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In Mutation search, users can search data of mutations by selecting genes and cancer types.


This table shows point mutations of shelterin. The annotation of mutation followed the recommendations for the description of sequence variant from Human Genome Variation Society (HGVS). HGVSc indicates mutation in coding DNA sequence, HGVSp and HGVSp_shore indicate mutation in protein sequence.

Gene Cancer HGVSc HGVSp HGVSp_Short Patient_count
TPP1 CESC c.1006G>A p.Glu336Lys p.E336K 1
TPP1 LUAD c.100C>T p.Arg34Ter p.R34* 1
TPP1 BLCA c.1061C>G p.Ser354Cys p.S354C 1
TPP1 SKCM c.1063C>A p.Pro355Thr p.P355T 1
TPP1 BLCA c.1075C>A p.Pro359Thr p.P359T 1
TPP1 STAD c.1105G>A p.Gly369Ser p.G369S 1
TPP1 BLCA c.1120G>A p.Glu374Lys p.E374K 1
TPP1 KIRC c.113dupC p.Arg39SerfsTer81 p.R39Sfs*81 1
TPP1 UCEC c.1150C>T p.Pro384Ser p.P384S 1
TPP1 COAD c.1217G>A p.Cys406Tyr p.C406Y 1
TPP1 KIRC c.1223C>T p.Ala408Val p.A408V 1
TPP1 LGG c.1241C>A p.Pro414His p.P414H 1
TPP1 SKCM c.1247C>T p.Ser416Phe p.S416F 1
TPP1 COAD c.1261C>T p.Arg421Cys p.R421C 1
TPP1 SKCM c.1295C>T p.Pro432Leu p.P432L 1
TPP1 SKCM c.130G>A p.Gly44Ser p.G44S 1
TPP1 LUAD c.130G>T p.Gly44Cys p.G44C 1
TPP1 UCEC c.136C>T p.Arg46Cys p.R46C 1
TPP1 COAD c.1405C>T p.Arg469Trp p.R469W 1
TPP1 UCEC c.1405C>T p.Arg469Trp p.R469W 1
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