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_001122633.3(CPS1):c.-16+12G>A
|
rs17552879
|
0.43006
|
NM_001875.5(CPS1):c.3405-29A>T
|
rs3213784
|
0.37981
|
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn)
|
rs1047891
|
0.33052
|
NM_001875.5(CPS1):c.3756+45C>T
|
rs6435580
|
0.24723
|
NM_001875.5(CPS1):c.2193-15G>T
|
rs2287600
|
0.09707
|
NM_001875.5(CPS1):c.4275-10A>G
|
rs41272673
|
0.03250
|
NM_001875.5(CPS1):c.2830-18A>G
|
rs116664530
|
0.02055
|
NM_001875.5(CPS1):c.2448C>T (p.Cys816=)
|
rs75395645
|
0.01788
|
NM_001875.5(CPS1):c.2391+18T>G
|
rs59741271
|
0.01764
|
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr)
|
rs76340296
|
0.01465
|
NM_001122633.3(CPS1):c.-34G>A
|
rs111491997
|
0.01369
|
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.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.4260C>G (p.Leu1420=)
|
rs138395129
|
0.00621
|
NM_001875.5(CPS1):c.3481-8C>T
|
rs41272669
|
0.00424
|
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.783C>T (p.Ile261=)
|
rs142468138
|
0.00174
|
NM_001875.5(CPS1):c.3558+38C>G
|
rs188757166
|
0.00160
|
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_001875.5(CPS1):c.1437G>A (p.Ala479=)
|
rs80261173
|
0.00114
|
NM_001875.5(CPS1):c.2192+6A>T
|
rs201058019
|
0.00081
|
NM_001875.5(CPS1):c.381+17C>T
|
rs374364413
|
0.00076
|
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.2391+20C>T
|
rs376315320
|
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.2421G>A (p.Glu807=)
|
rs140726293
|
0.00025
|
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.1550-17_1550-13del
|
rs754222806
|
0.00016
|
NM_001875.5(CPS1):c.126+18T>A
|
rs201351777
|
0.00014
|
NM_001875.5(CPS1):c.2352A>G (p.Thr784=)
|
rs182565798
|
0.00014
|
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.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
NM_001875.5(CPS1):c.2544C>T (p.Ser848=)
|
rs142818109
|
0.00006
|
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr)
|
rs537170841
|
0.00006
|
NM_001875.5(CPS1):c.1131C>T (p.His377=)
|
rs372421311
|
0.00004
|
NM_001875.5(CPS1):c.1165-5T>C
|
rs565003226
|
0.00004
|
NM_001875.5(CPS1):c.1359+19T>C
|
rs759580115
|
0.00004
|
NM_001875.5(CPS1):c.236+15T>C
|
rs538300887
|
0.00004
|
NM_001875.5(CPS1):c.712-11C>T
|
rs561995236
|
0.00004
|
NM_001875.5(CPS1):c.1201G>C (p.Gly401Arg)
|
rs760895692
|
0.00002
|
NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp)
|
rs139818667
|
0.00002
|
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu)
|
rs147062907
|
0.00002
|
NM_001875.5(CPS1):c.1716T>C (p.Asp572=)
|
rs764231738
|
0.00001
|
NM_001875.5(CPS1):c.2454A>G (p.Pro818=)
|
rs765712117
|
0.00001
|
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val)
|
rs766125631
|
0.00001
|
NM_001875.5(CPS1):c.3666+7A>G
|
rs776903581
|
0.00001
|
NM_001875.5(CPS1):c.4300C>T (p.Leu1434=)
|
rs752311782
|
0.00001
|
NM_001875.5(CPS1):c.471+14T>C
|
rs914408029
|
0.00001
|
GRCh37/hg19 2q34(chr2:211445066-211674837)
|
|
|
NM_001122633.3(CPS1):c.-74_-54dup
|
rs1375135144
|
|
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)
|
rs386654705
|
|
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.1030_1032delinsTCT (p.Thr344Ser)
|
rs386654705
|
|
NM_001875.5(CPS1):c.1169T>G (p.Leu390Arg)
|
rs2106116333
|
|
NM_001875.5(CPS1):c.1263+8TG[4]
|
rs1553511697
|
|
NM_001875.5(CPS1):c.127-13A>C
|
rs1553508991
|
|
NM_001875.5(CPS1):c.127-20del
|
rs1064794481
|
|
NM_001875.5(CPS1):c.1878G>T (p.Val626=)
|
rs1057522548
|
|
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg)
|
rs1553512974
|
|
NM_001875.5(CPS1):c.2002C>T (p.Pro668Ser)
|
|
|
NM_001875.5(CPS1):c.2021A>T (p.Asn674Ile)
|
|
|
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys)
|
rs1559102901
|
|
NM_001875.5(CPS1):c.2162G>A (p.Arg721Gln)
|
|
|
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.2407C>T (p.Arg803Cys)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2829+20C>G
|
rs1057524082
|
|
NM_001875.5(CPS1):c.2830-19T>C
|
rs1553516321
|
|
NM_001875.5(CPS1):c.2830-19_2830-15del
|
rs768083645
|
|
NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser)
|
|
|
NM_001875.5(CPS1):c.3069C>A (p.Asp1023Glu)
|
|
|
NM_001875.5(CPS1):c.3404+9_3404+10del
|
rs557000347
|
|
NM_001875.5(CPS1):c.3481-7G>A
|
rs368909569
|
|
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys)
|
rs146968493
|
|
NM_001875.5(CPS1):c.3559-7del
|
rs58225253
|
|
NM_001875.5(CPS1):c.3927+4A>G
|
|
|
NM_001875.5(CPS1):c.3928-16T>C
|
rs1057522781
|
|
NM_001875.5(CPS1):c.3928-8del
|
rs397703682
|
|
NM_001875.5(CPS1):c.3928-9_3928-8del
|
rs397703682
|
|
NM_001875.5(CPS1):c.3959A>T (p.Asp1320Val)
|
|
|
NM_001875.5(CPS1):c.4003-12A>G
|
rs534566099
|
|
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.927C>T (p.Tyr309=)
|
rs1553511083
|
|