Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> POT1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000357628
Start 124863546:124863546(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.350G>A
AA Mutation p.Arg117His(p.R117H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000357628
Start 124825294:124825294(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1750G>T
AA Mutation p.Asp584Tyr(p.D584Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000357628
Start 124842934:124842934(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1036A>G
AA Mutation p.Thr346Ala(p.T346A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000357628
Start 124892292:124892292(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.98A>G
AA Mutation p.Lys33Arg(p.K33R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000357628
Start 124892355:124892355(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.35C>T
AA Mutation p.Thr12Ile(p.T12I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000357628
Start 124859102:124859102(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.557G>A
AA Mutation p.Gly186Asp(p.G186D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000357628
Start 124841100:124841100(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1242A>T
AA Mutation p.Gln414His(p.Q414H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000357628
Start 124829280:124829280(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1568C>T
AA Mutation p.Ser523Leu(p.S523L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000357628
Start 124842815:124842815(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1155T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000357628
Start 124842860:124842860(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1110G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence frameshift_variant
Transcription ID ENST00000357628
Start 124870942:124870942(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.224delA
AA Mutation p.Asn75MetfsTer10(p.N75Mfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000357628
Start 124863398:124863398(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.498T>A
AA Mutation p.Cys166Ter(p.C166*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000357628
Start 124824019:124824020(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1847_1848insCCATGCTA
AA Mutation p.Asp617HisfsTer20(p.D617Hfs*20)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> POT1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000357628
Start 124892297:124892297(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.93C>A
AA Mutation p.Phe31Leu(p.F31L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000357628
Start 124827225:124827225(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1675C>T
AA Mutation p.Leu559Phe(p.L559F)
Mutation Classification Missense_Mutation
Feature Type Transcript