List of variants reported as uncertain significance for inborn disorder of lysosomal amino acid transport by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 436

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HGVS	dbSNP	gnomAD frequency
NM_004937.3(CTNS):c.970G>A (p.Asp324Asn)	rs140326392	0.00072
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile)	rs140060360	0.00037
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)	rs200632199	0.00032
NM_005476.7(GNE):c.1933+3G>A	rs370730412	0.00021
NM_004937.3(CTNS):c.833T>C (p.Leu278Pro)	rs1314998853	0.00015
NM_004937.3(CTNS):c.332C>T (p.Pro111Leu)	rs149689304	0.00014
NM_004937.3(CTNS):c.694C>T (p.Arg232Cys)	rs138823792	0.00011
NM_004937.3(CTNS):c.556A>C (p.Ile186Leu)	rs548772179	0.00009
NM_005476.7(GNE):c.1442G>A (p.Arg481Gln)	rs138357804	0.00009
NM_012434.5(SLC17A5):c.703A>T (p.Thr235Ser)	rs747385791	0.00009
NM_005476.7(GNE):c.1651A>G (p.Ile551Val)	rs754313408	0.00008
NM_012434.5(SLC17A5):c.1316T>C (p.Val439Ala)	rs573439155	0.00007
NM_004937.3(CTNS):c.830C>T (p.Thr277Met)	rs757009591	0.00006
NM_005476.7(GNE):c.1070+5G>A	rs374170125	0.00006
NM_005476.7(GNE):c.1281+6A>T	rs201025841	0.00006
NM_005476.7(GNE):c.1871C>T (p.Ala624Val)	rs200278654	0.00006
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala)	rs372477546	0.00006
NM_004937.3(CTNS):c.139C>T (p.Arg47Trp)	rs201153770	0.00005
NM_005476.7(GNE):c.23G>A (p.Arg8Gln)	rs763057654	0.00005
NM_012434.5(SLC17A5):c.710G>A (p.Gly237Glu)	rs374659214	0.00005
NM_001128227.3(GNE):c.80G>A (p.Arg27Gln)	rs759799606	0.00004
NM_004937.3(CTNS):c.262C>A (p.Gln88Lys)	rs113875421	0.00004
NM_004937.3(CTNS):c.407T>G (p.Val136Gly)	rs764372178	0.00004
NM_005476.7(GNE):c.1129A>G (p.Ile377Val)	rs776568062	0.00004
NM_005476.7(GNE):c.1234G>A (p.Val412Ile)	rs369714039	0.00004
NM_005476.7(GNE):c.1429C>T (p.Arg477Cys)	rs551854437	0.00004
NM_005476.7(GNE):c.305T>C (p.Leu102Pro)	rs760704097	0.00004
NM_005476.7(GNE):c.598A>T (p.Ile200Phe)	rs369328625	0.00004
NM_005476.7(GNE):c.725C>T (p.Ser242Leu)	rs771167726	0.00004
NM_012434.5(SLC17A5):c.646C>G (p.Leu216Val)	rs781359811	0.00004
NM_012434.5(SLC17A5):c.704C>T (p.Thr235Ile)	rs540645365	0.00004
NM_001128227.3(GNE):c.43G>C (p.Gly15Arg)	rs762425552	0.00003
NM_005476.7(GNE):c.1156A>C (p.Lys386Gln)	rs1180382282	0.00003
NM_005476.7(GNE):c.1816+4G>C	rs760700813	0.00003
NM_005476.7(GNE):c.1907C>T (p.Ala636Val)	rs756488394	0.00003
NM_005476.7(GNE):c.2044G>A (p.Val682Ile)	rs768384042	0.00003
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val)	rs374771372	0.00003
NM_001128227.3(GNE):c.23A>G (p.Gln8Arg)	rs765794816	0.00002
NM_004937.3(CTNS):c.187C>T (p.Arg63Cys)	rs555311279	0.00002
NM_005476.7(GNE):c.1246G>A (p.Gly416Arg)	rs866841518	0.00002
NM_005476.7(GNE):c.1319A>C (p.Lys440Thr)	rs769745306	0.00002
NM_005476.7(GNE):c.1408G>C (p.Val470Leu)	rs749320547	0.00002
NM_005476.7(GNE):c.1598G>A (p.Gly533Glu)	rs201808007	0.00002
NM_005476.7(GNE):c.1622T>C (p.Ile541Thr)	rs369119154	0.00002
NM_005476.7(GNE):c.1681T>G (p.Ser561Ala)	rs776760528	0.00002
NM_005476.7(GNE):c.2029C>T (p.His677Tyr)	rs527267621	0.00002
NM_005476.7(GNE):c.604C>T (p.Arg202Cys)	rs756309840	0.00002
NM_012434.5(SLC17A5):c.1056A>C (p.Leu352Phe)	rs985998169	0.00002
NM_012434.5(SLC17A5):c.1333A>G (p.Lys445Glu)	rs751011039	0.00002
NM_012434.5(SLC17A5):c.1481G>C (p.Arg494Thr)	rs201009218	0.00002
NM_012434.5(SLC17A5):c.842C>T (p.Pro281Leu)	rs138041282	0.00002
NM_001128227.3(GNE):c.78A>T (p.Lys26Asn)	rs767777879	0.00001
NM_004937.3(CTNS):c.1008T>G (p.Phe336Leu)	rs762561354	0.00001
NM_004937.3(CTNS):c.140G>A (p.Arg47Gln)	rs745744798	0.00001
NM_004937.3(CTNS):c.355C>T (p.Arg119Cys)	rs771990787	0.00001
NM_004937.3(CTNS):c.367A>G (p.Ile123Val)	rs776104111	0.00001
NM_004937.3(CTNS):c.386T>A (p.Val129Glu)	rs1009882965	0.00001
NM_004937.3(CTNS):c.442A>T (p.Met148Leu)	rs779895948	0.00001
NM_004937.3(CTNS):c.454C>T (p.Arg152Trp)	rs754433265	0.00001
NM_004937.3(CTNS):c.535G>A (p.Gly179Ser)	rs752632797	0.00001
NM_004937.3(CTNS):c.5T>C (p.Ile2Thr)	rs768188337	0.00001
NM_004937.3(CTNS):c.682C>T (p.Arg228Cys)	rs764538705	0.00001
NM_004937.3(CTNS):c.823G>A (p.Ala275Thr)	rs752869556	0.00001
NM_004937.3(CTNS):c.82G>C (p.Val28Leu)	rs759921102	0.00001
NM_005476.7(GNE):c.1081T>C (p.Tyr361His)	rs1192630467	0.00001
NM_005476.7(GNE):c.1117T>G (p.Phe373Val)	rs794727868	0.00001
NM_005476.7(GNE):c.1259G>A (p.Arg420Gln)	rs780092539	0.00001
NM_005476.7(GNE):c.1276A>C (p.Met426Leu)	rs750404513	0.00001
NM_005476.7(GNE):c.127G>A (p.Val43Ile)	rs1223454836	0.00001
NM_005476.7(GNE):c.1310T>C (p.Phe437Ser)	rs370478702	0.00001
NM_005476.7(GNE):c.1313A>T (p.Asn438Ile)	rs772723683	0.00001
NM_005476.7(GNE):c.1325A>G (p.Tyr442Cys)	rs1214437751	0.00001
NM_005476.7(GNE):c.1327G>A (p.Glu443Lys)	rs1337925138	0.00001
NM_005476.7(GNE):c.1354A>G (p.Met452Val)	rs746051210	0.00001
NM_005476.7(GNE):c.1430G>A (p.Arg477His)	rs776109807	0.00001
NM_005476.7(GNE):c.1639G>T (p.Gly547Cys)	rs1306768272	0.00001
NM_005476.7(GNE):c.1709T>C (p.Leu570Pro)	rs775369694	0.00001
NM_005476.7(GNE):c.1727G>A (p.Gly576Glu)	rs121908625	0.00001
NM_005476.7(GNE):c.1742G>T (p.Cys581Phe)	rs756926638	0.00001
NM_005476.7(GNE):c.1769A>G (p.Tyr590Cys)	rs1363913351	0.00001
NM_005476.7(GNE):c.2003C>T (p.Ser668Phe)	rs1258671706	0.00001
NM_005476.7(GNE):c.2008G>T (p.Val670Phe)	rs746449874	0.00001
NM_005476.7(GNE):c.2071G>A (p.Val691Met)	rs763775540	0.00001
NM_005476.7(GNE):c.2113G>A (p.Ala705Thr)	rs201216576	0.00001
NM_005476.7(GNE):c.455A>C (p.Lys152Thr)	rs1157107103	0.00001
NM_005476.7(GNE):c.466T>C (p.Tyr156His)	rs794727505	0.00001
NM_005476.7(GNE):c.485G>A (p.Arg162His)	rs747640708	0.00001
NM_005476.7(GNE):c.526G>A (p.Asp176Asn)	rs774229314	0.00001
NM_005476.7(GNE):c.530G>A (p.Arg177His)	rs772597073	0.00001
NM_005476.7(GNE):c.565C>T (p.Leu189Phe)	rs567208272	0.00001
NM_005476.7(GNE):c.594G>A (p.Met198Ile)	rs1587339231	0.00001
NM_005476.7(GNE):c.608T>C (p.Met203Thr)	rs767519361	0.00001
NM_005476.7(GNE):c.766G>A (p.Ala256Thr)	rs375740268	0.00001
NM_005476.7(GNE):c.77C>G (p.Ala26Gly)	rs1266233810	0.00001
NM_012434.5(SLC17A5):c.1021T>C (p.Cys341Arg)	rs142972941	0.00001
NM_012434.5(SLC17A5):c.1138G>A (p.Val380Ile)	rs201724072	0.00001
NM_012434.5(SLC17A5):c.1154T>C (p.Ile385Thr)	rs758772703	0.00001
NM_012434.5(SLC17A5):c.1160G>C (p.Cys387Ser)	rs373162864	0.00001
NM_012434.5(SLC17A5):c.1261T>A (p.Tyr421Asn)	rs775750187	0.00001
NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu)	rs1214170788	0.00001
NM_012434.5(SLC17A5):c.137C>G (p.Ala46Gly)	rs371810705	0.00001
NM_012434.5(SLC17A5):c.1387G>A (p.Ala463Thr)	rs367852327	0.00001
NM_012434.5(SLC17A5):c.146G>T (p.Gly49Val)	rs754877029	0.00001
NM_012434.5(SLC17A5):c.338G>A (p.Gly113Asp)	rs750771008	0.00001
NM_012434.5(SLC17A5):c.542C>G (p.Ala181Gly)	rs1303660578	0.00001
NM_012434.5(SLC17A5):c.660T>G (p.Ile220Met)	rs201408081	0.00001
NM_012434.5(SLC17A5):c.724C>A (p.Leu242Ile)	rs757218186	0.00001
NM_012434.5(SLC17A5):c.762A>C (p.Lys254Asn)	rs767502652	0.00001
NM_012434.5(SLC17A5):c.95-13A>G	rs1181668892	0.00001
NC_000006.11:g.(?_74189435)_(74363609_?)dup
NC_000006.11:g.(?_74304780)_(74363629_?)dup
NC_000006.11:g.(?_74304800)_(74310184_?)dup
NC_000009.11:g.(?_36217362)_(36276941_?)dup
NC_000009.11:g.(?_36276871)_(36277059_?)dup
NC_000009.11:g.(?_36276881)_(36277049_?)dup
NC_000017.10:g.(?_3533479)_(3571820_?)dup
NM_001128227.3(GNE):c.26G>C (p.Arg9Thr)
NM_001128227.3(GNE):c.32C>T (p.Ser11Leu)
NM_001128227.3(GNE):c.36C>G (p.Cys12Trp)	rs2133208588
NM_001128227.3(GNE):c.50A>T (p.His17Leu)	rs2133208557
NM_001128227.3(GNE):c.52G>A (p.Glu18Lys)
NM_001128227.3(GNE):c.7A>G (p.Thr3Ala)
NM_001128227.3(GNE):c.86A>C (p.Lys29Thr)
NM_001128227.3(GNE):c.88C>A (p.Gln30Lys)
NM_001128227.3(GNE):c.91A>G (p.Ile31Val)
NM_004937.3(CTNS):c.1007T>A (p.Phe336Tyr)
NM_004937.3(CTNS):c.1007T>C (p.Phe336Ser)
NM_004937.3(CTNS):c.1036G>A (p.Asp346Asn)
NM_004937.3(CTNS):c.1036_1047del (p.Asp346_Phe349del)
NM_004937.3(CTNS):c.1042G>A (p.Val348Ile)
NM_004937.3(CTNS):c.1045T>G (p.Phe349Val)	rs748094459
NM_004937.3(CTNS):c.1045TTC[1] (p.Phe350del)	rs2076255711
NM_004937.3(CTNS):c.108C>G (p.Asn36Lys)
NM_004937.3(CTNS):c.122A>C (p.Asn41Thr)
NM_004937.3(CTNS):c.140+6T>C
NM_004937.3(CTNS):c.188G>T (p.Arg63Leu)
NM_004937.3(CTNS):c.191C>G (p.Ser64Cys)	rs1454743016
NM_004937.3(CTNS):c.221A>G (p.Asp74Gly)
NM_004937.3(CTNS):c.225+3A>G	rs2075909295
NM_004937.3(CTNS):c.226-13dup
NM_004937.3(CTNS):c.22A>G (p.Ile8Val)
NM_004937.3(CTNS):c.248C>T (p.Thr83Ile)	rs1295370570
NM_004937.3(CTNS):c.278A>G (p.Asn93Ser)
NM_004937.3(CTNS):c.289C>T (p.Leu97Phe)
NM_004937.3(CTNS):c.311A>G (p.Asn104Ser)
NM_004937.3(CTNS):c.328G>A (p.Gly110Ser)
NM_004937.3(CTNS):c.340_348del (p.Arg114_Leu116del)
NM_004937.3(CTNS):c.343_354del (p.Phe115_Ile118del)	rs2150919478
NM_004937.3(CTNS):c.359G>A (p.Ser120Asn)	rs2076099606
NM_004937.3(CTNS):c.365C>T (p.Ala122Val)	rs2076099841
NM_004937.3(CTNS):c.376A>G (p.Ile126Val)
NM_004937.3(CTNS):c.399C>G (p.Ile133Met)
NM_004937.3(CTNS):c.410C>A (p.Ala137Asp)	rs1413852868
NM_004937.3(CTNS):c.428A>G (p.Tyr143Cys)
NM_004937.3(CTNS):c.455G>A (p.Arg152Gln)
NM_004937.3(CTNS):c.460A>C (p.Ser154Arg)
NM_004937.3(CTNS):c.49G>A (p.Val17Ile)
NM_004937.3(CTNS):c.514G>T (p.Ala172Ser)
NM_004937.3(CTNS):c.532A>G (p.Ile178Val)
NM_004937.3(CTNS):c.54G>C (p.Glu18Asp)
NM_004937.3(CTNS):c.561+3A>G
NM_004937.3(CTNS):c.588C>A (p.Asn196Lys)
NM_004937.3(CTNS):c.592G>T (p.Val198Leu)
NM_004937.3(CTNS):c.616G>A (p.Val206Ile)
NM_004937.3(CTNS):c.619TTC[1] (p.Phe208del)	rs1555563619
NM_004937.3(CTNS):c.64T>A (p.Ser22Thr)
NM_004937.3(CTNS):c.677A>G (p.Tyr226Cys)
NM_004937.3(CTNS):c.681+2dup
NM_004937.3(CTNS):c.681+5G>A
NM_004937.3(CTNS):c.681G>C (p.Glu227Asp)
NM_004937.3(CTNS):c.683G>T (p.Arg228Leu)	rs754201055
NM_004937.3(CTNS):c.685G>A (p.Gly229Ser)	rs200336280
NM_004937.3(CTNS):c.691C>A (p.Gln231Lys)	rs1463026342
NM_004937.3(CTNS):c.70G>A (p.Val24Ile)
NM_004937.3(CTNS):c.715G>A (p.Gly239Ser)
NM_004937.3(CTNS):c.722T>C (p.Leu241Pro)
NM_004937.3(CTNS):c.766_767delinsTT (p.Ala256Leu)	rs1567713916
NM_004937.3(CTNS):c.76C>T (p.Leu26Phe)
NM_004937.3(CTNS):c.794T>C (p.Phe265Ser)
NM_004937.3(CTNS):c.814A>C (p.Ile272Leu)
NM_004937.3(CTNS):c.817A>G (p.Lys273Glu)	rs2076199463
NM_004937.3(CTNS):c.829A>G (p.Thr277Ala)
NM_004937.3(CTNS):c.838A>C (p.Lys280Gln)	rs2076200184
NM_004937.3(CTNS):c.860T>C (p.Met287Thr)
NM_004937.3(CTNS):c.869A>C (p.Tyr290Ser)
NM_004937.3(CTNS):c.86C>T (p.Pro29Leu)
NM_004937.3(CTNS):c.878G>A (p.Ser293Asn)
NM_004937.3(CTNS):c.88C>T (p.Pro30Ser)
NM_004937.3(CTNS):c.902A>G (p.Asn301Ser)
NM_004937.3(CTNS):c.911T>C (p.Leu304Pro)
NM_004937.3(CTNS):c.914A>G (p.Asp305Gly)	rs1263951539
NM_004937.3(CTNS):c.938T>A (p.Leu313His)
NM_004937.3(CTNS):c.948G>A (p.Met316Ile)
NM_004937.3(CTNS):c.976T>A (p.Trp326Arg)
NM_004937.3(CTNS):c.976T>C (p.Trp326Arg)
NM_004937.3(CTNS):c.980C>T (p.Thr327Met)
NM_004937.3(CTNS):c.982C>G (p.Leu328Val)
NM_004937.3(CTNS):c.985A>G (p.Ile329Val)
NM_005476.7(GNE):c.-42-3C>T	rs764657091
NM_005476.7(GNE):c.1016C>T (p.Thr339Ile)
NM_005476.7(GNE):c.101C>G (p.Thr34Ser)
NM_005476.7(GNE):c.101C>T (p.Thr34Ile)
NM_005476.7(GNE):c.1020A>C (p.Gln340His)	rs747807631
NM_005476.7(GNE):c.1029A>G (p.Ile343Met)	rs1829027391
NM_005476.7(GNE):c.1075A>C (p.Lys359Gln)
NM_005476.7(GNE):c.1078A>T (p.Ile360Leu)
NM_005476.7(GNE):c.107C>A (p.Pro36His)
NM_005476.7(GNE):c.1082A>T (p.Tyr361Phe)
NM_005476.7(GNE):c.1097C>A (p.Ala366Asp)	rs1442235130
NM_005476.7(GNE):c.1124A>C (p.Lys375Thr)	rs1828924556
NM_005476.7(GNE):c.1124A>T (p.Lys375Ile)
NM_005476.7(GNE):c.1126T>C (p.Ser376Pro)	rs1554659760
NM_005476.7(GNE):c.1127C>T (p.Ser376Phe)
NM_005476.7(GNE):c.112T>C (p.Phe38Leu)
NM_005476.7(GNE):c.1134T>A (p.Asp378Glu)
NM_005476.7(GNE):c.114C>G (p.Phe38Leu)	rs921673560
NM_005476.7(GNE):c.1158A>T (p.Lys386Asn)	rs1828920194
NM_005476.7(GNE):c.1162T>C (p.Cys388Arg)	rs2133041837
NM_005476.7(GNE):c.1165T>C (p.Phe389Leu)
NM_005476.7(GNE):c.1185T>A (p.Asn395Lys)
NM_005476.7(GNE):c.118G>A (p.Glu40Lys)
NM_005476.7(GNE):c.1220T>C (p.Leu407Pro)
NM_005476.7(GNE):c.1231G>C (p.Ala411Pro)
NM_005476.7(GNE):c.1235T>C (p.Val412Ala)
NM_005476.7(GNE):c.1264G>A (p.Ala422Thr)	rs1828910974
NM_005476.7(GNE):c.1264G>C (p.Ala422Pro)
NM_005476.7(GNE):c.1276A>G (p.Met426Val)	rs750404513
NM_005476.7(GNE):c.1277T>C (p.Met426Thr)
NM_005476.7(GNE):c.1281G>A (p.Lys427=)	rs1554659670
NM_005476.7(GNE):c.1282-17_1282-16insGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-18_1282-17insCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-3_1282-2insGTTGTTTTCTCTTTTTTTTTTATTAGGGGGGTCTGGGGGTGGGGCGGGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282-7_1282-6insGTTGTTTTCTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCGGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGG
NM_005476.7(GNE):c.1282G>A (p.Gly428Ser)	rs767409392
NM_005476.7(GNE):c.1285G>A (p.Glu429Lys)	rs1828703850
NM_005476.7(GNE):c.1304C>T (p.Thr435Ile)	rs1563930778
NM_005476.7(GNE):c.1312A>G (p.Asn438Asp)	rs2133024785
NM_005476.7(GNE):c.1332G>C (p.Glu444Asp)	rs1554659040
NM_005476.7(GNE):c.1345A>G (p.Ile449Val)
NM_005476.7(GNE):c.1361T>C (p.Val454Ala)	rs2133024315
NM_005476.7(GNE):c.1369G>A (p.Ala457Thr)	rs2133024204
NM_005476.7(GNE):c.1373C>T (p.Ala458Val)
NM_005476.7(GNE):c.1377A>C (p.Glu459Asp)
NM_005476.7(GNE):c.1387C>G (p.Leu463Val)
NM_005476.7(GNE):c.1411G>A (p.Gly471Ser)	rs2133023974
NM_005476.7(GNE):c.1414A>G (p.Ile472Val)
NM_005476.7(GNE):c.1426G>A (p.Gly476Ser)	rs2133022363
NM_005476.7(GNE):c.1427G>T (p.Gly476Val)	rs1828675355
NM_005476.7(GNE):c.1441C>T (p.Arg481Trp)
NM_005476.7(GNE):c.1447G>A (p.Gly483Arg)	rs2133022218
NM_005476.7(GNE):c.1460A>G (p.His487Arg)
NM_005476.7(GNE):c.1466C>T (p.Thr489Ile)
NM_005476.7(GNE):c.1475T>A (p.Ile492Asn)	rs1563930321
NM_005476.7(GNE):c.1476C>G (p.Ile492Met)
NM_005476.7(GNE):c.1479A>C (p.Gln493His)
NM_005476.7(GNE):c.1508C>G (p.Pro503Arg)
NM_005476.7(GNE):c.1510C>G (p.Leu504Val)
NM_005476.7(GNE):c.1520C>T (p.Thr507Ile)
NM_005476.7(GNE):c.1532_1533delinsAA (p.Pro511Gln)	rs1828666773
NM_005476.7(GNE):c.1534G>T (p.Val512Leu)	rs1279384333
NM_005476.7(GNE):c.1546A>C (p.Asn516His)	rs1563930141
NM_005476.7(GNE):c.1564G>T (p.Ala522Ser)	rs2133021306
NM_005476.7(GNE):c.1565C>T (p.Ala522Val)	rs1563930123
NM_005476.7(GNE):c.1567C>A (p.Leu523Met)	rs1554658905
NM_005476.7(GNE):c.1594A>G (p.Lys532Glu)
NM_005476.7(GNE):c.1613T>C (p.Val538Ala)
NM_005476.7(GNE):c.1632A>G (p.Thr544=)	rs2133020714
NM_005476.7(GNE):c.1633+6_1633+7del	rs764024703
NM_005476.7(GNE):c.1633G>A (p.Gly545Arg)	rs1024068004
NM_005476.7(GNE):c.1634-13T>G
NM_005476.7(GNE):c.1634-3T>C	rs2133007346
NM_005476.7(GNE):c.1639G>A (p.Gly547Ser)	rs1306768272
NM_005476.7(GNE):c.1655A>G (p.His552Arg)
NM_005476.7(GNE):c.1664A>C (p.Glu555Ala)
NM_005476.7(GNE):c.1678A>C (p.Ser560Arg)
NM_005476.7(GNE):c.1684T>G (p.Phe562Val)
NM_005476.7(GNE):c.1703G>C (p.Gly568Ala)	rs1419793175
NM_005476.7(GNE):c.1708C>G (p.Leu570Val)
NM_005476.7(GNE):c.1717T>A (p.Ser573Thr)	rs2133006773
NM_005476.7(GNE):c.1723G>C (p.Asp575His)
NM_005476.7(GNE):c.172T>C (p.Tyr58His)
NM_005476.7(GNE):c.1730C>G (p.Pro577Arg)	rs1828512489
NM_005476.7(GNE):c.1732G>C (p.Asp578His)
NM_005476.7(GNE):c.1759A>G (p.Ile587Val)
NM_005476.7(GNE):c.1762G>A (p.Glu588Lys)	rs2133006485
NM_005476.7(GNE):c.176G>A (p.Arg59Gln)	rs1829880006
NM_005476.7(GNE):c.1775_1786del (p.Ser592_Ala595del)	rs1828507134
NM_005476.7(GNE):c.1804A>C (p.Lys602Gln)	rs2133006002
NM_005476.7(GNE):c.1816+3_1816+6del	rs1828502461
NM_005476.7(GNE):c.1816+4G>T
NM_005476.7(GNE):c.1831G>A (p.Val611Met)	rs2132997717
NM_005476.7(GNE):c.1858G>A (p.Glu620Lys)
NM_005476.7(GNE):c.185A>C (p.Glu62Ala)	rs2133114144
NM_005476.7(GNE):c.1882A>C (p.Ile628Leu)
NM_005476.7(GNE):c.1897C>A (p.Leu633Ile)
NM_005476.7(GNE):c.190G>C (p.Asp64His)	rs2133114110
NM_005476.7(GNE):c.1911G>T (p.Lys637Asn)
NM_005476.7(GNE):c.1921A>G (p.Ile641Val)	rs2132996877
NM_005476.7(GNE):c.1937G>C (p.Gly646Ala)	rs1291163446
NM_005476.7(GNE):c.1949G>A (p.Gly650Asp)	rs1299435942
NM_005476.7(GNE):c.1982A>G (p.Asn661Ser)	rs765173992
NM_005476.7(GNE):c.1985C>T (p.Pro662Leu)
NM_005476.7(GNE):c.2024A>G (p.Tyr675Cys)
NM_005476.7(GNE):c.2033T>C (p.Ile678Thr)
NM_005476.7(GNE):c.2038A>G (p.Lys680Glu)
NM_005476.7(GNE):c.2050C>A (p.Arg684Ser)	rs139347806
NM_005476.7(GNE):c.2050C>T (p.Arg684Cys)	rs139347806
NM_005476.7(GNE):c.2051G>A (p.Arg684His)
NM_005476.7(GNE):c.2066C>T (p.Ser689Phe)
NM_005476.7(GNE):c.2080G>A (p.Val694Met)
NM_005476.7(GNE):c.2086G>T (p.Val696Leu)	rs121908627
NM_005476.7(GNE):c.208A>G (p.Thr70Ala)
NM_005476.7(GNE):c.2093T>C (p.Val698Ala)	rs1587270856
NM_005476.7(GNE):c.2095T>A (p.Ser699Thr)	rs1828371895
NM_005476.7(GNE):c.2105T>A (p.Val702Asp)
NM_005476.7(GNE):c.2109C>A (p.Asp703Glu)
NM_005476.7(GNE):c.2129C>T (p.Ala710Val)
NM_005476.7(GNE):c.212G>A (p.Arg71Lys)
NM_005476.7(GNE):c.2150C>G (p.Thr717Arg)
NM_005476.7(GNE):c.225_227del (p.Ile75_Val76delinsMet)	rs1156580753
NM_005476.7(GNE):c.238G>T (p.Asp80Tyr)
NM_005476.7(GNE):c.247G>A (p.Ala83Thr)	rs1482972274
NM_005476.7(GNE):c.253G>A (p.Val85Met)
NM_005476.7(GNE):c.257A>C (p.Glu86Ala)	rs2133113605
NM_005476.7(GNE):c.265G>A (p.Gly89Ser)	rs1829875828
NM_005476.7(GNE):c.29T>C (p.Leu10Pro)	rs1830024227
NM_005476.7(GNE):c.323T>C (p.Ile108Thr)	rs2133113113
NM_005476.7(GNE):c.325G>A (p.Val109Ile)	rs2133113097
NM_005476.7(GNE):c.329A>G (p.His110Arg)	rs886043739
NM_005476.7(GNE):c.350T>C (p.Leu117Pro)
NM_005476.7(GNE):c.385C>G (p.Arg129Gly)
NM_005476.7(GNE):c.425T>C (p.Ile142Thr)	rs1829868500
NM_005476.7(GNE):c.428A>G (p.Asp143Gly)
NM_005476.7(GNE):c.436A>G (p.Ile146Val)	rs2133112591
NM_005476.7(GNE):c.43G>A (p.Ala15Thr)	rs2133126317
NM_005476.7(GNE):c.443A>G (p.His148Arg)
NM_005476.7(GNE):c.467A>G (p.Tyr156Cys)	rs2133112366
NM_005476.7(GNE):c.469C>A (p.His157Asn)	rs1587339749
NM_005476.7(GNE):c.46A>G (p.Thr16Ala)
NM_005476.7(GNE):c.501C>A (p.His167Gln)	rs1554663342
NM_005476.7(GNE):c.512T>C (p.Met171Thr)
NM_005476.7(GNE):c.548G>C (p.Cys183Ser)
NM_005476.7(GNE):c.55C>T (p.Arg19Cys)
NM_005476.7(GNE):c.574G>A (p.Ala192Thr)
NM_005476.7(GNE):c.581A>G (p.Asn194Ser)
NM_005476.7(GNE):c.586G>C (p.Asp196His)	rs2133111701
NM_005476.7(GNE):c.597C>A (p.Ser199Arg)
NM_005476.7(GNE):c.602T>A (p.Ile201Asn)	rs1829857314
NM_005476.7(GNE):c.605G>A (p.Arg202His)
NM_005476.7(GNE):c.607A>G (p.Met203Val)	rs1269845468
NM_005476.7(GNE):c.616+3A>G
NM_005476.7(GNE):c.616+4C>T
NM_005476.7(GNE):c.616+5G>A
NM_005476.7(GNE):c.617G>A (p.Gly206Asp)
NM_005476.7(GNE):c.623A>C (p.Asp208Ala)
NM_005476.7(GNE):c.638A>T (p.Asp213Val)	rs1554661565
NM_005476.7(GNE):c.688A>G (p.Ile230Val)
NM_005476.7(GNE):c.695T>C (p.Met232Thr)	rs761468890
NM_005476.7(GNE):c.721A>C (p.Ile241Leu)	rs763729254
NM_005476.7(GNE):c.734A>C (p.Lys245Thr)
NM_005476.7(GNE):c.737G>T (p.Arg246Leu)	rs121908629
NM_005476.7(GNE):c.73C>T (p.Leu25Phe)	rs373398528
NM_005476.7(GNE):c.749T>A (p.Leu250Gln)
NM_005476.7(GNE):c.769+3dup	rs756817842
NM_005476.7(GNE):c.76_77delinsTT (p.Ala26Phe)
NM_005476.7(GNE):c.788G>A (p.Arg263Gln)
NM_005476.7(GNE):c.794T>C (p.Met265Thr)	rs2133068813
NM_005476.7(GNE):c.795G>T (p.Met265Ile)	rs1829295633
NM_005476.7(GNE):c.820C>G (p.Pro274Ala)
NM_005476.7(GNE):c.830G>A (p.Arg277His)
NM_005476.7(GNE):c.844G>A (p.Val282Ile)
NM_005476.7(GNE):c.851T>C (p.Phe284Ser)	rs1563938450
NM_005476.7(GNE):c.85A>G (p.Met29Val)	rs1830021401
NM_005476.7(GNE):c.862A>G (p.Ile288Val)
NM_005476.7(GNE):c.884G>C (p.Gly295Ala)
NM_005476.7(GNE):c.884G>T (p.Gly295Val)
NM_005476.7(GNE):c.887G>A (p.Cys296Tyr)
NM_005476.7(GNE):c.934G>A (p.Gly312Arg)
NM_005476.7(GNE):c.952C>G (p.Leu318Val)	rs1554661032
NM_005476.7(GNE):c.965A>G (p.Gln322Arg)	rs2133067920
NM_005476.7(GNE):c.976G>A (p.Glu326Lys)	rs2133067896
NM_005476.7(GNE):c.980C>T (p.Thr327Ile)
NM_005476.7(GNE):c.982+3del	rs1587313110
NM_005476.7(GNE):c.982+6T>C	rs2133067848
NM_005476.7(GNE):c.994C>A (p.Leu332Ile)	rs2133049738
NM_012434.5(SLC17A5):c.1087G>A (p.Val363Ile)	rs2150091513
NM_012434.5(SLC17A5):c.10C>G (p.Pro4Ala)
NM_012434.5(SLC17A5):c.1141G>C (p.Ala381Pro)
NM_012434.5(SLC17A5):c.1153A>G (p.Ile385Val)
NM_012434.5(SLC17A5):c.1201A>G (p.Thr401Ala)
NM_012434.5(SLC17A5):c.1202C>T (p.Thr401Ile)
NM_012434.5(SLC17A5):c.1250T>C (p.Ile417Thr)
NM_012434.5(SLC17A5):c.1259+3G>A
NM_012434.5(SLC17A5):c.1260G>C (p.Ser420=)	rs760766672
NM_012434.5(SLC17A5):c.127G>A (p.Ala43Thr)	rs545973
NM_012434.5(SLC17A5):c.130A>G (p.Ile44Val)
NM_012434.5(SLC17A5):c.1349A>G (p.Asp450Gly)
NM_012434.5(SLC17A5):c.1352A>G (p.Asn451Ser)
NM_012434.5(SLC17A5):c.1355C>G (p.Thr452Ser)
NM_012434.5(SLC17A5):c.1369C>T (p.Gln457Ter)
NM_012434.5(SLC17A5):c.1375G>A (p.Val459Met)
NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu)
NM_012434.5(SLC17A5):c.1462_1464del (p.Asn488del)
NM_012434.5(SLC17A5):c.197A>G (p.Asp66Gly)
NM_012434.5(SLC17A5):c.229A>G (p.Asn77Asp)
NM_012434.5(SLC17A5):c.22C>G (p.Leu8Val)
NM_012434.5(SLC17A5):c.233G>C (p.Arg78Thr)
NM_012434.5(SLC17A5):c.262G>C (p.Ala88Pro)
NM_012434.5(SLC17A5):c.266C>A (p.Pro89His)
NM_012434.5(SLC17A5):c.275T>C (p.Val92Ala)	rs2150120727
NM_012434.5(SLC17A5):c.290C>T (p.Thr97Met)
NM_012434.5(SLC17A5):c.310G>A (p.Asp104Asn)	rs2150118480
NM_012434.5(SLC17A5):c.35A>G (p.Asp12Gly)
NM_012434.5(SLC17A5):c.36T>A (p.Asp12Glu)
NM_012434.5(SLC17A5):c.373C>T (p.Pro125Ser)
NM_012434.5(SLC17A5):c.388G>A (p.Ala130Thr)	rs201070520
NM_012434.5(SLC17A5):c.401G>T (p.Gly134Val)
NM_012434.5(SLC17A5):c.413T>C (p.Leu138Pro)
NM_012434.5(SLC17A5):c.421T>C (p.Phe141Leu)
NM_012434.5(SLC17A5):c.494T>C (p.Ile165Thr)
NM_012434.5(SLC17A5):c.505G>C (p.Ala169Pro)
NM_012434.5(SLC17A5):c.50C>T (p.Thr17Met)	rs2150128046
NM_012434.5(SLC17A5):c.512_514del (p.Glu171del)	rs2150118267
NM_012434.5(SLC17A5):c.525+3A>G
NM_012434.5(SLC17A5):c.544A>T (p.Met182Leu)	rs1454840237
NM_012434.5(SLC17A5):c.55C>T (p.Arg19Cys)
NM_012434.5(SLC17A5):c.578T>C (p.Leu193Pro)
NM_012434.5(SLC17A5):c.586A>G (p.Ser196Gly)
NM_012434.5(SLC17A5):c.590A>G (p.Lys197Arg)
NM_012434.5(SLC17A5):c.680C>A (p.Thr227Asn)
NM_012434.5(SLC17A5):c.680C>G (p.Thr227Ser)	rs2150113556
NM_012434.5(SLC17A5):c.758A>G (p.Gln253Arg)
NM_012434.5(SLC17A5):c.760A>G (p.Lys254Glu)
NM_012434.5(SLC17A5):c.776C>T (p.Ser259Phe)	rs149340734
NM_012434.5(SLC17A5):c.818A>G (p.Gln273Arg)	rs761959120
NM_012434.5(SLC17A5):c.880A>C (p.Ile294Leu)

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