List of variants reported as likely pathogenic for bone sarcoma

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)	rs17879961	0.00434
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)	rs141568342	0.00015
NM_007194.4(CHEK2):c.319+2T>A	rs587782401	0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)	rs28909982	0.00009
NM_004260.4(RECQL4):c.1717C>T (p.Gln573Ter)	rs1483085748	0.00003
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)	rs587782471	0.00003
NM_000546.6(TP53):c.395A>G (p.Lys132Arg)	rs1057519996	0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)	rs72552322	0.00001
NM_000546.6(TP53):c.1101-1G>A	rs876658982
NM_000546.6(TP53):c.298del (p.Gln100fs)	rs1567556006
NM_000546.6(TP53):c.427G>A (p.Val143Met)	rs587782620
NM_000546.6(TP53):c.641A>G (p.His214Arg)	rs1057519992
NM_000546.6(TP53):c.722C>T (p.Ser241Phe)	rs28934573
NM_000546.6(TP53):c.773A>G (p.Glu258Gly)	rs1060501201
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)	rs55832599
NM_000546.6(TP53):c.832C>G (p.Pro278Ala)	rs17849781
NM_000546.6(TP53):c.842A>T (p.Asp281Val)	rs587781525
NM_007194.4(CHEK2):c.1006del (p.Gln336fs)
NM_007194.4(CHEK2):c.1008+2T>G	rs1555915295
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)	rs1231012263
NM_007194.4(CHEK2):c.1518del (p.Ala507fs)
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)	rs200432447
NM_007194.4(CHEK2):c.31C>T (p.Gln11Ter)	rs1349961118
NM_007194.4(CHEK2):c.593-2A>C
NM_007194.4(CHEK2):c.684-2A>G	rs2053419665
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)	rs786201896
NM_007194.4(CHEK2):c.793-1G>A	rs730881687
NM_007194.4(CHEK2):c.846+4_846+7del	rs764884641
NM_007194.4(CHEK2):c.909-2A>G	rs1555915589

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