NC_000009.11:g.(?_130578190)_(130592112_?)dup
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NC_000009.11:g.(?_130586573)_(130592116_?)del
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NC_000009.11:g.(?_130587069)_(130592116_?)dup
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NC_000009.12:g.(?_127824284)_(127824994_?)del
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NC_000009.12:g.(?_127824284)_(127829847_?)del
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NC_000009.12:g.(?_127824294)_(127825367_?)dup
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NC_000009.12:g.(?_127824294)_(127826683_?)del
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NM_001114753.3(ENG):c.-58G>A
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NM_001114753.3(ENG):c.1121_1122delinsGC (p.Lys374Ser)
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rs2131885751
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NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr)
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rs2131879350
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NM_001114753.3(ENG):c.1160T>C (p.Leu387Pro)
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rs1564453623
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NM_001114753.3(ENG):c.1166_1168del (p.Phe389del)
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rs1588577016
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NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)
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rs1830433526
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NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser)
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NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn)
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rs1554809516
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NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)
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rs1830432884
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NM_001114753.3(ENG):c.1241T>G (p.Met414Arg)
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rs1830432509
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NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly)
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NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln)
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NM_001114753.3(ENG):c.1311+5G>A
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rs1830423993
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NM_001114753.3(ENG):c.1311G>T (p.Arg437=)
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rs1554809448
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NM_001114753.3(ENG):c.1312-1G>C
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rs2131877148
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NM_001114753.3(ENG):c.1429-23_1429-1del
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NM_001114753.3(ENG):c.146T>A (p.Val49Asp)
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NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe)
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NM_001114753.3(ENG):c.1517T>A (p.Leu506His)
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rs778594104
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NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro)
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rs2131875808
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NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)
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rs1564462765
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NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser)
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rs1830376644
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NM_001114753.3(ENG):c.1686+5G>A
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rs1830374353
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NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)
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rs1830302008
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NM_001114753.3(ENG):c.219+2T>G
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NM_001114753.3(ENG):c.219+5G>A
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rs1554812252
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NM_001114753.3(ENG):c.293T>A (p.Val98Asp)
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rs1830715947
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NM_001114753.3(ENG):c.360+4A>G
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rs1564457752
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NM_001114753.3(ENG):c.360+4_360+7del
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rs2131894927
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NM_001114753.3(ENG):c.361-11T>A
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NM_001114753.3(ENG):c.619T>C (p.Cys207Arg)
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rs2131889169
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NM_001114753.3(ENG):c.65_67+19del
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NM_001114753.3(ENG):c.679_689+7del
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NM_001114753.3(ENG):c.706G>A (p.Val236Met)
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NM_001114753.3(ENG):c.884C>T (p.Thr295Ile)
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rs12042
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NM_001114753.3(ENG):c.88T>C (p.Cys30Arg)
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rs1564462834
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NM_001114753.3(ENG):c.895C>G (p.Leu299Val)
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NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)
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rs1830569662
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NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
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NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
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NM_001114753.3(ENG):c.991+4A>G
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rs2131886797
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NM_001114753.3(ENG):c.992-49_1046del
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