Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> RSPH1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000291536
Start 42482642:42482642(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.568G>T
AA Mutation p.Asp190Tyr(p.D190Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000291536
Start 42493001:42493001(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.133G>A
AA Mutation p.Glu45Lys(p.E45K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000291536
Start 42475960:42475960(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.815A>C
AA Mutation p.Asp272Ala(p.D272A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000291536
Start 42493037:42493037(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758004402
CDS Mutation c.97C>T
AA Mutation p.Arg33Cys(p.R33C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000291536
Start 42486435:42486435(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769151189
CDS Mutation c.301G>A
AA Mutation p.Gly101Ser(p.G101S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000291536
Start 42493022:42493022(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.112C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000291536
Start 42475938:42475938(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766003560
CDS Mutation c.837G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000291536
Start 42477325:42477325(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372338741
CDS Mutation c.693G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000291536
Start 42486400:42486400(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.336C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000291536
Start 42492984:42492984(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752263023
CDS Mutation c.150C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000291536
Start 42493066:42493066(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.68delG
AA Mutation p.Gly23ValfsTer120(p.G23Vfs*120)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000291536
Start 42496169:42496170(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.17_18insA
AA Mutation p.Glu7GlyfsTer10(p.E7Gfs*10)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> RSPH1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000291536
Start 42485695:42485695(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.475T>C
AA Mutation p.Tyr159His(p.Y159H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000291536
Start 42492976:42492976(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.158G>T
AA Mutation p.Arg53Ile(p.R53I)
Mutation Classification Missense_Mutation
Feature Type Transcript