ClinVar Miner

List of variants in gene SPRED1 reported by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 321
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HGVS dbSNP gnomAD frequency
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82455
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00188
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_152594.3(SPRED1):c.702C>G (p.Ile234Met) rs138553244 0.00074
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618 0.00042
NM_152594.3(SPRED1):c.944C>T (p.Pro315Leu) rs115440602 0.00029
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_152594.3(SPRED1):c.376+3A>T rs775985211 0.00014
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772 0.00011
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val) rs200157475 0.00010
NM_152594.3(SPRED1):c.1192G>A (p.Asp398Asn) rs771480941 0.00009
NM_152594.3(SPRED1):c.177T>C (p.Phe59=) rs397517871 0.00009
NM_152594.3(SPRED1):c.1202G>T (p.Cys401Phe) rs779058019 0.00008
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_152594.3(SPRED1):c.1283G>A (p.Arg428His) rs369492789 0.00006
NM_152594.3(SPRED1):c.640C>T (p.Arg214Trp) rs376699107 0.00006
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile) rs373477920 0.00005
NM_152594.3(SPRED1):c.1176G>A (p.Ser392=) rs755223172 0.00005
NM_152594.3(SPRED1):c.1260C>T (p.Tyr420=) rs202087411 0.00004
NM_152594.3(SPRED1):c.1295C>T (p.Ala432Val) rs200871227 0.00004
NM_152594.3(SPRED1):c.563T>C (p.Met188Thr) rs370735097 0.00004
NM_152594.3(SPRED1):c.594T>C (p.Gly198=) rs756643495 0.00004
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile) rs769630742 0.00004
NM_152594.3(SPRED1):c.842A>G (p.Gln281Arg) rs1427402192 0.00004
NM_152594.3(SPRED1):c.886T>C (p.Cys296Arg) rs554327738 0.00004
NM_152594.3(SPRED1):c.-2A>T rs773950720 0.00003
NM_152594.3(SPRED1):c.1078A>G (p.Lys360Glu) rs374685699 0.00003
NM_152594.3(SPRED1):c.1225G>T (p.Ala409Ser) rs762735151 0.00003
NM_152594.3(SPRED1):c.1226C>T (p.Ala409Val) rs751260227 0.00003
NM_152594.3(SPRED1):c.306G>A (p.Thr102=) rs372791883 0.00003
NM_152594.3(SPRED1):c.371C>T (p.Ser124Phe) rs760132893 0.00003
NM_152594.3(SPRED1):c.385G>A (p.Glu129Lys) rs764823722 0.00003
NM_152594.3(SPRED1):c.401C>G (p.Ala134Gly) rs762633609 0.00003
NM_152594.3(SPRED1):c.42T>C (p.Tyr14=) rs764234046 0.00003
NM_152594.3(SPRED1):c.438T>C (p.Asp146=) rs757357920 0.00003
NM_152594.3(SPRED1):c.645A>C (p.Gln215His) rs144227155 0.00003
NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn) rs904563789 0.00003
NM_152594.3(SPRED1):c.864A>C (p.Lys288Asn) rs777379558 0.00003
NM_152594.3(SPRED1):c.887G>A (p.Cys296Tyr) rs200974459 0.00003
NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys) rs765603808 0.00002
NM_152594.3(SPRED1):c.1005C>T (p.Cys335=) rs768937237 0.00002
NM_152594.3(SPRED1):c.1080A>G (p.Lys360=) rs749654043 0.00002
NM_152594.3(SPRED1):c.408G>T (p.Gly136=) rs765800186 0.00002
NM_152594.3(SPRED1):c.426A>G (p.Ala142=) rs753701682 0.00002
NM_152594.3(SPRED1):c.435G>A (p.Glu145=) rs1895992523 0.00002
NM_152594.3(SPRED1):c.576C>T (p.Ala192=) rs1356983128 0.00002
NM_152594.3(SPRED1):c.588A>T (p.Thr196=) rs2542739158 0.00002
NM_152594.3(SPRED1):c.633C>T (p.Tyr211=) rs149991304 0.00002
NM_152594.3(SPRED1):c.685G>A (p.Val229Ile) rs201837340 0.00002
NM_152594.3(SPRED1):c.687C>A (p.Val229=) rs376226762 0.00002
NM_152594.3(SPRED1):c.875A>G (p.Tyr292Cys) rs201933663 0.00002
NM_152594.3(SPRED1):c.879G>A (p.Leu293=) rs535687467 0.00002
NM_152594.3(SPRED1):c.1001G>A (p.Arg334His) rs146702985 0.00001
NM_152594.3(SPRED1):c.1041T>C (p.Asn347=) rs1426731737 0.00001
NM_152594.3(SPRED1):c.1045A>C (p.Arg349=) rs774835982 0.00001
NM_152594.3(SPRED1):c.1085G>A (p.Cys362Tyr) rs1255579349 0.00001
NM_152594.3(SPRED1):c.1146C>T (p.Asp382=) rs1286583801 0.00001
NM_152594.3(SPRED1):c.1186A>G (p.Ser396Gly) rs769959530 0.00001
NM_152594.3(SPRED1):c.1188C>T (p.Ser396=) rs773409045 0.00001
NM_152594.3(SPRED1):c.1191C>T (p.Asp397=) rs749745659 0.00001
NM_152594.3(SPRED1):c.1217C>T (p.Ala406Val) rs748390368 0.00001
NM_152594.3(SPRED1):c.123C>T (p.Ser41=) rs748759533 0.00001
NM_152594.3(SPRED1):c.1245A>G (p.Pro415=) rs934682906 0.00001
NM_152594.3(SPRED1):c.1278C>T (p.Cys426=) rs1313604330 0.00001
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val) rs746414913 0.00001
NM_152594.3(SPRED1):c.1307G>A (p.Cys436Tyr) rs772421738 0.00001
NM_152594.3(SPRED1):c.1313G>T (p.Gly438Val) rs573603750 0.00001
NM_152594.3(SPRED1):c.157A>G (p.Asn53Asp) rs1261567261 0.00001
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly) rs959758606 0.00001
NM_152594.3(SPRED1):c.183T>G (p.Arg61=) rs1297197855 0.00001
NM_152594.3(SPRED1):c.196A>C (p.Arg66=) rs751923342 0.00001
NM_152594.3(SPRED1):c.208-6T>C rs1241478218 0.00001
NM_152594.3(SPRED1):c.21T>A (p.Thr7=) rs1220734936 0.00001
NM_152594.3(SPRED1):c.27C>T (p.Asp9=) rs727504717 0.00001
NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp) rs779189071 0.00001
NM_152594.3(SPRED1):c.321T>C (p.Ala107=) rs770197803 0.00001
NM_152594.3(SPRED1):c.353G>A (p.Arg118Lys) rs373381933 0.00001
NM_152594.3(SPRED1):c.384C>T (p.Pro128=) rs761058615 0.00001
NM_152594.3(SPRED1):c.386A>T (p.Glu129Val) rs1230768530 0.00001
NM_152594.3(SPRED1):c.455T>C (p.Val152Ala) rs1895993159 0.00001
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941 0.00001
NM_152594.3(SPRED1):c.511T>C (p.Ser171Pro) rs376527959 0.00001
NM_152594.3(SPRED1):c.515A>C (p.Asn172Thr) rs1462787485 0.00001
NM_152594.3(SPRED1):c.517A>G (p.Ile173Val) rs1060502504 0.00001
NM_152594.3(SPRED1):c.519A>G (p.Ile173Met) rs532147114 0.00001
NM_152594.3(SPRED1):c.527C>T (p.Ser176Phe) rs1895995078 0.00001
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys) rs143121426 0.00001
NM_152594.3(SPRED1):c.561C>T (p.Tyr187=) rs201335683 0.00001
NM_152594.3(SPRED1):c.56C>G (p.Ala19Gly) rs968982670 0.00001
NM_152594.3(SPRED1):c.570C>T (p.Ser190=) rs758617124 0.00001
NM_152594.3(SPRED1):c.578A>G (p.Asn193Ser) rs766431294 0.00001
NM_152594.3(SPRED1):c.607G>A (p.Asp203Asn) rs139897054 0.00001
NM_152594.3(SPRED1):c.60G>C (p.Val20=) rs367745143 0.00001
NM_152594.3(SPRED1):c.668T>A (p.Leu223Gln) rs990641041 0.00001
NM_152594.3(SPRED1):c.669A>G (p.Leu223=) rs774530752 0.00001
NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg) rs775693385 0.00001
NM_152594.3(SPRED1):c.707A>G (p.His236Arg) rs886051104 0.00001
NM_152594.3(SPRED1):c.807T>G (p.Asn269Lys) rs886041428 0.00001
NM_152594.3(SPRED1):c.829G>A (p.Asp277Asn) rs1043239392 0.00001
NM_152594.3(SPRED1):c.860G>A (p.Ser287Asn) rs2542742811 0.00001
NM_152594.3(SPRED1):c.888T>C (p.Cys296=) rs775556490 0.00001
NM_152594.3(SPRED1):c.892G>C (p.Asp298His) rs761001792 0.00001
NM_152594.3(SPRED1):c.913C>A (p.Pro305Thr) rs1448326986 0.00001
NM_152594.3(SPRED1):c.922T>G (p.Ser308Ala) rs765841849 0.00001
NM_152594.3(SPRED1):c.951A>T (p.Ser317=) rs899712805 0.00001
NM_152594.3(SPRED1):c.954A>G (p.Leu318=) rs753357510 0.00001
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter) rs1057518683 0.00001
NM_152594.3(SPRED1):c.982G>A (p.Glu328Lys) rs1352455265 0.00001
NM_152594.3(SPRED1):c.986A>G (p.Asp329Gly) rs1320937319 0.00001
NM_152594.3(SPRED1):c.990T>G (p.Gly330=) rs1184835258 0.00001
NM_152594.3(SPRED1):c.995G>A (p.Arg332His) rs779966392 0.00001
NM_152594.3(SPRED1):c.999T>C (p.Ser333=) rs1888480574 0.00001
NM_152594.3(SPRED1):c.1001G>C (p.Arg334Pro)
NM_152594.3(SPRED1):c.1006G>T (p.Val336Leu)
NM_152594.3(SPRED1):c.1015C>G (p.Gln339Glu)
NM_152594.3(SPRED1):c.1017G>T (p.Gln339His)
NM_152594.3(SPRED1):c.1021A>G (p.Arg341Gly)
NM_152594.3(SPRED1):c.1023G>C (p.Arg341Ser) rs1405547941
NM_152594.3(SPRED1):c.1037A>G (p.Glu346Gly)
NM_152594.3(SPRED1):c.1043T>G (p.Val348Gly)
NM_152594.3(SPRED1):c.1044_1045delinsCT (p.Arg349Trp) rs2542743687
NM_152594.3(SPRED1):c.1045A>T (p.Arg349Trp) rs774835982
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs) rs1566876941
NM_152594.3(SPRED1):c.1059G>A (p.Gln353=)
NM_152594.3(SPRED1):c.1060G>C (p.Asp354His)
NM_152594.3(SPRED1):c.1075_1076insAGTA (p.Ile359fs) rs2542743815
NM_152594.3(SPRED1):c.1076T>A (p.Ile359Asn) rs763738243
NM_152594.3(SPRED1):c.1096G>A (p.Val366Ile) rs372623722
NM_152594.3(SPRED1):c.109A>G (p.Ser37Gly)
NM_152594.3(SPRED1):c.1104C>G (p.Cys368Trp)
NM_152594.3(SPRED1):c.1110C>G (p.Leu370=) rs876657584
NM_152594.3(SPRED1):c.1110C>T (p.Leu370=) rs876657584
NM_152594.3(SPRED1):c.1112G>A (p.Cys371Tyr) rs1178736205
NM_152594.3(SPRED1):c.1143A>C (p.Ser381=) rs2542744054
NM_152594.3(SPRED1):c.1143A>G (p.Ser381=) rs2542744054
NM_152594.3(SPRED1):c.1147T>C (p.Ser383Pro) rs755208632
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.1158T>C (p.Asp386=) rs2141016567
NM_152594.3(SPRED1):c.115C>G (p.Leu39Val) rs1555389691
NM_152594.3(SPRED1):c.1161T>C (p.Phe387=)
NM_152594.3(SPRED1):c.1163C>T (p.Ser388Phe) rs1888487548
NM_152594.3(SPRED1):c.1167T>C (p.Asp389=)
NM_152594.3(SPRED1):c.1170C>T (p.Pro390=) rs781585106
NM_152594.3(SPRED1):c.1176G>T (p.Ser392=)
NM_152594.3(SPRED1):c.117A>G (p.Leu39=) rs2542660979
NM_152594.3(SPRED1):c.1185T>G (p.Thr395=) rs1888488292
NM_152594.3(SPRED1):c.1189G>A (p.Asp397Asn) rs1888488545
NM_152594.3(SPRED1):c.1192G>T (p.Asp398Tyr) rs771480941
NM_152594.3(SPRED1):c.1203C>T (p.Cys401=) rs2141016645
NM_152594.3(SPRED1):c.1206G>A (p.Leu402=) rs2542744281
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter) rs1888489281
NM_152594.3(SPRED1):c.1215A>G (p.Leu405=) rs1595764001
NM_152594.3(SPRED1):c.1216G>A (p.Ala406Thr) rs761520561
NM_152594.3(SPRED1):c.121A>T (p.Ser41Cys) rs1895108411
NM_152594.3(SPRED1):c.1221G>A (p.Leu407=)
NM_152594.3(SPRED1):c.1225G>A (p.Ala409Thr) rs762735151
NM_152594.3(SPRED1):c.122G>T (p.Ser41Ile)
NM_152594.3(SPRED1):c.1232C>G (p.Ser411Cys) rs2542744378
NM_152594.3(SPRED1):c.1242A>G (p.Val414=) rs904428917
NM_152594.3(SPRED1):c.1242A>T (p.Val414=)
NM_152594.3(SPRED1):c.1245A>T (p.Pro415=)
NM_152594.3(SPRED1):c.1246T>C (p.Cys416Arg) rs1888490204
NM_152594.3(SPRED1):c.126C>T (p.Val42=)
NM_152594.3(SPRED1):c.1274T>C (p.Met425Thr)
NM_152594.3(SPRED1):c.1277G>C (p.Cys426Ser)
NM_152594.3(SPRED1):c.1284C>T (p.Arg428=)
NM_152594.3(SPRED1):c.1287T>C (p.Cys429=) rs2542744613
NM_152594.3(SPRED1):c.1296A>G (p.Ala432=) rs2141016767
NM_152594.3(SPRED1):c.1302T>G (p.Gly434=)
NM_152594.3(SPRED1):c.1304G>T (p.Cys435Phe)
NM_152594.3(SPRED1):c.1313G>A (p.Gly438Glu)
NM_152594.3(SPRED1):c.1327G>C (p.Ala443Pro) rs2542744717
NM_152594.3(SPRED1):c.1330G>A (p.Gly444Arg) rs2542744729
NM_152594.3(SPRED1):c.151G>C (p.Glu51Gln)
NM_152594.3(SPRED1):c.15G>C (p.Thr5=) rs1278027767
NM_152594.3(SPRED1):c.160G>A (p.Gly54Ser)
NM_152594.3(SPRED1):c.167C>T (p.Ala56Val)
NM_152594.3(SPRED1):c.171C>T (p.Asp57=)
NM_152594.3(SPRED1):c.175T>C (p.Phe59Leu)
NM_152594.3(SPRED1):c.178A>G (p.Ile60Val) rs761830220
NM_152594.3(SPRED1):c.182G>T (p.Arg61Leu) rs750686148
NM_152594.3(SPRED1):c.186A>G (p.Gly62=)
NM_152594.3(SPRED1):c.189G>A (p.Glu63=)
NM_152594.3(SPRED1):c.189G>C (p.Glu63Asp) rs2140978555
NM_152594.3(SPRED1):c.197G>A (p.Arg66Lys)
NM_152594.3(SPRED1):c.233A>G (p.Lys78Arg) rs2542695495
NM_152594.3(SPRED1):c.234dup (p.Asp79fs) rs1566867209
NM_152594.3(SPRED1):c.238C>G (p.Leu80Val)
NM_152594.3(SPRED1):c.241A>G (p.Ile81Val) rs2542695537
NM_152594.3(SPRED1):c.242T>C (p.Ile81Thr) rs2542695547
NM_152594.3(SPRED1):c.246T>C (p.Tyr82=)
NM_152594.3(SPRED1):c.247A>G (p.Asn83Asp)
NM_152594.3(SPRED1):c.250A>G (p.Lys84Glu) rs2140994791
NM_152594.3(SPRED1):c.255C>T (p.Val85=) rs2542695581
NM_152594.3(SPRED1):c.28A>T (p.Asn10Tyr)
NM_152594.3(SPRED1):c.294G>A (p.Lys98=)
NM_152594.3(SPRED1):c.29A>G (p.Asn10Ser) rs1894018444
NM_152594.3(SPRED1):c.300T>C (p.Gly100=) rs1895620171
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152594.3(SPRED1):c.306G>C (p.Thr102=)
NM_152594.3(SPRED1):c.311A>G (p.Gln104Arg) rs748376033
NM_152594.3(SPRED1):c.327T>G (p.Ala109=) rs2542695850
NM_152594.3(SPRED1):c.333T>C (p.Ala111=)
NM_152594.3(SPRED1):c.339T>G (p.Asp113Glu)
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.365A>T (p.Asp122Val) rs2542695991
NM_152594.3(SPRED1):c.374A>G (p.Gln125Arg) rs2542696023
NM_152594.3(SPRED1):c.376+15C>A rs2542696071
NM_152594.3(SPRED1):c.379T>C (p.Cys127Arg)
NM_152594.3(SPRED1):c.381C>T (p.Cys127=) rs1285949702
NM_152594.3(SPRED1):c.387A>G (p.Glu129=)
NM_152594.3(SPRED1):c.388T>C (p.Ser130Pro) rs149883080
NM_152594.3(SPRED1):c.403G>C (p.Glu135Gln) rs1595748136
NM_152594.3(SPRED1):c.405A>G (p.Glu135=) rs778868909
NM_152594.3(SPRED1):c.409G>A (p.Ala137Thr)
NM_152594.3(SPRED1):c.412G>T (p.Asp138Tyr)
