List of variants studied for Cowden syndrome 1 by Mendelics

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Total variants: 13

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HGVS	dbSNP
NM_006218.4(PIK3CA):c.-138C>T	rs149946088
NM_006218.4(PIK3CA):c.1060-9T>C	rs750875731
NM_006218.4(PIK3CA):c.1146-30G>A	rs8192676
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=)	rs200868796
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=)	rs370692448
NM_006218.4(PIK3CA):c.1747-9C>T	rs201779641
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=)	rs199540873
NM_006218.4(PIK3CA):c.1850G>A (p.Arg617Gln)	rs3865687
NM_006218.4(PIK3CA):c.2016-12C>T	rs147286696
NM_006218.4(PIK3CA):c.2016-29A>T	rs374926790
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=)	rs199693043
NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp)	rs1576947658
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	rs121913279

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