NM_000521.4(HEXB):c.851G>A (p.Arg284Gln)
|
rs1352786910
|
0.00002
|
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)
|
rs750727201
|
0.00001
|
NM_000520.6(HEXA):c.253+1G>A
|
rs770093080
|
0.00001
|
NM_000521.4(HEXB):c.1508+1G>A
|
rs758459585
|
0.00001
|
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro)
|
rs938611392
|
0.00001
|
NC_000005.9:g.(?_73992508)_(73992941_?)dup
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|
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NC_000015.10:g.(?_72345446)_(72346710_?)del
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|
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NC_000015.9:g.(?_72637767)_(72639071_?)del
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|
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NC_000015.9:g.(?_72640007)_(72641620_?)dup
|
|
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NM_000405.5(GM2A):c.367del (p.Glu123fs)
|
rs1302210667
|
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NM_000520.6(HEXA):c.1031T>C (p.Phe344Ser)
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|
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NM_000520.6(HEXA):c.1074-7_1074-3del
|
rs759219683
|
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NM_000520.6(HEXA):c.1171G>A (p.Val391Met)
|
rs2140320821
|
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NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis)
|
rs1177678117
|
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NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser)
|
rs121907978
|
|
NM_000520.6(HEXA):c.1363G>A (p.Gly455Arg)
|
|
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NM_000520.6(HEXA):c.254-1G>C
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|
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NM_000520.6(HEXA):c.254-2A>G
|
rs2088785868
|
|
NM_000520.6(HEXA):c.379C>T (p.Leu127Phe)
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|
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NM_000520.6(HEXA):c.412+1G>T
|
rs2140328162
|
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NM_000520.6(HEXA):c.413-1G>A
|
|
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NM_000520.6(HEXA):c.413-2A>G
|
rs2088733862
|
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NM_000520.6(HEXA):c.459+1G>A
|
rs2140326761
|
|
NM_000520.6(HEXA):c.459+2dup
|
rs1555473138
|
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NM_000520.6(HEXA):c.538T>C (p.Tyr180His)
|
rs28941771
|
|
NM_000520.6(HEXA):c.638A>G (p.Tyr213Cys)
|
|
|
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn)
|
rs780134593
|
|
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)
|
rs121907954
|
|
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp)
|
rs2088664194
|
|
NM_000520.6(HEXA):c.814G>A (p.Gly272Arg)
|
|
|
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu)
|
rs1316178162
|
|
NM_000520.6(HEXA):c.965A>T (p.Asp322Val)
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|
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NM_000520.6(HEXA):c.986+1G>A
|
rs2140322856
|
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NM_000520.6(HEXA):c.986+1G>C
|
rs2140322856
|
|
NM_000520.6(HEXA):c.996C>A (p.Asn332Lys)
|
|
|
NM_000521.4(HEXB):c.1082+2T>C
|
rs989299922
|
|
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.1418-12_1418del
|
rs1554037076
|
|
NM_000521.4(HEXB):c.1514G>C (p.Arg505Pro)
|
rs121907983
|
|
NM_000521.4(HEXB):c.1614-7_1614-1dup
|
rs2112188865
|
|
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.300-1G>A
|
rs967720287
|
|
NM_000521.4(HEXB):c.300-1G>C
|
rs967720287
|
|
NM_000521.4(HEXB):c.409T>C (p.Cys137Arg)
|
|
|
NM_000521.4(HEXB):c.558+1G>C
|
rs1198764997
|
|
NM_000521.4(HEXB):c.559-1G>A
|
|
|
NM_000521.4(HEXB):c.559-1G>T
|
rs1311903314
|
|
NM_000521.4(HEXB):c.659T>C (p.Leu220Pro)
|
rs1749130818
|
|
NM_000521.4(HEXB):c.705C>G (p.His235Gln)
|
rs2112156345
|
|
NM_000521.4(HEXB):c.772-2A>C
|
|
|
NM_000521.4(HEXB):c.872C>T (p.Thr291Ile)
|
rs2112171931
|
|
NM_000521.4(HEXB):c.925T>C (p.Cys309Arg)
|
|
|