NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys)
|
rs369061090
|
0.00005
|
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met)
|
rs121912592
|
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.2883_2895del (p.Tyr962fs)
|
rs1375304341
|
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.4357C>T (p.Arg1453Trp)
|
rs933813349
|
0.00001
|
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys)
|
rs767905306
|
0.00001
|
NC_000002.11:g.(?_211421433)_(211421593_?)del
|
|
|
NC_000002.11:g.(?_211421433)_(211473293_?)del
|
|
|
NC_000002.11:g.(?_211441050)_(211542729_?)del
|
|
|
NC_000002.11:g.(?_211456088)_(211479828_?)dup
|
|
|
NC_000002.11:g.(?_211469816)_(211477027_?)del
|
|
|
NC_000002.11:g.(?_211507198)_(211515172_?)del
|
|
|
NC_000002.11:g.(?_211512577)_(211513274_?)del
|
|
|
NC_000002.12:g.210577425_210577431del
|
rs2106081592
|
|
NG_008285.1:g.(115464_117421)_(119286_120194)del
|
|
|
NM_001875.5(CPS1):c.1003C>T (p.Gln335Ter)
|
rs1698314043
|
|
NM_001875.5(CPS1):c.1010A>G (p.His337Arg)
|
rs28940283
|
|
NM_001875.5(CPS1):c.1110del (p.Phe371fs)
|
rs1698355880
|
|
NM_001875.5(CPS1):c.1112del (p.Phe371fs)
|
rs2106113137
|
|
NM_001875.5(CPS1):c.1141_1149del (p.Thr381_Gly383del)
|
rs1698357897
|
|
NM_001875.5(CPS1):c.1164+2T>C
|
rs2106113312
|
|
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter)
|
rs961015305
|
|
NM_001875.5(CPS1):c.1197del (p.Gly401fs)
|
|
|
NM_001875.5(CPS1):c.1198_1201del (p.Lys400fs)
|
|
|
NM_001875.5(CPS1):c.1207del (p.Ala403fs)
|
rs1574566578
|
|
NM_001875.5(CPS1):c.1221_1222del (p.Val409fs)
|
|
|
NM_001875.5(CPS1):c.125del (p.Lys42fs)
|
|
|
NM_001875.5(CPS1):c.130C>T (p.Gln44Ter)
|
rs121912593
|
|
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter)
|
rs1553511789
|
|
NM_001875.5(CPS1):c.1329C>G (p.Tyr443Ter)
|
rs1574567901
|
|
NM_001875.5(CPS1):c.1370T>G (p.Val457Gly)
|
rs371350538
|
|
NM_001875.5(CPS1):c.1376del (p.Thr459fs)
|
|
|
NM_001875.5(CPS1):c.1424del (p.Gly475fs)
|
rs1375157321
|
|
NM_001875.5(CPS1):c.1432C>T (p.Gln478Ter)
|
rs2106126181
|
|
NM_001875.5(CPS1):c.1468C>T (p.Gln490Ter)
|
rs777614848
|
|
NM_001875.5(CPS1):c.1509del (p.Gly503_Leu504insTer)
|
rs2106126478
|
|
NM_001875.5(CPS1):c.1529del (p.Gly510fs)
|
rs764384490
|
|
NM_001875.5(CPS1):c.1549+1G>T
|
rs774484322
|
|
NM_001875.5(CPS1):c.1596del (p.Val533fs)
|
|
|
NM_001875.5(CPS1):c.1760G>A (p.Arg587His)
|
rs1553512642
|
|
NM_001875.5(CPS1):c.1770T>G (p.Tyr590Ter)
|
rs1245368879
|
|
NM_001875.5(CPS1):c.1775dup (p.Gly594fs)
|
rs1341782266
|
|
NM_001875.5(CPS1):c.1891G>T (p.Glu631Ter)
|
|
|
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)
|
rs759201450
|
|
NM_001875.5(CPS1):c.1930del (p.Cys644fs)
|
|
|
NM_001875.5(CPS1):c.1941_1944del (p.Cys648fs)
|
|
|
NM_001875.5(CPS1):c.1944dup (p.Asn649Ter)
|
|
|
NM_001875.5(CPS1):c.1970del (p.Gly657fs)
|
|
|
NM_001875.5(CPS1):c.2051C>G (p.Ser684Ter)
|
rs1698929326
|
|
NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter)
|
rs1337182136
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
NM_001875.5(CPS1):c.2171_2175del (p.Ala724fs)
|
rs2105850258
|
|
NM_001875.5(CPS1):c.2375del (p.Met792fs)
|
rs1699004800
|
|
NM_001875.5(CPS1):c.2403dup (p.Gly802fs)
|
rs2105858978
|
|
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2408dup (p.Thr804fs)
|
rs2105859007
|
|
NM_001875.5(CPS1):c.2429A>G (p.Gln810Arg)
|
rs1553513864
|
|
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp)
|
rs772782772
|
|
NM_001875.5(CPS1):c.2446del (p.Cys816fs)
|
rs2105859077
|
|
NM_001875.5(CPS1):c.2470_2482del (p.Thr824fs)
|
rs2105859138
|
|
NM_001875.5(CPS1):c.2477del (p.Arg826fs)
|
|
|
NM_001875.5(CPS1):c.2493del (p.Glu832fs)
|
|
|
NM_001875.5(CPS1):c.2498G>A (p.Trp833Ter)
|
|
|
NM_001875.5(CPS1):c.2499G>A (p.Trp833Ter)
|
|
|
NM_001875.5(CPS1):c.2525del (p.Glu842fs)
|
|
|
NM_001875.5(CPS1):c.2548C>G (p.Arg850Gly)
|
rs1015051007
|
|
NM_001875.5(CPS1):c.2596G>T (p.Glu866Ter)
|
rs1233577562
|
|
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter)
|
rs1553507167
|
|
NM_001875.5(CPS1):c.2634del (p.Leu878fs)
|
rs1699310540
|
|
NM_001875.5(CPS1):c.2720del (p.Ala907fs)
|
|
|
NM_001875.5(CPS1):c.2747del (p.Gln916fs)
|
|
|
NM_001875.5(CPS1):c.2798del (p.Arg932_Leu933insTer)
|
rs1179151808
|
|
NM_001875.5(CPS1):c.2819G>A (p.Trp940Ter)
|
rs1446095060
|
|
NM_001875.5(CPS1):c.2820G>A (p.Trp940Ter)
|
|
|
NM_001875.5(CPS1):c.2876_2877del (p.Tyr959fs)
|
rs1296603906
|
|
NM_001875.5(CPS1):c.2920del (p.His974fs)
|
|
|
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp)
|
rs121912595
|
|
NM_001875.5(CPS1):c.3031GTG[2] (p.Val1013del)
|
rs727502824
|
|
NM_001875.5(CPS1):c.3067dup (p.Asp1023fs)
|
|
|
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)
|
rs1288123680
|
|
NM_001875.5(CPS1):c.3132C>G (p.Tyr1044Ter)
|
|
|
NM_001875.5(CPS1):c.3136C>T (p.Gln1046Ter)
|
|
|
NM_001875.5(CPS1):c.3216del (p.Val1073fs)
|
rs2105907969
|
|
NM_001875.5(CPS1):c.3241del (p.Leu1081fs)
|
|
|
NM_001875.5(CPS1):c.3266G>T (p.Arg1089Leu)
|
rs1280211937
|
|
NM_001875.5(CPS1):c.3276_3288del (p.Phe1092fs)
|
|
|
NM_001875.5(CPS1):c.3304dup (p.Ala1102fs)
|
|
|
NM_001875.5(CPS1):c.3307C>T (p.Gln1103Ter)
|
rs1327048960
|
|
NM_001875.5(CPS1):c.3336+2T>A
|
|
|
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs)
|
rs1700454068
|
|
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter)
|
rs2105908864
|
|
NM_001875.5(CPS1):c.3399_3402del (p.Leu1134fs)
|
|
|
NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter)
|
rs1700523651
|
|
NM_001875.5(CPS1):c.345_351del (p.Gly116fs)
|
rs2106079710
|
|
NM_001875.5(CPS1):c.3478C>T (p.Gln1160Ter)
|
|
|
NM_001875.5(CPS1):c.3486_3496del (p.Pro1163fs)
|
rs1700635072
|
|
NM_001875.5(CPS1):c.3506TTG[1] (p.Val1170del)
|
|
|
NM_001875.5(CPS1):c.3520C>T (p.Arg1174Ter)
|
rs756337473
|
|
NM_001875.5(CPS1):c.3558+1G>C
|
rs1559129372
|
|
NM_001875.5(CPS1):c.3666+1G>T
|
rs761271604
|
|
NM_001875.5(CPS1):c.3682del (p.Arg1228fs)
|
rs2105920599
|
|
NM_001875.5(CPS1):c.3695del (p.Lys1232fs)
|
|
|
NM_001875.5(CPS1):c.3763G>T (p.Glu1255Ter)
|
rs2105922857
|
|
NM_001875.5(CPS1):c.3869del (p.Glu1290fs)
|
|
|
NM_001875.5(CPS1):c.3903del (p.Pro1302fs)
|
rs1264586092
|
|
NM_001875.5(CPS1):c.3910_3913del (p.Asp1304fs)
|
|
|
NM_001875.5(CPS1):c.3915T>A (p.Tyr1305Ter)
|
rs1700887978
|
|
NM_001875.5(CPS1):c.3935dup (p.Met1312fs)
|
rs2105926082
|
|
NM_001875.5(CPS1):c.3953T>A (p.Leu1318Ter)
|
rs1700979727
|
|
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr)
|
rs1553518389
|
|
NM_001875.5(CPS1):c.4075C>T (p.Gln1359Ter)
|
rs1701171267
|
|
NM_001875.5(CPS1):c.4088dup (p.Ile1364fs)
|
|
|
NM_001875.5(CPS1):c.4101+1G>T
|
|
|
NM_001875.5(CPS1):c.4101+2T>C
|
rs767575696
|
|
NM_001875.5(CPS1):c.4140_4143dup (p.His1382fs)
|
|
|
NM_001875.5(CPS1):c.4159A>T (p.Lys1387Ter)
|
rs2105942900
|
|
NM_001875.5(CPS1):c.4190G>A (p.Trp1397Ter)
|
|
|
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.4246C>T (p.Gln1416Ter)
|
|
|
NM_001875.5(CPS1):c.4275-2A>C
|
rs2105945930
|
|
NM_001875.5(CPS1):c.4404+3A>G
|
|
|
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter)
|
rs200214298
|
|
NM_001875.5(CPS1):c.594_595del (p.Asn199fs)
|
rs1553509924
|
|
NM_001875.5(CPS1):c.651del (p.Thr218fs)
|
|
|
NM_001875.5(CPS1):c.681del (p.Asn229fs)
|
|
|
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)
|
rs761225695
|
|
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer)
|
rs778346264
|
|
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn)
|
rs753751183
|
|
NM_001875.5(CPS1):c.866del (p.Pro289fs)
|
|
|
NM_001875.5(CPS1):c.869dup (p.Leu290fs)
|
|
|
NM_001875.5(CPS1):c.927C>G (p.Tyr309Ter)
|
|
|
NM_001875.5(CPS1):c.946A>T (p.Arg316Ter)
|
|
|
NM_001875.5(CPS1):c.952C>T (p.Gln318Ter)
|
|
|
NM_001875.5(CPS1):c.958C>T (p.Gln320Ter)
|
|
|
NM_001875.5(CPS1):c.982A>T (p.Lys328Ter)
|
|
|