NM_014714.4(IFT140):c.1155+223C>T
|
rs11640303
|
0.96635
|
NM_014714.4(IFT140):c.-17G>C
|
rs1894649
|
0.44364
|
NM_014714.4(IFT140):c.148-22A>T
|
rs2236269
|
0.43860
|
NM_014714.4(IFT140):c.-31-52T>A
|
rs743963
|
0.36752
|
NM_014714.4(IFT140):c.147+109G>A
|
rs7192480
|
0.23445
|
NM_014714.4(IFT140):c.491+45G>A
|
rs2273679
|
0.19341
|
NM_014714.4(IFT140):c.635-12G>C
|
rs12447357
|
0.18304
|
NM_014714.4(IFT140):c.147+85_147+86del
|
rs34935994
|
0.08338
|
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile)
|
rs34762152
|
0.08326
|
NM_014714.4(IFT140):c.370-71A>G
|
rs112565100
|
0.07163
|
NM_014714.4(IFT140):c.148-29T>C
|
rs59000332
|
0.05178
|
NM_014714.4(IFT140):c.148-221G>A
|
rs2667682
|
0.03719
|
NM_014714.4(IFT140):c.148-73C>T
|
rs2667683
|
0.03718
|
NM_014714.4(IFT140):c.811-135A>G
|
rs6600154
|
0.03031
|
NM_014714.4(IFT140):c.1156-183A>T
|
rs61620234
|
0.03011
|
NM_014714.4(IFT140):c.1009+58G>A
|
rs73499722
|
0.03002
|
NM_014714.4(IFT140):c.634+182G>A
|
rs73499725
|
0.02978
|
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val)
|
rs8060532
|
0.02699
|
NM_014714.4(IFT140):c.635-183C>T
|
rs140583270
|
0.02490
|
NM_014714.4(IFT140):c.147+192T>C
|
rs111286800
|
0.02465
|
NM_014714.4(IFT140):c.492-14G>A
|
rs75359189
|
0.02409
|
NM_014714.4(IFT140):c.634+199G>A
|
rs79509941
|
0.02406
|
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln)
|
rs35404373
|
0.02210
|
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp)
|
rs8058674
|
0.01985
|
NM_014714.4(IFT140):c.322G>A (p.Val108Met)
|
rs146128830
|
0.00695
|
NM_014714.4(IFT140):c.1524+3A>G
|
rs149791451
|
0.00552
|
NM_014714.4(IFT140):c.492-20C>T
|
rs149012740
|
0.00273
|
NM_014714.4(IFT140):c.1524+14C>G
|
rs369481491
|
0.00241
|
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val)
|
rs139619013
|
0.00196
|
NM_014714.4(IFT140):c.1359+12G>C
|
rs150859038
|
0.00125
|
NM_014714.4(IFT140):c.546C>T (p.Asp182=)
|
rs150014480
|
0.00120
|
NM_014714.4(IFT140):c.-4C>T
|
rs140403660
|
0.00112
|
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln)
|
rs141993139
|
0.00081
|
NM_014714.4(IFT140):c.1083C>T (p.Pro361=)
|
rs143014223
|
0.00077
|
NM_014714.4(IFT140):c.1084G>A (p.Gly362Arg)
|
rs182052267
|
0.00061
|
NM_014714.4(IFT140):c.491+7G>A
|
rs187521755
|
0.00045
|
NM_014714.4(IFT140):c.1359+20G>A
|
rs374488263
|
0.00035
|
NM_014714.4(IFT140):c.369+12C>T
|
rs192986766
|
0.00034
|
NM_014714.4(IFT140):c.1360-14G>A
|
rs369246649
|
0.00032
|
NM_014714.4(IFT140):c.1422A>G (p.Ile474Met)
|
rs559293157
|
0.00027
|
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys)
|
rs141993646
|
0.00027
|
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr)
|
rs148663745
|
0.00026
|
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys)
|
rs148093208
|
0.00022
|
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln)
|
rs145718272
|
0.00021
|
NM_014714.4(IFT140):c.561G>T (p.Lys187Asn)
|
rs139286030
|
0.00021
|
NM_014714.4(IFT140):c.1230G>A (p.Ser410=)
|
rs199840711
|
0.00020
|
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr)
|
rs149642543
|
0.00019
|
NM_014714.4(IFT140):c.1524+8G>A
|
rs369331038
|
0.00017
|
NM_014714.4(IFT140):c.1272G>A (p.Pro424=)
|
rs370562505
|
0.00014
|
NM_014714.4(IFT140):c.194C>T (p.Ala65Val)
|
rs142257947
|
0.00014
|
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu)
|
rs145267929
|
0.00014
|
NM_014714.4(IFT140):c.1220G>A (p.Arg407Gln)
|
rs151198844
|
0.00013
|
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly)
|
rs539181813
|
0.00013
|
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val)
|
rs201949058
|
0.00011
|
NM_014714.4(IFT140):c.634+6G>C
|
rs368229365
|
0.00011
|
NM_014714.4(IFT140):c.1010-19A>G
|
rs369000362
|
0.00010
|
NM_014714.4(IFT140):c.1146G>A (p.Thr382=)
|
rs200975046
|
0.00010
|
NM_014714.4(IFT140):c.128T>C (p.Val43Ala)
|
rs372148301
|
0.00010
|
NM_014714.4(IFT140):c.768G>A (p.Leu256=)
|
rs775181670
|
0.00010
|
NM_014714.4(IFT140):c.823G>A (p.Gly275Arg)
|
rs146163533
|
0.00010
|
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile)
|
rs183261797
|
0.00009
|
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr)
|
rs554065722
|
0.00009
|
NM_014714.4(IFT140):c.633C>T (p.Asp211=)
|
rs201319525
|
0.00009
|
NM_014714.4(IFT140):c.160C>T (p.Pro54Ser)
|
rs771294438
|
0.00008
|
NM_014714.4(IFT140):c.210C>T (p.His70=)
|
rs145160997
|
0.00008
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_014714.4(IFT140):c.1010-10C>T
|
rs376722338
|
0.00007
|
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser)
|
rs778311141
|
0.00007
|
NM_014714.4(IFT140):c.1428T>A (p.Ser476Arg)
|
rs771030841
|
0.00007
|
NM_014714.4(IFT140):c.1010-1G>A
|
rs770185023
|
0.00006
|
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr)
|
rs200292484
|
0.00006
|
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln)
|
rs147556035
|
0.00006
|
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp)
|
rs781160807
|
0.00006
|
NM_014714.4(IFT140):c.1327G>A (p.Asp443Asn)
|
rs538562131
|
0.00006
|
NM_014714.4(IFT140):c.1377G>A (p.Trp459Ter)
|
rs140039128
|
0.00006
|
NM_014714.4(IFT140):c.1401C>T (p.Phe467=)
|
rs368477699
|
0.00006
|
NM_014714.4(IFT140):c.201G>T (p.Leu67=)
|
rs138991209
|
0.00006
|
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser)
|
rs756324852
|
0.00006
|
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser)
|
rs369671309
|
0.00006
|
NM_014714.4(IFT140):c.811-16T>C
|
rs367948949
|
0.00006
|
NM_014714.4(IFT140):c.903-17G>T
|
rs377542255
|
0.00006
|
NM_014714.4(IFT140):c.920G>A (p.Arg307Gln)
|
rs780666037
|
0.00006
|
NM_014714.4(IFT140):c.1200C>T (p.Ser400=)
|
rs778020037
|
0.00005
|
NM_014714.4(IFT140):c.1304G>A (p.Gly435Glu)
|
rs201033016
|
0.00005
|
NM_014714.4(IFT140):c.1520G>T (p.Trp507Leu)
|
rs755959856
|
0.00005
|
NM_014714.4(IFT140):c.594G>A (p.Gly198=)
|
rs754896534
|
0.00005
|
NM_014714.4(IFT140):c.634+12T>C
|
rs747805287
|
0.00005
|
NM_014714.4(IFT140):c.695C>T (p.Thr232Met)
|
rs373258796
|
0.00005
|
NM_014714.4(IFT140):c.832G>A (p.Gly278Ser)
|
rs141986611
|
0.00005
|
NM_014714.4(IFT140):c.1020C>T (p.Ala340=)
|
rs777539406
|
0.00004
|
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn)
|
rs201871050
|
0.00004
|
NM_014714.4(IFT140):c.1169A>G (p.Lys390Arg)
|
rs369998823
|
0.00004
|
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr)
|
rs769337607
|
0.00004
|
NM_014714.4(IFT140):c.1271C>T (p.Pro424Leu)
|
rs780657545
|
0.00004
|
NM_014714.4(IFT140):c.1310C>T (p.Ala437Val)
|
rs199881467
|
0.00004
|
NM_014714.4(IFT140):c.1509A>G (p.Gln503=)
|
rs139385840
|
0.00004
|
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter)
|
rs1257804746
|
0.00004
|
NM_014714.4(IFT140):c.174C>T (p.Val58=)
|
rs769612994
|
0.00004
|
NM_014714.4(IFT140):c.183G>A (p.Pro61=)
|
rs751515057
|
0.00004
|
NM_014714.4(IFT140):c.189G>A (p.Arg63=)
|
rs759832443
|
0.00004
|
NM_014714.4(IFT140):c.291G>A (p.Thr97=)
|
rs774795976
|
0.00004
|
NM_014714.4(IFT140):c.329G>A (p.Arg110His)
|
rs371077545
|
0.00004
|
NM_014714.4(IFT140):c.526G>A (p.Gly176Ser)
|
rs201849591
|
0.00004
|
NM_014714.4(IFT140):c.593G>C (p.Gly198Ala)
|
rs983329531
|
0.00004
|
NM_014714.4(IFT140):c.628A>G (p.Met210Val)
|
rs749432087
|
0.00004
|
NM_014714.4(IFT140):c.69G>T (p.Trp23Cys)
|
rs139141440
|
0.00004
|
NM_014714.4(IFT140):c.708G>A (p.Leu236=)
|
rs200076064
|
0.00004
|
NM_014714.4(IFT140):c.811-10C>T
|
rs781747985
|
0.00004
|
NM_014714.4(IFT140):c.811-19C>T
|
rs568239635
|
0.00004
|
NM_014714.4(IFT140):c.811-7C>T
|
rs751897595
|
0.00004
|
NM_014714.4(IFT140):c.903-5T>G
|
rs900599017
|
0.00004
|
NM_014714.4(IFT140):c.1126G>A (p.Glu376Lys)
|
rs200349591
|
0.00003
|
NM_014714.4(IFT140):c.1145C>T (p.Thr382Met)
|
rs780000949
|
0.00003
|
NM_014714.4(IFT140):c.126C>T (p.Ser42=)
|
rs753351192
|
0.00003
|
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe)
|
rs764912104
|
0.00003
|
NM_014714.4(IFT140):c.1330A>G (p.Met444Val)
|
rs749322722
|
0.00003
|
NM_014714.4(IFT140):c.1359+9C>T
|
rs371341236
|
0.00003
|
NM_014714.4(IFT140):c.1368C>T (p.Val456=)
|
rs561657958
|
0.00003
|
NM_014714.4(IFT140):c.1432+18G>A
|
rs374262499
|
0.00003
|
NM_014714.4(IFT140):c.1479C>T (p.Asn493=)
|
rs373191298
|
0.00003
|
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met)
|
rs764537319
|
0.00003
|
NM_014714.4(IFT140):c.215C>T (p.Thr72Met)
|
rs774892063
|
0.00003
|
NM_014714.4(IFT140):c.438C>T (p.His146=)
|
rs564988341
|
0.00003
|
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr)
|
rs145551546
|
0.00003
|
NM_014714.4(IFT140):c.601G>A (p.Glu201Lys)
|
rs367721062
|
0.00003
|
NM_014714.4(IFT140):c.657G>A (p.Glu219=)
|
rs757028149
|
0.00003
|
NM_014714.4(IFT140):c.684C>T (p.Ser228=)
|
rs765361599
|
0.00003
|
NM_014714.4(IFT140):c.696G>A (p.Thr232=)
|
rs144087201
|
0.00003
|
NM_014714.4(IFT140):c.886G>A (p.Gly296Arg)
|
rs574450870
|
0.00003
|
NM_014714.4(IFT140):c.1115A>G (p.Gln372Arg)
|
rs1555491988
|
0.00002
|
NM_014714.4(IFT140):c.1147C>T (p.Gln383Ter)
|
rs1206753537
|
0.00002
|
NM_014714.4(IFT140):c.1155+15G>A
|
rs764275810
|
0.00002
|
NM_014714.4(IFT140):c.1242C>G (p.His414Gln)
|
rs142143011
|
0.00002
|
NM_014714.4(IFT140):c.127G>A (p.Val43Met)
|
rs150649451
|
0.00002
|
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr)
|
rs373106880
|
0.00002
|
NM_014714.4(IFT140):c.1359+10G>A
|
rs765870382
|
0.00002
|
NM_014714.4(IFT140):c.1359+15G>A
|
rs371515559
|
0.00002
|
NM_014714.4(IFT140):c.1381G>A (p.Gly461Arg)
|
rs146049665
|
0.00002
|
NM_014714.4(IFT140):c.156C>T (p.Cys52=)
|
rs759512538
|
0.00002
|
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu)
|
rs772757427
|
0.00002
|
NM_014714.4(IFT140):c.312C>T (p.Ala104=)
|
rs138263672
|
0.00002
|
NM_014714.4(IFT140):c.357G>C (p.Leu119=)
|
rs2035838651
|
0.00002
|
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu)
|
rs542803163
|
0.00002
|
NM_014714.4(IFT140):c.369+13G>A
|
rs775756737
|
0.00002
|
NM_014714.4(IFT140):c.369+14C>T
|
rs766013600
|
0.00002
|
NM_014714.4(IFT140):c.423G>A (p.Thr141=)
|
rs769704872
|
0.00002
|
NM_014714.4(IFT140):c.490G>A (p.Glu164Lys)
|
rs559314300
|
0.00002
|
NM_014714.4(IFT140):c.56C>T (p.Ser19Leu)
|
rs766380874
|
0.00002
|
NM_014714.4(IFT140):c.600C>T (p.His200=)
|
rs371783984
|
0.00002
|
NM_014714.4(IFT140):c.70C>T (p.His24Tyr)
|
rs939722027
|
0.00002
|
NM_014714.4(IFT140):c.731C>A (p.Ala244Glu)
|
rs758547276
|
0.00002
|
NM_014714.4(IFT140):c.773C>T (p.Thr258Met)
|
rs140020318
|
0.00002
|
NM_014714.4(IFT140):c.819G>A (p.Leu273=)
|
rs763445046
|
0.00002
|
NM_014714.4(IFT140):c.822C>T (p.Ser274=)
|
rs200604057
|
0.00002
|
NM_014714.4(IFT140):c.882C>T (p.Ala294=)
|
rs768675467
|
0.00002
|
NM_014714.4(IFT140):c.902+3G>A
|
rs776981733
|
0.00002
|
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr)
|
rs773372123
|
0.00002
|
NM_014714.4(IFT140):c.-6T>A
|
rs886051771
|
0.00001
|
NM_014714.4(IFT140):c.1009+11C>T
|
rs761927308
|
0.00001
|
NM_014714.4(IFT140):c.1009+19G>A
|
rs1193125251
|
0.00001
|
NM_014714.4(IFT140):c.1029C>T (p.Thr343=)
|
rs556379159
|
0.00001
|
NM_014714.4(IFT140):c.1072C>T (p.Leu358=)
|
rs2034869421
|
0.00001
|
NM_014714.4(IFT140):c.1077C>T (p.Gly359=)
|
rs757481448
|
0.00001
|
NM_014714.4(IFT140):c.1090G>A (p.Glu364Lys)
|
rs1279456870
|
0.00001
|
NM_014714.4(IFT140):c.1096A>G (p.Lys366Glu)
|
rs776044753
|
0.00001
|
NM_014714.4(IFT140):c.1124C>T (p.Thr375Ile)
|
rs777159234
|
0.00001
|
NM_014714.4(IFT140):c.1125C>T (p.Thr375=)
|
rs771792178
|
0.00001
|
NM_014714.4(IFT140):c.1133A>G (p.Gln378Arg)
|
rs1470456078
|
0.00001
|
NM_014714.4(IFT140):c.1155+8C>T
|
rs757107689
|
0.00001
|
NM_014714.4(IFT140):c.1156-18T>C
|
rs1433160902
|
0.00001
|
NM_014714.4(IFT140):c.1156-6A>G
|
rs769650753
|
0.00001
|
NM_014714.4(IFT140):c.1156-8A>C
|
rs1468612818
|
0.00001
|
NM_014714.4(IFT140):c.1216G>A (p.Glu406Lys)
|
rs755177677
|
0.00001
|
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp)
|
rs754373519
|
0.00001
|
NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro)
|
rs770890983
|
0.00001
|
NM_014714.4(IFT140):c.1260G>A (p.Met420Ile)
|
rs2034748123
|
0.00001
|
NM_014714.4(IFT140):c.1294C>T (p.Leu432=)
|
rs1482041898
|
0.00001
|
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met)
|
rs762293142
|
0.00001
|
NM_014714.4(IFT140):c.1302G>A (p.Thr434=)
|
rs1045923210
|
0.00001
|
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro)
|
rs1555491448
|
0.00001
|
NM_014714.4(IFT140):c.1321C>T (p.Arg441Cys)
|
rs758986711
|
0.00001
|
NM_014714.4(IFT140):c.1322G>A (p.Arg441His)
|
rs776567773
|
0.00001
|
NM_014714.4(IFT140):c.1326C>T (p.Thr442=)
|
rs748014543
|
0.00001
|
NM_014714.4(IFT140):c.1338C>T (p.Ile446=)
|
rs781745982
|
0.00001
|
NM_014714.4(IFT140):c.1339A>G (p.Ser447Gly)
|
rs1030260747
|
0.00001
|
NM_014714.4(IFT140):c.1359+17C>T
|
rs767520111
|
0.00001
|
NM_014714.4(IFT140):c.1361A>G (p.Asp454Gly)
|
rs376263938
|
0.00001
|
NM_014714.4(IFT140):c.1365T>C (p.Ala455=)
|
rs771279803
|
0.00001
|
NM_014714.4(IFT140):c.1402G>A (p.Glu468Lys)
|
rs756882000
|
0.00001
|
NM_014714.4(IFT140):c.1418C>T (p.Ala473Val)
|
rs765322119
|
0.00001
|
NM_014714.4(IFT140):c.1423C>T (p.Arg475Trp)
|
rs771838598
|
0.00001
|
NM_014714.4(IFT140):c.1424G>A (p.Arg475Gln)
|
rs776789813
|
0.00001
|
NM_014714.4(IFT140):c.1425G>C (p.Arg475=)
|
rs1312262491
|
0.00001
|
NM_014714.4(IFT140):c.1433-15C>T
|
rs749683523
|
0.00001
|
NM_014714.4(IFT140):c.1433G>A (p.Gly478Glu)
|
rs1322686700
|
0.00001
|
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu)
|
rs770727161
|
0.00001
|
NM_014714.4(IFT140):c.1451C>T (p.Thr484Met)
|
rs758052634
|
0.00001
|
NM_014714.4(IFT140):c.1452G>A (p.Thr484=)
|
rs914258252
|
0.00001
|
NM_014714.4(IFT140):c.1469A>G (p.His490Arg)
|
rs537123341
|
0.00001
|
NM_014714.4(IFT140):c.147+6T>C
|
rs1387119490
|
0.00001
|
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile)
|
rs767571875
|
0.00001
|
NM_014714.4(IFT140):c.1501C>T (p.Arg501Ter)
|
rs1424099914
|
0.00001
|
NM_014714.4(IFT140):c.1524+17C>G
|
rs764602004
|
0.00001
|
NM_014714.4(IFT140):c.155G>A (p.Cys52Tyr)
|
rs765500124
|
0.00001
|
NM_014714.4(IFT140):c.157G>A (p.Val53Met)
|
rs776811329
|
0.00001
|
NM_014714.4(IFT140):c.182C>T (p.Pro61Leu)
|
rs757082667
|
0.00001
|
NM_014714.4(IFT140):c.217C>T (p.Arg73Trp)
|
rs201990219
|
0.00001
|
NM_014714.4(IFT140):c.243G>T (p.Glu81Asp)
|
rs1199982756
|
0.00001
|
NM_014714.4(IFT140):c.257C>T (p.Thr86Met)
|
rs1159315989
|
0.00001
|
NM_014714.4(IFT140):c.280G>A (p.Glu94Lys)
|
rs768102481
|
0.00001
|
NM_014714.4(IFT140):c.298C>G (p.Leu100Val)
|
rs546498421
|
0.00001
|
NM_014714.4(IFT140):c.321C>T (p.Thr107=)
|
rs374346968
|
0.00001
|
NM_014714.4(IFT140):c.352C>T (p.Leu118=)
|
rs201381885
|
0.00001
|
NM_014714.4(IFT140):c.36G>A (p.Pro12=)
|
rs574028286
|
0.00001
|
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp)
|
rs773768491
|
0.00001
|
NM_014714.4(IFT140):c.409C>T (p.Arg137Ter)
|
rs762817061
|
0.00001
|
NM_014714.4(IFT140):c.422C>T (p.Thr141Met)
|
rs527332087
|
0.00001
|
NM_014714.4(IFT140):c.441G>A (p.Glu147=)
|
rs62040002
|
0.00001
|
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe)
|
rs1403669200
|
0.00001
|
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp)
|
rs755315693
|
0.00001
|
NM_014714.4(IFT140):c.488G>T (p.Gly163Val)
|
rs1368823319
|
0.00001
|
NM_014714.4(IFT140):c.489C>T (p.Gly163=)
|
rs776597097
|
0.00001
|
NM_014714.4(IFT140):c.529G>A (p.Asp177Asn)
|
rs774439512
|
0.00001
|
NM_014714.4(IFT140):c.609G>A (p.Leu203=)
|
rs1032107314
|
0.00001
|
NM_014714.4(IFT140):c.621C>T (p.Val207=)
|
rs1257821160
|
0.00001
|
NM_014714.4(IFT140):c.634+5G>A
|
rs1323647622
|
0.00001
|
NM_014714.4(IFT140):c.635-11T>G
|
rs778676917
|
0.00001
|
NM_014714.4(IFT140):c.635-20G>A
|
rs770147783
|
0.00001
|
NM_014714.4(IFT140):c.642G>A (p.Val214=)
|
rs765268078
|
0.00001
|
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr)
|
rs555382397
|
0.00001
|
NM_014714.4(IFT140):c.740T>C (p.Val247Ala)
|
rs1231656459
|
0.00001
|
NM_014714.4(IFT140):c.752A>G (p.Asn251Ser)
|
rs1277927981
|
0.00001
|
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe)
|
rs1442341163
|
0.00001
|
NM_014714.4(IFT140):c.849C>T (p.Ile283=)
|
rs563162000
|
0.00001
|
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr)
|
rs778404277
|
0.00001
|
NM_014714.4(IFT140):c.877A>T (p.Met293Leu)
|
rs761441382
|
0.00001
|
NM_014714.4(IFT140):c.883G>A (p.Val295Ile)
|
rs762792738
|
0.00001
|
NM_014714.4(IFT140):c.885C>T (p.Val295=)
|
rs775444392
|
0.00001
|
NM_014714.4(IFT140):c.900C>T (p.Leu300=)
|
rs1282920198
|
0.00001
|
NM_014714.4(IFT140):c.903-13T>G
|
rs748649022
|
0.00001
|
NM_014714.4(IFT140):c.910G>C (p.Asp304His)
|
rs755311835
|
0.00001
|
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp)
|
rs1330112951
|
0.00001
|
NM_014714.4(IFT140):c.985T>C (p.Cys329Arg)
|
rs1441549097
|
0.00001
|
NC_000016.10:g.1602592del
|
rs2035852852
|
|
NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del
|
|
|
NM_014714.4(IFT140):c.-24C>G
|
rs373009406
|
|
NM_014714.4(IFT140):c.1006A>C (p.Lys336Gln)
|
rs752956717
|
|
NM_014714.4(IFT140):c.1009+10C>T
|
|
|
NM_014714.4(IFT140):c.1009+16C>A
|
|
|
NM_014714.4(IFT140):c.1009+17T>C
|
|
|
NM_014714.4(IFT140):c.1009+17T>G
|
|
|
NM_014714.4(IFT140):c.1009+1G>T
|
|
|
NM_014714.4(IFT140):c.1010-10C>A
|
|
|
NM_014714.4(IFT140):c.1010-15T>G
|
|
|
NM_014714.4(IFT140):c.102C>T (p.Tyr34=)
|
|
|
NM_014714.4(IFT140):c.1035A>G (p.Arg345=)
|
|
|
NM_014714.4(IFT140):c.1037G>T (p.Gly346Val)
|
|
|
NM_014714.4(IFT140):c.1038G>C (p.Gly346=)
|
|
|
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter)
|
rs1166261279
|
|
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr)
|
rs1188370536
|
|
NM_014714.4(IFT140):c.1052G>T (p.Trp351Leu)
|
rs2141840176
|
|
NM_014714.4(IFT140):c.1055G>A (p.Arg352Lys)
|
|
|
NM_014714.4(IFT140):c.1056G>T (p.Arg352Ser)
|
rs750247837
|
|
NM_014714.4(IFT140):c.106A>T (p.Ser36Cys)
|
|
|
NM_014714.4(IFT140):c.1073_1083del (p.Leu358fs)
|
|
|
NM_014714.4(IFT140):c.1081C>T (p.Pro361Ser)
|
|
|
NM_014714.4(IFT140):c.1089A>G (p.Ala363=)
|
|
|
NM_014714.4(IFT140):c.1103G>C (p.Arg368Thr)
|
rs765706103
|
|
NM_014714.4(IFT140):c.1104G>A (p.Arg368=)
|
rs2141839599
|
|
NM_014714.4(IFT140):c.110C>G (p.Thr37Arg)
|
rs1487413546
|
|
NM_014714.4(IFT140):c.1114del (p.Gln372fs)
|
|
|
NM_014714.4(IFT140):c.1118C>T (p.Thr373Ile)
|
|
|
NM_014714.4(IFT140):c.1119C>T (p.Thr373=)
|
|
|
NM_014714.4(IFT140):c.1121C>T (p.Pro374Leu)
|
rs2034866707
|
|
NM_014714.4(IFT140):c.1125C>G (p.Thr375=)
|
|
|
NM_014714.4(IFT140):c.1134A>G (p.Gln378=)
|
|
|
NM_014714.4(IFT140):c.1135G>C (p.Gly379Arg)
|
rs2034865826
|
|
NM_014714.4(IFT140):c.113C>A (p.Thr38Asn)
|
rs747462746
|
|
NM_014714.4(IFT140):c.1141A>G (p.Ile381Val)
|
|
|
NM_014714.4(IFT140):c.1144A>G (p.Thr382Ala)
|
rs748786377
|
|
NM_014714.4(IFT140):c.1155+18G>A
|
rs2034862936
|
|
NM_014714.4(IFT140):c.1155+1G>A
|
|
|
NM_014714.4(IFT140):c.1156-11T>C
|
|
|
NM_014714.4(IFT140):c.1156-19T>C
|
|
|
NM_014714.4(IFT140):c.1167G>A (p.Arg389=)
|
|
|
NM_014714.4(IFT140):c.1167del (p.Lys390fs)
|
rs1085307074
|
|
NM_014714.4(IFT140):c.1177C>T (p.Leu393=)
|
|
|
NM_014714.4(IFT140):c.1187A>T (p.Asn396Ile)
|
|
|
NM_014714.4(IFT140):c.118A>G (p.Thr40Ala)
|
rs1331143723
|
|
NM_014714.4(IFT140):c.1191C>T (p.Ser397=)
|
|
|
NM_014714.4(IFT140):c.1201G>A (p.Val401Met)
|
|
|
NM_014714.4(IFT140):c.1203G>A (p.Val401=)
|
|
|
NM_014714.4(IFT140):c.1207A>G (p.Ile403Val)
|
|
|
NM_014714.4(IFT140):c.1215C>T (p.Ser405=)
|
rs778865722
|
|
NM_014714.4(IFT140):c.1221G>A (p.Arg407=)
|
|
|
NM_014714.4(IFT140):c.1221G>C (p.Arg407=)
|
|
|
NM_014714.4(IFT140):c.1229C>T (p.Ser410Leu)
|
|
|
NM_014714.4(IFT140):c.1243C>A (p.Gln415Lys)
|
|
|
NM_014714.4(IFT140):c.1245G>T (p.Gln415His)
|
|
|
NM_014714.4(IFT140):c.1246C>T (p.Gln416Ter)
|
|
|
NM_014714.4(IFT140):c.1250_1271dup (p.Ser425fs)
|
rs2034747055
|
|
NM_014714.4(IFT140):c.1251G>A (p.Val417=)
|
rs1011320736
|
|
NM_014714.4(IFT140):c.1268C>A (p.Ser423Tyr)
|
|
|
NM_014714.4(IFT140):c.1293C>A (p.Phe431Leu)
|
|
|
NM_014714.4(IFT140):c.1296G>A (p.Leu432=)
|
rs2141817626
|
|
NM_014714.4(IFT140):c.1297T>G (p.Ser433Ala)
|
|
|
NM_014714.4(IFT140):c.1299C>T (p.Ser433=)
|
|
|
NM_014714.4(IFT140):c.1318C>T (p.Leu440=)
|
|
|
NM_014714.4(IFT140):c.1334A>G (p.His445Arg)
|
rs2141817075
|
|
NM_014714.4(IFT140):c.1346del (p.Val449fs)
|
|
|
NM_014714.4(IFT140):c.1359+13G>A
|
|
|
NM_014714.4(IFT140):c.1359+1G>A
|
rs2034739931
|
|
NM_014714.4(IFT140):c.1359G>A (p.Lys453=)
|
rs2034740047
|
|
NM_014714.4(IFT140):c.1359_1359+3delinsAC
|
rs2141816540
|
|
NM_014714.4(IFT140):c.1360-13T>C
|
|
|
NM_014714.4(IFT140):c.1362T>C (p.Asp454=)
|
|
|
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr)
|
rs747510464
|
|
NM_014714.4(IFT140):c.1371A>G (p.Ala457=)
|
|
|
NM_014714.4(IFT140):c.1380C>T (p.Asn460=)
|
rs1339640657
|
|
NM_014714.4(IFT140):c.1380del (p.Asn460fs)
|
rs431905522
|
|
NM_014714.4(IFT140):c.1383A>C (p.Gly461=)
|
|
|
NM_014714.4(IFT140):c.1390G>T (p.Val464Leu)
|
rs2034681207
|
|
NM_014714.4(IFT140):c.1394C>T (p.Ala465Val)
|
|
|
NM_014714.4(IFT140):c.1404G>A (p.Glu468=)
|
|
|
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val)
|
rs190034269
|
|
NM_014714.4(IFT140):c.1406T>A (p.Leu469His)
|
rs924912054
|
|
NM_014714.4(IFT140):c.1422_1423insAA (p.Arg475fs)
|
rs2141800223
|
|
NM_014714.4(IFT140):c.1427G>C (p.Ser476Thr)
|
|
|
NM_014714.4(IFT140):c.1428T>C (p.Ser476=)
|
rs771030841
|
|
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser)
|
rs2034677396
|
|
NM_014714.4(IFT140):c.142G>A (p.Glu48Lys)
|
|
|
NM_014714.4(IFT140):c.1432+17C>T
|
|
|
NM_014714.4(IFT140):c.1432+18G>T
|
|
|
NM_014714.4(IFT140):c.1432+20A>G
|
|
|
NM_014714.4(IFT140):c.1432+5G>A
|
|
|
NM_014714.4(IFT140):c.1432+8C>A
|
rs1470310323
|
|
NM_014714.4(IFT140):c.1433-11T>G
|
|
|
NM_014714.4(IFT140):c.1433-14G>A
|
|
|
NM_014714.4(IFT140):c.1433-8C>A
|
rs2034521408
|
|
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr)
|
rs1596402406
|
|
NM_014714.4(IFT140):c.1465A>G (p.Met489Val)
|
rs778765501
|
|
NM_014714.4(IFT140):c.146_147+2del
|
rs2142099151
|
|
NM_014714.4(IFT140):c.147+13A>G
|
|
|
NM_014714.4(IFT140):c.147+185G>A
|
rs114832254
|
|
NM_014714.4(IFT140):c.147+2T>G
|
|
|
NM_014714.4(IFT140):c.148-14C>G
|
|
|
NM_014714.4(IFT140):c.148-16_148-15delinsGC
|
rs2142043610
|
|
NM_014714.4(IFT140):c.148-17C>T
|
|
|
NM_014714.4(IFT140):c.148-2A>G
|
rs775682083
|
|
NM_014714.4(IFT140):c.148-8C>A
|
rs2142043483
|
|
NM_014714.4(IFT140):c.1483T>G (p.Tyr495Asp)
|
rs2141751528
|
|
NM_014714.4(IFT140):c.1486A>G (p.Thr496Ala)
|
|
|
NM_014714.4(IFT140):c.1490T>C (p.Val497Ala)
|
rs2141751314
|
|
NM_014714.4(IFT140):c.1491G>A (p.Val497=)
|
|
|
NM_014714.4(IFT140):c.1498A>G (p.Asn500Asp)
|
|
|
NM_014714.4(IFT140):c.14A>T (p.Tyr5Phe)
|
|
|
NM_014714.4(IFT140):c.1500_1503del (p.Asn500fs)
|
|
|
NM_014714.4(IFT140):c.1501C>A (p.Arg501=)
|
|
|
NM_014714.4(IFT140):c.1502G>A (p.Arg501Gln)
|
|
|
NM_014714.4(IFT140):c.150G>T (p.Gly50=)
|
rs1257577001
|
|
NM_014714.4(IFT140):c.1514G>A (p.Arg505Gln)
|
|
|
NM_014714.4(IFT140):c.1519T>C (p.Trp507Arg)
|
|
|
NM_014714.4(IFT140):c.1520G>C (p.Trp507Ser)
|
|
|
NM_014714.4(IFT140):c.1524+16A>G
|
|
|
NM_014714.4(IFT140):c.1524+19G>A
|
|
|
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg)
|
rs886051770
|
|
NM_014714.4(IFT140):c.157_160del (p.Val53fs)
|
|
|
NM_014714.4(IFT140):c.169del (p.His57fs)
|
|
|
NM_014714.4(IFT140):c.171C>T (p.His57=)
|
rs141882340
|
|
NM_014714.4(IFT140):c.172G>A (p.Val58Ile)
|
|
|
NM_014714.4(IFT140):c.173T>G (p.Val58Gly)
|
|
|
NM_014714.4(IFT140):c.175G>A (p.Glu59Lys)
|
|
|
NM_014714.4(IFT140):c.177G>C (p.Glu59Asp)
|
rs1431384802
|
|
NM_014714.4(IFT140):c.178A>C (p.Arg60=)
|
rs2142042835
|
|
NM_014714.4(IFT140):c.181C>T (p.Pro61Ser)
|
rs886051769
|
|
NM_014714.4(IFT140):c.187C>T (p.Arg63Trp)
|
|
|
NM_014714.4(IFT140):c.188G>A (p.Arg63Gln)
|
|
|
NM_014714.4(IFT140):c.188G>C (p.Arg63Pro)
|
rs765411860
|
|
NM_014714.4(IFT140):c.190G>C (p.Val64Leu)
|
|
|
NM_014714.4(IFT140):c.208C>T (p.His70Tyr)
|
rs2142042420
|
|
NM_014714.4(IFT140):c.212C>G (p.Pro71Arg)
|
|
|
NM_014714.4(IFT140):c.213G>A (p.Pro71=)
|
|
|
NM_014714.4(IFT140):c.217_218del (p.Arg73fs)
|
rs2035847573
|
|
NM_014714.4(IFT140):c.218G>A (p.Arg73Gln)
|
rs149202904
|
|
NM_014714.4(IFT140):c.236G>T (p.Gly79Val)
|
|
|
NM_014714.4(IFT140):c.238T>A (p.Trp80Arg)
|
rs2035846628
|
|
NM_014714.4(IFT140):c.240G>A (p.Trp80Ter)
|
rs1471379682
|
|
NM_014714.4(IFT140):c.240G>T (p.Trp80Cys)
|
rs1471379682
|
|
NM_014714.4(IFT140):c.244A>G (p.Thr82Ala)
|
rs2035846064
|
|
NM_014714.4(IFT140):c.245C>A (p.Thr82Asn)
|
|
|
NM_014714.4(IFT140):c.248G>A (p.Gly83Glu)
|
rs2142041731
|
|
NM_014714.4(IFT140):c.251A>G (p.Glu84Gly)
|
rs755089438
|
|
NM_014714.4(IFT140):c.251A>T (p.Glu84Val)
|
|
|
NM_014714.4(IFT140):c.255G>A (p.Val85=)
|
|
|
NM_014714.4(IFT140):c.258G>A (p.Thr86=)
|
rs766569165
|
|
NM_014714.4(IFT140):c.25A>C (p.Ile9Leu)
|
|
|
NM_014714.4(IFT140):c.261G>A (p.Val87=)
|
|
|
NM_014714.4(IFT140):c.283C>T (p.Gln95Ter)
|
rs2142041186
|
|
NM_014714.4(IFT140):c.295C>T (p.Pro99Ser)
|
|
|
NM_014714.4(IFT140):c.2T>C (p.Met1Thr)
|
|
|
NM_014714.4(IFT140):c.302C>T (p.Thr101Ile)
|
|
|
NM_014714.4(IFT140):c.304C>T (p.His102Tyr)
|
rs1596461586
|
|
NM_014714.4(IFT140):c.308_309del (p.Thr103fs)
|
|
|
NM_014714.4(IFT140):c.313G>A (p.Asp105Asn)
|
|
|
NM_014714.4(IFT140):c.315C>G (p.Asp105Glu)
|
rs772739900
|
|
NM_014714.4(IFT140):c.316A>G (p.Ile106Val)
|
rs1465706247
|
|
NM_014714.4(IFT140):c.325C>T (p.Leu109Phe)
|
|
|
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser)
|
rs140159548
|
|
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys)
|
rs140159548
|
|
NM_014714.4(IFT140):c.334A>C (p.Ser112Arg)
|
rs780294580
|
|
NM_014714.4(IFT140):c.341G>T (p.Ser114Ile)
|
|
|
NM_014714.4(IFT140):c.345A>G (p.Gly115=)
|
|
|
NM_014714.4(IFT140):c.347A>G (p.Asn116Ser)
|
|
|
NM_014714.4(IFT140):c.359C>G (p.Ser120Cys)
|
rs1457067377
|
|
NM_014714.4(IFT140):c.359C>T (p.Ser120Phe)
|
rs1457067377
|
|
NM_014714.4(IFT140):c.369+11_369+12del
|
|
|
NM_014714.4(IFT140):c.369+15G>A
|
|
|
NM_014714.4(IFT140):c.369+16C>A
|
|
|
NM_014714.4(IFT140):c.369+20A>G
|
|
|
NM_014714.4(IFT140):c.369+4A>G
|
rs752104483
|
|
NM_014714.4(IFT140):c.370-10G>A
|
|
|
NM_014714.4(IFT140):c.370-12G>A
|
rs2141917000
|
|
NM_014714.4(IFT140):c.370-20G>A
|
rs200779129
|
|
NM_014714.4(IFT140):c.370-20G>C
|
rs200779129
|
|
NM_014714.4(IFT140):c.370-3_370-1delinsAA
|
rs2035236903
|
|
NM_014714.4(IFT140):c.378del (p.Leu127fs)
|
|
|
NM_014714.4(IFT140):c.382C>G (p.Leu128Val)
|
|
|
NM_014714.4(IFT140):c.387G>A (p.Leu129=)
|
rs369420968
|
|
NM_014714.4(IFT140):c.398A>C (p.Asp133Ala)
|
rs2141916604
|
|
NM_014714.4(IFT140):c.405G>A (p.Arg135=)
|
|
|
NM_014714.4(IFT140):c.406G>T (p.Gly136Cys)
|
rs2035235540
|
|
NM_014714.4(IFT140):c.413T>G (p.Val138Gly)
|
|
|
NM_014714.4(IFT140):c.41C>T (p.Ala14Val)
|
rs2036120849
|
|
NM_014714.4(IFT140):c.420G>A (p.Gly140=)
|
|
|
NM_014714.4(IFT140):c.435A>G (p.Lys145=)
|
|
|
NM_014714.4(IFT140):c.438_440del (p.His146_Glu147delinsGln)
|
|
|
NM_014714.4(IFT140):c.44C>G (p.Ala15Gly)
|
|
|
NM_014714.4(IFT140):c.454C>G (p.Leu152Val)
|
|
|
NM_014714.4(IFT140):c.456C>T (p.Leu152=)
|
|
|
NM_014714.4(IFT140):c.459G>A (p.Thr153=)
|
rs61739554
|
|
NM_014714.4(IFT140):c.459G>T (p.Thr153=)
|
rs61739554
|
|
NM_014714.4(IFT140):c.46_57del (p.Gly16_Ser19del)
|
|
|
NM_014714.4(IFT140):c.473G>A (p.Arg158Gln)
|
|
|
NM_014714.4(IFT140):c.474G>C (p.Arg158=)
|
rs145287241
|
|
NM_014714.4(IFT140):c.474G>T (p.Arg158=)
|
rs145287241
|
|
NM_014714.4(IFT140):c.476T>C (p.Leu159Pro)
|
|
|
NM_014714.4(IFT140):c.478C>A (p.Pro160Thr)
|
|
|
NM_014714.4(IFT140):c.480C>A (p.Pro160=)
|
|
|
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr)
|
rs148462329
|
|
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala)
|
rs148462329
|
|
NM_014714.4(IFT140):c.481C>T (p.Pro161Ser)
|
rs148462329
|
|
NM_014714.4(IFT140):c.482C>A (p.Pro161His)
|
rs191927317
|
|
NM_014714.4(IFT140):c.482C>G (p.Pro161Arg)
|
|
|
NM_014714.4(IFT140):c.482C>T (p.Pro161Leu)
|
rs191927317
|
|
NM_014714.4(IFT140):c.482dup (p.Pro162fs)
|
rs763737398
|
|
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter)
|
rs559314300
|
|
NM_014714.4(IFT140):c.491+10G>A
|
|
|
NM_014714.4(IFT140):c.491+11G>T
|
|
|
NM_014714.4(IFT140):c.491+16G>A
|
|
|
NM_014714.4(IFT140):c.492-15C>G
|
|
|
NM_014714.4(IFT140):c.492-19G>A
|
|
|
NM_014714.4(IFT140):c.497T>C (p.Leu166Pro)
|
rs886042485
|
|
NM_014714.4(IFT140):c.505T>C (p.Leu169=)
|
|
|
NM_014714.4(IFT140):c.525C>G (p.Ser175Arg)
|
rs772378665
|
|
NM_014714.4(IFT140):c.525C>T (p.Ser175=)
|
rs772378665
|
|
NM_014714.4(IFT140):c.54C>G (p.Pro18=)
|
|
|
NM_014714.4(IFT140):c.54del (p.Ser19fs)
|
rs2142100542
|
|
NM_014714.4(IFT140):c.554A>G (p.Asn185Ser)
|
rs975918006
|
|
NM_014714.4(IFT140):c.557G>A (p.Trp186Ter)
|
rs1567413573
|
|
NM_014714.4(IFT140):c.558G>A (p.Trp186Ter)
|
rs2035218747
|
|
NM_014714.4(IFT140):c.560A>G (p.Lys187Arg)
|
rs756417017
|
|
NM_014714.4(IFT140):c.565del (p.Ser189fs)
|
|
|
NM_014714.4(IFT140):c.567C>A (p.Ser189Arg)
|
rs2035217954
|
|
NM_014714.4(IFT140):c.570T>G (p.Ser190Arg)
|
rs767008075
|
|
NM_014714.4(IFT140):c.571T>G (p.Ser191Ala)
|
rs2141912232
|
|
NM_014714.4(IFT140):c.583C>A (p.Leu195Met)
|
|
|
NM_014714.4(IFT140):c.584T>C (p.Leu195Pro)
|
rs764851284
|
|
NM_014714.4(IFT140):c.587A>G (p.Lys196Arg)
|
rs2141912122
|
|
NM_014714.4(IFT140):c.609GTT[1] (p.Leu204del)
|
|
|
NM_014714.4(IFT140):c.624T>A (p.Ser208Arg)
|
rs2035215270
|
|
NM_014714.4(IFT140):c.625C>A (p.Leu209Met)
|
|
|
NM_014714.4(IFT140):c.625C>G (p.Leu209Val)
|
|
|
NM_014714.4(IFT140):c.629T>C (p.Met210Thr)
|
|
|
NM_014714.4(IFT140):c.634+13G>C
|
|
|
NM_014714.4(IFT140):c.634+9C>G
|
|
|
NM_014714.4(IFT140):c.635-12G>A
|
rs12447357
|
|
NM_014714.4(IFT140):c.635-1G>C
|
rs2141882563
|
|
NM_014714.4(IFT140):c.635-79T>A
|
rs112431294
|
|
NM_014714.4(IFT140):c.637A>C (p.Thr213Pro)
|
rs2141882480
|
|
NM_014714.4(IFT140):c.637A>G (p.Thr213Ala)
|
rs2141882480
|
|
NM_014714.4(IFT140):c.638C>T (p.Thr213Ile)
|
rs146302646
|
|
NM_014714.4(IFT140):c.644A>G (p.His215Arg)
|
|
|
NM_014714.4(IFT140):c.645C>G (p.His215Gln)
|
rs2035078296
|
|
NM_014714.4(IFT140):c.659A>G (p.Lys220Arg)
|
|
|
NM_014714.4(IFT140):c.661G>A (p.Gly221Ser)
|
|
|
NM_014714.4(IFT140):c.676G>T (p.Val226Leu)
|
|
|
NM_014714.4(IFT140):c.678G>C (p.Val226=)
|
rs1270248004
|
|
NM_014714.4(IFT140):c.681G>A (p.Val227=)
|
|
|
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys)
|
rs752659125
|
|
NM_014714.4(IFT140):c.700C>A (p.Gln234Lys)
|
|
|
NM_014714.4(IFT140):c.710T>A (p.Phe237Tyr)
|
|
|
NM_014714.4(IFT140):c.710T>C (p.Phe237Ser)
|
|
|
NM_014714.4(IFT140):c.715A>T (p.Met239Leu)
|
|
|
NM_014714.4(IFT140):c.718_720del (p.Glu240del)
|
|
|
NM_014714.4(IFT140):c.724A>C (p.Arg242=)
|
|
|
NM_014714.4(IFT140):c.72C>A (p.His24Gln)
|
rs2036118371
|
|
NM_014714.4(IFT140):c.732A>C (p.Ala244=)
|
|
|
NM_014714.4(IFT140):c.73C>G (p.Pro25Ala)
|
rs1408766601
|
|
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe)
|
rs886051768
|
|
NM_014714.4(IFT140):c.757C>T (p.Arg253Trp)
|
|
|
NM_014714.4(IFT140):c.76G>C (p.Val26Leu)
|
|
|
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser)
|
rs141254616
|
|
NM_014714.4(IFT140):c.774G>A (p.Thr258=)
|
rs746955795
|
|
NM_014714.4(IFT140):c.775G>A (p.Val259Met)
|
rs1392612759
|
|
NM_014714.4(IFT140):c.78C>G (p.Val26=)
|
|
|
NM_014714.4(IFT140):c.792A>G (p.Lys264=)
|
|
|
NM_014714.4(IFT140):c.797AAG[1] (p.Glu267del)
|
rs2035068981
|
|
NM_014714.4(IFT140):c.810+14G>A
|
|
|
NM_014714.4(IFT140):c.810+6T>C
|
rs2035068589
|
|
NM_014714.4(IFT140):c.810+7G>A
|
|
|
NM_014714.4(IFT140):c.810+9G>T
|
rs886051767
|
|
NM_014714.4(IFT140):c.810G>A (p.Lys270=)
|
|
|
NM_014714.4(IFT140):c.811-11dup
|
rs2034984327
|
|
NM_014714.4(IFT140):c.811-18G>A
|
rs371769718
|
|
NM_014714.4(IFT140):c.811-2A>G
|
|
|
NM_014714.4(IFT140):c.816G>A (p.Lys272=)
|
|
|
NM_014714.4(IFT140):c.831C>T (p.Thr277=)
|
|
|
NM_014714.4(IFT140):c.836G>A (p.Arg279His)
|
rs4786350
|
|
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro)
|
rs4786350
|
|
NM_014714.4(IFT140):c.844G>C (p.Asp282His)
|
|
|
NM_014714.4(IFT140):c.849C>G (p.Ile283Met)
|
rs563162000
|
|
NM_014714.4(IFT140):c.857_860del (p.Ile286fs)
|
rs431905506
|
|
NM_014714.4(IFT140):c.864C>A (p.Gly288=)
|
|
|
NM_014714.4(IFT140):c.864C>T (p.Gly288=)
|
|
|
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg)
|
rs145858131
|
|
NM_014714.4(IFT140):c.867C>T (p.Ser289=)
|
rs145858131
|
|
NM_014714.4(IFT140):c.873C>T (p.Leu291=)
|
|
|
NM_014714.4(IFT140):c.874G>A (p.Val292Met)
|
rs431905521
|
|
NM_014714.4(IFT140):c.881C>T (p.Ala294Val)
|
rs1452513681
|
|
NM_014714.4(IFT140):c.886G>T (p.Gly296Trp)
|
rs574450870
|
|
NM_014714.4(IFT140):c.889G>T (p.Glu297Ter)
|
|
|
NM_014714.4(IFT140):c.895G>T (p.Ala299Ser)
|
|
|
NM_014714.4(IFT140):c.89T>C (p.Leu30Ser)
|
rs2142099911
|
|
NM_014714.4(IFT140):c.901A>G (p.Arg301Gly)
|
|
|
NM_014714.4(IFT140):c.903-1G>A
|
rs1567407044
|
|
NM_014714.4(IFT140):c.903-5T>A
|
|
|
NM_014714.4(IFT140):c.903-8T>C
|
|
|
NM_014714.4(IFT140):c.903-9C>T
|
rs373647468
|
|
NM_014714.4(IFT140):c.910del (p.Asp304fs)
|
|
|
NM_014714.4(IFT140):c.912C>T (p.Asp304=)
|
|
|
NM_014714.4(IFT140):c.913A>G (p.Ile305Val)
|
|
|
NM_014714.4(IFT140):c.914T>C (p.Ile305Thr)
|
|
|
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter)
|
rs1307461796
|
|
NM_014714.4(IFT140):c.922G>A (p.Gly308Arg)
|
|
|
NM_014714.4(IFT140):c.927G>C (p.Glu309Asp)
|
rs2141852274
|
|
NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys)
|
rs387907193
|
|
NM_014714.4(IFT140):c.937C>G (p.Leu313Val)
|
rs758052767
|
|
NM_014714.4(IFT140):c.939G>C (p.Leu313=)
|
|
|
NM_014714.4(IFT140):c.941G>A (p.Ser314Asn)
|
|
|
NM_014714.4(IFT140):c.945A>G (p.Pro315=)
|
|
|
NM_014714.4(IFT140):c.94G>A (p.Val32Ile)
|
rs770234866
|
|
NM_014714.4(IFT140):c.94G>C (p.Val32Leu)
|
|
|
NM_014714.4(IFT140):c.94G>T (p.Val32Phe)
|
|
|
NM_014714.4(IFT140):c.951G>A (p.Glu317=)
|
rs2141851936
|
|
NM_014714.4(IFT140):c.973G>A (p.Glu325Lys)
|
|
|
NM_014714.4(IFT140):c.974A>G (p.Glu325Gly)
|
|
|
NM_014714.4(IFT140):c.975G>A (p.Glu325=)
|
rs1330112951
|
|
NM_014714.4(IFT140):c.97G>A (p.Ala33Thr)
|
|
|
NM_014714.4(IFT140):c.986G>A (p.Cys329Tyr)
|
|
|
NM_014714.4(IFT140):c.989T>C (p.Val330Ala)
|
rs2034932329
|
|
NM_014714.4(IFT140):c.997T>C (p.Cys333Arg)
|
rs2141851372
|
|
NM_014714.4(IFT140):c.997T>G (p.Cys333Gly)
|
|
|
NM_014714.4(IFT140):c.9C>G (p.Leu3=)
|
|
|