NM_152594.3(SPRED1):c.413A>G (p.Asp138Gly) rs751138842
NM_152594.3(SPRED1):c.43G>A (p.Ala15Thr) rs753924528
NM_152594.3(SPRED1):c.443C>A (p.Ser148Tyr)
NM_152594.3(SPRED1):c.447T>C (p.Ser149=) rs2542723600
NM_152594.3(SPRED1):c.451C>G (p.Leu151Val) rs750421037
NM_152594.3(SPRED1):c.451C>T (p.Leu151=)
NM_152594.3(SPRED1):c.456G>T (p.Val152=)
NM_152594.3(SPRED1):c.478G>A (p.Glu160Lys)
NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln) rs757726772
NM_152594.3(SPRED1):c.483A>G (p.Thr161=)
NM_152594.3(SPRED1):c.493dup (p.Ser165fs) rs1555392032
NM_152594.3(SPRED1):c.495T>G (p.Ser165Arg)
NM_152594.3(SPRED1):c.498G>C (p.Glu166Asp) rs770446191
NM_152594.3(SPRED1):c.504T>C (p.Tyr168=) rs1421357473
NM_152594.3(SPRED1):c.508A>G (p.Ser170Gly) rs1895994444
NM_152594.3(SPRED1):c.51G>A (p.Val17=) rs864622421
NM_152594.3(SPRED1):c.521G>T (p.Arg174Ile) rs2141007899
NM_152594.3(SPRED1):c.523C>A (p.Pro175Thr) rs2542723860
NM_152594.3(SPRED1):c.526_528del (p.Ser176del) rs763365429
NM_152594.3(SPRED1):c.52C>A (p.Arg18=) rs750777752
NM_152594.3(SPRED1):c.539A>T (p.Asp180Val)
NM_152594.3(SPRED1):c.53G>T (p.Arg18Leu) rs758855467
NM_152594.3(SPRED1):c.547G>A (p.Ala183Thr) rs1895995583
NM_152594.3(SPRED1):c.549C>T (p.Ala183=) rs2542723953
NM_152594.3(SPRED1):c.557T>C (p.Val186Ala)
NM_152594.3(SPRED1):c.55G>A (p.Ala19Thr)
NM_152594.3(SPRED1):c.565C>A (p.Gln189Lys) rs200142785
NM_152594.3(SPRED1):c.567A>T (p.Gln189His) rs764990934
NM_152594.3(SPRED1):c.573A>C (p.Gln191His)
NM_152594.3(SPRED1):c.584T>C (p.Ile195Thr)
NM_152594.3(SPRED1):c.591T>G (p.Phe197Leu)
NM_152594.3(SPRED1):c.592G>T (p.Gly198Cys) rs1296168587
NM_152594.3(SPRED1):c.593G>C (p.Gly198Ala) rs1186657394
NM_152594.3(SPRED1):c.599C>T (p.Pro200Leu) rs778144652
NM_152594.3(SPRED1):c.602G>T (p.Gly201Val) rs1896206860
NM_152594.3(SPRED1):c.614A>G (p.Gln205Arg) rs779879921
NM_152594.3(SPRED1):c.618C>G (p.Ser206Arg)
NM_152594.3(SPRED1):c.626T>C (p.Met209Thr)
NM_152594.3(SPRED1):c.631T>C (p.Tyr211His) rs1896207918
NM_152594.3(SPRED1):c.63G>A (p.Val21=)
NM_152594.3(SPRED1):c.642G>A (p.Arg214=) rs1896208639
NM_152594.3(SPRED1):c.659G>T (p.Cys220Phe)
NM_152594.3(SPRED1):c.660T>C (p.Cys220=)
NM_152594.3(SPRED1):c.660T>G (p.Cys220Trp)
NM_152594.3(SPRED1):c.663A>G (p.Gly221=)
NM_152594.3(SPRED1):c.666C>A (p.Ser222Arg) rs1896209442
NM_152594.3(SPRED1):c.667C>G (p.Leu223Val)
NM_152594.3(SPRED1):c.669A>C (p.Leu223=)
NM_152594.3(SPRED1):c.685G>T (p.Val229Phe) rs201837340
NM_152594.3(SPRED1):c.6C>G (p.Ser2Arg)
NM_152594.3(SPRED1):c.702C>T (p.Ile234=)
