ClinVar Miner

List of variants in gene ALPL reported as likely pathogenic

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 309
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000478.6(ALPL):c.526G>A (p.Ala176Thr) rs121918019 0.00016
NM_000478.6(ALPL):c.575T>C (p.Met192Thr) rs765011829 0.00007
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) rs149889416 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_000478.6(ALPL):c.1120G>A (p.Val374Met) rs552831415 0.00003
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) rs121918017 0.00003
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys) rs138690664 0.00002
NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter) rs746273959 0.00002
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser) rs760029254 0.00002
NM_000478.6(ALPL):c.655A>G (p.Met219Val) rs772432010 0.00002
NM_000478.6(ALPL):c.657G>T (p.Met219Ile) rs776117933 0.00002
NM_000478.6(ALPL):c.667C>T (p.Arg223Trp) rs766076920 0.00002
NM_000478.6(ALPL):c.815G>A (p.Arg272His) rs781272386 0.00002
NM_000478.6(ALPL):c.1022A>G (p.His341Arg) rs1382219911 0.00001
NM_000478.6(ALPL):c.1100C>T (p.Ser367Phe) rs1300239598 0.00001
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val) rs756418235 0.00001
NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn) rs746390776 0.00001
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys) rs371243939 0.00001
NM_000478.6(ALPL):c.1182dup (p.Ile395fs) rs754826836 0.00001
NM_000478.6(ALPL):c.1183A>G (p.Ile395Val) rs772682471 0.00001
NM_000478.6(ALPL):c.119C>T (p.Ala40Val) rs770093969 0.00001
NM_000478.6(ALPL):c.1271T>C (p.Val424Ala) rs1436960562 0.00001
NM_000478.6(ALPL):c.127C>T (p.Leu43Phe) rs148357203 0.00001
NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys) rs966212736 0.00001
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val) rs766656419 0.00001
NM_000478.6(ALPL):c.1415A>G (p.His472Arg) rs1644755133 0.00001
NM_000478.6(ALPL):c.1444C>A (p.His482Asn) rs780857373 0.00001
NM_000478.6(ALPL):c.1454C>T (p.Ala485Val) rs886044912 0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209 0.00001
NM_000478.6(ALPL):c.215T>C (p.Ile72Thr) rs781264043 0.00001
NM_000478.6(ALPL):c.227A>G (p.Gln76Arg) rs1057521085 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473 0.00001
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr) rs773257111 0.00001
NM_000478.6(ALPL):c.352C>A (p.Leu118Met) rs1284058976 0.00001
NM_000478.6(ALPL):c.422C>T (p.Thr141Ile) rs916300043 0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 0.00001
NM_000478.6(ALPL):c.459G>A (p.Trp153Ter) rs761836226 0.00001
NM_000478.6(ALPL):c.530C>T (p.Ala177Val) rs1114167438 0.00001
NM_000478.6(ALPL):c.532T>C (p.Tyr178His) rs1215600806 0.00001
NM_000478.6(ALPL):c.535G>A (p.Ala179Thr) rs121918000 0.00001
NM_000478.6(ALPL):c.542C>T (p.Ser181Leu) rs199590449 0.00001
NM_000478.6(ALPL):c.550C>T (p.Arg184Trp) rs763159520 0.00001
NM_000478.6(ALPL):c.617A>G (p.Tyr206Cys) rs780790767 0.00001
NM_000478.6(ALPL):c.629A>G (p.His210Arg) rs748031071 0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722 0.00001
NM_000478.6(ALPL):c.745G>A (p.Gly249Ser) rs770539523 0.00001
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg) rs786204442 0.00001
NM_000478.6(ALPL):c.809G>A (p.Trp270Ter) rs786204634 0.00001
NM_000478.6(ALPL):c.884T>C (p.Met295Thr) rs1220125702 0.00001
NM_000478.6(ALPL):c.88C>T (p.Arg30Ter) rs1057516334 0.00001
NM_000478.6(ALPL):c.931G>A (p.Glu311Lys) rs763457259 0.00001
NM_000478.6(ALPL):c.997+1G>T rs1292415045 0.00001
NM_000478.6(ALPL):c.997+2T>A rs1057517391 0.00001
NC_000001.10:g.(?_21880585)_(21884063_?)del
NC_000001.11:g.(?_21573655)_(21573809_?)del
NC_000001.11:g.(?_21575723)_(21575934_?)del
NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser)
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1004G>C (p.Arg335Thr) rs1057524727
NM_000478.6(ALPL):c.1007T>C (p.Ile336Thr) rs1644719271
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1015G>A (p.Gly339Arg) rs2148189619
NM_000478.6(ALPL):c.1017dup (p.His340fs) rs764908423
NM_000478.6(ALPL):c.1022A>T (p.His341Leu)
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.1039C>T (p.Gln347Ter) rs1553414560
NM_000478.6(ALPL):c.1042G>A (p.Ala348Thr) rs1553414563
NM_000478.6(ALPL):c.1051G>T (p.Glu351Ter)
NM_000478.6(ALPL):c.106A>C (p.Thr36Pro) rs747167000
NM_000478.6(ALPL):c.1075A>G (p.Ile359Val)
NM_000478.6(ALPL):c.1077C>G (p.Ile359Met) rs567349821
NM_000478.6(ALPL):c.1088_1091dup (p.Ser364fs) rs1057517322
NM_000478.6(ALPL):c.1097C>T (p.Thr366Ile)
NM_000478.6(ALPL):c.1099T>A (p.Ser367Thr)
NM_000478.6(ALPL):c.110T>C (p.Leu37Pro)
NM_000478.6(ALPL):c.1112C>T (p.Thr371Ile)
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs) rs1553414600
NM_000478.6(ALPL):c.1132G>C (p.Asp378His) rs1553414611
NM_000478.6(ALPL):c.1132G>T (p.Asp378Tyr)
NM_000478.6(ALPL):c.1137T>G (p.His379Gln)
NM_000478.6(ALPL):c.1142A>G (p.His381Arg) rs1558557428
NM_000478.6(ALPL):c.1143C>G (p.His381Gln) rs749419329
NM_000478.6(ALPL):c.1144G>A (p.Val382Ile) rs771540767
NM_000478.6(ALPL):c.1144G>C (p.Val382Leu)
NM_000478.6(ALPL):c.1145T>A (p.Val382Asp) rs2148190075
NM_000478.6(ALPL):c.114del (p.Lys38fs) rs1057517321
NM_000478.6(ALPL):c.1157G>A (p.Gly386Asp)
NM_000478.6(ALPL):c.1162T>C (p.Tyr388His) rs1644722881
NM_000478.6(ALPL):c.1162T>G (p.Tyr388Asp)
NM_000478.6(ALPL):c.1163A>G (p.Tyr388Cys) rs1644722925
NM_000478.6(ALPL):c.1165A>C (p.Thr389Pro)
NM_000478.6(ALPL):c.1171C>A (p.Arg391Ser)
NM_000478.6(ALPL):c.1171del (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1171dup (p.Arg391fs) rs751404811
NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs) rs1344601362
NM_000478.6(ALPL):c.1183A>T (p.Ile395Phe) rs772682471
NM_000478.6(ALPL):c.1189+5del rs1208855163
NM_000478.6(ALPL):c.118G>A (p.Ala40Thr) rs1455153945
NM_000478.6(ALPL):c.1195G>T (p.Ala399Ser) rs2148192290
NM_000478.6(ALPL):c.1196C>T (p.Ala399Val)
NM_000478.6(ALPL):c.1216_1219del (p.Asp406fs) rs1553414843
NM_000478.6(ALPL):c.1217A>G (p.Asp406Gly)
NM_000478.6(ALPL):c.1240C>G (p.Leu414Val)
NM_000478.6(ALPL):c.1241T>C (p.Leu414Pro)
NM_000478.6(ALPL):c.1243T>G (p.Tyr415Asp) rs2148192455
NM_000478.6(ALPL):c.1247G>A (p.Gly416Asp) rs2148192467
NM_000478.6(ALPL):c.1247G>T (p.Gly416Val)
NM_000478.6(ALPL):c.1258G>A (p.Gly420Ser)
NM_000478.6(ALPL):c.1259G>A (p.Gly420Asp)
NM_000478.6(ALPL):c.1259G>C (p.Gly420Ala)
NM_000478.6(ALPL):c.1267G>A (p.Val423Met)
NM_000478.6(ALPL):c.1268T>C (p.Val423Ala) rs2148192552
NM_000478.6(ALPL):c.1277G>A (p.Gly426Asp)
NM_000478.6(ALPL):c.1283G>A (p.Arg428Gln)
NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys) rs1553414868
NM_000478.6(ALPL):c.1292T>C (p.Val431Ala)
NM_000478.6(ALPL):c.129del (p.Gln44fs) rs763244290
NM_000478.6(ALPL):c.130C>T (p.Gln44Ter) rs1057516293
NM_000478.6(ALPL):c.1324C>T (p.Gln442Ter) rs1553415035
NM_000478.6(ALPL):c.1327G>A (p.Ala443Thr)
NM_000478.6(ALPL):c.1328C>G (p.Ala443Gly)
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val) rs768053120
NM_000478.6(ALPL):c.1331A>G (p.Gln444Arg) rs1644752699
NM_000478.6(ALPL):c.1336G>A (p.Ala446Thr) rs2148194520
NM_000478.6(ALPL):c.1340T>C (p.Val447Ala) rs1570309482
NM_000478.6(ALPL):c.1343C>T (p.Pro448Leu) rs1131691372
NM_000478.6(ALPL):c.1356G>T (p.Glu452Asp)
NM_000478.6(ALPL):c.1360C>T (p.His454Tyr) rs2148194615
NM_000478.6(ALPL):c.1364G>A (p.Gly455Asp) rs1289406215
NM_000478.6(ALPL):c.1366G>A (p.Gly456Arg) rs121918016
NM_000478.6(ALPL):c.1367G>A (p.Gly456Glu) rs1644753808
NM_000478.6(ALPL):c.1372del (p.Asp458fs)
NM_000478.6(ALPL):c.1396C>G (p.Pro466Ala)
NM_000478.6(ALPL):c.1397C>G (p.Pro466Arg)
NM_000478.6(ALPL):c.1400T>C (p.Met467Thr) rs763073466
NM_000478.6(ALPL):c.1402G>T (p.Ala468Ser) rs1196976671
NM_000478.6(ALPL):c.140A>T (p.Asn47Ile) rs2148151094
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser) rs1644755212
NM_000478.6(ALPL):c.1418G>A (p.Gly473Asp) rs2148194946
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys) rs1057517173
NM_000478.6(ALPL):c.1426G>C (p.Glu476Gln) rs1057517173
NM_000478.6(ALPL):c.1426G>T (p.Glu476Ter) rs1057517173
NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala) rs2148195004
NM_000478.6(ALPL):c.1427A>G (p.Glu476Gly) rs2148195004
NM_000478.6(ALPL):c.1436A>G (p.Tyr479Cys)
NM_000478.6(ALPL):c.1439del (p.Val480fs)
NM_000478.6(ALPL):c.1444C>T (p.His482Tyr)
NM_000478.6(ALPL):c.1444dup (p.His482fs)
NM_000478.6(ALPL):c.1451T>G (p.Met484Arg) rs1558558939
NM_000478.6(ALPL):c.145A>G (p.Asn49Asp)
NM_000478.6(ALPL):c.1468A>T (p.Ile490Phe)
NM_000478.6(ALPL):c.146A>T (p.Asn49Ile) rs868522953
NM_000478.6(ALPL):c.1489T>A (p.Cys497Ser)
NM_000478.6(ALPL):c.1499_1500delinsG (p.Ala500fs)
NM_000478.6(ALPL):c.152C>T (p.Ala51Val)
NM_000478.6(ALPL):c.1530_1549del (p.Leu512fs) rs1057517337
NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs) rs772638759
NM_000478.6(ALPL):c.1558_1559del (p.Leu520fs) rs1553415164
NM_000478.6(ALPL):c.176G>A (p.Gly59Glu)
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.182-2A>G rs2148152217
NM_000478.6(ALPL):c.182G>A (p.Gly61Glu)
NM_000478.6(ALPL):c.187G>T (p.Gly63Cys)
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) rs1490668038
NM_000478.6(ALPL):c.194C>A (p.Ser65Tyr) rs1644478359
NM_000478.6(ALPL):c.203C>T (p.Thr68Met) rs1644478533
NM_000478.6(ALPL):c.205_212del (p.Ala69fs) rs1553411896
NM_000478.6(ALPL):c.211C>A (p.Arg71Ser)
NM_000478.6(ALPL):c.211C>T (p.Arg71Cys) rs121918001
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro) rs121918003
NM_000478.6(ALPL):c.214A>G (p.Ile72Val) rs2148152364
NM_000478.6(ALPL):c.223G>A (p.Gly75Ser) rs1304394441
NM_000478.6(ALPL):c.225_228dup (p.Leu77fs) rs1553411920
NM_000478.6(ALPL):c.226C>T (p.Gln76Ter)
NM_000478.6(ALPL):c.237_238del (p.His79fs)
NM_000478.6(ALPL):c.244G>A (p.Gly82Arg)
NM_000478.6(ALPL):c.244G>C (p.Gly82Arg)
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter) rs2148152544
NM_000478.6(ALPL):c.278C>T (p.Pro93Leu)
NM_000478.6(ALPL):c.284T>A (p.Val95Glu) rs2148152665
NM_000478.6(ALPL):c.286G>C (p.Ala96Pro)
NM_000478.6(ALPL):c.295A>G (p.Lys99Glu)
NM_000478.6(ALPL):c.297+2T>A rs1057517304
NM_000478.6(ALPL):c.29T>C (p.Ile10Thr)
NM_000478.6(ALPL):c.302A>G (p.Tyr101Cys) rs2148158064
NM_000478.6(ALPL):c.303del (p.Thr100_Tyr101insTer) rs1553412246
NM_000478.6(ALPL):c.305A>T (p.Asn102Ile)
NM_000478.6(ALPL):c.318G>C (p.Gln106His) rs1553412268
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser) rs1384701659
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup) rs931041761
NM_000478.6(ALPL):c.337ACCGCC[3] (p.113TA[3]) rs2148158314
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr) rs1320839573
NM_000478.6(ALPL):c.344C>T (p.Thr115Ile)
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr) rs121918013
NM_000478.6(ALPL):c.346G>T (p.Ala116Ser) rs121918013
NM_000478.6(ALPL):c.351C>G (p.Tyr117Ter)
NM_000478.6(ALPL):c.358G>A (p.Gly120Arg)
NM_000478.6(ALPL):c.361G>A (p.Val121Met) rs1476072388
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp) rs1188506084
NM_000478.6(ALPL):c.385G>A (p.Gly129Arg)
NM_000478.6(ALPL):c.386G>A (p.Gly129Glu)
NM_000478.6(ALPL):c.392del (p.Ser131fs) rs1553412310
NM_000478.6(ALPL):c.394G>A (p.Ala132Thr) rs757771793
NM_000478.6(ALPL):c.394del (p.Ala132fs)
NM_000478.6(ALPL):c.395C>G (p.Ala132Gly) rs1558548925
NM_000478.6(ALPL):c.395C>T (p.Ala132Val) rs1558548925
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) rs786204530
NM_000478.6(ALPL):c.406C>T (p.Arg136Cys) rs747762186
NM_000478.6(ALPL):c.407G>C (p.Arg136Pro) rs121918011
NM_000478.6(ALPL):c.413G>C (p.Arg138Pro)
NM_000478.6(ALPL):c.416G>A (p.Cys139Tyr)
NM_000478.6(ALPL):c.41T>C (p.Leu14Pro) rs2148135377
NM_000478.6(ALPL):c.422C>A (p.Thr141Asn) rs916300043
NM_000478.6(ALPL):c.427del (p.Gln143fs) rs760134827
NM_000478.6(ALPL):c.434_437del (p.Asn145fs)
NM_000478.6(ALPL):c.436G>C (p.Glu146Gln)
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) rs1644512630
NM_000478.6(ALPL):c.46_49del (p.Asn16fs) rs1057516230
NM_000478.6(ALPL):c.473-1G>A
NM_000478.6(ALPL):c.500C>A (p.Thr167Lys) rs1408325840
NM_000478.6(ALPL):c.500C>T (p.Thr167Met) rs1408325840
NM_000478.6(ALPL):c.508A>G (p.Asn170Asp) rs2148161378
NM_000478.6(ALPL):c.511C>G (p.His171Asp)
NM_000478.6(ALPL):c.511del (p.His171fs)
NM_000478.6(ALPL):c.517A>G (p.Thr173Ala)
NM_000478.6(ALPL):c.520C>T (p.Pro174Ser)
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000478.6(ALPL):c.527C>T (p.Ala176Val)
NM_000478.6(ALPL):c.529G>T (p.Ala177Ser)
NM_000478.6(ALPL):c.534C>G (p.Tyr178Ter)
NM_000478.6(ALPL):c.536C>T (p.Ala179Val) rs748250829
NM_000478.6(ALPL):c.542C>G (p.Ser181Trp) rs199590449
NM_000478.6(ALPL):c.547G>A (p.Asp183Asn) rs1644529037
NM_000478.6(ALPL):c.550C>G (p.Arg184Gly)
NM_000478.6(ALPL):c.567_568del (p.Asp189fs)
NM_000478.6(ALPL):c.568_570del (p.Asn190del) rs1644529451
NM_000478.6(ALPL):c.571G>C (p.Glu191Gln)
NM_000478.6(ALPL):c.573_574del (p.Glu191fs)
NM_000478.6(ALPL):c.581_582del (p.Pro194fs)
NM_000478.6(ALPL):c.598G>A (p.Gly200Ser) rs1570276921
