Primary Site >> Liver Cancer

Gene >> COL11A2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000374708
Start 33168539:33168539(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3682C>A
AA Mutation p.Pro1228Thr(p.P1228T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000374708
Start 33176271:33176271(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1944T>A
AA Mutation p.His648Gln(p.H648Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000374708
Start 33176287:33176287(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs61730262
CDS Mutation c.1928G>A
AA Mutation p.Arg643Gln(p.R643Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000374708
Start 33165762:33165762(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199615717
CDS Mutation c.4279C>T
AA Mutation p.Arg1427Trp(p.R1427W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000374708
Start 33176295:33176295(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs138650682
CDS Mutation c.1920C>T
Mutation Classification Silent
Feature Type Transcript
ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000374708
Start 33177214:33177214(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1725G>T
Mutation Classification Silent
Feature Type Transcript
ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000374708
Start 33186705:33186705(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.720G>A
Mutation Classification Silent
Feature Type Transcript
ID 8
Mutation Consequence frameshift_variant
Transcription ID ENST00000374708
Start 33186654:33186654(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.771delG
AA Mutation p.Arg257SerfsTer39(p.R257Sfs*39)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 9
Mutation Consequence frameshift_variant
Transcription ID ENST00000374708
Start 33167273:33167274(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3908dupC
AA Mutation p.Gly1304ArgfsTer35(p.G1304Rfs*35)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 10
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000374708
Start 33177227:33177227(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1714-2A>G
Mutation Classification Splice_Site
Feature Type Transcript
ID 11
Mutation Consequence inframe_insertion
Transcription ID ENST00000374708
Start 33177426:33177427(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1696_1698dupGGC
AA Mutation p.Gly566dup(p.G566dup)
Mutation Classification In_Frame_Ins
Feature Type Transcript