PMID: 35449110

5-Hydroxymethylcytosine (5hmC) at or near cancer mutation hot spots as potential targets for early cancer detection.

BMC research notes
Lu, Michael J MJ, Lu, Yabin Y
2022-04-21

14 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
13-32906729-A-C BRCA2 c.1114A>C p.N372H Missense 10/27 -
11-108117798-C-T ATM c.1009C>T p.R337C Missense 8/63 -
5-112175639-C-T APC c.4348C>T p.R1450* Nonsense 16/16 -
17-41245178-AG-CA BRCA1 c.2369_2370delCTinsTG p.T790M Missense 10/23 -
2-212488718-G-A ERBB4 c.2131C>T p.R711C Missense 18/28 -
15-66729162-C-T MAP2K1 c.370C>T p.P124S Missense 3/11 -
19-11132513-C-T SMARCA4 c.2729C>T p.T910M Missense 19/35 -
17-41276065-C-T BRCA1 c.49G>A p.A17T Missense 2/23 -
17-41267746-C-T BRCA1 c.131G>A p.C44Y Missense 3/23 -
1-162746002-C-T DDR2 c.2125C>T p.R709* Nonsense 16/18 -
13-32910617-C-T BRCA2 c.2125C>T p.L709= Synonymous 11/27 -
13-32899291-G-A BRCA2 c.395G>A p.C132Y Missense 4/27 -
17-41245179-G-A BRCA1 c.2369C>T p.T790I Missense 10/23 -
13-32907248-G-A BRCA2 c.1633G>A p.V545I Missense 10/27 -