ClinVar Miner

List of variants in gene ACD reported as likely benign for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 359
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HGVS dbSNP gnomAD frequency
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu) rs147189192 0.00679
NM_001082486.2(ACD):c.801C>T (p.Ala267=) rs72549181 0.00530
NM_001082486.1(ACD):c.162C>T (p.Pro54=) rs73597595 0.00508
NM_001082486.2(ACD):c.819C>T (p.Pro273=) rs138740815 0.00237
NM_001082486.2(ACD):c.1336C>T (p.Leu446=) rs1050346 0.00169
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794 0.00102
NM_001082486.2(ACD):c.444C>T (p.Leu148=) rs151132164 0.00096
NM_001082486.2(ACD):c.1152G>A (p.Pro384=) rs147116458 0.00019
NM_001082486.2(ACD):c.879C>T (p.Ser293=) rs369069351 0.00017
NM_001082486.2(ACD):c.837G>A (p.Pro279=) rs201965477 0.00015
NM_001082486.2(ACD):c.846C>T (p.Pro282=) rs199856965 0.00013
NM_001082486.2(ACD):c.1148G>A (p.Arg383Gln) rs200293827 0.00009
NM_001082486.2(ACD):c.1168G>A (p.Gly390Arg) rs553014261 0.00005
NC_000016.10:g.67660470G>C rs201685459 0.00004
NM_001082486.2(ACD):c.1004G>A (p.Arg335His) rs774558672 0.00004
NM_001082486.2(ACD):c.513T>G (p.Leu171=) rs755523137 0.00004
NM_001082486.2(ACD):c.861C>T (p.Ser287=) rs751515020 0.00004
NM_001082486.2(ACD):c.873T>A (p.Gly291=) rs1011399056 0.00004
NC_000016.10:g.67660452G>A rs780167082 0.00003
NM_001082486.2(ACD):c.1017C>T (p.Ser339=) rs769298187 0.00003
NM_001082486.2(ACD):c.1269G>A (p.Thr423=) rs751284994 0.00003
NM_001082486.2(ACD):c.1283G>A (p.Arg428Gln) rs1397584716 0.00003
NM_001082486.2(ACD):c.255G>A (p.Glu85=) rs146942923 0.00003
NM_001082486.2(ACD):c.28C>A (p.Arg10=) rs775787415 0.00003
NM_001082486.2(ACD):c.799G>T (p.Ala267Ser) rs775607009 0.00003
NM_001082486.2(ACD):c.891G>A (p.Leu297=) rs1459307216 0.00003
NM_001082486.2(ACD):c.981C>T (p.Thr327=) rs758239452 0.00003
NM_001082486.2(ACD):c.996C>T (p.His332=) rs560864093 0.00003
NM_001082486.2(ACD):c.159C>T (p.Asp53=) rs761226246 0.00002
NM_001082486.2(ACD):c.591C>T (p.Gly197=) rs376086019 0.00002
NM_001082486.2(ACD):c.642C>T (p.Ala214=) rs375866577 0.00002
NM_001082486.2(ACD):c.696T>C (p.Asn232=) rs544679646 0.00002
NM_001082486.2(ACD):c.847G>A (p.Gly283Ser) rs1260047390 0.00002
NC_000016.10:g.67660278C>G rs1327141871 0.00001
NC_000016.10:g.67660305C>T rs780457506 0.00001
NM_001082486.1(ACD):c.160C>T (p.Pro54Ser) rs1258515164 0.00001
NM_001082486.1(ACD):c.216G>C (p.Ala72=) rs759493487 0.00001
NM_001082486.2(ACD):c.-18C>T rs1567642799 0.00001
NM_001082486.2(ACD):c.-1G>C rs1432567553 0.00001
NM_001082486.2(ACD):c.-31C>G rs775903443 0.00001
NM_001082486.2(ACD):c.-37C>T rs1377497479 0.00001
NM_001082486.2(ACD):c.-7C>G rs999681254 0.00001
NM_001082486.2(ACD):c.1002C>T (p.Ser334=) rs372195324 0.00001
NM_001082486.2(ACD):c.1013G>A (p.Ser338Asn) rs368783801 0.00001
NM_001082486.2(ACD):c.1014C>T (p.Ser338=) rs763436044 0.00001
NM_001082486.2(ACD):c.1023C>G (p.Leu341=) rs1411501589 0.00001
NM_001082486.2(ACD):c.1032C>T (p.Cys344=) rs776364958 0.00001
NM_001082486.2(ACD):c.1038C>T (p.Pro346=) rs575100400 0.00001
NM_001082486.2(ACD):c.1056C>T (p.Ser352=) rs200227116 0.00001
NM_001082486.2(ACD):c.1074C>T (p.His358=) rs752017845 0.00001
NM_001082486.2(ACD):c.1089C>T (p.Thr363=) rs1414641852 0.00001
NM_001082486.2(ACD):c.1095C>T (p.Pro365=) rs763236702 0.00001
NM_001082486.2(ACD):c.1108C>T (p.Leu370=) rs759092195 0.00001
NM_001082486.2(ACD):c.1119G>A (p.Lys373=) rs760234154 0.00001
NM_001082486.2(ACD):c.1147C>T (p.Arg383Trp) rs747913250 0.00001
NM_001082486.2(ACD):c.114C>G (p.Ala38=) rs756189227 0.00001
NM_001082486.2(ACD):c.1158T>C (p.Phe386=) rs1371779126 0.00001
NM_001082486.2(ACD):c.1167C>T (p.Thr389=) rs370757729 0.00001
NM_001082486.2(ACD):c.1192C>T (p.Pro398Ser) rs2543598088 0.00001
NM_001082486.2(ACD):c.1224T>C (p.His408=) rs1198341322 0.00001
NM_001082486.2(ACD):c.1314C>T (p.Leu438=) rs528476326 0.00001
NM_001082486.2(ACD):c.1320C>T (p.Ala440=) rs765091780 0.00001
NM_001082486.2(ACD):c.140A>G (p.His47Arg) rs1235862680 0.00001
NM_001082486.2(ACD):c.151A>G (p.Thr51Ala) rs1258986215 0.00001
NM_001082486.2(ACD):c.15G>T (p.Gly5=) rs1032620777 0.00001
NM_001082486.2(ACD):c.168C>T (p.Ala56=) rs761408466 0.00001
NM_001082486.2(ACD):c.186C>T (p.Asp62=) rs998982026 0.00001
NM_001082486.2(ACD):c.210G>A (p.Leu70=) rs1351964633 0.00001
NM_001082486.2(ACD):c.252G>A (p.Lys84=) rs781404876 0.00001
NM_001082486.2(ACD):c.261C>A (p.Gly87=) rs752019137 0.00001
NM_001082486.2(ACD):c.264C>T (p.Phe88=) rs764626146 0.00001
NM_001082486.2(ACD):c.27A>C (p.Leu9=) rs1344221000 0.00001
NM_001082486.2(ACD):c.300C>T (p.Asp100=) rs1160720460 0.00001
NM_001082486.2(ACD):c.312T>C (p.His104=) rs1384900441 0.00001
NM_001082486.2(ACD):c.330C>A (p.Gly110=) rs1214995325 0.00001
NM_001082486.2(ACD):c.369C>T (p.Phe123=) rs1011064739 0.00001
NM_001082486.2(ACD):c.373C>T (p.Leu125=) rs2052957597 0.00001
