PMID: 36275468

Clinical associations and genetic interactions of oncogenic BRAF alleles.

PeerJ

Wagner, Sebastian A SA

2022

98 variants were identified in this publication

Variant ID	Gene	cDNA	Protein	Consequence	Exon	Intron
7-140494169-C-T	BRAF	c.1079G>A	p.R360Q	Missense	8/18	-
7-140500178-C-T	BRAF	c.964G>A	p.A322T	Missense	7/18	-
7-140624403-GCGGCGCCGGCGC-G	BRAF	c.89_100del12	p.G30_A33del	InFrameDeletion	1/18	-
7-140494148-G-A	BRAF	c.1100C>T	p.P367L	Missense	8/18	-
7-140494163-C-T	BRAF	c.1085G>A	p.R362Q	Missense	8/18	-
7-140487374-C-G	BRAF	c.1151G>C	p.R384T	Missense	9/18	-
7-140482826-G-A	BRAF	c.1309C>T	p.R437*	Nonsense	10/18	-
7-140624432-C-G	BRAF	c.72G>C	p.E24D	Missense	1/18	-
7-140624432-C-A	BRAF	c.72G>T	p.E24D	Missense	1/18	-
7-140534597-C-G	BRAF	c.316G>C	p.G106R	Missense	3/18	-
7-140481403-C-T	BRAF	c.1405G>A	p.G469R	Missense	11/18	-
7-140453137-C-CTTG	BRAF	c.1797_1798insCAA	p.T599_V600insQ	InFrameInsertion	15/18	-
7-140481417-C-T	BRAF	c.1391G>A	p.G464E	Missense	11/18	-
7-140481403-C-G	BRAF	c.1405G>C	p.G469R	Missense	11/18	-
7-140453155-C-T	BRAF	c.1780G>A	p.D594N	Missense	15/18	-
7-140481402-C-A	BRAF	c.1406G>T	p.G469V	Missense	11/18	-
7-140481411-C-A	BRAF	c.1397G>T	p.G466V	Missense	11/18	-
7-140453139-G-A	BRAF	c.1796C>T	p.T599I	Missense	15/18	-
7-140453193-T-C	BRAF	c.1742A>G	p.N581S	Missense	15/18	-
7-140453145-A-C	BRAF	c.1790T>G	p.L597R	Missense	15/18	-
7-140453136-AC-CT	BRAF	c.1798_1799delGTinsAG	p.V600R	Missense	15/18	-
7-140453150-A-C	BRAF	c.1785T>G	p.F595L	Missense	15/18	-
7-140453135-CA-GT	BRAF	c.1799_1800delTGinsAC	p.V600D	Missense	15/18	-
7-140477861-T-C	BRAF	c.1447A>G	p.K483E	Missense	12/18	-
7-140453152-A-G	BRAF	c.1783T>C	p.F595L	Missense	15/18	-
7-140453150-A-T	BRAF	c.1785T>A	p.F595L	Missense	15/18	-
7-140453149-C-G	BRAF	c.1786G>C	p.G596R	Missense	15/18	-
7-140453154-T-A	BRAF	c.1781A>T	p.D594V	Missense	15/18	-
7-140453132-T-G	BRAF	c.1803A>C	p.K601N	Missense	15/18	-
7-140481405-A-G	BRAF	c.1403T>C	p.F468S	Missense	11/18	-
7-140453132-T-A	BRAF	c.1803A>T	p.K601N	Missense	15/18	-
7-140481418-C-T	BRAF	c.1390G>A	p.G464R	Missense	11/18	-
7-140481418-C-G	BRAF	c.1390G>C	p.G464R	Missense	11/18	-
7-140481417-C-A	BRAF	c.1391G>T	p.G464V	Missense	11/18	-
7-140481411-C-T	BRAF	c.1397G>A	p.G466E	Missense	11/18	-
7-140481412-C-T	BRAF	c.1396G>A	p.G466R	Missense	11/18	-
7-140481412-C-G	BRAF	c.1396G>C	p.G466R	Missense	11/18	-
7-140481401-TCC-GCT	BRAF	c.1405_1407delGGAinsAGC	p.G469S	Missense	11/18	-
7-140453154-T-G	BRAF	c.1781A>C	p.D594A	Missense	15/18	-
7-140453145-AG-GA	BRAF	c.1789_1790delCTinsTC	p.L597S	Missense	15/18	-
7-140453154-T-C	BRAF	c.1781A>G	p.D594G	Missense	15/18	-
7-140453145-A-T	BRAF	c.1790T>A	p.L597Q	Missense	15/18	-
7-140453137-C-T	BRAF	c.1798G>A	p.V600M	Missense	15/18	-
7-140481411-C-G	BRAF	c.1397G>C	p.G466A	Missense	11/18	-
7-140453193-T-A	BRAF	c.1742A>T	p.N581I	Missense	15/18	-
7-140477854-A-C	BRAF	c.1454T>G	p.L485W	Missense	12/18	-
7-140477836-GTAGGTGCTGTCACAT-G	BRAF	c.1457_1471del15	p.N486_P490del	InFrameDeletion	12/18	-
7-140481397-C-A	BRAF	c.1411G>T	p.V471F	Missense	11/18	-
7-140481402-C-T	BRAF	c.1406G>A	p.G469E	Missense	11/18	-
7-140477807-C-T	BRAF	c.1501G>A	p.E501K	Missense	12/18	-
7-140453148-C-T	BRAF	c.1787G>A	p.G596D	Missense	15/18	-
7-140453148-C-A	BRAF	c.1787G>T	p.G596V	Missense	15/18	-
7-140453987-T-G	BRAF	c.1741A>C	p.N581H	Missense	14/18	-
7-140453155-C-G	BRAF	c.1780G>C	p.D594H	Missense	15/18	-
7-140453193-T-G	BRAF	c.1742A>C	p.N581T	Missense	15/18	-
7-140453179-C-T	BRAF	c.1756G>A	p.E586K	Missense	15/18	-
7-140453153-A-T	BRAF	c.1782T>A	p.D594E	Missense	15/18	-
7-140481408-G-A	BRAF	c.1400C>T	p.S467L	Missense	11/18	-
7-140453134-TTCA-T	BRAF	c.1799_1801delTGA	p.V600_K601delinsE	MultiAAMissense	15/18	-
7-140453987-T-A	BRAF	c.1741A>T	p.N581Y	Missense	14/18	-
7-140439656-C-G	BRAF	c.2083G>C	p.E695Q	Missense	17/18	-
7-140477853-C-G	BRAF	c.1455G>C	p.L485F	Missense	12/18	-
7-140501350-G-A	BRAF	c.722C>T	p.T241M	Missense	6/18	-
7-140501249-C-T	BRAF	c.823G>A	p.E275K	Missense	6/18	-
7-140453133-T-A	BRAF	c.1802A>T	p.K601I	Missense	15/18	-
7-140434507-G-A	BRAF	c.2191C>T	p.P731S	Missense	18/18	-
7-140453185-G-A	BRAF	c.1750C>T	p.L584F	Missense	15/18	-
7-140453990-T-C	BRAF	c.1738A>G	p.N580D	Missense	14/18	-
7-140453115-G-A	BRAF	c.1820C>T	p.S607F	Missense	15/18	-
7-140501333-A-G	BRAF	c.739T>C	p.F247L	Missense	6/18	-
7-140501331-A-C	BRAF	c.741T>G	p.F247L	Missense	6/18	-
7-140501331-A-T	BRAF	c.741T>A	p.F247L	Missense	6/18	-
7-140487360-G-A	BRAF	c.1165C>T	p.R389C	Missense	9/18	-
7-140481417-C-G	BRAF	c.1391G>C	p.G464A	Missense	11/18	-
7-140453149-C-A	BRAF	c.1786G>T	p.G596C	Missense	15/18	-
7-140477853-C-A	BRAF	c.1455G>T	p.L485F	Missense	12/18	-
7-140453136-CA-C	BRAF	c.1799delT	p.V600Gfs*50	Frameshift	15/18	-
7-140534444-C-T	BRAF	c.469G>A	p.V157I	Missense	3/18	-
7-140453155-C-A	BRAF	c.1780G>T	p.D594Y	Missense	15/18	-
7-140534506-G-A	BRAF	c.407C>T	p.S136L	Missense	3/18	-
7-140534564-T-A	BRAF	c.349A>T	p.M117L	Missense	3/18	-
7-140534588-A-T	BRAF	c.325T>A	p.F109I	Missense	3/18	-
7-140534597-C-T	BRAF	c.316G>A	p.G106R	Missense	3/18	-
7-140501317-C-T	BRAF	c.755G>A	p.R252Q	Missense	6/18	-
7-140482926-AG-A	BRAF	c.1208delC	p.P403Lfs*8	Frameshift	10/18	-
7-140494149-G-A	BRAF	c.1099C>T	p.P367S	Missense	8/18	-
7-140501260-C-T	BRAF	c.812G>A	p.R271H	Missense	6/18	-
7-140534564-T-G	BRAF	c.349A>C	p.M117L	Missense	3/18	-
7-140434495-G-A	BRAF	c.2203C>T	p.R735W	Missense	18/18	-
7-140434413-G-A	BRAF	c.2285C>T	p.A762V	Missense	18/18	-
7-140494187-C-T	BRAF	c.1061G>A	p.R354Q	Missense	8/18	-
7-140453153-A-C	BRAF	c.1782T>G	p.D594E	Missense	15/18	-
7-140494247-G-A	BRAF	c.1001C>T	p.P334L	Missense	8/18	-
7-140624403-GCGGCGC-G	BRAF	c.95_100delGCGCCG	p.G32_A33del	InFrameDeletion	1/18	-
7-140482925-C-CA	BRAF	c.1209dupT	p.A404Cfs*9	Frameshift	10/18	-
7-140487359-C-T	BRAF	c.1166G>A	p.R389H	Missense	9/18	-
7-140477800-C-T	BRAF	c.1508G>A	p.G503E	Missense	12/18	-
7-140439617-G-A	BRAF	c.2122C>T	p.P708S	Missense	17/18	-