PMID: 27077130

Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

EBioMedicine
SS Jamuar, JL Kuan, M Brett, Z Tiang, WL Tan, JY Lim, WK Liew, A Javed, WK Liew, HY Law, ES Tan, A Lai, I Ng, YY Teo, B Venkatesh, B Reversade, EC Tan, R Foo
2016-03

15 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
2-189861145-C-T COL3A1 c.1684C>T p.Arg562* Nonsense 24/51 -
3-38640472-C-T SCN5A c.1960G>A p.Glu654Lys Missense 13/28 -
1-45797760-T-C MUTYH c.925-2A>G - IntronicSNV - 10/15
1-201333442-CG-TA TNNT2 c.472_473delCGinsTA p.Arg158* Nonsense 11/16 -
3-38645439-C-G SCN5A c.1654G>C p.Gly552Arg Missense 12/28 -
3-38645439-C-T SCN5A c.1654G>A p.Gly552Arg Missense 12/28 -
13-32915033-G-T BRCA2 c.6541G>T p.Gly2181* Nonsense 11/27 -
3-38622640-A-G SCN5A c.3010T>C p.Cys1004Arg Missense 17/28 -
1-55527110-C-T PCSK9 c.1744C>T p.Arg582* Nonsense 11/12 -
15-48888525-G-C FBN1 c.493C>G p.Arg165Gly Missense 6/66 -
3-38592986-C-T SCN5A c.4877G>A p.Arg1626His Missense 28/28 -
10-43601830-G-A RET c.874G>A p.Val292Met Missense 5/20 -
3-38592986-C-A SCN5A c.4877G>T p.Arg1626Leu Missense 28/28 -
3-38592386-C-T SCN5A c.5477G>A p.Arg1826His Missense 28/28 -
3-38592986-C-G SCN5A c.4877G>C p.Arg1626Pro Missense 28/28 -