|
NC_000015.10:g.(?_40412971)_(40418283_?)del
|
|
|
NC_000015.10:g.(?_40413063)_(40414126_?)del
|
|
|
NC_000015.10:g.(?_40416058)_(40418283_?)del
|
|
|
NC_000015.10:g.(?_40416068)_(40418273_?)del
|
|
|
NM_002225.5(IVD):c.-8T>C
|
rs566691073
|
|
NM_002225.5(IVD):c.-9A>T
|
rs373594717
|
|
NM_002225.5(IVD):c.102_103del (p.Val35fs)
|
rs1057517379
|
|
NM_002225.5(IVD):c.1066G>A (p.Asp356Asn)
|
rs398123679
|
|
NM_002225.5(IVD):c.1138+1G>A
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|
|
NM_002225.5(IVD):c.1179del (p.Leu394fs)
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rs786204613
|
|
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter)
|
rs398123681
|
|
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys)
|
rs773560012
|
|
NM_002225.5(IVD):c.1229_1256del (p.Arg410fs)
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rs1555405428
|
|
NM_002225.5(IVD):c.144+1G>A
|
rs928991928
|
|
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
|
rs34695403
|
|
NM_002225.5(IVD):c.149G>A (p.Arg50His)
|
rs2229311
|
|
NM_002225.5(IVD):c.149G>C (p.Arg50Pro)
|
rs2229311
|
|
NM_002225.5(IVD):c.157_160dup (p.Ala54fs)
|
rs1555403211
|
|
NM_002225.5(IVD):c.158T>C (p.Met53Thr)
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|
|
NM_002225.5(IVD):c.232C>T (p.Arg78Ter)
|
rs765815516
|
|
NM_002225.5(IVD):c.286+2T>C
|
rs748026507
|
|
NM_002225.5(IVD):c.287-1G>A
|
rs1398838997
|
|
NM_002225.5(IVD):c.287-2A>C
|
|
|
NM_002225.5(IVD):c.349C>T (p.Arg117Ter)
|
rs776015412
|
|
NM_002225.5(IVD):c.350G>A (p.Arg117Gln)
|
|
|
NM_002225.5(IVD):c.358G>A (p.Gly120Arg)
|
rs142761835
|
|
NM_002225.5(IVD):c.381del (p.Ala128fs)
|
rs769048174
|
|
NM_002225.5(IVD):c.397_398del (p.Cys133fs)
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rs398123682
|
|
NM_002225.5(IVD):c.44G>A (p.Trp15Ter)
|
rs907414760
|
|
NM_002225.5(IVD):c.456+22_510delinsGTTG
|
rs1555403942
|
|
NM_002225.5(IVD):c.456+2T>C
|
rs398123683
|
|
NM_002225.5(IVD):c.457-2A>G
|
rs771914739
|
|
NM_002225.5(IVD):c.457-2A>T
|
|
|
NM_002225.5(IVD):c.457-3_457-2delinsGG
|
rs786204427
|
|
NM_002225.5(IVD):c.498del (p.Glu166fs)
|
rs398123684
|
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
|
NM_002225.5(IVD):c.551-1G>A
|
rs1057517043
|
|
NM_002225.5(IVD):c.599del (p.Pro200fs)
|
rs1566936542
|
|
NM_002225.5(IVD):c.711dup (p.Lys238Ter)
|
rs1555404426
|
|
NM_002225.5(IVD):c.744dup (p.Asn249Ter)
|
rs1057516769
|
|
NM_002225.5(IVD):c.785-1G>A
|
rs1555404784
|
|
NM_002225.5(IVD):c.851G>A (p.Arg284Gln)
|
rs373534546
|
|
NM_002225.5(IVD):c.870dup (p.Pro291fs)
|
rs759159766
|
|
NM_002225.5(IVD):c.878+1G>A
|
rs745629936
|
|
NM_002225.5(IVD):c.883A>T (p.Met295Leu)
|
rs1595786853
|
|
NM_002225.5(IVD):c.890C>T (p.Ala297Val)
|
rs796051983
|
|
NM_002225.5(IVD):c.960G>T (p.Gln320His)
|
rs367814475
|
|
NM_002225.5(IVD):c.961-1G>T
|
rs1555405067
|
|
NM_002225.5(IVD):c.961-2A>G
|
rs1057517056
|
|
NM_002225.5(IVD):c.961-2A>T
|
|
|
NM_002225.5(IVD):c.974del (p.Lys325fs)
|
rs1555405070
|
|
NM_002225.5(IVD):c.994del (p.Arg332fs)
|
rs1555405080
|