NM_006371.5(CRTAP):c.*1361G>A
|
rs112399944
|
0.00432
|
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.1039C>T (p.Leu347Phe)
|
rs115198029
|
0.00250
|
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.*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.*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.*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.*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.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.*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.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.*422T>C
|
rs763428960
|
0.00005
|
NM_006371.5(CRTAP):c.368A>G (p.Lys123Arg)
|
rs767456804
|
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.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.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.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.282C>T (p.Pro94=)
|
rs540998437
|
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.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.125T>C (p.Met42Thr)
|
rs761551356
|
0.00001
|
NM_006371.5(CRTAP):c.157G>C (p.Asp53His)
|
rs752802071
|
0.00001
|
NM_006371.5(CRTAP):c.170G>A (p.Gly57Asp)
|
rs747689884
|
0.00001
|
NM_006371.5(CRTAP):c.239G>A (p.Ser80Asn)
|
rs754916341
|
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.371A>G (p.Gln124Arg)
|
rs752605909
|
0.00001
|
NM_006371.5(CRTAP):c.388C>T (p.Arg130Cys)
|
rs969878155
|
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.496G>A (p.Ala166Thr)
|
rs1436939742
|
0.00001
|
NM_006371.5(CRTAP):c.528T>G (p.Pro176=)
|
rs774680682
|
0.00001
|
NM_006371.5(CRTAP):c.535G>A (p.Glu179Lys)
|
rs953081958
|
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.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.751A>G (p.Arg251Gly)
|
rs1351893746
|
0.00001
|
NM_006371.5(CRTAP):c.889A>G (p.Met297Val)
|
rs761161112
|
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.986A>G (p.Lys329Arg)
|
rs757967789
|
0.00001
|
NC_000003.11:g.(?_33183867)_(33183940_?)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.*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.*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.101G>T (p.Arg34Leu)
|
rs1468902182
|
|
NM_006371.5(CRTAP):c.101_109dup (p.Arg34_Phe36dup)
|
rs778741063
|
|
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.1068+12G>A
|
|
|
NM_006371.5(CRTAP):c.1112T>C (p.Leu371Pro)
|
|
|
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.1152+5G>C
|
rs1553617810
|
|
NM_006371.5(CRTAP):c.1153-3C>T
|
|
|
NM_006371.5(CRTAP):c.115G>T (p.Asp39Tyr)
|
rs768482278
|
|
NM_006371.5(CRTAP):c.1192G>A (p.Glu398Lys)
|
rs201513139
|
|
NM_006371.5(CRTAP):c.143A>T (p.Tyr48Phe)
|
|
|
NM_006371.5(CRTAP):c.146G>C (p.Arg49Pro)
|
rs1376339738
|
|
NM_006371.5(CRTAP):c.155T>C (p.Leu52Pro)
|
rs1435396409
|
|
NM_006371.5(CRTAP):c.163T>C (p.Tyr55His)
|
|
|
NM_006371.5(CRTAP):c.169G>A (p.Gly57Ser)
|
|
|
NM_006371.5(CRTAP):c.173A>G (p.Glu58Gly)
|
rs1701312995
|
|
NM_006371.5(CRTAP):c.196T>G (p.Tyr66Asp)
|
|
|
NM_006371.5(CRTAP):c.215G>T (p.Arg72Leu)
|
|
|
NM_006371.5(CRTAP):c.224G>A (p.Arg75His)
|
rs1488937584
|
|
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.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.280C>T (p.Pro94Ser)
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NM_006371.5(CRTAP):c.329G>T (p.Gly110Val)
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rs761073068
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NM_006371.5(CRTAP):c.331G>T (p.Gly111Cys)
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NM_006371.5(CRTAP):c.340C>T (p.Arg114Cys)
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NM_006371.5(CRTAP):c.343C>G (p.Arg115Gly)
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NM_006371.5(CRTAP):c.352_353delinsCT (p.Cys118Leu)
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rs1701317564
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NM_006371.5(CRTAP):c.353G>A (p.Cys118Tyr)
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rs765234021
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NM_006371.5(CRTAP):c.380C>A (p.Pro127Gln)
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rs921862940
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NM_006371.5(CRTAP):c.387C>G (p.Phe129Leu)
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rs778764392
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NM_006371.5(CRTAP):c.400C>A (p.Pro134Thr)
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NM_006371.5(CRTAP):c.412G>A (p.Val138Met)
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NM_006371.5(CRTAP):c.430C>T (p.Arg144Cys)
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NM_006371.5(CRTAP):c.436G>A (p.Glu146Lys)
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NM_006371.5(CRTAP):c.438G>T (p.Glu146Asp)
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NM_006371.5(CRTAP):c.443A>C (p.Tyr148Ser)
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rs1185323876
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NM_006371.5(CRTAP):c.452T>G (p.Leu151Arg)
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rs1405064021
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NM_006371.5(CRTAP):c.471+2C>T
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rs137853943
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NM_006371.5(CRTAP):c.471+8C>G
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rs1215281758
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NM_006371.5(CRTAP):c.473C>G (p.Ala158Gly)
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NM_006371.5(CRTAP):c.517C>G (p.Leu173Val)
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rs778115119
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NM_006371.5(CRTAP):c.518T>C (p.Leu173Pro)
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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)
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rs4076086
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NM_006371.5(CRTAP):c.542T>C (p.Met181Thr)
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rs2125598667
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NM_006371.5(CRTAP):c.544A>C (p.Lys182Gln)
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NM_006371.5(CRTAP):c.602T>G (p.Leu201Arg)
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rs376333603
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NM_006371.5(CRTAP):c.621A>T (p.Glu207Asp)
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NM_006371.5(CRTAP):c.680C>T (p.Thr227Ile)
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rs564175168
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NM_006371.5(CRTAP):c.684C>G (p.Asp228Glu)
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NM_006371.5(CRTAP):c.685A>T (p.Met229Leu)
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NM_006371.5(CRTAP):c.687G>A (p.Met229Ile)
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NM_006371.5(CRTAP):c.703G>A (p.Asp235Asn)
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rs770887829
|
|
NM_006371.5(CRTAP):c.721T>G (p.Tyr241Asp)
|
rs2125600442
|
|
NM_006371.5(CRTAP):c.728G>A (p.Cys243Tyr)
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NM_006371.5(CRTAP):c.733G>A (p.Ala245Thr)
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NM_006371.5(CRTAP):c.73C>A (p.Arg25Ser)
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NM_006371.5(CRTAP):c.756G>C (p.Glu252Asp)
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rs116519163
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NM_006371.5(CRTAP):c.769A>C (p.Lys257Gln)
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NM_006371.5(CRTAP):c.793+12G>T
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NM_006371.5(CRTAP):c.794-3C>T
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NM_006371.5(CRTAP):c.802G>A (p.Val268Ile)
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rs112423184
|
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NM_006371.5(CRTAP):c.83A>G (p.Tyr28Cys)
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|
|
NM_006371.5(CRTAP):c.88C>T (p.Arg30Cys)
|
rs553076085
|
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NM_006371.5(CRTAP):c.896A>G (p.His299Arg)
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|
|
NM_006371.5(CRTAP):c.903_908del (p.Leu301_Gln302del)
|
rs2030205751
|
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NM_006371.5(CRTAP):c.904C>A (p.Gln302Lys)
|
rs2030205875
|
|
NM_006371.5(CRTAP):c.90C>G (p.Arg30=)
|
rs1256135890
|
|
NM_006371.5(CRTAP):c.930C>T (p.Asp310=)
|
rs762039541
|
|
NM_006371.5(CRTAP):c.94A>G (p.Ser32Gly)
|
rs748431852
|
|
NM_006371.5(CRTAP):c.959G>A (p.Ser320Asn)
|
rs2125603844
|
|
NM_006371.5(CRTAP):c.962A>G (p.Tyr321Cys)
|
|
|
NM_006371.5(CRTAP):c.988G>A (p.Val330Ile)
|
rs2030300085
|
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NM_006371.5(CRTAP):c.99C>G (p.Phe33Leu)
|
|
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