Entrez Gene

Basic Information
Gene ID	2705
Name	GJB1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.441C>T; p.A147A; 23:71224148-71224148	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.548G>A; p.R183H; 23:71224255-71224255	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.274G>A; p.A92T; 23:71223981-71223981	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.13G>T; p.G5C; 23:71223720-71223720	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.80_81insTCATCT; p.V27_I28insHL; 23:71223787-71223788	liver	carcinoma; hepatocellular_carcinoma	Insertion - In frame
c.571A>T; p.T191S; 23:71224278-71224278	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.565G>A; p.V189I; 23:71224272-71224272	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.807C>T; p.T269T; 23:71224514-71224514	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.698C>T; p.S233L; 23:71224405-71224405	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.398G>A; p.W133*; 23:71224105-71224105	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.398G>A; p.W133*; 23:71224105-71224105	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.564C>T; p.T188T; 23:71224271-71224271	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.507C>T; p.D169D; 23:71224214-71224214	bone; extraskeletal	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.507C>T; p.D169D; 23:71224214-71224214	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.507C>T; p.D169D; 23:71224214-71224214	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.507C>T; p.D169D; 23:71224214-71224214	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.484A>T; p.M162L; 23:71224191-71224191	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.254C>G; p.S85C; 23:71223961-71223961	breast	carcinoma	Substitution - Missense
c.132G>A; p.W44*; 23:71223839-71223839	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.696C>T; p.G232G; 23:71224403-71224403	liver	carcinoma	Substitution - coding silent
c.696C>T; p.G232G; 23:71224403-71224403	liver	carcinoma	Substitution - coding silent
c.623A>G; p.E208G; 23:71224330-71224330	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.123G>T; p.E41D; 23:71223830-71223830	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.477C>A; p.G159G; 23:71224184-71224184	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2T>C; p.M1T; 23:71223709-71223709	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.831C>T; p.S277S; 23:71224538-71224538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.299A>G; p.H100R; 23:71224006-71224006	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.491G>A; p.R164Q; 23:71224198-71224198	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.579C>G; p.F193L; 23:71224286-71224286	liver	carcinoma	Substitution - Missense
c.579C>G; p.F193L; 23:71224286-71224286	liver	carcinoma	Substitution - Missense
c.299A>C; p.H100P; 23:71224006-71224006	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.329G>C; p.G110A; 23:71224036-71224036	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.198C>A; p.D66E; 23:71223905-71223905	liver	carcinoma	Substitution - Missense
c.198C>A; p.D66E; 23:71223905-71223905	liver	carcinoma	Substitution - Missense
c.555C>A; p.T185T; 23:71224262-71224262	ovary	other; neoplasm	Substitution - coding silent
c.121G>T; p.E41*; 23:71223828-71223828	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.325G>T; p.E109*; 23:71224032-71224032	prostate	carcinoma	Substitution - Nonsense
c.132G>T; p.W44C; 23:71223839-71223839	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.808G>A; p.G270R; 23:71224515-71224515	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.30C>T; p.L10L; 23:71223737-71223737	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.358G>A; p.V120M; 23:71224065-71224065	skin	malignant_melanoma	Substitution - Missense
c.406G>T; p.V136F; 23:71224113-71224113	ovary	other; neoplasm	Substitution - Missense
c.490C>T; p.R164W; 23:71224197-71224197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

The somatic mutations from COSMIC database