Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> BCKDHA

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000269980
Start 41423042:41423042(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs139556493
CDS Mutation c.1040C>T
AA Mutation p.Ser347Leu(p.S347L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000269980
Start 41422253:41422253(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs536540966
CDS Mutation c.736G>A
AA Mutation p.Ala246Thr(p.A246T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000269980
Start 41410784:41410784(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.256G>T
AA Mutation p.Gly86Cys(p.G86C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000269980
Start 41424573:41424573(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749876943
CDS Mutation c.1303G>A
AA Mutation p.Gly435Arg(p.G435R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000269980
Start 41410767:41410767(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768944277
CDS Mutation c.239G>A
AA Mutation p.Arg80His(p.R80H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000269980
Start 41423162:41423162(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1160G>A
AA Mutation p.Arg387His(p.R387H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000269980
Start 41424522:41424522(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs368567109
CDS Mutation c.1252G>A
AA Mutation p.Ala418Thr(p.A418T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000269980
Start 41419257:41419257(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.607G>A
AA Mutation p.Val203Ile(p.V203I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000269980
Start 41410697:41410697(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs764481217
CDS Mutation c.169G>A
AA Mutation p.Ala57Thr(p.A57T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000269980
Start 41424532:41424532(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs535975575
CDS Mutation c.1262G>A
AA Mutation p.Arg421His(p.R421H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000269980
Start 41422335:41422335(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.818C>T
AA Mutation p.Thr273Met(p.T273M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000269980
Start 41423102:41423102(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1100A>G
AA Mutation p.Tyr367Cys(p.Y367C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000269980
Start 41410927:41410927(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs532803527
CDS Mutation c.293C>T
AA Mutation p.Pro98Leu(p.P98L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000269980
Start 41410660:41410660(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.132G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000269980
Start 41423133:41423133(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1131G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000269980
Start 41422336:41422336(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201991385
CDS Mutation c.819G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000269980
Start 41422744:41422744(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.969C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000269980
Start 41410639:41410639(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs750560998
CDS Mutation c.117delC
AA Mutation p.Arg40GlyfsTer23(p.R40Gfs*23)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 19
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000269980
Start 41410638:41410639(version: GRCh38)
Mutation Type INS
dbSNP_RS rs762133013
CDS Mutation c.117dupC
AA Mutation p.Arg40GlnfsTer11(p.R40Qfs*11)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 20
Mutation Consequence inframe_deletion
Transcription ID ENST00000269980
Start 41423135:41423137(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1135_1137delGAG
AA Mutation p.Glu379del(p.E379del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> BCKDHA

No Mutation Annotation!