Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> NF2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000338641
Start 29671940:29671940(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1114G>A
AA Mutation p.Glu372Lys(p.E372K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000338641
Start 29674886:29674886(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776109136
CDS Mutation c.1391C>T
AA Mutation p.Ala464Val(p.A464V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000338641
Start 29671901:29671901(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1075A>T
AA Mutation p.Arg359Trp(p.R359W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000338641
Start 29639124:29639124(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.275T>C
AA Mutation p.Val92Ala(p.V92A)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000338641
Start 29642207:29642207(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.369G>T
AA Mutation p.Lys123Asn(p.K123N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000338641
Start 29664992:29664992(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.813T>G
AA Mutation p.Phe271Leu(p.F271L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000338641
Start 29673445:29673445(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs749028891
CDS Mutation c.1299C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000338641
Start 29681562:29681562(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751987156
CDS Mutation c.1698C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000338641
Start 29636849:29636849(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.213A>G
Mutation Classification Silent
Feature Type Transcript
Mutation ID 10
Mutation Consequence frameshift_variant
Transcription ID ENST00000338641
Start 29654719:29654719(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.514delA
AA Mutation p.Arg172GlyfsTer2(p.R172Gfs*2)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 11
Mutation Consequence stop_gained
Transcription ID ENST00000338641
Start 29671847:29671847(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs74315499
CDS Mutation c.1021C>T
AA Mutation p.Arg341Ter(p.R341*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 12
Mutation Consequence stop_gained
Transcription ID ENST00000338641
Start 29694776:29694776(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1762C>T
AA Mutation p.Arg588Ter(p.R588*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 13
Mutation Consequence splice_donor_variant
Transcription ID ENST00000338641
Start 29655677:29655677(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.599+1G>C
Mutation Classification Splice_Site
Feature Type Transcript

Rectum Cancer: Gene >> NF2

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000338641
Start 29639137:29639137(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.288C>A
AA Mutation p.Phe96Leu(p.F96L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000338641
Start 29673416:29673416(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763826793
CDS Mutation c.1270C>T
AA Mutation p.Arg424Cys(p.R424C)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000338641
Start 29636811:29636811(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.175A>G
AA Mutation p.Thr59Ala(p.T59A)
Mutation Classification Missense_Mutation
Feature Type Transcript