ClinVar Miner

List of variants reported as likely benign for GM2 gangliosidosis by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 883
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000521.4(HEXB):c.383T>G (p.Leu128Arg) rs113678356 0.00177
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
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.1248G>A (p.Ala416=) rs137915238 0.00035
NM_000521.4(HEXB):c.1437A>C (p.Gln479His) rs139129900 0.00034
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_000521.4(HEXB):c.918G>C (p.Leu306=) rs140607282 0.00031
NM_000520.6(HEXA):c.1338T>C (p.Pro446=) rs34085965 0.00029
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000520.6(HEXA):c.517C>T (p.Leu173=) rs200743199 0.00017
NM_000521.4(HEXB):c.299+7G>C rs371930917 0.00017
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306 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_000520.6(HEXA):c.1443C>T (p.Ala481=) rs140091006 0.00015
NM_000405.5(GM2A):c.78A>T (p.Lys26Asn) rs28365994 0.00013
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_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496 0.00011
NM_000521.4(HEXB):c.978G>C (p.Leu326=) rs138261300 0.00011
NM_000520.6(HEXA):c.1330+16T>G rs371435283 0.00009
NM_000520.6(HEXA):c.855C>T (p.Gly285=) rs768518776 0.00008
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_000520.6(HEXA):c.102C>T (p.Asp34=) rs377310315 0.00007
NM_000405.5(GM2A):c.427-4G>A rs761411485 0.00006
NM_000521.4(HEXB):c.1269A>G (p.Val423=) rs746407358 0.00006
NC_000015.10:g.72347677C>G rs371023342 0.00005
NM_000520.6(HEXA):c.888T>C (p.Asn296=) rs752260651 0.00005
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_000405.5(GM2A):c.138G>A (p.Ala46=) rs147511920 0.00004
NM_000405.5(GM2A):c.177C>T (p.Ile59=) rs745799277 0.00004
NM_000405.5(GM2A):c.82-15C>T rs369106753 0.00004
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) rs575121167 0.00004
NM_000520.6(HEXA):c.1421+17G>A rs752975043 0.00004
NM_000520.6(HEXA):c.253+20C>T rs772715699 0.00004
NM_000520.6(HEXA):c.347-15T>A rs750626935 0.00004
NM_000520.6(HEXA):c.981C>T (p.Thr327=) rs1271376611 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.251A>G (p.Asn84Ser) rs200209801 0.00004
NM_000521.4(HEXB):c.672T>C (p.Asp224=) rs761223179 0.00004
NM_000405.5(GM2A):c.244-13T>G rs772862761 0.00003
NM_000405.5(GM2A):c.450C>T (p.Ser150=) rs755569739 0.00003
NM_000520.6(HEXA):c.1073+18G>A rs756371964 0.00003
NM_000520.6(HEXA):c.1074-20G>T rs776333373 0.00003
NM_000520.6(HEXA):c.1266G>T (p.Leu422=) rs373023700 0.00003
NM_000520.6(HEXA):c.1421+12C>T rs200757264 0.00003
NM_000520.6(HEXA):c.1422-10T>C rs747528877 0.00003
NM_000520.6(HEXA):c.840G>A (p.Gly280=) rs778823870 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.633A>G (p.Arg211=) rs750864626 0.00003
NM_000521.4(HEXB):c.657T>C (p.Ile219=) rs141175812 0.00003
NM_000405.5(GM2A):c.516C>T (p.Ser172=) rs754452771 0.00002
NM_000520.6(HEXA):c.1014T>C (p.Phe338=) rs149121118 0.00002
NM_000520.6(HEXA):c.120C>T (p.Tyr40=) rs762382202 0.00002
NM_000520.6(HEXA):c.1230C>T (p.Ala410=) rs751185874 0.00002
NM_000520.6(HEXA):c.1557A>G (p.Val519=) rs1327031567 0.00002
NM_000520.6(HEXA):c.1572G>A (p.Gln524=) rs1389009140 0.00002
NM_000520.6(HEXA):c.297A>C (p.Val99=) rs766640260 0.00002
NM_000520.6(HEXA):c.347-12C>T rs761854464 0.00002
NM_000520.6(HEXA):c.459+18A>G rs751790486 0.00002
NM_000520.6(HEXA):c.805+7A>G rs758135123 0.00002
NM_000520.6(HEXA):c.906C>T (p.Ser302=) rs765612435 0.00002
NM_000521.4(HEXB):c.1083-14A>C rs776536464 0.00002
NM_000521.4(HEXB):c.1418-5T>C rs773772578 0.00002
NM_000521.4(HEXB):c.174C>T (p.Pro58=) rs769964813 0.00002
NM_000521.4(HEXB):c.354C>T (p.Phe118=) rs755175110 0.00002
NC_000015.10:g.72353186G>A rs1437923865 0.00001
NM_000405.5(GM2A):c.195C>T (p.Thr65=) rs768523926 0.00001
NM_000405.5(GM2A):c.24C>T (p.Pro8=) rs752323907 0.00001
NM_000405.5(GM2A):c.39G>A (p.Leu13=) rs374161170 0.00001
NM_000405.5(GM2A):c.495C>T (p.Thr165=) rs759623712 0.00001
NM_000405.5(GM2A):c.522G>C (p.Leu174=) rs778176491 0.00001
NM_000405.5(GM2A):c.82-8G>C rs376211344 0.00001
NM_000520.6(HEXA):c.1032C>T (p.Phe344=) rs762704131 0.00001
NM_000520.6(HEXA):c.1047G>A (p.Lys349=) rs746518979 0.00001
NM_000520.6(HEXA):c.1073+8A>T rs2088641552 0.00001
NM_000520.6(HEXA):c.1086C>T (p.Ile362=) rs749828204 0.00001
NM_000520.6(HEXA):c.1092T>C (p.Ser364=) rs757519934 0.00001
NM_000520.6(HEXA):c.1116G>A (p.Val372=) rs753609749 0.00001
NM_000520.6(HEXA):c.1146+16G>A rs1297838415 0.00001
NM_000520.6(HEXA):c.1173G>A (p.Val391=) rs575836910 0.00001
NM_000520.6(HEXA):c.1254C>T (p.Ala418=) rs1248988558 0.00001
NM_000520.6(HEXA):c.1359T>C (p.Ile453=) rs113941121 0.00001
NM_000520.6(HEXA):c.1421+13G>A rs375201437 0.00001
NM_000520.6(HEXA):c.1422-7C>T rs1204984002 0.00001
NM_000520.6(HEXA):c.1434G>C (p.Gly478=) rs1343812879 0.00001
NM_000520.6(HEXA):c.1477C>T (p.Leu493=) rs774313739 0.00001
NM_000520.6(HEXA):c.1526+12G>A rs370449921 0.00001
NM_000520.6(HEXA):c.1527-10C>G rs775281927 0.00001
NM_000520.6(HEXA):c.1545A>G (p.Gln515=) rs369398952 0.00001
NM_000520.6(HEXA):c.1548C>T (p.Pro516=) rs1322003883 0.00001
NM_000520.6(HEXA):c.168C>T (p.Pro56=) rs777515618 0.00001
NM_000520.6(HEXA):c.204T>C (p.Tyr68=) rs2089056122 0.00001
NM_000520.6(HEXA):c.210C>T (p.Asp70=) rs1377654671 0.00001
NM_000520.6(HEXA):c.237C>T (p.Pro79=) rs763428989 0.00001
NM_000520.6(HEXA):c.291C>T (p.Val97=) rs776967919 0.00001
NM_000520.6(HEXA):c.303A>G (p.Thr101=) rs970894400 0.00001
NM_000520.6(HEXA):c.357C>T (p.Thr119=) rs1242269336 0.00001
NM_000520.6(HEXA):c.393T>G (p.Thr131=) rs763015329 0.00001
NM_000520.6(HEXA):c.412+13G>A rs1391540037 0.00001
NM_000520.6(HEXA):c.413-19C>T rs2088734265 0.00001
NM_000520.6(HEXA):c.413-4C>T rs373382175 0.00001
NM_000520.6(HEXA):c.48C>T (p.Phe16=) rs772706192 0.00001
NM_000520.6(HEXA):c.571-16G>A rs771550714 0.00001
NM_000520.6(HEXA):c.571-19T>G rs576601675 0.00001
NM_000520.6(HEXA):c.597C>T (p.Asn199=) rs756010672 0.00001
NM_000520.6(HEXA):c.621T>C (p.Asp207=) rs763649208 0.00001
NM_000520.6(HEXA):c.636A>G (p.Pro212=) rs774842392 0.00001
NM_000520.6(HEXA):c.672+10C>T rs2088689193 0.00001
NM_000520.6(HEXA):c.672+11G>A rs1196402639 0.00001
NM_000520.6(HEXA):c.6A>G (p.Thr2=) rs1372094460 0.00001
NM_000520.6(HEXA):c.705A>G (p.Thr235=) rs781164103 0.00001
NM_000520.6(HEXA):c.735C>T (p.Tyr245=) rs777460475 0.00001
NM_000520.6(HEXA):c.741G>A (p.Arg247=) rs76873846 0.00001
NM_000520.6(HEXA):c.795C>T (p.Ser265=) rs746942625 0.00001
NM_000520.6(HEXA):c.867A>G (p.Pro289=) rs1420729942 0.00001
NM_000520.6(HEXA):c.876C>T (p.Pro292=) rs143009489 0.00001
NM_000520.6(HEXA):c.957T>C (p.Leu319=) rs373799508 0.00001
NM_000520.6(HEXA):c.987-14C>T rs766562662 0.00001
NM_000520.6(HEXA):c.987-15T>C rs754219266 0.00001
NM_000520.6(HEXA):c.987-18T>G rs374977824 0.00001
NM_000520.6(HEXA):c.987-8G>C rs760923149 0.00001
NM_000521.4(HEXB):c.1041A>G (p.Gln347=) rs755091383 0.00001
NM_000521.4(HEXB):c.1242+17C>A rs1223566396 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.138G>T (p.Pro46=) rs1378693652 0.00001
NM_000521.4(HEXB):c.1482T>C (p.Asp494=) rs1241194558 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.1614-10T>C rs1579958155 0.00001
NM_000521.4(HEXB):c.1614-4A>G rs1182075193 0.00001
NM_000521.4(HEXB):c.1650T>C (p.Tyr550=) rs1315099188 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.33G>T (p.Pro11=) rs1207274571 0.00001
NM_000521.4(HEXB):c.36C>T (p.Pro12=) rs1311449316 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.525T>C (p.Phe175=) rs766197541 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.855C>A (p.Val285=) rs781190762 0.00001
NM_000521.4(HEXB):c.873C>T (p.Thr291=) rs778593630 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
NC_000015.10:g.72353747T>C rs1361722304
NM_000405.5(GM2A):c.192G>A (p.Val64=)
NM_000405.5(GM2A):c.204_205inv (p.Met69Val)
NM_000405.5(GM2A):c.243+10G>A
NM_000405.5(GM2A):c.243+9G>A
NM_000405.5(GM2A):c.244-15A>T
NM_000405.5(GM2A):c.244-6T>C rs2127240577
NM_000405.5(GM2A):c.261G>A (p.Glu87=)
NM_000405.5(GM2A):c.27C>T (p.Leu9=)
NM_000405.5(GM2A):c.315C>T (p.Ser105=)
NM_000405.5(GM2A):c.342G>C (p.Val114=)
NM_000405.5(GM2A):c.352T>C (p.Leu118=)
NM_000405.5(GM2A):c.36C>T (p.Ala12=)
NM_000405.5(GM2A):c.381G>A (p.Glu127=)
NM_000405.5(GM2A):c.426+11A>T
NM_000405.5(GM2A):c.427-12G>A
NM_000405.5(GM2A):c.427-4G>T
NM_000405.5(GM2A):c.427-6C>T
NM_000405.5(GM2A):c.427-7C>T
NM_000405.5(GM2A):c.429A>T (p.Gly143=)
NM_000405.5(GM2A):c.469C>T (p.Leu157=)
NM_000405.5(GM2A):c.492C>G (p.Thr164=)
NM_000405.5(GM2A):c.558C>T (p.Ile186=)
NM_000405.5(GM2A):c.570A>G (p.Leu190=)
NM_000405.5(GM2A):c.579A>C (p.Ile193=)
NM_000405.5(GM2A):c.57C>G (p.Ala19=)
NM_000405.5(GM2A):c.69C>G (p.Ala23=)
NM_000405.5(GM2A):c.82-17T>C
NM_000405.5(GM2A):c.82-18C>T
NM_000405.5(GM2A):c.84A>G (p.Pro28=)
NM_000520.6(HEXA):c.1023G>A (p.Lys341=)
NM_000520.6(HEXA):c.1026A>G (p.Lys342=) rs1595798386
NM_000520.6(HEXA):c.1050G>A (p.Gln350=)
NM_000520.6(HEXA):c.1059C>T (p.Ser353=) rs1264309804
NM_000520.6(HEXA):c.1065C>T (p.Tyr355=) rs2140322139
NM_000520.6(HEXA):c.1073+10G>A rs1458405375
NM_000520.6(HEXA):c.1073+17G>A rs1277432109
NM_000520.6(HEXA):c.1074-12TCTCC[3] rs759219683
NM_000520.6(HEXA):c.1074-13C>A
NM_000520.6(HEXA):c.1074-16C>A
NM_000520.6(HEXA):c.1074-16C>T
NM_000520.6(HEXA):c.1074-17A>G
NM_000520.6(HEXA):c.1074-19A>G
NM_000520.6(HEXA):c.1074-20G>A
NM_000520.6(HEXA):c.1074-7T>C rs2140321912
NM_000520.6(HEXA):c.1074-8C>T rs2140321914
NM_000520.6(HEXA):c.1077G>A (p.Leu359=)
NM_000520.6(HEXA):c.1080G>A (p.Leu360=) rs1344084494
NM_000520.6(HEXA):c.1086C>A (p.Ile362=) rs749828204
NM_000520.6(HEXA):c.1095T>A (p.Ser365=)
NM_000520.6(HEXA):c.1098T>C (p.Tyr366=) rs979690054
NM_000520.6(HEXA):c.1101C>G (p.Gly367=)
NM_000520.6(HEXA):c.1110T>C (p.Tyr370=) rs2140321848
NM_000520.6(HEXA):c.1122G>A (p.Gln374=)
NM_000520.6(HEXA):c.1137T>C (p.Asn379=) rs2140321800
NM_000520.6(HEXA):c.1143A>G (p.Val381=) rs781712951
NM_000520.6(HEXA):c.1146+11G>A
NM_000520.6(HEXA):c.1146+17A>G rs2140321766
NM_000520.6(HEXA):c.1146+18A>G rs1555472543
NM_000520.6(HEXA):c.1146+7C>G
NM_000520.6(HEXA):c.1146+7C>T rs1445671872
NM_000520.6(HEXA):c.1146+8G>T
NM_000520.6(HEXA):c.1147-13C>T
NM_000520.6(HEXA):c.1147-14A>G
NM_000520.6(HEXA):c.1147-6T>C
NM_000520.6(HEXA):c.1147-7A>G rs1476782915
NM_000520.6(HEXA):c.1147-8T>G
NM_000520.6(HEXA):c.1147-9_1147-6del rs2140320865
NM_000520.6(HEXA):c.1161A>T (p.Thr387=) rs1244956386
NM_000520.6(HEXA):c.1164C>T (p.Ile388=)
NM_000520.6(HEXA):c.1170G>A (p.Gln390=)
NM_000520.6(HEXA):c.1173G>T (p.Val391=) rs575836910
NM_000520.6(HEXA):c.117T>G (p.Leu39=)
NM_000520.6(HEXA):c.1182G>A (p.Glu394=)
NM_000520.6(HEXA):c.1188T>A (p.Ile396=)
NM_000520.6(HEXA):c.1188T>C (p.Ile396=)
NM_000520.6(HEXA):c.1191A>G (p.Pro397=) rs2140320794
NM_000520.6(HEXA):c.1194G>C (p.Val398=) rs2140320785
NM_000520.6(HEXA):c.1194G>T (p.Val398=) rs2140320785
NM_000520.6(HEXA):c.1230C>A (p.Ala410=)
NM_000520.6(HEXA):c.1233C>G (p.Gly411=) rs2140320715
NM_000520.6(HEXA):c.1239G>A (p.Arg413=) rs2140320704
NM_000520.6(HEXA):c.1239G>T (p.Arg413=) rs2140320704
NM_000520.6(HEXA):c.123G>T (p.Pro41=) rs769075910
NM_000520.6(HEXA):c.1242C>T (p.Ala414=)
NM_000520.6(HEXA):c.1245T>C (p.Leu415=)
NM_000520.6(HEXA):c.1251T>G (p.Ser417=)
NM_000520.6(HEXA):c.1257C>T (p.Pro419=) rs1595797185
NM_000520.6(HEXA):c.1263C>T (p.Tyr421=) rs2140320674
NM_000520.6(HEXA):c.1272T>C (p.Arg424=) rs1020151571
NM_000520.6(HEXA):c.1278C>T (p.Ser426=)
NM_000520.6(HEXA):c.1287T>C (p.Pro429=) rs1159406854
NM_000520.6(HEXA):c.1296G>A (p.Lys432=)
NM_000520.6(HEXA):c.12C>T (p.Ser4=) rs774967373
NM_000520.6(HEXA):c.1305_1306inv (p.Ile436Val)
NM_000520.6(HEXA):c.1311G>A (p.Val437=) rs2140320599
NM_000520.6(HEXA):c.1317C>G (p.Pro439=) rs1003506073
NM_000520.6(HEXA):c.1317C>T (p.Pro439=) rs1003506073
NM_000520.6(HEXA):c.1330+12G>C
NM_000520.6(HEXA):c.1330+15C>T
NM_000520.6(HEXA):c.1330+19C>T
NM_000520.6(HEXA):c.1330+20C>T
NM_000520.6(HEXA):c.1331-13T>C
NM_000520.6(HEXA):c.1331-16G>T
NM_000520.6(HEXA):c.1331-18T>C
NM_000520.6(HEXA):c.1331-19G>C
NM_000520.6(HEXA):c.1331-19G>T
NM_000520.6(HEXA):c.1331-4T>C
NM_000520.6(HEXA):c.1331-5C>G
NM_000520.6(HEXA):c.1331-5C>T
NM_000520.6(HEXA):c.1331-7C>G
NM_000520.6(HEXA):c.1331-7C>T
NM_000520.6(HEXA):c.1335C>A (p.Thr445=)
NM_000520.6(HEXA):c.1335C>T (p.Thr445=) rs1365983427
NM_000520.6(HEXA):c.1338T>A (p.Pro446=) rs34085965
NM_000520.6(HEXA):c.1344G>A (p.Gln448=) rs2140320361
NM_000520.6(HEXA):c.1347G>A (p.Lys449=)
NM_000520.6(HEXA):c.1356G>A (p.Val452=)
NM_000520.6(HEXA):c.135A>G (p.Gln45=)
NM_000520.6(HEXA):c.1362T>C (p.Gly454=)
NM_000520.6(HEXA):c.1368G>A (p.Glu456=) rs2140320322
NM_000520.6(HEXA):c.1371T>A (p.Ala457=) rs2140320317
NM_000520.6(HEXA):c.1371T>G (p.Ala457=)
NM_000520.6(HEXA):c.1374T>C (p.Cys458=) rs764396757
NM_000520.6(HEXA):c.1383A>G (p.Gly461=)
NM_000520.6(HEXA):c.1389T>C (p.Tyr463=) rs1239101618
NM_000520.6(HEXA):c.13A>C (p.Arg5=) rs1595816387
NM_000520.6(HEXA):c.1405C>T (p.Leu469=) rs777731446
NM_000520.6(HEXA):c.1407G>C (p.Leu469=)
NM_000520.6(HEXA):c.1407G>T (p.Leu469=) rs2140320253
NM_000520.6(HEXA):c.1410C>G (p.Val470=) rs771951380
NM_000520.6(HEXA):c.1414A>C (p.Arg472=)
NM_000520.6(HEXA):c.1416G>A (p.Arg472=) rs369117208
NM_000520.6(HEXA):c.1421+12C>G
NM_000520.6(HEXA):c.1421+13G>C rs375201437
NM_000520.6(HEXA):c.1421+14G>A rs201497629
NM_000520.6(HEXA):c.1421+14G>T rs201497629
NM_000520.6(HEXA):c.1421+15G>A rs185764548
NM_000520.6(HEXA):c.1421+15G>T rs185764548
NM_000520.6(HEXA):c.1421+16G>C
NM_000520.6(HEXA):c.1421+19G>A
NM_000520.6(HEXA):c.1421+19G>C
NM_000520.6(HEXA):c.1421+19G>T
NM_000520.6(HEXA):c.1421+7G>T
NM_000520.6(HEXA):c.1421+7del rs747378954
NM_000520.6(HEXA):c.1421+9T>C rs2140320220
NM_000520.6(HEXA):c.1422-13C>T rs1366173591
NM_000520.6(HEXA):c.1422-14C>T
NM_000520.6(HEXA):c.1422-18A>G
NM_000520.6(HEXA):c.1422-6C>T
NM_000520.6(HEXA):c.1422-8T>C rs2140319698
NM_000520.6(HEXA):c.1422-9T>A rs2140319704
NM_000520.6(HEXA):c.1425C>T (p.Pro475=) rs2140319679
NM_000520.6(HEXA):c.1431A>G (p.Ala477=) rs2140319674
NM_000520.6(HEXA):c.1437T>C (p.Ala479=) rs2140319660
NM_000520.6(HEXA):c.144C>T (p.Tyr48=) rs2140344619
NM_000520.6(HEXA):c.1452G>A (p.Leu484=)
NM_000520.6(HEXA):c.1467G>A (p.Leu489=)
NM_000520.6(HEXA):c.1470A>G (p.Thr490=)
NM_000520.6(HEXA):c.1473T>G (p.Ser491=)
NM_000520.6(HEXA):c.147T>C (p.Asp49=)
NM_000520.6(HEXA):c.1521G>A (p.Leu507=)
NM_000520.6(HEXA):c.1524G>A (p.Leu508=) rs2140319542
NM_000520.6(HEXA):c.1526+13T>C rs1406864261
NM_000520.6(HEXA):c.1526+14G>A
NM_000520.6(HEXA):c.1526+20T>G
NM_000520.6(HEXA):c.1526+7_1526+10del rs1165016914
NM_000520.6(HEXA):c.1527-10C>T
NM_000520.6(HEXA):c.1527-17T>A
NM_000520.6(HEXA):c.1527-18C>T
NM_000520.6(HEXA):c.1527-4G>A
NM_000520.6(HEXA):c.1527-4G>C
NM_000520.6(HEXA):c.1527-7C>T rs2088581612
NM_000520.6(HEXA):c.1533T>C (p.Gly511=) rs761249905
NM_000520.6(HEXA):c.1533T>G (p.Gly511=)
NM_000520.6(HEXA):c.1536C>G (p.Val512=)
NM_000520.6(HEXA):c.1554T>C (p.Asn518=) rs749609063
NM_000520.6(HEXA):c.1563C>T (p.Phe521=)
NM_000520.6(HEXA):c.156G>C (p.Ser52=)
NM_000520.6(HEXA):c.1578T>C (p.Phe526=) rs2140318501
NM_000520.6(HEXA):c.1587C>T (p.Thr529=)
NM_000520.6(HEXA):c.159C>G (p.Ala53=)
NM_000520.6(HEXA):c.159C>T (p.Ala53=) rs2140344589
NM_000520.6(HEXA):c.162G>T (p.Ala54=)
NM_000520.6(HEXA):c.165G>A (p.Gln55=)
NM_000520.6(HEXA):c.183C>G (p.Leu61=) rs2089056934
NM_000520.6(HEXA):c.183C>T (p.Leu61=) rs2089056934
NM_000520.6(HEXA):c.186C>T (p.Asp62=) rs765001944
NM_000520.6(HEXA):c.189G>A (p.Glu63=) rs1401078087
NM_000520.6(HEXA):c.195C>T (p.Phe65=)
NM_000520.6(HEXA):c.198G>A (p.Gln66=)
NM_000520.6(HEXA):c.211C>T (p.Leu71=)
NM_000520.6(HEXA):c.213G>C (p.Leu71=) rs2140344454
NM_000520.6(HEXA):c.219C>T (p.Phe73=) rs2089055709
NM_000520.6(HEXA):c.222T>G (p.Gly74=)
NM_000520.6(HEXA):c.225C>G (p.Ser75=)
NM_000520.6(HEXA):c.228G>C (p.Gly76=)
NM_000520.6(HEXA):c.228G>T (p.Gly76=)
NM_000520.6(HEXA):c.249C>T (p.Leu83=) rs1416793758
NM_000520.6(HEXA):c.253+1100_253+1948del
NM_000520.6(HEXA):c.253+14G>A
NM_000520.6(HEXA):c.253+18C>T
NM_000520.6(HEXA):c.253+19G>A
NM_000520.6(HEXA):c.253+19G>C rs370680843
NM_000520.6(HEXA):c.253+20C>A
NM_000520.6(HEXA):c.253+7C>G
NM_000520.6(HEXA):c.253+7C>T rs996974364
NM_000520.6(HEXA):c.253+8G>C
NM_000520.6(HEXA):c.253+9G>C rs2089054710
NM_000520.6(HEXA):c.254-10G>A
NM_000520.6(HEXA):c.254-10G>T
NM_000520.6(HEXA):c.254-12C>G
NM_000520.6(HEXA):c.254-12C>T
NM_000520.6(HEXA):c.254-14C>A
NM_000520.6(HEXA):c.254-15A>T
NM_000520.6(HEXA):c.254-17T>C rs2140329132
NM_000520.6(HEXA):c.254-20A>G
NM_000520.6(HEXA):c.259C>A (p.Arg87=) rs573269641
NM_000520.6(HEXA):c.261G>A (p.Arg87=) rs1298623340
NM_000520.6(HEXA):c.267A>G (p.Thr89=)
NM_000520.6(HEXA):c.268C>T (p.Leu90=) rs2140329094
NM_000520.6(HEXA):c.270G>C (p.Leu90=)
NM_000520.6(HEXA):c.273G>A (p.Glu91=) rs2140329075
NM_000520.6(HEXA):c.27G>T (p.Ser9=)
NM_000520.6(HEXA):c.282G>A (p.Val94=)
NM_000520.6(HEXA):c.294T>C (p.Ser98=)
NM_000520.6(HEXA):c.300C>G (p.Val100=) rs2140329021
NM_000520.6(HEXA):c.306T>C (p.Pro102=)
NM_000520.6(HEXA):c.309A>T (p.Gly103=) rs1595804037
NM_000520.6(HEXA):c.312T>C (p.Cys104=) rs760781092
NM_000520.6(HEXA):c.31C>T (p.Leu11=)
NM_000520.6(HEXA):c.336A>G (p.Ser112=)
NM_000520.6(HEXA):c.336A>T (p.Ser112=)
NM_000520.6(HEXA):c.33G>A (p.Leu11=) rs2140344852
NM_000520.6(HEXA):c.346+10A>G rs2140328935
NM_000520.6(HEXA):c.346+18C>T
NM_000520.6(HEXA):c.346+8C>T
NM_000520.6(HEXA):c.347-12_347-11del rs2088766986
NM_000520.6(HEXA):c.347-17C>A
NM_000520.6(HEXA):c.347-17C>T rs761054655
NM_000520.6(HEXA):c.347-20G>A rs1055316951
NM_000520.6(HEXA):c.347-7A>G rs1567300313
NM_000520.6(HEXA):c.351C>G (p.Thr117=)
NM_000520.6(HEXA):c.366T>C (p.Asp122=) rs1302430521
NM_000520.6(HEXA):c.36G>A (p.Leu12=)
NM_000520.6(HEXA):c.381C>A (p.Leu127=) rs1595803351
NM_000520.6(HEXA):c.381C>T (p.Leu127=) rs1595803351
NM_000520.6(HEXA):c.390G>A (p.Glu130=) rs2140328190
NM_000520.6(HEXA):c.405T>C (p.Ala135=) rs2140328173
NM_000520.6(HEXA):c.408C>T (p.Leu136=) rs2088765442
NM_000520.6(HEXA):c.412+10T>C rs2140328149
NM_000520.6(HEXA):c.412+12G>A
NM_000520.6(HEXA):c.412+14G>T
NM_000520.6(HEXA):c.412+16T>A
NM_000520.6(HEXA):c.412+17G>C
NM_000520.6(HEXA):c.412+18A>T
NM_000520.6(HEXA):c.412+7A>G rs2088764993
NM_000520.6(HEXA):c.412+9T>C
NM_000520.6(HEXA):c.413-12A>G
NM_000520.6(HEXA):c.413-14C>G rs2140326832
NM_000520.6(HEXA):c.413-16C>T
NM_000520.6(HEXA):c.413-18C>T
NM_000520.6(HEXA):c.413-20G>T
NM_000520.6(HEXA):c.413-4C>G rs373382175
NM_000520.6(HEXA):c.414T>C (p.Gly138=) rs1361295729
NM_000520.6(HEXA):c.417G>A (p.Leu139=) rs1567299634
NM_000520.6(HEXA):c.42A>G (p.Ala14=) rs2089060994
NM_000520.6(HEXA):c.438T>G (p.Val146=) rs2140326788
NM_000520.6(HEXA):c.450T>C (p.Ala150=) rs1195208193
NM_000520.6(HEXA):c.450T>G (p.Ala150=)
NM_000520.6(HEXA):c.459+13_459+14del
NM_000520.6(HEXA):c.459+19A>C
NM_000520.6(HEXA):c.459+9G>T
NM_000520.6(HEXA):c.460-10T>C
NM_000520.6(HEXA):c.460-11G>A
NM_000520.6(HEXA):c.460-15G>A rs2140326434
NM_000520.6(HEXA):c.460-17A>T
NM_000520.6(HEXA):c.460-18A>G
NM_000520.6(HEXA):c.460-19C>T rs1680245631
NM_000520.6(HEXA):c.492T>C (p.Phe164=) rs2088724431
NM_000520.6(HEXA):c.495C>T (p.Pro165=)
NM_000520.6(HEXA):c.498C>T (p.Arg166=)
