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.841-243A>G
|
rs2302911
|
0.51166
|
NM_001875.5(CPS1):c.1549+268C>T
|
rs12991680
|
0.48586
|
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.4102-476G>A
|
rs11902281
|
0.34176
|
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.4003-207C>T
|
rs2287596
|
0.25340
|
NM_001875.5(CPS1):c.3756+45C>T
|
rs6435580
|
0.24723
|
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.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.2193-200G>A
|
rs73984647
|
0.02999
|
NM_001875.5(CPS1):c.3927+41A>G
|
rs41272671
|
0.02968
|
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.4405-132A>T
|
rs77615405
|
0.02011
|
NM_001875.5(CPS1):c.3666+66T>C
|
rs114543766
|
0.01936
|
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.3927+205C>T
|
rs115644180
|
0.01774
|
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_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.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.947+84T>C
|
rs78693997
|
0.00816
|
NM_001875.5(CPS1):c.948-64A>C
|
rs79677229
|
0.00744
|
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.486T>C (p.Tyr162=)
|
rs138779023
|
0.00295
|
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.783C>T (p.Ile261=)
|
rs142468138
|
0.00174
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
NM_001875.5(CPS1):c.1416T>C (p.Asn472=)
|
rs148204462
|
0.00071
|
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.1021T>G (p.Leu341Val)
|
rs138424013
|
0.00049
|
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)
|
rs141481633
|
0.00043
|
NM_001875.5(CPS1):c.1569A>G (p.Arg523=)
|
rs140475976
|
0.00026
|
NM_001875.5(CPS1):c.1200A>G (p.Lys400=)
|
rs141545954
|
0.00024
|
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)
|
rs150314086
|
0.00021
|
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=)
|
rs150601728
|
0.00017
|
NM_001875.5(CPS1):c.3537C>T (p.Asp1179=)
|
rs199676680
|
0.00011
|
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr)
|
rs140999077
|
0.00009
|
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp)
|
rs367595060
|
0.00006
|
NM_001875.5(CPS1):c.1632G>A (p.Thr544=)
|
rs755530984
|
0.00005
|
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)
|
rs369061090
|
0.00005
|
NM_001875.5(CPS1):c.4404+5A>T
|
rs375785288
|
0.00004
|
NM_001875.5(CPS1):c.2644C>T (p.Arg882Cys)
|
rs148519116
|
0.00003
|
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys)
|
rs1392559810
|
0.00003
|
NM_001875.5(CPS1):c.158G>C (p.Gly53Ala)
|
rs140092912
|
0.00001
|
NM_001875.5(CPS1):c.1926del (p.Asp642fs)
|
rs1326644714
|
0.00001
|
NM_001875.5(CPS1):c.2205A>G (p.Ala735=)
|
rs749436827
|
0.00001
|
NM_001875.5(CPS1):c.2339G>A (p.Arg780His)
|
rs758724746
|
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.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
NM_001875.5(CPS1):c.726G>A (p.Val242=)
|
rs765377334
|
0.00001
|
NM_001875.5(CPS1):c.937A>G (p.Met313Val)
|
rs587780323
|
0.00001
|
NM_001122633.3(CPS1):c.-15-321C>A
|
rs73073545
|
|
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)
|
rs386654705
|
|
NM_001875.5(CPS1):c.-4_-3insTTC
|
rs61509952
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|
NM_001875.5(CPS1):c.1087-1G>T
|
rs1064794258
|
|
NM_001875.5(CPS1):c.1164+226G>T
|
rs73073575
|
|
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter)
|
rs961015305
|
|
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)
|
rs772497399
|
|
NM_001875.5(CPS1):c.1360-110G>A
|
rs6743156
|
|
NM_001875.5(CPS1):c.1592T>A (p.Val531Glu)
|
rs2105840363
|
|
NM_001875.5(CPS1):c.1913G>C (p.Arg638Pro)
|
rs757205958
|
|
NM_001875.5(CPS1):c.1981+1G>C
|
|
|
NM_001875.5(CPS1):c.2358C>T (p.Ser786=)
|
rs1699003909
|
|
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.2407C>A (p.Arg803Ser)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2959+8_2959+14del
|
rs765645129
|
|
NM_001875.5(CPS1):c.3125A>C (p.Asp1042Ala)
|
rs1574632659
|
|
NM_001875.5(CPS1):c.3133C>T (p.His1045Tyr)
|
rs1222081568
|
|
NM_001875.5(CPS1):c.3141+15del
|
rs577707531
|
|
NM_001875.5(CPS1):c.3250G>C (p.Asp1084His)
|
rs777363145
|
|
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)
|
rs761921978
|
|
NM_001875.5(CPS1):c.3325G>A (p.Val1109Ile)
|
rs1405959957
|
|
NM_001875.5(CPS1):c.3373C>A (p.Pro1125Thr)
|
|
|
NM_001875.5(CPS1):c.3405-97C>T
|
rs62203740
|
|
NM_001875.5(CPS1):c.3481-7G>A
|
rs368909569
|
|
NM_001875.5(CPS1):c.3559-7del
|
rs58225253
|
|
NM_001875.5(CPS1):c.3559-8_3559-7del
|
rs58225253
|
|
NM_001875.5(CPS1):c.3576C>G (p.Ile1192Met)
|
|
|
NM_001875.5(CPS1):c.3608C>T (p.Ser1203Leu)
|
rs149518280
|
|
NM_001875.5(CPS1):c.3666+76_3666+77dup
|
rs61108700
|
|
NM_001875.5(CPS1):c.3666+77dup
|
rs61108700
|
|
NM_001875.5(CPS1):c.3701T>A (p.Phe1234Tyr)
|
rs1700804080
|
|
NM_001875.5(CPS1):c.381+212C>T
|
rs13416489
|
|
NM_001875.5(CPS1):c.382-10_382-7del
|
rs1354079241
|
|
NM_001875.5(CPS1):c.382-134del
|
rs55986465
|
|
NM_001875.5(CPS1):c.382-134dup
|
rs55986465
|
|
NM_001875.5(CPS1):c.3927+149T>C
|
rs113202402
|
|
NM_001875.5(CPS1):c.3928-125dup
|
rs3214427
|
|
NM_001875.5(CPS1):c.3928-8del
|
rs397703682
|
|
NM_001875.5(CPS1):c.3928-9_3928-8del
|
rs397703682
|
|
NM_001875.5(CPS1):c.3952T>A (p.Leu1318Met)
|
rs769593170
|
|
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.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.4161+298A>T
|
rs62203749
|
|
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter)
|
rs200214298
|
|
NM_001875.5(CPS1):c.521G>A (p.Arg174Gln)
|
|
|
NM_001875.5(CPS1):c.528+40GT[11]
|
rs35833900
|
|
NM_001875.5(CPS1):c.622-182_622-181del
|
rs149496892
|
|
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
|
|
|