|
NM_014956.5(CEP164):c.4299G>T (p.Ser1433=)
|
rs522885
|
0.96045
|
|
NM_014956.5(CEP164):c.1482T>C (p.Pro494=)
|
rs897836
|
0.93246
|
|
NM_014956.5(CEP164):c.1409+100G>C
|
rs2061293
|
0.93022
|
|
NM_014956.5(CEP164):c.3090-16A>C
|
rs693147
|
0.60559
|
|
NM_014956.5(CEP164):c.766-36T>A
|
rs2305826
|
0.54836
|
|
NM_014956.5(CEP164):c.1318-187A>G
|
rs2305828
|
0.52309
|
|
NM_014956.5(CEP164):c.3356A>G (p.Gln1119Arg)
|
rs573455
|
0.47249
|
|
NM_014956.5(CEP164):c.1934+70T>C
|
rs501776
|
0.36182
|
|
NM_014956.5(CEP164):c.3090-122G>C
|
rs484988
|
0.34890
|
|
NM_014956.5(CEP164):c.2963C>G (p.Thr988Ser)
|
rs2305830
|
0.28431
|
|
NM_014956.5(CEP164):c.2914-169G>A
|
rs11216375
|
0.27114
|
|
NM_014956.5(CEP164):c.-21-14C>T
|
rs573801
|
0.23045
|
|
NM_014956.5(CEP164):c.553-166A>G
|
rs7934067
|
0.21805
|
|
NM_014956.5(CEP164):c.281G>A (p.Ser94Asn)
|
rs490262
|
0.21761
|
|
NM_014956.5(CEP164):c.394-59C>T
|
rs2305825
|
0.21759
|
|
NM_014956.5(CEP164):c.687+173C>T
|
rs11828506
|
0.21052
|
|
NM_014956.5(CEP164):c.394-160A>G
|
rs17500548
|
0.19211
|
|
NM_014956.5(CEP164):c.2361+84T>C
|
rs478693
|
0.16769
|
|
NM_014956.5(CEP164):c.1725-43G>T
|
rs2305829
|
0.15694
|
|
NM_014956.5(CEP164):c.1935-5C>G
|
rs897837
|
0.12409
|
|
NM_014956.5(CEP164):c.4287-46C>T
|
rs67023719
|
0.07959
|
|
NM_014956.5(CEP164):c.3089+28T>C
|
rs483837
|
0.06442
|
|
NM_014956.5(CEP164):c.3501+227G>T
|
rs569845
|
0.03871
|
|
NM_014956.5(CEP164):c.2205C>T (p.Ser735=)
|
rs494553
|
0.03797
|
|
NM_014956.5(CEP164):c.4119C>T (p.Asn1373=)
|
rs73016324
|
0.02599
|
|
NM_014956.5(CEP164):c.1430A>G (p.His477Arg)
|
rs117083334
|
0.02549
|
|
NM_014956.5(CEP164):c.1318-111C>A
|
rs75525736
|
0.02271
|
|
NM_014956.5(CEP164):c.3927C>T (p.Thr1309=)
|
rs115051850
|
0.01922
|
|
NM_014956.5(CEP164):c.3716C>T (p.Pro1239Leu)
|
rs61995733
|
0.01531
|
|
NM_014956.5(CEP164):c.194+13G>T
|
rs116804346
|
0.01147
|
|
NM_014956.5(CEP164):c.1480C>A (p.Pro494Thr)
|
rs114396665
|
0.00703
|
|
NM_014956.5(CEP164):c.3932C>G (p.Thr1311Ser)
|
rs61743854
|
0.00444
|
|
NM_014956.5(CEP164):c.2655C>T (p.Thr885=)
|
rs61737637
|
0.00422
|
|
NM_014956.5(CEP164):c.1639G>A (p.Glu547Lys)
|
rs116343381
|
0.00313
|
|
NM_014956.5(CEP164):c.3773C>T (p.Ser1258Phe)
|
rs148424362
|
0.00302
|
|
NM_014956.5(CEP164):c.3496G>C (p.Glu1166Gln)
|
rs61745877
|
0.00242
|
|
NM_014956.5(CEP164):c.3225C>T (p.Thr1075=)
|
rs144421639
|
0.00210
|
|
NM_014956.5(CEP164):c.2772C>G (p.Leu924=)
|
rs117473319
|
0.00201
|
|
NM_014956.5(CEP164):c.3032T>C (p.Leu1011Pro)
|
rs138868323
|
0.00177
|
|
NM_014956.5(CEP164):c.3365G>A (p.Arg1122His)
|
rs144910893
|
0.00134
|
|
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)
|
rs147398904
|
0.00111
|
|
NM_014956.5(CEP164):c.3332G>A (p.Arg1111His)
|
rs61740738
|
0.00110
|
|
NM_014956.5(CEP164):c.3556C>T (p.Leu1186=)
|
rs138861857
|
0.00108
|
|
NM_014956.5(CEP164):c.1484C>G (p.Pro495Arg)
|
rs59763167
|
0.00096
|
|
NM_014956.5(CEP164):c.1691C>T (p.Ala564Val)
|
rs144557388
|
0.00096
|
|
NM_014956.5(CEP164):c.1220C>T (p.Ser407Phe)
|
rs150314805
|
0.00084
|
|
NM_014956.5(CEP164):c.3806G>A (p.Arg1269Gln)
|
rs150963269
|
0.00080
|
|
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp)
|
rs112209873
|
0.00077
|
|
NM_014956.5(CEP164):c.3019C>T (p.Arg1007Cys)
|
rs115387935
|
0.00076
|
|
NM_014956.5(CEP164):c.2021G>A (p.Arg674Gln)
|
rs142184414
|
0.00075
|
|
NM_014956.5(CEP164):c.194+20G>A
|
rs184566454
|
0.00070
|
|
NM_014956.5(CEP164):c.3717G>A (p.Pro1239=)
|
rs149567170
|
0.00068
|
|
NM_014956.5(CEP164):c.548T>A (p.Met183Lys)
|
rs144206271
|
0.00067
|
|
NM_014956.5(CEP164):c.2362-15C>T
|
rs201819583
|
0.00061
|
|
NM_014956.5(CEP164):c.1135A>G (p.Ser379Gly)
|
rs200122409
|
0.00058
|
|
NM_014956.5(CEP164):c.1692G>A (p.Ala564=)
|
rs143512199
|
0.00058
|
|
NM_014956.5(CEP164):c.2617-18G>A
|
rs199987090
|
0.00055
|
|
NM_014956.5(CEP164):c.1410-2A>G
|
rs200074826
|
0.00054
|
|
NM_014956.5(CEP164):c.2844+8A>G
|
rs142545580
|
0.00052
|
|
NM_014956.5(CEP164):c.2662C>G (p.Leu888Val)
|
rs142044303
|
0.00045
|
|
NM_014956.5(CEP164):c.3001C>G (p.Leu1001Val)
|
rs199637319
|
0.00043
|
|
NM_014956.5(CEP164):c.2339C>T (p.Ser780Leu)
|
rs138384561
|
0.00042
|
|
NM_014956.5(CEP164):c.1409+10G>A
|
rs199783386
|
0.00041
|
|
NM_014956.5(CEP164):c.2617-13A>G
|
rs372968944
|
0.00041
|
|
NM_014956.5(CEP164):c.748G>A (p.Gly250Ser)
|
rs146501105
|
0.00041
|
|
NM_014956.5(CEP164):c.726C>T (p.His242=)
|
rs549905287
|
0.00036
|
|
NM_014956.5(CEP164):c.1792G>A (p.Ala598Thr)
|
rs150956860
|
0.00032
|
|
NM_014956.5(CEP164):c.2244G>T (p.Leu748=)
|
rs1377025009
|
0.00031
|
|
NM_014956.5(CEP164):c.3435G>A (p.Ala1145=)
|
rs149964584
|
0.00029
|
|
NM_014956.5(CEP164):c.2206G>A (p.Glu736Lys)
|
rs146053426
|
0.00028
|
|
NM_014956.5(CEP164):c.4131G>A (p.Pro1377=)
|
rs141080271
|
0.00027
|
|
NM_014956.5(CEP164):c.553-11C>T
|
rs200692234
|
0.00026
|
|
NM_014956.5(CEP164):c.2356C>T (p.Arg786Trp)
|
rs139225491
|
0.00025
|
|
NM_014956.5(CEP164):c.3610-4A>G
|
rs111915712
|
0.00025
|
|
NM_014956.5(CEP164):c.3904C>T (p.Pro1302Ser)
|
rs201430651
|
0.00025
|
|
NM_014956.5(CEP164):c.1152+16C>T
|
rs375703035
|
0.00024
|
|
NM_014956.5(CEP164):c.2943G>C (p.Glu981Asp)
|
rs112958115
|
0.00024
|
|
NM_014956.5(CEP164):c.1502A>G (p.Gln501Arg)
|
rs375085754
|
0.00023
|
|
NM_014956.5(CEP164):c.2669G>A (p.Arg890His)
|
rs368178224
|
0.00023
|
|
NM_014956.5(CEP164):c.1042C>G (p.Pro348Ala)
|
rs147746626
|
0.00022
|
|
NM_014956.5(CEP164):c.3183C>A (p.Leu1061=)
|
rs144700973
|
0.00022
|
|
NM_014956.5(CEP164):c.1152A>G (p.Gln384=)
|
rs368171178
|
0.00021
|
|
NM_014956.5(CEP164):c.3042A>G (p.Gln1014=)
|
rs149350006
|
0.00019
|
|
NM_014956.5(CEP164):c.1316A>T (p.Gln439Leu)
|
rs143370558
|
0.00018
|
|
NM_014956.5(CEP164):c.315T>C (p.Thr105=)
|
rs147988387
|
0.00018
|
|
NM_014956.5(CEP164):c.338A>G (p.Lys113Arg)
|
rs77118839
|
0.00018
|
|
NM_014956.5(CEP164):c.687+15C>T
|
rs200387177
|
0.00018
|
|
NM_014956.5(CEP164):c.1245T>C (p.Phe415=)
|
rs555876739
|
0.00017
|
|
NM_014956.5(CEP164):c.2195C>T (p.Ser732Leu)
|
rs559070007
|
0.00017
|
|
NM_014956.5(CEP164):c.2255G>A (p.Arg752Lys)
|
rs753614257
|
0.00017
|
|
NM_014956.5(CEP164):c.2311A>G (p.Ser771Gly)
|
rs143601082
|
0.00017
|
|
NM_014956.5(CEP164):c.2920A>G (p.Thr974Ala)
|
rs56699807
|
0.00017
|
|
NM_014956.5(CEP164):c.4060G>A (p.Asp1354Asn)
|
rs200520898
|
0.00017
|
|
NM_014956.5(CEP164):c.696C>T (p.His232=)
|
rs201189268
|
0.00017
|
|
NM_014956.5(CEP164):c.3739C>T (p.Gln1247Ter)
|
rs140611214
|
0.00016
|
|
NM_014956.5(CEP164):c.3764G>T (p.Ser1255Ile)
|
rs147414766
|
0.00016
|
|
NM_014956.5(CEP164):c.4144C>T (p.Leu1382=)
|
rs142927104
|
0.00016
|
|
NM_014956.5(CEP164):c.2744G>A (p.Arg915His)
|
rs147802563
|
0.00014
|
|
NM_014956.5(CEP164):c.3912G>A (p.Arg1304=)
|
rs146634951
|
0.00014
|
|
NM_014956.5(CEP164):c.944A>G (p.Glu315Gly)
|
rs144767290
|
0.00014
|
|
NM_014956.5(CEP164):c.1507G>A (p.Glu503Lys)
|
rs763864742
|
0.00013
|
|
NM_014956.5(CEP164):c.828C>T (p.Ala276=)
|
rs201125321
|
0.00013
|
|
NM_014956.5(CEP164):c.1865G>A (p.Arg622Gln)
|
rs183392900
|
0.00012
|
|
NM_014956.5(CEP164):c.3392T>C (p.Leu1131Pro)
|
rs1317065002
|
0.00012
|
|
NM_014956.5(CEP164):c.1313G>A (p.Arg438Gln)
|
rs137987733
|
0.00011
|
|
NM_014956.5(CEP164):c.1320C>T (p.Ala440=)
|
rs145815710
|
0.00011
|
|
NM_014956.5(CEP164):c.1401G>A (p.Leu467=)
|
rs138093785
|
0.00011
|
|
NM_014956.5(CEP164):c.3278+11A>G
|
rs761420267
|
0.00011
|
|
NM_014956.5(CEP164):c.3279-20C>T
|
rs375870273
|
0.00011
|
|
NM_014956.5(CEP164):c.4130C>T (p.Pro1377Leu)
|
rs146456836
|
0.00011
|
|
NM_014956.5(CEP164):c.1934+3C>T
|
rs369584565
|
0.00010
|
|
NM_014956.5(CEP164):c.3484C>A (p.Arg1162Ser)
|
rs138487235
|
0.00010
|
|
NM_014956.5(CEP164):c.534G>A (p.Gln178=)
|
rs148498531
|
0.00010
|
|
NM_014956.5(CEP164):c.2704G>A (p.Val902Met)
|
rs144279354
|
0.00009
|
|
NM_014956.5(CEP164):c.3234_3236del (p.Ser1081del)
|
rs749738679
|
0.00009
|
|
NM_014956.5(CEP164):c.3748+17C>T
|
rs373984666
|
0.00009
|
|
NM_014956.5(CEP164):c.3910C>T (p.Arg1304Trp)
|
rs139444171
|
0.00009
|
|
NM_014956.5(CEP164):c.4025C>T (p.Pro1342Leu)
|
rs531161184
|
0.00009
|
|
NM_014956.5(CEP164):c.4330C>G (p.Leu1444Val)
|
rs143919649
|
0.00009
|
|
NM_014956.5(CEP164):c.4371G>A (p.Val1457=)
|
rs781453124
|
0.00009
|
|
NM_014956.5(CEP164):c.1009A>G (p.Ser337Gly)
|
rs151204404
|
0.00008
|
|
NM_014956.5(CEP164):c.1322A>G (p.Gln441Arg)
|
rs138536460
|
0.00008
|
|
NM_014956.5(CEP164):c.2858G>A (p.Arg953Gln)
|
rs184333345
|
0.00008
|
|
NM_014956.5(CEP164):c.3364C>T (p.Arg1122Cys)
|
rs149875085
|
0.00008
|
|
NM_014956.5(CEP164):c.4104C>T (p.Ile1368=)
|
rs371631049
|
0.00008
|
|
NM_014956.5(CEP164):c.457C>T (p.Leu153Phe)
|
rs375118998
|
0.00008
|
|
NM_014956.5(CEP164):c.2284-8C>G
|
rs761454104
|
0.00007
|
|
NM_014956.5(CEP164):c.2845-6T>G
|
rs201515694
|
0.00007
|
|
NM_014956.5(CEP164):c.2914-20A>G
|
rs201736952
|
0.00007
|
|
NM_014956.5(CEP164):c.3217-8G>A
|
rs374823549
|
0.00007
|
|
NM_014956.5(CEP164):c.3268T>C (p.Tyr1090His)
|
rs140470210
|
0.00007
|
|
NM_014956.5(CEP164):c.3736C>T (p.Arg1246Trp)
|
rs369446103
|
0.00007
|
|
NM_014956.5(CEP164):c.3749-15C>T
|
rs370837032
|
0.00007
|
|
NM_014956.5(CEP164):c.4053G>A (p.Thr1351=)
|
rs373842310
|
0.00007
|
|
NM_014956.5(CEP164):c.4091T>A (p.Phe1364Tyr)
|
rs143693029
|
0.00007
|
|
NM_014956.5(CEP164):c.1399C>T (p.Leu467=)
|
rs528252533
|
0.00006
|
|
NM_014956.5(CEP164):c.1717C>A (p.Pro573Thr)
|
rs779345917
|
0.00006
|
|
NM_014956.5(CEP164):c.1935-20G>A
|
rs200518210
|
0.00006
|
|
NM_014956.5(CEP164):c.203T>C (p.Ile68Thr)
|
rs747800943
|
0.00006
|
|
NM_014956.5(CEP164):c.2067-15A>G
|
rs767292266
|
0.00006
|
|
NM_014956.5(CEP164):c.2153A>T (p.Asn718Ile)
|
rs369322915
|
0.00006
|
|
NM_014956.5(CEP164):c.231C>T (p.Phe77=)
|
rs538937913
|
0.00006
|
|
NM_014956.5(CEP164):c.2870A>T (p.Gln957Leu)
|
rs757822725
|
0.00006
|
|
NM_014956.5(CEP164):c.3314C>T (p.Ala1105Val)
|
rs751866377
|
0.00006
|
|
NM_014956.5(CEP164):c.3867G>A (p.Ser1289=)
|
rs752083526
|
0.00006
|
|
NM_014956.5(CEP164):c.3869C>T (p.Pro1290Leu)
|
rs377394847
|
0.00006
|
|
NM_014956.5(CEP164):c.4106C>T (p.Pro1369Leu)
|
rs148116542
|
0.00006
|
|
NM_014956.5(CEP164):c.501G>A (p.Val167=)
|
rs770213078
|
0.00006
|
|
NM_014956.5(CEP164):c.552+8C>T
|
rs368573245
|
0.00006
|
|
NM_014956.5(CEP164):c.1410-12C>T
|
rs779681613
|
0.00005
|
|
NM_014956.5(CEP164):c.1574A>G (p.Gln525Arg)
|
rs778958469
|
0.00005
|
|
NM_014956.5(CEP164):c.1948C>T (p.Arg650Trp)
|
rs145755063
|
0.00005
|
|
NM_014956.5(CEP164):c.237C>T (p.Asn79=)
|
rs149281923
|
0.00005
|
|
NM_014956.5(CEP164):c.2921C>T (p.Thr974Ile)
|
rs150451678
|
0.00005
|
|
NM_014956.5(CEP164):c.2977T>G (p.Ser993Ala)
|
rs200571532
|
0.00005
|
|
NM_014956.5(CEP164):c.3188T>C (p.Ile1063Thr)
|
rs148477756
|
0.00005
|
|
NM_014956.5(CEP164):c.3538C>T (p.Arg1180Trp)
|
rs557730163
|
0.00005
|
|
NM_014956.5(CEP164):c.3883G>A (p.Ala1295Thr)
|
rs370793843
|
0.00005
|
|
NM_014956.5(CEP164):c.4148G>C (p.Gly1383Ala)
|
rs913817059
|
0.00005
|
|
NM_014956.5(CEP164):c.4355A>G (p.His1452Arg)
|
rs370039438
|
0.00005
|
|
NM_014956.5(CEP164):c.4375C>T (p.Arg1459Cys)
|
rs148650653
|
0.00005
|
|
NM_014956.5(CEP164):c.710C>A (p.Pro237His)
|
rs567606919
|
0.00005
|
|
NM_014956.5(CEP164):c.1158G>A (p.Leu386=)
|
rs199723361
|
0.00004
|
|
NM_014956.5(CEP164):c.1380G>A (p.Gln460=)
|
rs559473249
|
0.00004
|
|
NM_014956.5(CEP164):c.1431C>T (p.His477=)
|
rs539441637
|
0.00004
|
|
NM_014956.5(CEP164):c.1495G>A (p.Glu499Lys)
|
rs763039493
|
0.00004
|
|
NM_014956.5(CEP164):c.1506C>T (p.Pro502=)
|
rs369224299
|
0.00004
|
|
NM_014956.5(CEP164):c.150G>A (p.Ala50=)
|
rs367761983
|
0.00004
|
|
NM_014956.5(CEP164):c.1669dup (p.Glu557fs)
|
rs749114363
|
0.00004
|
|
NM_014956.5(CEP164):c.1703C>T (p.Thr568Ile)
|
rs752334538
|
0.00004
|
|
NM_014956.5(CEP164):c.1853T>C (p.Met618Thr)
|
rs142108558
|
0.00004
|
|
NM_014956.5(CEP164):c.1860A>T (p.Gln620His)
|
rs745707423
|
0.00004
|
|
NM_014956.5(CEP164):c.190C>G (p.Pro64Ala)
|
rs138449146
|
0.00004
|
|
NM_014956.5(CEP164):c.1982G>A (p.Arg661Gln)
|
rs781063589
|
0.00004
|
|
NM_014956.5(CEP164):c.2002C>A (p.Gln668Lys)
|
rs375310104
|
0.00004
|
|
NM_014956.5(CEP164):c.2066+4A>G
|
rs577854690
|
0.00004
|
|
NM_014956.5(CEP164):c.2086C>T (p.Leu696=)
|
rs934960506
|
0.00004
|
|
NM_014956.5(CEP164):c.2209C>T (p.Gln737Ter)
|
rs562932233
|
0.00004
|
|
NM_014956.5(CEP164):c.2340A>G (p.Ser780=)
|
rs908435695
|
0.00004
|
|
NM_014956.5(CEP164):c.2379G>A (p.Gln793=)
|
rs190692742
|
0.00004
|
|
NM_014956.5(CEP164):c.2494-9C>T
|
rs373873905
|
0.00004
|
|
NM_014956.5(CEP164):c.2517G>A (p.Lys839=)
|
rs760170526
|
0.00004
|
|
NM_014956.5(CEP164):c.2740C>T (p.Arg914Trp)
|
rs541217768
|
0.00004
|
|
NM_014956.5(CEP164):c.2853C>T (p.Thr951=)
|
rs140641176
|
0.00004
|
|
NM_014956.5(CEP164):c.2854G>A (p.Ala952Thr)
|
rs773981726
|
0.00004
|
|
NM_014956.5(CEP164):c.3012G>T (p.Leu1004=)
|
rs368609037
|
0.00004
|
|
NM_014956.5(CEP164):c.3055C>T (p.Gln1019Ter)
|
rs746453731
|
0.00004
|
|
NM_014956.5(CEP164):c.3279C>T (p.Ser1093=)
|
rs766038184
|
0.00004
|
|
NM_014956.5(CEP164):c.3415C>T (p.Arg1139Cys)
|
rs374437787
|
0.00004
|
|
NM_014956.5(CEP164):c.3786C>T (p.His1262=)
|
rs373372717
|
0.00004
|
|
NM_014956.5(CEP164):c.4096+15G>A
|
rs200690593
|
0.00004
|
|
NM_014956.5(CEP164):c.4265G>A (p.Arg1422His)
|
rs74653460
|
0.00004
|
|
NM_014956.5(CEP164):c.4287-11C>T
|
rs199682751
|
0.00004
|
|
NM_014956.5(CEP164):c.4323T>C (p.Thr1441=)
|
rs992995160
|
0.00004
|
|
NM_014956.5(CEP164):c.451C>T (p.Arg151Ter)
|
rs149195472
|
0.00004
|
|
NM_014956.5(CEP164):c.499G>A (p.Val167Met)
|
rs748619597
|
0.00004
|
|
NM_014956.5(CEP164):c.529C>T (p.Arg177Cys)
|
rs774763557
|
0.00004
|
|
NM_014956.5(CEP164):c.688-8del
|
rs1304697768
|
0.00004
|
|
NM_014956.5(CEP164):c.779C>A (p.Thr260Lys)
|
rs776372232
|
0.00004
|
|
NM_014956.5(CEP164):c.100C>T (p.Arg34Trp)
|
rs775902514
|
0.00003
|
|
NM_014956.5(CEP164):c.1203A>G (p.Ile401Met)
|
rs202080477
|
0.00003
|
|
NM_014956.5(CEP164):c.1233+9G>A
|
rs1042105817
|
0.00003
|
|
NM_014956.5(CEP164):c.1246C>T (p.Arg416Cys)
|
rs766713516
|
0.00003
|
|
NM_014956.5(CEP164):c.129A>G (p.Glu43=)
|
rs762888111
|
0.00003
|
|
NM_014956.5(CEP164):c.1598C>T (p.Pro533Leu)
|
rs761621131
|
0.00003
|
|
NM_014956.5(CEP164):c.2326C>T (p.Arg776Trp)
|
rs377437628
|
0.00003
|
|
NM_014956.5(CEP164):c.2583G>A (p.Val861=)
|
rs747640551
|
0.00003
|
|
NM_014956.5(CEP164):c.2630G>A (p.Arg877Gln)
|
rs756048473
|
0.00003
|
|
NM_014956.5(CEP164):c.2656G>A (p.Gly886Arg)
|
rs377597884
|
0.00003
|
|
NM_014956.5(CEP164):c.2746C>T (p.Arg916Trp)
|
rs1055666351
|
0.00003
|
|
NM_014956.5(CEP164):c.2760+10C>T
|
rs1441985433
|
0.00003
|
|
NM_014956.5(CEP164):c.3020G>A (p.Arg1007His)
|
rs372292887
|
0.00003
|
|
NM_014956.5(CEP164):c.3045G>A (p.Val1015=)
|
rs201873800
|
0.00003
|
|
NM_014956.5(CEP164):c.3278+16C>G
|
rs900461612
|
0.00003
|
|
NM_014956.5(CEP164):c.3278+5_3278+8del
|
rs929035130
|
0.00003
|
|
NM_014956.5(CEP164):c.3279-5T>C
|
rs768653923
|
0.00003
|
|
NM_014956.5(CEP164):c.3371T>C (p.Met1124Thr)
|
rs527615343
|
0.00003
|
|
NM_014956.5(CEP164):c.337A>G (p.Lys113Glu)
|
rs75301270
|
0.00003
|
|
NM_014956.5(CEP164):c.3501+7A>G
|
rs569367999
|
0.00003
|
|
NM_014956.5(CEP164):c.3586T>C (p.Leu1196=)
|
rs759744930
|
0.00003
|
|
NM_014956.5(CEP164):c.390G>A (p.Ser130=)
|
rs773045906
|
0.00003
|
|
NM_014956.5(CEP164):c.4097-9C>T
|
rs1362686273
|
0.00003
|
|
NM_014956.5(CEP164):c.4107G>A (p.Pro1369=)
|
rs774656364
|
0.00003
|
|
NM_014956.5(CEP164):c.4123C>G (p.Pro1375Ala)
|
rs757246851
|
0.00003
|
|
NM_014956.5(CEP164):c.625C>G (p.Leu209Val)
|
rs921440647
|
0.00003
|
|
NM_014956.5(CEP164):c.703A>G (p.Ser235Gly)
|
rs777527578
|
0.00003
|
|
NM_014956.5(CEP164):c.765+3A>T
|
rs1256710112
|
0.00003
|
|
NM_014956.5(CEP164):c.832C>T (p.Pro278Ser)
|
rs767609128
|
0.00003
|
|
NM_014956.5(CEP164):c.833C>G (p.Pro278Arg)
|
rs376214075
|
0.00003
|
|
NM_014956.5(CEP164):c.1001C>G (p.Pro334Arg)
|
rs2042173742
|
0.00002
|
|
NM_014956.5(CEP164):c.1191C>G (p.Leu397=)
|
rs763602671
|
0.00002
|
|
NM_014956.5(CEP164):c.1268T>C (p.Leu423Pro)
|
rs557486197
|
0.00002
|
|
NM_014956.5(CEP164):c.1336A>G (p.Ile446Val)
|
rs1213789533
|
0.00002
|
|
NM_014956.5(CEP164):c.1417C>T (p.Pro473Ser)
|
rs1481684034
|
0.00002
|
|
NM_014956.5(CEP164):c.1493C>T (p.Pro498Leu)
|
rs773140295
|
0.00002
|
|
NM_014956.5(CEP164):c.1569C>G (p.Ser523=)
|
rs747829353
|
0.00002
|
|
NM_014956.5(CEP164):c.1700C>T (p.Pro567Leu)
|
rs1470761164
|
0.00002
|
|
NM_014956.5(CEP164):c.1704C>T (p.Thr568=)
|
rs755780242
|
0.00002
|
|
NM_014956.5(CEP164):c.1726C>T (p.Arg576Ter)
|
rs145646425
|
0.00002
|
|
NM_014956.5(CEP164):c.2020C>T (p.Arg674Ter)
|
rs963142616
|
0.00002
|
|
NM_014956.5(CEP164):c.2196G>A (p.Ser732=)
|
rs139610925
|
0.00002
|
|
NM_014956.5(CEP164):c.2208G>A (p.Glu736=)
|
rs762963600
|
0.00002
|
|
NM_014956.5(CEP164):c.2283+14G>T
|
rs545525973
|
0.00002
|
|
NM_014956.5(CEP164):c.2362-14G>A
|
rs1035815151
|
0.00002
|
|
NM_014956.5(CEP164):c.2367C>G (p.Val789=)
|
rs747171653
|
0.00002
|
|
NM_014956.5(CEP164):c.2464T>G (p.Ser822Ala)
|
rs750842640
|
0.00002
|
|
NM_014956.5(CEP164):c.2494-3C>T
|
rs763312597
|
0.00002
|
|
NM_014956.5(CEP164):c.2541T>C (p.His847=)
|
rs947190507
|
0.00002
|
|
NM_014956.5(CEP164):c.2631G>A (p.Arg877=)
|
rs1339335729
|
0.00002
|
|
NM_014956.5(CEP164):c.2689C>T (p.Arg897Ter)
|
rs764893412
|
0.00002
|
|
NM_014956.5(CEP164):c.2726G>A (p.Arg909His)
|
rs530932318
|
0.00002
|
|
NM_014956.5(CEP164):c.2924C>T (p.Ala975Val)
|
rs778872289
|
0.00002
|
|
NM_014956.5(CEP164):c.3107C>T (p.Ala1036Val)
|
rs1264586687
|
0.00002
|
|
NM_014956.5(CEP164):c.3217-12A>G
|
rs779406287
|
0.00002
|
|
NM_014956.5(CEP164):c.3246C>T (p.Leu1082=)
|
rs201698235
|
0.00002
|
|
NM_014956.5(CEP164):c.3434C>T (p.Ala1145Val)
|
rs770370539
|
0.00002
|
|
NM_014956.5(CEP164):c.3482T>C (p.Met1161Thr)
|
rs375136293
|
0.00002
|
|
NM_014956.5(CEP164):c.3501+4A>G
|
rs1180692184
|
0.00002
|
|
NM_014956.5(CEP164):c.3519T>A (p.Asp1173Glu)
|
rs746686807
|
0.00002
|
|
NM_014956.5(CEP164):c.3609+3G>A
|
rs148009946
|
0.00002
|
|
NM_014956.5(CEP164):c.3663C>T (p.Phe1221=)
|
rs150819563
|
0.00002
|
|
NM_014956.5(CEP164):c.3882C>T (p.Leu1294=)
|
rs768274034
|
0.00002
|
|
NM_014956.5(CEP164):c.396C>T (p.Ala132=)
|
rs145551039
|
0.00002
|
|
NM_014956.5(CEP164):c.3989C>T (p.Thr1330Met)
|
rs774641136
|
0.00002
|
|
NM_014956.5(CEP164):c.4021G>C (p.Gly1341Arg)
|
rs781132728
|
0.00002
|
|
NM_014956.5(CEP164):c.4023G>A (p.Gly1341=)
|
rs748085058
|
0.00002
|
|
NM_014956.5(CEP164):c.4027A>G (p.Arg1343Gly)
|
rs748810265
|
0.00002
|
|
NM_014956.5(CEP164):c.4086G>A (p.Lys1362=)
|
rs200916484
|
0.00002
|
|
NM_014956.5(CEP164):c.4096+18C>T
|
rs533863973
|
0.00002
|
|
NM_014956.5(CEP164):c.491C>G (p.Ser164Cys)
|
rs149806421
|
0.00002
|
|
NM_014956.5(CEP164):c.510G>A (p.Gly170=)
|
rs145771994
|
0.00002
|
|
NM_014956.5(CEP164):c.552+9G>A
|
rs1278586123
|
0.00002
|
|
NM_014956.5(CEP164):c.714T>G (p.Leu238=)
|
rs745843938
|
0.00002
|
|
NM_014956.5(CEP164):c.762T>C (p.Tyr254=)
|
rs766308731
|
0.00002
|
|
NM_014956.5(CEP164):c.901C>T (p.Arg301Ter)
|
rs780849567
|
0.00002
|
|
NM_014956.5(CEP164):c.907G>A (p.Gly303Arg)
|
rs1281252703
|
0.00002
|
|
NM_014956.5(CEP164):c.1047G>A (p.Glu349=)
|
rs777528550
|
0.00001
|
|
NM_014956.5(CEP164):c.1071G>A (p.Glu357=)
|
rs1247651761
|
0.00001
|
|
NM_014956.5(CEP164):c.10C>T (p.Arg4Ter)
|
rs765277720
|
0.00001
|
|
NM_014956.5(CEP164):c.1104A>G (p.Pro368=)
|
rs2042179714
|
0.00001
|
|
NM_014956.5(CEP164):c.112A>G (p.Ile38Val)
|
rs978689124
|
0.00001
|
|
NM_014956.5(CEP164):c.1143C>T (p.Asp381=)
|
rs375647094
|
0.00001
|
|
NM_014956.5(CEP164):c.1144G>A (p.Ala382Thr)
|
rs780364658
|
0.00001
|
|
NM_014956.5(CEP164):c.1152+8A>T
|
rs1277594291
|
0.00001
|
|
NM_014956.5(CEP164):c.1153-18G>A
|
rs1490620046
|
0.00001
|
|
NM_014956.5(CEP164):c.1161_1163del (p.Glu387_Ile388delinsAsp)
|
rs1347609515
|
0.00001
|
|
NM_014956.5(CEP164):c.1226A>G (p.His409Arg)
|
rs747489061
|
0.00001
|
|
NM_014956.5(CEP164):c.1239C>T (p.Phe413=)
|
rs535461023
|
0.00001
|
|
NM_014956.5(CEP164):c.1252C>T (p.Arg418Trp)
|
rs575328059
|
0.00001
|
|
NM_014956.5(CEP164):c.1259C>T (p.Ser420Leu)
|
rs1324951273
|
0.00001
|
|
NM_014956.5(CEP164):c.1317+11G>A
|
rs370606132
|
0.00001
|
|
NM_014956.5(CEP164):c.1318-14C>T
|
rs1397653828
|
0.00001
|
|
NM_014956.5(CEP164):c.1326A>G (p.Gln442=)
|
rs1052978293
|
0.00001
|
|
NM_014956.5(CEP164):c.13C>A (p.Pro5Thr)
|
rs749869599
|
0.00001
|
|
NM_014956.5(CEP164):c.1409+17G>T
|
rs773833785
|
0.00001
|
|
NM_014956.5(CEP164):c.1409+6A>G
|
rs762497915
|
0.00001
|
|
NM_014956.5(CEP164):c.1410-11G>A
|
rs537713728
|
0.00001
|
|
NM_014956.5(CEP164):c.1413A>G (p.Leu471=)
|
rs1196721000
|
0.00001
|
|
NM_014956.5(CEP164):c.1439G>A (p.Arg480Gln)
|
rs573209223
|
0.00001
|
|
NM_014956.5(CEP164):c.1457G>A (p.Arg486His)
|
rs545471229
|
0.00001
|
|
NM_014956.5(CEP164):c.1479G>A (p.Glu493=)
|
rs778285049
|
0.00001
|
|
NM_014956.5(CEP164):c.1492C>A (p.Pro498Thr)
|
rs765811586
|
0.00001
|
|
NM_014956.5(CEP164):c.155A>C (p.Glu52Ala)
|
rs541149150
|
0.00001
|
|
NM_014956.5(CEP164):c.1577+17G>A
|
rs1382927463
|
0.00001
|
|
NM_014956.5(CEP164):c.1615G>A (p.Gly539Ser)
|
rs758286092
|
0.00001
|
|
NM_014956.5(CEP164):c.1628A>G (p.His543Arg)
|
rs780941204
|
0.00001
|
|
NM_014956.5(CEP164):c.1666G>A (p.Ala556Thr)
|
rs943322658
|
0.00001
|
|
NM_014956.5(CEP164):c.1716T>A (p.Ser572=)
|
rs2043508189
|
0.00001
|
|
NM_014956.5(CEP164):c.171A>G (p.Pro57=)
|
rs2038560708
|
0.00001
|
|
NM_014956.5(CEP164):c.1724+1G>A
|
rs1489883516
|
0.00001
|
|
NM_014956.5(CEP164):c.1725-3T>C
|
rs940650344
|
0.00001
|
|
NM_014956.5(CEP164):c.1727G>A (p.Arg576Gln)
|
rs757579833
|
0.00001
|
|
NM_014956.5(CEP164):c.1759C>T (p.Leu587Phe)
|
rs923498039
|
0.00001
|
|
NM_014956.5(CEP164):c.1765G>C (p.Glu589Gln)
|
rs143553347
|
0.00001
|
|
NM_014956.5(CEP164):c.1809C>T (p.Leu603=)
|
rs372777703
|
0.00001
|
|
NM_014956.5(CEP164):c.1810G>A (p.Glu604Lys)
|
rs187622644
|
0.00001
|
|
NM_014956.5(CEP164):c.1812G>T (p.Glu604Asp)
|
rs1222181370
|
0.00001
|
|
NM_014956.5(CEP164):c.1815A>G (p.Gln605=)
|
rs1592325888
|
0.00001
|
|
NM_014956.5(CEP164):c.1864C>T (p.Arg622Trp)
|
rs760666687
|
0.00001
|
|
NM_014956.5(CEP164):c.1904G>A (p.Arg635Gln)
|
rs763183525
|
0.00001
|
|
NM_014956.5(CEP164):c.1930C>T (p.Leu644Phe)
|
rs1445485693
|
0.00001
|
|
NM_014956.5(CEP164):c.1934+12C>T
|
rs952168733
|
0.00001
|
|
NM_014956.5(CEP164):c.194+15G>A
|
rs1423887740
|
0.00001
|
|
NM_014956.5(CEP164):c.194+19C>T
|
rs374708089
|
0.00001
|
|
NM_014956.5(CEP164):c.1981C>T (p.Arg661Trp)
|
rs201175046
|
0.00001
|
|
NM_014956.5(CEP164):c.2066+1G>A
|
rs1279037770
|
0.00001
|
|
NM_014956.5(CEP164):c.2084C>T (p.Ser695Phe)
|
rs749213655
|
0.00001
|
|
NM_014956.5(CEP164):c.20G>A (p.Arg7His)
|
rs1413886061
|
0.00001
|
|
NM_014956.5(CEP164):c.2118A>G (p.Gln706=)
|
rs771918921
|
0.00001
|
|
NM_014956.5(CEP164):c.2120A>T (p.Gln707Leu)
|
rs780538516
|
0.00001
|
|
NM_014956.5(CEP164):c.2198A>G (p.Glu733Gly)
|
rs746693932
|
0.00001
|
|
NM_014956.5(CEP164):c.2268A>G (p.Glu756=)
|
rs750395570
|
0.00001
|
|
NM_014956.5(CEP164):c.2284-18C>T
|
rs1423509328
|
0.00001
|
|
NM_014956.5(CEP164):c.2294C>T (p.Thr765Met)
|
rs140009020
|
0.00001
|
|
NM_014956.5(CEP164):c.2414C>T (p.Ala805Val)
|
rs555087707
|
0.00001
|
|
NM_014956.5(CEP164):c.2448C>T (p.His816=)
|
rs183208808
|
0.00001
|
|
NM_014956.5(CEP164):c.2469T>C (p.Tyr823=)
|
rs779997647
|
0.00001
|
|
NM_014956.5(CEP164):c.2473G>A (p.Val825Met)
|
rs373870559
|
0.00001
|
|
NM_014956.5(CEP164):c.2491G>A (p.Glu831Lys)
|
rs977065085
|
0.00001
|
|
NM_014956.5(CEP164):c.2493+16T>C
|
rs772114437
|
0.00001
|
|
NM_014956.5(CEP164):c.2493+1G>A
|
rs778819060
|
0.00001
|
|
NM_014956.5(CEP164):c.2509C>T (p.Arg837Ter)
|
rs774951398
|
0.00001
|
|
NM_014956.5(CEP164):c.2605T>C (p.Tyr869His)
|
rs774896440
|
0.00001
|
|
NM_014956.5(CEP164):c.2616+18C>T
|
rs754039492
|
0.00001
|
|
NM_014956.5(CEP164):c.2629C>T (p.Arg877Trp)
|
rs986338516
|
0.00001
|
|
NM_014956.5(CEP164):c.2654C>A (p.Thr885Asn)
|
rs753347841
|
0.00001
|
|
NM_014956.5(CEP164):c.2668C>T (p.Arg890Cys)
|
rs772514202
|
0.00001
|
|
NM_014956.5(CEP164):c.2736C>T (p.Asp912=)
|
rs368860298
|
0.00001
|
|
NM_014956.5(CEP164):c.2760+1G>T
|
rs1269878493
|
0.00001
|
|
NM_014956.5(CEP164):c.276T>C (p.Tyr92=)
|
rs373403222
|
0.00001
|
|
NM_014956.5(CEP164):c.2776G>C (p.Asp926His)
|
rs751259435
|
0.00001
|
|
NM_014956.5(CEP164):c.277C>T (p.Arg93Trp)
|
rs387907310
|
0.00001
|
|
NM_014956.5(CEP164):c.2784G>T (p.Glu928Asp)
|
rs143446218
|
0.00001
|
|
NM_014956.5(CEP164):c.2845-15T>C
|
rs757233980
|
0.00001
|
|
NM_014956.5(CEP164):c.2850G>A (p.Glu950=)
|
rs942030231
|
0.00001
|
|
NM_014956.5(CEP164):c.2866A>G (p.Lys956Glu)
|
rs1217613639
|
0.00001
|
|
NM_014956.5(CEP164):c.2884G>A (p.Val962Met)
|
rs750570669
|
0.00001
|
|
NM_014956.5(CEP164):c.2906A>G (p.Lys969Arg)
|
rs1416554475
|
0.00001
|
|
NM_014956.5(CEP164):c.2914-9T>G
|
rs201787792
|
0.00001
|
|
NM_014956.5(CEP164):c.3058G>A (p.Ala1020Thr)
|
rs1316999665
|
0.00001
|
|
NM_014956.5(CEP164):c.3089+6G>A
|
rs374896228
|
0.00001
|
|
NM_014956.5(CEP164):c.3093C>T (p.Ser1031=)
|
rs766181500
|
0.00001
|
|
NM_014956.5(CEP164):c.3133G>C (p.Glu1045Gln)
|
rs752093126
|
0.00001
|
|
NM_014956.5(CEP164):c.3147G>A (p.Glu1049=)
|
rs575735586
|
0.00001
|
|
NM_014956.5(CEP164):c.3159T>G (p.Ala1053=)
|
rs2045422912
|
0.00001
|
|
NM_014956.5(CEP164):c.3162C>T (p.Ser1054=)
|
rs777528751
|
0.00001
|
|
NM_014956.5(CEP164):c.3172G>C (p.Glu1058Gln)
|
rs748972612
|
0.00001
|
|
NM_014956.5(CEP164):c.3206C>T (p.Ser1069Phe)
|
rs142722515
|
0.00001
|
|
NM_014956.5(CEP164):c.3217-18T>C
|
rs1474346753
|
0.00001
|
|
NM_014956.5(CEP164):c.3234G>A (p.Val1078=)
|
rs929056136
|
0.00001
|
|
NM_014956.5(CEP164):c.3237T>G (p.Ser1079=)
|
rs780381724
|
0.00001
|
|
NM_014956.5(CEP164):c.3242C>T (p.Ser1081Phe)
|
rs201488532
|
0.00001
|
|
NM_014956.5(CEP164):c.3254G>A (p.Ser1085Asn)
|
rs562234273
|
0.00001
|
|
NM_014956.5(CEP164):c.3262G>A (p.Asp1088Asn)
|
rs760736423
|
0.00001
|
|
NM_014956.5(CEP164):c.3278+15C>A
|
rs2045507329
|
0.00001
|
|
NM_014956.5(CEP164):c.3279-12C>T
|
rs749577674
|
0.00001
|
|
NM_014956.5(CEP164):c.3304C>T (p.Leu1102Phe)
|
rs1307328675
|
0.00001
|
|
NM_014956.5(CEP164):c.3335G>A (p.Ser1112Asn)
|
rs1182752473
|
0.00001
|
|
NM_014956.5(CEP164):c.3380G>A (p.Arg1127Gln)
|
rs753895198
|
0.00001
|
|
NM_014956.5(CEP164):c.3402C>T (p.Ala1134=)
|
rs779234423
|
0.00001
|
|
NM_014956.5(CEP164):c.3464T>A (p.Ile1155Asn)
|
rs1341181625
|
0.00001
|
|
NM_014956.5(CEP164):c.3483G>A (p.Met1161Ile)
|
rs757309937
|
0.00001
|
|
NM_014956.5(CEP164):c.3485G>A (p.Arg1162His)
|
rs758759503
|
0.00001
|
|
NM_014956.5(CEP164):c.3494T>C (p.Leu1165Pro)
|
rs747917840
|
0.00001
|
|
NM_014956.5(CEP164):c.3505A>G (p.Thr1169Ala)
|
rs535589696
|
0.00001
|
|
NM_014956.5(CEP164):c.3531G>A (p.Ser1177=)
|
rs776927406
|
0.00001
|
|
NM_014956.5(CEP164):c.3546C>G (p.Gly1182=)
|
rs1412204537
|
0.00001
|
|
NM_014956.5(CEP164):c.3558G>A (p.Leu1186=)
|
rs1295395116
|
0.00001
|
|
NM_014956.5(CEP164):c.3646A>G (p.Lys1216Glu)
|
rs1431305580
|
0.00001
|
|
NM_014956.5(CEP164):c.3677T>C (p.Met1226Thr)
|
rs1190524819
|
0.00001
|
|
NM_014956.5(CEP164):c.3680A>G (p.Asp1227Gly)
|
rs765899402
|
0.00001
|
|
NM_014956.5(CEP164):c.3681C>T (p.Asp1227=)
|
rs371592315
|
0.00001
|
|
NM_014956.5(CEP164):c.3692G>A (p.Ser1231Asn)
|
rs950631722
|
0.00001
|
|
NM_014956.5(CEP164):c.3703G>C (p.Glu1235Gln)
|
rs1179932970
|
0.00001
|
|
NM_014956.5(CEP164):c.3737G>A (p.Arg1246Gln)
|
rs147208889
|
0.00001
|
|
NM_014956.5(CEP164):c.3741G>T (p.Gln1247His)
|
rs963921685
|
0.00001
|
|
NM_014956.5(CEP164):c.3749-4T>C
|
rs1198441378
|
0.00001
|
|
NM_014956.5(CEP164):c.3775C>T (p.Arg1259Cys)
|
rs780550729
|
0.00001
|
|
NM_014956.5(CEP164):c.3805C>T (p.Arg1269Trp)
|
rs142578192
|
0.00001
|
|
NM_014956.5(CEP164):c.386G>C (p.Ser129Thr)
|
rs919243922
|
0.00001
|
|
NM_014956.5(CEP164):c.3873G>A (p.Pro1291=)
|
rs777863291
|
0.00001
|
|
NM_014956.5(CEP164):c.3876G>A (p.Pro1292=)
|
rs1319957926
|
0.00001
|
|
NM_014956.5(CEP164):c.3888C>T (p.Ser1296=)
|
rs2047118133
|
0.00001
|
|
NM_014956.5(CEP164):c.389C>T (p.Ser130Leu)
|
rs1006672566
|
0.00001
|
|
NM_014956.5(CEP164):c.394-16G>A
|
rs367677064
|
0.00001
|
|
NM_014956.5(CEP164):c.394-18A>G
|
rs201463212
|
0.00001
|
|
NM_014956.5(CEP164):c.3944A>G (p.Tyr1315Cys)
|
rs1171979946
|
0.00001
|
|
NM_014956.5(CEP164):c.3955G>A (p.Ala1319Thr)
|
rs769207410
|
0.00001
|
|
NM_014956.5(CEP164):c.3993C>G (p.Ser1331=)
|
rs768029564
|
0.00001
|
|
NM_014956.5(CEP164):c.4036T>C (p.Ser1346Pro)
|
rs774024619
|
0.00001
|
|
NM_014956.5(CEP164):c.4081C>T (p.Arg1361Cys)
|
rs753906680
|
0.00001
|
|
NM_014956.5(CEP164):c.4085A>G (p.Lys1362Arg)
|
rs1338246093
|
0.00001
|
|
NM_014956.5(CEP164):c.4096T>G (p.Ser1366Ala)
|
rs1360828180
|
0.00001
|
|
NM_014956.5(CEP164):c.4103T>C (p.Ile1368Thr)
|
rs180911439
|
0.00001
|
|
NM_014956.5(CEP164):c.4163+13G>C
|
rs981960517
|
0.00001
|
|
NM_014956.5(CEP164):c.4164-12C>T
|
rs1003217826
|
0.00001
|
|
NM_014956.5(CEP164):c.4174C>T (p.Arg1392Trp)
|
rs769676851
|
0.00001
|
|
NM_014956.5(CEP164):c.4175G>A (p.Arg1392Gln)
|
rs772989312
|
0.00001
|
|
NM_014956.5(CEP164):c.4180C>T (p.Leu1394=)
|
rs895081745
|
0.00001
|
|
NM_014956.5(CEP164):c.418G>A (p.Val140Ile)
|
rs778310001
|
0.00001
|
|
NM_014956.5(CEP164):c.4211C>T (p.Ala1404Val)
|
rs191488031
|
0.00001
|
|
NM_014956.5(CEP164):c.422A>G (p.His141Arg)
|
rs200045306
|
0.00001
|
|
NM_014956.5(CEP164):c.4233C>A (p.Gly1411=)
|
rs779295738
|
0.00001
|
|
NM_014956.5(CEP164):c.4248C>T (p.Asn1416=)
|
rs1367798627
|
0.00001
|
|
NM_014956.5(CEP164):c.452G>A (p.Arg151Gln)
|
rs564746056
|
0.00001
|
|
NM_014956.5(CEP164):c.485G>T (p.Arg162Leu)
|
rs139763142
|
0.00001
|
|
NM_014956.5(CEP164):c.504C>T (p.Ser168=)
|
rs2041032743
|
0.00001
|
|
NM_014956.5(CEP164):c.50A>G (p.Asp17Gly)
|
rs140963454
|
0.00001
|
|
NM_014956.5(CEP164):c.530G>A (p.Arg177His)
|
rs199701600
|
0.00001
|
|
NM_014956.5(CEP164):c.552+16T>C
|
rs753063818
|
0.00001
|
|
NM_014956.5(CEP164):c.552+19G>A
|
rs756643754
|
0.00001
|
|
NM_014956.5(CEP164):c.591T>C (p.Gly197=)
|
rs1401888374
|
0.00001
|
|
NM_014956.5(CEP164):c.627C>T (p.Leu209=)
|
rs754357397
|
0.00001
|
|
NM_014956.5(CEP164):c.678T>G (p.Ser226Arg)
|
rs199924960
|
0.00001
|
|
NM_014956.5(CEP164):c.698G>A (p.Ser233Asn)
|
rs755237805
|
0.00001
|
|
NM_014956.5(CEP164):c.760T>C (p.Tyr254His)
|
rs750854769
|
0.00001
|
|
NM_014956.5(CEP164):c.854C>G (p.Ser285Cys)
|
rs764958657
|
0.00001
|
|
NM_014956.5(CEP164):c.900G>C (p.Gly300=)
|
rs754494197
|
0.00001
|
|
NM_014956.5(CEP164):c.902G>A (p.Arg301Gln)
|
rs769627423
|
0.00001
|
|
GRCh37/hg19 11q23.3(chr11:117278620-117284002)
|
|
|
|
NC_000011.9:g.(117206397_117209281)_(117222705_117232550)dup
|
|
|
|
NC_000011.9:g.(?_117209303)_(117222724_?)dup
|
|
|
|
NC_000011.9:g.(?_117209303)_(117234242_?)dup
|
|
|
|
NC_000011.9:g.(?_117232531)_(117233274_?)del
|
|
|
|
NC_000011.9:g.(?_117233107)_117234066del
|
|
|
|
NC_000011.9:g.(?_117253375)_(117257939_?)del
|
|
|
|
NC_000011.9:g.(?_117278705)_(117284975_?)del
|
|
|
|
NM_014956.5(CEP164):c.*95C>G
|
rs521099
|
|
|
NM_014956.5(CEP164):c.1003A>G (p.Thr335Ala)
|
rs2042173963
|
|
|
NM_014956.5(CEP164):c.100C>G (p.Arg34Gly)
|
rs775902514
|
|
|
NM_014956.5(CEP164):c.1017T>C (p.Pro339=)
|
|
|
|
NM_014956.5(CEP164):c.101G>A (p.Arg34Gln)
|
|
|
|
NM_014956.5(CEP164):c.101G>T (p.Arg34Leu)
|
rs760829793
|
|
|
NM_014956.5(CEP164):c.1033A>C (p.Lys345Gln)
|
|
|
|
NM_014956.5(CEP164):c.1035G>A (p.Lys345=)
|
|
|
|
NM_014956.5(CEP164):c.1052C>T (p.Thr351Ile)
|
|
|
|
NM_014956.5(CEP164):c.1054G>A (p.Val352Ile)
|
|
|
|
NM_014956.5(CEP164):c.1055_1057del (p.Val352del)
|
|
|
|
NM_014956.5(CEP164):c.1058A>G (p.Asp353Gly)
|
rs2135917595
|
|
|
NM_014956.5(CEP164):c.1067AGG[3] (p.Glu357dup)
|
rs2042177715
|
|
|
NM_014956.5(CEP164):c.1075T>C (p.Ser359Pro)
|
|
|
|
NM_014956.5(CEP164):c.1083_1084delinsAA (p.Glu362Lys)
|
rs2135917914
|
|
|
NM_014956.5(CEP164):c.1089G>T (p.Glu363Asp)
|
rs748917124
|
|
|
NM_014956.5(CEP164):c.1114G>A (p.Ala372Thr)
|
rs2042180668
|
|
|
NM_014956.5(CEP164):c.1116T>G (p.Ala372=)
|
rs2042180843
|
|
|
NM_014956.5(CEP164):c.1117T>C (p.Ser373Pro)
|
rs2042181037
|
|
|
NM_014956.5(CEP164):c.1123C>T (p.Leu375=)
|
|
|
|
NM_014956.5(CEP164):c.1132G>A (p.Gly378Ser)
|
|
|
|
NM_014956.5(CEP164):c.1136G>A (p.Ser379Asn)
|
rs374832717
|
|
|
NM_014956.5(CEP164):c.1137T>A (p.Ser379Arg)
|
rs550044351
|
|
|
NM_014956.5(CEP164):c.1152+15C>T
|
rs2135919720
|
|
|
NM_014956.5(CEP164):c.1152+18A>G
|
|
|
|
NM_014956.5(CEP164):c.1152+2dup
|
rs1592221277
|
|
|
NM_014956.5(CEP164):c.1153-10G>A
|
|
|
|
NM_014956.5(CEP164):c.1153-15G>A
|
|
|
|
NM_014956.5(CEP164):c.1153-15G>T
|
rs372749388
|
|
|
NM_014956.5(CEP164):c.1153-4C>T
|
|
|
|
NM_014956.5(CEP164):c.1153G>C (p.Glu385Gln)
|
|
|
|
NM_014956.5(CEP164):c.1155A>G (p.Glu385=)
|
rs1318886330
|
|
|
NM_014956.5(CEP164):c.1159G>A (p.Glu387Lys)
|
rs2135971658
|
|
|
NM_014956.5(CEP164):c.1164T>C (p.Ile388=)
|
|
|
|
NM_014956.5(CEP164):c.1176G>T (p.Met392Ile)
|
rs759452273
|
|
|
NM_014956.5(CEP164):c.1179_1180delinsCT (p.Lys393_Glu394delinsAsnTer)
|
|
|
|
NM_014956.5(CEP164):c.121A>G (p.Ile41Val)
|
|
|
|
NM_014956.5(CEP164):c.1229G>A (p.Gly410Asp)
|
rs1394172852
|
|
|
NM_014956.5(CEP164):c.1230C>T (p.Gly410=)
|
|
|
|
NM_014956.5(CEP164):c.1233+16G>A
|
|
|
|
NM_014956.5(CEP164):c.1233+18del
|
rs2135973306
|
|
|
NM_014956.5(CEP164):c.1233+19C>T
|
|
|
|
NM_014956.5(CEP164):c.1233+1G>A
|
|
|
|
NM_014956.5(CEP164):c.1233+7T>G
|
|
|
|
NM_014956.5(CEP164):c.1234-16T>C
|
|
|
|
NM_014956.5(CEP164):c.1234-2A>T
|
|
|
|
NM_014956.5(CEP164):c.1234G>A (p.Asp412Asn)
|
rs2042669971
|
|
|
NM_014956.5(CEP164):c.1240G>A (p.Gly414Ser)
|
rs2042670551
|
|
|
NM_014956.5(CEP164):c.1247G>A (p.Arg416His)
|
|
|
|
NM_014956.5(CEP164):c.1257C>T (p.Ile419=)
|
rs2136010416
|
|
|
NM_014956.5(CEP164):c.1257del (p.Ser420fs)
|
|
|
|
NM_014956.5(CEP164):c.1260G>A (p.Ser420=)
|
|
|
|
NM_014956.5(CEP164):c.1264_1265insTGGCTGG (p.His422fs)
|
rs2042674113
|
|
|
NM_014956.5(CEP164):c.1266C>G (p.His422Gln)
|
|
|
|
NM_014956.5(CEP164):c.1267C>T (p.Leu423=)
|
|
|
|
NM_014956.5(CEP164):c.1270C>T (p.Leu424=)
|
|
|
|
NM_014956.5(CEP164):c.1273G>T (p.Asp425Tyr)
|
|
|
|
NM_014956.5(CEP164):c.127G>C (p.Glu43Gln)
|
rs2038553739
|
|
|
NM_014956.5(CEP164):c.1283T>G (p.Val428Gly)
|
rs2136011109
|
|
|
NM_014956.5(CEP164):c.1289C>T (p.Ser430Phe)
|
rs2042677558
|
|
|
NM_014956.5(CEP164):c.1298del (p.Leu433fs)
|
|
|
|
NM_014956.5(CEP164):c.12A>G (p.Arg4=)
|
|
|
|
NM_014956.5(CEP164):c.1312C>T (p.Arg438Trp)
|
|
|
|
NM_014956.5(CEP164):c.1314G>A (p.Arg438=)
|
|
|
|
NM_014956.5(CEP164):c.1316A>C (p.Gln439Pro)
|
rs143370558
|
|
|
NM_014956.5(CEP164):c.1317+10T>G
|
|
|
|
NM_014956.5(CEP164):c.1317+15G>A
|
rs2136012033
|
|
|
NM_014956.5(CEP164):c.1317+16T>G
|
|
|
|
NM_014956.5(CEP164):c.1317+3G>A
|
rs886038607
|
|
|
NM_014956.5(CEP164):c.1318-13_1319del
|
|
|
|
NM_014956.5(CEP164):c.1318-9C>G
|
rs576006225
|
|
|
NM_014956.5(CEP164):c.1343A>G (p.Asp448Gly)
|
|
|
|
NM_014956.5(CEP164):c.1347G>A (p.Lys449=)
|
|
|
|
NM_014956.5(CEP164):c.1353C>T (p.Asp451=)
|
|
|
|
NM_014956.5(CEP164):c.1362C>T (p.Ser454=)
|
rs1163809267
|
|
|
NM_014956.5(CEP164):c.1370A>G (p.Asp457Gly)
|
rs2136117768
|
|
|
NM_014956.5(CEP164):c.1379A>G (p.Gln460Arg)
|
|
|
|
NM_014956.5(CEP164):c.1397G>C (p.Gly466Ala)
|
rs2136118190
|
|
|
NM_014956.5(CEP164):c.1402G>A (p.Glu468Lys)
|
rs2043218577
|
|
|
NM_014956.5(CEP164):c.1409+11T>A
|
|
|
|
NM_014956.5(CEP164):c.1409+15A>G
|
rs2136118708
|
|
|
NM_014956.5(CEP164):c.1409+2T>C
|
|
|
|
NM_014956.5(CEP164):c.1409+3A>T
|
|
|
|
NM_014956.5(CEP164):c.1410-11G>T
|
rs537713728
|
|
|
NM_014956.5(CEP164):c.1410-17C>T
|
|
|
|
NM_014956.5(CEP164):c.1410-20G>A
|
rs749252841
|
|
|
NM_014956.5(CEP164):c.1410G>A (p.Arg470=)
|
|
|
|
NM_014956.5(CEP164):c.1421C>T (p.Pro474Leu)
|
|
|
|
NM_014956.5(CEP164):c.1432G>A (p.Glu478Lys)
|
rs1565542472
|
|
|
NM_014956.5(CEP164):c.1444C>T (p.Gln482Ter)
|
rs2136139535
|
|
|
NM_014956.5(CEP164):c.1452C>T (p.Pro484=)
|
rs373736623
|
|
|
NM_014956.5(CEP164):c.1454C>G (p.Pro485Arg)
|
rs1277555628
|
|
|
NM_014956.5(CEP164):c.1454C>T (p.Pro485Leu)
|
|
|
|
NM_014956.5(CEP164):c.1466C>T (p.Ala489Val)
|
rs868163339
|
|
|
NM_014956.5(CEP164):c.1474G>A (p.Glu492Lys)
|
rs757278608
|
|
|
NM_014956.5(CEP164):c.1477G>C (p.Glu493Gln)
|
rs2136140136
|
|
|
NM_014956.5(CEP164):c.1480C>T (p.Pro494Ser)
|
rs114396665
|
|
|
NM_014956.5(CEP164):c.1480_1482delinsACC (p.Pro494Thr)
|
rs1565542877
|
|
|
NM_014956.5(CEP164):c.1481dup (p.Pro495fs)
|
rs752518735
|
|
|
NM_014956.5(CEP164):c.1482del (p.Gln496fs)
|
|
|
|
NM_014956.5(CEP164):c.1491C>T (p.Gly497=)
|
rs762218626
|
|
|
NM_014956.5(CEP164):c.1494C>T (p.Pro498=)
|
|
|
|
NM_014956.5(CEP164):c.1496A>G (p.Glu499Gly)
|
|
|
|
NM_014956.5(CEP164):c.1501C>T (p.Gln501Ter)
|
|
|
|
NM_014956.5(CEP164):c.1508A>T (p.Glu503Val)
|
rs1293561746
|
|
|
NM_014956.5(CEP164):c.151C>T (p.Arg51Ter)
|
|
|
|
NM_014956.5(CEP164):c.1528C>T (p.Leu510Phe)
|
|
|
|
NM_014956.5(CEP164):c.152G>A (p.Arg51Gln)
|
|
|
|
NM_014956.5(CEP164):c.1530T>C (p.Leu510=)
|
|
|
|
NM_014956.5(CEP164):c.1534dup (p.Glu512fs)
|
|
|
|
NM_014956.5(CEP164):c.154G>C (p.Glu52Gln)
|
|
|
|
NM_014956.5(CEP164):c.1552C>T (p.Leu518Phe)
|
rs2043350919
|
|
|
NM_014956.5(CEP164):c.1553T>C (p.Leu518Pro)
|
|
|
|
NM_014956.5(CEP164):c.1566G>C (p.Leu522=)
|
|
|
|
NM_014956.5(CEP164):c.1568C>A (p.Ser523Tyr)
|
rs997835172
|
|
|
NM_014956.5(CEP164):c.1568C>T (p.Ser523Phe)
|
rs997835172
|
|
|
NM_014956.5(CEP164):c.1573C>T (p.Gln525Ter)
|
rs387907311
|
|
|
NM_014956.5(CEP164):c.1577+13G>A
|
|
|
|
NM_014956.5(CEP164):c.1577+19A>T
|
|
|
|
NM_014956.5(CEP164):c.1577+20T>C
|
|
|
|
NM_014956.5(CEP164):c.1577+9G>A
|
rs953315440
|
|
|
NM_014956.5(CEP164):c.1578-17T>G
|
rs2136164009
|
|
|
NM_014956.5(CEP164):c.1578-4C>T
|
|
|
|
NM_014956.5(CEP164):c.1578-6A>C
|
|
|
|
NM_014956.5(CEP164):c.1589C>T (p.Pro530Leu)
|
|
|
|
NM_014956.5(CEP164):c.15C>T (p.Pro5=)
|
|
|
|
NM_014956.5(CEP164):c.1607G>A (p.Cys536Tyr)
|
rs112527080
|
|
|
NM_014956.5(CEP164):c.1608T>C (p.Cys536=)
|
rs750310170
|
|
|
NM_014956.5(CEP164):c.160A>T (p.Ile54Phe)
|
|
|
|
NM_014956.5(CEP164):c.1615G>C (p.Gly539Arg)
|
rs758286092
|
|
|
NM_014956.5(CEP164):c.1616G>C (p.Gly539Ala)
|
rs200464405
|
|
|
NM_014956.5(CEP164):c.162C>T (p.Ile54=)
|
|
|
|
NM_014956.5(CEP164):c.1637C>T (p.Ala546Val)
|
|
|
|
NM_014956.5(CEP164):c.1638C>G (p.Ala546=)
|
rs144199348
|
|
|
NM_014956.5(CEP164):c.1638C>T (p.Ala546=)
|
rs144199348
|
|
|
NM_014956.5(CEP164):c.1645C>T (p.Leu549=)
|
|
|
|
NM_014956.5(CEP164):c.1647G>A (p.Leu549=)
|
rs1248770335
|
|
|
NM_014956.5(CEP164):c.1657C>T (p.Gln553Ter)
|
|
|
|
NM_014956.5(CEP164):c.165G>C (p.Val55=)
|
|
|
|
NM_014956.5(CEP164):c.1662A>G (p.Glu554=)
|
|
|
|
NM_014956.5(CEP164):c.1667C>A (p.Ala556Glu)
|
rs1053615798
|
|
|
NM_014956.5(CEP164):c.1669G>A (p.Glu557Lys)
|
|
|
|
NM_014956.5(CEP164):c.1670A>C (p.Glu557Ala)
|
|
|
|
NM_014956.5(CEP164):c.1678GAG[1] (p.Glu561del)
|
rs771007283
|
|
|
NM_014956.5(CEP164):c.1707G>T (p.Pro569=)
|
|
|
|
NM_014956.5(CEP164):c.1713C>G (p.Val571=)
|
|
|
|
NM_014956.5(CEP164):c.1724+11G>T
|
|
|
|
NM_014956.5(CEP164):c.1724+15TG[2]
|
rs2136168451
|
|
|
NM_014956.5(CEP164):c.1724+18G>A
|
rs763203356
|
|
|
NM_014956.5(CEP164):c.1725-13C>T
|
|
|
|
NM_014956.5(CEP164):c.1725-4G>A
|
rs2136244171
|
|
|
NM_014956.5(CEP164):c.1727G>T (p.Arg576Leu)
|
rs757579833
|
|
|
NM_014956.5(CEP164):c.1733C>T (p.Thr578Ile)
|
|
|
|
NM_014956.5(CEP164):c.1736A>G (p.Glu579Gly)
|
rs2136244485
|
|
|
NM_014956.5(CEP164):c.1738C>A (p.Pro580Thr)
|
rs758890143
|
|
|
NM_014956.5(CEP164):c.1747C>G (p.Pro583Ala)
|
rs865780691
|
|
|
NM_014956.5(CEP164):c.1749C>G (p.Pro583=)
|
|
|
|
NM_014956.5(CEP164):c.1751C>A (p.Pro584Gln)
|
rs1565560519
|
|
|
NM_014956.5(CEP164):c.1766A>G (p.Glu589Gly)
|
rs2136244992
|
|
|
NM_014956.5(CEP164):c.1771G>A (p.Ala591Thr)
|
|
|
|
NM_014956.5(CEP164):c.1776A>G (p.Leu592=)
|
|
|
|
NM_014956.5(CEP164):c.1781C>G (p.Ala594Gly)
|
|
|
|
NM_014956.5(CEP164):c.1783A>G (p.Met595Val)
|
|
|
|
NM_014956.5(CEP164):c.1791G>T (p.Glu597Asp)
|
|
|
|
NM_014956.5(CEP164):c.1792G>T (p.Ala598Ser)
|
rs150956860
|
|
|
NM_014956.5(CEP164):c.1819C>T (p.Gln607Ter)
|
|
|
|
NM_014956.5(CEP164):c.1830G>C (p.Leu610=)
|
|
|
|
NM_014956.5(CEP164):c.1839C>T (p.Ser613=)
|
|
|
|
NM_014956.5(CEP164):c.183G>A (p.Glu61=)
|
rs745920052
|
|
|
NM_014956.5(CEP164):c.1857G>A (p.Gln619=)
|
|
|
|
NM_014956.5(CEP164):c.1863G>A (p.Leu621=)
|
rs775253337
|
|
|
NM_014956.5(CEP164):c.1884G>C (p.Glu628Asp)
|
|
|
|
NM_014956.5(CEP164):c.1903C>T (p.Arg635Trp)
|
|
|
|
NM_014956.5(CEP164):c.1909C>A (p.His637Asn)
|
rs2044090246
|
|
|
NM_014956.5(CEP164):c.1915C>A (p.Gln639Lys)
|
rs2044090670
|
|
|
NM_014956.5(CEP164):c.191C>T (p.Pro64Leu)
|
|
|
|
NM_014956.5(CEP164):c.1921G>T (p.Glu641Ter)
|
|
|
|
NM_014956.5(CEP164):c.1923G>T (p.Glu641Asp)
|
rs1435675301
|
|
|
NM_014956.5(CEP164):c.1928C>T (p.Ser643Phe)
|
rs2136247338
|
|
|
NM_014956.5(CEP164):c.192A>C (p.Pro64=)
|
|
|
|
NM_014956.5(CEP164):c.192A>G (p.Pro64=)
|
|
|
|
NM_014956.5(CEP164):c.1934+14C>T
|
rs2136247656
|
|
|
NM_014956.5(CEP164):c.1934+1G>A
|
rs951827564
|
|
|
NM_014956.5(CEP164):c.1934+8C>G
|
|
|
|
NM_014956.5(CEP164):c.1935-14C>T
|
rs2044543490
|
|
|
NM_014956.5(CEP164):c.1935-15del
|
|
|
|
NM_014956.5(CEP164):c.1935-8C>T
|
|
|
|
NM_014956.5(CEP164):c.194+10C>T
|
rs1468150420
|
|
|
NM_014956.5(CEP164):c.194+11A>G
|
|
|
|
NM_014956.5(CEP164):c.194+12G>A
|
rs749099996
|
|
|
NM_014956.5(CEP164):c.194+15G>T
|
rs1423887740
|
|
|
NM_014956.5(CEP164):c.194+16G>T
|
rs574862830
|
|
|
NM_014956.5(CEP164):c.194+19C>A
|
|
|
|
NM_014956.5(CEP164):c.194+20_194+25del
|
|
|
|
NM_014956.5(CEP164):c.194+2T>C
|
|
|
|
NM_014956.5(CEP164):c.194+9G>C
|
|
|
|
NM_014956.5(CEP164):c.1946del (p.Glu649fs)
|
rs886041567
|
|
|
NM_014956.5(CEP164):c.1947G>A (p.Glu649=)
|
|
|
|
NM_014956.5(CEP164):c.1949G>A (p.Arg650Gln)
|
|
|
|
NM_014956.5(CEP164):c.195-10C>A
|
|
|
|
NM_014956.5(CEP164):c.1950G>T (p.Arg650=)
|
rs753951348
|
|
|
NM_014956.5(CEP164):c.1966G>A (p.Glu656Lys)
|
rs746865666
|
|
|
NM_014956.5(CEP164):c.1967AGG[3] (p.Glu659del)
|
rs1393409770
|
|
|
NM_014956.5(CEP164):c.1980C>A (p.Ala660=)
|
|
|
|
NM_014956.5(CEP164):c.1983G>T (p.Arg661=)
|
|
|
|
NM_014956.5(CEP164):c.1990G>C (p.Glu664Gln)
|
|
|
|
NM_014956.5(CEP164):c.1991A>C (p.Glu664Ala)
|
|
|
|
NM_014956.5(CEP164):c.1996G>T (p.Glu666Ter)
|
rs2136318333
|
|
|
NM_014956.5(CEP164):c.1998A>G (p.Glu666=)
|
|
|
|
NM_014956.5(CEP164):c.2025T>C (p.Ala675=)
|
|
|
|
NM_014956.5(CEP164):c.2027A>C (p.Gln676Pro)
|
rs776074093
|
|
|
NM_014956.5(CEP164):c.2044C>T (p.Gln682Ter)
|
|
|
|
NM_014956.5(CEP164):c.2058C>A (p.Asp686Glu)
|
|
|
|
NM_014956.5(CEP164):c.2065A>G (p.Arg689Gly)
|
|
|
|
NM_014956.5(CEP164):c.2066+11_2066+12del
|
|
|
|
NM_014956.5(CEP164):c.2066+20T>C
|
rs2136319924
|
|
|
NM_014956.5(CEP164):c.2066+9G>A
|
rs374648188
|
|
|
NM_014956.5(CEP164):c.2067-16C>T
|
rs758674918
|
|
|
NM_014956.5(CEP164):c.2067-6A>G
|
|
|
|
NM_014956.5(CEP164):c.2085C>T (p.Ser695=)
|
|
|
|
NM_014956.5(CEP164):c.2089C>A (p.Gln697Lys)
|
rs1332049981
|
|
|
NM_014956.5(CEP164):c.2112G>C (p.Glu704Asp)
|
rs778301430
|
|
|
NM_014956.5(CEP164):c.2113T>A (p.Ser705Thr)
|
rs2136323032
|
|
|
NM_014956.5(CEP164):c.2126C>T (p.Ala709Val)
|
rs2136323172
|
|
|
NM_014956.5(CEP164):c.212A>T (p.Asp71Val)
|
rs2135443083
|
|
|
NM_014956.5(CEP164):c.2133G>A (p.Arg711=)
|
|
|
|
NM_014956.5(CEP164):c.214A>G (p.Ile72Val)
|
|
|
|
NM_014956.5(CEP164):c.2165T>C (p.Leu722Pro)
|
|
|
|
NM_014956.5(CEP164):c.2169G>A (p.Glu723=)
|
|
|
|
NM_014956.5(CEP164):c.2184G>A (p.Glu728=)
|
|
|
|
NM_014956.5(CEP164):c.2186T>G (p.Ile729Arg)
|
|
|
|
NM_014956.5(CEP164):c.2188G>A (p.Glu730Lys)
|
rs2136324049
|
|
|
NM_014956.5(CEP164):c.2199G>A (p.Glu733=)
|
rs2136324303
|
|
|
NM_014956.5(CEP164):c.2201A>C (p.Lys734Thr)
|
|
|
|
NM_014956.5(CEP164):c.2229A>G (p.Ala743=)
|
|
|
|
NM_014956.5(CEP164):c.2233_2235del (p.Glu745del)
|
|
|
|
NM_014956.5(CEP164):c.2233del (p.Glu745fs)
|
rs1592354614
|
|
|
NM_014956.5(CEP164):c.2238G>A (p.Lys746=)
|
|
|
|
NM_014956.5(CEP164):c.2242C>G (p.Leu748Val)
|
rs763926600
|
|
|
NM_014956.5(CEP164):c.2259G>A (p.Glu753=)
|
rs761803143
|
|
|
NM_014956.5(CEP164):c.2269G>A (p.Gly757Arg)
|
rs757911593
|
|
|
NM_014956.5(CEP164):c.2272G>A (p.Glu758Lys)
|
|
|
|
NM_014956.5(CEP164):c.2280A>G (p.Lys760=)
|
|
|
|
NM_014956.5(CEP164):c.2283+1G>C
|
|
|
|
NM_014956.5(CEP164):c.2283+2T>C
|
rs1459158279
|
|
|
NM_014956.5(CEP164):c.2284-16C>T
|
|
|
|
NM_014956.5(CEP164):c.2284-1G>A
|
rs1391874809
|
|
|
NM_014956.5(CEP164):c.2284-6C>T
|
|
|
|
NM_014956.5(CEP164):c.2290G>A (p.Ala764Thr)
|
|
|
|
NM_014956.5(CEP164):c.2292A>C (p.Ala764=)
|
|
|
|
NM_014956.5(CEP164):c.2295G>A (p.Thr765=)
|
|
|
|
NM_014956.5(CEP164):c.2295G>T (p.Thr765=)
|
|
|
|
NM_014956.5(CEP164):c.2303A>G (p.Lys768Arg)
|
|
|
|
NM_014956.5(CEP164):c.2312G>C (p.Ser771Thr)
|
rs1565578311
|
|
|
NM_014956.5(CEP164):c.2320C>T (p.Leu774=)
|
|
|
|
NM_014956.5(CEP164):c.2327G>C (p.Arg776Pro)
|
|
|
|
NM_014956.5(CEP164):c.232G>A (p.Ala78Thr)
|
|
|
|
NM_014956.5(CEP164):c.2336C>A (p.Ser779Tyr)
|
|
|
|
NM_014956.5(CEP164):c.233C>G (p.Ala78Gly)
|
rs2039670463
|
|
|
NM_014956.5(CEP164):c.2341T>C (p.Leu781=)
|
|
|
|
NM_014956.5(CEP164):c.2357G>A (p.Arg786Gln)
|
|
|
|
NM_014956.5(CEP164):c.2358G>A (p.Arg786=)
|
rs2136351691
|
|
|
NM_014956.5(CEP164):c.2359G>A (p.Glu787Lys)
|
|
|
|
NM_014956.5(CEP164):c.2361+12C>T
|
|
|
|
NM_014956.5(CEP164):c.2361+15C>T
|
rs775505362
|
|
|
NM_014956.5(CEP164):c.2361+16C>T
|
rs2044762724
|
|
|
NM_014956.5(CEP164):c.2361+1G>A
|
|
|
|
NM_014956.5(CEP164):c.2362-10dup
|
rs1565579377
|
|
|
NM_014956.5(CEP164):c.2362-1G>T
|
|
|
|
NM_014956.5(CEP164):c.2362-5_2362-3del
|
|
|
|
NM_014956.5(CEP164):c.2362-8C>T
|
|
|
|
NM_014956.5(CEP164):c.2362G>A (p.Val788Met)
|
rs2044795731
|
|
|
NM_014956.5(CEP164):c.2367C>T (p.Val789=)
|
rs747171653
|
|
|
NM_014956.5(CEP164):c.2376C>T (p.Leu792=)
|
rs2044797581
|
|
|
NM_014956.5(CEP164):c.2418G>A (p.Gln806=)
|
rs759540777
|
|
|
NM_014956.5(CEP164):c.241C>T (p.Gln81Ter)
|
|
|
|
NM_014956.5(CEP164):c.2427G>A (p.Lys809=)
|
rs201002987
|
|
|
NM_014956.5(CEP164):c.2431C>T (p.Leu811Phe)
|
|
|
|
NM_014956.5(CEP164):c.2451A>C (p.Arg817Ser)
|
|
|
|
NM_014956.5(CEP164):c.2466T>C (p.Ser822=)
|
rs563608251
|
|
|
NM_014956.5(CEP164):c.2466T>G (p.Ser822=)
|
rs563608251
|
|
|
NM_014956.5(CEP164):c.2472C>A (p.His824Gln)
|
|
|
|
NM_014956.5(CEP164):c.2478T>G (p.Ala826=)
|
rs2136360090
|
|
|
NM_014956.5(CEP164):c.2481del (p.Tyr828fs)
|
|
|
|
NM_014956.5(CEP164):c.2490C>G (p.His830Gln)
|
rs532278621
|
|
|
NM_014956.5(CEP164):c.2490C>T (p.His830=)
|
|
|
|
NM_014956.5(CEP164):c.2492A>G (p.Glu831Gly)
|
|
|
|
NM_014956.5(CEP164):c.2493+8C>T
|
|
|
|
NM_014956.5(CEP164):c.2494-104T>G
|
rs512520
|
|
|
NM_014956.5(CEP164):c.2501G>C (p.Ser834Thr)
|
|
|
|
NM_014956.5(CEP164):c.2505C>T (p.Leu835=)
|
rs1368347260
|
|
|
NM_014956.5(CEP164):c.2506C>T (p.Leu836=)
|
rs2044887722
|
|
|
NM_014956.5(CEP164):c.2509C>A (p.Arg837=)
|
|
|
|
NM_014956.5(CEP164):c.2510G>A (p.Arg837Gln)
|
|
|
|
NM_014956.5(CEP164):c.2514G>C (p.Glu838Asp)
|
rs1395693893
|
|
|
NM_014956.5(CEP164):c.2518C>A (p.Arg840Ser)
|
|
|
|
NM_014956.5(CEP164):c.2518C>T (p.Arg840Cys)
|
|
|
|
NM_014956.5(CEP164):c.2519G>A (p.Arg840His)
|
rs201901144
|
|
|
NM_014956.5(CEP164):c.2519G>T (p.Arg840Leu)
|
rs201901144
|
|
|
NM_014956.5(CEP164):c.2526A>G (p.Glu842=)
|
rs1592370762
|
|
|
NM_014956.5(CEP164):c.2527G>A (p.Val843Met)
|
rs566117718
|
|
|
NM_014956.5(CEP164):c.2529G>T (p.Val843=)
|
|
|
|
NM_014956.5(CEP164):c.2530G>A (p.Glu844Lys)
|
|
|
|
NM_014956.5(CEP164):c.2534_2535delinsAA (p.Gly845Glu)
|
|
|
|
NM_014956.5(CEP164):c.2535_2536dup (p.Glu846fs)
|
|
|
|
NM_014956.5(CEP164):c.2561T>C (p.Met854Thr)
|
|
|
|
NM_014956.5(CEP164):c.2562del (p.Met854fs)
|
rs1565582604
|
|
|
NM_014956.5(CEP164):c.2574C>A (p.His858Gln)
|
|
|
|
NM_014956.5(CEP164):c.2585T>C (p.Met862Thr)
|
rs371143032
|
|
|
NM_014956.5(CEP164):c.2601G>A (p.Glu867=)
|
|
|
|
NM_014956.5(CEP164):c.2607T>C (p.Tyr869=)
|
|
|
|
NM_014956.5(CEP164):c.2608G>T (p.Glu870Ter)
|
|
|
|
NM_014956.5(CEP164):c.2609A>C (p.Glu870Ala)
|
|
|
|
NM_014956.5(CEP164):c.2613T>C (p.Ala871=)
|
rs768196435
|
|
|
NM_014956.5(CEP164):c.2616+11C>G
|
|
|
|
NM_014956.5(CEP164):c.2616+11C>T
|
|
|
|
NM_014956.5(CEP164):c.2616+12A>G
|
|
|
|
NM_014956.5(CEP164):c.2616+16C>A
|
|
|
|
NM_014956.5(CEP164):c.2616+1G>A
|
rs2136378484
|
|
|
NM_014956.5(CEP164):c.2616+5C>G
|
rs2136378582
|
|
|
NM_014956.5(CEP164):c.2617-17G>A
|
|
|
|
NM_014956.5(CEP164):c.2617-17G>T
|
|
|
|
NM_014956.5(CEP164):c.2618A>T (p.Glu873Val)
|
rs2045131646
|
|
|
NM_014956.5(CEP164):c.2620A>C (p.Arg874=)
|
|
|
|
NM_014956.5(CEP164):c.2625G>A (p.Lys875=)
|
rs953747200
|
|
|
NM_014956.5(CEP164):c.2627A>G (p.Gln876Arg)
|
rs752659513
|
|
|
NM_014956.5(CEP164):c.262T>C (p.Cys88Arg)
|
rs1057521785
|
|
|
NM_014956.5(CEP164):c.2637G>C (p.Glu879Asp)
|
|
|
|
NM_014956.5(CEP164):c.2644G>C (p.Gly882Arg)
|
|
|
|
NM_014956.5(CEP164):c.2648A>C (p.His883Pro)
|
|
|
|
NM_014956.5(CEP164):c.2651T>C (p.Leu884Pro)
|
|
|
|
NM_014956.5(CEP164):c.2651T>G (p.Leu884Arg)
|
|
|
|
NM_014956.5(CEP164):c.2656G>T (p.Gly886Ter)
|
rs377597884
|
|
|
NM_014956.5(CEP164):c.266dup (p.Asp89fs)
|
rs1565454034
|
|
|
NM_014956.5(CEP164):c.2671C>T (p.Leu891=)
|
|
|
|
NM_014956.5(CEP164):c.2678G>C (p.Arg893Thr)
|
|
|
|
NM_014956.5(CEP164):c.267C>T (p.Asp89=)
|
|
|
|
NM_014956.5(CEP164):c.2683C>T (p.His895Tyr)
|
|
|
|
NM_014956.5(CEP164):c.2684A>G (p.His895Arg)
|
|
|
|
NM_014956.5(CEP164):c.2685T>C (p.His895=)
|
rs2136419237
|
|
|
NM_014956.5(CEP164):c.2688_2691del (p.Arg897fs)
|
rs1317765862
|
|
|
NM_014956.5(CEP164):c.268G>C (p.Glu90Gln)
|
|
|
|
NM_014956.5(CEP164):c.2690G>A (p.Arg897Gln)
|
rs1387200155
|
|
|
NM_014956.5(CEP164):c.2697G>A (p.Leu899=)
|
|
|
|
NM_014956.5(CEP164):c.2708G>A (p.Arg903Lys)
|
|
|
|
NM_014956.5(CEP164):c.2721C>G (p.His907Gln)
|
|
|
|
NM_014956.5(CEP164):c.2724G>A (p.Lys908=)
|
|
|
|
NM_014956.5(CEP164):c.272A>G (p.His91Arg)
|
rs2039675348
|
|
|
NM_014956.5(CEP164):c.2731G>C (p.Glu911Gln)
|
|
|
|
NM_014956.5(CEP164):c.2740C>G (p.Arg914Gly)
|
rs541217768
|
|
|
NM_014956.5(CEP164):c.2741G>T (p.Arg914Leu)
|
rs550799764
|
|
|
NM_014956.5(CEP164):c.2746C>A (p.Arg916=)
|
rs1055666351
|
|
|
NM_014956.5(CEP164):c.2747G>A (p.Arg916Gln)
|
|
|
|
NM_014956.5(CEP164):c.2747G>C (p.Arg916Pro)
|
rs748681315
|
|
|
NM_014956.5(CEP164):c.2754G>A (p.Arg918=)
|
|
|
|
NM_014956.5(CEP164):c.275A>G (p.Tyr92Cys)
|
|
|
|
NM_014956.5(CEP164):c.2760+13G>A
|
|
|
|
NM_014956.5(CEP164):c.2760+18G>T
|
|
|
|
NM_014956.5(CEP164):c.2760+19G>C
|
|
|
|
NM_014956.5(CEP164):c.2761-12C>G
|
|
|
|
NM_014956.5(CEP164):c.2761G>A (p.Glu921Lys)
|
|
|
|
NM_014956.5(CEP164):c.2769G>A (p.Lys923=)
|
rs758053625
|
|
|
NM_014956.5(CEP164):c.2769G>C (p.Lys923Asn)
|
|
|
|
NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter)
|
rs373403222
|
|
|
NM_014956.5(CEP164):c.2774A>G (p.Gln925Arg)
|
|
|
|
NM_014956.5(CEP164):c.2781A>G (p.Leu927=)
|
|
|
|
NM_014956.5(CEP164):c.2787G>C (p.Leu929Phe)
|
|
|
|
NM_014956.5(CEP164):c.278G>A (p.Arg93Gln)
|
|
|
|
NM_014956.5(CEP164):c.2793T>G (p.Leu931=)
|
|
|
|
NM_014956.5(CEP164):c.2801G>A (p.Arg934Lys)
|
|
|
|
NM_014956.5(CEP164):c.2812G>C (p.Val938Leu)
|
rs958659489
|
|
|
NM_014956.5(CEP164):c.2813T>G (p.Val938Gly)
|
rs374045323
|
|
|
NM_014956.5(CEP164):c.2822G>C (p.Arg941Thr)
|
rs749310077
|
|
|
NM_014956.5(CEP164):c.282C>T (p.Ser94=)
|
|
|
|
NM_014956.5(CEP164):c.2834_2844+13dup
|
rs765251449
|
|
|
NM_014956.5(CEP164):c.2836G>T (p.Glu946Ter)
|
|
|
|
NM_014956.5(CEP164):c.2844+13C>T
|
|
|
|
NM_014956.5(CEP164):c.2844+20C>T
|
|
|
|
NM_014956.5(CEP164):c.2844+5G>C
|
rs2136434803
|
|
|
NM_014956.5(CEP164):c.2845-9C>G
|
|
|
|
NM_014956.5(CEP164):c.2845-9C>T
|
|
|
|
NM_014956.5(CEP164):c.2857C>T (p.Arg953Trp)
|
rs767099855
|
|
|
NM_014956.5(CEP164):c.2863G>T (p.Glu955Ter)
|
|
|
|
NM_014956.5(CEP164):c.2884_2885delinsAA (p.Val962Lys)
|
|
|
|
NM_014956.5(CEP164):c.2885T>G (p.Val962Gly)
|
rs2045276386
|
|
|
NM_014956.5(CEP164):c.2889G>C (p.Gln963His)
|
|
|
|
NM_014956.5(CEP164):c.2889G>T (p.Gln963His)
|
rs2045277340
|
|
|
NM_014956.5(CEP164):c.2890_2895dup (p.Arg964_Gln965dup)
|
rs2045276879
|
|
|
NM_014956.5(CEP164):c.28G>C (p.Asp10His)
|
rs2135058109
|
|
|
NM_014956.5(CEP164):c.2913+10C>T
|
rs1221685717
|
|
|
NM_014956.5(CEP164):c.2913+20C>T
|
|
|
|
NM_014956.5(CEP164):c.2913+4T>G
|
|
|
|
NM_014956.5(CEP164):c.2913G>A (p.Glu971=)
|
rs2136439892
|
|
|
NM_014956.5(CEP164):c.2914-13C>T
|
rs370773217
|
|
|
NM_014956.5(CEP164):c.2914-1G>C
|
|
|
|
NM_014956.5(CEP164):c.2914-5C>T
|
rs2136450157
|
|
|
NM_014956.5(CEP164):c.2914-6C>T
|
|
|
|
NM_014956.5(CEP164):c.2924C>A (p.Ala975Asp)
|
|
|
|
NM_014956.5(CEP164):c.2937G>A (p.Gln979=)
|
rs2136450553
|
|
|
NM_014956.5(CEP164):c.2942_2943del (p.Glu981fs)
|
rs2136450623
|
|
|
NM_014956.5(CEP164):c.2946G>A (p.Glu982=)
|
|
|
|
NM_014956.5(CEP164):c.2947G>A (p.Ala983Thr)
|
rs1251181865
|
|
|
NM_014956.5(CEP164):c.2965C>A (p.His989Asn)
|
rs2045329063
|
|
|
NM_014956.5(CEP164):c.2970G>A (p.Leu990=)
|
|
|
|
NM_014956.5(CEP164):c.2971T>C (p.Leu991=)
|
|
|
|
NM_014956.5(CEP164):c.2985G>A (p.Gln995=)
|
|
|
|
NM_014956.5(CEP164):c.2987A>G (p.Gln996Arg)
|
|
|
|
NM_014956.5(CEP164):c.2988G>T (p.Gln996His)
|
rs1565593444
|
|
|
NM_014956.5(CEP164):c.2991C>G (p.Leu997=)
|
|
|
|
NM_014956.5(CEP164):c.2991C>T (p.Leu997=)
|
rs765549940
|
|
|
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)
|
rs1323529877
|
|
|
NM_014956.5(CEP164):c.2993G>A (p.Arg998Gln)
|
|
|
|
NM_014956.5(CEP164):c.2993G>C (p.Arg998Pro)
|
|
|
|
NM_014956.5(CEP164):c.2998del (p.Ile1000fs)
|
|
|
|
NM_014956.5(CEP164):c.3005A>T (p.Asp1002Val)
|
rs2136452126
|
|
|
NM_014956.5(CEP164):c.3007G>C (p.Glu1003Gln)
|
|
|
|
NM_014956.5(CEP164):c.3019C>G (p.Arg1007Gly)
|
rs115387935
|
|
|
NM_014956.5(CEP164):c.3021C>T (p.Arg1007=)
|
|
|
|
NM_014956.5(CEP164):c.3032T>A (p.Leu1011Gln)
|
rs138868323
|
|
|
NM_014956.5(CEP164):c.3039C>G (p.Ser1013=)
|
rs778620459
|
|
|
NM_014956.5(CEP164):c.3039_3040dup (p.Gln1014fs)
|
|
|
|
NM_014956.5(CEP164):c.3050T>G (p.Leu1017Arg)
|
|
|
|
NM_014956.5(CEP164):c.3057G>C (p.Gln1019His)
|
|
|
|
NM_014956.5(CEP164):c.3069G>T (p.Gln1023His)
|
rs1281977880
|
|
|
NM_014956.5(CEP164):c.3070C>G (p.Gln1024Glu)
|
|
|
|
NM_014956.5(CEP164):c.3087C>G (p.Phe1029Leu)
|
rs2045343660
|
|
|
NM_014956.5(CEP164):c.3089+11C>A
|
rs773782390
|
|
|
NM_014956.5(CEP164):c.3089+16T>C
|
|
|
|
NM_014956.5(CEP164):c.3089+19A>C
|
|
|
|
NM_014956.5(CEP164):c.3089+5C>T
|
|
|
|
NM_014956.5(CEP164):c.3089G>C (p.Ser1030Thr)
|
rs2045343883
|
|
|
NM_014956.5(CEP164):c.3090-10C>G
|
|
|
|
NM_014956.5(CEP164):c.3090-48C>G
|
rs693181
|
|
|
NM_014956.5(CEP164):c.3096G>A (p.Leu1032=)
|
|
|
|
NM_014956.5(CEP164):c.3103G>A (p.Glu1035Lys)
|
|
|
|
NM_014956.5(CEP164):c.3109C>T (p.Gln1037Ter)
|
rs2136466034
|
|
|
NM_014956.5(CEP164):c.3111A>G (p.Gln1037=)
|
|
|
|
NM_014956.5(CEP164):c.3124C>G (p.Leu1042Val)
|
|
|
|
NM_014956.5(CEP164):c.3126G>A (p.Leu1042=)
|
|
|
|
NM_014956.5(CEP164):c.3144T>A (p.Val1048=)
|
rs886038608
|
|
|
NM_014956.5(CEP164):c.314C>T (p.Thr105Ile)
|
|
|
|
NM_014956.5(CEP164):c.3153T>G (p.Asn1051Lys)
|
rs2045422580
|
|
|
NM_014956.5(CEP164):c.3163C>T (p.Pro1055Ser)
|
rs2136466815
|
|
|
NM_014956.5(CEP164):c.3181C>T (p.Leu1061Phe)
|
rs2136467124
|
|
|
NM_014956.5(CEP164):c.3184C>T (p.His1062Tyr)
|
rs2136467201
|
|
|
NM_014956.5(CEP164):c.3193del (p.Asp1065fs)
|
|
|
|
NM_014956.5(CEP164):c.3216+10G>C
|
rs768750499
|
|
|
NM_014956.5(CEP164):c.3216+1del
|
|
|
|
NM_014956.5(CEP164):c.3216+20_3216+33del
|
rs200103555
|
|
|
NM_014956.5(CEP164):c.3217-19T>C
|
|
|
|
NM_014956.5(CEP164):c.3217-20T>A
|
|
|
|
NM_014956.5(CEP164):c.3236C>G (p.Ser1079Cys)
|
rs2136482246
|
|
|
NM_014956.5(CEP164):c.3239C>G (p.Ser1080Cys)
|
|
|
|
NM_014956.5(CEP164):c.3259G>C (p.Glu1087Gln)
|
rs911561261
|
|
|
NM_014956.5(CEP164):c.3270C>T (p.Tyr1090=)
|
|
|
|
NM_014956.5(CEP164):c.3278+12T>C
|
rs2136483935
|
|
|
NM_014956.5(CEP164):c.3278+5G>A
|
rs1382315277
|
|
|
NM_014956.5(CEP164):c.3279-12C>A
|
|
|
|
NM_014956.5(CEP164):c.3279-7G>T
|
|
|
|
NM_014956.5(CEP164):c.3279-8T>C
|
rs771735947
|
|
|
NM_014956.5(CEP164):c.3279-8_3279-3del
|
rs2136498231
|
|
|
NM_014956.5(CEP164):c.3285C>T (p.Ser1095=)
|
|
|
|
NM_014956.5(CEP164):c.3289C>T (p.His1097Tyr)
|
rs764825500
|
|
|
NM_014956.5(CEP164):c.3294T>C (p.Asn1098=)
|
|
|
|
NM_014956.5(CEP164):c.3297C>G (p.Val1099=)
|
|
|
|
NM_014956.5(CEP164):c.32A>C (p.Gln11Pro)
|
rs387907309
|
|
|
NM_014956.5(CEP164):c.3303C>T (p.His1101=)
|
rs2136499348
|
|
|
NM_014956.5(CEP164):c.3322G>T (p.Val1108Leu)
|
|
|
|
NM_014956.5(CEP164):c.3324A>G (p.Val1108=)
|
|
|
|
NM_014956.5(CEP164):c.3336T>C (p.Ser1112=)
|
|
|
|
NM_014956.5(CEP164):c.3339C>T (p.Ala1113=)
|
|
|
|
NM_014956.5(CEP164):c.333G>A (p.Lys111=)
|
rs568554283
|
|
|
NM_014956.5(CEP164):c.3341A>T (p.Lys1114Met)
|
|
|
|
NM_014956.5(CEP164):c.3353T>C (p.Val1118Ala)
|
rs1455570319
|
|
|
NM_014956.5(CEP164):c.3355_3356inv (p.Gln1119Trp)
|
|
|
|
NM_014956.5(CEP164):c.3361A>G (p.Thr1121Ala)
|
|
|
|
NM_014956.5(CEP164):c.3365G>C (p.Arg1122Pro)
|
rs144910893
|
|
|
NM_014956.5(CEP164):c.3373C>A (p.Arg1125=)
|
rs372830445
|
|
|
NM_014956.5(CEP164):c.3373C>T (p.Arg1125Trp)
|
|
|
|
NM_014956.5(CEP164):c.3379C>G (p.Arg1127Gly)
|
|
|
|
NM_014956.5(CEP164):c.3380G>T (p.Arg1127Leu)
|
rs753895198
|
|
|
NM_014956.5(CEP164):c.3382C>G (p.Gln1128Glu)
|
rs2136502331
|
|
|
NM_014956.5(CEP164):c.3387A>G (p.Thr1129=)
|
rs2136502466
|
|
|
NM_014956.5(CEP164):c.3396A>G (p.Lys1132=)
|
|
|
|
NM_014956.5(CEP164):c.339A>G (p.Lys113=)
|
rs1443066781
|
|
|
NM_014956.5(CEP164):c.3411T>C (p.His1137=)
|
rs2045591121
|
|
|
NM_014956.5(CEP164):c.3416G>A (p.Arg1139His)
|
rs143802594
|
|
|
NM_014956.5(CEP164):c.3416G>T (p.Arg1139Leu)
|
rs143802594
|
|
|
NM_014956.5(CEP164):c.3427G>C (p.Ala1143Pro)
|
|
|
|
NM_014956.5(CEP164):c.3430A>G (p.Ser1144Gly)
|
rs2136503745
|
|
|
NM_014956.5(CEP164):c.3435G>T (p.Ala1145=)
|
rs149964584
|
|
|
NM_014956.5(CEP164):c.3437del (p.Gln1146fs)
|
|
|
|
NM_014956.5(CEP164):c.3459A>G (p.Pro1153=)
|
rs1168571708
|
|
|
NM_014956.5(CEP164):c.3462C>G (p.Gly1154=)
|
rs1374201587
|
|
|
NM_014956.5(CEP164):c.3463A>G (p.Ile1155Val)
|
|
|
|
NM_014956.5(CEP164):c.3471C>A (p.Ala1157=)
|
rs1045099586
|
|
|
NM_014956.5(CEP164):c.3471C>T (p.Ala1157=)
|
|
|
|
NM_014956.5(CEP164):c.347A>G (p.Lys116Arg)
|
|
|
|
NM_014956.5(CEP164):c.347A>T (p.Lys116Met)
|
rs867484690
|
|
|
NM_014956.5(CEP164):c.347_348insT (p.Lys116fs)
|
rs1565455033
|
|
|
NM_014956.5(CEP164):c.347del (p.Lys116fs)
|
rs751277203
|
|
|
NM_014956.5(CEP164):c.347dup (p.Glu117fs)
|
|
|
|
NM_014956.5(CEP164):c.3484C>T (p.Arg1162Cys)
|
rs138487235
|
|
|
NM_014956.5(CEP164):c.3499A>G (p.Lys1167Glu)
|
|
|
|
NM_014956.5(CEP164):c.349_352del (p.Glu117fs)
|
|
|
|
NM_014956.5(CEP164):c.3501+17A>G
|
|
|
|
NM_014956.5(CEP164):c.3501+45C>G
|
rs77543424
|
|
|
NM_014956.5(CEP164):c.3501+8G>A
|
rs568399224
|
|
|
NM_014956.5(CEP164):c.3501G>C (p.Lys1167Asn)
|
rs2136505455
|
|
|
NM_014956.5(CEP164):c.3501G>T (p.Lys1167Asn)
|
|
|
|
NM_014956.5(CEP164):c.3502-12C>T
|
|
|
|
NM_014956.5(CEP164):c.3502-2A>G
|
|
|
|
NM_014956.5(CEP164):c.3502-6C>T
|
|
|
|
NM_014956.5(CEP164):c.3510G>A (p.Arg1170=)
|
rs2136879549
|
|
|
NM_014956.5(CEP164):c.3528del (p.Lys1176fs)
|
|
|
|
NM_014956.5(CEP164):c.3530C>T (p.Ser1177Leu)
|
|
|
|
NM_014956.5(CEP164):c.3535A>G (p.Met1179Val)
|
rs772378117
|
|
|
NM_014956.5(CEP164):c.3538C>A (p.Arg1180=)
|
rs557730163
|
|
|
NM_014956.5(CEP164):c.3543A>G (p.Lys1181=)
|
|
|
|
NM_014956.5(CEP164):c.3545G>A (p.Gly1182Asp)
|
rs2136880769
|
|
|
NM_014956.5(CEP164):c.3549C>T (p.His1183=)
|
|
|
|
NM_014956.5(CEP164):c.355A>G (p.Lys119Glu)
|
|
|
|
NM_014956.5(CEP164):c.3570G>A (p.Glu1190=)
|
|
|
|
NM_014956.5(CEP164):c.3571G>A (p.Glu1191Lys)
|
|
|
|
NM_014956.5(CEP164):c.3571G>C (p.Glu1191Gln)
|
|
|
|
NM_014956.5(CEP164):c.3587T>C (p.Leu1196Ser)
|
|
|
|
NM_014956.5(CEP164):c.3598_3599del (p.Trp1201fs)
|
|
|
|
NM_014956.5(CEP164):c.3605A>T (p.Glu1202Val)
|
rs2046909808
|
|
|
NM_014956.5(CEP164):c.3609+1G>T
|
|
|
|
NM_014956.5(CEP164):c.3609+20T>A
|
|
|
|
NM_014956.5(CEP164):c.3609+2_3609+5dup
|
|
|
|
NM_014956.5(CEP164):c.3609+4C>T
|
|
|
|
NM_014956.5(CEP164):c.3609+9C>G
|
|
|
|
NM_014956.5(CEP164):c.3610-13C>T
|
|
|
|
NM_014956.5(CEP164):c.3610-5C>T
|
|
|
|
NM_014956.5(CEP164):c.3613T>G (p.Ser1205Ala)
|
|
|
|
NM_014956.5(CEP164):c.3638C>T (p.Ser1213Phe)
|
rs2047007327
|
|
|
NM_014956.5(CEP164):c.3650A>G (p.Lys1217Arg)
|
rs2047009414
|
|
|
NM_014956.5(CEP164):c.3652G>T (p.Ala1218Ser)
|
rs1565634414
|
|
|
NM_014956.5(CEP164):c.3654A>G (p.Ala1218=)
|
|
|
|
NM_014956.5(CEP164):c.365A>G (p.Lys122Arg)
|
|
|
|
NM_014956.5(CEP164):c.3664G>A (p.Asp1222Asn)
|
|
|
|
NM_014956.5(CEP164):c.3684C>T (p.Ser1228=)
|
|
|
|
NM_014956.5(CEP164):c.3685dup (p.Leu1229fs)
|
|
|
|
NM_014956.5(CEP164):c.368A>G (p.Asp123Gly)
|
rs2135446465
|
|
|
NM_014956.5(CEP164):c.36G>T (p.Leu12=)
|
|
|
|
NM_014956.5(CEP164):c.3707C>G (p.Ser1236Cys)
|
rs375184395
|
|
|
NM_014956.5(CEP164):c.3708T>C (p.Ser1236=)
|
rs1457505922
|
|
|
NM_014956.5(CEP164):c.370A>G (p.Arg124Gly)
|
rs2135446492
|
|
|
NM_014956.5(CEP164):c.3711T>A (p.Phe1237Leu)
|
|
|
|
NM_014956.5(CEP164):c.3711_3712del (p.Ser1238fs)
|
rs2047013877
|
|
|
NM_014956.5(CEP164):c.3718C>T (p.Pro1240Ser)
|
rs745898523
|
|
|
NM_014956.5(CEP164):c.3722A>T (p.His1241Leu)
|
|
|
|
NM_014956.5(CEP164):c.3725G>A (p.Arg1242His)
|
rs775665636
|
|
|
NM_014956.5(CEP164):c.3727G>A (p.Glu1243Lys)
|
rs2047016520
|
|
|
NM_014956.5(CEP164):c.3732G>A (p.Trp1244Ter)
|
|
|
|
NM_014956.5(CEP164):c.3738G>A (p.Arg1246=)
|
|
|
|
NM_014956.5(CEP164):c.3745A>G (p.Arg1249Gly)
|
|
|
|
NM_014956.5(CEP164):c.3747G>T (p.Arg1249Ser)
|
rs1458226426
|
|
|
NM_014956.5(CEP164):c.3748+11G>A
|
|
|
|
NM_014956.5(CEP164):c.3748+17C>A
|
rs373984666
|
|
|
NM_014956.5(CEP164):c.3748+2T>C
|
|
|
|
NM_014956.5(CEP164):c.3748+7G>A
|
rs767096820
|
|
|
NM_014956.5(CEP164):c.3748+7G>C
|
rs767096820
|
|
|
NM_014956.5(CEP164):c.3748+7G>T
|
rs767096820
|
|
|
NM_014956.5(CEP164):c.3749-2A>G
|
rs1482717760
|
|
|
NM_014956.5(CEP164):c.3749-5_3761dup
|
rs2136932910
|
|
|
NM_014956.5(CEP164):c.3749-8del
|
rs2047095365
|
|
|
NM_014956.5(CEP164):c.3750C>T (p.Ile1250=)
|
|
|
|
NM_014956.5(CEP164):c.3751G>A (p.Asp1251Asn)
|
rs1270766012
|
|
|
NM_014956.5(CEP164):c.3751G>T (p.Asp1251Tyr)
|
|
|
|
NM_014956.5(CEP164):c.3762G>A (p.Pro1254=)
|
|
|
|
NM_014956.5(CEP164):c.3768C>T (p.Leu1256=)
|
rs779372158
|
|
|
NM_014956.5(CEP164):c.3770C>T (p.Thr1257Ile)
|
|
|
|
NM_014956.5(CEP164):c.3771C>T (p.Thr1257=)
|
|
|
|
NM_014956.5(CEP164):c.3772_3774del (p.Ser1258del)
|
rs752854208
|
|
|
NM_014956.5(CEP164):c.3787G>A (p.Gly1263Arg)
|
|
|
|
NM_014956.5(CEP164):c.3787G>C (p.Gly1263Arg)
|
rs748443825
|
|
|
NM_014956.5(CEP164):c.3789G>A (p.Gly1263=)
|
|
|
|
NM_014956.5(CEP164):c.3798C>T (p.His1266=)
|
|
|
|
NM_014956.5(CEP164):c.3801C>T (p.Ser1267=)
|
rs2136934357
|
|
|
NM_014956.5(CEP164):c.3809A>G (p.Gln1270Arg)
|
|
|
|
NM_014956.5(CEP164):c.380C>A (p.Pro127His)
|
rs143659874
|
|
|
NM_014956.5(CEP164):c.380C>G (p.Pro127Arg)
|
rs143659874
|
|
|
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu)
|
rs143659874
|
|
|
NM_014956.5(CEP164):c.381C>A (p.Pro127=)
|
rs375951540
|
|
|
NM_014956.5(CEP164):c.381C>G (p.Pro127=)
|
rs375951540
|
|
|
NM_014956.5(CEP164):c.381C>T (p.Pro127=)
|
|
|
|
NM_014956.5(CEP164):c.381del (p.Ser129fs)
|
|
|
|
NM_014956.5(CEP164):c.381dup (p.Lys128fs)
|
rs747914869
|
|
|
NM_014956.5(CEP164):c.3841A>T (p.Ile1281Phe)
|
rs2047109121
|
|
|
NM_014956.5(CEP164):c.3843C>T (p.Ile1281=)
|
rs2136935341
|
|
|
NM_014956.5(CEP164):c.3866C>T (p.Ser1289Leu)
|
rs758693012
|
|
|
NM_014956.5(CEP164):c.3870G>A (p.Pro1290=)
|
|
|
|
NM_014956.5(CEP164):c.3872C>T (p.Pro1291Leu)
|
|
|
|
NM_014956.5(CEP164):c.3875C>T (p.Pro1292Leu)
|
|
|
|
NM_014956.5(CEP164):c.3899A>G (p.Gln1300Arg)
|
|
|
|
NM_014956.5(CEP164):c.3903C>T (p.Leu1301=)
|
rs1592512650
|
|
|
NM_014956.5(CEP164):c.3911G>A (p.Arg1304Gln)
|
|
|
|
NM_014956.5(CEP164):c.3917C>T (p.Pro1306Leu)
|
|
|
|
NM_014956.5(CEP164):c.3928CCCACC[3] (p.1310PT[3])
|
rs1555159397
|
|
|
NM_014956.5(CEP164):c.3929C>T (p.Pro1310Leu)
|
rs145100782
|
|
|
NM_014956.5(CEP164):c.393+5G>A
|
rs1230691362
|
|
|
NM_014956.5(CEP164):c.3931A>C (p.Thr1311Pro)
|
rs756182128
|
|
|
NM_014956.5(CEP164):c.3934C>T (p.Pro1312Ser)
|
|
|
|
NM_014956.5(CEP164):c.3937A>C (p.Thr1313Pro)
|
rs758240656
|
|
|
NM_014956.5(CEP164):c.394-18A>C
|
rs201463212
|
|
|
NM_014956.5(CEP164):c.394-6G>T
|
rs2135688046
|
|
|
NM_014956.5(CEP164):c.394-7T>C
|
rs2135687974
|
|
|
NM_014956.5(CEP164):c.394-9G>A
|
|
|
|
NM_014956.5(CEP164):c.394G>T (p.Ala132Ser)
|
|
|
|
NM_014956.5(CEP164):c.395C>G (p.Ala132Gly)
|
rs61746874
|
|
|
NM_014956.5(CEP164):c.3965C>T (p.Ser1322Leu)
|
|
|
|
NM_014956.5(CEP164):c.3975A>G (p.Ser1325=)
|
|
|
|
NM_014956.5(CEP164):c.3990G>A (p.Thr1330=)
|
|
|
|
NM_014956.5(CEP164):c.3996C>T (p.Thr1332=)
|
rs199648719
|
|
|
NM_014956.5(CEP164):c.3999A>G (p.Gln1333=)
|
rs201718007
|
|
|
NM_014956.5(CEP164):c.4001G>A (p.Trp1334Ter)
|
|
|
|
NM_014956.5(CEP164):c.4006_4025del (p.Trp1336fs)
|
|
|
|
NM_014956.5(CEP164):c.4010dup (p.Asp1337fs)
|
rs2136940605
|
|
|
NM_014956.5(CEP164):c.4019A>C (p.Gln1340Pro)
|
rs2136940823
|
|
|
NM_014956.5(CEP164):c.4022G>A (p.Gly1341Glu)
|
|
|
|
NM_014956.5(CEP164):c.4024C>T (p.Pro1342Ser)
|
rs769315243
|
|
|
NM_014956.5(CEP164):c.4037C>G (p.Ser1346Cys)
|
rs2136941463
|
|
|
NM_014956.5(CEP164):c.4037C>T (p.Ser1346Phe)
|
|
|
|
NM_014956.5(CEP164):c.4052C>T (p.Thr1351Met)
|
|
|
|
NM_014956.5(CEP164):c.4059C>T (p.Asp1353=)
|
|
|
|
NM_014956.5(CEP164):c.4063T>C (p.Phe1355Leu)
|
|
|
|
NM_014956.5(CEP164):c.4082G>A (p.Arg1361His)
|
|
|
|
NM_014956.5(CEP164):c.4082G>C (p.Arg1361Pro)
|
rs148987415
|
|
|
NM_014956.5(CEP164):c.4084A>G (p.Lys1362Glu)
|
rs377401620
|
|
|
NM_014956.5(CEP164):c.4096+12T>A
|
|
|
|
NM_014956.5(CEP164):c.4096+17G>A
|
|
|
|
NM_014956.5(CEP164):c.4096+19G>A
|
|
|
|
NM_014956.5(CEP164):c.4096+1G>C
|
|
|
|
NM_014956.5(CEP164):c.4096+45del
|
rs5795079
|
|
|
NM_014956.5(CEP164):c.4097-13C>T
|
|
|
|
NM_014956.5(CEP164):c.4097-18G>C
|
rs2136968340
|
|
|
NM_014956.5(CEP164):c.4099G>A (p.Gly1367Ser)
|
|
|
|
NM_014956.5(CEP164):c.40_41del (p.Leu14fs)
|
|
|
|
NM_014956.5(CEP164):c.4100G>T (p.Gly1367Val)
|
|
|
|
NM_014956.5(CEP164):c.4113C>T (p.Leu1371=)
|
rs998316543
|
|
|
NM_014956.5(CEP164):c.4119C>G (p.Asn1373Lys)
|
rs73016324
|
|
|
NM_014956.5(CEP164):c.4120A>G (p.Ser1374Gly)
|
|
|
|
NM_014956.5(CEP164):c.4122C>T (p.Ser1374=)
|
|
|
|
NM_014956.5(CEP164):c.4129C>G (p.Pro1377Ala)
|
|
|
|
NM_014956.5(CEP164):c.412G>A (p.Ala138Thr)
|
|
|
|
NM_014956.5(CEP164):c.4131G>T (p.Pro1377=)
|
rs141080271
|
|
|
NM_014956.5(CEP164):c.4132C>T (p.Leu1378=)
|
|
|
|
NM_014956.5(CEP164):c.4137G>A (p.Glu1379=)
|
rs2136970360
|
|
|
NM_014956.5(CEP164):c.4140C>T (p.Ser1380=)
|
rs746720978
|
|
|
NM_014956.5(CEP164):c.4152C>T (p.Tyr1384=)
|
|
|
|
NM_014956.5(CEP164):c.4163+14G>A
|
|
|
|
NM_014956.5(CEP164):c.4163+16G>T
|
rs2136971795
|
|
|
NM_014956.5(CEP164):c.4163+3_4163+6del
|
rs2047273023
|
|
|
NM_014956.5(CEP164):c.4163+6C>T
|
rs576293282
|
|
|
NM_014956.5(CEP164):c.4164-10T>G
|
|
|
|
NM_014956.5(CEP164):c.4164-17C>T
|
|
|
|
NM_014956.5(CEP164):c.4164-9C>A
|
|
|
|
NM_014956.5(CEP164):c.4172T>G (p.Leu1391Arg)
|
rs1274336690
|
|
|
NM_014956.5(CEP164):c.4175G>C (p.Arg1392Pro)
|
rs772989312
|
|
|
NM_014956.5(CEP164):c.4203C>A (p.Val1401=)
|
rs544976647
|
|
|
NM_014956.5(CEP164):c.4203C>T (p.Val1401=)
|
|
|
|
NM_014956.5(CEP164):c.4209G>C (p.Glu1403Asp)
|
|
|
|
NM_014956.5(CEP164):c.4212G>C (p.Ala1404=)
|
rs369998799
|
|
|
NM_014956.5(CEP164):c.4218C>T (p.Ser1406=)
|
rs1592531756
|
|
|
NM_014956.5(CEP164):c.4224C>T (p.Thr1408=)
|
rs1423587348
|
|
|
NM_014956.5(CEP164):c.4237_4238delinsTA (p.Ile1413Tyr)
|
|
|
|
NM_014956.5(CEP164):c.4249C>A (p.Arg1417=)
|
rs745904143
|
|
|
NM_014956.5(CEP164):c.4249C>T (p.Arg1417Trp)
|
rs745904143
|
|
|
NM_014956.5(CEP164):c.4250G>A (p.Arg1417Gln)
|
rs560527787
|
|
|
NM_014956.5(CEP164):c.4250G>C (p.Arg1417Pro)
|
rs560527787
|
|
|
NM_014956.5(CEP164):c.4252A>G (p.Arg1418Gly)
|
rs2137001261
|
|
|
NM_014956.5(CEP164):c.4255_4262dup (p.Glu1421fs)
|
rs2047398079
|
|
|
NM_014956.5(CEP164):c.4257G>T (p.Trp1419Cys)
|
|
|
|
NM_014956.5(CEP164):c.4260G>T (p.Leu1420=)
|
|
|
|
NM_014956.5(CEP164):c.4264_4265insTGGTAAC (p.Arg1422fs)
|
|
|
|
NM_014956.5(CEP164):c.4269C>G (p.Val1423=)
|
|
|
|
NM_014956.5(CEP164):c.4284G>A (p.Arg1428=)
|
rs774452782
|
|
|
NM_014956.5(CEP164):c.4286+16G>T
|
|
|
|
NM_014956.5(CEP164):c.4286+1G>T
|
rs2047400808
|
|
|
NM_014956.5(CEP164):c.4287-6G>A
|
rs2137006602
|
|
|
NM_014956.5(CEP164):c.4288C>T (p.Pro1430Ser)
|
|
|
|
NM_014956.5(CEP164):c.4293_4294del (p.Phe1432fs)
|
rs756288878
|
|
|
NM_014956.5(CEP164):c.4299G>C (p.Ser1433=)
|
|
|
|
NM_014956.5(CEP164):c.429T>C (p.Pro143=)
|
|
|
|
NM_014956.5(CEP164):c.4303A>G (p.Thr1435Ala)
|
|
|
|
NM_014956.5(CEP164):c.4308C>G (p.Pro1436=)
|
|
|
|
NM_014956.5(CEP164):c.4321A>G (p.Thr1441Ala)
|
|
|
|
NM_014956.5(CEP164):c.4322C>G (p.Thr1441Ser)
|
|
|
|
NM_014956.5(CEP164):c.4339C>G (p.Leu1447Val)
|
|
|
|
NM_014956.5(CEP164):c.4356C>T (p.His1452=)
|
|
|
|
NM_014956.5(CEP164):c.4362A>G (p.Arg1454=)
|
|
|
|
NM_014956.5(CEP164):c.4373A>C (p.Tyr1458Ser)
|
|
|
|
NM_014956.5(CEP164):c.4376G>A (p.Arg1459His)
|
rs2137008848
|
|
|
NM_014956.5(CEP164):c.4381T>C (p.Ter1461Arg)
|
rs1565649749
|
|
|
NM_014956.5(CEP164):c.440T>C (p.Leu147Pro)
|
|
|
|
NM_014956.5(CEP164):c.444T>G (p.Ala148=)
|
rs2135689461
|
|
|
NM_014956.5(CEP164):c.456T>C (p.Gly152=)
|
rs2135689791
|
|
|
NM_014956.5(CEP164):c.468C>T (p.Thr156=)
|
rs771340026
|
|
|
NM_014956.5(CEP164):c.470del (p.Pro157fs)
|
rs2041025786
|
|
|
NM_014956.5(CEP164):c.485G>A (p.Arg162His)
|
rs139763142
|
|
|
NM_014956.5(CEP164):c.495A>G (p.Gln165=)
|
|
|
|
NM_014956.5(CEP164):c.497G>A (p.Ser166Asn)
|
|
|
|
NM_014956.5(CEP164):c.506T>C (p.Leu169Pro)
|
|
|
|
NM_014956.5(CEP164):c.516A>G (p.Ser172=)
|
rs2135691137
|
|
|
NM_014956.5(CEP164):c.519G>A (p.Val173=)
|
rs2135691164
|
|
|
NM_014956.5(CEP164):c.522G>A (p.Glu174=)
|
|
|
|
NM_014956.5(CEP164):c.53A>C (p.Tyr18Ser)
|
rs770996340
|
|
|
NM_014956.5(CEP164):c.547A>C (p.Met183Leu)
|
rs749917447
|
|
|
NM_014956.5(CEP164):c.547A>G (p.Met183Val)
|
rs749917447
|
|
|
NM_014956.5(CEP164):c.548T>C (p.Met183Thr)
|
rs144206271
|
|
|
NM_014956.5(CEP164):c.552+14C>G
|
rs754626177
|
|
|
NM_014956.5(CEP164):c.552+14C>T
|
|
|
|
NM_014956.5(CEP164):c.552+1G>C
|
rs2041038603
|
|
|
NM_014956.5(CEP164):c.553-12_688-79del
|
rs2135702447
|
|
|
NM_014956.5(CEP164):c.553-14_553-12del
|
|
|
|
NM_014956.5(CEP164):c.553-1G>A
|
rs2041099865
|
|
|
NM_014956.5(CEP164):c.553-7T>C
|
|
|
|
NM_014956.5(CEP164):c.553-8T>C
|
rs2135702598
|
|
|
NM_014956.5(CEP164):c.557C>T (p.Ser186Leu)
|
rs1354068792
|
|
|
NM_014956.5(CEP164):c.564T>C (p.Gly188=)
|
rs2135703118
|
|
|
NM_014956.5(CEP164):c.573C>T (p.Thr191=)
|
|
|
|
NM_014956.5(CEP164):c.581A>G (p.Tyr194Cys)
|
|
|
|
NM_014956.5(CEP164):c.583A>T (p.Thr195Ser)
|
rs2135703292
|
|
|
NM_014956.5(CEP164):c.584C>G (p.Thr195Arg)
|
|
|
|
NM_014956.5(CEP164):c.589G>A (p.Gly197Ser)
|
rs2135703365
|
|
|
NM_014956.5(CEP164):c.590G>A (p.Gly197Asp)
|
|
|
|
NM_014956.5(CEP164):c.591_593delinsCTCCATATATGAGGACAAGACTGCTCTCAGC (p.Leu198fs)
|
|
|
|
NM_014956.5(CEP164):c.595T>C (p.Leu199=)
|
|
|
|
NM_014956.5(CEP164):c.59A>C (p.Glu20Ala)
|
|
|
|
NM_014956.5(CEP164):c.602C>T (p.Ser201Phe)
|
|
|
|
NM_014956.5(CEP164):c.614A>G (p.Asp205Gly)
|
rs753078424
|
|
|
NM_014956.5(CEP164):c.623C>T (p.Ala208Val)
|
|
|
|
NM_014956.5(CEP164):c.644_646del (p.Gly215del)
|
rs759774330
|
|
|
NM_014956.5(CEP164):c.660GGA[1] (p.Glu221del)
|
rs2135704436
|
|
|
NM_014956.5(CEP164):c.679G>A (p.Asp227Asn)
|
|
|
|
NM_014956.5(CEP164):c.67A>G (p.Ile23Val)
|
rs2135058910
|
|
|
NM_014956.5(CEP164):c.687+12G>A
|
|
|
|
NM_014956.5(CEP164):c.687+16T>C
|
|
|
|
NM_014956.5(CEP164):c.687+19C>T
|
|
|
|
NM_014956.5(CEP164):c.687+1G>A
|
|
|
|
NM_014956.5(CEP164):c.687+5T>A
|
|
|
|
NM_014956.5(CEP164):c.687+7A>G
|
|
|
|
NM_014956.5(CEP164):c.687+8T>C
|
|
|
|
NM_014956.5(CEP164):c.687G>C (p.Gln229His)
|
rs2041112988
|
|
|
NM_014956.5(CEP164):c.688-15C>T
|
rs2135722788
|
|
|
NM_014956.5(CEP164):c.688-17A>C
|
|
|
|
NM_014956.5(CEP164):c.688-2A>C
|
rs370034077
|
|
|
NM_014956.5(CEP164):c.688-4C>T
|
|
|
|
NM_014956.5(CEP164):c.688-7T>C
|
rs539939395
|
|
|
NM_014956.5(CEP164):c.693C>G (p.Val231=)
|
|
|
|
NM_014956.5(CEP164):c.705T>C (p.Ser235=)
|
rs1316790259
|
|
|
NM_014956.5(CEP164):c.706G>A (p.Glu236Lys)
|
rs749146317
|
|
|
NM_014956.5(CEP164):c.708G>A (p.Glu236=)
|
rs770827539
|
|
|
NM_014956.5(CEP164):c.717G>C (p.Arg239Ser)
|
rs1335434297
|
|
|
NM_014956.5(CEP164):c.720C>G (p.Asn240Lys)
|
|
|
|
NM_014956.5(CEP164):c.734T>C (p.Ile245Thr)
|
|
|
|
NM_014956.5(CEP164):c.745G>T (p.Gly249Trp)
|
|
|
|
NM_014956.5(CEP164):c.749G>A (p.Gly250Asp)
|
rs368668415
|
|
|
NM_014956.5(CEP164):c.749dup (p.Gly250_Asp251insTer)
|
rs1402460878
|
|
|
NM_014956.5(CEP164):c.765+12A>G
|
|
|
|
NM_014956.5(CEP164):c.765+19A>G
|
|
|
|
NM_014956.5(CEP164):c.765+1G>A
|
rs2041251614
|
|
|
NM_014956.5(CEP164):c.765+20C>T
|
|
|
|
NM_014956.5(CEP164):c.765+3A>G
|
|
|
|
NM_014956.5(CEP164):c.765+4A>T
|
|
|
|
NM_014956.5(CEP164):c.765+6A>G
|
rs2041252535
|
|
|
NM_014956.5(CEP164):c.765+7_765+16del
|
|
|
|
NM_014956.5(CEP164):c.765+8C>T
|
rs2041253275
|
|
|
NM_014956.5(CEP164):c.766-15T>C
|
|
|
|
NM_014956.5(CEP164):c.766-16_766-9del
|
|
|
|
NM_014956.5(CEP164):c.766-2A>G
|
rs2135912935
|
|
|
NM_014956.5(CEP164):c.766-5C>T
|
|
|
|
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys)
|
rs1565416876
|
|
|
NM_014956.5(CEP164):c.770C>G (p.Ser257Cys)
|
rs2135912954
|
|
|
NM_014956.5(CEP164):c.771T>C (p.Ser257=)
|
|
|
|
NM_014956.5(CEP164):c.796AAG[1] (p.Lys267del)
|
rs764638875
|
|
|
NM_014956.5(CEP164):c.79C>A (p.Gln27Lys)
|
rs565845914
|
|
|
NM_014956.5(CEP164):c.79C>G (p.Gln27Glu)
|
|
|
|
NM_014956.5(CEP164):c.803A>G (p.Asp268Gly)
|
|
|
|
NM_014956.5(CEP164):c.815A>G (p.Asp272Gly)
|
rs1411607770
|
|
|
NM_014956.5(CEP164):c.82+16del
|
|
|
|
NM_014956.5(CEP164):c.82+19G>C
|
|
|
|
NM_014956.5(CEP164):c.829G>T (p.Gly277Cys)
|
rs772164945
|
|
|
NM_014956.5(CEP164):c.83-15T>G
|
|
|
|
NM_014956.5(CEP164):c.833C>T (p.Pro278Leu)
|
rs376214075
|
|
|
NM_014956.5(CEP164):c.861A>C (p.Pro287=)
|
|
|
|
NM_014956.5(CEP164):c.867A>G (p.Ala289=)
|
|
|
|
NM_014956.5(CEP164):c.884G>T (p.Ser295Ile)
|
rs2135914534
|
|
|
NM_014956.5(CEP164):c.88_89del (p.Ile29_Leu30insTer)
|
|
|
|
NM_014956.5(CEP164):c.893del (p.Gly298fs)
|
|
|
|
NM_014956.5(CEP164):c.925G>A (p.Gly309Ser)
|
|
|
|
NM_014956.5(CEP164):c.931C>G (p.Pro311Ala)
|
|
|
|
NM_014956.5(CEP164):c.942G>A (p.Glu314=)
|
rs2042169087
|
|
|
NM_014956.5(CEP164):c.947A>G (p.Asn316Ser)
|
|
|
|
NM_014956.5(CEP164):c.948T>C (p.Asn316=)
|
|
|
|
NM_014956.5(CEP164):c.954G>A (p.Lys318=)
|
rs1311734878
|
|
|
NM_014956.5(CEP164):c.961C>T (p.Pro321Ser)
|
rs566379982
|
|
|
NM_014956.5(CEP164):c.966G>C (p.Lys322Asn)
|
rs2042170733
|
|
|
NM_014956.5(CEP164):c.985A>T (p.Thr329Ser)
|
|
|
|
NM_014956.5(CEP164):c.986C>T (p.Thr329Ile)
|
|
|
|
NM_014956.5(CEP164):c.990_1001dup (p.Pro334_Thr335insLysAlaAspPro)
|
|
|
|
NM_014956.5(CEP164):c.997G>A (p.Asp333Asn)
|
|
|
|
NM_014956.5(CEP164):c.99C>G (p.Ala33=)
|
|
|