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.417+3A>G
|
rs181264654
|
0.00187
|
NM_016122.3(CEP83):c.1565T>G (p.Leu522Arg)
|
rs150415429
|
0.00133
|
NM_016122.3(CEP83):c.1634G>A (p.Arg545His)
|
rs187309637
|
0.00076
|
NM_016122.3(CEP83):c.1427G>T (p.Ser476Ile)
|
rs568769580
|
0.00038
|
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.1554A>G (p.Glu518=)
|
rs369224554
|
0.00016
|
NM_016122.3(CEP83):c.1560G>A (p.Ala520=)
|
rs375761489
|
0.00014
|
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.1812-8T>C
|
rs747379878
|
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.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.1383A>G (p.Ala461=)
|
rs768081253
|
0.00004
|
NM_016122.3(CEP83):c.1590G>A (p.Glu530=)
|
rs552958562
|
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.961C>T (p.Leu321=)
|
rs768055624
|
0.00004
|
NM_016122.3(CEP83):c.120A>G (p.Leu40=)
|
rs746359176
|
0.00003
|
NM_016122.3(CEP83):c.1470T>C (p.Asn490=)
|
rs780167307
|
0.00003
|
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.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.549+19G>A
|
rs1431950751
|
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.1011A>G (p.Leu337=)
|
rs761510362
|
0.00001
|
NM_016122.3(CEP83):c.1056G>A (p.Gln352=)
|
rs1370476857
|
0.00001
|
NM_016122.3(CEP83):c.1284G>A (p.Glu428=)
|
rs775468824
|
0.00001
|
NM_016122.3(CEP83):c.1365T>C (p.Ile455=)
|
rs529684300
|
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.1878T>C (p.His626=)
|
rs1236967361
|
0.00001
|
NM_016122.3(CEP83):c.258C>T (p.Leu86=)
|
rs775780724
|
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.456C>A (p.Arg152=)
|
rs759273602
|
0.00001
|
NM_016122.3(CEP83):c.480A>G (p.Ser160=)
|
rs780444539
|
0.00001
|
NM_016122.3(CEP83):c.582A>G (p.Leu194=)
|
rs762860899
|
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.792A>G (p.Arg264=)
|
rs773428280
|
0.00001
|
NM_016122.3(CEP83):c.855A>G (p.Gln285=)
|
rs1277472976
|
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.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.1101G>C (p.Val367=)
|
rs2137015997
|
|
NM_016122.3(CEP83):c.1116G>A (p.Lys372=)
|
rs2137015791
|
|
NM_016122.3(CEP83):c.1126T>C (p.Leu376=)
|
|
|
NM_016122.3(CEP83):c.114A>G (p.Glu38=)
|
|
|
NM_016122.3(CEP83):c.1193+10T>C
|
|
|
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.1263T>C (p.Ser421=)
|
|
|
NM_016122.3(CEP83):c.1281A>G (p.Glu427=)
|
|
|
NM_016122.3(CEP83):c.1320C>T (p.Thr440=)
|
|
|
NM_016122.3(CEP83):c.1321A>G (p.Arg441Gly)
|
rs577668407
|
|
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.1392A>G (p.Glu464=)
|
rs2136541098
|
|
NM_016122.3(CEP83):c.1413A>G (p.Leu471=)
|
|
|
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.1446G>A (p.Val482=)
|
|
|
NM_016122.3(CEP83):c.1449T>A (p.Thr483=)
|
|
|
NM_016122.3(CEP83):c.1539T>C (p.Phe513=)
|
rs2136514567
|
|
NM_016122.3(CEP83):c.1542A>G (p.Arg514=)
|
|
|
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.1617G>A (p.Lys539=)
|
|
|
NM_016122.3(CEP83):c.1680G>T (p.Leu560=)
|
rs747886072
|
|
NM_016122.3(CEP83):c.1707+15T>C
|
|
|
NM_016122.3(CEP83):c.1708-5T>C
|
rs1970107246
|
|
NM_016122.3(CEP83):c.173+18A>G
|
|
|
NM_016122.3(CEP83):c.174-5del
|
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.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.1824T>C (p.Pro608=)
|
|
|
NM_016122.3(CEP83):c.1863T>C (p.Asp621=)
|
rs1969606999
|
|
NM_016122.3(CEP83):c.1971C>T (p.Ser657=)
|
|
|
NM_016122.3(CEP83):c.1980A>T (p.Leu660=)
|
|
|
NM_016122.3(CEP83):c.2001+20G>T
|
rs2136275434
|
|
NM_016122.3(CEP83):c.2002-15C>G
|
|
|
NM_016122.3(CEP83):c.2002-18del
|
|
|
NM_016122.3(CEP83):c.201A>G (p.Gln67=)
|
rs1442068953
|
|
NM_016122.3(CEP83):c.2028T>C (p.Ser676=)
|
|
|
NM_016122.3(CEP83):c.2036G>A (p.Arg679His)
|
|
|
NM_016122.3(CEP83):c.2046A>G (p.Leu682=)
|
rs1593051395
|
|
NM_016122.3(CEP83):c.2061A>G (p.Thr687=)
|
|
|
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.216C>T (p.His72=)
|
|
|
NM_016122.3(CEP83):c.246A>G (p.Glu82=)
|
|
|
NM_016122.3(CEP83):c.288A>T (p.Val96=)
|
|
|
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.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.462A>G (p.Glu154=)
|
|
|
NM_016122.3(CEP83):c.474C>G (p.Leu158=)
|
|
|
NM_016122.3(CEP83):c.495G>A (p.Gln165=)
|
|
|
NM_016122.3(CEP83):c.507T>C (p.Tyr169=)
|
|
|
NM_016122.3(CEP83):c.525A>G (p.Glu175=)
|
|
|
NM_016122.3(CEP83):c.540T>C (p.Tyr180=)
|
rs2063212184
|
|
NM_016122.3(CEP83):c.549+14T>C
|
|
|
NM_016122.3(CEP83):c.639T>C (p.Leu213=)
|
|
|
NM_016122.3(CEP83):c.651A>G (p.Lys217=)
|
|
|
NM_016122.3(CEP83):c.711A>G (p.Glu237=)
|
|
|
NM_016122.3(CEP83):c.741T>C (p.Asn247=)
|
|
|
NM_016122.3(CEP83):c.786A>T (p.Thr262=)
|
|
|
NM_016122.3(CEP83):c.801+16C>T
|
|
|
NM_016122.3(CEP83):c.801+20C>G
|
rs747525069
|
|
NM_016122.3(CEP83):c.801+7T>G
|
rs2137170599
|
|
NM_016122.3(CEP83):c.802-13G>T
|
|
|
NM_016122.3(CEP83):c.802-18A>G
|
|
|
NM_016122.3(CEP83):c.802-7A>G
|
|
|
NM_016122.3(CEP83):c.802-9G>A
|
rs2061516640
|
|
NM_016122.3(CEP83):c.831A>G (p.Ala277=)
|
rs2137120833
|
|
NM_016122.3(CEP83):c.858A>G (p.Ser286=)
|
rs2137120227
|
|
NM_016122.3(CEP83):c.873T>C (p.Asn291=)
|
|
|
NM_016122.3(CEP83):c.888T>C (p.Asn296=)
|
|
|
NM_016122.3(CEP83):c.903T>G (p.Ala301=)
|
|
|
NM_016122.3(CEP83):c.933+18T>G
|
|
|
NM_016122.3(CEP83):c.933+19C>A
|
rs1228748483
|
|
NM_016122.3(CEP83):c.933+19_933+20del
|
|
|
NM_016122.3(CEP83):c.933+7T>G
|
|
|
NM_016122.3(CEP83):c.948A>G (p.Lys316=)
|
|
|
NM_016122.3(CEP83):c.984G>C (p.Leu328=)
|
rs2061221198
|
|