NM_001875.5(CPS1):c.713G>A (p.Arg238Gln)
|
rs147294932
|
0.00060
|
NM_001875.5(CPS1):c.295C>A (p.Pro99Thr)
|
rs140999077
|
0.00009
|
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.2066G>A (p.Arg689His)
|
rs201256385
|
0.00005
|
NM_001875.5(CPS1):c.3538G>A (p.Ala1180Thr)
|
rs776047286
|
0.00005
|
NM_001875.5(CPS1):c.2786G>A (p.Arg929Lys)
|
rs748045437
|
0.00004
|
NM_001875.5(CPS1):c.4404+5A>T
|
rs375785288
|
0.00004
|
NM_001875.5(CPS1):c.2458A>G (p.Ile820Val)
|
rs554763314
|
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.3395A>G (p.Tyr1132Cys)
|
rs764150301
|
0.00002
|
NM_001875.5(CPS1):c.4019A>G (p.Glu1340Gly)
|
rs748968097
|
0.00002
|
NM_001875.5(CPS1):c.1070A>G (p.Asn357Ser)
|
rs761817028
|
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.2308G>A (p.Val770Ile)
|
rs1237628982
|
0.00001
|
NM_001875.5(CPS1):c.2441G>A (p.Arg814Gln)
|
rs200731808
|
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.3129C>G (p.Ile1043Met)
|
rs1294236456
|
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.3292G>A (p.Glu1098Lys)
|
rs768579926
|
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.3662A>G (p.Glu1221Gly)
|
rs1276176761
|
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.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
NM_001875.5(CPS1):c.4198G>A (p.Ala1400Thr)
|
rs779382562
|
0.00001
|
NM_001875.5(CPS1):c.4303G>A (p.Val1435Met)
|
rs778325183
|
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.856C>T (p.Arg286Cys)
|
rs202130487
|
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
|
NC_000002.11:g.(?_211421458)_(211542709_?)dup
|
|
|
NC_000002.11:g.(?_211503854)_(211503959_?)del
|
|
|
NC_000002.12:g.(?_210658579)_(210678005_?)del
|
|
|
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.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.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.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.1295G>A (p.Gly432Asp)
|
|
|
NM_001875.5(CPS1):c.1315G>A (p.Gly439Arg)
|
rs2106118268
|
|
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.1561T>C (p.Phe521Leu)
|
rs1698684090
|
|
NM_001875.5(CPS1):c.1562T>G (p.Phe521Cys)
|
rs2105840290
|
|
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.1707G>A (p.Ser569=)
|
|
|
NM_001875.5(CPS1):c.1708-7T>A
|
|
|
NM_001875.5(CPS1):c.1747C>T (p.Pro583Ser)
|
|
|
NM_001875.5(CPS1):c.1754T>C (p.Met585Thr)
|
rs1698751783
|
|
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.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.1982G>A (p.Gly661Asp)
|
rs2105849848
|
|
NM_001875.5(CPS1):c.2011A>G (p.Thr671Ala)
|
rs1698926726
|
|
NM_001875.5(CPS1):c.2033A>G (p.Gln678Arg)
|
|
|
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.2192G>A (p.Gly731Asp)
|
|
|
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.2381G>T (p.Ser794Ile)
|
rs1247456569
|
|
NM_001875.5(CPS1):c.2485A>G (p.Met829Val)
|
|
|
NM_001875.5(CPS1):c.2515C>T (p.Leu839Phe)
|
|
|
NM_001875.5(CPS1):c.254C>A (p.Thr85Asn)
|
rs770250368
|
|
NM_001875.5(CPS1):c.2573T>C (p.Ile858Thr)
|
|
|
NM_001875.5(CPS1):c.2588C>T (p.Ser863Phe)
|
|
|
NM_001875.5(CPS1):c.2659A>G (p.Met887Val)
|
|
|
NM_001875.5(CPS1):c.2659A>T (p.Met887Leu)
|
rs1699312076
|
|
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.2764G>A (p.Gly922Arg)
|
|
|
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.2959+5A>G
|
rs745778375
|
|
NM_001875.5(CPS1):c.2975T>C (p.Phe992Ser)
|
|
|
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.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.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.347G>A (p.Gly116Glu)
|
|
|
NM_001875.5(CPS1):c.3480+5T>C
|
rs1700524730
|
|
NM_001875.5(CPS1):c.349C>T (p.Leu117Phe)
|
rs2106079743
|
|
NM_001875.5(CPS1):c.3523G>C (p.Glu1175Gln)
|
|
|
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.3756+3A>G
|
rs777990487
|
|
NM_001875.5(CPS1):c.3927+5C>A
|
|
|
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.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)
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NM_001875.5(CPS1):c.4442G>C (p.Arg1481Pro)
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NM_001875.5(CPS1):c.4457A>G (p.Lys1486Arg)
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NM_001875.5(CPS1):c.4469A>G (p.His1490Arg)
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rs2105947140
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NM_001875.5(CPS1):c.4478A>C (p.Gln1493Pro)
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rs2105947164
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NM_001875.5(CPS1):c.504G>T (p.Met168Ile)
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rs1194500413
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NM_001875.5(CPS1):c.521G>A (p.Arg174Gln)
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NM_001875.5(CPS1):c.528G>A (p.Lys176=)
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rs1559086441
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NM_001875.5(CPS1):c.549T>G (p.Ile183Met)
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NM_001875.5(CPS1):c.563A>G (p.Gln188Arg)
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NM_001875.5(CPS1):c.622-3C>T
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rs1574557868
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NM_001875.5(CPS1):c.677G>T (p.Gly226Val)
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rs2106103911
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NM_001875.5(CPS1):c.737C>T (p.Pro246Leu)
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rs2106107599
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NM_001875.5(CPS1):c.762G>A (p.Met254Ile)
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NM_001875.5(CPS1):c.773G>C (p.Gly258Ala)
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rs778299777
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NM_001875.5(CPS1):c.793C>A (p.Pro265Thr)
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rs2106107745
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NM_001875.5(CPS1):c.840+6A>G
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rs1477495553
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NM_001875.5(CPS1):c.891C>A (p.Asn297Lys)
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rs1698268978
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NM_001875.5(CPS1):c.895A>G (p.Ile299Val)
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rs2106108999
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NM_001875.5(CPS1):c.914G>T (p.Gly305Val)
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|
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NM_001875.5(CPS1):c.952C>A (p.Gln318Lys)
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NM_001875.5(CPS1):c.972T>G (p.Asn324Lys)
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