NC_000015.10:g.(?_40412971)_(40418283_?)del
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NC_000015.10:g.(?_40413063)_(40414126_?)del
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NC_000015.10:g.(?_40416058)_(40418283_?)del
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NC_000015.10:g.(?_40416068)_(40418273_?)del
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NM_002225.5(IVD):c.-8T>C
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rs566691073 |
NM_002225.5(IVD):c.-9A>T
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rs373594717 |
NM_002225.5(IVD):c.102_103del (p.Val35fs)
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rs1057517379 |
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)
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rs398123679 |
NM_002225.5(IVD):c.1179del (p.Leu394fs)
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rs786204613 |
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
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rs398123681 |
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
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rs773560012 |
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)
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rs1555405428 |
NM_002225.5(IVD):c.144+1G>A
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rs928991928 |
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
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rs34695403 |
NM_002225.5(IVD):c.149G>A (p.Arg50His)
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rs2229311 |
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
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rs2229311 |
NM_002225.5(IVD):c.157_160dup (p.Ala54fs)
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rs1555403211 |
NM_002225.5(IVD):c.158T>C (p.Met53Thr)
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NM_002225.5(IVD):c.232C>T (p.Arg78Ter)
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rs765815516 |
NM_002225.5(IVD):c.287-1G>A
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rs1398838997 |
NM_002225.5(IVD):c.287-2A>C
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NM_002225.5(IVD):c.349C>T (p.Arg117Ter)
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rs776015412 |
NM_002225.5(IVD):c.350G>A (p.Arg117Gln)
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NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
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rs142761835 |
NM_002225.5(IVD):c.381del (p.Ala128fs)
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rs769048174 |
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
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rs398123682 |
NM_002225.5(IVD):c.44G>A (p.Trp15Ter)
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rs907414760 |
NM_002225.5(IVD):c.456+22_510delinsGTTG
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rs1555403942 |
NM_002225.5(IVD):c.456+2T>C
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rs398123683 |
NM_002225.5(IVD):c.457-2A>G
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rs771914739 |
NM_002225.5(IVD):c.457-3_457-2delinsGG
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rs786204427 |
NM_002225.5(IVD):c.498del (p.Glu166fs)
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rs398123684 |
NM_002225.5(IVD):c.550+1G>A
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rs377147994 |
NM_002225.5(IVD):c.551-1G>A
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rs1057517043 |
NM_002225.5(IVD):c.599del (p.Pro200fs)
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rs1566936542 |
NM_002225.5(IVD):c.711dup (p.Lys238Ter)
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rs1555404426 |
NM_002225.5(IVD):c.744dup (p.Asn249Ter)
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rs1057516769 |
NM_002225.5(IVD):c.785-1G>A
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rs1555404784 |
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
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rs373534546 |
NM_002225.5(IVD):c.870dup (p.Pro291fs)
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rs759159766 |
NM_002225.5(IVD):c.878+1G>A
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rs745629936 |
NM_002225.5(IVD):c.883A>T (p.Met295Leu)
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rs1595786853 |
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
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rs796051983 |
NM_002225.5(IVD):c.961-1G>T
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rs1555405067 |
NM_002225.5(IVD):c.961-2A>G
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rs1057517056 |
NM_002225.5(IVD):c.974del (p.Lys325fs)
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rs1555405070 |
NM_002225.5(IVD):c.994del (p.Arg332fs)
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rs1555405080 |