| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 1387 |
Name | CREBBP |
Synonymous | CBP|KAT3A|RSTS;CREB binding protein;CREBBP;CREB binding protein |
Definition | CREB-binding protein |
Position | 16p13.3 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for CREBBP | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
CREBBP_K389_M395>K; chr16; 3843419 |
DEL; PROTEINDEL; ATGTGATTCAAAACGTTT; ATGTGATTCAAAACGTTT/-; SOMATIC | HYPO; VALID; WGS |
CREBBP_R1169C; chr16; 3807914 |
SUB; MISSENSE; G; G/A; SOMATIC | HYPO; VALID; EXOME |
CREBBP_P1279_E21splice; chr16; 3799626 |
ISPLICE; -; -/C; SOMATIC | HYPO; VALID; EXOME |
CREBBP_R1446C; chr16; 3788618 |
SUB; MISSENSE; G; G/A; SOMATIC | HYPO; VALID; |
CREBBP_R1446C; chr16; 3788618 |
SUB; MISSENSE; G; G/A; SOMATIC | HYPO; VALID; EXOME |
CREBBP_P1241_E21exon; chr16; 3799609 |
DEL; EXON; GAAATAGCTATATACTTACGGTT; GAAATAGCTATATACTTACGGTT/-; SOMATIC | HYPO; VALID; WGS |
CREBBP_T1260T; chr16; 3801726 |
SUB; SILENT; C; C/T; SOMATIC | HYPO; PUTATIVE-HQ; EXOME |
CREBBP_Q1500P; chr16; 3786712 |
SUB; MISSENSE; T; T/G; SOMATIC | HYPO; VALID; |
CREBBP_Q1500P; chr16; 3786712 |
SUB; MISSENSE; T; T/G; SOMATIC | HYPO; VALID; EXOME |
CREBBP_R483*; chr16; 3832811 |
SUB; NONSENSE; G; G/A; SOMATIC | MB; VALID; WGS |
CREBBP_Q541*; chr16; 3831260 |
SUB; NONSENSE; G; G/A; SOMATIC | MB; VALID; TARGETED_SEQUENCING |
CREBBP_L51*; chr16; 3900944 |
SUB; NONSENSE; A; A/C; SOMATIC | RHB; PUTATIVE-HQ; EXOME |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.4507T>C; p.Y1503H; 16:3726705-3726705 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4496T>A; p.L1499Q; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4463C>G; p.P1488R; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.331A>T; p.N111Y; |
liver | carcinoma; hepatocellular_carcinoma |
c.4496T>C; p.L1499P; 16:3726716-3726716 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4873A>G; p.M1625V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2191A>G; p.N731D; |
soft_tissue; striated_muscle | rhabdoid_tumour |
c.4336C>T; p.R1446C; 16:3728619-3728619 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2455G>A; p.V819M; |
large_intestine | carcinoma; adenocarcinoma |
c.2861C>A; p.A954D; |
large_intestine | carcinoma; adenocarcinoma |
c.2731C>T; p.Q911*; |
large_intestine | carcinoma; adenocarcinoma |
c.4860G>A; p.K1620K; |
lung | carcinoma; adenocarcinoma |
c.1557G>A; p.R519R; |
lung | carcinoma; squamous_cell_carcinoma |
c.7130C>T; p.S2377L; |
lung | carcinoma; adenocarcinoma |
c.4735C>T; p.Q1579*; |
ovary | other; neoplasm |
c.4492C>T; p.R1498*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma |
c.5475C>G; p.L1825L; |
lung | carcinoma; squamous_cell_carcinoma |
c.7318G>A; p.E2440K; |
skin; arm | malignant_melanoma |
c.5035_5037delTCC; p.S1680delS; 16:3721329-3721331 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4496T>C; p.L1499P; 16:3726716-3726716 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4337G>A; p.R1446H; 16:3728618-3728618 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia |
c.4337G>A; p.R1446H; 16:3728618-3728618 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia |
c.4689G>C; p.R1563S; 16:3726077-3726077 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia |
c.5660C>G; p.S1887*; 16:3719389-3719389 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia |
c.5660C>G; p.S1887*; 16:3719389-3719389 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia |
c.4499A>C; p.Q1500P; 16:3726713-3726713 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia |
c.4499A>C; p.Q1500P; 16:3726713-3726713 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia |
c.?; p.L470*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.?; p.G2229S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.?; p.G2229S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.?; p.P858S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.?; p.P858S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.?; p.I2101M; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.5282C>G; p.S1761*; 16:3719767-3719767 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.?; p.R386*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.?; p.P688A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.?; p.P688A; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.?; p.G1069S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.?; p.C1408Y; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4224delC; p.F1410fs*49; 16:3729636-3729636 |
NS | NS |
c.3059A>T; p.E1020V; 16:3759177-3759177 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4508A>T; p.Y1503F; 16:3726704-3726704 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.1744_1745CC>TTT; p.P582fs*4; 16:3770812-3770813 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.1744_1745CC>TTT; p.P582fs*4; 16:3770812-3770813 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4232G>A; p.G1411E; 16:3729628-3729628 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4232G>A; p.G1411E; 16:3729628-3729628 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4231G>A; p.G1411R; 16:3729629-3729629 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4262G>A; p.C1421Y; 16:3729598-3729598 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.3836+1G>A; p.?; 16:3739628-3739628 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4471C>A; p.Q1491K; 16:3726741-3726741 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4448T>G; p.I1483S; 16:3726764-3726764 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4304A>G; p.D1435G; 16:3728651-3728651 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.5399G>A; p.R1800Q; |
liver | carcinoma; hepatocellular_carcinoma |
c.4336C>T; p.R1446C; 16:3728619-3728619 |
NS | NS |
c.758A>T; p.H253L; |
skin; upper_back | malignant_melanoma |
c.3250delA; p.I1084fs*15; |
stomach | carcinoma; adenocarcinoma |
c.4415G>C; p.W1472S; |
NS | NS |
c.4507T>G; p.Y1503D; 16:3726705-3726705 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4021C>T; p.R1341*; 16:3730513-3730513 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4022G>A; p.R1341Q; 16:3730512-3730512 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3959A>G; p.K1320R; 16:3734919-3734919 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3967A>T; p.K1323*; 16:3734911-3734911 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4305T>A; p.D1435E; 16:3728650-3728650 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4707_4708insGCACT; p.A1571fs*66; 16:3726058-3726059 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3517C>T; p.R1173*; 16:3747903-3747903 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3158C>T; p.P1053L; 16:3757814-3757814 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4508A>T; p.Y1503F; 16:3726704-3726704 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.5035_5037delTCC; p.S1680delS; 16:3721329-3721331 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4337G>T; p.R1446L; 16:3728618-3728618 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4444T>C; p.Y1482H; 16:3726768-3726768 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.286C>T; p.Q96*; 16:3840811-3840811 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.466C>T; p.Q156*; 16:3840631-3840631 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3301_3302ins41; p.L1101fs*12; 16:3748923-3748924 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2254C>T; p.Q752*; 16:3764600-3764600 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1334_1335insCCAT; p.L446fs*7; 16:3772924-3772925 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.5035_5037delTCC; p.S1680delS; 16:3721329-3721331 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.223C>T; p.R75*; 16:3840874-3840874 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.223C>T; p.R75*; 16:3840874-3840874 |
haematopoietic_and_lymphoid_tissue; spleen | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.2126C>T; p.S709F; |
skin; nipple | malignant_melanoma |
c.4395-1G>A; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.5470G>A; p.A1824T; |
lung | carcinoma; small_cell_carcinoma |
c.4507T>G; p.Y1503D; 16:3726705-3726705 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4358T>A; p.I1453N; |
salivary_gland | carcinoma; adenoid_cystic_carcinoma |
c.4427C>G; p.P1476R; 16:3726785-3726785 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.5933A>G; p.N1978S; 16:3719116-3719116 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_B_cell_leukaemia |
c.2224C>T; p.R742C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1238G>A; p.R413Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6310C>T; p.R2104C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5891G>A; p.R1964H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3250delA; p.I1084fs*15; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6596A>T; p.Q2199L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5720C>T; p.A1907V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5344G>A; p.A1782T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4990C>T; p.R1664C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6154C>T; p.R2052W; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1855G>A; p.A619T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7037C>T; p.P2346L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1187C>G; p.T396R; |
NS | NS |
c.5038_5039insT; p.S1680fs*55; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma |
c.2950A>C; p.N984H; |
pancreas | carcinoma |
c.1216G>C; p.V406L; |
pancreas | carcinoma |
c.4991G>T; p.R1664L; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma |
c.3546A>G; p.A1182A; |
lung | carcinoma; adenocarcinoma |
c.5712G>C; p.Q1904H; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.5367C>A; p.N1789K; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4336C>T; p.R1446C; 16:3728619-3728619 |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.1689C>G; p.N563K; |
skin; back | malignant_melanoma |
c.2925delC; p.S976fs*22; |
pancreas | carcinoma; acinar_carcinoma |
c.3517C>T; p.R1173*; 16:3747903-3747903 |
urinary_tract; bladder | carcinoma |
c.4336C>G; p.R1446G; |
urinary_tract; bladder | carcinoma |
c.5932A>G; p.N1978D; 16:3719117-3719117 |
breast | carcinoma |
c.286C>T; p.Q96*; 16:3840811-3840811 |
urinary_tract; bladder | carcinoma |
c.3874C>T; p.Q1292*; |
urinary_tract; bladder | carcinoma |
c.310C>T; p.Q104*; |
urinary_tract; bladder | carcinoma |
c.1063C>T; p.Q355*; |
urinary_tract; bladder | carcinoma |
c.3217C>T; p.Q1073*; |
urinary_tract; bladder | carcinoma |
c.3323C>A; p.S1108*; |
urinary_tract; bladder | carcinoma |
c.4506G>T; p.W1502C; 16:3726706-3726706 |
urinary_tract; bladder | carcinoma |
c.6983C>T; p.S2328L; |
urinary_tract; bladder | carcinoma |
c.3689A>G; p.Y1230C; |
urinary_tract; bladder | carcinoma |
c.2515C>T; p.Q839*; |
urinary_tract; bladder | carcinoma |
c.1890_1893delAGCC; p.A631fs*23; |
urinary_tract; bladder | carcinoma |
c.3779+1G>T; p.?; |
urinary_tract; bladder | carcinoma |
c.1258A>T; p.K420*; |
urinary_tract; bladder | carcinoma |
c.4506G>T; p.W1502C; 16:3726706-3726706 |
liver | carcinoma |
c.4337G>A; p.R1446H; 16:3728618-3728618 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4506G>T; p.W1502C; 16:3726706-3726706 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.2678C>T; p.S893L; 16:3760774-3760774 |
breast | carcinoma |
c.4873A>T; p.M1625L; 16:3721795-3721795 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemia |
c.6952C>G; p.Q2318E; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.35C>A; p.P12H; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.4865A>G; p.Y1622C; 16:3721803-3721803 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma |
c.2809C>T; p.P937S; 16:3760643-3760643 |
skin | malignant_melanoma |
c.3310C>T; p.Q1104*; |
haematopoietic_and_lymphoid_tissue; lymph_node | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4309A>T; p.I1437F; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4336C>T; p.R1446C; 16:3728619-3728619 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4508A>T; p.Y1503F; 16:3726704-3726704 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3710G>A; p.C1237Y; 16:3741797-3741797 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.4209C>T; p.D1403D; |
oesophagus | carcinoma; adenocarcinoma |
c.6452G>A; p.R2151Q; |
oesophagus | carcinoma; adenocarcinoma |
c.6727G>A; p.A2243T; |
oesophagus | carcinoma; adenocarcinoma |
c.2528T>A; p.L843Q; |
oesophagus | carcinoma; adenocarcinoma |
c.4807G>T; p.A1603S; |
oesophagus | carcinoma; squamous_cell_carcinoma |
c.3237G>T; p.Q1079H; 16:3757735-3757735 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3034G>A; p.E1012K; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4444T>C; p.Y1482H; 16:3726768-3726768 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4307G>A; p.S1436N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4337G>T; p.R1446L; 16:3728618-3728618 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.3702T>G; p.Y1234*; 16:3741805-3741805 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4304A>G; p.D1435G; 16:3728651-3728651 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4448T>G; p.I1483S; 16:3726764-3726764 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.5035_5037delTCC; p.S1680delS; 16:3721329-3721331 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4336C>T; p.R1446C; 16:3728619-3728619 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4336C>T; p.R1446C; 16:3728619-3728619 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.3375T>A; p.Y1125*; 16:3748045-3748045 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4301T>C; p.L1434P; 16:3728654-3728654 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.3900C>A; p.I1300I; |
stomach | carcinoma; adenocarcinoma |
c.3837-8C>T; p.?; |
stomach | carcinoma; adenocarcinoma |
c.2784G>A; p.P928P; |
stomach | carcinoma; adenocarcinoma |
c.5140G>T; p.V1714L; |
lung | carcinoma; small_cell_carcinoma |
c.5035_5037delTCC; p.S1680delS; 16:3721329-3721331 |
lung | carcinoma; small_cell_carcinoma |
c.4416G>T; p.W1472C; |
lung | carcinoma; squamous_cell_carcinoma |
c.2678C>T; p.S893L; 16:3760774-3760774 |
lung | carcinoma; adenocarcinoma |
c.1647_1654delAGCTCTTC; p.A550fs*18; |
liver | carcinoma |
c.3836+1G>A; p.?; 16:3739628-3739628 |
liver | carcinoma |
c.2284-5C>G; p.?; |
liver | carcinoma; hepatocellular_carcinoma |
c.234C>T; p.S78S; |
liver | carcinoma |
c.1460C>A; p.A487D; |
liver | carcinoma |
c.4336C>T; p.R1446C; 16:3728619-3728619 |
liver | carcinoma |
c.3449C>A; p.P1150H; |
large_intestine; colon | carcinoma |
c.4337G>A; p.R1446H; 16:3728618-3728618 |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.4561G>T; p.D1521Y; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.1507C>T; p.Q503*; |
upper_aerodigestive_tract; pharynx | carcinoma; squamous_cell_carcinoma |
c.2849C>T; p.T950M; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.760G>C; p.A254P; |
upper_aerodigestive_tract; larynx | carcinoma; squamous_cell_carcinoma |
c.(5830_5832)insC; p.?fs; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.2950A>C; p.N984H; |
pancreas | carcinoma; ductal_carcinoma |
c.1216G>C; p.V406L; |
pancreas | carcinoma; ductal_carcinoma |
c.3478A>G; p.M1160V; |
ovary | carcinoma |
c.4071delT; p.F1358fs*18; 16:3730463-3730463 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.5418G>C; p.K1806N; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4990C>T; p.R1664C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2141G>A; p.R714H; 16:3767632-3767632 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.5065C>T; p.L1689F; 16:3721301-3721301 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.3712G>T; p.E1238*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.714G>C; p.V238V; |
skin; leg | malignant_melanoma; nodular |
c.5271C>T; p.G1757G; 16:3719778-3719778 |
skin | malignant_melanoma |
c.3883_3884insT; p.L1296fs*4; |
lung | carcinoma; adenocarcinoma |
c.4008C>G; p.N1336K; |
lung | carcinoma; adenocarcinoma |
c.2965G>T; p.G989*; |
lung | carcinoma; adenocarcinoma |
c.4445A>G; p.Y1482C; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4337G>A; p.R1446H; 16:3728618-3728618 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4303G>A; p.D1435N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4305T>A; p.D1435E; 16:3728650-3728650 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4337G>A; p.R1446H; 16:3728618-3728618 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.4414T>G; p.W1472G; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |
c.7285G>T; p.D2429Y; |
lung | carcinoma; adenocarcinoma |
c.6689A>G; p.Q2230R; |
lung | carcinoma; adenocarcinoma |
c.4198G>T; p.E1400*; |
lung | carcinoma; adenocarcinoma |
c.3147T>C; p.D1049D; |
lung | carcinoma; adenocarcinoma |
c.1844C>T; p.T615I; |
lung | carcinoma; adenocarcinoma |
c.4132C>T; p.R1378W; |
lung | carcinoma; adenocarcinoma |
c.4887_4888delGG; p.E1630fs*29; |
lung | carcinoma; adenocarcinoma |
c.1133G>A; p.R378Q; |
lung | carcinoma; adenocarcinoma |
c.913A>G; p.N305D; |
lung | carcinoma; adenocarcinoma |
c.5603G>T; p.R1868L; |
lung | carcinoma; adenocarcinoma |
c.424G>C; p.G142R; |
lung | carcinoma; adenocarcinoma |
c.2510G>T; p.G837V; |
lung | carcinoma; adenocarcinoma |
c.2499C>G; p.L833L; |
lung | carcinoma; adenocarcinoma |
c.3044G>T; p.G1015V; |
lung | carcinoma; adenocarcinoma |
c.3452G>T; p.W1151L; |
lung | carcinoma; adenocarcinoma |
c.4648G>C; p.E1550Q; |
lung | carcinoma; adenocarcinoma |
c.6624A>C; p.Q2208H; 16:3718425-3718425 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.4336C>T; p.R1446C; 16:3728619-3728619 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.4337G>T; p.R1446L; 16:3728618-3728618 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma |
c.7088C>T; p.P2363L; |
skin; extremity | malignant_melanoma |
c.6418C>T; p.Q2140*; 16:3718631-3718631 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.7105C>A; p.P2369T; 16:3717944-3717944 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.760G>A; p.A254T; 16:3840337-3840337 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.2064delG; p.A690fs*5; 16:3768062-3768062 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.3269T>A; p.L1090*; 16:3748956-3748956 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia |
c.2491_2497delAACCCTC; p.N831fs*16; |
meninges | meningioma |
c.1171G>A; p.V391I; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_leukaemia |
c.4681G>T; p.E1561*; |
autonomic_ganglia | neuroblastoma |
c.4094C>A; p.S1365*; |
autonomic_ganglia | neuroblastoma |
c.2678C>A; p.S893*; |
ovary | carcinoma |
c.248A>C; p.N83T; 16:3840849-3840849 |
lung | carcinoma; adenocarcinoma |
c.2678C>T; p.S893L; 16:3760774-3760774 |
lung | carcinoma; bronchioloalveolar_adenocarcinoma |
c.1307C>T; p.A436V; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.508C>T; p.Q170*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1718delC; p.L574fs*15; 16:3770839-3770839 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3718T>C; p.C1240R; 16:3741789-3741789 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3301_3302delCT; p.L1101fs*26; 16:3748923-3748924 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3370-4delt; p.?; |
ovary | carcinoma; serous_carcinoma |
c.3370-5_3370-4deltt; p.?; |
ovary | carcinoma; serous_carcinoma |
c.3211G>A; p.A1071T; 16:3757761-3757761 |
ovary | carcinoma |
c.2678C>A; p.S893*; |
ovary | carcinoma |
c.3211G>A; p.A1071T; 16:3757761-3757761 |
ovary | carcinoma |
c.1491G>A; p.Q497Q; |
pancreas | carcinoma; ductal_carcinoma |
c.4336C>T; p.R1446C; 16:3728619-3728619 |
NS | NS |
c.4051delC; p.H1351fs*25; |
NS | NS |
c.4686G>A; p.E1562E; |
breast | carcinoma |
c.6984G>A; p.S2328S; |
prostate | carcinoma |
c.759C>T; p.H253H; |
prostate | carcinoma |
c.3461T>C; p.V1154A; |
prostate | carcinoma |
c.6841G>A; p.A2281T; |
pancreas | NS |
c.4471C>A; p.Q1491K; 16:3726741-3726741 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3246delA; p.I1084fs*15; 16:3757726-3757726 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.4071delT; p.F1358fs*18; 16:3730463-3730463 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.4078C>T; p.R1360*; 16:3730456-3730456 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.576C>G; p.N192K; |
liver | carcinoma |
c.6938C>T; p.P2313L; 16:3718111-3718111 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.4179C>G; p.T1393T; |
lung | carcinoma; small_cell_carcinoma |
c.3697A>T; p.R1233W; |
lung | carcinoma; small_cell_carcinoma |
c.4471_4473delCAA; p.Q1491delQ; |
lung | carcinoma; small_cell_carcinoma |
c.4280+2T>C; p.?; |
lung | carcinoma; small_cell_carcinoma |
c.4232G>T; p.G1411V; |
lung | carcinoma; small_cell_carcinoma |
c.1157_1158insCATTGTCG; p.T387fs*5; |
lung | carcinoma; mixed_small_cell_carcinoma-adenocarcinoma |
c.3334C>T; p.R1112W; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.3242G>A; p.R1081H; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.4508A>T; p.Y1503F; 16:3726704-3726704 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.7089G>A; p.P2363P; |
large_intestine; colon | adenoma |
c.3837-26_3837-5del22; p.?; 16:3739690-3739711 |
ovary | carcinoma |
c.1447C>T; p.R483*; |
central_nervous_system; brainstem | primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype |
c.1621C>T; p.Q541*; |
central_nervous_system; brainstem | primitive_neuroectodermal_tumour-medulloblastoma; WNT_subtype |
c.4021C>T; p.R1341*; 16:3730513-3730513 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.4021C>T; p.R1341*; 16:3730513-3730513 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV |
c.4444T>A; p.Y1482N; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.5831delC; p.P1946fs*30; 16:3719218-3719218 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1407delT; p.L470fs*1; 16:3772852-3772852 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4349A>G; p.Y1450C; 16:3728606-3728606 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.5035_5037delTCC; p.S1680delS; 16:3721329-3721331 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1573+2T>C; p.?; 16:3772684-3772684 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.(5830_5832)insC; p.?fs; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia |
c.3779+1delg; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4135T>G; p.F1379V; 16:3729725-3729725 |
ovary | carcinoma; serous_carcinoma |
c.2650G>A; p.A884T; |
ovary | carcinoma; serous_carcinoma |
c.2978delC; p.P993fs*5; |
ovary | carcinoma; serous_carcinoma |
c.520G>C; p.G174R; |
lung | carcinoma; adenocarcinoma |
c.5266C>T; p.Q1756*; |
lung | carcinoma; adenocarcinoma |
c.4401G>C; p.V1467V; 16:3726811-3726811 |
ovary | carcinoma; serous_carcinoma |
c.2509_2515delGGGCCTC; p.G837fs*10; 16:3760937-3760943 |
ovary | carcinoma; serous_carcinoma |
c.4223G>A; p.C1408Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.3419G>A; p.R1140Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.170G>T; p.G57V; |
lung | carcinoma; squamous_cell_carcinoma |
c.7152C>A; p.H2384Q; |
lung | carcinoma; squamous_cell_carcinoma |
c.6989T>G; p.L2330R; |
lung | carcinoma; squamous_cell_carcinoma |
c.4336C>T; p.R1446C; 16:3728619-3728619 |
lung | carcinoma; squamous_cell_carcinoma |
c.2827C>T; p.Q943*; |
lung | carcinoma; squamous_cell_carcinoma |
c.3893A>G; p.Y1298C; |
lung | carcinoma; squamous_cell_carcinoma |
c.4013T>C; p.L1338S; 16:3730521-3730521 |
ovary | carcinoma; serous_carcinoma |
c.4021C>T; p.R1341*; 16:3730513-3730513 |
ovary | carcinoma; serous_carcinoma |
c.858G>T; p.Q286H; |
ovary | carcinoma; serous_carcinoma |
c.4280+1G>T; p.?; |
ovary | carcinoma; serous_carcinoma |
c.1170C>G; p.N390K; |
ovary | carcinoma; serous_carcinoma |
c.4358T>C; p.I1453T; 16:3728597-3728597 |
ovary | carcinoma; serous_carcinoma |
c.4348T>G; p.Y1450D; |
lung | carcinoma; squamous_cell_carcinoma |
c.1507C>T; p.Q503*; |
lung | carcinoma; squamous_cell_carcinoma |
c.1810C>T; p.L604L; |
lung | carcinoma; squamous_cell_carcinoma |
c.5300C>T; p.S1767L; |
lung | carcinoma; squamous_cell_carcinoma |
c.6943A>T; p.S2315C; |
lung | carcinoma; squamous_cell_carcinoma |
c.682A>G; p.T228A; |
lung | carcinoma; squamous_cell_carcinoma |
c.824C>A; p.P275Q; |
lung | carcinoma; adenocarcinoma |
c.7201G>T; p.G2401W; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1464C>A; p.L488L; |
lung | carcinoma; squamous_cell_carcinoma |
c.2441C>T; p.P814L; |
lung | carcinoma; squamous_cell_carcinoma |
c.3206G>A; p.G1069D; |
lung | carcinoma; adenocarcinoma |
c.3153G>C; p.K1051N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.4246G>C; p.E1416Q; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.5170G>A; p.E1724K; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.5624G>T; p.R1875L; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2103G>A; p.V701V; |
lung | carcinoma; squamous_cell_carcinoma |
c.3911_3914+10delCAGGgtgagttgtt; p.?; |
ovary | carcinoma; serous_carcinoma |
c.2331T>C; p.G777G; |
lung | carcinoma; squamous_cell_carcinoma |
c.4303G>T; p.D1435Y; |
lung | carcinoma; squamous_cell_carcinoma |
c.1847C>G; p.P616R; |
lung | carcinoma; squamous_cell_carcinoma |
c.4101G>C; p.K1367N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.408G>T; p.Q136H; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.903G>T; p.Q301H; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.6106C>G; p.P2036A; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.6130G>T; p.A2044S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.1148C>G; p.P383R; |
lung | carcinoma; squamous_cell_carcinoma |
c.5129G>C; p.C1710S; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.5269G>T; p.G1757C; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.2114A>G; p.N705S; |
breast | carcinoma |
c.2686G>A; p.G896R; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.775G>A; p.A259T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1103_1104insA; p.R369fs*58; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4078C>A; p.R1360R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.666T>C; p.A222A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5204C>T; p.T1735M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4689G>A; p.R1563R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3268T>C; p.L1090L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3519A>G; p.R1173R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3960A>G; p.K1320K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6072G>A; p.A2024A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5406G>C; p.V1802V; |
breast | carcinoma |
c.3505C>T; p.R1169C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4951G>A; p.D1651N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4822C>T; p.P1608S; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5039_5041delCCT; p.S1680delS; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3517C>A; p.R1173R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4078C>A; p.R1360R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3269T>C; p.L1090S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2678C>T; p.S893L; 16:3760774-3760774 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6215G>A; p.R2072Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2178C>T; p.P726P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4079G>A; p.R1360Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.466C>A; p.Q156K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5087A>G; p.H1696R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5219A>G; p.H1740R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2308C>T; p.P770S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4813A>G; p.K1605E; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5424C>A; p.C1808*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5048G>A; p.R1683H; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2278C>T; p.P760S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4063G>A; p.G1355R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2516A>G; p.Q839R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4870A>C; p.T1624P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1950T>G; p.Y650*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1319G>A; p.R440Q; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.661G>A; p.G221R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3361G>T; p.G1121*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4840T>C; p.S1614P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4166T>C; p.F1389S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.270C>T; p.S90S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4893C>A; p.V1631V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.6451C>T; p.R2151W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5514C>T; p.C1838C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4021C>T; p.R1341*; 16:3730513-3730513 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.7231delC; p.Q2411fs*2; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3960A>G; p.K1320K; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.760G>A; p.A254T; 16:3840337-3840337 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5661A>G; p.S1887S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4336C>A; p.R1446S; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.236G>T; p.G79V; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5470G>A; p.A1824T; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.321G>A; p.P107P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2748T>C; p.P916P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.7030C>T; p.R2344W; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2014C>T; p.R672C; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3236A>G; p.Q1079R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4687A>G; p.R1563G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4687A>G; p.R1563G; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2390_2391insA; p.N797fs*35; |
breast | carcinoma |
c.5044C>T; p.R1682C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3737G>A; p.G1246D; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1874G>A; p.R625H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4483A>T; p.K1495*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4419delC; p.C1474fs*76; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4034T>G; p.F1345C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2708C>A; p.P903H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6949C>A; p.Q2317K; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6424C>A; p.L2142M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5124C>T; p.N1708N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4251C>A; p.Y1417*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3435G>A; p.G1145G; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2573C>T; p.P858L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.732G>A; p.T244T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1937G>A; p.S646N; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3321G>A; p.E1107E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.7192G>T; p.G2398*; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4498C>T; p.Q1500*; |
large_intestine | carcinoma; adenocarcinoma |
c.6596A>T; p.Q2199L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5770G>A; p.V1924M; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1612A>C; p.T538P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6441T>G; p.A2147A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.732G>A; p.T244T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4687A>G; p.R1563G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1801C>T; p.R601W; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.356G>T; p.G119V; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2517G>T; p.Q839H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.878T>C; p.V293A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1585A>G; p.M529V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6310C>T; p.R2104C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5344G>A; p.A1782T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4778C>A; p.T1593N; |
breast | carcinoma |
c.977C>T; p.S326F; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4545C>G; p.I1515M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2811G>A; p.P937P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4211G>T; p.G1404V; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6303C>G; p.I2101M; |
breast | carcinoma |
c.7089G>A; p.P2363P; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4996G>A; p.A1666T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4317C>A; p.F1439L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3956G>A; p.R1319Q; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2140C>T; p.R714C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3221C>G; p.S1074*; |
urinary_tract; bladder | carcinoma |
c.2499C>G; p.L833L; |
urinary_tract; bladder | carcinoma |
c.2659C>T; p.Q887*; |
urinary_tract; bladder | carcinoma |
c.4307G>A; p.S1436N; |
urinary_tract; bladder | carcinoma |
c.4990C>T; p.R1664C; |
urinary_tract; bladder | carcinoma |
c.3271C>T; p.R1091C; |
breast | carcinoma |
c.7115C>T; p.S2372L; |
breast | carcinoma |
c.4687A>G; p.R1563G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4455T>C; p.H1485H; |
prostate | carcinoma; adenocarcinoma |
c.6795G>A; p.A2265A; |
prostate | carcinoma; adenocarcinoma |
c.4134-1G>A; p.?; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.2677T>C; p.S893P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4302G>T; p.L1434L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4022G>T; p.R1341L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5661A>G; p.S1887S; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4445A>T; p.Y1482F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3517C>A; p.R1173R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3373T>C; p.Y1125H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4687A>G; p.R1563G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2811G>A; p.P937P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.2677T>C; p.S893P; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2255A>G; p.Q752R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3159T>C; p.P1053P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4507T>C; p.Y1503H; 16:3726705-3726705 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5064G>A; p.T1688T; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1429G>A; p.D477N; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4213G>A; p.V1405M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4874T>C; p.M1625T; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4668A>G; p.L1556L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.6871C>A; p.L2291M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6424C>A; p.L2142M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4901T>C; p.V1634A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.5698C>G; p.P1900A; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3114A>G; p.I1038M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2015G>A; p.R672H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.4311T>G; p.I1437M; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3299C>A; p.A1100E; |
endometrium | carcinoma; endometrioid_carcinoma |
c.6281C>T; p.P2094L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.2294C>A; p.S765Y; |
endometrium | carcinoma; endometrioid_carcinoma |
c.3158C>A; p.P1053H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4013T>C; p.L1338S; 16:3730521-3730521 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1400C>T; p.A467V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3493T>C; p.W1165R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.3507C>T; p.R1169R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4837G>A; p.V1613M; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3720T>C; p.C1240C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5982G>C; p.Q1994H; |
breast | carcinoma |
c.3454C>T; p.Q1152*; |
urinary_tract; bladder | carcinoma |
c.4617T>G; p.Y1539*; |
urinary_tract; bladder | carcinoma |
c.2080G>C; p.V694L; |
urinary_tract; bladder | carcinoma |
c.1996G>C; p.E666Q; |
urinary_tract; bladder | carcinoma |
c.4499A>G; p.Q1500R; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4427C>T; p.P1476L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4459C>T; p.H1487Y; 16:3726753-3726753 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4445A>T; p.Y1482F; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.1401C>A; p.A467A; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3517C>T; p.R1173*; 16:3747903-3747903 |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.637C>T; p.L213F; |
cervix | carcinoma; squamous_cell_carcinoma |
c.4627G>C; p.D1543H; |
cervix | carcinoma; squamous_cell_carcinoma |
c.3775C>T; p.Q1259*; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4428A>T; p.P1476P; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.4022G>T; p.R1341L; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.3236A>G; p.Q1079R; |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.5660C>A; p.S1887*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4506G>A; p.W1502*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4448T>C; p.I1483T; 16:3726764-3726764 |
large_intestine; rectum | carcinoma; adenocarcinoma |
c.235G>A; p.G79S; |
urinary_tract; bladder | carcinoma |
c.182C>T; p.P61L; |
cervix | carcinoma; squamous_cell_carcinoma |
c.4505G>A; p.W1502*; |
urinary_tract; bladder | carcinoma |
c.7302G>A; p.T2434T; |
urinary_tract; bladder | carcinoma |
c.3059A>G; p.E1020G; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4014G>A; p.L1338L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.399G>C; p.L133L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4282C>T; p.R1428C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.5282C>A; p.S1761*; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.7107C>T; p.P2369P; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3720T>C; p.C1240C; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4012T>C; p.L1338L; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4448T>C; p.I1483T; 16:3726764-3726764 |
large_intestine; colon | carcinoma; adenocarcinoma |
c.4689G>A; p.R1563R; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.4446C>T; p.Y1482Y; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.224G>T; p.R75L; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.2159G>T; p.G720V; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.3882C>T; p.C1294C; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1942-1G>T; p.?; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.5895G>A; p.E1965E; |
urinary_tract; bladder | carcinoma |
c.2666C>G; p.S889*; |
urinary_tract; bladder | carcinoma |
c.3427G>C; p.D1143H; |
urinary_tract; bladder | carcinoma |
c.694C>T; p.Q232*; 16:3840403-3840403 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.1389G>A; p.G463G; |
prostate | carcinoma |
c.4459C>T; p.H1487Y; 16:3726753-3726753 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.4459C>T; p.H1487Y; 16:3726753-3726753 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; diffuse_large_B_cell_lymphoma |
c.3394C>T; p.P1132S; |
skin | malignant_melanoma |
c.3367C>T; p.P1123S; |
skin | malignant_melanoma |
c.3368C>T; p.P1123L; |
skin | malignant_melanoma |
c.2356C>A; p.Q786K; |
skin; ear | carcinoma; squamous_cell_carcinoma |
c.2159-9C>T; p.?; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.1645T>G; p.S549A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.2567C>T; p.T856I; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.4061C>T; p.A1354V; 16:3730473-3730473 |
ovary | carcinoma; endometrioid_carcinoma |
c.1399G>A; p.A467T; 16:3772860-3772860 |
ovary | carcinoma; transitional_cell_carcinoma |
c.4477delA; p.I1493fs*57; 16:3726735-3726735 |
ovary | carcinoma; transitional_cell_carcinoma |
c.567delC; p.N190fs*8; 16:3840530-3840530 |
ovary | carcinoma; clear_cell_carcinoma |
c.3468C>T; p.D1156D; |
stomach | adenocarcinoma |
c.3305A>G; p.Y1102C; |
stomach | adenocarcinoma |
c.4243C>T; p.Q1415*; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; Burkitt_lymphoma |
c.4508A>C; p.Y1503S; |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; follicular_lymphoma |