PMID: 26938746

Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.

PloS one
P Johansen, JD Andersen, LN Madsen, H Ullum, M Glud, C Børsting, R Gniadecki, N Morling
2016

44 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
20-33355046-G-A NCOA6 c.514+1221C>T - IntronicSNV - 5/14
15-48426484-A-G SLC24A5 c.331A>G p.Thr111Ala Missense 3/9 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
4-55602765-G-C KIT c.2586G>C p.Leu862Leu Synonymous 18/21 -
16-89986365-G-A MC1R c.699G>A p.Gln233Gln Synonymous 1/1 -
11-76912636-A-T MYO7A c.4996A>T p.Ser1666Cys Missense 36/49 -
15-28338713-A-C OCA2 c.-22+5657T>G - intron_variant - 1/23
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
2-223161889-A-G PAX3 c.129T>C p.Gly43Gly Synonymous 2/4 -
15-48426484-A-T SLC24A5 c.331A>T p.Thr111Ser Missense 3/9 -
16-89985778-G-A MC1R c.112G>A p.Val38Met Missense 1/1 -
16-89986268-T-G MC1R c.602T>G p.Val201Gly Missense 1/1 -
16-89985752-A-AA MC1R c.86dupA p.Asn29Lysfs*14 Frameshift 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
5-1322087-C-T CLPTM1L c.1316-153G>A - IntronicSNV - 13/16
11-89011046-G-A TYR c.1185-6895G>A - IntronicSNV - 3/4
5-33963870-C-T SLC45A2 c.814G>A p.Glu272Lys Missense 3/7 -
3-70014384-G-A MITF c.1548G>A p.Thr516Thr Synonymous 10/10 -
15-28344238-A-G OCA2 c.-22+132T>C - intron_variant - 1/23
16-89755903-A-T CDK10 c.-54+171A>T - intron_variant - 2/12
16-89986608-A-C MC1R c.942A>C p.Thr314Thr Synonymous 1/1 -
16-89986458-C-T MC1R c.792C>T p.Ile264Ile Synonymous 1/1 -
11-88911696-C-A TYR c.575C>A p.Ser192Tyr Missense 1/5 -
9-12709586-A-T TYRP1 c.*404A>T - 3-UTRSNV 8/8 -
16-89755903-A-G CDK10 c.-54+171A>G - intron_variant - 2/12
16-89986608-A-G MC1R c.942A>G p.Thr314Thr Synonymous 1/1 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
16-89986421-T-A MC1R c.755T>A p.Leu252His Missense 1/1 -
16-89986503-C-A MC1R c.837C>A p.Asn279Lys Missense 1/1 -
16-89986122-C-A MC1R c.456C>A p.Tyr152* Nonsense 1/1 -
16-89985918-C-G MC1R c.252C>G p.Asp84Glu Missense 1/1 -
13-95100841-A-G DCT c.1236-2826T>C - IntronicSNV - 7/9
13-95100841-A-T DCT c.1236-2826T>A - IntronicSNV - 7/9
13-95100841-A-C DCT c.1236-2826T>G - IntronicSNV - 7/9
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
16-89986241-T-G MC1R c.575T>G p.Leu192Arg Missense 1/1 -
22-38544298-A-G PLA2G6 c.210-2638T>C - IntronicSNV - 2/15
15-28230318-C-T OCA2 c.1256G>A p.Arg419Gln Missense 13/24 -
16-89986608-A-T MC1R c.942A>T p.Thr314Thr Synonymous 1/1 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
7-23296533-G-A GPNMB c.390G>A p.Pro130Pro Synonymous 4/11 -
5-33958959-C-A SLC45A2 c.889-4350G>T - IntronicSNV - 3/6
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
2-223161889-A-T PAX3 c.129T>A p.Gly43Gly Synonymous 2/4 -