Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ERAP1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96803410:96803410(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.517G>A
AA Mutation p.Glu173Lys(p.E173K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96793441:96793441(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1147G>A
AA Mutation p.Glu383Lys(p.E383K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96803548:96803548(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.379C>A
AA Mutation p.Arg127Ser(p.R127S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96783186:96783186(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2150C>T
AA Mutation p.Thr717Ile(p.T717I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96785824:96785824(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144333828
CDS Mutation c.1907G>A
AA Mutation p.Arg636Gln(p.R636Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96785864:96785864(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1867C>A
AA Mutation p.Leu623Ile(p.L623I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96786544:96786544(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1685T>G
AA Mutation p.Leu562Arg(p.L562R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96786536:96786536(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1693G>A
AA Mutation p.Val565Ile(p.V565I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000443439
Start 96783182:96783182(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760000780
CDS Mutation c.2154C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000443439
Start 96788539:96788539(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs750054478
CDS Mutation c.1671G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000443439
Start 96803528:96803528(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.399G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence frameshift_variant
Transcription ID ENST00000443439
Start 96786479:96786479(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1750delA
AA Mutation p.Thr584GlnfsTer21(p.T584Qfs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000443439
Start 96803547:96803547(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.380delG
AA Mutation p.Arg127LeufsTer48(p.R127Lfs*48)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 14
Mutation Consequence frameshift_variant
Transcription ID ENST00000443439
Start 96781837:96781838(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2302_2303insATTTC
AA Mutation p.Thr768AsnfsTer53(p.T768Nfs*53)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 15
Mutation Consequence inframe_insertion
Transcription ID ENST00000443439
Start 96800988:96800989(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.536_537insCTATAGAAA
AA Mutation p.Ser179_Thr180insTyrArgLys(p.S179_T180insYRK)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> ERAP1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96785842:96785842(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1889C>T
AA Mutation p.Ala630Val(p.A630V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96795116:96795116(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.845C>T
AA Mutation p.Ala282Val(p.A282V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96797257:96797257(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.716C>T
AA Mutation p.Thr239Ile(p.T239I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96783079:96783079(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2257A>C
AA Mutation p.Lys753Gln(p.K753Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96785914:96785914(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1817G>T
AA Mutation p.Gly606Val(p.G606V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000443439
Start 96790598:96790598(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs150674566
CDS Mutation c.1366G>A
AA Mutation p.Ala456Thr(p.A456T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000443439
Start 96784029:96784029(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1995A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence stop_gained
Transcription ID ENST00000443439
Start 96784045:96784045(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1979T>A
AA Mutation p.Leu660Ter(p.L660*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence stop_gained
Transcription ID ENST00000443439
Start 96800946:96800946(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.579C>A
AA Mutation p.Cys193Ter(p.C193*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript