Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> BRCA1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000357654
Start 43093070:43093070(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2461G>T
AA Mutation p.Asp821Tyr(p.D821Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000357654
Start 43124078:43124078(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80356994
CDS Mutation c.19C>T
AA Mutation p.Arg7Cys(p.R7C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000357654
Start 43092812:43092812(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2719G>A
AA Mutation p.Glu907Lys(p.E907K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000357654
Start 43091792:43091792(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80357191
CDS Mutation c.3739G>A
AA Mutation p.Val1247Ile(p.V1247I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000357654
Start 43092448:43092448(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80357459
CDS Mutation c.3083G>A
AA Mutation p.Arg1028His(p.R1028H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000357654
Start 43095847:43095847(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.669G>C
AA Mutation p.Lys223Asn(p.K223N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000357654
Start 43091807:43091807(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80357037
CDS Mutation c.3724A>G
AA Mutation p.Thr1242Ala(p.T1242A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000357654
Start 43094065:43094065(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1466A>G
AA Mutation p.Glu489Gly(p.E489G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000357654
Start 43091578:43091578(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3953T>C
AA Mutation p.Ile1318Thr(p.I1318T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000357654
Start 43093462:43093462(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2069A>G
AA Mutation p.Lys690Arg(p.K690R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000357654
Start 43093090:43093090(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2441T>C
AA Mutation p.Leu814Pro(p.L814P)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000357654
Start 43091757:43091757(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs431825399
CDS Mutation c.3774G>T
AA Mutation p.Glu1258Asp(p.E1258D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000357654
Start 43063908:43063908(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5118A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000357654
Start 43071021:43071021(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80356850
CDS Mutation c.4893T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000357654
Start 43124076:43124076(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149402012
CDS Mutation c.21C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000357654
Start 43093815:43093815(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1716A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000357654
Start 43106497:43106497(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.171G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000357654
Start 43082459:43082459(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4302T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence stop_gained
Transcription ID ENST00000357654
Start 43074498:43074498(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs80357437
CDS Mutation c.4508C>A
AA Mutation p.Ser1503Ter(p.S1503*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence stop_gained
Transcription ID ENST00000357654
Start 43095909:43095909(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.607G>T
AA Mutation p.Glu203Ter(p.E203*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence frameshift_variant
Transcription ID ENST00000357654
Start 43104233:43104234(version: GRCh38)
Mutation Type INS
dbSNP_RS rs80357604
CDS Mutation c.329dupA
AA Mutation p.Glu111GlyfsTer3(p.E111Gfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 22
Mutation Consequence frameshift_variant
Transcription ID ENST00000357654
Start 43093315:43093316(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.2214_2215dupTA
AA Mutation p.Lys739IlefsTer15(p.K739Ifs*15)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> BRCA1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000357654
Start 43092233:43092233(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3298G>A
AA Mutation p.Gly1100Arg(p.G1100R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000357654
Start 43094172:43094172(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1359G>T
AA Mutation p.Glu453Asp(p.E453D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000357654
Start 43104902:43104902(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.267C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 4
Mutation Consequence stop_gained
Transcription ID ENST00000357654
Start 43093817:43093817(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs730881473
CDS Mutation c.1714G>T
AA Mutation p.Glu572Ter(p.E572*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript