Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> EIF2AK3

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000303236
Start 88579557:88579557(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1847A>T
AA Mutation p.Asp616Val(p.D616V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000303236
Start 88588761:88588761(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs761048614
CDS Mutation c.1306C>T
AA Mutation p.His436Tyr(p.H436Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000303236
Start 88585947:88585947(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1544C>A
AA Mutation p.Pro515His(p.P515H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000303236
Start 88576693:88576693(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs748318874
CDS Mutation c.1897C>T
AA Mutation p.Arg633Trp(p.R633W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000303236
Start 88574901:88574901(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2582C>A
AA Mutation p.Thr861Asn(p.T861N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000303236
Start 88586032:88586032(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1459A>T
AA Mutation p.Arg487Trp(p.R487W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000303236
Start 88557794:88557794(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs770232594
CDS Mutation c.3293C>T
AA Mutation p.Ser1098Leu(p.S1098L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000303236
Start 88593338:88593338(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.701A>G
AA Mutation p.Asp234Gly(p.D234G)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000303236
Start 88585932:88585932(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1559A>G
AA Mutation p.His520Arg(p.H520R)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000303236
Start 88557867:88557867(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3220A>C
AA Mutation p.Asn1074His(p.N1074H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000303236
Start 88557809:88557809(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765878566
CDS Mutation c.3278G>A
AA Mutation p.Arg1093His(p.R1093H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000303236
Start 88590977:88590977(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.843C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000303236
Start 88574720:88574720(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2763C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 14
Mutation Consequence synonymous_variant
Transcription ID ENST00000303236
Start 88575233:88575233(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2250C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 15
Mutation Consequence frameshift_variant
Transcription ID ENST00000303236
Start 88613785:88613785(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.377delA
AA Mutation p.Lys126SerfsTer27(p.K126Sfs*27)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 16
Mutation Consequence stop_gained
Transcription ID ENST00000303236
Start 88588851:88588851(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1216A>T
AA Mutation p.Lys406Ter(p.K406*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence frameshift_variant
Transcription ID ENST00000303236
Start 88570965:88570966(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.2893_2894insGTATTTTAATGAAAAC
AA Mutation p.Asp965GlyfsTer7(p.D965Gfs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 18
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000303236
Start 88579641:88579641(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1764-1G>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 19
Mutation Consequence inframe_insertion
Transcription ID ENST00000303236
Start 88593397:88593398(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.641_642insCAGCAACAT
AA Mutation p.Tyr214_Ile215insSerAsnIle(p.Y214_I215insSNI)
Mutation Classification In_Frame_Ins
Feature Type Transcript

Rectum Cancer: Gene >> EIF2AK3

Mutation ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000303236
Start 88613851:88613851(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs757041625
CDS Mutation c.311C>T
AA Mutation p.Ser104Leu(p.S104L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000303236
Start 88579579:88579579(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1825G>A
AA Mutation p.Glu609Lys(p.E609K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000303236
Start 88579641:88579641(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1764-1G>T
Mutation Classification Splice_Site
Feature Type Transcript