NM_001875.5(CPS1):c.3337-79C>T
|
rs4673540
|
0.99994
|
NM_001875.5(CPS1):c.4101+62A>G
|
rs10932347
|
0.94313
|
NM_001875.5(CPS1):c.4102-263A>G
|
rs4325692
|
0.89547
|
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
|
0.48460
|
NM_001122633.3(CPS1):c.-16+12G>A
|
rs17552879
|
0.43006
|
NM_001875.5(CPS1):c.3405-29A>T
|
rs3213784
|
0.38451
|
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
|
0.29957
|
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
|
0.26051
|
NM_001875.5(CPS1):c.3756+45C>T
|
rs6435580
|
0.24723
|
NM_001875.5(CPS1):c.*692C>G
|
rs12476133
|
0.24427
|
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+126G>A
|
rs13409110
|
0.22733
|
NM_001875.5(CPS1):c.2895+135C>T
|
rs13408918
|
0.22678
|
NM_001875.5(CPS1):c.4102-324C>T
|
rs4567871
|
0.22217
|
NM_001875.5(CPS1):c.1981+226T>C
|
rs17774535
|
0.15924
|
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
|
0.10248
|
NM_001875.5(CPS1):c.3142-150G>A
|
rs3213785
|
0.08202
|
NM_001875.5(CPS1):c.3666+322G>C
|
rs71350740
|
0.08010
|
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
|
0.06355
|
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.2896-256A>G
|
rs17775057
|
0.03259
|
NM_001875.5(CPS1):c.4275-10A>G
|
rs41272673
|
0.03250
|
NM_001875.5(CPS1):c.471+72C>T
|
rs78365831
|
0.03124
|
NM_001875.5(CPS1):c.2193-200G>A
|
rs73984647
|
0.02999
|
NM_001875.5(CPS1):c.3927+41A>G
|
rs41272671
|
0.02989
|
NM_001875.5(CPS1):c.2568+201A>G
|
rs73073595
|
0.02524
|
NM_001875.5(CPS1):c.1708-98C>G
|
rs112393887
|
0.02281
|
NM_001875.5(CPS1):c.3142-119G>C
|
rs73076044
|
0.02280
|
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.1360-297C>A
|
rs6742717
|
0.02256
|
NM_001875.5(CPS1):c.1360-230G>A
|
rs6743023
|
0.02144
|
NM_001875.5(CPS1):c.237-91C>T
|
rs116031642
|
0.02136
|
NM_001875.5(CPS1):c.126+124G>A
|
rs60586565
|
0.02082
|
NM_001875.5(CPS1):c.2830-18A>G
|
rs116664530
|
0.02004
|
NM_001875.5(CPS1):c.4405-132A>T
|
rs77615405
|
0.01875
|
NM_001875.5(CPS1):c.*754T>G
|
rs73078125
|
0.01852
|
NM_001875.5(CPS1):c.1549+264A>G
|
rs112724994
|
0.01825
|
NM_001875.5(CPS1):c.2448C>T (p.Cys816=)
|
rs75395645
|
0.01759
|
NM_001875.5(CPS1):c.127-93T>A
|
rs115329306
|
0.01749
|
NM_001875.5(CPS1):c.1981+207G>A
|
rs115202245
|
0.01745
|
NM_001875.5(CPS1):c.1164+99A>G
|
rs113899268
|
0.01715
|
NM_001875.5(CPS1):c.3927+205C>T
|
rs115644180
|
0.01651
|
NM_001875.5(CPS1):c.127-98G>T
|
rs114783002
|
0.01605
|
NM_001875.5(CPS1):c.3558+206A>C
|
rs148794069
|
0.01410
|
NM_001875.4(CPS1):c.-78986G>A
|
rs111491997
|
0.01336
|
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser)
|
rs140578009
|
0.01275
|
NM_001875.5(CPS1):c.1068C>G (p.Val356=)
|
rs34022862
|
0.01185
|
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.449G>A (p.Gly150Glu)
|
rs114819130
|
0.00616
|
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=)
|
rs138395129
|
0.00581
|
NM_001875.5(CPS1):c.712-16T>C
|
rs187304632
|
0.00420
|
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn)
|
rs115897023
|
0.00379
|
NM_001875.5(CPS1):c.*658A>G
|
rs559191307
|
0.00077
|
NM_001875.5(CPS1):c.4404+4T>A
|
rs199739254
|
0.00020
|
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.1030A>T (p.Thr344Ser)
|
rs1047883
|
|
NM_001875.5(CPS1):c.1164+226G>T
|
rs73073575
|
|
NM_001875.5(CPS1):c.1360-110G>A
|
rs6743156
|
|
NM_001875.5(CPS1):c.2265C>A (p.Ser755=)
|
rs41272667
|
|
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.2688-12A>T
|
rs376699772
|
|
NM_001875.5(CPS1):c.3141+15del
|
rs577707531
|
|
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.3666+76_3666+77dup
|
rs61108700
|
|
NM_001875.5(CPS1):c.3666+77dup
|
rs61108700
|
|
NM_001875.5(CPS1):c.381+212C>T
|
rs13416489
|
|
NM_001875.5(CPS1):c.382-134dup
|
rs55986465
|
|
NM_001875.5(CPS1):c.3928-125dup
|
rs3214427
|
|
NM_001875.5(CPS1):c.3928-8del
|
rs397703682
|
|
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.4102-342G>A
|
rs77039478
|
|
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.622-182_622-181del
|
rs149496892
|
|