NM_001875.5(CPS1):c.*946C>T
|
rs139770263
|
0.01212
|
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)
|
rs114819130
|
0.00617
|
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.*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.4102-561T>C
|
rs550848657
|
0.00220
|
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.1630A>T (p.Thr544Ser)
|
rs144230667
|
0.00154
|
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.637G>A (p.Gly213Ser)
|
rs138392504
|
0.00102
|
NM_001875.5(CPS1):c.2192+6A>T
|
rs201058019
|
0.00081
|
NM_001875.5(CPS1):c.1416T>C (p.Asn472=)
|
rs148204462
|
0.00071
|
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn)
|
rs142916171
|
0.00065
|
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.2829+19T>C
|
rs370788477
|
0.00050
|
NM_001875.5(CPS1):c.1707+15dup
|
rs567549478
|
0.00049
|
NM_001875.5(CPS1):c.1707+16T>C
|
rs565200384
|
0.00049
|
NM_001875.5(CPS1):c.154G>A (p.Asp52Asn)
|
rs141481633
|
0.00043
|
NM_001875.5(CPS1):c.4089G>T (p.Leu1363=)
|
rs368890059
|
0.00040
|
NM_001875.5(CPS1):c.2391+20C>T
|
rs376315320
|
0.00039
|
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.2275T>A (p.Ser759Thr)
|
rs150012540
|
0.00027
|
NM_001875.5(CPS1):c.1569A>G (p.Arg523=)
|
rs140475976
|
0.00026
|
NM_001875.5(CPS1):c.2421G>A (p.Glu807=)
|
rs140726293
|
0.00025
|
NM_001875.5(CPS1):c.947+19T>C
|
rs201276852
|
0.00025
|
NM_001875.5(CPS1):c.1200A>G (p.Lys400=)
|
rs141545954
|
0.00024
|
NM_001875.5(CPS1):c.234A>G (p.Gly78=)
|
rs182678639
|
0.00021
|
NM_001875.5(CPS1):c.3481-4A>C
|
rs200229226
|
0.00021
|
NM_001875.5(CPS1):c.5C>T (p.Thr2Met)
|
rs150314086
|
0.00021
|
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.6G>A (p.Thr2=)
|
rs374246990
|
0.00016
|
NM_001875.5(CPS1):c.594G>A (p.Gln198=)
|
rs150369462
|
0.00015
|
NM_001875.5(CPS1):c.126+18T>A
|
rs201351777
|
0.00014
|
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.3466A>T (p.Thr1156Ser)
|
rs201246466
|
0.00013
|
NM_001875.5(CPS1):c.1071C>T (p.Asn357=)
|
rs146683599
|
0.00010
|
NM_001875.5(CPS1):c.2696T>C (p.Met899Thr)
|
rs201340295
|
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.942C>A (p.Ala314=)
|
rs774427324
|
0.00009
|
NM_001875.5(CPS1):c.1836+15A>G
|
rs370795545
|
0.00008
|
NM_001875.5(CPS1):c.3921A>G (p.Ala1307=)
|
rs780550238
|
0.00008
|
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.487G>A (p.Gly163Arg)
|
rs200214298
|
0.00007
|
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.2392-9G>A
|
rs374695266
|
0.00006
|
NM_001875.5(CPS1):c.2544C>T (p.Ser848=)
|
rs142818109
|
0.00006
|
NM_001875.5(CPS1):c.2745G>A (p.Lys915=)
|
rs143659334
|
0.00006
|
NM_001875.5(CPS1):c.3219C>G (p.Val1073=)
|
rs374964409
|
0.00006
|
NM_001875.5(CPS1):c.3234A>G (p.Thr1078=)
|
rs148570490
|
0.00006
|
NM_001875.5(CPS1):c.3408G>A (p.Gly1136=)
|
rs147776702
|
0.00006
|
NM_001875.5(CPS1):c.4173G>A (p.Thr1391=)
|
rs201710257
|
0.00006
|
NM_001875.5(CPS1):c.4488T>C (p.Ala1496=)
|
rs141982972
|
0.00006
|
NM_001875.5(CPS1):c.636C>T (p.Tyr212=)
|
rs138724401
|
0.00006
|
NM_001875.5(CPS1):c.1632G>A (p.Thr544=)
|
rs755530984
|
0.00005
|
NM_001875.5(CPS1):c.2733G>A (p.Gly911=)
|
rs571189660
|
0.00005
|
NM_001875.5(CPS1):c.3121C>T (p.Leu1041=)
|
rs146064786
|
0.00005
|
NM_001875.5(CPS1):c.1131C>T (p.His377=)
|
rs372421311
|
0.00004
|
NM_001875.5(CPS1):c.1359+19T>C
|
rs759580115
|
0.00004
|
NM_001875.5(CPS1):c.1764C>T (p.Ser588=)
|
rs374071271
|
0.00004
|
NM_001875.5(CPS1):c.1929T>C (p.Asn643=)
|
rs367848165
|
0.00004
|
NM_001875.5(CPS1):c.2019C>T (p.Ser673=)
|
rs374595822
|
0.00004
|
NM_001875.5(CPS1):c.236+15T>C
|
rs538300887
|
0.00004
|
NM_001875.5(CPS1):c.2427C>T (p.Phe809=)
|
rs747718128
|
0.00004
|
NM_001875.5(CPS1):c.2568+9T>C
|
rs752578602
|
0.00004
|
NM_001875.5(CPS1):c.2687+9G>T
|
rs377094467
|
0.00004
|
NM_001875.5(CPS1):c.3414T>G (p.Ala1138=)
|
rs761875285
|
0.00004
|
NM_001875.5(CPS1):c.3667-20G>A
|
rs369845787
|
0.00004
|
NM_001875.5(CPS1):c.3756+14A>G
|
rs771430083
|
0.00004
|
NM_001875.5(CPS1):c.3757-10A>C
|
rs201251176
|
0.00004
|
NM_001875.5(CPS1):c.378C>T (p.Ile126=)
|
rs780425393
|
0.00004
|
NM_001875.5(CPS1):c.4101+8G>A
|
rs754780089
|
0.00004
|
NM_001875.5(CPS1):c.472-5T>G
|
rs747103515
|
0.00004
|
NM_001875.5(CPS1):c.712-11C>T
|
rs561995236
|
0.00004
|
NM_001875.5(CPS1):c.771T>C (p.Asp257=)
|
rs373865114
|
0.00004
|
NM_001875.5(CPS1):c.785C>T (p.Ala262Val)
|
rs372217508
|
0.00004
|
NM_001875.5(CPS1):c.819A>G (p.Pro273=)
|
rs140890568
|
0.00004
|
NM_001875.5(CPS1):c.1662A>G (p.Leu554=)
|
rs778112132
|
0.00003
|
NM_001875.5(CPS1):c.1707+11T>G
|
rs377732856
|
0.00003
|
NM_001875.5(CPS1):c.3404+8T>A
|
rs767159571
|
0.00003
|
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile)
|
rs555151297
|
0.00003
|
NM_001875.5(CPS1):c.3952T>C (p.Leu1318=)
|
rs769593170
|
0.00003
|
NM_001875.5(CPS1):c.4164G>A (p.Leu1388=)
|
rs750003966
|
0.00003
|
NM_001875.5(CPS1):c.840+10A>G
|
rs778447367
|
0.00003
|
NM_001875.5(CPS1):c.1275C>T (p.Val425=)
|
rs202149657
|
0.00002
|
NM_001875.5(CPS1):c.1425C>T (p.Gly475=)
|
rs764341671
|
0.00002
|
NM_001875.5(CPS1):c.1550-5T>C
|
rs779060657
|
0.00002
|
NM_001875.5(CPS1):c.2256C>T (p.Asn752=)
|
rs770788292
|
0.00002
|
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser)
|
rs750006303
|
0.00002
|
NM_001875.5(CPS1):c.2892T>A (p.Gly964=)
|
rs770984739
|
0.00002
|
NM_001875.5(CPS1):c.3030G>A (p.Thr1010=)
|
rs372027160
|
0.00002
|
NM_001875.5(CPS1):c.3954G>A (p.Leu1318=)
|
rs1447002867
|
0.00002
|
NM_001875.5(CPS1):c.4023T>C (p.Gly1341=)
|
rs1324553117
|
0.00002
|
NM_001875.5(CPS1):c.4047A>G (p.Ala1349=)
|
rs772642343
|
0.00002
|
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala)
|
rs747085519
|
0.00002
|
NM_001875.5(CPS1):c.764A>C (p.Glu255Ala)
|
rs780006153
|
0.00002
|
NM_001875.5(CPS1):c.841-8del
|
rs745402454
|
0.00002
|
NM_001875.5(CPS1):c.84A>G (p.Lys28=)
|
rs574128765
|
0.00002
|
NM_001875.5(CPS1):c.883A>G (p.Thr295Ala)
|
rs143608594
|
0.00002
|
NM_001875.5(CPS1):c.1029C>T (p.Asn343=)
|
rs747138655
|
0.00001
|
NM_001875.5(CPS1):c.1146G>A (p.Pro382=)
|
rs773257710
|
0.00001
|
NM_001875.5(CPS1):c.1165-4C>T
|
rs768180035
|
0.00001
|
NM_001875.5(CPS1):c.1226T>C (p.Val409Ala)
|
rs370342489
|
0.00001
|
NM_001875.5(CPS1):c.1227C>A (p.Val409=)
|
rs1394034733
|
0.00001
|
NM_001875.5(CPS1):c.1245A>G (p.Leu415=)
|
rs1359323350
|
0.00001
|
NM_001875.5(CPS1):c.1278T>C (p.Leu426=)
|
rs756314968
|
0.00001
|
NM_001875.5(CPS1):c.1284A>C (p.Leu428=)
|
rs1574567824
|
0.00001
|
NM_001875.5(CPS1):c.1332A>G (p.Ser444=)
|
rs773724891
|
0.00001
|
NM_001875.5(CPS1):c.1362A>G (p.Glu454=)
|
rs367595511
|
0.00001
|
NM_001875.5(CPS1):c.1395C>T (p.Asn465=)
|
rs1263470631
|
0.00001
|
NM_001875.5(CPS1):c.1426T>C (p.Leu476=)
|
rs1445507619
|
0.00001
|
NM_001875.5(CPS1):c.1482G>A (p.Glu494=)
|
rs374857825
|
0.00001
|
NM_001875.5(CPS1):c.1488C>T (p.Ile496=)
|
rs1457449273
|
0.00001
|
NM_001875.5(CPS1):c.1558C>T (p.Leu520=)
|
rs1313193730
|
0.00001
|
NM_001875.5(CPS1):c.1578C>T (p.Leu526=)
|
rs763001072
|
0.00001
|
NM_001875.5(CPS1):c.1650T>C (p.Phe550=)
|
rs1354358473
|
0.00001
|
NM_001875.5(CPS1):c.1716T>C (p.Asp572=)
|
rs764231738
|
0.00001
|
NM_001875.5(CPS1):c.1767C>A (p.Ala589=)
|
rs1574577584
|
0.00001
|
NM_001875.5(CPS1):c.1773A>C (p.Ala591=)
|
rs746570258
|
0.00001
|
NM_001875.5(CPS1):c.1860T>C (p.Ile620=)
|
rs767658438
|
0.00001
|
NM_001875.5(CPS1):c.1902T>C (p.Tyr634=)
|
rs763877139
|
0.00001
|
NM_001875.5(CPS1):c.1977C>T (p.His659=)
|
rs774879922
|
0.00001
|
NM_001875.5(CPS1):c.1981+10G>A
|
rs773319112
|
0.00001
|
NM_001875.5(CPS1):c.1982-7T>C
|
rs1213843515
|
0.00001
|
NM_001875.5(CPS1):c.1982-9G>T
|
rs779387910
|
0.00001
|
NM_001875.5(CPS1):c.2061T>C (p.Val687=)
|
rs771497233
|
0.00001
|
NM_001875.5(CPS1):c.2106C>A (p.Ala702=)
|
rs533243282
|
0.00001
|
NM_001875.5(CPS1):c.2155C>T (p.Leu719=)
|
rs753381839
|
0.00001
|
NM_001875.5(CPS1):c.2161C>A (p.Arg721=)
|
rs202107577
|
0.00001
|
NM_001875.5(CPS1):c.2193-10C>A
|
rs767881510
|
0.00001
|
NM_001875.5(CPS1):c.2193-4A>G
|
rs750884552
|
0.00001
|
NM_001875.5(CPS1):c.2205A>G (p.Ala735=)
|
rs749436827
|
0.00001
|
NM_001875.5(CPS1):c.2259C>T (p.Val753=)
|
rs771293294
|
0.00001
|
NM_001875.5(CPS1):c.2322C>G (p.Pro774=)
|
rs1445208216
|
0.00001
|
NM_001875.5(CPS1):c.237-4C>A
|
rs777273892
|
0.00001
|
NM_001875.5(CPS1):c.2385A>G (p.Val795=)
|
rs768164187
|
0.00001
|
NM_001875.5(CPS1):c.2436T>G (p.Ala812=)
|
rs771710751
|
0.00001
|
NM_001875.5(CPS1):c.2454A>G (p.Pro818=)
|
rs765712117
|
0.00001
|
NM_001875.5(CPS1):c.2476C>T (p.Arg826Cys)
|
rs757451824
|
0.00001
|
NM_001875.5(CPS1):c.2502A>G (p.Pro834=)
|
rs1382587498
|
0.00001
|
NM_001875.5(CPS1):c.2547G>A (p.Thr849=)
|
rs371426184
|
0.00001
|
NM_001875.5(CPS1):c.2559C>G (p.Ala853=)
|
rs754665415
|
0.00001
|
NM_001875.5(CPS1):c.2568+8G>A
|
rs765027224
|
0.00001
|
NM_001875.5(CPS1):c.2577T>C (p.Asp859=)
|
rs1439343002
|
0.00001
|
NM_001875.5(CPS1):c.2589C>G (p.Ser863=)
|
rs139626513
|
0.00001
|
NM_001875.5(CPS1):c.2601T>C (p.Ile867=)
|
rs375325824
|
0.00001
|
NM_001875.5(CPS1):c.2652T>C (p.Ile884=)
|
rs372620072
|
0.00001
|
NM_001875.5(CPS1):c.2687+9G>A
|
rs377094467
|
0.00001
|
NM_001875.5(CPS1):c.2727G>A (p.Glu909=)
|
rs1373561767
|
0.00001
|
NM_001875.5(CPS1):c.2769C>T (p.Leu923=)
|
rs1244905393
|
0.00001
|
NM_001875.5(CPS1):c.2771C>G (p.Thr924Ser)
|
rs150463750
|
0.00001
|
NM_001875.5(CPS1):c.2829+7G>A
|
rs759086830
|
0.00001
|
NM_001875.5(CPS1):c.2829+8A>G
|
rs941366546
|
0.00001
|
NM_001875.5(CPS1):c.2830-9C>G
|
rs764400976
|
0.00001
|
NM_001875.5(CPS1):c.3036G>T (p.Val1012=)
|
rs750243323
|
0.00001
|
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=)
|
rs369030433
|
0.00001
|
NM_001875.5(CPS1):c.3204A>G (p.Leu1068=)
|
rs766909251
|
0.00001
|
NM_001875.5(CPS1):c.3282T>C (p.Ala1094=)
|
rs761077723
|
0.00001
|
NM_001875.5(CPS1):c.3286T>C (p.Leu1096=)
|
rs749825961
|
0.00001
|
NM_001875.5(CPS1):c.3303G>A (p.Val1101=)
|
rs774531676
|
0.00001
|
NM_001875.5(CPS1):c.330T>G (p.Thr110=)
|
rs777617670
|
0.00001
|
NM_001875.5(CPS1):c.3405-10C>T
|
rs1700521088
|
0.00001
|
NM_001875.5(CPS1):c.3405-19T>C
|
rs771189677
|
0.00001
|
NM_001875.5(CPS1):c.3483G>A (p.Glu1161=)
|
rs906879658
|
0.00001
|
NM_001875.5(CPS1):c.3555A>C (p.Gly1185=)
|
rs775829352
|
0.00001
|
NM_001875.5(CPS1):c.3558+7G>A
|
rs764456030
|
0.00001
|
NM_001875.5(CPS1):c.3559-9T>C
|
rs760610209
|
0.00001
|
NM_001875.5(CPS1):c.3576C>T (p.Ile1192=)
|
rs1204885910
|
0.00001
|
NM_001875.5(CPS1):c.3630G>A (p.Leu1210=)
|
rs778094703
|
0.00001
|
NM_001875.5(CPS1):c.3666+11A>G
|
rs759823112
|
0.00001
|
NM_001875.5(CPS1):c.3666+7A>G
|
rs776903581
|
0.00001
|
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln)
|
rs778117194
|
0.00001
|
NM_001875.5(CPS1):c.3723C>T (p.Asn1241=)
|
rs760598756
|
0.00001
|
NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr)
|
rs754433289
|
0.00001
|
NM_001875.5(CPS1):c.3753C>T (p.Val1251=)
|
rs758123016
|
0.00001
|
NM_001875.5(CPS1):c.3759G>A (p.Val1253=)
|
rs756701188
|
0.00001
|
NM_001875.5(CPS1):c.3772T>C (p.Leu1258=)
|
rs768630786
|
0.00001
|
NM_001875.5(CPS1):c.3795C>T (p.Pro1265=)
|
rs1438414940
|
0.00001
|
NM_001875.5(CPS1):c.382-10G>A
|
rs938645149
|
0.00001
|
NM_001875.5(CPS1):c.390T>A (p.Gly130=)
|
rs577598098
|
0.00001
|
NM_001875.5(CPS1):c.3950G>A (p.Arg1317Gln)
|
rs369682093
|
0.00001
|
NM_001875.5(CPS1):c.4003-6A>G
|
rs757472109
|
0.00001
|
NM_001875.5(CPS1):c.4059A>C (p.Thr1353=)
|
rs1400368646
|
0.00001
|
NM_001875.5(CPS1):c.4068G>A (p.Lys1356=)
|
rs1425920194
|
0.00001
|
NM_001875.5(CPS1):c.4074C>G (p.Pro1358=)
|
rs759838283
|
0.00001
|
NM_001875.5(CPS1):c.4074C>T (p.Pro1358=)
|
rs759838283
|
0.00001
|
NM_001875.5(CPS1):c.4098C>T (p.Ile1366=)
|
rs757362140
|
0.00001
|
NM_001875.5(CPS1):c.4101+10T>C
|
rs1701173335
|
0.00001
|
NM_001875.5(CPS1):c.4102-563G>A
|
rs207462825
|
0.00001
|
NM_001875.5(CPS1):c.4112G>A (p.Arg1371Gln)
|
rs765106604
|
0.00001
|
NM_001875.5(CPS1):c.4134T>G (p.Ala1378=)
|
rs746991241
|
0.00001
|
NM_001875.5(CPS1):c.4155T>C (p.Gly1385=)
|
rs1200099747
|
0.00001
|
NM_001875.5(CPS1):c.4194C>T (p.Leu1398=)
|
rs1300448311
|
0.00001
|
NM_001875.5(CPS1):c.4200C>T (p.Ala1400=)
|
rs150044077
|
0.00001
|
NM_001875.5(CPS1):c.4206T>C (p.Asn1402=)
|
rs1235300832
|
0.00001
|
NM_001875.5(CPS1):c.4233G>A (p.Pro1411=)
|
rs760775513
|
0.00001
|
NM_001875.5(CPS1):c.4300C>T (p.Leu1434=)
|
rs752311782
|
0.00001
|
NM_001875.5(CPS1):c.4350T>C (p.Tyr1450=)
|
rs771831155
|
0.00001
|
NM_001875.5(CPS1):c.4389C>A (p.Leu1463=)
|
rs1433915902
|
0.00001
|
NM_001875.5(CPS1):c.4410C>T (p.Thr1470=)
|
rs138590011
|
0.00001
|
NM_001875.5(CPS1):c.4416T>G (p.Leu1472=)
|
rs1701583781
|
0.00001
|
NM_001875.5(CPS1):c.471+14T>C
|
rs914408029
|
0.00001
|
NM_001875.5(CPS1):c.474T>C (p.Val158=)
|
rs1697846903
|
0.00001
|
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser)
|
rs868808195
|
0.00001
|
NM_001875.5(CPS1):c.529-7T>C
|
rs1386014914
|
0.00001
|
NM_001875.5(CPS1):c.690T>C (p.Asn230=)
|
rs762276786
|
0.00001
|
NM_001875.5(CPS1):c.69G>A (p.Val23=)
|
rs1696927192
|
0.00001
|
NM_001875.5(CPS1):c.711+7A>C
|
rs756703955
|
0.00001
|
NM_001875.5(CPS1):c.712-10T>G
|
rs767866028
|
0.00001
|
NM_001875.5(CPS1):c.726G>A (p.Val242=)
|
rs765377334
|
0.00001
|
NM_001875.5(CPS1):c.765G>A (p.Glu255=)
|
rs748743178
|
0.00001
|
NM_001875.5(CPS1):c.795G>A (p.Pro265=)
|
rs1174421173
|
0.00001
|
NM_001875.5(CPS1):c.831T>C (p.Asn277=)
|
rs1218356698
|
0.00001
|
NM_001875.5(CPS1):c.837A>G (p.Arg279=)
|
rs1211571555
|
0.00001
|
NM_001875.5(CPS1):c.841-7G>A
|
rs754897201
|
0.00001
|
NM_001875.5(CPS1):c.867A>G (p.Pro289=)
|
rs1441290967
|
0.00001
|
NM_001875.5(CPS1):c.996T>C (p.Ile332=)
|
rs754231161
|
0.00001
|
NM_001875.4(CPS1):c.1030_1032delinsGCT (p.Thr344Ala)
|
rs386654705
|
|
NM_001875.5(CPS1):c.-4_-3insTTC
|
rs61509952
|
|
NM_001875.5(CPS1):c.1014C>G (p.Gly338=)
|
|
|
NM_001875.5(CPS1):c.1020C>T (p.Ala340=)
|
rs1398138189
|
|
NM_001875.5(CPS1):c.1038T>G (p.Pro346=)
|
rs2106111216
|
|
NM_001875.5(CPS1):c.1044C>T (p.Gly348=)
|
|
|
NM_001875.5(CPS1):c.105C>A (p.Gly35=)
|
|
|
NM_001875.5(CPS1):c.1065T>C (p.Asn355=)
|
rs1698317663
|
|
NM_001875.5(CPS1):c.1086+14A>G
|
|
|
NM_001875.5(CPS1):c.1086+17A>G
|
|
|
NM_001875.5(CPS1):c.1086+18A>G
|
|
|
NM_001875.5(CPS1):c.1086+19C>A
|
|
|
NM_001875.5(CPS1):c.1086+9T>C
|
rs2106111329
|
|
NM_001875.5(CPS1):c.1087-12T>C
|
|
|
NM_001875.5(CPS1):c.1087-16T>C
|
|
|
NM_001875.5(CPS1):c.1087-20C>T
|
|
|
NM_001875.5(CPS1):c.1087-9T>C
|
rs2106113002
|
|
NM_001875.5(CPS1):c.108C>T (p.Ile36=)
|
|
|
NM_001875.5(CPS1):c.1098T>C (p.His366=)
|
rs1363275376
|
|
NM_001875.5(CPS1):c.1101G>A (p.Glu367=)
|
rs975444103
|
|
NM_001875.5(CPS1):c.1110C>T (p.Pro370=)
|
|
|
NM_001875.5(CPS1):c.1122G>T (p.Val374=)
|
|
|
NM_001875.5(CPS1):c.1140C>A (p.Val380=)
|
|
|
NM_001875.5(CPS1):c.1146G>T (p.Pro382=)
|
|
|
NM_001875.5(CPS1):c.114C>T (p.Leu38=)
|
|
|
NM_001875.5(CPS1):c.1153A>G (p.Ile385Val)
|
|
|
NM_001875.5(CPS1):c.1155A>C (p.Ile385=)
|
rs2106113282
|
|
NM_001875.5(CPS1):c.1161T>A (p.Thr387=)
|
|
|
NM_001875.5(CPS1):c.1161T>C (p.Thr387=)
|
|
|
NM_001875.5(CPS1):c.1164+13G>C
|
|
|
NM_001875.5(CPS1):c.1164+16G>C
|
|
|
NM_001875.5(CPS1):c.1164+20C>A
|
|
|
NM_001875.5(CPS1):c.1164+9A>G
|
|
|
NM_001875.5(CPS1):c.1165-10T>C
|
rs1698417211
|
|
NM_001875.5(CPS1):c.1165-13T>A
|
|
|
NM_001875.5(CPS1):c.1165-13T>C
|
|
|
NM_001875.5(CPS1):c.1165-16T>C
|
|
|
NM_001875.5(CPS1):c.1165-17G>A
|
rs2106116257
|
|
NM_001875.5(CPS1):c.1165-18G>A
|
|
|
NM_001875.5(CPS1):c.1165-6T>C
|
|
|
NM_001875.5(CPS1):c.1170G>C (p.Leu390=)
|
rs2106116338
|
|
NM_001875.5(CPS1):c.1189C>T (p.Leu397=)
|
|
|
NM_001875.5(CPS1):c.1209T>A (p.Ala403=)
|
rs2106116420
|
|
NM_001875.5(CPS1):c.1233G>A (p.Pro411=)
|
|
|
NM_001875.5(CPS1):c.1233G>T (p.Pro411=)
|
|
|
NM_001875.5(CPS1):c.1242A>C (p.Ala414=)
|
rs748923975
|
|
NM_001875.5(CPS1):c.1242A>G (p.Ala414=)
|
|
|
NM_001875.5(CPS1):c.1251A>G (p.Ala417=)
|
|
|
NM_001875.5(CPS1):c.126+10A>G
|
|
|
NM_001875.5(CPS1):c.126+12A>G
|
|
|
NM_001875.5(CPS1):c.126+13T>C
|
|
|
NM_001875.5(CPS1):c.126+16A>G
|
|
|
NM_001875.5(CPS1):c.126+17T>C
|
|
|
NM_001875.5(CPS1):c.126+19G>T
|
|
|
NM_001875.5(CPS1):c.126+7C>T
|
|
|
NM_001875.5(CPS1):c.1263+12G>C
|
|
|
NM_001875.5(CPS1):c.1263+13del
|
|
|
NM_001875.5(CPS1):c.1263+14C>G
|
|
|
NM_001875.5(CPS1):c.1263+17A>T
|
|
|
NM_001875.5(CPS1):c.1263+8T>A
|
|
|
NM_001875.5(CPS1):c.1263+8TG[4]
|
rs1553511697
|
|
NM_001875.5(CPS1):c.1264-10T>C
|
rs2106118113
|
|
NM_001875.5(CPS1):c.1264-15T>C
|
|
|
NM_001875.5(CPS1):c.1264-17T>C
|
|
|
NM_001875.5(CPS1):c.1264-19T>C
|
|
|
NM_001875.5(CPS1):c.1264-4A>G
|
|
|
NM_001875.5(CPS1):c.1264-6T>G
|
|
|
NM_001875.5(CPS1):c.127-13A>C
|
rs1553508991
|
|
NM_001875.5(CPS1):c.127-16G>T
|
|
|
NM_001875.5(CPS1):c.127-17T>C
|
|
|
NM_001875.5(CPS1):c.127-6C>G
|
|
|
NM_001875.5(CPS1):c.127-6C>T
|
|
|
NM_001875.5(CPS1):c.127-7T>C
|
rs2106073173
|
|
NM_001875.5(CPS1):c.1272A>G (p.Lys424=)
|
|
|
NM_001875.5(CPS1):c.1282C>T (p.Leu428=)
|
rs1574567820
|
|
NM_001875.5(CPS1):c.1302C>A (p.Ser434=)
|
|
|
NM_001875.5(CPS1):c.1344T>C (p.Ala448=)
|
rs2106118315
|
|
NM_001875.5(CPS1):c.1347A>C (p.Val449=)
|
rs1298255125
|
|
NM_001875.5(CPS1):c.1347A>G (p.Val449=)
|
rs1298255125
|
|
NM_001875.5(CPS1):c.1359+17C>G
|
|
|
NM_001875.5(CPS1):c.1359+7G>C
|
|
|
NM_001875.5(CPS1):c.1359+8A>G
|
|
|
NM_001875.5(CPS1):c.1359+9A>G
|
|
|
NM_001875.5(CPS1):c.135A>G (p.Thr45=)
|
|
|
NM_001875.5(CPS1):c.1360-11G>A
|
|
|
NM_001875.5(CPS1):c.1360-11G>C
|
|
|
NM_001875.5(CPS1):c.1360-16C>A
|
|
|
NM_001875.5(CPS1):c.1360-17T>C
|
|
|
NM_001875.5(CPS1):c.1360-7_1360-6del
|
|
|
NM_001875.5(CPS1):c.1360-8T>C
|
|
|
NM_001875.5(CPS1):c.1371C>G (p.Val457=)
|
rs1698623665
|
|
NM_001875.5(CPS1):c.1381C>T (p.Leu461=)
|
|
|
NM_001875.5(CPS1):c.1383G>A (p.Leu461=)
|
|
|
NM_001875.5(CPS1):c.138A>G (p.Ala46=)
|
|
|
NM_001875.5(CPS1):c.1398T>C (p.Ile466=)
|
|
|
NM_001875.5(CPS1):c.1401A>T (p.Ala467=)
|
rs769809767
|
|
NM_001875.5(CPS1):c.1404A>C (p.Ser468=)
|
rs1574573024
|
|
NM_001875.5(CPS1):c.1407C>G (p.Val469=)
|
rs1574573037
|
|
NM_001875.5(CPS1):c.1413C>T (p.Thr471=)
|
|
|
NM_001875.5(CPS1):c.141C>T (p.His47=)
|
rs2106073214
|
|
NM_001875.5(CPS1):c.1431G>A (p.Lys477=)
|
|
|
NM_001875.5(CPS1):c.1440T>C (p.Asp480=)
|
|
|
NM_001875.5(CPS1):c.1446C>G (p.Val482=)
|
rs1427789805
|
|
NM_001875.5(CPS1):c.1446C>T (p.Val482=)
|
rs1427789805
|
|
NM_001875.5(CPS1):c.144T>C (p.Ile48=)
|
|
|
NM_001875.5(CPS1):c.1452T>C (p.Phe484=)
|
rs1698629346
|
|
NM_001875.5(CPS1):c.1458C>A (p.Pro486=)
|
rs758089312
|
|
NM_001875.5(CPS1):c.1473T>C (p.Phe491=)
|
rs2106126359
|
|
NM_001875.5(CPS1):c.147C>G (p.Val49=)
|
rs1574540092
|
|
NM_001875.5(CPS1):c.147C>T (p.Val49=)
|
|
|
NM_001875.5(CPS1):c.1491G>A (p.Lys497=)
|
|
|
NM_001875.5(CPS1):c.1509G>T (p.Gly503=)
|
|
|
NM_001875.5(CPS1):c.1530C>A (p.Gly510=)
|
|
|
NM_001875.5(CPS1):c.1536A>G (p.Thr512=)
|
|
|
NM_001875.5(CPS1):c.1540C>T (p.Leu514=)
|
rs890185470
|
|
NM_001875.5(CPS1):c.1549+11A>C
|
|
|
NM_001875.5(CPS1):c.1550-12G>A
|
|
|
NM_001875.5(CPS1):c.1550-12G>C
|
|
|
NM_001875.5(CPS1):c.1550-12G>T
|
|
|
NM_001875.5(CPS1):c.1550-15T>C
|
|
|
NM_001875.5(CPS1):c.1550-16T>C
|
|
|
NM_001875.5(CPS1):c.1550-20C>T
|
|
|
NM_001875.5(CPS1):c.1550-4T>C
|
|
|
NM_001875.5(CPS1):c.1550-5T>G
|
|
|
NM_001875.5(CPS1):c.1550-6C>G
|
|
|
NM_001875.5(CPS1):c.1550-9C>T
|
rs768654576
|
|
NM_001875.5(CPS1):c.1551A>C (p.Gly517=)
|
|
|
NM_001875.5(CPS1):c.1587T>C (p.Tyr529=)
|
|
|
NM_001875.5(CPS1):c.1623T>C (p.Ile541=)
|
rs1698686885
|
|
NM_001875.5(CPS1):c.1638C>T (p.Asp546=)
|
rs1326614424
|
|
NM_001875.5(CPS1):c.1647G>A (p.Leu549=)
|
|
|
NM_001875.5(CPS1):c.1660C>T (p.Leu554=)
|
|
|
NM_001875.5(CPS1):c.1665T>C (p.Asn555=)
|
rs745650408
|
|
NM_001875.5(CPS1):c.1683T>C (p.Ile561=)
|
|
|
NM_001875.5(CPS1):c.1686T>C (p.Ala562=)
|
rs1574575327
|
|
NM_001875.5(CPS1):c.1689A>C (p.Pro563=)
|
|
|
NM_001875.5(CPS1):c.1689A>T (p.Pro563=)
|
rs768681752
|
|
NM_001875.5(CPS1):c.1698A>G (p.Ala566=)
|
rs2105840611
|
|
NM_001875.5(CPS1):c.1699G>C (p.Val567Leu)
|
|
|
NM_001875.5(CPS1):c.1707+11T>C
|
|
|
NM_001875.5(CPS1):c.1707+20G>A
|
|
|
NM_001875.5(CPS1):c.1708-16T>C
|
|
|
NM_001875.5(CPS1):c.1708-5G>C
|
rs571670790
|
|
NM_001875.5(CPS1):c.1708-6T>C
|
|
|
NM_001875.5(CPS1):c.1708-7T>C
|
|
|
NM_001875.5(CPS1):c.1720C>T (p.Leu574=)
|
|
|
NM_001875.5(CPS1):c.1722G>A (p.Leu574=)
|
|
|
NM_001875.5(CPS1):c.1737C>A (p.Thr579=)
|
|
|
NM_001875.5(CPS1):c.1737C>T (p.Thr579=)
|
|
|
NM_001875.5(CPS1):c.174T>C (p.Gly58=)
|
|
|
NM_001875.5(CPS1):c.1764C>A (p.Ser588=)
|
rs374071271
|
|
NM_001875.5(CPS1):c.1770T>C (p.Tyr590=)
|
|
|
NM_001875.5(CPS1):c.1773A>G (p.Ala591=)
|
|
|
NM_001875.5(CPS1):c.177C>T (p.Tyr59=)
|
rs1390730716
|
|
NM_001875.5(CPS1):c.1782G>T (p.Gly594=)
|
rs200968000
|
|
NM_001875.5(CPS1):c.1791A>G (p.Ser597=)
|
|
|
NM_001875.5(CPS1):c.17C>T (p.Thr6Ile)
|
|
|
NM_001875.5(CPS1):c.1803C>G (p.Pro601=)
|
rs2105843106
|
|
NM_001875.5(CPS1):c.1809A>G (p.Arg603=)
|
|
|
NM_001875.5(CPS1):c.1815T>A (p.Thr605=)
|
rs1698755276
|
|
NM_001875.5(CPS1):c.1815T>C (p.Thr605=)
|
|
|
NM_001875.5(CPS1):c.1815T>G (p.Thr605=)
|
rs1698755276
|
|
NM_001875.5(CPS1):c.1816T>C (p.Leu606=)
|
rs1355862440
|
|
NM_001875.5(CPS1):c.1827C>T (p.Leu609=)
|
rs1574577723
|
|
NM_001875.5(CPS1):c.1830C>T (p.Ser610=)
|
rs2105843159
|
|
NM_001875.5(CPS1):c.1836+11T>C
|
|
|
NM_001875.5(CPS1):c.1836+13G>A
|
rs1239037348
|
|
NM_001875.5(CPS1):c.1836+14T>A
|
rs2105843197
|
|
NM_001875.5(CPS1):c.1836+16G>C
|
|
|
NM_001875.5(CPS1):c.1836+8T>G
|
|
|
NM_001875.5(CPS1):c.1837-13C>T
|
|
|
NM_001875.5(CPS1):c.1837-14T>C
|
|
|
NM_001875.5(CPS1):c.1837-20C>A
|
|
|
NM_001875.5(CPS1):c.1837-4C>A
|
rs2105847166
|
|
NM_001875.5(CPS1):c.1837-9A>G
|
|
|
NM_001875.5(CPS1):c.1839C>T (p.Ala613=)
|
|
|
NM_001875.5(CPS1):c.1854C>T (p.Asn618=)
|
rs1329765894
|
|
NM_001875.5(CPS1):c.186C>A (p.Gly62=)
|
|
|
NM_001875.5(CPS1):c.1875A>C (p.Ser625=)
|
rs1698860002
|
|
NM_001875.5(CPS1):c.1881A>G (p.Thr627=)
|
|
|
NM_001875.5(CPS1):c.1893A>G (p.Glu631=)
|
rs2105847319
|
|
NM_001875.5(CPS1):c.1899A>G (p.Glu633=)
|
|
|
NM_001875.5(CPS1):c.18A>G (p.Thr6=)
|
|
|
NM_001875.5(CPS1):c.1908G>T (p.Val636=)
|
|
|
NM_001875.5(CPS1):c.1923T>C (p.Asp641=)
|
rs149489502
|
|
NM_001875.5(CPS1):c.1926C>T (p.Asp642=)
|
rs1574581538
|
|
NM_001875.5(CPS1):c.192A>G (p.Pro64=)
|
|
|
NM_001875.5(CPS1):c.1947C>T (p.Asn649=)
|
|
|
NM_001875.5(CPS1):c.1959T>C (p.Val653=)
|
rs1698865843
|
|
NM_001875.5(CPS1):c.1962T>C (p.Asp654=)
|
|
|
NM_001875.5(CPS1):c.1965C>T (p.Ala655=)
|
rs2105847501
|
|
NM_001875.5(CPS1):c.1981+12A>G
|
|
|
NM_001875.5(CPS1):c.1981+14C>T
|
|
|
NM_001875.5(CPS1):c.1981+20G>C
|
|
|
NM_001875.5(CPS1):c.1981+7A>C
|
rs185758505
|
|
NM_001875.5(CPS1):c.1981+7A>G
|
rs185758505
|
|
NM_001875.5(CPS1):c.1981+9A>T
|
rs2105847580
|
|
NM_001875.5(CPS1):c.1982-10G>T
|
rs2105849819
|
|
NM_001875.5(CPS1):c.1982-12T>C
|
|
|
NM_001875.5(CPS1):c.1982-16C>T
|
|
|
NM_001875.5(CPS1):c.1982-18T>C
|
|
|
NM_001875.5(CPS1):c.1982-19G>C
|
|
|
NM_001875.5(CPS1):c.1982-4A>G
|
|
|
NM_001875.5(CPS1):c.1982-8A>T
|
rs563304664
|
|
NM_001875.5(CPS1):c.1992T>G (p.Val664=)
|
|
|
NM_001875.5(CPS1):c.1995T>C (p.Val665=)
|
rs770854846
|
|
NM_001875.5(CPS1):c.2007C>A (p.Ala669=)
|
rs2105849900
|
|
NM_001875.5(CPS1):c.2013A>G (p.Thr671=)
|
|
|
NM_001875.5(CPS1):c.2016C>G (p.Leu672=)
|
|
|
NM_001875.5(CPS1):c.2028G>A (p.Glu676=)
|
|
|
NM_001875.5(CPS1):c.2040G>A (p.Leu680=)
|
|
|
NM_001875.5(CPS1):c.2045G>A (p.Arg682His)
|
|
|
NM_001875.5(CPS1):c.2052A>T (p.Ser684=)
|
|
|
NM_001875.5(CPS1):c.2058T>C (p.Asn686=)
|
|
|
NM_001875.5(CPS1):c.2064T>C (p.Val688=)
|
rs2105850060
|
|
NM_001875.5(CPS1):c.2064T>G (p.Val688=)
|
rs2105850060
|
|
NM_001875.5(CPS1):c.2100G>A (p.Gln700=)
|
rs1698931117
|
|
NM_001875.5(CPS1):c.2103T>C (p.Phe701=)
|
rs1361109371
|
|
NM_001875.5(CPS1):c.2109T>G (p.Leu703=)
|
|
|
NM_001875.5(CPS1):c.2114C>G (p.Pro705Arg)
|
|
|
NM_001875.5(CPS1):c.2118C>T (p.Thr706=)
|
|
|
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu)
|
rs551261693
|
|
NM_001875.5(CPS1):c.2181A>C (p.Ser727=)
|
|
|
NM_001875.5(CPS1):c.2184A>G (p.Lys728=)
|
rs1574584352
|
|
NM_001875.5(CPS1):c.2187C>T (p.Ala729=)
|
rs2105850303
|
|
NM_001875.5(CPS1):c.2190T>C (p.Thr730=)
|
|
|
NM_001875.5(CPS1):c.2192+10G>C
|
rs2105850342
|
|
NM_001875.5(CPS1):c.2192+11A>G
|
|
|
NM_001875.5(CPS1):c.2192+7C>T
|
|
|
NM_001875.5(CPS1):c.2192+8C>G
|
|
|
NM_001875.5(CPS1):c.2192+9A>G
|
|
|
NM_001875.5(CPS1):c.2193-13C>G
|
|
|
NM_001875.5(CPS1):c.2193-14T>A
|
rs569836557
|
|
NM_001875.5(CPS1):c.2193-14T>C
|
|
|
NM_001875.5(CPS1):c.2193-16T>C
|
|
|
NM_001875.5(CPS1):c.2193-17T>C
|
|
|
NM_001875.5(CPS1):c.2193-18T>C
|
|
|
NM_001875.5(CPS1):c.2193-5T>C
|
|
|
NM_001875.5(CPS1):c.2193-6T>G
|
|
|
NM_001875.5(CPS1):c.2196C>T (p.Tyr732=)
|
|
|
NM_001875.5(CPS1):c.2199A>G (p.Pro733=)
|
rs780079490
|
|
NM_001875.5(CPS1):c.2200T>C (p.Leu734=)
|
rs1297131870
|
|
NM_001875.5(CPS1):c.2205A>T (p.Ala735=)
|
|
|
NM_001875.5(CPS1):c.2208C>T (p.Phe736=)
|
|
|
NM_001875.5(CPS1):c.2217A>C (p.Ala739=)
|
|
|
NM_001875.5(CPS1):c.2217A>G (p.Ala739=)
|
rs1698996365
|
|
NM_001875.5(CPS1):c.2226C>T (p.Ala742=)
|
|
|
NM_001875.5(CPS1):c.2244A>G (p.Pro748=)
|
|
|
NM_001875.5(CPS1):c.2262A>G (p.Val754=)
|
|
|
NM_001875.5(CPS1):c.2265C>T (p.Ser755=)
|
rs41272667
|
|
NM_001875.5(CPS1):c.2271G>A (p.Lys757=)
|
rs2105852726
|
|
NM_001875.5(CPS1):c.2274A>G (p.Thr758=)
|
|
|
NM_001875.5(CPS1):c.2277A>G (p.Ser759=)
|
rs2105852746
|
|
NM_001875.5(CPS1):c.228C>G (p.Gly76=)
|
rs1450875442
|
|
NM_001875.5(CPS1):c.2301T>C (p.Asp767=)
|
rs2105852796
|
|
NM_001875.5(CPS1):c.2316G>A (p.Lys772=)
|
rs1574586633
|
|
NM_001875.5(CPS1):c.2322C>A (p.Pro774=)
|
rs1445208216
|
|
NM_001875.5(CPS1):c.2334T>C (p.Leu778=)
|
rs2105852851
|
|
NM_001875.5(CPS1):c.2334T>G (p.Leu778=)
|
rs2105852851
|
|
NM_001875.5(CPS1):c.2337C>T (p.Asp779=)
|
|
|
NM_001875.5(CPS1):c.2358C>T (p.Ser786=)
|
rs1699003909
|
|
NM_001875.5(CPS1):c.236+18A>G
|
|
|
NM_001875.5(CPS1):c.2361A>G (p.Arg787=)
|
|
|
NM_001875.5(CPS1):c.237-12A>G
|
|
|
NM_001875.5(CPS1):c.237-14G>A
|
|
|
NM_001875.5(CPS1):c.237-4C>T
|
rs777273892
|
|
NM_001875.5(CPS1):c.237G>A (p.Gly79=)
|
rs770681923
|
|
NM_001875.5(CPS1):c.2382T>C (p.Ser794=)
|
|
|
NM_001875.5(CPS1):c.2391+10del
|
|
|
NM_001875.5(CPS1):c.2391+11G>A
|
|
|
NM_001875.5(CPS1):c.2391+11G>T
|
|
|
NM_001875.5(CPS1):c.2391+12G>A
|
|
|
NM_001875.5(CPS1):c.2391+12G>C
|
|
|
NM_001875.5(CPS1):c.2391+12_2391+21del
|
|
|
NM_001875.5(CPS1):c.2391+17T>C
|
|
|
NM_001875.5(CPS1):c.2391+18T>C
|
|
|
NM_001875.5(CPS1):c.2392-11A>G
|
|
|
NM_001875.5(CPS1):c.2392-17T>C
|
|
|
NM_001875.5(CPS1):c.2392-19T>G
|
|
|
NM_001875.5(CPS1):c.2392-20G>A
|
|
|
NM_001875.5(CPS1):c.2403T>C (p.Ile801=)
|
rs2105858988
|
|
NM_001875.5(CPS1):c.2412C>T (p.Thr804=)
|
rs2105859014
|
|
NM_001875.5(CPS1):c.2415T>C (p.Phe805=)
|
rs1553513861
|
|
NM_001875.5(CPS1):c.243A>C (p.Pro81=)
|
|
|
NM_001875.5(CPS1):c.243A>G (p.Pro81=)
|
rs2106079420
|
|
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu)
|
|
|
NM_001875.5(CPS1):c.2463A>G (p.Glu821=)
|
|
|
NM_001875.5(CPS1):c.2469C>T (p.Phe823=)
|
rs1264691798
|
|
NM_001875.5(CPS1):c.2475C>T (p.Pro825=)
|
rs751784059
|
|
NM_001875.5(CPS1):c.2477G>A (p.Arg826His)
|
|
|
NM_001875.5(CPS1):c.2481C>T (p.Leu827=)
|
rs1699152712
|
|
NM_001875.5(CPS1):c.2512G>A (p.Asp838Asn)
|
|
|
NM_001875.5(CPS1):c.2520A>G (p.Arg840=)
|
|
|
NM_001875.5(CPS1):c.2526G>A (p.Glu842=)
|
|
|
NM_001875.5(CPS1):c.2532T>G (p.Ser844=)
|
|
|
NM_001875.5(CPS1):c.2546C>T (p.Thr849Met)
|
|
|
NM_001875.5(CPS1):c.2553C>A (p.Ile851=)
|
|
|
NM_001875.5(CPS1):c.2553C>G (p.Ile851Met)
|
|
|
NM_001875.5(CPS1):c.2556T>C (p.Tyr852=)
|
|
|
NM_001875.5(CPS1):c.255T>C (p.Thr85=)
|
rs2106079439
|
|
NM_001875.5(CPS1):c.2568+18G>C
|
|
|
NM_001875.5(CPS1):c.2568+21del
|
|
|
NM_001875.5(CPS1):c.2569-10C>T
|
|
|
NM_001875.5(CPS1):c.2569-18C>A
|
|
|
NM_001875.5(CPS1):c.2569-18C>G
|
|
|
NM_001875.5(CPS1):c.2569-20A>G
|
|
|
NM_001875.5(CPS1):c.2569-4G>A
|
rs2105865945
|
|
NM_001875.5(CPS1):c.2569-6T>G
|
rs2105865940
|
|
NM_001875.5(CPS1):c.2569-7T>C
|
|
|
NM_001875.5(CPS1):c.2596G>A (p.Glu866Lys)
|
|
|
NM_001875.5(CPS1):c.2607G>A (p.Lys869=)
|
|
|
NM_001875.5(CPS1):c.2613A>G (p.Thr871=)
|
|
|
NM_001875.5(CPS1):c.2616C>T (p.Tyr872=)
|
rs1699309581
|
|
NM_001875.5(CPS1):c.261T>A (p.Pro87=)
|
|
|
NM_001875.5(CPS1):c.261T>C (p.Pro87=)
|
|
|
NM_001875.5(CPS1):c.2625G>A (p.Lys875=)
|
|
|
NM_001875.5(CPS1):c.2640G>A (p.Lys880=)
|
|
|
NM_001875.5(CPS1):c.2645G>A (p.Arg882His)
|
|
|
NM_001875.5(CPS1):c.264C>T (p.Ala88=)
|
|
|
NM_001875.5(CPS1):c.2678G>T (p.Gly893Val)
|
|
|
NM_001875.5(CPS1):c.2687+10T>C
|
|
|
NM_001875.5(CPS1):c.2687+11G>A
|
|
|
NM_001875.5(CPS1):c.2687+14G>A
|
|
|
NM_001875.5(CPS1):c.2687+16T>G
|
|
|
NM_001875.5(CPS1):c.2687+17C>T
|
|
|
NM_001875.5(CPS1):c.2687+19C>A
|
|
|
NM_001875.5(CPS1):c.2687+20A>C
|
|
|
NM_001875.5(CPS1):c.2687+7C>T
|
|
|
NM_001875.5(CPS1):c.2687+9G>C
|
rs377094467
|
|
NM_001875.5(CPS1):c.2688-11T>C
|
|
|
NM_001875.5(CPS1):c.2688-12A>G
|
rs376699772
|
|
NM_001875.5(CPS1):c.2688-16T>C
|
rs2105895298
|
|
NM_001875.5(CPS1):c.2688-5C>T
|
rs1700078975
|
|
NM_001875.5(CPS1):c.2688-6T>C
|
rs2105895311
|
|
NM_001875.5(CPS1):c.2691G>A (p.Glu897=)
|
|
|
NM_001875.5(CPS1):c.2695A>G (p.Met899Val)
|
|
|
NM_001875.5(CPS1):c.2709C>A (p.Thr903=)
|
rs774243804
|
|
NM_001875.5(CPS1):c.2736C>T (p.Phe912=)
|
|
|
NM_001875.5(CPS1):c.273A>G (p.Gly91=)
|
|
|
NM_001875.5(CPS1):c.2748G>A (p.Gln916=)
|
rs758815468
|
|
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile)
|
rs150463750
|
|
NM_001875.5(CPS1):c.2784A>G (p.Thr928=)
|
|
|
NM_001875.5(CPS1):c.2796G>A (p.Arg932=)
|
rs2105895536
|
|
NM_001875.5(CPS1):c.27A>G (p.Lys9=)
|
|
|
NM_001875.5(CPS1):c.2808C>T (p.Asn936=)
|
|
|
NM_001875.5(CPS1):c.2817T>C (p.Pro939=)
|
|
|
NM_001875.5(CPS1):c.2829+14C>G
|
|
|
NM_001875.5(CPS1):c.2829+15C>T
|
|
|
NM_001875.5(CPS1):c.2829+8A>T
|
|
|
NM_001875.5(CPS1):c.2830-14G>A
|
|
|
NM_001875.5(CPS1):c.2830-14G>C
|
|
|
NM_001875.5(CPS1):c.2830-19T>C
|
rs1553516321
|
|
NM_001875.5(CPS1):c.2830-20T>G
|
|
|
NM_001875.5(CPS1):c.2830-5T>A
|
rs2105897309
|
|
NM_001875.5(CPS1):c.2835T>C (p.Asp945=)
|
|
|
NM_001875.5(CPS1):c.2838A>T (p.Thr946=)
|
|
|
NM_001875.5(CPS1):c.2839C>T (p.Leu947=)
|
rs1275836824
|
|
NM_001875.5(CPS1):c.2856A>G (p.Pro952=)
|
|
|
NM_001875.5(CPS1):c.2868C>T (p.Asn956=)
|
|
|
NM_001875.5(CPS1):c.2871T>C (p.Tyr957=)
|
|
|
NM_001875.5(CPS1):c.2877T>C (p.Tyr959=)
|
|
|
NM_001875.5(CPS1):c.2895+11G>C
|
|
|
NM_001875.5(CPS1):c.2895+16T>G
|
|
|
NM_001875.5(CPS1):c.2895+20C>A
|
|
|
NM_001875.5(CPS1):c.2895+20C>T
|
|
|
NM_001875.5(CPS1):c.2896-12T>C
|
|
|
NM_001875.5(CPS1):c.2896-9T>C
|
|
|
NM_001875.5(CPS1):c.2908A>G (p.Asn970Asp)
|
|
|
NM_001875.5(CPS1):c.2922T>C (p.His974=)
|
rs2105898789
|
|
NM_001875.5(CPS1):c.2925A>G (p.Gly975=)
|
|
|
NM_001875.5(CPS1):c.2934G>T (p.Val978=)
|
rs2105898803
|
|
NM_001875.5(CPS1):c.2940C>T (p.Gly980=)
|
rs752969364
|
|
NM_001875.5(CPS1):c.2946T>A (p.Gly982=)
|
rs2105898820
|
|
NM_001875.5(CPS1):c.2952T>C (p.Tyr984=)
|
|
|
NM_001875.5(CPS1):c.2959+14T>A
|
|
|
NM_001875.5(CPS1):c.2959+16A>T
|
|
|
NM_001875.5(CPS1):c.2959+19T>G
|
|
|
NM_001875.5(CPS1):c.2959+8_2959+14del
|
rs765645129
|
|
NM_001875.5(CPS1):c.2959+9A>G
|
rs1250053139
|
|
NM_001875.5(CPS1):c.2959+9A>T
|
rs1250053139
|
|
NM_001875.5(CPS1):c.2960-10G>A
|
rs2105901496
|
|
NM_001875.5(CPS1):c.2960-13A>C
|
|
|
NM_001875.5(CPS1):c.2960-20C>T
|
|
|
NM_001875.5(CPS1):c.2960-9T>C
|
|
|
NM_001875.5(CPS1):c.2970G>A (p.Val990=)
|
rs1700256865
|
|
NM_001875.5(CPS1):c.2973A>G (p.Glu991=)
|
|
|
NM_001875.5(CPS1):c.297T>G (p.Pro99=)
|
|
|
NM_001875.5(CPS1):c.2991C>G (p.Val997=)
|
|
|
NM_001875.5(CPS1):c.2994T>G (p.Ser998=)
|
rs1574632330
|
|
NM_001875.5(CPS1):c.2997T>C (p.Ser999=)
|
rs766849843
|
|
NM_001875.5(CPS1):c.3000C>A (p.Ile1000=)
|
rs1700258062
|
|
NM_001875.5(CPS1):c.3007C>T (p.Leu1003=)
|
rs1700258434
|
|
NM_001875.5(CPS1):c.3015A>G (p.Gln1005=)
|
|
|
NM_001875.5(CPS1):c.3025A>C (p.Lys1009Gln)
|
|
|
NM_001875.5(CPS1):c.3030G>C (p.Thr1010=)
|
|
|
NM_001875.5(CPS1):c.3036G>A (p.Val1012=)
|
|
|
NM_001875.5(CPS1):c.3042T>C (p.Asn1014=)
|
rs2105901623
|
|
NM_001875.5(CPS1):c.3045C>T (p.Cys1015=)
|
rs376618188
|
|
NM_001875.5(CPS1):c.3057T>A (p.Thr1019=)
|
rs150601728
|
|
NM_001875.5(CPS1):c.3075T>C (p.Asp1025=)
|
|
|
NM_001875.5(CPS1):c.3084C>T (p.Asp1028=)
|
|
|
NM_001875.5(CPS1):c.3088C>T (p.Leu1030=)
|
rs2105901680
|
|
NM_001875.5(CPS1):c.3096T>C (p.Phe1032=)
|
rs2105901699
|
|
NM_001875.5(CPS1):c.3114G>A (p.Glu1038=)
|
rs2105901711
|
|
NM_001875.5(CPS1):c.3120C>T (p.Ile1040=)
|
|
|
NM_001875.5(CPS1):c.3126C>T (p.Asp1042=)
|
rs1358993534
|
|
NM_001875.5(CPS1):c.3141+10G>C
|
|
|
NM_001875.5(CPS1):c.3141+15_3141+16insG
|
|
|
NM_001875.5(CPS1):c.3141+16del
|
|
|
NM_001875.5(CPS1):c.3141+17A>T
|
|
|
NM_001875.5(CPS1):c.3141+18G>A
|
|
|
NM_001875.5(CPS1):c.3142-17G>T
|
|
|
NM_001875.5(CPS1):c.3142-19T>C
|
|
|
NM_001875.5(CPS1):c.3142-4C>A
|
|
|
NM_001875.5(CPS1):c.3149G>A (p.Gly1050Asp)
|
|
|
NM_001875.5(CPS1):c.3183A>G (p.Pro1061=)
|
rs2105907892
|
|
NM_001875.5(CPS1):c.3190C>T (p.Leu1064=)
|
|
|
NM_001875.5(CPS1):c.3204A>C (p.Leu1068=)
|
rs766909251
|
|
NM_001875.5(CPS1):c.3207C>T (p.Tyr1069=)
|
|
|
NM_001875.5(CPS1):c.3210G>A (p.Lys1070=)
|
rs1406035411
|
|
NM_001875.5(CPS1):c.3216T>C (p.Gly1072=)
|
rs1574638509
|
|
NM_001875.5(CPS1):c.3225C>T (p.Ile1075=)
|
rs1164414139
|
|
NM_001875.5(CPS1):c.3237C>T (p.Ser1079=)
|
|
|
NM_001875.5(CPS1):c.3242T>C (p.Leu1081Pro)
|
|
|
NM_001875.5(CPS1):c.3249C>T (p.Ile1083=)
|
rs751008875
|
|
NM_001875.5(CPS1):c.3261G>A (p.Glu1087=)
|
|
|
NM_001875.5(CPS1):c.3267C>T (p.Arg1089=)
|
|
|
NM_001875.5(CPS1):c.3276C>T (p.Phe1092=)
|
|
|
NM_001875.5(CPS1):c.3279A>T (p.Ser1093=)
|
|
|
NM_001875.5(CPS1):c.3282T>A (p.Ala1094=)
|
|
|
NM_001875.5(CPS1):c.3285C>T (p.Val1095=)
|
|
|
NM_001875.5(CPS1):c.330T>C (p.Thr110=)
|
rs777617670
|
|
NM_001875.5(CPS1):c.3313C>T (p.Pro1105Ser)
|
rs761921978
|
|
NM_001875.5(CPS1):c.3330T>C (p.Asn1110=)
|
|
|
NM_001875.5(CPS1):c.3334T>C (p.Leu1112=)
|
rs1700437349
|
|
NM_001875.5(CPS1):c.3336+10G>T
|
rs1233070918
|
|
NM_001875.5(CPS1):c.3336+13A>G
|
|
|
NM_001875.5(CPS1):c.3336+16A>C
|
|
|
NM_001875.5(CPS1):c.3336+16A>T
|
|
|
NM_001875.5(CPS1):c.3336+18T>A
|
|
|
NM_001875.5(CPS1):c.3336+18T>G
|
|
|
NM_001875.5(CPS1):c.3336+7A>G
|
rs1574638794
|
|
NM_001875.5(CPS1):c.3337-14T>C
|
|
|
NM_001875.5(CPS1):c.3337-14T>G
|
|
|
NM_001875.5(CPS1):c.3337-17T>C
|
|
|
NM_001875.5(CPS1):c.3337-18G>A
|
|
|
NM_001875.5(CPS1):c.3337-8T>C
|
|
|
NM_001875.5(CPS1):c.3337-9A>T
|
|
|
NM_001875.5(CPS1):c.334C>G (p.Leu112Val)
|
|
|
NM_001875.5(CPS1):c.334C>T (p.Leu112=)
|
rs149675371
|
|
NM_001875.5(CPS1):c.336G>C (p.Leu112=)
|
rs2106079689
|
|
NM_001875.5(CPS1):c.3375C>T (p.Pro1125=)
|
rs1381512911
|
|
NM_001875.5(CPS1):c.3381G>A (p.Leu1127=)
|
|
|
NM_001875.5(CPS1):c.3382T>C (p.Leu1128=)
|
|
|
NM_001875.5(CPS1):c.3393C>T (p.Ser1131=)
|
|
|
NM_001875.5(CPS1):c.3396T>C (p.Tyr1132=)
|
rs1356882838
|
|
NM_001875.5(CPS1):c.3399T>C (p.Val1133=)
|
rs1700456740
|
|
NM_001875.5(CPS1):c.33G>A (p.Val11=)
|
rs1696925949
|
|
NM_001875.5(CPS1):c.3404+10T>C
|
rs750058063
|
|
NM_001875.5(CPS1):c.3404+18T>G
|
|
|
NM_001875.5(CPS1):c.3404+7C>G
|
|
|
NM_001875.5(CPS1):c.3405-13C>A
|
|
|
NM_001875.5(CPS1):c.3405-17T>C
|
|
|
NM_001875.5(CPS1):c.3405-4C>G
|
|
|
NM_001875.5(CPS1):c.3405-9C>T
|
rs2105910915
|
|
NM_001875.5(CPS1):c.3408G>T (p.Gly1136=)
|
|
|
NM_001875.5(CPS1):c.3426A>G (p.Val1142=)
|
rs1700522774
|
|
NM_001875.5(CPS1):c.3438T>C (p.Asp1146=)
|
|
|
NM_001875.5(CPS1):c.3447A>G (p.Lys1149=)
|
rs1472914107
|
|
NM_001875.5(CPS1):c.3450A>G (p.Lys1150=)
|
rs2105911004
|
|
NM_001875.5(CPS1):c.3451T>C (p.Phe1151Leu)
|
|
|
NM_001875.5(CPS1):c.3454C>T (p.Leu1152=)
|
|
|
NM_001875.5(CPS1):c.3456A>C (p.Leu1152=)
|
|
|
NM_001875.5(CPS1):c.3456A>G (p.Leu1152=)
|
|
|
NM_001875.5(CPS1):c.3462G>A (p.Glu1154=)
|
|
|
NM_001875.5(CPS1):c.3465G>A (p.Ala1155=)
|
rs772806744
|
|
NM_001875.5(CPS1):c.3465G>T (p.Ala1155=)
|
|
|
NM_001875.5(CPS1):c.3471A>G (p.Arg1157=)
|
rs2105911036
|
|
NM_001875.5(CPS1):c.3477T>G (p.Ser1159=)
|
|
|
NM_001875.5(CPS1):c.3480+15C>A
|
|
|
NM_001875.5(CPS1):c.3480+18T>G
|
|
|
NM_001875.5(CPS1):c.3480+7T>C
|
|
|
NM_001875.5(CPS1):c.3480+9C>T
|
|
|
NM_001875.5(CPS1):c.3481-11C>T
|
|
|
NM_001875.5(CPS1):c.3481-12C>T
|
|
|
NM_001875.5(CPS1):c.3481-7G>C
|
rs368909569
|
|
NM_001875.5(CPS1):c.3489A>G (p.Pro1163=)
|
rs1574646028
|
|
NM_001875.5(CPS1):c.348A>G (p.Gly116=)
|
|
|
NM_001875.5(CPS1):c.3498G>A (p.Leu1166=)
|
rs1342564191
|
|
NM_001875.5(CPS1):c.3498G>C (p.Leu1166=)
|
|
|
NM_001875.5(CPS1):c.3510T>C (p.Val1170=)
|
|
|
NM_001875.5(CPS1):c.3510T>G (p.Val1170=)
|
rs2105914973
|
|
NM_001875.5(CPS1):c.3513A>G (p.Glu1171=)
|
rs750625969
|
|
NM_001875.5(CPS1):c.3520C>A (p.Arg1174=)
|
rs756337473
|
|
NM_001875.5(CPS1):c.3543T>C (p.Val1181=)
|
|
|
NM_001875.5(CPS1):c.3552T>C (p.Asp1184=)
|
rs769391518
|
|
NM_001875.5(CPS1):c.3558+11dup
|
rs2105915101
|
|
NM_001875.5(CPS1):c.3558+15C>A
|
|
|
NM_001875.5(CPS1):c.3558+17C>T
|
|
|
NM_001875.5(CPS1):c.3558+18A>G
|
|
|
NM_001875.5(CPS1):c.3558+20C>G
|
|
|
NM_001875.5(CPS1):c.3558+7G>C
|
rs764456030
|
|
NM_001875.5(CPS1):c.3559-15T>G
|
|
|
NM_001875.5(CPS1):c.3559-16T>A
|
|
|
NM_001875.5(CPS1):c.3559-16T>C
|
|
|
NM_001875.5(CPS1):c.3559-17T>A
|
|
|
NM_001875.5(CPS1):c.3559-20T>C
|
rs1181977935
|
|
NM_001875.5(CPS1):c.3559-7_3559-6del
|
|
|
NM_001875.5(CPS1):c.3573C>T (p.Ala1191=)
|
|
|
NM_001875.5(CPS1):c.3576C>A (p.Ile1192=)
|
rs1204885910
|
|
NM_001875.5(CPS1):c.3579T>C (p.Ser1193=)
|
|
|
NM_001875.5(CPS1):c.3597A>C (p.Ala1199=)
|
rs2105917877
|
|
NM_001875.5(CPS1):c.3609G>T (p.Ser1203=)
|
rs148237524
|
|
NM_001875.5(CPS1):c.3622C>A (p.Leu1208Met)
|
|
|
NM_001875.5(CPS1):c.3622C>T (p.Leu1208=)
|
rs755531304
|
|
NM_001875.5(CPS1):c.3628C>T (p.Leu1210=)
|
rs1700715964
|
|
NM_001875.5(CPS1):c.3633C>T (p.Pro1211=)
|
rs2105917938
|
|
NM_001875.5(CPS1):c.3634A>G (p.Thr1212Ala)
|
|
|
NM_001875.5(CPS1):c.3651A>G (p.Gln1217=)
|
|
|
NM_001875.5(CPS1):c.3655G>A (p.Ala1219Thr)
|
|
|
NM_001875.5(CPS1):c.3666+12T>C
|
|
|
NM_001875.5(CPS1):c.3666+8T>C
|
rs2105918017
|
|
NM_001875.5(CPS1):c.3667-12T>A
|
|
|
NM_001875.5(CPS1):c.3667-12T>G
|
|
|
NM_001875.5(CPS1):c.3667-15T>C
|
|
|
NM_001875.5(CPS1):c.3669G>A (p.Val1223=)
|
|
|
NM_001875.5(CPS1):c.3672G>A (p.Lys1224=)
|
rs373326677
|
|
NM_001875.5(CPS1):c.3687G>A (p.Lys1229=)
|
rs115897023
|
|
NM_001875.5(CPS1):c.3696G>A (p.Lys1232=)
|
|
|
NM_001875.5(CPS1):c.3711T>C (p.Ser1237=)
|
rs1559131877
|
|
NM_001875.5(CPS1):c.3714T>C (p.Gly1238=)
|
|
|
NM_001875.5(CPS1):c.3720C>T (p.Phe1240=)
|
rs2105920654
|
|
NM_001875.5(CPS1):c.372T>C (p.Asn124=)
|
|
|
NM_001875.5(CPS1):c.3753C>G (p.Val1251=)
|
|
|
NM_001875.5(CPS1):c.3756+13A>G
|
|
|
NM_001875.5(CPS1):c.3756+9T>A
|
rs2105920715
|
|
NM_001875.5(CPS1):c.3757-13T>C
|
|
|
NM_001875.5(CPS1):c.3757-17G>C
|
|
|
NM_001875.5(CPS1):c.3757-19T>G
|
|
|
NM_001875.5(CPS1):c.3757-7T>C
|
rs1574654116
|
|
NM_001875.5(CPS1):c.375A>G (p.Gly125=)
|
rs1697717041
|
|
NM_001875.5(CPS1):c.3765G>A (p.Glu1255=)
|
|
|
NM_001875.5(CPS1):c.3771C>T (p.Asn1257=)
|
|
|
NM_001875.5(CPS1):c.3780T>C (p.Ala1260=)
|
rs2105922887
|
|
NM_001875.5(CPS1):c.3786A>G (p.Arg1262=)
|
|
|
NM_001875.5(CPS1):c.378C>A (p.Ile126=)
|
|
|
NM_001875.5(CPS1):c.3792C>T (p.Phe1264=)
|
|
|
NM_001875.5(CPS1):c.3804C>T (p.Ser1268=)
|
|
|
NM_001875.5(CPS1):c.381+14T>C
|
|
|
NM_001875.5(CPS1):c.381+14T>G
|
|
|
NM_001875.5(CPS1):c.381+16G>C
|
|
|
NM_001875.5(CPS1):c.381+9A>C
|
rs1447837168
|
|
NM_001875.5(CPS1):c.381+9A>G
|
rs1447837168
|
|
NM_001875.5(CPS1):c.3810T>C (p.Thr1270=)
|
|
|
NM_001875.5(CPS1):c.382-10_382-7del
|
rs1354079241
|
|
NM_001875.5(CPS1):c.382-11T>C
|
|
|
NM_001875.5(CPS1):c.382-6T>G
|
|
|
NM_001875.5(CPS1):c.382-7T>C
|
rs1449373331
|
|
NM_001875.5(CPS1):c.382-8C>T
|
|
|
NM_001875.5(CPS1):c.3840C>T (p.Thr1280=)
|
|
|
NM_001875.5(CPS1):c.3843G>A (p.Lys1281=)
|
|
|
NM_001875.5(CPS1):c.3858G>A (p.Glu1286=)
|
|
|
NM_001875.5(CPS1):c.3864T>C (p.Val1288=)
|
rs2105923010
|
|
NM_001875.5(CPS1):c.3870G>A (p.Glu1290=)
|
|
|
NM_001875.5(CPS1):c.3882A>G (p.Pro1294=)
|
|
|
NM_001875.5(CPS1):c.3886T>C (p.Leu1296=)
|
rs763535883
|
|
NM_001875.5(CPS1):c.3897C>T (p.Pro1299=)
|
rs1167952434
|
|
NM_001875.5(CPS1):c.3903T>A (p.Ile1301=)
|
rs2105923081
|
|
NM_001875.5(CPS1):c.3906T>G (p.Pro1302=)
|
rs750884050
|
|
NM_001875.5(CPS1):c.3909T>C (p.Ala1303=)
|
rs200579952
|
|
NM_001875.5(CPS1):c.3909T>G (p.Ala1303=)
|
rs200579952
|
|
NM_001875.5(CPS1):c.3915T>C (p.Tyr1305=)
|
|
|
NM_001875.5(CPS1):c.3918T>C (p.Val1306=)
|
|
|
NM_001875.5(CPS1):c.3927+11C>A
|
|
|
NM_001875.5(CPS1):c.3927+11C>T
|
|
|
NM_001875.5(CPS1):c.3927+18T>G
|
|
|
NM_001875.5(CPS1):c.3927+19T>C
|
|
|
NM_001875.5(CPS1):c.3927+20A>G
|
|
|
NM_001875.5(CPS1):c.3927+20A>T
|
|
|
NM_001875.5(CPS1):c.3927+9T>C
|
rs2105923157
|
|
NM_001875.5(CPS1):c.3928-10T>C
|
rs1700977284
|
|
NM_001875.5(CPS1):c.3928-16T>A
|
|
|
NM_001875.5(CPS1):c.3928-19T>A
|
|
|
NM_001875.5(CPS1):c.3928-19T>G
|
rs77561958
|
|
NM_001875.5(CPS1):c.3928-20del
|
|
|
NM_001875.5(CPS1):c.3928-22_3928-20del
|
rs1700976248
|
|
NM_001875.5(CPS1):c.3928-4A>T
|
|
|
NM_001875.5(CPS1):c.3928-6C>T
|
rs1266870551
|
|
NM_001875.5(CPS1):c.3928-8_3928-7del
|
|
|
NM_001875.5(CPS1):c.3928-8del
|
rs397703682
|
|
NM_001875.5(CPS1):c.3928-8dup
|
|
|
NM_001875.5(CPS1):c.3928-9_3928-8del
|
rs397703682
|
|
NM_001875.5(CPS1):c.3948C>G (p.Pro1316=)
|
rs777916457
|
|
NM_001875.5(CPS1):c.394C>T (p.Leu132=)
|
rs2106081624
|
|
NM_001875.5(CPS1):c.3951G>T (p.Arg1317=)
|
|
|
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val)
|
rs769593170
|
|
NM_001875.5(CPS1):c.3955A>C (p.Arg1319=)
|
rs779756304
|
|
NM_001875.5(CPS1):c.3960T>C (p.Asp1320=)
|
rs1233768209
|
|
NM_001875.5(CPS1):c.3966C>T (p.Asp1322=)
|
rs2105926163
|
|
NM_001875.5(CPS1):c.3984G>A (p.Glu1328=)
|
rs1225017097
|
|
NM_001875.5(CPS1):c.3993C>T (p.Ser1331=)
|
rs2105926215
|
|
NM_001875.5(CPS1):c.39A>C (p.Thr13=)
|
rs755098080
|
|
NM_001875.5(CPS1):c.4002+11A>G
|
|
|
NM_001875.5(CPS1):c.4002+19A>G
|
|
|
NM_001875.5(CPS1):c.4003-12A>G
|
rs534566099
|
|
NM_001875.5(CPS1):c.4003-15T>C
|
rs2105932989
|
|
NM_001875.5(CPS1):c.4003-16A>G
|
|
|
NM_001875.5(CPS1):c.4003-7T>C
|
|
|
NM_001875.5(CPS1):c.4005G>T (p.Val1335=)
|
rs2105932999
|
|
NM_001875.5(CPS1):c.4026T>C (p.Ile1342=)
|
|
|
NM_001875.5(CPS1):c.4029T>C (p.His1343=)
|
rs1286982785
|
|
NM_001875.5(CPS1):c.4035C>T (p.Ala1345=)
|
|
|
NM_001875.5(CPS1):c.4051C>T (p.Leu1351Phe)
|
|
|
NM_001875.5(CPS1):c.4056C>T (p.Ser1352=)
|
|
|
NM_001875.5(CPS1):c.4077G>A (p.Gln1359=)
|
|
|
NM_001875.5(CPS1):c.4089G>C (p.Leu1363=)
|
rs368890059
|
|
NM_001875.5(CPS1):c.4102-11T>C
|
|
|
NM_001875.5(CPS1):c.4102-14A>T
|
|
|
NM_001875.5(CPS1):c.4102-559G>C
|
rs529803364
|
|
NM_001875.5(CPS1):c.4102-8C>G
|
|
|
NM_001875.5(CPS1):c.4102-9C>G
|
|
|
NM_001875.5(CPS1):c.4111C>A (p.Arg1371=)
|
|
|
NM_001875.5(CPS1):c.4111C>T (p.Arg1371Trp)
|
|
|
NM_001875.5(CPS1):c.4117A>C (p.Arg1373=)
|
|
|
NM_001875.5(CPS1):c.4122C>T (p.Phe1374=)
|
rs1351524107
|
|
NM_001875.5(CPS1):c.4125T>C (p.Leu1375=)
|
rs2105942839
|
|
NM_001875.5(CPS1):c.4128T>C (p.Gly1376=)
|
rs777517524
|
|
NM_001875.5(CPS1):c.4161+13_4161+17del
|
|
|
NM_001875.5(CPS1):c.4161+18A>C
|
|
|
NM_001875.5(CPS1):c.4161+20G>A
|
|
|
NM_001875.5(CPS1):c.4162-13A>G
|
|
|
NM_001875.5(CPS1):c.4162-16T>C
|
|
|
NM_001875.5(CPS1):c.4162-19T>G
|
|
|
NM_001875.5(CPS1):c.4162-20T>C
|
|
|
NM_001875.5(CPS1):c.4162-4G>A
|
rs2105944013
|
|
NM_001875.5(CPS1):c.4182A>C (p.Thr1394=)
|
rs2105944072
|
|
NM_001875.5(CPS1):c.4197C>T (p.Asn1399=)
|
rs548201746
|
|
NM_001875.5(CPS1):c.4209C>A (p.Val1403=)
|
|
|
NM_001875.5(CPS1):c.420C>T (p.Tyr140=)
|
|
|
NM_001875.5(CPS1):c.4221A>T (p.Pro1407=)
|
rs1252997852
|
|
NM_001875.5(CPS1):c.4224G>C (p.Val1408=)
|
rs2105944167
|
|
NM_001875.5(CPS1):c.4227A>C (p.Ala1409=)
|
rs1574678932
|
|
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)
|
|
|
NM_001875.5(CPS1):c.4239A>G (p.Gln1413=)
|
|
|
NM_001875.5(CPS1):c.4248G>A (p.Gln1416=)
|
|
|
NM_001875.5(CPS1):c.4254C>T (p.Pro1418=)
|
|
|
NM_001875.5(CPS1):c.4266C>T (p.Ser1422=)
|
rs1389889942
|
|
NM_001875.5(CPS1):c.4274+10A>C
|
rs1701512309
|
|
NM_001875.5(CPS1):c.4274+10A>G
|
|
|
NM_001875.5(CPS1):c.4274+12G>A
|
|
|
NM_001875.5(CPS1):c.4274+14A>G
|
|
|
NM_001875.5(CPS1):c.4274+16A>T
|
|
|
NM_001875.5(CPS1):c.4274+19G>A
|
|
|
NM_001875.5(CPS1):c.4274+20T>C
|
|
|
NM_001875.5(CPS1):c.4274+8C>A
|
|
|
NM_001875.5(CPS1):c.4274+8C>T
|
rs753409248
|
|
NM_001875.5(CPS1):c.4275-13T>C
|
|
|
NM_001875.5(CPS1):c.4275-15T>G
|
rs2105945904
|
|
NM_001875.5(CPS1):c.4275-16T>C
|
|
|
NM_001875.5(CPS1):c.4275-6T>C
|
rs2105945922
|
|
NM_001875.5(CPS1):c.4275-7T>C
|
|
|
NM_001875.5(CPS1):c.4312C>A (p.Leu1438Ile)
|
|
|
NM_001875.5(CPS1):c.4317C>T (p.Pro1439=)
|
rs534152112
|
|
NM_001875.5(CPS1):c.4320C>T (p.Asn1440=)
|
|
|
NM_001875.5(CPS1):c.4332A>G (p.Lys1444=)
|
rs2105946027
|
|
NM_001875.5(CPS1):c.4357C>A (p.Arg1453=)
|
|
|
NM_001875.5(CPS1):c.4365A>G (p.Thr1455=)
|
|
|
NM_001875.5(CPS1):c.4368T>G (p.Ala1456=)
|
|
|
NM_001875.5(CPS1):c.4371T>A (p.Val1457=)
|
|
|
NM_001875.5(CPS1):c.4371T>C (p.Val1457=)
|
|
|
NM_001875.5(CPS1):c.4374T>C (p.Asp1458=)
|
rs1701560758
|
|
NM_001875.5(CPS1):c.4377T>C (p.Ser1459=)
|
rs2105946112
|
|
NM_001875.5(CPS1):c.4383C>T (p.Ile1461=)
|
rs1160139631
|
|
NM_001875.5(CPS1):c.4389C>T (p.Leu1463=)
|
|
|
NM_001875.5(CPS1):c.4392C>T (p.Leu1464=)
|
|
|
NM_001875.5(CPS1):c.4395T>C (p.Thr1465=)
|
|
|
NM_001875.5(CPS1):c.4404+11T>C
|
|
|
NM_001875.5(CPS1):c.4404+19A>G
|
|
|
NM_001875.5(CPS1):c.4404+8C>A
|
|
|
NM_001875.5(CPS1):c.4405-10A>G
|
|
|
NM_001875.5(CPS1):c.4405-14C>T
|
|
|
NM_001875.5(CPS1):c.4405-15C>T
|
|
|
NM_001875.5(CPS1):c.4405-8A>C
|
|
|
NM_001875.5(CPS1):c.4413A>G (p.Lys1471=)
|
|
|
NM_001875.5(CPS1):c.4422T>C (p.Ala1474=)
|
|
|
NM_001875.5(CPS1):c.4428T>G (p.Ala1476=)
|
|
|
NM_001875.5(CPS1):c.4437A>G (p.Lys1479=)
|
|
|
NM_001875.5(CPS1):c.4442G>A (p.Arg1481His)
|
|
|
NM_001875.5(CPS1):c.4449G>A (p.Val1483=)
|
|
|
NM_001875.5(CPS1):c.4470C>T (p.His1490=)
|
|
|
NM_001875.5(CPS1):c.4476G>A (p.Arg1492=)
|
|
|
NM_001875.5(CPS1):c.4479G>A (p.Gln1493=)
|
|
|
NM_001875.5(CPS1):c.4494A>G (p.Lys1498=)
|
rs2105947204
|
|
NM_001875.5(CPS1):c.4500A>G (p.Ala1500=)
|
|
|
NM_001875.5(CPS1):c.450G>A (p.Gly150=)
|
|
|
NM_001875.5(CPS1):c.450G>T (p.Gly150=)
|
|
|
NM_001875.5(CPS1):c.459A>C (p.Leu153=)
|
|
|
NM_001875.5(CPS1):c.459A>G (p.Leu153=)
|
rs2106081768
|
|
NM_001875.5(CPS1):c.45G>A (p.Lys15=)
|
|
|
NM_001875.5(CPS1):c.462G>A (p.Gln154=)
|
rs2106081775
|
|
NM_001875.5(CPS1):c.465A>G (p.Glu155=)
|
|
|
NM_001875.5(CPS1):c.471+10G>A
|
|
|
NM_001875.5(CPS1):c.471+18G>A
|
|
|
NM_001875.5(CPS1):c.471+9T>C
|
rs1697753704
|
|
NM_001875.5(CPS1):c.472-16A>C
|
|
|
NM_001875.5(CPS1):c.472-17C>T
|
|
|
NM_001875.5(CPS1):c.472-19T>C
|
|
|
NM_001875.5(CPS1):c.472-4A>G
|
|
|
NM_001875.5(CPS1):c.481A>G (p.Ile161Val)
|
|
|
NM_001875.5(CPS1):c.513A>G (p.Lys171=)
|
|
|
NM_001875.5(CPS1):c.528+10T>A
|
|
|
NM_001875.5(CPS1):c.528+10T>C
|
rs772104742
|
|
NM_001875.5(CPS1):c.528+11C>T
|
|
|
NM_001875.5(CPS1):c.528+12A>G
|
|
|
NM_001875.5(CPS1):c.528+17T>C
|
|
|
NM_001875.5(CPS1):c.529-15T>A
|
rs947763938
|
|
NM_001875.5(CPS1):c.529-15T>G
|
|
|
NM_001875.5(CPS1):c.529-20T>G
|
|
|
NM_001875.5(CPS1):c.529-5G>T
|
|
|
NM_001875.5(CPS1):c.529-6T>C
|
|
|
NM_001875.5(CPS1):c.531T>A (p.Gly177=)
|
rs374019321
|
|
NM_001875.5(CPS1):c.543G>A (p.Gly181=)
|
rs2106091897
|
|
NM_001875.5(CPS1):c.546G>A (p.Lys182=)
|
|
|
NM_001875.5(CPS1):c.552A>G (p.Glu184=)
|
rs2106091934
|
|
NM_001875.5(CPS1):c.567T>A (p.Pro189=)
|
|
|
NM_001875.5(CPS1):c.57C>T (p.Gly19=)
|
rs2106037275
|
|
NM_001875.5(CPS1):c.618C>A (p.Thr206=)
|
rs1697965317
|
|
NM_001875.5(CPS1):c.621+13C>T
|
|
|
NM_001875.5(CPS1):c.621+17T>G
|
|
|
NM_001875.5(CPS1):c.621+7G>A
|
|
|
NM_001875.5(CPS1):c.622-11T>C
|
|
|
NM_001875.5(CPS1):c.622-4dup
|
|
|
NM_001875.5(CPS1):c.642A>G (p.Lys214=)
|
rs2106103827
|
|
NM_001875.5(CPS1):c.654A>G (p.Thr218=)
|
|
|
NM_001875.5(CPS1):c.654A>T (p.Thr218=)
|
|
|
NM_001875.5(CPS1):c.660G>T (p.Val220=)
|
rs2106103871
|
|
NM_001875.5(CPS1):c.669A>G (p.Val223=)
|
rs2106103890
|
|
NM_001875.5(CPS1):c.66T>C (p.Asn22=)
|
rs2106037321
|
|
NM_001875.5(CPS1):c.672C>T (p.Asp224=)
|
|
|
NM_001875.5(CPS1):c.675T>C (p.Cys225=)
|
rs2106103901
|
|
NM_001875.5(CPS1):c.678G>A (p.Gly226=)
|
|
|
NM_001875.5(CPS1):c.687C>T (p.Asn229=)
|
|
|
NM_001875.5(CPS1):c.693A>C (p.Val231=)
|
|
|
NM_001875.5(CPS1):c.696C>A (p.Ile232=)
|
|
|
NM_001875.5(CPS1):c.700C>T (p.Leu234=)
|
|
|
NM_001875.5(CPS1):c.705A>G (p.Leu235=)
|
rs1574558005
|
|
NM_001875.5(CPS1):c.708A>C (p.Val236=)
|
rs2106103973
|
|
NM_001875.5(CPS1):c.711+15C>A
|
|
|
NM_001875.5(CPS1):c.711+15C>T
|
|
|
NM_001875.5(CPS1):c.711+16A>G
|
|
|
NM_001875.5(CPS1):c.711+18T>G
|
|
|
NM_001875.5(CPS1):c.711+7A>G
|
rs756703955
|
|
NM_001875.5(CPS1):c.711+8A>G
|
rs2106104009
|
|
NM_001875.5(CPS1):c.712-11C>G
|
|
|
NM_001875.5(CPS1):c.712-16del
|
|
|
NM_001875.5(CPS1):c.712-18C>T
|
|
|
NM_001875.5(CPS1):c.712-8T>C
|
|
|
NM_001875.5(CPS1):c.717A>G (p.Gly239=)
|
rs1220254817
|
|
NM_001875.5(CPS1):c.720T>C (p.Ala240=)
|
|
|
NM_001875.5(CPS1):c.726G>T (p.Val242=)
|
|
|
NM_001875.5(CPS1):c.729C>G (p.His243Gln)
|
|
|
NM_001875.5(CPS1):c.730T>C (p.Leu244=)
|
rs1698241536
|
|
NM_001875.5(CPS1):c.738C>T (p.Pro246=)
|
rs1698242132
|
|
NM_001875.5(CPS1):c.747T>C (p.His249=)
|
rs1574560501
|
|
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
|
|
|
NM_001875.5(CPS1):c.74C>T (p.Ala25Val)
|
rs149570645
|
|
NM_001875.5(CPS1):c.753C>T (p.Phe251=)
|
rs2106107631
|
|
NM_001875.5(CPS1):c.754A>G (p.Thr252Ala)
|
|
|
NM_001875.5(CPS1):c.763G>A (p.Glu255Lys)
|
|
|
NM_001875.5(CPS1):c.768T>C (p.Tyr256=)
|
rs2106107683
|
|
NM_001875.5(CPS1):c.783C>A (p.Ile261=)
|
|
|
NM_001875.5(CPS1):c.784G>A (p.Ala262Thr)
|
|
|
NM_001875.5(CPS1):c.786G>T (p.Ala262=)
|
|
|
NM_001875.5(CPS1):c.78C>T (p.His26=)
|
rs745616278
|
|
NM_001875.5(CPS1):c.801C>T (p.Asn267=)
|
|
|
NM_001875.5(CPS1):c.813A>C (p.Ala271=)
|
rs964016238
|
|
NM_001875.5(CPS1):c.816A>G (p.Glu272=)
|
rs1559092314
|
|
NM_001875.5(CPS1):c.817C>G (p.Pro273Ala)
|
|
|
NM_001875.5(CPS1):c.819A>C (p.Pro273=)
|
|
|
NM_001875.5(CPS1):c.840+11C>T
|
|
|
NM_001875.5(CPS1):c.840+12C>T
|
|
|
NM_001875.5(CPS1):c.840+7T>C
|
|
|
NM_001875.5(CPS1):c.840+9A>G
|
rs754876051
|
|
NM_001875.5(CPS1):c.841-10C>G
|
rs766131653
|
|
NM_001875.5(CPS1):c.841-13C>A
|
|
|
NM_001875.5(CPS1):c.841-18A>C
|
|
|
NM_001875.5(CPS1):c.841-8T>C
|
|
|
NM_001875.5(CPS1):c.841-9C>T
|
|
|
NM_001875.5(CPS1):c.857G>A (p.Arg286His)
|
|
|
NM_001875.5(CPS1):c.864G>A (p.Glu288=)
|
|
|
NM_001875.5(CPS1):c.876A>T (p.Gly292=)
|
rs2106108942
|
|
NM_001875.5(CPS1):c.879C>T (p.Ile293=)
|
|
|
NM_001875.5(CPS1):c.882T>C (p.Ser294=)
|
rs781583758
|
|
NM_001875.5(CPS1):c.888A>G (p.Gly296=)
|
|
|
NM_001875.5(CPS1):c.906G>C (p.Leu302Phe)
|
|
|
NM_001875.5(CPS1):c.911C>T (p.Ala304Val)
|
|
|
NM_001875.5(CPS1):c.924C>G (p.Thr308=)
|
|
|
NM_001875.5(CPS1):c.927C>T (p.Tyr309=)
|
rs1553511083
|
|
NM_001875.5(CPS1):c.945C>T (p.Asn315=)
|
|
|
NM_001875.5(CPS1):c.948-14C>T
|
|
|
NM_001875.5(CPS1):c.948-16C>A
|
|
|
NM_001875.5(CPS1):c.948-18_948-17del
|
|
|
NM_001875.5(CPS1):c.948-4C>A
|
|
|
NM_001875.5(CPS1):c.948-4C>T
|
|
|
NM_001875.5(CPS1):c.948-6del
|
|
|
NM_001875.5(CPS1):c.948-7T>C
|
|
|
NM_001875.5(CPS1):c.951G>A (p.Gly317=)
|
rs2106110944
|
|
NM_001875.5(CPS1):c.960G>A (p.Gln320=)
|
rs184908948
|
|
NM_001875.5(CPS1):c.975C>T (p.Ile325=)
|
rs749977878
|
|
NM_001875.5(CPS1):c.981C>T (p.Asn327=)
|
|
|
NM_001875.5(CPS1):c.984A>G (p.Lys328=)
|
|
|
NM_001875.5(CPS1):c.990T>C (p.Ala330=)
|
rs2106111046
|
|
NM_001875.5(CPS1):c.9G>A (p.Arg3=)
|
rs2106037152
|
|