Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> PSMD1

Mutation ID 1
Mutation Consequence missense_variant;splice_region_variant
Transcription ID ENST00000308696
Start 231067110:231067110(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.509C>T
AA Mutation p.Ser170Leu(p.S170L)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231146265:231146265(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs772055670
CDS Mutation c.2024T>A
AA Mutation p.Met675Lys(p.M675K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231082955:231082955(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1486T>G
AA Mutation p.Leu496Val(p.L496V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231070157:231070157(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.643A>G
AA Mutation p.Asn215Asp(p.N215D)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231163660:231163660(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2414A>G
AA Mutation p.Asn805Ser(p.N805S)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231078663:231078663(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1076C>T
AA Mutation p.Ala359Val(p.A359V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231062534:231062534(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.163C>T
AA Mutation p.Arg55Trp(p.R55W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231085046:231085046(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1750T>C
AA Mutation p.Tyr584His(p.Y584H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231153639:231153639(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs189389369
CDS Mutation c.2191A>G
AA Mutation p.Ile731Val(p.I731V)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231062311:231062311(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs776542337
CDS Mutation c.124G>A
AA Mutation p.Val42Ile(p.V42I)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000308696
Start 231161407:231161407(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2286C>T
Mutation Classification Silent
Feature Type Transcript
Mutation ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000308696
Start 231062653:231062653(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.282T>C
Mutation Classification Silent
Feature Type Transcript
Mutation ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000308696
Start 231066966:231066966(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.372delA
AA Mutation p.Lys124AsnfsTer11(p.K124Nfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 14
Mutation Consequence frameshift_variant
Transcription ID ENST00000308696
Start 231077150:231077150(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1064delA
AA Mutation p.Asn355ThrfsTer17(p.N355Tfs*17)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 15
Mutation Consequence frameshift_variant
Transcription ID ENST00000308696
Start 231165258:231165258(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.2546delA
AA Mutation p.Lys849ArgfsTer44(p.K849Rfs*44)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
Mutation ID 16
Mutation Consequence stop_gained
Transcription ID ENST00000308696
Start 231085094:231085094(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1798C>T
AA Mutation p.Arg600Ter(p.R600*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
Mutation ID 17
Mutation Consequence frameshift_variant
Transcription ID ENST00000308696
Start 231066965:231066966(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.372dupA
AA Mutation p.Pro125ThrfsTer3(p.P125Tfs*3)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
Mutation ID 18
Mutation Consequence frameshift_variant
Transcription ID ENST00000308696
Start 231085100:231085101(version: GRCh38)
Mutation Type INS
dbSNP_RS null
CDS Mutation c.1805dupT
AA Mutation p.Leu603AlafsTer7(p.L603Afs*7)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript

Rectum Cancer: Gene >> PSMD1

Mutation ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231062519:231062519(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs534841979
CDS Mutation c.148G>A
AA Mutation p.Glu50Lys(p.E50K)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231070094:231070094(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.580C>T
AA Mutation p.Arg194Trp(p.R194W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231080164:231080164(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1263G>T
AA Mutation p.Gln421His(p.Q421H)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231078668:231078668(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1081C>T
AA Mutation p.Arg361Trp(p.R361W)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231077136:231077136(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1045G>A
AA Mutation p.Asp349Asn(p.D349N)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000308696
Start 231170709:231170709(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2859T>G
AA Mutation p.Asp953Glu(p.D953E)
Mutation Classification Missense_Mutation
Feature Type Transcript
Mutation ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000308696
Start 231082909:231082909(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1440C>A
Mutation Classification Silent
Feature Type Transcript
Mutation ID 8
Mutation Consequence stop_gained
Transcription ID ENST00000308696
Start 231161460:231161460(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2339C>A
AA Mutation p.Ser780Ter(p.S780*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript