Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> TBX5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114356079:114356079(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1010C>T
AA Mutation p.Pro337Leu(p.P337L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114355668:114355668(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1421C>G
AA Mutation p.Thr474Ser(p.T474S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114399573:114399573(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.302T>C
AA Mutation p.Ile101Thr(p.I101T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114403822:114403822(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.77C>T
AA Mutation p.Ser26Leu(p.S26L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114366318:114366318(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369697961
CDS Mutation c.829G>A
AA Mutation p.Glu277Lys(p.E277K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114366378:114366378(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200382742
CDS Mutation c.769G>A
AA Mutation p.Val257Met(p.V257M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114385489:114385489(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.742T>C
AA Mutation p.Ser248Pro(p.S248P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114355776:114355776(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs557758851
CDS Mutation c.1313G>A
AA Mutation p.Arg438Gln(p.R438Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114355843:114355843(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1246C>A
AA Mutation p.Gln416Lys(p.Q416K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114366194:114366194(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.953G>A
AA Mutation p.Ser318Asn(p.S318N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114403861:114403861(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.38C>T
AA Mutation p.Thr13Met(p.T13M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114355966:114355966(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377532269
CDS Mutation c.1123C>T
AA Mutation p.Arg375Trp(p.R375W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114394826:114394826(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.578G>T
AA Mutation p.Gly193Val(p.G193V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114355855:114355855(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs114124210
CDS Mutation c.1234G>A
AA Mutation p.Val412Ile(p.V412I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114399565:114399565(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.310A>G
AA Mutation p.Met104Val(p.M104V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114403867:114403867(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.32C>T
AA Mutation p.Ala11Val(p.A11V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000310346
Start 114403866:114403866(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000310346
Start 114398651:114398651(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs146038442
CDS Mutation c.432C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000310346
Start 114385562:114385562(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs376519728
CDS Mutation c.669G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000310346
Start 114403884:114403884(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767487291
CDS Mutation c.15C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000310346
Start 114394855:114394855(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.549A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000310346
Start 114398657:114398657(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.426C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000310346
Start 114355571:114355571(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767955877
CDS Mutation c.1518C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000310346
Start 114394804:114394804(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139329918
CDS Mutation c.600G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000310346
Start 114355889:114355889(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751588696
CDS Mutation c.1200G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence frameshift_variant
Transcription ID ENST00000310346
Start 114355931:114355931(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1158delC
AA Mutation p.Ser387AlafsTer7(p.S387Afs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 27
Mutation Consequence frameshift_variant
Transcription ID ENST00000310346
Start 114355634:114355635(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1454dupC
AA Mutation p.Glu486Ter(p.E486*)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> TBX5

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114403892:114403892(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.7G>A
AA Mutation p.Asp3Asn(p.D3N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114366243:114366243(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.904C>A
AA Mutation p.Gln302Lys(p.Q302K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000310346
Start 114355918:114355918(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755849744
CDS Mutation c.1171C>T
AA Mutation p.Pro391Ser(p.P391S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000310346
Start 114403866:114403866(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.33G>A
Mutation Classification Silent
Feature Type Transcript