Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PNPLA6

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7559096:7559096(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3674G>A
AA Mutation p.Arg1225His(p.R1225H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7550333:7550333(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1877C>T
AA Mutation p.Ala626Val(p.A626V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7560738:7560738(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3820G>A
AA Mutation p.Asp1274Asn(p.D1274N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7542590:7542590(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1309G>T
AA Mutation p.Asp437Tyr(p.D437Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7541990:7541990(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1202C>A
AA Mutation p.Pro401His(p.P401H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7553919:7553919(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2335G>A
AA Mutation p.Ala779Thr(p.A779T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7554233:7554233(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2456A>G
AA Mutation p.Asp819Gly(p.D819G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7555261:7555261(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2860G>A
AA Mutation p.Glu954Lys(p.E954K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7542605:7542605(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1324C>T
AA Mutation p.Arg442Cys(p.R442C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7540198:7540198(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.631A>G
AA Mutation p.Met211Val(p.M211V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7554641:7554641(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2582C>T
AA Mutation p.Thr861Met(p.T861M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7543031:7543031(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1582G>C
AA Mutation p.Val528Leu(p.V528L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7558933:7558933(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776490050
CDS Mutation c.3511G>A
AA Mutation p.Gly1171Arg(p.G1171R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000414982
Start 7542003:7542003(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1215A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000414982
Start 7560704:7560704(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3786C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000414982
Start 7556464:7556464(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779667737
CDS Mutation c.3135G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000414982
Start 7542565:7542565(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs768899819
CDS Mutation c.1284G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000414982
Start 7540976:7540976(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775074101
CDS Mutation c.876G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000414982
Start 7550337:7550337(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1881G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000414982
Start 7553954:7553954(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2370G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence frameshift_variant
Transcription ID ENST00000414982
Start 7558944:7558944(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3522delG
AA Mutation p.Ser1175ProfsTer10(p.S1175Pfs*10)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 22
Mutation Consequence frameshift_variant
Transcription ID ENST00000414982
Start 7542644:7542644(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1368delG
AA Mutation p.Ser457ProfsTer59(p.S457Pfs*59)
Mutation Classification Frame_Shift_Del
Feature Type Transcript

Rectum Cancer: Gene >> PNPLA6

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000414982
Start 7559026:7559026(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3604C>T
AA Mutation p.Arg1202Cys(p.R1202C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000414982
Start 7550385:7550385(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1929C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000414982
Start 7540164:7540164(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.597C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 4
Mutation Consequence frameshift_variant;splice_region_variant
Transcription ID ENST00000414982
Start 7542761:7542762(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1395dupC
AA Mutation p.Thr466HisfsTer6(p.T466Hfs*6)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript