ClinVar Miner

List of variants in gene CPS1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1483
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_001875.5(CPS1):c.1032C>T (p.Thr344=) rs2229589 0.59558
NM_001875.5(CPS1):c.4217C>A (p.Thr1406Asn) rs1047891 0.33052
NM_001875.5(CPS1):c.2193-15G>T rs2287600 0.09707
NM_001875.5(CPS1):c.4275-10A>G rs41272673 0.03250
NM_001875.5(CPS1):c.2830-18A>G rs116664530 0.02055
NM_001875.5(CPS1):c.2448C>T (p.Cys816=) rs75395645 0.01788
NM_001875.5(CPS1):c.2391+18T>G rs59741271 0.01764
NM_001875.5(CPS1):c.3355G>A (p.Ala1119Thr) rs76340296 0.01465
NM_001875.5(CPS1):c.1068C>G (p.Val356=) rs34022862 0.01287
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009 0.01275
NM_001875.5(CPS1):c.1359+7G>A rs16844647 0.00860
NM_001875.5(CPS1):c.2394C>A (p.Val798=) rs35678745 0.00828
NM_001875.5(CPS1):c.4260C>G (p.Leu1420=) rs138395129 0.00621
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130 0.00617
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met) rs79627159 0.00546
NM_001875.5(CPS1):c.712-16T>C rs187304632 0.00456
NM_001875.5(CPS1):c.3481-8C>T rs41272669 0.00424
NM_001875.5(CPS1):c.3687G>T (p.Lys1229Asn) rs115897023 0.00412
NM_001875.5(CPS1):c.1214C>A (p.Thr405Asn) rs138254425 0.00392
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.3928-17T>G rs532757361 0.00233
NM_001875.5(CPS1):c.3033G>C (p.Val1011=) rs35374255 0.00230
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138 0.00174
NM_001875.5(CPS1):c.3928-15T>C rs552764351 0.00173
NM_001875.5(CPS1):c.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.1437G>A (p.Ala479=) rs80261173 0.00114
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.381+17C>T rs374364413 0.00076
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.1039G>T (p.Ala347Ser) rs148584272 0.00064
NM_001875.5(CPS1):c.713G>A (p.Arg238Gln) rs147294932 0.00060
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.529-11T>A rs186719380 0.00053
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.1021T>G (p.Leu341Val) rs138424013 0.00049
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.1116C>T (p.Phe372=) rs200465544 0.00029
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.3927+16A>G rs188145947 0.00021
NM_001875.5(CPS1):c.5C>T (p.Thr2Met) rs150314086 0.00021
NM_001875.5(CPS1):c.4404+4T>A rs199739254 0.00020
NM_001875.5(CPS1):c.3626T>C (p.Met1209Thr) rs200569046 0.00018
NM_001875.5(CPS1):c.3057T>C (p.Thr1019=) rs150601728 0.00017
NM_001875.5(CPS1):c.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.2352A>G (p.Thr784=) rs182565798 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.3537C>T (p.Asp1179=) rs199676680 0.00011
NM_001875.5(CPS1):c.1071C>T (p.Asn357=) rs146683599 0.00010
NM_001875.5(CPS1):c.186C>T (p.Gly62=) rs529836556 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.295C>A (p.Pro99Thr) rs140999077 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.732A>G (p.Leu244=) rs565797284 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.2845G>A (p.Ala949Thr) rs537170841 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.3682C>T (p.Arg1228Trp) rs367595060 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.2066G>A (p.Arg689His) rs201256385 0.00005
NM_001875.5(CPS1):c.2148T>A (p.Asn716Lys) rs369061090 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.3538G>A (p.Ala1180Thr) rs776047286 0.00005
NM_001875.5(CPS1):c.1131C>T (p.His377=) rs372421311 0.00004
NM_001875.5(CPS1):c.1165-5T>C rs565003226 0.00004
NM_001875.5(CPS1):c.1359+19T>C rs759580115 0.00004
NM_001875.5(CPS1):c.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.2786G>A (p.Arg929Lys) rs748045437 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.4404+5A>T rs375785288 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.1145C>T (p.Pro382Leu) rs201407486 0.00003
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.2458A>G (p.Ile820Val) rs554763314 0.00003
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810 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.1201G>C (p.Gly401Arg) rs760895692 0.00002
NM_001875.5(CPS1):c.1255C>T (p.Arg419Trp) rs139818667 0.00002
NM_001875.5(CPS1):c.1275C>T (p.Val425=) rs202149657 0.00002
NM_001875.5(CPS1):c.1365A>C (p.Glu455Asp) rs1248150090 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.2026G>A (p.Glu676Lys) rs753441052 0.00002
NM_001875.5(CPS1):c.2044C>T (p.Arg682Cys) rs754653479 0.00002
NM_001875.5(CPS1):c.2116A>G (p.Thr706Ala) rs755035266 0.00002
NM_001875.5(CPS1):c.2256C>T (p.Asn752=) rs770788292 0.00002
NM_001875.5(CPS1):c.2257G>A (p.Val753Ile) rs1272423772 0.00002
NM_001875.5(CPS1):c.2459T>C (p.Ile820Thr) rs763191148 0.00002
NM_001875.5(CPS1):c.2611A>T (p.Thr871Ser) rs750006303 0.00002
NM_001875.5(CPS1):c.2623A>G (p.Lys875Glu) rs147062907 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.3395A>G (p.Tyr1132Cys) rs764150301 0.00002
NM_001875.5(CPS1):c.3954G>A (p.Leu1318=) rs1447002867 0.00002
NM_001875.5(CPS1):c.4019A>G (p.Glu1340Gly) rs748968097 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.1070A>G (p.Asn357Ser) rs761817028 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.1208C>G (p.Ala403Gly) rs754023105 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.1263+5G>C rs1275489342 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.1359+4A>G rs916389428 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.1400C>T (p.Ala467Val) rs746395584 0.00001
NM_001875.5(CPS1):c.1426T>C (p.Leu476=) rs1445507619 0.00001
NM_001875.5(CPS1):c.1456C>T (p.Pro486Ser) rs1419745583 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.155A>G (p.Asp52Gly) rs779756731 0.00001
NM_001875.5(CPS1):c.1578C>T (p.Leu526=) rs763001072 0.00001
NM_001875.5(CPS1):c.1582G>C (p.Glu528Gln) rs763466112 0.00001
NM_001875.5(CPS1):c.158G>C (p.Gly53Ala) rs140092912 0.00001
NM_001875.5(CPS1):c.1631C>T (p.Thr544Met) rs121912592 0.00001
NM_001875.5(CPS1):c.1638C>A (p.Asp546Glu) rs1326614424 0.00001
NM_001875.5(CPS1):c.1650T>C (p.Phe550=) rs1354358473 0.00001
NM_001875.5(CPS1):c.1673A>G (p.Asn558Ser) rs1698690768 0.00001
NM_001875.5(CPS1):c.1693T>A (p.Phe565Ile) rs773713162 0.00001
NM_001875.5(CPS1):c.1708-5G>A rs571670790 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.1837-8A>G rs1290474919 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.1926del (p.Asp642fs) rs1326644714 0.00001
NM_001875.5(CPS1):c.1932T>A (p.Cys644Ter) rs1251623714 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.2308G>A (p.Val770Ile) rs1237628982 0.00001
NM_001875.5(CPS1):c.2322C>G (p.Pro774=) rs1445208216 0.00001
NM_001875.5(CPS1):c.2339G>A (p.Arg780His) rs758724746 0.00001
NM_001875.5(CPS1):c.2359C>T (p.Arg787Ter) rs121912596 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.2441G>A (p.Arg814Gln) rs200731808 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.2549G>A (p.Arg850His) rs767694281 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.2740G>C (p.Asp914His) rs765484849 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.2809_2810del (p.Ile937fs) rs1318756445 0.00001
NM_001875.5(CPS1):c.2810T>A (p.Ile937Asn) rs760714614 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.2860G>T (p.Val954Leu) rs756163174 0.00001
NM_001875.5(CPS1):c.286A>G (p.Met96Val) rs1432483864 0.00001
NM_001875.5(CPS1):c.2883_2895del (p.Tyr962fs) rs1375304341 0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595 0.00001
NM_001875.5(CPS1):c.3036G>T (p.Val1012=) rs750243323 0.00001
NM_001875.5(CPS1):c.3129C>G (p.Ile1043Met) rs1294236456 0.00001
NM_001875.5(CPS1):c.3174C>T (p.Gly1058=) rs369030433 0.00001
NM_001875.5(CPS1):c.3194C>A (p.Ala1065Glu) rs770471782 0.00001
NM_001875.5(CPS1):c.3204A>G (p.Leu1068=) rs766909251 0.00001
NM_001875.5(CPS1):c.3272T>G (p.Ile1091Ser) rs538878532 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.3292G>A (p.Glu1098Lys) rs768579926 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.3336+4A>G rs776401808 0.00001
NM_001875.5(CPS1):c.3368A>T (p.Asp1123Val) rs1391357751 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.3464C>T (p.Ala1155Val) rs766125631 0.00001
NM_001875.5(CPS1):c.3483G>A (p.Glu1161=) rs906879658 0.00001
NM_001875.5(CPS1):c.3521G>A (p.Arg1174Gln) rs553145464 0.00001
NM_001875.5(CPS1):c.3552T>G (p.Asp1184Glu) rs769391518 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.3607T>C (p.Ser1203Pro) rs1319489001 0.00001
NM_001875.5(CPS1):c.3630G>A (p.Leu1210=) rs778094703 0.00001
NM_001875.5(CPS1):c.3662A>G (p.Glu1221Gly) rs1276176761 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.3784C>T (p.Arg1262Ter) rs1414143303 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.4002G>A (p.Glu1334=) rs774434356 0.00001
NM_001875.5(CPS1):c.4003-3C>A rs779886770 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.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.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001875.5(CPS1):c.4194C>T (p.Leu1398=) rs1300448311 0.00001
NM_001875.5(CPS1):c.4198G>A (p.Ala1400Thr) rs779382562 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.4274+2T>C rs1374322297 0.00001
NM_001875.5(CPS1):c.4300C>T (p.Leu1434=) rs752311782 0.00001
NM_001875.5(CPS1):c.4303G>A (p.Val1435Met) rs778325183 0.00001
NM_001875.5(CPS1):c.4350T>C (p.Tyr1450=) rs771831155 0.00001
NM_001875.5(CPS1):c.4357C>T (p.Arg1453Trp) rs933813349 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.586A>G (p.Asn196Asp) rs770935194 0.00001
NM_001875.5(CPS1):c.655A>G (p.Lys219Glu) rs769324029 0.00001
NM_001875.5(CPS1):c.690T>C (p.Asn230=) rs762276786 0.00001
NM_001875.5(CPS1):c.697C>T (p.Arg233Cys) rs767905306 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.856C>T (p.Arg286Cys) rs202130487 0.00001
NM_001875.5(CPS1):c.867A>G (p.Pro289=) rs1441290967 0.00001
NM_001875.5(CPS1):c.8G>T (p.Arg3Met) rs750705469 0.00001
NM_001875.5(CPS1):c.994A>T (p.Ile332Phe) rs1394302181 0.00001
NM_001875.5(CPS1):c.996T>C (p.Ile332=) rs754231161 0.00001
NC_000002.11:g.(?_211421433)_(211421593_?)del
NC_000002.11:g.(?_211421433)_(211473293_?)del
NC_000002.11:g.(?_211421458)_(211542709_?)dup
NC_000002.11:g.(?_211441050)_(211542729_?)del
NC_000002.11:g.(?_211454820)_(211455640_?)dup
NC_000002.11:g.(?_211456088)_(211479828_?)dup
NC_000002.11:g.(?_211469816)_(211477027_?)del
NC_000002.11:g.(?_211503854)_(211503959_?)del
NC_000002.11:g.(?_211507198)_(211515172_?)del
NC_000002.11:g.(?_211512577)_(211513274_?)del
NC_000002.12:g.(?_210658579)_(210678005_?)del
NC_000002.12:g.210577425_210577431del rs2106081592
NM_001875.5(CPS1):c.1000G>A (p.Ala334Thr) rs2106111068
NM_001875.5(CPS1):c.1003C>T (p.Gln335Ter) rs1698314043
NM_001875.5(CPS1):c.1013G>A (p.Gly338Asp)
NM_001875.5(CPS1):c.1014C>G (p.Gly338=)
NM_001875.5(CPS1):c.1016A>G (p.Tyr339Cys)
NM_001875.5(CPS1):c.1018G>A (p.Ala340Thr)
NM_001875.5(CPS1):c.1020C>T (p.Ala340=) rs1398138189
NM_001875.5(CPS1):c.1026C>A (p.Asp342Glu)
NM_001875.5(CPS1):c.1028A>G (p.Asn343Ser)
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.1030A>T (p.Thr344Ser) rs1047883
NM_001875.5(CPS1):c.1031C>G (p.Thr344Ser) rs113394579
NM_001875.5(CPS1):c.1031C>T (p.Thr344Ile)
NM_001875.5(CPS1):c.1036C>T (p.Pro346Ser)
NM_001875.5(CPS1):c.1038T>G (p.Pro346=) rs2106111216
NM_001875.5(CPS1):c.1044C>T (p.Gly348=)
NM_001875.5(CPS1):c.104G>A (p.Gly35Asp) rs1574520391
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+1G>A rs1553511326
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.1100A>C (p.Glu367Ala)
NM_001875.5(CPS1):c.1101G>A (p.Glu367=) rs975444103
NM_001875.5(CPS1):c.1109C>G (p.Pro370Arg) rs149107897
NM_001875.5(CPS1):c.1110C>T (p.Pro370=)
NM_001875.5(CPS1):c.1110del (p.Phe371fs) rs1698355880
NM_001875.5(CPS1):c.1112del (p.Phe371fs) rs2106113137
NM_001875.5(CPS1):c.1122G>T (p.Val374=)
NM_001875.5(CPS1):c.1139T>C (p.Val380Ala) rs2106113219
NM_001875.5(CPS1):c.1140C>A (p.Val380=)
NM_001875.5(CPS1):c.1141_1149del (p.Thr381_Gly383del) rs1698357897
NM_001875.5(CPS1):c.1146G>T (p.Pro382=)
NM_001875.5(CPS1):c.114C>T (p.Leu38=)
NM_001875.5(CPS1):c.1150C>A (p.Pro384Thr) rs2106113248
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+12del
NM_001875.5(CPS1):c.1164+13G>C
NM_001875.5(CPS1):c.1164+16G>C
NM_001875.5(CPS1):c.1164+1G>A
NM_001875.5(CPS1):c.1164+20C>A
NM_001875.5(CPS1):c.1164+3A>G
NM_001875.5(CPS1):c.1164+5G>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.1165-2A>G rs1305369403
NM_001875.5(CPS1):c.1165-6T>C
NM_001875.5(CPS1):c.1170G>C (p.Leu390=) rs2106116338
NM_001875.5(CPS1):c.1187C>A (p.Ser396Ter) rs961015305
NM_001875.5(CPS1):c.1189C>T (p.Leu397=)
NM_001875.5(CPS1):c.1196A>G (p.Lys399Arg)
NM_001875.5(CPS1):c.1197del (p.Gly401fs)
NM_001875.5(CPS1):c.1198_1201del (p.Lys400fs)
NM_001875.5(CPS1):c.1199A>C (p.Lys400Thr)
NM_001875.5(CPS1):c.1209T>A (p.Ala403=) rs2106116420
NM_001875.5(CPS1):c.1221_1222del (p.Val409fs)
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.125del (p.Lys42fs)
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.1264-1G>T
NM_001875.5(CPS1):c.1264-3T>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.127-2A>G
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.1295G>A (p.Gly432Asp)
NM_001875.5(CPS1):c.1302C>A (p.Ser434=)
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp) rs1553511785
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro) rs772497399
NM_001875.5(CPS1):c.1315G>A (p.Gly439Arg) rs2106118268
NM_001875.5(CPS1):c.1323dup (p.Asp442Ter) rs1553511789
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.1360-1G>C
NM_001875.5(CPS1):c.1360-7_1360-6del
NM_001875.5(CPS1):c.1360-8T>C
NM_001875.5(CPS1):c.1370T>G (p.Val457Gly) rs371350538
NM_001875.5(CPS1):c.1371C>G (p.Val457=) rs1698623665
NM_001875.5(CPS1):c.1376del (p.Thr459fs)
NM_001875.5(CPS1):c.1378G>C (p.Val460Leu)
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.1400C>A (p.Ala467Glu)
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.1424del (p.Gly475fs) rs1375157321
NM_001875.5(CPS1):c.1431G>A (p.Lys477=)
NM_001875.5(CPS1):c.1432C>T (p.Gln478Ter) rs2106126181
NM_001875.5(CPS1):c.1436C>T (p.Ala479Val)
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.1468C>T (p.Gln490Ter) rs777614848
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.1509del (p.Gly503_Leu504insTer) rs2106126478
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp) rs1255335680
NM_001875.5(CPS1):c.1529del (p.Gly510fs) rs764384490
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.1549+1G>A
NM_001875.5(CPS1):c.1549+1G>T rs774484322
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.1561T>C (p.Phe521Leu) rs1698684090
NM_001875.5(CPS1):c.1562T>G (p.Phe521Cys) rs2105840290
NM_001875.5(CPS1):c.1587T>C (p.Tyr529=)
NM_001875.5(CPS1):c.1596del (p.Val533fs)
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.1648T>C (p.Phe550Leu) rs1016767752
NM_001875.5(CPS1):c.1660C>T (p.Leu554=)
NM_001875.5(CPS1):c.1665T>C (p.Asn555=) rs745650408
NM_001875.5(CPS1):c.1670T>C (p.Ile557Thr)
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.1692T>A (p.Ser564Arg)
NM_001875.5(CPS1):c.1698A>G (p.Ala566=) rs2105840611
NM_001875.5(CPS1):c.1699G>C (p.Val567Leu)
NM_001875.5(CPS1):c.1706C>T (p.Ser569Leu)
NM_001875.5(CPS1):c.1707+11T>C
NM_001875.5(CPS1):c.1707+20G>A
NM_001875.5(CPS1):c.1707G>A (p.Ser569=)
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>A
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.1747C>T (p.Pro583Ser)
NM_001875.5(CPS1):c.174T>C (p.Gly58=)
NM_001875.5(CPS1):c.1754T>C (p.Met585Thr) rs1698751783
NM_001875.5(CPS1):c.1759C>T (p.Arg587Cys)
NM_001875.5(CPS1):c.1760G>A (p.Arg587His) rs1553512642
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.1775dup (p.Gly594fs) rs1341782266
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+2T>C rs1574577755
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.1846A>G (p.Met616Val)
NM_001875.5(CPS1):c.1854C>T (p.Asn618=) rs1329765894
NM_001875.5(CPS1):c.1862T>C (p.Leu621Pro) rs2105847240
NM_001875.5(CPS1):c.1864G>A (p.Val622Met) rs1553512962
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.1891G>T (p.Glu631Ter)
NM_001875.5(CPS1):c.1893A>G (p.Glu631=) rs2105847319
NM_001875.5(CPS1):c.1895T>G (p.Ile632Arg) rs1553512974
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.1910T>C (p.Val637Ala)
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter) rs759201450
NM_001875.5(CPS1):c.1913G>A (p.Arg638Gln)
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.1930del (p.Cys644fs)
NM_001875.5(CPS1):c.1937C>G (p.Thr646Ser)
NM_001875.5(CPS1):c.1941_1944del (p.Cys648fs)
NM_001875.5(CPS1):c.1944dup (p.Asn649Ter)
NM_001875.5(CPS1):c.1947C>T (p.Asn649=)
NM_001875.5(CPS1):c.1949T>C (p.Met650Thr) rs1698865403
NM_001875.5(CPS1):c.194C>T (p.Ser65Phe)
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.1970G>A (p.Gly657Asp)
NM_001875.5(CPS1):c.1970del (p.Gly657fs)
NM_001875.5(CPS1):c.1981+12A>G
NM_001875.5(CPS1):c.1981+14C>T
NM_001875.5(CPS1):c.1981+1G>C
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.1982G>A (p.Gly661Asp) rs2105849848
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.2011A>G (p.Thr671Ala) rs1698926726
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.2033A>G (p.Gln678Arg)
NM_001875.5(CPS1):c.2040G>A (p.Leu680=)
NM_001875.5(CPS1):c.2045G>A (p.Arg682His)
NM_001875.5(CPS1):c.2051C>G (p.Ser684Ter) rs1698929326
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.2083G>A (p.Gly695Ser)
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.2131T>C (p.Cys711Arg) rs1244823608
NM_001875.5(CPS1):c.2134A>G (p.Ile712Val)
NM_001875.5(CPS1):c.2140G>T (p.Glu714Ter) rs1337182136
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu) rs551261693
NM_001875.5(CPS1):c.2161C>T (p.Arg721Ter) rs202107577
NM_001875.5(CPS1):c.2171_2175del (p.Ala724fs) rs2105850258
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.2192G>A (p.Gly731Asp)
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.221A>G (p.Asn74Ser)
NM_001875.5(CPS1):c.2226C>T (p.Ala742=)
NM_001875.5(CPS1):c.2233A>C (p.Ile745Leu)
NM_001875.5(CPS1):c.2244A>G (p.Pro748=)
NM_001875.5(CPS1):c.2260G>A (p.Val754Ile)
NM_001875.5(CPS1):c.2262A>G (p.Val754=)
NM_001875.5(CPS1):c.2265C>A (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2265C>T (p.Ser755=) rs41272667
NM_001875.5(CPS1):c.2266G>A (p.Gly756Arg)
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.2324G>A (p.Arg775His) rs766970243
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.236+5G>A rs1553509024
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.2375T>C (p.Met792Thr)
NM_001875.5(CPS1):c.2375del (p.Met792fs) rs1699004800
NM_001875.5(CPS1):c.2376G>C (p.Met792Ile) rs1553513429
NM_001875.5(CPS1):c.237G>A (p.Gly79=) rs770681923
NM_001875.5(CPS1):c.2381G>T (p.Ser794Ile) rs1247456569
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.2391+1G>T rs1553513433
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.2403dup (p.Gly802fs) rs2105858978
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly) rs201716417
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys) rs201716417
NM_001875.5(CPS1):c.2408dup (p.Thr804fs) rs2105859007
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.2429A>G (p.Gln810Arg) rs1553513864
NM_001875.5(CPS1):c.243A>C (p.Pro81=)
NM_001875.5(CPS1):c.243A>G (p.Pro81=) rs2106079420
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp) rs772782772
NM_001875.5(CPS1):c.2446del (p.Cys816fs) rs2105859077
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.2470_2482del (p.Thr824fs) rs2105859138
NM_001875.5(CPS1):c.2475C>T (p.Pro825=) rs751784059
NM_001875.5(CPS1):c.2477G>A (p.Arg826His)
NM_001875.5(CPS1):c.2477del (p.Arg826fs)
NM_001875.5(CPS1):c.2481C>T (p.Leu827=) rs1699152712
NM_001875.5(CPS1):c.2485A>G (p.Met829Val)
NM_001875.5(CPS1):c.2498G>A (p.Trp833Ter)
NM_001875.5(CPS1):c.2499G>A (p.Trp833Ter)
NM_001875.5(CPS1):c.2512G>A (p.Asp838Asn)
NM_001875.5(CPS1):c.2515C>T (p.Leu839Phe)
NM_001875.5(CPS1):c.2520A>G (p.Arg840=)
NM_001875.5(CPS1):c.2525del (p.Glu842fs)
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.2548C>T (p.Arg850Cys)
NM_001875.5(CPS1):c.254C>A (p.Thr85Asn) rs770250368
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+1G>A
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.2573T>C (p.Ile858Thr)
NM_001875.5(CPS1):c.2588C>T (p.Ser863Phe)
NM_001875.5(CPS1):c.2596G>A (p.Glu866Lys)
NM_001875.5(CPS1):c.2596G>T (p.Glu866Ter) rs1233577562
NM_001875.5(CPS1):c.25A>T (p.Lys9Ter) rs1553507167
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.2634del (p.Leu878fs) rs1699310540
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.2659A>G (p.Met887Val)
NM_001875.5(CPS1):c.2659A>T (p.Met887Leu) rs1699312076
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.2688-12A>T 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.2693C>A (p.Ser898Tyr) rs1700079203
NM_001875.5(CPS1):c.2695A>G (p.Met899Val)
NM_001875.5(CPS1):c.2709C>A (p.Thr903=) rs774243804
NM_001875.5(CPS1):c.2720C>A (p.Ala907Glu) rs1700081346
NM_001875.5(CPS1):c.2720del (p.Ala907fs)
NM_001875.5(CPS1):c.2736C>T (p.Phe912=)
NM_001875.5(CPS1):c.273A>G (p.Gly91=)
NM_001875.5(CPS1):c.2747del (p.Gln916fs)
NM_001875.5(CPS1):c.2748G>A (p.Gln916=) rs758815468
NM_001875.5(CPS1):c.2764G>A (p.Gly922Arg)
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.2819G>A (p.Trp940Ter) rs1446095060
NM_001875.5(CPS1):c.281T>G (p.Leu94Arg) rs1697713175
NM_001875.5(CPS1):c.2820G>A (p.Trp940Ter)
NM_001875.5(CPS1):c.2829+14C>G
NM_001875.5(CPS1):c.2829+15C>T
NM_001875.5(CPS1):c.2829+6G>A
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.2830-1G>C
NM_001875.5(CPS1):c.2830-1G>T rs1700129715
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.2876_2877del (p.Tyr959fs) rs1296603906
NM_001875.5(CPS1):c.2877T>C (p.Tyr959=)
NM_001875.5(CPS1):c.2884T>C (p.Tyr962His) rs1700131234
NM_001875.5(CPS1):c.2895+11G>C
NM_001875.5(CPS1):c.2895+16T>G
NM_001875.5(CPS1):c.2895+1G>A
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.2896-3del
NM_001875.5(CPS1):c.2896-9T>C
NM_001875.5(CPS1):c.2908A>G (p.Asn970Asp)
NM_001875.5(CPS1):c.2920del (p.His974fs)
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+5A>G rs745778375
NM_001875.5(CPS1):c.2959+6del
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.2975T>C (p.Phe992Ser)
NM_001875.5(CPS1):c.297T>G (p.Pro99=)
NM_001875.5(CPS1):c.2991C>G (p.Val997=)
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe) rs1404696893
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.3010C>T (p.Arg1004Cys)
NM_001875.5(CPS1):c.3015A>G (p.Gln1005=)
NM_001875.5(CPS1):c.301A>G (p.Ile101Val)
NM_001875.5(CPS1):c.3025A>C (p.Lys1009Gln)
NM_001875.5(CPS1):c.3030G>C (p.Thr1010=)
NM_001875.5(CPS1):c.3031GTG[2] (p.Val1013del) rs727502824
NM_001875.5(CPS1):c.3036G>A (p.Val1012=)
NM_001875.5(CPS1):c.303T>G (p.Ile101Met) rs1559084624
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.3062G>A (p.Ser1021Asn) rs2105901649
NM_001875.5(CPS1):c.3069C>G (p.Asp1023Glu) rs1559123272
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup) rs1288123680
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.3112G>C (p.Glu1038Gln) rs1700263629
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.3132C>G (p.Tyr1044Ter)
NM_001875.5(CPS1):c.3136C>T (p.Gln1046Ter)
NM_001875.5(CPS1):c.3141+10G>C
NM_001875.5(CPS1):c.3141+15_3141+16insG
NM_001875.5(CPS1):c.3141+15del rs577707531
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.3141+26del
NM_001875.5(CPS1):c.3141+26dup
NM_001875.5(CPS1):c.3141+2T>C rs2105901763
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.3151G>A (p.Gly1051Ser) rs2105907837
NM_001875.5(CPS1):c.3173G>C (p.Gly1058Ala) rs1700429133
NM_001875.5(CPS1):c.317C>T (p.Ala106Val) rs765026487
NM_001875.5(CPS1):c.3183A>G (p.Pro1061=) rs2105907892
NM_001875.5(CPS1):c.3190C>T (p.Leu1064=)
NM_001875.5(CPS1):c.319C>T (p.Pro107Ser)
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.3216del (p.Val1073fs) rs2105907969
NM_001875.5(CPS1):c.3225C>T (p.Ile1075=) rs1164414139
NM_001875.5(CPS1):c.3230G>A (p.Gly1077Asp)
NM_001875.5(CPS1):c.3237C>G (p.Ser1079Arg) rs889511224
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.3250G>A (p.Asp1084Asn) rs777363145
NM_001875.5(CPS1):c.3261G>A (p.Glu1087=)
NM_001875.5(CPS1):c.3262G>A (p.Asp1088Asn)
NM_001875.5(CPS1):c.3266G>A (p.Arg1089His)
NM_001875.5(CPS1):c.3266G>C (p.Arg1089Pro)
NM_001875.5(CPS1):c.3266G>T (p.Arg1089Leu) rs1280211937
NM_001875.5(CPS1):c.3267C>T (p.Arg1089=)
NM_001875.5(CPS1):c.3276C>T (p.Phe1092=)
NM_001875.5(CPS1):c.3276_3288del (p.Phe1092fs)
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.3304dup (p.Ala1102fs)
NM_001875.5(CPS1):c.3307C>T (p.Gln1103Ter) rs1327048960
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.3316T>C (p.Trp1106Arg) rs1653256261
NM_001875.5(CPS1):c.3330T>C (p.Asn1110=)
NM_001875.5(CPS1):c.3334T>C (p.Leu1112=) rs1700437349
NM_001875.5(CPS1):c.3335T>C (p.Leu1112Ser)
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+1G>A rs1700437565
NM_001875.5(CPS1):c.3336+2T>A
NM_001875.5(CPS1):c.3336+5G>A
NM_001875.5(CPS1):c.3336+7A>G rs1574638794
NM_001875.5(CPS1):c.3336G>A (p.Leu1112=) rs772400341
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.3337-1G>T rs1700452978
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.3358_3359del (p.Lys1120fs) rs1700454068
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.3380T>A (p.Leu1127Ter) rs2105908864
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.3399_3402del (p.Leu1134fs)
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.3404+9_3404+10del rs557000347
NM_001875.5(CPS1):c.3405-13C>A
NM_001875.5(CPS1):c.3405-13dup
NM_001875.5(CPS1):c.3405-17T>C
NM_001875.5(CPS1):c.3405-2A>G rs2105910926
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.3428T>C (p.Phe1143Ser) rs1700522933
NM_001875.5(CPS1):c.3438T>C (p.Asp1146=)
NM_001875.5(CPS1):c.3439G>A (p.Glu1147Lys) rs1414071158
NM_001875.5(CPS1):c.3442A>T (p.Met1148Leu)
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.3457G>T (p.Glu1153Ter) rs1700523651
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.3478C>T (p.Gln1160Ter)
NM_001875.5(CPS1):c.347G>A (p.Gly116Glu)
NM_001875.5(CPS1):c.3480+15C>A
NM_001875.5(CPS1):c.3480+18T>G
NM_001875.5(CPS1):c.3480+5T>C rs1700524730
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>A rs368909569
NM_001875.5(CPS1):c.3481-7G>C rs368909569
NM_001875.5(CPS1):c.3486_3496del (p.Pro1163fs) rs1700635072
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.349C>T (p.Leu117Phe) rs2106079743
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.3520C>T (p.Arg1174Ter) rs756337473
NM_001875.5(CPS1):c.3523G>A (p.Glu1175Lys) rs146968493
NM_001875.5(CPS1):c.3523G>C (p.Glu1175Gln)
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+1G>C rs1559129372
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.3559-2A>G rs766584384
NM_001875.5(CPS1):c.3559-7_3559-6del
NM_001875.5(CPS1):c.3559G>T (p.Val1187Phe)
NM_001875.5(CPS1):c.3568C>T (p.His1190Tyr)
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.3596C>A (p.Ala1199Glu) rs751372173
NM_001875.5(CPS1):c.3597A>C (p.Ala1199=) rs2105917877
NM_001875.5(CPS1):c.3608C>T (p.Ser1203Leu) rs149518280
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.3623T>A (p.Leu1208Gln) rs2105917916
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+1G>T rs761271604
NM_001875.5(CPS1):c.3666+2del
NM_001875.5(CPS1):c.3666+4A>G
NM_001875.5(CPS1):c.3666+6_3666+8del rs1219499475
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.3682del (p.Arg1228fs) rs2105920599
NM_001875.5(CPS1):c.3683_3756+772del
NM_001875.5(CPS1):c.3687G>A (p.Lys1229=) rs115897023
NM_001875.5(CPS1):c.3688A>G (p.Ile1230Val) rs1700803697
NM_001875.5(CPS1):c.3695del (p.Lys1232fs)
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.3736G>A (p.Val1246Ile) rs753784617
NM_001875.5(CPS1):c.3753C>G (p.Val1251=)
NM_001875.5(CPS1):c.3756+13A>G
NM_001875.5(CPS1):c.3756+3A>G rs777990487
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.3757-1G>A rs2105922845
NM_001875.5(CPS1):c.3757-7T>C rs1574654116
NM_001875.5(CPS1):c.375A>G (p.Gly125=) rs1697717041
NM_001875.5(CPS1):c.3763G>T (p.Glu1255Ter) rs2105922857
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+2T>C rs1574543988
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.3869del (p.Glu1290fs)
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.3903del (p.Pro1302fs) rs1264586092
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.3910_3913del (p.Asp1304fs)
NM_001875.5(CPS1):c.3915T>A (p.Tyr1305Ter) rs1700887978
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+5C>A
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.3935dup (p.Met1312fs) rs2105926082
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.3953T>A (p.Leu1318Ter) rs1700979727
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.4002+2T>A rs1553518395
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.4003-2A>C
NM_001875.5(CPS1):c.4003-7T>C
NM_001875.5(CPS1):c.4005G>T (p.Val1335=) rs2105932999
NM_001875.5(CPS1):c.4018G>A (p.Glu1340Lys) rs2105933010
NM_001875.5(CPS1):c.4026T>C (p.Ile1342=)
NM_001875.5(CPS1):c.4029T>C (p.His1343=) rs1286982785
NM_001875.5(CPS1):c.4034C>G (p.Ala1345Gly) rs1701168860
NM_001875.5(CPS1):c.4035C>T (p.Ala1345=)
NM_001875.5(CPS1):c.4046C>G (p.Ala1349Gly) rs1701169191
NM_001875.5(CPS1):c.4051C>T (p.Leu1351Phe)
NM_001875.5(CPS1):c.4056C>T (p.Ser1352=)
NM_001875.5(CPS1):c.4075C>T (p.Gln1359Ter) rs1701171267
NM_001875.5(CPS1):c.4077G>A (p.Gln1359=)
NM_001875.5(CPS1):c.407A>G (p.Tyr136Cys)
NM_001875.5(CPS1):c.4088_4099del (p.Leu1363_Ile1366del) rs766705843
NM_001875.5(CPS1):c.4088dup (p.Ile1364fs)
NM_001875.5(CPS1):c.4089G>C (p.Leu1363=) rs368890059
NM_001875.5(CPS1):c.4090A>G (p.Ile1364Val)
NM_001875.5(CPS1):c.4094G>A (p.Gly1365Asp) rs1701172255
NM_001875.5(CPS1):c.4101+1G>T
NM_001875.5(CPS1):c.4101+2T>C rs767575696
NM_001875.5(CPS1):c.4101G>A (p.Gln1367=)
NM_001875.5(CPS1):c.4102-11T>C
NM_001875.5(CPS1):c.4102-14A>T
NM_001875.5(CPS1):c.4102-1G>C
NM_001875.5(CPS1):c.4102-8C>G
NM_001875.5(CPS1):c.4102-9C>G
NM_001875.5(CPS1):c.4106C>T (p.Ser1369Leu)
NM_001875.5(CPS1):c.4109T>C (p.Phe1370Ser)
NM_001875.5(CPS1):c.410G>T (p.Ser137Ile) rs2106081662
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.411T>A (p.Ser137Arg)
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.412A>C (p.Lys138Gln)
NM_001875.5(CPS1):c.4140_4143dup (p.His1382fs)
NM_001875.5(CPS1):c.4159A>T (p.Lys1387Ter) rs2105942900
NM_001875.5(CPS1):c.4161+13_4161+17del
NM_001875.5(CPS1):c.4161+18A>C
NM_001875.5(CPS1):c.4161+1G>A
NM_001875.5(CPS1):c.4161+20G>A
NM_001875.5(CPS1):c.4161G>A (p.Lys1387=)
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.4162-3C>T
NM_001875.5(CPS1):c.4162-4G>A rs2105944013
NM_001875.5(CPS1):c.4182A>C (p.Thr1394=) rs2105944072
NM_001875.5(CPS1):c.4190G>A (p.Trp1397Ter)
NM_001875.5(CPS1):c.4191G>A (p.Trp1397Ter) rs1172971002
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>A (p.Tyr140Ter) rs772576138
NM_001875.5(CPS1):c.420C>T (p.Tyr140=)
NM_001875.5(CPS1):c.4220C>T (p.Pro1407Leu)
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.422A>G (p.Asn141Ser)
NM_001875.5(CPS1):c.4231C>T (p.Pro1411Ser)
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)
NM_001875.5(CPS1):c.4239A>G (p.Gln1413=)
NM_001875.5(CPS1):c.4246C>T (p.Gln1416Ter)
NM_001875.5(CPS1):c.4248G>A (p.Gln1416=)
NM_001875.5(CPS1):c.4252C>G (p.Pro1418Ala)
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.4275-5del
NM_001875.5(CPS1):c.4275-6T>C rs2105945922
NM_001875.5(CPS1):c.4275-7T>C
NM_001875.5(CPS1):c.4283G>C (p.Arg1428Thr)
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.4325A>G (p.Asn1442Ser)
NM_001875.5(CPS1):c.4332A>G (p.Lys1444=) rs2105946027
NM_001875.5(CPS1):c.4357C>A (p.Arg1453=)
NM_001875.5(CPS1):c.4358G>A (p.Arg1453Gln) rs1559142152
NM_001875.5(CPS1):c.4364C>T (p.Thr1455Ile)
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.4373A>T (p.Asp1458Val) rs1701560653
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.4382T>A (p.Ile1461Asn) rs1559142189
NM_001875.5(CPS1):c.4383C>T (p.Ile1461=) rs1160139631
NM_001875.5(CPS1):c.4388T>C (p.Leu1463Pro)
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.4401T>G (p.Phe1467Leu) rs2105946163
NM_001875.5(CPS1):c.4404+11T>C
NM_001875.5(CPS1):c.4404+19A>G
NM_001875.5(CPS1):c.4404+3A>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.4412A>T (p.Lys1471Ile) rs762221038
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.442A>G (p.Ser148Gly)
NM_001875.5(CPS1):c.442A>T (p.Ser148Cys)
NM_001875.5(CPS1):c.4437A>G (p.Lys1479=)
NM_001875.5(CPS1):c.4441C>T (p.Arg1481Cys)
NM_001875.5(CPS1):c.4442G>A (p.Arg1481His)
NM_001875.5(CPS1):c.4442G>C (p.Arg1481Pro)
NM_001875.5(CPS1):c.4449G>A (p.Val1483=)
NM_001875.5(CPS1):c.4457A>G (p.Lys1486Arg)
NM_001875.5(CPS1):c.4469A>G (p.His1490Arg) rs2105947140
NM_001875.5(CPS1):c.4470C>T (p.His1490=)
NM_001875.5(CPS1):c.4476G>A (p.Arg1492=)
NM_001875.5(CPS1):c.4478A>C (p.Gln1493Pro) rs2105947164
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.472-8dup rs761912505
NM_001875.5(CPS1):c.481A>G (p.Ile161Val)
NM_001875.5(CPS1):c.487G>T (p.Gly163Ter) rs200214298
NM_001875.5(CPS1):c.504G>T (p.Met168Ile) rs1194500413
NM_001875.5(CPS1):c.513A>G (p.Lys171=)
NM_001875.5(CPS1):c.521G>A (p.Arg174Gln)
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.528+2T>C rs1574548003
NM_001875.5(CPS1):c.528G>A (p.Lys176=) rs1559086441
NM_001875.5(CPS1):c.529-11dup
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.549T>G (p.Ile183Met)
NM_001875.5(CPS1):c.552A>G (p.Glu184=) rs2106091934
NM_001875.5(CPS1):c.563A>G (p.Gln188Arg)
NM_001875.5(CPS1):c.567T>A (p.Pro189=)
NM_001875.5(CPS1):c.57C>T (p.Gly19=) rs2106037275
NM_001875.5(CPS1):c.594_595del (p.Asn199fs) rs1553509924
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.621+8del rs1574551647
NM_001875.5(CPS1):c.622-11T>C
NM_001875.5(CPS1):c.622-2A>G rs2106103778
NM_001875.5(CPS1):c.622-3C>T rs1574557868
NM_001875.5(CPS1):c.622-4dup
NM_001875.5(CPS1):c.642A>G (p.Lys214=) rs2106103827
NM_001875.5(CPS1):c.651del (p.Thr218fs)
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.677G>T (p.Gly226Val) rs2106103911
NM_001875.5(CPS1):c.678G>A (p.Gly226=)
NM_001875.5(CPS1):c.681del (p.Asn229fs)
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.712C>T (p.Arg238Ter) rs761225695
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.731del (p.His243_Leu244insTer) rs778346264
NM_001875.5(CPS1):c.737C>T (p.Pro246Leu) rs2106107599
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.762G>A (p.Met254Ile)
NM_001875.5(CPS1):c.763G>A (p.Glu255Lys)
NM_001875.5(CPS1):c.768T>C (p.Tyr256=) rs2106107683
NM_001875.5(CPS1):c.773G>C (p.Gly258Ala) rs778299777
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.793C>A (p.Pro265Thr) rs2106107745
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+1G>T rs1206168005
NM_001875.5(CPS1):c.840+6A>G rs1477495553
NM_001875.5(CPS1):c.840+7T>C
NM_001875.5(CPS1):c.840+9A>G rs754876051
NM_001875.5(CPS1):c.840G>C (p.Lys280Asn) rs753751183
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.866del (p.Pro289fs)
NM_001875.5(CPS1):c.869dup (p.Leu290fs)
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.891C>A (p.Asn297Lys) rs1698268978
NM_001875.5(CPS1):c.895A>G (p.Ile299Val) rs2106108999
NM_001875.5(CPS1):c.906G>C (p.Leu302Phe)
NM_001875.5(CPS1):c.911C>T (p.Ala304Val)
NM_001875.5(CPS1):c.914G>T (p.Gly305Val)
NM_001875.5(CPS1):c.924C>G (p.Thr308=)
NM_001875.5(CPS1):c.927C>G (p.Tyr309Ter)
NM_001875.5(CPS1):c.927C>T (p.Tyr309=) rs1553511083
NM_001875.5(CPS1):c.945C>T (p.Asn315=)
NM_001875.5(CPS1):c.946A>T (p.Arg316Ter)
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.948-9del
NM_001875.5(CPS1):c.951G>A (p.Gly317=) rs2106110944
NM_001875.5(CPS1):c.952C>A (p.Gln318Lys)
NM_001875.5(CPS1):c.952C>T (p.Gln318Ter)
NM_001875.5(CPS1):c.958C>T (p.Gln320Ter)
NM_001875.5(CPS1):c.960G>A (p.Gln320=) rs184908948
NM_001875.5(CPS1):c.972T>G (p.Asn324Lys)
NM_001875.5(CPS1):c.975C>T (p.Ile325=) rs749977878
NM_001875.5(CPS1):c.981C>T (p.Asn327=)
NM_001875.5(CPS1):c.982A>T (p.Lys328Ter)
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

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