| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2778 |
Name | GNAS |
Synonymous | AHO|C20orf45|GNAS1|GPSA|GSA|GSP|NESP|PHP1A|PHP1B|PHP1C|POH;GNAS complex locus;GNAS;GNAS complex locus |
Definition | adenylate cyclase-stimulating G alpha protein|alternative gene product encoded by XL-exon|extra large alphas protein|guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1|guanine nucleotide regulatory protein|guanine nuc |
Position | 20q13.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for GNAS | ||
PCGP somatic mutation [Top] | ||
There is no record for GNAS | ||
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.680A>T; p.Q227L; 20:56917991-56917991 |
liver | carcinoma; hepatocellular_carcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine | carcinoma; adenocarcinoma |
c.681G>T; p.Q227H; 20:56917992-56917992 |
thyroid | adenoma-nodule-goitre |
c.602G>A; p.R201H; 20:56917816-56917816 |
thyroid | adenoma-nodule-goitre |
c.602G>A; p.R201H; 20:56917816-56917816 |
thyroid | adenoma-nodule-goitre |
c.602G>A; p.R201H; 20:56917816-56917816 |
thyroid | adenoma-nodule-goitre |
c.602G>A; p.R201H; 20:56917816-56917816 |
thyroid | adenoma-nodule-goitre |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.680A>G; p.Q227R; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.602G>A; p.R201H; 20:56917816-56917816 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-PRL |
c.602G>A; p.R201H; 20:56917816-56917816 |
thyroid | adenoma-nodule-goitre |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; non_functioning |
c.680A>T; p.Q227L; 20:56917991-56917991 |
pituitary | adenoma; non_functioning |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>A; p.R201S; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>A; p.R201S; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.?; p.R201H; |
pituitary | adenoma; GH |
c.?; p.R201H; |
pituitary | adenoma; GH |
c.680A>T; p.Q227L; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.680A>T; p.Q227L; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.680A>T; p.Q227L; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.680A>T; p.Q227L; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.680A>G; p.Q227R; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | sex_cord-stromal_tumour; Leydig_cell_tumour |
c.?; p.R201H; |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.Q227R; |
pituitary | adenoma; GH |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | carcinoma |
c.?; p.R201H; |
thyroid | adenoma-nodule-goitre |
c.?; p.L203P; |
thyroid | adenoma-nodule-goitre |
c.?; p.Q227E; |
thyroid | adenoma-nodule-goitre |
c.?; p.Q227H; |
thyroid | adenoma-nodule-goitre |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.680A>T; p.Q227L; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-PRL |
c.602G>A; p.R201H; 20:56917816-56917816 |
pituitary | adenoma; GH-PRL |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-PRL-alpha_SU |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-PRL |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-PRL |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-PRL |
c.602G>A; p.R201H; 20:56917816-56917816 |
thyroid | adenoma-nodule-goitre |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | sex_cord-stromal_tumour; granulosa_cell_tumour |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | sex_cord-stromal_tumour; granulosa_cell_tumour |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | sex_cord-stromal_tumour; granulosa_cell_tumour |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | sex_cord-stromal_tumour; granulosa_cell_tumour |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | sex_cord-stromal_tumour; granulosa_cell_tumour |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | sex_cord-stromal_tumour; granulosa_cell_tumour |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | sex_cord-stromal_tumour; granulosa_cell_tumour |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | sex_cord-stromal_tumour; granulosa_cell_tumour |
c.602G>A; p.R201H; 20:56917816-56917816 |
ovary | sex_cord-stromal_tumour; granulosa_cell_tumour |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-PRL |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-PRL |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-PRL |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-alpha_SU |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-alpha_SU |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-alpha_SU |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-PRL |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.680A>T; p.Q227L; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>A; p.R201S; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.602G>A; p.R201H; 20:56917816-56917816 |
pituitary | adenoma; GH |
c.602G>A; p.R201H; 20:56917816-56917816 |
pituitary | adenoma; GH |
c.602G>A; p.R201H; 20:56917816-56917816 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.680A>T; p.Q227L; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.680A>T; p.Q227L; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.680A>T; p.Q227L; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>A; p.R201S; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | sex_cord-stromal_tumour; Leydig_cell_tumour |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | sex_cord-stromal_tumour; Leydig_cell_tumour |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | sex_cord-stromal_tumour; Leydig_cell_tumour |
c.601C>T; p.R201C; 20:56917815-56917815 |
testis | sex_cord-stromal_tumour; Leydig_cell_tumour |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.602G>A; p.R201H; 20:56917816-56917816 |
pituitary | adenoma; GH |
c.680A>G; p.Q227R; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; non_functioning |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.602G>A; p.R201H; 20:56917816-56917816 |
pituitary | adenoma; GH |
c.602G>A; p.R201H; 20:56917816-56917816 |
pituitary | adenoma; GH |
c.680A>G; p.Q227R; 20:56917991-56917991 |
pituitary | adenoma; FSH-LH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; non_functioning |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.602G>A; p.R201H; 20:56917816-56917816 |
pituitary | adenoma; GH |
c.602G>A; p.R201H; 20:56917816-56917816 |
pituitary | adenoma; GH |
c.680A>G; p.Q227R; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.680A>G; p.Q227R; 20:56917991-56917991 |
pituitary | adenoma; GH |
c.681G>T; p.Q227H; 20:56917992-56917992 |
thyroid | adenoma-nodule-goitre |
c.602G>A; p.R201H; 20:56917816-56917816 |
thyroid | adenoma-nodule-goitre |
c.681G>T; p.Q227H; 20:56917992-56917992 |
thyroid | adenoma-nodule-goitre |
c.680A>G; p.Q227R; 20:56917991-56917991 |
pituitary | adenoma; ACTH |
c.?; p.Q227H; |
pituitary | adenoma; ACTH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; ACTH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-PRL |
c.681G>T; p.Q227H; 20:56917992-56917992 |
thyroid | carcinoma; follicular_carcinoma |
c.679C>A; p.Q227K; 20:56917990-56917990 |
thyroid | carcinoma; follicular_carcinoma |
c.601C>A; p.R201S; 20:56917815-56917815 |
thyroid | carcinoma; papillary_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH-PRL |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
thyroid | carcinoma; papillary_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
thyroid | carcinoma; papillary_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
thyroid | carcinoma; papillary_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
thyroid | carcinoma; papillary_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma; aldosterone_producing |
c.601C>T; p.R201C; 20:56917815-56917815 |
thyroid | adenoma-nodule-goitre |
c.601C>T; p.R201C; 20:56917815-56917815 |
thyroid | adenoma-nodule-goitre |
c.602G>A; p.R201H; 20:56917816-56917816 |
thyroid | adenoma-nodule-goitre |
c.680A>G; p.Q227R; 20:56917991-56917991 |
thyroid | adenoma-nodule-goitre |
c.681G>T; p.Q227H; 20:56917992-56917992 |
thyroid | adenoma-nodule-goitre |
c.601C>T; p.R201C; 20:56917815-56917815 |
pituitary | adenoma; non_functioning |
c.602G>A; p.R201H; 20:56917816-56917816 |
pituitary | adenoma; GH |
c.?; p.R201H; |
adrenal_gland; adrenal_gland | adrenal_cortical_hyperplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
pituitary | adenoma; GH |
c.146G>T; p.G49V; |
lung | carcinoma; small_cell_carcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
thyroid | adenoma-nodule-goitre |
c.602G>A; p.R201H; 20:56917816-56917816 |
thyroid | adenoma-nodule-goitre |
c.602G>A; p.R201H; 20:56917816-56917816 |
thyroid | adenoma-nodule-goitre |
c.602G>A; p.R201H; 20:56917816-56917816 |
thyroid | adenoma-nodule-goitre |
c.601C>T; p.R201C; 20:56917815-56917815 |
thyroid | adenoma-nodule-goitre |
c.681G>T; p.Q227H; 20:56917992-56917992 |
thyroid | adenoma-nodule-goitre |
c.681G>T; p.Q227H; 20:56917992-56917992 |
thyroid | adenoma-nodule-goitre |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201S; |
pituitary | adenoma; GH |
c.?; p.R201S; |
pituitary | adenoma; GH |
c.?; p.Q227L; |
pituitary | adenoma; GH |
c.?; p.Q227L; |
pituitary | adenoma; GH |
c.?; p.Q227L; |
pituitary | adenoma; GH |
c.?; p.Q227L; |
pituitary | adenoma; GH |
c.?; p.Q227L; |
pituitary | adenoma; GH |
c.?; p.Q227R; |
pituitary | adenoma; GH |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
small_intestine; duodenum | other; hamartoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
stomach | other; hamartoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.602G>A; p.R201H; 20:56917816-56917816 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.602G>A; p.R201H; 20:56917816-56917816 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; myelodysplastic_syndrome |
c.601C>T; p.R201C; 20:56917815-56917815 |
liver | other; adenoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
liver | other; adenoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
liver | other; adenoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
liver | other; adenoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
liver | other; adenoma |
c.602G>T; p.R201L; 20:56917816-56917816 |
liver | carcinoma; hepatocellular_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
liver | carcinoma; hepatocellular_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
testis | sex_cord-stromal_tumour; Leydig_cell_tumour |
c.?; p.R201H; |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma; cortisol_producing |
c.?; p.R201H; |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma; cortisol_producing |
c.?; p.R201H; |
adrenal_gland; adrenal_gland | adrenal_cortical_adenoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; rectum | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; rectum | adenoma; villous |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; rectum | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; rectum | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; rectum | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; rectum | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; caecum | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; rectum | adenoma; villous |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; colon | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; rectum | adenoma; villous |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; rectum | adenoma; villous |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; rectum | adenoma; villous |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; rectum | adenoma; villous |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; colon | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; rectum | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; caecum | adenoma; villous |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; rectum | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; rectum | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; colon | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; rectum | adenoma; villous |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; colon | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; colon | adenoma; villous |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; rectum | adenoma; villous |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine | adenoma; tubulovillous |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine | carcinoma; adenocarcinoma |
c.742G>A; p.V248M; 20:56918157-56918157 |
lung | carcinoma; adenocarcinoma |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201C; |
pituitary | adenoma; GH |
c.?; p.R201H; |
pituitary | adenoma; GH |
c.?; p.Q227L; |
pituitary | adenoma; GH |
c.?; p.Q227L; |
pituitary | adenoma; GH |
c.?; p.Q227L; |
pituitary | adenoma; GH |
c.?; p.Q227L; |
pituitary | adenoma; GH |
c.?; p.Q227L; |
pituitary | adenoma; GH |
c.?; p.Q227R; |
pituitary | adenoma; GH |
c.?; p.Q227K; |
pituitary | adenoma; GH |
c.422A>T; p.D141V; 20:56912231-56912231 |
lung | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
liver | other; adenoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
liver | other; adenoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma |
c.680A>G; p.Q227R; 20:56917991-56917991 |
stomach | adenoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
stomach | adenoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
stomach | adenoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
stomach | adenoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
stomach | adenoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
stomach | adenoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
stomach | adenoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
stomach | adenoma |
c.680A>T; p.Q227L; 20:56917991-56917991 |
stomach | adenoma |
c.601C>A; p.R201S; 20:56917815-56917815 |
stomach | adenoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
stomach | adenoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
small_intestine; duodenum | adenoma; pyloric_gland |
c.602G>A; p.R201H; 20:56917816-56917816 |
small_intestine; duodenum | adenoma; pyloric_gland |
c.601C>T; p.R201C; 20:56917815-56917815 |
small_intestine; duodenum | adenoma; pyloric_gland |
c.601C>T; p.R201C; 20:56917815-56917815 |
small_intestine; duodenum | adenoma; pyloric_gland |
c.602G>A; p.R201H; 20:56917816-56917816 |
small_intestine; duodenum | adenoma; pyloric_gland |
c.602G>A; p.R201H; 20:56917816-56917816 |
small_intestine; duodenum | adenoma; pyloric_gland |
c.601C>A; p.R201S; 20:56917815-56917815 |
small_intestine; duodenum | adenoma; pyloric_gland |
c.602G>A; p.R201H; 20:56917816-56917816 |
small_intestine; duodenum | adenoma; pyloric_gland |
c.602G>A; p.R201H; 20:56917816-56917816 |
small_intestine; duodenum | adenoma; pyloric_gland |
c.601C>T; p.R201C; 20:56917815-56917815 |
small_intestine; duodenum | adenoma; pyloric_gland |
c.601C>T; p.R201C; 20:56917815-56917815 |
small_intestine; duodenum | adenoma; pyloric_gland |
c.602G>A; p.R201H; 20:56917816-56917816 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
soft_tissue; fibrous_tissue_and_uncertain_o | myxoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
adrenal_gland; adrenal_gland | adrenal_cortical_neoplasm; cortisol_producing |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.601C>A; p.R201S; 20:56917815-56917815 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; appendix | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
ovary | adenoma; mucinous |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | adenoma; mucinous |
c.602G>A; p.R201H; 20:56917816-56917816 |
ovary | adenoma; mucinous |
c.601C>A; p.R201S; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
ovary | sex_cord-stromal_tumour; sclerosing_stromal_tumour |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; mandible | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; mandible | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; mandible | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; mandible | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; mandible | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; mandible | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; mandible | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; mandible | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; mandible | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; mandible | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; maxilla | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; maxilla | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; maxilla | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; maxilla | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; maxilla | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; maxilla | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; maxilla | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; mandible | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; mandible | fibrous_dysplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
bone; mandible | fibrous_dysplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
bone; mandible | fibrous_dysplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
bone; maxilla | fibrous_dysplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
bone; maxilla | fibrous_dysplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
bone; maxilla | fibrous_dysplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
bone; mandible | fibrous_dysplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
bone; mandible | fibrous_dysplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
bone; mandible | fibrous_dysplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
bone; mandible | fibrous_dysplasia |
c.?; p.R201C; |
ovary | carcinoma; clear_cell_carcinoma |
c.?; p.Y163*; |
ovary | carcinoma; serous_carcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>A; p.R201S; 20:56917815-56917815 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; dysplasia-in_situ_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
autonomic_ganglia; head_neck | paraganglioma |
c.601C>T; p.R201C; 20:56917815-56917815 |
adrenal_gland; adrenal_gland | adrenal_cortical_hyperplasia |
c.608T>C; p.L203P; |
NS | malignant_melanoma |
c.608T>C; p.L203P; |
NS | malignant_melanoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.601C>A; p.R201S; 20:56917815-56917815 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.601C>A; p.R201S; 20:56917815-56917815 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.?; p.R201?; |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.?; p.R201?; |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.?; p.R201?; |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.?; p.R201?; |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.?; p.R201?; |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.?; p.R201?; |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.?; p.R201?; |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.?; p.R201?; |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.?; p.R201?; |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.?; p.R201?; |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.?; p.R201?; |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.?; p.R201?; |
biliary_tract; bile_duct | other; intraductal_papillary_neoplasm |
c.601C>T; p.R201C; 20:56917815-56917815 |
cervix | other; lobular_endocervical_glandular_hyperplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
cervix | other; lobular_endocervical_glandular_hyperplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
cervix | other; lobular_endocervical_glandular_hyperplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
cervix | other; lobular_endocervical_glandular_hyperplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
cervix | other; lobular_endocervical_glandular_hyperplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
cervix | other; lobular_endocervical_glandular_hyperplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
cervix | other; lobular_endocervical_glandular_hyperplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
cervix | other; lobular_endocervical_glandular_hyperplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
cervix | carcinoma; endocervical_adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
cervix | carcinoma; endocervical_adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
cervix | carcinoma; endocervical_adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
cervix | carcinoma; endocervical_adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
adrenal_gland; extraadrenal | pheochromocytoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
adrenal_gland; adrenal_gland | adrenal_cortical_hyperplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
adrenal_gland; adrenal_gland | adrenal_cortical_hyperplasia |
c.365C>A; p.P122H; |
NS | malignant_melanoma |
c.365C>A; p.P122H; |
NS | malignant_melanoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
parathyroid | adenoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
parathyroid | hyperplasia |
c.601C>T; p.R201C; 20:56917815-56917815 |
parathyroid | hyperplasia |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
adrenal_gland; adrenal_gland | pheochromocytoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
adrenal_gland; adrenal_gland | pheochromocytoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
thyroid | other; normal |
c.601C>T; p.R201C; 20:56917815-56917815 |
parathyroid | adenoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
thyroid | other; normal |
c.601C>T; p.R201C; 20:56917815-56917815 |
parathyroid | other; normal |
c.979G>A; p.E327K; |
stomach | carcinoma; intestinal_adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | carcinoma |
c.342_343insC; p.V117fs*23; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma |
c.602G>T; p.R201L; 20:56917816-56917816 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | carcinoma; acinar_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | carcinoma; acinar_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.677G>A; p.G226D; 20:56917988-56917988 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
oesophagus | carcinoma; adenocarcinoma |
c.587A>G; p.D196G; |
oesophagus | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
liver | carcinoma |
c.1014G>T; p.K338N; |
large_intestine; colon | carcinoma |
c.290A>G; p.N97S; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.213-1G>A; p.?; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.349G>A; p.V117M; |
lung | carcinoma; large_cell_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | carcinoma; ductal_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; adenoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; adenoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; adenoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
pancreas | other; adenoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
pancreas | other; adenoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
lung | carcinoma; adenocarcinoma |
c.146G>C; p.G49A; |
lung | carcinoma; adenocarcinoma |
c.183G>T; p.R61S; |
lung | carcinoma; adenocarcinoma |
c.676G>A; p.G226S; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.692G>A; p.R231H; |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.224A>G; p.E75G; |
lung | carcinoma; non_small_cell_carcinoma |
c.489C>T; p.Y163Y; |
prostate | carcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; colon | adenoma |
c.1120C>T; p.R374C; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.1120C>T; p.R374C; |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.?; p.R201H; |
large_intestine | carcinoma; adenocarcinoma |
c.?; p.R201H; |
large_intestine | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.1173C>T; p.Y391Y; |
autonomic_ganglia | neuroblastoma |
c.489C>G; p.Y163*; 20:56913889-56913889 |
ovary | carcinoma; serous_carcinoma |
c.222A>G; p.E74E; |
lung | carcinoma; squamous_cell_carcinoma |
c.489C>G; p.Y163*; 20:56913889-56913889 |
ovary | carcinoma; serous_carcinoma |
c.819C>G; p.F273L; |
ovary | carcinoma; serous_carcinoma |
c.493C>T; p.R165C; |
lung | carcinoma; squamous_cell_carcinoma |
c.909T>C; p.A303A; |
lung | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.822G>C; p.K274N; |
lung | carcinoma; squamous_cell_carcinoma |
c.552G>A; p.V184V; |
lung | carcinoma; squamous_cell_carcinoma |
c.869T>C; p.F290S; |
lung | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.478C>T; p.R160C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1120C>T; p.R374C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.699G>T; p.K233N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
breast | carcinoma |
c.425T>A; p.F142Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.603T>C; p.R201R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1174G>A; p.E392K; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1066C>T; p.R356C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.602G>T; p.R201L; 20:56917816-56917816 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.177_178insA; p.M60fs*7; |
breast | carcinoma |
c.563_564insT; p.D189fs*1; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1025G>A; p.R342Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1120C>T; p.R374C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.617G>C; p.G206A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.853A>G; p.I285V; |
breast | carcinoma |
c.1165C>T; p.R389C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.669C>T; p.D223D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.794G>A; p.R265H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1096G>A; p.A366T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.489C>T; p.Y163Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.595C>T; p.R199C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1020C>A; p.F340L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.182G>A; p.R61K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.563C>T; p.A188V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.218G>T; p.G73V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.891C>T; p.L297L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.325G>A; p.A109T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.422A>G; p.D141G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.744G>A; p.V248V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.489C>T; p.Y163Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.601C>A; p.R201S; 20:56917815-56917815 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.680A>G; p.Q227R; 20:56917991-56917991 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.463G>C; p.E155Q; |
urinary_tract; bladder | carcinoma |
c.422A>G; p.D141G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
breast | carcinoma |
c.695G>A; p.R232H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.895G>A; p.E299K; |
urinary_tract; bladder | carcinoma |
c.422A>G; p.D141G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.422A>G; p.D141G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.422A>G; p.D141G; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.950G>A; p.R317H; |
prostate | carcinoma |
c.602G>A; p.R201H; 20:56917816-56917816 |
biliary_tract; bile_duct | carcinoma; adenocarcinoma |
c.601C>T; p.R201C; 20:56917815-56917815 |
stomach | adenocarcinoma |