Neurofibromatosis type 1-associated tumours ... - Human Genomics

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672 # HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 5. NO 6. 623–690 OCTOBER 2011 Table S2. Continued Patient ID Germline point mutation Type of germline mutation Somatic point mutation L-002 E Ex8: c.1153delC p.Arg385AlafsX2 L-002 B Ex22: c.3757_3764del8 p.Leu1253ThrfsX8 NF282-1 Ex9: c.1260þ1G . A Splice site Ex23.2: c.4021C . T p.Gln1341X NF282-2 T473.6 Ex10b: c.1413_1414delAG p.Lys471AsnfsX1 2 bp deletion (FS) Ex23.2: c.4084C . T p.Arg1362X Ex7: c.890delA p.Leu297SerfsX20 Effect of somatic mutation 1 bp deletion (FS) 8 bp deletion (FS) Nonsense 8 Nonsense 1 bp deletion (FS) T473.12 Ex12b: c.1884insA p.Tyr628X 1 bp insertion (FS) T473.11 Ex16: c.2451insG p.Ser818ValfsX12 T473.18 Ex22: c.3807insC p.Ser1270LeufsX13 T473.20 Ex23.2: c.4087delA p.Ser1363ValfsX22 T473.13 Ex31: c.5888A . C p.Asn1963Thr T473.33 Ex34: c.6478A . G p.Ser2160Gly T473.36 Ex38: c.6859delG p.Asp2287ThrfsX18 T473.17 Ex40: c.7128delG p.Tyr2377ThrfsX23 T82.3 Ex12a: c.1754_1757delTAAC p.Thr585ValfsX18 4 bp deletion (FS) Ex16: c.2445delG p.Arg815SerfsX5 1 bp insertion (FS) 1 bp insertion (FS) 1 bp deletion (FS) Missense Missense 1 bp deletion (FS) 1 bp deletion (FS) 1 bp deletion (FS) Source 4 Unpublished data, Cardiff Continued REVIEW Laycock-van Spyk et al.
# HENRY STEWART PUBLICATIONS 1479–7364. HUMAN GENOMICS. VOL 5. NO 6. 623–690 OCTOBER 2011 673 Table S2. Continued Patient ID Germline point mutation Type of germline mutation Somatic point mutation T82.5 Ex35: c.6621_6625delGTGGA p.Gln2207HisfsX11 T77.3 Ex12a: c.1783G . A p.Glu595Lys Missense Ex16: c.2446C . T p.Arg816X R T77.1 Ex29: c.5242C . T p.Arg1748X R T77.4 Ex31: c.5839C . T p.Arg1947X T141.4 Ex13: c.2233delA p.Ser745AlafsX2 1 bp deletion (FS) Ex12b: c.1885G . A p.Gly629Arg T141.13 Ex30: c.5731delT p.Ser1911LeufsX9 R T133 T137 T437 Ex16: c.2446C . T p.Arg816X Ex17: c.2875C . T p.Gln959X Nonsense Ex31: c.5897dupAC p.Glu1966HisfsX25 Ex31: c.5898dupAC p.Glu1966HisfsX25 Effect of somatic mutation 5 bp deletion (FS) Nonsense Nonsense Nonsense Missense 2 bp deletion (FS) 2bp duplication (FS) 2bp duplication (FS) Nonsense Ex2: c.67A .T p.Ile23Leu Missense 4 T441 Ex4b: c.586G . T p.Glu196X Nonsense T459 Ex10c: c.1641þ2T . G Splice site T433 T469 Ex10c: c.1660C . G p.Gln554Glu Ex12a: c.1724delCACA p.Ser575X Missense 4 bp deletion (FS) T468 Ex13: c.2041C . T p.Arg681X Nonsense T472 Ex13: c.2088G . A p.Trp696X Nonsense Source Unpublished data, Cardiff Unpublished data, Cardiff Unpublished data, Cardiff Continued Neurofibromatosis type 1-associated tumours: Their somatic mutational spectrum and pathogenesis REVIEW
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