PMID: 32346747

Melanoma Risk and Melanocyte Biology.

Acta dermato-venereologica
JU Bertrand, E Steingrimsson, F Jouenne, B Bressac-de Paillerets, L Larue
2020-06-03

15 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
12-133252386-C-A POLE c.1041G>T p.Trp347Cys Missense 11/49 -
16-75681724-T-G TERF2IP c.1-57T>G - 5-UTRSNV 1/3 -
12-58145431-G-A CDK4 c.70C>T p.Arg24Cys Missense 2/8 -
3-52436840-A-T BAP1 c.1938T>A p.Tyr646* Nonsense 15/17 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
9-21971057-C-A CDKN2A c.301G>T p.Gly101Trp Missense 2/3 -
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -