NM_016122.3(CEP83):c.837T>C (p.Arg279=)
|
rs4761611
|
0.75856
|
NM_016122.3(CEP83):c.1212A>G (p.Arg404=)
|
rs12426243
|
0.09976
|
NM_016122.3(CEP83):c.626G>A (p.Arg209Gln)
|
rs2271979
|
0.06722
|
NM_016122.3(CEP83):c.826C>T (p.Arg276Trp)
|
rs74340001
|
0.04663
|
NM_016122.3(CEP83):c.1411C>T (p.Leu471=)
|
rs139046818
|
0.01207
|
NM_016122.3(CEP83):c.437C>T (p.Ala146Val)
|
rs115988985
|
0.01012
|
NM_016122.3(CEP83):c.408T>C (p.Asn136=)
|
rs148769208
|
0.00729
|
NM_016122.3(CEP83):c.324+12T>A
|
rs200764782
|
0.00370
|
NM_016122.3(CEP83):c.1203C>T (p.Leu401=)
|
rs189675715
|
0.00239
|
NM_016122.3(CEP83):c.835C>T (p.Arg279Cys)
|
rs79068264
|
0.00228
|
NM_016122.3(CEP83):c.1232T>C (p.Met411Thr)
|
rs199617764
|
0.00216
|
NM_016122.3(CEP83):c.1582T>C (p.Leu528=)
|
rs199593910
|
0.00204
|
NM_016122.3(CEP83):c.417+3A>G
|
rs181264654
|
0.00187
|
NM_016122.3(CEP83):c.1565T>G (p.Leu522Arg)
|
rs150415429
|
0.00133
|
NM_016122.3(CEP83):c.1151A>G (p.Lys384Arg)
|
rs185058802
|
0.00076
|
NM_016122.3(CEP83):c.1634G>A (p.Arg545His)
|
rs187309637
|
0.00076
|
NM_016122.3(CEP83):c.76G>A (p.Gly26Ser)
|
rs199871798
|
0.00044
|
NM_016122.3(CEP83):c.1427G>T (p.Ser476Ile)
|
rs568769580
|
0.00038
|
NM_016122.3(CEP83):c.1120C>T (p.Arg374Cys)
|
rs200860374
|
0.00025
|
NM_016122.3(CEP83):c.549+18C>T
|
rs376338939
|
0.00023
|
NM_016122.3(CEP83):c.1035A>G (p.Gln345=)
|
rs200885817
|
0.00021
|
NM_016122.3(CEP83):c.1304T>A (p.Met435Lys)
|
rs185212560
|
0.00016
|
NM_016122.3(CEP83):c.1554A>G (p.Glu518=)
|
rs369224554
|
0.00016
|
NM_016122.3(CEP83):c.1660A>T (p.Asn554Tyr)
|
rs200232390
|
0.00016
|
NM_016122.3(CEP83):c.1009C>A (p.Leu337Ile)
|
rs201914992
|
0.00014
|
NM_016122.3(CEP83):c.1560G>A (p.Ala520=)
|
rs375761489
|
0.00014
|
NM_016122.3(CEP83):c.1118A>T (p.Asp373Val)
|
rs200971081
|
0.00013
|
NM_016122.3(CEP83):c.1280A>G (p.Glu427Gly)
|
rs199501110
|
0.00013
|
NM_016122.3(CEP83):c.257T>A (p.Leu86His)
|
rs199598238
|
0.00013
|
NM_016122.3(CEP83):c.696G>A (p.Ala232=)
|
rs199828197
|
0.00013
|
NM_016122.3(CEP83):c.1707+8G>A
|
rs370955378
|
0.00011
|
NM_016122.3(CEP83):c.1812-7T>C
|
rs780431588
|
0.00011
|
NM_016122.3(CEP83):c.549+15A>G
|
rs182004502
|
0.00011
|
NM_016122.3(CEP83):c.1889G>A (p.Arg630Gln)
|
rs192349282
|
0.00010
|
NM_016122.3(CEP83):c.796C>G (p.Leu266Val)
|
rs568103955
|
0.00010
|
NM_016122.3(CEP83):c.1812-8T>C
|
rs747379878
|
0.00009
|
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter)
|
rs369483167
|
0.00009
|
NM_016122.3(CEP83):c.936A>G (p.Val312=)
|
rs542274719
|
0.00009
|
NM_016122.3(CEP83):c.352C>T (p.Leu118=)
|
rs779860994
|
0.00008
|
NM_016122.3(CEP83):c.1419+14G>A
|
rs373203051
|
0.00007
|
NM_016122.3(CEP83):c.1708-20G>A
|
rs183937564
|
0.00007
|
NM_016122.3(CEP83):c.604G>C (p.Asp202His)
|
rs200161629
|
0.00007
|
NM_016122.3(CEP83):c.1655A>T (p.Lys552Met)
|
rs377015196
|
0.00006
|
NM_016122.3(CEP83):c.786A>G (p.Thr262=)
|
rs200666634
|
0.00006
|
NM_016122.3(CEP83):c.907C>T (p.Arg303Ter)
|
rs757301110
|
0.00006
|
NM_016122.3(CEP83):c.1339G>A (p.Val447Ile)
|
rs748658606
|
0.00005
|
NM_016122.3(CEP83):c.417+13T>C
|
rs201367920
|
0.00005
|
NM_016122.3(CEP83):c.87G>A (p.Ser29=)
|
rs769834256
|
0.00005
|
NM_016122.3(CEP83):c.933+14T>C
|
rs1041811776
|
0.00005
|
NM_016122.3(CEP83):c.1366G>A (p.Val456Met)
|
rs183654043
|
0.00004
|
NM_016122.3(CEP83):c.1383A>G (p.Ala461=)
|
rs768081253
|
0.00004
|
NM_016122.3(CEP83):c.1590G>A (p.Glu530=)
|
rs552958562
|
0.00004
|
NM_016122.3(CEP83):c.1633C>T (p.Arg545Cys)
|
rs374773620
|
0.00004
|
NM_016122.3(CEP83):c.1713A>G (p.Lys571=)
|
rs777978756
|
0.00004
|
NM_016122.3(CEP83):c.1776A>G (p.Lys592=)
|
rs369559006
|
0.00004
|
NM_016122.3(CEP83):c.1983A>G (p.Pro661=)
|
rs755790354
|
0.00004
|
NM_016122.3(CEP83):c.24T>C (p.Asp8=)
|
rs371676456
|
0.00004
|
NM_016122.3(CEP83):c.50C>T (p.Pro17Leu)
|
rs980569493
|
0.00004
|
NM_016122.3(CEP83):c.961C>T (p.Leu321=)
|
rs768055624
|
0.00004
|
NM_016122.3(CEP83):c.1016G>C (p.Arg339Thr)
|
rs530002505
|
0.00003
|
NM_016122.3(CEP83):c.1194G>A (p.Lys398=)
|
rs1454522956
|
0.00003
|
NM_016122.3(CEP83):c.120A>G (p.Leu40=)
|
rs746359176
|
0.00003
|
NM_016122.3(CEP83):c.1292G>A (p.Arg431Gln)
|
rs759737051
|
0.00003
|
NM_016122.3(CEP83):c.1419+4T>G
|
rs753727360
|
0.00003
|
NM_016122.3(CEP83):c.1470T>C (p.Asn490=)
|
rs780167307
|
0.00003
|
NM_016122.3(CEP83):c.1685G>A (p.Arg562Gln)
|
rs182648141
|
0.00003
|
NM_016122.3(CEP83):c.2035C>T (p.Arg679Cys)
|
rs771273063
|
0.00003
|
NM_016122.3(CEP83):c.434G>T (p.Arg145Ile)
|
rs1320042850
|
0.00003
|
NM_016122.3(CEP83):c.671T>C (p.Leu224Ser)
|
rs370654785
|
0.00003
|
NM_016122.3(CEP83):c.908G>A (p.Arg303Gln)
|
rs754009093
|
0.00003
|
NM_016122.3(CEP83):c.1084G>A (p.Val362Ile)
|
rs1421579602
|
0.00002
|
NM_016122.3(CEP83):c.1132C>T (p.Arg378Cys)
|
rs373382478
|
0.00002
|
NM_016122.3(CEP83):c.1194-13T>G
|
rs759397787
|
0.00002
|
NM_016122.3(CEP83):c.1260A>G (p.Gln420=)
|
rs530508070
|
0.00002
|
NM_016122.3(CEP83):c.1323G>A (p.Arg441=)
|
rs1202585370
|
0.00002
|
NM_016122.3(CEP83):c.1347A>G (p.Leu449=)
|
rs1325616604
|
0.00002
|
NM_016122.3(CEP83):c.153A>T (p.Thr51=)
|
rs777508313
|
0.00002
|
NM_016122.3(CEP83):c.1819G>A (p.Val607Ile)
|
rs750912882
|
0.00002
|
NM_016122.3(CEP83):c.2016A>G (p.Gln672=)
|
rs949604118
|
0.00002
|
NM_016122.3(CEP83):c.2031A>G (p.Leu677=)
|
rs1555214323
|
0.00002
|
NM_016122.3(CEP83):c.21C>T (p.Thr7=)
|
rs765216312
|
0.00002
|
NM_016122.3(CEP83):c.388A>G (p.Met130Val)
|
rs756155321
|
0.00002
|
NM_016122.3(CEP83):c.397C>T (p.Arg133Cys)
|
rs781589254
|
0.00002
|
NM_016122.3(CEP83):c.454C>T (p.Arg152Cys)
|
rs377256366
|
0.00002
|
NM_016122.3(CEP83):c.549+19G>A
|
rs1431950751
|
0.00002
|
NM_016122.3(CEP83):c.563A>C (p.Glu188Ala)
|
rs898088818
|
0.00002
|
NM_016122.3(CEP83):c.611C>G (p.Thr204Arg)
|
rs749493316
|
0.00002
|
NM_016122.3(CEP83):c.653T>C (p.Val218Ala)
|
rs761638508
|
0.00002
|
NM_016122.3(CEP83):c.695C>T (p.Ala232Val)
|
rs376769010
|
0.00002
|
NM_016122.3(CEP83):c.728C>T (p.Ala243Val)
|
rs747518082
|
0.00002
|
NM_016122.3(CEP83):c.749G>T (p.Arg250Ile)
|
rs745525513
|
0.00002
|
NM_016122.3(CEP83):c.801+19C>A
|
rs1383301423
|
0.00002
|
NM_016122.3(CEP83):c.802-15T>C
|
rs1017125059
|
0.00002
|
NM_016122.3(CEP83):c.852A>G (p.Leu284=)
|
rs370191290
|
0.00002
|
NM_016122.3(CEP83):c.932A>C (p.Lys311Thr)
|
rs375493761
|
0.00002
|
NM_016122.3(CEP83):c.1011A>G (p.Leu337=)
|
rs761510362
|
0.00001
|
NM_016122.3(CEP83):c.1028A>G (p.Lys343Arg)
|
rs1207972213
|
0.00001
|
NM_016122.3(CEP83):c.1048+6A>G
|
rs562683007
|
0.00001
|
NM_016122.3(CEP83):c.1056G>A (p.Gln352=)
|
rs1370476857
|
0.00001
|
NM_016122.3(CEP83):c.117G>C (p.Arg39Ser)
|
rs772413915
|
0.00001
|
NM_016122.3(CEP83):c.1183C>G (p.Gln395Glu)
|
rs763560797
|
0.00001
|
NM_016122.3(CEP83):c.121C>T (p.Arg41Ter)
|
rs587777486
|
0.00001
|
NM_016122.3(CEP83):c.1243C>G (p.His415Asp)
|
rs752099250
|
0.00001
|
NM_016122.3(CEP83):c.1244A>G (p.His415Arg)
|
rs202152669
|
0.00001
|
NM_016122.3(CEP83):c.124T>C (p.Cys42Arg)
|
rs778603039
|
0.00001
|
NM_016122.3(CEP83):c.1273C>G (p.Gln425Glu)
|
rs370718016
|
0.00001
|
NM_016122.3(CEP83):c.1284G>A (p.Glu428=)
|
rs775468824
|
0.00001
|
NM_016122.3(CEP83):c.1318A>T (p.Thr440Ser)
|
rs1483402500
|
0.00001
|
NM_016122.3(CEP83):c.1365T>C (p.Ile455=)
|
rs529684300
|
0.00001
|
NM_016122.3(CEP83):c.1369A>G (p.Thr457Ala)
|
rs1200906037
|
0.00001
|
NM_016122.3(CEP83):c.1451C>A (p.Ser484Ter)
|
rs777412559
|
0.00001
|
NM_016122.3(CEP83):c.1531C>T (p.Arg511Ter)
|
rs1162641847
|
0.00001
|
NM_016122.3(CEP83):c.1544G>A (p.Ser515Asn)
|
rs1416850005
|
0.00001
|
NM_016122.3(CEP83):c.1649A>G (p.Glu550Gly)
|
rs2059234849
|
0.00001
|
NM_016122.3(CEP83):c.166C>T (p.His56Tyr)
|
rs2063937105
|
0.00001
|
NM_016122.3(CEP83):c.173+3A>G
|
rs1008800566
|
0.00001
|
NM_016122.3(CEP83):c.174-12A>T
|
rs772447431
|
0.00001
|
NM_016122.3(CEP83):c.174-16C>T
|
rs1463903103
|
0.00001
|
NM_016122.3(CEP83):c.1812-4T>A
|
rs1314409801
|
0.00001
|
NM_016122.3(CEP83):c.1867C>T (p.Gln623Ter)
|
rs1198459012
|
0.00001
|
NM_016122.3(CEP83):c.1878T>C (p.His626=)
|
rs1236967361
|
0.00001
|
NM_016122.3(CEP83):c.1888C>T (p.Arg630Ter)
|
rs1207804224
|
0.00001
|
NM_016122.3(CEP83):c.1982C>T (p.Pro661Leu)
|
rs369393274
|
0.00001
|
NM_016122.3(CEP83):c.2000A>G (p.Gln667Arg)
|
rs752381662
|
0.00001
|
NM_016122.3(CEP83):c.2027C>G (p.Ser676Cys)
|
rs369894676
|
0.00001
|
NM_016122.3(CEP83):c.2043A>T (p.Arg681Ser)
|
rs773705721
|
0.00001
|
NM_016122.3(CEP83):c.2045T>C (p.Leu682Pro)
|
rs1212565080
|
0.00001
|
NM_016122.3(CEP83):c.241C>T (p.Gln81Ter)
|
rs368619022
|
0.00001
|
NM_016122.3(CEP83):c.258C>T (p.Leu86=)
|
rs775780724
|
0.00001
|
NM_016122.3(CEP83):c.263T>C (p.Leu88Pro)
|
rs2063896707
|
0.00001
|
NM_016122.3(CEP83):c.318A>G (p.Lys106=)
|
rs201068376
|
0.00001
|
NM_016122.3(CEP83):c.324+18A>C
|
rs1406029531
|
0.00001
|
NM_016122.3(CEP83):c.417+13del
|
rs1261616795
|
0.00001
|
NM_016122.3(CEP83):c.41A>G (p.Asn14Ser)
|
rs1267428590
|
0.00001
|
NM_016122.3(CEP83):c.422T>C (p.Val141Ala)
|
rs765494844
|
0.00001
|
NM_016122.3(CEP83):c.431A>G (p.Tyr144Cys)
|
rs757820515
|
0.00001
|
NM_016122.3(CEP83):c.456C>A (p.Arg152=)
|
rs759273602
|
0.00001
|
NM_016122.3(CEP83):c.479C>T (p.Ser160Leu)
|
rs747045010
|
0.00001
|
NM_016122.3(CEP83):c.480A>G (p.Ser160=)
|
rs780444539
|
0.00001
|
NM_016122.3(CEP83):c.511C>T (p.Arg171Cys)
|
rs372235599
|
0.00001
|
NM_016122.3(CEP83):c.512G>A (p.Arg171His)
|
rs779396873
|
0.00001
|
NM_016122.3(CEP83):c.550-1G>A
|
rs1555237944
|
0.00001
|
NM_016122.3(CEP83):c.569A>G (p.Asp190Gly)
|
rs2061696691
|
0.00001
|
NM_016122.3(CEP83):c.571_573del (p.Lys191del)
|
rs761860782
|
0.00001
|
NM_016122.3(CEP83):c.581T>C (p.Leu194Pro)
|
rs765908199
|
0.00001
|
NM_016122.3(CEP83):c.582A>G (p.Leu194=)
|
rs762860899
|
0.00001
|
NM_016122.3(CEP83):c.583C>T (p.Arg195Cys)
|
rs550020211
|
0.00001
|
NM_016122.3(CEP83):c.587A>G (p.Asn196Ser)
|
rs772202501
|
0.00001
|
NM_016122.3(CEP83):c.60A>G (p.Gly20=)
|
rs764043904
|
0.00001
|
NM_016122.3(CEP83):c.612A>G (p.Thr204=)
|
rs778151984
|
0.00001
|
NM_016122.3(CEP83):c.614A>G (p.Lys205Arg)
|
rs1566032936
|
0.00001
|
NM_016122.3(CEP83):c.61G>A (p.Asp21Asn)
|
rs1003708280
|
0.00001
|
NM_016122.3(CEP83):c.629T>G (p.Val210Gly)
|
rs1370385732
|
0.00001
|
NM_016122.3(CEP83):c.643C>T (p.Arg215Ter)
|
rs750092874
|
0.00001
|
NM_016122.3(CEP83):c.661T>C (p.Cys221Arg)
|
rs1355622201
|
0.00001
|
NM_016122.3(CEP83):c.682G>A (p.Glu228Lys)
|
rs770968672
|
0.00001
|
NM_016122.3(CEP83):c.701T>C (p.Leu234Ser)
|
rs2061688764
|
0.00001
|
NM_016122.3(CEP83):c.731A>G (p.Gln244Arg)
|
rs1340583178
|
0.00001
|
NM_016122.3(CEP83):c.760C>T (p.Arg254Trp)
|
rs373726888
|
0.00001
|
NM_016122.3(CEP83):c.772G>C (p.Glu258Gln)
|
rs201682129
|
0.00001
|
NM_016122.3(CEP83):c.790A>G (p.Arg264Gly)
|
rs1197540570
|
0.00001
|
NM_016122.3(CEP83):c.792A>G (p.Arg264=)
|
rs773428280
|
0.00001
|
NM_016122.3(CEP83):c.827G>A (p.Arg276Gln)
|
rs772661302
|
0.00001
|
NM_016122.3(CEP83):c.842A>G (p.Glu281Gly)
|
rs1383193849
|
0.00001
|
NM_016122.3(CEP83):c.855A>G (p.Gln285=)
|
rs1277472976
|
0.00001
|
NM_016122.3(CEP83):c.860G>A (p.Ser287Asn)
|
rs893839841
|
0.00001
|
NM_016122.3(CEP83):c.896A>G (p.His299Arg)
|
rs751492070
|
0.00001
|
NM_016122.3(CEP83):c.921A>G (p.Thr307=)
|
rs911675671
|
0.00001
|
NM_016122.3(CEP83):c.933+12T>C
|
rs747884007
|
0.00001
|
NM_016122.3(CEP83):c.934G>A (p.Val312Ile)
|
rs367764494
|
0.00001
|
NC_000012.11:g.(?_94634261)_(94806266_?)dup
|
|
|
NC_000012.11:g.(?_94794606)_(94806266_?)del
|
|
|
NM_016122.3(CEP83):c.1022G>C (p.Arg341Thr)
|
|
|
NM_016122.3(CEP83):c.1036A>G (p.Ser346Gly)
|
|
|
NM_016122.3(CEP83):c.1048+17C>T
|
|
|
NM_016122.3(CEP83):c.1049-11A>G
|
rs1025973539
|
|
NM_016122.3(CEP83):c.1049-19T>G
|
rs886076683
|
|
NM_016122.3(CEP83):c.1049G>A (p.Gly350Glu)
|
|
|
NM_016122.3(CEP83):c.1055A>G (p.Gln352Arg)
|
rs2137016531
|
|
NM_016122.3(CEP83):c.1060_1063del (p.Asp354fs)
|
rs1276979881
|
|
NM_016122.3(CEP83):c.1064A>T (p.Asn355Ile)
|
|
|
NM_016122.3(CEP83):c.1067_1068insTA (p.Glu356fs)
|
rs1064794347
|
|
NM_016122.3(CEP83):c.1101G>C (p.Val367=)
|
rs2137015997
|
|
NM_016122.3(CEP83):c.1112A>C (p.Glu371Ala)
|
|
|
NM_016122.3(CEP83):c.1116G>A (p.Lys372=)
|
rs2137015791
|
|
NM_016122.3(CEP83):c.1126T>C (p.Leu376=)
|
|
|
NM_016122.3(CEP83):c.1131dup (p.Arg378fs)
|
rs2061113374
|
|
NM_016122.3(CEP83):c.114A>G (p.Glu38=)
|
|
|
NM_016122.3(CEP83):c.1151AAG[2] (p.Glu386del)
|
|
|
NM_016122.3(CEP83):c.1160G>A (p.Gly387Asp)
|
|
|
NM_016122.3(CEP83):c.1165C>T (p.Gln389Ter)
|
rs2061111812
|
|
NM_016122.3(CEP83):c.1170del (p.Lys390fs)
|
|
|
NM_016122.3(CEP83):c.1175T>G (p.Val392Gly)
|
rs2137014975
|
|
NM_016122.3(CEP83):c.1177G>A (p.Val393Ile)
|
|
|
NM_016122.3(CEP83):c.1180T>G (p.Leu394Val)
|
|
|
NM_016122.3(CEP83):c.1183C>T (p.Gln395Ter)
|
|
|
NM_016122.3(CEP83):c.1193+10T>C
|
|
|
NM_016122.3(CEP83):c.1193+5G>A
|
rs767362608
|
|
NM_016122.3(CEP83):c.1194-15G>T
|
|
|
NM_016122.3(CEP83):c.1194-15_1194-13del
|
rs2137013138
|
|
NM_016122.3(CEP83):c.1203C>G (p.Leu401=)
|
rs189675715
|
|
NM_016122.3(CEP83):c.1234_1237del (p.Lys412fs)
|
rs780500128
|
|
NM_016122.3(CEP83):c.1243C>A (p.His415Asn)
|
|
|
NM_016122.3(CEP83):c.1263T>C (p.Ser421=)
|
|
|
NM_016122.3(CEP83):c.1281A>G (p.Glu427=)
|
|
|
NM_016122.3(CEP83):c.1291C>T (p.Arg431Trp)
|
rs111647062
|
|
NM_016122.3(CEP83):c.1298C>T (p.Ser433Leu)
|
|
|
NM_016122.3(CEP83):c.1311_1315del (p.Glu437fs)
|
rs1187876547
|
|
NM_016122.3(CEP83):c.1320C>T (p.Thr440=)
|
|
|
NM_016122.3(CEP83):c.1321A>G (p.Arg441Gly)
|
rs577668407
|
|
NM_016122.3(CEP83):c.1327G>T (p.Glu443Ter)
|
|
|
NM_016122.3(CEP83):c.1343+12A>G
|
|
|
NM_016122.3(CEP83):c.1343+18A>G
|
rs540895757
|
|
NM_016122.3(CEP83):c.1343+8A>T
|
|
|
NM_016122.3(CEP83):c.1344-11G>A
|
rs2136541763
|
|
NM_016122.3(CEP83):c.1344-4T>G
|
rs766543884
|
|
NM_016122.3(CEP83):c.1344G>C (p.Arg448Ser)
|
rs901969513
|
|
NM_016122.3(CEP83):c.1354C>A (p.Gln452Lys)
|
rs190452572
|
|
NM_016122.3(CEP83):c.1392A>G (p.Glu464=)
|
rs2136541098
|
|
NM_016122.3(CEP83):c.1394A>C (p.Lys465Thr)
|
|
|
NM_016122.3(CEP83):c.1400A>G (p.Glu467Gly)
|
rs1281820117
|
|
NM_016122.3(CEP83):c.1413A>G (p.Leu471=)
|
|
|
NM_016122.3(CEP83):c.1414A>C (p.Lys472Gln)
|
|
|
NM_016122.3(CEP83):c.1419+13C>T
|
|
|
NM_016122.3(CEP83):c.1419+17G>T
|
|
|
NM_016122.3(CEP83):c.1420-14del
|
rs753878262
|
|
NM_016122.3(CEP83):c.1420-17C>G
|
rs2136516500
|
|
NM_016122.3(CEP83):c.1437_1438delinsAT (p.Ile480Phe)
|
rs2059330819
|
|
NM_016122.3(CEP83):c.1440C>G (p.Ile480Met)
|
rs2136515778
|
|
NM_016122.3(CEP83):c.1446G>A (p.Val482=)
|
|
|
NM_016122.3(CEP83):c.1449T>A (p.Thr483=)
|
|
|
NM_016122.3(CEP83):c.1462_1465del (p.Ser488fs)
|
rs2136515432
|
|
NM_016122.3(CEP83):c.1486A>G (p.Asn496Asp)
|
rs1232030056
|
|
NM_016122.3(CEP83):c.1514G>A (p.Arg505Lys)
|
|
|
NM_016122.3(CEP83):c.152C>T (p.Thr51Ile)
|
rs1336325509
|
|
NM_016122.3(CEP83):c.1532G>A (p.Arg511Gln)
|
rs587777487
|
|
NM_016122.3(CEP83):c.1532G>C (p.Arg511Pro)
|
rs587777487
|
|
NM_016122.3(CEP83):c.1532G>T (p.Arg511Leu)
|
rs587777487
|
|
NM_016122.3(CEP83):c.1537T>A (p.Phe513Ile)
|
rs2136514603
|
|
NM_016122.3(CEP83):c.1539T>C (p.Phe513=)
|
rs2136514567
|
|
NM_016122.3(CEP83):c.1542A>G (p.Arg514=)
|
|
|
NM_016122.3(CEP83):c.1542_1558del (p.Arg514fs)
|
rs2136514301
|
|
NM_016122.3(CEP83):c.155T>C (p.Leu52Pro)
|
rs1464832161
|
|
NM_016122.3(CEP83):c.1564C>T (p.Leu522=)
|
|
|
NM_016122.3(CEP83):c.1566A>G (p.Leu522=)
|
|
|
NM_016122.3(CEP83):c.1577+13C>T
|
|
|
NM_016122.3(CEP83):c.1577+9T>G
|
rs2059325161
|
|
NM_016122.3(CEP83):c.1578-14C>T
|
rs2059238832
|
|
NM_016122.3(CEP83):c.1578-17A>G
|
|
|
NM_016122.3(CEP83):c.1578-3C>T
|
|
|
NM_016122.3(CEP83):c.1580del (p.Thr527fs)
|
|
|
NM_016122.3(CEP83):c.1604G>T (p.Trp535Leu)
