| Gene ID | 117 |
| Symbol | ADCYAP1R1 |
| Synonymous | PAC1|PAC1R|PACAPR|PACAPRI |
| Full name | adenylate cyclase activating polypeptide 1 (pituitary) receptor type I |
| Gene description | PACAP receptor 1|PACAP type I receptor|PACAP-R1|pituitary adenylate cyclase activating polypeptide 1 receptor type I Hiphop|pituitary adenylate cyclase-activating polypeptide type I receptor |
| Cytoband | 7p14 |
| Gene type | protein-coding |
| Synonymous | MIM:102981; HGNC:HGNC:242; Ensembl:ENSG00000078549; HPRD:00045; Vega:OTTHUMG00000023884 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.382C>T; p.P128S; 7:31084194-31084194 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.286+2T>A; p.?; 7:31080635-31080635 |
ovary | other; neoplasm | Unknown |
c.286+2T>A; p.?; 7:31080635-31080635 |
ovary | other; neoplasm | Unknown |
c.192G>A; p.W64*; 7:31078025-31078025 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1115C>T; p.S372F; 7:31103305-31103305 |
skin | malignant_melanoma | Substitution - Missense |
c.545A>T; p.H182L; 7:31085318-31085318 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1153G>C; p.E385Q; 7:31103343-31103343 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.492C>A; p.S164S; 7:31084790-31084790 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.289G>T; p.E97*; 7:31081715-31081715 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.51+1G>A; p.?; 7:31063316-31063316 |
skin | malignant_melanoma | Unknown |
c.857C>T; p.T286M; 7:31086976-31086976 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.857C>T; p.T286M; 7:31086976-31086976 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.857C>T; p.T286M; 7:31086976-31086976 |
pancreas | carcinoma | Substitution - Missense |
c.1170C>T; p.S390S; 7:31103360-31103360 |
skin; arm | malignant_melanoma | Substitution - coding silent |
c.636G>A; p.A212A; 7:31085409-31085409 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.666C>T; p.S222S; 7:31085439-31085439 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1284C>G; p.F428L; 7:31106561-31106561 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.962T>G; p.F321C; 7:31092651-31092651 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1314T>G; p.S438R; 7:31106591-31106591 |
skin | malignant_melanoma | Substitution - Missense |
c.166G>T; p.G56W; 7:31077999-31077999 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.739G>A; p.E247K; 7:31086453-31086453 |
skin | malignant_melanoma | Substitution - Missense |
c.607G>A; p.V203I; 7:31085380-31085380 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.436C>G; p.Q146E; 7:31084248-31084248 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.557A>C; p.N186T; 7:31085330-31085330 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm | Substitution - Missense |
c.790A>G; p.R264G; 7:31086504-31086504 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.315C>T; p.S105S; 7:31081741-31081741 |
skin | malignant_melanoma | Substitution - coding silent |
c.554G>A; p.R185H; 7:31085327-31085327 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.554G>A; p.R185H; 7:31085327-31085327 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1065C>G; p.T355T; 7:31103255-31103255 |
lung | carcinoma; small_cell_carcinoma | Substitution - coding silent |
c.599C>T; p.A200V; 7:31085372-31085372 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.777C>T; p.F259F; 7:31086491-31086491 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.777C>T; p.F259F; 7:31086491-31086491 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.511G>A; p.A171T; 7:31084809-31084809 |
liver | carcinoma | Substitution - Missense |
c.227G>T; p.S76I; 7:31078060-31078060 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.588C>T; p.F196F; 7:31085361-31085361 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.459G>A; p.V153V; 7:31084757-31084757 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.357G>A; p.T119T; 7:31084169-31084169 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.293C>G; p.S98C; 7:31081719-31081719 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.930A>C; p.K310N; 7:31087672-31087672 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.24C>T; p.S8S; 7:31063288-31063288 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1086C>T; p.F362F; 7:31103276-31103276 |
skin | malignant_melanoma | Substitution - coding silent |
c.624G>T; p.W208C; 7:31085397-31085397 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.935C>T; p.P312L; 7:31087677-31087677 |
skin | malignant_melanoma | Substitution - Missense |
c.277G>A; p.E93K; 7:31080624-31080624 |
skin | malignant_melanoma | Substitution - Missense |
c.277G>A; p.E93K; 7:31080624-31080624 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1214G>A; p.G405D; 7:31104905-31104905 |
skin | malignant_melanoma | Substitution - Missense |
c.277G>A; p.E93K; 7:31080624-31080624 |
skin | malignant_melanoma | Substitution - Missense |
c.1046+1G>C; p.?; 7:31092736-31092736 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.805T>C; p.Y269H; 7:31086519-31086519 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.805T>C; p.Y269H; 7:31086519-31086519 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1315G>A; p.G439R; 7:31106592-31106592 |
breast | carcinoma | Substitution - Missense |
c.537G>A; p.R179R; 7:31085310-31085310 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.329-1G>A; p.?; 7:31084140-31084140 |
endometrium | carcinoma; endometrioid_carcinoma | Unknown |
c.345C>A; p.S115R; 7:31084157-31084157 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.714G>T; p.V238V; 7:31086428-31086428 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1008G>T; p.Q336H; 7:31092697-31092697 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.133A>G; p.M45V; 7:31064912-31064912 |
liver | carcinoma | Substitution - Missense |
c.133A>G; p.M45V; 7:31064912-31064912 |
liver | carcinoma | Substitution - Missense |
c.1026C>A; p.G342G; 7:31092715-31092715 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.335G>A; p.G112E; 7:31084147-31084147 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.530G>A; p.R177H; 7:31084828-31084828 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.492C>T; p.S164S; 7:31084790-31084790 |
skin | malignant_melanoma | Substitution - coding silent |
c.530G>A; p.R177H; 7:31084828-31084828 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.927C>T; p.I309I; 7:31087669-31087669 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.273G>A; p.E91E; 7:31080620-31080620 |
skin | malignant_melanoma | Substitution - coding silent |
c.1079C>A; p.P360Q; 7:31103269-31103269 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.536G>A; p.R179Q; 7:31084834-31084834 |
skin | malignant_melanoma | Substitution - Missense |
c.1087G>A; p.G363R; 7:31103277-31103277 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.985G>T; p.V329F; 7:31092674-31092674 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.174G>A; p.W58*; 7:31078007-31078007 |
skin | malignant_melanoma | Substitution - Nonsense |
c.934_935CC>AA; p.P312N; 7:31087676-31087677 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.281C>A; p.T94N; 7:31080628-31080628 |
oesophagus | carcinoma | Substitution - Missense |
c.175G>A; p.D59N; 7:31078008-31078008 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.825G>A; p.G275G; 7:31086944-31086944 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1072C>G; p.L358V; 7:31103262-31103262 |
skin | malignant_melanoma | Substitution - Missense |
c.1061C>A; p.S354Y; 7:31103251-31103251 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1117C>A; p.P373T; 7:31103307-31103307 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.1405T>G; p.*469G; 7:31106682-31106682 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Nonstop extension |
c.329-5T>A; p.?; 7:31084136-31084136 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.680A>T; p.K227M; 7:31086394-31086394 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1230G>A; p.E410E; 7:31106507-31106507 |
skin | malignant_melanoma | Substitution - coding silent |
c.1325G>T; p.G442V; 7:31106602-31106602 |
oesophagus | carcinoma | Substitution - Missense |
c.1319T>G; p.V440G; 7:31106596-31106596 |
skin | malignant_melanoma | Substitution - Missense |
c.130C>T; p.L44L; 7:31064909-31064909 |
breast | carcinoma | Substitution - coding silent |
c.765G>T; p.L255L; 7:31086479-31086479 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.496G>T; p.V166F; 7:31084794-31084794 |
bone | Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour | Substitution - Missense |
c.451C>A; p.L151M; 7:31084749-31084749 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.522C>T; p.I174I; 7:31084820-31084820 |
skin | malignant_melanoma | Substitution - coding silent |
c.522C>T; p.I174I; 7:31084820-31084820 |
skin | malignant_melanoma | Substitution - coding silent |
c.100T>C; p.C34R; 7:31064879-31064879 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1137G>A; p.R379R; 7:31103327-31103327 |
skin | malignant_melanoma | Substitution - coding silent |
c.724T>A; p.F242I; 7:31086438-31086438 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.1142G>A; p.R381K; 7:31103332-31103332 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1157T>C; p.L386P; 7:31103347-31103347 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.374A>G; p.E125G; 7:31084186-31084186 |
skin; upper_leg | malignant_melanoma | Substitution - Missense |
c.381C>T; p.F127F; 7:31084193-31084193 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.399C>T; p.A133A; 7:31084211-31084211 |
skin | malignant_melanoma | Substitution - coding silent |
c.600G>A; p.A200A; 7:31085373-31085373 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.600G>A; p.A200A; 7:31085373-31085373 |
skin | malignant_melanoma | Substitution - coding silent |
c.495C>T; p.L165L; 7:31084793-31084793 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - coding silent |
c.493C>G; p.L165V; 7:31084791-31084791 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.1025G>A; p.G342D; 7:31092714-31092714 |
skin | malignant_melanoma | Substitution - Missense |
c.1238G>A; p.R413Q; 7:31106515-31106515 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; hairy_cell_leukaemia | Substitution - Missense |
c.1238G>A; p.R413Q; 7:31106515-31106515 |
skin | malignant_melanoma | Substitution - Missense |
c.1238G>A; p.R413Q; 7:31106515-31106515 |
skin | malignant_melanoma | Substitution - Missense |
c.1238G>A; p.R413Q; 7:31106515-31106515 |
skin | malignant_melanoma | Substitution - Missense |
c.1238G>A; p.R413Q; 7:31106515-31106515 |
skin | malignant_melanoma | Substitution - Missense |
c.1238G>A; p.R413Q; 7:31106515-31106515 |
skin | malignant_melanoma | Substitution - Missense |
c.1049G>T; p.R350L; 7:31103239-31103239 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.439-1G>T; p.?; 7:31084736-31084736 |
liver | carcinoma | Unknown |
c.12C>T; p.V4V; 7:31063276-31063276 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.800A>G; p.Y267C; 7:31086514-31086514 |
skin | malignant_melanoma | Substitution - Missense |
c.458T>C; p.V153A; 7:31084756-31084756 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1260G>A; p.V420V; 7:31106537-31106537 |
skin | malignant_melanoma | Substitution - coding silent |
c.1254G>A; p.W418*; 7:31106531-31106531 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.1254G>A; p.W418*; 7:31106531-31106531 |
lung | carcinoma; large_cell_carcinoma | Substitution - Nonsense |
c.605C>T; p.S202F; 7:31085378-31085378 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1311C>A; p.S437R; 7:31106588-31106588 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.824G>A; p.G275E; 7:31086943-31086943 |
skin | malignant_melanoma | Substitution - Missense |
c.824G>A; p.G275E; 7:31086943-31086943 |
skin | malignant_melanoma | Substitution - Missense |
c.103C>A; p.L35M; 7:31064882-31064882 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.78C>A; p.I26I; 7:31064857-31064857 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1272C>T; p.F424F; 7:31106549-31106549 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; polycythaemia_vera | Substitution - coding silent |
c.863G>T; p.R288I; 7:31086982-31086982 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.59C>G; p.A20G; 7:31064838-31064838 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.876T>G; p.D292E; 7:31086995-31086995 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.348G>A; p.R116R; 7:31084160-31084160 |
skin | malignant_melanoma | Substitution - coding silent |
c.436C>T; p.Q146*; 7:31084248-31084248 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.1138G>A; p.E380K; 7:31103328-31103328 |
skin | malignant_melanoma | Substitution - Missense |
c.1138G>A; p.E380K; 7:31103328-31103328 |
skin | malignant_melanoma | Substitution - Missense |
c.331A>G; p.M111V; 7:31084143-31084143 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.436C>T; p.Q146*; 7:31084248-31084248 |
urinary_tract; bladder | carcinoma; transitional_cell_carcinoma | Substitution - Nonsense |
c.561C>T; p.F187F; 7:31085334-31085334 |
skin | malignant_melanoma | Substitution - coding silent |
c.1021G>A; p.G341R; 7:31092710-31092710 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.131_132TG>GA; p.L44R; 7:31064910-31064911 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.1375T>C; p.S459P; 7:31106652-31106652 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.546C>A; p.H182Q; 7:31085319-31085319 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.643G>T; p.D215Y; 7:31085416-31085416 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1137_1143delGGAAAGA; p.R379fs*23; 7:31103327-31103333 |
breast | carcinoma | Deletion - Frameshift |
c.319G>A; p.D107N; 7:31081745-31081745 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.322C>T; p.L108F; 7:31081748-31081748 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.1168_1169insAA; p.S390fs*1; 7:31103358-31103359 |
breast | carcinoma | Insertion - Frameshift |
c.492C>G; p.S164S; 7:31084790-31084790 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1166G>T; p.G389V; 7:31103356-31103356 |
lung; right_lower_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.585G>A; p.S195S; 7:31085358-31085358 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.465C>T; p.A155A; 7:31084763-31084763 |
pancreas | carcinoma | Substitution - coding silent |
c.1273G>A; p.A425T; 7:31106550-31106550 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.465C>T; p.A155A; 7:31084763-31084763 |
pancreas | carcinoma | Substitution - coding silent |
c.624G>A; p.W208*; 7:31085397-31085397 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.624G>A; p.W208*; 7:31085397-31085397 |
skin | malignant_melanoma | Substitution - Nonsense |
c.1021G>T; p.G341*; 7:31092710-31092710 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.748T>C; p.Y250H; 7:31086462-31086462 |
thyroid | carcinoma | Substitution - Missense |
c.562A>G; p.I188V; 7:31085335-31085335 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1004T>G; p.L335R; 7:31092693-31092693 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.304G>A; p.D102N; 7:31081730-31081730 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.176A>T; p.D59V; 7:31078009-31078009 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.730C>T; p.L244L; 7:31086444-31086444 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma | Substitution - coding silent |
c.1269C>A; p.Y423*; 7:31106546-31106546 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma | Substitution - Nonsense |
c.496delG; p.V166fs*25; 7:31084794-31084794 |
ovary | carcinoma; serous_carcinoma | Deletion - Frameshift |
c.245G>A; p.R82Q; 7:31078078-31078078 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.17A>C; p.H6P; 7:31063281-31063281 |
breast | carcinoma | Substitution - Missense |
c.332T>C; p.M111T; 7:31084144-31084144 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.479G>C; p.G160A; 7:31084777-31084777 |
central_nervous_system; brain | glioma | Substitution - Missense |
c.1286A>G; p.K429R; 7:31106563-31106563 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.950T>C; p.I317T; 7:31087692-31087692 |
upper_aerodigestive_tract; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.166G>A; p.G56R; 7:31077999-31077999 |
skin | malignant_melanoma | Substitution - Missense |
c.536+5G>T; p.?; 7:31084839-31084839 |
lung | carcinoma; squamous_cell_carcinoma | Unknown |
c.199G>A; p.A67T; 7:31078032-31078032 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1257G>A; p.K419K; 7:31106534-31106534 |
skin | malignant_melanoma | Substitution - coding silent |
c.347G>T; p.R116L; 7:31084159-31084159 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.606C>T; p.S202S; 7:31085379-31085379 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.14T>C; p.V5A; 7:31063278-31063278 |
oesophagus; lower_third | carcinoma; adenocarcinoma | Substitution - Missense |
c.874G>T; p.D292Y; 7:31086993-31086993 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1228G>A; p.E410K; 7:31106505-31106505 |
skin | malignant_melanoma | Substitution - Missense |
c.664T>C; p.S222P; 7:31085437-31085437 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.664T>C; p.S222P; 7:31085437-31085437 |
liver | carcinoma; hepatocellular_carcinoma | Substitution - Missense |
c.1228G>A; p.E410K; 7:31106505-31106505 |
skin | malignant_melanoma | Substitution - Missense |
c.1328G>T; p.G443V; 7:31106605-31106605 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |