NM_001875.5(CPS1):c.4102-561T>C
|
rs550848657
|
0.00220
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
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.3265C>T (p.Arg1089Cys)
|
rs1392559810
|
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.1837-8A>G
|
rs1290474919
|
0.00001
|
NM_001875.5(CPS1):c.259C>T (p.Pro87Ser)
|
rs1553509297
|
0.00001
|
NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu)
|
rs1388955593
|
0.00001
|
NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu)
|
rs754706559
|
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.2944G>A (p.Gly982Ser)
|
rs757059355
|
0.00001
|
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)
|
rs121912595
|
0.00001
|
NM_001875.5(CPS1):c.2957T>C (p.Ile986Thr)
|
rs1553516442
|
0.00001
|
NM_001875.5(CPS1):c.3047A>G (p.Asn1016Ser)
|
rs749238466
|
0.00001
|
NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu)
|
rs770471782
|
0.00001
|
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val)
|
rs766125631
|
0.00001
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
NM_001875.5(CPS1):c.3784C>T (p.Arg1262Ter)
|
rs1414143303
|
0.00001
|
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln)
|
rs750670270
|
0.00001
|
NM_001875.5(CPS1):c.4102-563G>A
|
rs207462825
|
0.00001
|
NM_001875.5(CPS1):c.4274+2T>C
|
rs1374322297
|
0.00001
|
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu)
|
rs973321068
|
0.00001
|
NM_001122633.3(CPS1):c.-17T>G
|
rs763703546
|
|
NM_001875.5(CPS1):c.-3delinsTTCC
|
rs1553507151
|
|
NM_001875.5(CPS1):c.1025ACA[1] (p.Asn343del)
|
rs1553511264
|
|
NM_001875.5(CPS1):c.1086+1G>A
|
rs1553511326
|
|
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter)
|
rs961015305
|
|
NM_001875.5(CPS1):c.126+1G>A
|
rs1553507183
|
|
NM_001875.5(CPS1):c.1312G>A (p.Ala438Thr)
|
rs772497399
|
|
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter)
|
rs1553511789
|
|
NM_001875.5(CPS1):c.1355T>C (p.Met452Thr)
|
rs1553511794
|
|
NM_001875.5(CPS1):c.1413dup (p.Asn472fs)
|
rs1553512225
|
|
NM_001875.5(CPS1):c.1529del (p.Gly510fs)
|
rs764384490
|
|
NM_001875.5(CPS1):c.1760G>A (p.Arg587His)
|
rs1553512642
|
|
NM_001875.5(CPS1):c.1775dup (p.Gly594fs)
|
rs1341782266
|
|
NM_001875.5(CPS1):c.1864G>A (p.Val622Met)
|
rs1553512962
|
|
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg)
|
rs1553512974
|
|
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter)
|
rs202107577
|
|
NM_001875.5(CPS1):c.2193-1G>T
|
rs1553513387
|
|
NM_001875.5(CPS1):c.2227del (p.Ala742_Leu743insTer)
|
rs781088670
|
|
NM_001875.5(CPS1):c.236+1G>T
|
rs1553509023
|
|
NM_001875.5(CPS1):c.2391+1G>A
|
rs1553513433
|
|
NM_001875.5(CPS1):c.2392-1G>T
|
rs755882799
|
|
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2415T>G (p.Phe805Leu)
|
rs1553513861
|
|
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.2446T>C (p.Cys816Arg)
|
rs1553513870
|
|
NM_001875.5(CPS1):c.2537C>T (p.Pro846Leu)
|
rs1486364626
|
|
NM_001875.5(CPS1):c.2579ACA[1] (p.Asn861del)
|
rs763006780
|
|
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter)
|
rs1553507167
|
|
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys)
|
rs1553516443
|
|
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe)
|
rs1404696893
|
|
NM_001875.5(CPS1):c.301del (p.Ile101fs)
|
rs1553509303
|
|
NM_001875.5(CPS1):c.3141+1G>A
|
rs1553516660
|
|
NM_001875.5(CPS1):c.3185del (p.Asn1062fs)
|
rs1553517122
|
|
NM_001875.5(CPS1):c.3375del (p.Cys1126fs)
|
rs1553517224
|
|
NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys)
|
rs1553517387
|
|
NM_001875.5(CPS1):c.3558_3558+1dup
|
rs1553517670
|
|
NM_001875.5(CPS1):c.3559-2A>G
|
rs766584384
|
|
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val)
|
rs769593170
|
|
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>T
|
rs1553518719
|
|
NM_001875.5(CPS1):c.4056del (p.Thr1353fs)
|
rs1553518726
|
|
NM_001875.5(CPS1):c.4101+2T>C
|
rs767575696
|
|
NM_001875.5(CPS1):c.4102-559G>C
|
rs529803364
|
|
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu)
|
rs1202306773
|
|
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His)
|
rs1553519513
|
|
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu)
|
rs762494955
|
|
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp)
|
rs1553509661
|
|
NM_001875.5(CPS1):c.594_595del (p.Asn199fs)
|
rs1553509924
|
|
NM_001875.5(CPS1):c.711+1G>C
|
rs1553510520
|
|
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)
|
rs761225695
|
|
NM_001875.5(CPS1):c.763G>T (p.Glu255Ter)
|
rs756021170
|
|
NM_001875.5(CPS1):c.798del (p.Asn267fs)
|
rs1553510944
|
|
NM_001875.5(CPS1):c.840_840+5dup
|
rs1273243029
|
|