ClinVar Miner

List of variants in gene HEXB studied for GM2 gangliosidosis

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 731
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HGVS dbSNP gnomAD frequency
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser) rs820878 0.97243
NM_000521.4(HEXB):c.558+45G>A rs1665894 0.89050
NM_000521.4(HEXB):c.-126C>T rs71627068 0.55186
NM_000521.4(HEXB):c.-122del rs70976124 0.55177
NM_000521.4(HEXB):c.300-32C>T rs35711978 0.23197
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) rs11556045 0.20835
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) rs10805890 0.12644
NM_000521.4(HEXB):c.772-4A>G rs17561000 0.06806
NM_000521.4(HEXB):c.-175G>A rs73117116 0.03911
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu) rs820878 0.02757
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) rs148268937 0.00967
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) rs77499935 0.00923
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) rs147155126 0.00758
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) rs114661695 0.00596
NM_000521.4(HEXB):c.276C>T (p.Thr92=) rs140509633 0.00569
NM_000521.4(HEXB):c.383T>G (p.Leu128Arg) rs113678356 0.00177
NM_000521.4(HEXB):c.1082+13C>T rs201428805 0.00080
NM_000521.4(HEXB):c.1417+11C>T rs146572414 0.00062
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) rs145056714 0.00051
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) rs28942073 0.00046
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) rs137915238 0.00035
NM_000521.4(HEXB):c.1437A>C (p.Gln479His) rs139129900 0.00034
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282 0.00031
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000521.4(HEXB):c.299+7G>C rs371930917 0.00017
NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys) rs143635580 0.00016
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) rs140627230 0.00016
NM_000521.4(HEXB):c.1670A>G (p.Ter557=) rs576145664 0.00016
NM_000521.4(HEXB):c.558+16A>G rs191028207 0.00013
NM_000521.4(HEXB):c.1536A>G (p.Arg512=) rs139971120 0.00012
NM_000521.4(HEXB):c.1589C>G (p.Thr530Arg) rs531151091 0.00012
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) rs121907984 0.00012
NM_000521.4(HEXB):c.978G>C (p.Leu326=) rs138261300 0.00011
NM_000521.3(HEXB):c.-52C>A rs886060748 0.00009
NM_000521.4(HEXB):c.1279A>G (p.Ser427Gly) rs749347602 0.00008
NM_000521.4(HEXB):c.216C>T (p.Leu72=) rs780221860 0.00008
NM_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358 0.00006
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) rs202227927 0.00005
NM_000521.4(HEXB):c.1251G>A (p.Pro417=) rs144264311 0.00005
NM_000521.4(HEXB):c.1572C>T (p.Asp524=) rs770560389 0.00005
NM_000521.4(HEXB):c.1082+5G>A rs5030731 0.00004
NM_000521.4(HEXB):c.1243-6T>C rs759404927 0.00004
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) rs121907982 0.00004
NM_000521.4(HEXB):c.1374A>G (p.Gln458=) rs200714672 0.00004
NM_000521.4(HEXB):c.1508+7G>A rs1016425766 0.00004
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) rs121907985 0.00004
NM_000521.4(HEXB):c.251A>G (p.Asn84Ser) rs200209801 0.00004
NM_000521.4(HEXB):c.672T>C (p.Asp224=) rs761223179 0.00004
NM_000521.3(HEXB):c.-62G>A rs1045177384 0.00003
NM_000521.4(HEXB):c.-14G>A rs886060749 0.00003
NM_000521.4(HEXB):c.1281C>T (p.Ser427=) rs140443258 0.00003
NM_000521.4(HEXB):c.1419T>C (p.Gly473=) rs150778823 0.00003
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) rs794727049 0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) rs764552042 0.00003
NM_000521.4(HEXB):c.633A>G (p.Arg211=) rs750864626 0.00003
NM_000521.4(HEXB):c.657T>C (p.Ile219=) rs141175812 0.00003
NM_000521.4(HEXB):c.1040A>T (p.Gln347Leu) rs754108567 0.00002
NM_000521.4(HEXB):c.1083-14A>C rs776536464 0.00002
NM_000521.4(HEXB):c.1417+5G>A rs763517499 0.00002
NM_000521.4(HEXB):c.1418-5T>C rs773772578 0.00002
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp) rs751592419 0.00002
NM_000521.4(HEXB):c.1614-16_1615dup rs1554037309 0.00002
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg) rs398123448 0.00002
NM_000521.4(HEXB):c.174C>T (p.Pro58=) rs769964813 0.00002
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys) rs762209256 0.00002
NM_000521.4(HEXB):c.354C>T (p.Phe118=) rs755175110 0.00002
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr) rs779453450 0.00002
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln) rs1352786910 0.00002
NM_000521.4(HEXB):c.1041A>G (p.Gln347=) rs755091383 0.00001
NM_000521.4(HEXB):c.1045A>G (p.Ile349Val) rs373731814 0.00001
NM_000521.4(HEXB):c.1165dup (p.Gln389fs) rs1749680051 0.00001
NM_000521.4(HEXB):c.1242+17C>A rs1223566396 0.00001
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) rs1309123671 0.00001
NM_000521.4(HEXB):c.1243-2A>G rs398123446 0.00001
NM_000521.4(HEXB):c.1243-8G>A rs776913614 0.00001
NM_000521.4(HEXB):c.126G>A (p.Ala42=) rs1457481809 0.00001
NM_000521.4(HEXB):c.1287T>G (p.Tyr429Ter) rs1749739842 0.00001
NM_000521.4(HEXB):c.1332C>G (p.Ile444Met) rs762367349 0.00001
NM_000521.4(HEXB):c.138G>T (p.Pro46=) rs1378693652 0.00001
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) rs762892362 0.00001
NM_000521.4(HEXB):c.1445T>C (p.Ile482Thr) rs773007352 0.00001
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) rs1554034452 0.00001
NM_000521.4(HEXB):c.1482T>C (p.Asp494=) rs1241194558 0.00001
NM_000521.4(HEXB):c.14G>A (p.Gly5Glu) rs1400667054 0.00001
NM_000521.4(HEXB):c.1508+1G>A rs758459585 0.00001
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) rs121907983 0.00001
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro) rs778501777 0.00001
NM_000521.4(HEXB):c.1539C>A (p.Leu513=) rs1258974496 0.00001
NM_000521.4(HEXB):c.156G>A (p.Pro52=) rs758965664 0.00001
NM_000521.4(HEXB):c.1598G>A (p.Arg533His) rs1291555996 0.00001
NM_000521.4(HEXB):c.1614-10T>C rs1579958155 0.00001
NM_000521.4(HEXB):c.1614-16_1622dup rs756912360 0.00001
NM_000521.4(HEXB):c.1614-4A>G rs1182075193 0.00001
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys) rs749646826 0.00001
NM_000521.4(HEXB):c.1625C>T (p.Ala542Val) rs767663018 0.00001
NM_000521.4(HEXB):c.1650T>C (p.Tyr550=) rs1315099188 0.00001
NM_000521.4(HEXB):c.1655A>G (p.Asn552Ser) rs763927371 0.00001
NM_000521.4(HEXB):c.180G>A (p.Pro60=) rs772089862 0.00001
NM_000521.4(HEXB):c.189G>A (p.Val63=) rs145144279 0.00001
NM_000521.4(HEXB):c.210G>T (p.Leu70=) rs552152839 0.00001
NM_000521.4(HEXB):c.249C>T (p.Pro83=) rs776301441 0.00001
NM_000521.4(HEXB):c.331T>C (p.Trp111Arg) rs1193552297 0.00001
NM_000521.4(HEXB):c.33G>T (p.Pro11=) rs1207274571 0.00001
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla) rs768218036 0.00001
NM_000521.4(HEXB):c.36C>T (p.Pro12=) rs1311449316 0.00001
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) rs938611392 0.00001
NM_000521.4(HEXB):c.471G>A (p.Val157=) rs918729308 0.00001
NM_000521.4(HEXB):c.486C>A (p.Ala162=) rs1342668095 0.00001
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) rs753823903 0.00001
NM_000521.4(HEXB):c.509G>A (p.Arg170Gln) rs759538325 0.00001
NM_000521.4(HEXB):c.512-3C>A rs1376742145 0.00001
NM_000521.4(HEXB):c.525T>C (p.Phe175=) rs766197541 0.00001
NM_000521.4(HEXB):c.558+5G>A rs892920643 0.00001
NM_000521.4(HEXB):c.584T>C (p.Ile195Thr) rs765229504 0.00001
NM_000521.4(HEXB):c.59C>A (p.Ala20Glu) rs865822685 0.00001
NM_000521.4(HEXB):c.611G>A (p.Gly204Glu) rs762821794 0.00001
NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter) rs1749130074 0.00001
NM_000521.4(HEXB):c.654T>C (p.Ile218=) rs1395527567 0.00001
NM_000521.4(HEXB):c.66G>A (p.Leu22=) rs1355564918 0.00001
NM_000521.4(HEXB):c.69G>T (p.Leu23=) rs1453045657 0.00001
NM_000521.4(HEXB):c.723C>T (p.Asp241=) rs779260926 0.00001
NM_000521.4(HEXB):c.738T>C (p.Tyr246=) rs777853621 0.00001
NM_000521.4(HEXB):c.778T>C (p.Tyr260His) rs1453919511 0.00001
NM_000521.4(HEXB):c.786G>T (p.Leu262Phe) rs867255937 0.00001
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) rs373979283 0.00001
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) rs138914144 0.00001
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln) rs751678693 0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) rs121907986 0.00001
NM_000521.4(HEXB):c.855C>A (p.Val285=) rs781190762 0.00001
NM_000521.4(HEXB):c.873C>T (p.Thr291=) rs778593630 0.00001
NM_000521.4(HEXB):c.878G>C (p.Gly293Ala) rs1255790136 0.00001
NM_000521.4(HEXB):c.888A>G (p.Leu296=) rs1186019854 0.00001
NM_000521.4(HEXB):c.902-5T>G rs201521887 0.00001
NM_000521.4(HEXB):c.965del (p.Ile322fs) rs768438206 0.00001
GRCh38/hg38 5q13.3(chr5:74695284-74702264)x0
NC_000005.10:g.74685139C>T
NC_000005.10:g.74713507del rs1373278959
NC_000005.9:g.(?_73978914)_(73981242_?)del
NC_000005.9:g.(?_73980960)_(74001165_?)del
NC_000005.9:g.(?_73980968)_(73992932_74001043)del
NC_000005.9:g.(?_73981057)_(73992932_74001043)del
NC_000005.9:g.(?_73981066)_(74017020_?)del
NC_000005.9:g.(?_73981076)_(73981394_?)del
NC_000005.9:g.(?_73985143)_(74014806_?)del
NC_000005.9:g.(?_73992498)_(73992951_?)del
NC_000005.9:g.(?_73992508)_(73992941_?)dup
NC_000005.9:g.(?_74001024)_(74014816_?)del
NC_000005.9:g.(?_74011325)_(74017010_?)del
NG_009770.3:g.48585_63669del
NM_000521.3(HEXB):c.-63G>A rs1748827834
NM_000521.4(HEXB):c.*4dup (p.Ter557=) rs771506320
NM_000521.4(HEXB):c.1005A>G (p.Thr335=)
NM_000521.4(HEXB):c.1010dup (p.Lys338fs) rs1579952143
NM_000521.4(HEXB):c.1015G>T (p.Glu339Ter)
NM_000521.4(HEXB):c.1015_1018del (p.Glu339fs)
NM_000521.4(HEXB):c.1017_1018del (p.Glu339fs) rs2112175206
NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs) rs1749651392
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) rs776476415
NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter) rs1749651571
NM_000521.4(HEXB):c.1024del (p.Glu342fs) rs2112175228
NM_000521.4(HEXB):c.1026G>A (p.Glu342=) rs2112175234
NM_000521.4(HEXB):c.1027G>C (p.Val343Leu) rs774657424
NM_000521.4(HEXB):c.1029G>A (p.Val343=) rs767987520
NM_000521.4(HEXB):c.1029G>C (p.Val343=) rs767987520
NM_000521.4(HEXB):c.102G>T (p.Ala34=)
NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter) rs1749652247
NM_000521.4(HEXB):c.1048C>G (p.His350Asp)
NM_000521.4(HEXB):c.1049A>T (p.His350Leu) rs2112175313
NM_000521.4(HEXB):c.1050T>C (p.His350=)
NM_000521.4(HEXB):c.1053G>C (p.Leu351Phe)
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg) rs1749652995
NM_000521.4(HEXB):c.1061A>G (p.Asp354Gly) rs781244479
NM_000521.4(HEXB):c.1062T>C (p.Asp354=) rs1749653155
NM_000521.4(HEXB):c.1066G>A (p.Val356Met)
NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter) rs1354786875
NM_000521.4(HEXB):c.1082+12C>T
NM_000521.4(HEXB):c.1082+13C>A
NM_000521.4(HEXB):c.1082+20C>G
NM_000521.4(HEXB):c.1082+2T>C rs989299922
NM_000521.4(HEXB):c.1082+5G>C rs5030731
NM_000521.4(HEXB):c.1082+7T>A rs1249872768
NM_000521.4(HEXB):c.1082+7T>C
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter) rs1361998528
NM_000521.4(HEXB):c.1083-10T>A rs2112176963
NM_000521.4(HEXB):c.1083-10T>C
NM_000521.4(HEXB):c.1083-12T>G
NM_000521.4(HEXB):c.1083-15C>A
NM_000521.4(HEXB):c.1083-6C>G
NM_000521.4(HEXB):c.1086A>G (p.Glu362=) rs2112176992
NM_000521.4(HEXB):c.108G>A (p.Val36=) rs1275258823
NM_000521.4(HEXB):c.109G>T (p.Val37Leu)
NM_000521.4(HEXB):c.1101T>C (p.Ile367=) rs1749677760
NM_000521.4(HEXB):c.1104A>C (p.Gln368His)
NM_000521.4(HEXB):c.1107T>C (p.Asp369=)
NM_000521.4(HEXB):c.1125C>T (p.Gly375=)
NM_000521.4(HEXB):c.1133C>T (p.Thr378Ile)
NM_000521.4(HEXB):c.1134A>G (p.Thr378=)
NM_000521.4(HEXB):c.1138_1140delinsA (p.Phe380fs)
NM_000521.4(HEXB):c.1144A>T (p.Lys382Ter) rs1306678448
NM_000521.4(HEXB):c.1149A>G (p.Leu383=) rs1336014813
NM_000521.4(HEXB):c.114G>A (p.Gln38=)
NM_000521.4(HEXB):c.1155T>C (p.Ser385=)
NM_000521.4(HEXB):c.1156_1159del (p.Phe386fs) rs1272697701
NM_000521.4(HEXB):c.1158C>T (p.Phe386=)
NM_000521.4(HEXB):c.1159_1160insTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTCTTTTCCTTTTATTTTATTTTTTGAGACGGAGTCTTGCTCTGTTGTCTGGGTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTTCCTCCCAGGTTGAAGCGGAAACTAGAATCTTTCT (p.Tyr387delinsPhePhePhePhePhePheXaaXaaXaaXaaPhePhePheSerPheTyrPheIlePheTer) rs2112177114
NM_000521.4(HEXB):c.115del (p.Val39fs) rs398123443
NM_000521.4(HEXB):c.1161C>T (p.Tyr387=) rs2112177152
NM_000521.4(HEXB):c.1169+18C>T
NM_000521.4(HEXB):c.1169+1G>A
NM_000521.4(HEXB):c.1169+1G>C rs2112177192
NM_000521.4(HEXB):c.1169+3_1169+10del rs398123444
NM_000521.4(HEXB):c.1169+5G>C
NM_000521.4(HEXB):c.1169+8G>A
NM_000521.4(HEXB):c.1169+8G>T rs778530133
NM_000521.4(HEXB):c.1170-10G>A
NM_000521.4(HEXB):c.1170-11T>C
NM_000521.4(HEXB):c.1170-11T>G
NM_000521.4(HEXB):c.1170-11del
NM_000521.4(HEXB):c.1170-11dup
NM_000521.4(HEXB):c.1170-12T>G
NM_000521.4(HEXB):c.1170-16T>A
NM_000521.4(HEXB):c.1170-16T>G
NM_000521.4(HEXB):c.1170-17T>A
NM_000521.4(HEXB):c.1170-18A>C
NM_000521.4(HEXB):c.1170-18A>T
NM_000521.4(HEXB):c.1170-4C>T rs2112179635
NM_000521.4(HEXB):c.1170-5A>C
NM_000521.4(HEXB):c.1170-6T>C rs2112179633
NM_000521.4(HEXB):c.1170-9T>A
NM_000521.4(HEXB):c.117G>T (p.Val39=)
NM_000521.4(HEXB):c.118G>T (p.Ala40Ser)
NM_000521.4(HEXB):c.118del (p.Ala40fs) rs1554034447
NM_000521.4(HEXB):c.1191C>T (p.Thr397=)
NM_000521.4(HEXB):c.120G>A (p.Ala40=)
NM_000521.4(HEXB):c.1216C>T (p.Gln406Ter)
NM_000521.4(HEXB):c.1219G>T (p.Glu407Ter)
NM_000521.4(HEXB):c.1227dup (p.Asp410Ter)
NM_000521.4(HEXB):c.1240A>T (p.Lys414Ter)
NM_000521.4(HEXB):c.1242+10G>A
NM_000521.4(HEXB):c.1242+18T>C
NM_000521.4(HEXB):c.1242+3G>A
NM_000521.4(HEXB):c.1242+3G>T rs778226392
NM_000521.4(HEXB):c.1242+9dup
NM_000521.4(HEXB):c.1243-15T>C
NM_000521.4(HEXB):c.1243-18A>C
NM_000521.4(HEXB):c.1243-20G>A
NM_000521.4(HEXB):c.1243-9C>A
NM_000521.4(HEXB):c.1243-9C>T rs771008510
NM_000521.4(HEXB):c.1251G>C (p.Pro417=)
NM_000521.4(HEXB):c.1251G>T (p.Pro417=) rs144264311
NM_000521.4(HEXB):c.1252G>C (p.Gly418Arg)
NM_000521.4(HEXB):c.1253G>A (p.Gly418Asp)
NM_000521.4(HEXB):c.1263T>G (p.Val421=) rs1454392093
NM_000521.4(HEXB):c.1263_1268del (p.Glu422_Val423del)
NM_000521.4(HEXB):c.1264dup (p.Glu422fs) rs2112180571
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val) rs757550590
NM_000521.4(HEXB):c.126G>T (p.Ala42=) rs1457481809
NM_000521.4(HEXB):c.1275A>G (p.Lys425=) rs2112180604
NM_000521.4(HEXB):c.1276G>A (p.Asp426Asn)
NM_000521.4(HEXB):c.1276G>C (p.Asp426His)
NM_000521.4(HEXB):c.1278_1279del (p.Asp426fs) rs2112180614
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser) rs797045614
NM_000521.4(HEXB):c.1284A>G (p.Ala428=)
NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter) rs1749739842
NM_000521.4(HEXB):c.1288_1294del (p.Pro430fs)
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) rs775920504
NM_000521.4(HEXB):c.1296A>G (p.Glu432=) rs1456292951
NM_000521.4(HEXB):c.1299_1303del (p.Arg435fs) rs2112180705
NM_000521.4(HEXB):c.12C>T (p.Cys4=) rs2112122203
NM_000521.4(HEXB):c.1303_1304insT (p.Arg435fs) rs2112180739
NM_000521.4(HEXB):c.1303del (p.Arg435fs)
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs) rs779328596
NM_000521.4(HEXB):c.130C>T (p.Arg44Trp)
NM_000521.4(HEXB):c.1310_1311del (p.Thr437fs) rs761240717
NM_000521.4(HEXB):c.1314A>G (p.Ala438=)
NM_000521.4(HEXB):c.1320C>G (p.Gly440=) rs976848045
NM_000521.4(HEXB):c.1320C>T (p.Gly440=)
NM_000521.4(HEXB):c.1335T>G (p.Leu445=)
NM_000521.4(HEXB):c.133del (p.Ala45fs) rs1554034449
NM_000521.4(HEXB):c.1345del (p.Trp449fs) rs1324338803
NM_000521.4(HEXB):c.1350C>T (p.Tyr450=)
NM_000521.4(HEXB):c.135C>T (p.Ala45=) rs1748837958
NM_000521.4(HEXB):c.1362T>A (p.Ile454=) rs552896059
NM_000521.4(HEXB):c.1365C>G (p.Ser455Arg) rs2112180879
NM_000521.4(HEXB):c.1365C>T (p.Ser455=)
NM_000521.4(HEXB):c.136C>G (p.Pro46Ala) rs1392645389
NM_000521.4(HEXB):c.1377T>C (p.Asp459=)
NM_000521.4(HEXB):c.1379G>A (p.Trp460Ter)
NM_000521.4(HEXB):c.1382G>A (p.Arg461Lys) rs2112180932
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) rs1554036943
NM_000521.4(HEXB):c.1389_1393del (p.Tyr463_Lys465delinsTer) rs2112180944
NM_000521.4(HEXB):c.138G>A (p.Pro46=) rs1378693652
NM_000521.4(HEXB):c.1398G>A (p.Val466=)
NM_000521.4(HEXB):c.1404del (p.Asp470fs) rs2112180987
NM_000521.4(HEXB):c.1408_1409insCA (p.Asp470fs)
NM_000521.4(HEXB):c.1416C>T (p.Gly472=)
NM_000521.4(HEXB):c.1417+14T>C
NM_000521.4(HEXB):c.1417+19C>T
NM_000521.4(HEXB):c.1417+1G>T
NM_000521.4(HEXB):c.1417+9A>G rs755763718
NM_000521.4(HEXB):c.1418-11T>C
NM_000521.4(HEXB):c.1418-12_1418del rs1554037076
NM_000521.4(HEXB):c.1418-13G>T
NM_000521.4(HEXB):c.1418-15A>G
NM_000521.4(HEXB):c.1418-15A>T
NM_000521.4(HEXB):c.1418-16A>G
NM_000521.4(HEXB):c.1418-18_1418-14del
NM_000521.4(HEXB):c.1418-19T>G
NM_000521.4(HEXB):c.1418-21_1418-19del
NM_000521.4(HEXB):c.1418-9T>G
NM_000521.4(HEXB):c.1425GAAACA[1] (p.476KQ[1]) rs750595127
NM_000521.4(HEXB):c.1431_1432del (p.Lys478fs)
NM_000521.4(HEXB):c.1434_1437dup (p.Leu480fs)
NM_000521.4(HEXB):c.1434dup (p.Gln479fs)
NM_000521.4(HEXB):c.1435_1436del (p.Gln479fs)
NM_000521.4(HEXB):c.1437A>G (p.Gln479=) rs139129900
NM_000521.4(HEXB):c.1448G>C (p.Gly483Ala) rs760333736
NM_000521.4(HEXB):c.1462_1481dup (p.Ala495fs)
NM_000521.4(HEXB):c.1464A>G (p.Leu488=)
NM_000521.4(HEXB):c.1465T>C (p.Trp489Arg)
NM_000521.4(HEXB):c.1469del (p.Gly490fs)
NM_000521.4(HEXB):c.1469dup (p.Glu491fs)
NM_000521.4(HEXB):c.1472A>G (p.Glu491Gly)
NM_000521.4(HEXB):c.1473A>G (p.Glu491=)
NM_000521.4(HEXB):c.1474T>A (p.Tyr492Asn)
NM_000521.4(HEXB):c.1474_1477delinsAA (p.Tyr492fs) rs1749803258
NM_000521.4(HEXB):c.1476T>C (p.Tyr492=)
NM_000521.4(HEXB):c.1478_1479del (p.Val493fs)
NM_000521.4(HEXB):c.1479G>A (p.Val493=)
NM_000521.4(HEXB):c.147G>A (p.Ser49=)
NM_000521.4(HEXB):c.147G>C (p.Ser49=)
NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly) rs1554037088
NM_000521.4(HEXB):c.1489A>C (p.Asn497His)
NM_000521.4(HEXB):c.1492C>T (p.Leu498Phe)
NM_000521.4(HEXB):c.1494C>G (p.Leu498=) rs149960235
NM_000521.4(HEXB):c.1494C>T (p.Leu498=) rs149960235
NM_000521.4(HEXB):c.1500A>G (p.Pro500=) rs2112185426
NM_000521.4(HEXB):c.1508+11T>C
NM_000521.4(HEXB):c.1508+12A>G
NM_000521.4(HEXB):c.1508+15T>C
NM_000521.4(HEXB):c.1508+18T>C
NM_000521.4(HEXB):c.1508+6G>C
NM_000521.4(HEXB):c.1509-10T>C
NM_000521.4(HEXB):c.1509-12T>A
NM_000521.4(HEXB):c.1509-12T>C
NM_000521.4(HEXB):c.1509-15T>C
NM_000521.4(HEXB):c.1509-18G>A
NM_000521.4(HEXB):c.1509-20A>T
NM_000521.4(HEXB):c.1509-21_1509-13del
NM_000521.4(HEXB):c.1509-21del rs747523020
NM_000521.4(HEXB):c.1509-26G>A rs201580118
NM_000521.4(HEXB):c.1509-26G>C rs201580118
NM_000521.4(HEXB):c.1509-4T>C rs2112185863
NM_000521.4(HEXB):c.1509-7A>T rs2112185850
NM_000521.4(HEXB):c.1509-7dup rs1749809709
NM_000521.4(HEXB):c.1509-8A>T
NM_000521.4(HEXB):c.150C>T (p.Ala50=) rs779421706
NM_000521.4(HEXB):c.1512T>C (p.Pro504=) rs1469774539
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro) rs121907983
NM_000521.4(HEXB):c.1517_1529dup (p.Glu511fs) rs797044644
NM_000521.4(HEXB):c.1518A>C (p.Ala506=)
NM_000521.4(HEXB):c.1520del (p.Ser507fs) rs1554037120
NM_000521.4(HEXB):c.1529_1550dup (p.Lys517_Asp518insTer)
NM_000521.4(HEXB):c.1534A>C (p.Arg512=)
NM_000521.4(HEXB):c.1535_1536del (p.Arg512fs) rs794727091
NM_000521.4(HEXB):c.1539C>T (p.Leu513=) rs1258974496
NM_000521.4(HEXB):c.1540_1541del (p.Trp514fs)
NM_000521.4(HEXB):c.1542G>C (p.Trp514Cys) rs1417317737
NM_000521.4(HEXB):c.1552del (p.Asp518fs)
NM_000521.4(HEXB):c.1558dup (p.Arg520fs)
NM_000521.4(HEXB):c.1559_1562dup (p.Asp521fs) rs1554037129
NM_000521.4(HEXB):c.1560A>G (p.Arg520=) rs1184573477
NM_000521.4(HEXB):c.1563T>C (p.Asp521=) rs2112186134
NM_000521.4(HEXB):c.1563_1573del (p.Met522fs) rs1749812910
NM_000521.4(HEXB):c.1569T>C (p.Asp523=)
NM_000521.4(HEXB):c.1573G>A (p.Ala525Thr)
NM_000521.4(HEXB):c.1575C>T (p.Ala525=)
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) rs1554037137
NM_000521.4(HEXB):c.1577_1578del (p.Ala525_Tyr526insTer)
NM_000521.4(HEXB):c.1578T>G (p.Tyr526Ter) rs1460801055
NM_000521.4(HEXB):c.1579dup (p.Asp527fs)
NM_000521.4(HEXB):c.1581C>T (p.Asp527=)
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile) rs760366178
NM_000521.4(HEXB):c.1586_1589del (p.Leu529fs) rs2112186316
NM_000521.4(HEXB):c.1593G>A (p.Arg531=)
NM_000521.4(HEXB):c.159G>A (p.Gly53=) rs1428463982
NM_000521.4(HEXB):c.159G>T (p.Gly53=)
NM_000521.4(HEXB):c.15G>T (p.Gly5=)
NM_000521.4(HEXB):c.1600T>C (p.Cys534Arg)
NM_000521.4(HEXB):c.1603A>G (p.Arg535Gly)
NM_000521.4(HEXB):c.1605G>A (p.Arg535=)
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000521.4(HEXB):c.160C>T (p.Pro54Ser)
NM_000521.4(HEXB):c.1611C>T (p.Val537=)
NM_000521.4(HEXB):c.1611_1613+2del rs1554037170
NM_000521.4(HEXB):c.1613+10del rs2112186585
NM_000521.4(HEXB):c.1613+11T>G
NM_000521.4(HEXB):c.1613+13_1613+15del
NM_000521.4(HEXB):c.1613+14T>A
NM_000521.4(HEXB):c.1613+14del rs754704434
NM_000521.4(HEXB):c.1613+15_1613+16dup
NM_000521.4(HEXB):c.1613+15_1613+18dup rs779273534
NM_000521.4(HEXB):c.1613+15_1613+19dup
NM_000521.4(HEXB):c.1613+17G>T
NM_000521.4(HEXB):c.1613+19C>G
NM_000521.4(HEXB):c.1613+19C>T
NM_000521.4(HEXB):c.1613+6_1613+21dup rs2112186573
NM_000521.4(HEXB):c.1613+7_1613+21dup
NM_000521.4(HEXB):c.1613+8A>C
NM_000521.4(HEXB):c.1614-13A>G
NM_000521.4(HEXB):c.1614-19_1614-18del
NM_000521.4(HEXB):c.1614-25_1614-7dup rs1554037306
NM_000521.4(HEXB):c.1614-6C>T
NM_000521.4(HEXB):c.1614-6_1628dup rs2112188881
NM_000521.4(HEXB):c.1614-7_1614-1dup rs2112188865
NM_000521.4(HEXB):c.1614-7dup rs2112188857
NM_000521.4(HEXB):c.1614-8A>G rs745567727
NM_000521.4(HEXB):c.1614-8_1614-6dup rs1271274603
NM_000521.4(HEXB):c.1614-9T>C
NM_000521.4(HEXB):c.1617T>A (p.Arg539=)
NM_000521.4(HEXB):c.1626T>C (p.Ala542=)
NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del) rs1554037322
NM_000521.4(HEXB):c.1629A>G (p.Ala543=)
NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys) rs766477016
NM_000521.4(HEXB):c.1635T>G (p.Pro545=)
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
NM_000521.4(HEXB):c.1641T>C (p.Tyr547=) rs2112189098
NM_000521.4(HEXB):c.1641_1654del (p.Tyr547_Asn552delinsTer) rs2112189087
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs) rs1749847524
NM_000521.4(HEXB):c.1645G>T (p.Gly549Ter)
NM_000521.4(HEXB):c.164C>T (p.Ala55Val)
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) rs727503961
NM_000521.4(HEXB):c.1653T>C (p.Cys551=)
NM_000521.4(HEXB):c.165G>T (p.Ala55=)
NM_000521.4(HEXB):c.166C>T (p.Leu56=)
NM_000521.4(HEXB):c.1671A>G (p.Ter557=)
NM_000521.4(HEXB):c.16C>T (p.Leu6=) rs1580376985
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) rs1114167287
NM_000521.4(HEXB):c.171del (p.Trp57fs) rs771973471
NM_000521.4(HEXB):c.176T>C (p.Leu59Pro) rs774155487
NM_000521.4(HEXB):c.181C>T (p.Leu61Phe)
NM_000521.4(HEXB):c.197C>T (p.Thr66Ile)
NM_000521.4(HEXB):c.201G>A (p.Pro67=) rs371914695
NM_000521.4(HEXB):c.201del (p.Asn68fs)
NM_000521.4(HEXB):c.20G>A (p.Gly7Glu)
NM_000521.4(HEXB):c.219C>A (p.Ala73=)
NM_000521.4(HEXB):c.219C>G (p.Ala73=) rs771754401
NM_000521.4(HEXB):c.21G>A (p.Gly7=)
NM_000521.4(HEXB):c.221C>G (p.Pro74Arg)
NM_000521.4(HEXB):c.230_232del (p.Phe77del) rs1554034490
NM_000521.4(HEXB):c.231C>T (p.Phe77=)
NM_000521.4(HEXB):c.234C>T (p.Tyr78=)
NM_000521.4(HEXB):c.236T>C (p.Ile79Thr)
NM_000521.4(HEXB):c.240C>T (p.Ser80=) rs2112123022
NM_000521.4(HEXB):c.250A>C (p.Asn84His)
NM_000521.4(HEXB):c.255C>T (p.Ser85=)
NM_000521.4(HEXB):c.257_268delinsGC (p.Thr86fs)
NM_000521.4(HEXB):c.261G>A (p.Ala87=)
NM_000521.4(HEXB):c.264C>A (p.Gly88=)
NM_000521.4(HEXB):c.264C>G (p.Gly88=)
NM_000521.4(HEXB):c.267C>T (p.Pro89=)
NM_000521.4(HEXB):c.269C>G (p.Ser90Cys)
NM_000521.4(HEXB):c.272G>C (p.Cys91Ser) rs1057518709
NM_000521.4(HEXB):c.276C>A (p.Thr92=) rs140509633
NM_000521.4(HEXB):c.277del (p.Leu93fs)
NM_000521.4(HEXB):c.282G>A (p.Leu94=)
NM_000521.4(HEXB):c.283del (p.Glu95fs) rs1748845774
NM_000521.4(HEXB):c.289G>A (p.Ala97Thr)
NM_000521.4(HEXB):c.295_296delinsT (p.Arg99fs)
NM_000521.4(HEXB):c.295_297delinsT (p.Arg99fs)
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter) rs1007338250
NM_000521.4(HEXB):c.298del (p.Arg100fs) rs886039499
NM_000521.4(HEXB):c.299+12C>T
NM_000521.4(HEXB):c.299+14G>A
NM_000521.4(HEXB):c.299+15_299+23del
NM_000521.4(HEXB):c.299+17C>A
NM_000521.4(HEXB):c.299+17C>G
NM_000521.4(HEXB):c.299+18G>T
NM_000521.4(HEXB):c.299+19G>A
NM_000521.4(HEXB):c.299+1G>A rs1554034505
NM_000521.4(HEXB):c.299G>C (p.Arg100Pro) rs1060499701
NM_000521.4(HEXB):c.300-18C>T
NM_000521.4(HEXB):c.300-1G>A rs967720287
NM_000521.4(HEXB):c.300-1G>C rs967720287
NM_000521.4(HEXB):c.300-1_300del
NM_000521.4(HEXB):c.300-20T>C
NM_000521.4(HEXB):c.300-4dup
NM_000521.4(HEXB):c.300-6A>G
NM_000521.4(HEXB):c.300-7C>T rs2112129012
NM_000521.4(HEXB):c.300A>C (p.Arg100=) rs1303786596
NM_000521.4(HEXB):c.302A>G (p.Tyr101Cys) rs1748942839
NM_000521.4(HEXB):c.303T>C (p.Tyr101=) rs768307371
NM_000521.4(HEXB):c.306T>C (p.His102=)
NM_000521.4(HEXB):c.321T>A (p.Gly107=)
NM_000521.4(HEXB):c.32C>T (p.Pro11Leu)
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter) rs1748943719
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter) rs761117459
NM_000521.4(HEXB):c.333G>C (p.Trp111Cys)
NM_000521.4(HEXB):c.339T>C (p.His113=) rs1748944024
NM_000521.4(HEXB):c.341_342del (p.Glu114fs)
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del) rs760427424
NM_000521.4(HEXB):c.345T>C (p.Pro115=) rs1467307393
NM_000521.4(HEXB):c.34C>T (p.Pro12Ser)
NM_000521.4(HEXB):c.378A>G (p.Gln126=) rs2112129226
NM_000521.4(HEXB):c.381T>C (p.Leu127=) rs2112129230
NM_000521.4(HEXB):c.387C>G (p.Val129=)
NM_000521.4(HEXB):c.390A>C (p.Ser130=) rs1748945386
NM_000521.4(HEXB):c.392T>G (p.Ile131Ser) rs1748945643
NM_000521.4(HEXB):c.408G>A (p.Glu136=)
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg)
NM_000521.4(HEXB):c.425A>G (p.Asn142Ser)
NM_000521.4(HEXB):c.42G>A (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.42G>C (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.42G>T (p.Leu14=) rs1580377030
NM_000521.4(HEXB):c.439G>T (p.Glu147Ter)
NM_000521.4(HEXB):c.441G>A (p.Glu147=)
NM_000521.4(HEXB):c.444T>G (p.Ser148=)
NM_000521.4(HEXB):c.445+11A>G
NM_000521.4(HEXB):c.445+12T>C
NM_000521.4(HEXB):c.445+12T>G
NM_000521.4(HEXB):c.445+14C>T
NM_000521.4(HEXB):c.445+16A>G
NM_000521.4(HEXB):c.445+1G>A rs761197472
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_000521.4(HEXB):c.445+7A>G rs2112129385
NM_000521.4(HEXB):c.445+8C>T
NM_000521.4(HEXB):c.446-12T>C
NM_000521.4(HEXB):c.446-16dup
NM_000521.4(HEXB):c.446-21_446-14del
NM_000521.4(HEXB):c.446-4A>G
NM_000521.4(HEXB):c.446-6A>T rs763290427
NM_000521.4(HEXB):c.446-7A>G rs775644956
NM_000521.4(HEXB):c.447T>A (p.Tyr149Ter) rs1319123888
NM_000521.4(HEXB):c.450T>A (p.Thr150=) rs2112135859
NM_000521.4(HEXB):c.451_452dup (p.Leu151fs) rs1749049871
NM_000521.4(HEXB):c.452T>A (p.Leu151Ter) rs2112135868
NM_000521.4(HEXB):c.477C>T (p.Val159=)
NM_000521.4(HEXB):c.488A>G (p.Asn163Ser)
NM_000521.4(HEXB):c.495T>C (p.Val165=)
NM_000521.4(HEXB):c.500G>C (p.Gly167Ala) rs951616685
NM_000521.4(HEXB):c.504A>C (p.Ala168=) rs993517054
NM_000521.4(HEXB):c.50T>A (p.Leu17Gln)
NM_000521.4(HEXB):c.511+10A>C rs1172289714
NM_000521.4(HEXB):c.511+10A>G
NM_000521.4(HEXB):c.511+14A>G
NM_000521.4(HEXB):c.511+16T>G
NM_000521.4(HEXB):c.511+7T>C
NM_000521.4(HEXB):c.512-112T>G rs1696979
NM_000521.4(HEXB):c.512-12T>C
NM_000521.4(HEXB):c.512-18A>G
NM_000521.4(HEXB):c.512-1G>T rs1554035308
NM_000521.4(HEXB):c.512G>T (p.Gly171Val)
NM_000521.4(HEXB):c.516A>G (p.Leu172=)
NM_000521.4(HEXB):c.519G>A (p.Glu173=) rs1422448735
NM_000521.4(HEXB):c.522C>A (p.Thr174=)
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter) rs1749120310
NM_000521.4(HEXB):c.52C>T (p.Leu18=)
NM_000521.4(HEXB):c.531G>A (p.Gln177=) rs923395829
NM_000521.4(HEXB):c.534A>G (p.Leu178=)
NM_000521.4(HEXB):c.534_537del (p.Leu178fs)
NM_000521.4(HEXB):c.535_538del (p.Val179fs)
NM_000521.4(HEXB):c.539A>G (p.Tyr180Cys)
NM_000521.4(HEXB):c.540T>C (p.Tyr180=)
NM_000521.4(HEXB):c.542A>C (p.Gln181Pro) rs1177358563
NM_000521.4(HEXB):c.552T>C (p.Tyr184=) rs573447174
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.558+10A>G
NM_000521.4(HEXB):c.558+16A>T
NM_000521.4(HEXB):c.558+18_558+19del
NM_000521.4(HEXB):c.558+19T>C
NM_000521.4(HEXB):c.558+1G>C rs1198764997
NM_000521.4(HEXB):c.558+7A>G
NM_000521.4(HEXB):c.558+7A>T rs1252577576
NM_000521.4(HEXB):c.559-11T>C
NM_000521.4(HEXB):c.559-16T>A
NM_000521.4(HEXB):c.559-18A>G
NM_000521.4(HEXB):c.559-18A>T rs374665376
NM_000521.4(HEXB):c.559-1G>A
NM_000521.4(HEXB):c.559-1G>T rs1311903314
NM_000521.4(HEXB):c.559-4A>G rs1417706193
NM_000521.4(HEXB):c.55T>C (p.Leu19=) rs2112122357
NM_000521.4(HEXB):c.563C>T (p.Thr188Ile) rs1352027066
NM_000521.4(HEXB):c.565A>G (p.Ile189Val)
NM_000521.4(HEXB):c.567C>A (p.Ile189=) rs2112141498
NM_000521.4(HEXB):c.567C>T (p.Ile189=) rs2112141498
NM_000521.4(HEXB):c.56del (p.Leu19fs) rs1554034423
NM_000521.4(HEXB):c.571_574del (p.Glu191fs) rs1749127843
NM_000521.4(HEXB):c.582T>C (p.Ile194=) rs2112141535
NM_000521.4(HEXB):c.591T>C (p.Ser197=)
NM_000521.4(HEXB):c.592C>T (p.Pro198Ser)
NM_000521.4(HEXB):c.594A>G (p.Pro198=)
NM_000521.4(HEXB):c.597G>A (p.Arg199=) rs1206573829
NM_000521.4(HEXB):c.60G>A (p.Ala20=)
NM_000521.4(HEXB):c.617T>A (p.Leu206Ter)
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del) rs1554034424
NM_000521.4(HEXB):c.626del (p.Thr209fs)
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del) rs887796660
NM_000521.4(HEXB):c.630C>T (p.Ser210=)
NM_000521.4(HEXB):c.632G>C (p.Arg211Thr)
NM_000521.4(HEXB):c.63A>G (p.Thr21=)
NM_000521.4(HEXB):c.646G>A (p.Val216Ile)
NM_000521.4(HEXB):c.64C>T (p.Leu22=)
NM_000521.4(HEXB):c.64_65del (p.Leu22fs) rs1748834145
NM_000521.4(HEXB):c.651G>A (p.Lys217=)
NM_000521.4(HEXB):c.652ATT[1] (p.Ile219del) rs1749130533
NM_000521.4(HEXB):c.654T>A (p.Ile218=) rs1395527567
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro) rs1749130818
NM_000521.4(HEXB):c.660T>G (p.Leu220=) rs914649805
NM_000521.4(HEXB):c.669+10T>C rs2112141738
NM_000521.4(HEXB):c.669+10T>G rs2112141738
NM_000521.4(HEXB):c.669+12C>T
NM_000521.4(HEXB):c.669+16A>G
NM_000521.4(HEXB):c.669G>A (p.Leu223=) rs773385077
NM_000521.4(HEXB):c.670-10T>C
NM_000521.4(HEXB):c.670-10T>G rs763971063
NM_000521.4(HEXB):c.670-13T>C
NM_000521.4(HEXB):c.670-14A>T
NM_000521.4(HEXB):c.670-14_670-13del rs886060751
NM_000521.4(HEXB):c.670-6T>C
NM_000521.4(HEXB):c.670-8G>A rs2112156271
NM_000521.4(HEXB):c.670-9T>G rs2112156269
NM_000521.4(HEXB):c.675C>T (p.Ala225=)
NM_000521.4(HEXB):c.680C>A (p.Ala227Asp)
NM_000521.4(HEXB):c.692_693del (p.Lys230_Phe231insTer)
NM_000521.4(HEXB):c.699T>C (p.Val233=)
NM_000521.4(HEXB):c.69G>A (p.Leu23=) rs1453045657
NM_000521.4(HEXB):c.703C>T (p.His235Tyr) rs1554035822
NM_000521.4(HEXB):c.705C>G (p.His235Gln) rs2112156345
NM_000521.4(HEXB):c.705C>T (p.His235=) rs2112156345
NM_000521.4(HEXB):c.707G>A (p.Trp236Ter)
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del) rs1554034426
NM_000521.4(HEXB):c.710A>G (p.His237Arg)
NM_000521.4(HEXB):c.711C>T (p.His237=)
NM_000521.4(HEXB):c.729T>C (p.Ser243=)
NM_000521.4(HEXB):c.72G>A (p.Ala24=)
NM_000521.4(HEXB):c.731del (p.Phe244fs) rs2112156393
NM_000521.4(HEXB):c.735A>T (p.Pro245=) rs758398934
NM_000521.4(HEXB):c.738T>A (p.Tyr246Ter)
NM_000521.4(HEXB):c.739C>T (p.Gln247Ter) rs1749359626
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del) rs745791892
NM_000521.4(HEXB):c.758del (p.Glu253fs)
NM_000521.4(HEXB):c.759G>A (p.Glu253=)
NM_000521.4(HEXB):c.75G>A (p.Ala25=) rs1416490499
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser) rs771103635
NM_000521.4(HEXB):c.766A>C (p.Asn256His) rs2112156485
NM_000521.4(HEXB):c.76del (p.Met26fs) rs1580377105
NM_000521.4(HEXB):c.770A>C (p.Lys257Thr)
NM_000521.4(HEXB):c.771+10T>C
NM_000521.4(HEXB):c.771+14A>G
NM_000521.4(HEXB):c.771+17G>C
NM_000521.4(HEXB):c.771+20C>G
NM_000521.4(HEXB):c.771+20C>T
NM_000521.4(HEXB):c.771+5G>C rs727503959
NM_000521.4(HEXB):c.771+8A>C
NM_000521.4(HEXB):c.771+985G>A
NM_000521.4(HEXB):c.771+9A>G rs768648039
NM_000521.4(HEXB):c.772-12T>C
NM_000521.4(HEXB):c.772-2A>C
NM_000521.4(HEXB):c.772-5T>C rs2112171612
NM_000521.4(HEXB):c.772-8T>C rs540508015
NM_000521.4(HEXB):c.782_785del (p.Ser261fs) rs1312009126
NM_000521.4(HEXB):c.785T>A (p.Leu262Ter)
NM_000521.4(HEXB):c.78G>A (p.Met26Ile) rs886060750
NM_000521.4(HEXB):c.790C>T (p.His264Tyr)
NM_000521.4(HEXB):c.79T>C (p.Leu27=)
NM_000521.4(HEXB):c.7C>T (p.Leu3=)
NM_000521.4(HEXB):c.801A>G (p.Thr267=)
NM_000521.4(HEXB):c.806del (p.Asn269fs) rs2112171738
NM_000521.4(HEXB):c.810T>C (p.Asp270=)
NM_000521.4(HEXB):c.811G>A (p.Val271Ile)
NM_000521.4(HEXB):c.817A>G (p.Met273Val)
NM_000521.4(HEXB):c.81G>A (p.Leu27=)
NM_000521.4(HEXB):c.822G>C (p.Val274=)
NM_000521.4(HEXB):c.824T>C (p.Ile275Thr)
NM_000521.4(HEXB):c.825del (p.Ile275fs) rs1554036523
NM_000521.4(HEXB):c.826_829del (p.Glu276fs)
NM_000521.4(HEXB):c.828A>G (p.Glu276=)
NM_000521.4(HEXB):c.833C>T (p.Ala278Val) rs886044118
NM_000521.4(HEXB):c.838T>C (p.Leu280=) rs1057518432
NM_000521.4(HEXB):c.838_863dup (p.Glu288fs)
NM_000521.4(HEXB):c.839T>G (p.Leu280Ter) rs1579950499
NM_000521.4(HEXB):c.843A>G (p.Arg281=) rs2112171867
NM_000521.4(HEXB):c.844G>C (p.Gly282Arg)
NM_000521.4(HEXB):c.855C>T (p.Val285=) rs781190762
NM_000521.4(HEXB):c.858G>A (p.Leu286=) rs2112171900
NM_000521.4(HEXB):c.858G>T (p.Leu286=)
NM_000521.4(HEXB):c.860del (p.Pro287fs)
NM_000521.4(HEXB):c.867T>A (p.Phe289Leu)
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile) rs2112171931
NM_000521.4(HEXB):c.875dup (p.Gly293fs)
NM_000521.4(HEXB):c.876del (p.His294fs) rs1749604779
NM_000521.4(HEXB):c.879G>C (p.Gly293=) rs1208134816
NM_000521.4(HEXB):c.880C>T (p.His294Tyr) rs2112171970
NM_000521.4(HEXB):c.881A>G (p.His294Arg) rs1749605069
NM_000521.4(HEXB):c.888A>C (p.Leu296=)
NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del) rs1554034432
NM_000521.4(HEXB):c.892del (p.Trp298fs)
NM_000521.4(HEXB):c.893G>A (p.Trp298Ter)
NM_000521.4(HEXB):c.894G>A (p.Trp298Ter)
NM_000521.4(HEXB):c.8del (p.Leu3fs)
NM_000521.4(HEXB):c.901+11G>T
NM_000521.4(HEXB):c.901+1dup
NM_000521.4(HEXB):c.901+7A>C
NM_000521.4(HEXB):c.901+8G>C
NM_000521.4(HEXB):c.901G>C (p.Gly301Arg) rs2112172036
NM_000521.4(HEXB):c.902-15A>C
NM_000521.4(HEXB):c.902-1G>T rs1554036638
NM_000521.4(HEXB):c.90G>A (p.Leu30=)
NM_000521.4(HEXB):c.916_917del (p.Leu306fs) rs2112174996
NM_000521.4(HEXB):c.922C>G (p.Pro308Ala)
NM_000521.4(HEXB):c.924A>C (p.Pro308=)
NM_000521.4(HEXB):c.924A>G (p.Pro308=) rs2112175034
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)
NM_000521.4(HEXB):c.926G>A (p.Cys309Tyr) rs1554036641
NM_000521.4(HEXB):c.937C>T (p.Gln313Ter)
NM_000521.4(HEXB):c.93T>C (p.Thr31=) rs1748835619
NM_000521.4(HEXB):c.946T>C (p.Leu316=)
NM_000521.4(HEXB):c.948G>A (p.Leu316=) rs1749649162
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter) rs1554034434
NM_000521.4(HEXB):c.965T>C (p.Ile322Thr) rs1749649940
NM_000521.4(HEXB):c.969C>A (p.Asn323Lys)
NM_000521.4(HEXB):c.96G>C (p.Gln32His)
NM_000521.4(HEXB):c.971dup (p.Thr325fs)
NM_000521.4(HEXB):c.972T>C (p.Pro324=) rs1749650159
NM_000521.4(HEXB):c.973_1010del (p.Thr325fs)
NM_000521.4(HEXB):c.986C>T (p.Thr329Ile) rs1561226697
NM_000521.4(HEXB):c.987A>G (p.Thr329=)
NM_000521.4(HEXB):c.992_993insAGTATGTA (p.Ser331fs) rs2112175171
NM_000521.4(HEXB):c.993C>T (p.Ser331=) rs2112175174
NM_000521.4(HEXB):c.9G>T (p.Leu3=)
NM_000521.4:c.1_669del

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