NM_001375405.1(CEP120):c.2826T>C (p.Asp942=)
|
rs1047438
|
0.71935
|
NM_001375405.1(CEP120):c.816C>T (p.His272=)
|
rs6876883
|
0.44294
|
NM_001375405.1(CEP120):c.1804C>G (p.Leu602Val)
|
rs6595440
|
0.39494
|
NM_001375405.1(CEP120):c.1431-9A>T
|
rs3893854
|
0.34483
|
NM_001375405.1(CEP120):c.2637G>C (p.Gln879His)
|
rs1047437
|
0.15997
|
NM_001375405.1(CEP120):c.2481+3100G>A
|
rs1428387
|
0.04593
|
NM_001375405.1(CEP120):c.1431-7A>T
|
rs63388160
|
0.04585
|
NM_001375405.1(CEP120):c.1431-12_1431-9del
|
rs769322546
|
0.04498
|
NM_001375405.1(CEP120):c.1431-13_1431-9del
|
rs772770081
|
0.03054
|
NM_001375405.1(CEP120):c.1431-8A>T
|
rs761915664
|
0.02985
|
NM_001375405.1(CEP120):c.1105C>T (p.Pro369Ser)
|
rs61747983
|
0.01738
|
NM_001375405.1(CEP120):c.1431-10_1431-9del
|
rs1491225681
|
0.00803
|
NM_001375405.1(CEP120):c.2182A>G (p.Ser728Gly)
|
rs61744334
|
0.00757
|
NM_001375405.1(CEP120):c.362A>G (p.Lys121Arg)
|
rs147273517
|
0.00512
|
NM_001375405.1(CEP120):c.1112A>G (p.Lys371Arg)
|
rs114281792
|
0.00421
|
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe)
|
rs114280473
|
0.00417
|
NM_001375405.1(CEP120):c.2726+14A>T
|
rs115044327
|
0.00396
|
NM_001375405.1(CEP120):c.2104-13_2104-12insTA
|
rs749949328
|
0.00302
|
NM_001375405.1(CEP120):c.1256-18A>G
|
rs371950460
|
0.00300
|
NM_001375405.1(CEP120):c.2145T>C (p.Thr715=)
|
rs113911260
|
0.00294
|
NM_001375405.1(CEP120):c.2358+20A>G
|
rs139462181
|
0.00170
|
NM_001375405.1(CEP120):c.810+7A>G
|
rs376913078
|
0.00140
|
NM_001375405.1(CEP120):c.1764-6T>C
|
rs376358503
|
0.00112
|
NM_001375405.1(CEP120):c.2358+14C>T
|
rs114558677
|
0.00112
|
NM_001375405.1(CEP120):c.1039-19A>G
|
rs188996721
|
0.00108
|
NM_001375405.1(CEP120):c.28A>G (p.Ile10Val)
|
rs199793672
|
0.00096
|
NM_001375405.1(CEP120):c.1671G>A (p.Leu557=)
|
rs75289011
|
0.00066
|
NM_001375405.1(CEP120):c.2647C>T (p.Arg883Cys)
|
rs140306974
|
0.00066
|
NM_001375405.1(CEP120):c.2580+6T>G
|
rs200418811
|
0.00062
|
NM_001375405.1(CEP120):c.1180C>T (p.Pro394Ser)
|
rs200450605
|
0.00059
|
NM_001375405.1(CEP120):c.1119G>C (p.Lys373Asn)
|
rs201571160
|
0.00047
|
NM_001375405.1(CEP120):c.1074G>A (p.Glu358=)
|
rs199843371
|
0.00035
|
NM_001375405.1(CEP120):c.1431-11_1431-9del
|
rs776090638
|
0.00033
|
NM_001375405.1(CEP120):c.1574T>C (p.Phe525Ser)
|
rs567550166
|
0.00032
|
NM_001375405.1(CEP120):c.1684A>G (p.Thr562Ala)
|
rs147277049
|
0.00028
|
NM_001375405.1(CEP120):c.27C>T (p.Leu9=)
|
rs111851376
|
0.00028
|
NM_001375405.1(CEP120):c.2187G>A (p.Val729=)
|
rs192078531
|
0.00025
|
NM_001375405.1(CEP120):c.2104-12dup
|
rs759878384
|
0.00023
|
NM_001375405.1(CEP120):c.2926A>G (p.Arg976Gly)
|
rs145436175
|
0.00023
|
NM_001375405.1(CEP120):c.2013+14T>C
|
rs546872053
|
0.00021
|
NM_001375405.1(CEP120):c.340T>C (p.Leu114=)
|
rs199922403
|
0.00019
|
NM_001375405.1(CEP120):c.196C>T (p.His66Tyr)
|
rs751682861
|
0.00017
|
NM_001375405.1(CEP120):c.1484T>C (p.Val495Ala)
|
rs150887058
|
0.00015
|
NM_001375405.1(CEP120):c.402C>T (p.Thr134=)
|
rs143893793
|
0.00015
|
NM_001375405.1(CEP120):c.358A>G (p.Thr120Ala)
|
rs202103949
|
0.00014
|
NM_001375405.1(CEP120):c.1760A>T (p.Gln587Leu)
|
rs147430819
|
0.00011
|
NM_001375405.1(CEP120):c.2235G>C (p.Gln745His)
|
rs201600892
|
0.00011
|
NM_001375405.1(CEP120):c.316A>C (p.Lys106Gln)
|
rs568081479
|
0.00011
|
NM_001375405.1(CEP120):c.827G>A (p.Gly276Glu)
|
rs201955087
|
0.00010
|
NM_001375405.1(CEP120):c.1038+20C>T
|
rs368172739
|
0.00009
|
NM_001375405.1(CEP120):c.1333A>T (p.Ile445Phe)
|
rs753763495
|
0.00009
|
NM_001375405.1(CEP120):c.1431-12T>A
|
rs1224838538
|
0.00008
|
NM_001375405.1(CEP120):c.612+5G>A
|
rs762000520
|
0.00008
|
NM_001375405.1(CEP120):c.280T>A (p.Tyr94Asn)
|
rs777235472
|
0.00007
|
NM_001375405.1(CEP120):c.1721G>A (p.Arg574His)
|
rs367748337
|
0.00006
|
NM_001375405.1(CEP120):c.2122C>G (p.Leu708Val)
|
rs144490830
|
0.00006
|
NM_001375405.1(CEP120):c.2925C>T (p.Ile975=)
|
rs147730520
|
0.00006
|
NM_001375405.1(CEP120):c.409A>G (p.Lys137Glu)
|
rs200983311
|
0.00006
|
NM_001375405.1(CEP120):c.499A>G (p.Ile167Val)
|
rs200059033
|
0.00006
|
NM_001375405.1(CEP120):c.610C>A (p.Gln204Lys)
|
rs548355953
|
0.00006
|
NM_001375405.1(CEP120):c.1846T>C (p.Ser616Pro)
|
rs765938298
|
0.00005
|
NM_001375405.1(CEP120):c.2103+7A>G
|
rs764744920
|
0.00005
|
NM_001375405.1(CEP120):c.322-8T>C
|
rs189324274
|
0.00005
|
NM_001375405.1(CEP120):c.634C>G (p.Leu212Val)
|
rs779407868
|
0.00005
|
NM_001375405.1(CEP120):c.2104-13T>A
|
rs779904226
|
0.00004
|
NM_001375405.1(CEP120):c.2119A>G (p.Ile707Val)
|
rs200462051
|
0.00004
|
NM_001375405.1(CEP120):c.2237G>A (p.Arg746Gln)
|
rs375645626
|
0.00004
|
NM_001375405.1(CEP120):c.2358+18T>C
|
rs201232590
|
0.00004
|
NM_001375405.1(CEP120):c.2359-8T>A
|
rs570367630
|
0.00004
|
NM_001375405.1(CEP120):c.2799T>C (p.His933=)
|
rs775237242
|
0.00004
|
NM_001375405.1(CEP120):c.2889C>T (p.His963=)
|
rs142459804
|
0.00004
|
NM_001375405.1(CEP120):c.963T>C (p.Leu321=)
|
rs201148622
|
0.00004
|
NM_001375405.1(CEP120):c.1039-2A>T
|
rs774440370
|
0.00003
|
NM_001375405.1(CEP120):c.1113G>A (p.Lys371=)
|
rs375230630
|
0.00003
|
NM_001375405.1(CEP120):c.1274C>G (p.Ala425Gly)
|
rs1196167686
|
0.00003
|
NM_001375405.1(CEP120):c.1493G>A (p.Arg498Gln)
|
rs764318008
|
0.00003
|
NM_001375405.1(CEP120):c.177A>G (p.Glu59=)
|
rs376374734
|
0.00003
|
NM_001375405.1(CEP120):c.2358+3T>G
|
rs373782883
|
0.00003
|
NM_001375405.1(CEP120):c.2686G>A (p.Glu896Lys)
|
rs780184609
|
0.00003
|
NM_001375405.1(CEP120):c.2690G>A (p.Arg897Gln)
|
rs531728977
|
0.00003
|
NM_001375405.1(CEP120):c.304G>A (p.Ala102Thr)
|
rs370142490
|
0.00003
|
NM_001375405.1(CEP120):c.595G>C (p.Ala199Pro)
|
rs367600930
|
0.00003
|
NM_001375405.1(CEP120):c.210A>G (p.Leu70=)
|
rs554875614
|
0.00002
|
NM_001375405.1(CEP120):c.2259C>A (p.Asp753Glu)
|
rs771949596
|
0.00002
|
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter)
|
rs759125480
|
0.00002
|
NM_001375405.1(CEP120):c.38C>A (p.Ser13Tyr)
|
rs772928146
|
0.00002
|
NM_001375405.1(CEP120):c.42C>T (p.Ile14=)
|
rs374059490
|
0.00002
|
NM_001375405.1(CEP120):c.65A>G (p.Lys22Arg)
|
rs763850647
|
0.00002
|
NM_001375405.1(CEP120):c.1002G>A (p.Val334=)
|
rs753263238
|
0.00001
|
NM_001375405.1(CEP120):c.1081C>T (p.His361Tyr)
|
rs1409356450
|
0.00001
|
NM_001375405.1(CEP120):c.108A>C (p.Gly36=)
|
rs1289971154
|
0.00001
|
NM_001375405.1(CEP120):c.121A>G (p.Thr41Ala)
|
rs1774507881
|
0.00001
|
NM_001375405.1(CEP120):c.1488A>G (p.Glu496=)
|
rs1772033397
|
0.00001
|
NM_001375405.1(CEP120):c.1580+14T>C
|
rs1772025870
|
0.00001
|
NM_001375405.1(CEP120):c.160A>G (p.Thr54Ala)
|
rs1452117593
|
0.00001
|
NM_001375405.1(CEP120):c.16G>T (p.Asp6Tyr)
|
rs531662259
|
0.00001
|
NM_001375405.1(CEP120):c.1763+7C>T
|
rs375098616
|
0.00001
|
NM_001375405.1(CEP120):c.1831C>T (p.Arg611Cys)
|
rs150132498
|
0.00001
|
NM_001375405.1(CEP120):c.1946T>C (p.Leu649Ser)
|
rs773146730
|
0.00001
|
NM_001375405.1(CEP120):c.1990C>A (p.Gln664Lys)
|
rs749655305
|
0.00001
|
NM_001375405.1(CEP120):c.1A>G (p.Met1Val)
|
rs1486546438
|
0.00001
|
NM_001375405.1(CEP120):c.2014-20T>A
|
rs1412278670
|
0.00001
|
NM_001375405.1(CEP120):c.2220G>T (p.Leu740=)
|
rs750757836
|
0.00001
|
NM_001375405.1(CEP120):c.2333A>G (p.Glu778Gly)
|
rs200477463
|
0.00001
|
NM_001375405.1(CEP120):c.2358+11G>A
|
rs778675981
|
0.00001
|
NM_001375405.1(CEP120):c.2358+8A>C
|
rs781621962
|
0.00001
|
