Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> ESPL1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53289573:53289573(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5092C>T
AA Mutation p.Arg1698Cys(p.R1698C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53292004:53292004(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5712G>T
AA Mutation p.Trp1904Cys(p.W1904C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53282303:53282303(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2659G>A
AA Mutation p.Asp887Asn(p.D887N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53289421:53289421(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749239351
CDS Mutation c.4940G>A
AA Mutation p.Arg1647Gln(p.R1647Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53269624:53269624(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375659071
CDS Mutation c.682G>A
AA Mutation p.Val228Met(p.V228M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53274980:53274980(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1670C>T
AA Mutation p.Ala557Val(p.A557V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53283511:53283511(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3050T>G
AA Mutation p.Leu1017Arg(p.L1017R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53281598:53281598(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752710244
CDS Mutation c.2591G>A
AA Mutation p.Arg864Gln(p.R864Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53286319:53286319(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs200640004
CDS Mutation c.3583G>A
AA Mutation p.Ala1195Thr(p.A1195T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53269298:53269298(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.356G>A
AA Mutation p.Arg119His(p.R119H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53272771:53272771(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1420G>A
AA Mutation p.Ala474Thr(p.A474T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53269471:53269471(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.529C>T
AA Mutation p.Leu177Phe(p.L177F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53290916:53290916(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5440G>T
AA Mutation p.Gly1814Cys(p.G1814C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53290983:53290983(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5507G>A
AA Mutation p.Arg1836His(p.R1836H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53276705:53276705(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs747148602
CDS Mutation c.1786C>T
AA Mutation p.Arg596Trp(p.R596W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53276726:53276726(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1807C>T
AA Mutation p.Arg603Cys(p.R603C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53274979:53274979(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1669G>A
AA Mutation p.Ala557Thr(p.A557T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53283421:53283421(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2960T>C
AA Mutation p.Val987Ala(p.V987A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53291812:53291812(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5643G>T
AA Mutation p.Gln1881His(p.Q1881H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53288667:53288667(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs766352133
CDS Mutation c.4676G>A
AA Mutation p.Arg1559Gln(p.R1559Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53272842:53272842(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1491G>T
AA Mutation p.Glu497Asp(p.E497D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53284126:53284126(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs575347377
CDS Mutation c.3146C>T
AA Mutation p.Ser1049Leu(p.S1049L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 23
Mutation Consequence synonymous_variant
Transcription ID ENST00000257934
Start 53283235:53283235(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2898G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 24
Mutation Consequence synonymous_variant
Transcription ID ENST00000257934
Start 53288001:53288001(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4206A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 25
Mutation Consequence synonymous_variant
Transcription ID ENST00000257934
Start 53293378:53293378(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.6267T>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 26
Mutation Consequence synonymous_variant
Transcription ID ENST00000257934
Start 53276653:53276653(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144474323
CDS Mutation c.1734G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 27
Mutation Consequence synonymous_variant
Transcription ID ENST00000257934
Start 53289214:53289214(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs779415897
CDS Mutation c.4833G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 28
Mutation Consequence synonymous_variant
Transcription ID ENST00000257934
Start 53269629:53269629(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.687C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 29
Mutation Consequence synonymous_variant
Transcription ID ENST00000257934
Start 53270734:53270734(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1305C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 30
Mutation Consequence synonymous_variant
Transcription ID ENST00000257934
Start 53269842:53269842(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.900G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 31
Mutation Consequence synonymous_variant
Transcription ID ENST00000257934
Start 53286318:53286318(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs61740151
CDS Mutation c.3582C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 32
Mutation Consequence frameshift_variant
Transcription ID ENST00000257934
Start 53286668:53286669(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.3932_3933delAG
AA Mutation p.Gln1311ArgfsTer21(p.Q1311Rfs*21)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 33
Mutation Consequence stop_gained
Transcription ID ENST00000257934
Start 53269987:53269987(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1045C>T
AA Mutation p.Arg349Ter(p.R349*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript

Rectum Cancer: Gene >> ESPL1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000257934
Start 53290132:53290132(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149892921
CDS Mutation c.5161G>A
AA Mutation p.Val1721Met(p.V1721M)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence synonymous_variant
Transcription ID ENST00000257934
Start 53276653:53276653(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs144474323
CDS Mutation c.1734G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000257934
Start 53270758:53270758(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1329C>G
Mutation Classification Silent
Feature Type Transcript