Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> HELZ

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67151154:67151154(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2248G>T
AA Mutation p.Ala750Ser(p.A750S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67109602:67109602(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4003G>T
AA Mutation p.Asp1335Tyr(p.D1335Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67148644:67148644(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2546A>T
AA Mutation p.Tyr849Phe(p.Y849F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67122983:67122983(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3617C>T
AA Mutation p.Ser1206Leu(p.S1206L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67078454:67078454(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758080750
CDS Mutation c.5627C>T
AA Mutation p.Ala1876Val(p.A1876V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67136171:67136171(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2981G>A
AA Mutation p.Ser994Asn(p.S994N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67107281:67107281(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs190375131
CDS Mutation c.5129C>T
AA Mutation p.Pro1710Leu(p.P1710L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67136166:67136166(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2986G>A
AA Mutation p.Val996Ile(p.V996I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67203402:67203402(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.289G>A
AA Mutation p.Ala97Thr(p.A97T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67138062:67138062(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752069712
CDS Mutation c.2822C>T
AA Mutation p.Ala941Val(p.A941V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67195455:67195455(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.445G>A
AA Mutation p.Ala149Thr(p.A149T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67151154:67151154(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771979615
CDS Mutation c.2248G>A
AA Mutation p.Ala750Thr(p.A750T)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67138096:67138096(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2788C>T
AA Mutation p.Arg930Cys(p.R930C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67109644:67109644(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs777241915
CDS Mutation c.3961C>T
AA Mutation p.Arg1321Cys(p.R1321C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67120433:67120433(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3810G>T
AA Mutation p.Glu1270Asp(p.E1270D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67218655:67218655(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.150G>T
AA Mutation p.Leu50Phe(p.L50F)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67137981:67137981(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2903G>A
AA Mutation p.Arg968Gln(p.R968Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67108676:67108676(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4540C>T
AA Mutation p.Arg1514Trp(p.R1514W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 19
Mutation Consequence synonymous_variant
Transcription ID ENST00000358691
Start 67109222:67109222(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4383C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 20
Mutation Consequence synonymous_variant
Transcription ID ENST00000358691
Start 67166558:67166558(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1815T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 21
Mutation Consequence synonymous_variant
Transcription ID ENST00000358691
Start 67178922:67178922(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs185945079
CDS Mutation c.1167C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 22
Mutation Consequence synonymous_variant
Transcription ID ENST00000358691
Start 67188446:67188446(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs775659541
CDS Mutation c.1035C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 23
Mutation Consequence stop_gained
Transcription ID ENST00000358691
Start 67218619:67218619(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.186C>A
AA Mutation p.Tyr62Ter(p.Y62*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 24
Mutation Consequence stop_gained
Transcription ID ENST00000358691
Start 67145796:67145796(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2716C>T
AA Mutation p.Arg906Ter(p.R906*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 25
Mutation Consequence stop_gained
Transcription ID ENST00000358691
Start 67120411:67120411(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3832C>T
AA Mutation p.Arg1278Ter(p.R1278*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 26
Mutation Consequence stop_gained;frameshift_variant
Transcription ID ENST00000358691
Start 67178891:67178892(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.1197_1198insTAAAGAAGGTCAT
AA Mutation p.Val400Ter(p.V400*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 27
Mutation Consequence frameshift_variant
Transcription ID ENST00000358691
Start 67128771:67128772(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.3266_3267insCATTAAC
AA Mutation p.Leu1089PhefsTer20(p.L1089Ffs*20)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> HELZ

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67122983:67122983(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3617C>T
AA Mutation p.Ser1206Leu(p.S1206L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67120569:67120569(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3674G>A
AA Mutation p.Arg1225Gln(p.R1225Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67123052:67123052(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3548G>T
AA Mutation p.Arg1183Ile(p.R1183I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67167705:67167705(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1522T>A
AA Mutation p.Phe508Ile(p.F508I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000358691
Start 67148590:67148590(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2600G>A
AA Mutation p.Arg867His(p.R867H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000358691
Start 67178817:67178817(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1272G>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000358691
Start 67120598:67120598(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3645A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000358691
Start 67218661:67218661(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.144T>C
Mutation Classification Silent
Feature Type Transcript