NM_001082486.2(ACD):c.441G>A (p.Lys147=) rs2052951368 0.00001
NM_001082486.2(ACD):c.480C>T (p.Thr160=) rs2543605419 0.00001
NM_001082486.2(ACD):c.483G>A (p.Ser161=) rs746663656 0.00001
NM_001082486.2(ACD):c.486C>T (p.Ser162=) rs777238079 0.00001
NM_001082486.2(ACD):c.496C>T (p.Leu166=) rs1476888653 0.00001
NM_001082486.2(ACD):c.504G>A (p.Leu168=) rs1270632817 0.00001
NM_001082486.2(ACD):c.555C>G (p.Leu185=) rs745443998 0.00001
NM_001082486.2(ACD):c.559T>C (p.Cys187Arg) rs771799486 0.00001
NM_001082486.2(ACD):c.567T>C (p.Ala189=) rs761367992 0.00001
NM_001082486.2(ACD):c.577C>T (p.Leu193=) rs774346517 0.00001
NM_001082486.2(ACD):c.609T>C (p.Pro203=) rs752926001 0.00001
NM_001082486.2(ACD):c.666C>T (p.Val222=) rs374438854 0.00001
NM_001082486.2(ACD):c.672C>T (p.Ser224=) rs759305698 0.00001
NM_001082486.2(ACD):c.675A>C (p.Ser225=) rs776467595 0.00001
NM_001082486.2(ACD):c.687C>T (p.Ile229=) rs562990096 0.00001
NM_001082486.2(ACD):c.693G>A (p.Glu231=) rs780267725 0.00001
NM_001082486.2(ACD):c.717T>C (p.Ser239=) rs143443362 0.00001
NM_001082486.2(ACD):c.723C>A (p.Gly241=) rs757919779 0.00001
NM_001082486.2(ACD):c.765C>T (p.Asp255=) rs1354345002 0.00001
NM_001082486.2(ACD):c.768G>A (p.Pro256=) rs1245603152 0.00001
NM_001082486.2(ACD):c.772C>T (p.Leu258=) rs540617585 0.00001
NM_001082486.2(ACD):c.870T>C (p.Ser290=) rs2052917578 0.00001
NM_001082486.2(ACD):c.897C>T (p.Ala299=) rs551095255 0.00001
NM_001082486.2(ACD):c.903C>T (p.Ser301=) rs1783907452 0.00001
NM_001082486.2(ACD):c.90G>A (p.Gln30=) rs1242526760 0.00001
NM_001082486.2(ACD):c.939C>T (p.Ser313=) rs1368630251 0.00001
NC_000016.10:g.67660296A>G rs2052981802
NC_000016.10:g.67660322G>T rs773291286
NC_000016.10:g.67660326G>A rs1207134820
NM_001082486.1(ACD):c.159G>A (p.Arg53=) rs2543612507
NM_001082486.1(ACD):c.159G>C (p.Arg53=) rs2543612507
NM_001082486.1(ACD):c.162C>G (p.Pro54=) rs73597595
NM_001082486.1(ACD):c.168A>C (p.Pro56=) rs2543612443
NM_001082486.1(ACD):c.171G>A (p.Ala57=) rs1331812977
NM_001082486.1(ACD):c.171G>C (p.Ala57=) rs1331812977
NM_001082486.1(ACD):c.177G>A (p.Glu59=) rs1567642924
NM_001082486.1(ACD):c.180T>A (p.Leu60=) rs780723982
NM_001082486.1(ACD):c.183T>A (p.Pro61=) rs2052981802
NM_001082486.1(ACD):c.186T>A (p.Leu62=) rs1470735194
NM_001082486.1(ACD):c.189G>A (p.Pro63=) rs1237216521
NM_001082486.1(ACD):c.189G>C (p.Pro63=) rs1237216521
NM_001082486.1(ACD):c.192G>A (p.Arg64=) rs756973095
NM_001082486.1(ACD):c.204C>G (p.Ala68=) rs2543612209
NM_001082486.1(ACD):c.210G>A (p.Ala70=) rs752493893
NM_001082486.1(ACD):c.216G>T (p.Ala72=) rs759493487
NM_001082486.1(ACD):c.27C>G (p.Ala9=) rs780167082
NM_001082486.1(ACD):c.30G>A (p.Ala10=) rs2052989507
NM_001082486.1(ACD):c.39A>G (p.Val13=) rs2543613565
NM_001082486.1(ACD):c.9C>A (p.Gly3=) rs201685459
NM_001082486.2(ACD):c.-13T>G rs2543611877
NM_001082486.2(ACD):c.-19G>A rs2543611933
NM_001082486.2(ACD):c.-19G>T rs2543611933
NM_001082486.2(ACD):c.-21C>T rs2052979537
NM_001082486.2(ACD):c.-27T>C rs2052979762
NM_001082486.2(ACD):c.-28G>T rs1463615796
NM_001082486.2(ACD):c.-31C>A rs775903443
NM_001082486.2(ACD):c.-34G>A rs774720294
NM_001082486.2(ACD):c.-34G>C rs774720294
NM_001082486.2(ACD):c.-4G>A rs2543611795
NM_001082486.2(ACD):c.-5T>C rs2052978830
NM_001082486.2(ACD):c.-7C>T rs999681254
NM_001082486.2(ACD):c.1008C>T (p.Thr336=) rs2543599048
NM_001082486.2(ACD):c.1011C>A (p.Pro337=) rs2543599020
NM_001082486.2(ACD):c.1011C>T (p.Pro337=) rs2543599020
NM_001082486.2(ACD):c.1020A>T (p.Pro340=) rs2543598975
NM_001082486.2(ACD):c.1026G>A (p.Gln342=) rs2052913398
NM_001082486.2(ACD):c.1035T>C (p.Thr345=) rs770464499
NM_001082486.2(ACD):c.1041T>C (p.Ser347=) rs2543598879
NM_001082486.2(ACD):c.1044C>G (p.Leu348=) rs201447131
NM_001082486.2(ACD):c.1044C>T (p.Leu348=) rs201447131
NM_001082486.2(ACD):c.1050C>G (p.Pro350=) rs1432338895
NM_001082486.2(ACD):c.1050C>T (p.Pro350=)
NM_001082486.2(ACD):c.1059T>C (p.His353=) rs2543598762
NM_001082486.2(ACD):c.105A>G (p.Leu35=) rs1597774075
NM_001082486.2(ACD):c.1061T>C (p.Val354Ala) rs2543598758
NM_001082486.2(ACD):c.1065C>T (p.Pro355=) rs2052912065
NM_001082486.2(ACD):c.1071A>G (p.Pro357=) rs1028902904
NM_001082486.2(ACD):c.1077G>A (p.Gln359=) rs200526158
NM_001082486.2(ACD):c.1089C>G (p.Thr363=) rs1414641852
NM_001082486.2(ACD):c.1092G>A (p.Arg364=) rs1308671888
NM_001082486.2(ACD):c.1104T>C (p.Pro368=) rs2543598602
NM_001082486.2(ACD):c.1107C>T (p.Ser369=) rs138584103
NM_001082486.2(ACD):c.1122G>A (p.Glu374=) rs2052910757
NM_001082486.2(ACD):c.1131G>A (p.Gly377=) rs1483135274
NM_001082486.2(ACD):c.1131G>C (p.Gly377=) rs1483135274
NM_001082486.2(ACD):c.1137C>T (p.Pro379=) rs2543598457
NM_001082486.2(ACD):c.114C>T (p.Ala38=) rs756189227
NM_001082486.2(ACD):c.1161C>T (p.Pro387=) rs2543598314
NM_001082486.2(ACD):c.1185C>T (p.Ala395=) rs2052908612
NM_001082486.2(ACD):c.1194C>G (p.Pro398=) rs2543598067
NM_001082486.2(ACD):c.1197C>T (p.Cys399=) rs985331309
NM_001082486.2(ACD):c.1209A>G (p.Glu403=) rs2052902337
NM_001082486.2(ACD):c.1233T>C (p.Gly411=) rs2052901324
NM_001082486.2(ACD):c.1239C>T (p.Ala413=) rs755330502
NM_001082486.2(ACD):c.123G>A (p.Ala41=) rs780935998
NM_001082486.2(ACD):c.123G>C (p.Ala41=) rs780935998
NM_001082486.2(ACD):c.123G>T (p.Ala41=) rs780935998
NM_001082486.2(ACD):c.1254T>C (p.Tyr418=)
NM_001082486.2(ACD):c.1257G>A (p.Glu419=) rs2543596880
NM_001082486.2(ACD):c.1260A>G (p.Pro420=) rs2543596843
NM_001082486.2(ACD):c.1263C>T (p.Pro421=)
NM_001082486.2(ACD):c.126C>G (p.Val42=) rs2543610641
NM_001082486.2(ACD):c.126C>T (p.Val42=) rs2543610641
NM_001082486.2(ACD):c.1275C>T (p.Leu425=) rs2543596712
NM_001082486.2(ACD):c.1281T>C (p.Ala427=) rs762704565
NM_001082486.2(ACD):c.1284G>T (p.Arg428=) rs2543596653
NM_001082486.2(ACD):c.1287C>T (p.Val429=) rs2543596633
NM_001082486.2(ACD):c.1299G>A (p.Arg433=) rs756845439
NM_001082486.2(ACD):c.129G>C (p.Ala43=) rs2052972012
NM_001082486.2(ACD):c.129G>T (p.Ala43=) rs2052972012
NM_001082486.2(ACD):c.12G>T (p.Ser4=) rs2543611699
NM_001082486.2(ACD):c.1308C>T (p.Pro436=) rs777330256
NM_001082486.2(ACD):c.1315A>G (p.Met439Val) rs2543595871
NM_001082486.2(ACD):c.1320C>A (p.Ala440=)
NM_001082486.2(ACD):c.132C>G (p.Gly44=) rs138527794
NM_001082486.2(ACD):c.1332C>T (p.His444=) rs2543595787
NM_001082486.2(ACD):c.1338G>C (p.Leu446=)
NM_001082486.2(ACD):c.1344T>C (p.Asp448=) rs2052895169
NM_001082486.2(ACD):c.1347A>C (p.Ala449=) rs2543595694
NM_001082486.2(ACD):c.1355G>A (p.Gly452Glu) rs2052894796
NM_001082486.2(ACD):c.1356G>A (p.Gly452=) rs2052894726
NM_001082486.2(ACD):c.135A>G (p.Pro45=) rs2543610580
NM_001082486.2(ACD):c.1371G>A (p.Pro457=) rs14920
NM_001082486.2(ACD):c.1372A>G (p.Met458Val) rs2543595535
NM_001082486.2(ACD):c.138C>T (p.Ser46=)
NM_001082486.2(ACD):c.144C>G (p.Ala48=) rs2142975451
NM_001082486.2(ACD):c.150T>C (p.Asp50=) rs1464066074
NM_001082486.2(ACD):c.153G>A (p.Thr51=) rs2543610478
NM_001082486.2(ACD):c.153G>T (p.Thr51=) rs2543610478
NM_001082486.2(ACD):c.162C>G (p.Val54=) rs371791290
NM_001082486.2(ACD):c.165G>T (p.Gly55=) rs2543610408
NM_001082486.2(ACD):c.171G>C (p.Thr57=) rs1385639545
NM_001082486.2(ACD):c.174G>A (p.Leu58=) rs768395580
NM_001082486.2(ACD):c.174G>T (p.Leu58=) rs768395580
NM_001082486.2(ACD):c.177T>G (p.Leu59=) rs2543610326
NM_001082486.2(ACD):c.180G>A (p.Val60=) rs1329348299
NM_001082486.2(ACD):c.180G>C (p.Val60=) rs1329348299
NM_001082486.2(ACD):c.18G>A (p.Arg6=) rs779383442
NM_001082486.2(ACD):c.18G>T (p.Arg6Ser) rs779383442
NM_001082486.2(ACD):c.198T>C (p.Ser66=) rs968504696
NM_001082486.2(ACD):c.19C>T (p.Leu7=) rs2543611657
NM_001082486.2(ACD):c.201C>T (p.Val67=) rs1428575354
NM_001082486.2(ACD):c.207C>T (p.Cys69=) rs2543610147
NM_001082486.2(ACD):c.222G>A (p.Glu74=) rs2543610083
NM_001082486.2(ACD):c.225C>A (p.Ala75=) rs2543610064
NM_001082486.2(ACD):c.226C>T (p.Leu76=) rs1223677195
NM_001082486.2(ACD):c.228G>A (p.Leu76=) rs2543610025
NM_001082486.2(ACD):c.229G>A (p.Asp77Asn) rs2543610018
NM_001082486.2(ACD):c.234C>T (p.Thr78=) rs2543609994
NM_001082486.2(ACD):c.237G>C (p.Ser79=) rs1268610570
NM_001082486.2(ACD):c.24C>T (p.Val8=) rs1433309636
NM_001082486.2(ACD):c.267C>G (p.Arg89=) rs752200943
NM_001082486.2(ACD):c.267C>T (p.Arg89=) rs752200943
NM_001082486.2(ACD):c.270G>T (p.Gly90=) rs1597773324
NM_001082486.2(ACD):c.273A>C (p.Thr91=)
NM_001082486.2(ACD):c.273A>G (p.Thr91=) rs2543609171
NM_001082486.2(ACD):c.27A>G (p.Leu9=)
NM_001082486.2(ACD):c.288G>A (p.Leu96=)
NM_001082486.2(ACD):c.288G>C (p.Leu96=)
NM_001082486.2(ACD):c.289C>T (p.Leu97=) rs530732740
NM_001082486.2(ACD):c.294G>A (p.Leu98=) rs2543609072
NM_001082486.2(ACD):c.294G>T (p.Leu98=) rs2543609072
NM_001082486.2(ACD):c.303C>T (p.Cys101=) rs2142974629
NM_001082486.2(ACD):c.306G>A (p.Gly102=) rs1470698882
NM_001082486.2(ACD):c.306G>C (p.Gly102=) rs1470698882
NM_001082486.2(ACD):c.306G>T (p.Gly102=)
NM_001082486.2(ACD):c.315C>G (p.Val105=) rs2543608950
NM_001082486.2(ACD):c.318G>A (p.Gln106=) rs2543608929
NM_001082486.2(ACD):c.324T>A (p.Ala108=) rs2543608903
NM_001082486.2(ACD):c.339C>G (p.Pro113=) rs1322815478
NM_001082486.2(ACD):c.33C>A (p.Pro11=) rs1488184674
NM_001082486.2(ACD):c.33C>T (p.Pro11=) rs1488184674
NM_001082486.2(ACD):c.354C>G (p.Leu118=) rs745891027
NM_001082486.2(ACD):c.363C>T (p.Asp121=) rs2543608088
NM_001082486.2(ACD):c.372C>T (p.Ser124=) rs2543608037
NM_001082486.2(ACD):c.378G>T (p.Leu126=) rs2543608006
NM_001082486.2(ACD):c.381C>T (p.Pro127=)
NM_001082486.2(ACD):c.384G>A (p.Thr128=) rs2543607963
NM_001082486.2(ACD):c.384G>C (p.Thr128=)
NM_001082486.2(ACD):c.394C>A (p.Arg132=) rs2052957232
NM_001082486.2(ACD):c.399A>C (p.Leu133=) rs1284661426
NM_001082486.2(ACD):c.405G>A (p.Val135=) rs755769548
NM_001082486.2(ACD):c.405G>T (p.Val135=)
NM_001082486.2(ACD):c.40C>A (p.Arg14=) rs1235168823
NM_001082486.2(ACD):c.417C>T (p.Asn139=)
NM_001082486.2(ACD):c.432T>C (p.Val144=) rs2543606844
NM_001082486.2(ACD):c.438A>G (p.Lys146=) rs753936561
NM_001082486.2(ACD):c.444C>G (p.Leu148=) rs151132164
NM_001082486.2(ACD):c.450C>T (p.Asp150=) rs2052950822
NM_001082486.2(ACD):c.453C>T (p.Cys151=) rs2543606725
NM_001082486.2(ACD):c.459G>A (p.Glu153=) rs763160982
NM_001082486.2(ACD):c.45G>A (p.Glu15=) rs2543611526
NM_001082486.2(ACD):c.465C>T (p.His155=) rs142115585
NM_001082486.2(ACD):c.474G>A (p.Glu158=) rs1373169889
NM_001082486.2(ACD):c.477C>T (p.Ser159=) rs2543605445
NM_001082486.2(ACD):c.48G>T (p.Leu16=)
NM_001082486.2(ACD):c.495C>T (p.Gly165=) rs2052939582
NM_001082486.2(ACD):c.498A>G (p.Leu166=) rs2052939456
NM_001082486.2(ACD):c.498A>T (p.Leu166=)
NM_001082486.2(ACD):c.501A>G (p.Ser167=) rs2052939338
NM_001082486.2(ACD):c.502C>T (p.Leu168=) rs2543604062
NM_001082486.2(ACD):c.507C>T (p.Ser169=) rs2543604039
NM_001082486.2(ACD):c.510G>A (p.Gln170=) rs2543604024
NM_001082486.2(ACD):c.514C>T (p.Leu172=) rs1597771527
NM_001082486.2(ACD):c.516G>C (p.Leu172=) rs2543603992
NM_001082486.2(ACD):c.51T>C (p.Ile17=) rs2543611505
NM_001082486.2(ACD):c.527G>A (p.Arg176Gln) rs145007645
NM_001082486.2(ACD):c.52C>T (p.Leu18=) rs746541344
NM_001082486.2(ACD):c.531G>A (p.Glu177=)
NM_001082486.2(ACD):c.534C>T (p.Asp178=)
NM_001082486.2(ACD):c.549G>A (p.Gly183=)
NM_001082486.2(ACD):c.54G>A (p.Leu18=)
NM_001082486.2(ACD):c.552A>G (p.Ala184=)
NM_001082486.2(ACD):c.555C>T (p.Leu185=) rs745443998
NM_001082486.2(ACD):c.558G>A (p.Val186=) rs2543603723
NM_001082486.2(ACD):c.561C>T (p.Cys187=) rs2543603692
NM_001082486.2(ACD):c.570A>G (p.Glu190=) rs2543603676
NM_001082486.2(ACD):c.579G>A (p.Leu193=)
NM_001082486.2(ACD):c.579G>C (p.Leu193=) rs937840429
NM_001082486.2(ACD):c.57G>T (p.Gly19=) rs2543611466
NM_001082486.2(ACD):c.588G>A (p.Glu196=) rs749050643
NM_001082486.2(ACD):c.591C>A (p.Gly197=) rs376086019
NM_001082486.2(ACD):c.612C>T (p.Val204=) rs2543603384
NM_001082486.2(ACD):c.618C>T (p.His206=) rs754155392
NM_001082486.2(ACD):c.63G>A (p.Glu21=)
NM_001082486.2(ACD):c.660C>T (p.Tyr220=)
NM_001082486.2(ACD):c.663T>A (p.Thr221=) rs762686520
NM_001082486.2(ACD):c.663T>C (p.Thr221=)
NM_001082486.2(ACD):c.669C>T (p.Pro223=) rs2142970590
NM_001082486.2(ACD):c.681G>A (p.Leu227=)
NM_001082486.2(ACD):c.684C>T (p.Cys228=) rs947250700
NM_001082486.2(ACD):c.68C>T (p.Pro23Leu) rs2052976709
NM_001082486.2(ACD):c.699C>T (p.Asp233=) rs781596966
NM_001082486.2(ACD):c.69C>G (p.Pro23=)
NM_001082486.2(ACD):c.6A>G (p.Ala2=) rs1301817552
NM_001082486.2(ACD):c.711G>C (p.Leu237=) rs1212715141
NM_001082486.2(ACD):c.714C>T (p.Ser238=) rs2543602238
NM_001082486.2(ACD):c.718C>T (p.Leu240=) rs1306566304
NM_001082486.2(ACD):c.744C>T (p.Gly248=)
NM_001082486.2(ACD):c.753G>A (p.Leu251=) rs2052926934
NM_001082486.2(ACD):c.756C>T (p.Pro252=) rs2543601528
NM_001082486.2(ACD):c.759A>G (p.Pro253=) rs1264207514
NM_001082486.2(ACD):c.774G>A (p.Leu258=) rs1401652244
NM_001082486.2(ACD):c.777G>A (p.Gln259=) rs2543601345
NM_001082486.2(ACD):c.780C>T (p.Asp260=) rs1254941141
NM_001082486.2(ACD):c.781C>T (p.Leu261=) rs760404492
NM_001082486.2(ACD):c.783A>G (p.Leu261=)
NM_001082486.2(ACD):c.789G>C (p.Leu263=) rs2543601288
NM_001082486.2(ACD):c.792C>T (p.Thr264=) rs2052925790
NM_001082486.2(ACD):c.801C>G (p.Ala267=) rs72549181
NM_001082486.2(ACD):c.807T>G (p.Pro269=) rs759789773
NM_001082486.2(ACD):c.813C>T (p.Ser271=) rs878924464
NM_001082486.2(ACD):c.816A>T (p.Ser272=) rs1597769834
NM_001082486.2(ACD):c.825C>A (p.Ser275=)
NM_001082486.2(ACD):c.825C>G (p.Ser275=) rs747335465
NM_001082486.2(ACD):c.825C>T (p.Ser275=) rs747335465
NM_001082486.2(ACD):c.834C>T (p.Thr278=)
NM_001082486.2(ACD):c.84C>T (p.Ala28=)
NM_001082486.2(ACD):c.856T>C (p.Ser286Pro) rs2543599777
NM_001082486.2(ACD):c.864G>A (p.Glu288=) rs2543599728
NM_001082486.2(ACD):c.87G>A (p.Gly29=) rs2543611333
NM_001082486.2(ACD):c.882C>T (p.Ile294=)
NM_001082486.2(ACD):c.891G>C (p.Leu297=) rs1459307216
NM_001082486.2(ACD):c.894T>A (p.Pro298=) rs773774371
NM_001082486.2(ACD):c.894T>C (p.Pro298=) rs773774371
NM_001082486.2(ACD):c.898C>T (p.Leu300=)
NM_001082486.2(ACD):c.903C>G (p.Ser301=) rs1783907452
NM_001082486.2(ACD):c.921A>G (p.Pro307=)
NM_001082486.2(ACD):c.924G>A (p.Gly308=) rs2543599430
NM_001082486.2(ACD):c.930A>G (p.Arg310=) rs2142968462
NM_001082486.2(ACD):c.933C>T (p.Ser311=) rs2543599388
NM_001082486.2(ACD):c.93G>A (p.Leu31=)
NM_001082486.2(ACD):c.945C>T (p.Pro315=) rs745532404
NM_001082486.2(ACD):c.948A>G (p.Ser316=) rs2543599324
NM_001082486.2(ACD):c.966C>T (p.Ala322=) rs2142968290
NM_001082486.2(ACD):c.969T>G (p.Pro323=) rs2543599231
NM_001082486.2(ACD):c.975C>G (p.Thr325=)
NM_001082486.2(ACD):c.975C>T (p.Thr325=) rs2543599197
NM_001082486.2(ACD):c.980C>T (p.Thr327Ile) rs1300291520
NM_001082486.2(ACD):c.987G>A (p.Arg329=) rs368215405
NM_001082486.2(ACD):c.987G>C (p.Arg329Ser) rs368215405
NM_001082486.2(ACD):c.990C>A (p.Ser330=)

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