NM_000478.6(ALPL):c.601T>C (p.Cys201Arg) rs2148161800
NM_000478.6(ALPL):c.61+2T>G rs764322898
NM_000478.6(ALPL):c.62-1G>A
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) rs121918004
NM_000478.6(ALPL):c.643A>G (p.Ile215Val)
NM_000478.6(ALPL):c.649-1G>A rs2148171286
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys) rs1553413155
NM_000478.6(ALPL):c.658G>A (p.Gly220Arg) rs747488546
NM_000478.6(ALPL):c.659G>A (p.Gly220Glu)
NM_000478.6(ALPL):c.659G>T (p.Gly220Val)
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg) rs769020799
NM_000478.6(ALPL):c.661G>T (p.Gly221Cys) rs769020799
NM_000478.6(ALPL):c.662G>T (p.Gly221Val)
NM_000478.6(ALPL):c.662dup (p.Gly222fs) rs769948289
NM_000478.6(ALPL):c.671A>T (p.Lys224Ile)
NM_000478.6(ALPL):c.675_676insCA (p.Met226fs)
NM_000478.6(ALPL):c.681C>A (p.Tyr227Ter)
NM_000478.6(ALPL):c.69_74del rs2148150789
NM_000478.6(ALPL):c.705G>T (p.Glu235Asp) rs2148171627
NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys)
NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr) rs1416572796
NM_000478.6(ALPL):c.716_719delinsTAATGT (p.Asp239fs)
NM_000478.6(ALPL):c.746G>C (p.Gly249Ala) rs121918018
NM_000478.6(ALPL):c.746G>T (p.Gly249Val) rs121918018
NM_000478.6(ALPL):c.750_751del (p.Asp251fs)
NM_000478.6(ALPL):c.792+1G>A
NM_000478.6(ALPL):c.792+1G>C
NM_000478.6(ALPL):c.793-30_793-11del
NM_000478.6(ALPL):c.799del (p.His267fs)
NM_000478.6(ALPL):c.802T>C (p.Phe268Leu)
NM_000478.6(ALPL):c.814del (p.Arg272fs)
NM_000478.6(ALPL):c.823C>T (p.Leu275Phe)
NM_000478.6(ALPL):c.841del (p.His281fs) rs1057516526
NM_000478.6(ALPL):c.862+1G>A rs1553413512
NM_000478.6(ALPL):c.862+2T>G
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys) rs786204473
NM_000478.6(ALPL):c.871G>C (p.Glu291Gln)
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr) rs765458125
NM_000478.6(ALPL):c.874C>T (p.Pro292Ser)
NM_000478.6(ALPL):c.876_882delinsT (p.Gly293_Asp294del) rs1553414078
NM_000478.6(ALPL):c.877_882del (p.Gly293_Asp294del)
NM_000478.6(ALPL):c.87G>A (p.Trp29Ter) rs1553411779
NM_000478.6(ALPL):c.880G>A (p.Asp294Asn)
NM_000478.6(ALPL):c.881A>G (p.Asp294Gly)
NM_000478.6(ALPL):c.883A>G (p.Met295Val)
NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter) rs755529290
NM_000478.6(ALPL):c.894G>T (p.Glu298Asp)
NM_000478.6(ALPL):c.903del (p.Asn302fs) rs768160006
NM_000478.6(ALPL):c.907_908insCACG (p.Asn303fs)
NM_000478.6(ALPL):c.919C>T (p.Pro307Ser)
NM_000478.6(ALPL):c.928_929del (p.Ser310fs) rs1057516702
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter) rs1209147330
NM_000478.6(ALPL):c.952C>T (p.Gln318Ter)
NM_000478.6(ALPL):c.963del (p.Lys322fs) rs1553414133
NM_000478.6(ALPL):c.967A>G (p.Asn323Asp) rs2148184736
NM_000478.6(ALPL):c.969C>A (p.Asn323Lys)
NM_000478.6(ALPL):c.969C>G (p.Asn323Lys)
NM_000478.6(ALPL):c.976G>C (p.Gly326Arg) rs1644687066
NM_000478.6(ALPL):c.978CTT[2] (p.Phe328del) rs753338851
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys) rs779832611
NM_000478.6(ALPL):c.98C>G (p.Ala33Gly)
NM_000478.6(ALPL):c.997+3A>C rs1553414147
NM_000478.6(ALPL):c.997G>T (p.Gly333Ter) rs2148184880
NM_000478.6(ALPL):c.998-2A>G rs1057516622
NM_001177520.3(ALPL):c.66+353dup rs1553411890

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