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In Mutation search, users can search data of mutations by selecting genes and cancer types.
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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 | SKCM | c.851C>T | p.Pro284Leu | p.P284L | 1 |
| TPP1 | UVM | c.865C>G | p.Pro289Ala | p.P289A | 1 |
| TPP1 | CESC | c.874C>T | p.His292Tyr | p.H292Y | 1 |
| TPP1 | UCEC | c.874delC | p.His292ThrfsTer30 | p.H292Tfs*30 | 1 |
| TPP1 | THCA | c.875A>G | p.His292Arg | p.H292R | 1 |
| TPP1 | UCEC | c.937C>A | p.Leu313Met | p.L313M | 1 |
| TPP1 | BLCA | c.949G>C | p.Glu317Gln | p.E317Q | 1 |
| TPP1 | UCEC | c.967C>A | p.Leu323Met | p.L323M | 1 |
| POT1 | PAAD | c.1007-1G>T | . | p.X336_splice | 1 |
| POT1 | SKCM | c.101C>T | p.Pro34Leu | p.P34L | 1 |
| POT1 | COAD | c.1036A>G | p.Thr346Ala | p.T346A | 1 |
| POT1 | HNSC | c.1052T>C | p.Ile351Thr | p.I351T | 1 |
| POT1 | BLCA | c.1064A>T | p.Lys355Ile | p.K355I | 1 |
| POT1 | STAD | c.1066G>A | p.Ala356Thr | p.A356T | 1 |
| POT1 | SARC | c.1069C>T | p.Pro357Ser | p.P357S | 1 |
| POT1 | LUSC | c.10G>T | p.Val4Phe | p.V4F | 1 |
| POT1 | SKCM | c.115A>G | p.Lys39Glu | p.K39E | 1 |
| POT1 | UCEC | c.1162C>A | p.Leu388Met | p.L388M | 1 |
| POT1 | BRCA | c.1169A>T | p.Glu390Val | p.E390V | 1 |
| POT1 | LUSC | c.1183G>T | p.Gly395Cys | p.G395C | 1 |