Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> MEFV

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3243377:3243377(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs104895096
CDS Mutation c.2110G>A
AA Mutation p.Val704Ile(p.V704I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3254781:3254781(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.287C>T
AA Mutation p.Thr96Ile(p.T96I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3247099:3247099(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs140462252
CDS Mutation c.1504G>A
AA Mutation p.Val502Ile(p.V502I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3254656:3254656(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.412G>A
AA Mutation p.Gly138Arg(p.G138R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3249750:3249750(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs104895204
CDS Mutation c.941G>A
AA Mutation p.Arg314His(p.R314H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3243439:3243439(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs534682649
CDS Mutation c.2048C>T
AA Mutation p.Ser683Leu(p.S683L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3254250:3254250(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs483353019
CDS Mutation c.818C>T
AA Mutation p.Ser273Leu(p.S273L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3247222:3247222(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1381C>T
AA Mutation p.Arg461Trp(p.R461W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3243550:3243550(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs104895107
CDS Mutation c.1937C>T
AA Mutation p.Pro646Leu(p.P646L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3249630:3249630(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763015849
CDS Mutation c.1061G>A
AA Mutation p.Arg354Gln(p.R354Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3243880:3243880(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1772T>G
AA Mutation p.Ile591Ser(p.I591S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3249514:3249514(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1177C>T
AA Mutation p.Pro393Ser(p.P393S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3254671:3254671(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.397C>T
AA Mutation p.Arg133Trp(p.R133W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3249718:3249718(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.973G>T
AA Mutation p.Gly325Cys(p.G325C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence synonymous_variant
Transcription ID ENST00000219596
Start 3254201:3254201(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.867G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000219596
Start 3243270:3243270(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2217C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000219596
Start 3247232:3247232(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761470030
CDS Mutation c.1371G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000219596
Start 3243534:3243534(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1953C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000219596
Start 3243573:3243573(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1914C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000219596
Start 3254750:3254750(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777765016
CDS Mutation c.318G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000219596
Start 3249659:3249659(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1032C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000219596
Start 3247199:3247199(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1404G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000219596
Start 3254261:3254261(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.807G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence frameshift_variant
Transcription ID ENST00000219596
Start 3249631:3249631(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1060delC
AA Mutation p.Arg354GlyfsTer14(p.R354Gfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 25
Mutation Consequence stop_gained
Transcription ID ENST00000219596
Start 3243492:3243492(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1995G>A
AA Mutation p.Trp665Ter(p.W665*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence inframe_insertion
Transcription ID ENST00000219596
Start 3254410:3254411(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.657_658insTGCACTCCTTCT
AA Mutation p.Gly219_Ala220insCysThrProSer(p.G219_A220insCTPS)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> MEFV

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3243439:3243439(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs534682649
CDS Mutation c.2048C>T
AA Mutation p.Ser683Leu(p.S683L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3247123:3247123(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1480A>G
AA Mutation p.Ile494Val(p.I494V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3243377:3243377(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs104895096
CDS Mutation c.2110G>A
AA Mutation p.Val704Ile(p.V704I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000219596
Start 3243889:3243889(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775374556
CDS Mutation c.1763C>T
AA Mutation p.Pro588Leu(p.P588L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence synonymous_variant
Transcription ID ENST00000219596
Start 3247076:3247076(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs571832030
CDS Mutation c.1527C>T
Mutation Classification Silent
Feature Type Transcript