Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PTK2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140879631:140879631(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.202A>G
AA Mutation p.Ile68Val(p.I68V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140879523:140879523(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200017517
CDS Mutation c.310G>A
AA Mutation p.Val104Ile(p.V104I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140735384:140735384(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371607821
CDS Mutation c.1897G>A
AA Mutation p.Gly633Ser(p.G633S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140702673:140702673(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2264C>T
AA Mutation p.Ala755Val(p.A755V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140706128:140706128(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2220T>G
AA Mutation p.Asn740Lys(p.N740K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140706130:140706130(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2218A>G
AA Mutation p.Asn740Asp(p.N740D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140659479:140659479(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs746222859
CDS Mutation c.3146C>T
AA Mutation p.Thr1049Met(p.T1049M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140700919:140700919(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200596356
CDS Mutation c.2471G>A
AA Mutation p.Arg824His(p.R824H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140735284:140735284(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1997G>A
AA Mutation p.Arg666Gln(p.R666Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140830519:140830519(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.601G>A
AA Mutation p.Val201Ile(p.V201I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140700992:140700992(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2398G>T
AA Mutation p.Gly800Trp(p.G800W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140818887:140818887(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.782C>T
AA Mutation p.Ala261Val(p.A261V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140864383:140864383(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.379C>T
AA Mutation p.Arg127Cys(p.R127C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000521059
Start 140864312:140864312(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.450G>T
AA Mutation p.Gln150His(p.Q150H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140700959:140700959(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2431C>T
AA Mutation p.Arg811Cys(p.R811C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140890734:140890734(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775490424
CDS Mutation c.4G>A
AA Mutation p.Ala2Thr(p.A2T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000521059
Start 140800487:140800487(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146407650
CDS Mutation c.1065G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000521059
Start 140668404:140668404(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2730C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000521059
Start 140700918:140700918(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2472C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000521059
Start 140700945:140700945(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2445G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000521059
Start 140717679:140717679(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2061A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence frameshift_variant
Transcription ID ENST00000521059
Start 140668399:140668399(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.2735delC
AA Mutation p.Pro912LeufsTer17(p.P912Lfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 23
Mutation Consequence stop_gained
Transcription ID ENST00000521059
Start 140761221:140761221(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1276C>T
AA Mutation p.Arg426Ter(p.R426*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000521059
Start 140686695:140686695(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2500-1G>T
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> PTK2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140818940:140818940(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.729C>A
AA Mutation p.Phe243Leu(p.F243L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140864388:140864388(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.374G>A
AA Mutation p.Arg125Lys(p.R125K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000521059
Start 140879561:140879561(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.272G>A
AA Mutation p.Arg91Gln(p.R91Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000521059
Start 140761189:140761189(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1308A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 5
Mutation Consequence inframe_insertion
Transcription ID ENST00000521059
Start 140846306:140846307(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.546_547insCCA
AA Mutation p.Glu182_Met183insPro(p.E182_M183insP)
Mutation Classification In_Frame_Ins
Feature Type Transcript