Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

84295

Name

PHF6

Synonymous

PHD finger protein 6;PHF6;PHD finger protein 6

Definition

PHD-like zinc finger protein|centromere protein 31

Position

Xq26.3

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

Top

Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.49.

The copy number variations for various cancers

Top

There is no record for PHF6

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.587G>A; p.R196K; 23:134413824-134413824

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.83_101>AT; p.C28fs*2; 23:134377700-134377718

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaComplex - frameshift

c.600_600delA; p.H201fs*17; 23:134413837-134413837

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaDeletion - Frameshift

c.866C>A; p.T289N; 23:134417200-134417200

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelofibrosisSubstitution - Missense

c.821G>A; p.R274Q; 23:134415107-134415107

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.821G>A; p.R274Q; 23:134415107-134415107

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.821G>A; p.R274Q; 23:134415107-134415107

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.638G>T; p.G213V; 23:134413875-134413875

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.902_903insA; p.Y301fs*1; 23:134417236-134417237

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.130A>T; p.K44*; 23:134377747-134377747

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Nonsense

c.92T>G; p.L31*; 23:134377709-134377709

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Nonsense

c.986A>T; p.H329L; 23:134425218-134425218

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.719A>G; p.Y240C; 23:134413956-134413956

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.69_70insA; p.R24fs*12; 23:134377686-134377687

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeInsertion - Frameshift

c.941T>A; p.I314N; 23:134417275-134417275

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.91_101del11; p.L31fs*1; 23:134377708-134377718

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_leukaemiaDeletion - Frameshift

c.396G>T; p.K132N; 23:134393930-134393930

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.868A>T; p.I290F; 23:134417202-134417202

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; angioimmunoblastic_T_cell_lymphomaSubstitution - Missense

c.674G>A; p.R225Q; 23:134413911-134413911

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.871G>T; p.G291*; 23:134417205-134417205

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Nonsense

c.730-1G>C; p.?; 23:134415015-134415015

 ovarycarcinoma; serous_carcinomaUnknown

c.725G>A; p.C242Y; 23:134413962-134413962

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.725G>A; p.C242Y; 23:134413962-134413962

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.725G>A; p.C242Y; 23:134413962-134413962

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemia_therapy_relatedSubstitution - Missense

c.725G>A; p.C242Y; 23:134413962-134413962

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.469delA; p.S158fs*60; 23:134413541-134413541

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaDeletion - Frameshift

c.351G>T; p.E117D; 23:134393611-134393611

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.5C>G; p.S2*; 23:134377622-134377622

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.955C>T; p.R319*; 23:134417289-134417289

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Nonsense

c.955C>T; p.R319*; 23:134417289-134417289

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.512A>T; p.N171I; 23:134413584-134413584

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.955C>T; p.R319*; 23:134417289-134417289

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.585+1G>A; p.?; 23:134413658-134413658

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.955C>T; p.R319*; 23:134417289-134417289

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.955C>T; p.R319*; 23:134417289-134417289

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.513delT; p.F172fs*46; 23:134413585-134413585

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaDeletion - Frameshift

c.955C>T; p.R319*; 23:134417289-134417289

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.903C>A; p.Y301*; 23:134417237-134417237

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.1088A>G; p.N363S; 23:134425320-134425320

 livercarcinomaSubstitution - Missense

c.1088A>G; p.N363S; 23:134425320-134425320

 livercarcinomaSubstitution - Missense

c.585+6_585+7insA; p.?; 23:134413663-134413664

 skinmalignant_melanomaUnknown

c.890G>A; p.C297Y; 23:134417224-134417224

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.414C>T; p.S138S; 23:134393948-134393948

 upper_aerodigestive_tract; mouthcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.414C>T; p.S138S; 23:134393948-134393948

 upper_aerodigestive_tract; mouthcarcinomaSubstitution - coding silent

c.65_66insA; p.N23fs*2; 23:134377682-134377683

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaInsertion - Frameshift

c.953delC; p.S318fs*33; 23:134417287-134417287

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeDeletion - Frameshift

c.202G>T; p.E68*; 23:134378068-134378068

 urinary_tract; bladdercarcinomaSubstitution - Nonsense

c.953delC; p.S318fs*33; 23:134417287-134417287

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaDeletion - Frameshift

c.968+1_968+2delGT; p.?; 23:134417303-134417304

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.187G>T; p.G63C; 23:134378053-134378053

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.643T>C; p.C215R; 23:134413880-134413880

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.267_268insTTAGGACC; p.A90fs*10; 23:134393527-134393528

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.70A>G; p.R24G; 23:134377687-134377687

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.565G>A; p.E189K; 23:134413637-134413637

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.415G>T; p.E139*; 23:134393949-134393949

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.415G>T; p.E139*; 23:134393949-134393949

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Nonsense

c.736_737insTT; p.S246fs*34; 23:134415022-134415023

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.982A>T; p.N328Y; 23:134425214-134425214

 breastcarcinomaSubstitution - Missense

c.61delA; p.K21fs*12; 23:134377678-134377678

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeDeletion - Frameshift

c.903C>T; p.Y301Y; 23:134417237-134417237

 skinmalignant_melanomaSubstitution - coding silent

c.1024C>T; p.R342*; 23:134425256-134425256

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.374+1G>T; p.?; 23:134393635-134393635

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.808C>T; p.Q270*; 23:134415094-134415094

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.374+1G>T; p.?; 23:134393635-134393635

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.865A>G; p.T289A; 23:134417199-134417199

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.933_934insT; p.K312fs*1; 23:134417267-134417268

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.256C>T; p.H86Y; 23:134393516-134393516

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.737C>A; p.S246Y; 23:134415023-134415023

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.1018G>A; p.E340K; 23:134425250-134425250

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; polycythaemia_veraSubstitution - Missense

c.123_124insAGGCA; p.H42fs*41; 23:134377740-134377741

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.820C>T; p.R274*; 23:134415106-134415106

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.820C>T; p.R274*; 23:134415106-134415106

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.820C>T; p.R274*; 23:134415106-134415106

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.820C>T; p.R274*; 23:134415106-134415106

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.897G>T; p.K299N; 23:134417231-134417231

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.418+8A>G; p.?; 23:134393960-134393960

 livercarcinomaUnknown

c.308_309insA; p.Y103fs*1; 23:134393568-134393569

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeInsertion - Frameshift

c.790G>C; p.D264H; 23:134415076-134415076

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.875G>C; p.C292S; 23:134417209-134417209

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.634_635delTG; p.C212fs*11; 23:134413871-134413872

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemiaDeletion - Frameshift

c.972A>G; p.L324L; 23:134425204-134425204

 lungcarcinoma; adenocarcinomaSubstitution - coding silent

c.356C>A; p.P119H; 23:134393616-134393616

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.835_835delA; p.K279fs*16; 23:134417169-134417169

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaDeletion - Frameshift

c.806T>C; p.L269P; 23:134415092-134415092

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.720T>G; p.Y240*; 23:134413957-134413957

 kidneyother; neoplasmSubstitution - Nonsense

c.570G>T; p.M190I; 23:134413642-134413642

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.833T>A; p.M278K; 23:134415119-134415119

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.554_580>CCCGGGGA; p.H185fs*27; 23:134413626-134413652

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaComplex - frameshift

c.375-1G>A; p.?; 23:134393908-134393908

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.973T>C; p.Y325H; 23:134425205-134425205

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.374+1G>A; p.?; 23:134393635-134393635

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmUnknown

c.128_129insGAGTC; p.H43fs*40; 23:134377745-134377746

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.673C>T; p.R225*; 23:134413910-134413910

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Nonsense

c.673C>T; p.R225*; 23:134413910-134413910

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.673C>T; p.R225*; 23:134413910-134413910

 livercarcinoma; hepatocellular_carcinomaSubstitution - Nonsense

c.823G>A; p.G275R; 23:134415109-134415109

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.491A>G; p.K164R; 23:134413563-134413563

 skinmalignant_melanomaSubstitution - Missense

c.742G>T; p.G248C; 23:134415028-134415028

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.17A>C; p.E6A; 23:134377634-134377634

 pancreascarcinomaSubstitution - Missense

c.567A>T; p.E189D; 23:134413639-134413639

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.811G>A; p.E271K; 23:134415097-134415097

 skin; scalpcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.393C>A; p.H131Q; 23:134393927-134393927

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.385C>T; p.R129*; 23:134393919-134393919

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.385C>T; p.R129*; 23:134393919-134393919

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.385C>T; p.R129*; 23:134393919-134393919

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.847T>A; p.C283S; 23:134417181-134417181

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.653_667>13; p.G218fs*3; 23:134413890-134413904

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaComplex - frameshift

c.631A>G; p.K211E; 23:134413868-134413868

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.409_418del10; p.N137fs*3; 23:134393943-134393952

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemiaDeletion - Frameshift

c.968+2_968+5delTAAG; p.?; 23:134417304-134417307

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.586-1G>T; p.?; 23:134413822-134413822

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaUnknown

c.954A>G; p.S318S; 23:134417288-134417288

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.916G>T; p.G306*; 23:134417250-134417250

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.378C>G; p.V126V; 23:134393912-134393912

 oesophaguscarcinoma; adenocarcinomaSubstitution - coding silent

c.525_526delGT; p.S176fs*13; 23:134413597-134413598

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaDeletion - Frameshift

c.347G>A; p.R116Q; 23:134393607-134393607

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.129T>A; p.H43Q; 23:134377746-134377746

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.418+2T>C; p.?; 23:134393954-134393954

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasmUnknown

c.347G>A; p.R116Q; 23:134393607-134393607

 breastcarcinomaSubstitution - Missense

c.636_637insGGATA; p.F214fs*1; 23:134413873-134413874

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaInsertion - Frameshift

c.418G>A; p.A140T; 23:134393952-134393952

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.407_408insT; p.N137fs*1; 23:134393941-134393942

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.407delA; p.H136fs*7; 23:134393941-134393941

