2125595986
|
|
|
NM_006371.5(CRTAP):c.276G>A (p.Pro92=)
|
|
|
|
NM_006371.5(CRTAP):c.278_293dup (p.Gly99fs)
|
|
|
|
NM_006371.5(CRTAP):c.279G>A (p.Gln93=)
|
|
|
|
NM_006371.5(CRTAP):c.280C>T (p.Pro94Ser)
|
|
|
|
NM_006371.5(CRTAP):c.288C>T (p.Pro96=)
|
|
|
|
NM_006371.5(CRTAP):c.291C>T (p.Ala97=)
|
|
|
|
NM_006371.5(CRTAP):c.303C>T (p.Ala101=)
|
rs2125596011
|
|
|
NM_006371.5(CRTAP):c.312C>A (p.Pro104=)
|
rs904096765
|
|
|
NM_006371.5(CRTAP):c.312C>T (p.Pro104=)
|
|
|
|
NM_006371.5(CRTAP):c.320_321del (p.Arg107fs)
|
rs768626850
|
|
|
NM_006371.5(CRTAP):c.321C>G (p.Arg107=)
|
|
|
|
NM_006371.5(CRTAP):c.329G>T (p.Gly110Val)
|
rs761073068
|
|
|
NM_006371.5(CRTAP):c.330G>A (p.Gly110=)
|
|
|
|
NM_006371.5(CRTAP):c.331G>T (p.Gly111Cys)
|
|
|
|
NM_006371.5(CRTAP):c.340C>T (p.Arg114Cys)
|
|
|
|
NM_006371.5(CRTAP):c.343C>G (p.Arg115Gly)
|
|
|
|
NM_006371.5(CRTAP):c.352_353delinsCT (p.Cys118Leu)
|
rs1701317564
|
|
|
NM_006371.5(CRTAP):c.353G>A (p.Cys118Tyr)
|
rs765234021
|
|
|
NM_006371.5(CRTAP):c.357C>T (p.Leu119=)
|
rs2125596063
|
|
|
NM_006371.5(CRTAP):c.360G>A (p.Lys120=)
|
|
|
|
NM_006371.5(CRTAP):c.363C>T (p.Arg121=)
|
|
|
|
NM_006371.5(CRTAP):c.370C>T (p.Gln124Ter)
|
|
|
|
NM_006371.5(CRTAP):c.375C>G (p.Gly125=)
|
|
|
|
NM_006371.5(CRTAP):c.380C>A (p.Pro127Gln)
|
rs921862940
|
|
|
NM_006371.5(CRTAP):c.387C>G (p.Phe129Leu)
|
rs778764392
|
|
|
NM_006371.5(CRTAP):c.396C>G (p.Ser132=)
|
rs1453368481
|
|
|
NM_006371.5(CRTAP):c.396C>T (p.Ser132=)
|
|
|
|
NM_006371.5(CRTAP):c.400C>A (p.Pro134Thr)
|
|
|
|
NM_006371.5(CRTAP):c.404del (p.Ser135fs)
|
rs137853941
|
|
|
NM_006371.5(CRTAP):c.406del (p.Arg136fs)
|
|
|
|
NM_006371.5(CRTAP):c.409G>T (p.Glu137Ter)
|
|
|
|
NM_006371.5(CRTAP):c.412G>A (p.Val138Met)
|
|
|
|
NM_006371.5(CRTAP):c.417G>A (p.Leu139=)
|
|
|
|
NM_006371.5(CRTAP):c.420G>T (p.Ala140=)
|
rs773473218
|
|
|
NM_006371.5(CRTAP):c.423C>T (p.Asp141=)
|
|
|
|
NM_006371.5(CRTAP):c.427C>T (p.Gln143Ter)
|
|
|
|
NM_006371.5(CRTAP):c.429G>A (p.Gln143=)
|
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NM_006371.5(CRTAP):c.430C>T (p.Arg144Cys)
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NM_006371.5(CRTAP):c.435C>G (p.Arg145=)
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NM_006371.5(CRTAP):c.436G>A (p.Glu146Lys)
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NM_006371.5(CRTAP):c.436G>T (p.Glu146Ter)
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NM_006371.5(CRTAP):c.438G>T (p.Glu146Asp)
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NM_006371.5(CRTAP):c.441C>G (p.Pro147=)
|
rs962653319
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NM_006371.5(CRTAP):c.443A>C (p.Tyr148Ser)
|
rs1185323876
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NM_006371.5(CRTAP):c.444C>G (p.Tyr148Ter)
|
rs972668240
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NM_006371.5(CRTAP):c.444C>T (p.Tyr148=)
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NM_006371.5(CRTAP):c.445A>T (p.Lys149Ter)
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NM_006371.5(CRTAP):c.447G>A (p.Lys149=)
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NM_006371.5(CRTAP):c.450C>T (p.Phe150=)
|
rs1701320948
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NM_006371.5(CRTAP):c.451C>T (p.Leu151=)
|
rs202118861
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NM_006371.5(CRTAP):c.452T>C (p.Leu151Pro)
|
rs1405064021
|
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NM_006371.5(CRTAP):c.452T>G (p.Leu151Arg)
|
rs1405064021
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NM_006371.5(CRTAP):c.453G>A (p.Leu151=)
|
rs1472276462
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NM_006371.5(CRTAP):c.459C>T (p.Phe153=)
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NM_006371.5(CRTAP):c.470A>G (p.Lys157Arg)
|
rs2125596197
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NM_006371.5(CRTAP):c.471+11C>T
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NM_006371.5(CRTAP):c.471+12T>G
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NM_006371.5(CRTAP):c.471+14G>T
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NM_006371.5(CRTAP):c.471+18C>A
|
rs759716355
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NM_006371.5(CRTAP):c.471+18C>G
|
rs759716355
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NM_006371.5(CRTAP):c.471+18C>T
|
rs759716355
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NM_006371.5(CRTAP):c.471+19G>T
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NM_006371.5(CRTAP):c.471+1G>C
|
rs72659359
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NM_006371.5(CRTAP):c.471+2C>G
|
rs137853943
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NM_006371.5(CRTAP):c.471+2C>T
|
rs137853943
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NM_006371.5(CRTAP):c.471+4A>G
|
rs549296015
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NM_006371.5(CRTAP):c.471+7C>T
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NM_006371.5(CRTAP):c.471+8C>G
|
rs1215281758
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NM_006371.5(CRTAP):c.471+8C>T
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NM_006371.5(CRTAP):c.471+9G>C
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NM_006371.5(CRTAP):c.472-1021C>G
|
rs72659360
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NM_006371.5(CRTAP):c.472-12T>G
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NM_006371.5(CRTAP):c.472-13T>C
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NM_006371.5(CRTAP):c.472-17G>A
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NM_006371.5(CRTAP):c.472-4T>G
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NM_006371.5(CRTAP):c.472-7C>A
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NM_006371.5(CRTAP):c.473C>G (p.Ala158Gly)
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NM_006371.5(CRTAP):c.477T>C (p.Asn159=)
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NM_006371.5(CRTAP):c.480T>C (p.Asn160=)
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NM_006371.5(CRTAP):c.486C>T (p.Pro162=)
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NM_006371.5(CRTAP):c.492C>T (p.Ala164=)
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NM_006371.5(CRTAP):c.495C>A (p.Ile165=)
