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.1926del (p.Asp642fs)
|
rs1326644714
|
0.00001
|
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter)
|
rs1251623714
|
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.2945G>T (p.Gly982Val)
|
rs121912595
|
0.00001
|
NM_001875.5(CPS1):c.3607T>C (p.Ser1203Pro)
|
rs1319489001
|
0.00001
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
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
|
NC_000002.11:g.(211507390_211512586)_211513223del
|
|
|
NC_000002.11:g.(?_211454820)_(211455640_?)dup
|
|
|
NC_000002.11:g.211436160_211541748del105589
|
|
|
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.1187C>A (p.Ser396Ter)
|
rs961015305
|
|
NM_001875.5(CPS1):c.126+1G>A
|
rs1553507183
|
|
NM_001875.5(CPS1):c.1264-1G>T
|
|
|
NM_001875.5(CPS1):c.127-2A>G
|
|
|
NM_001875.5(CPS1):c.1291G>A (p.Gly431Arg)
|
rs778766382
|
|
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.1323dup (p.Asp442Ter)
|
rs1553511789
|
|
NM_001875.5(CPS1):c.1360-1G>C
|
|
|
NM_001875.5(CPS1):c.1363G>T (p.Glu455Ter)
|
rs1698622742
|
|
NM_001875.5(CPS1):c.1412C>A (p.Thr471Asn)
|
|
|
NM_001875.5(CPS1):c.1413dup (p.Asn472fs)
|
rs1553512225
|
|
NM_001875.5(CPS1):c.1453del (p.Leu485fs)
|
|
|
NM_001875.5(CPS1):c.1489A>T (p.Lys497Ter)
|
rs1698631663
|
|
NM_001875.5(CPS1):c.149T>C (p.Leu50Pro)
|
|
|
NM_001875.5(CPS1):c.1549+1G>A
|
|
|
NM_001875.5(CPS1):c.1550-2A>C
|
rs2105840261
|
|
NM_001875.5(CPS1):c.1553_1555delinsA (p.Val518fs)
|
|
|
NM_001875.5(CPS1):c.1569_1570del (p.Gly524fs)
|
|
|
NM_001875.5(CPS1):c.1610C>A (p.Ser537Ter)
|
rs1698686495
|
|
NM_001875.5(CPS1):c.1751_1752del (p.Val584fs)
|
|
|
NM_001875.5(CPS1):c.1759C>T (p.Arg587Cys)
|
|
|
NM_001875.5(CPS1):c.1760G>A (p.Arg587His)
|
rs1553512642
|
|
NM_001875.5(CPS1):c.1770T>A (p.Tyr590Ter)
|
|
|
NM_001875.5(CPS1):c.1775dup (p.Gly594fs)
|
rs1341782266
|
|
NM_001875.5(CPS1):c.1781_1782del (p.Gly594fs)
|
|
|
NM_001875.5(CPS1):c.1790C>A (p.Ser597Ter)
|
rs1698754274
|
|
NM_001875.5(CPS1):c.1826_1827del (p.Leu609fs)
|
|
|
NM_001875.5(CPS1):c.1836+2T>C
|
rs1574577755
|
|
NM_001875.5(CPS1):c.1855C>T (p.Gln619Ter)
|
|
|
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)
|
rs759201450
|
|
NM_001875.5(CPS1):c.1981+1G>C
|
|
|
NM_001875.5(CPS1):c.2017_2018del (p.Ser673fs)
|
|
|
NM_001875.5(CPS1):c.2072T>A (p.Leu691Ter)
|
rs1698930454
|
|
NM_001875.5(CPS1):c.209_216dup (p.Phe73fs)
|
rs1553509010
|
|
NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter)
|
rs1337182136
|
|
NM_001875.5(CPS1):c.2144_2145del (p.Val715fs)
|
|
|
NM_001875.5(CPS1):c.2152A>T (p.Arg718Ter)
|
rs1698933356
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
NM_001875.5(CPS1):c.2193-1G>A
|
|
|
NM_001875.5(CPS1):c.2193-1G>T
|
rs1553513387
|
|
NM_001875.5(CPS1):c.2201T>A (p.Leu734Ter)
|
rs1574586310
|
|
NM_001875.5(CPS1):c.2227del (p.Ala742_Leu743insTer)
|
rs781088670
|
|
NM_001875.5(CPS1):c.2283_2287delinsA (p.Cys761_Glu763delinsTer)
|
rs1699000892
|
|
NM_001875.5(CPS1):c.236+1G>T
|
rs1553509023
|
|
NM_001875.5(CPS1):c.236+4A>G
|
|
|
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>A
|
rs1553513433
|
|
NM_001875.5(CPS1):c.2391+1G>T
|
rs1553513433
|
|
NM_001875.5(CPS1):c.2391+2T>C
|
|
|
NM_001875.5(CPS1):c.2392-1G>T
|
rs755882799
|
|
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2419G>T (p.Glu807Ter)
|
rs1699148940
|
|
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.2470_2471del (p.Thr824fs)
|
|
|
NM_001875.5(CPS1):c.2533_2534del (p.Glu845fs)
|
|
|
NM_001875.5(CPS1):c.2548C>T (p.Arg850Cys)
|
|
|
NM_001875.5(CPS1):c.2556T>A (p.Tyr852Ter)
|
rs1699157096
|
|
NM_001875.5(CPS1):c.2568+1G>A
|
|
|
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter)
|
rs1553507167
|
|
NM_001875.5(CPS1):c.2605_2606insGAAG (p.Lys869fs)
|
|
|
NM_001875.5(CPS1):c.2616C>A (p.Tyr872Ter)
|
rs1699309581
|
|
NM_001875.5(CPS1):c.2623A>T (p.Lys875Ter)
|
|
|
NM_001875.5(CPS1):c.2633T>A (p.Leu878Ter)
|
rs1699310308
|
|
NM_001875.5(CPS1):c.2713A>T (p.Lys905Ter)
|
|
|
NM_001875.5(CPS1):c.2725G>T (p.Glu909Ter)
|
|
|
NM_001875.5(CPS1):c.2738C>A (p.Ser913Ter)
|
rs754706559
|
|
NM_001875.5(CPS1):c.2755A>T (p.Lys919Ter)
|
|
|
NM_001875.5(CPS1):c.2773G>T (p.Glu925Ter)
|
rs1700084097
|
|
NM_001875.5(CPS1):c.2779C>T (p.Gln927Ter)
|
|
|
NM_001875.5(CPS1):c.2830-1G>C
|
|
|
NM_001875.5(CPS1):c.2830-1G>T
|
rs1700129715
|
|
NM_001875.5(CPS1):c.2853C>A (p.Tyr951Ter)
|
rs1028099185
|
|
NM_001875.5(CPS1):c.2877T>G (p.Tyr959Ter)
|
|
|
NM_001875.5(CPS1):c.2895+1G>A
|
|
|
NM_001875.5(CPS1):c.2895+2T>C
|
|
|
NM_001875.5(CPS1):c.2913del (p.Phe971fs)
|
|
|
NM_001875.5(CPS1):c.2943T>A (p.Cys981Ter)
|
|
|
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp)
|
rs121912595
|
|
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys)
|
rs1553516443
|
|
NM_001875.5(CPS1):c.2985T>A (p.Cys995Ter)
|
rs1700257346
|
|
NM_001875.5(CPS1):c.301del (p.Ile101fs)
|
rs1553509303
|
|
NM_001875.5(CPS1):c.3038_3039del (p.Val1013fs)
|
|
|
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)
|
rs1288123680
|
|
NM_001875.5(CPS1):c.3125A>C (p.Asp1042Ala)
|
rs1574632659
|
|
NM_001875.5(CPS1):c.3132C>A (p.Tyr1044Ter)
|
rs1700264768
|
|
NM_001875.5(CPS1):c.3141+1G>A
|
rs1553516660
|
|
NM_001875.5(CPS1):c.3141+2T>C
|
rs2105901763
|
|
NM_001875.5(CPS1):c.3147T>A (p.Cys1049Ter)
|
rs1700428230
|
|
NM_001875.5(CPS1):c.3169G>T (p.Gly1057Ter)
|
|
|
NM_001875.5(CPS1):c.3185del (p.Asn1062fs)
|
rs1553517122
|
|
NM_001875.5(CPS1):c.3266G>A (p.Arg1089His)
|
|
|
NM_001875.5(CPS1):c.3266G>C (p.Arg1089Pro)
|
|
|
NM_001875.5(CPS1):c.3298A>T (p.Lys1100Ter)
|
|
|
NM_001875.5(CPS1):c.3319A>T (p.Lys1107Ter)
|
|
|
NM_001875.5(CPS1):c.3336+1G>A
|
rs1700437565
|
|
NM_001875.5(CPS1):c.3337-1G>T
|
rs1700452978
|
|
NM_001875.5(CPS1):c.3349G>T (p.Glu1117Ter)
|
rs779856996
|
|
NM_001875.5(CPS1):c.3358A>T (p.Lys1120Ter)
|
|
|
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs)
|
rs1700454068
|
|
NM_001875.5(CPS1):c.3375del (p.Cys1126fs)
|
rs1553517224
|
|
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter)
|
rs2105908864
|
|
NM_001875.5(CPS1):c.3405-2A>G
|
rs2105910926
|
|
NM_001875.5(CPS1):c.3457G>T (p.Glu1153Ter)
|
rs1700523651
|
|
NM_001875.5(CPS1):c.3509_3511delinsA (p.Val1170fs)
|
|
|
NM_001875.5(CPS1):c.3510_3511del (p.Glu1171fs)
|
|
|
NM_001875.5(CPS1):c.3517G>C (p.Ala1173Pro)
|
rs1574646079
|
|
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys)
|
rs146968493
|
|
NM_001875.5(CPS1):c.3542_3546delinsA (p.Val1181fs)
|
|
|
NM_001875.5(CPS1):c.3543_3546del (p.Gly1182fs)
|
|
|
NM_001875.5(CPS1):c.3558_3558+1dup
|
rs1553517670
|
|
NM_001875.5(CPS1):c.3559-2A>G
|
rs766584384
|
|
NM_001875.5(CPS1):c.3559G>T (p.Val1187Phe)
|
|
|
NM_001875.5(CPS1):c.3610G>T (p.Gly1204Ter)
|
rs1700715255
|
|
NM_001875.5(CPS1):c.3637C>T (p.Gln1213Ter)
|
rs774692248
|
|
NM_001875.5(CPS1):c.3661G>T (p.Glu1221Ter)
|
|
|
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.3768T>A (p.Cys1256Ter)
|
rs1700881929
|
|
NM_001875.5(CPS1):c.3793C>T (p.Pro1265Ser)
|
|
|
NM_001875.5(CPS1):c.381+2T>C
|
rs1574543988
|
|
NM_001875.5(CPS1):c.3812_3813insAGTATTC (p.Gly1272fs)
|
|
|
NM_001875.5(CPS1):c.3824_3825delinsGTCTCTT (p.Phe1275fs)
|
|
|
NM_001875.5(CPS1):c.3933del (p.Met1312fs)
|
|
|
NM_001875.5(CPS1):c.3944G>A (p.Trp1315Ter)
|
|
|
NM_001875.5(CPS1):c.3977_3978del (p.Arg1326fs)
|
|
|
NM_001875.5(CPS1):c.3980G>A (p.Cys1327Tyr)
|
rs1553518389
|
|
NM_001875.5(CPS1):c.3G>T (p.Met1Ile)
|
rs1553507155
|
|
NM_001875.5(CPS1):c.4002+2T>A
|
rs1553518395
|
|
NM_001875.5(CPS1):c.4003-1G>C
|
rs1553518720
|
|
NM_001875.5(CPS1):c.4003-2A>C
|
|
|
NM_001875.5(CPS1):c.4003-2A>T
|
rs1553518719
|
|
NM_001875.5(CPS1):c.4056del (p.Thr1353fs)
|
rs1553518726
|
|
NM_001875.5(CPS1):c.4066A>T (p.Lys1356Ter)
|
rs1305147387
|
|
NM_001875.5(CPS1):c.4088_4099del (p.Leu1363_Ile1366del)
|
rs766705843
|
|
NM_001875.5(CPS1):c.4099C>T (p.Gln1367Ter)
|
rs1701172643
|
|
NM_001875.5(CPS1):c.4101+2T>C
|
rs767575696
|
|
NM_001875.5(CPS1):c.4161+1G>A
|
|
|
NM_001875.5(CPS1):c.4162-2A>G
|
|
|
NM_001875.5(CPS1):c.4273A>T (p.Lys1425Ter)
|
|
|
NM_001875.5(CPS1):c.4358G>A (p.Arg1453Gln)
|
rs1559142152
|
|
NM_001875.5(CPS1):c.4404+3A>G
|
|
|
NM_001875.5(CPS1):c.460C>T (p.Gln154Ter)
|
|
|
NM_001875.5(CPS1):c.486T>A (p.Tyr162Ter)
|
|
|
NM_001875.5(CPS1):c.528+2T>C
|
rs1574548003
|
|
NM_001875.5(CPS1):c.594_595del (p.Asn199fs)
|
rs1553509924
|
|
NM_001875.5(CPS1):c.622-2A>G
|
rs2106103778
|
|
NM_001875.5(CPS1):c.675_676del (p.Cys225fs)
|
|
|
NM_001875.5(CPS1):c.711+1G>C
|
rs1553510520
|
|
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.763G>T (p.Glu255Ter)
|
rs756021170
|
|
NM_001875.5(CPS1):c.794C>T (p.Pro265Leu)
|
|
|
NM_001875.5(CPS1):c.798del (p.Asn267fs)
|
rs1553510944
|
|
NM_001875.5(CPS1):c.840+1G>T
|
rs1206168005
|
|
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn)
|
rs753751183
|
|
NM_001875.5(CPS1):c.947+1G>A
|
rs2106109125
|
|