ClinVar Miner

List of variants studied for Deficiency of malonyl-CoA decarboxylase by Invitae

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 516
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HGVS dbSNP gnomAD frequency
NM_012213.3(MLYCD):c.528+19T>C rs446036 0.96188
NM_012213.3(MLYCD):c.642-5C>T rs2278037 0.07436
NM_012213.3(MLYCD):c.642-12A>T rs2278036 0.07434
NM_012213.3(MLYCD):c.529-8C>T rs3815806 0.06693
NM_012213.3(MLYCD):c.732G>A (p.Ser244=) rs2278038 0.04474
NM_012213.3(MLYCD):c.444C>T (p.Asp148=) rs62640904 0.03566
NM_012213.3(MLYCD):c.31A>G (p.Arg11Gly) rs138107830 0.03048
NM_012213.3(MLYCD):c.850A>G (p.Thr284Ala) rs62640903 0.02854
NM_012213.3(MLYCD):c.1464A>G (p.Gln488=) rs1127368 0.00870
NM_012213.3(MLYCD):c.799-16C>T rs150789545 0.00413
NM_012213.3(MLYCD):c.925A>C (p.Lys309Gln) rs149926091 0.00324
NM_012213.3(MLYCD):c.206C>T (p.Ala69Val) rs200579941 0.00284
NM_012213.3(MLYCD):c.776G>C (p.Gly259Ala) rs77493891 0.00265
NM_012213.3(MLYCD):c.1044G>T (p.Glu348Asp) rs138675420 0.00118
NM_012213.3(MLYCD):c.686G>A (p.Arg229His) rs142117752 0.00114
NM_012213.3(MLYCD):c.408C>G (p.Arg136=) rs183593320 0.00108
NM_012213.3(MLYCD):c.375C>G (p.Ala125=) rs375657338 0.00096
NM_012213.3(MLYCD):c.507G>A (p.Leu169=) rs555482480 0.00088
NM_012213.3(MLYCD):c.1007A>G (p.Lys336Arg) rs76841036 0.00075
NM_012213.3(MLYCD):c.13G>A (p.Gly5Arg) rs745604653 0.00064
NM_012213.3(MLYCD):c.541G>A (p.Val181Met) rs147617160 0.00061
NM_012213.3(MLYCD):c.1236C>T (p.Arg412=) rs370278897 0.00055
NM_012213.3(MLYCD):c.232C>T (p.Leu78=) rs541503395 0.00052
NM_012213.3(MLYCD):c.1098C>T (p.Ile366=) rs199549095 0.00048
NM_012213.3(MLYCD):c.1074G>A (p.Ser358=) rs377161125 0.00043
NM_012213.3(MLYCD):c.1420A>G (p.Ile474Val) rs375935118 0.00042
NM_012213.3(MLYCD):c.1294C>T (p.Arg432Cys) rs35124955 0.00041
NM_012213.3(MLYCD):c.799-19C>T rs371452638 0.00029
NM_012213.3(MLYCD):c.1383G>A (p.Thr461=) rs375344095 0.00027
NM_012213.3(MLYCD):c.1328G>C (p.Gly443Ala) rs200278015 0.00025
NM_012213.3(MLYCD):c.558C>G (p.Leu186=) rs200027817 0.00024
NM_012213.3(MLYCD):c.799-15G>A rs367614213 0.00024
NM_012213.3(MLYCD):c.641+11C>T rs200841672 0.00019
NM_012213.3(MLYCD):c.135C>T (p.Arg45=) rs767969074 0.00018
NM_012213.3(MLYCD):c.129G>A (p.Leu43=) rs762166598 0.00017
NM_012213.3(MLYCD):c.1433A>G (p.Glu478Gly) rs200078965 0.00015
NM_012213.3(MLYCD):c.393C>T (p.Tyr131=) rs560831102 0.00015
NM_012213.3(MLYCD):c.892C>G (p.Leu298Val) rs563907654 0.00013
NM_012213.3(MLYCD):c.787A>G (p.Ser263Gly) rs570550620 0.00012
NM_012213.3(MLYCD):c.1335C>T (p.Thr445=) rs373675093 0.00011
NM_012213.3(MLYCD):c.741G>T (p.Gly247=) rs376948469 0.00011
NM_012213.3(MLYCD):c.1146C>T (p.Ser382=) rs373273203 0.00010
NM_012213.3(MLYCD):c.641+3A>C rs370078811 0.00010
NM_012213.3(MLYCD):c.577G>A (p.Gly193Arg) rs369616872 0.00009
NM_012213.3(MLYCD):c.703A>G (p.Arg235Gly) rs369427189 0.00009
NM_012213.3(MLYCD):c.446G>A (p.Gly149Asp) rs773196234 0.00008
NM_012213.3(MLYCD):c.763G>A (p.Val255Met) rs377566911 0.00008
NM_012213.3(MLYCD):c.1278C>T (p.Asn426=) rs367874845 0.00007
NM_012213.3(MLYCD):c.1097T>A (p.Ile366Asn) rs376504760 0.00006
NM_012213.3(MLYCD):c.1174C>T (p.Arg392Trp) rs530627828 0.00006
NM_012213.3(MLYCD):c.1295G>A (p.Arg432His) rs201973830 0.00006
NM_012213.3(MLYCD):c.592G>A (p.Glu198Lys) rs201780465 0.00006
NM_012213.3(MLYCD):c.901G>C (p.Val301Leu) rs199656023 0.00006
NM_012213.3(MLYCD):c.939G>A (p.Lys313=) rs1014990867 0.00006
NM_012213.3(MLYCD):c.948+11C>T rs568952897 0.00006
NM_012213.3(MLYCD):c.1373T>C (p.Leu458Pro) rs768566945 0.00005
NM_012213.3(MLYCD):c.497C>T (p.Ala166Val) rs774598772 0.00005
NM_012213.3(MLYCD):c.637A>T (p.Ser213Cys) rs552425982 0.00005
NM_012213.3(MLYCD):c.798+8C>T rs199720670 0.00005
NM_012213.3(MLYCD):c.1203G>A (p.Leu401=) rs200341673 0.00004
NM_012213.3(MLYCD):c.12C>T (p.Phe4=) rs1027854085 0.00004
NM_012213.3(MLYCD):c.1345G>A (p.Gly449Ser) rs752955481 0.00004
NM_012213.3(MLYCD):c.1350G>A (p.Leu450=) rs752170020 0.00004
NM_012213.3(MLYCD):c.515G>A (p.Gly172Glu) rs891464883 0.00004
NM_012213.3(MLYCD):c.560C>G (p.Ser187Ter) rs104894528 0.00004
NM_012213.3(MLYCD):c.880A>G (p.Thr294Ala) rs200365808 0.00004
NM_012213.3(MLYCD):c.887A>C (p.Gln296Pro) rs199761233 0.00004
NM_012213.3(MLYCD):c.933C>T (p.Val311=) rs757687650 0.00004
NM_012213.3(MLYCD):c.948+10A>G rs372958512 0.00004
NM_012213.3(MLYCD):c.1160C>G (p.Ser387Trp) rs376324546 0.00003
NM_012213.3(MLYCD):c.1241A>G (p.Tyr414Cys) rs368099850 0.00003
NM_012213.3(MLYCD):c.1255G>A (p.Val419Met) rs773101554 0.00003
NM_012213.3(MLYCD):c.1344C>T (p.Cys448=) rs534173407 0.00003
NM_012213.3(MLYCD):c.505C>T (p.Leu169=) rs771885443 0.00003
NM_012213.3(MLYCD):c.64C>T (p.Pro22Ser) rs915124487 0.00003
NM_012213.3(MLYCD):c.762C>T (p.His254=) rs773274796 0.00003
NM_012213.3(MLYCD):c.894C>G (p.Leu298=) rs368719157 0.00003
NM_012213.3(MLYCD):c.949-8C>G rs1314128180 0.00003
NM_012213.3(MLYCD):c.1004C>A (p.Thr335Asn) rs76060070 0.00002
NM_012213.3(MLYCD):c.1058A>C (p.Glu353Ala) rs966540879 0.00002
NM_012213.3(MLYCD):c.1081A>G (p.Lys361Glu) rs1287261177 0.00002
NM_012213.3(MLYCD):c.1179G>A (p.Ala393=) rs564269563 0.00002
NM_012213.3(MLYCD):c.1276A>G (p.Asn426Asp) rs771229830 0.00002
NM_012213.3(MLYCD):c.208G>A (p.Asp70Asn) rs1336491665 0.00002
NM_012213.3(MLYCD):c.334C>T (p.Leu112=) rs751532385 0.00002
NM_012213.3(MLYCD):c.528+10C>T rs1177520551 0.00002
NM_012213.3(MLYCD):c.615G>A (p.Pro205=) rs572295105 0.00002
NM_012213.3(MLYCD):c.641+12G>A rs186425334 0.00002
NM_012213.3(MLYCD):c.798+9G>A rs752966506 0.00002
NM_012213.3(MLYCD):c.879G>A (p.Leu293=) rs1907207894 0.00002
NM_012213.3(MLYCD):c.1027A>T (p.Asn343Tyr) rs1306974380 0.00001
NM_012213.3(MLYCD):c.1153G>A (p.Val385Met) rs747617187 0.00001
NM_012213.3(MLYCD):c.1191G>A (p.Pro397=) rs753701525 0.00001
NM_012213.3(MLYCD):c.1194G>C (p.Leu398=) rs752228353 0.00001
NM_012213.3(MLYCD):c.1206C>T (p.Cys402=) rs749679659 0.00001
NM_012213.3(MLYCD):c.1300A>G (p.Asn434Asp) rs758793233 0.00001
NM_012213.3(MLYCD):c.1329C>T (p.Gly443=) rs1240849577 0.00001
NM_012213.3(MLYCD):c.1347C>T (p.Gly449=) rs778137956 0.00001
NM_012213.3(MLYCD):c.1428C>G (p.Ala476=) rs570304882 0.00001
NM_012213.3(MLYCD):c.166C>T (p.Leu56=) rs1265969148 0.00001
NM_012213.3(MLYCD):c.225C>T (p.Tyr75=) rs528074239 0.00001
NM_012213.3(MLYCD):c.267C>T (p.Gly89=) rs561775245 0.00001
NM_012213.3(MLYCD):c.282C>T (p.Gly94=) rs550726820 0.00001
NM_012213.3(MLYCD):c.355G>T (p.Ala119Ser) rs779658559 0.00001
NM_012213.3(MLYCD):c.372G>T (p.Gln124His) rs748979749 0.00001
NM_012213.3(MLYCD):c.426C>T (p.His142=) rs923281597 0.00001
NM_012213.3(MLYCD):c.432C>T (p.Ile144=) rs944533152 0.00001
