NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
|
rs148708735
|
0.00013
|
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp)
|
rs367595060
|
0.00006
|
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)
|
rs369061090
|
0.00005
|
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu)
|
rs201407486
|
0.00003
|
NM_001875.5(CPS1):c.2815C>T (p.Pro939Ser)
|
rs1047579926
|
0.00003
|
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg)
|
rs760895692
|
0.00002
|
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.1926del (p.Asp642fs)
|
rs1326644714
|
0.00001
|
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter)
|
rs1251623714
|
0.00001
|
NM_001875.5(CPS1):c.2339G>A (p.Arg780His)
|
rs758724746
|
0.00001
|
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter)
|
rs121912596
|
0.00001
|
NM_001875.5(CPS1):c.2549G>A (p.Arg850His)
|
rs767694281
|
0.00001
|
NM_001875.5(CPS1):c.2740G>C (p.Asp914His)
|
rs765484849
|
0.00001
|
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)
|
rs1318756445
|
0.00001
|
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn)
|
rs760714614
|
0.00001
|
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs)
|
rs1375304341
|
0.00001
|
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met)
|
rs1294236456
|
0.00001
|
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val)
|
rs766125631
|
0.00001
|
NM_001875.5(CPS1):c.3662A>G (p.Glu1221Gly)
|
rs1276176761
|
0.00001
|
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter)
|
rs1414143303
|
0.00001
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
NM_001875.5(CPS1):c.4274+2T>C
|
rs1374322297
|
0.00001
|
NM_001875.5(CPS1):c.4357C>T (p.Arg1453Trp)
|
rs933813349
|
0.00001
|
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu)
|
rs973321068
|
0.00001
|
NM_001875.5(CPS1):c.1087-1G>T
|
rs1064794258
|
|
NM_001875.5(CPS1):c.1110del (p.Phe371fs)
|
rs1698355880
|
|
NM_001875.5(CPS1):c.1123C>T (p.Gln375Ter)
|
|
|
NM_001875.5(CPS1):c.1169T>G (p.Leu390Arg)
|
rs2106116333
|
|
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)
|
rs772497399
|
|
NM_001875.5(CPS1):c.1344del (p.Ala448_Val449insTer)
|
|
|
NM_001875.5(CPS1):c.1370T>G (p.Val457Gly)
|
rs371350538
|
|
NM_001875.5(CPS1):c.1390_1397del (p.Pro464fs)
|
|
|
NM_001875.5(CPS1):c.1413dup (p.Asn472fs)
|
rs1553512225
|
|
NM_001875.5(CPS1):c.1424del (p.Gly475fs)
|
rs1375157321
|
|
NM_001875.5(CPS1):c.1432C>T (p.Gln478Ter)
|
rs2106126181
|
|
NM_001875.5(CPS1):c.1523T>C (p.Met508Thr)
|
|
|
NM_001875.5(CPS1):c.1529del (p.Gly510fs)
|
rs764384490
|
|
NM_001875.5(CPS1):c.1547del (p.Cys516fs)
|
|
|
NM_001875.5(CPS1):c.1549+1G>T
|
rs774484322
|
|
NM_001875.5(CPS1):c.1596del (p.Val533fs)
|
|
|
NM_001875.5(CPS1):c.1707+2T>G
|
|
|
NM_001875.5(CPS1):c.1796dup (p.Cys600fs)
|
|
|
NM_001875.5(CPS1):c.1812_1813del (p.Glu604fs)
|
|
|
NM_001875.5(CPS1):c.1941_1944del (p.Cys648fs)
|
|
|
NM_001875.5(CPS1):c.1962del (p.Asp654fs)
|
|
|
NM_001875.5(CPS1):c.214del (p.Val72fs)
|
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
NM_001875.5(CPS1):c.2162G>A (p.Arg721Gln)
|
|
|
NM_001875.5(CPS1):c.2170_2173delinsCCA (p.Ala724fs)
|
|
|
NM_001875.5(CPS1):c.2392-1G>A
|
|
|
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2420_2423dup (p.Ser808fs)
|
|
|
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)
|
rs772782772
|
|
NM_001875.5(CPS1):c.2568+1G>A
|
|
|
NM_001875.5(CPS1):c.2688-1G>A
|
|
|
NM_001875.5(CPS1):c.274C>T (p.Gln92Ter)
|
|
|
NM_001875.5(CPS1):c.2798del (p.Arg932_Leu933insTer)
|
rs1179151808
|
|
NM_001875.5(CPS1):c.2830-2A>G
|
|
|
NM_001875.5(CPS1):c.2876A>G (p.Tyr959Cys)
|
|
|
NM_001875.5(CPS1):c.2885_2889del (p.Tyr962fs)
|
|
|
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys)
|
rs1553516443
|
|
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)
|
rs1288123680
|
|
NM_001875.5(CPS1):c.3100G>T (p.Glu1034Ter)
|
|
|
NM_001875.5(CPS1):c.3136C>T (p.Gln1046Ter)
|
|
|
NM_001875.5(CPS1):c.3141+2T>C
|
rs2105901763
|
|
NM_001875.5(CPS1):c.3276_3288del (p.Phe1092fs)
|
|
|
NM_001875.5(CPS1):c.3317G>A (p.Trp1106Ter)
|
|
|
NM_001875.5(CPS1):c.3336+2T>A
|
|
|
NM_001875.5(CPS1):c.3337-1G>T
|
rs1700452978
|
|
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter)
|
rs2105908864
|
|
NM_001875.5(CPS1):c.3404+1G>A
|
|
|
NM_001875.5(CPS1):c.340G>T (p.Glu114Ter)
|
|
|
NM_001875.5(CPS1):c.3481-2A>G
|
|
|
NM_001875.5(CPS1):c.3500C>A (p.Thr1167Lys)
|
|
|
NM_001875.5(CPS1):c.3558+1G>C
|
rs1559129372
|
|
NM_001875.5(CPS1):c.3637C>T (p.Gln1213Ter)
|
rs774692248
|
|
NM_001875.5(CPS1):c.3666+1del
|
|
|
NM_001875.5(CPS1):c.3682del (p.Arg1228fs)
|
rs2105920599
|
|
NM_001875.5(CPS1):c.3775A>T (p.Arg1259Ter)
|
|
|
NM_001875.5(CPS1):c.3903del (p.Pro1302fs)
|
rs1264586092
|
|
NM_001875.5(CPS1):c.3949C>T (p.Arg1317Trp)
|
|
|
NM_001875.5(CPS1):c.4002+1G>T
|
|
|
NM_001875.5(CPS1):c.4088_4099del (p.Leu1363_Ile1366del)
|
rs766705843
|
|
NM_001875.5(CPS1):c.4101+2T>C
|
rs767575696
|
|
NM_001875.5(CPS1):c.4132G>A (p.Ala1378Thr)
|
|
|
NM_001875.5(CPS1):c.4191G>A (p.Trp1397Ter)
|
rs1172971002
|
|
NM_001875.5(CPS1):c.420C>A (p.Tyr140Ter)
|
rs772576138
|
|
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu)
|
rs1202306773
|
|
NM_001875.5(CPS1):c.4326del (p.Asn1442fs)
|
|
|
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter)
|
rs200214298
|
|
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp)
|
rs1553509661
|
|
NM_001875.5(CPS1):c.711+1G>A
|
|
|
NM_001875.5(CPS1):c.711+1G>T
|
|
|
NM_001875.5(CPS1):c.712-1G>T
|
|
|
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
|
|
|
NM_001875.5(CPS1):c.794C>T (p.Pro265Leu)
|
|
|
NM_001875.5(CPS1):c.79C>T (p.Gln27Ter)
|
|
|
NM_001875.5(CPS1):c.79del (p.Gln27fs)
|
|
|
NM_001875.5(CPS1):c.840+1G>T
|
rs1206168005
|
|
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn)
|
rs753751183
|
|
NM_001875.5(CPS1):c.86G>A (p.Trp29Ter)
|
|
|