NM_014704.4(CEP104):c.1836+7A>G
|
rs6413779
|
0.91575
|
NM_014704.4(CEP104):c.744A>G (p.Glu248=)
|
rs1891941
|
0.91572
|
NM_014704.4(CEP104):c.2152-11C>T
|
rs6663840
|
0.38899
|
NM_014704.4(CEP104):c.1240T>A (p.Leu414Ile)
|
rs2275824
|
0.32901
|
NM_014704.4(CEP104):c.566+6A>T
|
rs72848418
|
0.12842
|
NM_014704.4(CEP104):c.2057C>T (p.Ala686Val)
|
rs2275831
|
0.08430
|
NM_014704.4(CEP104):c.735+17A>G
|
rs2298224
|
0.02006
|
NM_014704.4(CEP104):c.681G>A (p.Lys227=)
|
rs61746709
|
0.01114
|
NM_014704.4(CEP104):c.2569G>A (p.Glu857Lys)
|
rs111626991
|
0.00830
|
NM_014704.4(CEP104):c.1836+14G>A
|
rs75027831
|
0.00691
|
NM_014704.4(CEP104):c.552A>T (p.Glu184Asp)
|
rs61745578
|
0.00658
|
NM_014704.4(CEP104):c.1363C>T (p.Leu455=)
|
rs115015364
|
0.00657
|
NM_014704.4(CEP104):c.177G>A (p.Leu59=)
|
rs79859848
|
0.00657
|
NM_014704.4(CEP104):c.1386A>G (p.Leu462=)
|
rs76234817
|
0.00655
|
NM_014704.4(CEP104):c.416T>C (p.Ile139Thr)
|
rs76925798
|
0.00433
|
NM_014704.4(CEP104):c.1884G>T (p.Thr628=)
|
rs12144567
|
0.00398
|
NM_014704.4(CEP104):c.1914A>G (p.Arg638=)
|
rs2275829
|
0.00386
|
NM_014704.4(CEP104):c.1317+17A>C
|
rs370703159
|
0.00363
|
NM_014704.4(CEP104):c.1308A>T (p.Gly436=)
|
rs148455387
|
0.00305
|
NM_014704.4(CEP104):c.490-18G>A
|
rs150128798
|
0.00289
|
NM_014704.4(CEP104):c.1966C>T (p.Arg656Cys)
|
rs148465057
|
0.00276
|
NM_014704.4(CEP104):c.1169A>G (p.His390Arg)
|
rs145728798
|
0.00191
|
NM_014704.4(CEP104):c.588G>A (p.Pro196=)
|
rs141751043
|
0.00173
|
NM_014704.4(CEP104):c.1340C>T (p.Thr447Met)
|
rs138897239
|
0.00142
|
NM_014704.4(CEP104):c.2736C>T (p.Gly912=)
|
rs148360595
|
0.00114
|
NM_014704.4(CEP104):c.2124A>G (p.Ala708=)
|
rs139817583
|
0.00107
|
NM_014704.4(CEP104):c.2255+10G>A
|
rs140847871
|
0.00106
|
NM_014704.4(CEP104):c.664C>T (p.Arg222Trp)
|
rs142899837
|
0.00050
|
NM_014704.4(CEP104):c.1453G>A (p.Val485Ile)
|
rs11800891
|
0.00047
|
NM_014704.4(CEP104):c.2439C>T (p.Tyr813=)
|
rs78228821
|
0.00046
|
NM_014704.4(CEP104):c.843C>T (p.Ala281=)
|
rs150027992
|
0.00046
|
NM_014704.4(CEP104):c.2644G>T (p.Ala882Ser)
|
rs185664269
|
0.00044
|
NM_014704.4(CEP104):c.2621G>A (p.Arg874His)
|
rs139076247
|
0.00041
|
NM_014704.4(CEP104):c.2423G>A (p.Gly808Glu)
|
rs148877817
|
0.00040
|
NM_014704.4(CEP104):c.1653T>C (p.Phe551=)
|
rs141730324
|
0.00039
|
NM_014704.4(CEP104):c.278G>A (p.Arg93Gln)
|
rs199576006
|
0.00037
|
NM_014704.4(CEP104):c.2234C>T (p.Pro745Leu)
|
rs201407033
|
0.00031
|
NM_014704.4(CEP104):c.2282G>A (p.Ser761Asn)
|
rs537512159
|
0.00029
|
NM_014704.4(CEP104):c.550G>C (p.Glu184Gln)
|
rs146922115
|
0.00028
|
NM_014704.4(CEP104):c.626A>G (p.Glu209Gly)
|
rs140029326
|
0.00028
|
NM_014704.4(CEP104):c.2766C>T (p.Tyr922=)
|
rs750794560
|
0.00027
|
NM_014704.4(CEP104):c.1883C>T (p.Thr628Met)
|
rs148397021
|
0.00026
|
NM_014704.4(CEP104):c.932G>A (p.Arg311His)
|
rs140022279
|
0.00025
|
NM_014704.4(CEP104):c.1851C>T (p.Ala617=)
|
rs150585805
|
0.00022
|
NM_014704.4(CEP104):c.612G>A (p.Met204Ile)
|
rs141906706
|
0.00022
|
NM_014704.4(CEP104):c.906T>G (p.Phe302Leu)
|
rs529153686
|
0.00021
|
NM_014704.4(CEP104):c.1820T>C (p.Ile607Thr)
|
rs140512094
|
0.00020
|
NM_014704.4(CEP104):c.2182A>G (p.Asn728Asp)
|
rs144805659
|
0.00019
|
NM_014704.4(CEP104):c.2571+6G>A
|
rs373332298
|
0.00016
|
NM_014704.4(CEP104):c.1953C>T (p.Asp651=)
|
rs187512647
|
0.00015
|
NM_014704.4(CEP104):c.487A>C (p.Thr163Pro)
|
rs200208264
|
0.00015
|
NM_014704.4(CEP104):c.2564G>A (p.Gly855Glu)
|
rs148840465
|
0.00014
|
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter)
|
rs144744629
|
0.00011
|
NM_014704.4(CEP104):c.1120-5T>A
|
rs200748628
|
0.00011
|
NM_014704.4(CEP104):c.1950A>G (p.Pro650=)
|
rs150482833
|
0.00011
|
NM_014704.4(CEP104):c.2737G>A (p.Gly913Arg)
|
rs201733773
|
0.00011
|
NM_014704.4(CEP104):c.1297G>A (p.Asp433Asn)
|
rs149976444
|
0.00009
|
NM_014704.4(CEP104):c.272G>A (p.Arg91Gln)
|
rs200411994
|
0.00009
|
NM_014704.4(CEP104):c.113+14G>A
|
rs369214357
|
0.00008
|
NM_014704.4(CEP104):c.1485+20G>A
|
rs368037840
|
0.00008
|
NM_014704.4(CEP104):c.561C>T (p.Tyr187=)
|
rs374191673
|
0.00007
|
NM_014704.4(CEP104):c.1194G>A (p.Pro398=)
|
rs372294561
|
0.00006
|
NM_014704.4(CEP104):c.1583G>C (p.Arg528Thr)
|
rs753327824
|
0.00006
|
NM_014704.4(CEP104):c.2649G>A (p.Pro883=)
|
rs747029336
|
0.00006
|
NM_014704.4(CEP104):c.1317+3A>T
|
rs35165199
|
0.00005
|
NM_014704.4(CEP104):c.1570C>T (p.His524Tyr)
|
rs778672499
|
0.00005
|
NM_014704.4(CEP104):c.2658G>A (p.Gln886=)
|
rs202022682
|
0.00004
|
NM_014704.4(CEP104):c.2662+10A>T
|
rs552644535
|
0.00004
|
NM_014704.4(CEP104):c.2755A>G (p.Ser919Gly)
|
rs755406055
|
0.00004
|
NM_014704.4(CEP104):c.342A>C (p.Lys114Asn)
|
rs779086283
|
0.00004
|
NM_014704.4(CEP104):c.46G>A (p.Glu16Lys)
|
rs200997681
|
0.00004
|
NM_014704.4(CEP104):c.535G>A (p.Glu179Lys)
|
rs765557028
|
0.00004
|
NM_014704.4(CEP104):c.1631T>A (p.Leu544His)
|
rs772547053
|
0.00003
|
NM_014704.4(CEP104):c.560A>G (p.Tyr187Cys)
|
rs749228961
|
0.00003
|
NM_014704.4(CEP104):c.781G>A (p.Val261Met)
|
rs768279838
|
0.00003
|
NM_014704.4(CEP104):c.1485C>T (p.Ser495=)
|
rs371540690
|
0.00002
|
NM_014704.4(CEP104):c.2001A>G (p.Gly667=)
|
rs767101698
|
0.00002
|
NM_014704.4(CEP104):c.719T>C (p.Ile240Thr)
|
rs752655065
|
0.00002
|
NM_014704.4(CEP104):c.1226G>A (p.Arg409Gln)
|
rs143501631
|
0.00001
|
NM_014704.4(CEP104):c.14T>C (p.Ile5Thr)
|
rs778380560
|
0.00001
|
NM_014704.4(CEP104):c.1659+8C>T
|
rs778868893
|
0.00001
|
NM_014704.4(CEP104):c.2137C>G (p.Gln713Glu)
|
rs1311531310
|
0.00001
|
NM_014704.4(CEP104):c.2160A>G (p.Glu720=)
|
rs754348247
|
0.00001
|
NM_014704.4(CEP104):c.22G>T (p.Val8Leu)
|
rs1195974342
|
0.00001
|
NM_014704.4(CEP104):c.2441G>A (p.Arg814His)
|
rs367663524
|
0.00001
|
NM_014704.4(CEP104):c.2514G>A (p.Pro838=)
|
rs578262183
|
0.00001
|
NM_014704.4(CEP104):c.313A>G (p.Lys105Glu)
|
rs55720731
|
0.00001
|
NM_014704.4(CEP104):c.453T>G (p.Ile151Met)
|
rs757425751
|
0.00001
|
NM_014704.4(CEP104):c.686G>A (p.Arg229His)
|
rs1027030686
|
0.00001
|
NM_014704.4(CEP104):c.729G>A (p.Leu243=)
|
rs897283929
|
0.00001
|
NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter)
|
rs372048855
|
0.00001
|
NC_000001.10:g.(?_3731966)_(3768971_?)dup
|
|
|
NC_000001.10:g.(?_861322)_(3768971_?)del
|
|
|
NC_000001.11:g.(?_3815382)_(3852427_?)del
|
|
|
NC_000001.11:g.3823227_3823243del
|
|
|
NM_014704.4(CEP104):c.1033C>G (p.Pro345Ala)
|
|
|
NM_014704.4(CEP104):c.1082C>G (p.Pro361Arg)
|
|
|
NM_014704.4(CEP104):c.1082_1091del (p.Pro361fs)
|
rs776094913
|
|
NM_014704.4(CEP104):c.1083G>A (p.Pro361=)
|
rs61740614
|
|
NM_014704.4(CEP104):c.113+19G>A
|
|
|
NM_014704.4(CEP104):c.113+7A>C
|
|
|
NM_014704.4(CEP104):c.1136A>G (p.Tyr379Cys)
|
|
|
NM_014704.4(CEP104):c.1199T>A (p.Met400Lys)
|
|
|
NM_014704.4(CEP104):c.1213A>G (p.Ile405Val)
|
|
|
NM_014704.4(CEP104):c.1216A>G (p.Ser406Gly)
|
|
|
NM_014704.4(CEP104):c.1217G>A (p.Ser406Asn)
|
rs1570811185
|
|
NM_014704.4(CEP104):c.123G>A (p.Gln41=)
|
|
|
NM_014704.4(CEP104):c.1317+12_1317+13insC
|
|
|
NM_014704.4(CEP104):c.1317+15_1317+16insAAC
|
rs762038535
|
|
NM_014704.4(CEP104):c.1317+15_1317+16insC
|
|
|
NM_014704.4(CEP104):c.1317+16A>C
|
|
|
NM_014704.4(CEP104):c.1317+17_1317+18insC
|
|
|
NM_014704.4(CEP104):c.1331A>G (p.Tyr444Cys)
|
|
|
NM_014704.4(CEP104):c.1444G>A (p.Val482Ile)
|
|
|
NM_014704.4(CEP104):c.1473C>T (p.Asp491=)
|
|
|
NM_014704.4(CEP104):c.1479G>A (p.Val493=)
|
|
|
NM_014704.4(CEP104):c.1485+14G>A
|
rs2124668323
|
|
NM_014704.4(CEP104):c.1496C>T (p.Ala499Val)
|
|
|
NM_014704.4(CEP104):c.1550T>C (p.Leu517Pro)
|
rs1644264163
|
|
NM_014704.4(CEP104):c.1588A>G (p.Ile530Val)
|
rs561088543
|
|
NM_014704.4(CEP104):c.1635C>T (p.Arg545=)
|
|
|
NM_014704.4(CEP104):c.1636G>A (p.Val546Ile)
|
|
|
NM_014704.4(CEP104):c.163C>T (p.Arg55Ter)
|
|
|
NM_014704.4(CEP104):c.1651T>G (p.Phe551Val)
|
|
|
NM_014704.4(CEP104):c.1659+16C>T
|
|
|
NM_014704.4(CEP104):c.1659+17G>A
|
|
|
NM_014704.4(CEP104):c.1660-4A>C
|
|
|
NM_014704.4(CEP104):c.166A>T (p.Ile56Leu)
|
rs2124693591
|
|
NM_014704.4(CEP104):c.1716G>A (p.Val572=)
|
rs1570796463
|
|
NM_014704.4(CEP104):c.1745del (p.His582fs)
|
|
|
NM_014704.4(CEP104):c.1809G>A (p.Ser603=)
|
|
|
NM_014704.4(CEP104):c.1836+16G>A
|
|
|
NM_014704.4(CEP104):c.1877G>A (p.Arg626His)
|
|
|
NM_014704.4(CEP104):c.1905C>T (p.Asp635=)
|
rs2124656471
|
|
NM_014704.4(CEP104):c.1906A>G (p.Met636Val)
|
|
|
NM_014704.4(CEP104):c.2005G>A (p.Ala669Thr)
|
rs761349278
|
|
NM_014704.4(CEP104):c.2043+7del
|
|
|
NM_014704.4(CEP104):c.2111G>A (p.Gly704Glu)
|
rs139181137
|
|
NM_014704.4(CEP104):c.2127G>C (p.Leu709=)
|
rs1228921351
|
|
NM_014704.4(CEP104):c.2151+15C>T
|
|
|
NM_014704.4(CEP104):c.2151+16G>A
|
|
|
NM_014704.4(CEP104):c.2151+3T>C
|
rs771237087
|
|
NM_014704.4(CEP104):c.2183A>G (p.Asn728Ser)
|
|
|
NM_014704.4(CEP104):c.2214T>C (p.Pro738=)
|
rs2124649026
|
|
NM_014704.4(CEP104):c.2246A>C (p.Tyr749Ser)
|
|
|
NM_014704.4(CEP104):c.2255+8G>A
|
|
|
NM_014704.4(CEP104):c.2325G>A (p.Lys775=)
|
|
|
NM_014704.4(CEP104):c.2344A>C (p.Arg782=)
|
|
|
NM_014704.4(CEP104):c.2365-18C>G
|
|
|
NM_014704.4(CEP104):c.2460C>T (p.Phe820=)
|
|
|
NM_014704.4(CEP104):c.2503+17A>G
|
|
|
NM_014704.4(CEP104):c.2504-14T>A
|
|
|
NM_014704.4(CEP104):c.254C>T (p.Ala85Val)
|
|
|
NM_014704.4(CEP104):c.2601C>T (p.Ala867=)
|
|
|
NM_014704.4(CEP104):c.2662+12C>T
|
|
|
NM_014704.4(CEP104):c.2662+13G>A
|
|
|
NM_014704.4(CEP104):c.2684C>A (p.Ala895Glu)
|
rs754145994
|
|
NM_014704.4(CEP104):c.2684C>T (p.Ala895Val)
|
rs754145994
|
|
NM_014704.4(CEP104):c.2703A>G (p.Ser901=)
|
rs369737290
|
|
NM_014704.4(CEP104):c.2709C>T (p.Ala903=)
|
|
|
NM_014704.4(CEP104):c.2730G>A (p.Pro910=)
|
|
|
NM_014704.4(CEP104):c.2751C>T (p.Ser917=)
|
rs538187962
|
|
NM_014704.4(CEP104):c.2775C>T (p.Arg925=)
|
|
|
NM_014704.4(CEP104):c.286G>C (p.Gly96Arg)
|
rs2124693275
|
|
NM_014704.4(CEP104):c.290A>G (p.Tyr97Cys)
|
|
|
NM_014704.4(CEP104):c.300_301del (p.Leu100_Cys101insTer)
|
rs1484807480
|
|
NM_014704.4(CEP104):c.390C>T (p.His130=)
|
rs1011573112
|
|
NM_014704.4(CEP104):c.426+19C>T
|
|
|
NM_014704.4(CEP104):c.426+20G>A
|
|
|
NM_014704.4(CEP104):c.45C>T (p.His15=)
|
|
|
NM_014704.4(CEP104):c.485A>G (p.Asn162Ser)
|
rs867268929
|
|
NM_014704.4(CEP104):c.489+15T>C
|
|
|
NM_014704.4(CEP104):c.490G>T (p.Ala164Ser)
|
rs140856596
|
|
NM_014704.4(CEP104):c.497G>A (p.Arg166Gln)
|
|
|
NM_014704.4(CEP104):c.520C>T (p.Leu174Phe)
|
|
|
NM_014704.4(CEP104):c.558G>A (p.Thr186=)
|
rs2275822
|
|
NM_014704.4(CEP104):c.566+12G>A
|
|
|
NM_014704.4(CEP104):c.590T>C (p.Leu197Pro)
|
|
|
NM_014704.4(CEP104):c.595G>A (p.Asp199Asn)
|
rs1557681983
|
|
NM_014704.4(CEP104):c.606T>C (p.Phe202=)
|
|
|
NM_014704.4(CEP104):c.65G>A (p.Arg22Gln)
|
|
|
NM_014704.4(CEP104):c.736-19_736-18delinsAT
|
rs2124676799
|
|
NM_014704.4(CEP104):c.772C>T (p.Arg258Cys)
|
|
|
NM_014704.4(CEP104):c.805G>A (p.Ala269Thr)
|
|
|
NM_014704.4(CEP104):c.817A>C (p.Lys273Gln)
|
|
|
NM_014704.4(CEP104):c.838C>T (p.Arg280Cys)
|
rs139901107
|
|
NM_014704.4(CEP104):c.83C>T (p.Ala28Val)
|
|
|
NM_014704.4(CEP104):c.885C>T (p.Ala295=)
|
|
|
NM_014704.4(CEP104):c.886G>A (p.Glu296Lys)
|
|
|
NM_014704.4(CEP104):c.891+20C>T
|
|
|
NM_014704.4(CEP104):c.892-16C>G
|
|
|
NM_014704.4(CEP104):c.906T>A (p.Phe302Leu)
|
|
|
NM_014704.4(CEP104):c.927C>T (p.Leu309=)
|
|
|
NM_014704.4(CEP104):c.928G>A (p.Ala310Thr)
|
rs370867227
|
|
NM_014704.4(CEP104):c.931C>T (p.Arg311Cys)
|
|
|
NM_014704.4(CEP104):c.961A>G (p.Met321Val)
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NM_014704.4(CEP104):c.984A>G (p.Glu328=)
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