ClinVar Miner

List of variants in gene ALPL studied for not provided

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1108
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HGVS dbSNP gnomAD frequency
NM_000478.6(ALPL):c.473-70A>G rs1767428 0.98539
NM_000478.6(ALPL):c.330T>C (p.Ser110=) rs1780316 0.92311
NM_000478.6(ALPL):c.*126A>G rs1697406 0.87087
NM_000478.6(ALPL):c.473-148G>A rs1256335 0.79778
NM_000478.6(ALPL):c.997+128A>G rs2275370 0.76188
NM_000478.6(ALPL):c.298-263A>G rs1767429 0.45240
NM_000478.6(ALPL):c.62-300C>T rs2071424 0.32016
NM_000478.6(ALPL):c.649-290T>C rs10917008 0.28782
NM_000478.6(ALPL):c.862+58C>T rs2275375 0.25723
NM_000478.6(ALPL):c.1190-65C>A rs1780329 0.24659
NM_000478.6(ALPL):c.298-97C>T rs1256336 0.24412
NM_000478.6(ALPL):c.863-231C>G rs12732102 0.23811
NM_000478.6(ALPL):c.997+167A>C rs35488260 0.22000
NM_000478.6(ALPL):c.*233A>C rs1772719 0.18915
NM_000478.6(ALPL):c.876A>G (p.Pro292=) rs3200255 0.18763
NM_000478.6(ALPL):c.997+152A>G rs2275369 0.18559
NM_000478.6(ALPL):c.863-46G>A rs74063110 0.18536
NM_000478.6(ALPL):c.997+104A>C rs2275372 0.18496
NM_000478.6(ALPL):c.997+105G>T rs2275371 0.18496
NM_000478.6(ALPL):c.863-12C>G rs75829132 0.18464
NM_000478.6(ALPL):c.997+291A>G rs2275368 0.18323
NM_000478.6(ALPL):c.862+51G>A rs2275376 0.17994
NM_000478.6(ALPL):c.792+255G>C rs3738095 0.17898
NM_000478.6(ALPL):c.862+20G>T rs2275377 0.17895
NM_000478.6(ALPL):c.787T>C (p.Tyr263His) rs3200254 0.17878
NM_000478.6(ALPL):c.792+76T>C rs3738097 0.17870
NM_000478.6(ALPL):c.862+262T>C rs2275374 0.17856
NM_000478.6(ALPL):c.862+270G>C rs2275373 0.17853
NM_000478.6(ALPL):c.792+207C>T rs3738096 0.17174
NM_000478.6(ALPL):c.863-7T>C rs74063111 0.17114
NM_000478.6(ALPL):c.997+297C>T rs2275367 0.16921
NM_000478.6(ALPL):c.792+268C>T rs1256331 0.16098
NM_000478.6(ALPL):c.793-31C>T rs1256328 0.13784
NM_000478.6(ALPL):c.*388C>T rs2242420 0.11550
NM_000478.6(ALPL):c.*433A>G rs2242421 0.09301
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) rs34605986 0.07856
NM_000478.6(ALPL):c.792+208G>A rs35526713 0.07844
NM_000478.6(ALPL):c.330= (p.Ser110=) rs1780316 0.07689
NM_000478.6(ALPL):c.1309+46C>T rs4654760 0.07555
NM_000478.6(ALPL):c.792+45G>T rs3738098 0.07447
NM_000478.6(ALPL):c.298-222G>A rs3767152 0.07116
NM_000478.6(ALPL):c.998-288G>A rs61778392 0.06293
NM_000478.6(ALPL):c.1310-92A>G rs11588709 0.05751
NM_000478.6(ALPL):c.472+122A>G rs72874294 0.05313
NM_000478.6(ALPL):c.*305C>T rs76073898 0.02707
NM_000478.6(ALPL):c.648+147C>T rs115328321 0.02398
NM_000478.6(ALPL):c.1189+19G>T rs61778393 0.02227
NM_000478.6(ALPL):c.1310-85C>G rs74060010 0.01669
NM_000478.6(ALPL):c.863-279G>A rs149494237 0.01351
NM_000478.6(ALPL):c.473-220G>A rs143655090 0.01204
NM_000478.6(ALPL):c.298-147G>A rs115987196 0.01154
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_000478.6(ALPL):c.1309+240C>T rs183141968 0.01019
NM_000478.6(ALPL):c.862+28G>A rs60096575 0.00940
NM_000478.6(ALPL):c.61+121T>A rs112024500 0.00930
NM_000478.6(ALPL):c.649-256G>A rs114545502 0.00884
NM_000478.6(ALPL):c.62-63T>G rs111273276 0.00871
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417 0.00852
NM_000478.6(ALPL):c.998-286G>A rs76731989 0.00816
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_000478.6(ALPL):c.*204T>C rs116162120 0.00808
NM_000478.6(ALPL):c.648+295T>G rs77544754 0.00782
NM_000478.6(ALPL):c.1310-239A>C rs74343859 0.00690
NM_000478.6(ALPL):c.*66C>A rs78043671 0.00395
NM_000478.6(ALPL):c.863-53C>A rs138541760 0.00377
NM_000478.6(ALPL):c.297+92C>A rs182567506 0.00325
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_000478.6(ALPL):c.859T>C (p.Leu287=) rs141742288 0.00141
NM_000478.6(ALPL):c.473-12C>T rs147181132 0.00137
NM_000478.6(ALPL):c.182-15C>G rs201873253 0.00109
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_000478.6(ALPL):c.997+11C>T rs187255765 0.00105
NM_000478.6(ALPL):c.1482C>T (p.Leu494=) rs142545037 0.00102
NM_000478.6(ALPL):c.-104-5T>C rs184586988 0.00097
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_000478.6(ALPL):c.468C>T (p.Asp156=) rs143621566 0.00052
NM_000478.6(ALPL):c.744C>T (p.Asp248=) rs188689330 0.00047
NM_000478.6(ALPL):c.1574del (p.Phe524_Ter525insTer) rs764994176 0.00035
NM_000478.6(ALPL):c.1505C>T (p.Ser502Leu) rs550358395 0.00029
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334 0.00026
NM_000478.6(ALPL):c.1380C>T (p.Ala460=) rs371984578 0.00019
NM_000478.6(ALPL):c.413G>A (p.Arg138Gln) rs140167865 0.00017
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.914C>T (p.Thr305Met) rs146908399 0.00012
NM_000478.6(ALPL):c.1014C>T (p.His338=) rs147688908 0.00011
NM_000478.6(ALPL):c.1455G>A (p.Ala485=) rs188443578 0.00009
NM_000478.6(ALPL):c.420C>T (p.Asn140=) rs148982201 0.00009
NM_000478.6(ALPL):c.734C>T (p.Thr245Met) rs142608957 0.00009
NM_000478.6(ALPL):c.915G>A (p.Thr305=) rs527465409 0.00008
NM_000478.6(ALPL):c.1197C>T (p.Ala399=) rs764010876 0.00007
NM_000478.6(ALPL):c.1245T>C (p.Tyr415=) rs747539132 0.00007
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.1056G>A (p.Ala352=) rs774824768 0.00006
NM_000478.6(ALPL):c.1250A>G (p.Asn417Ser) rs121918014 0.00006
NM_000478.6(ALPL):c.1446C>T (p.His482=) rs747980975 0.00006
NM_000478.6(ALPL):c.1506G>A (p.Ser502=) rs751195005 0.00006
NM_000478.6(ALPL):c.371A>G (p.Asn124Ser) rs11586344 0.00006
NM_000478.6(ALPL):c.407G>A (p.Arg136His) rs121918011 0.00006
NM_000478.6(ALPL):c.40C>T (p.Leu14Phe) rs139214514 0.00006
NM_000478.6(ALPL):c.858A>G (p.Leu286=) rs375027534 0.00006
NM_000478.6(ALPL):c.862+19G>A rs773053030 0.00006
NM_000478.6(ALPL):c.863-20C>T rs368892776 0.00006
NM_000478.6(ALPL):c.961C>T (p.Arg321Trp) rs200133602 0.00006
NM_000478.6(ALPL):c.473-18G>A rs376690819 0.00005
NM_000478.6(ALPL):c.649-11G>C rs376565308 0.00005
NM_000478.6(ALPL):c.910G>A (p.Val304Met) rs745704006 0.00005
NM_000478.6(ALPL):c.918C>T (p.Asp306=) rs373257447 0.00005
NM_000478.6(ALPL):c.1070G>A (p.Arg357Gln) rs202022405 0.00004
NM_000478.6(ALPL):c.1131G>A (p.Ala377=) rs777986840 0.00004
NM_000478.6(ALPL):c.1190-18C>T rs759505834 0.00004
NM_000478.6(ALPL):c.1363G>A (p.Gly455Ser) rs149889416 0.00004
NM_000478.6(ALPL):c.1541C>T (p.Ala514Val) rs371373128 0.00004
NM_000478.6(ALPL):c.204G>A (p.Thr68=) rs537814225 0.00004
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) rs184095519 0.00004
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr) rs199669988 0.00004
NM_000478.6(ALPL):c.610A>G (p.Ile204Val) rs374558572 0.00004
NM_000478.6(ALPL):c.648C>T (p.Asp216=) rs201739155 0.00004
NM_000478.6(ALPL):c.717C>T (p.Asp239=) rs780024242 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.1190-8C>T rs760497225 0.00003
NM_000478.6(ALPL):c.1365C>T (p.Gly455=) rs370212283 0.00003
NM_000478.6(ALPL):c.1373A>G (p.Asp458Gly) rs1428657470 0.00003
NM_000478.6(ALPL):c.1425C>T (p.His475=) rs183381346 0.00003
NM_000478.6(ALPL):c.1479C>T (p.Asn493=) rs759758484 0.00003
NM_000478.6(ALPL):c.1540G>A (p.Ala514Thr) rs367657406 0.00003
NM_000478.6(ALPL):c.1562G>A (p.Ser521Asn) rs368326384 0.00003
NM_000478.6(ALPL):c.339C>T (p.Thr113=) rs377453516 0.00003
NM_000478.6(ALPL):c.341C>T (p.Ala114Val) rs762915678 0.00003
NM_000478.6(ALPL):c.492G>A (p.Val164=) rs750079676 0.00003
NM_000478.6(ALPL):c.528C>T (p.Ala176=) rs758330265 0.00003
NM_000478.6(ALPL):c.673T>C (p.Tyr225His) rs759125473 0.00003
NM_000478.6(ALPL):c.757G>A (p.Val253Ile) rs151270365 0.00003
NM_000478.6(ALPL):c.819G>A (p.Thr273=) rs372247799 0.00003
NM_000478.6(ALPL):c.863-15T>C rs373980626 0.00003
NM_000478.6(ALPL):c.892G>A (p.Glu298Lys) rs121918017 0.00003
NM_000478.6(ALPL):c.1176C>G (p.Gly392=) rs375767924 0.00002
NM_000478.6(ALPL):c.1275C>T (p.Gly425=) rs748883680 0.00002
NM_000478.6(ALPL):c.1348C>T (p.Arg450Cys) rs138690664 0.00002
NM_000478.6(ALPL):c.1353C>T (p.His451=) rs377110098 0.00002
NM_000478.6(ALPL):c.1362C>T (p.His454=) rs746554462 0.00002
NM_000478.6(ALPL):c.1374C>T (p.Asp458=) rs776664499 0.00002
NM_000478.6(ALPL):c.1416C>T (p.His472=) rs369433931 0.00002
NM_000478.6(ALPL):c.1437C>T (p.Tyr479=) rs527657489 0.00002
NM_000478.6(ALPL):c.1470C>T (p.Ile490=) rs771120248 0.00002
NM_000478.6(ALPL):c.1492G>A (p.Ala498Thr) rs754125867 0.00002
NM_000478.6(ALPL):c.241C>T (p.Pro81Ser) rs915866721 0.00002
NM_000478.6(ALPL):c.264G>A (p.Glu88=) rs749630641 0.00002
NM_000478.6(ALPL):c.26C>T (p.Ala9Val) rs772679576 0.00002
NM_000478.6(ALPL):c.303C>A (p.Tyr101Ter) rs746273959 0.00002
NM_000478.6(ALPL):c.306C>T (p.Asn102=) rs1015578994 0.00002
NM_000478.6(ALPL):c.44C>G (p.Thr15Ser) rs150849772 0.00002
NM_000478.6(ALPL):c.472+15C>G rs755813603 0.00002
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser) rs760029254 0.00002
NM_000478.6(ALPL):c.501G>A (p.Thr167=) rs1360689966 0.00002
NM_000478.6(ALPL):c.510C>T (p.Asn170=) rs373912990 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.675C>T (p.Tyr225=) rs920960980 0.00002
NM_000478.6(ALPL):c.677T>C (p.Met226Thr) rs752641050 0.00002
NM_000478.6(ALPL):c.782C>T (p.Pro261Leu) rs765149569 0.00002
NM_000478.6(ALPL):c.783G>A (p.Pro261=) rs537483743 0.00002
NM_000478.6(ALPL):c.815G>A (p.Arg272His) rs781272386 0.00002
NM_000478.6(ALPL):c.846T>C (p.Asn282=) rs779625059 0.00002
NM_000478.6(ALPL):c.863-8C>T rs775518662 0.00002
NM_000478.6(ALPL):c.876_881del (p.Gly293_Asp294del) rs1360625972 0.00002
NM_000478.6(ALPL):c.882C>T (p.Asp294=) rs1366524140 0.00002
NM_000478.6(ALPL):c.930C>T (p.Ser310=) rs750783677 0.00002
NM_000478.6(ALPL):c.997+14G>C rs1332490870 0.00002
NM_000478.6(ALPL):c.99G>A (p.Ala33=) rs772424729 0.00002
NM_000478.6(ALPL):c.9A>T (p.Ser3=) rs749406361 0.00002
NM_000478.6(ALPL):c.1022A>G (p.His341Arg) rs1382219911 0.00001
NM_000478.6(ALPL):c.1047G>T (p.Leu349=) rs771632536 0.00001
NM_000478.6(ALPL):c.1078G>A (p.Gly360Arg) rs749989499 0.00001
NM_000478.6(ALPL):c.109C>T (p.Leu37=) rs1205971311 0.00001
NM_000478.6(ALPL):c.1100C>T (p.Ser367Phe) rs1300239598 0.00001
NM_000478.6(ALPL):c.1101C>T (p.Ser367=) rs758332051 0.00001
NM_000478.6(ALPL):c.1103C>T (p.Ser368Leu) rs368809478 0.00001
NM_000478.6(ALPL):c.1104G>A (p.Ser368=) rs1309192825 0.00001
NM_000478.6(ALPL):c.111G>A (p.Leu37=) rs769035516 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.1143C>T (p.His381=) rs749419329 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.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.1189+9G>T rs762501991 0.00001
NM_000478.6(ALPL):c.1190-13C>G rs767422191 0.00001
NM_000478.6(ALPL):c.1190G>A (p.Gly397Asp) rs1400042777 0.00001
NM_000478.6(ALPL):c.1191T>C (p.Gly397=) rs1644739620 0.00001
NM_000478.6(ALPL):c.119C>T (p.Ala40Val) rs770093969 0.00001
NM_000478.6(ALPL):c.1208G>A (p.Ser403Asn) rs757564264 0.00001
NM_000478.6(ALPL):c.1227C>T (p.Pro409=) rs750530891 0.00001
NM_000478.6(ALPL):c.1271T>C (p.Val424Ala) rs1436960562 0.00001
NM_000478.6(ALPL):c.1274G>A (p.Gly425Asp) rs781543452 0.00001
NM_000478.6(ALPL):c.127C>T (p.Leu43Phe) rs148357203 0.00001
NM_000478.6(ALPL):c.1282C>T (p.Arg428Ter) rs759017288 0.00001
NM_000478.6(ALPL):c.1287G>A (p.Glu429=) rs1375819603 0.00001
NM_000478.6(ALPL):c.1296C>A (p.Ser432=) rs1280807181 0.00001
NM_000478.6(ALPL):c.1310C>T (p.Ala437Val) rs1437787933 0.00001
NM_000478.6(ALPL):c.1311T>C (p.Ala437=) rs1050277249 0.00001
NM_000478.6(ALPL):c.1329G>A (p.Ala443=) rs756394364 0.00001
NM_000478.6(ALPL):c.1349G>A (p.Arg450His) rs150799088 0.00001
NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys) rs966212736 0.00001
NM_000478.6(ALPL):c.135G>A (p.Lys45=) rs1420803033 0.00001
NM_000478.6(ALPL):c.1375G>A (p.Val459Met) rs1054159992 0.00001
NM_000478.6(ALPL):c.1389C>G (p.Ser463=) rs1045476437 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.1404G>A (p.Ala468=) rs774384124 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.1464C>T (p.Ala488=) rs749148162 0.00001
NM_000478.6(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209 0.00001
NM_000478.6(ALPL):c.1476C>T (p.Ala492=) rs774516408 0.00001
NM_000478.6(ALPL):c.147C>T (p.Asn49=) rs539884496 0.00001
NM_000478.6(ALPL):c.1512C>G (p.Gly504=) rs1347933667 0.00001
NM_000478.6(ALPL):c.1520C>T (p.Ala507Val) rs1446100831 0.00001
NM_000478.6(ALPL):c.1539C>T (p.Leu513=) rs529786148 0.00001
NM_000478.6(ALPL):c.1548C>G (p.Ala516=) rs922167498 0.00001
NM_000478.6(ALPL):c.1559del (p.Leu520fs) rs387906525 0.00001
NM_000478.6(ALPL):c.172C>T (p.Leu58=) rs867333918 0.00001
NM_000478.6(ALPL):c.181+8C>T rs1264609751 0.00001
NM_000478.6(ALPL):c.208G>A (p.Ala70Thr) rs147116628 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.22C>T (p.Leu8=) rs774559268 0.00001
NM_000478.6(ALPL):c.282C>T (p.Phe94=) rs746608270 0.00001
NM_000478.6(ALPL):c.283G>A (p.Val95Met) rs139811782 0.00001
NM_000478.6(ALPL):c.297+7C>T rs376180267 0.00001
NM_000478.6(ALPL):c.297+9C>A rs773328385 0.00001
NM_000478.6(ALPL):c.299C>T (p.Thr100Met) rs1201942473 0.00001
NM_000478.6(ALPL):c.300G>A (p.Thr100=) rs191778470 0.00001
NM_000478.6(ALPL):c.331G>A (p.Ala111Thr) rs773257111 0.00001
NM_000478.6(ALPL):c.333C>T (p.Ala111=) rs769379537 0.00001
NM_000478.6(ALPL):c.345C>T (p.Thr115=) rs770785345 0.00001
NM_000478.6(ALPL):c.350A>G (p.Tyr117Cys) rs1374504617 0.00001
NM_000478.6(ALPL):c.352C>A (p.Leu118Met) rs1284058976 0.00001
NM_000478.6(ALPL):c.381C>T (p.Thr127=) rs368714904 0.00001
NM_000478.6(ALPL):c.414G>T (p.Arg138=) rs1306553847 0.00001
NM_000478.6(ALPL):c.422C>T (p.Thr141Ile) rs916300043 0.00001
NM_000478.6(ALPL):c.431G>A (p.Gly144Glu) rs1291792579 0.00001
NM_000478.6(ALPL):c.454C>T (p.Arg152Cys) rs200621180 0.00001
NM_000478.6(ALPL):c.456C>T (p.Arg152=) rs527613008 0.00001
NM_000478.6(ALPL):c.459G>A (p.Trp153Ter) rs761836226 0.00001
NM_000478.6(ALPL):c.472+7C>T rs564375559 0.00001
NM_000478.6(ALPL):c.473-19C>T rs565752699 0.00001
NM_000478.6(ALPL):c.504A>G (p.Arg168=) rs1428484325 0.00001
NM_000478.6(ALPL):c.530C>T (p.Ala177Val) rs1114167438 0.00001
NM_000478.6(ALPL):c.531C>G (p.Ala177=) rs746782435 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.564A>T (p.Ser188=) rs774949653 0.00001
NM_000478.6(ALPL):c.582T>C (p.Pro194=) rs112063292 0.00001
NM_000478.6(ALPL):c.606G>A (p.Lys202=) rs200597048 0.00001
NM_000478.6(ALPL):c.610A>T (p.Ile204Phe) rs374558572 0.00001
NM_000478.6(ALPL):c.629A>G (p.His210Arg) rs748031071 0.00001
NM_000478.6(ALPL):c.642C>T (p.Asp214=) rs1185263961 0.00001
NM_000478.6(ALPL):c.648+10C>T rs774579331 0.00001
NM_000478.6(ALPL):c.648+1G>A rs749544042 0.00001
NM_000478.6(ALPL):c.650T>C (p.Val217Ala) rs777699004 0.00001
NM_000478.6(ALPL):c.660G>T (p.Gly220=) rs1558552231 0.00001
NM_000478.6(ALPL):c.668G>A (p.Arg223Gln) rs199665722 0.00001
NM_000478.6(ALPL):c.69G>A (p.Glu23=) rs912257857 0.00001
NM_000478.6(ALPL):c.701T>C (p.Val234Ala) rs779322468 0.00001
NM_000478.6(ALPL):c.745G>A (p.Gly249Ser) rs770539523 0.00001
NM_000478.6(ALPL):c.756C>T (p.Leu252=) rs867145238 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.862+14G>T rs1644629363 0.00001
NM_000478.6(ALPL):c.864T>C (p.Gly288=) rs754262699 0.00001
NM_000478.6(ALPL):c.870C>T (p.Phe290=) rs779115195 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.91G>A (p.Asp31Asn) rs757127456 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.962G>A (p.Arg321Gln) rs138679161 0.00001
NM_000478.6(ALPL):c.98C>T (p.Ala33Val) rs121918005 0.00001
NM_000478.6(ALPL):c.990G>A (p.Leu330=) rs747146797 0.00001
NM_000478.6(ALPL):c.994G>T (p.Glu332Ter) rs768976020 0.00001
NM_000478.6(ALPL):c.997+19C>A rs1446472691 0.00001
NM_000478.6(ALPL):c.997+1G>T rs1292415045 0.00001
NM_000478.6(ALPL):c.997+2T>A rs1057517391 0.00001
NM_000478.6(ALPL):c.998-10G>A rs1397271504 0.00001
NC_000001.10:g.(?_21880565)_(21904151_?)del
NC_000001.10:g.(?_21880575)_(21904141_?)dup
NC_000001.10:g.(?_21880585)_(21884063_?)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
NC_000001.11:g.(?_21573655)_(21573809_?)del
NC_000001.11:g.(?_21575723)_(21575934_?)del
NM_000478.4(ALPL):c.183dupG rs1553411890
NM_000478.6(ALPL):c.*124del rs140511985
NM_000478.6(ALPL):c.*65C>A rs1697405
NM_000478.6(ALPL):c.*65C>T rs1697405
NM_000478.6(ALPL):c.*694dup rs200291738
NM_000478.6(ALPL):c.-3A>C
NM_000478.6(ALPL):c.-6T>C
NM_000478.6(ALPL):c.1000G>A (p.Gly334Ser)
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.6(ALPL):c.1003A>C (p.Arg335=)
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.100_101del (p.Gln34fs)
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly) rs1219494274
NM_000478.6(ALPL):c.1011C>T (p.Asp337=) rs2148189603
NM_000478.6(ALPL):c.1015G>A (p.Gly339Arg) rs2148189619
NM_000478.6(ALPL):c.1015G>C (p.Gly339Arg)
NM_000478.6(ALPL):c.1016G>A (p.Gly339Glu)
NM_000478.6(ALPL):c.1017G>A (p.Gly339=)
NM_000478.6(ALPL):c.1017dup (p.His340fs) rs764908423
NM_000478.6(ALPL):c.1018C>T (p.His340Tyr)
NM_000478.6(ALPL):c.1023T>A (p.His341Gln) rs1280398041
NM_000478.6(ALPL):c.1023T>C (p.His341=)
NM_000478.6(ALPL):c.1028G>A (p.Gly343Glu)
NM_000478.6(ALPL):c.1034C>T (p.Ala345Val) rs1644719715
NM_000478.6(ALPL):c.1035C>T (p.Ala345=) rs1341203975
NM_000478.6(ALPL):c.1037A>C (p.Lys346Thr)
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.1045C>T (p.Leu349=) rs1644720046
NM_000478.6(ALPL):c.1048C>A (p.His350Asn)
NM_000478.6(ALPL):c.1053G>C (p.Glu351Asp)
NM_000478.6(ALPL):c.1055C>T (p.Ala352Val)
NM_000478.6(ALPL):c.1056G>T (p.Ala352=)
NM_000478.6(ALPL):c.1059G>A (p.Val353=)
NM_000478.6(ALPL):c.1062G>A (p.Glu354=)
NM_000478.6(ALPL):c.1062G>C (p.Glu354Asp) rs1553414568
NM_000478.6(ALPL):c.1065G>A (p.Met355Ile)
NM_000478.6(ALPL):c.1068C>T (p.Asp356=)
NM_000478.6(ALPL):c.1069C>T (p.Arg357Trp)
NM_000478.6(ALPL):c.106A>C (p.Thr36Pro) rs747167000
NM_000478.6(ALPL):c.1071G>A (p.Arg357=) rs2148189762
NM_000478.6(ALPL):c.1073C>T (p.Ala358Val)
NM_000478.6(ALPL):c.1075A>G (p.Ile359Val)
NM_000478.6(ALPL):c.1077C>G (p.Ile359Met) rs567349821
NM_000478.6(ALPL):c.1077C>T (p.Ile359=) rs567349821
NM_000478.6(ALPL):c.1078_1081dup (p.Gln361fs) rs1172381352
NM_000478.6(ALPL):c.107C>T (p.Thr36Ile) rs199952414
NM_000478.6(ALPL):c.1082A>G (p.Gln361Arg)
NM_000478.6(ALPL):c.1084G>A (p.Ala362Thr)
NM_000478.6(ALPL):c.1088_1091dup (p.Ser364fs) rs1057517322
NM_000478.6(ALPL):c.1089C>T (p.Gly363=)
NM_000478.6(ALPL):c.1092C>T (p.Ser364=) rs1644721221
NM_000478.6(ALPL):c.1094T>G (p.Leu365Trp) rs2148189860
NM_000478.6(ALPL):c.1097C>T (p.Thr366Ile)
NM_000478.6(ALPL):c.1098C>G (p.Thr366=) rs1400758804
NM_000478.6(ALPL):c.1098CTC[1] (p.Ser368del) rs1558557341
NM_000478.6(ALPL):c.1099T>A (p.Ser367Thr)
NM_000478.6(ALPL):c.1104G>T (p.Ser368=)
NM_000478.6(ALPL):c.110T>C (p.Leu37Pro)
NM_000478.6(ALPL):c.1110C>T (p.Asp370=) rs2148189915
NM_000478.6(ALPL):c.1112C>T (p.Thr371Ile)
NM_000478.6(ALPL):c.1113T>A (p.Thr371=)
NM_000478.6(ALPL):c.1114_1115del (p.Leu372fs) rs1553414600
NM_000478.6(ALPL):c.1116G>A (p.Leu372=)
NM_000478.6(ALPL):c.1132G>C (p.Asp378His) rs1553414611
NM_000478.6(ALPL):c.1132G>T (p.Asp378Tyr)
NM_000478.6(ALPL):c.1133A>G (p.Asp378Gly)
NM_000478.6(ALPL):c.1137T>C (p.His379=)
NM_000478.6(ALPL):c.1137T>G (p.His379Gln)
NM_000478.6(ALPL):c.1141C>G (p.His381Asp)
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.1145T>A (p.Val382Asp) rs2148190075
NM_000478.6(ALPL):c.1151C>G (p.Thr384Arg)
NM_000478.6(ALPL):c.1151C>T (p.Thr384Ile) rs2148190082
NM_000478.6(ALPL):c.1152A>T (p.Thr384=) rs1420358743
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.1164C>A (p.Tyr388Ter) rs2148190118
NM_000478.6(ALPL):c.1165A>C (p.Thr389Pro)
NM_000478.6(ALPL):c.1165A>G (p.Thr389Ala)
NM_000478.6(ALPL):c.1166C>G (p.Thr389Ser) rs746390776
NM_000478.6(ALPL):c.1167C>T (p.Thr389=) rs772412576
NM_000478.6(ALPL):c.1169C>G (p.Pro390Arg) rs983864892
NM_000478.6(ALPL):c.116A>G (p.Tyr39Cys)
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.1173T>C (p.Arg391=) rs2148190210
NM_000478.6(ALPL):c.1174G>A (p.Gly392Ser) rs1644724050
NM_000478.6(ALPL):c.1176C>T (p.Gly392=) rs375767924
NM_000478.6(ALPL):c.117T>C (p.Tyr39=) rs748438719
NM_000478.6(ALPL):c.1182T>A (p.Ser394=)
NM_000478.6(ALPL):c.1182T>C (p.Ser394=) rs764940488
NM_000478.6(ALPL):c.1183A>T (p.Ile395Phe) rs772682471
NM_000478.6(ALPL):c.1184T>C (p.Ile395Thr)
NM_000478.6(ALPL):c.1185_1188del (p.Ile395fs)
NM_000478.6(ALPL):c.1189+11C>A
NM_000478.6(ALPL):c.1189+11C>T rs201272867
NM_000478.6(ALPL):c.1189+12T>C
NM_000478.6(ALPL):c.1189+16T>C
NM_000478.6(ALPL):c.1189+17del
NM_000478.6(ALPL):c.1189+295GATG[11] rs371658562
NM_000478.6(ALPL):c.1189+295GATG[12] rs371658562
NM_000478.6(ALPL):c.1189+295GATG[8] rs371658562
NM_000478.6(ALPL):c.1189+5del rs1208855163
NM_000478.6(ALPL):c.1189+9G>C rs762501991
NM_000478.6(ALPL):c.118G>A (p.Ala40Thr) rs1455153945
NM_000478.6(ALPL):c.1190-10C>G
NM_000478.6(ALPL):c.1190-10C>T
NM_000478.6(ALPL):c.1190-12C>T
NM_000478.6(ALPL):c.1190-15C>A rs1644739262
NM_000478.6(ALPL):c.1190-16C>A
NM_000478.6(ALPL):c.1190-234TGGA[3] rs1361258901
NM_000478.6(ALPL):c.1190-235_1190-220del rs60717792
NM_000478.6(ALPL):c.1190-235_1190-228dup rs1182369387
NM_000478.6(ALPL):c.1190-251_1190-244del rs1558557884
NM_000478.6(ALPL):c.1190-251_1190-248del rs1558557899
NM_000478.6(ALPL):c.1190-256del rs879731243
NM_000478.6(ALPL):c.1190-260_1190-240del rs1558557870
NM_000478.6(ALPL):c.1190-260del rs879310003
NM_000478.6(ALPL):c.1190-267_1190-265del rs750945581
NM_000478.6(ALPL):c.1190-268_1190-267insGATGATGGATGGATGGATGGGTGGATGGATGGATGGATGGATGGATGGATG rs1553414701
NM_000478.6(ALPL):c.1190-3C>T
NM_000478.6(ALPL):c.1190-8_1190-7insA
NM_000478.6(ALPL):c.1195G>A (p.Ala399Thr)
NM_000478.6(ALPL):c.1195G>T (p.Ala399Ser) rs2148192290
NM_000478.6(ALPL):c.120C>T (p.Ala40=) rs1186366364
NM_000478.6(ALPL):c.1212C>T (p.Asp404=) rs2148192359
NM_000478.6(ALPL):c.1214C>G (p.Thr405Arg)
NM_000478.6(ALPL):c.1214_1215del (p.Thr405fs)
NM_000478.6(ALPL):c.1217A>G (p.Asp406Gly)
NM_000478.6(ALPL):c.1223A>G (p.Lys408Arg)
NM_000478.6(ALPL):c.1224G>A (p.Lys408=) rs1644740103
NM_000478.6(ALPL):c.1224G>T (p.Lys408Asn)
NM_000478.6(ALPL):c.1226C>T (p.Pro409Leu)
NM_000478.6(ALPL):c.1227C>G (p.Pro409=)
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.1232C>T (p.Thr411Ile) rs2148192417
NM_000478.6(ALPL):c.1233T>C (p.Thr411=) rs758911741
NM_000478.6(ALPL):c.1233T>G (p.Thr411=) rs758911741
NM_000478.6(ALPL):c.1239C>T (p.Ile413=)
NM_000478.6(ALPL):c.1240C>A (p.Leu414Met) rs2148192444
NM_000478.6(ALPL):c.1240C>G (p.Leu414Val)
NM_000478.6(ALPL):c.1241T>C (p.Leu414Pro)
NM_000478.6(ALPL):c.1247G>A (p.Gly416Asp) rs2148192467
NM_000478.6(ALPL):c.1251T>C (p.Asn417=) rs2148192495
NM_000478.6(ALPL):c.1257T>C (p.Pro419=) rs2148192510
NM_000478.6(ALPL):c.1257dup (p.Gly420fs)
NM_000478.6(ALPL):c.1259G>C (p.Gly420Ala)
NM_000478.6(ALPL):c.1262A>G (p.Tyr421Cys)
NM_000478.6(ALPL):c.1263C>T (p.Tyr421=) rs780762265
NM_000478.6(ALPL):c.1267G>A (p.Val423Met)
NM_000478.6(ALPL):c.1268T>C (p.Val423Ala) rs2148192552
NM_000478.6(ALPL):c.1269G>C (p.Val423=)
NM_000478.6(ALPL):c.1276G>A (p.Gly426Ser) rs770548228
NM_000478.6(ALPL):c.1277G>A (p.Gly426Asp)
NM_000478.6(ALPL):c.1278T>C (p.Gly426=) rs2148192597
NM_000478.6(ALPL):c.1280A>C (p.Glu427Ala) rs773907984
NM_000478.6(ALPL):c.1281A>G (p.Glu427=)
NM_000478.6(ALPL):c.1283G>A (p.Arg428Gln)
NM_000478.6(ALPL):c.1283G>C (p.Arg428Pro) rs1644741201
NM_000478.6(ALPL):c.1283G>T (p.Arg428Leu)
NM_000478.6(ALPL):c.1285G>A (p.Glu429Lys) rs1553414868
NM_000478.6(ALPL):c.1286_1299dup (p.Val434fs) rs2148192656
NM_000478.6(ALPL):c.1290T>C (p.Asn430=) rs200330153
NM_000478.6(ALPL):c.1292T>C (p.Val431Ala)
NM_000478.6(ALPL):c.1296C>G (p.Ser432=) rs1280807181
NM_000478.6(ALPL):c.129del (p.Gln44fs) rs763244290
NM_000478.6(ALPL):c.1302_1306dup (p.Tyr436fs)
NM_000478.6(ALPL):c.1305C>T (p.Asp435=) rs2148192715
NM_000478.6(ALPL):c.1309+12A>G
NM_000478.6(ALPL):c.1309+15A>G
NM_000478.6(ALPL):c.1309+18C>T
NM_000478.6(ALPL):c.1309+20G>T
NM_000478.6(ALPL):c.1309+5G>A
NM_000478.6(ALPL):c.1309+7C>T rs1644741819
NM_000478.6(ALPL):c.1309+8C>A
NM_000478.6(ALPL):c.130C>T (p.Gln44Ter) rs1057516293
NM_000478.6(ALPL):c.1310-10del rs2148194374
NM_000478.6(ALPL):c.1310-11C>T rs751498778
NM_000478.6(ALPL):c.1310-13C>T
NM_000478.6(ALPL):c.1310-14C>A
NM_000478.6(ALPL):c.1310-15T>G
NM_000478.6(ALPL):c.1310-17T>C
NM_000478.6(ALPL):c.1310-19T>C
NM_000478.6(ALPL):c.1310-20G>C
NM_000478.6(ALPL):c.1310-2A>C
NM_000478.6(ALPL):c.1310-5C>T rs755472353
NM_000478.6(ALPL):c.1314C>T (p.His438=)
NM_000478.6(ALPL):c.1315AAC[1] (p.Asn440del)
NM_000478.6(ALPL):c.1317C>T (p.Asn439=) rs1402003694
NM_000478.6(ALPL):c.1318_1323del (p.Asn440_Tyr441del)
NM_000478.6(ALPL):c.1320C>T (p.Asn440=)
NM_000478.6(ALPL):c.1322A>C (p.Tyr441Ser)
NM_000478.6(ALPL):c.1323C>T (p.Tyr441=) rs1570309397
NM_000478.6(ALPL):c.1328C>T (p.Ala443Val) rs768053120
NM_000478.6(ALPL):c.1329G>C (p.Ala443=) rs756394364
NM_000478.6(ALPL):c.1329G>T (p.Ala443=) rs756394364
NM_000478.6(ALPL):c.1333T>C (p.Ser445Pro) rs1553415041
NM_000478.6(ALPL):c.1335T>C (p.Ser445=)
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.1344C>T (p.Pro448=)
NM_000478.6(ALPL):c.1356G>T (p.Glu452Asp)
NM_000478.6(ALPL):c.1360C>T (p.His454Tyr) rs2148194615
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.1366G>T (p.Gly456Trp)
NM_000478.6(ALPL):c.1367G>A (p.Gly456Glu) rs1644753808
NM_000478.6(ALPL):c.1367G>C (p.Gly456Ala) rs1644753808
NM_000478.6(ALPL):c.1373_1374delinsGA (p.Asp458Gly) rs1558558773
NM_000478.6(ALPL):c.1375G>T (p.Val459Leu) rs1054159992
NM_000478.6(ALPL):c.137T>C (p.Leu46Pro)
NM_000478.6(ALPL):c.1389C>T (p.Ser463=)
NM_000478.6(ALPL):c.1392G>A (p.Lys464=) rs2148194834
NM_000478.6(ALPL):c.1395C>T (p.Gly465=) rs2148194842
NM_000478.6(ALPL):c.1396C>G (p.Pro466Ala)
NM_000478.6(ALPL):c.1397C>G (p.Pro466Arg)
NM_000478.6(ALPL):c.1398C>A (p.Pro466=)
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.1407C>G (p.His469Gln)
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser) rs1644755212
NM_000478.6(ALPL):c.1419C>T (p.Gly473=) rs373417343
NM_000478.6(ALPL):c.1420G>A (p.Val474Ile)
NM_000478.6(ALPL):c.1422C>T (p.Val474=) rs12027316
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.1427A>C (p.Glu476Ala) rs2148195004
NM_000478.6(ALPL):c.1427A>G (p.Glu476Gly) rs2148195004
NM_000478.6(ALPL):c.1428G>A (p.Glu476=) rs2148195017
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.143C>T (p.Thr48Ile)
NM_000478.6(ALPL):c.1440C>T (p.Val480=)
NM_000478.6(ALPL):c.1444C>T (p.His482Tyr)
NM_000478.6(ALPL):c.1447G>A (p.Val483Met)
NM_000478.6(ALPL):c.1458T>C (p.Tyr486=)
NM_000478.6(ALPL):c.145A>G (p.Asn49Asp)
NM_000478.6(ALPL):c.1460C>T (p.Ala487Val) rs1229517379
NM_000478.6(ALPL):c.1461A>C (p.Ala487=) rs2148195162
NM_000478.6(ALPL):c.1465T>C (p.Cys489Arg)
NM_000478.6(ALPL):c.1468A>T (p.Ile490Phe)
NM_000478.6(ALPL):c.146A>G (p.Asn49Ser)
NM_000478.6(ALPL):c.1471G>C (p.Gly491Arg)
NM_000478.6(ALPL):c.1474del (p.Ala492fs) rs1558558976
NM_000478.6(ALPL):c.1475C>T (p.Ala492Val)
NM_000478.6(ALPL):c.1483G>A (p.Gly495Ser) rs761079751
NM_000478.6(ALPL):c.1483G>C (p.Gly495Arg) rs761079751
NM_000478.6(ALPL):c.148G>A (p.Val50Met)
NM_000478.6(ALPL):c.1497T>C (p.Pro499=)
NM_000478.6(ALPL):c.1498G>A (p.Ala500Thr) rs762216748
NM_000478.6(ALPL):c.1503C>T (p.Ser501=) rs1644757548
NM_000478.6(ALPL):c.1505C>A (p.Ser502Ter) rs550358395
NM_000478.6(ALPL):c.1507G>A (p.Ala503Thr) rs1644757745
NM_000478.6(ALPL):c.1509del (p.Gly504fs)
NM_000478.6(ALPL):c.150G>A (p.Val50=) rs2148151152
NM_000478.6(ALPL):c.1512C>A (p.Gly504=)
NM_000478.6(ALPL):c.1527C>A (p.Gly509=)
NM_000478.6(ALPL):c.152C>T (p.Ala51Val)
NM_000478.6(ALPL):c.1530C>T (p.Pro510=)
NM_000478.6(ALPL):c.1533G>A (p.Leu511=)
NM_000478.6(ALPL):c.1536G>T (p.Leu512=) rs2148195486
NM_000478.6(ALPL):c.1542G>A (p.Ala514=) rs3200256
NM_000478.6(ALPL):c.1547C>T (p.Ala516Val)
NM_000478.6(ALPL):c.1548C>T (p.Ala516=) rs922167498
NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs) rs772638759
NM_000478.6(ALPL):c.1554C>T (p.Tyr518=)
NM_000478.6(ALPL):c.1556C>T (p.Pro519Leu)
NM_000478.6(ALPL):c.1557C>A (p.Pro519=) rs376020180
NM_000478.6(ALPL):c.1557C>G (p.Pro519=) rs376020180
NM_000478.6(ALPL):c.1557C>T (p.Pro519=) rs376020180
NM_000478.6(ALPL):c.1563C>G (p.Ser521Arg)
NM_000478.6(ALPL):c.1563C>T (p.Ser521=) rs370978556
NM_000478.6(ALPL):c.1564G>A (p.Val522Ile)
NM_000478.6(ALPL):c.1567C>T (p.Leu523=) rs1455969376
NM_000478.6(ALPL):c.1569G>C (p.Leu523=)
NM_000478.6(ALPL):c.1574G>A (p.Ter525=) rs1644760126
NM_000478.6(ALPL):c.158del (p.Asn53fs)
NM_000478.6(ALPL):c.162C>T (p.Val54=)
NM_000478.6(ALPL):c.162CAT[1] (p.Ile55del) rs766831104
NM_000478.6(ALPL):c.163A>G (p.Ile55Val)
NM_000478.6(ALPL):c.163A>T (p.Ile55Phe)
NM_000478.6(ALPL):c.166A>G (p.Met56Val)
NM_000478.6(ALPL):c.167T>C (p.Met56Thr)
NM_000478.6(ALPL):c.174G>A (p.Leu58=) rs757176737
NM_000478.6(ALPL):c.176G>A (p.Gly59Glu)
NM_000478.6(ALPL):c.178G>C (p.Asp60His) rs1644472852
NM_000478.6(ALPL):c.181+15C>A
NM_000478.6(ALPL):c.181+15C>T
NM_000478.6(ALPL):c.181+18G>A
NM_000478.6(ALPL):c.181+1G>A
NM_000478.6(ALPL):c.181+3_181+14del
NM_000478.6(ALPL):c.181+52C>A rs1767430
NM_000478.6(ALPL):c.181+7C>T
NM_000478.6(ALPL):c.181+9C>T rs2148151304
NM_000478.6(ALPL):c.181G>A (p.Gly61Arg) rs2148151280
NM_000478.6(ALPL):c.182-144T>C rs114076331
NM_000478.6(ALPL):c.182-14A>G
NM_000478.6(ALPL):c.182-18C>T
NM_000478.6(ALPL):c.182-19C>G
NM_000478.6(ALPL):c.182-2A>G rs2148152217
NM_000478.6(ALPL):c.182-2_200dup
NM_000478.6(ALPL):c.182-4G>T rs1268795948
NM_000478.6(ALPL):c.182-8C>T
NM_000478.6(ALPL):c.182G>A (p.Gly61Glu)
NM_000478.6(ALPL):c.184A>T (p.Met62Leu)
NM_000478.6(ALPL):c.187G>T (p.Gly63Cys)
NM_000478.6(ALPL):c.188G>T (p.Gly63Val) rs1490668038
NM_000478.6(ALPL):c.197C>G (p.Thr66Arg)
NM_000478.6(ALPL):c.197C>T (p.Thr66Ile)
NM_000478.6(ALPL):c.19G>C (p.Val7Leu)
NM_000478.6(ALPL):c.1A>G (p.Met1Val) rs2148135255
NM_000478.6(ALPL):c.201G>A (p.Val67=)
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>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.214A>G (p.Ile72Val) rs2148152364
NM_000478.6(ALPL):c.217_219del (p.Leu73del) rs2148152384
NM_000478.6(ALPL):c.219C>T (p.Leu73=) rs1364859151
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.225T>G (p.Gly75=)
NM_000478.6(ALPL):c.225_228dup (p.Leu77fs) rs1553411920
NM_000478.6(ALPL):c.22C>G (p.Leu8Val)
NM_000478.6(ALPL):c.232C>T (p.His78Tyr)
NM_000478.6(ALPL):c.245G>A (p.Gly82Glu) rs2148152529
NM_000478.6(ALPL):c.247G>T (p.Glu83Ter) rs2148152544
NM_000478.6(ALPL):c.24G>A (p.Leu8=)
NM_000478.6(ALPL):c.258G>A (p.Arg86=)
NM_000478.6(ALPL):c.262G>A (p.Glu88Lys) rs1045735640
NM_000478.6(ALPL):c.267G>C (p.Met89Ile) rs771240396
NM_000478.6(ALPL):c.270C>G (p.Asp90Glu) rs779180929
NM_000478.6(ALPL):c.275T>C (p.Phe92Ser)