|
|
|
NM_016122.3(CEP83):c.1617G>A (p.Lys539=)
|
|
|
NM_016122.3(CEP83):c.1621A>T (p.Lys541Ter)
|
rs2136488957
|
|
NM_016122.3(CEP83):c.1645A>G (p.Arg549Gly)
|
|
|
NM_016122.3(CEP83):c.1661A>G (p.Asn554Ser)
|
|
|
NM_016122.3(CEP83):c.166C>A (p.His56Asn)
|
rs2063937105
|
|
NM_016122.3(CEP83):c.1680G>T (p.Leu560=)
|
rs747886072
|
|
NM_016122.3(CEP83):c.1684C>T (p.Arg562Ter)
|
rs906852829
|
|
NM_016122.3(CEP83):c.1693A>G (p.Ile565Val)
|
|
|
NM_016122.3(CEP83):c.1707+15T>C
|
|
|
NM_016122.3(CEP83):c.1708-5T>C
|
rs1970107246
|
|
NM_016122.3(CEP83):c.1729A>T (p.Lys577Ter)
|
|
|
NM_016122.3(CEP83):c.173+18A>G
|
|
|
NM_016122.3(CEP83):c.174-5del
|
rs753511833
|
|
NM_016122.3(CEP83):c.174-5dup
|
rs753511833
|
|
NM_016122.3(CEP83):c.174-8A>C
|
|
|
NM_016122.3(CEP83):c.1761C>A (p.Val587=)
|
rs752114061
|
|
NM_016122.3(CEP83):c.1770A>G (p.Ala590=)
|
|
|
NM_016122.3(CEP83):c.177_197dup (p.His63_Glu69dup)
|
rs755361880
|
|
NM_016122.3(CEP83):c.1783T>C (p.Leu595=)
|
rs764718970
|
|
NM_016122.3(CEP83):c.1791A>G (p.Thr597=)
|
rs1970094652
|
|
NM_016122.3(CEP83):c.1804T>C (p.Leu602=)
|
|
|
NM_016122.3(CEP83):c.1812-20del
|
|
|
NM_016122.3(CEP83):c.1812-6T>C
|
rs2136277072
|
|
NM_016122.3(CEP83):c.1812-9_1812-5del
|
|
|
NM_016122.3(CEP83):c.1824T>C (p.Pro608=)
|
|
|
NM_016122.3(CEP83):c.1842_1853del (p.Gln616_Leu619del)
|
rs2136276664
|
|
NM_016122.3(CEP83):c.1853G>T (p.Arg618Ile)
|
rs2136276642
|
|
NM_016122.3(CEP83):c.1863T>C (p.Asp621=)
|
rs1969606999
|
|
NM_016122.3(CEP83):c.1895T>C (p.Leu632Pro)
|
rs1969602482
|
|
NM_016122.3(CEP83):c.1915C>G (p.Pro639Ala)
|
|
|
NM_016122.3(CEP83):c.1930A>G (p.Ile644Val)
|
|
|
NM_016122.3(CEP83):c.1937C>T (p.Pro646Leu)
|
rs1456934142
|
|
NM_016122.3(CEP83):c.1945T>C (p.Phe649Leu)
|
|
|
NM_016122.3(CEP83):c.1948C>T (p.Gln650Ter)
|
|
|
NM_016122.3(CEP83):c.1962G>A (p.Met654Ile)
|
|
|
NM_016122.3(CEP83):c.1971C>T (p.Ser657=)
|
|
|
NM_016122.3(CEP83):c.1973T>G (p.Met658Arg)
|
|
|
NM_016122.3(CEP83):c.1980A>T (p.Leu660=)
|
|
|
NM_016122.3(CEP83):c.1987C>A (p.Pro663Thr)
|
|
|
NM_016122.3(CEP83):c.1988C>T (p.Pro663Leu)
|
|
|
NM_016122.3(CEP83):c.2001+20G>T
|
rs2136275434
|
|
NM_016122.3(CEP83):c.2002-12C>G
|
|
|
NM_016122.3(CEP83):c.2002-15C>G
|
|
|
NM_016122.3(CEP83):c.2002-18del
|
|
|
NM_016122.3(CEP83):c.2007del (p.Glu669fs)
|
rs922686745
|
|
NM_016122.3(CEP83):c.201A>G (p.Gln67=)
|
rs1442068953
|
|
NM_016122.3(CEP83):c.2020G>A (p.Glu674Lys)
|
rs1969381470
|
|
NM_016122.3(CEP83):c.2028T>C (p.Ser676=)
|
|
|
NM_016122.3(CEP83):c.2036G>A (p.Arg679His)
|
|
|
NM_016122.3(CEP83):c.2039A>G (p.Lys680Arg)
|
rs2136266090
|
|
NM_016122.3(CEP83):c.2046A>G (p.Leu682=)
|
rs1593051395
|
|
NM_016122.3(CEP83):c.205G>A (p.Glu69Lys)
|
|
|
NM_016122.3(CEP83):c.2061A>G (p.Thr687=)
|
|
|
NM_016122.3(CEP83):c.2065_2075del (p.Gln689fs)
|
rs1969370890
|
|
NM_016122.3(CEP83):c.2066A>G (p.Gln689Arg)
|
|
|
NM_016122.3(CEP83):c.2076A>G (p.Gln692=)
|
rs2136265647
|
|
NM_016122.3(CEP83):c.2097C>T (p.Ser699=)
|
rs201148634
|
|
NM_016122.3(CEP83):c.2098G>A (p.Gly700Arg)
|
rs753799181
|
|
NM_016122.3(CEP83):c.2099G>A (p.Gly700Glu)
|
rs2136265331
|
|
NM_016122.3(CEP83):c.216C>T (p.His72=)
|
|
|
NM_016122.3(CEP83):c.232C>A (p.Gln78Lys)
|
rs372337825
|
|
NM_016122.3(CEP83):c.232C>G (p.Gln78Glu)
|
rs372337825
|
|
NM_016122.3(CEP83):c.236C>G (p.Thr79Ser)
|
rs928177600
|
|
NM_016122.3(CEP83):c.236C>T (p.Thr79Ile)
|
rs928177600
|
|
NM_016122.3(CEP83):c.246A>G (p.Glu82=)
|
|
|
NM_016122.3(CEP83):c.249A>T (p.Lys83Asn)
|
rs2137783837
|
|
NM_016122.3(CEP83):c.253C>G (p.Gln85Glu)
|
rs2063897316
|
|
NM_016122.3(CEP83):c.256C>T (p.Leu86Phe)
|
rs764215872
|
|
NM_016122.3(CEP83):c.284TAG[1] (p.Val96del)
|
rs1472544597
|
|
NM_016122.3(CEP83):c.286G>T (p.Val96Leu)
|
|
|
NM_016122.3(CEP83):c.288A>T (p.Val96=)
|
|
|
NM_016122.3(CEP83):c.289G>A (p.Glu97Lys)
|
|
|
NM_016122.3(CEP83):c.324+11A>G
|
rs2137782009
|
|
NM_016122.3(CEP83):c.324+20T>C
|
|
|
NM_016122.3(CEP83):c.324+8A>G
|
|
|
NM_016122.3(CEP83):c.325-12T>G
|
rs2063358599
|
|
NM_016122.3(CEP83):c.325-7A>G
|
|
|
NM_016122.3(CEP83):c.325-9A>G
|
|
|
NM_016122.3(CEP83):c.343T>C (p.Leu115=)
|
|
|
NM_016122.3(CEP83):c.360C>A (p.Ala120=)
|
|
|
NM_016122.3(CEP83):c.369A>G (p.Gln123=)
|
|
|
NM_016122.3(CEP83):c.391A>G (p.Arg131Gly)
|
rs1207892286
|
|
NM_016122.3(CEP83):c.398G>A (p.Arg133His)
|
|
|
NM_016122.3(CEP83):c.404G>C (p.Arg135Thr)
|
|
|
NM_016122.3(CEP83):c.412G>A (p.Asp138Asn)
|
rs2137619045
|
|
NM_016122.3(CEP83):c.414T>C (p.Asp138=)
|
|
|
NM_016122.3(CEP83):c.417+12A>G
|
|
|
NM_016122.3(CEP83):c.417+16T>C
|
|
|
NM_016122.3(CEP83):c.418-13A>G
|
rs1254452772
|
|
NM_016122.3(CEP83):c.418-15G>A
|
|
|
NM_016122.3(CEP83):c.418-8C>T
|
|
|
NM_016122.3(CEP83):c.428A>C (p.Lys143Thr)
|
|
|
NM_016122.3(CEP83):c.445A>G (p.Asn149Asp)
|
|
|
NM_016122.3(CEP83):c.455G>T (p.Arg152Leu)
|
rs767118598
|
|
NM_016122.3(CEP83):c.462A>G (p.Glu154=)
|
|
|
NM_016122.3(CEP83):c.464A>G (p.His155Arg)
|
rs2137576540
|
|
NM_016122.3(CEP83):c.469T>A (p.Phe157Ile)
|
rs768860397
|
|
NM_016122.3(CEP83):c.474C>G (p.Leu158=)
|
|
|
NM_016122.3(CEP83):c.485T>A (p.Phe162Tyr)
|
|
|
NM_016122.3(CEP83):c.48T>G (p.Phe16Leu)
|
|
|
NM_016122.3(CEP83):c.490C>G (p.His164Asp)
|
|
|
NM_016122.3(CEP83):c.495G>A (p.Gln165=)
|
|
|
NM_016122.3(CEP83):c.497A>C (p.Lys166Thr)
|
rs2137575785
|
|
NM_016122.3(CEP83):c.499G>T (p.Glu167Ter)
|
rs2137575733
|
|
NM_016122.3(CEP83):c.507T>C (p.Tyr169=)
|
|
|
NM_016122.3(CEP83):c.508G>A (p.Ala170Thr)
|
|
|
NM_016122.3(CEP83):c.525A>G (p.Glu175=)
|
|
|
NM_016122.3(CEP83):c.535A>C (p.Lys179Gln)
|
rs2137574851
|
|
NM_016122.3(CEP83):c.540T>C (p.Tyr180=)
|
rs2063212184
|
|
NM_016122.3(CEP83):c.549+14T>C
|
|
|
NM_016122.3(CEP83):c.565G>A (p.Glu189Lys)
|
|
|
NM_016122.3(CEP83):c.578A>G (p.Glu193Gly)
|
|
|
NM_016122.3(CEP83):c.584G>A (p.Arg195His)
|
rs201341346
|
|
NM_016122.3(CEP83):c.584G>T (p.Arg195Leu)
|
rs201341346
|
|
NM_016122.3(CEP83):c.606del (p.Leu203fs)
|
rs2137174483
|
|
NM_016122.3(CEP83):c.607C>T (p.Leu203Phe)
|
|
|
NM_016122.3(CEP83):c.613A>G (p.Lys205Glu)
|
rs770141064
|
|
NM_016122.3(CEP83):c.618C>G (p.Asp206Glu)
|
rs2137174153
|
|
NM_016122.3(CEP83):c.639T>C (p.Leu213=)
|
|
|
NM_016122.3(CEP83):c.643C>G (p.Arg215Gly)
|
rs750092874
|
|
NM_016122.3(CEP83):c.644G>A (p.Arg215Gln)
|
rs1482040800
|
|
NM_016122.3(CEP83):c.651A>G (p.Lys217=)
|
|
|
NM_016122.3(CEP83):c.655T>C (p.Tyr219His)
|
|
|
NM_016122.3(CEP83):c.662G>A (p.Cys221Tyr)
|
rs1289383879
|
|
NM_016122.3(CEP83):c.690A>T (p.Glu230Asp)
|
rs763230501
|
|
NM_016122.3(CEP83):c.706G>A (p.Ala236Thr)
|
rs2061688656
|
|
NM_016122.3(CEP83):c.711A>G (p.Glu237=)
|
|
|
NM_016122.3(CEP83):c.712A>G (p.Lys238Glu)
|
rs777216890
|
|
NM_016122.3(CEP83):c.737A>G (p.Glu246Gly)
|
rs2061686966
|
|
NM_016122.3(CEP83):c.741T>C (p.Asn247=)
|
|
|
NM_016122.3(CEP83):c.742G>A (p.Ala248Thr)
|
rs2061686704
|
|
NM_016122.3(CEP83):c.764A>G (p.Gln255Arg)
|
rs2061685409
|
|
NM_016122.3(CEP83):c.786A>T (p.Thr262=)
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NM_016122.3(CEP83):c.801+16C>T
|
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NM_016122.3(CEP83):c.801+20C>G
|
rs747525069
|
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NM_016122.3(CEP83):c.801+7T>G
|
rs2137170599
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NM_016122.3(CEP83):c.802-13G>T
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NM_016122.3(CEP83):c.802-18A>G
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NM_016122.3(CEP83):c.802-7A>G
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NM_016122.3(CEP83):c.802-9G>A
|
rs2061516640
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NM_016122.3(CEP83):c.810A>C (p.Lys270Asn)
|
rs764377749
|
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NM_016122.3(CEP83):c.812A>C (p.Gln271Pro)
|
rs2061515059
|
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NM_016122.3(CEP83):c.827G>C (p.Arg276Pro)
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NM_016122.3(CEP83):c.831A>G (p.Ala277=)
|
rs2137120833
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NM_016122.3(CEP83):c.836_837inv (p.Arg279His)
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NM_016122.3(CEP83):c.858A>G (p.Ser286=)
|
rs2137120227
|
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NM_016122.3(CEP83):c.873T>C (p.Asn291=)
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NM_016122.3(CEP83):c.888T>C (p.Asn296=)
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NM_016122.3(CEP83):c.895C>A (p.His299Asn)
|
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NM_016122.3(CEP83):c.903T>G (p.Ala301=)
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NM_016122.3(CEP83):c.933+18T>G
|
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NM_016122.3(CEP83):c.933+19C>A
|
rs1228748483
|
|
NM_016122.3(CEP83):c.933+19_933+20del
|
|
|
NM_016122.3(CEP83):c.933+4A>C
|
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NM_016122.3(CEP83):c.933+7T>G
|
|
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NM_016122.3(CEP83):c.940G>T (p.Glu314Ter)
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NM_016122.3(CEP83):c.948A>G (p.Lys316=)
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NM_016122.3(CEP83):c.964G>A (p.Glu322Lys)
|
|
|
NM_016122.3(CEP83):c.980A>G (p.Lys327Arg)
|
rs752116946
|
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NM_016122.3(CEP83):c.984G>C (p.Leu328=)
|
rs2061221198
|
|