ClinVar Miner

List of variants reported as likely benign for Congenital hyperammonemia, type I

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1044
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HGVS dbSNP gnomAD frequency
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.