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaDeletion - Frameshift

c.986A>C; p.H329P; 23:134425218-134425218

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.537C>T; p.T179T; 23:134413609-134413609

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.457C>T; p.P153S; 23:134413529-134413529

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.986A>G; p.H329R; 23:134425218-134425218

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.421G>A; p.D141N; 23:134413493-134413493

 breastcarcinomaSubstitution - Missense

c.986A>G; p.H329R; 23:134425218-134425218

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.874T>C; p.C292R; 23:134417208-134417208

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.860G>T; p.G287V; 23:134417194-134417194

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.860G>T; p.G287V; 23:134417194-134417194

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.415G>A; p.E139K; 23:134393949-134393949

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.3G>C; p.M1I; 23:134377620-134377620

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.860G>T; p.G287V; 23:134417194-134417194

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - Missense

c.22_23insA; p.G10fs*12; 23:134377639-134377640

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.596C>G; p.S199C; 23:134413833-134413833

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.66_69delAAAT; p.N23fs*9; 23:134377683-134377686

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaDeletion - Frameshift

c.261T>A; p.C87*; 23:134393521-134393521

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.943G>C; p.E315Q; 23:134417277-134417277

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.2T>A; p.M1K; 23:134377619-134377619

 pancreascarcinomaSubstitution - Missense

c.2T>A; p.M1K; 23:134377619-134377619

 pancreascarcinoma; ductal_carcinomaSubstitution - Missense

c.892G>A; p.V298I; 23:134417226-134417226

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.968+1G>A; p.?; 23:134417303-134417303

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.978T>G; p.C326W; 23:134425210-134425210

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.346C>T; p.R116*; 23:134393606-134393606

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.346C>T; p.R116*; 23:134393606-134393606

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.93_94insC; p.L32fs*4; 23:134377710-134377711

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.346C>T; p.R116*; 23:134393606-134393606

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.346C>T; p.R116*; 23:134393606-134393606

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.27_28insA; p.G10fs*12; 23:134377644-134377645

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaInsertion - Frameshift

c.346C>T; p.R116*; 23:134393606-134393606

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.346C>T; p.R116*; 23:134393606-134393606

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.346C>T; p.R116*; 23:134393606-134393606

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.346C>T; p.R116*; 23:134393606-134393606

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.90_91insCCCG; p.L31fs*6; 23:134377707-134377708

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.786_787insT; p.D264fs*1; 23:134415072-134415073

 endometriumcarcinoma; endometrioid_carcinomaInsertion - Frameshift

c.277G>T; p.G93C; 23:134393537-134393537

 thyroidcarcinomaSubstitution - Missense

c.730-1G>T; p.?; 23:134415015-134415015

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.730-1G>T; p.?; 23:134415015-134415015

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.789_790insGC; p.D264fs*16; 23:134415075-134415076

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.461_462delCA; p.S154fs*3; 23:134413533-134413534

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaDeletion - Frameshift

c.807_808insGGCCCCTC; p.Q270fs*12; 23:134415093-134415094

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.313T>C; p.Y105H; 23:134393573-134393573

 livercarcinomaSubstitution - Missense

c.410A>G; p.N137S; 23:134393944-134393944

 central_nervous_system; braingliomaSubstitution - Missense

c.888C>T; p.A296A; 23:134417222-134417222

 skinmalignant_melanomaSubstitution - coding silent

c.137+2G>A; p.?; 23:134377756-134377756

 urinary_tract; bladdercarcinomaUnknown

c.289A>T; p.K97*; 23:134393549-134393549

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Nonsense

c.119C>T; p.A40V; 23:134377736-134377736

 large_intestine; colonNSSubstitution - Missense

c.898A>G; p.T300A; 23:134417232-134417232

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.76_95>TTGG; p.K26fs*50; 23:134377693-134377712

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaComplex - frameshift

c.882A>G; p.I294M; 23:134417216-134417216

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.834+1G>A; p.?; 23:134415121-134415121

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.956G>T; p.R319L; 23:134417290-134417290

 urinary_tract; bladdercarcinoma; transitional_cell_carcinomaSubstitution - Missense

c.956G>T; p.R319L; 23:134417290-134417290

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.834+1G>A; p.?; 23:134415121-134415121

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaUnknown

c.882A>G; p.I294M; 23:134417216-134417216

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaSubstitution - Missense

c.751C>A; p.Q251K; 23:134415037-134415037

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.404C>T; p.A135V; 23:134393938-134393938

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; blast_phase_chronic_myeloid_leukaemiaSubstitution - Missense

c.340_341insA; p.I115fs*23; 23:134393600-134393601

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.941T>C; p.I314T; 23:134417275-134417275

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; chronic_myelomonocytic_leukaemiaSubstitution - Missense

c.941T>C; p.I314T; 23:134417275-134417275

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; myelodysplastic_syndromeSubstitution - Missense

c.779_780ins11; p.D262fs*21; 23:134415065-134415066

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemiaInsertion - Frameshift

c.506A>C; p.K169T; 23:134413578-134413578

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

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