NM_018718.3(CEP41):c.*5102G>A
|
rs1990790
|
0.54035
|
NM_018718.3(CEP41):c.-5A>C
|
rs2287371
|
0.39010
|
NM_018718.3(CEP41):c.*4295G>C
|
rs4728195
|
0.36596
|
NM_018718.3(CEP41):c.*4037A>G
|
rs7793239
|
0.23508
|
NM_018718.3(CEP41):c.*2041G>A
|
rs73152868
|
0.18522
|
NM_018718.3(CEP41):c.*1859G>T
|
rs73152869
|
0.17105
|
NM_018718.3(CEP41):c.*1931C>T
|
rs17133175
|
0.15684
|
NM_018718.3(CEP41):c.*3887C>G
|
rs62471754
|
0.11370
|
NM_018718.2(CEP41):c.-144G>A
|
rs10230435
|
0.08654
|
NM_018718.3(CEP41):c.*927T>C
|
rs73152870
|
0.02074
|
NM_018718.3(CEP41):c.*3507C>T
|
rs149385617
|
0.01355
|
NM_018718.3(CEP41):c.*3765G>T
|
rs138768326
|
0.01276
|
NM_018718.3(CEP41):c.*3783T>C
|
rs117071818
|
0.01015
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
NM_018718.3(CEP41):c.*1512C>T
|
rs73721889
|
0.00689
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_018718.2(CEP41):c.-243G>A
|
rs542293061
|
0.00425
|
NM_018718.3(CEP41):c.*2482A>T
|
rs189091601
|
0.00317
|
NM_018718.3(CEP41):c.*2116T>C
|
rs190709953
|
0.00306
|
NM_018718.3(CEP41):c.*593G>A
|
rs186685101
|
0.00290
|
NM_018718.3(CEP41):c.*136T>G
|
rs148305542
|
0.00287
|
NM_018718.3(CEP41):c.*4314T>C
|
rs114939029
|
0.00286
|
NM_018718.3(CEP41):c.*4322G>A
|
rs538898722
|
0.00283
|
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)
|
rs147444165
|
0.00223
|
NM_018718.3(CEP41):c.*1974A>G
|
rs185337247
|
0.00220
|
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala)
|
rs143303575
|
0.00218
|
NM_018718.3(CEP41):c.*3274G>A
|
rs112007936
|
0.00199
|
NM_018718.3(CEP41):c.*655C>T
|
rs141441037
|
0.00185
|
NM_018718.3(CEP41):c.575-12T>C
|
rs186638258
|
0.00185
|
NM_018718.3(CEP41):c.*1056A>C
|
rs574982700
|
0.00170
|
NM_018718.3(CEP41):c.*5068G>A
|
rs148856430
|
0.00163
|
NM_018718.3(CEP41):c.*740C>T
|
rs553917711
|
0.00161
|
NM_018718.3(CEP41):c.*4594C>T
|
rs151309255
|
0.00159
|
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr)
|
rs147494464
|
0.00152
|
NM_018718.3(CEP41):c.*2389G>A
|
rs73152867
|
0.00138
|
NM_018718.3(CEP41):c.*4216C>T
|
rs187549864
|
0.00117
|
NM_018718.3(CEP41):c.*1579T>C
|
rs554826749
|
0.00101
|
NM_018718.3(CEP41):c.*4244C>G
|
rs544508687
|
0.00096
|
NM_018718.3(CEP41):c.*3541G>A
|
rs376434190
|
0.00088
|
NM_018718.3(CEP41):c.*680G>A
|
rs146622910
|
0.00083
|
NM_018718.3(CEP41):c.*3856C>T
|
rs187532705
|
0.00082
|
NM_018718.3(CEP41):c.*4908G>A
|
rs552988501
|
0.00080
|
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg)
|
rs116313397
|
0.00077
|
NM_018718.3(CEP41):c.*3741A>T
|
rs532169706
|
0.00076
|
NM_018718.3(CEP41):c.*1646G>A
|
rs187513408
|
0.00059
|
NM_018718.3(CEP41):c.*2481T>A
|
rs528289176
|
0.00051
|
NM_018718.3(CEP41):c.*2896G>A
|
rs147207980
|
0.00048
|
NM_018718.3(CEP41):c.*1534T>C
|
rs149912245
|
0.00047
|
NM_018718.3(CEP41):c.*1567A>C
|
rs139085191
|
0.00047
|
NM_018718.3(CEP41):c.*1981G>A
|
rs538682192
|
0.00047
|
NM_018718.3(CEP41):c.*4595G>A
|
rs117814753
|
0.00046
|
NM_018718.3(CEP41):c.*3097T>C
|
rs929238589
|
0.00042
|
NM_018718.3(CEP41):c.431G>A (p.Ser144Asn)
|
rs145850728
|
0.00041
|
NM_018718.3(CEP41):c.*1385T>G
|
rs781845516
|
0.00040
|
NM_018718.3(CEP41):c.*4599A>G
|
rs753024852
|
0.00033
|
NM_018718.3(CEP41):c.*805A>G
|
rs145808545
|
0.00030
|
NM_018718.3(CEP41):c.423-18C>A
|
rs371925259
|
0.00029
|
NM_018718.3(CEP41):c.422+7G>A
|
rs190680511
|
0.00028
|
NM_018718.3(CEP41):c.*392G>A
|
rs528501184
|
0.00026
|
NM_018718.3(CEP41):c.*4973C>T
|
rs760160179
|
0.00025
|
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro)
|
rs368525533
|
0.00025
|
NM_018718.3(CEP41):c.*2226G>A
|
rs115431091
|
0.00024
|
NM_018718.3(CEP41):c.*1341A>C
|
rs782742227
|
0.00022
|
NM_018718.3(CEP41):c.*2781A>G
|
rs782043938
|
0.00019
|
NM_018718.3(CEP41):c.*4391G>A
|
rs782450438
|
0.00019
|
NM_018718.3(CEP41):c.*2786A>C
|
rs782016580
|
0.00016
|
NM_018718.3(CEP41):c.*705G>A
|
rs782543502
|
0.00016
|
NM_018718.3(CEP41):c.*1328T>A
|
rs782132652
|
0.00014
|
NM_018718.3(CEP41):c.*4714T>C
|
rs782085608
|
0.00014
|
NM_018718.3(CEP41):c.757+12G>T
|
rs377656524
|
0.00014
|
NM_018718.3(CEP41):c.*1773A>G
|
rs782011799
|
0.00011
|
NM_018718.3(CEP41):c.*859G>A
|
rs781930185
|
0.00011
|
NM_018718.3(CEP41):c.107T>C (p.Met36Thr)
|
rs368178632
|
0.00011
|
NM_018718.3(CEP41):c.145+6del
|
rs782483563
|
0.00010
|
NM_018718.3(CEP41):c.422+6C>T
|
rs199678365
|
0.00010
|
NM_018718.3(CEP41):c.5C>T (p.Ser2Phe)
|
rs782137799
|
0.00010
|
NM_018718.3(CEP41):c.*1644A>G
|
rs533265295
|
0.00009
|
NM_018718.3(CEP41):c.*2111A>G
|
rs180725211
|
0.00009
|
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg)
|
rs201834429
|
0.00009
|
NM_018718.3(CEP41):c.*3965A>G
|
rs781992723
|
0.00008
|
NM_018718.3(CEP41):c.*1284A>G
|
rs376297063
|
0.00007
|
NM_018718.3(CEP41):c.*1336A>G
|
rs781954428
|
0.00007
|
NM_018718.3(CEP41):c.305A>G (p.Asp102Gly)
|
rs781835148
|
0.00007
|
NM_018718.3(CEP41):c.*1411G>T
|
rs886061996
|
0.00006
|
NM_018718.3(CEP41):c.*409A>C
|
rs782042681
|
0.00006
|
NM_018718.3(CEP41):c.*776G>A
|
rs374833862
|
0.00006
|
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg)
|
rs564625875
|
0.00006
|
NM_018718.3(CEP41):c.1032C>T (p.Ser344=)
|
rs189895981
|
0.00006
|
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly)
|
rs141025803
|
0.00006
|
NM_018718.3(CEP41):c.407G>A (p.Arg136His)
|
rs546106020
|
0.00006
|
NM_018718.3(CEP41):c.957G>A (p.Gly319=)
|
rs367931878
|
0.00006
|
NM_018718.3(CEP41):c.*1352G>A
|
rs1380245671
|
0.00005
|
NM_018718.3(CEP41):c.*1538A>C
|
rs777673385
|
0.00005
|
NM_018718.3(CEP41):c.*3193C>T
|
rs886061989
|
0.00005
|
NM_018718.3(CEP41):c.*4769C>T
|
rs965337048
|
0.00005
|
NM_018718.3(CEP41):c.*614A>G
|
rs781791465
|
0.00005
|
NM_018718.3(CEP41):c.*682A>G
|
rs782649697
|
0.00005
|
NM_018718.3(CEP41):c.*881G>A
|
rs782801860
|
0.00005
|
NM_018718.3(CEP41):c.146-11A>G
|
rs781817949
|
0.00005
|
NM_018718.3(CEP41):c.786G>A (p.Pro262=)
|
rs782460743
|
0.00005
|
NM_018718.3(CEP41):c.*3451G>A
|
rs144534675
|
0.00004
|
NM_018718.3(CEP41):c.*4385C>T
|
rs556578226
|
0.00004
|
NM_018718.3(CEP41):c.*747G>A
|
rs782582354
|
0.00004
|
NM_018718.3(CEP41):c.1078C>T (p.Arg360Cys)
|
rs371812716
|
0.00004
|
NM_018718.3(CEP41):c.13A>G (p.Arg5Gly)
|
rs782048004
|
0.00004
|
NM_018718.3(CEP41):c.213C>T (p.Ile71=)
|
rs370498782
|
0.00004
|
NM_018718.3(CEP41):c.277+16G>C
|
rs782272723
|
0.00004
|
NM_018718.3(CEP41):c.357G>A (p.Ser119=)
|
rs1179996142
|
0.00004
|
NM_018718.3(CEP41):c.716T>C (p.Met239Thr)
|
rs200882016
|
0.00004
|
NM_018718.3(CEP41):c.785C>T (p.Pro262Leu)
|
rs200709703
|
0.00004
|
NM_018718.3(CEP41):c.911C>G (p.Pro304Arg)
|
rs782392521
|
0.00004
|
NM_018718.3(CEP41):c.*2669A>G
|
rs905679390
|
0.00003
|
NM_018718.3(CEP41):c.*2849A>G
|
rs1288708394
|
0.00003
|
NM_018718.3(CEP41):c.*3040G>A
|
rs566129615
|
0.00003
|
NM_018718.3(CEP41):c.*3044A>G
|
rs886061991
|
0.00003
|
NM_018718.3(CEP41):c.*333C>T
|
rs886062000
|
0.00003
|
NM_018718.3(CEP41):c.*4007C>T
|
rs782719854
|
0.00003
|
NM_018718.3(CEP41):c.*578T>C
|
rs782132140
|
0.00003
|
NM_018718.3(CEP41):c.1040A>G (p.Asn347Ser)
|
rs782131552
|
0.00003
|
NM_018718.3(CEP41):c.130G>A (p.Glu44Lys)
|
rs138907207
|
0.00003
|
NM_018718.3(CEP41):c.225C>T (p.Ser75=)
|
rs1402831101
|
0.00003
|
NM_018718.3(CEP41):c.33+9C>G
|
rs376019428
|
0.00003
|
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter)
|
rs781848162
|
0.00003
|
NM_018718.3(CEP41):c.4T>G (p.Ser2Ala)
|
rs782769549
|
0.00003
|
NM_018718.3(CEP41):c.510C>T (p.Asp170=)
|
rs782083906
|
0.00003
|
NM_018718.3(CEP41):c.536G>A (p.Arg179His)
|
rs140259402
|
0.00003
|
NM_018718.3(CEP41):c.643-6T>A
|
rs782610948
|
0.00003
|
NM_018718.3(CEP41):c.679G>A (p.Asp227Asn)
|
rs782704307
|
0.00003
|
NM_018718.3(CEP41):c.725G>A (p.Arg242His)
|
rs191246968
|
0.00003
|
NM_018718.3(CEP41):c.757+11T>C
|
rs1050676312
|
0.00003
|
NM_018718.3(CEP41):c.851G>A (p.Arg284Gln)
|
rs782105300
|
0.00003
|
NM_018718.3(CEP41):c.*2605C>T
|
rs886061992
|
0.00002
|
NM_018718.3(CEP41):c.*277A>G
|
rs886062001
|
0.00002
|
NM_018718.3(CEP41):c.*4417G>A
|
rs886061988
|
0.00002
|
NM_018718.3(CEP41):c.*4464T>C
|
rs886061987
|
0.00002
|
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg)
|
rs782371437
|
0.00002
|
NM_018718.3(CEP41):c.1050T>G (p.Gly350=)
|
rs374440977
|
0.00002
|
NM_018718.3(CEP41):c.1060G>A (p.Ala354Thr)
|
rs201490201
|
0.00002
|
NM_018718.3(CEP41):c.1115G>A (p.Trp372Ter)
|
rs139909606
|
0.00002
|
NM_018718.3(CEP41):c.205C>T (p.Leu69=)
|
rs144793783
|
0.00002
|
NM_018718.3(CEP41):c.277+19G>A
|
rs377242873
|
0.00002
|
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr)
|
rs200516165
|
0.00002
|
NM_018718.3(CEP41):c.514C>T (p.Pro172Ser)
|
rs781914996
|
0.00002
|
NM_018718.3(CEP41):c.589A>T (p.Ile197Phe)
|
rs782265732
|
0.00002
|
NM_018718.3(CEP41):c.653A>C (p.His218Pro)
|
rs527896814
|
0.00002
|
NM_018718.3(CEP41):c.664A>G (p.Ile222Val)
|
rs560824415
|
0.00002
|
NM_018718.3(CEP41):c.723G>A (p.Glu241=)
|
rs782303641
|
0.00002
|
NM_018718.3(CEP41):c.781T>C (p.Phe261Leu)
|
rs782241458
|
0.00002
|
NM_018718.3(CEP41):c.812C>T (p.Pro271Leu)
|
rs782704918
|
0.00002
|
NM_018718.3(CEP41):c.*1205G>T
|
rs1554415397
|
0.00001
|
NM_018718.3(CEP41):c.*1766T>C
|
rs1211217706
|
0.00001
|
NM_018718.3(CEP41):c.*2159C>T
|
rs886061995
|
0.00001
|
NM_018718.3(CEP41):c.*2709G>A
|
rs1342689782
|
0.00001
|
NM_018718.3(CEP41):c.*4505G>T
|
rs1554413676
|
0.00001
|
NM_018718.3(CEP41):c.*4994T>C
|
rs527933839
|
0.00001
|
NM_018718.3(CEP41):c.*55G>A
|
rs782471506
|
0.00001
|
NM_018718.3(CEP41):c.*832A>C
|
rs1554415585
|
0.00001
|
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys)
|
rs782672149
|
0.00001
|
NM_018718.3(CEP41):c.1028G>A (p.Arg343Gln)
|
rs782089459
|
0.00001
|
NM_018718.3(CEP41):c.1053C>T (p.Gly351=)
|
rs782191360
|
0.00001
|
NM_018718.3(CEP41):c.1054G>A (p.Gly352Ser)
|
rs782590600
|
0.00001
|
NM_018718.3(CEP41):c.1061C>T (p.Ala354Val)
|
rs781832103
|
0.00001
|
NM_018718.3(CEP41):c.1081T>C (p.Ser361Pro)
|
rs587780311
|
0.00001
|
NM_018718.3(CEP41):c.1087A>G (p.Ser363Gly)
|
rs201504407
|
0.00001
|
NM_018718.3(CEP41):c.145+3A>G
|
rs782008140
|
0.00001
|
NM_018718.3(CEP41):c.145+5G>A
|
rs1413177096
|
0.00001
|
NM_018718.3(CEP41):c.146-18T>C
|
rs202065857
|
0.00001
|
NM_018718.3(CEP41):c.157A>G (p.Lys53Glu)
|
rs1554419921
|
0.00001
|
NM_018718.3(CEP41):c.164A>T (p.Asp55Val)
|
rs782776244
|
0.00001
|
NM_018718.3(CEP41):c.165T>C (p.Asp55=)
|
rs782085186
|
0.00001
|
NM_018718.3(CEP41):c.186A>G (p.Lys62=)
|
rs1797202624
|
0.00001
|
NM_018718.3(CEP41):c.200C>T (p.Ala67Val)
|
rs782426353
|
0.00001
|
NM_018718.3(CEP41):c.208-17A>G
|
rs1374383852
|
0.00001
|
NM_018718.3(CEP41):c.278-1G>A
|
rs1796956272
|
0.00001
|
NM_018718.3(CEP41):c.278A>G (p.Asp93Gly)
|
rs1554417870
|
0.00001
|
NM_018718.3(CEP41):c.308C>T (p.Ala103Val)
|
rs369687508
|
0.00001
|
NM_018718.3(CEP41):c.384C>T (p.Asn128=)
|
rs374535389
|
0.00001
|
NM_018718.3(CEP41):c.423-8A>G
|
rs1796893817
|
0.00001
|
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu)
|
rs111688621
|
0.00001
|
NM_018718.3(CEP41):c.565A>G (p.Ile189Val)
|
rs782591147
|
0.00001
|
NM_018718.3(CEP41):c.637G>A (p.Glu213Lys)
|
rs782466306
|
0.00001
|
NM_018718.3(CEP41):c.643-12T>C
|
rs782521409
|
0.00001
|
NM_018718.3(CEP41):c.678C>T (p.Asp226=)
|
rs545406161
|
0.00001
|
NM_018718.3(CEP41):c.696C>T (p.Ala232=)
|
rs1796819118
|
0.00001
|
NM_018718.3(CEP41):c.705G>A (p.Ala235=)
|
rs149052906
|
0.00001
|
NM_018718.3(CEP41):c.724C>T (p.Arg242Cys)
|
rs1554416667
|
0.00001
|
NM_018718.3(CEP41):c.741C>T (p.Leu247=)
|
rs781822221
|
0.00001
|
NM_018718.3(CEP41):c.753C>T (p.Ser251=)
|
rs200612684
|
0.00001
|
NM_018718.3(CEP41):c.826C>G (p.Gln276Glu)
|
rs782815662
|
0.00001
|
NM_018718.3(CEP41):c.850C>T (p.Arg284Trp)
|
rs782729874
|
0.00001
|
NM_018718.3(CEP41):c.929T>A (p.Ile310Lys)
|
rs782435349
|
0.00001
|
NM_018718.3(CEP41):c.942_943del (p.Glu315fs)
|
rs1584867379
|
0.00001
|
NM_018718.3(CEP41):c.971C>T (p.Pro324Leu)
|
rs782474335
|
0.00001
|
NM_018718.3(CEP41):c.973+11T>C
|
rs781847285
|
0.00001
|
NM_018718.3(CEP41):c.973+15C>T
|
rs979158941
|
0.00001
|
NM_018718.3(CEP41):c.974-8C>T
|
rs367692258
|
0.00001
|
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter)
|
rs782286004
|
0.00001
|
NM_018718.2(CEP41):c.-178C>A
|
rs10230670
|
|
NM_018718.2(CEP41):c.-178C>T
|
rs10230670
|
|
NM_018718.2(CEP41):c.-244A>T
|
rs886062003
|
|
NM_018718.3(CEP41):c.*1191G>A
|
rs781848072
|
|
NM_018718.3(CEP41):c.*1357del
|
rs886061999
|
|
NM_018718.3(CEP41):c.*1384del
|
rs55776575
|
|
NM_018718.3(CEP41):c.*1384dup
|
rs55776575
|
|
NM_018718.3(CEP41):c.*1386dup
|
rs886061997
|
|
NM_018718.3(CEP41):c.*1768G>T
|
rs552499760
|
|
NM_018718.3(CEP41):c.*2194C>T
|
rs886061994
|
|
NM_018718.3(CEP41):c.*2196T>C
|
rs574519929
|
|
NM_018718.3(CEP41):c.*2386A>G
|
rs886061993
|
|
NM_018718.3(CEP41):c.*2725C>T
|
rs1796651983
|
|
NM_018718.3(CEP41):c.*287C>T
|
rs1796743356
|
|
NM_018718.3(CEP41):c.*3069T>C
|
rs886061990
|
|
NM_018718.3(CEP41):c.*3526dup
|
rs3839655
|
|
NM_018718.3(CEP41):c.*3708A>T
|
rs576298616
|
|
NM_018718.3(CEP41):c.*4343C>G
|
rs1554413758
|
|
NM_018718.3(CEP41):c.*4365G>A
|
rs535299613
|
|
NM_018718.3(CEP41):c.*4539C>T
|
rs1796601439
|
|
NM_018718.3(CEP41):c.*4659C>G
|
rs886061986
|
|
NM_018718.3(CEP41):c.*4866C>T
|
rs782719539
|
|
NM_018718.3(CEP41):c.-41C>T
|
rs886062002
|
|
NM_018718.3(CEP41):c.1018C>G (p.Pro340Ala)
|
|
|
NM_018718.3(CEP41):c.1022G>A (p.Gly341Asp)
|
rs1554416156
|
|
NM_018718.3(CEP41):c.102C>T (p.Asn34=)
|
rs781793746
|
|
NM_018718.3(CEP41):c.1033G>A (p.Ala345Thr)
|
rs184146463
|
|
NM_018718.3(CEP41):c.1033G>T (p.Ala345Ser)
|
rs184146463
|
|
NM_018718.3(CEP41):c.103A>G (p.Ser35Gly)
|
|
|
NM_018718.3(CEP41):c.1042C>T (p.Leu348=)
|
|
|
NM_018718.3(CEP41):c.1044G>T (p.Leu348=)
|
|
|
NM_018718.3(CEP41):c.104G>A (p.Ser35Asn)
|
|
|
NM_018718.3(CEP41):c.1052G>A (p.Gly351Asp)
|
rs2117546322
|
|
NM_018718.3(CEP41):c.1062C>T (p.Ala354=)
|
rs782552317
|
|
NM_018718.3(CEP41):c.1075C>T (p.Pro359Ser)
|
|
|
NM_018718.3(CEP41):c.1079G>C (p.Arg360Pro)
|
rs781878740
|
|
NM_018718.3(CEP41):c.1080C>T (p.Arg360=)
|
rs782746850
|
|
NM_018718.3(CEP41):c.1082C>A (p.Ser361Tyr)
|
|
|
NM_018718.3(CEP41):c.1086CAG[3] (p.Ser364dup)
|
rs1796754986
|
|
NM_018718.3(CEP41):c.108G>T (p.Met36Ile)
|
|
|
NM_018718.3(CEP41):c.1111C>T (p.Pro371Ser)
|
rs782211413
|
|
NM_018718.3(CEP41):c.1122_*1del (p.Lys373_Ter374insTer)
|
|
|
NM_018718.3(CEP41):c.112A>G (p.Lys38Glu)
|
rs1797355895
|
|
NM_018718.3(CEP41):c.114A>G (p.Lys38=)
|
rs1554421037
|
|
NM_018718.3(CEP41):c.129C>G (p.Leu43=)
|
|
|
NM_018718.3(CEP41):c.145+16G>C
|
|
|
NM_018718.3(CEP41):c.145+16G>T
|
rs2117627031
|
|
NM_018718.3(CEP41):c.145+7A>G
|
|
|
NM_018718.3(CEP41):c.146-13C>T
|
rs782677555
|
|
NM_018718.3(CEP41):c.146-9A>G
|
rs372039618
|
|
NM_018718.3(CEP41):c.14G>A (p.Arg5Lys)
|
|
|
NM_018718.3(CEP41):c.162A>C (p.Lys54Asn)
|
|
|
NM_018718.3(CEP41):c.162A>G (p.Lys54=)
|
|
|
NM_018718.3(CEP41):c.176A>G (p.Lys59Arg)
|
rs1797203213
|
|
NM_018718.3(CEP41):c.180A>G (p.Arg60=)
|
|
|
NM_018718.3(CEP41):c.184A>C (p.Lys62Gln)
|
|
|
NM_018718.3(CEP41):c.208-5A>T
|
|
|
NM_018718.3(CEP41):c.208-6T>C
|
|
|
NM_018718.3(CEP41):c.208-7C>G
|
rs782769113
|
|
NM_018718.3(CEP41):c.208-7C>T
|
rs782769113
|
|
NM_018718.3(CEP41):c.208A>G (p.Ile70Val)
|
|
|
NM_018718.3(CEP41):c.226C>G (p.Leu76Val)
|
rs1797171250
|
|
NM_018718.3(CEP41):c.230C>G (p.Ser77Cys)
|
rs1797171055
|
|
NM_018718.3(CEP41):c.242T>C (p.Leu81Pro)
|
|
|
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter)
|
rs1562984087
|
|
NM_018718.3(CEP41):c.253G>C (p.Ala85Pro)
|
rs946180222
|
|
NM_018718.3(CEP41):c.258G>A (p.Glu86=)
|
rs1309424611
|
|
NM_018718.3(CEP41):c.266A>G (p.Gln89Arg)
|
|
|
NM_018718.3(CEP41):c.277+10del
|
rs782128369
|
|
NM_018718.3(CEP41):c.277+17G>A
|
|
|
NM_018718.3(CEP41):c.277G>C (p.Asp93His)
|
rs1797169504
|
|
NM_018718.3(CEP41):c.278-15A>C
|
rs142452124
|
|
NM_018718.3(CEP41):c.278-15A>T
|
rs142452124
|
|
NM_018718.3(CEP41):c.278-9A>C
|
|
|
NM_018718.3(CEP41):c.281A>G (p.Asn94Ser)
|
|
|
NM_018718.3(CEP41):c.287C>G (p.Ser96Cys)
|
rs2117574982
|
|
NM_018718.3(CEP41):c.28C>A (p.Pro10Thr)
|
rs149373377
|
|
NM_018718.3(CEP41):c.28C>G (p.Pro10Ala)
|
rs149373377
|
|
NM_018718.3(CEP41):c.298G>A (p.Asp100Asn)
|
rs150251054
|
|
NM_018718.3(CEP41):c.298G>C (p.Asp100His)
|
|
|
NM_018718.3(CEP41):c.299A>G (p.Asp100Gly)
|
|
|
NM_018718.3(CEP41):c.30T>G (p.Pro10=)
|
|
|
NM_018718.3(CEP41):c.320C>T (p.Ala107Val)
|
rs141025803
|
|
NM_018718.3(CEP41):c.327C>T (p.Thr109=)
|
|
|
NM_018718.3(CEP41):c.33+10A>G
|
|
|
NM_018718.3(CEP41):c.33+16C>T
|
|
|
NM_018718.3(CEP41):c.33+20C>A
|
|
|
NM_018718.3(CEP41):c.33+2T>G
|
rs1584916464
|
|
NM_018718.3(CEP41):c.33+6G>A
|
rs1798137622
|
|
NM_018718.3(CEP41):c.33G>A (p.Glu11=)
|
rs2117739865
|
|
NM_018718.3(CEP41):c.34-14del
|
|
|
NM_018718.3(CEP41):c.34-17A>G
|
|
|
NM_018718.3(CEP41):c.34-2A>G
|
rs1797714974
|
|
NM_018718.3(CEP41):c.353A>G (p.Gln118Arg)
|
rs782235279
|
|
NM_018718.3(CEP41):c.359C>G (p.Pro120Arg)
|
|
|
NM_018718.3(CEP41):c.360G>A (p.Pro120=)
|
|
|
NM_018718.3(CEP41):c.362G>C (p.Ser121Thr)
|
rs782508627
|
|
NM_018718.3(CEP41):c.363C>G (p.Ser121Arg)
|
|
|
NM_018718.3(CEP41):c.367G>C (p.Glu123Gln)
|
rs782614895
|
|
NM_018718.3(CEP41):c.371A>C (p.Gln124Pro)
|
|
|
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser)
|
rs782436531
|
|
NM_018718.3(CEP41):c.411A>G (p.Ser137=)
|
rs1796949890
|
|
NM_018718.3(CEP41):c.422+5T>C
|
|
|
NM_018718.3(CEP41):c.423-2A>C
|
rs781815473
|
|
NM_018718.3(CEP41):c.423-2A>G
|
rs781815473
|
|
NM_018718.3(CEP41):c.423-4G>T
|
rs1554417330
|
|
NM_018718.3(CEP41):c.423-9C>G
|
|
|
NM_018718.3(CEP41):c.423T>C (p.Ser141=)
|
|
|
NM_018718.3(CEP41):c.428T>A (p.Ile143Asn)
|
rs782614635
|
|
NM_018718.3(CEP41):c.42G>T (p.Met14Ile)
|
rs1797714880
|
|
NM_018718.3(CEP41):c.437T>C (p.Val146Ala)
|
rs1170058733
|
|
NM_018718.3(CEP41):c.438T>G (p.Val146=)
|
|
|
NM_018718.3(CEP41):c.468G>A (p.Val156=)
|
rs1796891578
|
|
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg)
|
rs1554417299
|
|
NM_018718.3(CEP41):c.477del (p.Glu160fs)
|
|
|
NM_018718.3(CEP41):c.488C>T (p.Thr163Ile)
|
rs2117565108
|
|
NM_018718.3(CEP41):c.499C>T (p.Pro167Ser)
|
rs1796890244
|
|
NM_018718.3(CEP41):c.513C>T (p.Cys171=)
|
rs922629262
|
|
NM_018718.3(CEP41):c.52C>T (p.Pro18Ser)
|
|
|
NM_018718.3(CEP41):c.546T>G (p.Asp182Glu)
|
|
|
NM_018718.3(CEP41):c.553C>G (p.Gln185Glu)
|
rs782587361
|
|
NM_018718.3(CEP41):c.568G>T (p.Val190Phe)
|
|
|
NM_018718.3(CEP41):c.574+7G>C
|
|
|
NM_018718.3(CEP41):c.575-14del
|
rs144531086
|
|
NM_018718.3(CEP41):c.575-19C>T
|
|
|
NM_018718.3(CEP41):c.578A>C (p.Tyr193Ser)
|
rs201818904
|
|
NM_018718.3(CEP41):c.581G>A (p.Ser194Asn)
|
|
|
NM_018718.3(CEP41):c.595A>G (p.Thr199Ala)
|
rs1796855782
|
|
NM_018718.3(CEP41):c.610A>G (p.Met204Val)
|
rs782188831
|
|
NM_018718.3(CEP41):c.641A>T (p.Tyr214Phe)
|
rs1796853863
|
|
NM_018718.3(CEP41):c.642+5C>T
|
rs2117560304
|
|
NM_018718.3(CEP41):c.642T>C (p.Tyr214=)
|
rs1796853773
|
|
NM_018718.3(CEP41):c.643-16del
|
rs2117556026
|
|
NM_018718.3(CEP41):c.643-7C>G
|
|
|
NM_018718.3(CEP41):c.643-9del
|
|
|
NM_018718.3(CEP41):c.653A>G (p.His218Arg)
|
rs527896814
|
|
NM_018718.3(CEP41):c.659A>G (p.Lys220Arg)
|
rs1472855500
|
|
NM_018718.3(CEP41):c.672G>C (p.Leu224=)
|
|
|
NM_018718.3(CEP41):c.678C>G (p.Asp226Glu)
|
|
|
NM_018718.3(CEP41):c.67T>A (p.Tyr23Asn)
|
|
|
NM_018718.3(CEP41):c.697A>G (p.Ser233Gly)
|
rs1796819026
|
|
NM_018718.3(CEP41):c.703G>A (p.Ala235Thr)
|
rs2117555473
|
|
NM_018718.3(CEP41):c.705G>T (p.Ala235=)
|
rs149052906
|
|
NM_018718.3(CEP41):c.717G>T (p.Met239Ile)
|
rs2117555395
|
|
NM_018718.3(CEP41):c.720C>T (p.Cys240=)
|
|
|
NM_018718.3(CEP41):c.738C>T (p.Asn246=)
|
|
|
NM_018718.3(CEP41):c.741C>A (p.Leu247=)
|
|
|
NM_018718.3(CEP41):c.757+16C>T
|
|
|
NM_018718.3(CEP41):c.757+2T>A
|
|
|
NM_018718.3(CEP41):c.757+5G>A
|
rs909436822
|
|
NM_018718.3(CEP41):c.758-14dup
|
rs1156468685
|
|
NM_018718.3(CEP41):c.769T>G (p.Leu257Val)
|
rs2117552967
|
|
NM_018718.3(CEP41):c.773C>T (p.Ala258Val)
|
rs1050700461
|
|
NM_018718.3(CEP41):c.798T>G (p.Ile266Met)
|
rs2117552869
|
|
NM_018718.3(CEP41):c.7del (p.Leu3fs)
|
rs1798139951
|
|
NM_018718.3(CEP41):c.800C>T (p.Thr267Ile)
|
rs2117552856
|
|
NM_018718.3(CEP41):c.831C>G (p.Ala277=)
|
|
|
NM_018718.3(CEP41):c.831C>T (p.Ala277=)
|
rs782120276
|
|
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)
|
rs1584901211
|
|
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
|
|
|
NM_018718.3(CEP41):c.867C>T (p.Pro289=)
|
rs782385841
|
|
NM_018718.3(CEP41):c.880del (p.Leu294fs)
|
|
|
NM_018718.3(CEP41):c.893A>G (p.Asn298Ser)
|
rs2117552201
|
|
NM_018718.3(CEP41):c.928A>G (p.Ile310Val)
|
rs1308536722
|
|
NM_018718.3(CEP41):c.947_948dup (p.Glu317fs)
|
rs782610112
|
|
NM_018718.3(CEP41):c.953A>C (p.Gln318Pro)
|
rs2117551648
|
|
NM_018718.3(CEP41):c.954A>G (p.Gln318=)
|
rs2117551629
|
|
NM_018718.3(CEP41):c.955G>T (p.Gly319Trp)
|
|
|
NM_018718.3(CEP41):c.965A>G (p.Asp322Gly)
|
|
|
NM_018718.3(CEP41):c.97+12T>G
|
|
|
NM_018718.3(CEP41):c.97+3_97+5del
|
rs2117674119
|
|
NM_018718.3(CEP41):c.973+16C>A
|
rs2117551370
|
|
NM_018718.3(CEP41):c.973+404_1077del
|
rs1796755672
|
|
NM_018718.3(CEP41):c.973+8del
|
rs2117551461
|
|
NM_018718.3(CEP41):c.974-11G>T
|
|
|
NM_018718.3(CEP41):c.974-14C>T
|
|
|
NM_018718.3(CEP41):c.974-19TCTT[3]
|
|
|
NM_018718.3(CEP41):c.977G>A (p.Arg326Gln)
|
rs782387467
|
|
NM_018718.3(CEP41):c.977G>T (p.Arg326Leu)
|
rs782387467
|
|
NM_018718.3(CEP41):c.97G>A (p.Gly33Ser)
|
|
|
NM_018718.3(CEP41):c.98-20A>G
|
|
|
NM_018718.3(CEP41):c.98-2A>G
|
|
|
NM_018718.3(CEP41):c.98-8C>A
|
rs782606521
|
|
NM_018718.3(CEP41):c.98-8C>T
|
|
|
NM_018718.3(CEP41):c.997T>C (p.Ser333Pro)
|
rs1796760925
|
|
NM_018718.3(CEP41):c.999C>T (p.Ser333=)
|
|
|