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NC_000015.10:g.(?_72345446)_(72346710_?)del
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NM_000520.4:c.1499delT
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NM_000520.5(HEXA):c.-207-2357_253+5128delinsG
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NM_000520.5(HEXA):c.1043_1046del (p.Phe348Cysfs)
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rs1057516755 |
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NM_000520.5(HEXA):c.1073+1G>T
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rs76173977 |
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NM_000520.5(HEXA):c.1123del (p.Glu375Argfs)
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rs766138785 |
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NM_000520.5(HEXA):c.1140del (p.Val381Terfs)
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rs1555472553 |
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NM_000520.5(HEXA):c.1150C>T (p.Gln384Ter)
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rs1057516617 |
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NM_000520.5(HEXA):c.1168C>T (p.Gln390Ter)
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rs988192535 |
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NM_000520.5(HEXA):c.1169_1171delAGGinsT (p.Gln390Leufs)
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rs1555472440 |
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NM_000520.5(HEXA):c.1214_1215delAAinsG (p.Glu405Glyfs)
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rs1555472432 |
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NM_000520.5(HEXA):c.1259G>A (p.Trp420Ter)
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rs1057519465 |
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NM_000520.5(HEXA):c.1305C>T (p.Tyr435=)
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rs587779406 |
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NM_000520.5(HEXA):c.1307_1308del (p.Ile436Serfs)
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rs777042785 |
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NM_000520.5(HEXA):c.1349del (p.Ala450Valfs)
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rs1057519466 |
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NM_000520.5(HEXA):c.1360G>C (p.Gly454Arg)
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rs121907978 |
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NM_000520.5(HEXA):c.139C>T (p.Gln47Ter)
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rs745996955 |
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NM_000520.5(HEXA):c.139_140delCAinsT (p.Gln47Cysfs)
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rs1555475498 |
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NM_000520.5(HEXA):c.1421+1G>T
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rs147324677 |
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NM_000520.5(HEXA):c.1421G>A (p.Trp474Ter)
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rs762374961 |
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NM_000520.5(HEXA):c.1422-1G>T
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rs1555472296 |
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NM_000520.5(HEXA):c.1444G>A (p.Glu482Lys)
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rs121907952 |
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NM_000520.5(HEXA):c.1495C>T (p.Arg499Cys)
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rs121907966 |
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NM_000520.5(HEXA):c.1502C>G (p.Ser501Ter)
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rs1555472270 |
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NM_000520.5(HEXA):c.1510C>T (p.Arg504Cys)
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rs28942071 |
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NM_000520.5(HEXA):c.1526+1G>T
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rs1309204908 |
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NM_000520.5(HEXA):c.1526+2T>C
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rs1555472262 |
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NM_000520.5(HEXA):c.1528C>T (p.Arg510Ter)
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rs786204585 |
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NM_000520.5(HEXA):c.1549dup (p.Leu517Profs)
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rs1555472161 |
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NM_000520.5(HEXA):c.183_193del (p.Asp62Profs)
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rs1057516640 |
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NM_000520.5(HEXA):c.187G>T (p.Glu63Ter)
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rs759092928 |
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NM_000520.5(HEXA):c.196C>T (p.Gln66Ter)
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rs1057516957 |
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NM_000520.5(HEXA):c.1A>C (p.Met1Leu)
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NM_000520.5(HEXA):c.20G>A (p.Trp7Ter)
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rs751546658 |
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NM_000520.5(HEXA):c.237_253+7del
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rs770628999 |
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NM_000520.5(HEXA):c.24_25del (p.Ser9Alafs)
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rs1057517348 |
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NM_000520.5(HEXA):c.253+1G>A
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rs770093080 |
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NM_000520.5(HEXA):c.26C>A (p.Ser9Ter)
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rs769370282 |
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NM_000520.5(HEXA):c.2T>C (p.Met1Thr)
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rs786204721 |
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NM_000520.5(HEXA):c.316C>T (p.Gln106Ter)
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rs773446161 |
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NM_000520.5(HEXA):c.346+1G>C
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rs797044432 |
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NM_000520.5(HEXA):c.346+1G>T
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rs797044432 |
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NM_000520.5(HEXA):c.436del (p.Val146Phefs)
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rs1057517174 |
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NM_000520.5(HEXA):c.459+2dup
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rs1555473138 |
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NM_000520.5(HEXA):c.460-1G>A
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rs764343937 |
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NM_000520.5(HEXA):c.465del (p.Phe155Leufs)
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rs1057516850 |
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NM_000520.5(HEXA):c.508C>T (p.Arg170Trp)
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rs121907972 |
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NM_000520.5(HEXA):c.509G>A (p.Arg170Gln)
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rs121907957 |
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NM_000520.5(HEXA):c.551_552del (p.Ser184Terfs)
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rs1555473070 |
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NM_000520.5(HEXA):c.570+1G>A
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rs786204754 |
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NM_000520.5(HEXA):c.60_61dup (p.Thr21Argfs)
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rs1057517296 |
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NM_000520.5(HEXA):c.616G>C (p.Val206Leu)
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rs543071358 |
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NM_000520.5(HEXA):c.637T>C (p.Tyr213His)
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rs1057519461 |
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NM_000520.5(HEXA):c.672+1G>A
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rs387906311 |
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NM_000520.5(HEXA):c.709C>T (p.Gln237Ter)
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rs150675340 |
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NM_000520.5(HEXA):c.72G>A (p.Trp24Ter)
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rs1555475519 |
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NM_000520.5(HEXA):c.754C>T (p.Arg252Cys)
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rs566580738 |
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NM_000520.5(HEXA):c.788C>T (p.Thr263Ile)
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rs1057519462 |
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NM_000520.5(HEXA):c.805+1G>A
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rs121907980 |
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NM_000520.5(HEXA):c.806-1G>C
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rs1057516908 |
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NM_000520.5(HEXA):c.82C>T (p.Gln28Ter)
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rs751393950 |
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NM_000520.5(HEXA):c.915_917del (p.Phe305del)
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rs121907960 |
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NM_000520.5(HEXA):c.91C>T (p.Gln31Ter)
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rs556872918 |
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NM_000520.5(HEXA):c.947dup (p.Tyr316Terfs)
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rs786204515 |
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NM_000520.5(HEXA):c.964G>T (p.Asp322Tyr)
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rs772180415 |
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NM_000520.5(HEXA):c.977del (p.Phe326Serfs)
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rs756040251 |
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NM_000520.5(HEXA):c.986+3A>G
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rs200926928 |
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NM_001318825.1(HEXA):c.1544G>A (p.Arg515His)
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rs121907955 |