NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
NM_001875.5(CPS1):c.2192+6A>T
|
rs201058019
|
0.00081
|
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser)
|
rs148584272
|
0.00064
|
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln)
|
rs147294932
|
0.00060
|
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)
|
rs138424013
|
0.00049
|
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)
|
rs141481633
|
0.00043
|
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)
|
rs150485422
|
0.00039
|
NM_001875.5(CPS1):c.2275T>A (p.Ser759Thr)
|
rs150012540
|
0.00027
|
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)
|
rs150314086
|
0.00021
|
NM_001875.5(CPS1):c.2236C>A (p.Pro746Thr)
|
rs139740322
|
0.00014
|
NM_001875.5(CPS1):c.121G>T (p.Val41Phe)
|
rs148708735
|
0.00013
|
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr)
|
rs201340295
|
0.00010
|
NM_001875.5(CPS1):c.1087-7C>T
|
rs202117044
|
0.00009
|
NM_001875.5(CPS1):c.528+9A>G
|
rs369476447
|
0.00008
|
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)
|
rs199878637
|
0.00006
|
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr)
|
rs142369181
|
0.00006
|
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr)
|
rs537170841
|
0.00006
|
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp)
|
rs367595060
|
0.00006
|
NM_001875.5(CPS1):c.2066G>A (p.Arg689His)
|
rs201256385
|
0.00005
|
NM_001875.5(CPS1):c.3757-10A>C
|
rs201251176
|
0.00004
|
NM_001875.5(CPS1):c.785C>T (p.Ala262Val)
|
rs372217508
|
0.00004
|
NM_001875.5(CPS1):c.2458A>G (p.Ile820Val)
|
rs554763314
|
0.00003
|
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)
|
rs555151297
|
0.00003
|
NM_001875.5(CPS1):c.1365A>C (p.Glu455Asp)
|
rs1248150090
|
0.00002
|
NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala)
|
rs755035266
|
0.00002
|
NM_001875.5(CPS1):c.2459T>C (p.Ile820Thr)
|
rs763191148
|
0.00002
|
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala)
|
rs747085519
|
0.00002
|
NM_001875.5(CPS1):c.1092T>G (p.Ile364Met)
|
rs772077620
|
0.00001
|
NM_001875.5(CPS1):c.1208C>G (p.Ala403Gly)
|
rs754023105
|
0.00001
|
NM_001875.5(CPS1):c.1456C>T (p.Pro486Ser)
|
rs1419745583
|
0.00001
|
NM_001875.5(CPS1):c.1673A>G (p.Asn558Ser)
|
rs1698690768
|
0.00001
|
NM_001875.5(CPS1):c.1708-5G>A
|
rs571670790
|
0.00001
|
NM_001875.5(CPS1):c.2441G>A (p.Arg814Gln)
|
rs200731808
|
0.00001
|
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val)
|
rs121912595
|
0.00001
|
NM_001875.5(CPS1):c.3272T>G (p.Ile1091Ser)
|
rs538878532
|
0.00001
|
NM_001875.5(CPS1):c.3303G>A (p.Val1101=)
|
rs774531676
|
0.00001
|
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val)
|
rs766125631
|
0.00001
|
NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln)
|
rs553145464
|
0.00001
|
NM_001875.5(CPS1):c.3552T>G (p.Asp1184Glu)
|
rs769391518
|
0.00001
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
NM_001875.5(CPS1):c.390T>A (p.Gly130=)
|
rs577598098
|
0.00001
|
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)
|
rs765106604
|
0.00001
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
NM_001875.5(CPS1):c.586A>G (p.Asn196Asp)
|
rs770935194
|
0.00001
|
NM_001875.5(CPS1):c.655A>G (p.Lys219Glu)
|
rs769324029
|
0.00001
|
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys)
|
rs767905306
|
0.00001
|
NM_001875.5(CPS1):c.856C>T (p.Arg286Cys)
|
rs202130487
|
0.00001
|
NM_001875.5(CPS1):c.1109C>G (p.Pro370Arg)
|
rs149107897
|
|
NM_001875.5(CPS1):c.1299G>C (p.Leu433=)
|
rs1698454990
|
|
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp)
|
rs1553511785
|
|
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp)
|
rs1255335680
|
|
NM_001875.5(CPS1):c.15G>C (p.Leu5Phe)
|
rs1696924953
|
|
NM_001875.5(CPS1):c.1648T>C (p.Phe550Leu)
|
rs1016767752
|
|
NM_001875.5(CPS1):c.1707+3A>G
|
rs754232832
|
|
NM_001875.5(CPS1):c.1721T>G (p.Leu574Arg)
|
rs1698750285
|
|
NM_001875.5(CPS1):c.1727C>A (p.Ala576Glu)
|
rs1698750847
|
|
NM_001875.5(CPS1):c.1730C>T (p.Ala577Val)
|
rs1559099882
|
|
NM_001875.5(CPS1):c.1754T>C (p.Met585Thr)
|
rs1698751783
|
|
NM_001875.5(CPS1):c.1776G>C (p.Leu592=)
|
rs995238182
|
|
NM_001875.5(CPS1):c.1905A>T (p.Glu635Asp)
|
rs1698862176
|
|
NM_001875.5(CPS1):c.1949T>C (p.Met650Thr)
|
rs1698865403
|
|
NM_001875.5(CPS1):c.2011A>G (p.Thr671Ala)
|
rs1698926726
|
|
NM_001875.5(CPS1):c.2048C>G (p.Thr683Ser)
|
rs753106342
|
|
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu)
|
rs551261693
|
|
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys)
|
rs1559102901
|
|
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2475C>T (p.Pro825=)
|
rs751784059
|
|
NM_001875.5(CPS1):c.2568+10T>C
|
rs1304867658
|
|
NM_001875.5(CPS1):c.2959+8_2959+14del
|
rs765645129
|
|
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe)
|
rs1404696893
|
|
NM_001875.5(CPS1):c.3736G>A (p.Val1246Ile)
|
rs753784617
|
|
NM_001875.5(CPS1):c.593A>C (p.Gln198Pro)
|
rs1376851408
|
|
NM_001875.5(CPS1):c.74C>T (p.Ala25Val)
|
rs149570645
|
|
NM_001875.5(CPS1):c.773G>C (p.Gly258Ala)
|
rs778299777
|
|