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. Author manuscript; available in PMC: 2021 Apr 7.
Published in final edited form as: Nature. 2020 Oct 7;586(7830):600–605. doi: 10.1038/s41586-020-2785-8

Table 1 |. Pathogenic mutations in melanocytes from normal human skin.

A curated list of pathogenic mutations in melanocytes found in this study (see methods for details on how they were defined). BCC = Basal Cell Carcinoma, Mel = Melanoma.

Pathway Hugo Symbol Protein Change Donor Site
MAPK BRAF p.G466R Donor6 Back (adjacent to a BCC)
BRAF p.G466R Donor6 Back (adjacent to a Mel)
BRAF p.D594G Donor6 Back (adjacent to a Mel)
BRAF p.D594G Donor6 Back (adjacent to a Mel)
BRAF p.D594G Donor13 Back (adjacent to a Mel)
BRAF p.D594G Donor13 Back (adjacent to a Mel)
BRAF p.D594G Donor13 Back (adjacent to a Mel)
CBL p.H398L Donor4 Shin
CBL p.H398L Donor4 Shin
MAP2K1 p.E203K Donor4 Shoulder
MAP2K1 p.E203K Donor10 Thigh
NF1 p.W1314* Donor6 Back (adjacent to a BCC)
NF1 p.P1847L Donor13 Back (adjacent to a Mel)
NF1 p.Q2239* Donor13 Back (adjacent to a Mel)
NF1 p.R1276* Donor6 Back (adjacent to a Mel)
NF1 p.V2511fs Donor10 Back
RASA2 p.L83I Donor6 Back (adjacent to a BCC)
RASA2 p.P376S Donor13 Back (adjacent to a Mel)
RASA2 p.P376S Donor13 Back (adjacent to a Mel)
NRAS p.Q61L Donor13 Back (adjacent to a Mel)
Cell Cycle CDKN2A p.V43M Donor6 Back (adjacent to a BCC)
PPP6C p.R264C Donor10 Back
Epigenetic ARID2 p.E1670K Donor7 Cheek
ARID2 p.Q1591* Donor4 Buttock
ARID2 p.A18V Donor6 Back (adjacent to a Mel)
ARID2 p.L202S Donor6 Back (adjacent to a Mel)
ARID2 p.P1392L Donor13 Ear
PI3K PTEN p.QYPFEDH87fs Donor13 Ear
RNA Processing DDX3X p.P167L Donor13 Back (adjacent to a Mel)