ClinVar Miner

List of variants in gene CPS1 reported as uncertain significance for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 397
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HGVS dbSNP gnomAD frequency
NM_001875.5(CPS1):c.4126G>A (p.Gly1376Ser) rs140578009 0.01275
NM_001875.5(CPS1):c.3029C>T (p.Thr1010Met) rs79627159 0.00546
NM_001875.5(CPS1):c.783C>T (p.Ile261=) rs142468138 0.00174
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.*274G>A rs528584074 0.00130
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204 0.00119
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00102
NM_001875.5(CPS1):c.2192+6A>T rs201058019 0.00081
NM_001875.5(CPS1):c.*187C>T rs543723956 0.00079
NM_001875.5(CPS1):c.1714G>A (p.Asp572Asn) rs142916171 0.00065
NM_001875.5(CPS1):c.1039G>T (p.Ala347Ser) rs148584272 0.00064
NM_001875.5(CPS1):c.*427C>T rs111328810 0.00062
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.948-6C>T rs112199960 0.00052
NM_001875.5(CPS1):c.1021T>G (p.Leu341Val) rs138424013 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.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.234A>G (p.Gly78=) rs182678639 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.*976C>T rs763063376 0.00016
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.*1087T>C rs760593059 0.00012
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.528+9A>G rs369476447 0.00008
NM_001875.5(CPS1):c.167T>G (p.Met56Arg) rs778958318 0.00007
NM_001875.5(CPS1):c.1478C>T (p.Thr493Ile) rs199878637 0.00006
NM_001875.5(CPS1):c.1627G>A (p.Ala543Thr) rs142369181 0.00006
NM_001875.5(CPS1):c.2845G>A (p.Ala949Thr) rs537170841 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.*848G>A rs142796725 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.3121C>T (p.Leu1041=) rs146064786 0.00005
NM_001875.5(CPS1):c.3538G>A (p.Ala1180Thr) rs776047286 0.00005
NM_001875.5(CPS1):c.-4C>A rs768210605 0.00004
NM_001875.5(CPS1):c.2786G>A (p.Arg929Lys) rs748045437 0.00004
NM_001875.5(CPS1):c.3757-10A>C rs201251176 0.00004
NM_001875.5(CPS1):c.4404+5A>T rs375785288 0.00004
NM_001875.5(CPS1):c.712-11C>T rs561995236 0.00004
NM_001875.5(CPS1):c.785C>T (p.Ala262Val) rs372217508 0.00004
NM_001875.5(CPS1):c.*235A>T rs6728169 0.00003
NM_001875.5(CPS1):c.*808G>T rs943762320 0.00003
NM_001875.5(CPS1):c.1145C>T (p.Pro382Leu) rs201407486 0.00003
NM_001875.5(CPS1):c.2458A>G (p.Ile820Val) rs554763314 0.00003
NM_001875.5(CPS1):c.2815C>T (p.Pro939Ser) rs1047579926 0.00003
NM_001875.5(CPS1):c.3265C>T (p.Arg1089Cys) rs1392559810 0.00003
NM_001875.5(CPS1):c.3472G>A (p.Val1158Ile) rs555151297 0.00003
NM_001875.5(CPS1):c.3724G>A (p.Val1242Ile) rs766236739 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.1365A>C (p.Glu455Asp) rs1248150090 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.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.302T>C (p.Ile101Thr) rs186877621 0.00002
NM_001875.5(CPS1):c.3395A>G (p.Tyr1132Cys) rs764150301 0.00002
NM_001875.5(CPS1):c.4019A>G (p.Glu1340Gly) rs748968097 0.00002
NM_001875.5(CPS1):c.436A>G (p.Thr146Ala) rs747085519 0.00002
NM_001875.5(CPS1):c.*1117A>G rs886055564 0.00001
NM_001875.5(CPS1):c.*424A>C rs1414802360 0.00001
NM_001875.5(CPS1):c.*739T>G rs886055560 0.00001
NM_001875.5(CPS1):c.*913G>T rs541817831 0.00001
NM_001875.5(CPS1):c.-76A>G rs372753413 0.00001
NM_001875.5(CPS1):c.1063A>G (p.Asn355Asp) rs1472190012 0.00001
NM_001875.5(CPS1):c.1070A>G (p.Asn357Ser) rs761817028 0.00001
NM_001875.5(CPS1):c.1092T>G (p.Ile364Met) rs772077620 0.00001
NM_001875.5(CPS1):c.112C>T (p.Leu38Phe) rs749164722 0.00001
NM_001875.5(CPS1):c.1208C>G (p.Ala403Gly) rs754023105 0.00001
NM_001875.5(CPS1):c.1359+4A>G rs916389428 0.00001
NM_001875.5(CPS1):c.1400C>T (p.Ala467Val) rs746395584 0.00001
NM_001875.5(CPS1):c.1456C>T (p.Pro486Ser) rs1419745583 0.00001
NM_001875.5(CPS1):c.155A>G (p.Asp52Gly) rs779756731 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.1638C>A (p.Asp546Glu) rs1326614424 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.1837-8A>G rs1290474919 0.00001
NM_001875.5(CPS1):c.2308G>A (p.Val770Ile) rs1237628982 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.259C>T (p.Pro87Ser) rs1553509297 0.00001
NM_001875.5(CPS1):c.2732G>A (p.Gly911Glu) rs1388955593 0.00001
NM_001875.5(CPS1):c.2738C>T (p.Ser913Leu) rs754706559 0.00001
NM_001875.5(CPS1):c.2740G>C (p.Asp914His) rs765484849 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.2860G>T (p.Val954Leu) rs756163174 0.00001
NM_001875.5(CPS1):c.286A>G (p.Met96Val) rs1432483864 0.00001
NM_001875.5(CPS1):c.2944G>A (p.Gly982Ser) rs757059355 0.00001
NM_001875.5(CPS1):c.2945G>T (p.Gly982Val) rs121912595 0.00001
NM_001875.5(CPS1):c.2957T>C (p.Ile986Thr) rs1553516442 0.00001
NM_001875.5(CPS1):c.3047A>G (p.Asn1016Ser) rs749238466 0.00001
NM_001875.5(CPS1):c.3127A>G (p.Ile1043Val) rs200237771 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.3272T>G (p.Ile1091Ser) rs538878532 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.3336+4A>G rs776401808 0.00001
NM_001875.5(CPS1):c.3368A>T (p.Asp1123Val) rs1391357751 0.00001
NM_001875.5(CPS1):c.3464C>T (p.Ala1155Val) rs766125631 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.3558+7G>A rs764456030 0.00001
NM_001875.5(CPS1):c.3662A>G (p.Glu1221Gly) rs1276176761 0.00001
NM_001875.5(CPS1):c.3683G>A (p.Arg1228Gln) rs778117194 0.00001
NM_001875.5(CPS1):c.3740A>C (p.Lys1247Thr) rs754433289 0.00001
NM_001875.5(CPS1):c.3785G>A (p.Arg1262Gln) rs750670270 0.00001
NM_001875.5(CPS1):c.390T>A (p.Gly130=) rs577598098 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.4112G>A (p.Arg1371Gln) rs765106604 0.00001
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477 0.00001
NM_001875.5(CPS1):c.4198G>A (p.Ala1400Thr) rs779382562 0.00001
NM_001875.5(CPS1):c.4274+2T>C rs1374322297 0.00001
NM_001875.5(CPS1):c.4303G>A (p.Val1435Met) rs778325183 0.00001
NM_001875.5(CPS1):c.49G>A (p.Gly17Ser) rs868808195 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.697C>T (p.Arg233Cys) rs767905306 0.00001
NM_001875.5(CPS1):c.856C>T (p.Arg286Cys) rs202130487 0.00001
NM_001875.5(CPS1):c.8G>T (p.Arg3Met) rs750705469 0.00001
NM_001875.5(CPS1):c.902G>A (p.Gly301Glu) rs973321068 0.00001
NM_001875.5(CPS1):c.937A>G (p.Met313Val) rs587780323 0.00001
NM_001875.5(CPS1):c.994A>T (p.Ile332Phe) rs1394302181 0.00001
NC_000002.11:g.(?_211421458)_(211542709_?)dup
NC_000002.11:g.(?_211503854)_(211503959_?)del
NC_000002.12:g.(?_210658579)_(210678005_?)del
NC_000002.12:g.210477765T>G rs763703546
NM_001875.5(CPS1):c.*1040C>T rs886055562
NM_001875.5(CPS1):c.*1068G>T rs886055563
NM_001875.5(CPS1):c.*311A>G rs886055558
NM_001875.5(CPS1):c.*387C>T rs886055559
NM_001875.5(CPS1):c.*5G>A rs886055556
NM_001875.5(CPS1):c.*747A>G rs1701612032
NM_001875.5(CPS1):c.*74T>C rs886055557
NM_001875.5(CPS1):c.*777A>G rs886055561
NM_001875.5(CPS1):c.-3delinsTTCC rs1553507151
NM_001875.5(CPS1):c.1000G>A (p.Ala334Thr) rs2106111068
NM_001875.5(CPS1):c.1013G>A (p.Gly338Asp)
NM_001875.5(CPS1):c.1016A>G (p.Tyr339Cys)
NM_001875.5(CPS1):c.1018G>A (p.Ala340Thr)
NM_001875.5(CPS1):c.1025ACA[1] (p.Asn343del) rs1553511264
NM_001875.5(CPS1):c.1031C>G (p.Thr344Ser) rs113394579
NM_001875.5(CPS1):c.104G>A (p.Gly35Asp) rs1574520391
NM_001875.5(CPS1):c.1100A>C (p.Glu367Ala)
NM_001875.5(CPS1):c.1109C>G (p.Pro370Arg) rs149107897
NM_001875.5(CPS1):c.1139T>C (p.Val380Ala) rs2106113219
NM_001875.5(CPS1):c.1142C>A (p.Thr381Asn)
NM_001875.5(CPS1):c.1150C>A (p.Pro384Thr) rs2106113248
NM_001875.5(CPS1):c.1164+3A>G
NM_001875.5(CPS1):c.1164+5G>A
NM_001875.5(CPS1):c.1165-12A>G rs1574566498
NM_001875.5(CPS1):c.1185C>A (p.Phe395Leu)
NM_001875.5(CPS1):c.1196A>G (p.Lys399Arg)
NM_001875.5(CPS1):c.1199A>C (p.Lys400Thr)
NM_001875.5(CPS1):c.1264-3T>C
NM_001875.5(CPS1):c.1294G>A (p.Gly432Ser)
NM_001875.5(CPS1):c.1295G>A (p.Gly432Asp)
NM_001875.5(CPS1):c.1299G>C (p.Leu433=) rs1698454990
NM_001875.5(CPS1):c.1307G>A (p.Gly436Asp) rs1553511785
NM_001875.5(CPS1):c.1312G>A (p.Ala438Thr) rs772497399
NM_001875.5(CPS1):c.1315G>A (p.Gly439Arg) rs2106118268
NM_001875.5(CPS1):c.1328A>C (p.Tyr443Ser)
NM_001875.5(CPS1):c.1352_1359+1del
NM_001875.5(CPS1):c.1355T>C (p.Met452Thr) rs1553511794
NM_001875.5(CPS1):c.1378G>C (p.Val460Leu)
NM_001875.5(CPS1):c.1400C>A (p.Ala467Glu)
NM_001875.5(CPS1):c.1436C>T (p.Ala479Val)
NM_001875.5(CPS1):c.1520G>A (p.Gly507Asp) rs1255335680
NM_001875.5(CPS1):c.1523T>C (p.Met508Thr)
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.1584A>T (p.Glu528Asp)
NM_001875.5(CPS1):c.15G>C (p.Leu5Phe) rs1696924953
NM_001875.5(CPS1):c.1648T>C (p.Phe550Leu) rs1016767752
NM_001875.5(CPS1):c.1670T>C (p.Ile557Thr)
NM_001875.5(CPS1):c.1692T>A (p.Ser564Arg)
NM_001875.5(CPS1):c.1706C>T (p.Ser569Leu)
NM_001875.5(CPS1):c.1707+3A>G rs754232832
NM_001875.5(CPS1):c.1707G>A (p.Ser569=)
NM_001875.5(CPS1):c.1708-7T>A
NM_001875.5(CPS1):c.1721T>G (p.Leu574Arg) rs1698750285
NM_001875.5(CPS1):c.1727C>A (p.Ala576Glu) rs1698750847
NM_001875.5(CPS1):c.1730C>T (p.Ala577Val) rs1559099882
NM_001875.5(CPS1):c.1747C>T (p.Pro583Ser)
NM_001875.5(CPS1):c.1754T>C (p.Met585Thr) rs1698751783
NM_001875.5(CPS1):c.1776G>C (p.Leu592=) rs995238182
NM_001875.5(CPS1):c.1846A>G (p.Met616Val)
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.1895T>G (p.Ile632Arg) rs1553512974
NM_001875.5(CPS1):c.1905A>T (p.Glu635Asp) rs1698862176
NM_001875.5(CPS1):c.1910T>C (p.Val637Ala)
NM_001875.5(CPS1):c.1913G>A (p.Arg638Gln)
NM_001875.5(CPS1):c.1937C>G (p.Thr646Ser)
NM_001875.5(CPS1):c.1949T>C (p.Met650Thr) rs1698865403
NM_001875.5(CPS1):c.194C>T (p.Ser65Phe)
NM_001875.5(CPS1):c.1970G>A (p.Gly657Asp)
NM_001875.5(CPS1):c.1982-1G>C rs1559102636
NM_001875.5(CPS1):c.1982-8A>T rs563304664
NM_001875.5(CPS1):c.1982G>A (p.Gly661Asp) rs2105849848
NM_001875.5(CPS1):c.2011A>G (p.Thr671Ala) rs1698926726
NM_001875.5(CPS1):c.2022T>A (p.Asn674Lys)
NM_001875.5(CPS1):c.2033A>G (p.Gln678Arg)
NM_001875.5(CPS1):c.2048C>G (p.Thr683Ser) rs753106342
NM_001875.5(CPS1):c.2083G>A (p.Gly695Ser)
NM_001875.5(CPS1):c.2131T>C (p.Cys711Arg) rs1244823608
NM_001875.5(CPS1):c.2134A>G (p.Ile712Val)
NM_001875.5(CPS1):c.2143G>T (p.Val715Leu) rs551261693
NM_001875.5(CPS1):c.2153G>A (p.Arg718Lys) rs1559102901
NM_001875.5(CPS1):c.2186C>T (p.Ala729Val) rs1698935242
NM_001875.5(CPS1):c.2192G>A (p.Gly731Asp)
NM_001875.5(CPS1):c.2200T>A (p.Leu734Met) rs1297131870
NM_001875.5(CPS1):c.221A>G (p.Asn74Ser)
NM_001875.5(CPS1):c.2233A>C (p.Ile745Leu)
NM_001875.5(CPS1):c.2260G>A (p.Val754Ile)
NM_001875.5(CPS1):c.2266G>A (p.Gly756Arg)
NM_001875.5(CPS1):c.2324G>A (p.Arg775His) rs766970243
NM_001875.5(CPS1):c.236+5G>A rs1553509024
NM_001875.5(CPS1):c.2375T>G (p.Met792Arg)
NM_001875.5(CPS1):c.2381G>T (p.Ser794Ile) rs1247456569
NM_001875.5(CPS1):c.2391G>T (p.Glu797Asp) rs1181945940
NM_001875.5(CPS1):c.2407C>T (p.Arg803Cys) rs201716417
NM_001875.5(CPS1):c.2415T>G (p.Phe805Leu) rs1553513861
NM_001875.5(CPS1):c.2440C>T (p.Arg814Trp) rs772782772
NM_001875.5(CPS1):c.2446T>C (p.Cys816Arg) rs1553513870
NM_001875.5(CPS1):c.2453C>T (p.Pro818Leu)
NM_001875.5(CPS1):c.2474C>T (p.Pro825Leu) rs1376614988
NM_001875.5(CPS1):c.2475C>T (p.Pro825=) rs751784059
NM_001875.5(CPS1):c.2485A>G (p.Met829Val)
NM_001875.5(CPS1):c.2515C>T (p.Leu839Phe)
NM_001875.5(CPS1):c.2537C>T (p.Pro846Leu) rs1486364626
NM_001875.5(CPS1):c.254C>A (p.Thr85Asn) rs770250368
NM_001875.5(CPS1):c.2568+10T>C rs1304867658
NM_001875.5(CPS1):c.2573T>C (p.Ile858Thr)
NM_001875.5(CPS1):c.2579ACA[1] (p.Asn861del) rs763006780
NM_001875.5(CPS1):c.2588C>T (p.Ser863Phe)
NM_001875.5(CPS1):c.2600T>C (p.Ile867Thr)
NM_001875.5(CPS1):c.2659A>G (p.Met887Val)
NM_001875.5(CPS1):c.2659A>T (p.Met887Leu) rs1699312076
NM_001875.5(CPS1):c.2688-12A>G rs376699772
NM_001875.5(CPS1):c.2693C>A (p.Ser898Tyr) rs1700079203
NM_001875.5(CPS1):c.2720C>A (p.Ala907Glu) rs1700081346
NM_001875.5(CPS1):c.2749A>G (p.Ile917Val) rs886055552
NM_001875.5(CPS1):c.2764G>A (p.Gly922Arg)
NM_001875.5(CPS1):c.2771C>T (p.Thr924Ile) rs150463750
NM_001875.5(CPS1):c.281T>G (p.Leu94Arg) rs1697713175
NM_001875.5(CPS1):c.2829+6G>A
NM_001875.5(CPS1):c.2884T>C (p.Tyr962His) rs1700131234
NM_001875.5(CPS1):c.2896-3del
NM_001875.5(CPS1):c.2932G>T (p.Val978Leu) rs779342929
NM_001875.5(CPS1):c.2959+1del rs1559121934
NM_001875.5(CPS1):c.2959+5A>G rs745778375
NM_001875.5(CPS1):c.2959+8_2959+14del rs765645129
NM_001875.5(CPS1):c.2959G>T (p.Gly987Cys) rs1553516443
NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser)
NM_001875.5(CPS1):c.2982G>C (p.Trp994Cys) rs1700257191
NM_001875.5(CPS1):c.2993C>T (p.Ser998Phe) rs1404696893
NM_001875.5(CPS1):c.3010C>T (p.Arg1004Cys)
NM_001875.5(CPS1):c.301A>G (p.Ile101Val)
NM_001875.5(CPS1):c.303T>G (p.Ile101Met) rs1559084624
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.3112G>C (p.Glu1038Gln) rs1700263629
NM_001875.5(CPS1):c.3141+15del rs577707531
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.319C>T (p.Pro107Ser)
NM_001875.5(CPS1):c.3230G>A (p.Gly1077Asp)
NM_001875.5(CPS1):c.3237C>G (p.Ser1079Arg) rs889511224
NM_001875.5(CPS1):c.3250G>A (p.Asp1084Asn) rs777363145
NM_001875.5(CPS1):c.3262G>A (p.Asp1088Asn)
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.3335T>C (p.Leu1112Ser)
NM_001875.5(CPS1):c.3336+5G>A
NM_001875.5(CPS1):c.3336G>A (p.Leu1112=) rs772400341
NM_001875.5(CPS1):c.3428T>C (p.Phe1143Ser) rs1700522933
NM_001875.5(CPS1):c.3439G>A (p.Glu1147Lys) rs1414071158
NM_001875.5(CPS1):c.3442A>T (p.Met1148Leu)
NM_001875.5(CPS1):c.3443T>A (p.Met1148Lys) rs1553517387
NM_001875.5(CPS1):c.347G>A (p.Gly116Glu)
NM_001875.5(CPS1):c.3480+3A>G
NM_001875.5(CPS1):c.3480+5T>C rs1700524730
NM_001875.5(CPS1):c.3481-7G>C rs368909569
NM_001875.5(CPS1):c.349C>T (p.Leu117Phe) rs2106079743
NM_001875.5(CPS1):c.3500C>A (p.Thr1167Lys)
NM_001875.5(CPS1):c.3503A>T (p.Lys1168Ile)
NM_001875.5(CPS1):c.3523G>C (p.Glu1175Gln)
NM_001875.5(CPS1):c.3558+8C>T rs1700638481
NM_001875.5(CPS1):c.3568C>T (p.His1190Tyr)
NM_001875.5(CPS1):c.3596C>A (p.Ala1199Glu) rs751372173
NM_001875.5(CPS1):c.3608C>T (p.Ser1203Leu) rs149518280
NM_001875.5(CPS1):c.3623T>A (p.Leu1208Gln) rs2105917916
NM_001875.5(CPS1):c.3666+4A>G
NM_001875.5(CPS1):c.3666+6_3666+8del rs1219499475
NM_001875.5(CPS1):c.3688A>G (p.Ile1230Val) rs1700803697
NM_001875.5(CPS1):c.3736G>A (p.Val1246Ile) rs753784617
NM_001875.5(CPS1):c.3742G>A (p.Gly1248Arg)
NM_001875.5(CPS1):c.3756+3A>G rs777990487
NM_001875.5(CPS1):c.3812T>C (p.Leu1271Pro)
NM_001875.5(CPS1):c.3857A>T (p.Glu1286Val) rs886055554
NM_001875.5(CPS1):c.3874C>T (p.His1292Tyr) rs886055555
NM_001875.5(CPS1):c.3927+5C>A
NM_001875.5(CPS1):c.3934A>C (p.Met1312Leu)
NM_001875.5(CPS1):c.3941C>T (p.Ser1314Phe)
NM_001875.5(CPS1):c.3949C>T (p.Arg1317Trp)
NM_001875.5(CPS1):c.3952T>G (p.Leu1318Val) rs769593170
NM_001875.5(CPS1):c.4018G>A (p.Glu1340Lys) rs2105933010
NM_001875.5(CPS1):c.4034C>G (p.Ala1345Gly) rs1701168860
NM_001875.5(CPS1):c.4046C>G (p.Ala1349Gly) rs1701169191
NM_001875.5(CPS1):c.407A>G (p.Tyr136Cys)
NM_001875.5(CPS1):c.4090A>G (p.Ile1364Val)
NM_001875.5(CPS1):c.4094G>A (p.Gly1365Asp) rs1701172255
NM_001875.5(CPS1):c.4101G>A (p.Gln1367=)
NM_001875.5(CPS1):c.4102-1G>C
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.411T>A (p.Ser137Arg)
NM_001875.5(CPS1):c.412A>C (p.Lys138Gln)
NM_001875.5(CPS1):c.4161G>A (p.Lys1387=)
NM_001875.5(CPS1):c.4162-3C>T
NM_001875.5(CPS1):c.4220C>T (p.Pro1407Leu)
NM_001875.5(CPS1):c.422A>G (p.Asn141Ser)
NM_001875.5(CPS1):c.4231C>T (p.Pro1411Ser)
NM_001875.5(CPS1):c.4232C>T (p.Pro1411Leu) rs1202306773
NM_001875.5(CPS1):c.4237C>G (p.Gln1413Glu)
NM_001875.5(CPS1):c.4252C>G (p.Pro1418Ala)
NM_001875.5(CPS1):c.4283G>C (p.Arg1428Thr)
NM_001875.5(CPS1):c.4325A>G (p.Asn1442Ser)
NM_001875.5(CPS1):c.4364C>T (p.Thr1455Ile)
NM_001875.5(CPS1):c.4373A>T (p.Asp1458Val) rs1701560653
NM_001875.5(CPS1):c.4382T>A (p.Ile1461Asn) rs1559142189
NM_001875.5(CPS1):c.4388T>C (p.Leu1463Pro)
NM_001875.5(CPS1):c.4401T>G (p.Phe1467Leu) rs2105946163
NM_001875.5(CPS1):c.4412A>T (p.Lys1471Ile) rs762221038
NM_001875.5(CPS1):c.442A>G (p.Ser148Gly)
NM_001875.5(CPS1):c.442A>T (p.Ser148Cys)
NM_001875.5(CPS1):c.4441C>T (p.Arg1481Cys)
NM_001875.5(CPS1):c.4442G>C (p.Arg1481Pro)
NM_001875.5(CPS1):c.4457A>G (p.Lys1486Arg)
NM_001875.5(CPS1):c.4463T>C (p.Leu1488Pro)
NM_001875.5(CPS1):c.4469A>G (p.His1490Arg) rs2105947140
NM_001875.5(CPS1):c.4471T>C (p.Tyr1491His) rs1553519513
NM_001875.5(CPS1):c.4478A>C (p.Gln1493Pro) rs2105947164
NM_001875.5(CPS1):c.4501T>G (p.Ter1501Glu) rs762494955
NM_001875.5(CPS1):c.504G>T (p.Met168Ile) rs1194500413
NM_001875.5(CPS1):c.520C>T (p.Arg174Trp) rs1553509661
NM_001875.5(CPS1):c.521G>A (p.Arg174Gln)
NM_001875.5(CPS1):c.528G>A (p.Lys176=) rs1559086441
NM_001875.5(CPS1):c.549T>G (p.Ile183Met)
NM_001875.5(CPS1):c.563A>G (p.Gln188Arg)
NM_001875.5(CPS1):c.593A>C (p.Gln198Pro) rs1376851408
NM_001875.5(CPS1):c.616A>T (p.Thr206Ser)
NM_001875.5(CPS1):c.622-3C>T rs1574557868
NM_001875.5(CPS1):c.677G>T (p.Gly226Val) rs2106103911
NM_001875.5(CPS1):c.737C>T (p.Pro246Leu) rs2106107599
NM_001875.5(CPS1):c.74C>A (p.Ala25Glu)
NM_001875.5(CPS1):c.74C>T (p.Ala25Val) rs149570645
NM_001875.5(CPS1):c.762G>A (p.Met254Ile)
NM_001875.5(CPS1):c.773G>C (p.Gly258Ala) rs778299777
NM_001875.5(CPS1):c.793C>A (p.Pro265Thr) rs2106107745
NM_001875.5(CPS1):c.840+6A>G rs1477495553
NM_001875.5(CPS1):c.840_840+5dup rs1273243029
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.914G>T (p.Gly305Val)
NM_001875.5(CPS1):c.945C>G (p.Asn315Lys) rs761974037
NM_001875.5(CPS1):c.952C>A (p.Gln318Lys)
NM_001875.5(CPS1):c.961C>T (p.Pro321Ser)
NM_001875.5(CPS1):c.972T>G (p.Asn324Lys)

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