NM_001375405.1(CEP120):c.2443C>T (p.Arg815Cys)
|
rs757166785
|
0.00001
|
NM_001375405.1(CEP120):c.253G>A (p.Val85Ile)
|
rs1255595388
|
0.00001
|
NM_001375405.1(CEP120):c.2606G>A (p.Arg869His)
|
rs771132137
|
0.00001
|
NM_001375405.1(CEP120):c.2736A>G (p.Gln912=)
|
rs758997502
|
0.00001
|
NM_001375405.1(CEP120):c.2785A>C (p.Lys929Gln)
|
rs1768847284
|
0.00001
|
NM_001375405.1(CEP120):c.451C>T (p.Arg151Ter)
|
rs757499322
|
0.00001
|
NM_001375405.1(CEP120):c.49+19G>A
|
rs1774813689
|
0.00001
|
NM_001375405.1(CEP120):c.50-12C>T
|
rs755652817
|
0.00001
|
NM_001375405.1(CEP120):c.508G>C (p.Val170Leu)
|
rs756502328
|
0.00001
|
NM_001375405.1(CEP120):c.604T>C (p.Leu202=)
|
rs1220874723
|
0.00001
|
NM_001375405.1(CEP120):c.623G>A (p.Cys208Tyr)
|
rs370960719
|
0.00001
|
NM_001375405.1(CEP120):c.765T>C (p.Ser255=)
|
rs1399621575
|
0.00001
|
NM_001375405.1(CEP120):c.802A>G (p.Lys268Glu)
|
rs1421931952
|
0.00001
|
NM_001375405.1(CEP120):c.916G>A (p.Glu306Lys)
|
rs777630050
|
0.00001
|
NM_001375405.1(CEP120):c.922G>C (p.Ala308Pro)
|
rs772046806
|
0.00001
|
NM_001375405.1(CEP120):c.980A>C (p.Glu327Ala)
|
rs1304562610
|
0.00001
|
NM_001375405.1(CEP120):c.991A>G (p.Thr331Ala)
|
rs372144017
|
0.00001
|
NC_000005.9:g.(?_122682213)_(122758692_?)del
|
|
|
NM_001375405.1(CEP120):c.1018A>C (p.Arg340=)
|
|
|
NM_001375405.1(CEP120):c.1028dup (p.Asp344fs)
|
rs2127071022
|
|
NM_001375405.1(CEP120):c.1034C>T (p.Ser345Phe)
|
rs1772365923
|
|
NM_001375405.1(CEP120):c.1038+13C>T
|
|
|
NM_001375405.1(CEP120):c.1038+18T>A
|
|
|
NM_001375405.1(CEP120):c.1038+6T>C
|
rs1064796555
|
|
NM_001375405.1(CEP120):c.1039-3del
|
|
|
NM_001375405.1(CEP120):c.1062G>C (p.Gln354His)
|
rs775393475
|
|
NM_001375405.1(CEP120):c.106G>A (p.Gly36Arg)
|
|
|
NM_001375405.1(CEP120):c.1101A>C (p.Leu367Phe)
|
|
|
NM_001375405.1(CEP120):c.1122A>C (p.Thr374=)
|
|
|
NM_001375405.1(CEP120):c.1122A>G (p.Thr374=)
|
rs372737011
|
|
NM_001375405.1(CEP120):c.1125T>C (p.Leu375=)
|
|
|
NM_001375405.1(CEP120):c.113A>T (p.Gln38Leu)
|
|
|
NM_001375405.1(CEP120):c.1151C>A (p.Ser384Tyr)
|
|
|
NM_001375405.1(CEP120):c.1161A>G (p.Pro387=)
|
|
|
NM_001375405.1(CEP120):c.1167C>T (p.His389=)
|
rs2127068247
|
|
NM_001375405.1(CEP120):c.1190A>C (p.Asp397Ala)
|
|
|
NM_001375405.1(CEP120):c.1255+1G>A
|
|
|
NM_001375405.1(CEP120):c.1304A>G (p.Asn435Ser)
|
|
|
NM_001375405.1(CEP120):c.1305T>C (p.Asn435=)
|
|
|
NM_001375405.1(CEP120):c.1318G>A (p.Ala440Thr)
|
|
|
NM_001375405.1(CEP120):c.1323A>T (p.Ser441=)
|
|
|
NM_001375405.1(CEP120):c.1344A>G (p.Pro448=)
|
|
|
NM_001375405.1(CEP120):c.1391A>T (p.His464Leu)
|
rs776098623
|
|
NM_001375405.1(CEP120):c.1397del (p.Leu466fs)
|
rs781434539
|
|
NM_001375405.1(CEP120):c.1413A>C (p.Pro471=)
|
|
|
NM_001375405.1(CEP120):c.1430+7T>C
|
|
|
NM_001375405.1(CEP120):c.1431-11T>A
|
|
|
NM_001375405.1(CEP120):c.1431-11_1431-10dup
|
|
|
NM_001375405.1(CEP120):c.1431-15_1431-9del
|
|
|
NM_001375405.1(CEP120):c.1431-21_1431-10del
|
|
|
NM_001375405.1(CEP120):c.1431-4C>T
|
|
|
NM_001375405.1(CEP120):c.1431-7del
|
rs34328840
|
|
NM_001375405.1(CEP120):c.1431-9_1431-6del
|
rs1403821471
|
|
NM_001375405.1(CEP120):c.1431-9_1431-7del
|
|
|
NM_001375405.1(CEP120):c.1431-9_1431-8insT
|
|
|
NM_001375405.1(CEP120):c.1431-9_1431-8insTTTTTTTTTTTT
|
rs1562047830
|
|
NM_001375405.1(CEP120):c.1449T>C (p.Phe483=)
|
|
|
NM_001375405.1(CEP120):c.1465A>C (p.Ile489Leu)
|
|
|
NM_001375405.1(CEP120):c.1477CCT[1] (p.Pro494del)
|
|
|
NM_001375405.1(CEP120):c.1492C>T (p.Arg498Trp)
|
|
|
NM_001375405.1(CEP120):c.151G>C (p.Glu51Gln)
|
|
|
NM_001375405.1(CEP120):c.1527C>T (p.Tyr509=)
|
|
|
NM_001375405.1(CEP120):c.1558C>T (p.Gln520Ter)
|
rs2127059805
|
|
NM_001375405.1(CEP120):c.1580+11_1580+12dup
|
|
|
NM_001375405.1(CEP120):c.1581-6C>T
|
|
|
NM_001375405.1(CEP120):c.1584T>C (p.Ile528=)
|
rs1223191516
|
|
NM_001375405.1(CEP120):c.1588T>C (p.Leu530=)
|
|
|
NM_001375405.1(CEP120):c.1621A>G (p.Ser541Gly)
|
rs1771927226
|
|
NM_001375405.1(CEP120):c.162T>C (p.Thr54=)
|
|
|
NM_001375405.1(CEP120):c.1681A>G (p.Lys561Glu)
|
|
|
NM_001375405.1(CEP120):c.1683A>G (p.Lys561=)
|
|
|
NM_001375405.1(CEP120):c.1684dup (p.Thr562fs)
|
rs2127055990
|
|
NM_001375405.1(CEP120):c.171T>C (p.Ala57=)
|
|
|
NM_001375405.1(CEP120):c.1720C>T (p.Arg574Cys)
|
|
|
NM_001375405.1(CEP120):c.1722T>C (p.Arg574=)
|
|
|
NM_001375405.1(CEP120):c.1741G>A (p.Val581Met)
|
|
|
NM_001375405.1(CEP120):c.1741G>C (p.Val581Leu)
|
|
|
NM_001375405.1(CEP120):c.1742T>C (p.Val581Ala)
|
|
|
NM_001375405.1(CEP120):c.1763+13A>C
|
rs2127055694
|
|
NM_001375405.1(CEP120):c.1763+15A>C
|
|
|
NM_001375405.1(CEP120):c.1764-9T>C
|
|
|
NM_001375405.1(CEP120):c.1767A>C (p.Ser589=)
|
|
|
NM_001375405.1(CEP120):c.1804C>T (p.Leu602=)
|
|
|
NM_001375405.1(CEP120):c.1821A>G (p.Leu607=)
|
|
|
NM_001375405.1(CEP120):c.1831C>G (p.Arg611Gly)
|
rs150132498
|
|
NM_001375405.1(CEP120):c.1832G>A (p.Arg611His)
|
rs758625645
|
|
NM_001375405.1(CEP120):c.1843A>C (p.Ile615Leu)
|
rs753544415
|
|
NM_001375405.1(CEP120):c.1854A>C (p.Ser618=)
|
rs140836572
|
|
NM_001375405.1(CEP120):c.1860+13G>A
|
|
|
NM_001375405.1(CEP120):c.1861-12T>C
|
|
|
NM_001375405.1(CEP120):c.1861-17T>A
|
rs2127049914
|
|
NM_001375405.1(CEP120):c.1861-17T>C
|
rs2127049914
|
|
NM_001375405.1(CEP120):c.1861-2A>G
|
|
|
NM_001375405.1(CEP120):c.1862G>T (p.Gly621Val)
|
|
|
NM_001375405.1(CEP120):c.1887G>A (p.Pro629=)
|
|
|
NM_001375405.1(CEP120):c.1900C>G (p.Pro634Ala)
|
rs748599073
|
|
NM_001375405.1(CEP120):c.1909_1910delinsGT (p.Cys637Val)
|
|
|
NM_001375405.1(CEP120):c.191C>T (p.Ala64Val)
|
|
|
NM_001375405.1(CEP120):c.1923C>T (p.Ile641=)
|
|
|
NM_001375405.1(CEP120):c.1928C>G (p.Thr643Arg)
|
|
|
NM_001375405.1(CEP120):c.192G>T (p.Ala64=)
|
|
|
NM_001375405.1(CEP120):c.1937G>A (p.Arg646His)
|
|
|
NM_001375405.1(CEP120):c.1943C>T (p.Thr648Met)
|
|
|
NM_001375405.1(CEP120):c.1948G>C (p.Glu650Gln)
|
rs1280274264
|
|
NM_001375405.1(CEP120):c.1959A>G (p.Ala653=)
|
|
|
NM_001375405.1(CEP120):c.2013+1G>A
|
|
|
NM_001375405.1(CEP120):c.2014-13C>G
|
rs1228982030
|
|
NM_001375405.1(CEP120):c.2014-14del
|
rs766009969
|
|
NM_001375405.1(CEP120):c.2014-14dup
|
|
|
NM_001375405.1(CEP120):c.2014-2A>G
|
|
|
NM_001375405.1(CEP120):c.2022G>A (p.Gln674=)
|
|
|
NM_001375405.1(CEP120):c.207-12G>C
|
|
|
NM_001375405.1(CEP120):c.207-14_207-13del
|
|
|
NM_001375405.1(CEP120):c.207-19A>C
|
|
|
NM_001375405.1(CEP120):c.2088A>C (p.Ser696=)
|
|
|
NM_001375405.1(CEP120):c.2088A>T (p.Ser696=)
|
rs761862745
|
|
NM_001375405.1(CEP120):c.2103+13G>A
|
|
|
NM_001375405.1(CEP120):c.2103+20T>G
|
|
|
NM_001375405.1(CEP120):c.2103+20_2103+23del
|
rs2127047195
|
|
NM_001375405.1(CEP120):c.2104-12A>G
|
rs1235912647
|
|
NM_001375405.1(CEP120):c.2104-15T>G
|
|
|
NM_001375405.1(CEP120):c.2104-15_2104-14insG
|
|
|
NM_001375405.1(CEP120):c.2104-18_2104-13del
|
rs76942218
|
|
NM_001375405.1(CEP120):c.2104-9A>G
|
|
|
NM_001375405.1(CEP120):c.213G>A (p.Gln71=)
|
|
|
NM_001375405.1(CEP120):c.2160G>A (p.Glu720=)
|
rs891338561
|
|
NM_001375405.1(CEP120):c.2164C>T (p.Arg722Ter)
|
|
|
NM_001375405.1(CEP120):c.2175G>C (p.Gln725His)
|
|
|
NM_001375405.1(CEP120):c.2185G>A (p.Val729Met)
|
|
|
NM_001375405.1(CEP120):c.2196+11C>T
|
|
|
NM_001375405.1(CEP120):c.2196+5G>A
|
|
|
NM_001375405.1(CEP120):c.2196+8A>G
|
|
|
NM_001375405.1(CEP120):c.2197-10T>G
|
|
|
NM_001375405.1(CEP120):c.2197-14G>A
|
|
|
NM_001375405.1(CEP120):c.2197-8G>T
|
|
|
NM_001375405.1(CEP120):c.2206dup (p.Glu736fs)
|
rs2127034914
|
|
NM_001375405.1(CEP120):c.220C>A (p.Pro74Thr)
|
rs1774369109
|
|
NM_001375405.1(CEP120):c.2226_2234del (p.Glu743_Gln745del)
|
|
|
NM_001375405.1(CEP120):c.2266C>T (p.Arg756Cys)
|
|
|
NM_001375405.1(CEP120):c.226A>G (p.Lys76Glu)
|
rs1311902826
|
|
NM_001375405.1(CEP120):c.2283C>G (p.Asp761Glu)
|
rs2127034566
|
|
NM_001375405.1(CEP120):c.2292C>G (p.His764Gln)
|
|
|
NM_001375405.1(CEP120):c.2301A>C (p.Glu767Asp)
|
|
|
NM_001375405.1(CEP120):c.2302C>T (p.Leu768=)
|
|
|
NM_001375405.1(CEP120):c.2313A>G (p.Leu771=)
|
|
|
NM_001375405.1(CEP120):c.2344C>T (p.Arg782Cys)
|
|
|
NM_001375405.1(CEP120):c.2345G>A (p.Arg782His)
|
rs768733124
|
|
NM_001375405.1(CEP120):c.234A>G (p.Gln78=)
|
|
|
NM_001375405.1(CEP120):c.2358+10C>T
|
|
|
NM_001375405.1(CEP120):c.2377A>T (p.Lys793Ter)
|
|
|
NM_001375405.1(CEP120):c.2406A>G (p.Gln802=)
|
|
|
NM_001375405.1(CEP120):c.2418C>A (p.Asp806Glu)
|
rs1770933357
|
|
NM_001375405.1(CEP120):c.2444G>A (p.Arg815His)
|
rs142792779
|
|
NM_001375405.1(CEP120):c.2449C>T (p.Gln817Ter)
|
|
|
NM_001375405.1(CEP120):c.2458A>G (p.Ile820Val)
|
|
|
NM_001375405.1(CEP120):c.2481+20G>T
|
|
|
NM_001375405.1(CEP120):c.2481+6C>T
|
|
|
NM_001375405.1(CEP120):c.2482-20A>G
|
rs1226218781
|
|
NM_001375405.1(CEP120):c.2494A>G (p.Arg832Gly)
|
rs2127002614
|
|
NM_001375405.1(CEP120):c.2524C>T (p.Leu842=)
|
|
|
NM_001375405.1(CEP120):c.2548C>G (p.Arg850Gly)
|
rs772596480
|
|
NM_001375405.1(CEP120):c.2580+2T>A
|
|
|
NM_001375405.1(CEP120):c.2580+4T>G
|
|
|
NM_001375405.1(CEP120):c.2581-16C>A
|
|
|
NM_001375405.1(CEP120):c.2581-16_2581-13del
|
rs1386199029
|
|
NM_001375405.1(CEP120):c.2581-18=
|
rs485847
|
|
NM_001375405.1(CEP120):c.2605C>T (p.Arg869Cys)
|
|
|
NM_001375405.1(CEP120):c.2619G>C (p.Gln873His)
|
rs963767744
|
|
NM_001375405.1(CEP120):c.2638A>C (p.Met880Leu)
|
rs763397454
|
|
NM_001375405.1(CEP120):c.2648G>A (p.Arg883His)
|
|
|
NM_001375405.1(CEP120):c.2659G>A (p.Ala887Thr)
|
|
|
NM_001375405.1(CEP120):c.2707A>G (p.Ile903Val)
|
|
|
NM_001375405.1(CEP120):c.2726+13A>G
|
|
|
NM_001375405.1(CEP120):c.2726+16G>T
|
|
|
NM_001375405.1(CEP120):c.2726+19T>C
|
|
|
NM_001375405.1(CEP120):c.2726+20T>C
|
|
|
NM_001375405.1(CEP120):c.2740G>A (p.Glu914Lys)
|
rs1768853529
|
|
NM_001375405.1(CEP120):c.2743C>T (p.Gln915Ter)
|
|
|
NM_001375405.1(CEP120):c.2753A>T (p.Tyr918Phe)
|
|
|
NM_001375405.1(CEP120):c.2781A>T (p.Gly927=)
|
|
|
NM_001375405.1(CEP120):c.278G>A (p.Gly93Asp)
|
rs1554106320
|
|
NM_001375405.1(CEP120):c.2824G>A (p.Asp942Asn)
|
|
|
NM_001375405.1(CEP120):c.2839C>T (p.Arg947Cys)
|
|
|
NM_001375405.1(CEP120):c.2840G>A (p.Arg947His)
|
rs2303720
|
|
NM_001375405.1(CEP120):c.285C>G (p.Ile95Met)
|
rs367752008
|
|
NM_001375405.1(CEP120):c.285C>T (p.Ile95=)
|
|
|
NM_001375405.1(CEP120):c.286G>A (p.Val96Ile)
|
|
|
NM_001375405.1(CEP120):c.2917C>T (p.Arg973Ter)
|
|
|
NM_001375405.1(CEP120):c.2924T>G (p.Ile975Ser)
|
rs1554098663
|
|
NM_001375405.1(CEP120):c.2931G>A (p.Glu977=)
|
|
|
NM_001375405.1(CEP120):c.2961A>G (p.Ter987=)
|
|
|
NM_001375405.1(CEP120):c.303C>T (p.Thr101=)
|
|
|
NM_001375405.1(CEP120):c.321+1G>A
|
|
|
NM_001375405.1(CEP120):c.325C>T (p.Pro109Ser)
|
|
|
NM_001375405.1(CEP120):c.368A>T (p.Lys123Met)
|
|
|
NM_001375405.1(CEP120):c.397G>C (p.Glu133Gln)
|
|
|
NM_001375405.1(CEP120):c.464-18G>A
|
|
|
NM_001375405.1(CEP120):c.464-19C>A
|
rs776387918
|
|
NM_001375405.1(CEP120):c.464-8C>G
|
|
|
NM_001375405.1(CEP120):c.464-9T>C
|
|
|
NM_001375405.1(CEP120):c.469G>A (p.Ala157Thr)
|
rs1379324177
|
|
NM_001375405.1(CEP120):c.49+9C>T
|
rs774559516
|
|
NM_001375405.1(CEP120):c.50-10G>C
|
|
|
NM_001375405.1(CEP120):c.50-17A>G
|
|
|
NM_001375405.1(CEP120):c.50-2113_206+103del
|
|
|
NM_001375405.1(CEP120):c.528C>T (p.Gly176=)
|
|
|
NM_001375405.1(CEP120):c.52C>T (p.Arg18Trp)
|
rs371099291
|
|
NM_001375405.1(CEP120):c.559A>C (p.Thr187Pro)
|
|
|
NM_001375405.1(CEP120):c.60C>T (p.Phe20=)
|
|
|
NM_001375405.1(CEP120):c.613-7T>C
|
|
|
NM_001375405.1(CEP120):c.621A>G (p.Pro207=)
|
rs754583755
|
|
NM_001375405.1(CEP120):c.621A>T (p.Pro207=)
|
|
|
NM_001375405.1(CEP120):c.649C>T (p.Pro217Ser)
|
rs1772538722
|
|
NM_001375405.1(CEP120):c.672T>C (p.Ser224=)
|
|
|
NM_001375405.1(CEP120):c.736G>A (p.Glu246Lys)
|
|
|
NM_001375405.1(CEP120):c.762del (p.Ser254fs)
|
rs1772529903
|
|
NM_001375405.1(CEP120):c.76C>T (p.His26Tyr)
|
|
|
NM_001375405.1(CEP120):c.772A>G (p.Ile258Val)
|
|
|
NM_001375405.1(CEP120):c.779G>A (p.Arg260His)
|
rs189429890
|
|
NM_001375405.1(CEP120):c.779G>T (p.Arg260Leu)
|
rs189429890
|
|
NM_001375405.1(CEP120):c.797A>G (p.Gln266Arg)
|
|
|
NM_001375405.1(CEP120):c.811-14C>G
|
|
|
NM_001375405.1(CEP120):c.842G>A (p.Gly281Glu)
|
|
|
NM_001375405.1(CEP120):c.882C>T (p.Gly294=)
|
|
|
NM_001375405.1(CEP120):c.896A>G (p.Asn299Ser)
|
|
|
NM_001375405.1(CEP120):c.94G>A (p.Ala32Thr)
|
|
|
NM_001375405.1(CEP120):c.991A>C (p.Thr331Pro)
|
|
|