Primary Site >> Esophagus Cancer

Gene >> COL11A2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000374708
Start 33179483:33179483(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs143965711
CDS Mutation c.1193C>T
AA Mutation p.Ala398Val(p.A398V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000374708
Start 33171115:33171115(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748271072
CDS Mutation c.3107C>T
AA Mutation p.Ala1036Val(p.A1036V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000374708
Start 33173920:33173920(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149071920
CDS Mutation c.2278C>T
AA Mutation p.Arg760Trp(p.R760W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000374708
Start 33177182:33177182(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1757A>C
AA Mutation p.Lys586Thr(p.K586T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000374708
Start 33179807:33179807(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1102-2A>G
Mutation Classification Splice_Site
Feature Type Transcript