|
NM_001875.5(CPS1):c.3337-79C>T
|
rs4673540
|
0.99993
|
|
NM_001875.5(CPS1):c.4101+62A>G
|
rs10932347
|
0.94113
|
|
NM_001875.5(CPS1):c.3667-160A>G
|
rs2287598
|
0.76232
|
|
NM_001875.5(CPS1):c.2679C>G (p.Gly893=)
|
rs2287599
|
0.64925
|
|
NM_001875.5(CPS1):c.236+265G>A
|
rs7573258
|
0.62113
|
|
NM_001875.5(CPS1):c.841-182T>C
|
rs2302910
|
0.61104
|
|
NM_001875.5(CPS1):c.1032C>T (p.Thr344=)
|
rs2229589
|
0.59558
|
|
NM_001875.5(CPS1):c.841-243A>G
|
rs2302911
|
0.51166
|
|
NM_001875.5(CPS1):c.1549+268C>T
|
rs12991680
|
0.48586
|
|
NM_001122633.3(CPS1):c.-16+12G>A
|
rs17552879
|
0.43006
|
|
NM_001875.5(CPS1):c.3405-29A>T
|
rs3213784
|
0.37981
|
|
NM_001875.5(CPS1):c.947+323A>G
|
rs6760497
|
0.37596
|
|
NM_001875.5(CPS1):c.*438T>G
|
rs7684
|
0.36145
|
|
NM_001875.5(CPS1):c.4102-476G>A
|
rs11902281
|
0.34176
|
|
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)
|
rs1047891
|
0.33052
|
|
NM_001875.5(CPS1):c.1550-166G>A
|
rs9288418
|
0.31300
|
|
NM_001875.5(CPS1):c.3405-92G>T
|
rs34449727
|
0.29855
|
|
NM_001875.5(CPS1):c.2895+259C>T
|
rs4614865
|
0.28028
|
|
NM_001875.5(CPS1):c.*346T>C
|
rs715
|
0.27930
|
|
NM_001875.5(CPS1):c.4003-207C>T
|
rs2287596
|
0.25340
|
|
NM_001875.5(CPS1):c.3756+45C>T
|
rs6435580
|
0.24723
|
|
NM_001875.5(CPS1):c.*692C>G
|
rs12476133
|
0.24256
|
|
NM_001875.5(CPS1):c.2830-138C>T
|
rs2302908
|
0.24132
|
|
NM_001875.5(CPS1):c.2688-295G>A
|
rs28469042
|
0.23840
|
|
NM_001875.5(CPS1):c.2895+135C>T
|
rs13408918
|
0.23437
|
|
NM_001875.5(CPS1):c.2895+126G>A
|
rs13409110
|
0.22733
|
|
NM_001875.5(CPS1):c.4102-324C>T
|
rs4567871
|
0.22217
|
|
NM_001875.5(CPS1):c.1981+226T>C
|
rs17774535
|
0.15974
|
|
NM_001875.5(CPS1):c.1981+116T>C
|
rs2277909
|
0.12543
|
|
NM_001875.5(CPS1):c.4274+299T>G
|
rs16844788
|
0.10797
|
|
NM_001875.5(CPS1):c.2193-15G>T
|
rs2287600
|
0.09707
|
|
NM_001875.5(CPS1):c.3142-150G>A
|
rs3213785
|
0.08202
|
|
NM_001875.5(CPS1):c.3666+322G>C
|
rs71350740
|
0.07989
|
|
NM_001875.5(CPS1):c.4405-86A>G
|
rs17832175
|
0.07668
|
|
NM_001875.5(CPS1):c.*380C>G
|
rs10932349
|
0.07637
|
|
NM_001875.5(CPS1):c.3404+284C>T
|
rs58927072
|
0.06843
|
|
NM_001875.5(CPS1):c.1708-97A>T
|
rs4420657
|
0.06370
|
|
NM_001875.5(CPS1):c.4102-355T>C
|
rs11886625
|
0.04479
|
|
NM_001875.5(CPS1):c.4002+80T>C
|
rs7567836
|
0.04004
|
|
NM_001875.5(CPS1):c.471+72C>T
|
rs78365831
|
0.03324
|
|
NM_001875.5(CPS1):c.2896-256A>G
|
rs17775057
|
0.03259
|
|
NM_001875.5(CPS1):c.4275-10A>G
|
rs41272673
|
0.03250
|
|
NM_001875.5(CPS1):c.2193-200G>A
|
rs73984647
|
0.02999
|
|
NM_001875.5(CPS1):c.3927+41A>G
|
rs41272671
|
0.02968
|
|
NM_001875.5(CPS1):c.*829T>C
|
rs79296773
|
0.02814
|
|
NM_001875.5(CPS1):c.2568+201A>G
|
rs73073595
|
0.02685
|
|
NM_001875.5(CPS1):c.2569-114A>G
|
rs114764732
|
0.02568
|
|
NM_001875.5(CPS1):c.3142-119G>C
|
rs73076044
|
0.02432
|
|
NM_001875.5(CPS1):c.1360-230G>A
|
rs6743023
|
0.02287
|
|
NM_001875.5(CPS1):c.1708-98C>G
|
rs112393887
|
0.02281
|
|
NM_001875.5(CPS1):c.1165-127C>A
|
rs113132447
|
0.02271
|
|
NM_001122633.3(CPS1):c.-15-179G>A
|
rs6732642
|
0.02261
|
|
NM_001875.5(CPS1):c.126+124G>A
|
rs60586565
|
0.02257
|
|
NM_001875.5(CPS1):c.1360-297C>A
|
rs6742717
|
0.02256
|
|
NM_001875.5(CPS1):c.237-91C>T
|
rs116031642
|
0.02136
|
|
NM_001875.5(CPS1):c.1087-147A>G
|
rs16844641
|
0.02113
|
|
NM_001875.5(CPS1):c.948-241C>T
|
rs76925954
|
0.02108
|
|
NM_001875.5(CPS1):c.2960-166A>G
|
rs114814055
|
0.02057
|
|
NM_001875.5(CPS1):c.2830-18A>G
|
rs116664530
|
0.02055
|
|
NM_001875.5(CPS1):c.4405-132A>T
|
rs77615405
|
0.02011
|
|
NM_001875.5(CPS1):c.3666+66T>C
|
rs114543766
|
0.01936
|
|
NM_001875.5(CPS1):c.*754T>G
|
rs73078125
|
0.01899
|
|
NM_001875.5(CPS1):c.1359+120A>C
|
rs71422703
|
0.01893
|
|
NM_001875.5(CPS1):c.1549+264A>G
|
rs112724994
|
0.01825
|
|
NM_001875.5(CPS1):c.1164+99A>G
|
rs113899268
|
0.01824
|
|
NM_001875.5(CPS1):c.2448C>T (p.Cys816=)
|
rs75395645
|
0.01788
|
|
NM_001875.5(CPS1):c.3927+205C>T
|
rs115644180
|
0.01774
|
|
NM_001875.5(CPS1):c.2391+18T>G
|
rs59741271
|
0.01764
|
|
NM_001875.5(CPS1):c.127-93T>A
|
rs115329306
|
0.01749
|
|
NM_001875.5(CPS1):c.127-98G>T
|
rs114783002
|
0.01749
|
|
NM_001875.5(CPS1):c.1981+207G>A
|
rs115202245
|
0.01745
|
|
NM_001875.5(CPS1):c.711+166A>G
|
rs78980076
|
0.01559
|
|
NM_001875.5(CPS1):c.3558+206A>C
|
rs148794069
|
0.01510
|
|
NM_001875.5(CPS1):c.622-78T>C
|
rs116468978
|
0.01469
|
|
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr)
|
rs76340296
|
0.01465
|
|
NM_001122633.3(CPS1):c.-34G>A
|
rs111491997
|
0.01369
|
|
NM_001875.5(CPS1):c.3481-25G>A
|
rs141998607
|
0.01354
|
|
NM_001122633.3(CPS1):c.-15-338G>T
|
rs75313076
|
0.01343
|
|
NM_001875.5(CPS1):c.1068C>G (p.Val356=)
|
rs34022862
|
0.01287
|
|
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser)
|
rs140578009
|
0.01275
|
|
NM_001875.5(CPS1):c.*946C>T
|
rs139770263
|
0.01212
|
|
NM_001875.5(CPS1):c.2688-142G>A
|
rs140676345
|
0.01171
|
|
NM_001875.5(CPS1):c.2830-159C>G
|
rs139633215
|
0.01154
|
|
NM_001875.5(CPS1):c.2895+136G>A
|
rs139306038
|
0.01147
|
|
NM_001875.5(CPS1):c.3480+88C>A
|
rs142956618
|
0.01002
|
|
NM_001875.5(CPS1):c.3404+151A>G
|
rs116516331
|
0.00992
|
|
NM_001875.5(CPS1):c.2830-83T>G
|
rs115985844
|
0.00980
|
|
NM_001875.5(CPS1):c.4102-419_4102-418del
|
rs139274534
|
0.00927
|
|
NM_001875.5(CPS1):c.1086+113C>T
|
rs114942404
|
0.00924
|
|
NM_001875.5(CPS1):c.471+241C>T
|
rs114245218
|
0.00889
|
|
NM_001875.5(CPS1):c.1359+7G>A
|
rs16844647
|
0.00860
|
|
NM_001875.5(CPS1):c.-29T>G
|
rs147937942
|
0.00830
|
|
NM_001875.5(CPS1):c.2394C>A (p.Val798=)
|
rs35678745
|
0.00828
|
|
NM_001875.5(CPS1):c.947+84T>C
|
rs78693997
|
0.00816
|
|
NM_001875.5(CPS1):c.948-64A>C
|
rs79677229
|
0.00744
|
|
NM_001875.5(CPS1):c.*314T>A
|
rs115293884
|
0.00624
|
|
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=)
|
rs138395129
|
0.00621
|
|
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)
|
rs114819130
|
0.00617
|
|
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met)
|
rs79627159
|
0.00546
|
|
NM_001875.5(CPS1):c.381+281A>G
|
rs147908012
|
0.00516
|
|
NM_001875.5(CPS1):c.-128G>A
|
rs182021022
|
0.00484
|
|
NM_001875.5(CPS1):c.712-16T>C
|
rs187304632
|
0.00456
|
|
NM_001875.5(CPS1):c.3481-8C>T
|
rs41272669
|
0.00424
|
|
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn)
|
rs115897023
|
0.00412
|
|
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn)
|
rs138254425
|
0.00392
|
|
NM_001875.5(CPS1):c.1550-291A>G
|
rs139599445
|
0.00379
|
|
NM_001875.5(CPS1):c.840+42G>C
|
rs149279523
|
0.00373
|
|
NM_001875.5(CPS1):c.*849A>G
|
rs150782174
|
0.00302
|
|
NM_001875.5(CPS1):c.486T>C (p.Tyr162=)
|
rs138779023
|
0.00295
|
|
NM_001875.5(CPS1):c.529-4A>T
|
rs191182348
|
0.00289
|
|
NM_001875.5(CPS1):c.3928-17T>G
|
rs532757361
|
0.00233
|
|
NM_001875.5(CPS1):c.3033G>C (p.Val1011=)
|
rs35374255
|
0.00230
|
|
NM_001875.5(CPS1):c.4102-561T>C
|
rs550848657
|
0.00220
|
|
NM_001875.5(CPS1):c.783C>T (p.Ile261=)
|
rs142468138
|
0.00174
|
|
NM_001875.5(CPS1):c.3928-15T>C
|
rs552764351
|
0.00173
|
|
NM_001875.5(CPS1):c.3558+38C>G
|
rs188757166
|
0.00160
|
|
NM_001875.5(CPS1):c.1630A>T (p.Thr544Ser)
|
rs144230667
|
0.00154
|
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
|
NM_001875.5(CPS1):c.*274G>A
|
rs528584074
|
0.00130
|
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
|
NM_001875.5(CPS1):c.1437G>A (p.Ala479=)
|
rs80261173
|
0.00114
|
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
|
NM_001875.5(CPS1):c.2192+6A>T
|
rs201058019
|
0.00081
|
|
NM_001875.5(CPS1):c.*187C>T
|
rs543723956
|
0.00079
|
|
NM_001875.5(CPS1):c.381+17C>T
|
rs374364413
|
0.00076
|
|
NM_001875.5(CPS1):c.1416T>C (p.Asn472=)
|
rs148204462
|
0.00071
|
|
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)
|
rs142916171
|
0.00065
|
|
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser)
|
rs148584272
|
0.00064
|
|
NM_001875.5(CPS1):c.*427C>T
|
rs111328810
|
0.00062
|
|
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln)
|
rs147294932
|
0.00060
|
|
NM_001875.5(CPS1):c.2025C>T (p.Ala675=)
|
rs143913650
|
0.00058
|
|
NM_001875.5(CPS1):c.195C>T (p.Ser65=)
|
rs192759073
|
0.00054
|
|
NM_001875.5(CPS1):c.529-11T>A
|
rs186719380
|
0.00053
|
|
NM_001875.5(CPS1):c.948-6C>T
|
rs112199960
|
0.00052
|
|
NM_001875.5(CPS1):c.2829+19T>C
|
rs370788477
|
0.00050
|
|
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)
|
rs138424013
|
0.00049
|
|
NM_001875.5(CPS1):c.1707+15dup
|
rs567549478
|
0.00049
|
|
NM_001875.5(CPS1):c.1707+16T>C
|
rs565200384
|
0.00049
|
|
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)
|
rs141481633
|
0.00043
|
|
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)
|
rs368890059
|
0.00040
|
|
NM_001875.5(CPS1):c.2391+20C>T
|
rs376315320
|
0.00039
|
|
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)
|
rs150485422
|
0.00039
|
|
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser)
|
rs142693704
|
0.00035
|
|
NM_001875.5(CPS1):c.1116C>T (p.Phe372=)
|
rs200465544
|
0.00029
|
|
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr)
|
rs150012540
|
0.00027
|
|
NM_001875.5(CPS1):c.1569A>G (p.Arg523=)
|
rs140475976
|
0.00026
|
|
NM_001875.5(CPS1):c.2421G>A (p.Glu807=)
|
rs140726293
|
0.00025
|
|
NM_001875.5(CPS1):c.947+19T>C
|
rs201276852
|
0.00025
|
|
NM_001875.5(CPS1):c.1200A>G (p.Lys400=)
|
rs141545954
|
0.00024
|
|
NM_001875.5(CPS1):c.234A>G (p.Gly78=)
|
rs182678639
|
0.00021
|
|
NM_001875.5(CPS1):c.3481-4A>C
|
rs200229226
|
0.00021
|
|
NM_001875.5(CPS1):c.3927+16A>G
|
rs188145947
|
0.00021
|
|
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)
|
rs150314086
|
0.00021
|
|
NM_001875.5(CPS1):c.4404+4T>A
|
rs199739254
|
0.00020
|
|
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)
|
rs200569046
|
0.00018
|
|
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=)
|
rs150601728
|
0.00017
|
|
NM_001875.5(CPS1):c.*976C>T
|
rs763063376
|
0.00016
|
|
NM_001875.5(CPS1):c.1550-17_1550-13del
|
rs754222806
|
0.00016
|
|
NM_001875.5(CPS1):c.6G>A (p.Thr2=)
|
rs374246990
|
0.00016
|
|
NM_001875.5(CPS1):c.594G>A (p.Gln198=)
|
rs150369462
|
0.00015
|
|
NM_001875.5(CPS1):c.126+18T>A
|
rs201351777
|
0.00014
|
|
NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr)
|
rs139740322
|
0.00014
|
|
NM_001875.5(CPS1):c.2352A>G (p.Thr784=)
|
rs182565798
|
0.00014
|
|
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
|
rs148708735
|
0.00013
|
|
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser)
|
rs201246466
|
0.00013
|
|
NM_001875.5(CPS1):c.*1087T>C
|
rs760593059
|
0.00012
|
|
NM_001875.5(CPS1):c.3537C>T (p.Asp1179=)
|
rs199676680
|
0.00011
|
|
NM_001875.5(CPS1):c.1071C>T (p.Asn357=)
|
rs146683599
|
0.00010
|
|
NM_001875.5(CPS1):c.186C>T (p.Gly62=)
|
rs529836556
|
0.00010
|
|
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr)
|
rs201340295
|
0.00010
|
|
NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu)
|
rs373841124
|
0.00010
|
|
NM_001875.5(CPS1):c.1087-7C>T
|
rs202117044
|
0.00009
|
|
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr)
|
rs201955205
|
0.00009
|
|
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr)
|
rs140999077
|
0.00009
|
|
NM_001875.5(CPS1):c.942C>A (p.Ala314=)
|
rs774427324
|
0.00009
|
|
NM_001875.5(CPS1):c.1836+15A>G
|
rs370795545
|
0.00008
|
|
NM_001875.5(CPS1):c.3921A>G (p.Ala1307=)
|
rs780550238
|
0.00008
|
|
NM_001875.5(CPS1):c.528+9A>G
|
rs369476447
|
0.00008
|
|
NM_001875.5(CPS1):c.732A>G (p.Leu244=)
|
rs565797284
|
0.00008
|
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
|
NM_001875.5(CPS1):c.487G>A (p.Gly163Arg)
|
rs200214298
|
0.00007
|
|
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)
|
rs199878637
|
0.00006
|
|
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)
|
rs142369181
|
0.00006
|
|
NM_001875.5(CPS1):c.2392-9G>A
|
rs374695266
|
0.00006
|
|
NM_001875.5(CPS1):c.2544C>T (p.Ser848=)
|
rs142818109
|
0.00006
|
|
NM_001875.5(CPS1):c.2745G>A (p.Lys915=)
|
rs143659334
|
0.00006
|
|
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr)
|
rs537170841
|
0.00006
|
|
NM_001875.5(CPS1):c.3219C>G (p.Val1073=)
|
rs374964409
|
0.00006
|
|
NM_001875.5(CPS1):c.3234A>G (p.Thr1078=)
|
rs148570490
|
0.00006
|
|
NM_001875.5(CPS1):c.3408G>A (p.Gly1136=)
|
rs147776702
|
0.00006
|
|
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp)
|
rs367595060
|
0.00006
|
|
NM_001875.5(CPS1):c.4173G>A (p.Thr1391=)
|
rs201710257
|
0.00006
|
|
NM_001875.5(CPS1):c.4488T>C (p.Ala1496=)
|
rs141982972
|
0.00006
|
|
NM_001875.5(CPS1):c.636C>T (p.Tyr212=)
|
rs138724401
|
0.00006
|
|
NM_001875.5(CPS1):c.*658A>G
|
rs559191307
|
0.00005
|
|
NM_001875.5(CPS1):c.*848G>A
|
rs142796725
|
0.00005
|
|
NM_001875.5(CPS1):c.1632G>A (p.Thr544=)
|
rs755530984
|
0.00005
|
|
NM_001875.5(CPS1):c.2066G>A (p.Arg689His)
|
rs201256385
|
0.00005
|
|
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)
|
rs369061090
|
0.00005
|
|
NM_001875.5(CPS1):c.2733G>A (p.Gly911=)
|
rs571189660
|
0.00005
|
|
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)
|
rs146064786
|
0.00005
|
|
NM_001875.5(CPS1):c.3538G>A (p.Ala1180Thr)
|
rs776047286
|
0.00005
|
|
NM_001875.5(CPS1):c.-4C>A
|
rs768210605
|
0.00004
|
|
NM_001875.5(CPS1):c.1131C>T (p.His377=)
|
rs372421311
|
0.00004
|
|
NM_001875.5(CPS1):c.1165-5T>C
|
rs565003226
|
0.00004
|
|
NM_001875.5(CPS1):c.1359+19T>C
|
rs759580115
|
0.00004
|
|
NM_001875.5(CPS1):c.1764C>T (p.Ser588=)
|
rs374071271
|
0.00004
|
|
NM_001875.5(CPS1):c.1929T>C (p.Asn643=)
|
rs367848165
|
0.00004
|
|
NM_001875.5(CPS1):c.2019C>T (p.Ser673=)
|
rs374595822
|
0.00004
|
|
NM_001875.5(CPS1):c.236+15T>C
|
rs538300887
|
0.00004
|
|
NM_001875.5(CPS1):c.2427C>T (p.Phe809=)
|
rs747718128
|
0.00004
|
|
NM_001875.5(CPS1):c.2568+9T>C
|
rs752578602
|
0.00004
|
|
NM_001875.5(CPS1):c.2687+9G>T
|
rs377094467
|
0.00004
|
|
NM_001875.5(CPS1):c.2786G>A (p.Arg929Lys)
|
rs748045437
|
0.00004
|
|
NM_001875.5(CPS1):c.3414T>G (p.Ala1138=)
|
rs761875285
|
0.00004
|
|
NM_001875.5(CPS1):c.3667-20G>A
|
rs369845787
|
0.00004
|
|
NM_001875.5(CPS1):c.3756+14A>G
|
rs771430083
|
0.00004
|
|
NM_001875.5(CPS1):c.3757-10A>C
|
rs201251176
|
0.00004
|
|
NM_001875.5(CPS1):c.378C>T (p.Ile126=)
|
rs780425393
|
0.00004
|
|
NM_001875.5(CPS1):c.4101+8G>A
|
rs754780089
|
0.00004
|
|
NM_001875.5(CPS1):c.4404+5A>T
|
rs375785288
|
0.00004
|
|
NM_001875.5(CPS1):c.472-5T>G
|
rs747103515
|
0.00004
|
|
NM_001875.5(CPS1):c.712-11C>T
|
rs561995236
|
0.00004
|
|
NM_001875.5(CPS1):c.771T>C (p.Asp257=)
|
rs373865114
|
0.00004
|
|
NM_001875.5(CPS1):c.785C>T (p.Ala262Val)
|
rs372217508
|
0.00004
|
|
NM_001875.5(CPS1):c.819A>G (p.Pro273=)
|
rs140890568
|
0.00004
|
|
NM_001875.5(CPS1):c.*235A>T
|
rs6728169
|
0.00003
|
|
NM_001875.5(CPS1):c.*808G>T
|
rs943762320
|
0.00003
|
|
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)
|
rs201407486
|
0.00003
|
|
NM_001875.5(CPS1):c.1662A>G (p.Leu554=)
|
rs778112132
|
0.00003
|
|
NM_001875.5(CPS1):c.1707+11T>G
|
rs377732856
|
0.00003
|
|
NM_001875.5(CPS1):c.2458A>G (p.Ile820Val)
|
rs554763314
|
0.00003
|
|
NM_001875.5(CPS1):c.2644C>T (p.Arg882Cys)
|
rs148519116
|
0.00003
|
|
NM_001875.5(CPS1):c.2815C>T (p.Pro939Ser)
|
rs1047579926
|
0.00003
|
|
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys)
|
rs1392559810
|
0.00003
|
|
NM_001875.5(CPS1):c.3404+8T>A
|
rs767159571
|
0.00003
|
|
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)
|
rs555151297
|
0.00003
|
|
NM_001875.5(CPS1):c.3724G>A (p.Val1242Ile)
|
rs766236739
|
0.00003
|
|
NM_001875.5(CPS1):c.3952T>C (p.Leu1318=)
|
rs769593170
|
0.00003
|
|
NM_001875.5(CPS1):c.4164G>A (p.Leu1388=)
|
rs750003966
|
0.00003
|
|
NM_001875.5(CPS1):c.840+10A>G
|
rs778447367
|
0.00003
|
|
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg)
|
rs760895692
|
0.00002
|
|
NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp)
|
rs139818667
|
0.00002
|
|
NM_001875.5(CPS1):c.1275C>T (p.Val425=)
|
rs202149657
|
0.00002
|
|
NM_001875.5(CPS1):c.1365A>C (p.Glu455Asp)
|
rs1248150090
|
0.00002
|
|
NM_001875.5(CPS1):c.1425C>T (p.Gly475=)
|
rs764341671
|
0.00002
|
|
NM_001875.5(CPS1):c.1550-5T>C
|
rs779060657
|
0.00002
|
|
NM_001875.5(CPS1):c.2026G>A (p.Glu676Lys)
|
rs753441052
|
0.00002
|
|
NM_001875.5(CPS1):c.2044C>T (p.Arg682Cys)
|
rs754653479
|
0.00002
|
|
NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala)
|
rs755035266
|
0.00002
|
|
NM_001875.5(CPS1):c.2256C>T (p.Asn752=)
|
rs770788292
|
0.00002
|
|
NM_001875.5(CPS1):c.2257G>A (p.Val753Ile)
|
rs1272423772
|
0.00002
|
|
NM_001875.5(CPS1):c.2459T>C (p.Ile820Thr)
|
rs763191148
|
0.00002
|
|
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser)
|
rs750006303
|
0.00002
|
|
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu)
|
rs147062907
|
0.00002
|
|
NM_001875.5(CPS1):c.2892T>A (p.Gly964=)
|
rs770984739
|
0.00002
|
|
NM_001875.5(CPS1):c.302T>C (p.Ile101Thr)
|
rs186877621
|
0.00002
|
|
NM_001875.5(CPS1):c.3030G>A (p.Thr1010=)
|
rs372027160
|
0.00002
|
|
NM_001875.5(CPS1):c.3395A>G (p.Tyr1132Cys)
|
rs764150301
|
0.00002
|
|
NM_001875.5(CPS1):c.3954G>A (p.Leu1318=)
|
rs1447002867
|
0.00002
|
|
NM_001875.5(CPS1):c.4019A>G (p.Glu1340Gly)
|
rs748968097
|
0.00002
|
|
NM_001875.5(CPS1):c.4023T>C (p.Gly1341=)
|
rs1324553117
|
0.00002
|
|
NM_001875.5(CPS1):c.4047A>G (p.Ala1349=)
|
rs772642343
|
0.00002
|
|
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala)
|
rs747085519
|
0.00002
|
|
NM_001875.5(CPS1):c.764A>C (p.Glu255Ala)
|
rs780006153
|
0.00002
|
|
NM_001875.5(CPS1):c.841-8del
|
rs745402454
|
0.00002
|
|
NM_001875.5(CPS1):c.84A>G (p.Lys28=)
|
rs574128765
|
0.00002
|
|
NM_001875.5(CPS1):c.883A>G (p.Thr295Ala)
|
rs143608594
|
0.00002
|
|
NM_001875.5(CPS1):c.*1117A>G
|
rs886055564
|
0.00001
|
|
NM_001875.5(CPS1):c.*424A>C
|
rs1414802360
|
0.00001
|
|
NM_001875.5(CPS1):c.*739T>G
|
rs886055560
|
0.00001
|
|
NM_001875.5(CPS1):c.*913G>T
|
rs541817831
|
0.00001
|
|
NM_001875.5(CPS1):c.-76A>G
|
rs372753413
|
0.00001
|
|
NM_001875.5(CPS1):c.1029C>T (p.Asn343=)
|
rs747138655
|
0.00001
|
|
NM_001875.5(CPS1):c.1063A>G (p.Asn355Asp)
|
rs1472190012
|
0.00001
|
|
NM_001875.5(CPS1):c.1070A>G (p.Asn357Ser)
|
rs761817028
|
0.00001
|
|
NM_001875.5(CPS1):c.1092T>G (p.Ile364Met)
|
rs772077620
|
0.00001
|
|
NM_001875.5(CPS1):c.112C>T (p.Leu38Phe)
|
rs749164722
|
0.00001
|
|
NM_001875.5(CPS1):c.1146G>A (p.Pro382=)
|
rs773257710
|
0.00001
|
|
NM_001875.5(CPS1):c.1165-4C>T
|
rs768180035
|
0.00001
|
|
NM_001875.5(CPS1):c.1208C>G (p.Ala403Gly)
|
rs754023105
|
0.00001
|
|
NM_001875.5(CPS1):c.1226T>C (p.Val409Ala)
|
rs370342489
|
0.00001
|
|
NM_001875.5(CPS1):c.1227C>A (p.Val409=)
|
rs1394034733
|
0.00001
|
|
NM_001875.5(CPS1):c.1245A>G (p.Leu415=)
|
rs1359323350
|
0.00001
|
|
NM_001875.5(CPS1):c.1263+5G>C
|
rs1275489342
|
0.00001
|
|
NM_001875.5(CPS1):c.1278T>C (p.Leu426=)
|
rs756314968
|
0.00001
|
|
NM_001875.5(CPS1):c.1284A>C (p.Leu428=)
|
rs1574567824
|
0.00001
|
|
NM_001875.5(CPS1):c.1332A>G (p.Ser444=)
|
rs773724891
|
0.00001
|
|
NM_001875.5(CPS1):c.1359+4A>G
|
rs916389428
|
0.00001
|
|
NM_001875.5(CPS1):c.1362A>G (p.Glu454=)
|
rs367595511
|
0.00001
|
|
NM_001875.5(CPS1):c.1395C>T (p.Asn465=)
|
rs1263470631
|
0.00001
|
|
NM_001875.5(CPS1):c.1400C>T (p.Ala467Val)
|
rs746395584
|
0.00001
|
|
NM_001875.5(CPS1):c.1426T>C (p.Leu476=)
|
rs1445507619
|
0.00001
|
|
NM_001875.5(CPS1):c.1456C>T (p.Pro486Ser)
|
rs1419745583
|
0.00001
|
|
NM_001875.5(CPS1):c.1482G>A (p.Glu494=)
|
rs374857825
|
0.00001
|
|
NM_001875.5(CPS1):c.1488C>T (p.Ile496=)
|
rs1457449273
|
0.00001
|
|
NM_001875.5(CPS1):c.1558C>T (p.Leu520=)
|
rs1313193730
|
0.00001
|
|
NM_001875.5(CPS1):c.155A>G (p.Asp52Gly)
|
rs779756731
|
0.00001
|
|
NM_001875.5(CPS1):c.1571G>T (p.Gly524Val)
|
rs397514748
|
0.00001
|
|
NM_001875.5(CPS1):c.1578C>T (p.Leu526=)
|
rs763001072
|
0.00001
|
|
NM_001875.5(CPS1):c.1582G>C (p.Glu528Gln)
|
rs763466112
|
0.00001
|
|
NM_001875.5(CPS1):c.158G>C (p.Gly53Ala)
|
rs140092912
|
0.00001
|
|
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met)
|
rs121912592
|
0.00001
|
|
NM_001875.5(CPS1):c.1638C>A (p.Asp546Glu)
|
rs1326614424
|
0.00001
|
|
NM_001875.5(CPS1):c.1650T>C (p.Phe550=)
|
rs1354358473
|
0.00001
|
|
NM_001875.5(CPS1):c.1673A>G (p.Asn558Ser)
|
rs1698690768
|
0.00001
|
|
NM_001875.5(CPS1):c.1693T>A (p.Phe565Ile)
|
rs773713162
|
0.00001
|
|
NM_001875.5(CPS1):c.1708-5G>A
|
rs571670790
|
0.00001
|
|
NM_001875.5(CPS1):c.1716T>C (p.Asp572=)
|
rs764231738
|
0.00001
|
|
NM_001875.5(CPS1):c.1767C>A (p.Ala589=)
|
rs1574577584
|
0.00001
|
|
NM_001875.5(CPS1):c.1773A>C (p.Ala591=)
|
rs746570258
|
0.00001
|
|
NM_001875.5(CPS1):c.1837-8A>G
|
rs1290474919
|
0.00001
|
|
NM_001875.5(CPS1):c.1860T>C (p.Ile620=)
|
rs767658438
|
0.00001
|
|
NM_001875.5(CPS1):c.1902T>C (p.Tyr634=)
|
rs763877139
|
0.00001
|
|
NM_001875.5(CPS1):c.1926del (p.Asp642fs)
|
rs1326644714
|
0.00001
|
|
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter)
|
rs1251623714
|
0.00001
|
|
NM_001875.5(CPS1):c.1977C>T (p.His659=)
|
rs774879922
|
0.00001
|
|
NM_001875.5(CPS1):c.1981+10G>A
|
rs773319112
|
0.00001
|
|
NM_001875.5(CPS1):c.1982-7T>C
|
rs1213843515
|
0.00001
|
|
NM_001875.5(CPS1):c.1982-9G>T
|
rs779387910
|
0.00001
|
|
NM_001875.5(CPS1):c.2061T>C (p.Val687=)
|
rs771497233
|
0.00001
|
|
NM_001875.5(CPS1):c.2106C>A (p.Ala702=)
|
rs533243282
|
0.00001
|
|
NM_001875.5(CPS1):c.2155C>T (p.Leu719=)
|
rs753381839
|
0.00001
|
|
NM_001875.5(CPS1):c.2161C>A (p.Arg721=)
|
rs202107577
|
0.00001
|
|
NM_001875.5(CPS1):c.2193-10C>A
|
rs767881510
|
0.00001
|
|
NM_001875.5(CPS1):c.2193-4A>G
|
rs750884552
|
0.00001
|
|
NM_001875.5(CPS1):c.2205A>G (p.Ala735=)
|
rs749436827
|
0.00001
|
|
NM_001875.5(CPS1):c.2259C>T (p.Val753=)
|
rs771293294
|
0.00001
|
|
NM_001875.5(CPS1):c.2308G>A (p.Val770Ile)
|
rs1237628982
|
0.00001
|
|
NM_001875.5(CPS1):c.2322C>G (p.Pro774=)
|
rs1445208216
|
0.00001
|
|
NM_001875.5(CPS1):c.2339G>A (p.Arg780His)
|
rs758724746
|
0.00001
|
|
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter)
|
rs121912596
|
0.00001
|
|
NM_001875.5(CPS1):c.237-4C>A
|
rs777273892
|
0.00001
|
|
NM_001875.5(CPS1):c.2385A>G (p.Val795=)
|
rs768164187
|
0.00001
|
|
NM_001875.5(CPS1):c.2436T>G (p.Ala812=)
|
rs771710751
|
0.00001
|
|
NM_001875.5(CPS1):c.2441G>A (p.Arg814Gln)
|
rs200731808
|
0.00001
|
|
NM_001875.5(CPS1):c.2454A>G (p.Pro818=)
|
rs765712117
|
0.00001
|
|
NM_001875.5(CPS1):c.2476C>T (p.Arg826Cys)
|
rs757451824
|
0.00001
|
|
NM_001875.5(CPS1):c.2502A>G (p.Pro834=)
|
rs1382587498
|
0.00001
|
|
NM_001875.5(CPS1):c.2547G>A (p.Thr849=)
|
rs371426184
|
0.00001
|
|
NM_001875.5(CPS1):c.2549G>A (p.Arg850His)
|
rs767694281
|
0.00001
|
|
NM_001875.5(CPS1):c.2559C>G (p.Ala853=)
|
rs754665415
|
0.00001
|
|
NM_001875.5(CPS1):c.2568+8G>A
|
rs765027224
|
0.00001
|
|
NM_001875.5(CPS1):c.2577T>C (p.Asp859=)
|
rs1439343002
|
0.00001
|
|
NM_001875.5(CPS1):c.2589C>G (p.Ser863=)
|
rs139626513
|
0.00001
|
|
NM_001875.5(CPS1):c.259C>T (p.Pro87Ser)
|
rs1553509297
|
0.00001
|
|
NM_001875.5(CPS1):c.2601T>C (p.Ile867=)
|
rs375325824
|
0.00001
|
|
NM_001875.5(CPS1):c.2652T>C (p.Ile884=)
|
rs372620072
|
0.00001
|
|
NM_001875.5(CPS1):c.2687+9G>A
|
rs377094467
|
0.00001
|
|
NM_001875.5(CPS1):c.2727G>A (p.Glu909=)
|
rs1373561767
|
0.00001
|
|
NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu)
|
rs1388955593
|
0.00001
|
|
NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu)
|
rs754706559
|
0.00001
|
|
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)
|
rs765484849
|
0.00001
|
|
NM_001875.5(CPS1):c.2769C>T (p.Leu923=)
|
rs1244905393
|
0.00001
|
|
NM_001875.5(CPS1):c.2771C>G (p.Thr924Ser)
|
rs150463750
|
0.00001
|
|
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)
|
rs1318756445
|
0.00001
|
|
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn)
|
rs760714614
|
0.00001
|
|
NM_001875.5(CPS1):c.2829+7G>A
|
rs759086830
|
0.00001
|
|
NM_001875.5(CPS1):c.2829+8A>G
|
rs941366546
|
0.00001
|
|
NM_001875.5(CPS1):c.2830-9C>G
|
rs764400976
|
0.00001
|
|
NM_001875.5(CPS1):c.2860G>T (p.Val954Leu)
|
rs756163174
|
0.00001
|
|
NM_001875.5(CPS1):c.286A>G (p.Met96Val)
|
rs1432483864
|
0.00001
|
|
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)
|
rs1375304341
|
0.00001
|
|
NM_001875.5(CPS1):c.2944G>A (p.Gly982Ser)
|
rs757059355
|
0.00001
|
|
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)
|
rs121912595
|
0.00001
|
|
NM_001875.5(CPS1):c.2957T>C (p.Ile986Thr)
|
rs1553516442
|
0.00001
|
|
NM_001875.5(CPS1):c.3036G>T (p.Val1012=)
|
rs750243323
|
0.00001
|
|
NM_001875.5(CPS1):c.3047A>G (p.Asn1016Ser)
|
rs749238466
|
0.00001
|
|
NM_001875.5(CPS1):c.3127A>G (p.Ile1043Val)
|
rs200237771
|
0.00001
|
|
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met)
|
rs1294236456
|
0.00001
|
|
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=)
|
rs369030433
|
0.00001
|
|
NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu)
|
rs770471782
|
0.00001
|
|
NM_001875.5(CPS1):c.3204A>G (p.Leu1068=)
|
rs766909251
|
0.00001
|
|
NM_001875.5(CPS1):c.3272T>G (p.Ile1091Ser)
|
rs538878532
|
0.00001
|
|
NM_001875.5(CPS1):c.3282T>C (p.Ala1094=)
|
rs761077723
|
0.00001
|
|
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=)
|
rs749825961
|
0.00001
|
|
NM_001875.5(CPS1):c.3292G>A (p.Glu1098Lys)
|
rs768579926
|
0.00001
|
|
NM_001875.5(CPS1):c.3303G>A (p.Val1101=)
|
rs774531676
|
0.00001
|
|
NM_001875.5(CPS1):c.330T>G (p.Thr110=)
|
rs777617670
|
0.00001
|
|
NM_001875.5(CPS1):c.3336+4A>G
|
rs776401808
|
0.00001
|
|
NM_001875.5(CPS1):c.3368A>T (p.Asp1123Val)
|
rs1391357751
|
0.00001
|
|
NM_001875.5(CPS1):c.3405-10C>T
|
rs1700521088
|
0.00001
|
|
NM_001875.5(CPS1):c.3405-19T>C
|
rs771189677
|
0.00001
|
|
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val)
|
rs766125631
|
0.00001
|
|
NM_001875.5(CPS1):c.3483G>A (p.Glu1161=)
|
rs906879658
|
0.00001
|
|
NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln)
|
rs553145464
|
0.00001
|
|
NM_001875.5(CPS1):c.3552T>G (p.Asp1184Glu)
|
rs769391518
|
0.00001
|
|
NM_001875.5(CPS1):c.3555A>C (p.Gly1185=)
|
rs775829352
|
0.00001
|
|
NM_001875.5(CPS1):c.3558+7G>A
|
rs764456030
|
0.00001
|
|
NM_001875.5(CPS1):c.3559-9T>C
|
rs760610209
|
0.00001
|
|
NM_001875.5(CPS1):c.3576C>T (p.Ile1192=)
|
rs1204885910
|
0.00001
|
|
NM_001875.5(CPS1):c.3607T>C (p.Ser1203Pro)
|
rs1319489001
|
0.00001
|
|
NM_001875.5(CPS1):c.3630G>A (p.Leu1210=)
|
rs778094703
|
0.00001
|
|
NM_001875.5(CPS1):c.3662A>G (p.Glu1221Gly)
|
rs1276176761
|
0.00001
|
|
NM_001875.5(CPS1):c.3666+11A>G
|
rs759823112
|
0.00001
|
|
NM_001875.5(CPS1):c.3666+7A>G
|
rs776903581
|
0.00001
|
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
|
NM_001875.5(CPS1):c.3723C>T (p.Asn1241=)
|
rs760598756
|
0.00001
|
|
NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr)
|
rs754433289
|
0.00001
|
|
NM_001875.5(CPS1):c.3753C>T (p.Val1251=)
|
rs758123016
|
0.00001
|
|
NM_001875.5(CPS1):c.3759G>A (p.Val1253=)
|
rs756701188
|
0.00001
|
|
NM_001875.5(CPS1):c.3772T>C (p.Leu1258=)
|
rs768630786
|
0.00001
|
|
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter)
|
rs1414143303
|
0.00001
|
|
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln)
|
rs750670270
|
0.00001
|
|
NM_001875.5(CPS1):c.3795C>T (p.Pro1265=)
|
rs1438414940
|
0.00001
|
|
NM_001875.5(CPS1):c.382-10G>A
|
rs938645149
|
0.00001
|
|
NM_001875.5(CPS1):c.390T>A (p.Gly130=)
|
rs577598098
|
0.00001
|
|
NM_001875.5(CPS1):c.3950G>A (p.Arg1317Gln)
|
rs369682093
|
0.00001
|
|
NM_001875.5(CPS1):c.4002G>A (p.Glu1334=)
|
rs774434356
|
0.00001
|
|
NM_001875.5(CPS1):c.4003-3C>A
|
rs779886770
|
0.00001
|
|
NM_001875.5(CPS1):c.4003-6A>G
|
rs757472109
|
0.00001
|
|
NM_001875.5(CPS1):c.4059A>C (p.Thr1353=)
|
rs1400368646
|
0.00001
|
|
NM_001875.5(CPS1):c.4068G>A (p.Lys1356=)
|
rs1425920194
|
0.00001
|
|
NM_001875.5(CPS1):c.4074C>G (p.Pro1358=)
|
rs759838283
|
0.00001
|
|
NM_001875.5(CPS1):c.4074C>T (p.Pro1358=)
|
rs759838283
|
0.00001
|
|
NM_001875.5(CPS1):c.4098C>T (p.Ile1366=)
|
rs757362140
|
0.00001
|
|
NM_001875.5(CPS1):c.4101+10T>C
|
rs1701173335
|
0.00001
|
|
NM_001875.5(CPS1):c.4102-563G>A
|
rs207462825
|
0.00001
|
|
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)
|
rs765106604
|
0.00001
|
|
NM_001875.5(CPS1):c.4134T>G (p.Ala1378=)
|
rs746991241
|
0.00001
|
|
NM_001875.5(CPS1):c.4155T>C (p.Gly1385=)
|
rs1200099747
|
0.00001
|
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
|
NM_001875.5(CPS1):c.4194C>T (p.Leu1398=)
|
rs1300448311
|
0.00001
|
|
NM_001875.5(CPS1):c.4198G>A (p.Ala1400Thr)
|
rs779382562
|
0.00001
|
|
NM_001875.5(CPS1):c.4200C>T (p.Ala1400=)
|
rs150044077
|
0.00001
|
|
NM_001875.5(CPS1):c.4206T>C (p.Asn1402=)
|
rs1235300832
|
0.00001
|
|
NM_001875.5(CPS1):c.4233G>A (p.Pro1411=)
|
rs760775513
|
0.00001
|
|
NM_001875.5(CPS1):c.4274+2T>C
|
rs1374322297
|
0.00001
|
|
NM_001875.5(CPS1):c.4300C>T (p.Leu1434=)
|
rs752311782
|
0.00001
|
|
NM_001875.5(CPS1):c.4303G>A (p.Val1435Met)
|
rs778325183
|
0.00001
|
|
NM_001875.5(CPS1):c.4350T>C (p.Tyr1450=)
|
rs771831155
|
0.00001
|
|
NM_001875.5(CPS1):c.4357C>T (p.Arg1453Trp)
|
rs933813349
|
0.00001
|
|
NM_001875.5(CPS1):c.4389C>A (p.Leu1463=)
|
rs1433915902
|
0.00001
|
|
NM_001875.5(CPS1):c.4410C>T (p.Thr1470=)
|
rs138590011
|
0.00001
|
|
NM_001875.5(CPS1):c.4416T>G (p.Leu1472=)
|
rs1701583781
|
0.00001
|
|
NM_001875.5(CPS1):c.471+14T>C
|
rs914408029
|
0.00001
|
|
NM_001875.5(CPS1):c.474T>C (p.Val158=)
|
rs1697846903
|
0.00001
|
|
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser)
|
rs868808195
|
0.00001
|
|
NM_001875.5(CPS1):c.529-7T>C
|
rs1386014914
|
0.00001
|
|
NM_001875.5(CPS1):c.586A>G (p.Asn196Asp)
|
rs770935194
|
0.00001
|
|
NM_001875.5(CPS1):c.655A>G (p.Lys219Glu)
|
rs769324029
|
0.00001
|
|
NM_001875.5(CPS1):c.690T>C (p.Asn230=)
|
rs762276786
|
0.00001
|
|
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys)
|
rs767905306
|
0.00001
|
|
NM_001875.5(CPS1):c.69G>A (p.Val23=)
|
rs1696927192
|
0.00001
|
|
NM_001875.5(CPS1):c.711+7A>C
|
rs756703955
|
0.00001
|
|
NM_001875.5(CPS1):c.712-10T>G
|
rs767866028
|
0.00001
|
|
NM_001875.5(CPS1):c.726G>A (p.Val242=)
|
rs765377334
|
0.00001
|
|
NM_001875.5(CPS1):c.765G>A (p.Glu255=)
|
rs748743178
|
0.00001
|
|
NM_001875.5(CPS1):c.795G>A (p.Pro265=)
|
rs1174421173
|
0.00001
|
|
NM_001875.5(CPS1):c.831T>C (p.Asn277=)
|
rs1218356698
|
0.00001
|
|
NM_001875.5(CPS1):c.837A>G (p.Arg279=)
|
rs1211571555
|
0.00001
|
|
NM_001875.5(CPS1):c.841-7G>A
|
rs754897201
|
0.00001
|
|
NM_001875.5(CPS1):c.856C>T (p.Arg286Cys)
|
rs202130487
|
0.00001
|
|
NM_001875.5(CPS1):c.867A>G (p.Pro289=)
|
rs1441290967
|
0.00001
|
|
NM_001875.5(CPS1):c.8G>T (p.Arg3Met)
|
rs750705469
|
0.00001
|
|
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu)
|
rs973321068
|
0.00001
|
|
NM_001875.5(CPS1):c.937A>G (p.Met313Val)
|
rs587780323
|
0.00001
|
|
NM_001875.5(CPS1):c.994A>T (p.Ile332Phe)
|
rs1394302181
|
0.00001
|
|
NM_001875.5(CPS1):c.996T>C (p.Ile332=)
|
rs754231161
|
0.00001
|
|
GRCh37/hg19 2q34(chr2:211445066-211674837)
|
|
|
|
NC_000002.11:g.(211507390_211512586)_211513223del
|
|
|
|
NC_000002.11:g.(?_211421433)_(211421593_?)del
|
|
|
|
NC_000002.11:g.(?_211421433)_(211473293_?)del
|
|
|
|
NC_000002.11:g.(?_211421458)_(211542709_?)dup
|
|
|
|
NC_000002.11:g.(?_211441050)_(211542729_?)del
|
|
|
|
NC_000002.11:g.(?_211454820)_(211455640_?)dup
|
|
|
|
NC_000002.11:g.(?_211456088)_(211479828_?)dup
|
|
|
|
NC_000002.11:g.(?_211469816)_(211477027_?)del
|
|
|
|
NC_000002.11:g.(?_211503854)_(211503959_?)del
|
|
|
|
NC_000002.11:g.(?_211507198)_(211515172_?)del
|
|
|
|
NC_000002.11:g.(?_211512577)_(211513274_?)del
|
|
|
|
NC_000002.11:g.211436160_211541748del105589
|
|
|
|
NC_000002.12:g.(?_210658579)_(210678005_?)del
|
|
|
|
NC_000002.12:g.210577425_210577431del
|
rs2106081592
|
|
|
NG_008285.1:g.(115464_117421)_(119286_120194)del
|
|
|
|
NM_001122633.3(CPS1):c.-15-321C>A
|
rs73073545
|
|
|
NM_001122633.3(CPS1):c.-17T>G
|
rs763703546
|
|
|
NM_001122633.3(CPS1):c.-74_-54dup
|
rs1375135144
|
|
|
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)
|
rs386654705
|
|
|
NM_001875.5(CPS1):c.*1040C>T
|
rs886055562
|
|
|
NM_001875.5(CPS1):c.*1068G>T
|
rs886055563
|
|
|
NM_001875.5(CPS1):c.*311A>G
|
rs886055558
|
|
|
NM_001875.5(CPS1):c.*387C>T
|
rs886055559
|
|
|
NM_001875.5(CPS1):c.*5G>A
|
rs886055556
|
|
|
NM_001875.5(CPS1):c.*747A>G
|
rs1701612032
|
|
|
NM_001875.5(CPS1):c.*74T>C
|
rs886055557
|
|
|
NM_001875.5(CPS1):c.*777A>G
|
rs886055561
|
|
|
NM_001875.5(CPS1):c.-3delinsTTCC
|
rs1553507151
|
|
|
NM_001875.5(CPS1):c.-4_-3insTTC
|
rs61509952
|
|
|
NM_001875.5(CPS1):c.1000G>A (p.Ala334Thr)
|
rs2106111068
|
|
|
NM_001875.5(CPS1):c.1003C>T (p.Gln335Ter)
|
rs1698314043
|
|
|
NM_001875.5(CPS1):c.1010A>G (p.His337Arg)
|
rs28940283
|
|
|
NM_001875.5(CPS1):c.1013G>A (p.Gly338Asp)
|
|
|
|
NM_001875.5(CPS1):c.1014C>G (p.Gly338=)
|
|
|
|
NM_001875.5(CPS1):c.1016A>G (p.Tyr339Cys)
|
|
|
|
NM_001875.5(CPS1):c.1018G>A (p.Ala340Thr)
|
|
|
|
NM_001875.5(CPS1):c.1020C>T (p.Ala340=)
|
rs1398138189
|
|
|
NM_001875.5(CPS1):c.1025ACA[1] (p.Asn343del)
|
rs1553511264
|
|
|
NM_001875.5(CPS1):c.1026C>A (p.Asp342Glu)
|
|
|
|
NM_001875.5(CPS1):c.1028A>G (p.Asn343Ser)
|
|
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|
|
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser)
|
rs1047883
|
|
|
NM_001875.5(CPS1):c.1030_1032delinsTCT (p.Thr344Ser)
|
rs386654705
|
|
|
NM_001875.5(CPS1):c.1031C>G (p.Thr344Ser)
|
rs113394579
|
|
|
NM_001875.5(CPS1):c.1031C>T (p.Thr344Ile)
|
|
|
|
NM_001875.5(CPS1):c.1036C>T (p.Pro346Ser)
|
|
|
|
NM_001875.5(CPS1):c.1038T>G (p.Pro346=)
|
rs2106111216
|
|
|
NM_001875.5(CPS1):c.1044C>T (p.Gly348=)
|
|
|
|
NM_001875.5(CPS1):c.104G>A (p.Gly35Asp)
|
rs1574520391
|
|
|
NM_001875.5(CPS1):c.105C>A (p.Gly35=)
|
|
|
|
NM_001875.5(CPS1):c.1065T>C (p.Asn355=)
|
rs1698317663
|
|
|
NM_001875.5(CPS1):c.1086+14A>G
|
|
|
|
NM_001875.5(CPS1):c.1086+17A>G
|
|
|
|
NM_001875.5(CPS1):c.1086+18A>G
|
|
|
|
NM_001875.5(CPS1):c.1086+19C>A
|
|
|
|
NM_001875.5(CPS1):c.1086+1G>A
|
rs1553511326
|
|
|
NM_001875.5(CPS1):c.1086+9T>C
|
rs2106111329
|
|
|
NM_001875.5(CPS1):c.1087-12T>C
|
|
|
|
NM_001875.5(CPS1):c.1087-16T>C
|
|
|
|
NM_001875.5(CPS1):c.1087-1G>T
|
rs1064794258
|
|
|
NM_001875.5(CPS1):c.1087-20C>T
|
|
|
|
NM_001875.5(CPS1):c.1087-9T>C
|
rs2106113002
|
|
|
NM_001875.5(CPS1):c.108C>T (p.Ile36=)
|
|
|
|
NM_001875.5(CPS1):c.1098T>C (p.His366=)
|
rs1363275376
|
|
|
NM_001875.5(CPS1):c.1100A>C (p.Glu367Ala)
|
|
|
|
NM_001875.5(CPS1):c.1101G>A (p.Glu367=)
|
rs975444103
|
|
|
NM_001875.5(CPS1):c.1109C>G (p.Pro370Arg)
|
rs149107897
|
|
|
NM_001875.5(CPS1):c.1110C>T (p.Pro370=)
|
|
|
|
NM_001875.5(CPS1):c.1110del (p.Phe371fs)
|
rs1698355880
|
|
|
NM_001875.5(CPS1):c.1112del (p.Phe371fs)
|
rs2106113137
|
|
|
NM_001875.5(CPS1):c.1122G>T (p.Val374=)
|
|
|
|
NM_001875.5(CPS1):c.1123C>T (p.Gln375Ter)
|
|
|
|
NM_001875.5(CPS1):c.1139T>C (p.Val380Ala)
|
rs2106113219
|
|
|
NM_001875.5(CPS1):c.1140C>A (p.Val380=)
|
|
|
|
NM_001875.5(CPS1):c.1141_1149del (p.Thr381_Gly383del)
|
rs1698357897
|
|
|
NM_001875.5(CPS1):c.1142C>A (p.Thr381Asn)
|
|
|
|
NM_001875.5(CPS1):c.1146G>T (p.Pro382=)
|
|
|
|
NM_001875.5(CPS1):c.114C>T (p.Leu38=)
|
|
|
|
NM_001875.5(CPS1):c.1150C>A (p.Pro384Thr)
|
rs2106113248
|
|
|
NM_001875.5(CPS1):c.1153A>G (p.Ile385Val)
|
|
|
|
NM_001875.5(CPS1):c.1155A>C (p.Ile385=)
|
rs2106113282
|
|
|
NM_001875.5(CPS1):c.1161T>A (p.Thr387=)
|
|
|
|
NM_001875.5(CPS1):c.1161T>C (p.Thr387=)
|
|
|
|
NM_001875.5(CPS1):c.1164+12del
|
|
|
|
NM_001875.5(CPS1):c.1164+13G>C
|
|
|
|
NM_001875.5(CPS1):c.1164+16G>C
|
|
|
|
NM_001875.5(CPS1):c.1164+1G>A
|
|
|
|
NM_001875.5(CPS1):c.1164+20C>A
|
|
|
|
NM_001875.5(CPS1):c.1164+226G>T
|
rs73073575
|
|
|
NM_001875.5(CPS1):c.1164+2T>C
|
rs2106113312
|
|
|
NM_001875.5(CPS1):c.1164+3A>G
|
|
|
|
NM_001875.5(CPS1):c.1164+5G>A
|
|
|
|
NM_001875.5(CPS1):c.1164+9A>G
|
|
|
|
NM_001875.5(CPS1):c.1165-10T>C
|
rs1698417211
|
|
|
NM_001875.5(CPS1):c.1165-12A>G
|
rs1574566498
|
|
|
NM_001875.5(CPS1):c.1165-13T>A
|
|
|
|
NM_001875.5(CPS1):c.1165-13T>C
|
|
|
|
NM_001875.5(CPS1):c.1165-16T>C
|
|
|
|
NM_001875.5(CPS1):c.1165-17G>A
|
rs2106116257
|
|
|
NM_001875.5(CPS1):c.1165-18G>A
|
|
|
|
NM_001875.5(CPS1):c.1165-2A>G
|
rs1305369403
|
|
|
NM_001875.5(CPS1):c.1165-6T>C
|
|
|
|
NM_001875.5(CPS1):c.1169T>G (p.Leu390Arg)
|
rs2106116333
|
|
|
NM_001875.5(CPS1):c.1170G>C (p.Leu390=)
|
rs2106116338
|
|
|
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter)
|
rs961015305
|
|
|
NM_001875.5(CPS1):c.1189C>T (p.Leu397=)
|
|
|
|
NM_001875.5(CPS1):c.1196A>G (p.Lys399Arg)
|
|
|
|
NM_001875.5(CPS1):c.1197del (p.Gly401fs)
|
|
|
|
NM_001875.5(CPS1):c.1198_1201del (p.Lys400fs)
|
|
|
|
NM_001875.5(CPS1):c.1199A>C (p.Lys400Thr)
|
|
|
|
NM_001875.5(CPS1):c.1207del (p.Ala403fs)
|
rs1574566578
|
|
|
NM_001875.5(CPS1):c.1209T>A (p.Ala403=)
|
rs2106116420
|
|
|
NM_001875.5(CPS1):c.1221_1222del (p.Val409fs)
|
|
|
|
NM_001875.5(CPS1):c.1233G>A (p.Pro411=)
|
|
|
|
NM_001875.5(CPS1):c.1233G>T (p.Pro411=)
|
|
|
|
NM_001875.5(CPS1):c.1242A>C (p.Ala414=)
|
rs748923975
|
|
|
NM_001875.5(CPS1):c.1242A>G (p.Ala414=)
|
|
|
|
NM_001875.5(CPS1):c.1251A>G (p.Ala417=)
|
|
|
|
NM_001875.5(CPS1):c.125del (p.Lys42fs)
|
|
|
|
NM_001875.5(CPS1):c.126+10A>G
|
|
|
|
NM_001875.5(CPS1):c.126+12A>G
|
|
|
|
NM_001875.5(CPS1):c.126+13T>C
|
|
|
|
NM_001875.5(CPS1):c.126+16A>G
|
|
|
|
NM_001875.5(CPS1):c.126+17T>C
|
|
|
|
NM_001875.5(CPS1):c.126+19G>T
|
|
|
|
NM_001875.5(CPS1):c.126+1G>A
|
rs1553507183
|
|
|
NM_001875.5(CPS1):c.126+7C>T
|
|
|
|
NM_001875.5(CPS1):c.1263+12G>C
|
|
|
|
NM_001875.5(CPS1):c.1263+13del
|
|
|
|
NM_001875.5(CPS1):c.1263+14C>G
|
|
|
|
NM_001875.5(CPS1):c.1263+17A>T
|
|
|
|
NM_001875.5(CPS1):c.1263+8T>A
|
|
|
|
NM_001875.5(CPS1):c.1263+8TG[4]
|
rs1553511697
|
|
|
NM_001875.5(CPS1):c.1264-10T>C
|
rs2106118113
|
|
|
NM_001875.5(CPS1):c.1264-15T>C
|
|
|
|
NM_001875.5(CPS1):c.1264-17T>C
|
|
|
|
NM_001875.5(CPS1):c.1264-19T>C
|
|
|
|
NM_001875.5(CPS1):c.1264-1G>T
|
|
|
|
NM_001875.5(CPS1):c.1264-3T>C
|
|
|
|
NM_001875.5(CPS1):c.1264-4A>G
|
|
|
|
NM_001875.5(CPS1):c.1264-6T>G
|
|
|
|
NM_001875.5(CPS1):c.127-13A>C
|
rs1553508991
|
|
|
NM_001875.5(CPS1):c.127-16G>T
|
|
|
|
NM_001875.5(CPS1):c.127-17T>C
|
|
|
|
NM_001875.5(CPS1):c.127-20del
|
rs1064794481
|
|
|
NM_001875.5(CPS1):c.127-2A>G
|
|
|
|
NM_001875.5(CPS1):c.127-6C>G
|
|
|
|
NM_001875.5(CPS1):c.127-6C>T
|
|
|
|
NM_001875.5(CPS1):c.127-7T>C
|
rs2106073173
|
|
|
NM_001875.5(CPS1):c.1272A>G (p.Lys424=)
|
|
|
|
NM_001875.5(CPS1):c.1282C>T (p.Leu428=)
|
rs1574567820
|
|
|
NM_001875.5(CPS1):c.1291G>A (p.Gly431Arg)
|
rs778766382
|
|
|
NM_001875.5(CPS1):c.1294G>A (p.Gly432Ser)
|
|
|
|
NM_001875.5(CPS1):c.1295G>A (p.Gly432Asp)
|
|
|
|
NM_001875.5(CPS1):c.1299G>C (p.Leu433=)
|
rs1698454990
|
|
|
NM_001875.5(CPS1):c.1302C>A (p.Ser434=)
|
|
|
|
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp)
|
rs1553511785
|
|
|
NM_001875.5(CPS1):c.130C>T (p.Gln44Ter)
|
rs121912593
|
|
|
NM_001875.5(CPS1):c.1312G>A (p.Ala438Thr)
|
rs772497399
|
|
|
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)
|
rs772497399
|
|
|
NM_001875.5(CPS1):c.1312G>T (p.Ala438Ser)
|
|
|
|
NM_001875.5(CPS1):c.1315G>A (p.Gly439Arg)
|
rs2106118268
|
|
|
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter)
|
rs1553511789
|
|
|
NM_001875.5(CPS1):c.1328A>C (p.Tyr443Ser)
|
|
|
|
NM_001875.5(CPS1):c.1329C>G (p.Tyr443Ter)
|
rs1574567901
|
|
|
NM_001875.5(CPS1):c.1344T>C (p.Ala448=)
|
rs2106118315
|
|
|
NM_001875.5(CPS1):c.1344del (p.Ala448_Val449insTer)
|
|
|
|
NM_001875.5(CPS1):c.1347A>C (p.Val449=)
|
rs1298255125
|
|
|
NM_001875.5(CPS1):c.1347A>G (p.Val449=)
|
rs1298255125
|
|
|
NM_001875.5(CPS1):c.1355T>C (p.Met452Thr)
|
rs1553511794
|
|
|
NM_001875.5(CPS1):c.1359+17C>G
|
|
|
|
NM_001875.5(CPS1):c.1359+7G>C
|
|
|
|
NM_001875.5(CPS1):c.1359+8A>G
|
|
|
|
NM_001875.5(CPS1):c.1359+9A>G
|
|
|
|
NM_001875.5(CPS1):c.135A>G (p.Thr45=)
|
|
|
|
NM_001875.5(CPS1):c.1360-110G>A
|
rs6743156
|
|
|
NM_001875.5(CPS1):c.1360-11G>A
|
|
|
|
NM_001875.5(CPS1):c.1360-11G>C
|
|
|
|
NM_001875.5(CPS1):c.1360-16C>A
|
|
|
|
NM_001875.5(CPS1):c.1360-17T>C
|
|
|
|
NM_001875.5(CPS1):c.1360-1G>C
|
|
|
|
NM_001875.5(CPS1):c.1360-7_1360-6del
|
|
|
|
NM_001875.5(CPS1):c.1360-8T>C
|
|
|
|
NM_001875.5(CPS1):c.1363G>T (p.Glu455Ter)
|
rs1698622742
|
|
|
NM_001875.5(CPS1):c.1368T>G (p.Asn456Lys)
|
|
|
|
NM_001875.5(CPS1):c.1370T>G (p.Val457Gly)
|
rs371350538
|
|
|
NM_001875.5(CPS1):c.1371C>G (p.Val457=)
|
rs1698623665
|
|
|
NM_001875.5(CPS1):c.1376del (p.Thr459fs)
|
|
|
|
NM_001875.5(CPS1):c.1378G>C (p.Val460Leu)
|
|
|
|
NM_001875.5(CPS1):c.1381C>T (p.Leu461=)
|
|
|
|
NM_001875.5(CPS1):c.1383G>A (p.Leu461=)
|
|
|
|
NM_001875.5(CPS1):c.138A>G (p.Ala46=)
|
|
|
|
NM_001875.5(CPS1):c.1390_1397del (p.Pro464fs)
|
|
|
|
NM_001875.5(CPS1):c.1398T>C (p.Ile466=)
|
|
|
|
NM_001875.5(CPS1):c.1400C>A (p.Ala467Glu)
|
|
|
|
NM_001875.5(CPS1):c.1401A>T (p.Ala467=)
|
rs769809767
|
|
|
NM_001875.5(CPS1):c.1404A>C (p.Ser468=)
|
rs1574573024
|
|
|
NM_001875.5(CPS1):c.1407C>G (p.Val469=)
|
rs1574573037
|
|
|
NM_001875.5(CPS1):c.1412C>A (p.Thr471Asn)
|
|
|
|
NM_001875.5(CPS1):c.1413C>T (p.Thr471=)
|
|
|
|
NM_001875.5(CPS1):c.1413dup (p.Asn472fs)
|
rs1553512225
|
|
|
NM_001875.5(CPS1):c.141C>T (p.His47=)
|
rs2106073214
|
|
|
NM_001875.5(CPS1):c.1424del (p.Gly475fs)
|
rs1375157321
|
|
|
NM_001875.5(CPS1):c.1431G>A (p.Lys477=)
|
|
|
|
NM_001875.5(CPS1):c.1432C>T (p.Gln478Ter)
|
rs2106126181
|
|
|
NM_001875.5(CPS1):c.1436C>T (p.Ala479Val)
|
|
|
|
NM_001875.5(CPS1):c.1440T>C (p.Asp480=)
|
|
|
|
NM_001875.5(CPS1):c.1446C>G (p.Val482=)
|
rs1427789805
|
|
|
NM_001875.5(CPS1):c.1446C>T (p.Val482=)
|
rs1427789805
|
|
|
NM_001875.5(CPS1):c.144T>C (p.Ile48=)
|
|
|
|
NM_001875.5(CPS1):c.1452T>C (p.Phe484=)
|
rs1698629346
|
|
|
NM_001875.5(CPS1):c.1453del (p.Leu485fs)
|
|
|
|
NM_001875.5(CPS1):c.1458C>A (p.Pro486=)
|
rs758089312
|
|
|
NM_001875.5(CPS1):c.1468C>T (p.Gln490Ter)
|
rs777614848
|
|
|
NM_001875.5(CPS1):c.1473T>C (p.Phe491=)
|
rs2106126359
|
|
|
NM_001875.5(CPS1):c.147C>G (p.Val49=)
|
rs1574540092
|
|
|
NM_001875.5(CPS1):c.147C>T (p.Val49=)
|
|
|
|
NM_001875.5(CPS1):c.1489A>T (p.Lys497Ter)
|
rs1698631663
|
|
|
NM_001875.5(CPS1):c.1491G>A (p.Lys497=)
|
|
|
|
NM_001875.5(CPS1):c.149T>C (p.Leu50Pro)
|
|
|
|
NM_001875.5(CPS1):c.1509G>T (p.Gly503=)
|
|
|
|
NM_001875.5(CPS1):c.1509del (p.Gly503_Leu504insTer)
|
rs2106126478
|
|
|
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp)
|
rs1255335680
|
|
|
NM_001875.5(CPS1):c.1520G>T (p.Gly507Val)
|
|
|
|
NM_001875.5(CPS1):c.1523T>C (p.Met508Thr)
|
|
|
|
NM_001875.5(CPS1):c.1529del (p.Gly510fs)
|
rs764384490
|
|
|
NM_001875.5(CPS1):c.1530C>A (p.Gly510=)
|
|
|
|
NM_001875.5(CPS1):c.1536A>G (p.Thr512=)
|
|
|
|
NM_001875.5(CPS1):c.1540C>T (p.Leu514=)
|
rs890185470
|
|
|
NM_001875.5(CPS1):c.1547del (p.Cys516fs)
|
|
|
|
NM_001875.5(CPS1):c.1549+11A>C
|
|
|
|
NM_001875.5(CPS1):c.1549+1G>A
|
|
|
|
NM_001875.5(CPS1):c.1549+1G>T
|
rs774484322
|
|
|
NM_001875.5(CPS1):c.1550-12G>A
|
|
|
|
NM_001875.5(CPS1):c.1550-12G>C
|
|
|
|
NM_001875.5(CPS1):c.1550-12G>T
|
|
|
|
NM_001875.5(CPS1):c.1550-15T>C
|
|
|
|
NM_001875.5(CPS1):c.1550-16T>C
|
|
|
|
NM_001875.5(CPS1):c.1550-20C>T
|
|
|
|
NM_001875.5(CPS1):c.1550-2A>C
|
rs2105840261
|
|
|
NM_001875.5(CPS1):c.1550-4T>C
|
|
|
|
NM_001875.5(CPS1):c.1550-5T>G
|
|
|
|
NM_001875.5(CPS1):c.1550-6C>G
|
|
|
|
NM_001875.5(CPS1):c.1550-9C>T
|
rs768654576
|
|
|
NM_001875.5(CPS1):c.1551A>C (p.Gly517=)
|
|
|
|
NM_001875.5(CPS1):c.1553_1555delinsA (p.Val518fs)
|
|
|
|
NM_001875.5(CPS1):c.1561T>C (p.Phe521Leu)
|
rs1698684090
|
|
|
NM_001875.5(CPS1):c.1562T>G (p.Phe521Cys)
|
rs2105840290
|
|
|
NM_001875.5(CPS1):c.1569_1570del (p.Gly524fs)
|
|
|
|
NM_001875.5(CPS1):c.1584A>T (p.Glu528Asp)
|
|
|
|
NM_001875.5(CPS1):c.1587T>C (p.Tyr529=)
|
|
|
|
NM_001875.5(CPS1):c.1592T>A (p.Val531Glu)
|
rs2105840363
|
|
|
NM_001875.5(CPS1):c.1596del (p.Val533fs)
|
|
|
|
NM_001875.5(CPS1):c.15G>C (p.Leu5Phe)
|
rs1696924953
|
|
|
NM_001875.5(CPS1):c.1610C>A (p.Ser537Ter)
|
rs1698686495
|
|
|
NM_001875.5(CPS1):c.1623T>C (p.Ile541=)
|
rs1698686885
|
|
|
NM_001875.5(CPS1):c.1638C>T (p.Asp546=)
|
rs1326614424
|
|
|
NM_001875.5(CPS1):c.1647G>A (p.Leu549=)
|
|
|
|
NM_001875.5(CPS1):c.1648T>C (p.Phe550Leu)
|
rs1016767752
|
|
|
NM_001875.5(CPS1):c.1660C>T (p.Leu554=)
|
|
|
|
NM_001875.5(CPS1):c.1665T>C (p.Asn555=)
|
rs745650408
|
|
|
NM_001875.5(CPS1):c.1670T>C (p.Ile557Thr)
|
|
|
|
NM_001875.5(CPS1):c.1683T>C (p.Ile561=)
|
|
|
|
NM_001875.5(CPS1):c.1686T>C (p.Ala562=)
|
rs1574575327
|
|
|
NM_001875.5(CPS1):c.1689A>C (p.Pro563=)
|
|
|
|
NM_001875.5(CPS1):c.1689A>T (p.Pro563=)
|
rs768681752
|
|
|
NM_001875.5(CPS1):c.1692T>A (p.Ser564Arg)
|
|
|
|
NM_001875.5(CPS1):c.1698A>G (p.Ala566=)
|
rs2105840611
|
|
|
NM_001875.5(CPS1):c.1699G>C (p.Val567Leu)
|
|
|
|
NM_001875.5(CPS1):c.1706C>T (p.Ser569Leu)
|
|
|
|
NM_001875.5(CPS1):c.1707+11T>C
|
|
|
|
NM_001875.5(CPS1):c.1707+20G>A
|
|
|
|
NM_001875.5(CPS1):c.1707+2T>G
|
|
|
|
NM_001875.5(CPS1):c.1707+3A>G
|
rs754232832
|
|
|
NM_001875.5(CPS1):c.1707G>A (p.Ser569=)
|
|
|
|
NM_001875.5(CPS1):c.1708-16T>C
|
|
|
|
NM_001875.5(CPS1):c.1708-5G>C
|
rs571670790
|
|
|
NM_001875.5(CPS1):c.1708-6T>C
|
|
|
|
NM_001875.5(CPS1):c.1708-7T>A
|
|
|
|
NM_001875.5(CPS1):c.1708-7T>C
|
|
|
|
NM_001875.5(CPS1):c.1720C>T (p.Leu574=)
|
|
|
|
NM_001875.5(CPS1):c.1721T>G (p.Leu574Arg)
|
rs1698750285
|
|
|
NM_001875.5(CPS1):c.1722G>A (p.Leu574=)
|
|
|
|
NM_001875.5(CPS1):c.1727C>A (p.Ala576Glu)
|
rs1698750847
|
|
|
NM_001875.5(CPS1):c.1730C>T (p.Ala577Val)
|
rs1559099882
|
|
|
NM_001875.5(CPS1):c.1737C>A (p.Thr579=)
|
|
|
|
NM_001875.5(CPS1):c.1737C>T (p.Thr579=)
|
|
|
|
NM_001875.5(CPS1):c.1747C>T (p.Pro583Ser)
|
|
|
|
NM_001875.5(CPS1):c.174T>C (p.Gly58=)
|
|
|
|
NM_001875.5(CPS1):c.1751_1752del (p.Val584fs)
|
|
|
|
NM_001875.5(CPS1):c.1754T>C (p.Met585Thr)
|
rs1698751783
|
|
|
NM_001875.5(CPS1):c.1759C>T (p.Arg587Cys)
|
|
|
|
NM_001875.5(CPS1):c.1760G>A (p.Arg587His)
|
rs1553512642
|
|
|
NM_001875.5(CPS1):c.1764C>A (p.Ser588=)
|
rs374071271
|
|
|
NM_001875.5(CPS1):c.1770T>A (p.Tyr590Ter)
|
|
|
|
NM_001875.5(CPS1):c.1770T>C (p.Tyr590=)
|
|
|
|
NM_001875.5(CPS1):c.1770T>G (p.Tyr590Ter)
|
rs1245368879
|
|
|
NM_001875.5(CPS1):c.1773A>G (p.Ala591=)
|
|
|
|
NM_001875.5(CPS1):c.1775dup (p.Gly594fs)
|
rs1341782266
|
|
|
NM_001875.5(CPS1):c.1776G>C (p.Leu592=)
|
rs995238182
|
|
|
NM_001875.5(CPS1):c.177C>T (p.Tyr59=)
|
rs1390730716
|
|
|
NM_001875.5(CPS1):c.1781G>T (p.Gly594Val)
|
|
|
|
NM_001875.5(CPS1):c.1781_1782del (p.Gly594fs)
|
|
|
|
NM_001875.5(CPS1):c.1782G>T (p.Gly594=)
|
rs200968000
|
|
|
NM_001875.5(CPS1):c.1790C>A (p.Ser597Ter)
|
rs1698754274
|
|
|
NM_001875.5(CPS1):c.1791A>G (p.Ser597=)
|
|
|
|
NM_001875.5(CPS1):c.1796dup (p.Cys600fs)
|
|
|
|
NM_001875.5(CPS1):c.17C>T (p.Thr6Ile)
|
|
|
|
NM_001875.5(CPS1):c.1803C>G (p.Pro601=)
|
rs2105843106
|
|
|
NM_001875.5(CPS1):c.1809A>G (p.Arg603=)
|
|
|
|
NM_001875.5(CPS1):c.1812_1813del (p.Glu604fs)
|
|
|
|
NM_001875.5(CPS1):c.1815T>A (p.Thr605=)
|
rs1698755276
|
|
|
NM_001875.5(CPS1):c.1815T>C (p.Thr605=)
|
|
|
|
NM_001875.5(CPS1):c.1815T>G (p.Thr605=)
|
rs1698755276
|
|
|
NM_001875.5(CPS1):c.1816T>C (p.Leu606=)
|
rs1355862440
|
|
|
NM_001875.5(CPS1):c.1826_1827del (p.Leu609fs)
|
|
|
|
NM_001875.5(CPS1):c.1827C>T (p.Leu609=)
|
rs1574577723
|
|
|
NM_001875.5(CPS1):c.1830C>T (p.Ser610=)
|
rs2105843159
|
|
|
NM_001875.5(CPS1):c.1836+11T>C
|
|
|
|
NM_001875.5(CPS1):c.1836+13G>A
|
rs1239037348
|
|
|
NM_001875.5(CPS1):c.1836+14T>A
|
rs2105843197
|
|
|
NM_001875.5(CPS1):c.1836+16G>C
|
|
|
|
NM_001875.5(CPS1):c.1836+2T>C
|
rs1574577755
|
|
|
NM_001875.5(CPS1):c.1836+8T>G
|
|
|
|
NM_001875.5(CPS1):c.1837-13C>T
|
|
|
|
NM_001875.5(CPS1):c.1837-14T>C
|
|
|
|
NM_001875.5(CPS1):c.1837-20C>A
|
|
|
|
NM_001875.5(CPS1):c.1837-4C>A
|
rs2105847166
|
|
|
NM_001875.5(CPS1):c.1837-9A>G
|
|
|
|
NM_001875.5(CPS1):c.1839C>T (p.Ala613=)
|
|
|
|
NM_001875.5(CPS1):c.1846A>G (p.Met616Val)
|
|
|
|
NM_001875.5(CPS1):c.1854C>T (p.Asn618=)
|
rs1329765894
|
|
|
NM_001875.5(CPS1):c.1855C>T (p.Gln619Ter)
|
|
|
|
NM_001875.5(CPS1):c.1862T>C (p.Leu621Pro)
|
rs2105847240
|
|
|
NM_001875.5(CPS1):c.1864G>A (p.Val622Met)
|
rs1553512962
|
|
|
NM_001875.5(CPS1):c.186C>A (p.Gly62=)
|
|
|
|
NM_001875.5(CPS1):c.1875A>C (p.Ser625=)
|
rs1698860002
|
|
|
NM_001875.5(CPS1):c.1878G>T (p.Val626=)
|
rs1057522548
|
|
|
NM_001875.5(CPS1):c.1881A>G (p.Thr627=)
|
|
|
|
NM_001875.5(CPS1):c.1891G>T (p.Glu631Ter)
|
|
|
|
NM_001875.5(CPS1):c.1893A>G (p.Glu631=)
|
rs2105847319
|
|
|
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg)
|
rs1553512974
|
|
|
NM_001875.5(CPS1):c.1899A>G (p.Glu633=)
|
|
|
|
NM_001875.5(CPS1):c.18A>G (p.Thr6=)
|
|
|
|
NM_001875.5(CPS1):c.1905A>T (p.Glu635Asp)
|
rs1698862176
|
|
|
NM_001875.5(CPS1):c.1908G>T (p.Val636=)
|
|
|
|
NM_001875.5(CPS1):c.1910T>C (p.Val637Ala)
|
|
|
|
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)
|
rs759201450
|
|
|
NM_001875.5(CPS1):c.1913G>A (p.Arg638Gln)
|
|
|
|
NM_001875.5(CPS1):c.1913G>C (p.Arg638Pro)
|
rs757205958
|
|
|
NM_001875.5(CPS1):c.1923T>C (p.Asp641=)
|
rs149489502
|
|
|
NM_001875.5(CPS1):c.1926C>T (p.Asp642=)
|
rs1574581538
|
|
|
NM_001875.5(CPS1):c.192A>G (p.Pro64=)
|
|
|
|
NM_001875.5(CPS1):c.1930del (p.Cys644fs)
|
|
|
|
NM_001875.5(CPS1):c.1937C>G (p.Thr646Ser)
|
|
|
|
NM_001875.5(CPS1):c.1941_1944del (p.Cys648fs)
|
|
|
|
NM_001875.5(CPS1):c.1944dup (p.Asn649Ter)
|
|
|
|
NM_001875.5(CPS1):c.1947C>T (p.Asn649=)
|
|
|
|
NM_001875.5(CPS1):c.1949T>C (p.Met650Thr)
|
rs1698865403
|
|
|
NM_001875.5(CPS1):c.194C>T (p.Ser65Phe)
|
|
|
|
NM_001875.5(CPS1):c.1959T>C (p.Val653=)
|
rs1698865843
|
|
|
NM_001875.5(CPS1):c.1962T>C (p.Asp654=)
|
|
|
|
NM_001875.5(CPS1):c.1962del (p.Asp654fs)
|
|
|
|
NM_001875.5(CPS1):c.1965C>T (p.Ala655=)
|
rs2105847501
|
|
|
NM_001875.5(CPS1):c.1970G>A (p.Gly657Asp)
|
|
|
|
NM_001875.5(CPS1):c.1970del (p.Gly657fs)
|
|
|
|
NM_001875.5(CPS1):c.1981+12A>G
|
|
|
|
NM_001875.5(CPS1):c.1981+14C>T
|
|
|
|
NM_001875.5(CPS1):c.1981+1G>C
|
|
|
|
NM_001875.5(CPS1):c.1981+20G>C
|
|
|
|
NM_001875.5(CPS1):c.1981+7A>C
|
rs185758505
|
|
|
NM_001875.5(CPS1):c.1981+7A>G
|
rs185758505
|
|
|
NM_001875.5(CPS1):c.1981+9A>T
|
rs2105847580
|
|
|
NM_001875.5(CPS1):c.1982-10G>T
|
rs2105849819
|
|
|
NM_001875.5(CPS1):c.1982-12T>C
|
|
|
|
NM_001875.5(CPS1):c.1982-16C>T
|
|
|
|
NM_001875.5(CPS1):c.1982-18T>C
|
|
|
|
NM_001875.5(CPS1):c.1982-19G>C
|
|
|
|
NM_001875.5(CPS1):c.1982-1G>C
|
rs1559102636
|
|
|
NM_001875.5(CPS1):c.1982-4A>G
|
|
|
|
NM_001875.5(CPS1):c.1982-8A>T
|
rs563304664
|
|
|
NM_001875.5(CPS1):c.1982G>A (p.Gly661Asp)
|
rs2105849848
|
|
|
NM_001875.5(CPS1):c.1992T>G (p.Val664=)
|
|
|
|
NM_001875.5(CPS1):c.1995T>C (p.Val665=)
|
rs770854846
|
|
|
NM_001875.5(CPS1):c.2002C>T (p.Pro668Ser)
|
|
|
|
NM_001875.5(CPS1):c.2007C>A (p.Ala669=)
|
rs2105849900
|
|
|
NM_001875.5(CPS1):c.2011A>G (p.Thr671Ala)
|
rs1698926726
|
|
|
NM_001875.5(CPS1):c.2013A>G (p.Thr671=)
|
|
|
|
NM_001875.5(CPS1):c.2016C>G (p.Leu672=)
|
|
|
|
NM_001875.5(CPS1):c.2017_2018del (p.Ser673fs)
|
|
|
|
NM_001875.5(CPS1):c.2021A>T (p.Asn674Ile)
|
|
|
|
NM_001875.5(CPS1):c.2022T>A (p.Asn674Lys)
|
|
|
|
NM_001875.5(CPS1):c.2028G>A (p.Glu676=)
|
|
|
|
NM_001875.5(CPS1):c.2033A>G (p.Gln678Arg)
|
|
|
|
NM_001875.5(CPS1):c.2040G>A (p.Leu680=)
|
|
|
|
NM_001875.5(CPS1):c.2045G>A (p.Arg682His)
|
|
|
|
NM_001875.5(CPS1):c.2048C>G (p.Thr683Ser)
|
rs753106342
|
|
|
NM_001875.5(CPS1):c.2051C>G (p.Ser684Ter)
|
rs1698929326
|
|
|
NM_001875.5(CPS1):c.2052A>T (p.Ser684=)
|
|
|
|
NM_001875.5(CPS1):c.2058T>C (p.Asn686=)
|
|
|
|
NM_001875.5(CPS1):c.2064T>C (p.Val688=)
|
rs2105850060
|
|
|
NM_001875.5(CPS1):c.2064T>G (p.Val688=)
|
rs2105850060
|
|
|
NM_001875.5(CPS1):c.2072T>A (p.Leu691Ter)
|
rs1698930454
|
|
|
NM_001875.5(CPS1):c.2083G>A (p.Gly695Ser)
|
|
|
|
NM_001875.5(CPS1):c.209_216dup (p.Phe73fs)
|
rs1553509010
|
|
|
NM_001875.5(CPS1):c.2100G>A (p.Gln700=)
|
rs1698931117
|
|
|
NM_001875.5(CPS1):c.2103T>C (p.Phe701=)
|
rs1361109371
|
|
|
NM_001875.5(CPS1):c.2109T>G (p.Leu703=)
|
|
|
|
NM_001875.5(CPS1):c.2114C>G (p.Pro705Arg)
|
|
|
|
NM_001875.5(CPS1):c.2118C>T (p.Thr706=)
|
|
|
|
NM_001875.5(CPS1):c.2131T>C (p.Cys711Arg)
|
rs1244823608
|
|
|
NM_001875.5(CPS1):c.2134A>G (p.Ile712Val)
|
|
|
|
NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter)
|
rs1337182136
|
|
|
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu)
|
rs551261693
|
|
|
NM_001875.5(CPS1):c.2144_2145del (p.Val715fs)
|
|
|
|
NM_001875.5(CPS1):c.214del (p.Val72fs)
|
|
|
|
NM_001875.5(CPS1):c.2152A>T (p.Arg718Ter)
|
rs1698933356
|
|
|
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys)
|
rs1559102901
|
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
|
NM_001875.5(CPS1):c.2162G>A (p.Arg721Gln)
|
|
|
|
NM_001875.5(CPS1):c.2170_2173delinsCCA (p.Ala724fs)
|
|
|
|
NM_001875.5(CPS1):c.2171_2175del (p.Ala724fs)
|
rs2105850258
|
|
|
NM_001875.5(CPS1):c.2181A>C (p.Ser727=)
|
|
|
|
NM_001875.5(CPS1):c.2184A>G (p.Lys728=)
|
rs1574584352
|
|
|
NM_001875.5(CPS1):c.2186C>T (p.Ala729Val)
|
rs1698935242
|
|
|
NM_001875.5(CPS1):c.2187C>T (p.Ala729=)
|
rs2105850303
|
|
|
NM_001875.5(CPS1):c.2190T>C (p.Thr730=)
|
|
|
|
NM_001875.5(CPS1):c.2192+10G>C
|
rs2105850342
|
|
|
NM_001875.5(CPS1):c.2192+11A>G
|
|
|
|
NM_001875.5(CPS1):c.2192+7C>T
|
|
|
|
NM_001875.5(CPS1):c.2192+8C>G
|
|
|
|
NM_001875.5(CPS1):c.2192+9A>G
|
|
|
|
NM_001875.5(CPS1):c.2192G>A (p.Gly731Asp)
|
|
|
|
NM_001875.5(CPS1):c.2193-13C>G
|
|
|
|
NM_001875.5(CPS1):c.2193-14T>A
|
rs569836557
|
|
|
NM_001875.5(CPS1):c.2193-14T>C
|
|
|
|
NM_001875.5(CPS1):c.2193-16T>C
|
|
|
|
NM_001875.5(CPS1):c.2193-17T>C
|
|
|
|
NM_001875.5(CPS1):c.2193-18T>C
|
|
|
|
NM_001875.5(CPS1):c.2193-1G>A
|
|
|
|
NM_001875.5(CPS1):c.2193-1G>T
|
rs1553513387
|
|
|
NM_001875.5(CPS1):c.2193-5T>C
|
|
|
|
NM_001875.5(CPS1):c.2193-6T>G
|
|
|
|
NM_001875.5(CPS1):c.2196C>T (p.Tyr732=)
|
|
|
|
NM_001875.5(CPS1):c.2199A>G (p.Pro733=)
|
rs780079490
|
|
|
NM_001875.5(CPS1):c.2200T>A (p.Leu734Met)
|
rs1297131870
|
|
|
NM_001875.5(CPS1):c.2200T>C (p.Leu734=)
|
rs1297131870
|
|
|
NM_001875.5(CPS1):c.2201T>A (p.Leu734Ter)
|
rs1574586310
|
|
|
NM_001875.5(CPS1):c.2205A>T (p.Ala735=)
|
|
|
|
NM_001875.5(CPS1):c.2208C>T (p.Phe736=)
|
|
|
|
NM_001875.5(CPS1):c.2217A>C (p.Ala739=)
|
|
|
|
NM_001875.5(CPS1):c.2217A>G (p.Ala739=)
|
rs1698996365
|
|
|
NM_001875.5(CPS1):c.221A>G (p.Asn74Ser)
|
|
|
|
NM_001875.5(CPS1):c.2226C>T (p.Ala742=)
|
|
|
|
NM_001875.5(CPS1):c.2227del (p.Ala742_Leu743insTer)
|
rs781088670
|
|
|
NM_001875.5(CPS1):c.2233A>C (p.Ile745Leu)
|
|
|
|
NM_001875.5(CPS1):c.2242C>G (p.Pro748Ala)
|
|
|
|
NM_001875.5(CPS1):c.2244A>G (p.Pro748=)
|
|
|
|
NM_001875.5(CPS1):c.2260G>A (p.Val754Ile)
|
|
|
|
NM_001875.5(CPS1):c.2262A>G (p.Val754=)
|
|
|
|
NM_001875.5(CPS1):c.2265C>A (p.Ser755=)
|
rs41272667
|
|
|
NM_001875.5(CPS1):c.2265C>T (p.Ser755=)
|
rs41272667
|
|
|
NM_001875.5(CPS1):c.2266G>A (p.Gly756Arg)
|
|
|
|
NM_001875.5(CPS1):c.2271G>A (p.Lys757=)
|
rs2105852726
|
|
|
NM_001875.5(CPS1):c.2274A>G (p.Thr758=)
|
|
|
|
NM_001875.5(CPS1):c.2277A>G (p.Ser759=)
|
rs2105852746
|
|
|
NM_001875.5(CPS1):c.2283_2287delinsA (p.Cys761_Glu763delinsTer)
|
rs1699000892
|
|
|
NM_001875.5(CPS1):c.228C>G (p.Gly76=)
|
rs1450875442
|
|
|
NM_001875.5(CPS1):c.2301T>C (p.Asp767=)
|
rs2105852796
|
|
|
NM_001875.5(CPS1):c.2316G>A (p.Lys772=)
|
rs1574586633
|
|
|
NM_001875.5(CPS1):c.2322C>A (p.Pro774=)
|
rs1445208216
|
|
|
NM_001875.5(CPS1):c.2324G>A (p.Arg775His)
|
rs766970243
|
|
|
NM_001875.5(CPS1):c.2334T>C (p.Leu778=)
|
rs2105852851
|
|
|
NM_001875.5(CPS1):c.2334T>G (p.Leu778=)
|
rs2105852851
|
|
|
NM_001875.5(CPS1):c.2337C>T (p.Asp779=)
|
|
|
|
NM_001875.5(CPS1):c.2358C>T (p.Ser786=)
|
rs1699003909
|
|
|
NM_001875.5(CPS1):c.236+18A>G
|
|
|
|
NM_001875.5(CPS1):c.236+1G>T
|
rs1553509023
|
|
|
NM_001875.5(CPS1):c.236+4A>G
|
|
|
|
NM_001875.5(CPS1):c.236+5G>A
|
rs1553509024
|
|
|
NM_001875.5(CPS1):c.2361A>G (p.Arg787=)
|
|
|
|
NM_001875.5(CPS1):c.237-12A>G
|
|
|
|
NM_001875.5(CPS1):c.237-14G>A
|
|
|
|
NM_001875.5(CPS1):c.237-4C>T
|
rs777273892
|
|
|
NM_001875.5(CPS1):c.2375T>C (p.Met792Thr)
|
|
|
|
NM_001875.5(CPS1):c.2375del (p.Met792fs)
|
rs1699004800
|
|
|
NM_001875.5(CPS1):c.2376G>C (p.Met792Ile)
|
rs1553513429
|
|
|
NM_001875.5(CPS1):c.237G>A (p.Gly79=)
|
rs770681923
|
|
|
NM_001875.5(CPS1):c.2381G>T (p.Ser794Ile)
|
rs1247456569
|
|
|
NM_001875.5(CPS1):c.2382T>C (p.Ser794=)
|
|
|
|
NM_001875.5(CPS1):c.2391+10del
|
|
|
|
NM_001875.5(CPS1):c.2391+11G>A
|
|
|
|
NM_001875.5(CPS1):c.2391+11G>T
|
|
|
|
NM_001875.5(CPS1):c.2391+12G>A
|
|
|
|
NM_001875.5(CPS1):c.2391+12G>C
|
|
|
|
NM_001875.5(CPS1):c.2391+12_2391+21del
|
|
|
|
NM_001875.5(CPS1):c.2391+17T>C
|
|
|
|
NM_001875.5(CPS1):c.2391+18T>C
|
|
|
|
NM_001875.5(CPS1):c.2391+1G>A
|
rs1553513433
|
|
|
NM_001875.5(CPS1):c.2391+1G>T
|
rs1553513433
|
|
|
NM_001875.5(CPS1):c.2391+2T>C
|
|
|
|
NM_001875.5(CPS1):c.2391G>T (p.Glu797Asp)
|
rs1181945940
|
|
|
NM_001875.5(CPS1):c.2392-11A>G
|
|
|
|
NM_001875.5(CPS1):c.2392-133del
|
rs3060429
|
|
|
NM_001875.5(CPS1):c.2392-133dup
|
rs3060429
|
|
|
NM_001875.5(CPS1):c.2392-134_2392-133dup
|
rs3060429
|
|
|
NM_001875.5(CPS1):c.2392-135_2392-133dup
|
rs3060429
|
|
|
NM_001875.5(CPS1):c.2392-17T>C
|
|
|
|
NM_001875.5(CPS1):c.2392-19T>G
|
|
|
|
NM_001875.5(CPS1):c.2392-1G>A
|
|
|
|
NM_001875.5(CPS1):c.2392-1G>T
|
rs755882799
|
|
|
NM_001875.5(CPS1):c.2392-20G>A
|
|
|
|
NM_001875.5(CPS1):c.2401A>G (p.Ile801Val)
|
|
|
|
NM_001875.5(CPS1):c.2403T>C (p.Ile801=)
|
rs2105858988
|
|
|
NM_001875.5(CPS1):c.2403dup (p.Gly802fs)
|
rs2105858978
|
|
|
NM_001875.5(CPS1):c.2407C>A (p.Arg803Ser)
|
rs201716417
|
|
|
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
|
rs201716417
|
|
|
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)
|
rs201716417
|
|
|
NM_001875.5(CPS1):c.2408dup (p.Thr804fs)
|
rs2105859007
|
|
|
NM_001875.5(CPS1):c.2412C>T (p.Thr804=)
|
rs2105859014
|
|
|
NM_001875.5(CPS1):c.2415T>C (p.Phe805=)
|
rs1553513861
|
|
|
NM_001875.5(CPS1):c.2415T>G (p.Phe805Leu)
|
rs1553513861
|
|
|
NM_001875.5(CPS1):c.2419G>T (p.Glu807Ter)
|
rs1699148940
|
|
|
NM_001875.5(CPS1):c.2420_2423dup (p.Ser808fs)
|
|
|
|
NM_001875.5(CPS1):c.2429A>G (p.Gln810Arg)
|
rs1553513864
|
|
|
NM_001875.5(CPS1):c.243A>C (p.Pro81=)
|
|
|
|
NM_001875.5(CPS1):c.243A>G (p.Pro81=)
|
rs2106079420
|
|
|
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)
|
rs772782772
|
|
|
NM_001875.5(CPS1):c.2446T>C (p.Cys816Arg)
|
rs1553513870
|
|
|
NM_001875.5(CPS1):c.2446del (p.Cys816fs)
|
rs2105859077
|
|
|
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu)
|
|
|
|
NM_001875.5(CPS1):c.2463A>G (p.Glu821=)
|
|
|
|
NM_001875.5(CPS1):c.2469C>T (p.Phe823=)
|
rs1264691798
|
|
|
NM_001875.5(CPS1):c.2470_2471del (p.Thr824fs)
|
|
|
|
NM_001875.5(CPS1):c.2470_2482del (p.Thr824fs)
|
rs2105859138
|
|
|
NM_001875.5(CPS1):c.2474C>T (p.Pro825Leu)
|
rs1376614988
|
|
|
NM_001875.5(CPS1):c.2475C>T (p.Pro825=)
|
rs751784059
|
|
|
NM_001875.5(CPS1):c.2477G>A (p.Arg826His)
|
|
|
|
NM_001875.5(CPS1):c.2477del (p.Arg826fs)
|
|
|
|
NM_001875.5(CPS1):c.2481C>T (p.Leu827=)
|
rs1699152712
|
|
|
NM_001875.5(CPS1):c.2485A>G (p.Met829Val)
|
|
|
|
NM_001875.5(CPS1):c.2493del (p.Glu832fs)
|
|
|
|
NM_001875.5(CPS1):c.2498G>A (p.Trp833Ter)
|
|
|
|
NM_001875.5(CPS1):c.2499G>A (p.Trp833Ter)
|
|
|
|
NM_001875.5(CPS1):c.2512G>A (p.Asp838Asn)
|
|
|
|
NM_001875.5(CPS1):c.2515C>T (p.Leu839Phe)
|
|
|
|
NM_001875.5(CPS1):c.2520A>G (p.Arg840=)
|
|
|
|
NM_001875.5(CPS1):c.2525del (p.Glu842fs)
|
|
|
|
NM_001875.5(CPS1):c.2526G>A (p.Glu842=)
|
|
|
|
NM_001875.5(CPS1):c.2532T>G (p.Ser844=)
|
|
|
|
NM_001875.5(CPS1):c.2533_2534del (p.Glu845fs)
|
|
|
|
NM_001875.5(CPS1):c.2537C>T (p.Pro846Leu)
|
rs1486364626
|
|
|
NM_001875.5(CPS1):c.2546C>T (p.Thr849Met)
|
|
|
|
NM_001875.5(CPS1):c.2548C>G (p.Arg850Gly)
|
rs1015051007
|
|
|
NM_001875.5(CPS1):c.2548C>T (p.Arg850Cys)
|
|
|
|
NM_001875.5(CPS1):c.254C>A (p.Thr85Asn)
|
rs770250368
|
|
|
NM_001875.5(CPS1):c.2553C>A (p.Ile851=)
|
|
|
|
NM_001875.5(CPS1):c.2553C>G (p.Ile851Met)
|
|
|
|
NM_001875.5(CPS1):c.2556T>A (p.Tyr852Ter)
|
rs1699157096
|
|
|
NM_001875.5(CPS1):c.2556T>C (p.Tyr852=)
|
|
|
|
NM_001875.5(CPS1):c.255T>C (p.Thr85=)
|
rs2106079439
|
|
|
NM_001875.5(CPS1):c.2568+10T>C
|
rs1304867658
|
|
|
NM_001875.5(CPS1):c.2568+18G>C
|
|
|
|
NM_001875.5(CPS1):c.2568+1G>A
|
|
|
|
NM_001875.5(CPS1):c.2568+21del
|
|
|
|
NM_001875.5(CPS1):c.2569-10C>T
|
|
|
|
NM_001875.5(CPS1):c.2569-18C>A
|
|
|
|
NM_001875.5(CPS1):c.2569-18C>G
|
|
|
|
NM_001875.5(CPS1):c.2569-20A>G
|
|
|
|
NM_001875.5(CPS1):c.2569-4G>A
|
rs2105865945
|
|
|
NM_001875.5(CPS1):c.2569-6T>G
|
rs2105865940
|
|
|
NM_001875.5(CPS1):c.2569-7T>C
|
|
|
|
NM_001875.5(CPS1):c.2573T>C (p.Ile858Thr)
|
|
|
|
NM_001875.5(CPS1):c.2579ACA[1] (p.Asn861del)
|
rs763006780
|
|
|
NM_001875.5(CPS1):c.2588C>T (p.Ser863Phe)
|
|
|
|
NM_001875.5(CPS1):c.2596G>A (p.Glu866Lys)
|
|
|
|
NM_001875.5(CPS1):c.2596G>T (p.Glu866Ter)
|
rs1233577562
|
|
|
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter)
|
rs1553507167
|
|
|
NM_001875.5(CPS1):c.2605_2606insGAAG (p.Lys869fs)
|
|
|
|
NM_001875.5(CPS1):c.2607G>A (p.Lys869=)
|
|
|
|
NM_001875.5(CPS1):c.2613A>G (p.Thr871=)
|
|
|
|
NM_001875.5(CPS1):c.2616C>A (p.Tyr872Ter)
|
rs1699309581
|
|
|
NM_001875.5(CPS1):c.2616C>T (p.Tyr872=)
|
rs1699309581
|
|
|
NM_001875.5(CPS1):c.261T>A (p.Pro87=)
|
|
|
|
NM_001875.5(CPS1):c.261T>C (p.Pro87=)
|
|
|
|
NM_001875.5(CPS1):c.2623A>T (p.Lys875Ter)
|
|
|
|
NM_001875.5(CPS1):c.2625G>A (p.Lys875=)
|
|
|
|
NM_001875.5(CPS1):c.2633T>A (p.Leu878Ter)
|
rs1699310308
|
|
|
NM_001875.5(CPS1):c.2634del (p.Leu878fs)
|
rs1699310540
|
|
|
NM_001875.5(CPS1):c.2640G>A (p.Lys880=)
|
|
|
|
NM_001875.5(CPS1):c.2645G>A (p.Arg882His)
|
|
|
|
NM_001875.5(CPS1):c.264C>T (p.Ala88=)
|
|
|
|
NM_001875.5(CPS1):c.2654T>C (p.Leu885Ser)
|
|
|
|
NM_001875.5(CPS1):c.2659A>G (p.Met887Val)
|
|
|
|
NM_001875.5(CPS1):c.2659A>T (p.Met887Leu)
|
rs1699312076
|
|
|
NM_001875.5(CPS1):c.2678G>T (p.Gly893Val)
|
|
|
|
NM_001875.5(CPS1):c.2687+10T>C
|
|
|
|
NM_001875.5(CPS1):c.2687+11G>A
|
|
|
|
NM_001875.5(CPS1):c.2687+14G>A
|
|
|
|
NM_001875.5(CPS1):c.2687+16T>G
|
|
|
|
NM_001875.5(CPS1):c.2687+17C>T
|
|
|
|
NM_001875.5(CPS1):c.2687+19C>A
|
|
|
|
NM_001875.5(CPS1):c.2687+20A>C
|
|
|
|
NM_001875.5(CPS1):c.2687+7C>T
|
|
|
|
NM_001875.5(CPS1):c.2687+9G>C
|
rs377094467
|
|
|
NM_001875.5(CPS1):c.2688-11T>C
|
|
|
|
NM_001875.5(CPS1):c.2688-12A>G
|
rs376699772
|
|
|
NM_001875.5(CPS1):c.2688-12A>T
|
rs376699772
|
|
|
NM_001875.5(CPS1):c.2688-16T>C
|
rs2105895298
|
|
|
NM_001875.5(CPS1):c.2688-1G>A
|
|
|
|
NM_001875.5(CPS1):c.2688-5C>T
|
rs1700078975
|
|
|
NM_001875.5(CPS1):c.2688-6T>C
|
rs2105895311
|
|
|
NM_001875.5(CPS1):c.2691G>A (p.Glu897=)
|
|
|
|
NM_001875.5(CPS1):c.2693C>A (p.Ser898Tyr)
|
rs1700079203
|
|
|
NM_001875.5(CPS1):c.2695A>G (p.Met899Val)
|
|
|
|
NM_001875.5(CPS1):c.2709C>A (p.Thr903=)
|
rs774243804
|
|
|
NM_001875.5(CPS1):c.2713A>T (p.Lys905Ter)
|
|
|
|
NM_001875.5(CPS1):c.2720C>A (p.Ala907Glu)
|
rs1700081346
|
|
|
NM_001875.5(CPS1):c.2720del (p.Ala907fs)
|
|
|
|
NM_001875.5(CPS1):c.2725G>T (p.Glu909Ter)
|
|
|
|
NM_001875.5(CPS1):c.2730T>C (p.Ile910=)
|
|
|
|
NM_001875.5(CPS1):c.2736C>T (p.Phe912=)
|
|
|
|
NM_001875.5(CPS1):c.2738C>A (p.Ser913Ter)
|
rs754706559
|
|
|
NM_001875.5(CPS1):c.273A>G (p.Gly91=)
|
|
|
|
NM_001875.5(CPS1):c.2747del (p.Gln916fs)
|
|
|
|
NM_001875.5(CPS1):c.2748G>A (p.Gln916=)
|
rs758815468
|
|
|
NM_001875.5(CPS1):c.2749A>G (p.Ile917Val)
|
rs886055552
|
|
|
NM_001875.5(CPS1):c.274C>T (p.Gln92Ter)
|
|
|
|
NM_001875.5(CPS1):c.2755A>T (p.Lys919Ter)
|
|
|
|
NM_001875.5(CPS1):c.2756A>C (p.Lys919Thr)
|
|
|
|
NM_001875.5(CPS1):c.2764G>A (p.Gly922Arg)
|
|
|
|
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile)
|
rs150463750
|
|
|
NM_001875.5(CPS1):c.2773G>T (p.Glu925Ter)
|
rs1700084097
|
|
|
NM_001875.5(CPS1):c.2779C>T (p.Gln927Ter)
|
|
|
|
NM_001875.5(CPS1):c.2784A>G (p.Thr928=)
|
|
|
|
NM_001875.5(CPS1):c.2796G>A (p.Arg932=)
|
rs2105895536
|
|
|
NM_001875.5(CPS1):c.2798del (p.Arg932_Leu933insTer)
|
rs1179151808
|
|
|
NM_001875.5(CPS1):c.27A>G (p.Lys9=)
|
|
|
|
NM_001875.5(CPS1):c.2808C>T (p.Asn936=)
|
|
|
|
NM_001875.5(CPS1):c.2817T>C (p.Pro939=)
|
|
|
|
NM_001875.5(CPS1):c.2819G>A (p.Trp940Ter)
|
rs1446095060
|
|
|
NM_001875.5(CPS1):c.281T>G (p.Leu94Arg)
|
rs1697713175
|
|
|
NM_001875.5(CPS1):c.2820G>A (p.Trp940Ter)
|
|
|
|
NM_001875.5(CPS1):c.2829+14C>G
|
|
|
|
NM_001875.5(CPS1):c.2829+15C>T
|
|
|
|
NM_001875.5(CPS1):c.2829+20C>G
|
rs1057524082
|
|
|
NM_001875.5(CPS1):c.2829+6G>A
|
|
|
|
NM_001875.5(CPS1):c.2829+8A>T
|
|
|
|
NM_001875.5(CPS1):c.2830-14G>A
|
|
|
|
NM_001875.5(CPS1):c.2830-14G>C
|
|
|
|
NM_001875.5(CPS1):c.2830-19T>C
|
rs1553516321
|
|
|
NM_001875.5(CPS1):c.2830-19_2830-15del
|
rs768083645
|
|
|
NM_001875.5(CPS1):c.2830-1G>C
|
|
|
|
NM_001875.5(CPS1):c.2830-1G>T
|
rs1700129715
|
|
|
NM_001875.5(CPS1):c.2830-20T>G
|
|
|
|
NM_001875.5(CPS1):c.2830-2A>G
|
|
|
|
NM_001875.5(CPS1):c.2830-5T>A
|
rs2105897309
|
|
|
NM_001875.5(CPS1):c.2835T>C (p.Asp945=)
|
|
|
|
NM_001875.5(CPS1):c.2838A>T (p.Thr946=)
|
|
|
|
NM_001875.5(CPS1):c.2839C>T (p.Leu947=)
|
rs1275836824
|
|
|
NM_001875.5(CPS1):c.283A>T (p.Thr95Ser)
|
|
|
|
NM_001875.5(CPS1):c.2853C>A (p.Tyr951Ter)
|
rs1028099185
|
|
|
NM_001875.5(CPS1):c.2856A>G (p.Pro952=)
|
|
|
|
NM_001875.5(CPS1):c.2868C>T (p.Asn956=)
|
|
|
|
NM_001875.5(CPS1):c.2871T>C (p.Tyr957=)
|
|
|
|
NM_001875.5(CPS1):c.2876A>G (p.Tyr959Cys)
|
|
|
|
NM_001875.5(CPS1):c.2876_2877del (p.Tyr959fs)
|
rs1296603906
|
|
|
NM_001875.5(CPS1):c.2877T>C (p.Tyr959=)
|
|
|
|
NM_001875.5(CPS1):c.2877T>G (p.Tyr959Ter)
|
|
|
|
NM_001875.5(CPS1):c.2884T>C (p.Tyr962His)
|
rs1700131234
|
|
|
NM_001875.5(CPS1):c.2885_2889del (p.Tyr962fs)
|
|
|
|
NM_001875.5(CPS1):c.2895+11G>C
|
|
|
|
NM_001875.5(CPS1):c.2895+16T>G
|
|
|
|
NM_001875.5(CPS1):c.2895+1G>A
|
|
|
|
NM_001875.5(CPS1):c.2895+20C>A
|
|
|
|
NM_001875.5(CPS1):c.2895+20C>T
|
|
|
|
NM_001875.5(CPS1):c.2895+2T>C
|
|
|
|
NM_001875.5(CPS1):c.2896-12T>C
|
|
|
|
NM_001875.5(CPS1):c.2896-3del
|
|
|
|
NM_001875.5(CPS1):c.2896-9T>C
|
|
|
|
NM_001875.5(CPS1):c.2908A>G (p.Asn970Asp)
|
|
|
|
NM_001875.5(CPS1):c.2913del (p.Phe971fs)
|
|
|
|
NM_001875.5(CPS1):c.2920del (p.His974fs)
|
|
|
|
NM_001875.5(CPS1):c.2922T>C (p.His974=)
|
rs2105898789
|
|
|
NM_001875.5(CPS1):c.2925A>G (p.Gly975=)
|
|
|
|
NM_001875.5(CPS1):c.2932G>T (p.Val978Leu)
|
rs779342929
|
|
|
NM_001875.5(CPS1):c.2934G>T (p.Val978=)
|
rs2105898803
|
|
|
NM_001875.5(CPS1):c.2940C>T (p.Gly980=)
|
rs752969364
|
|
|
NM_001875.5(CPS1):c.2943T>A (p.Cys981Ter)
|
|
|
|
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp)
|
rs121912595
|
|
|
NM_001875.5(CPS1):c.2946T>A (p.Gly982=)
|
rs2105898820
|
|
|
NM_001875.5(CPS1):c.2952T>C (p.Tyr984=)
|
|
|
|
NM_001875.5(CPS1):c.2959+14T>A
|
|
|
|
NM_001875.5(CPS1):c.2959+16A>T
|
|
|
|
NM_001875.5(CPS1):c.2959+19T>G
|
|
|
|
NM_001875.5(CPS1):c.2959+1del
|
rs1559121934
|
|
|
NM_001875.5(CPS1):c.2959+5A>G
|
rs745778375
|
|
|
NM_001875.5(CPS1):c.2959+6del
|
|
|
|
NM_001875.5(CPS1):c.2959+8_2959+14del
|
rs765645129
|
|
|
NM_001875.5(CPS1):c.2959+9A>G
|
rs1250053139
|
|
|
NM_001875.5(CPS1):c.2959+9A>T
|
rs1250053139
|
|
|
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys)
|
rs1553516443
|
|
|
NM_001875.5(CPS1):c.2960-10G>A
|
rs2105901496
|
|
|
NM_001875.5(CPS1):c.2960-13A>C
|
|
|
|
NM_001875.5(CPS1):c.2960-20C>T
|
|
|
|
NM_001875.5(CPS1):c.2960-9T>C
|
|
|
|
NM_001875.5(CPS1):c.2970G>A (p.Val990=)
|
rs1700256865
|
|
|
NM_001875.5(CPS1):c.2973A>G (p.Glu991=)
|
|
|
|
NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser)
|
|
|
|
NM_001875.5(CPS1):c.297T>G (p.Pro99=)
|
|
|
|
NM_001875.5(CPS1):c.2982G>C (p.Trp994Cys)
|
rs1700257191
|
|
|
NM_001875.5(CPS1):c.2985T>A (p.Cys995Ter)
|
rs1700257346
|
|
|
NM_001875.5(CPS1):c.2991C>G (p.Val997=)
|
|
|
|
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe)
|
rs1404696893
|
|
|
NM_001875.5(CPS1):c.2994T>G (p.Ser998=)
|
rs1574632330
|
|
|
NM_001875.5(CPS1):c.2997T>C (p.Ser999=)
|
rs766849843
|
|
|
NM_001875.5(CPS1):c.3000C>A (p.Ile1000=)
|
rs1700258062
|
|
|
NM_001875.5(CPS1):c.3001C>T (p.Arg1001Cys)
|
|
|
|
NM_001875.5(CPS1):c.3007C>T (p.Leu1003=)
|
rs1700258434
|
|
|
NM_001875.5(CPS1):c.3010C>T (p.Arg1004Cys)
|
|
|
|
NM_001875.5(CPS1):c.3015A>G (p.Gln1005=)
|
|
|
|
NM_001875.5(CPS1):c.301A>G (p.Ile101Val)
|
|
|
|
NM_001875.5(CPS1):c.301del (p.Ile101fs)
|
rs1553509303
|
|
|
NM_001875.5(CPS1):c.3025A>C (p.Lys1009Gln)
|
|
|
|
NM_001875.5(CPS1):c.3030G>C (p.Thr1010=)
|
|
|
|
NM_001875.5(CPS1):c.3031GTG[2] (p.Val1013del)
|
rs727502824
|
|
|
NM_001875.5(CPS1):c.3036G>A (p.Val1012=)
|
|
|
|
NM_001875.5(CPS1):c.3038_3039del (p.Val1013fs)
|
|
|
|
NM_001875.5(CPS1):c.303T>G (p.Ile101Met)
|
rs1559084624
|
|
|
NM_001875.5(CPS1):c.3042T>C (p.Asn1014=)
|
rs2105901623
|
|
|
NM_001875.5(CPS1):c.3045C>T (p.Cys1015=)
|
rs376618188
|
|
|
NM_001875.5(CPS1):c.3057T>A (p.Thr1019=)
|
rs150601728
|
|
|
NM_001875.5(CPS1):c.3062G>A (p.Ser1021Asn)
|
rs2105901649
|
|
|
NM_001875.5(CPS1):c.3067dup (p.Asp1023fs)
|
|
|
|
NM_001875.5(CPS1):c.3069C>A (p.Asp1023Glu)
|
|
|
|
NM_001875.5(CPS1):c.3069C>G (p.Asp1023Glu)
|
rs1559123272
|
|
|
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)
|
rs1288123680
|
|
|
NM_001875.5(CPS1):c.3075T>C (p.Asp1025=)
|
|
|
|
NM_001875.5(CPS1):c.3084C>T (p.Asp1028=)
|
|
|
|
NM_001875.5(CPS1):c.3088C>T (p.Leu1030=)
|
rs2105901680
|
|
|
NM_001875.5(CPS1):c.3096T>C (p.Phe1032=)
|
rs2105901699
|
|
|
NM_001875.5(CPS1):c.3100G>T (p.Glu1034Ter)
|
|
|
|
NM_001875.5(CPS1):c.3112G>C (p.Glu1038Gln)
|
rs1700263629
|
|
|
NM_001875.5(CPS1):c.3114G>A (p.Glu1038=)
|
rs2105901711
|
|
|
NM_001875.5(CPS1):c.3120C>T (p.Ile1040=)
|
|
|
|
NM_001875.5(CPS1):c.3125A>C (p.Asp1042Ala)
|
rs1574632659
|
|
|
NM_001875.5(CPS1):c.3126C>T (p.Asp1042=)
|
rs1358993534
|
|
|
NM_001875.5(CPS1):c.3132C>A (p.Tyr1044Ter)
|
rs1700264768
|
|
|
NM_001875.5(CPS1):c.3132C>G (p.Tyr1044Ter)
|
|
|
|
NM_001875.5(CPS1):c.3133C>T (p.His1045Tyr)
|
rs1222081568
|
|
|
NM_001875.5(CPS1):c.3136C>T (p.Gln1046Ter)
|
|
|
|
NM_001875.5(CPS1):c.3141+10G>C
|
|
|
|
NM_001875.5(CPS1):c.3141+15_3141+16insG
|
|
|
|
NM_001875.5(CPS1):c.3141+15del
|
rs577707531
|
|
|
NM_001875.5(CPS1):c.3141+16del
|
|
|
|
NM_001875.5(CPS1):c.3141+17A>T
|
|
|
|
NM_001875.5(CPS1):c.3141+18G>A
|
|
|
|
NM_001875.5(CPS1):c.3141+1G>A
|
rs1553516660
|
|
|
NM_001875.5(CPS1):c.3141+26del
|
|
|
|
NM_001875.5(CPS1):c.3141+26dup
|
|
|
|
NM_001875.5(CPS1):c.3141+2T>C
|
rs2105901763
|
|
|
NM_001875.5(CPS1):c.3142-17G>T
|
|
|
|
NM_001875.5(CPS1):c.3142-19T>C
|
|
|
|
NM_001875.5(CPS1):c.3142-4C>A
|
|
|
|
NM_001875.5(CPS1):c.3147T>A (p.Cys1049Ter)
|
rs1700428230
|
|
|
NM_001875.5(CPS1):c.3149G>A (p.Gly1050Asp)
|
|
|
|
NM_001875.5(CPS1):c.3151G>A (p.Gly1051Ser)
|
rs2105907837
|
|
|
NM_001875.5(CPS1):c.3169G>T (p.Gly1057Ter)
|
|
|
|
NM_001875.5(CPS1):c.3173G>C (p.Gly1058Ala)
|
rs1700429133
|
|
|
NM_001875.5(CPS1):c.317C>T (p.Ala106Val)
|
rs765026487
|
|
|
NM_001875.5(CPS1):c.3183A>G (p.Pro1061=)
|
rs2105907892
|
|
|
NM_001875.5(CPS1):c.3185del (p.Asn1062fs)
|
rs1553517122
|
|
|
NM_001875.5(CPS1):c.3190C>T (p.Leu1064=)
|
|
|
|
NM_001875.5(CPS1):c.319C>T (p.Pro107Ser)
|
|
|
|
NM_001875.5(CPS1):c.3204A>C (p.Leu1068=)
|
rs766909251
|
|
|
NM_001875.5(CPS1):c.3207C>T (p.Tyr1069=)
|
|
|
|
NM_001875.5(CPS1):c.3210G>A (p.Lys1070=)
|
rs1406035411
|
|
|
NM_001875.5(CPS1):c.3216T>C (p.Gly1072=)
|
rs1574638509
|
|
|
NM_001875.5(CPS1):c.3216del (p.Val1073fs)
|
rs2105907969
|
|
|
NM_001875.5(CPS1):c.3225C>T (p.Ile1075=)
|
rs1164414139
|
|
|
NM_001875.5(CPS1):c.3230G>A (p.Gly1077Asp)
|
|
|
|
NM_001875.5(CPS1):c.3237C>G (p.Ser1079Arg)
|
rs889511224
|
|
|
NM_001875.5(CPS1):c.3237C>T (p.Ser1079=)
|
|
|
|
NM_001875.5(CPS1):c.3241del (p.Leu1081fs)
|
|
|
|
NM_001875.5(CPS1):c.3242T>C (p.Leu1081Pro)
|
|
|
|
NM_001875.5(CPS1):c.3249C>T (p.Ile1083=)
|
rs751008875
|
|
|
NM_001875.5(CPS1):c.3250G>A (p.Asp1084Asn)
|
rs777363145
|
|
|
NM_001875.5(CPS1):c.3250G>C (p.Asp1084His)
|
rs777363145
|
|
|
NM_001875.5(CPS1):c.3261G>A (p.Glu1087=)
|
|
|
|
NM_001875.5(CPS1):c.3262G>A (p.Asp1088Asn)
|
|
|
|
NM_001875.5(CPS1):c.3266G>A (p.Arg1089His)
|
|
|
|
NM_001875.5(CPS1):c.3266G>C (p.Arg1089Pro)
|
|
|
|
NM_001875.5(CPS1):c.3266G>T (p.Arg1089Leu)
|
rs1280211937
|
|
|
NM_001875.5(CPS1):c.3267C>T (p.Arg1089=)
|
|
|
|
NM_001875.5(CPS1):c.3276C>T (p.Phe1092=)
|
|
|
|
NM_001875.5(CPS1):c.3276_3288del (p.Phe1092fs)
|
|
|
|
NM_001875.5(CPS1):c.3279A>T (p.Ser1093=)
|
|
|
|
NM_001875.5(CPS1):c.3282T>A (p.Ala1094=)
|
|
|
|
NM_001875.5(CPS1):c.3285C>T (p.Val1095=)
|
|
|
|
NM_001875.5(CPS1):c.3298A>T (p.Lys1100Ter)
|
|
|
|
NM_001875.5(CPS1):c.3304dup (p.Ala1102fs)
|
|
|
|
NM_001875.5(CPS1):c.3307C>T (p.Gln1103Ter)
|
rs1327048960
|
|
|
NM_001875.5(CPS1):c.330T>C (p.Thr110=)
|
rs777617670
|
|
|
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)
|
rs761921978
|
|
|
NM_001875.5(CPS1):c.3316T>C (p.Trp1106Arg)
|
rs1653256261
|
|
|
NM_001875.5(CPS1):c.3317G>A (p.Trp1106Ter)
|
|
|
|
NM_001875.5(CPS1):c.3319A>T (p.Lys1107Ter)
|
|
|
|
NM_001875.5(CPS1):c.3325G>A (p.Val1109Ile)
|
rs1405959957
|
|
|
NM_001875.5(CPS1):c.3330T>C (p.Asn1110=)
|
|
|
|
NM_001875.5(CPS1):c.3334T>C (p.Leu1112=)
|
rs1700437349
|
|
|
NM_001875.5(CPS1):c.3335T>C (p.Leu1112Ser)
|
|
|
|
NM_001875.5(CPS1):c.3336+10G>T
|
rs1233070918
|
|
|
NM_001875.5(CPS1):c.3336+13A>G
|
|
|
|
NM_001875.5(CPS1):c.3336+16A>C
|
|
|
|
NM_001875.5(CPS1):c.3336+16A>T
|
|
|
|
NM_001875.5(CPS1):c.3336+18T>A
|
|
|
|
NM_001875.5(CPS1):c.3336+18T>G
|
|
|
|
NM_001875.5(CPS1):c.3336+1G>A
|
rs1700437565
|
|
|
NM_001875.5(CPS1):c.3336+2T>A
|
|
|
|
NM_001875.5(CPS1):c.3336+5G>A
|
|
|
|
NM_001875.5(CPS1):c.3336+7A>G
|
rs1574638794
|
|
|
NM_001875.5(CPS1):c.3336G>A (p.Leu1112=)
|
rs772400341
|
|
|
NM_001875.5(CPS1):c.3337-14T>C
|
|
|
|
NM_001875.5(CPS1):c.3337-14T>G
|
|
|
|
NM_001875.5(CPS1):c.3337-17T>C
|
|
|
|
NM_001875.5(CPS1):c.3337-18G>A
|
|
|
|
NM_001875.5(CPS1):c.3337-1G>T
|
rs1700452978
|
|
|
NM_001875.5(CPS1):c.3337-8T>C
|
|
|
|
NM_001875.5(CPS1):c.3337-9A>T
|
|
|
|
NM_001875.5(CPS1):c.3349G>T (p.Glu1117Ter)
|
rs779856996
|
|
|
NM_001875.5(CPS1):c.334C>G (p.Leu112Val)
|
|
|
|
NM_001875.5(CPS1):c.334C>T (p.Leu112=)
|
rs149675371
|
|
|
NM_001875.5(CPS1):c.3358A>T (p.Lys1120Ter)
|
|
|
|
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs)
|
rs1700454068
|
|
|
NM_001875.5(CPS1):c.336G>C (p.Leu112=)
|
rs2106079689
|
|
|
NM_001875.5(CPS1):c.3373C>A (p.Pro1125Thr)
|
|
|
|
NM_001875.5(CPS1):c.3375C>T (p.Pro1125=)
|
rs1381512911
|
|
|
NM_001875.5(CPS1):c.3375del (p.Cys1126fs)
|
rs1553517224
|
|
|
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter)
|
rs2105908864
|
|
|
NM_001875.5(CPS1):c.3381G>A (p.Leu1127=)
|
|
|
|
NM_001875.5(CPS1):c.3382T>C (p.Leu1128=)
|
|
|
|
NM_001875.5(CPS1):c.3393C>T (p.Ser1131=)
|
|
|
|
NM_001875.5(CPS1):c.3396T>C (p.Tyr1132=)
|
rs1356882838
|
|
|
NM_001875.5(CPS1):c.3399T>C (p.Val1133=)
|
rs1700456740
|
|
|
NM_001875.5(CPS1):c.3399_3402del (p.Leu1134fs)
|
|
|
|
NM_001875.5(CPS1):c.33G>A (p.Val11=)
|
rs1696925949
|
|
|
NM_001875.5(CPS1):c.3404+10T>C
|
rs750058063
|
|
|
NM_001875.5(CPS1):c.3404+18T>G
|
|
|
|
NM_001875.5(CPS1):c.3404+1G>A
|
|
|
|
NM_001875.5(CPS1):c.3404+7C>G
|
|
|
|
NM_001875.5(CPS1):c.3404+9_3404+10del
|
rs557000347
|
|
|
NM_001875.5(CPS1):c.3405-13C>A
|
|
|
|
NM_001875.5(CPS1):c.3405-13dup
|
|
|
|
NM_001875.5(CPS1):c.3405-17T>C
|
|
|
|
NM_001875.5(CPS1):c.3405-2A>G
|
rs2105910926
|
|
|
NM_001875.5(CPS1):c.3405-4C>G
|
|
|
|
NM_001875.5(CPS1):c.3405-97C>T
|
rs62203740
|
|
|
NM_001875.5(CPS1):c.3405-9C>T
|
rs2105910915
|
|
|
NM_001875.5(CPS1):c.3408G>T (p.Gly1136=)
|
|
|
|
NM_001875.5(CPS1):c.340G>T (p.Glu114Ter)
|
|
|
|
NM_001875.5(CPS1):c.3412G>C (p.Ala1138Pro)
|
|
|
|
NM_001875.5(CPS1):c.3426A>G (p.Val1142=)
|
rs1700522774
|
|
|
NM_001875.5(CPS1):c.3428T>C (p.Phe1143Ser)
|
rs1700522933
|
|
|
NM_001875.5(CPS1):c.3438T>C (p.Asp1146=)
|
|
|
|
NM_001875.5(CPS1):c.3439G>A (p.Glu1147Lys)
|
rs1414071158
|
|
|
NM_001875.5(CPS1):c.3442A>T (p.Met1148Leu)
|
|
|
|
NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys)
|
rs1553517387
|
|
|
NM_001875.5(CPS1):c.3447A>G (p.Lys1149=)
|
rs1472914107
|
|
|
NM_001875.5(CPS1):c.3450A>G (p.Lys1150=)
|
rs2105911004
|
|
|
NM_001875.5(CPS1):c.3451T>C (p.Phe1151Leu)
|
|
|
|
NM_001875.5(CPS1):c.3454C>T (p.Leu1152=)
|
|
|
|
NM_001875.5(CPS1):c.3456A>C (p.Leu1152=)
|
|
|
|
NM_001875.5(CPS1):c.3456A>G (p.Leu1152=)
|
|
|
|
NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter)
|
rs1700523651
|
|
|
NM_001875.5(CPS1):c.345_351del (p.Gly116fs)
|
rs2106079710
|
|
|
NM_001875.5(CPS1):c.3462G>A (p.Glu1154=)
|
|
|
|
NM_001875.5(CPS1):c.3465G>A (p.Ala1155=)
|
rs772806744
|
|
|
NM_001875.5(CPS1):c.3465G>T (p.Ala1155=)
|
|
|
|
NM_001875.5(CPS1):c.3471A>G (p.Arg1157=)
|
rs2105911036
|
|
|
NM_001875.5(CPS1):c.3477T>G (p.Ser1159=)
|
|
|
|
NM_001875.5(CPS1):c.3478C>T (p.Gln1160Ter)
|
|
|
|
NM_001875.5(CPS1):c.347G>A (p.Gly116Glu)
|
|
|
|
NM_001875.5(CPS1):c.3480+15C>A
|
|
|
|
NM_001875.5(CPS1):c.3480+18T>G
|
|
|
|
NM_001875.5(CPS1):c.3480+5T>C
|
rs1700524730
|
|
|
NM_001875.5(CPS1):c.3480+7T>C
|
|
|
|
NM_001875.5(CPS1):c.3480+9C>T
|
|
|
|
NM_001875.5(CPS1):c.3481-11C>T
|
|
|
|
NM_001875.5(CPS1):c.3481-12C>T
|
|
|
|
NM_001875.5(CPS1):c.3481-2A>G
|
|
|
|
NM_001875.5(CPS1):c.3481-7G>A
|
rs368909569
|
|
|
NM_001875.5(CPS1):c.3481-7G>C
|
rs368909569
|
|
|
NM_001875.5(CPS1):c.3486_3496del (p.Pro1163fs)
|
rs1700635072
|
|
|
NM_001875.5(CPS1):c.3489A>G (p.Pro1163=)
|
rs1574646028
|
|
|
NM_001875.5(CPS1):c.348A>G (p.Gly116=)
|
|
|
|
NM_001875.5(CPS1):c.3498G>A (p.Leu1166=)
|
rs1342564191
|
|
|
NM_001875.5(CPS1):c.3498G>C (p.Leu1166=)
|
|
|
|
NM_001875.5(CPS1):c.349C>T (p.Leu117Phe)
|
rs2106079743
|
|
|
NM_001875.5(CPS1):c.3500C>A (p.Thr1167Lys)
|
|
|
|
NM_001875.5(CPS1):c.3503A>T (p.Lys1168Ile)
|
|
|
|
NM_001875.5(CPS1):c.3506TTG[1] (p.Val1170del)
|
|
|
|
NM_001875.5(CPS1):c.3509_3511delinsA (p.Val1170fs)
|
|
|
|
NM_001875.5(CPS1):c.3510T>C (p.Val1170=)
|
|
|
|
NM_001875.5(CPS1):c.3510T>G (p.Val1170=)
|
rs2105914973
|
|
|
NM_001875.5(CPS1):c.3510_3511del (p.Glu1171fs)
|
|
|
|
NM_001875.5(CPS1):c.3513A>G (p.Glu1171=)
|
rs750625969
|
|
|
NM_001875.5(CPS1):c.3517G>C (p.Ala1173Pro)
|
rs1574646079
|
|
|
NM_001875.5(CPS1):c.3520C>A (p.Arg1174=)
|
rs756337473
|
|
|
NM_001875.5(CPS1):c.3520C>T (p.Arg1174Ter)
|
rs756337473
|
|
|
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys)
|
rs146968493
|
|
|
NM_001875.5(CPS1):c.3523G>C (p.Glu1175Gln)
|
|
|
|
NM_001875.5(CPS1):c.3542_3546delinsA (p.Val1181fs)
|
|
|
|
NM_001875.5(CPS1):c.3543T>C (p.Val1181=)
|
|
|
|
NM_001875.5(CPS1):c.3543_3546del (p.Gly1182fs)
|
|
|
|
NM_001875.5(CPS1):c.3552T>C (p.Asp1184=)
|
rs769391518
|
|
|
NM_001875.5(CPS1):c.3558+11dup
|
rs2105915101
|
|
|
NM_001875.5(CPS1):c.3558+15C>A
|
|
|
|
NM_001875.5(CPS1):c.3558+17C>T
|
|
|
|
NM_001875.5(CPS1):c.3558+18A>G
|
|
|
|
NM_001875.5(CPS1):c.3558+1G>C
|
rs1559129372
|
|
|
NM_001875.5(CPS1):c.3558+20C>G
|
|
|
|
NM_001875.5(CPS1):c.3558+7G>C
|
rs764456030
|
|
|
NM_001875.5(CPS1):c.3558+8C>T
|
rs1700638481
|
|
|
NM_001875.5(CPS1):c.3558_3558+1dup
|
rs1553517670
|
|
|
NM_001875.5(CPS1):c.3559-15T>G
|
|
|
|
NM_001875.5(CPS1):c.3559-16T>A
|
|
|
|
NM_001875.5(CPS1):c.3559-16T>C
|
|
|
|
NM_001875.5(CPS1):c.3559-17T>A
|
|
|
|
NM_001875.5(CPS1):c.3559-20T>C
|
rs1181977935
|
|
|
NM_001875.5(CPS1):c.3559-2A>G
|
rs766584384
|
|
|
NM_001875.5(CPS1):c.3559-7_3559-6del
|
|
|
|
NM_001875.5(CPS1):c.3559-7del
|
rs58225253
|
|
|
NM_001875.5(CPS1):c.3559-8_3559-7del
|
rs58225253
|
|
|
NM_001875.5(CPS1):c.3559G>T (p.Val1187Phe)
|
|
|
|
NM_001875.5(CPS1):c.3565T>A (p.Ser1189Thr)
|
|
|
|
NM_001875.5(CPS1):c.3568C>T (p.His1190Tyr)
|
|
|
|
NM_001875.5(CPS1):c.3573C>T (p.Ala1191=)
|
|
|
|
NM_001875.5(CPS1):c.3576C>A (p.Ile1192=)
|
rs1204885910
|
|
|
NM_001875.5(CPS1):c.3576C>G (p.Ile1192Met)
|
|
|
|
NM_001875.5(CPS1):c.3579T>C (p.Ser1193=)
|
|
|
|
NM_001875.5(CPS1):c.3596C>A (p.Ala1199Glu)
|
rs751372173
|
|
|
NM_001875.5(CPS1):c.3597A>C (p.Ala1199=)
|
rs2105917877
|
|
|
NM_001875.5(CPS1):c.3608C>T (p.Ser1203Leu)
|
rs149518280
|
|
|
NM_001875.5(CPS1):c.3609G>T (p.Ser1203=)
|
rs148237524
|
|
|
NM_001875.5(CPS1):c.3610G>T (p.Gly1204Ter)
|
rs1700715255
|
|
|
NM_001875.5(CPS1):c.3622C>A (p.Leu1208Met)
|
|
|
|
NM_001875.5(CPS1):c.3622C>G (p.Leu1208Val)
|
|
|
|
NM_001875.5(CPS1):c.3622C>T (p.Leu1208=)
|
rs755531304
|
|
|
NM_001875.5(CPS1):c.3623T>A (p.Leu1208Gln)
|
rs2105917916
|
|
|
NM_001875.5(CPS1):c.3628C>T (p.Leu1210=)
|
rs1700715964
|
|
|
NM_001875.5(CPS1):c.3633C>T (p.Pro1211=)
|
rs2105917938
|
|
|
NM_001875.5(CPS1):c.3634A>G (p.Thr1212Ala)
|
|
|
|
NM_001875.5(CPS1):c.3637C>T (p.Gln1213Ter)
|
rs774692248
|
|
|
NM_001875.5(CPS1):c.3651A>G (p.Gln1217=)
|
|
|
|
NM_001875.5(CPS1):c.3655G>A (p.Ala1219Thr)
|
|
|
|
NM_001875.5(CPS1):c.3661G>T (p.Glu1221Ter)
|
|
|
|
NM_001875.5(CPS1):c.3666+12T>C
|
|
|
|
NM_001875.5(CPS1):c.3666+1G>T
|
rs761271604
|
|
|
NM_001875.5(CPS1):c.3666+1del
|
|
|
|
NM_001875.5(CPS1):c.3666+2del
|
|
|
|
NM_001875.5(CPS1):c.3666+4A>G
|
|
|
|
NM_001875.5(CPS1):c.3666+6_3666+8del
|
rs1219499475
|
|
|
NM_001875.5(CPS1):c.3666+76_3666+77dup
|
rs61108700
|
|
|
NM_001875.5(CPS1):c.3666+77dup
|
rs61108700
|
|
|
NM_001875.5(CPS1):c.3666+8T>C
|
rs2105918017
|
|
|
NM_001875.5(CPS1):c.3667-12T>A
|
|
|
|
NM_001875.5(CPS1):c.3667-12T>G
|
|
|
|
NM_001875.5(CPS1):c.3667-15T>C
|
|
|
|
NM_001875.5(CPS1):c.3669G>A (p.Val1223=)
|
|
|
|
NM_001875.5(CPS1):c.3672G>A (p.Lys1224=)
|
rs373326677
|
|
|
NM_001875.5(CPS1):c.3682del (p.Arg1228fs)
|
rs2105920599
|
|
|
NM_001875.5(CPS1):c.3683_3756+772del
|
|
|
|
NM_001875.5(CPS1):c.3687G>A (p.Lys1229=)
|
rs115897023
|
|
|
NM_001875.5(CPS1):c.3688A>G (p.Ile1230Val)
|
rs1700803697
|
|
|
NM_001875.5(CPS1):c.3695del (p.Lys1232fs)
|
|
|
|
NM_001875.5(CPS1):c.3696G>A (p.Lys1232=)
|
|
|
|
NM_001875.5(CPS1):c.3701T>A (p.Phe1234Tyr)
|
rs1700804080
|
|
|
NM_001875.5(CPS1):c.3711T>C (p.Ser1237=)
|
rs1559131877
|
|
|
NM_001875.5(CPS1):c.3714T>C (p.Gly1238=)
|
|
|
|
NM_001875.5(CPS1):c.3720C>T (p.Phe1240=)
|
rs2105920654
|
|
|
NM_001875.5(CPS1):c.372T>C (p.Asn124=)
|
|
|
|
NM_001875.5(CPS1):c.3736G>A (p.Val1246Ile)
|
rs753784617
|
|
|
NM_001875.5(CPS1):c.3742G>A (p.Gly1248Arg)
|
|
|
|
NM_001875.5(CPS1):c.3753C>G (p.Val1251=)
|
|
|
|
NM_001875.5(CPS1):c.3756+13A>G
|
|
|
|
NM_001875.5(CPS1):c.3756+3A>G
|
rs777990487
|
|
|
NM_001875.5(CPS1):c.3756+9T>A
|
rs2105920715
|
|
|
NM_001875.5(CPS1):c.3757-13T>C
|
|
|
|
NM_001875.5(CPS1):c.3757-17G>C
|
|
|
|
NM_001875.5(CPS1):c.3757-19T>G
|
|
|
|
NM_001875.5(CPS1):c.3757-1G>A
|
rs2105922845
|
|
|
NM_001875.5(CPS1):c.3757-7T>C
|
rs1574654116
|
|
|
NM_001875.5(CPS1):c.375A>G (p.Gly125=)
|
rs1697717041
|
|
|
NM_001875.5(CPS1):c.3763G>T (p.Glu1255Ter)
|
rs2105922857
|
|
|
NM_001875.5(CPS1):c.3765G>A (p.Glu1255=)
|
|
|
|
NM_001875.5(CPS1):c.3768T>A (p.Cys1256Ter)
|
rs1700881929
|
|
|
NM_001875.5(CPS1):c.3771C>T (p.Asn1257=)
|
|
|
|
NM_001875.5(CPS1):c.3775A>T (p.Arg1259Ter)
|
|
|
|
NM_001875.5(CPS1):c.3780T>C (p.Ala1260=)
|
rs2105922887
|
|
|
NM_001875.5(CPS1):c.3786A>G (p.Arg1262=)
|
|
|
|
NM_001875.5(CPS1):c.378C>A (p.Ile126=)
|
|
|
|
NM_001875.5(CPS1):c.3792C>T (p.Phe1264=)
|
|
|
|
NM_001875.5(CPS1):c.3793C>T (p.Pro1265Ser)
|
|
|
|
NM_001875.5(CPS1):c.3804C>T (p.Ser1268=)
|
|
|
|
NM_001875.5(CPS1):c.381+14T>C
|
|
|
|
NM_001875.5(CPS1):c.381+14T>G
|
|
|
|
NM_001875.5(CPS1):c.381+16G>C
|
|
|
|
NM_001875.5(CPS1):c.381+212C>T
|
rs13416489
|
|
|
NM_001875.5(CPS1):c.381+2T>C
|
rs1574543988
|
|
|
NM_001875.5(CPS1):c.381+9A>C
|
rs1447837168
|
|
|
NM_001875.5(CPS1):c.381+9A>G
|
rs1447837168
|
|
|
NM_001875.5(CPS1):c.3810T>C (p.Thr1270=)
|
|
|
|
NM_001875.5(CPS1):c.3812T>C (p.Leu1271Pro)
|
|
|
|
NM_001875.5(CPS1):c.3812_3813insAGTATTC (p.Gly1272fs)
|
|
|
|
NM_001875.5(CPS1):c.382-10_382-7del
|
rs1354079241
|
|
|
NM_001875.5(CPS1):c.382-11T>C
|
|
|
|
NM_001875.5(CPS1):c.382-134del
|
rs55986465
|
|
|
NM_001875.5(CPS1):c.382-134dup
|
rs55986465
|
|
|
NM_001875.5(CPS1):c.382-6T>G
|
|
|
|
NM_001875.5(CPS1):c.382-7T>C
|
rs1449373331
|
|
|
NM_001875.5(CPS1):c.382-8C>T
|
|
|
|
NM_001875.5(CPS1):c.3824_3825delinsGTCTCTT (p.Phe1275fs)
|
|
|
|
NM_001875.5(CPS1):c.3840C>T (p.Thr1280=)
|
|
|
|
NM_001875.5(CPS1):c.3843G>A (p.Lys1281=)
|
|
|
|
NM_001875.5(CPS1):c.3851T>C (p.Ile1284Thr)
|
|
|
|
NM_001875.5(CPS1):c.3857A>T (p.Glu1286Val)
|
rs886055554
|
|
|
NM_001875.5(CPS1):c.3858G>A (p.Glu1286=)
|
|
|
|
NM_001875.5(CPS1):c.3864T>C (p.Val1288=)
|
rs2105923010
|
|
|
NM_001875.5(CPS1):c.3869del (p.Glu1290fs)
|
|
|
|
NM_001875.5(CPS1):c.3870G>A (p.Glu1290=)
|
|
|
|
NM_001875.5(CPS1):c.3874C>T (p.His1292Tyr)
|
rs886055555
|
|
|
NM_001875.5(CPS1):c.3875A>G (p.His1292Arg)
|
|
|
|
NM_001875.5(CPS1):c.3882A>G (p.Pro1294=)
|
|
|
|
NM_001875.5(CPS1):c.3886T>C (p.Leu1296=)
|
rs763535883
|
|
|
NM_001875.5(CPS1):c.3897C>T (p.Pro1299=)
|
rs1167952434
|
|
|
NM_001875.5(CPS1):c.3903T>A (p.Ile1301=)
|
rs2105923081
|
|
|
NM_001875.5(CPS1):c.3903del (p.Pro1302fs)
|
rs1264586092
|
|
|
NM_001875.5(CPS1):c.3906T>G (p.Pro1302=)
|
rs750884050
|
|
|
NM_001875.5(CPS1):c.3909T>C (p.Ala1303=)
|
rs200579952
|
|
|
NM_001875.5(CPS1):c.3909T>G (p.Ala1303=)
|
rs200579952
|
|
|
NM_001875.5(CPS1):c.3910_3913del (p.Asp1304fs)
|
|
|
|
NM_001875.5(CPS1):c.3915T>A (p.Tyr1305Ter)
|
rs1700887978
|
|
|
NM_001875.5(CPS1):c.3915T>C (p.Tyr1305=)
|
|
|
|
NM_001875.5(CPS1):c.3918T>C (p.Val1306=)
|
|
|
|
NM_001875.5(CPS1):c.3927+11C>A
|
|
|
|
NM_001875.5(CPS1):c.3927+11C>T
|
|
|
|
NM_001875.5(CPS1):c.3927+149T>C
|
rs113202402
|
|
|
NM_001875.5(CPS1):c.3927+18T>G
|
|
|
|
NM_001875.5(CPS1):c.3927+19T>C
|
|
|
|
NM_001875.5(CPS1):c.3927+20A>G
|
|
|
|
NM_001875.5(CPS1):c.3927+20A>T
|
|
|
|
NM_001875.5(CPS1):c.3927+4A>G
|
|
|
|
NM_001875.5(CPS1):c.3927+5C>A
|
|
|
|
NM_001875.5(CPS1):c.3927+9T>C
|
rs2105923157
|
|
|
NM_001875.5(CPS1):c.3928-10T>C
|
rs1700977284
|
|
|
NM_001875.5(CPS1):c.3928-125dup
|
rs3214427
|
|
|
NM_001875.5(CPS1):c.3928-16T>A
|
|
|
|
NM_001875.5(CPS1):c.3928-16T>C
|
rs1057522781
|
|
|
NM_001875.5(CPS1):c.3928-19T>A
|
|
|
|
NM_001875.5(CPS1):c.3928-19T>G
|
rs77561958
|
|
|
NM_001875.5(CPS1):c.3928-20del
|
|
|
|
NM_001875.5(CPS1):c.3928-22_3928-20del
|
rs1700976248
|
|
|
NM_001875.5(CPS1):c.3928-4A>T
|
|
|
|
NM_001875.5(CPS1):c.3928-6C>T
|
rs1266870551
|
|
|
NM_001875.5(CPS1):c.3928-8_3928-7del
|
|
|
|
NM_001875.5(CPS1):c.3928-8del
|
rs397703682
|
|
|
NM_001875.5(CPS1):c.3928-8dup
|
|
|
|
NM_001875.5(CPS1):c.3928-9_3928-8del
|
rs397703682
|
|
|
NM_001875.5(CPS1):c.3928G>T (p.Ala1310Ser)
|
|
|
|
NM_001875.5(CPS1):c.3933del (p.Met1312fs)
|
|
|
|
NM_001875.5(CPS1):c.3934A>C (p.Met1312Leu)
|
|
|
|
NM_001875.5(CPS1):c.3935dup (p.Met1312fs)
|
rs2105926082
|
|
|
NM_001875.5(CPS1):c.3941C>T (p.Ser1314Phe)
|
|
|
|
NM_001875.5(CPS1):c.3944G>A (p.Trp1315Ter)
|
|
|
|
NM_001875.5(CPS1):c.3948C>G (p.Pro1316=)
|
rs777916457
|
|
|
NM_001875.5(CPS1):c.3949C>T (p.Arg1317Trp)
|
|
|
|
NM_001875.5(CPS1):c.394C>T (p.Leu132=)
|
rs2106081624
|
|
|
NM_001875.5(CPS1):c.3951G>T (p.Arg1317=)
|
|
|
|
NM_001875.5(CPS1):c.3952T>A (p.Leu1318Met)
|
rs769593170
|
|
|
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val)
|
rs769593170
|
|
|
NM_001875.5(CPS1):c.3953T>A (p.Leu1318Ter)
|
rs1700979727
|
|
|
NM_001875.5(CPS1):c.3955A>C (p.Arg1319=)
|
rs779756304
|
|
|
NM_001875.5(CPS1):c.3959A>T (p.Asp1320Val)
|
|
|
|
NM_001875.5(CPS1):c.3960T>C (p.Asp1320=)
|
rs1233768209
|
|
|
NM_001875.5(CPS1):c.3966C>T (p.Asp1322=)
|
rs2105926163
|
|
|
NM_001875.5(CPS1):c.3977_3978del (p.Arg1326fs)
|
|
|
|
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr)
|
rs1553518389
|
|
|
NM_001875.5(CPS1):c.3984G>A (p.Glu1328=)
|
rs1225017097
|
|
|
NM_001875.5(CPS1):c.3993C>T (p.Ser1331=)
|
rs2105926215
|
|
|
NM_001875.5(CPS1):c.39A>C (p.Thr13=)
|
rs755098080
|
|
|
NM_001875.5(CPS1):c.3G>T (p.Met1Ile)
|
rs1553507155
|
|
|
NM_001875.5(CPS1):c.4002+11A>G
|
|
|
|
NM_001875.5(CPS1):c.4002+19A>G
|
|
|
|
NM_001875.5(CPS1):c.4002+1G>T
|
|
|
|
NM_001875.5(CPS1):c.4002+2T>A
|
rs1553518395
|
|
|
NM_001875.5(CPS1):c.4003-109TG[15]
|
rs3217217
|
|
|
NM_001875.5(CPS1):c.4003-109TG[16]
|
rs3217217
|
|
|
NM_001875.5(CPS1):c.4003-109TG[17]
|
rs3217217
|
|
|
NM_001875.5(CPS1):c.4003-109TG[18]
|
rs3217217
|
|
|
NM_001875.5(CPS1):c.4003-109TG[6]
|
|
|
|
NM_001875.5(CPS1):c.4003-12A>G
|
rs534566099
|
|
|
NM_001875.5(CPS1):c.4003-15T>C
|
rs2105932989
|
|
|
NM_001875.5(CPS1):c.4003-16A>G
|
|
|
|
NM_001875.5(CPS1):c.4003-1G>C
|
rs1553518720
|
|
|
NM_001875.5(CPS1):c.4003-2A>C
|
|
|
|
NM_001875.5(CPS1):c.4003-2A>T
|
rs1553518719
|
|
|
NM_001875.5(CPS1):c.4003-7T>C
|
|
|
|
NM_001875.5(CPS1):c.4005G>T (p.Val1335=)
|
rs2105932999
|
|
|
NM_001875.5(CPS1):c.4018G>A (p.Glu1340Lys)
|
rs2105933010
|
|
|
NM_001875.5(CPS1):c.4026T>C (p.Ile1342=)
|
|
|
|
NM_001875.5(CPS1):c.4028_4030del (p.His1343_Thr1344delinsPro)
|
rs1701168525
|
|
|
NM_001875.5(CPS1):c.4029T>C (p.His1343=)
|
rs1286982785
|
|
|
NM_001875.5(CPS1):c.4034C>G (p.Ala1345Gly)
|
rs1701168860
|
|
|
NM_001875.5(CPS1):c.4035C>T (p.Ala1345=)
|
|
|
|
NM_001875.5(CPS1):c.4046C>G (p.Ala1349Gly)
|
rs1701169191
|
|
|
NM_001875.5(CPS1):c.4051C>T (p.Leu1351Phe)
|
|
|
|
NM_001875.5(CPS1):c.4056C>T (p.Ser1352=)
|
|
|
|
NM_001875.5(CPS1):c.4056del (p.Thr1353fs)
|
rs1553518726
|
|
|
NM_001875.5(CPS1):c.4066A>T (p.Lys1356Ter)
|
rs1305147387
|
|
|
NM_001875.5(CPS1):c.4075C>T (p.Gln1359Ter)
|
rs1701171267
|
|
|
NM_001875.5(CPS1):c.4077G>A (p.Gln1359=)
|
|
|
|
NM_001875.5(CPS1):c.407A>G (p.Tyr136Cys)
|
|
|
|
NM_001875.5(CPS1):c.4081G>T (p.Gly1361Cys)
|
|
|
|
NM_001875.5(CPS1):c.4082G>A (p.Gly1361Asp)
|
|
|
|
NM_001875.5(CPS1):c.4088_4099del (p.Leu1363_Ile1366del)
|
rs766705843
|
|
|
NM_001875.5(CPS1):c.4088dup (p.Ile1364fs)
|
|
|
|
NM_001875.5(CPS1):c.4089G>C (p.Leu1363=)
|
rs368890059
|
|
|
NM_001875.5(CPS1):c.4090A>G (p.Ile1364Val)
|
|
|
|
NM_001875.5(CPS1):c.4094G>A (p.Gly1365Asp)
|
rs1701172255
|
|
|
NM_001875.5(CPS1):c.4099C>T (p.Gln1367Ter)
|
rs1701172643
|
|
|
NM_001875.5(CPS1):c.4101+1G>T
|
|
|
|
NM_001875.5(CPS1):c.4101+2T>C
|
rs767575696
|
|
|
NM_001875.5(CPS1):c.4101G>A (p.Gln1367=)
|
|
|
|
NM_001875.5(CPS1):c.4102-11T>C
|
|
|
|
NM_001875.5(CPS1):c.4102-14A>T
|
|
|
|
NM_001875.5(CPS1):c.4102-1G>C
|
|
|
|
NM_001875.5(CPS1):c.4102-263A>G
|
rs4325692
|
|
|
NM_001875.5(CPS1):c.4102-342G>A
|
rs77039478
|
|
|
NM_001875.5(CPS1):c.4102-404dup
|
rs771522432
|
|
|
NM_001875.5(CPS1):c.4102-418C>A
|
rs7575474
|
|
|
NM_001875.5(CPS1):c.4102-419_4102-415del
|
rs59810738
|
|
|
NM_001875.5(CPS1):c.4102-419_4102-416del
|
rs1354312116
|
|
|
NM_001875.5(CPS1):c.4102-420del
|
rs66758310
|
|
|
NM_001875.5(CPS1):c.4102-420dup
|
rs66758310
|
|
|
NM_001875.5(CPS1):c.4102-559G>C
|
rs529803364
|
|
|
NM_001875.5(CPS1):c.4102-8C>G
|
|
|
|
NM_001875.5(CPS1):c.4102-9C>G
|
|
|
|
NM_001875.5(CPS1):c.4106C>T (p.Ser1369Leu)
|
|
|
|
NM_001875.5(CPS1):c.4109T>C (p.Phe1370Ser)
|
|
|
|
NM_001875.5(CPS1):c.410G>T (p.Ser137Ile)
|
rs2106081662
|
|
|
NM_001875.5(CPS1):c.4111C>A (p.Arg1371=)
|
|
|
|
NM_001875.5(CPS1):c.4111C>T (p.Arg1371Trp)
|
|
|
|
NM_001875.5(CPS1):c.4117A>C (p.Arg1373=)
|
|
|
|
NM_001875.5(CPS1):c.411T>A (p.Ser137Arg)
|
|
|
|
NM_001875.5(CPS1):c.4122C>T (p.Phe1374=)
|
rs1351524107
|
|
|
NM_001875.5(CPS1):c.4125T>C (p.Leu1375=)
|
rs2105942839
|
|
|
NM_001875.5(CPS1):c.4128T>C (p.Gly1376=)
|
rs777517524
|
|
|
NM_001875.5(CPS1):c.412A>C (p.Lys138Gln)
|
|
|
|
NM_001875.5(CPS1):c.4132G>A (p.Ala1378Thr)
|
|
|
|
NM_001875.5(CPS1):c.4140_4143dup (p.His1382fs)
|
|
|
|
NM_001875.5(CPS1):c.4159A>T (p.Lys1387Ter)
|
rs2105942900
|
|
|
NM_001875.5(CPS1):c.4161+13_4161+17del
|
|
|
|
NM_001875.5(CPS1):c.4161+18A>C
|
|
|
|
NM_001875.5(CPS1):c.4161+1G>A
|
|
|
|
NM_001875.5(CPS1):c.4161+20G>A
|
|
|
|
NM_001875.5(CPS1):c.4161+298A>T
|
rs62203749
|
|
|
NM_001875.5(CPS1):c.4161G>A (p.Lys1387=)
|
|
|
|
NM_001875.5(CPS1):c.4162-13A>G
|
|
|
|
NM_001875.5(CPS1):c.4162-16T>C
|
|
|
|
NM_001875.5(CPS1):c.4162-19T>G
|
|
|
|
NM_001875.5(CPS1):c.4162-20T>C
|
|
|
|
NM_001875.5(CPS1):c.4162-2A>G
|
|
|
|
NM_001875.5(CPS1):c.4162-3C>T
|
|
|
|
NM_001875.5(CPS1):c.4162-4G>A
|
rs2105944013
|
|
|
NM_001875.5(CPS1):c.4182A>C (p.Thr1394=)
|
rs2105944072
|
|
|
NM_001875.5(CPS1):c.4190G>A (p.Trp1397Ter)
|
|
|
|
NM_001875.5(CPS1):c.4191G>A (p.Trp1397Ter)
|
rs1172971002
|
|
|
NM_001875.5(CPS1):c.4197C>T (p.Asn1399=)
|
rs548201746
|
|
|
NM_001875.5(CPS1):c.4209C>A (p.Val1403=)
|
|
|
|
NM_001875.5(CPS1):c.420C>A (p.Tyr140Ter)
|
rs772576138
|
|
|
NM_001875.5(CPS1):c.420C>T (p.Tyr140=)
|
|
|
|
NM_001875.5(CPS1):c.4220C>T (p.Pro1407Leu)
|
|
|
|
NM_001875.5(CPS1):c.4221A>T (p.Pro1407=)
|
rs1252997852
|
|
|
NM_001875.5(CPS1):c.4224G>C (p.Val1408=)
|
rs2105944167
|
|
|
NM_001875.5(CPS1):c.4227A>C (p.Ala1409=)
|
rs1574678932
|
|
|
NM_001875.5(CPS1):c.422A>G (p.Asn141Ser)
|
|
|
|
NM_001875.5(CPS1):c.4231C>T (p.Pro1411Ser)
|
|
|
|
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu)
|
rs1202306773
|
|
|
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)
|
|
|
|
NM_001875.5(CPS1):c.4239A>G (p.Gln1413=)
|
|
|
|
NM_001875.5(CPS1):c.4246C>T (p.Gln1416Ter)
|
|
|
|
NM_001875.5(CPS1):c.4248G>A (p.Gln1416=)
|
|
|
|
NM_001875.5(CPS1):c.4252C>G (p.Pro1418Ala)
|
|
|
|
NM_001875.5(CPS1):c.4254C>T (p.Pro1418=)
|
|
|
|
NM_001875.5(CPS1):c.4266C>T (p.Ser1422=)
|
rs1389889942
|
|
|
NM_001875.5(CPS1):c.4273A>T (p.Lys1425Ter)
|
|
|
|
NM_001875.5(CPS1):c.4274+10A>C
|
rs1701512309
|
|
|
NM_001875.5(CPS1):c.4274+10A>G
|
|
|
|
NM_001875.5(CPS1):c.4274+12G>A
|
|
|
|
NM_001875.5(CPS1):c.4274+14A>G
|
|
|
|
NM_001875.5(CPS1):c.4274+16A>T
|
|
|
|
NM_001875.5(CPS1):c.4274+19G>A
|
|
|
|
NM_001875.5(CPS1):c.4274+20T>C
|
|
|
|
NM_001875.5(CPS1):c.4274+8C>A
|
|
|
|
NM_001875.5(CPS1):c.4274+8C>T
|
rs753409248
|
|
|
NM_001875.5(CPS1):c.4275-13T>C
|
|
|
|
NM_001875.5(CPS1):c.4275-15T>G
|
rs2105945904
|
|
|
NM_001875.5(CPS1):c.4275-16T>C
|
|
|
|
NM_001875.5(CPS1):c.4275-2A>C
|
rs2105945930
|
|
|
NM_001875.5(CPS1):c.4275-5del
|
|
|
|
NM_001875.5(CPS1):c.4275-6T>C
|
rs2105945922
|
|
|
NM_001875.5(CPS1):c.4275-7T>C
|
|
|
|
NM_001875.5(CPS1):c.4283G>C (p.Arg1428Thr)
|
|
|
|
NM_001875.5(CPS1):c.4312C>A (p.Leu1438Ile)
|
|
|
|
NM_001875.5(CPS1):c.4317C>T (p.Pro1439=)
|
rs534152112
|
|
|
NM_001875.5(CPS1):c.4320C>T (p.Asn1440=)
|
|
|
|
NM_001875.5(CPS1):c.4325A>G (p.Asn1442Ser)
|
|
|
|
NM_001875.5(CPS1):c.4326del (p.Asn1442fs)
|
|
|
|
NM_001875.5(CPS1):c.4332A>G (p.Lys1444=)
|
rs2105946027
|
|
|
NM_001875.5(CPS1):c.4357C>A (p.Arg1453=)
|
|
|
|
NM_001875.5(CPS1):c.4358G>A (p.Arg1453Gln)
|
rs1559142152
|
|
|
NM_001875.5(CPS1):c.4364C>T (p.Thr1455Ile)
|
|
|
|
NM_001875.5(CPS1):c.4365A>G (p.Thr1455=)
|
|
|
|
NM_001875.5(CPS1):c.4368T>G (p.Ala1456=)
|
|
|
|
NM_001875.5(CPS1):c.4371T>A (p.Val1457=)
|
|
|
|
NM_001875.5(CPS1):c.4371T>C (p.Val1457=)
|
|
|
|
NM_001875.5(CPS1):c.4373A>T (p.Asp1458Val)
|
rs1701560653
|
|
|
NM_001875.5(CPS1):c.4374T>C (p.Asp1458=)
|
rs1701560758
|
|
|
NM_001875.5(CPS1):c.4377T>C (p.Ser1459=)
|
rs2105946112
|
|
|
NM_001875.5(CPS1):c.4382T>A (p.Ile1461Asn)
|
rs1559142189
|
|
|
NM_001875.5(CPS1):c.4383C>T (p.Ile1461=)
|
rs1160139631
|
|
|
NM_001875.5(CPS1):c.4388T>C (p.Leu1463Pro)
|
|
|
|
NM_001875.5(CPS1):c.4389C>T (p.Leu1463=)
|
|
|
|
NM_001875.5(CPS1):c.4392C>T (p.Leu1464=)
|
|
|
|
NM_001875.5(CPS1):c.4395T>C (p.Thr1465=)
|
|
|
|
NM_001875.5(CPS1):c.4401T>G (p.Phe1467Leu)
|
rs2105946163
|
|
|
NM_001875.5(CPS1):c.4404+11T>C
|
|
|
|
NM_001875.5(CPS1):c.4404+19A>G
|
|
|
|
NM_001875.5(CPS1):c.4404+3A>G
|
|
|
|
NM_001875.5(CPS1):c.4404+8C>A
|
|
|
|
NM_001875.5(CPS1):c.4405-10A>G
|
|
|
|
NM_001875.5(CPS1):c.4405-14C>T
|
|
|
|
NM_001875.5(CPS1):c.4405-15C>T
|
|
|
|
NM_001875.5(CPS1):c.4405-8A>C
|
|
|
|
NM_001875.5(CPS1):c.4412A>T (p.Lys1471Ile)
|
rs762221038
|
|
|
NM_001875.5(CPS1):c.4413A>G (p.Lys1471=)
|
|
|
|
NM_001875.5(CPS1):c.4414C>T (p.Leu1472Phe)
|
|
|
|
NM_001875.5(CPS1):c.4422T>C (p.Ala1474=)
|
|
|
|
NM_001875.5(CPS1):c.4428T>G (p.Ala1476=)
|
|
|
|
NM_001875.5(CPS1):c.442A>G (p.Ser148Gly)
|
|
|
|
NM_001875.5(CPS1):c.442A>T (p.Ser148Cys)
|
|
|
|
NM_001875.5(CPS1):c.4437A>G (p.Lys1479=)
|
|
|
|
NM_001875.5(CPS1):c.4441C>T (p.Arg1481Cys)
|
|
|
|
NM_001875.5(CPS1):c.4442G>A (p.Arg1481His)
|
|
|
|
NM_001875.5(CPS1):c.4442G>C (p.Arg1481Pro)
|
|
|
|
NM_001875.5(CPS1):c.4449G>A (p.Val1483=)
|
|
|
|
NM_001875.5(CPS1):c.4457A>G (p.Lys1486Arg)
|
|
|
|
NM_001875.5(CPS1):c.4463T>C (p.Leu1488Pro)
|
|
|
|
NM_001875.5(CPS1):c.4469A>G (p.His1490Arg)
|
rs2105947140
|
|
|
NM_001875.5(CPS1):c.4470C>T (p.His1490=)
|
|
|
|
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His)
|
rs1553519513
|
|
|
NM_001875.5(CPS1):c.4476G>A (p.Arg1492=)
|
|
|
|
NM_001875.5(CPS1):c.4478A>C (p.Gln1493Pro)
|
rs2105947164
|
|
|
NM_001875.5(CPS1):c.4479G>A (p.Gln1493=)
|
|
|
|
NM_001875.5(CPS1):c.4483A>G (p.Ser1495Gly)
|
|
|
|
NM_001875.5(CPS1):c.4494A>G (p.Lys1498=)
|
rs2105947204
|
|
|
NM_001875.5(CPS1):c.4500A>G (p.Ala1500=)
|
|
|
|
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu)
|
rs762494955
|
|
|
NM_001875.5(CPS1):c.450G>A (p.Gly150=)
|
|
|
|
NM_001875.5(CPS1):c.450G>T (p.Gly150=)
|
|
|
|
NM_001875.5(CPS1):c.459A>C (p.Leu153=)
|
|
|
|
NM_001875.5(CPS1):c.459A>G (p.Leu153=)
|
rs2106081768
|
|
|
NM_001875.5(CPS1):c.45G>A (p.Lys15=)
|
|
|
|
NM_001875.5(CPS1):c.460C>T (p.Gln154Ter)
|
|
|
|
NM_001875.5(CPS1):c.462G>A (p.Gln154=)
|
rs2106081775
|
|
|
NM_001875.5(CPS1):c.465A>G (p.Glu155=)
|
|
|
|
NM_001875.5(CPS1):c.471+10G>A
|
|
|
|
NM_001875.5(CPS1):c.471+18G>A
|
|
|
|
NM_001875.5(CPS1):c.471+9T>C
|
rs1697753704
|
|
|
NM_001875.5(CPS1):c.472-16A>C
|
|
|
|
NM_001875.5(CPS1):c.472-17C>T
|
|
|
|
NM_001875.5(CPS1):c.472-19T>C
|
|
|
|
NM_001875.5(CPS1):c.472-4A>G
|
|
|
|
NM_001875.5(CPS1):c.472-8dup
|
rs761912505
|
|
|
NM_001875.5(CPS1):c.481A>G (p.Ile161Val)
|
|
|
|
NM_001875.5(CPS1):c.486T>A (p.Tyr162Ter)
|
|
|
|
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter)
|
rs200214298
|
|
|
NM_001875.5(CPS1):c.504G>T (p.Met168Ile)
|
rs1194500413
|
|
|
NM_001875.5(CPS1):c.513A>G (p.Lys171=)
|
|
|
|
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp)
|
rs1553509661
|
|
|
NM_001875.5(CPS1):c.521G>A (p.Arg174Gln)
|
|
|
|
NM_001875.5(CPS1):c.528+10T>A
|
|
|
|
NM_001875.5(CPS1):c.528+10T>C
|
rs772104742
|
|
|
NM_001875.5(CPS1):c.528+11C>T
|
|
|
|
NM_001875.5(CPS1):c.528+12A>G
|
|
|
|
NM_001875.5(CPS1):c.528+17T>C
|
|
|
|
NM_001875.5(CPS1):c.528+2T>C
|
rs1574548003
|
|
|
NM_001875.5(CPS1):c.528+40GT[11]
|
rs35833900
|
|
|
NM_001875.5(CPS1):c.528G>A (p.Lys176=)
|
rs1559086441
|
|
|
NM_001875.5(CPS1):c.529-11dup
|
|
|
|
NM_001875.5(CPS1):c.529-15T>A
|
rs947763938
|
|
|
NM_001875.5(CPS1):c.529-15T>G
|
|
|
|
NM_001875.5(CPS1):c.529-20T>G
|
|
|
|
NM_001875.5(CPS1):c.529-5G>T
|
|
|
|
NM_001875.5(CPS1):c.529-6T>C
|
|
|
|
NM_001875.5(CPS1):c.531T>A (p.Gly177=)
|
rs374019321
|
|
|
NM_001875.5(CPS1):c.543G>A (p.Gly181=)
|
rs2106091897
|
|
|
NM_001875.5(CPS1):c.546G>A (p.Lys182=)
|
|
|
|
NM_001875.5(CPS1):c.549T>G (p.Ile183Met)
|
|
|
|
NM_001875.5(CPS1):c.552A>G (p.Glu184=)
|
rs2106091934
|
|
|
NM_001875.5(CPS1):c.563A>G (p.Gln188Arg)
|
|
|
|
NM_001875.5(CPS1):c.567T>A (p.Pro189=)
|
|
|
|
NM_001875.5(CPS1):c.568G>A (p.Val190Met)
|
|
|
|
NM_001875.5(CPS1):c.57C>T (p.Gly19=)
|
rs2106037275
|
|
|
NM_001875.5(CPS1):c.593A>C (p.Gln198Pro)
|
rs1376851408
|
|
|
NM_001875.5(CPS1):c.594_595del (p.Asn199fs)
|
rs1553509924
|
|
|
NM_001875.5(CPS1):c.616A>T (p.Thr206Ser)
|
|
|
|
NM_001875.5(CPS1):c.618C>A (p.Thr206=)
|
rs1697965317
|
|
|
NM_001875.5(CPS1):c.621+13C>T
|
|
|
|
NM_001875.5(CPS1):c.621+17T>G
|
|
|
|
NM_001875.5(CPS1):c.621+7G>A
|
|
|
|
NM_001875.5(CPS1):c.621+8del
|
rs1574551647
|
|
|
NM_001875.5(CPS1):c.622-11T>C
|
|
|
|
NM_001875.5(CPS1):c.622-182_622-181del
|
rs149496892
|
|
|
NM_001875.5(CPS1):c.622-2A>G
|
rs2106103778
|
|
|
NM_001875.5(CPS1):c.622-3C>T
|
rs1574557868
|
|
|
NM_001875.5(CPS1):c.622-4dup
|
|
|
|
NM_001875.5(CPS1):c.642A>G (p.Lys214=)
|
rs2106103827
|
|
|
NM_001875.5(CPS1):c.651del (p.Thr218fs)
|
|
|
|
NM_001875.5(CPS1):c.654A>G (p.Thr218=)
|
|
|
|
NM_001875.5(CPS1):c.654A>T (p.Thr218=)
|
|
|
|
NM_001875.5(CPS1):c.660G>T (p.Val220=)
|
rs2106103871
|
|
|
NM_001875.5(CPS1):c.669A>G (p.Val223=)
|
rs2106103890
|
|
|
NM_001875.5(CPS1):c.66T>C (p.Asn22=)
|
rs2106037321
|
|
|
NM_001875.5(CPS1):c.672C>T (p.Asp224=)
|
|
|
|
NM_001875.5(CPS1):c.674G>C (p.Cys225Ser)
|
|
|
|
NM_001875.5(CPS1):c.675T>C (p.Cys225=)
|
rs2106103901
|
|
|
NM_001875.5(CPS1):c.675_676del (p.Cys225fs)
|
|
|
|
NM_001875.5(CPS1):c.677G>T (p.Gly226Val)
|
rs2106103911
|
|
|
NM_001875.5(CPS1):c.678G>A (p.Gly226=)
|
|
|
|
NM_001875.5(CPS1):c.681del (p.Asn229fs)
|
|
|
|
NM_001875.5(CPS1):c.687C>T (p.Asn229=)
|
|
|
|
NM_001875.5(CPS1):c.693A>C (p.Val231=)
|
|
|
|
NM_001875.5(CPS1):c.696C>A (p.Ile232=)
|
|
|
|
NM_001875.5(CPS1):c.700C>T (p.Leu234=)
|
|
|
|
NM_001875.5(CPS1):c.705A>G (p.Leu235=)
|
rs1574558005
|
|
|
NM_001875.5(CPS1):c.708A>C (p.Val236=)
|
rs2106103973
|
|
|
NM_001875.5(CPS1):c.70A>G (p.Thr24Ala)
|
|
|
|
NM_001875.5(CPS1):c.711+15C>A
|
|
|
|
NM_001875.5(CPS1):c.711+15C>T
|
|
|
|
NM_001875.5(CPS1):c.711+16A>G
|
|
|
|
NM_001875.5(CPS1):c.711+18T>G
|
|
|
|
NM_001875.5(CPS1):c.711+1G>A
|
|
|
|
NM_001875.5(CPS1):c.711+1G>C
|
rs1553510520
|
|
|
NM_001875.5(CPS1):c.711+1G>T
|
|
|
|
NM_001875.5(CPS1):c.711+7A>G
|
rs756703955
|
|
|
NM_001875.5(CPS1):c.711+8A>G
|
rs2106104009
|
|
|
NM_001875.5(CPS1):c.712-11C>G
|
|
|
|
NM_001875.5(CPS1):c.712-16del
|
|
|
|
NM_001875.5(CPS1):c.712-18C>T
|
|
|
|
NM_001875.5(CPS1):c.712-1G>T
|
|
|
|
NM_001875.5(CPS1):c.712-8T>C
|
|
|
|
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)
|
rs761225695
|
|
|
NM_001875.5(CPS1):c.717A>G (p.Gly239=)
|
rs1220254817
|
|
|
NM_001875.5(CPS1):c.720T>C (p.Ala240=)
|
|
|
|
NM_001875.5(CPS1):c.726G>T (p.Val242=)
|
|
|
|
NM_001875.5(CPS1):c.729C>G (p.His243Gln)
|
|
|
|
NM_001875.5(CPS1):c.730T>C (p.Leu244=)
|
rs1698241536
|
|
|
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer)
|
rs778346264
|
|
|
NM_001875.5(CPS1):c.737C>T (p.Pro246Leu)
|
rs2106107599
|
|
|
NM_001875.5(CPS1):c.738C>T (p.Pro246=)
|
rs1698242132
|
|
|
NM_001875.5(CPS1):c.747T>C (p.His249=)
|
rs1574560501
|
|
|
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
|
|
|
|
NM_001875.5(CPS1):c.74C>T (p.Ala25Val)
|
rs149570645
|
|
|
NM_001875.5(CPS1):c.753C>T (p.Phe251=)
|
rs2106107631
|
|
|
NM_001875.5(CPS1):c.754A>G (p.Thr252Ala)
|
|
|
|
NM_001875.5(CPS1):c.762G>A (p.Met254Ile)
|
|
|
|
NM_001875.5(CPS1):c.763G>A (p.Glu255Lys)
|
|
|
|
NM_001875.5(CPS1):c.763G>T (p.Glu255Ter)
|
rs756021170
|
|
|
NM_001875.5(CPS1):c.768T>C (p.Tyr256=)
|
rs2106107683
|
|
|
NM_001875.5(CPS1):c.773G>C (p.Gly258Ala)
|
rs778299777
|
|
|
NM_001875.5(CPS1):c.783C>A (p.Ile261=)
|
|
|
|
NM_001875.5(CPS1):c.784G>A (p.Ala262Thr)
|
|
|
|
NM_001875.5(CPS1):c.786G>T (p.Ala262=)
|
|
|
|
NM_001875.5(CPS1):c.78C>T (p.His26=)
|
rs745616278
|
|
|
NM_001875.5(CPS1):c.793C>A (p.Pro265Thr)
|
rs2106107745
|
|
|
NM_001875.5(CPS1):c.794C>T (p.Pro265Leu)
|
|
|
|
NM_001875.5(CPS1):c.798del (p.Asn267fs)
|
rs1553510944
|
|
|
NM_001875.5(CPS1):c.79C>T (p.Gln27Ter)
|
|
|
|
NM_001875.5(CPS1):c.79del (p.Gln27fs)
|
|
|
|
NM_001875.5(CPS1):c.801C>T (p.Asn267=)
|
|
|
|
NM_001875.5(CPS1):c.813A>C (p.Ala271=)
|
rs964016238
|
|
|
NM_001875.5(CPS1):c.816A>G (p.Glu272=)
|
rs1559092314
|
|
|
NM_001875.5(CPS1):c.817C>G (p.Pro273Ala)
|
|
|
|
NM_001875.5(CPS1):c.819A>C (p.Pro273=)
|
|
|
|
NM_001875.5(CPS1):c.828G>T (p.Gln276His)
|
|
|
|
NM_001875.5(CPS1):c.840+11C>T
|
|
|
|
NM_001875.5(CPS1):c.840+12C>T
|
|
|
|
NM_001875.5(CPS1):c.840+1G>T
|
rs1206168005
|
|
|
NM_001875.5(CPS1):c.840+6A>G
|
rs1477495553
|
|
|
NM_001875.5(CPS1):c.840+7T>C
|
|
|
|
NM_001875.5(CPS1):c.840+9A>G
|
rs754876051
|
|
|
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn)
|
rs753751183
|
|
|
NM_001875.5(CPS1):c.840_840+5dup
|
rs1273243029
|
|
|
NM_001875.5(CPS1):c.841-10C>G
|
rs766131653
|
|
|
NM_001875.5(CPS1):c.841-13C>A
|
|
|
|
NM_001875.5(CPS1):c.841-18A>C
|
|
|
|
NM_001875.5(CPS1):c.841-8T>C
|
|
|
|
NM_001875.5(CPS1):c.841-9C>T
|
|
|
|
NM_001875.5(CPS1):c.857G>A (p.Arg286His)
|
|
|
|
NM_001875.5(CPS1):c.864G>A (p.Glu288=)
|
|
|
|
NM_001875.5(CPS1):c.866del (p.Pro289fs)
|
|
|
|
NM_001875.5(CPS1):c.869dup (p.Leu290fs)
|
|
|
|
NM_001875.5(CPS1):c.86G>A (p.Trp29Ter)
|
|
|
|
NM_001875.5(CPS1):c.876A>T (p.Gly292=)
|
rs2106108942
|
|
|
NM_001875.5(CPS1):c.879C>T (p.Ile293=)
|
|
|
|
NM_001875.5(CPS1):c.882T>C (p.Ser294=)
|
rs781583758
|
|
|
NM_001875.5(CPS1):c.888A>G (p.Gly296=)
|
|
|
|
NM_001875.5(CPS1):c.891C>A (p.Asn297Lys)
|
rs1698268978
|
|
|
NM_001875.5(CPS1):c.895A>G (p.Ile299Val)
|
rs2106108999
|
|
|
NM_001875.5(CPS1):c.904T>A (p.Leu302Met)
|
|
|
|
NM_001875.5(CPS1):c.906G>C (p.Leu302Phe)
|
|
|
|
NM_001875.5(CPS1):c.911C>T (p.Ala304Val)
|
|
|
|
NM_001875.5(CPS1):c.914G>T (p.Gly305Val)
|
|
|
|
NM_001875.5(CPS1):c.924C>G (p.Thr308=)
|
|
|
|
NM_001875.5(CPS1):c.927C>G (p.Tyr309Ter)
|
|
|
|
NM_001875.5(CPS1):c.927C>T (p.Tyr309=)
|
rs1553511083
|
|
|
NM_001875.5(CPS1):c.945C>G (p.Asn315Lys)
|
rs761974037
|
|
|
NM_001875.5(CPS1):c.945C>T (p.Asn315=)
|
|
|
|
NM_001875.5(CPS1):c.946A>T (p.Arg316Ter)
|
|
|
|
NM_001875.5(CPS1):c.947+1G>A
|
rs2106109125
|
|
|
NM_001875.5(CPS1):c.948-14C>T
|
|
|
|
NM_001875.5(CPS1):c.948-16C>A
|
|
|
|
NM_001875.5(CPS1):c.948-18_948-17del
|
|
|
|
NM_001875.5(CPS1):c.948-4C>A
|
|
|
|
NM_001875.5(CPS1):c.948-4C>T
|
|
|
|
NM_001875.5(CPS1):c.948-6del
|
|
|
|
NM_001875.5(CPS1):c.948-7T>C
|
|
|
|
NM_001875.5(CPS1):c.948-9del
|
|
|
|
NM_001875.5(CPS1):c.951G>A (p.Gly317=)
|
rs2106110944
|
|
|
NM_001875.5(CPS1):c.952C>A (p.Gln318Lys)
|
|
|
|
NM_001875.5(CPS1):c.952C>T (p.Gln318Ter)
|
|
|
|
NM_001875.5(CPS1):c.958C>T (p.Gln320Ter)
|
|
|
|
NM_001875.5(CPS1):c.960G>A (p.Gln320=)
|
rs184908948
|
|
|
NM_001875.5(CPS1):c.972T>G (p.Asn324Lys)
|
|
|
|
NM_001875.5(CPS1):c.975C>T (p.Ile325=)
|
rs749977878
|
|
|
NM_001875.5(CPS1):c.981C>T (p.Asn327=)
|
|
|
|
NM_001875.5(CPS1):c.982A>T (p.Lys328Ter)
|
|
|
|
NM_001875.5(CPS1):c.984A>G (p.Lys328=)
|
|
|
|
NM_001875.5(CPS1):c.990T>C (p.Ala330=)
|
rs2106111046
|
|
|
NM_001875.5(CPS1):c.9G>A (p.Arg3=)
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rs2106037152
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