NM_012213.3(MLYCD):c.453G>A (p.Val151=) rs766316428 0.00001
NM_012213.3(MLYCD):c.482T>C (p.Leu161Pro) rs780734812 0.00001
NM_012213.3(MLYCD):c.501C>G (p.Leu167=) rs1003003517 0.00001
NM_012213.3(MLYCD):c.526C>T (p.Arg176Trp) rs766257090 0.00001
NM_012213.3(MLYCD):c.553A>T (p.Met185Leu) rs1212880594 0.00001
NM_012213.3(MLYCD):c.576C>T (p.Ser192=) rs1399745223 0.00001
NM_012213.3(MLYCD):c.596G>A (p.Arg199Gln) rs780910334 0.00001
NM_012213.3(MLYCD):c.60del (p.Arg21fs) rs987846203 0.00001
NM_012213.3(MLYCD):c.613C>T (p.Pro205Ser) rs759089126 0.00001
NM_012213.3(MLYCD):c.630G>C (p.Gln210His) rs761614015 0.00001
NM_012213.3(MLYCD):c.642-16A>G rs548228436 0.00001
NM_012213.3(MLYCD):c.691G>A (p.Val231Ile) rs774892514 0.00001
NM_012213.3(MLYCD):c.799-4C>T rs1434940922 0.00001
NM_012213.3(MLYCD):c.8G>A (p.Gly3Asp) rs121908081 0.00001
NM_012213.3(MLYCD):c.907C>A (p.Leu303Met) rs766903457 0.00001
NM_012213.3(MLYCD):c.928C>T (p.Arg310Ter) rs759043861 0.00001
NM_012213.3(MLYCD):c.948+7G>A rs768723084 0.00001
NM_012213.3(MLYCD):c.961C>T (p.His321Tyr) rs762720529 0.00001
NM_012213.3(MLYCD):c.997G>A (p.Gly333Ser) rs746782812 0.00001
NC_000016.10:g.(?_83899125)_(83915509_?)del
NC_000016.10:g.83914954AG[2]
NC_000016.10:g.83914954AG[3]
NC_000016.9:g.(?_83932750)_(83941907_?)del
NC_000016.9:g.(?_83932750)_(84056514_?)del
NC_000016.9:g.(?_83948541)_(83949094_?)del
NM_012213.3(MLYCD):c.1005C>A (p.Thr335=) rs752690201
NM_012213.3(MLYCD):c.1005C>G (p.Thr335=)
NM_012213.3(MLYCD):c.1012C>G (p.Leu338Val) rs1211916115
NM_012213.3(MLYCD):c.1024C>T (p.Leu342=)
NM_012213.3(MLYCD):c.102C>A (p.Gly34=)
NM_012213.3(MLYCD):c.1031C>T (p.Ser344Leu) rs1294536971
NM_012213.3(MLYCD):c.1032G>A (p.Ser344=)
NM_012213.3(MLYCD):c.1032G>T (p.Ser344=)
NM_012213.3(MLYCD):c.1038G>A (p.Thr346=)
NM_012213.3(MLYCD):c.1039_1041del (p.Lys347del)
NM_012213.3(MLYCD):c.1047T>G (p.His349Gln)
NM_012213.3(MLYCD):c.104C>T (p.Ala35Val)
NM_012213.3(MLYCD):c.1062C>G (p.Leu354=)
NM_012213.3(MLYCD):c.1062C>T (p.Leu354=)
NM_012213.3(MLYCD):c.1065T>C (p.Phe355=)
NM_012213.3(MLYCD):c.1065_1066insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGGAATGAACTCTTT (p.Phe355_Thr356insPhePhePhePhePhePheXaaXaaXaaXaaArgAspProProAlaSerAlaSerGlnSerAlaGlyIleThrGlyValSerHisArgAlaArgProArgAsnGluLeuPhe)
NM_012213.3(MLYCD):c.1073C>G (p.Ser358Trp) rs200573073
NM_012213.3(MLYCD):c.1073C>T (p.Ser358Leu)
NM_012213.3(MLYCD):c.1074G>T (p.Ser358=)
NM_012213.3(MLYCD):c.1083G>A (p.Lys361=)
NM_012213.3(MLYCD):c.1089C>A (p.Ile363=) rs372909321
NM_012213.3(MLYCD):c.108G>A (p.Leu36=)
NM_012213.3(MLYCD):c.1092G>A (p.Ser364=)
NM_012213.3(MLYCD):c.1098C>A (p.Ile366=)
NM_012213.3(MLYCD):c.1104T>G (p.Gly368=)
NM_012213.3(MLYCD):c.1106G>T (p.Gly369Val) rs2151060022
NM_012213.3(MLYCD):c.1107C>T (p.Gly369=)
NM_012213.3(MLYCD):c.1109C>A (p.Pro370His) rs759839871
NM_012213.3(MLYCD):c.1116C>T (p.Asn372=)
NM_012213.3(MLYCD):c.1122C>T (p.Thr374=)
NM_012213.3(MLYCD):c.1125C>G (p.Leu375=)
NM_012213.3(MLYCD):c.1129CTC[2] (p.Leu379del)
NM_012213.3(MLYCD):c.1131C>G (p.Leu377=)
NM_012213.3(MLYCD):c.1137C>G (p.Leu379=) rs2151060040
NM_012213.3(MLYCD):c.1137C>T (p.Leu379=)
NM_012213.3(MLYCD):c.1143C>T (p.Ser381=)
NM_012213.3(MLYCD):c.1147G>C (p.Glu383Gln)
NM_012213.3(MLYCD):c.1160C>T (p.Ser387Leu) rs376324546
NM_012213.3(MLYCD):c.1161G>A (p.Ser387=)
