PMID: 27403562

Germline MC1R status influences somatic mutation burden in melanoma.

Nature communications
CD Robles-Espinoza, ND Roberts, S Chen, FP Leacy, LB Alexandrov, N Pornputtapong, R Halaban, M Krauthammer, R Cui, D Timothy Bishop, DJ Adams
2016-07-12

24 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89985931-G-A MC1R c.265G>A p.Gly89Arg Missense 1/1 -
16-89986133-T-C MC1R c.467T>C p.Val156Ala Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
16-89985950-C-T MC1R c.284C>T p.Thr95Met Missense 1/1 -
16-89986303-C-T MC1R c.637C>T p.Arg213Trp Missense 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
16-89986170-C-G MC1R c.504C>G p.Ile168Met Missense 1/1 -
16-89986132-G-C MC1R c.466G>C p.Val156Leu Missense 1/1 -
16-89986029-C-G MC1R c.363C>G p.Asp121Glu Missense 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
15-28277272-A-G OCA2 c.265T>C p.Ser89Pro Missense 3/24 -
16-89985931-G-C MC1R c.265G>C p.Gly89Arg Missense 1/1 -
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
16-89986333-C-T MC1R c.667C>T p.Arg223Trp Missense 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89986111-G-A MC1R c.445G>A p.Ala149Thr Missense 1/1 -
16-89986030-G-A MC1R c.364G>A p.Val122Met Missense 1/1 -
16-89986583-G-A MC1R c.917G>A p.Arg306His Missense 1/1 -
16-89985914-C-T MC1R c.248C>T p.Ser83Leu Missense 1/1 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89985913-T-C MC1R c.247T>C p.Ser83Pro Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -