Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EML4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000318522
Start 42263261:42263261(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.596C>A
AA Mutation p.Pro199His(p.P199H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000318522
Start 42301354:42301354(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1603C>A
AA Mutation p.Leu535Met(p.L535M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000318522
Start 42288258:42288258(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1154A>T
AA Mutation p.Asp385Val(p.D385V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000318522
Start 42282875:42282875(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs573955552
CDS Mutation c.844G>A
AA Mutation p.Gly282Arg(p.G282R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000318522
Start 42329919:42329919(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2658C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000318522
Start 42328935:42328935(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2391A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000318522
Start 42256544:42256544(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.252C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000318522
Start 42329892:42329892(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766491420
CDS Mutation c.2631G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000318522
Start 42282871:42282871(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372736784
CDS Mutation c.840G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence frameshift_variant
Transcription ID ENST00000318522
Start 42303145:42303145(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1685delA
AA Mutation p.Lys562ArgfsTer6(p.K562Rfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000318522
Start 42261162:42261162(version: GRCh38)
Mutation Type DEL
dbSNP_RS rs770453803
CDS Mutation c.387delA
AA Mutation p.Glu130ArgfsTer43(p.E130Rfs*43)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000318522
Start 42261162:42261163(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.386_387delAA
AA Mutation p.Lys129ArgfsTer6(p.K129Rfs*6)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 13
Mutation Consequence stop_gained
Transcription ID ENST00000318522
Start 42256591:42256591(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.299C>A
AA Mutation p.Ser100Ter(p.S100*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence splice_donor_variant
Transcription ID ENST00000318522
Start 42295518:42295518(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1489+2T>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> EML4

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000318522
Start 42329941:42329941(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2680C>A
AA Mutation p.Gln894Lys(p.Q894K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000318522
Start 42245590:42245590(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.111A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 3
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000318522
Start 42328884:42328884(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2342-2A>G
Mutation Classification Splice_Site
Feature Type Transcript