NM_012213.3(MLYCD):c.1170G>A (p.Leu390=) rs2151060055
NM_012213.3(MLYCD):c.1175G>A (p.Arg392Gln) rs201576638
NM_012213.3(MLYCD):c.1178C>G (p.Ala393Gly) rs200750439
NM_012213.3(MLYCD):c.1185G>A (p.Gln395=)
NM_012213.3(MLYCD):c.1191G>C (p.Pro397=)
NM_012213.3(MLYCD):c.1194G>T (p.Leu398=)
NM_012213.3(MLYCD):c.1207G>T (p.Ala403Ser)
NM_012213.3(MLYCD):c.1209C>G (p.Ala403=)
NM_012213.3(MLYCD):c.1209C>T (p.Ala403=)
NM_012213.3(MLYCD):c.1215C>T (p.Tyr405=)
NM_012213.3(MLYCD):c.1216C>T (p.Leu406=)
NM_012213.3(MLYCD):c.1221T>C (p.Tyr407=)
NM_012213.3(MLYCD):c.1233C>T (p.His411=)
NM_012213.3(MLYCD):c.1236C>A (p.Arg412=) rs370278897
NM_012213.3(MLYCD):c.1237G>C (p.Gly413Arg) rs374608119
NM_012213.3(MLYCD):c.1239C>A (p.Gly413=)
NM_012213.3(MLYCD):c.1239C>T (p.Gly413=)
NM_012213.3(MLYCD):c.123C>A (p.Asp41Glu)
NM_012213.3(MLYCD):c.1242C>T (p.Tyr414=)
NM_012213.3(MLYCD):c.1243G>A (p.Ala415Thr) rs372255821
NM_012213.3(MLYCD):c.1245G>A (p.Ala415=)
NM_012213.3(MLYCD):c.1245G>C (p.Ala415=)
NM_012213.3(MLYCD):c.124G>T (p.Glu42Ter)
NM_012213.3(MLYCD):c.1254C>A (p.Pro418=)
NM_012213.3(MLYCD):c.1254C>G (p.Pro418=)
NM_012213.3(MLYCD):c.1254C>T (p.Pro418=)
NM_012213.3(MLYCD):c.1260C>A (p.Ala420=)
NM_012213.3(MLYCD):c.1260C>T (p.Ala420=)
NM_012213.3(MLYCD):c.1270C>T (p.Leu424=)
NM_012213.3(MLYCD):c.1277A>G (p.Asn426Ser) rs777032506
NM_012213.3(MLYCD):c.1284G>A (p.Ala428=) rs1205978566
NM_012213.3(MLYCD):c.1285G>A (p.Val429Met)
NM_012213.3(MLYCD):c.1289T>C (p.Leu430Pro)
NM_012213.3(MLYCD):c.1290G>C (p.Leu430=)
NM_012213.3(MLYCD):c.1296C>T (p.Arg432=)
NM_012213.3(MLYCD):c.129G>T (p.Leu43=)
NM_012213.3(MLYCD):c.1302C>T (p.Asn434=) rs1381165121
NM_012213.3(MLYCD):c.130C>T (p.Leu44=)
NM_012213.3(MLYCD):c.1311G>A (p.Ala437=)
NM_012213.3(MLYCD):c.1320C>T (p.Ser440=)
NM_012213.3(MLYCD):c.1323C>T (p.Leu441=)
NM_012213.3(MLYCD):c.1326A>G (p.Arg442=) rs2151060171
NM_012213.3(MLYCD):c.1329C>A (p.Gly443=)
NM_012213.3(MLYCD):c.132G>A (p.Leu44=)
NM_012213.3(MLYCD):c.1334C>G (p.Thr445Ser)
NM_012213.3(MLYCD):c.1335C>A (p.Thr445=) rs373675093
NM_012213.3(MLYCD):c.1341C>T (p.Ser447=)
NM_012213.3(MLYCD):c.134G>T (p.Arg45Leu)
NM_012213.3(MLYCD):c.1351A>G (p.Met451Val) rs1567637203
NM_012213.3(MLYCD):c.1356C>G (p.Ala452=)
NM_012213.3(MLYCD):c.1356C>T (p.Ala452=)
NM_012213.3(MLYCD):c.1362C>T (p.Tyr454=)
NM_012213.3(MLYCD):c.1363C>T (p.Arg455Cys)
NM_012213.3(MLYCD):c.1364G>T (p.Arg455Leu)
NM_012213.3(MLYCD):c.1365C>A (p.Arg455=)
NM_012213.3(MLYCD):c.1368C>T (p.Tyr456=)
NM_012213.3(MLYCD):c.1380G>C (p.Glu460Asp) rs2151060214
NM_012213.3(MLYCD):c.1382C>G (p.Thr461Arg)
NM_012213.3(MLYCD):c.1392C>T (p.Asn464=)
NM_012213.3(MLYCD):c.1396A>G (p.Thr466Ala)
NM_012213.3(MLYCD):c.1398C>G (p.Thr466=)
NM_012213.3(MLYCD):c.1400C>G (p.Ser467Cys)
NM_012213.3(MLYCD):c.1401C>T (p.Ser467=)
NM_012213.3(MLYCD):c.141G>C (p.Ala47=)
NM_012213.3(MLYCD):c.141_142del (p.Val48fs) rs1906687546
NM_012213.3(MLYCD):c.1424A>G (p.Lys475Arg) rs200413924
NM_012213.3(MLYCD):c.1424A>T (p.Lys475Ile) rs200413924
NM_012213.3(MLYCD):c.1427C>T (p.Ala476Val) rs1239750288
NM_012213.3(MLYCD):c.1428C>T (p.Ala476=)
NM_012213.3(MLYCD):c.1431T>C (p.Ser477=)
NM_012213.3(MLYCD):c.1440C>T (p.Val480=)
NM_012213.3(MLYCD):c.1448T>C (p.Leu483Pro)
NM_012213.3(MLYCD):c.1449A>G (p.Leu483=)
NM_012213.3(MLYCD):c.1479C>G (p.Leu493=)
NM_012213.3(MLYCD):c.1481dup (p.Ter494TrpextTer?)
NM_012213.3(MLYCD):c.14G>C (p.Gly5Ala)
NM_012213.3(MLYCD):c.159C>T (p.Ala53=)
NM_012213.3(MLYCD):c.160T>A (p.Tyr54Asn)
NM_012213.3(MLYCD):c.162C>A (p.Tyr54Ter)
NM_012213.3(MLYCD):c.164A>T (p.Glu55Val) rs1906688843
NM_012213.3(MLYCD):c.165G>A (p.Glu55=)
NM_012213.3(MLYCD):c.172_493del (p.Glu58fs)
NM_012213.3(MLYCD):c.174G>A (p.Glu58=)
NM_012213.3(MLYCD):c.177G>A (p.Lys59=)
NM_012213.3(MLYCD):c.180A>C (p.Thr60=)
NM_012213.3(MLYCD):c.180A>T (p.Thr60=) rs760721204
NM_012213.3(MLYCD):c.18A>G (p.Pro6=) rs1436058295
NM_012213.3(MLYCD):c.190G>A (p.Ala64Thr) rs2151053170
NM_012213.3(MLYCD):c.192C>T (p.Ala64=)
NM_012213.3(MLYCD):c.193G>A (p.Glu65Lys)
NM_012213.3(MLYCD):c.193G>T (p.Glu65Ter)
NM_012213.3(MLYCD):c.197G>A (p.Gly66Asp)
NM_012213.3(MLYCD):c.199C>T (p.Gln67Ter)
NM_012213.3(MLYCD):c.1A>C (p.Met1Leu)
NM_012213.3(MLYCD):c.1A>T (p.Met1Leu) rs1179555424
NM_012213.3(MLYCD):c.210C>T (p.Asp70=)
NM_012213.3(MLYCD):c.213C>G (p.Phe71Leu) rs780815688
NM_012213.3(MLYCD):c.213C>T (p.Phe71=)
NM_012213.3(MLYCD):c.219C>G (p.Ser73Arg) rs1906691947
NM_012213.3(MLYCD):c.21C>A (p.Gly7=)
NM_012213.3(MLYCD):c.21C>G (p.Gly7=)
NM_012213.3(MLYCD):c.222C>T (p.Phe74=)
NM_012213.3(MLYCD):c.225C>G (p.Tyr75Ter)
NM_012213.3(MLYCD):c.226G>A (p.Gly76Ser) rs1238223514
NM_012213.3(MLYCD):c.226G>T (p.Gly76Cys) rs1238223514
NM_012213.3(MLYCD):c.22_34del (p.Leu8fs)
NM_012213.3(MLYCD):c.22_34dup (p.Arg12fs) rs938617354
NM_012213.3(MLYCD):c.231G>A (p.Gly77=)
NM_012213.3(MLYCD):c.237C>A (p.Ala79=)
NM_012213.3(MLYCD):c.237C>G (p.Ala79=)
NM_012213.3(MLYCD):c.246C>G (p.Ala82=)
NM_012213.3(MLYCD):c.248_252del (p.Gln83fs)
NM_012213.3(MLYCD):c.24G>A (p.Leu8=)
NM_012213.3(MLYCD):c.253G>A (p.Ala85Thr)
NM_012213.3(MLYCD):c.258A>G (p.Glu86=)
NM_012213.3(MLYCD):c.259C>T (p.Leu87=)
NM_012213.3(MLYCD):c.261G>A (p.Leu87=)
NM_012213.3(MLYCD):c.261G>C (p.Leu87=)
NM_012213.3(MLYCD):c.264G>A (p.Leu88=)
NM_012213.3(MLYCD):c.276G>T (p.Ala92=)
NM_012213.3(MLYCD):c.27G>A (p.Thr9=)
NM_012213.3(MLYCD):c.27G>T (p.Thr9=)
NM_012213.3(MLYCD):c.291G>A (p.Val97=)
NM_012213.3(MLYCD):c.292G>A (p.Asp98Asn) rs1906695424
NM_012213.3(MLYCD):c.2T>C (p.Met1Thr)
NM_012213.3(MLYCD):c.300C>A (p.Gly100=)
NM_012213.3(MLYCD):c.306G>A (p.Val102=)
NM_012213.3(MLYCD):c.309G>A (p.Ala103=) rs1361444055
NM_012213.3(MLYCD):c.30C>G (p.Ala10=)
NM_012213.3(MLYCD):c.30C>T (p.Ala10=)
NM_012213.3(MLYCD):c.312G>A (p.Glu104=)
NM_012213.3(MLYCD):c.321C>T (p.Ala107=)
NM_012213.3(MLYCD):c.323G>T (p.Gly108Val)
NM_012213.3(MLYCD):c.327G>T (p.Val109=)
NM_012213.3(MLYCD):c.330C>G (p.Leu110=)
NM_012213.3(MLYCD):c.336G>A (p.Leu112=)
NM_012213.3(MLYCD):c.342G>A (p.Gln114=)
NM_012213.3(MLYCD):c.343C>T (p.Gln115Ter)
NM_012213.3(MLYCD):c.346C>T (p.Gln116Ter)
NM_012213.3(MLYCD):c.351G>A (p.Arg117=)
NM_012213.3(MLYCD):c.360G>C (p.Ala120=) rs2151053260
NM_012213.3(MLYCD):c.366G>C (p.Leu122=)
NM_012213.3(MLYCD):c.367C>T (p.Leu123=)
NM_012213.3(MLYCD):c.369G>A (p.Leu123=)
NM_012213.3(MLYCD):c.36T>G (p.Arg12=)
NM_012213.3(MLYCD):c.375C>T (p.Ala125=)
NM_012213.3(MLYCD):c.376G>T (p.Glu126Ter) rs1375748581
NM_012213.3(MLYCD):c.381C>T (p.Asp127=)
NM_012213.3(MLYCD):c.383G>T (p.Arg128Leu)
NM_012213.3(MLYCD):c.384G>C (p.Arg128=)
NM_012213.3(MLYCD):c.390C>G (p.Arg130=)
NM_012213.3(MLYCD):c.390C>T (p.Arg130=)
NM_012213.3(MLYCD):c.393_400del (p.Leu133fs)
NM_012213.3(MLYCD):c.394G>T (p.Ala132Ser) rs775855312
NM_012213.3(MLYCD):c.399G>C (p.Leu133=)
NM_012213.3(MLYCD):c.404C>T (p.Pro135Leu) rs767436209
NM_012213.3(MLYCD):c.408C>T (p.Arg136=)
NM_012213.3(MLYCD):c.414C>A (p.Arg138=)
NM_012213.3(MLYCD):c.414C>T (p.Arg138=)
NM_012213.3(MLYCD):c.416_417delinsTT (p.Gly139Val) rs2151053320
NM_012213.3(MLYCD):c.417C>T (p.Gly139=)
NM_012213.3(MLYCD):c.429C>T (p.His143=)
NM_012213.3(MLYCD):c.42C>A (p.Leu14=)
NM_012213.3(MLYCD):c.42C>T (p.Leu14=)
NM_012213.3(MLYCD):c.445G>A (p.Gly149Ser) rs767254883
NM_012213.3(MLYCD):c.447C>G (p.Gly149=)
NM_012213.3(MLYCD):c.453G>T (p.Val151=)
NM_012213.3(MLYCD):c.456C>G (p.Arg152=)
NM_012213.3(MLYCD):c.459C>T (p.Phe153=) rs1397996961
NM_012213.3(MLYCD):c.460C>T (p.Leu154=)
NM_012213.3(MLYCD):c.462G>C (p.Leu154=) rs754508753
NM_012213.3(MLYCD):c.467A>G (p.Gln156Arg)
NM_012213.3(MLYCD):c.470T>C (p.Leu157Pro)
NM_012213.3(MLYCD):c.473G>C (p.Arg158Pro)
NM_012213.3(MLYCD):c.475del (p.Ala159fs) rs796051991
NM_012213.3(MLYCD):c.476C>T (p.Ala159Val) rs1440583341
NM_012213.3(MLYCD):c.477C>G (p.Ala159=)
NM_012213.3(MLYCD):c.477C>T (p.Ala159=)
NM_012213.3(MLYCD):c.478_479insGGGCG (p.Asp160fs) rs760768992
NM_012213.3(MLYCD):c.480C>T (p.Asp160=)
NM_012213.3(MLYCD):c.481C>T (p.Leu161=)
NM_012213.3(MLYCD):c.483G>C (p.Leu161=)
NM_012213.3(MLYCD):c.491C>G (p.Ala164Gly) rs1044258796
NM_012213.3(MLYCD):c.493C>T (p.Gln165Ter)
NM_012213.3(MLYCD):c.498C>T (p.Ala166=)
NM_012213.3(MLYCD):c.507G>C (p.Leu169=)
NM_012213.3(MLYCD):c.510G>A (p.Val170=)
NM_012213.3(MLYCD):c.512del (p.Glu171fs)
NM_012213.3(MLYCD):c.519G>A (p.Pro173=)
NM_012213.3(MLYCD):c.519G>C (p.Pro173=)
NM_012213.3(MLYCD):c.520_528+11del
NM_012213.3(MLYCD):c.525C>G (p.Val175=)
NM_012213.3(MLYCD):c.528+12C>T
NM_012213.3(MLYCD):c.528+17G>A
NM_012213.3(MLYCD):c.528+18_528+19insC
NM_012213.3(MLYCD):c.528+19T>A
NM_012213.3(MLYCD):c.528+19T>G rs446036
NM_012213.3(MLYCD):c.528+2T>A
NM_012213.3(MLYCD):c.528+8del rs1192718101
NM_012213.3(MLYCD):c.529-10T>C
NM_012213.3(MLYCD):c.529-11C>A
NM_012213.3(MLYCD):c.529-12T>C
NM_012213.3(MLYCD):c.529-1G>C
NM_012213.3(MLYCD):c.529-20A>T
NM_012213.3(MLYCD):c.529-9_529-8delinsGT
NM_012213.3(MLYCD):c.531A>G (p.Glu177=)
NM_012213.3(MLYCD):c.537_538del (p.Asn179fs)
NM_012213.3(MLYCD):c.54G>A (p.Leu18=)
NM_012213.3(MLYCD):c.558C>T (p.Leu186=)
NM_012213.3(MLYCD):c.573C>G (p.Ser191=)
NM_012213.3(MLYCD):c.573C>T (p.Ser191=)
NM_012213.3(MLYCD):c.582C>T (p.Phe194=)
NM_012213.3(MLYCD):c.583del (p.Phe194_Leu195insTer)
NM_012213.3(MLYCD):c.585G>T (p.Leu195=)
NM_012213.3(MLYCD):c.589C>T (p.Leu197=)
NM_012213.3(MLYCD):c.58C>T (p.Pro20Ser) rs1292718330
NM_012213.3(MLYCD):c.609T>C (p.His203=)
NM_012213.3(MLYCD):c.615G>C (p.Pro205=)
NM_012213.3(MLYCD):c.620A>T (p.Glu207Val) rs2151056698
NM_012213.3(MLYCD):c.622G>A (p.Val208Met) rs1419499874
NM_012213.3(MLYCD):c.637del (p.Ser213fs) rs1907006084
NM_012213.3(MLYCD):c.638G>T (p.Ser213Ile)
NM_012213.3(MLYCD):c.640G>T (p.Glu214Ter)
NM_012213.3(MLYCD):c.641+10dup
NM_012213.3(MLYCD):c.641+2T>C
NM_012213.3(MLYCD):c.641+7A>G
NM_012213.3(MLYCD):c.641+9T>C
NM_012213.3(MLYCD):c.642-15del
NM_012213.3(MLYCD):c.642-18_642-17del
NM_012213.3(MLYCD):c.642-19T>C
NM_012213.3(MLYCD):c.642-20C>G
NM_012213.3(MLYCD):c.642-2A>C rs2151057083
NM_012213.3(MLYCD):c.642-4C>G
NM_012213.3(MLYCD):c.642-6C>A
NM_012213.3(MLYCD):c.642-7G>A
NM_012213.3(MLYCD):c.642-7G>T
NM_012213.3(MLYCD):c.642-8C>G rs757354610
NM_012213.3(MLYCD):c.642-8C>T
NM_012213.3(MLYCD):c.642-9C>G
NM_012213.3(MLYCD):c.642-9C>T
NM_012213.3(MLYCD):c.649G>A (p.Ala217Thr)
NM_012213.3(MLYCD):c.657T>C (p.His219=)
NM_012213.3(MLYCD):c.663A>G (p.Val221=)
NM_012213.3(MLYCD):c.66G>A (p.Pro22=)
NM_012213.3(MLYCD):c.674del (p.Met225fs)
NM_012213.3(MLYCD):c.675G>A (p.Met225Ile)
NM_012213.3(MLYCD):c.682A>T (p.Lys228Ter)
NM_012213.3(MLYCD):c.684G>A (p.Lys228=)
NM_012213.3(MLYCD):c.687C>T (p.Arg229=)
NM_012213.3(MLYCD):c.690C>T (p.Arg230=)
NM_012213.3(MLYCD):c.699C>T (p.Pro233=)
NM_012213.3(MLYCD):c.69C>G (p.Pro23=)
NM_012213.3(MLYCD):c.702C>T (p.Tyr234=)
NM_012213.3(MLYCD):c.708G>A (p.Arg236=)
NM_012213.3(MLYCD):c.717C>T (p.Phe239=)
NM_012213.3(MLYCD):c.721del (p.Ser241fs)
NM_012213.3(MLYCD):c.722C>G (p.Ser241Cys)
NM_012213.3(MLYCD):c.723T>G (p.Ser241=)
NM_012213.3(MLYCD):c.726C>G (p.His242Gln)
NM_012213.3(MLYCD):c.72G>A (p.Gly24=)
NM_012213.3(MLYCD):c.72G>T (p.Gly24=)
NM_012213.3(MLYCD):c.743_753dup (p.Val252fs)
NM_012213.3(MLYCD):c.744G>A (p.Glu248=)
NM_012213.3(MLYCD):c.744G>C (p.Glu248Asp) rs202012613
NM_012213.3(MLYCD):c.744G>T (p.Glu248Asp)
NM_012213.3(MLYCD):c.750G>A (p.Leu250=)
NM_012213.3(MLYCD):c.750G>C (p.Leu250=)
NM_012213.3(MLYCD):c.753C>T (p.Val251=)
NM_012213.3(MLYCD):c.754G>A (p.Val252Ile) rs1555538351
NM_012213.3(MLYCD):c.758del (p.Leu253fs) rs757983774
NM_012213.3(MLYCD):c.769C>T (p.Leu257=)
NM_012213.3(MLYCD):c.76C>A (p.Arg26=)
NM_012213.3(MLYCD):c.76C>T (p.Arg26Trp)
NM_012213.3(MLYCD):c.786C>G (p.Ser262=)
NM_012213.3(MLYCD):c.789C>T (p.Ser263=)
NM_012213.3(MLYCD):c.793A>G (p.Ile265Val)
NM_012213.3(MLYCD):c.796dup (p.Gln266fs)
NM_012213.3(MLYCD):c.798+11T>C
NM_012213.3(MLYCD):c.798+17A>G
NM_012213.3(MLYCD):c.798+17A>T
NM_012213.3(MLYCD):c.798+20C>T
NM_012213.3(MLYCD):c.798+9G>C
NM_012213.3(MLYCD):c.799-19C>A
NM_012213.3(MLYCD):c.799-2A>G
NM_012213.3(MLYCD):c.7G>A (p.Gly3Ser)
NM_012213.3(MLYCD):c.802A>T (p.Ile268Phe)
NM_012213.3(MLYCD):c.805G>A (p.Val269Met)
NM_012213.3(MLYCD):c.813A>G (p.Glu271=)
NM_012213.3(MLYCD):c.814C>T (p.His272Tyr) rs112428248
NM_012213.3(MLYCD):c.822A>C (p.Pro274=)
NM_012213.3(MLYCD):c.826G>C (p.Glu276Gln)
NM_012213.3(MLYCD):c.830C>T (p.Thr277Ile)
NM_012213.3(MLYCD):c.837G>A (p.Glu279=)
NM_012213.3(MLYCD):c.837GAA[1] (p.Lys280del)
NM_012213.3(MLYCD):c.843C>G (p.Asn281Lys)
NM_012213.3(MLYCD):c.849C>T (p.Ile283=)
NM_012213.3(MLYCD):c.84G>T (p.Ala28=)
NM_012213.3(MLYCD):c.858G>A (p.Ala286=)
NM_012213.3(MLYCD):c.858G>C (p.Ala286=)
NM_012213.3(MLYCD):c.859A>G (p.Ile287Val)
NM_012213.3(MLYCD):c.85A>C (p.Ser29Arg)
NM_012213.3(MLYCD):c.861C>A (p.Ile287=) rs957509653
NM_012213.3(MLYCD):c.861C>T (p.Ile287=)
NM_012213.3(MLYCD):c.862T>C (p.Phe288Leu)
NM_012213.3(MLYCD):c.869C>T (p.Ser290Phe)
NM_012213.3(MLYCD):c.870C>T (p.Ser290=)
NM_012213.3(MLYCD):c.873C>T (p.Ile291=)
NM_012213.3(MLYCD):c.875G>A (p.Ser292Asn) rs139159660
NM_012213.3(MLYCD):c.875del (p.Ser292fs)
NM_012213.3(MLYCD):c.876C>T (p.Ser292=)
NM_012213.3(MLYCD):c.897A>G (p.Gln299=)
NM_012213.3(MLYCD):c.8G>T (p.Gly3Val) rs121908081
NM_012213.3(MLYCD):c.904G>A (p.Glu302Lys)
NM_012213.3(MLYCD):c.906G>A (p.Glu302=)
NM_012213.3(MLYCD):c.910G>T (p.Gly304Ter)
NM_012213.3(MLYCD):c.921C>G (p.Leu307=)
NM_012213.3(MLYCD):c.921C>T (p.Leu307=)
NM_012213.3(MLYCD):c.929G>A (p.Arg310Gln) rs146465073
NM_012213.3(MLYCD):c.930A>C (p.Arg310=)
NM_012213.3(MLYCD):c.934G>A (p.Val312Ile)
NM_012213.3(MLYCD):c.936C>T (p.Val312=)
NM_012213.3(MLYCD):c.93G>A (p.Gln31=)
NM_012213.3(MLYCD):c.942G>T (p.Glu314Asp)
NM_012213.3(MLYCD):c.948+11C>G
NM_012213.3(MLYCD):c.948+12G>A
NM_012213.3(MLYCD):c.948+12G>T
NM_012213.3(MLYCD):c.948+17G>T
NM_012213.3(MLYCD):c.948+19G>A
NM_012213.3(MLYCD):c.948+20C>T
NM_012213.3(MLYCD):c.948+8A>G rs2151058806
NM_012213.3(MLYCD):c.948+9C>T rs2151058807
NM_012213.3(MLYCD):c.949-10T>C
NM_012213.3(MLYCD):c.949-11A>G
NM_012213.3(MLYCD):c.949-13C>T
NM_012213.3(MLYCD):c.949-16C>T
NM_012213.3(MLYCD):c.949-17C>G
NM_012213.3(MLYCD):c.949-17C>T
NM_012213.3(MLYCD):c.949-19C>T
NM_012213.3(MLYCD):c.949-5T>C
NM_012213.3(MLYCD):c.949-9G>C
NM_012213.3(MLYCD):c.96G>A (p.Ala32=)
NM_012213.3(MLYCD):c.972G>A (p.Val324=)
NM_012213.3(MLYCD):c.984G>T (p.Leu328=) rs765416276
NM_012213.3(MLYCD):c.9C>G (p.Gly3=)
NM_012213.3(MLYCD):c.9C>T (p.Gly3=) rs1417139377

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