ClinVar Miner

List of variants in gene HEXA reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 472
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HGVS dbSNP gnomAD frequency
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) rs1800431 0.87890
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) rs4777502 0.87885
NM_000520.6(HEXA):c.*630A>G rs35949555 0.05706
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) rs1800430 0.03370
NM_000520.6(HEXA):c.9C>T (p.Ser3=) rs1800428 0.03048
NM_000520.6(HEXA):c.672+30T>G rs117160567 0.01494
NM_000520.6(HEXA):c.672+189C>A rs12908883 0.01466
NM_000520.5(HEXA):c.-167G>A rs77707876 0.01456
NM_000520.6(HEXA):c.1147-154G>A rs145247513 0.01012
NM_000520.6(HEXA):c.346+192T>C rs111559120 0.00666
NM_000520.6(HEXA):c.570+131A>G rs148388819 0.00642
NM_000520.5(HEXA):c.-59G>A rs147174351 0.00489
NM_000520.6(HEXA):c.673-13T>C rs75211071 0.00438
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_000520.6(HEXA):c.253+5074C>T rs149661366 0.00322
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_000520.6(HEXA):c.346+13C>T rs200871198 0.00173
NM_000520.6(HEXA):c.1146+8G>A rs201453018 0.00167
NM_000520.6(HEXA):c.254-33G>A rs186468379 0.00164
NM_000520.6(HEXA):c.69C>G (p.Leu23=) rs143554538 0.00107
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) rs140337137 0.00100
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_000520.6(HEXA):c.1074-100T>C rs868411141 0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) rs374524755 0.00031
NM_000520.6(HEXA):c.1338T>C (p.Pro446=) rs34085965 0.00029
NM_000520.6(HEXA):c.1073+41C>T rs367719010 0.00027
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) rs140482769 0.00019
NM_000520.6(HEXA):c.1421+14G>C rs201497629 0.00019
NM_000520.6(HEXA):c.517C>T (p.Leu173=) rs200743199 0.00017
NM_000520.6(HEXA):c.1073+51G>A rs545676277 0.00016
NM_000520.6(HEXA):c.582G>A (p.Ala194=) rs112614306 0.00016
NM_000520.6(HEXA):c.1443C>T (p.Ala481=) rs140091006 0.00015
NM_000520.6(HEXA):c.253+5107G>A rs748336538 0.00013
NM_000520.6(HEXA):c.548T>A (p.Leu183His) rs185797496 0.00011
NM_000520.6(HEXA):c.1330+16T>G rs371435283 0.00009
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) rs200936836 0.00009
NM_000520.6(HEXA):c.855C>T (p.Gly285=) rs768518776 0.00008
NM_000520.6(HEXA):c.102C>T (p.Asp34=) rs377310315 0.00007
NM_000520.6(HEXA):c.1146+9G>C rs371023342 0.00005
NM_000520.6(HEXA):c.888T>C (p.Asn296=) rs752260651 0.00005
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_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_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_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.1074-86G>A rs1050913691 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.460-8C>T rs1437923865 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_000520.6(HEXA):c.1023G>A (p.Lys341=)
NM_000520.6(HEXA):c.1026A>G (p.Lys342=) rs1595798386
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.1074-16C>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.1080G>A (p.Leu360=) rs1344084494
NM_000520.6(HEXA):c.1086C>A (p.Ile362=) rs749828204
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+351G>A rs60920713
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.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.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.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.1416G>A (p.Arg472=) rs369117208
NM_000520.6(HEXA):c.1421+11del rs922064515
NM_000520.6(HEXA):c.1421+12C>G
NM_000520.6(HEXA):c.1421+13G>C rs375201437
NM_000520.6(HEXA):c.1421+13dup rs780193130
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>C 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.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+325dup rs528390276
NM_000520.6(HEXA):c.1526+7_1526+10del rs1165016914
NM_000520.6(HEXA):c.1527-10C>T
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>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.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.254-15A>T
NM_000520.6(HEXA):c.254-17T>C rs2140329132
NM_000520.6(HEXA):c.254-20A>G
NM_000520.6(HEXA):c.254-23C>T
NM_000520.6(HEXA):c.254-252G>C rs3784586
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+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.413-10A>G rs1361722304
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.413-4C>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.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.531T>A (p.Ser177=) rs747703708
NM_000520.6(HEXA):c.539A>C (p.Tyr180Ser) rs200513831
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.570+10C>A rs1453635996
NM_000520.6(HEXA):c.570+10C>G rs1453635996
NM_000520.6(HEXA):c.570+11C>T
NM_000520.6(HEXA):c.570+16G>A
NM_000520.6(HEXA):c.570+7A>C
NM_000520.6(HEXA):c.570+9G>C rs2088721599
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>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+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>T (p.Ser33=)

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