NM_000478.6(ALPL):c.278C>T (p.Pro93Leu)
NM_000478.6(ALPL):c.279C>T (p.Pro93=) rs1445100679
NM_000478.6(ALPL):c.279del (p.Phe94fs)
NM_000478.6(ALPL):c.27C>T (p.Ala9=)
NM_000478.6(ALPL):c.281T>C (p.Phe94Ser)
NM_000478.6(ALPL):c.284T>A (p.Val95Glu) rs2148152665
NM_000478.6(ALPL):c.288C>T (p.Ala96=) rs1328994902
NM_000478.6(ALPL):c.289C>A (p.Leu97Ile)
NM_000478.6(ALPL):c.295A>G (p.Lys99Glu)
NM_000478.6(ALPL):c.297+15C>T
NM_000478.6(ALPL):c.297+16A>G
NM_000478.6(ALPL):c.297+1G>T
NM_000478.6(ALPL):c.297+5G>A
NM_000478.6(ALPL):c.297+6C>T
NM_000478.6(ALPL):c.297+7C>G
NM_000478.6(ALPL):c.298-10C>T rs2148158029
NM_000478.6(ALPL):c.298-15C>T
NM_000478.6(ALPL):c.298-18C>T
NM_000478.6(ALPL):c.298-20C>T
NM_000478.6(ALPL):c.298-42C>A rs112855382
NM_000478.6(ALPL):c.298-4G>A
NM_000478.6(ALPL):c.298-7C>A
NM_000478.6(ALPL):c.299_300insT (p.Tyr101fs)
NM_000478.6(ALPL):c.2T>C (p.Met1Thr)
NM_000478.6(ALPL):c.300G>C (p.Thr100=) rs191778470
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>C (p.Asn102Thr)
NM_000478.6(ALPL):c.305A>T (p.Asn102Ile)
NM_000478.6(ALPL):c.312T>C (p.Asn104=) rs2148158153
NM_000478.6(ALPL):c.314C>T (p.Ala105Val)
NM_000478.6(ALPL):c.315C>G (p.Ala105=)
NM_000478.6(ALPL):c.315C>T (p.Ala105=) rs2148158175
NM_000478.6(ALPL):c.318G>A (p.Gln106=)
NM_000478.6(ALPL):c.318G>C (p.Gln106His) rs1553412268
NM_000478.6(ALPL):c.321C>A (p.Val107=)
NM_000478.6(ALPL):c.321C>G (p.Val107=) rs2148158206
NM_000478.6(ALPL):c.324T>C (p.Pro108=)
NM_000478.6(ALPL):c.324T>G (p.Pro108=)
NM_000478.6(ALPL):c.327C>T (p.Asp109=)
NM_000478.6(ALPL):c.327_329dup (p.Ser110_Ala111insSer)
NM_000478.6(ALPL):c.329_330inv (p.Ser110Asn)
NM_000478.6(ALPL):c.32G>A (p.Gly11Asp)
NM_000478.6(ALPL):c.332C>T (p.Ala111Val)
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.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.350_355del (p.Tyr117_Leu118del)
NM_000478.6(ALPL):c.352C>T (p.Leu118=) rs1284058976
NM_000478.6(ALPL):c.354G>A (p.Leu118=)
NM_000478.6(ALPL):c.356G>C (p.Cys119Ser)
NM_000478.6(ALPL):c.357T>C (p.Cys119=)
NM_000478.6(ALPL):c.35C>T (p.Thr12Ile) rs1570252164
NM_000478.6(ALPL):c.360G>C (p.Gly120=)
NM_000478.6(ALPL):c.360_361del (p.Val121fs) rs751994699
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.369C>A (p.Ala123=) rs201342272
NM_000478.6(ALPL):c.370A>G (p.Asn124Asp)
NM_000478.6(ALPL):c.375G>A (p.Glu125=) rs752868525
NM_000478.6(ALPL):c.379A>G (p.Thr127Ala)
NM_000478.6(ALPL):c.380C>A (p.Thr127Asn)
NM_000478.6(ALPL):c.382G>A (p.Val128Met)
NM_000478.6(ALPL):c.384G>C (p.Val128=)
NM_000478.6(ALPL):c.384G>T (p.Val128=) rs764097939
NM_000478.6(ALPL):c.387G>T (p.Gly129=)
NM_000478.6(ALPL):c.388G>A (p.Val130Ile)
NM_000478.6(ALPL):c.388del (p.Gly129_Val130insTer)
NM_000478.6(ALPL):c.388dup (p.Val130fs) rs1644509908
NM_000478.6(ALPL):c.390A>C (p.Val130=)
NM_000478.6(ALPL):c.392del (p.Ser131fs) rs1553412310
NM_000478.6(ALPL):c.393C>A (p.Ser131Arg)
NM_000478.6(ALPL):c.393C>T (p.Ser131=) rs2148158625
NM_000478.6(ALPL):c.394G>A (p.Ala132Thr) rs757771793
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.3G>C (p.Met1Ile)
NM_000478.6(ALPL):c.400_401delinsCA (p.Thr134His) rs786204530
NM_000478.6(ALPL):c.401C>G (p.Thr134Ser)
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.411C>G (p.Ser137=) rs2148158747
NM_000478.6(ALPL):c.412C>T (p.Arg138Trp)
NM_000478.6(ALPL):c.412del (p.Arg138fs) rs1312528958
NM_000478.6(ALPL):c.415T>C (p.Cys139Arg) rs1644511163
NM_000478.6(ALPL):c.416G>A (p.Cys139Tyr)
NM_000478.6(ALPL):c.422C>A (p.Thr141Asn) rs916300043
NM_000478.6(ALPL):c.425C>T (p.Thr142Ile)
NM_000478.6(ALPL):c.427del (p.Gln143fs) rs760134827
NM_000478.6(ALPL):c.431G>C (p.Gly144Ala)
NM_000478.6(ALPL):c.432G>A (p.Gly144=)
NM_000478.6(ALPL):c.435C>T (p.Asn145=) rs930415465
NM_000478.6(ALPL):c.436G>C (p.Glu146Gln)
NM_000478.6(ALPL):c.437A>G (p.Glu146Gly)
NM_000478.6(ALPL):c.439G>A (p.Val147Ile)
NM_000478.6(ALPL):c.443C>T (p.Thr148Ile)
NM_000478.6(ALPL):c.444C>T (p.Thr148=) rs1419358746
NM_000478.6(ALPL):c.453G>A (p.Leu151=) rs377693871
NM_000478.6(ALPL):c.457T>C (p.Trp153Arg) rs1644512630
NM_000478.6(ALPL):c.45T>C (p.Thr15=)
NM_000478.6(ALPL):c.462C>G (p.Ala154=)
NM_000478.6(ALPL):c.463A>T (p.Lys155Ter)
NM_000478.6(ALPL):c.466G>A (p.Asp156Asn)
NM_000478.6(ALPL):c.469G>A (p.Ala157Thr) rs750842585
NM_000478.6(ALPL):c.46_49del (p.Asn16fs) rs1057516230
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000478.6(ALPL):c.472+14G>A
NM_000478.6(ALPL):c.472+18_472+27del
NM_000478.6(ALPL):c.472+20G>A
NM_000478.6(ALPL):c.472+21_472+22del
NM_000478.6(ALPL):c.472+4A>C
NM_000478.6(ALPL):c.472+5G>C rs1558549099
NM_000478.6(ALPL):c.472+8G>A rs61778390
NM_000478.6(ALPL):c.473-15C>A
NM_000478.6(ALPL):c.473-16C>A
NM_000478.6(ALPL):c.473-16C>T
NM_000478.6(ALPL):c.473-1G>A
NM_000478.6(ALPL):c.473-20C>T
NM_000478.6(ALPL):c.473-266_473-264del rs57788099
NM_000478.6(ALPL):c.473-4C>T
NM_000478.6(ALPL):c.473-6C>T
NM_000478.6(ALPL):c.473-9G>A rs1170587063
NM_000478.6(ALPL):c.480del (p.Val161fs) rs1644527306
NM_000478.6(ALPL):c.481G>A (p.Val161Met)
NM_000478.6(ALPL):c.485G>A (p.Gly162Asp)
NM_000478.6(ALPL):c.485G>T (p.Gly162Val) rs121918012
NM_000478.6(ALPL):c.486C>T (p.Gly162=)
NM_000478.6(ALPL):c.495C>A (p.Thr165=) rs2148161308
NM_000478.6(ALPL):c.495C>T (p.Thr165=) rs2148161308
NM_000478.6(ALPL):c.498C>A (p.Thr166=)
NM_000478.6(ALPL):c.498C>G (p.Thr166=) rs1644527638
NM_000478.6(ALPL):c.499A>G (p.Thr167Ala) rs1553412481
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.512A>G (p.His171Arg)
NM_000478.6(ALPL):c.513T>C (p.His171=)
NM_000478.6(ALPL):c.515C>A (p.Ala172Asp) rs1570276506
NM_000478.6(ALPL):c.515C>T (p.Ala172Val) rs1570276506
NM_000478.6(ALPL):c.516C>A (p.Ala172=) rs2148161415
NM_000478.6(ALPL):c.517A>G (p.Thr173Ala)
NM_000478.6(ALPL):c.518C>T (p.Thr173Ile)
NM_000478.6(ALPL):c.51C>G (p.Ser17=)
NM_000478.6(ALPL):c.520C>T (p.Pro174Ser)
NM_000478.6(ALPL):c.522C>T (p.Pro174=)
NM_000478.6(ALPL):c.522del (p.Ser175fs) rs750174638
NM_000478.6(ALPL):c.525C>T (p.Ser175=) rs766504809
NM_000478.6(ALPL):c.529G>T (p.Ala177Ser)
NM_000478.6(ALPL):c.534C>A (p.Tyr178Ter) rs201250289
NM_000478.6(ALPL):c.534C>G (p.Tyr178Ter)
NM_000478.6(ALPL):c.534C>T (p.Tyr178=) rs201250289
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.543G>A (p.Ser181=) rs963709967
NM_000478.6(ALPL):c.547G>A (p.Asp183Asn) rs1644529037
NM_000478.6(ALPL):c.549C>G (p.Asp183Glu)
NM_000478.6(ALPL):c.550C>A (p.Arg184=) rs763159520
NM_000478.6(ALPL):c.550C>G (p.Arg184Gly)
NM_000478.6(ALPL):c.551G>A (p.Arg184Gln) rs1558549798
NM_000478.6(ALPL):c.552G>T (p.Arg184=)
NM_000478.6(ALPL):c.553G>C (p.Asp185His)
NM_000478.6(ALPL):c.555C>T (p.Asp185=) rs1644529304
NM_000478.6(ALPL):c.556T>C (p.Trp186Arg)
NM_000478.6(ALPL):c.558G>A (p.Trp186Ter) rs2148161624
NM_000478.6(ALPL):c.561C>T (p.Tyr187=) rs771542770
NM_000478.6(ALPL):c.565G>A (p.Asp189Asn)
NM_000478.6(ALPL):c.565_575delinsAG (p.Asp189_Met192delinsArg)
NM_000478.6(ALPL):c.567C>A (p.Asp189Glu)
NM_000478.6(ALPL):c.568_570del (p.Asn190del) rs1644529451
NM_000478.6(ALPL):c.570C>G (p.Asn190Lys) rs760153868
NM_000478.6(ALPL):c.570C>T (p.Asn190=) rs760153868
NM_000478.6(ALPL):c.571G>C (p.Glu191Gln)
NM_000478.6(ALPL):c.572A>G (p.Glu191Gly) rs1644529717
NM_000478.6(ALPL):c.573G>A (p.Glu191=)
NM_000478.6(ALPL):c.581C>G (p.Pro194Arg)
NM_000478.6(ALPL):c.581_582del (p.Pro194fs)
NM_000478.6(ALPL):c.586G>A (p.Ala196Thr) rs1057522942
NM_000478.6(ALPL):c.591G>A (p.Leu197=)
NM_000478.6(ALPL):c.597G>A (p.Gln199=) rs2148161776
NM_000478.6(ALPL):c.598G>A (p.Gly200Ser) rs1570276921
NM_000478.6(ALPL):c.598G>T (p.Gly200Cys)
NM_000478.6(ALPL):c.599G>A (p.Gly200Asp)
NM_000478.6(ALPL):c.602G>A (p.Cys201Tyr)
NM_000478.6(ALPL):c.604A>G (p.Lys202Glu)
NM_000478.6(ALPL):c.608_609delinsTT (p.Asp203Val)
NM_000478.6(ALPL):c.61+10G>A
NM_000478.6(ALPL):c.61+10G>C
NM_000478.6(ALPL):c.61+11G>A
NM_000478.6(ALPL):c.61+16C>A
NM_000478.6(ALPL):c.61+184AT[11] rs61491376
NM_000478.6(ALPL):c.61+184AT[8] rs61491376
NM_000478.6(ALPL):c.61+184AT[9] rs61491376
NM_000478.6(ALPL):c.61+19G>A
NM_000478.6(ALPL):c.61+20T>A
NM_000478.6(ALPL):c.61+3A>G rs2148135419
NM_000478.6(ALPL):c.61+7T>C
NM_000478.6(ALPL):c.613G>A (p.Ala205Thr)
NM_000478.6(ALPL):c.617A>C (p.Tyr206Ser)
NM_000478.6(ALPL):c.62-10C>G rs751260907
NM_000478.6(ALPL):c.62-10C>T rs751260907
NM_000478.6(ALPL):c.62-11T>A rs765984767
NM_000478.6(ALPL):c.62-11T>C rs765984767
NM_000478.6(ALPL):c.62-14C>G
NM_000478.6(ALPL):c.62-14C>T
NM_000478.6(ALPL):c.62-16CT[2]
NM_000478.6(ALPL):c.62-16CT[3]
NM_000478.6(ALPL):c.62-18G>A rs1644468818
NM_000478.6(ALPL):c.62-18G>T
NM_000478.6(ALPL):c.62-1G>A
NM_000478.6(ALPL):c.62-20C>T
NM_000478.6(ALPL):c.62-6G>A rs759206704
NM_000478.6(ALPL):c.62-6_62-5del
NM_000478.6(ALPL):c.62-8G>A rs1253638377
NM_000478.6(ALPL):c.62-9T>G
NM_000478.6(ALPL):c.620A>C (p.Gln207Pro) rs121918004
NM_000478.6(ALPL):c.624C>A (p.Leu208=) rs2148161917
NM_000478.6(ALPL):c.626T>C (p.Met209Thr)
NM_000478.6(ALPL):c.643A>G (p.Ile215Val)
NM_000478.6(ALPL):c.647A>G (p.Asp216Gly)
NM_000478.6(ALPL):c.648+10C>A
NM_000478.6(ALPL):c.648+11G>A
NM_000478.6(ALPL):c.648+14G>A
NM_000478.6(ALPL):c.648+14G>T
NM_000478.6(ALPL):c.648+15G>A
NM_000478.6(ALPL):c.648+15del
NM_000478.6(ALPL):c.648+19C>T
NM_000478.6(ALPL):c.648+1_648+8dup
NM_000478.6(ALPL):c.648+20C>G
NM_000478.6(ALPL):c.648+20C>T rs368955682
NM_000478.6(ALPL):c.648+5G>C
NM_000478.6(ALPL):c.648+8C>G
NM_000478.6(ALPL):c.648+8C>T
NM_000478.6(ALPL):c.649-10T>A
NM_000478.6(ALPL):c.649-14C>T
NM_000478.6(ALPL):c.649-1G>A rs2148171286
NM_000478.6(ALPL):c.649-3T>C
NM_000478.6(ALPL):c.649-4T>G
NM_000478.6(ALPL):c.649-4_649-3del
NM_000478.6(ALPL):c.649-8T>C
NM_000478.6(ALPL):c.649-8del rs2148171280
NM_000478.6(ALPL):c.649_650insCTA (p.Val217delinsAlaMet)
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys) rs1553413155
NM_000478.6(ALPL):c.653T>C (p.Ile218Thr)
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>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.661G>T (p.Gly221Cys) rs769020799
NM_000478.6(ALPL):c.662G>T (p.Gly221Val)
NM_000478.6(ALPL):c.662del (p.Gly221fs) rs769948289
NM_000478.6(ALPL):c.662dup (p.Gly222fs) rs769948289
NM_000478.6(ALPL):c.666C>T (p.Gly222=)
NM_000478.6(ALPL):c.669G>A (p.Arg223=)
NM_000478.6(ALPL):c.670A>G (p.Lys224Glu) rs1226800998
NM_000478.6(ALPL):c.671A>T (p.Lys224Ile)
NM_000478.6(ALPL):c.67G>A (p.Glu23Lys)
NM_000478.6(ALPL):c.681C>A (p.Tyr227Ter)
NM_000478.6(ALPL):c.684C>G (p.Pro228=)
NM_000478.6(ALPL):c.696T>C (p.Thr232=)
NM_000478.6(ALPL):c.699T>A (p.Asp233Glu)
NM_000478.6(ALPL):c.699T>C (p.Asp233=)
NM_000478.6(ALPL):c.701T>G (p.Val234Gly) rs779322468
NM_000478.6(ALPL):c.702G>A (p.Val234=)
NM_000478.6(ALPL):c.702G>T (p.Val234=)
NM_000478.6(ALPL):c.707A>G (p.Tyr236Cys)
NM_000478.6(ALPL):c.708T>C (p.Tyr236=) rs2148171655
NM_000478.6(ALPL):c.711G>C (p.Glu237Asp)
NM_000478.6(ALPL):c.715G>T (p.Asp239Tyr) rs1416572796
NM_000478.6(ALPL):c.715del (p.Asp239fs) rs1644593994
NM_000478.6(ALPL):c.716A>G (p.Asp239Gly)
NM_000478.6(ALPL):c.717C>A (p.Asp239Glu)
NM_000478.6(ALPL):c.730G>A (p.Gly244Ser)
NM_000478.6(ALPL):c.732C>T (p.Gly244=) rs2148171730
NM_000478.6(ALPL):c.735G>A (p.Thr245=) rs776965688
NM_000478.6(ALPL):c.738G>T (p.Arg246Ser) rs1223142821
NM_000478.6(ALPL):c.741G>A (p.Leu247=) rs2148171766
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.747C>T (p.Gly249=) rs2148171807
NM_000478.6(ALPL):c.748C>T (p.Leu250=) rs2148171815
NM_000478.6(ALPL):c.750G>T (p.Leu250=) rs2148171825
NM_000478.6(ALPL):c.756_757insCC (p.Val253fs)
NM_000478.6(ALPL):c.757G>C (p.Val253Leu)
NM_000478.6(ALPL):c.765C>T (p.Thr255=) rs2148171896
NM_000478.6(ALPL):c.771G>A (p.Lys257=)
NM_000478.6(ALPL):c.773G>A (p.Ser258Asn)
NM_000478.6(ALPL):c.774C>T (p.Ser258=)
NM_000478.6(ALPL):c.777C>T (p.Phe259=) rs1644595469
NM_000478.6(ALPL):c.781C>A (p.Pro261Thr)
NM_000478.6(ALPL):c.781C>T (p.Pro261Ser)
NM_000478.6(ALPL):c.782C>A (p.Pro261Gln)
NM_000478.6(ALPL):c.784A>T (p.Arg262Ter)
NM_000478.6(ALPL):c.786A>G (p.Arg262=)
NM_000478.6(ALPL):c.789C>T (p.Tyr263=)
NM_000478.6(ALPL):c.78C>T (p.Pro26=)
NM_000478.6(ALPL):c.792+10del rs2148172047
NM_000478.6(ALPL):c.792+13G>C
NM_000478.6(ALPL):c.792+19A>G
NM_000478.6(ALPL):c.792+1G>A
NM_000478.6(ALPL):c.792+1G>C
NM_000478.6(ALPL):c.792+20T>C rs2148172087
NM_000478.6(ALPL):c.792+321T>C rs1256330
NM_000478.6(ALPL):c.792+4G>T
NM_000478.6(ALPL):c.792+7T>C
NM_000478.6(ALPL):c.792+8G>A rs1012938813
NM_000478.6(ALPL):c.792+8G>C rs1012938813
NM_000478.6(ALPL):c.792G>T (p.Lys264Asn)
NM_000478.6(ALPL):c.793-10T>A
NM_000478.6(ALPL):c.793-10T>C rs1114167436
NM_000478.6(ALPL):c.793-15A>G
NM_000478.6(ALPL):c.793-16C>T
NM_000478.6(ALPL):c.793-16_793-15del
NM_000478.6(ALPL):c.793-17A>G
NM_000478.6(ALPL):c.793-4C>T
NM_000478.6(ALPL):c.793del (p.His265fs)
NM_000478.6(ALPL):c.795C>T (p.His265=)
NM_000478.6(ALPL):c.803T>G (p.Phe268Cys)
NM_000478.6(ALPL):c.810G>A (p.Trp270Ter) rs1558553380
NM_000478.6(ALPL):c.813C>T (p.Asn271=)
NM_000478.6(ALPL):c.814del (p.Arg272fs)
NM_000478.6(ALPL):c.815G>T (p.Arg272Leu) rs781272386
NM_000478.6(ALPL):c.818C>G (p.Thr273Arg)
NM_000478.6(ALPL):c.822A>T (p.Glu274Asp)
NM_000478.6(ALPL):c.822_823del (p.Glu274fs)
NM_000478.6(ALPL):c.823C>T (p.Leu275Phe)
NM_000478.6(ALPL):c.824T>C (p.Leu275Pro) rs1237252052
NM_000478.6(ALPL):c.826C>T (p.Leu276=)
NM_000478.6(ALPL):c.827T>C (p.Leu276Pro) rs1644628318
NM_000478.6(ALPL):c.831C>A (p.Thr277=) rs1458491740
NM_000478.6(ALPL):c.831C>G (p.Thr277=) rs1458491740
NM_000478.6(ALPL):c.831C>T (p.Thr277=) rs1458491740
NM_000478.6(ALPL):c.833T>C (p.Leu278Pro) rs2148177029
NM_000478.6(ALPL):c.834T>G (p.Leu278=)
NM_000478.6(ALPL):c.837C>T (p.Asp279=)
NM_000478.6(ALPL):c.841del (p.His281fs) rs1057516526
NM_000478.6(ALPL):c.841dup (p.His281fs)
NM_000478.6(ALPL):c.846del (p.Asn282fs)
NM_000478.6(ALPL):c.850G>A (p.Asp284Asn)
NM_000478.6(ALPL):c.852C>T (p.Asp284=) rs1644628883
NM_000478.6(ALPL):c.854A>G (p.Tyr285Cys)
NM_000478.6(ALPL):c.855C>G (p.Tyr285Ter)
NM_000478.6(ALPL):c.862+10G>C rs769906537
NM_000478.6(ALPL):c.862+11G>A
NM_000478.6(ALPL):c.862+11G>T rs1447217092
NM_000478.6(ALPL):c.862+12G>A
NM_000478.6(ALPL):c.862+13G>T
NM_000478.6(ALPL):c.862+17G>C
NM_000478.6(ALPL):c.862+2T>G
NM_000478.6(ALPL):c.862+4A>G rs2148177101
NM_000478.6(ALPL):c.862+5GTGGAGGGG[3]
NM_000478.6(ALPL):c.862+6T>C rs956701286
NM_000478.6(ALPL):c.862+8G>A
NM_000478.6(ALPL):c.862+8G>C rs748036741
NM_000478.6(ALPL):c.863-11G>A
NM_000478.6(ALPL):c.863-11G>T
NM_000478.6(ALPL):c.863-12C>T
NM_000478.6(ALPL):c.863-13_863-12insGGTCCCC
NM_000478.6(ALPL):c.863-147_884del
NM_000478.6(ALPL):c.863-17C>T
NM_000478.6(ALPL):c.863-200_863-188del rs199875083
NM_000478.6(ALPL):c.863-200_863-195del rs1478727600
NM_000478.6(ALPL):c.863-201_863-194del rs368062039
NM_000478.6(ALPL):c.863-201del rs111432911
NM_000478.6(ALPL):c.863-216_863-214del rs563604856
NM_000478.6(ALPL):c.863-217dup rs35155164
NM_000478.6(ALPL):c.863-22_863-12del
NM_000478.6(ALPL):c.863-3C>T
NM_000478.6(ALPL):c.863-5C>T rs1424809484
NM_000478.6(ALPL):c.863-5_863-3del
NM_000478.6(ALPL):c.863-6C>T
NM_000478.6(ALPL):c.863G>A (p.Gly288Asp) rs2148184225
NM_000478.6(ALPL):c.867C>T (p.Leu289=)
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.876_882delinsT (p.Gly293_Asp294del) rs1553414078
NM_000478.6(ALPL):c.879G>A (p.Gly293=)
NM_000478.6(ALPL):c.879G>T (p.Gly293=)
NM_000478.6(ALPL):c.87G>A (p.Trp29Ter) rs1553411779
NM_000478.6(ALPL):c.880G>A (p.Asp294Asn)
NM_000478.6(ALPL):c.880del (p.Asp294fs)
NM_000478.6(ALPL):c.881A>G (p.Asp294Gly)
NM_000478.6(ALPL):c.883A>G (p.Met295Val)
NM_000478.6(ALPL):c.886C>T (p.Gln296Ter) rs2148184336
NM_000478.6(ALPL):c.887A>C (p.Gln296Pro)
NM_000478.6(ALPL):c.88C>G (p.Arg30Gly) rs1057516334
NM_000478.6(ALPL):c.891C>A (p.Tyr297Ter) rs755529290
NM_000478.6(ALPL):c.891C>G (p.Tyr297Ter)
NM_000478.6(ALPL):c.891C>T (p.Tyr297=) rs755529290
NM_000478.6(ALPL):c.894G>A (p.Glu298=)
NM_000478.6(ALPL):c.894G>T (p.Glu298Asp)
NM_000478.6(ALPL):c.896T>C (p.Leu299Pro) rs2148184404
NM_000478.6(ALPL):c.902G>A (p.Arg301Lys) rs1644684840
NM_000478.6(ALPL):c.903G>T (p.Arg301Ser)
NM_000478.6(ALPL):c.903del (p.Asn302fs) rs768160006
NM_000478.6(ALPL):c.906C>A (p.Asn302Lys) rs560308330
NM_000478.6(ALPL):c.909C>T (p.Asn303=) rs1220405473
NM_000478.6(ALPL):c.916G>T (p.Asp306Tyr)
NM_000478.6(ALPL):c.919C>T (p.Pro307Ser)
NM_000478.6(ALPL):c.921G>A (p.Pro307=) rs1553414111
NM_000478.6(ALPL):c.922T>C (p.Ser308Pro)
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.933G>A (p.Glu311=)
NM_000478.6(ALPL):c.935TGG[5] (p.Val315_Ala316insVal)
NM_000478.6(ALPL):c.93C>T (p.Asp31=) rs2148150916
NM_000478.6(ALPL):c.940G>T (p.Val314Leu)
NM_000478.6(ALPL):c.942G>A (p.Val314=) rs2148184619
NM_000478.6(ALPL):c.943G>T (p.Val315Leu)
NM_000478.6(ALPL):c.945_947dup (p.Ala316_Ile317insAla)
NM_000478.6(ALPL):c.949A>T (p.Ile317Phe) rs1644686464
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter) rs1209147330
NM_000478.6(ALPL):c.951C>T (p.Ile317=)
NM_000478.6(ALPL):c.952C>A (p.Gln318Lys) rs752356218
NM_000478.6(ALPL):c.954G>A (p.Gln318=)
NM_000478.6(ALPL):c.957C>A (p.Ile319=) rs1310593535
NM_000478.6(ALPL):c.957C>G (p.Ile319Met) rs1310593535
NM_000478.6(ALPL):c.963G>A (p.Arg321=) rs757111696
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.969C>T (p.Asn323=) rs2148184754
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.979_980delinsGG (p.Phe327Gly)
NM_000478.6(ALPL):c.980T>G (p.Phe327Cys) rs779832611
NM_000478.6(ALPL):c.981C>G (p.Phe327Leu)
NM_000478.6(ALPL):c.984C>G (p.Phe328Leu)
NM_000478.6(ALPL):c.984C>T (p.Phe328=) rs1177827603
NM_000478.6(ALPL):c.98C>G (p.Ala33Gly)
NM_000478.6(ALPL):c.997+10C>G rs370529396
NM_000478.6(ALPL):c.997+12G>A
NM_000478.6(ALPL):c.997+13G>T
NM_000478.6(ALPL):c.997+16C>G
NM_000478.6(ALPL):c.997+20T>C rs2148185013
NM_000478.6(ALPL):c.997+2T>G rs1057517391
NM_000478.6(ALPL):c.997+3A>C rs1553414147
NM_000478.6(ALPL):c.997+8C>T rs1405502053
NM_000478.6(ALPL):c.997+9C>T rs2148184944
NM_000478.6(ALPL):c.997G>T (p.Gly333Ter) rs2148184880
NM_000478.6(ALPL):c.998-10G>C
NM_000478.6(ALPL):c.998-10del
NM_000478.6(ALPL):c.998-2A>G rs1057516622
NM_000478.6(ALPL):c.998-5C>T rs1341639488
NM_000478.6(ALPL):c.998-6C>T rs2148189543
NM_000478.6(ALPL):c.999A>G (p.Gly333=)
NM_000478.6(ALPL):c.99G>T (p.Ala33=) rs772424729

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