Primary Site >> Biliary tract Cancer

Gene >> MUC5B

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000529681
Start 1235209:1235209(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2755T>G
AA Mutation p.Tyr919Asp(p.Y919D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000529681
Start 1252451:1252451(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377111871
CDS Mutation c.14972C>T
AA Mutation p.Pro4991Leu(p.P4991L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000529681
Start 1226229:1226229(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754603108
CDS Mutation c.152G>A
AA Mutation p.Arg51Gln(p.R51Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000529681
Start 1242612:1242612(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5732C>G
AA Mutation p.Thr1911Ser(p.T1911S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000529681
Start 1258999:1258999(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.16651G>T
AA Mutation p.Asp5551Tyr(p.D5551Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000529681
Start 1240324:1240324(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3919G>T
AA Mutation p.Ala1307Ser(p.A1307S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000529681
Start 1248631:1248631(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11751A>G
Mutation Classification Silent
Feature Type Transcript
ID 8
Mutation Consequence frameshift_variant
Transcription ID ENST00000529681
Start 1242688:1242689(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.5811dupA
AA Mutation p.Val1938SerfsTer186(p.V1938Sfs*186)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript