NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)
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rs114819130
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0.00617
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NM_001875.5(CPS1):c.2192+6A>T
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rs201058019
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0.00081
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NM_001875.5(CPS1):c.713G>A (p.Arg238Gln)
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rs147294932
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0.00060
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NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)
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rs138424013
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0.00049
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NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)
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rs141481633
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0.00043
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NM_001875.5(CPS1):c.5C>T (p.Thr2Met)
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rs150314086
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0.00021
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NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
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rs148708735
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0.00013
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NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
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rs778958318
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0.00007
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NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)
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rs199878637
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0.00006
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NM_001875.5(CPS1):c.2458A>G (p.Ile820Val)
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rs554763314
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0.00003
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NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)
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rs555151297
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0.00003
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NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg)
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rs760895692
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0.00002
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NM_001875.5(CPS1):c.1365A>C (p.Glu455Asp)
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rs1248150090
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0.00002
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NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala)
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rs755035266
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0.00002
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NM_001875.5(CPS1):c.2257G>A (p.Val753Ile)
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rs1272423772
|
0.00002
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NM_001875.5(CPS1):c.1400C>T (p.Ala467Val)
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rs746395584
|
0.00001
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NM_001875.5(CPS1):c.2308G>A (p.Val770Ile)
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rs1237628982
|
0.00001
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NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn)
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rs760714614
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0.00001
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NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)
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rs121912595
|
0.00001
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NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln)
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rs553145464
|
0.00001
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NM_001875.5(CPS1):c.1312G>T (p.Ala438Ser)
|
|
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NM_001875.5(CPS1):c.1368T>G (p.Asn456Lys)
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NM_001875.5(CPS1):c.1520G>T (p.Gly507Val)
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NM_001875.5(CPS1):c.1930del (p.Cys644fs)
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NM_001875.5(CPS1):c.2045G>A (p.Arg682His)
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NM_001875.5(CPS1):c.2242C>G (p.Pro748Ala)
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NM_001875.5(CPS1):c.2401A>G (p.Ile801Val)
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NM_001875.5(CPS1):c.2654T>C (p.Leu885Ser)
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NM_001875.5(CPS1):c.2678G>T (p.Gly893Val)
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NM_001875.5(CPS1):c.2756A>C (p.Lys919Thr)
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NM_001875.5(CPS1):c.2829+6G>A
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NM_001875.5(CPS1):c.283A>T (p.Thr95Ser)
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NM_001875.5(CPS1):c.3001C>T (p.Arg1001Cys)
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NM_001875.5(CPS1):c.3010C>T (p.Arg1004Cys)
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NM_001875.5(CPS1):c.3412G>C (p.Ala1138Pro)
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NM_001875.5(CPS1):c.3451T>C (p.Phe1151Leu)
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NM_001875.5(CPS1):c.3565T>A (p.Ser1189Thr)
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NM_001875.5(CPS1):c.3622C>G (p.Leu1208Val)
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NM_001875.5(CPS1):c.3851T>C (p.Ile1284Thr)
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|
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NM_001875.5(CPS1):c.3875A>G (p.His1292Arg)
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NM_001875.5(CPS1):c.3928G>T (p.Ala1310Ser)
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NM_001875.5(CPS1):c.4028_4030del (p.His1343_Thr1344delinsPro)
|
rs1701168525
|
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NM_001875.5(CPS1):c.4081G>T (p.Gly1361Cys)
|
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NM_001875.5(CPS1):c.4082G>A (p.Gly1361Asp)
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NM_001875.5(CPS1):c.4111C>T (p.Arg1371Trp)
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NM_001875.5(CPS1):c.4414C>T (p.Leu1472Phe)
|
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NM_001875.5(CPS1):c.442A>G (p.Ser148Gly)
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NM_001875.5(CPS1):c.4483A>G (p.Ser1495Gly)
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NM_001875.5(CPS1):c.568G>A (p.Val190Met)
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NM_001875.5(CPS1):c.674G>C (p.Cys225Ser)
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NM_001875.5(CPS1):c.70A>G (p.Thr24Ala)
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NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
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NM_001875.5(CPS1):c.754A>G (p.Thr252Ala)
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NM_001875.5(CPS1):c.828G>T (p.Gln276His)
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NM_001875.5(CPS1):c.904T>A (p.Leu302Met)
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NM_001875.5(CPS1):c.972T>G (p.Asn324Lys)
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