NM_001875.5(CPS1):c.2679C>G (p.Gly893=)
|
rs2287599
|
0.64925
|
NM_001875.5(CPS1):c.1032C>T (p.Thr344=)
|
rs2229589
|
0.59558
|
NM_001875.5(CPS1):c.*438T>G
|
rs7684
|
0.36145
|
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)
|
rs1047891
|
0.33052
|
NM_001875.5(CPS1):c.*346T>C
|
rs715
|
0.27930
|
NM_001875.5(CPS1):c.*692C>G
|
rs12476133
|
0.24256
|
NM_001875.5(CPS1):c.2193-15G>T
|
rs2287600
|
0.09707
|
NM_001875.5(CPS1):c.*380C>G
|
rs10932349
|
0.07637
|
NM_001875.5(CPS1):c.4275-10A>G
|
rs41272673
|
0.03250
|
NM_001875.5(CPS1):c.*829T>C
|
rs79296773
|
0.02814
|
NM_001875.5(CPS1):c.*754T>G
|
rs73078125
|
0.01899
|
NM_001875.5(CPS1):c.2448C>T (p.Cys816=)
|
rs75395645
|
0.01788
|
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr)
|
rs76340296
|
0.01465
|
NM_001875.5(CPS1):c.1068C>G (p.Val356=)
|
rs34022862
|
0.01287
|
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser)
|
rs140578009
|
0.01275
|
NM_001875.5(CPS1):c.*946C>T
|
rs139770263
|
0.01212
|
NM_001875.5(CPS1):c.1359+7G>A
|
rs16844647
|
0.00860
|
NM_001875.5(CPS1):c.-29T>G
|
rs147937942
|
0.00830
|
NM_001875.5(CPS1):c.2394C>A (p.Val798=)
|
rs35678745
|
0.00828
|
NM_001875.5(CPS1):c.*314T>A
|
rs115293884
|
0.00624
|
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=)
|
rs138395129
|
0.00621
|
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)
|
rs114819130
|
0.00617
|
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met)
|
rs79627159
|
0.00546
|
NM_001875.5(CPS1):c.-128G>A
|
rs182021022
|
0.00484
|
NM_001875.5(CPS1):c.3481-8C>T
|
rs41272669
|
0.00424
|
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn)
|
rs115897023
|
0.00412
|
NM_001875.5(CPS1):c.*849A>G
|
rs150782174
|
0.00302
|
NM_001875.5(CPS1):c.486T>C (p.Tyr162=)
|
rs138779023
|
0.00295
|
NM_001875.5(CPS1):c.529-4A>T
|
rs191182348
|
0.00289
|
NM_001875.5(CPS1):c.3033G>C (p.Val1011=)
|
rs35374255
|
0.00230
|
NM_001875.5(CPS1):c.783C>T (p.Ile261=)
|
rs142468138
|
0.00174
|
NM_001875.5(CPS1):c.3928-15T>C
|
rs552764351
|
0.00173
|
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser)
|
rs150966847
|
0.00131
|
NM_001875.5(CPS1):c.*274G>A
|
rs528584074
|
0.00130
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
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.*187C>T
|
rs543723956
|
0.00079
|
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)
|
rs142916171
|
0.00065
|
NM_001875.5(CPS1):c.*427C>T
|
rs111328810
|
0.00062
|
NM_001875.5(CPS1):c.2025C>T (p.Ala675=)
|
rs143913650
|
0.00058
|
NM_001875.5(CPS1):c.195C>T (p.Ser65=)
|
rs192759073
|
0.00054
|
NM_001875.5(CPS1):c.948-6C>T
|
rs112199960
|
0.00052
|
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val)
|
rs138424013
|
0.00049
|
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)
|
rs368890059
|
0.00040
|
NM_001875.5(CPS1):c.2909A>G (p.Asn970Ser)
|
rs150485422
|
0.00039
|
NM_001875.5(CPS1):c.1918G>T (p.Ala640Ser)
|
rs142693704
|
0.00035
|
NM_001875.5(CPS1):c.1116C>T (p.Phe372=)
|
rs200465544
|
0.00029
|
NM_001875.5(CPS1):c.1569A>G (p.Arg523=)
|
rs140475976
|
0.00026
|
NM_001875.5(CPS1):c.234A>G (p.Gly78=)
|
rs182678639
|
0.00021
|
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)
|
rs150314086
|
0.00021
|
NM_001875.5(CPS1):c.4404+4T>A
|
rs199739254
|
0.00020
|
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr)
|
rs200569046
|
0.00018
|
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=)
|
rs150601728
|
0.00017
|
NM_001875.5(CPS1):c.*976C>T
|
rs763063376
|
0.00016
|
NM_001875.5(CPS1):c.3466A>T (p.Thr1156Ser)
|
rs201246466
|
0.00013
|
NM_001875.5(CPS1):c.*1087T>C
|
rs760593059
|
0.00012
|
NM_001875.5(CPS1):c.186C>T (p.Gly62=)
|
rs529836556
|
0.00010
|
NM_001875.5(CPS1):c.3796T>C (p.Phe1266Leu)
|
rs373841124
|
0.00010
|
NM_001875.5(CPS1):c.1087-7C>T
|
rs202117044
|
0.00009
|
NM_001875.5(CPS1):c.1154T>C (p.Ile385Thr)
|
rs201955205
|
0.00009
|
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr)
|
rs140999077
|
0.00009
|
NM_001875.5(CPS1):c.528+9A>G
|
rs369476447
|
0.00008
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile)
|
rs199878637
|
0.00006
|
NM_001875.5(CPS1):c.3682C>T (p.Arg1228Trp)
|
rs367595060
|
0.00006
|
NM_001875.5(CPS1):c.4173G>A (p.Thr1391=)
|
rs201710257
|
0.00006
|
NM_001875.5(CPS1):c.*658A>G
|
rs559191307
|
0.00005
|
NM_001875.5(CPS1):c.*848G>A
|
rs142796725
|
0.00005
|
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)
|
rs146064786
|
0.00005
|
NM_001875.5(CPS1):c.-4C>A
|
rs768210605
|
0.00004
|
NM_001875.5(CPS1):c.4404+5A>T
|
rs375785288
|
0.00004
|
NM_001875.5(CPS1):c.712-11C>T
|
rs561995236
|
0.00004
|
NM_001875.5(CPS1):c.*235A>T
|
rs6728169
|
0.00003
|
NM_001875.5(CPS1):c.*808G>T
|
rs943762320
|
0.00003
|
NM_001875.5(CPS1):c.3724G>A (p.Val1242Ile)
|
rs766236739
|
0.00003
|
NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala)
|
rs755035266
|
0.00002
|
NM_001875.5(CPS1):c.302T>C (p.Ile101Thr)
|
rs186877621
|
0.00002
|
NM_001875.5(CPS1):c.4019A>G (p.Glu1340Gly)
|
rs748968097
|
0.00002
|
NM_001875.5(CPS1):c.*1117A>G
|
rs886055564
|
0.00001
|
NM_001875.5(CPS1):c.*424A>C
|
rs1414802360
|
0.00001
|
NM_001875.5(CPS1):c.*739T>G
|
rs886055560
|
0.00001
|
NM_001875.5(CPS1):c.*913G>T
|
rs541817831
|
0.00001
|
NM_001875.5(CPS1):c.-76A>G
|
rs372753413
|
0.00001
|
NM_001875.5(CPS1):c.1063A>G (p.Asn355Asp)
|
rs1472190012
|
0.00001
|
NM_001875.5(CPS1):c.112C>T (p.Leu38Phe)
|
rs749164722
|
0.00001
|
NM_001875.5(CPS1):c.1400C>T (p.Ala467Val)
|
rs746395584
|
0.00001
|
NM_001875.5(CPS1):c.2454A>G (p.Pro818=)
|
rs765712117
|
0.00001
|
NM_001875.5(CPS1):c.2809_2810del (p.Ile937fs)
|
rs1318756445
|
0.00001
|
NM_001875.5(CPS1):c.3127A>G (p.Ile1043Val)
|
rs200237771
|
0.00001
|
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=)
|
rs369030433
|
0.00001
|
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=)
|
rs749825961
|
0.00001
|
NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln)
|
rs553145464
|
0.00001
|
NM_001875.5(CPS1):c.3558+7G>A
|
rs764456030
|
0.00001
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
NM_001875.5(CPS1):c.4274+2T>C
|
rs1374322297
|
0.00001
|
NM_001875.5(CPS1):c.937A>G (p.Met313Val)
|
rs587780323
|
0.00001
|
NM_001875.5(CPS1):c.*1040C>T
|
rs886055562
|
|
NM_001875.5(CPS1):c.*1068G>T
|
rs886055563
|
|
NM_001875.5(CPS1):c.*311A>G
|
rs886055558
|
|
NM_001875.5(CPS1):c.*387C>T
|
rs886055559
|
|
NM_001875.5(CPS1):c.*5G>A
|
rs886055556
|
|
NM_001875.5(CPS1):c.*747A>G
|
rs1701612032
|
|
NM_001875.5(CPS1):c.*74T>C
|
rs886055557
|
|
NM_001875.5(CPS1):c.*777A>G
|
rs886055561
|
|
NM_001875.5(CPS1):c.-4_-3insTTC
|
rs61509952
|
|
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala)
|
rs1047883
|
|
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser)
|
rs1047883
|
|
NM_001875.5(CPS1):c.1165-12A>G
|
rs1574566498
|
|
NM_001875.5(CPS1):c.1982-1G>C
|
rs1559102636
|
|
NM_001875.5(CPS1):c.1982-8A>T
|
rs563304664
|
|
NM_001875.5(CPS1):c.2186C>T (p.Ala729Val)
|
rs1698935242
|
|
NM_001875.5(CPS1):c.2265C>A (p.Ser755=)
|
rs41272667
|
|
NM_001875.5(CPS1):c.2265C>T (p.Ser755=)
|
rs41272667
|
|
NM_001875.5(CPS1):c.2391G>T (p.Glu797Asp)
|
rs1181945940
|
|
NM_001875.5(CPS1):c.2688-12A>G
|
rs376699772
|
|
NM_001875.5(CPS1):c.2749A>G (p.Ile917Val)
|
rs886055552
|
|
NM_001875.5(CPS1):c.2932G>T (p.Val978Leu)
|
rs779342929
|
|
NM_001875.5(CPS1):c.2959+1del
|
rs1559121934
|
|
NM_001875.5(CPS1):c.2982G>C (p.Trp994Cys)
|
rs1700257191
|
|
NM_001875.5(CPS1):c.3141+15del
|
rs577707531
|
|
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)
|
rs761921978
|
|
NM_001875.5(CPS1):c.3481-7G>A
|
rs368909569
|
|
NM_001875.5(CPS1):c.3481-7G>C
|
rs368909569
|
|
NM_001875.5(CPS1):c.3558+8C>T
|
rs1700638481
|
|
NM_001875.5(CPS1):c.3857A>T (p.Glu1286Val)
|
rs886055554
|
|
NM_001875.5(CPS1):c.3874C>T (p.His1292Tyr)
|
rs886055555
|
|
NM_001875.5(CPS1):c.945C>G (p.Asn315Lys)
|
rs761974037
|
|