Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SPECC1

Mutation ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000261503
Start 20245928:20245928(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2354C>A
AA Mutation p.Pro785His(p.P785H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20096718:20096718(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765479679
CDS Mutation c.67C>T
AA Mutation p.Arg23Trp(p.R23W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20205005:20205005(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.956T>C
AA Mutation p.Val319Ala(p.V319A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20204748:20204748(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.699C>A
AA Mutation p.Asn233Lys(p.N233K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20232326:20232326(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2272G>A
AA Mutation p.Glu758Lys(p.E758K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20205629:20205629(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs201795598
CDS Mutation c.1580G>A
AA Mutation p.Arg527Gln(p.R527Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20297045:20297045(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3025A>G
AA Mutation p.Ile1009Val(p.I1009V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20246066:20246066(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs765903879
CDS Mutation c.2492G>A
AA Mutation p.Arg831His(p.R831H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20205437:20205437(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1388T>A
AA Mutation p.Ile463Asn(p.I463N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20205166:20205166(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1117C>A
AA Mutation p.Leu373Ile(p.L373I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20204520:20204520(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.471G>T
AA Mutation p.Glu157Asp(p.E157D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20253530:20253530(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758717249
CDS Mutation c.2624G>A
AA Mutation p.Arg875Gln(p.R875Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20204590:20204590(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.541G>T
AA Mutation p.Asp181Tyr(p.D181Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20204914:20204914(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371274703
CDS Mutation c.865A>G
AA Mutation p.Thr289Ala(p.T289A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20227527:20227527(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1978G>T
AA Mutation p.Asp660Tyr(p.D660Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 16
Mutation Consequence synonymous_variant
Transcription ID ENST00000261503
Start 20205810:20205810(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1761C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 17
Mutation Consequence synonymous_variant
Transcription ID ENST00000261503
Start 20232385:20232385(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2331C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 18
Mutation Consequence synonymous_variant
Transcription ID ENST00000261503
Start 20205753:20205753(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1704C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 19
Mutation Consequence frameshift_variant
Transcription ID ENST00000261503
Start 20204950:20204950(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.908delA
AA Mutation p.Asn303ThrfsTer63(p.N303Tfs*63)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 20
Mutation Consequence frameshift_variant
Transcription ID ENST00000261503
Start 20204950:20204951(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.907_908delAA
AA Mutation p.Asn303HisfsTer14(p.N303Hfs*14)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 21
Mutation Consequence frameshift_variant
Transcription ID ENST00000261503
Start 20204397:20204398(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.355_356dupAG
AA Mutation p.Ser120GlyfsTer29(p.S120Gfs*29)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 22
Mutation Consequence splice_donor_variant
Transcription ID ENST00000261503
Start 20246073:20246073(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2497+2T>C
Mutation Classification Splice_Site
Feature Type Transcript
Mutation ID 23
Mutation Consequence inframe_deletion
Transcription ID ENST00000261503
Start 20205750:20205761(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1703_1714delCCAGTGCTGTGG
AA Mutation p.Ala568_Val571del(p.A568_V571del)
Mutation Classification In_Frame_Del
Feature Type Transcript

Rectum Cancer: Gene >> SPECC1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20260215:20260215(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs759943499
CDS Mutation c.2861C>T
AA Mutation p.Ala954Val(p.A954V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20260211:20260211(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776916403
CDS Mutation c.2857C>G
AA Mutation p.Leu953Val(p.L953V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20204625:20204625(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.576G>T
AA Mutation p.Lys192Asn(p.K192N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20204590:20204590(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.541G>T
AA Mutation p.Asp181Tyr(p.D181Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000261503
Start 20227462:20227462(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1913A>C
AA Mutation p.Glu638Ala(p.E638A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence synonymous_variant
Transcription ID ENST00000261503
Start 20205075:20205075(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1026C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000261503
Start 20205093:20205093(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1047delC
AA Mutation p.Phe350LeufsTer16(p.F350Lfs*16)
Mutation Classification Frame_Shift_Del
Feature Type Transcript