Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> NLRP1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5582745:5582745(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.373C>T
AA Mutation p.Pro125Ser(p.P125S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000572272
Start 5520882:5520882(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3914A>G
AA Mutation p.Lys1305Arg(p.K1305R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5559554:5559554(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1142C>A
AA Mutation p.Ala381Asp(p.A381D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5521588:5521588(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199948263
CDS Mutation c.3719G>A
AA Mutation p.Arg1240His(p.R1240H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5558510:5558510(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2186C>T
AA Mutation p.Thr729Met(p.T729M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5559965:5559965(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs199648641
CDS Mutation c.731C>T
AA Mutation p.Ala244Val(p.A244V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5514897:5514897(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754014640
CDS Mutation c.4279C>T
AA Mutation p.Arg1427Trp(p.R1427W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5553523:5553523(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2391G>T
AA Mutation p.Trp797Cys(p.W797C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5559989:5559989(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs755871217
CDS Mutation c.707C>T
AA Mutation p.Ala236Val(p.A236V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5532918:5532918(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3200A>T
AA Mutation p.Asp1067Val(p.D1067V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5520918:5520918(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3878C>T
AA Mutation p.Ser1293Phe(p.S1293F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5582741:5582741(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779228750
CDS Mutation c.377C>T
AA Mutation p.Ala126Val(p.A126V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5558502:5558502(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2194A>G
AA Mutation p.Thr732Ala(p.T732A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5582742:5582742(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.376G>A
AA Mutation p.Ala126Thr(p.A126T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5558430:5558430(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2266T>G
AA Mutation p.Phe756Val(p.F756V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5558978:5558978(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1718C>A
AA Mutation p.Ser573Tyr(p.S573Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000572272
Start 5583760:5583760(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.198C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000572272
Start 5582001:5582001(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.510C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000572272
Start 5559325:5559325(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756445565
CDS Mutation c.1371G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000572272
Start 5558428:5558428(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2268C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000572272
Start 5558650:5558650(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs141912879
CDS Mutation c.2046G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000572272
Start 5530662:5530662(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3339G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000572272
Start 5515041:5515041(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4135C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000572272
Start 5515033:5515033(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4143T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000572272
Start 5532944:5532944(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3174C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000572272
Start 5559366:5559366(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201719686
CDS Mutation c.1330C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence frameshift_variant
Transcription ID ENST00000572272
Start 5558948:5558948(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1748delA
AA Mutation p.Lys583ArgfsTer14(p.K583Rfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 28
Mutation Consequence frameshift_variant
Transcription ID ENST00000572272
Start 5514779:5514779(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4397delA
AA Mutation p.Lys1466ArgfsTer?(p.K1466Rfs*?)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 29
Mutation Consequence stop_gained
Transcription ID ENST00000572272
Start 5583732:5583732(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.226C>T
AA Mutation p.Gln76Ter(p.Q76*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 30
Mutation Consequence stop_gained
Transcription ID ENST00000572272
Start 5539467:5539467(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs193920788
CDS Mutation c.2818C>T
AA Mutation p.Arg940Ter(p.R940*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 31
Mutation Consequence stop_gained
Transcription ID ENST00000572272
Start 5517857:5517857(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3946G>T
AA Mutation p.Glu1316Ter(p.E1316*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 32
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000572272
Start 5542028:5542028(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2529-1G>T
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> NLRP1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5514905:5514905(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4271G>T
AA Mutation p.Ser1424Ile(p.S1424I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5559778:5559778(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.918G>T
AA Mutation p.Glu306Asp(p.E306D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000572272
Start 5558849:5558849(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1847C>A
AA Mutation p.Pro616His(p.P616H)
Mutation Classification Missense_Mutation
Feature Type Transcript