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_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.4217C>A (p.Thr1406Asn)
|
rs1047891
|
0.33052
|
NM_001875.5(CPS1):c.3756+45C>T
|
rs6435580
|
0.24723
|
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_001122633.3(CPS1):c.-34G>A
|
rs111491997
|
0.01369
|
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.-29T>G
|
rs147937942
|
0.00830
|
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.486T>C (p.Tyr162=)
|
rs138779023
|
0.00295
|
NM_001875.5(CPS1):c.4404+4T>A
|
rs199739254
|
0.00020
|
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.1030_1032delinsTCT (p.Thr344Ser)
|
rs386654705
|
|
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.3481-7G>A
|
rs368909569
|
|
NM_001875.5(CPS1):c.3559-7del
|
rs58225253
|
|
NM_001875.5(CPS1):c.3928-8del
|
rs397703682
|
|
NM_001875.5(CPS1):c.3928-9_3928-8del
|
rs397703682
|
|