PMID: 30414346

Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International journal of cancer
TP Potjer, S Bollen, AJEM Grimbergen, R van Doorn, NA Gruis, CJ van Asperen, FJ Hes, N van der Stoep,
2019-05-15

62 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
3-52777422-CTTC-C NEK4 c.1953_1955delAGA p.Glu651delGlu InFrameDeletion 12/16 -
17-59763520-G-C BRIP1 c.2582C>G p.Ser861Cys Missense 19/20 -
8-73958245-A-G TERF1 c.1193A>G p.Tyr398Cys Missense 10/10 -
1-211842488-G-A NEK2 c.952C>T p.Arg318* Nonsense 6/8 -
16-69419819-T-C TERF2 c.56A>G p.Asp19Gly Missense 1/10 -
3-130748679-G-C NEK11 c.127G>C p.Val43Leu Missense 3/18 -
1-211847815-T-C NEK2 c.137A>G p.Glu46Gly Missense 2/8 -
2-128047825-C-T ERCC3 c.496G>A p.Val166Ile Missense 4/15 -
1-226552705-C-T PARP1 c.2656G>A p.Val886Met Missense 19/23 -
15-28228529-T-C OCA2 c.1465A>G p.Asn489Asp Missense 14/24 -
12-133253180-A-T POLE c.861T>A p.Asp287Glu Missense 9/49 -
16-89986091-G-A MC1R c.425G>A p.Arg142His Missense 1/1 -
16-89985940-G-A MC1R c.274G>A p.Val92Met Missense 1/1 -
14-24709952-G-T TINF2 c.734C>A p.Ser245Tyr Missense 6/9 -
15-28230313-G-A OCA2 c.1261C>T p.Arg421Trp Missense 13/24 -
6-43572357-G-A POLH c.890G>A p.Trp297* Nonsense 8/11 -
17-36868202-C-T MLLT6 c.655C>T p.Arg219Trp Missense 7/20 -
9-85605345-T-C RASEF c.2078A>G p.Asp693Gly Missense 16/17 -
2-128030492-A-C ERCC3 c.1776T>G p.Ile592Met Missense 11/15 -
14-24711501-C-A TINF2 c.38G>T p.Arg13Leu Missense 1/9 -
17-59885852-G-T BRIP1 c.894C>A p.Cys298* Nonsense 7/20 -
16-89985844-G-T MC1R c.178G>T p.Val60Leu Missense 1/1 -
9-85620394-CAT-C RASEF c.1049_1050delAT p.His350Argfs*3 Frameshift 8/17 -
2-128046416-G-A ERCC3 c.847C>T p.Arg283Cys Missense 7/15 -
9-85677626-G-A RASEF c.157C>T p.Arg53Trp Missense 1/17 -
3-105464836-T-A CBLB c.770A>T p.His257Leu Missense 6/19 -
17-36878443-G-A MLLT6 c.2755G>A p.Gly919Arg Missense 17/20 -
16-89986546-G-C MC1R c.880G>C p.Asp294His Missense 1/1 -
2-128016978-G-A ERCC3 c.2111C>T p.Ser704Leu Missense 14/15 -
3-52443569-C-A BAP1 c.122+1G>T - IntronicSNV - 3/16
15-28263554-G-A OCA2 c.796C>T p.Arg266Trp Missense 7/24 -
2-128038129-T-TT ERCC3 c.1421_1421dupA p.Asp474Glufs*2 Frameshift 9/15 -
17-36876664-A-C MLLT6 c.2195A>C p.Glu732Ala Missense 15/20 -
3-52800252-A-G NEK4 c.500T>C p.Ile167Thr Missense 3/16 -
17-59876603-C-A BRIP1 c.1198G>T p.Asp400Tyr Missense 9/20 -
15-28228553-C-T OCA2 c.1441G>A p.Ala481Thr Missense 14/24 -
17-59763509-G-A BRIP1 c.2593C>T p.Arg865Trp Missense 19/20 -
15-28171315-C-G OCA2 c.2037G>C p.Trp679Cys Missense 19/24 -
9-21971122-GGTGAGAGTGGCGGGGTCGG-G CDKN2A c.225_243del19 p.Ala76Cysfs*64 Frameshift 2/3 -
16-89986154-G-A MC1R c.488G>A p.Arg163Gln Missense 1/1 -
17-59853790-C-T BRIP1 c.2069G>A p.Gly690Glu Missense 14/20 -
12-133250290-C-T POLE c.1230G>A p.Trp410* Nonsense 13/49 -
15-28230319-G-A OCA2 c.1255C>T p.Arg419Trp Missense 13/24 -
15-28230247-C-T OCA2 c.1327G>A p.Val443Ile Missense 13/24 -
16-89985918-C-A MC1R c.252C>A p.Asp84Glu Missense 1/1 -
17-59924572-G-A BRIP1 c.517C>T p.Arg173Cys Missense 6/20 -
17-59885956-G-A BRIP1 c.790C>T p.Arg264Trp Missense 7/20 -
16-89986117-C-T MC1R c.451C>T p.Arg151Cys Missense 1/1 -
9-85597608-T-A RASEF c.2207A>T p.Asn736Ile Missense 17/17 -
16-69390938-C-T TERF2 c.1492G>A p.Glu498Lys Missense 10/10 -
3-52775426-C-G NEK4 c.2093+1G>C - IntronicSNV - 13/15
16-89986144-C-T MC1R c.478C>T p.Arg160Trp Missense 1/1 -
1-226564936-G-A PARP1 c.1814C>T p.Pro605Leu Missense 13/23 -
6-43565568-G-T POLH c.626G>T p.Gly209Val Missense 5/11 -
3-105438896-G-C CBLB c.1402C>G p.Arg468Gly Missense 10/19 -
16-75682178-G-A TERF2IP c.398G>A p.Arg133Gln Missense 1/3 -
3-52436842-A-AAA BAP1 c.1936_1937insTT p.Tyr646Phefs*10 Frameshift 15/17 -
15-28326863-CC-C OCA2 c.163delG p.Ala55Leufs*47 Frameshift 2/24 -
15-28211880-T-C OCA2 c.1592A>G p.Tyr531Cys Missense 15/24 -
16-89986130-T-C MC1R c.464T>C p.Ile155Thr Missense 1/1 -
12-133253148-T-C POLE c.893A>G p.Tyr298Cys Missense 9/49 -
16-69404432-C-T TERF2 c.794G>A p.Arg265His Missense 5/10 -