Primary Site >> Esophagus Cancer

Gene >> COL11A1

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000370096
Start 103006302:103006302(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1697T>C
AA Mutation p.Val566Ala(p.V566A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000370096
Start 103031145:103031145(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.751G>T
AA Mutation p.Ala251Ser(p.A251S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000370096
Start 102879778:102879778(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5179A>C
AA Mutation p.Ser1727Arg(p.S1727R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000370096
Start 103031172:103031172(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.724G>A
AA Mutation p.Asp242Asn(p.D242N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000370096
Start 102878096:102878096(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5344G>T
AA Mutation p.Asp1782Tyr(p.D1782Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000370096
Start 102879832:102879832(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5125A>C
AA Mutation p.Asn1709His(p.N1709H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000370096
Start 102886986:102886986(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4679G>T
AA Mutation p.Gly1560Val(p.G1560V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000370096
Start 103025587:103025587(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.924A>C
AA Mutation p.Glu308Asp(p.E308D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000370096
Start 103001966:103001966(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771448295
CDS Mutation c.2101C>T
AA Mutation p.Leu701Phe(p.L701F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000370096
Start 102889520:102889520(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4399C>G
AA Mutation p.Gln1467Glu(p.Q1467E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000370096
Start 102914781:102914781(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3847G>A
AA Mutation p.Glu1283Lys(p.E1283K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000370096
Start 103006102:103006102(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1757G>C
AA Mutation p.Gly586Ala(p.G586A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000370096
Start 102898681:102898681(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4233C>A
Mutation Classification Silent
Feature Type Transcript
ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000370096
Start 102898738:102898738(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750903509
CDS Mutation c.4176C>A
Mutation Classification Silent
Feature Type Transcript
ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000370096
Start 102914779:102914779(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3849A>G
Mutation Classification Silent
Feature Type Transcript
ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000370096
Start 102978738:102978738(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201972285
CDS Mutation c.2724C>T
Mutation Classification Silent
Feature Type Transcript
ID 17
Mutation Consequence frameshift_variant
Transcription ID ENST00000370096
Start 103008511:103008511(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1635delG
AA Mutation p.Pro546LeufsTer87(p.P546Lfs*87)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 18
Mutation Consequence frameshift_variant
Transcription ID ENST00000370096
Start 102888745:102888745(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4532delC
AA Mutation p.Pro1511GlnfsTer76(p.P1511Qfs*76)
Mutation Classification Frame_Shift_Del
Feature Type Transcript