NM_001875.5(CPS1):c.2679C>G (p.Gly893=)
|
rs2287599
|
0.64925
|
NM_001875.5(CPS1):c.1032C>T (p.Thr344=)
|
rs2229589
|
0.59558
|
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)
|
rs1047891
|
0.33052
|
NM_001875.5(CPS1):c.2193-15G>T
|
rs2287600
|
0.09707
|
NM_001875.5(CPS1):c.4275-10A>G
|
rs41272673
|
0.03250
|
NM_001875.5(CPS1):c.2830-18A>G
|
rs116664530
|
0.02055
|
NM_001875.5(CPS1):c.2448C>T (p.Cys816=)
|
rs75395645
|
0.01788
|
NM_001875.5(CPS1):c.2391+18T>G
|
rs59741271
|
0.01764
|
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr)
|
rs76340296
|
0.01465
|
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.1359+7G>A
|
rs16844647
|
0.00860
|
NM_001875.5(CPS1):c.2394C>A (p.Val798=)
|
rs35678745
|
0.00828
|
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=)
|
rs138395129
|
0.00621
|
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met)
|
rs79627159
|
0.00546
|
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.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.783C>T (p.Ile261=)
|
rs142468138
|
0.00174
|
NM_001875.5(CPS1):c.3928-15T>C
|
rs552764351
|
0.00173
|
NM_001875.5(CPS1):c.1437G>A (p.Ala479=)
|
rs80261173
|
0.00114
|
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.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.1021T>G (p.Leu341Val)
|
rs138424013
|
0.00049
|
NM_001875.5(CPS1):c.1116C>T (p.Phe372=)
|
rs200465544
|
0.00029
|
NM_001875.5(CPS1):c.2421G>A (p.Glu807=)
|
rs140726293
|
0.00025
|
NM_001875.5(CPS1):c.1200A>G (p.Lys400=)
|
rs141545954
|
0.00024
|
NM_001875.5(CPS1):c.3927+16A>G
|
rs188145947
|
0.00021
|
NM_001875.5(CPS1):c.4404+4T>A
|
rs199739254
|
0.00020
|
NM_001875.5(CPS1):c.2352A>G (p.Thr784=)
|
rs182565798
|
0.00014
|
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser)
|
rs201246466
|
0.00013
|
NM_001875.5(CPS1):c.3537C>T (p.Asp1179=)
|
rs199676680
|
0.00011
|
NM_001875.5(CPS1):c.186C>T (p.Gly62=)
|
rs529836556
|
0.00010
|
NM_001875.5(CPS1):c.732A>G (p.Leu244=)
|
rs565797284
|
0.00008
|
NM_001875.5(CPS1):c.1165-5T>C
|
rs565003226
|
0.00004
|
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu)
|
rs147062907
|
0.00002
|
NM_001875.5(CPS1):c.1708-5G>A
|
rs571670790
|
0.00001
|
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.1031C>T (p.Thr344Ile)
|
|
|
NM_001875.5(CPS1):c.1036C>T (p.Pro346Ser)
|
|
|
NM_001875.5(CPS1):c.1164+12del
|
|
|
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.2688-12A>T
|
rs376699772
|
|
NM_001875.5(CPS1):c.2959+6del
|
|
|
NM_001875.5(CPS1):c.3141+15del
|
rs577707531
|
|
NM_001875.5(CPS1):c.3141+26del
|
|
|
NM_001875.5(CPS1):c.3141+26dup
|
|
|
NM_001875.5(CPS1):c.3404+9_3404+10del
|
rs557000347
|
|
NM_001875.5(CPS1):c.3405-13dup
|
|
|
NM_001875.5(CPS1):c.3481-7G>A
|
rs368909569
|
|
NM_001875.5(CPS1):c.3928-8del
|
rs397703682
|
|
NM_001875.5(CPS1):c.3928-9_3928-8del
|
rs397703682
|
|
NM_001875.5(CPS1):c.4275-5del
|
|
|
NM_001875.5(CPS1):c.472-8dup
|
rs761912505
|
|
NM_001875.5(CPS1):c.529-11dup
|
|
|
NM_001875.5(CPS1):c.621+8del
|
rs1574551647
|
|
NM_001875.5(CPS1):c.948-9del
|
|
|