Entrez Gene

Basic Information
Gene ID	2064
Name	ERBB2
Synonymous	CD340\|HER-2\|HER-2/neu\|HER2\|MLN 19\|NEU\|NGL\|TKR1;v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian);ERBB2;v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)
Definition	c-erb B2/neu protein\|herstatin\|metastatic lymph node gene 19 protein\|neuroblastoma/glioblastoma derived oncogene homolog\|p185erbB2\|proto-oncogene Neu\|proto-oncogene c-ErbB-2\|receptor tyrosine-protein kinase erbB-2\|tyrosine kinase-type cell surface recepto
Position	17q11.2-q12\|17q21.1
Gene Type	protein-coding
Gene Mutation:	PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation

PCGP germline mutation [Top]
	There is no record for ERBB2

Variant (Variant; Chr; Position)	Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin)	Disease (CancerType; ValidationStatus; SequencingType)
PCGP somatic mutation [Top]
ERBB2_L398L; chr17; 37871760	SUB; SILENT; G; G/A; SOMATIC	RHB; PUTATIVE-HQ; EXOME
ERBB2_L398L; chr17; 37871760	SUB; SILENT; G; G/A; SOMATIC	RHB; PUTATIVE-HQ; WGS

Mutation (CDS; AA; Chr)	Site	Histology
COSMIC somatic mutation [Top]
c.929C>T; p.S310F; 17:35121734-35121734	large_intestine	carcinoma; adenocarcinoma
c.2690G>A; p.R897Q;	large_intestine	carcinoma; adenocarcinoma
c.929C>A; p.S310Y;	large_intestine	carcinoma; adenocarcinoma
c.929C>T; p.S310F; 17:35121734-35121734	large_intestine	carcinoma; adenocarcinoma
c.3079C>G; p.Q1027E;	large_intestine	carcinoma; adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; bronchioloalveolar_adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; bronchioloalveolar_adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; bronchioloalveolar_adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; bronchioloalveolar_adenocarcinoma
c.2325_2326ins12; p.A775_G776insYVMA; 17:35134522-35134523	lung	carcinoma; bronchioloalveolar_adenocarcinoma
c.2325_2326ins12; p.A775_G776insYVMA; 17:35134522-35134523	lung	carcinoma; bronchioloalveolar_adenocarcinoma
c.2329G>T; p.V777L; 17:35134526-35134526	lung	carcinoma; adenocarcinoma
c.2263_2264TT>CC; p.L755P; 17:35133745-35133746	lung	carcinoma; bronchioloalveolar_adenocarcinoma
c.2326G>TTAT; p.G776>LC; 17:35134523-35134523	lung; right	carcinoma; adenocarcinoma
c.?; p.S760F;	lung	carcinoma; non_small_cell_carcinoma
c.?; p.P780_Y781insGSP;	lung	carcinoma; adenocarcinoma
c.?; p.G804S;	lung	carcinoma; adenocarcinoma
c.?; p.I829T;	lung	carcinoma; adenocarcinoma
c.58G>A; p.A20T;	lung	carcinoma; squamous_cell_carcinoma
c.?; p.M774_A775insAYVM;	lung	carcinoma; adenocarcinoma
c.2632C>T; p.H878Y; 17:35134966-35134966	liver	carcinoma; hepatocellular_carcinoma
c.2632C>T; p.H878Y; 17:35134966-35134966	liver	carcinoma; hepatocellular_carcinoma
c.2329G>T; p.V777L; 17:35134526-35134526	breast	carcinoma; ER-PR-positive_carcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	ovary	low_malignant_potential_(borderline)_tumour; serous
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	ovary	low_malignant_potential_(borderline)_tumour; serous
c.2305G>C; p.D769H; 17:35133787-35133787	lung	carcinoma; squamous_cell_carcinoma
c.?; p.M774_A775insAYVM;	ovary	carcinoma; serous_carcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2326_2327insTTT; p.G776>VC; 17:35134523-35134524	lung	carcinoma; adenocarcinoma
c.2350C>T; p.R784C; 17:35134547-35134547	lung	carcinoma; non_small_cell_carcinoma
c.1248G>A; p.P416P;	breast	carcinoma; HER-positive_carcinoma
c.926G>A; p.G309E;	breast	carcinoma; HER-positive_carcinoma
c.2541C>T; p.A847A;	breast	carcinoma; HER-positive_carcinoma
c.?; p.G787G;	lung	carcinoma; non_small_cell_carcinoma
c.?; p.L823L;	lung	carcinoma; non_small_cell_carcinoma
c.?; p.E744G;	lung	carcinoma; non_small_cell_carcinoma
c.?; p.N745D;	lung	carcinoma; non_small_cell_carcinoma
c.?; p.T791I;	lung	carcinoma; non_small_cell_carcinoma
c.2301C>G; p.I767M; 17:35133783-35133783	ovary	other; neoplasm
c.3518T>C; p.L1173P;	liver	carcinoma; hepatocellular_carcinoma
c.2326_2327insTTT; p.G776>VC; 17:35134523-35134524	lung	carcinoma; adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.2340_2341insGGCTCCCCA; p.P780_Y781insGSP; 17:35134537-35134538	lung	carcinoma; adenocarcinoma
c.2333_2334insGGG; p.G778_S779insG; 17:35134530-35134531	lung	carcinoma; adenocarcinoma
c.2333_2334insGGG; p.G778_S779insG; 17:35134530-35134531	lung	carcinoma; adenocarcinoma
c.929C>A; p.S310Y;	lung	carcinoma; squamous_cell_carcinoma
c.2379G>A; p.T793T; 17:35134576-35134576	liver	carcinoma; hepatocellular_carcinoma
c.2490C>T; p.A830A; 17:35134687-35134687	pancreas	other; borderline_tumour
c.2325_2326ins12; p.A775_G776insYVMA; 17:35134522-35134523	ovary	low_malignant_potential_(borderline)_tumour; serous
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	ovary	low_malignant_potential_(borderline)_tumour; serous
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	ovary	low_malignant_potential_(borderline)_tumour; serous
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	ovary	low_malignant_potential_(borderline)_tumour; serous
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	ovary	low_malignant_potential_(borderline)_tumour; serous
c.2325_2326ins12; p.A775_G776insYVMA; 17:35134522-35134523	lung	carcinoma
c.2325_2326ins12; p.A775_G776insYVMA; 17:35134522-35134523	lung	carcinoma
c.2325_2326ins12; p.A775_G776insYVMA; 17:35134522-35134523	lung	carcinoma
c.2325_2326ins12; p.A775_G776insYVMA; 17:35134522-35134523	lung	carcinoma
c.2325_2326ins12; p.A775_G776insYVMA; 17:35134522-35134523	lung	carcinoma
c.2335_2336insCTGTGGGCT; p.S779_P780insVGS; 17:35134532-35134533	lung	carcinoma
c.1471C>T; p.Q491*;	skin; arm	malignant_melanoma
c.2301C>G; p.I767M; 17:35133783-35133783	breast	carcinoma; lobular_carcinoma
c.2326_2327insTTT; p.G776>VC; 17:35134523-35134524	lung	carcinoma; adenocarcinoma
c.2342A>G; p.Y781C; 17:35134539-35134539	upper_aerodigestive_tract; head_neck	carcinoma
c.2384A>G; p.Q795R; 17:35134581-35134581	upper_aerodigestive_tract; head_neck	carcinoma
c.2475G>A; p.W825*; 17:35134672-35134672	upper_aerodigestive_tract; head_neck	carcinoma
c.2326_2327insTCT; p.G776>VC; 17:35134523-35134524	lung	carcinoma; adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.2908C>T; p.R970W; 17:35136376-35136376	ovary	carcinoma; mucinous_carcinoma
c.2912A>G; p.E971G; 17:35136380-35136380	ovary	carcinoma; mucinous_carcinoma
c.2326G>CTTT; p.G776>LC; 17:35134523-35134523	lung	carcinoma; adenocarcinoma
c.2339_2340insGGGCTCCCC; p.P780_Y781insGSP; 17:35134536-35134537	lung	carcinoma; adenocarcinoma
c.2146A>G; p.K716E; 17:35133377-35133377	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma
c.?; p.A775_G776insYVMA;	lung	carcinoma; adenocarcinoma
c.?; p.A775_G776insYVMA;	lung	carcinoma; adenocarcinoma
c.?; p.A775_G776insYVMA;	lung	carcinoma; adenocarcinoma
c.?; p.A775_G776insYVMA;	lung	carcinoma; adenocarcinoma
c.?; p.A775_G776insYVMA;	lung	carcinoma; adenocarcinoma
c.?; p.A775_G776insYVMA;	lung	carcinoma; adenocarcinoma
c.?; p.A775_G776insYVMA;	lung	carcinoma; adenocarcinoma
c.?; p.A775_G776insYVMA;	lung	carcinoma; adenocarcinoma
c.?; p.A775_G776insYVMA;	lung; right_lower_lobe	carcinoma; adenocarcinoma
c.?; p.G776L;	lung; right	carcinoma; adenocarcinoma
c.?; p.P780_Y781insGSP;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.929C>T; p.S310F; 17:35121734-35121734	lung	carcinoma; adenocarcinoma
c.2718G>A; p.W906*; 17:35135174-35135174	lung	carcinoma; adenocarcinoma
c.760-1G>A; p.?; 17:35120118-35120118	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	breast	carcinoma; basal_(triple-negative)_carcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	breast	carcinoma; basal_(triple-negative)_carcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	breast	carcinoma_in_situ; ductal_carcinoma_in_situ
c.2606T>G; p.L869R; 17:35134940-35134940	lung	carcinoma; non_small_cell_carcinoma
c.2340_2341insGGCTCCCCA; p.P780_Y781insGSP; 17:35134537-35134538	breast	carcinoma; lobular_carcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2325_2326ins12; p.A775_G776insYVMA; 17:35134522-35134523	lung	carcinoma; adenocarcinoma
c.2326_2327insTGT; p.G776>VC; 17:35134523-35134524	lung	carcinoma; adenocarcinoma
c.2326_2327insTGT; p.G776>VC; 17:35134523-35134524	lung	carcinoma; adenocarcinoma
c.2339_2340insTGGCTCCCC; p.P780_Y781insGSP; 17:35134536-35134537	lung	carcinoma; adenocarcinoma
c.2326G>T; p.G776C; 17:35134523-35134523	lung	carcinoma; adenocarcinoma
c.2331_2332insTGTGGG; p.V777_G778insCG; 17:35134528-35134529	lung	carcinoma; adenocarcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	lung	carcinoma; adenocarcinoma
c.?; p.L755S;	breast	carcinoma
c.?; p.M774_A775insAYVM;	lung	carcinoma; adenocarcinoma
c.?; p.L49H;	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.G776_V777insVC;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.?; p.(A775)ins?;	lung	carcinoma; adenocarcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	breast	carcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	breast	carcinoma
c.?; p.V842I;	ovary	carcinoma; clear_cell_carcinoma
c.?; p.S310F;	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma
c.1459C>T; p.R487W;	NS	malignant_melanoma
c.1459C>T; p.R487W;	NS	malignant_melanoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.?; p.A775G;	lung	carcinoma; adenocarcinoma
c.?; p.A775G;	lung	carcinoma; adenocarcinoma
c.2524G>A; p.V842I; 17:35134858-35134858	breast	carcinoma; lobular_carcinoma
c.929C>T; p.S310F; 17:35121734-35121734	breast	carcinoma; lobular_carcinoma
c.2340_2341insGGCTCCCCA; p.P780_Y781insGSP; 17:35134537-35134538	lung	carcinoma; adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.2325_2326ins12; p.A775_G776insYVMA; 17:35134522-35134523	lung	carcinoma; adenocarcinoma
c.3166G>A; p.G1056S;	large_intestine; colon	carcinoma; adenocarcinoma
c.2263T>A; p.L755M;	large_intestine; colon	carcinoma; adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	breast	carcinoma; lobular_carcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.3457C>T; p.R1153*;	breast	carcinoma; lobular_carcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	breast	carcinoma; lobular_carcinoma
c.2033G>A; p.R678Q;	stomach	carcinoma; adenocarcinoma
c.2172G>T; p.K724N; 17:35133403-35133403	stomach	carcinoma; adenocarcinoma
c.2198C>T; p.T733I; 17:35133429-35133429	stomach	carcinoma; adenocarcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	stomach	carcinoma; adenocarcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	stomach	carcinoma; adenocarcinoma
c.2305G>C; p.D769H; 17:35133787-35133787	stomach	carcinoma; adenocarcinoma
c.2396A>C; p.Q799P; 17:35134593-35134593	stomach	carcinoma; adenocarcinoma
c.2329G>T; p.V777L; 17:35134526-35134526	stomach	carcinoma; adenocarcinoma
c.2329G>T; p.V777L; 17:35134526-35134526	stomach	carcinoma; adenocarcinoma
c.2606T>A; p.L869Q; 17:35134940-35134940	stomach	carcinoma; adenocarcinoma
c.2329G>T; p.V777L; 17:35134526-35134526	large_intestine; rectum	carcinoma; adenocarcinoma
c.2329G>A; p.V777M; 17:35134526-35134526	large_intestine; rectum	carcinoma; adenocarcinoma
c.2524G>A; p.V842I; 17:35134858-35134858	large_intestine; rectum	carcinoma; adenocarcinoma
c.2263_2278>G; p.L755_S760>A; 17:35133745-35133760	breast	carcinoma; ductal_carcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	breast	carcinoma; ductal_carcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	breast	carcinoma; ductal_carcinoma
c.2686C>T; p.R896C; 17:35135142-35135142	breast	carcinoma; ductal_carcinoma
c.2318T>C; p.V773A; 17:35134515-35134515	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma
c.2524G>A; p.V842I; 17:35134858-35134858	stomach	carcinoma; intestinal_adenocarcinoma
c.?; p.G776>VC;	lung	carcinoma; bronchioloalveolar_adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.2326G>TTGT; p.G776>LC; 17:35134523-35134523	lung	carcinoma; adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.1514-7A>G; p.?;	breast	carcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	large_intestine	carcinoma; adenocarcinoma
c.2263T>C; p.L755L;	large_intestine	carcinoma; adenocarcinoma
c.1738-10delc; p.?;	large_intestine	carcinoma; adenocarcinoma
c.1076C>T; p.A359V;	large_intestine	carcinoma; adenocarcinoma
c.2085+8G>A; p.?;	large_intestine	carcinoma; adenocarcinoma
c.3165C>T; p.G1055G;	large_intestine	carcinoma; adenocarcinoma
c.1738-10_1738-9insC; p.?;	large_intestine	carcinoma; adenocarcinoma
c.760-2A>G; p.?;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2697C>A; p.F899L;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma
c.3391delC; p.L1131fs*1;	prostate	carcinoma
c.2305G>T; p.D769Y;	oesophagus	carcinoma; adenocarcinoma
c.3235G>A; p.E1079K;	oesophagus	carcinoma; adenocarcinoma
c.2145G>T; p.L715L;	oesophagus	carcinoma; adenocarcinoma
c.3115G>A; p.A1039T;	oesophagus; lower_third	carcinoma; adenocarcinoma
c.2327G>T; p.G776V; 17:35134524-35134524	oesophagus	carcinoma; adenocarcinoma
c.2305G>T; p.D769Y;	oesophagus	carcinoma; adenocarcinoma
c.2238G>A; p.V746V;	oesophagus	carcinoma; adenocarcinoma
c.2584A>G; p.T862A; 17:35134918-35134918	stomach	carcinoma; diffuse_adenocarcinoma
c.274A>G; p.R92G;	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma
c.3173A>C; p.D1058A;	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma
c.1744G>A; p.D582N;	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma
c.2670G>A; p.A890A;	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma
c.3524C>G; p.P1175R;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1757C>G; p.A586G;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2326_2327insTGT; p.G776>VC; 17:35134523-35134524	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2326_2327insTGT; p.G776>VC; 17:35134523-35134524	lung	carcinoma; adenocarcinoma
c.2324_2325ins12; p.A775_G776insYVMA; 17:35134521-35134522	lung	carcinoma; adenocarcinoma
c.2914T>C; p.L972L;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.929C>T; p.S310F; 17:35121734-35121734	lung	carcinoma; adenocarcinoma
c.1693C>T; p.P565S;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma
c.2310_2311ins12; p.E770_A771insAYVM;	lung	carcinoma; adenocarcinoma
c.1253G>C; p.S418T;	lung	carcinoma; adenocarcinoma
c.2827C>T; p.Q943*;	lung	carcinoma; adenocarcinoma
c.2310_2311ins12; p.E770_A771insAYVM;	lung	carcinoma; adenocarcinoma
c.1684C>T; p.P562S;	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma
c.457delG; p.V153fs*2;	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome
c.2329G>T; p.V777L; 17:35134526-35134526	large_intestine; colon	adenoma
c.650G>A; p.R217H;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2550C>T; p.N850N;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1306C>G; p.L436V;	stomach	carcinoma
c.2327G>T; p.G776V; 17:35134524-35134524	ovary	carcinoma
c.2326_2327insTGT; p.G776>VC; 17:35134523-35134524	lung	carcinoma; adenocarcinoma
c.2327G>T; p.G776V; 17:35134524-35134524	ovary	carcinoma
c.2036A>T; p.Q679L;	pancreas	carcinoma; ductal_carcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.2263_2264TT>CC; p.L755P; 17:35133745-35133746	lung	carcinoma; bronchioloalveolar_adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.2335_2336insCTGTGGGCT; p.S779_P780insVGS; 17:35134532-35134533	lung	carcinoma; adenocarcinoma
c.2570A>G; p.N857S; 17:35134904-35134904	ovary	carcinoma; serous_carcinoma
c.2570A>G; p.N857S; 17:35134904-35134904	ovary	carcinoma; serous_carcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.2322_2323ins12; p.A775_G776insYVMA; 17:35134519-35134520	lung	carcinoma; adenocarcinoma
c.2326G>A; p.G776S; 17:35134523-35134523	stomach	carcinoma; adenocarcinoma
c.2326G>A; p.G776S; 17:35134523-35134523	stomach	carcinoma; adenocarcinoma
c.2740G>A; p.E914K; 17:35135500-35135500	central_nervous_system; brain	glioma
c.2740G>A; p.E914K; 17:35135500-35135500	central_nervous_system; brain	glioma
c.2339_2340insGGGCTCCCC; p.P780_Y781insGSP; 17:35134536-35134537	NS	NS
c.2680A>C; p.I894L;	prostate	carcinoma
c.1931C>T; p.A644V;	lung	carcinoma; small_cell_carcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	stomach	carcinoma; undifferentiated_adenocarcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	stomach	carcinoma; intestinal_adenocarcinoma
c.2504A>T; p.Y835F;	breast	carcinoma; basal_(triple-negative)_carcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	breast	carcinoma; basal_(triple-negative)_carcinoma
c.929C>T; p.S310F; 17:35121734-35121734	breast	carcinoma; basal_(triple-negative)_carcinoma
c.760-10G>A; p.?;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.1051C>T; p.R351*;	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia
c.2706G>C; p.Q902H;	prostate	adenoma
c.646A>T; p.T216S; 17:35119867-35119867	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2330T>C; p.V777A; 17:35134527-35134527	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.949C>T; p.L317L; 17:35121754-35121754	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.146T>A; p.L49H; 17:35116841-35116841	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.931T>C; p.C311R; 17:35121736-35121736	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.962A>G; p.E321G; 17:35121767-35121767	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1896C>T; p.H632H; 17:35127257-35127257	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2249T>A; p.V750E; 17:35133731-35133731	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2330T>C; p.V777A; 17:35134527-35134527	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.977A>G; p.D326G; 17:35121782-35121782	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.1000T>A; p.C334S; 17:35121805-35121805	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.225+2T>A; p.?; 17:35116922-35116922	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.955A>G; p.N319D; 17:35121760-35121760	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.918G>A; p.T306T; 17:35121723-35121723	central_nervous_system; brain	glioma; astrocytoma_Grade_IV
c.2461G>T; p.D821Y;	ovary	carcinoma; serous_carcinoma
c.1899-2A>T; p.?;	lung	carcinoma; adenocarcinoma
c.2687G>A; p.R896H;	ovary	carcinoma; serous_carcinoma
c.929C>T; p.S310F; 17:35121734-35121734	ovary	carcinoma; serous_carcinoma
c.2567C>G; p.P856R;	ovary	carcinoma; serous_carcinoma
c.3061G>C; p.E1021Q;	lung	carcinoma; squamous_cell_carcinoma
c.922G>A; p.V308M;	lung	carcinoma; adenocarcinoma
c.365C>T; p.P122L;	lung	carcinoma; squamous_cell_carcinoma
c.929C>T; p.S310F; 17:35121734-35121734	lung	carcinoma; adenocarcinoma
c.291G>A; p.Q97Q;	lung	carcinoma; adenocarcinoma
c.900C>T; p.P300P;	lung	carcinoma; squamous_cell_carcinoma
c.474C>T; p.N158N;	lung	carcinoma; adenocarcinoma
c.1203G>A; p.E401E;	lung; right_upper_lobe	carcinoma; adenocarcinoma
c.2033G>A; p.R678Q;	breast	carcinoma
c.3341A>G; p.E1114G;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.1946G>C; p.S649T;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.646A>G; p.T216A;	large_intestine; colon	carcinoma; adenocarcinoma
c.962A>G; p.E321G; 17:35121767-35121767	large_intestine; caecum	carcinoma; adenocarcinoma
c.1956G>T; p.T652T;	breast	carcinoma
c.926G>C; p.G309A;	breast	carcinoma
c.2524G>A; p.V842I; 17:35134858-35134858	breast	carcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	breast	carcinoma
c.3381C>T; p.Y1127Y;	large_intestine; colon	carcinoma; adenocarcinoma
c.2033G>A; p.R678Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.2691G>A; p.R897R;	large_intestine; colon	carcinoma; adenocarcinoma
c.931T>A; p.C311S;	large_intestine; colon	carcinoma; adenocarcinoma
c.788T>C; p.I263T;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	large_intestine; caecum	carcinoma; adenocarcinoma
c.3656A>G; p.N1219S;	large_intestine; colon	carcinoma; adenocarcinoma
c.1396G>A; p.A466T;	large_intestine; colon	carcinoma; adenocarcinoma
c.2329G>T; p.V777L; 17:35134526-35134526	large_intestine; colon	carcinoma; adenocarcinoma
c.2524G>A; p.V842I; 17:35134858-35134858	large_intestine; colon	carcinoma; adenocarcinoma
c.3399C>T; p.C1133C;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2912A>G; p.E971G; 17:35136380-35136380	large_intestine; rectum	NS
c.2524G>A; p.V842I; 17:35134858-35134858	large_intestine; rectum	NS
c.2089G>T; p.V697L;	large_intestine; rectum	carcinoma; adenocarcinoma
c.2524G>A; p.V842I; 17:35134858-35134858	large_intestine; rectum	carcinoma; adenocarcinoma
c.2524G>A; p.V842I; 17:35134858-35134858	large_intestine; rectum	carcinoma; adenocarcinoma
c.591G>A; p.P197P;	large_intestine; rectum	carcinoma; adenocarcinoma
c.2602C>T; p.R868W;	large_intestine; rectum	carcinoma; adenocarcinoma
c.2686C>T; p.R896C; 17:35135142-35135142	large_intestine; rectum	carcinoma; adenocarcinoma
c.2327G>T; p.G776V; 17:35134524-35134524	large_intestine; rectum	carcinoma; adenocarcinoma
c.3732G>T; p.E1244D;	endometrium	carcinoma; endometrioid_carcinoma
c.1988T>C; p.L663P;	endometrium	carcinoma; endometrioid_carcinoma
c.3238G>T; p.G1080W;	endometrium	carcinoma; endometrioid_carcinoma
c.302T>G; p.I101S;	endometrium	carcinoma; endometrioid_carcinoma
c.955A>G; p.N319D; 17:35121760-35121760	large_intestine; colon	carcinoma; adenocarcinoma
c.2909G>T; p.R970L;	large_intestine; caecum	carcinoma; adenocarcinoma
c.146T>C; p.L49P;	large_intestine; colon	carcinoma; adenocarcinoma
c.1970C>T; p.A657V;	large_intestine; colon	carcinoma; adenocarcinoma
c.2844C>A; p.T948T;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.655G>A; p.V219I;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.469C>T; p.R157W;	endometrium	carcinoma; endometrioid_carcinoma
c.2115G>A; p.A705A;	endometrium	carcinoma; endometrioid_carcinoma
c.2033G>A; p.R678Q;	endometrium	carcinoma; endometrioid_carcinoma
c.3481C>A; p.R1161R;	kidney	carcinoma; clear_cell_renal_cell_carcinoma
c.2329G>C; p.V777L;	breast	carcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	breast	carcinoma
c.3173A>C; p.D1058A;	breast	carcinoma
c.2305G>T; p.D769Y;	breast	carcinoma
c.591G>A; p.P197P;	endometrium	carcinoma; endometrioid_carcinoma
c.2251G>A; p.A751T;	endometrium	carcinoma; endometrioid_carcinoma
c.2592C>T; p.F864F;	endometrium	carcinoma; endometrioid_carcinoma
c.3730G>C; p.E1244Q;	urinary_tract; bladder	carcinoma
c.1718C>T; p.S573L;	urinary_tract; bladder	carcinoma
c.2305G>C; p.D769H; 17:35133787-35133787	breast	carcinoma
c.2301C>G; p.I767M; 17:35133783-35133783	breast	carcinoma
c.3173A>C; p.D1058A;	prostate	carcinoma; adenocarcinoma
c.2912A>G; p.E971G; 17:35136380-35136380	large_intestine; colon	carcinoma; adenocarcinoma
c.2687G>A; p.R896H;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2450T>C; p.L817P;	large_intestine; colon	carcinoma; adenocarcinoma
c.2991C>A; p.A997A;	large_intestine; caecum	carcinoma; adenocarcinoma
c.3679C>T; p.P1227S;	large_intestine; colon	carcinoma; adenocarcinoma
c.2063G>A; p.R688Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.2384A>T; p.Q795L;	large_intestine; caecum	carcinoma; adenocarcinoma
c.2524G>A; p.V842I; 17:35134858-35134858	endometrium	carcinoma; endometrioid_carcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	endometrium	carcinoma; endometrioid_carcinoma
c.2524G>A; p.V842I; 17:35134858-35134858	endometrium	carcinoma; endometrioid_carcinoma
c.2690G>A; p.R897Q;	endometrium	carcinoma; endometrioid_carcinoma
c.2351G>T; p.R784L;	large_intestine; colon	carcinoma; adenocarcinoma
c.2909G>T; p.R970L;	large_intestine; colon	carcinoma; adenocarcinoma
c.2171A>G; p.K724R;	large_intestine; colon	carcinoma; adenocarcinoma
c.2264T>C; p.L755S; 17:35133746-35133746	breast	carcinoma
c.929C>T; p.S310F; 17:35121734-35121734	urinary_tract; bladder	carcinoma
c.937C>G; p.L313V;	urinary_tract; bladder	carcinoma
c.2305G>A; p.D769N;	urinary_tract; bladder	carcinoma
c.2198C>T; p.T733I; 17:35133429-35133429	urinary_tract; bladder	carcinoma
c.2115G>A; p.A705A;	urinary_tract; bladder	carcinoma
c.2912A>G; p.E971G; 17:35136380-35136380	large_intestine; caecum	carcinoma; adenocarcinoma
c.2305G>T; p.D769Y;	breast	carcinoma
c.1410T>G; p.H470Q;	breast	carcinoma
c.428G>A; p.R143Q;	large_intestine; colon	carcinoma; adenocarcinoma
c.318G>A; p.Q106Q;	large_intestine; caecum	carcinoma; adenocarcinoma
c.928T>C; p.S310P;	large_intestine; rectum	carcinoma; adenocarcinoma
c.2397G>T; p.Q799H;	large_intestine; colon	carcinoma; adenocarcinoma
c.2908C>T; p.R970W; 17:35136376-35136376	large_intestine; colon	carcinoma; adenocarcinoma
c.2343T>C; p.Y781Y;	prostate	carcinoma; adenocarcinoma
c.921C>T; p.D307D;	urinary_tract; bladder	carcinoma
c.2669C>T; p.A890V;	prostate	carcinoma
c.1459C>T; p.R487W;	skin	malignant_melanoma
c.3628C>T; p.P1210S;	skin	malignant_melanoma
c.1132C>T; p.P378S;	skin	malignant_melanoma
c.929C>T; p.S310F; 17:35121734-35121734	stomach	adenocarcinoma
c.2033G>A; p.R678Q;	stomach	adenocarcinoma

PCGP germline mutation [Top]

PCGP somatic mutation [Top]

COSMIC somatic mutation [Top]