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.436G>A (p.Glu146Lys)
|
rs138587317
|
0.00015
|
NM_000478.6(ALPL):c.575T>C (p.Met192Thr)
|
rs765011829
|
0.00007
|
NM_000478.6(ALPL):c.881A>C (p.Asp294Ala)
|
rs121918002
|
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.529G>A (p.Ala177Thr)
|
rs199669988
|
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.673T>C (p.Tyr225His)
|
rs759125473
|
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.677T>C (p.Met226Thr)
|
rs752641050
|
0.00002
|
NM_000478.6(ALPL):c.815G>A (p.Arg272His)
|
rs781272386
|
0.00002
|
NM_000478.6(ALPL):c.876_881del (p.Gly293_Asp294del)
|
rs1360625972
|
0.00002
|
NM_000478.6(ALPL):c.1022A>G (p.His341Arg)
|
rs1382219911
|
0.00001
|
NM_000478.6(ALPL):c.1130C>T (p.Ala377Val)
|
rs756418235
|
0.00001
|
NM_000478.6(ALPL):c.1133A>T (p.Asp378Val)
|
rs121918008
|
0.00001
|
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)
|
rs371243939
|
0.00001
|
NM_000478.6(ALPL):c.1172G>A (p.Arg391His)
|
rs1442918125
|
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.1190G>A (p.Gly397Asp)
|
rs1400042777
|
0.00001
|
NM_000478.6(ALPL):c.119C>T (p.Ala40Val)
|
rs770093969
|
0.00001
|
NM_000478.6(ALPL):c.1282C>T (p.Arg428Ter)
|
rs759017288
|
0.00001
|
NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys)
|
rs966212736
|
0.00001
|
NM_000478.6(ALPL):c.1375G>A (p.Val459Met)
|
rs1054159992
|
0.00001
|
NM_000478.6(ALPL):c.1402G>A (p.Ala468Thr)
|
rs1196976671
|
0.00001
|
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)
|
rs766656419
|
0.00001
|
NM_000478.6(ALPL):c.1444C>A (p.His482Asn)
|
rs780857373
|
0.00001
|
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg)
|
rs1413274209
|
0.00001
|
NM_000478.6(ALPL):c.1559del (p.Leu520fs)
|
rs387906525
|
0.00001
|
NM_000478.6(ALPL):c.212G>A (p.Arg71His)
|
rs121918003
|
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.350A>G (p.Tyr117Cys)
|
rs1374504617
|
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.648+1G>A
|
rs749544042
|
0.00001
|
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln)
|
rs199665722
|
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.814C>T (p.Arg272Cys)
|
rs121918020
|
0.00001
|
NM_000478.6(ALPL):c.88C>T (p.Arg30Ter)
|
rs1057516334
|
0.00001
|
NM_000478.6(ALPL):c.920C>T (p.Pro307Leu)
|
rs768555495
|
0.00001
|
NM_000478.6(ALPL):c.931G>A (p.Glu311Lys)
|
rs763457259
|
0.00001
|
NM_000478.6(ALPL):c.98C>T (p.Ala33Val)
|
rs121918005
|
0.00001
|
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter)
|
rs768976020
|
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.(21836011_21880470)_(21880636_21887118)del
|
|
|
NC_000001.10:g.(?_21880565)_(21904151_?)del
|
|
|
NC_000001.10:g.(?_21887099)_(21904141_?)del
|
|
|
NC_000001.10:g.(?_21887109)_(21887715_?)del
|
|
|
NC_000001.10:g.(?_21896788)_(21896877_?)del
|
|
|
NC_000001.10:g.(?_21900138)_(21900312_?)del
|
|
|
NC_000001.11:g.(?_21554072)_(21554152_?)del
|
|
|
NC_000001.11:g.(?_21560626)_(21564216_?)del
|
|
|
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)
|
rs121918009
|
|
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.1016G>A (p.Gly339Glu)
|
|
|
NM_000478.6(ALPL):c.1017dup (p.His340fs)
|
rs764908423
|
|
NM_000478.6(ALPL):c.1023T>A (p.His341Gln)
|
rs1280398041
|
|
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.1077C>G (p.Ile359Met)
|
rs567349821
|
|
NM_000478.6(ALPL):c.1078_1081dup (p.Gln361fs)
|
rs1172381352
|
|
NM_000478.6(ALPL):c.1088_1091dup (p.Ser364fs)
|
rs1057517322
|
|
NM_000478.6(ALPL):c.1098CTC[1] (p.Ser368del)
|
rs1558557341
|
|
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.1142A>G (p.His381Arg)
|
rs1558557428
|
|
NM_000478.6(ALPL):c.1144G>A (p.Val382Ile)
|
rs771540767
|
|
NM_000478.6(ALPL):c.1162T>C (p.Tyr388His)
|
rs1644722881
|
|
NM_000478.6(ALPL):c.1164C>A (p.Tyr388Ter)
|
rs2148190118
|
|
NM_000478.6(ALPL):c.1171del (p.Arg391fs)
|
rs751404811
|
|
NM_000478.6(ALPL):c.1171dup (p.Arg391fs)
|
rs751404811
|
|
NM_000478.6(ALPL):c.1184T>C (p.Ile395Thr)
|
|
|
NM_000478.6(ALPL):c.1185_1188del (p.Ile395fs)
|
|
|
NM_000478.6(ALPL):c.1190-2A>T
|
rs1644739549
|
|
NM_000478.6(ALPL):c.1214_1215del (p.Thr405fs)
|
|
|
NM_000478.6(ALPL):c.1228T>C (p.Phe410Leu)
|
rs1644740176
|
|
NM_000478.6(ALPL):c.1231A>G (p.Thr411Ala)
|
rs2148192403
|
|
NM_000478.6(ALPL):c.1240C>A (p.Leu414Met)
|
rs2148192444
|
|
NM_000478.6(ALPL):c.1257dup (p.Gly420fs)
|
|
|
NM_000478.6(ALPL):c.1259G>C (p.Gly420Ala)
|
|
|
NM_000478.6(ALPL):c.1268T>C (p.Val423Ala)
|
rs2148192552
|
|
NM_000478.6(ALPL):c.1276G>A (p.Gly426Ser)
|
rs770548228
|
|
NM_000478.6(ALPL):c.1277G>A (p.Gly426Asp)
|
|
|
NM_000478.6(ALPL):c.1283G>A (p.Arg428Gln)
|
|
|
NM_000478.6(ALPL):c.1283G>C (p.Arg428Pro)
|
rs1644741201
|
|
NM_000478.6(ALPL):c.1286_1299dup (p.Val434fs)
|
rs2148192656
|
|
NM_000478.6(ALPL):c.129del (p.Gln44fs)
|
rs763244290
|
|
NM_000478.6(ALPL):c.1302_1306dup (p.Tyr436fs)
|
|
|
NM_000478.6(ALPL):c.1306T>C (p.Tyr436His)
|
rs121918006
|
|
NM_000478.6(ALPL):c.130C>T (p.Gln44Ter)
|
rs1057516293
|
|
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val)
|
rs768053120
|
|
NM_000478.6(ALPL):c.1361del (p.His454fs)
|
|
|
NM_000478.6(ALPL):c.1362_1399del (p.Gly456fs)
|
|
|
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>C (p.Gly456Ala)
|
rs1644753808
|
|
NM_000478.6(ALPL):c.1375G>T (p.Val459Leu)
|
rs1054159992
|
|
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser)
|
rs1644755212
|
|
NM_000478.6(ALPL):c.1426G>A (p.Glu476Lys)
|
rs1057517173
|
|
NM_000478.6(ALPL):c.1427A>C (p.Glu476Ala)
|
rs2148195004
|
|
NM_000478.6(ALPL):c.1429C>A (p.Gln477Lys)
|
|
|
NM_000478.6(ALPL):c.1429C>T (p.Gln477Ter)
|
|
|
NM_000478.6(ALPL):c.1435del (p.Tyr479fs)
|
|
|
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val)
|
rs1229517379
|
|
NM_000478.6(ALPL):c.146A>G (p.Asn49Ser)
|
|
|
NM_000478.6(ALPL):c.1474del (p.Ala492fs)
|
rs1558558976
|
|
NM_000478.6(ALPL):c.1479C>A (p.Asn493Lys)
|
rs759758484
|
|
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser)
|
rs761079751
|
|
NM_000478.6(ALPL):c.1532_1533insC (p.Leu512fs)
|
|
|
NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs)
|
rs772638759
|
|
NM_000478.6(ALPL):c.178G>C (p.Asp60His)
|
rs1644472852
|
|
NM_000478.6(ALPL):c.182-2A>G
|
rs2148152217
|
|
NM_000478.6(ALPL):c.18del (p.Val7fs)
|
rs1558543066
|
|
NM_000478.6(ALPL):c.1A>G (p.Met1Val)
|
rs2148135255
|
|
NM_000478.6(ALPL):c.203C>T (p.Thr68Met)
|
rs1644478533
|
|
NM_000478.6(ALPL):c.211C>A (p.Arg71Ser)
|
|
|
NM_000478.6(ALPL):c.211C>G (p.Arg71Gly)
|
|
|
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.21_32delinsGTGT (p.Leu8fs)
|
rs1644366950
|
|
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.247G>T (p.Glu83Ter)
|
rs2148152544
|
|
NM_000478.6(ALPL):c.262G>A (p.Glu88Lys)
|
rs1045735640
|
|
NM_000478.6(ALPL):c.298-1G>A
|
|
|
NM_000478.6(ALPL):c.299_300insT (p.Tyr101fs)
|
|
|
NM_000478.6(ALPL):c.318G>C (p.Gln106His)
|
rs1553412268
|
|
NM_000478.6(ALPL):c.323C>T (p.Pro108Leu)
|
rs121918015
|
|
NM_000478.6(ALPL):c.334G>A (p.Gly112Ser)
|
rs1384701659
|
|
NM_000478.6(ALPL):c.335G>C (p.Gly112Ala)
|
rs2148158307
|
|
NM_000478.6(ALPL):c.335_340dup (p.Gly112_Thr113dup)
|
rs931041761
|
|
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr)
|
rs1320839573
|
|
NM_000478.6(ALPL):c.346G>A (p.Ala116Thr)
|
rs121918013
|
|
NM_000478.6(ALPL):c.350_355del (p.Tyr117_Leu118del)
|
|
|
NM_000478.6(ALPL):c.360_361del (p.Val121fs)
|
rs751994699
|
|
NM_000478.6(ALPL):c.368C>A (p.Ala123Asp)
|
rs1188506084
|
|
NM_000478.6(ALPL):c.382G>A (p.Val128Met)
|
|
|
NM_000478.6(ALPL):c.388del (p.Gly129_Val130insTer)
|
|
|
NM_000478.6(ALPL):c.388dup (p.Val130fs)
|
rs1644509908
|
|
NM_000478.6(ALPL):c.392del (p.Ser131fs)
|
rs1553412310
|
|
NM_000478.6(ALPL):c.3G>C (p.Met1Ile)
|
|
|
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.412del (p.Arg138fs)
|
rs1312528958
|
|
NM_000478.6(ALPL):c.412dup (p.Arg138fs)
|
|
|
NM_000478.6(ALPL):c.422C>A (p.Thr141Asn)
|
rs916300043
|
|
NM_000478.6(ALPL):c.427del (p.Gln143fs)
|
rs760134827
|
|
NM_000478.6(ALPL):c.443C>T (p.Thr148Ile)
|
|
|
NM_000478.6(ALPL):c.46_49del (p.Asn16fs)
|
rs1057516230
|
|
NM_000478.6(ALPL):c.472+5G>C
|
rs1558549099
|
|
NM_000478.6(ALPL):c.480del (p.Val161fs)
|
rs1644527306
|
|
NM_000478.6(ALPL):c.485G>T (p.Gly162Val)
|
rs121918012
|
|
NM_000478.6(ALPL):c.500C>T (p.Thr167Met)
|
rs1408325840
|
|
NM_000478.6(ALPL):c.512A>G (p.His171Arg)
|
|
|
NM_000478.6(ALPL):c.518C>T (p.Thr173Ile)
|
|
|
NM_000478.6(ALPL):c.522del (p.Ser175fs)
|
rs750174638
|
|
NM_000478.6(ALPL):c.534C>A (p.Tyr178Ter)
|
rs201250289
|
|
NM_000478.6(ALPL):c.534C>G (p.Tyr178Ter)
|
|
|
NM_000478.6(ALPL):c.551G>A (p.Arg184Gln)
|
rs1558549798
|
|
NM_000478.6(ALPL):c.558G>A (p.Trp186Ter)
|
rs2148161624
|
|
NM_000478.6(ALPL):c.561C>A (p.Tyr187Ter)
|
|
|
NM_000478.6(ALPL):c.568_570del (p.Asn190del)
|
rs1644529451
|
|
NM_000478.6(ALPL):c.571G>T (p.Glu191Ter)
|
rs121918007
|
|
NM_000478.6(ALPL):c.572A>G (p.Glu191Gly)
|
rs1644529717
|
|
NM_000478.6(ALPL):c.581_582del (p.Pro194fs)
|
|
|
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro)
|
rs121918004
|
|
NM_000478.6(ALPL):c.648+1G>T
|
|
|
NM_000478.6(ALPL):c.649_650insC (p.Val217fs)
|
|
|
NM_000478.6(ALPL):c.649_650insCTA (p.Val217delinsAlaMet)
|
|
|
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>C (p.Gly220Ala)
|
rs1644592603
|
|
NM_000478.6(ALPL):c.659G>T (p.Gly220Val)
|
|
|
NM_000478.6(ALPL):c.661G>C (p.Gly221Arg)
|
rs769020799
|
|
NM_000478.6(ALPL):c.662del (p.Gly221fs)
|
rs769948289
|
|
NM_000478.6(ALPL):c.662dup (p.Gly222fs)
|
rs769948289
|
|
NM_000478.6(ALPL):c.670A>G (p.Lys224Glu)
|
rs1226800998
|
|
NM_000478.6(ALPL):c.681C>A (p.Tyr227Ter)
|
|
|
NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys)
|
|
|
NM_000478.6(ALPL):c.715del (p.Asp239fs)
|
rs1644593994
|
|
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser)
|
rs1223142821
|
|
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)
|
rs121918018
|
|
NM_000478.6(ALPL):c.756_757insCC (p.Val253fs)
|
|
|
NM_000478.6(ALPL):c.768G>A (p.Trp256Ter)
|
|
|
NM_000478.6(ALPL):c.784A>T (p.Arg262Ter)
|
|
|
NM_000478.6(ALPL):c.793del (p.His265fs)
|
|
|
NM_000478.6(ALPL):c.814del (p.Arg272fs)
|
|
|
NM_000478.6(ALPL):c.815G>T (p.Arg272Leu)
|
rs781272386
|
|
NM_000478.6(ALPL):c.822_823del (p.Glu274fs)
|
|
|
NM_000478.6(ALPL):c.824T>C (p.Leu275Pro)
|
rs1237252052
|
|
NM_000478.6(ALPL):c.841del (p.His281fs)
|
rs1057516526
|
|
NM_000478.6(ALPL):c.855C>G (p.Tyr285Ter)
|
|
|
NM_000478.6(ALPL):c.863-147_884del
|
|
|
NM_000478.6(ALPL):c.871G>A (p.Glu291Lys)
|
rs786204473
|
|
NM_000478.6(ALPL):c.871G>T (p.Glu291Ter)
|
|
|
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr)
|
rs765458125
|
|
NM_000478.6(ALPL):c.874C>T (p.Pro292Ser)
|
|
|
NM_000478.6(ALPL):c.880del (p.Asp294fs)
|
|
|
NM_000478.6(ALPL):c.886C>T (p.Gln296Ter)
|
rs2148184336
|
|
NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter)
|
rs755529290
|
|
NM_000478.6(ALPL):c.891C>G (p.Tyr297Ter)
|
|
|
NM_000478.6(ALPL):c.896T>C (p.Leu299Pro)
|
rs2148184404
|
|
NM_000478.6(ALPL):c.923C>G (p.Ser308Ter)
|
rs376221105
|
|
NM_000478.6(ALPL):c.928_929del (p.Ser310fs)
|
rs1057516702
|
|
NM_000478.6(ALPL):c.930del (p.Glu311fs)
|
|
|
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter)
|
rs1209147330
|
|
NM_000478.6(ALPL):c.963del (p.Lys322fs)
|
rs1553414133
|
|
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.981C>G (p.Phe327Leu)
|
|
|
NM_000478.6(ALPL):c.997+2T>G
|
rs1057517391
|
|
NM_000478.6(ALPL):c.997G>T (p.Gly333Ter)
|
rs2148184880
|
|
NM_001177520.3(ALPL):c.66+353dup
|
rs1553411890
|
|