NM_000520.6(HEXA):c.501T>C (p.Phe167=)
NM_000520.6(HEXA):c.510G>A (p.Arg170=) rs760406474
NM_000520.6(HEXA):c.516G>A (p.Leu172=) rs1567299356
NM_000520.6(HEXA):c.519G>A (p.Leu173=)
NM_000520.6(HEXA):c.519G>C (p.Leu173=) rs771696420
NM_000520.6(HEXA):c.51A>C (p.Ala17=) rs2140344816
NM_000520.6(HEXA):c.528A>C (p.Thr176=) rs1458388844
NM_000520.6(HEXA):c.528A>G (p.Thr176=)
NM_000520.6(HEXA):c.540C>T (p.Tyr180=)
NM_000520.6(HEXA):c.541C>T (p.Leu181=)
NM_000520.6(HEXA):c.54A>G (p.Gly18=)
NM_000520.6(HEXA):c.552T>C (p.Ser184=) rs1387980987
NM_000520.6(HEXA):c.555C>T (p.Ser185=)
NM_000520.6(HEXA):c.558C>T (p.Ile186=) rs144652159
NM_000520.6(HEXA):c.559C>T (p.Leu187=) rs1390872805
NM_000520.6(HEXA):c.564C>T (p.Asp188=)
NM_000520.6(HEXA):c.567T>C (p.Thr189=)
NM_000520.6(HEXA):c.570+10C>A rs1453635996
NM_000520.6(HEXA):c.570+10C>G rs1453635996
NM_000520.6(HEXA):c.570+10C>T
NM_000520.6(HEXA):c.570+11C>T
NM_000520.6(HEXA):c.570+16G>A
NM_000520.6(HEXA):c.570+19C>G
NM_000520.6(HEXA):c.570+7A>C
NM_000520.6(HEXA):c.570+9G>C rs2088721599
NM_000520.6(HEXA):c.571-13C>A
NM_000520.6(HEXA):c.571-15C>A rs2140324790
NM_000520.6(HEXA):c.571-16G>T
NM_000520.6(HEXA):c.571-19T>C
NM_000520.6(HEXA):c.571-4A>G rs2140324768
NM_000520.6(HEXA):c.571-6C>T
NM_000520.6(HEXA):c.571-7C>T
NM_000520.6(HEXA):c.571-8A>C rs2140324777
NM_000520.6(HEXA):c.576C>T (p.Val192=)
NM_000520.6(HEXA):c.57G>C (p.Arg19=)
NM_000520.6(HEXA):c.582G>C (p.Ala194=) rs112614306
NM_000520.6(HEXA):c.603C>T (p.Phe201=) rs767318868
NM_000520.6(HEXA):c.606C>T (p.His202=) rs2140324709
NM_000520.6(HEXA):c.60G>T (p.Ala20=)
NM_000520.6(HEXA):c.627T>G (p.Pro209=)
NM_000520.6(HEXA):c.633C>T (p.Phe211=) rs2140324675
NM_000520.6(HEXA):c.63G>A (p.Thr21=)
NM_000520.6(HEXA):c.63G>T (p.Thr21=)
NM_000520.6(HEXA):c.651T>G (p.Thr217=) rs773807075
NM_000520.6(HEXA):c.660G>A (p.Glu220=) rs2140324649
NM_000520.6(HEXA):c.663C>G (p.Leu221=)
NM_000520.6(HEXA):c.66C>T (p.Ala22=) rs990896217
NM_000520.6(HEXA):c.672+11G>T
NM_000520.6(HEXA):c.672+14T>A
NM_000520.6(HEXA):c.672+8C>T
NM_000520.6(HEXA):c.672+9C>G rs2140324618
NM_000520.6(HEXA):c.673-11G>A
NM_000520.6(HEXA):c.673-11G>C
NM_000520.6(HEXA):c.673-16G>C
NM_000520.6(HEXA):c.673-4T>C rs1171895864
NM_000520.6(HEXA):c.673-60_673-17del rs1183071056
NM_000520.6(HEXA):c.673-7C>T
NM_000520.6(HEXA):c.675G>T (p.Gly225=)
NM_000520.6(HEXA):c.678C>A (p.Ser226=) rs2140324260
NM_000520.6(HEXA):c.684C>T (p.Asn228=) rs2140324256
NM_000520.6(HEXA):c.69C>A (p.Leu23=)
NM_000520.6(HEXA):c.69C>T (p.Leu23=) rs143554538
NM_000520.6(HEXA):c.702C>T (p.Tyr234=)
NM_000520.6(HEXA):c.720G>A (p.Lys240=)
NM_000520.6(HEXA):c.723G>A (p.Glu241=) rs1435809210
NM_000520.6(HEXA):c.738A>C (p.Ala246=) rs2140324194
NM_000520.6(HEXA):c.744C>T (p.Leu248=)
NM_000520.6(HEXA):c.747G>C (p.Arg249=)
NM_000520.6(HEXA):c.750T>C (p.Gly250=) rs2088681348
NM_000520.6(HEXA):c.753C>T (p.Ile251=)
NM_000520.6(HEXA):c.75C>G (p.Pro25=) rs2089060038
NM_000520.6(HEXA):c.75C>T (p.Pro25=) rs2089060038
NM_000520.6(HEXA):c.762T>C (p.Leu254=) rs1595800026
NM_000520.6(HEXA):c.765A>G (p.Ala255=)
NM_000520.6(HEXA):c.768G>A (p.Glu256=) rs1218888083
NM_000520.6(HEXA):c.792G>A (p.Leu264=) rs2140324097
NM_000520.6(HEXA):c.805+10A>T rs2140324073
NM_000520.6(HEXA):c.805+12G>T
NM_000520.6(HEXA):c.805+14C>T
NM_000520.6(HEXA):c.805+8T>C rs2140324076
NM_000520.6(HEXA):c.805+9G>C
NM_000520.6(HEXA):c.806-10C>A rs2140323098
NM_000520.6(HEXA):c.806-11T>C
NM_000520.6(HEXA):c.806-19G>A
NM_000520.6(HEXA):c.806-8T>C rs2140323096
NM_000520.6(HEXA):c.810C>A (p.Ile270=)
NM_000520.6(HEXA):c.810C>T (p.Ile270=) rs2140323086
NM_000520.6(HEXA):c.813T>G (p.Pro271=)
NM_000520.6(HEXA):c.820C>T (p.Leu274=)
NM_000520.6(HEXA):c.828T>G (p.Pro276=)
NM_000520.6(HEXA):c.831C>T (p.Cys277=)
NM_000520.6(HEXA):c.843T>C (p.Ser281=) rs2140323055
NM_000520.6(HEXA):c.846G>A (p.Glu282=) rs1362329720
NM_000520.6(HEXA):c.849C>A (p.Pro283=)
NM_000520.6(HEXA):c.849C>G (p.Pro283=) rs2140323045
NM_000520.6(HEXA):c.849C>T (p.Pro283=) rs2140323045
NM_000520.6(HEXA):c.858C>T (p.Thr286=) rs748958444
NM_000520.6(HEXA):c.861T>C (p.Phe287=)
NM_000520.6(HEXA):c.900C>T (p.Phe300=)
NM_000520.6(HEXA):c.909A>G (p.Thr303=)
NM_000520.6(HEXA):c.909A>T (p.Thr303=) rs2088661576
NM_000520.6(HEXA):c.912C>T (p.Phe304=) rs1385655581
NM_000520.6(HEXA):c.921A>G (p.Glu307=) rs1457483877
NM_000520.6(HEXA):c.924C>T (p.Val308=) rs2140322950
NM_000520.6(HEXA):c.930T>C (p.Ser310=)
NM_000520.6(HEXA):c.933C>T (p.Val311=) rs2088661117
NM_000520.6(HEXA):c.936C>T (p.Phe312=)
NM_000520.6(HEXA):c.939A>G (p.Pro313=)
NM_000520.6(HEXA):c.969G>A (p.Glu323=)
NM_000520.6(HEXA):c.96C>G (p.Thr32=)
NM_000520.6(HEXA):c.96C>T (p.Thr32=) rs2140344723
NM_000520.6(HEXA):c.984C>T (p.Cys328=)
NM_000520.6(HEXA):c.986+10C>A
NM_000520.6(HEXA):c.986+12T>C
NM_000520.6(HEXA):c.986+20C>A
NM_000520.6(HEXA):c.986+7G>C
NM_000520.6(HEXA):c.986+8C>T rs2140322848
NM_000520.6(HEXA):c.986+9C>A
NM_000520.6(HEXA):c.987-12C>T
NM_000520.6(HEXA):c.987-19A>T
NM_000520.6(HEXA):c.99C>A (p.Ser33=) rs2140344713
NM_000520.6(HEXA):c.99C>T (p.Ser33=)
NM_000521.4(HEXB):c.1005A>G (p.Thr335=)
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.1050T>C (p.His350=)
NM_000521.4(HEXB):c.1062T>C (p.Asp354=) rs1749653155
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+7T>A rs1249872768
NM_000521.4(HEXB):c.1082+7T>C
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.1101T>C (p.Ile367=) rs1749677760
NM_000521.4(HEXB):c.1107T>C (p.Asp369=)
NM_000521.4(HEXB):c.1125C>T (p.Gly375=)
NM_000521.4(HEXB):c.1134A>G (p.Thr378=)
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.1158C>T (p.Phe386=)
NM_000521.4(HEXB):c.1161C>T (p.Tyr387=) rs2112177152
NM_000521.4(HEXB):c.1169+18C>T
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.1170-12T>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.1191C>T (p.Thr397=)
NM_000521.4(HEXB):c.120G>A (p.Ala40=)
NM_000521.4(HEXB):c.1242+10G>A
NM_000521.4(HEXB):c.1242+18T>C
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>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.1263T>G (p.Val421=) rs1454392093
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.1284A>G (p.Ala428=)
NM_000521.4(HEXB):c.1296A>G (p.Glu432=) rs1456292951
NM_000521.4(HEXB):c.12C>T (p.Cys4=) rs2112122203
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.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>T (p.Ser455=)
NM_000521.4(HEXB):c.1377T>C (p.Asp459=)
NM_000521.4(HEXB):c.138G>A (p.Pro46=) rs1378693652
NM_000521.4(HEXB):c.1398G>A (p.Val466=)
NM_000521.4(HEXB):c.1417+14T>C
NM_000521.4(HEXB):c.1417+19C>T
NM_000521.4(HEXB):c.1417+9A>G rs755763718
NM_000521.4(HEXB):c.1418-11T>C
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.1437A>G (p.Gln479=) rs139129900
NM_000521.4(HEXB):c.1464A>G (p.Leu488=)
NM_000521.4(HEXB):c.1473A>G (p.Glu491=)
NM_000521.4(HEXB):c.1476T>C (p.Tyr492=)
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.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.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>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.1518A>C (p.Ala506=)
NM_000521.4(HEXB):c.1534A>C (p.Arg512=)
NM_000521.4(HEXB):c.1539C>T (p.Leu513=) rs1258974496
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.1569T>C (p.Asp523=)
NM_000521.4(HEXB):c.1575C>T (p.Ala525=)
NM_000521.4(HEXB):c.1581C>T (p.Asp527=)
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.1605G>A (p.Arg535=)
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) rs778119481
NM_000521.4(HEXB):c.1611C>T (p.Val537=)
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+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.1614-6C>T
NM_000521.4(HEXB):c.1614-7dup rs2112188857
