| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 5243 |
Name | ABCB1 |
Synonymous | ABC20|CD243|CLCS|GP170|MDR1|P-GP|PGY1;ATP-binding cassette, sub-family B (MDR/TAP), member 1;ABCB1;ATP-binding cassette, sub-family B (MDR/TAP), member 1 |
Definition | P-glycoprotein 1|colchicin sensitivity|doxorubicin resistance|multidrug resistance protein 1 |
Position | 7q21.12 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for ABCB1 | ||
PCGP somatic mutation [Top] | ||
There is no record for ABCB1 | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.2634G>T; p.M878I; |
lung | carcinoma; small_cell_carcinoma |
c.1855A>G; p.K619E; |
lung | carcinoma; small_cell_carcinoma |
c.1990A>G; p.R664G; |
NS | malignant_melanoma |
c.1990A>G; p.R664G; |
NS | malignant_melanoma |
c.53A>C; p.K18T; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.1379C>A; p.T460N; |
lung | carcinoma; small_cell_carcinoma |
c.766G>T; p.E256*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3796A>G; p.I1266V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2275T>C; p.F759L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3228G>T; p.K1076N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1840G>T; p.E614*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1005C>A; p.F335L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.785G>T; p.R262I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.857G>T; p.R286I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1137G>A; p.S379S; |
pancreas | carcinoma |
c.3800A>G; p.Y1267C; |
lung | carcinoma |
c.748G>A; p.A250T; 7:87028594-87028594 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.485G>A; p.W162*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.3117A>C; p.E1039D; |
oesophagus | carcinoma; adenocarcinoma |
c.3182A>G; p.K1061R; |
oesophagus | carcinoma; adenocarcinoma |
c.2744A>G; p.K915R; |
oesophagus | carcinoma; adenocarcinoma |
c.2528T>G; p.L843R; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.2744A>C; p.K915T; |
oesophagus; lower_third | carcinoma; adenocarcinoma |
c.1788C>T; p.D596D; |
oesophagus | carcinoma; adenocarcinoma |
c.3194C>T; p.T1065M; |
oesophagus | carcinoma; adenocarcinoma |
c.2974A>G; p.S992G; |
oesophagus | carcinoma; adenocarcinoma |
c.2065-1G>T; p.?; |
oesophagus | carcinoma; adenocarcinoma |
c.1994A>G; p.K665R; |
oesophagus | carcinoma; adenocarcinoma |
c.3107C>T; p.T1036I; |
lung | carcinoma; small_cell_carcinoma |
c.1847T>C; p.M616T; |
liver | carcinoma |
c.3842G>T; p.*1281L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3596T>C; p.L1199S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1176G>T; p.L392F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.847G>T; p.E283*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2280A>T; p.L760L; |
liver | carcinoma |
c.2995G>A; p.A999T; |
large_intestine; colon | carcinoma |
c.1137G>A; p.S379S; |
pancreas | carcinoma; ductal_carcinoma |
c.34_36delAAG; p.K14delK; |
ovary | carcinoma |
c.1471G>A; p.G491S; |
skin; arm | malignant_melanoma |
c.3327C>T; p.L1109L; |
skin; leg | malignant_melanoma; superficial_spreading |
c.2855C>T; p.S952F; |
skin; trunk | malignant_melanoma; nodular |
c.304G>C; p.G102R; |
lung | carcinoma; adenocarcinoma |
c.2987C>T; p.P996L; |
lung | carcinoma; adenocarcinoma |
c.2759A>G; p.Y920C; |
lung | carcinoma; adenocarcinoma |
c.572G>T; p.G191V; |
lung | carcinoma; adenocarcinoma |
c.1337C>A; p.P446H; |
lung | carcinoma; adenocarcinoma |
c.2397+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.2681G>C; p.G894A; |
lung | carcinoma; adenocarcinoma |
c.1399C>A; p.R467R; |
lung | carcinoma; adenocarcinoma |
c.2807A>G; p.H936R; |
lung | carcinoma; adenocarcinoma |
c.164C>G; p.T55S; |
lung | carcinoma; adenocarcinoma |
c.3430G>C; p.E1144Q; |
lung | carcinoma; adenocarcinoma |
c.3143C>T; p.P1048L; |
lung | carcinoma; adenocarcinoma |
c.2269C>A; p.L757I; |
lung | carcinoma; adenocarcinoma |
c.2245C>T; p.R749*; 7:87008683-87008683 |
lung | carcinoma; adenocarcinoma |
c.1656C>A; p.L552L; |
lung | carcinoma; adenocarcinoma |
c.3226A>G; p.K1076E; |
lung | carcinoma; adenocarcinoma |
c.470G>T; p.R157L; |
lung | carcinoma; adenocarcinoma |
c.2864G>T; p.G955V; |
lung | carcinoma; adenocarcinoma |
c.3019C>A; p.H1007N; |
lung | carcinoma; adenocarcinoma |
c.2896C>A; p.H966N; |
lung | carcinoma; adenocarcinoma |
c.1720G>C; p.D574H; |
lung | carcinoma; adenocarcinoma |
c.3533G>T; p.G1178V; |
lung | carcinoma; adenocarcinoma |
c.1025delC; p.A342fs*27; |
lung | carcinoma; adenocarcinoma |
c.2678C>A; p.S893Y; |
lung | carcinoma; adenocarcinoma |
c.1399C>T; p.R467W; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.3355G>A; p.E1119K; |
skin; extremity | malignant_melanoma |
c.1106T>C; p.I369T; |
skin; extremity | malignant_melanoma |
c.1371T>A; p.D457E; |
NS | malignant_melanoma |
c.2661G>T; p.K887N; 7:86998570-86998570 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1399C>T; p.R467W; |
prostate | carcinoma |
c.1614G>T; p.R538S; |
breast | carcinoma |
c.703-1G>C; p.?; |
breast | carcinoma |
c.1568T>A; p.L523Q; |
prostate | carcinoma |
c.661A>G; p.I221V; |
liver | carcinoma |
c.1051A>G; p.S351G; |
liver | carcinoma |
c.3496A>T; p.S1166C; |
lung | carcinoma; small_cell_carcinoma |
c.2102T>G; p.M701R; |
breast | carcinoma; ductal_carcinoma |
c.3649G>A; p.A1217T; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia |
c.61A>G; p.N21D; |
prostate | adenoma |
c.1137G>A; p.S379S; |
endometrium | carcinoma; serous_carcinoma |
c.961G>C; p.V321L; |
autonomic_ganglia | neuroblastoma |
c.3557T>C; p.I1186T; |
lung | carcinoma; adenocarcinoma |
c.696G>T; p.W232C; |
lung | carcinoma; adenocarcinoma |
c.771C>A; p.V257V; |
lung | carcinoma; adenocarcinoma |
c.1136C>A; p.S379*; |
lung | carcinoma; adenocarcinoma |
c.2245C>T; p.R749*; 7:87008683-87008683 |
ovary | carcinoma; serous_carcinoma |
c.3147C>T; p.D1049D; 7:86982618-86982618 |
ovary | carcinoma; serous_carcinoma |
c.3253C>T; p.R1085W; 7:86982512-86982512 |
ovary | carcinoma; serous_carcinoma |
c.2855C>T; p.S952F; |
lung | carcinoma; squamous_cell_carcinoma |
c.862G>T; p.G288W; |
lung | carcinoma; squamous_cell_carcinoma |
c.443G>C; p.R148T; |
lung | carcinoma; squamous_cell_carcinoma |
c.2165G>T; p.G722V; 7:87011427-87011427 |
ovary | carcinoma; serous_carcinoma |
c.2170C>A; p.L724M; |
ovary | carcinoma; serous_carcinoma |
c.3213C>A; p.S1071R; |
ovary | carcinoma; serous_carcinoma |
c.745A>G; p.K249E; |
lung | carcinoma; squamous_cell_carcinoma |
c.893C>G; p.S298C; |
lung | carcinoma; squamous_cell_carcinoma |
c.2717C>A; p.T906N; |
lung | carcinoma; squamous_cell_carcinoma |
c.1294G>A; p.G432R; |
lung | carcinoma; adenocarcinoma |
c.2020G>T; p.G674*; |
lung | carcinoma; squamous_cell_carcinoma |
c.2279T>C; p.L760P; |
lung | carcinoma; squamous_cell_carcinoma |
c.1446C>A; p.T482T; |
lung | carcinoma; adenocarcinoma |
c.3231C>A; p.S1077R; |
lung | carcinoma; adenocarcinoma |
c.1144G>A; p.G382R; |
lung | carcinoma; adenocarcinoma |
c.2684A>T; p.K895M; |
lung | carcinoma; adenocarcinoma |
c.2005C>G; p.R669G; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2920G>T; p.V974F; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.805G>A; p.G269R; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3073G>T; p.G1025C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.382G>T; p.A128S; |
lung | carcinoma; squamous_cell_carcinoma |
c.755C>A; p.A252E; |
lung | carcinoma; adenocarcinoma |
c.3764G>T; p.G1255V; |
lung | carcinoma; adenocarcinoma |
c.1786G>C; p.D596H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.308T>A; p.F103Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3055G>T; p.D1019Y; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2522C>A; p.A841E; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2577G>A; p.L859L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.749C>A; p.A250D; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.579C>G; p.F193L; |
lung | carcinoma; squamous_cell_carcinoma |
c.763G>C; p.E255Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.1999T>A; p.S667T; |
lung | carcinoma; squamous_cell_carcinoma |
c.1301G>T; p.S434I; |
lung | carcinoma; squamous_cell_carcinoma |
c.2222G>T; p.R741I; |
lung | carcinoma; squamous_cell_carcinoma |
c.493G>A; p.V165M; |
lung | carcinoma; squamous_cell_carcinoma |
c.2021G>C; p.G674A; |
lung | carcinoma; squamous_cell_carcinoma |
c.2695G>A; p.E899K; |
lung | carcinoma; squamous_cell_carcinoma |
c.1555-1G>A; p.?; |
lung | carcinoma; squamous_cell_carcinoma |
c.3523C>T; p.Q1175*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1980C>A; p.S660S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.3827G>C; p.G1276A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2359C>T; p.R787W; |
lung | carcinoma; adenocarcinoma |
c.2397+1G>T; p.?; |
lung | carcinoma; adenocarcinoma |
c.325G>T; p.E109*; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.304G>T; p.G102W; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.122G>T; p.R41L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1475G>T; p.R492L; |
lung | carcinoma; adenocarcinoma |
c.2501C>T; p.A834V; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.2966G>A; p.G989E; |
breast | carcinoma |
c.3609G>A; p.T1203T; |
breast | carcinoma |
c.1812A>G; p.G604G; |
breast | carcinoma |
c.2556C>A; p.I852I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1581_1582delAG; p.A529fs*27; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3226A>G; p.K1076E; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2296T>A; p.S766T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.102C>T; p.V34V; |
breast | carcinoma |
c.1211G>A; p.R404Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2961C>T; p.A987A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.880A>G; p.T294A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3751G>A; p.V1251I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1608G>A; p.K536K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3104T>C; p.V1035A; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.36G>T; p.K12N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1092A>C; p.E364D; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2365C>T; p.R789*; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2428A>G; p.T810A; |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.3674G>A; p.R1225H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1790T>C; p.V597A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1519G>A; p.A507T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2398G>T; p.D800Y; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2704G>T; p.E902*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.857G>T; p.R286I; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3644A>G; p.Q1215R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.1852G>C; p.E618Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1251G>A; p.V417V; |
breast | carcinoma |
c.1466G>A; p.R489H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2135T>C; p.V712A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1137G>A; p.S379S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1603C>T; p.Q535*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.918C>A; p.I306I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.806G>A; p.G269E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1628G>A; p.R543H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2674G>T; p.G892C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2320G>A; p.G774S; |
breast | carcinoma |
c.602delT; p.F201fs*5; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2615G>T; p.G872V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2288G>T; p.G763V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1932C>A; p.S644S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1035T>C; p.V345V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.817G>T; p.E273*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.100G>A; p.V34I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1095C>A; p.I365I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.817G>T; p.E273*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.118-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2263T>C; p.F755L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.42G>T; p.K14N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2521G>A; p.A841T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2191A>C; p.I731L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.689C>T; p.A230V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2166A>G; p.G722G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.184G>A; p.G62R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.548A>G; p.N183S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2413G>A; p.D805N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1368G>T; p.Q456H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2920G>T; p.V974F; |
endometrium | carcinoma; endometrioid_carcinoma |
c.836A>C; p.K279T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1803C>T; p.F601F; |
breast | carcinoma |
c.1561G>C; p.D521H; |
breast | carcinoma |
c.1175T>C; p.L392S; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1140G>T; p.K380N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1784C>G; p.A595G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.3244C>A; p.L1082I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.122G>A; p.R41H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1399C>T; p.R467W; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1725+1G>C; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2816G>C; p.G939A; |
breast | carcinoma |
c.974A>G; p.E325G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.913C>T; p.L305L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.287-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2374G>A; p.V792I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1991G>T; p.R664I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1066G>T; p.A356S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.991G>T; p.V331L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.42G>T; p.K14N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1480A>C; p.N494H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.817G>T; p.E273*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.703-1G>T; p.?; |
endometrium | carcinoma; endometrioid_carcinoma |
c.301A>G; p.T101A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.75A>G; p.K25K; |
breast | carcinoma |
c.3628A>C; p.S1210R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.857G>T; p.R286I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2659A>G; p.K887E; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3146A>G; p.D1049G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1292G>A; p.C431Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.117G>T; p.M39I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.421G>T; p.G141*; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.828-1G>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.525T>C; p.L175L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1811G>A; p.G604E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.469C>T; p.R157*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2088C>A; p.S696S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1465C>T; p.R489C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.284G>T; p.R95I; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2455G>A; p.A819T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1542G>A; p.M514I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3041A>G; p.K1014R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1553A>G; p.H518R; |
endometrium | carcinoma; endometrioid_carcinoma |
c.44A>G; p.N15S; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2246G>T; p.R749L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.750T>C; p.A250A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.663C>T; p.I221I; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2413G>T; p.D805Y; |
urinary_tract; bladder | carcinoma |
c.2742G>T; p.Q914H; |
urinary_tract; bladder | carcinoma |
c.2041A>G; p.K681E; |
urinary_tract; bladder | carcinoma |
c.1108G>C; p.D370H; |
urinary_tract; bladder | carcinoma |
c.3043A>T; p.T1015S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1972T>C; p.S658P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.42_44delGAA; p.K14delK; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.122G>A; p.R41H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1399C>T; p.R467W; |
prostate | carcinoma; adenocarcinoma |
c.3487A>G; p.N1163D; |
prostate | carcinoma; adenocarcinoma |
c.3673C>T; p.R1225C; |
prostate | carcinoma |
c.1752G>A; p.V584V; |
prostate | carcinoma |
c.3518G>A; p.G1173E; |
skin | malignant_melanoma |
c.3793G>A; p.G1265S; |
skin | malignant_melanoma |
c.121C>T; p.R41C; |
skin | malignant_melanoma |
c.1829G>A; p.G610E; |
skin | malignant_melanoma |
c.3601G>A; p.E1201K; |
skin | malignant_melanoma |
c.184G>A; p.G62R; |
skin | malignant_melanoma |
c.2702T>A; p.I901K; |
skin; mucosal | malignant_melanoma |
c.602_603TC>AT; p.F201Y; |
skin; scalp | carcinoma; squamous_cell_carcinoma |
c.318T>G; p.N106K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2246G>A; p.R749Q; |
stomach | adenocarcinoma |
c.339-4delt; p.?; |
stomach | adenocarcinoma |