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)
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|
|
NM_000478.6(ALPL):c.386G>A (p.Gly129Glu)
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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)
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|
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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
|
|