NM_000521.4(HEXB):c.1614-8A>G rs745567727
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.1629A>G (p.Ala543=)
NM_000521.4(HEXB):c.1635T>G (p.Pro545=)
NM_000521.4(HEXB):c.1641T>C (p.Tyr547=) rs2112189098
NM_000521.4(HEXB):c.164C>T (p.Ala55Val)
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.181C>T (p.Leu61Phe)
NM_000521.4(HEXB):c.201G>A (p.Pro67=) rs371914695
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.231C>T (p.Phe77=)
NM_000521.4(HEXB):c.234C>T (p.Tyr78=)
NM_000521.4(HEXB):c.240C>T (p.Ser80=) rs2112123022
NM_000521.4(HEXB):c.255C>T (p.Ser85=)
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.276C>A (p.Thr92=) rs140509633
NM_000521.4(HEXB):c.282G>A (p.Leu94=)
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.300-18C>T
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.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.339T>C (p.His113=) rs1748944024
NM_000521.4(HEXB):c.345T>C (p.Pro115=) rs1467307393
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.408G>A (p.Glu136=)
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.441G>A (p.Glu147=)
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+7A>G rs2112129385
NM_000521.4(HEXB):c.445+8C>T
NM_000521.4(HEXB):c.446-12T>C
NM_000521.4(HEXB):c.446-21_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.450T>A (p.Thr150=) rs2112135859
NM_000521.4(HEXB):c.477C>T (p.Val159=)
NM_000521.4(HEXB):c.495T>C (p.Val165=)
NM_000521.4(HEXB):c.504A>C (p.Ala168=) rs993517054
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.512-12T>C
NM_000521.4(HEXB):c.512-18A>G
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.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.540T>C (p.Tyr180=)
NM_000521.4(HEXB):c.552T>C (p.Tyr184=) 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+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.559-4A>G rs1417706193
NM_000521.4(HEXB):c.55T>C (p.Leu19=) rs2112122357
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.582T>C (p.Ile194=) rs2112141535
NM_000521.4(HEXB):c.591T>C (p.Ser197=)
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.630C>T (p.Ser210=)
NM_000521.4(HEXB):c.63A>G (p.Thr21=)
NM_000521.4(HEXB):c.64C>T (p.Leu22=)
NM_000521.4(HEXB):c.651G>A (p.Lys217=)
NM_000521.4(HEXB):c.654T>A (p.Ile218=) rs1395527567
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.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.699T>C (p.Val233=)
NM_000521.4(HEXB):c.69G>A (p.Leu23=) rs1453045657
NM_000521.4(HEXB):c.705C>T (p.His235=) rs2112156345
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.735A>T (p.Pro245=) rs758398934
NM_000521.4(HEXB):c.759G>A (p.Glu253=)
NM_000521.4(HEXB):c.75G>A (p.Ala25=) rs1416490499
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+8A>C
NM_000521.4(HEXB):c.771+9A>G rs768648039
NM_000521.4(HEXB):c.772-12T>C
NM_000521.4(HEXB):c.772-5T>C rs2112171612
NM_000521.4(HEXB):c.772-8T>C rs540508015
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.810T>C (p.Asp270=)
NM_000521.4(HEXB):c.81G>A (p.Leu27=)
NM_000521.4(HEXB):c.822G>C (p.Val274=)
NM_000521.4(HEXB):c.828A>G (p.Glu276=)
NM_000521.4(HEXB):c.838T>C (p.Leu280=) rs1057518432
NM_000521.4(HEXB):c.843A>G (p.Arg281=) rs2112171867
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.879G>C (p.Gly293=) rs1208134816
NM_000521.4(HEXB):c.888A>C (p.Leu296=)
NM_000521.4(HEXB):c.901+11G>T
NM_000521.4(HEXB):c.901+7A>C
NM_000521.4(HEXB):c.901+8G>C
NM_000521.4(HEXB):c.902-15A>C
NM_000521.4(HEXB):c.90G>A (p.Leu30=)
NM_000521.4(HEXB):c.924A>C (p.Pro308=)
NM_000521.4(HEXB):c.924A>G (p.Pro308=) rs2112175034
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.972T>C (p.Pro324=) rs1749650159
NM_000521.4(HEXB):c.987A>G (p.Thr329=)
NM_000521.4(HEXB):c.993C>T (p.Ser331=) rs2112175174
NM_000521.4(HEXB):c.9G>T (p.Leu3=)

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