NM_001199397.3(NEK1):c.*165G>A
|
rs4692721
|
0.91298
|
NM_001199397.3(NEK1):c.2765-20G>A
|
rs7680152
|
0.79844
|
NM_001199397.3(NEK1):c.*495T>C
|
rs1129694
|
0.37477
|
NM_001199397.3(NEK1):c.*710A>G
|
rs13212
|
0.17144
|
NM_001199397.3(NEK1):c.2255A>G (p.Glu752Gly)
|
rs34099167
|
0.09622
|
NM_001199397.3(NEK1):c.3033G>A (p.Pro1011=)
|
rs7655924
|
0.09091
|
NM_001199397.3(NEK1):c.1068G>A (p.Arg356=)
|
rs17055010
|
0.07760
|
NM_001199397.3(NEK1):c.-528G>A
|
rs75976017
|
0.07715
|
NM_001199397.3(NEK1):c.607-3T>C
|
rs55679731
|
0.07330
|
NM_001199397.3(NEK1):c.1146T>C (p.Ile382=)
|
rs56064008
|
0.06017
|
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=)
|
rs17544885
|
0.05849
|
NM_001199397.3(NEK1):c.1876G>A (p.Ala626Thr)
|
rs33933790
|
0.05183
|
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val)
|
rs34540355
|
0.03694
|
NM_001199397.3(NEK1):c.2764+12T>A
|
rs77658514
|
0.01594
|
NM_001199397.3(NEK1):c.*154G>A
|
rs139328912
|
0.01356
|
NM_001199397.3(NEK1):c.-488C>T
|
rs62334514
|
0.01094
|
NM_001199397.3(NEK1):c.3624T>C (p.Asp1208=)
|
rs55740606
|
0.00560
|
NM_001199397.3(NEK1):c.2731C>G (p.Gln911Glu)
|
rs6828134
|
0.00535
|
NM_001199397.3(NEK1):c.2235T>G (p.Asn745Lys)
|
rs34324114
|
0.00417
|
NM_001199397.3(NEK1):c.*551A>T
|
rs181225797
|
0.00360
|
NM_001199397.3(NEK1):c.3285C>T (p.Pro1095=)
|
rs140408058
|
0.00301
|
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr)
|
rs189186475
|
0.00227
|
NM_001199397.3(NEK1):c.975A>G (p.Gly325=)
|
rs150904906
|
0.00218
|
NM_001199397.3(NEK1):c.782G>A (p.Arg261His)
|
rs200161705
|
0.00216
|
NM_001199397.3(NEK1):c.1581T>C (p.Ala527=)
|
rs184804243
|
0.00188
|
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=)
|
rs56077602
|
0.00169
|
NM_001199397.3(NEK1):c.*156C>T
|
rs886059224
|
0.00153
|
NM_001199397.3(NEK1):c.924T>G (p.Ile308Met)
|
rs10034957
|
0.00151
|
NM_001199397.3(NEK1):c.-289T>C
|
rs776707093
|
0.00120
|
NM_001199397.3(NEK1):c.3213C>T (p.Asn1071=)
|
rs184324310
|
0.00098
|
NM_001199397.3(NEK1):c.2940G>A (p.Ser980=)
|
rs56252746
|
0.00080
|
NM_001199397.3(NEK1):c.*658A>G
|
rs185294844
|
0.00073
|
NM_001199397.3(NEK1):c.-52T>C
|
rs771331236
|
0.00067
|
NM_001199397.3(NEK1):c.277A>G (p.Asn93Asp)
|
rs201350526
|
0.00067
|
NM_001199397.3(NEK1):c.618C>A (p.Gly206=)
|
rs373174833
|
0.00066
|
NM_001199397.3(NEK1):c.2137G>A (p.Val713Met)
|
rs199827465
|
0.00063
|
NM_001199397.3(NEK1):c.686A>G (p.Tyr229Cys)
|
rs61737748
|
0.00062
|
NM_001199397.3(NEK1):c.214+6A>G
|
rs375956427
|
0.00056
|
NM_001199397.3(NEK1):c.2647T>C (p.Cys883Arg)
|
rs141491586
|
0.00056
|
NM_001199397.3(NEK1):c.3193A>G (p.Thr1065Ala)
|
rs371084271
|
0.00044
|
NM_001199397.3(NEK1):c.3047A>G (p.His1016Arg)
|
rs200619983
|
0.00038
|
NM_001199397.3(NEK1):c.3567C>T (p.Asn1189=)
|
rs200710438
|
0.00038
|
NM_001199397.3(NEK1):c.*107A>G
|
rs767808092
|
0.00035
|
NM_001199397.3(NEK1):c.*1222T>G
|
rs543801862
|
0.00028
|
NM_001199397.3(NEK1):c.3583+8A>C
|
rs192372022
|
0.00026
|
NM_001199397.3(NEK1):c.1617G>A (p.Gln539=)
|
rs146569517
|
0.00024
|
NM_001199397.3(NEK1):c.2139+13A>G
|
rs369548359
|
0.00024
|
NM_001199397.3(NEK1):c.3771T>C (p.Asn1257=)
|
rs781165423
|
0.00024
|
NM_001199397.3(NEK1):c.*996G>A
|
rs868452742
|
0.00019
|
NM_001199397.3(NEK1):c.1137T>A (p.Asp379Glu)
|
rs372585344
|
0.00019
|
NM_001199397.3(NEK1):c.1750-5T>C
|
rs199522035
|
0.00018
|
NM_001199397.3(NEK1):c.2889G>A (p.Ser963=)
|
rs756830252
|
0.00018
|
NM_001199397.3(NEK1):c.-504T>C
|
rs550632789
|
0.00017
|
NM_001199397.3(NEK1):c.1925C>G (p.Ala642Gly)
|
rs529024280
|
0.00017
|
NM_001199397.3(NEK1):c.2974G>A (p.Glu992Lys)
|
rs369134166
|
0.00017
|
NM_001199397.3(NEK1):c.*494A>G
|
rs532868932
|
0.00016
|
NM_001199397.3(NEK1):c.1141-19del
|
rs773179397
|
0.00016
|
NM_001199397.3(NEK1):c.1192-17A>C
|
rs112361330
|
0.00016
|
NM_001199397.3(NEK1):c.162A>G (p.Val54=)
|
rs369056831
|
0.00014
|
NM_001199397.3(NEK1):c.2205+15C>T
|
rs377301531
|
0.00014
|
NM_001199397.3(NEK1):c.292G>A (p.Val98Ile)
|
rs115005766
|
0.00014
|
NM_001199397.3(NEK1):c.594A>G (p.Thr198=)
|
rs373252814
|
0.00014
|
NM_001199397.3(NEK1):c.*459A>C
|
rs1038930121
|
0.00012
|
NM_001199397.3(NEK1):c.114A>T (p.Ser38=)
|
rs778749876
|
0.00012
|
NM_001199397.3(NEK1):c.2224C>T (p.Arg742Cys)
|
rs201200462
|
0.00012
|
NM_001199397.3(NEK1):c.397-4A>G
|
rs374280409
|
0.00012
|
NM_001199397.3(NEK1):c.859C>G (p.Pro287Ala)
|
rs35222922
|
0.00012
|
NM_001199397.3(NEK1):c.1278G>A (p.Leu426=)
|
rs752431764
|
0.00011
|
NM_001199397.3(NEK1):c.2067A>G (p.Thr689=)
|
rs757747641
|
0.00011
|
NM_001199397.3(NEK1):c.2500A>T (p.Ser834Cys)
|
rs187263822
|
0.00011
|
NM_001199397.3(NEK1):c.3562C>T (p.Leu1188=)
|
rs184270885
|
0.00011
|
NM_001199397.3(NEK1):c.912T>C (p.Pro304=)
|
rs139433990
|
0.00011
|
NM_001199397.3(NEK1):c.*641T>C
|
rs960594763
|
0.00010
|
NM_001199397.3(NEK1):c.642G>A (p.Lys214=)
|
rs369725706
|
0.00010
|
NM_001199397.3(NEK1):c.2375G>A (p.Gly792Asp)
|
rs200643637
|
0.00009
|
NM_001199397.3(NEK1):c.2421C>T (p.Phe807=)
|
rs56346829
|
0.00009
|
NM_001199397.3(NEK1):c.3107C>G (p.Ser1036Ter)
|
rs199947197
|
0.00009
|
NM_001199397.3(NEK1):c.725A>T (p.Asn242Ile)
|
rs562597839
|
0.00009
|
NM_001199397.3(NEK1):c.1080+20G>A
|
rs192292678
|
0.00008
|
NM_001199397.3(NEK1):c.1080+4T>C
|
rs757527637
|
0.00008
|
NM_001199397.3(NEK1):c.1750-6T>C
|
rs187716707
|
0.00008
|
NM_001199397.3(NEK1):c.1140+4G>A
|
rs369300755
|
0.00007
|
NM_001199397.3(NEK1):c.1942A>G (p.Lys648Glu)
|
rs371562840
|
0.00007
|
NM_001199397.3(NEK1):c.3093A>G (p.Gln1031=)
|
rs760811823
|
0.00007
|
NM_001199397.3(NEK1):c.2896A>G (p.Arg966Gly)
|
rs369918838
|
0.00006
|
NM_001199397.3(NEK1):c.3437G>A (p.Arg1146Lys)
|
rs751475605
|
0.00006
|
NM_001199397.3(NEK1):c.3750T>C (p.Ile1250=)
|
rs886059225
|
0.00006
|
NM_001199397.3(NEK1):c.481C>T (p.Arg161Ter)
|
rs202115635
|
0.00006
|
NM_001199397.3(NEK1):c.551+9A>G
|
rs1469377437
|
0.00006
|
NM_001199397.3(NEK1):c.695G>A (p.Arg232His)
|
rs772747361
|
0.00006
|
NM_001199397.3(NEK1):c.-499G>C
|
rs763112279
|
0.00005
|
NM_001199397.3(NEK1):c.1427A>G (p.Glu476Gly)
|
rs765781871
|
0.00005
|
NM_001199397.3(NEK1):c.2045C>T (p.Pro682Leu)
|
rs779634939
|
0.00005
|
NM_001199397.3(NEK1):c.2225G>A (p.Arg742His)
|
rs778982890
|
0.00005
|
NM_001199397.3(NEK1):c.465-3T>C
|
rs760376432
|
0.00005
|
NM_001199397.3(NEK1):c.1021-8T>C
|
rs748957277
|
0.00004
|
NM_001199397.3(NEK1):c.1080G>C (p.Glu360Asp)
|
rs765591688
|
0.00004
|
NM_001199397.3(NEK1):c.1226G>A (p.Trp409Ter)
|
rs985064686
|
0.00004
|
NM_001199397.3(NEK1):c.1728G>A (p.Lys576=)
|
rs776189543
|
0.00004
|
NM_001199397.3(NEK1):c.1789T>A (p.Phe597Ile)
|
rs776098853
|
0.00004
|
NM_001199397.3(NEK1):c.2587+14G>T
|
rs368032168
|
0.00004
|
NM_001199397.3(NEK1):c.3129T>C (p.Phe1043=)
|
rs764822486
|
0.00004
|
NM_001199397.3(NEK1):c.3135T>C (p.Ser1045=)
|
rs370713361
|
0.00004
|
NM_001199397.3(NEK1):c.3140C>T (p.Ser1047Leu)
|
rs377607698
|
0.00004
|
NM_001199397.3(NEK1):c.3622G>A (p.Asp1208Asn)
|
rs35503975
|
0.00004
|
NM_001199397.3(NEK1):c.3715-6G>C
|
rs771507979
|
0.00004
|
NM_001199397.3(NEK1):c.*1062A>G
|
rs1057222414
|
0.00003
|
NM_001199397.3(NEK1):c.*835A>G
|
rs886059222
|
0.00003
|
NM_001199397.3(NEK1):c.-532A>G
|
rs532947272
|
0.00003
|
NM_001199397.3(NEK1):c.1063A>G (p.Arg355Gly)
|
rs35763578
|
0.00003
|
NM_001199397.3(NEK1):c.1081-8T>A
|
rs747743441
|
0.00003
|
NM_001199397.3(NEK1):c.1424C>G (p.Pro475Arg)
|
rs369081861
|
0.00003
|
NM_001199397.3(NEK1):c.1500T>C (p.Ala500=)
|
rs776664093
|
0.00003
|
NM_001199397.3(NEK1):c.1793A>G (p.Asn598Ser)
|
rs61735896
|
0.00003
|
NM_001199397.3(NEK1):c.192C>T (p.Val64=)
|
rs777436964
|
0.00003
|
NM_001199397.3(NEK1):c.2136C>T (p.Gly712=)
|
rs760404694
|
0.00003
|
NM_001199397.3(NEK1):c.2294A>G (p.Glu765Gly)
|
rs886059231
|
0.00003
|
NM_001199397.3(NEK1):c.2353C>T (p.Arg785Cys)
|
rs374639577
|
0.00003
|
NM_001199397.3(NEK1):c.2815A>G (p.Lys939Glu)
|
rs370930011
|
0.00003
|
NM_001199397.3(NEK1):c.2886G>A (p.Gln962=)
|
rs770250819
|
0.00003
|
NM_001199397.3(NEK1):c.2999A>C (p.His1000Pro)
|
rs886059228
|
0.00003
|
NM_001199397.3(NEK1):c.379C>T (p.Arg127Ter)
|
rs387906890
|
0.00003
|
NM_001199397.3(NEK1):c.426A>G (p.Val142=)
|
rs200769726
|
0.00003
|
NM_001199397.3(NEK1):c.450T>C (p.Ala150=)
|
rs1473425427
|
0.00003
|
NM_001199397.3(NEK1):c.1030A>G (p.Thr344Ala)
|
rs780547342
|
0.00002
|
NM_001199397.3(NEK1):c.1648C>T (p.Arg550Ter)
|
rs371575563
|
0.00002
|
NM_001199397.3(NEK1):c.1663A>G (p.Met555Val)
|
rs766596184
|
0.00002
|
NM_001199397.3(NEK1):c.214+1G>A
|
rs1049502301
|
0.00002
|
NM_001199397.3(NEK1):c.2306A>G (p.His769Arg)
|
rs375173827
|
0.00002
|
NM_001199397.3(NEK1):c.2361G>A (p.Lys787=)
|
rs886042457
|
0.00002
|
NM_001199397.3(NEK1):c.2765-5T>G
|
rs201755208
|
0.00002
|
NM_001199397.3(NEK1):c.3301C>T (p.Arg1101Cys)
|
rs759413316
|
0.00002
|
NM_001199397.3(NEK1):c.3586A>G (p.Asn1196Asp)
|
rs1249604313
|
0.00002
|
NM_001199397.3(NEK1):c.3612A>G (p.Glu1204=)
|
rs376870683
|
0.00002
|
NM_001199397.3(NEK1):c.3809T>G (p.Ile1270Ser)
|
rs778919560
|
0.00002
|
NM_001199397.3(NEK1):c.464+6A>G
|
rs550184264
|
0.00002
|
NM_001199397.3(NEK1):c.591T>C (p.Cys197=)
|
rs755160503
|
0.00002
|
NM_001199397.3(NEK1):c.99G>A (p.Lys33=)
|
rs758301993
|
0.00002
|
NM_001199397.3(NEK1):c.*1155A>G
|
rs1211514050
|
0.00001
|
NM_001199397.3(NEK1):c.*537T>G
|
rs1194523176
|
0.00001
|
NM_001199397.3(NEK1):c.*806G>A
|
rs886059223
|
0.00001
|
NM_001199397.3(NEK1):c.-441C>T
|
rs886059236
|
0.00001
|
NM_001199397.3(NEK1):c.1028A>G (p.Gln343Arg)
|
rs184254879
|
0.00001
|
NM_001199397.3(NEK1):c.1122A>C (p.Glu374Asp)
|
rs992324423
|
0.00001
|
NM_001199397.3(NEK1):c.1129C>T (p.Gln377Ter)
|
rs1482234746
|
0.00001
|
NM_001199397.3(NEK1):c.1141-14T>C
|
rs551259813
|
0.00001
|
NM_001199397.3(NEK1):c.1206T>G (p.Asn402Lys)
|
rs754999219
|
0.00001
|
NM_001199397.3(NEK1):c.1305A>G (p.Ser435=)
|
rs765909757
|
0.00001
|
NM_001199397.3(NEK1):c.1335T>C (p.His445=)
|
rs776957816
|
0.00001
|
NM_001199397.3(NEK1):c.1356A>G (p.Gln452=)
|
rs529848109
|
0.00001
|
NM_001199397.3(NEK1):c.1420C>T (p.Leu474Phe)
|
rs1182459740
|
0.00001
|
NM_001199397.3(NEK1):c.1430+9A>G
|
rs762293665
|
0.00001
|
NM_001199397.3(NEK1):c.1477G>C (p.Gly493Arg)
|
rs997165654
|
0.00001
|
NM_001199397.3(NEK1):c.1535C>T (p.Ala512Val)
|
rs771824152
|
0.00001
|
NM_001199397.3(NEK1):c.1538T>C (p.Val513Ala)
|
rs1217426330
|
0.00001
|
NM_001199397.3(NEK1):c.1618C>T (p.Arg540Ter)
|
rs758677637
|
0.00001
|
NM_001199397.3(NEK1):c.1625G>A (p.Arg542Gln)
|
rs1032792680
|
0.00001
|
NM_001199397.3(NEK1):c.1822C>T (p.Arg608Cys)
|
rs749461218
|
0.00001
|
NM_001199397.3(NEK1):c.1875G>A (p.Glu625=)
|
rs777616611
|
0.00001
|
NM_001199397.3(NEK1):c.1912-18A>C
|
rs766962190
|
0.00001
|
NM_001199397.3(NEK1):c.1936G>A (p.Val646Ile)
|
rs202231017
|
0.00001
|
NM_001199397.3(NEK1):c.1957C>T (p.Arg653Ter)
|
rs773156346
|
0.00001
|
NM_001199397.3(NEK1):c.2023G>A (p.Val675Ile)
|
rs748009791
|
0.00001
|
NM_001199397.3(NEK1):c.2035G>A (p.Asp679Asn)
|
rs1184211163
|
0.00001
|
NM_001199397.3(NEK1):c.2068G>A (p.Gly690Ser)
|
rs754295018
|
0.00001
|
NM_001199397.3(NEK1):c.2085G>A (p.Lys695=)
|
rs1439761503
|
0.00001
|
NM_001199397.3(NEK1):c.2093T>C (p.Met698Thr)
|
rs577165880
|
0.00001
|
NM_001199397.3(NEK1):c.2162G>A (p.Arg721Gln)
|
rs370106222
|
0.00001
|
NM_001199397.3(NEK1):c.2251C>G (p.Gln751Glu)
|
rs752582295
|
0.00001
|
NM_001199397.3(NEK1):c.2392C>G (p.Leu798Val)
|
rs1131690778
|
0.00001
|
NM_001199397.3(NEK1):c.2408T>C (p.Leu803Pro)
|
rs1162454954
|
0.00001
|
NM_001199397.3(NEK1):c.2562A>C (p.Leu854=)
|
rs773387212
|
0.00001
|
NM_001199397.3(NEK1):c.2588-2A>G
|
rs201769828
|
0.00001
|
NM_001199397.3(NEK1):c.2594C>A (p.Ser865Tyr)
|
rs1373992801
|
0.00001
|
NM_001199397.3(NEK1):c.264G>A (p.Leu88=)
|
rs780568580
|
0.00001
|
NM_001199397.3(NEK1):c.2726C>G (p.Ser909Cys)
|
rs543224510
|
0.00001
|
NM_001199397.3(NEK1):c.2991T>G (p.Asp997Glu)
|
rs752555915
|
0.00001
|
NM_001199397.3(NEK1):c.2991_2992insG (p.Ser998fs)
|
rs763310804
|
0.00001
|
NM_001199397.3(NEK1):c.3054G>C (p.Val1018=)
|
rs142337223
|
0.00001
|
NM_001199397.3(NEK1):c.3075C>T (p.Asn1025=)
|
rs886059227
|
0.00001
|
NM_001199397.3(NEK1):c.3148C>T (p.Pro1050Ser)
|
rs749326267
|
0.00001
|
NM_001199397.3(NEK1):c.3222+7A>G
|
rs756853265
|
0.00001
|
NM_001199397.3(NEK1):c.3240A>G (p.Ser1080=)
|
rs772027178
|
0.00001
|
NM_001199397.3(NEK1):c.3295G>C (p.Asp1099His)
|
rs765205496
|
0.00001
|
NM_001199397.3(NEK1):c.3354A>C (p.Gly1118=)
|
rs758692344
|
0.00001
|
NM_001199397.3(NEK1):c.3375-12T>C
|
rs1369688897
|
0.00001
|
NM_001199397.3(NEK1):c.3405A>G (p.Gln1135=)
|
rs774338352
|
0.00001
|
NM_001199397.3(NEK1):c.3559G>A (p.Ala1187Thr)
|
rs772991635
|
0.00001
|
NM_001199397.3(NEK1):c.3583+19G>A
|
rs779325354
|
0.00001
|
NM_001199397.3(NEK1):c.3664G>A (p.Glu1222Lys)
|
rs1219156888
|
0.00001
|
NM_001199397.3(NEK1):c.368A>C (p.Lys123Thr)
|
rs1561472203
|
0.00001
|
NM_001199397.3(NEK1):c.3793C>T (p.His1265Tyr)
|
rs747009789
|
0.00001
|
NM_001199397.3(NEK1):c.3830A>G (p.Asp1277Gly)
|
rs1157065841
|
0.00001
|
NM_001199397.3(NEK1):c.3847+6A>G
|
rs777525553
|
0.00001
|
NM_001199397.3(NEK1):c.418G>A (p.Gly140Arg)
|
rs1301705612
|
0.00001
|
NM_001199397.3(NEK1):c.460A>T (p.Asn154Tyr)
|
rs756418625
|
0.00001
|
NM_001199397.3(NEK1):c.468T>C (p.Thr156=)
|
rs774944690
|
0.00001
|
NM_001199397.3(NEK1):c.551+12G>T
|
rs1237824437
|
0.00001
|
NM_001199397.3(NEK1):c.552-13T>C
|
rs1350487916
|
0.00001
|
NM_001199397.3(NEK1):c.641A>G (p.Lys214Arg)
|
rs1309738215
|
0.00001
|
NM_001199397.3(NEK1):c.781C>T (p.Arg261Cys)
|
rs191859401
|
0.00001
|
NM_001199397.3(NEK1):c.807+16T>C
|
rs918992197
|
0.00001
|
NM_001199397.3(NEK1):c.807+8C>A
|
rs1240742692
|
0.00001
|
NM_001199397.3(NEK1):c.80G>A (p.Gly27Asp)
|
rs1419433113
|
0.00001
|
NM_001199397.3(NEK1):c.868+1G>C
|
rs897732893
|
0.00001
|
NM_001199397.3(NEK1):c.868+20A>G
|
rs992277540
|
0.00001
|
NM_001199397.3(NEK1):c.869-1G>T
|
rs794727032
|
0.00001
|
NM_001199397.3(NEK1):c.87G>A (p.Gln29=)
|
rs1018152335
|
0.00001
|
NM_001199397.3(NEK1):c.896C>T (p.Ser299Leu)
|
rs201587614
|
0.00001
|
NM_001199397.3(NEK1):c.937G>A (p.Ala313Thr)
|
rs775516158
|
0.00001
|
NM_001199397.3(NEK1):c.966G>C (p.Lys322Asn)
|
rs1419138752
|
0.00001
|
NC_000004.11:g.(?_170482611)_(170483367_?)del
|
|
|
NC_000004.11:g.(?_170482611)_(170523781_?)dup
|
|
|
NM_001199397.3(NEK1):c.*354A>T
|
rs1730320778
|
|
NM_001199397.3(NEK1):c.*758T>A
|
rs1730272463
|
|
NM_001199397.3(NEK1):c.-275A>G
|
rs546452146
|
|
NM_001199397.3(NEK1):c.1017A>G (p.Lys339=)
|
rs563173673
|
|
NM_001199397.3(NEK1):c.1020+1G>A
|
|
|
NM_001199397.3(NEK1):c.1020+20C>T
|
|
|
NM_001199397.3(NEK1):c.1020+4T>C
|
|
|
NM_001199397.3(NEK1):c.1021-15T>G
|
|
|
NM_001199397.3(NEK1):c.1029A>G (p.Gln343=)
|
|
|
NM_001199397.3(NEK1):c.1066A>T (p.Arg356Trp)
|
|
|
NM_001199397.3(NEK1):c.1075T>A (p.Ser359Thr)
|
|
|
NM_001199397.3(NEK1):c.1080+3A>G
|
|
|
NM_001199397.3(NEK1):c.1081-6_1081-3del
|
rs751377061
|
|
NM_001199397.3(NEK1):c.1081-7dup
|
|
|
NM_001199397.3(NEK1):c.1081-8dup
|
rs398124255
|
|
NM_001199397.3(NEK1):c.1097_1098del (p.Arg366fs)
|
|
|
NM_001199397.3(NEK1):c.1107A>G (p.Glu369=)
|
|
|
NM_001199397.3(NEK1):c.1126A>G (p.Lys376Glu)
|
|
|
NM_001199397.3(NEK1):c.1140+3A>C
|
|
|
NM_001199397.3(NEK1):c.1142T>A (p.Ile381Asn)
|
|
|
NM_001199397.3(NEK1):c.1149T>C (p.Ser383=)
|
|
|
NM_001199397.3(NEK1):c.114A>G (p.Ser38=)
|
rs778749876
|
|
NM_001199397.3(NEK1):c.1161_1162insC (p.Glu388fs)
|
|
|
NM_001199397.3(NEK1):c.117+1G>A
|
rs794727285
|
|
NM_001199397.3(NEK1):c.1177C>T (p.Gln393Ter)
|
|
|
NM_001199397.3(NEK1):c.1179A>G (p.Gln393=)
|
|
|
NM_001199397.3(NEK1):c.118-1G>A
|
|
|
NM_001199397.3(NEK1):c.1187A>G (p.Glu396Gly)
|
|
|
NM_001199397.3(NEK1):c.1191+13T>C
|
|
|
NM_001199397.3(NEK1):c.1191+20A>C
|
|
|
NM_001199397.3(NEK1):c.1191+5G>A
|
|
|
NM_001199397.3(NEK1):c.1191+8G>A
|
|
|
NM_001199397.3(NEK1):c.1192-13C>G
|
|
|
NM_001199397.3(NEK1):c.1192-6C>T
|
|
|
NM_001199397.3(NEK1):c.1198del (p.Arg400fs)
|
|
|
NM_001199397.3(NEK1):c.1208G>A (p.Arg403Lys)
|
|
|
NM_001199397.3(NEK1):c.120G>A (p.Met40Ile)
|
|
|
NM_001199397.3(NEK1):c.1233T>C (p.Asn411=)
|
rs886059234
|
|
NM_001199397.3(NEK1):c.1238T>C (p.Leu413Pro)
|
rs755724871
|
|
NM_001199397.3(NEK1):c.1242T>C (p.Ser414=)
|
|
|
NM_001199397.3(NEK1):c.1243G>A (p.Ala415Thr)
|
|
|
NM_001199397.3(NEK1):c.1249G>A (p.Gly417Arg)
|
|
|
NM_001199397.3(NEK1):c.1266+18A>G
|
|
|
NM_001199397.3(NEK1):c.1266+20A>G
|
|
|
NM_001199397.3(NEK1):c.1267-11T>G
|
|
|
NM_001199397.3(NEK1):c.1287A>G (p.Gly429=)
|
|
|
NM_001199397.3(NEK1):c.1287A>T (p.Gly429=)
|
|
|
NM_001199397.3(NEK1):c.1294A>G (p.Ile432Val)
|
|
|
NM_001199397.3(NEK1):c.1301C>A (p.Pro434Gln)
|
|
|
NM_001199397.3(NEK1):c.1319G>A (p.Arg440Gln)
|
|
|
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)
|
rs574204412
|
|
NM_001199397.3(NEK1):c.1352A>G (p.Asp451Gly)
|
|
|
NM_001199397.3(NEK1):c.1395G>A (p.Trp465Ter)
|
|
|
NM_001199397.3(NEK1):c.1412G>A (p.Gly471Asp)
|
rs1418453971
|
|
NM_001199397.3(NEK1):c.1429A>G (p.Arg477Gly)
|
|
|
NM_001199397.3(NEK1):c.1430+10T>C
|
|
|
NM_001199397.3(NEK1):c.1430+13_1430+14insA
|
rs2149909733
|
|
NM_001199397.3(NEK1):c.1430+19_1430+20delinsAG
|
|
|
NM_001199397.3(NEK1):c.1438C>G (p.Leu480Val)
|
|
|
NM_001199397.3(NEK1):c.1450C>G (p.Arg484Gly)
|
rs183378326
|
|
NM_001199397.3(NEK1):c.1450C>T (p.Arg484Cys)
|
|
|
NM_001199397.3(NEK1):c.1451G>A (p.Arg484His)
|
rs201793759
|
|
NM_001199397.3(NEK1):c.1463C>T (p.Pro488Leu)
|
|
|
NM_001199397.3(NEK1):c.1469G>A (p.Gly490Glu)
|
|
|
NM_001199397.3(NEK1):c.1476A>C (p.Ala492=)
|
rs1322917520
|
|
NM_001199397.3(NEK1):c.1478G>A (p.Gly493Asp)
|
|
|
NM_001199397.3(NEK1):c.1482T>C (p.His494=)
|
rs1580735647
|
|
NM_001199397.3(NEK1):c.1496A>T (p.Asp499Val)
|
rs1762076570
|
|
NM_001199397.3(NEK1):c.1509T>G (p.Ile503Met)
|
|
|
NM_001199397.3(NEK1):c.1520T>C (p.Leu507Ser)
|
|
|
NM_001199397.3(NEK1):c.1553A>C (p.Asn518Thr)
|
|
|
NM_001199397.3(NEK1):c.1553A>G (p.Asn518Ser)
|
|
|
NM_001199397.3(NEK1):c.1562+20T>G
|
rs2149908317
|
|
NM_001199397.3(NEK1):c.1562+2T>G
|
|
|
NM_001199397.3(NEK1):c.1573C>A (p.Gln525Lys)
|
|
|
NM_001199397.3(NEK1):c.1583_1584dup (p.Glu529Ter)
|
rs1758763118
|
|
NM_001199397.3(NEK1):c.1606G>T (p.Glu536Ter)
|
|
|
NM_001199397.3(NEK1):c.1633A>T (p.Met545Leu)
|
rs1369670600
|
|
NM_001199397.3(NEK1):c.1634T>C (p.Met545Thr)
|
|
|
NM_001199397.3(NEK1):c.1634T>G (p.Met545Arg)
|
|
|
NM_001199397.3(NEK1):c.1639A>G (p.Asn547Asp)
|
|
|
NM_001199397.3(NEK1):c.1640dup (p.Asn547fs)
|
rs483352907
|
|
NM_001199397.3(NEK1):c.1649G>A (p.Arg550Gln)
|
rs767374907
|
|
NM_001199397.3(NEK1):c.1690_1691del (p.Met564fs)
|
rs786205645
|
|
NM_001199397.3(NEK1):c.1753T>C (p.Tyr585His)
|
|
|
NM_001199397.3(NEK1):c.1767G>A (p.Leu589=)
|
|
|
NM_001199397.3(NEK1):c.1769_1770del (p.Arg590fs)
|
rs1554053289
|
|
NM_001199397.3(NEK1):c.1787A>G (p.Asn596Ser)
|
|
|
NM_001199397.3(NEK1):c.1797G>A (p.Glu599=)
|
|
|
NM_001199397.3(NEK1):c.1798C>T (p.Arg600Cys)
|
|
|
NM_001199397.3(NEK1):c.1800C>T (p.Arg600=)
|
|
|
NM_001199397.3(NEK1):c.1816A>G (p.Lys606Glu)
|
|
|
NM_001199397.3(NEK1):c.1821T>C (p.Leu607=)
|
|
|
NM_001199397.3(NEK1):c.1823G>A (p.Arg608His)
|
|
|
NM_001199397.3(NEK1):c.1829_1830delinsGG (p.Glu610Gly)
|
|
|
NM_001199397.3(NEK1):c.1833+19T>C
|
|
|
NM_001199397.3(NEK1):c.1833+1G>T
|
|
|
NM_001199397.3(NEK1):c.1834-11T>A
|
|
|
NM_001199397.3(NEK1):c.1834-17del
|
|
|
NM_001199397.3(NEK1):c.183A>G (p.Pro61=)
|
|
|
NM_001199397.3(NEK1):c.1843A>G (p.Asn615Asp)
|
|
|
NM_001199397.3(NEK1):c.1847A>G (p.His616Arg)
|
rs886059233
|
|
NM_001199397.3(NEK1):c.1868del (p.Ser623fs)
|
rs1362848762
|
|
NM_001199397.3(NEK1):c.1888C>T (p.Arg630Cys)
|
|
|
NM_001199397.3(NEK1):c.1889G>A (p.Arg630His)
|
|
|
NM_001199397.3(NEK1):c.1899C>T (p.Ile633=)
|
|
|
NM_001199397.3(NEK1):c.1900G>A (p.Glu634Lys)
|
|
|
NM_001199397.3(NEK1):c.1905A>G (p.Ser635=)
|
|
|
NM_001199397.3(NEK1):c.1911+19dup
|
|
|
NM_001199397.3(NEK1):c.1911+20C>A
|
|
|
NM_001199397.3(NEK1):c.1911+20C>T
|
|
|
NM_001199397.3(NEK1):c.1911+3A>G
|
|
|
NM_001199397.3(NEK1):c.1911+6G>C
|
|
|
NM_001199397.3(NEK1):c.1911G>A (p.Lys637=)
|
|
|
NM_001199397.3(NEK1):c.1912-5T>C
|
|
|
NM_001199397.3(NEK1):c.1916A>C (p.His639Pro)
|
rs1295340811
|
|
NM_001199397.3(NEK1):c.1942_1944delinsGGG (p.Lys648Gly)
|
|
|
NM_001199397.3(NEK1):c.1944A>G (p.Lys648=)
|
|
|
NM_001199397.3(NEK1):c.1945_1951del (p.Lys648_Glu649insTer)
|
|
|
NM_001199397.3(NEK1):c.1948C>A (p.Gln650Lys)
|
rs1753405258
|
|
NM_001199397.3(NEK1):c.194A>G (p.Gln65Arg)
|
rs1770585618
|
|
NM_001199397.3(NEK1):c.1950A>G (p.Gln650=)
|
|
|
NM_001199397.3(NEK1):c.1952T>G (p.Leu651Arg)
|
|
|
NM_001199397.3(NEK1):c.1958G>A (p.Arg653Gln)
|
|
|
NM_001199397.3(NEK1):c.1961A>T (p.Lys654Met)
|
rs767789905
|
|
NM_001199397.3(NEK1):c.1967AGG[1] (p.Glu657del)
|
|
|
NM_001199397.3(NEK1):c.1984dup (p.Glu662fs)
|
rs2149690411
|
|
NM_001199397.3(NEK1):c.1992del (p.Val665fs)
|
rs775849720
|
|
NM_001199397.3(NEK1):c.1995G>A (p.Val665=)
|
|
|
NM_001199397.3(NEK1):c.2008-5T>A
|
|
|
NM_001199397.3(NEK1):c.2010_2011del (p.Leu670fs)
|
|
|
NM_001199397.3(NEK1):c.2042C>T (p.Ser681Phe)
|
|
|
NM_001199397.3(NEK1):c.2060A>G (p.His687Arg)
|
|
|
NM_001199397.3(NEK1):c.2089C>T (p.Gln697Ter)
|
rs2149558070
|
|
NM_001199397.3(NEK1):c.2096G>A (p.Arg699Lys)
|
rs558787593
|
|
NM_001199397.3(NEK1):c.2110G>A (p.Val704Ile)
|
|
|
NM_001199397.3(NEK1):c.2125A>G (p.Lys709Glu)
|
|
|
NM_001199397.3(NEK1):c.2126A>G (p.Lys709Arg)
|
|
|
NM_001199397.3(NEK1):c.2137G>T (p.Val713Leu)
|
rs199827465
|
|
NM_001199397.3(NEK1):c.213del (p.Glu72fs)
|
rs2150139071
|
|
NM_001199397.3(NEK1):c.214+16C>T
|
|
|
NM_001199397.3(NEK1):c.2140-14A>G
|
|
|
NM_001199397.3(NEK1):c.2146A>G (p.Ser716Gly)
|
|
|
NM_001199397.3(NEK1):c.215-4G>A
|
|
|
NM_001199397.3(NEK1):c.2161C>G (p.Arg721Gly)
|
rs201726561
|
|
NM_001199397.3(NEK1):c.2161C>T (p.Arg721Trp)
|
rs201726561
|
|
NM_001199397.3(NEK1):c.2163G>A (p.Arg721=)
|
|
|
NM_001199397.3(NEK1):c.2190del (p.Asn731fs)
|
rs746591648
|
|
NM_001199397.3(NEK1):c.2193C>T (p.Asn731=)
|
rs2149550010
|
|
NM_001199397.3(NEK1):c.2194A>G (p.Asn732Asp)
|
|
|
NM_001199397.3(NEK1):c.2200A>G (p.Ile734Val)
|
|
|
NM_001199397.3(NEK1):c.2206-11G>A
|
|
|
NM_001199397.3(NEK1):c.2206-12C>T
|
|
|
NM_001199397.3(NEK1):c.2206-12_2206-10del
|
|
|
NM_001199397.3(NEK1):c.2213G>A (p.Arg738Gln)
|
|
|
NM_001199397.3(NEK1):c.2243T>G (p.Leu748Arg)
|
|
|
NM_001199397.3(NEK1):c.2282_2283del (p.Leu760_Ser761insTer)
|
rs750159428
|
|
NM_001199397.3(NEK1):c.2282_2283dup (p.Asp762fs)
|
|
|
NM_001199397.3(NEK1):c.2310A>C (p.Glu770Asp)
|
|
|
NM_001199397.3(NEK1):c.2323C>T (p.His775Tyr)
|
|
|
NM_001199397.3(NEK1):c.2344T>G (p.Ser782Ala)
|
|
|
NM_001199397.3(NEK1):c.2354G>A (p.Arg785His)
|
|
|
NM_001199397.3(NEK1):c.2358G>A (p.Lys786=)
|
|
|
NM_001199397.3(NEK1):c.2371G>A (p.Gly791Arg)
|
|
|
NM_001199397.3(NEK1):c.238A>G (p.Met80Val)
|
rs1770058884
|
|
NM_001199397.3(NEK1):c.2390C>T (p.Pro797Leu)
|
|
|
NM_001199397.3(NEK1):c.2415A>T (p.Thr805=)
|
|
|
NM_001199397.3(NEK1):c.2434+10G>T
|
|
|
NM_001199397.3(NEK1):c.2435-15A>G
|
|
|
NM_001199397.3(NEK1):c.2435-16T>C
|
|
|
NM_001199397.3(NEK1):c.2435-3T>C
|
|
|
NM_001199397.3(NEK1):c.2435-4A>G
|
rs886059230
|
|
NM_001199397.3(NEK1):c.2435-8T>C
|
rs2149501678
|
|
NM_001199397.3(NEK1):c.2436A>G (p.Arg812=)
|
|
|
NM_001199397.3(NEK1):c.2438A>G (p.His813Arg)
|
|
|
NM_001199397.3(NEK1):c.244T>A (p.Tyr82Asn)
|
rs1017114230
|
|
NM_001199397.3(NEK1):c.2451A>G (p.Glu817=)
|
rs914051271
|
|
NM_001199397.3(NEK1):c.2489C>T (p.Ala830Val)
|
|
|
NM_001199397.3(NEK1):c.2505G>A (p.Pro835=)
|
|
|
NM_001199397.3(NEK1):c.2532A>G (p.Gly844=)
|
|
|
NM_001199397.3(NEK1):c.257G>A (p.Gly86Glu)
|
|
|
NM_001199397.3(NEK1):c.2587+16T>C
|
|
|
NM_001199397.3(NEK1):c.2587+18G>T
|
|
|
NM_001199397.3(NEK1):c.2587+3A>G
|
|
|
NM_001199397.3(NEK1):c.2588-12_2588-11del
|
rs374055570
|
|
NM_001199397.3(NEK1):c.2588-4A>C
|
|
|
NM_001199397.3(NEK1):c.2599G>A (p.Glu867Lys)
|
|
|
NM_001199397.3(NEK1):c.2650_2651insCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTACAATGTA (p.Cys883_Ile884insThrCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerGlyAspArgAspHisProXaaXaaXaaXaaLysLysLysLysLysLysLysLysLysValGlnCys)
|
|
|
NM_001199397.3(NEK1):c.2715C>G (p.Phe905Leu)
|
rs2149425544
|
|
NM_001199397.3(NEK1):c.2725T>A (p.Ser909Thr)
|
|
|
NM_001199397.3(NEK1):c.2736G>A (p.Met912Ile)
|
|
|
NM_001199397.3(NEK1):c.2764+11A>G
|
|
|
NM_001199397.3(NEK1):c.2764+12T>C
|
|
|
NM_001199397.3(NEK1):c.2765-15G>A
|
|
|
NM_001199397.3(NEK1):c.2765-16C>T
|
rs746322641
|
|
NM_001199397.3(NEK1):c.2765-17dup
|
rs1737847989
|
|
NM_001199397.3(NEK1):c.2771A>G (p.Asp924Gly)
|
|
|
NM_001199397.3(NEK1):c.2796A>G (p.Gln932=)
|
|
|
NM_001199397.3(NEK1):c.2797G>A (p.Glu933Lys)
|
rs1482298810
|
|
NM_001199397.3(NEK1):c.2814_2817del (p.Asn938fs)
|
rs752878896
|
|
NM_001199397.3(NEK1):c.2825G>A (p.Ser942Asn)
|
rs2149410432
|
|
NM_001199397.3(NEK1):c.2886-1G>A
|
rs773496891
|
|
NM_001199397.3(NEK1):c.2894A>T (p.Asp965Val)
|
rs2111355616
|
|
NM_001199397.3(NEK1):c.2939C>T (p.Ser980Leu)
|
|
|
NM_001199397.3(NEK1):c.2972_2973del (p.Ile991fs)
|
rs2111354717
|
|
NM_001199397.3(NEK1):c.2974+11T>C
|
rs886059229
|
|
NM_001199397.3(NEK1):c.2974+1G>T
|
rs1561165983
|
|
NM_001199397.3(NEK1):c.2974+5G>A
|
|
|
NM_001199397.3(NEK1):c.2975-14C>T
|
|
|
NM_001199397.3(NEK1):c.3035A>C (p.Glu1012Ala)
|
|
|
NM_001199397.3(NEK1):c.3072G>C (p.Leu1024Phe)
|
|
|
NM_001199397.3(NEK1):c.3081C>A (p.Val1027=)
|
|
|
NM_001199397.3(NEK1):c.3081C>T (p.Val1027=)
|
|
|
NM_001199397.3(NEK1):c.3086A>G (p.Gln1029Arg)
|
|
|
NM_001199397.3(NEK1):c.3092A>G (p.Gln1031Arg)
|
|
|
NM_001199397.3(NEK1):c.309T>A (p.Asp103Glu)
|
|
|
NM_001199397.3(NEK1):c.3102G>T (p.Gln1034His)
|
|
|
NM_001199397.3(NEK1):c.3121T>C (p.Phe1041Leu)
|
|
|
NM_001199397.3(NEK1):c.3141G>A (p.Ser1047=)
|
rs190807750
|
|
NM_001199397.3(NEK1):c.3154A>G (p.Lys1052Glu)
|
|
|
NM_001199397.3(NEK1):c.3191C>G (p.Ser1064Ter)
|
rs2111335168
|
|
NM_001199397.3(NEK1):c.3204T>C (p.Phe1068=)
|
|
|
NM_001199397.3(NEK1):c.3222+15C>A
|
rs1246103461
|
|
NM_001199397.3(NEK1):c.3222+16A>C
|
|
|
NM_001199397.3(NEK1):c.3222+17A>C
|
|
|
NM_001199397.3(NEK1):c.3234A>G (p.Thr1078=)
|
|
|
NM_001199397.3(NEK1):c.3275T>C (p.Met1092Thr)
|
rs1286963475
|
|
NM_001199397.3(NEK1):c.3283C>G (p.Pro1095Ala)
|
|
|
NM_001199397.3(NEK1):c.3289G>A (p.Val1097Ile)
|
rs374890006
|
|
NM_001199397.3(NEK1):c.3289G>C (p.Val1097Leu)
|
rs374890006
|
|
NM_001199397.3(NEK1):c.3302G>A (p.Arg1101His)
|
|
|
NM_001199397.3(NEK1):c.3311A>G (p.Asn1104Ser)
|
|
|
NM_001199397.3(NEK1):c.3315T>C (p.Leu1105=)
|
|
|
NM_001199397.3(NEK1):c.3335A>C (p.Asp1112Ala)
|
|
|
NM_001199397.3(NEK1):c.3335A>G (p.Asp1112Gly)
|
|
|
NM_001199397.3(NEK1):c.3337G>T (p.Glu1113Ter)
|
rs1732670701
|
|
NM_001199397.3(NEK1):c.3342C>T (p.Asn1114=)
|
|
|
NM_001199397.3(NEK1):c.3343A>C (p.Ile1115Leu)
|
|
|
NM_001199397.3(NEK1):c.3374+10A>T
|
|
|
NM_001199397.3(NEK1):c.3374+14C>T
|
rs886059226
|
|
NM_001199397.3(NEK1):c.3374+5G>A
|
rs1167084363
|
|
NM_001199397.3(NEK1):c.3375-10T>A
|
|
|
NM_001199397.3(NEK1):c.3391G>C (p.Asp1131His)
|
rs2111032650
|
|
NM_001199397.3(NEK1):c.3395C>T (p.Thr1132Ile)
|
|
|
NM_001199397.3(NEK1):c.3410T>C (p.Leu1137Pro)
|
rs1554020960
|
|
NM_001199397.3(NEK1):c.3438G>A (p.Arg1146=)
|
|
|
NM_001199397.3(NEK1):c.344C>T (p.Ala115Val)
|
rs1581011769
|
|
NM_001199397.3(NEK1):c.3451G>A (p.Glu1151Lys)
|
rs1064796596
|
|
NM_001199397.3(NEK1):c.3465AGA[2] (p.Glu1158del)
|
|
|
NM_001199397.3(NEK1):c.3468A>G (p.Glu1156=)
|
|
|
NM_001199397.3(NEK1):c.3474G>A (p.Glu1158=)
|
rs758717476
|
|
NM_001199397.3(NEK1):c.3542A>G (p.Asn1181Ser)
|
rs766289659
|
|
NM_001199397.3(NEK1):c.3568G>A (p.Glu1190Lys)
|
|
|
NM_001199397.3(NEK1):c.3579C>T (p.His1193=)
|
|
|
NM_001199397.3(NEK1):c.3581C>A (p.Ser1194Ter)
|
|
|
NM_001199397.3(NEK1):c.3584-11T>C
|
|
|
NM_001199397.3(NEK1):c.3584-19_3584-15del
|
|
|
NM_001199397.3(NEK1):c.3584-20A>C
|
|
|
NM_001199397.3(NEK1):c.3584A>T (p.Asp1195Val)
|
|
|
NM_001199397.3(NEK1):c.3595G>A (p.Gly1199Ser)
|
|
|
NM_001199397.3(NEK1):c.3607A>T (p.Ser1203Cys)
|
|
|
NM_001199397.3(NEK1):c.3710T>C (p.Ile1237Thr)
|
|
|
NM_001199397.3(NEK1):c.3715-12A>G
|
|
|
NM_001199397.3(NEK1):c.3715-7G>A
|
|
|
NM_001199397.3(NEK1):c.3726del (p.Asp1243fs)
|
|
|
NM_001199397.3(NEK1):c.3727G>A (p.Asp1243Asn)
|
|
|
NM_001199397.3(NEK1):c.3727G>T (p.Asp1243Tyr)
|
|
|
NM_001199397.3(NEK1):c.375T>C (p.Leu125=)
|
|
|
NM_001199397.3(NEK1):c.3761_3771del (p.Ile1254fs)
|
rs2111007067
|
|
NM_001199397.3(NEK1):c.3770A>G (p.Asn1257Ser)
|
|
|
NM_001199397.3(NEK1):c.3772A>G (p.Ile1258Val)
|
|
|
NM_001199397.3(NEK1):c.3783T>G (p.Asn1261Lys)
|
|
|
NM_001199397.3(NEK1):c.3794A>G (p.His1265Arg)
|
|
|
NM_001199397.3(NEK1):c.3806A>T (p.Lys1269Met)
|
|
|
NM_001199397.3(NEK1):c.3830A>C (p.Asp1277Ala)
|
rs1157065841
|
|
NM_001199397.3(NEK1):c.3843A>G (p.Gln1281=)
|
|
|
NM_001199397.3(NEK1):c.3847+13C>T
|
|
|
NM_001199397.3(NEK1):c.3847+16_3847+17del
|
|
|
NM_001199397.3(NEK1):c.3848-14dup
|
rs1171520560
|
|
NM_001199397.3(NEK1):c.3850A>G (p.Asn1284Asp)
|
|
|
NM_001199397.3(NEK1):c.396+20A>G
|
|
|
NM_001199397.3(NEK1):c.397-10T>C
|
|
|
NM_001199397.3(NEK1):c.397-15del
|
rs199717920
|
|
NM_001199397.3(NEK1):c.397-15dup
|
rs199717920
|
|
NM_001199397.3(NEK1):c.397-20T>G
|
|
|
NM_001199397.3(NEK1):c.397-5T>C
|
|
|
NM_001199397.3(NEK1):c.433G>A (p.Gly145Arg)
|
rs431905508
|
|
NM_001199397.3(NEK1):c.442G>T (p.Gly148Ter)
|
|
|
NM_001199397.3(NEK1):c.464+19T>G
|
rs2150086593
|
|
NM_001199397.3(NEK1):c.464+8G>A
|
|
|
NM_001199397.3(NEK1):c.465T>C (p.Ser155=)
|
rs1234437874
|
|
NM_001199397.3(NEK1):c.482G>A (p.Arg161Gln)
|
|
|
NM_001199397.3(NEK1):c.488G>C (p.Cys163Ser)
|
|
|
NM_001199397.3(NEK1):c.490A>G (p.Ile164Val)
|
|
|
NM_001199397.3(NEK1):c.514C>T (p.Pro172Ser)
|
rs1554075506
|
|
NM_001199397.3(NEK1):c.52G>A (p.Ala18Thr)
|
|
|
NM_001199397.3(NEK1):c.535C>G (p.Pro179Ala)
|
|
|
NM_001199397.3(NEK1):c.58C>T (p.Leu20Phe)
|
rs2150141098
|
|
NM_001199397.3(NEK1):c.593C>A (p.Thr198Lys)
|
|
|
NM_001199397.3(NEK1):c.599_602del (p.Lys200fs)
|
rs1554075284
|
|
NM_001199397.3(NEK1):c.602del (p.His201fs)
|
rs2150079083
|
|
NM_001199397.3(NEK1):c.604G>T (p.Ala202Ser)
|
rs780091818
|
|
NM_001199397.3(NEK1):c.606+1G>C
|
|
|
NM_001199397.3(NEK1):c.607-16A>T
|
|
|
NM_001199397.3(NEK1):c.644T>G (p.Ile215Arg)
|
|
|
NM_001199397.3(NEK1):c.671C>T (p.Ser224Phe)
|
rs886059235
|
|
NM_001199397.3(NEK1):c.676C>T (p.His226Tyr)
|
|
|
NM_001199397.3(NEK1):c.67T>C (p.Ser23Pro)
|
|
|
NM_001199397.3(NEK1):c.681T>C (p.Tyr227=)
|
|
|
NM_001199397.3(NEK1):c.693C>G (p.Leu231=)
|
|
|
NM_001199397.3(NEK1):c.694C>T (p.Arg232Cys)
|
|
|
NM_001199397.3(NEK1):c.705G>T (p.Val235=)
|
|
|
NM_001199397.3(NEK1):c.715T>G (p.Phe239Val)
|
rs2150071108
|
|
NM_001199397.3(NEK1):c.77A>G (p.Asp26Gly)
|
|
|
NM_001199397.3(NEK1):c.782G>T (p.Arg261Leu)
|
|
|
NM_001199397.3(NEK1):c.807+18T>C
|
|
|
NM_001199397.3(NEK1):c.808-20T>G
|
|
|
NM_001199397.3(NEK1):c.842C>T (p.Ser281Leu)
|
|
|
NM_001199397.3(NEK1):c.843G>A (p.Ser281=)
|
|
|
NM_001199397.3(NEK1):c.869-13T>C
|
|
|
NM_001199397.3(NEK1):c.869-14A>G
|
|
|
NM_001199397.3(NEK1):c.869-2A>G
|
rs483352906
|
|
NM_001199397.3(NEK1):c.869-7C>T
|
|
|
NM_001199397.3(NEK1):c.887G>A (p.Gly296Glu)
|
|
|
NM_001199397.3(NEK1):c.891A>G (p.Gln297=)
|
rs2150034399
|
|
NM_001199397.3(NEK1):c.893del (p.Asn298fs)
|
rs1765802748
|
|
NM_001199397.3(NEK1):c.894C>G (p.Asn298Lys)
|
rs745526568
|
|
NM_001199397.3(NEK1):c.8A>G (p.Lys3Arg)
|
rs2150141268
|
|
NM_001199397.3(NEK1):c.901T>C (p.Ser301Pro)
|
rs777255986
|
|
NM_001199397.3(NEK1):c.904G>C (p.Val302Leu)
|
|
|
NM_001199397.3(NEK1):c.934del (p.Ala312fs)
|
rs2150034070
|
|
NM_001199397.3(NEK1):c.936C>T (p.Ala312=)
|
|
|
NM_001199397.3(NEK1):c.953C>T (p.Pro318Leu)
|
|
|
NM_001199397.3(NEK1):c.984del (p.Lys328fs)
|
rs1432921892
|
|
NM_001199397.3(NEK1):c.990C>T (p.His330=)
|
|
|
NM_001199397.3(NEK1):c.[1226G>A];[1948del]
|
|
|
NM_012224.2(NEK1):c.-614C>A
|
rs10520157
|
|