NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)
|
rs201407486
|
0.00003
|
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys)
|
rs1392559810
|
0.00003
|
NM_001875.5(CPS1):c.1263+5G>C
|
rs1275489342
|
0.00001
|
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met)
|
rs121912592
|
0.00001
|
NM_001875.5(CPS1):c.1837-8A>G
|
rs1290474919
|
0.00001
|
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)
|
rs121912595
|
0.00001
|
NM_001875.5(CPS1):c.3607T>C (p.Ser1203Pro)
|
rs1319489001
|
0.00001
|
NM_001875.5(CPS1):c.4274+2T>C
|
rs1374322297
|
0.00001
|
NC_000002.11:g.(?_211454820)_(211455640_?)dup
|
|
|
NM_001875.5(CPS1):c.1086+1G>A
|
rs1553511326
|
|
NM_001875.5(CPS1):c.1164+1G>A
|
|
|
NM_001875.5(CPS1):c.1165-2A>G
|
rs1305369403
|
|
NM_001875.5(CPS1):c.1264-1G>T
|
|
|
NM_001875.5(CPS1):c.127-2A>G
|
|
|
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp)
|
rs1553511785
|
|
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)
|
rs772497399
|
|
NM_001875.5(CPS1):c.1360-1G>C
|
|
|
NM_001875.5(CPS1):c.1549+1G>A
|
|
|
NM_001875.5(CPS1):c.1759C>T (p.Arg587Cys)
|
|
|
NM_001875.5(CPS1):c.1836+2T>C
|
rs1574577755
|
|
NM_001875.5(CPS1):c.1981+1G>C
|
|
|
NM_001875.5(CPS1):c.2375T>C (p.Met792Thr)
|
|
|
NM_001875.5(CPS1):c.2376G>C (p.Met792Ile)
|
rs1553513429
|
|
NM_001875.5(CPS1):c.2391+1G>T
|
rs1553513433
|
|
NM_001875.5(CPS1):c.2548C>T (p.Arg850Cys)
|
|
|
NM_001875.5(CPS1):c.2568+1G>A
|
|
|
NM_001875.5(CPS1):c.2830-1G>C
|
|
|
NM_001875.5(CPS1):c.2830-1G>T
|
rs1700129715
|
|
NM_001875.5(CPS1):c.2895+1G>A
|
|
|
NM_001875.5(CPS1):c.3141+2T>C
|
rs2105901763
|
|
NM_001875.5(CPS1):c.3266G>A (p.Arg1089His)
|
|
|
NM_001875.5(CPS1):c.3266G>C (p.Arg1089Pro)
|
|
|
NM_001875.5(CPS1):c.3336+1G>A
|
rs1700437565
|
|
NM_001875.5(CPS1):c.3337-1G>T
|
rs1700452978
|
|
NM_001875.5(CPS1):c.3405-2A>G
|
rs2105910926
|
|
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys)
|
rs146968493
|
|
NM_001875.5(CPS1):c.3559-2A>G
|
rs766584384
|
|
NM_001875.5(CPS1):c.3559G>T (p.Val1187Phe)
|
|
|
NM_001875.5(CPS1):c.3666+2del
|
|
|
NM_001875.5(CPS1):c.3683_3756+772del
|
|
|
NM_001875.5(CPS1):c.3757-1G>A
|
rs2105922845
|
|
NM_001875.5(CPS1):c.381+2T>C
|
rs1574543988
|
|
NM_001875.5(CPS1):c.4002+2T>A
|
rs1553518395
|
|
NM_001875.5(CPS1):c.4003-2A>C
|
|
|
NM_001875.5(CPS1):c.4088_4099del (p.Leu1363_Ile1366del)
|
rs766705843
|
|
NM_001875.5(CPS1):c.4161+1G>A
|
|
|
NM_001875.5(CPS1):c.4358G>A (p.Arg1453Gln)
|
rs1559142152
|
|
NM_001875.5(CPS1):c.528+2T>C
|
rs1574548003
|
|
NM_001875.5(CPS1):c.622-2A>G
|
rs2106103778
|
|
NM_001875.5(CPS1):c.840+1G>T
|
rs1206168005
|
|
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn)
|
rs753751183
|
|