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.*438T>G
|
rs7684
|
0.36145
|
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)
|
rs1047891
|
0.33052
|
NM_001875.5(CPS1):c.*346T>C
|
rs715
|
0.27930
|
NM_001875.5(CPS1):c.*692C>G
|
rs12476133
|
0.24256
|
NM_001875.5(CPS1):c.2193-15G>T
|
rs2287600
|
0.09707
|
NM_001875.5(CPS1):c.*380C>G
|
rs10932349
|
0.07637
|
NM_001875.5(CPS1):c.4275-10A>G
|
rs41272673
|
0.03250
|
NM_001875.5(CPS1):c.*829T>C
|
rs79296773
|
0.02814
|
NM_001875.5(CPS1):c.*754T>G
|
rs73078125
|
0.01899
|
NM_001875.5(CPS1):c.2448C>T (p.Cys816=)
|
rs75395645
|
0.01788
|
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.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.*314T>A
|
rs115293884
|
0.00624
|
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.3687G>T (p.Lys1229Asn)
|
rs115897023
|
0.00412
|
NM_001875.5(CPS1):c.4404+4T>A
|
rs199739254
|
0.00020
|
NM_001875.5(CPS1):c.*658A>G
|
rs559191307
|
0.00005
|
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.2265C>A (p.Ser755=)
|
rs41272667
|
|
NM_001875.5(CPS1):c.3481-7G>A
|
rs368909569
|
|