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
7-140494148-G-A BRAF c.1100C>T p.P367L Missense 8/18 -
7-140477800-C-T BRAF c.1508G>A p.G503E Missense 12/18 -
7-140624403-GCGGCGC-G BRAF c.95_100delGCGCCG p.G32_A33del InFrameDeletion 1/18 -
7-140439617-G-A BRAF c.2122C>T p.P708S Missense 17/18 -
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 -
7-140494163-C-T BRAF c.1085G>A p.R362Q Missense 8/18 -
7-140624432-C-G BRAF c.72G>C p.E24D Missense 1/18 -
7-140624403-GCGGCGCCGGCGC-G BRAF c.89_100del12 p.G30_A33del InFrameDeletion 1/18 -
7-140487374-C-G BRAF c.1151G>C p.R384T Missense 9/18 -
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 -
7-140453193-T-C BRAF c.1742A>G p.N581S Missense 15/18 -
7-140481417-C-T BRAF c.1391G>A p.G464E Missense 11/18 -
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 -
7-140482826-G-A BRAF c.1309C>T p.R437* Nonsense 10/18 -
7-140453137-C-CTTG BRAF c.1797_1798insCAA p.T599_V600insQ InFrameInsertion 15/18 -
7-140481403-C-T BRAF c.1405G>A p.G469R 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 -
7-140477861-T-C BRAF c.1447A>G p.K483E Missense 12/18 -
7-140453136-AC-CT BRAF c.1798_1799delGTinsAG p.V600R Missense 15/18 -
7-140453135-CA-GT BRAF c.1799_1800delTGinsAC p.V600D Missense 15/18 -
7-140453145-A-C BRAF c.1790T>G p.L597R Missense 15/18 -
7-140453150-A-C BRAF c.1785T>G 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 -
7-140453152-A-G BRAF c.1783T>C p.F595L Missense 15/18 -
7-140453150-A-T BRAF c.1785T>A p.F595L Missense 15/18 -
7-140453154-T-C BRAF c.1781A>G p.D594G Missense 15/18 -
7-140453132-T-G BRAF c.1803A>C p.K601N Missense 15/18 -
7-140453132-T-A BRAF c.1803A>T p.K601N Missense 15/18 -
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 -
7-140481405-A-G BRAF c.1403T>C p.F468S Missense 11/18 -
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 -
7-140481401-TCC-GCT BRAF c.1405_1407delGGAinsAGC p.G469S Missense 11/18 -
7-140453145-AG-GA BRAF c.1789_1790delCTinsTC p.L597S Missense 15/18 -
7-140453154-T-G BRAF c.1781A>C p.D594A Missense 15/18 -
7-140481411-C-G BRAF c.1397G>C p.G466A Missense 11/18 -
7-140453145-A-T BRAF c.1790T>A p.L597Q Missense 15/18 -
7-140453148-C-A BRAF c.1787G>T p.G596V Missense 15/18 -
7-140453137-C-T BRAF c.1798G>A p.V600M Missense 15/18 -
7-140453193-T-A BRAF c.1742A>T p.N581I Missense 15/18 -
7-140477836-GTAGGTGCTGTCACAT-G BRAF c.1457_1471del15 p.N486_P490del InFrameDeletion 12/18 -
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 -
7-140453987-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 -
7-140481397-C-A BRAF c.1411G>T p.V471F Missense 11/18 -
7-140481402-C-T BRAF c.1406G>A p.G469E Missense 11/18 -
7-140453179-C-T BRAF c.1756G>A p.E586K Missense 15/18 -
7-140477854-A-C BRAF c.1454T>G p.L485W Missense 12/18 -
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 -
7-140501350-G-A BRAF c.722C>T p.T241M Missense 6/18 -
7-140453987-T-A BRAF c.1741A>T p.N581Y Missense 14/18 -
7-140453134-TTCA-T BRAF c.1799_1801delTGA p.V600_K601delinsE MultiAAMissense 15/18 -
7-140439656-C-G BRAF c.2083G>C p.E695Q Missense 17/18 -
7-140501249-C-T BRAF c.823G>A p.E275K Missense 6/18 -
7-140477853-C-G BRAF c.1455G>C p.L485F Missense 12/18 -
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 -
7-140487360-G-A BRAF c.1165C>T p.R389C Missense 9/18 -
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-T BRAF c.741T>A p.F247L Missense 6/18 -
7-140501331-A-C BRAF c.741T>G p.F247L Missense 6/18 -
7-140453136-CA-C BRAF c.1799delT p.V600Gfs*50 Frameshift 15/18 -
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 -
7-140534444-C-T BRAF c.469G>A p.V157I Missense 3/18 -
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 -
7-140494149-G-A BRAF c.1099C>T p.P367S Missense 8/18 -
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 -
7-140434413-G-A BRAF c.2285C>T p.A762V Missense 18/18 -
7-140501260-C-T BRAF c.812G>A p.R271H Missense 6/18 -
7-140453155-C-A BRAF c.1780G>T p.D594Y Missense 15/18 -
7-140434495-G-A BRAF c.2203C>T p.R735W Missense 18/18 -
7-140494247-G-A BRAF c.1001C>T p.P334L Missense 8/18 -
7-140534564-T-G BRAF c.349A>C p.M117L Missense 3/18 -
7-140494187-C-T BRAF c.1061G>A p.R354Q Missense 8/18 -
7-140482925-C-CA BRAF c.1209dupT p.A404Cfs*9 Frameshift 10/18 -
7-140453153-A-C BRAF c.1782T>G p.D594E Missense 15/18 -
7-140487359-C-T BRAF c.1166G>A p.R389H Missense 9/18 -