NM_152594.3(SPRED1):c.703A>C (p.Arg235=) rs1177047281
NM_152594.3(SPRED1):c.705A>G (p.Arg235=)
NM_152594.3(SPRED1):c.713G>T (p.Ser238Ile)
NM_152594.3(SPRED1):c.71G>A (p.Arg24Gln) rs1057518150
NM_152594.3(SPRED1):c.721G>C (p.Asp241His) rs1888472164
NM_152594.3(SPRED1):c.724G>A (p.Glu242Lys)
NM_152594.3(SPRED1):c.727G>A (p.Asp243Asn)
NM_152594.3(SPRED1):c.758T>G (p.Ile253Ser) rs1187107780
NM_152594.3(SPRED1):c.759C>T (p.Ile253=)
NM_152594.3(SPRED1):c.765A>G (p.Ile255Met)
NM_152594.3(SPRED1):c.770G>A (p.Arg257His) rs750832911
NM_152594.3(SPRED1):c.770G>T (p.Arg257Leu) rs750832911
NM_152594.3(SPRED1):c.790delinsAA (p.Pro264fs) rs2542742614
NM_152594.3(SPRED1):c.796A>T (p.Met266Leu) rs1340143366
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.798G>C (p.Met266Ile)
NM_152594.3(SPRED1):c.811T>C (p.Leu271=)
NM_152594.3(SPRED1):c.814G>C (p.Glu272Gln)
NM_152594.3(SPRED1):c.816A>G (p.Glu272=)
NM_152594.3(SPRED1):c.820G>A (p.Asp274Asn)
NM_152594.3(SPRED1):c.826G>A (p.Ala276Thr) rs1270752951
NM_152594.3(SPRED1):c.82A>G (p.Ser28Gly) rs2140978422
NM_152594.3(SPRED1):c.831T>C (p.Asp277=)
NM_152594.3(SPRED1):c.833C>G (p.Ser278Cys)
NM_152594.3(SPRED1):c.838A>G (p.Ile280Val)
NM_152594.3(SPRED1):c.843G>C (p.Gln281His)
NM_152594.3(SPRED1):c.853C>G (p.Pro285Ala)
NM_152594.3(SPRED1):c.862A>G (p.Lys288Glu)
NM_152594.3(SPRED1):c.866A>T (p.Lys289Ile)
NM_152594.3(SPRED1):c.874T>C (p.Tyr292His)
NM_152594.3(SPRED1):c.877C>G (p.Leu293Val) rs1888476201
NM_152594.3(SPRED1):c.885T>C (p.Ser295=) rs1888476496
NM_152594.3(SPRED1):c.897G>A (p.Glu299=)
NM_152594.3(SPRED1):c.897G>T (p.Glu299Asp)
NM_152594.3(SPRED1):c.898A>G (p.Thr300Ala) rs1888477050
NM_152594.3(SPRED1):c.8A>T (p.Glu3Val)
NM_152594.3(SPRED1):c.90A>C (p.Gly30=) rs2542660900
NM_152594.3(SPRED1):c.912A>G (p.Ser304=) rs2141016283
NM_152594.3(SPRED1):c.914C>A (p.Pro305His)
NM_152594.3(SPRED1):c.914C>T (p.Pro305Leu)
NM_152594.3(SPRED1):c.92G>C (p.Trp31Ser)
NM_152594.3(SPRED1):c.930A>T (p.Val310=)
NM_152594.3(SPRED1):c.939G>T (p.Thr313=) rs140644874
NM_152594.3(SPRED1):c.941A>C (p.Gln314Pro)
NM_152594.3(SPRED1):c.965A>C (p.Lys322Thr)
NM_152594.3(SPRED1):c.966G>T (p.Lys322Asn)
NM_152594.3(SPRED1):c.972A>G (p.Lys324=)
NM_152594.3(SPRED1):c.984G>A (p.Glu328=) rs2542743358
NM_152594.3(SPRED1):c.985G>A (p.Asp329Asn)
NM_152594.3(SPRED1):c.986A>T (p.Asp329Val)
NM_152594.3(SPRED1):c.989G>A (p.Gly330Asp) rs1461391044
NM_152594.3(SPRED1):c.98C>T (p.Pro33Leu)

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