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NM_006371.5(CRTAP):c.498C>T (p.Ala166=)
|
rs1309501247
|
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NM_006371.5(CRTAP):c.513T>C (p.Phe171=)
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NM_006371.5(CRTAP):c.516A>C (p.Leu172=)
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NM_006371.5(CRTAP):c.517C>G (p.Leu173Val)
|
rs778115119
|
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NM_006371.5(CRTAP):c.518T>C (p.Leu173Pro)
|
rs139024557
|
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NM_006371.5(CRTAP):c.527C>A (p.Pro176His)
|
|
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|
NM_006371.5(CRTAP):c.534C>G (p.Asp178Glu)
|
rs4076086
|
|
|
NM_006371.5(CRTAP):c.535G>T (p.Glu179Ter)
|
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NM_006371.5(CRTAP):c.542T>C (p.Met181Thr)
|
rs2125598667
|
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NM_006371.5(CRTAP):c.544A>C (p.Lys182Gln)
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NM_006371.5(CRTAP):c.549G>A (p.Arg183=)
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NM_006371.5(CRTAP):c.552C>T (p.Asn184=)
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NM_006371.5(CRTAP):c.558A>G (p.Ala186=)
|
rs35357409
|
|
|
NM_006371.5(CRTAP):c.558A>T (p.Ala186=)
|
rs35357409
|
|
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NM_006371.5(CRTAP):c.561T>G (p.Tyr187Ter)
|
rs387907334
|
|
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NM_006371.5(CRTAP):c.570C>T (p.Ser190=)
|
|
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|
NM_006371.5(CRTAP):c.601C>T (p.Leu201=)
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NM_006371.5(CRTAP):c.602T>G (p.Leu201Arg)
|
rs376333603
|
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|
NM_006371.5(CRTAP):c.621+15T>G
|
|
|
|
NM_006371.5(CRTAP):c.621+17A>G
|
|
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NM_006371.5(CRTAP):c.621+8T>C
|
rs2125598738
|
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|
NM_006371.5(CRTAP):c.621A>T (p.Glu207Asp)
|
|
|
|
NM_006371.5(CRTAP):c.622-18C>T
|
rs2125600371
|
|
|
NM_006371.5(CRTAP):c.622-7C>A
|
|
|
|
NM_006371.5(CRTAP):c.623G>A (p.Ser208Asn)
|
rs574565076
|
|
|
NM_006371.5(CRTAP):c.627G>A (p.Leu209=)
|
|
|
|
NM_006371.5(CRTAP):c.633C>T (p.Ile211=)
|
|
|
|
NM_006371.5(CRTAP):c.638del (p.Ala213fs)
|
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|
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NM_006371.5(CRTAP):c.643C>A (p.Arg215=)
|
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NM_006371.5(CRTAP):c.648A>G (p.Ala216=)
|
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|
|
NM_006371.5(CRTAP):c.657T>G (p.Gly219=)
|
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|
NM_006371.5(CRTAP):c.680C>T (p.Thr227Ile)
|
rs564175168
|
|
|
NM_006371.5(CRTAP):c.684C>G (p.Asp228Glu)
|
|
|
|
NM_006371.5(CRTAP):c.685A>T (p.Met229Leu)
|
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|
|
NM_006371.5(CRTAP):c.687G>A (p.Met229Ile)
|
|
|
|
NM_006371.5(CRTAP):c.688G>T (p.Glu230Ter)
|
rs1488345176
|
|
|
NM_006371.5(CRTAP):c.703G>A (p.Asp235Asn)
|
rs770887829
|
|
|
