NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn)
|
rs138254425
|
0.00392
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)
|
rs138424013
|
0.00049
|
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)
|
rs150485422
|
0.00039
|
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr)
|
rs201955205
|
0.00009
|
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.2623A>G (p.Lys875Glu)
|
rs147062907
|
0.00002
|
NM_001875.5(CPS1):c.1708-5G>A
|
rs571670790
|
0.00001
|
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met)
|
rs1294236456
|
0.00001
|
NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr)
|
rs754433289
|
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.4002G>A (p.Glu1334=)
|
rs774434356
|
0.00001
|
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)
|
rs386654705
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)
|
rs772497399
|
|
NM_001875.5(CPS1):c.209_216dup (p.Phe73fs)
|
rs1553509010
|
|
NM_001875.5(CPS1):c.2265C>T (p.Ser755=)
|
rs41272667
|
|
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
|
rs201716417
|
|
NM_001875.5(CPS1):c.3250G>A (p.Asp1084Asn)
|
rs777363145
|
|
NM_001875.5(CPS1):c.3336+1G>A
|
rs1700437565
|
|
NM_001875.5(CPS1):c.3380T>A (p.Leu1127Ter)
|
rs2105908864
|
|
NM_001875.5(CPS1):c.3928-8del
|
rs397703682
|
|
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu)
|
rs762494955
|
|