NM_006371.5(CRTAP):c.721T>G (p.Tyr241Asp)
|
rs2125600442
|
|
|
NM_006371.5(CRTAP):c.723C>T (p.Tyr241=)
|
|
|
|
NM_006371.5(CRTAP):c.726G>A (p.Glu242=)
|
|
|
|
NM_006371.5(CRTAP):c.728G>A (p.Cys243Tyr)
|
|
|
|
NM_006371.5(CRTAP):c.731_732del (p.Leu244fs)
|
rs760337365
|
|
|
NM_006371.5(CRTAP):c.733G>A (p.Ala245Thr)
|
|
|
|
NM_006371.5(CRTAP):c.73C>A (p.Arg25Ser)
|
|
|
|
NM_006371.5(CRTAP):c.741C>T (p.Cys247=)
|
|
|
|
NM_006371.5(CRTAP):c.753G>A (p.Arg251=)
|
|
|
|
NM_006371.5(CRTAP):c.756G>C (p.Glu252Asp)
|
rs116519163
|
|
|
NM_006371.5(CRTAP):c.759C>T (p.Ile253=)
|
rs752798767
|
|
|
NM_006371.5(CRTAP):c.759del (p.Lys254fs)
|
|
|
|
NM_006371.5(CRTAP):c.75C>T (p.Arg25=)
|
|
|
|
NM_006371.5(CRTAP):c.769A>C (p.Lys257Gln)
|
|
|
|
NM_006371.5(CRTAP):c.783T>G (p.Leu261=)
|
|
|
|
NM_006371.5(CRTAP):c.793+11G>A
|
|
|
|
NM_006371.5(CRTAP):c.793+12G>T
|
|
|
|
NM_006371.5(CRTAP):c.793+16A>G
|
|
|
|
NM_006371.5(CRTAP):c.793+19G>A
|
|
|
|
NM_006371.5(CRTAP):c.794-12G>T
|
|
|
|
NM_006371.5(CRTAP):c.794-14_794-13del
|
rs770107661
|
|
|
NM_006371.5(CRTAP):c.794-16A>G
|
|
|
|
NM_006371.5(CRTAP):c.794-19T>C
|
|
|
|
NM_006371.5(CRTAP):c.794-1G>C
|
|
|
|
NM_006371.5(CRTAP):c.794-2A>G
|
rs2125602711
|
|
|
NM_006371.5(CRTAP):c.794-3C>T
|
|
|
|
NM_006371.5(CRTAP):c.802G>A (p.Val268Ile)
|
rs112423184
|
|
|
NM_006371.5(CRTAP):c.804A>G (p.Val268=)
|
|
|
|
NM_006371.5(CRTAP):c.807A>G (p.Glu269=)
|
|
|
|
NM_006371.5(CRTAP):c.811C>T (p.Leu271=)
|
|
|
|
NM_006371.5(CRTAP):c.81A>G (p.Gln27=)
|
|
|
|
NM_006371.5(CRTAP):c.83A>G (p.Tyr28Cys)
|
|
|
|
NM_006371.5(CRTAP):c.855A>T (p.Ile285=)
|
|
|
|
NM_006371.5(CRTAP):c.867G>A (p.Pro289=)
|
rs746374230
|
|
|
NM_006371.5(CRTAP):c.879del (p.Phe293fs)
|
rs72659362
|
|
|
NM_006371.5(CRTAP):c.887_888insACAATGATACAAGT (p.Thr296_Met297insGlnTer)
|
|
|
|
NM_006371.5(CRTAP):c.888C>A (p.Thr296=)
|
|
|
|
NM_006371.5(CRTAP):c.88C>T (p.Arg30Cys)
|
rs553076085
|
|
|
NM_006371.5(CRTAP):c.896A>G (p.His299Arg)
|
|
|
|
NM_006371.5(CRTAP):c.903_908del (p.Leu301_Gln302del)
|
rs2030205751
|
|
|
NM_006371.5(CRTAP):c.904C>A (p.Gln302Lys)
|
rs2030205875
|
|
|
NM_006371.5(CRTAP):c.909T>C (p.Phe303=)
|
|
|
|
NM_006371.5(CRTAP):c.90C>G (p.Arg30=)
|
rs1256135890
|
|
|
NM_006371.5(CRTAP):c.918T>C (p.Tyr306=)
|
rs140613561
|
|
|
NM_006371.5(CRTAP):c.922+14del
|
|
|
|
NM_006371.5(CRTAP):c.922+15G>A
|
|
|
|
NM_006371.5(CRTAP):c.922+17G>A
|
|
|
|
NM_006371.5(CRTAP):c.922+18A>G
|
|
|
|
NM_006371.5(CRTAP):c.923-10C>T
|
|
|
|
NM_006371.5(CRTAP):c.923-2A>G
|
|
|
|
NM_006371.5(CRTAP):c.923-4C>G
|
|
|
|
NM_006371.5(CRTAP):c.927C>T (p.Asn309=)
|
|
|
|
NM_006371.5(CRTAP):c.930C>T (p.Asp310=)
|
rs762039541
|
|
|
NM_006371.5(CRTAP):c.93C>T (p.Tyr31=)
|
|
|
|
NM_006371.5(CRTAP):c.94A>G (p.Ser32Gly)
|
rs748431852
|
|
|
NM_006371.5(CRTAP):c.954A>C (p.Ala318=)
|
|
|
|
NM_006371.5(CRTAP):c.959G>A (p.Ser320Asn)
|
rs2125603844
|
|
|
NM_006371.5(CRTAP):c.962A>G (p.Tyr321Cys)
|
|
|
|
NM_006371.5(CRTAP):c.96C>T (p.Ser32=)
|
|
|
|
NM_006371.5(CRTAP):c.975T>C (p.Asp325=)
|
|
|
|
NM_006371.5(CRTAP):c.988G>A (p.Val330Ile)
|
rs2030300085
|
|
|
NM_006371.5(CRTAP):c.997C>T (p.Gln333Ter)
|
|
|
|
NM_006371.5(CRTAP):c.99C>G (p.Phe33Leu)
|
|
|