Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SMARCC1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000254480
Start	47714426:47714426(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.781A>C
AA Mutation	p.Lys261Gln(p.K261Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000254480
Start	47610123:47610123(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2986C>T
AA Mutation	p.Pro996Ser(p.P996S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000254480
Start	47686070:47686070(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1364C>T
AA Mutation	p.Ala455Val(p.A455V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000254480
Start	47610249:47610249(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2860G>A
AA Mutation	p.Ala954Thr(p.A954T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000254480
Start	47590750:47590750(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3131C>T
AA Mutation	p.Ser1044Phe(p.S1044F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000254480
Start	47706519:47706519(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.930T>C
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	7
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000254480
Start	47636068:47636069(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.2444dupA
AA Mutation	p.Asn815LysfsTer2(p.N815Kfs*2)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

Rectum Cancer: Gene >> SMARCC1

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000254480
Start	47678274:47678274(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1495C>T
AA Mutation	p.Arg499Cys(p.R499C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000254480
Start	47706490:47706490(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.959C>T
AA Mutation	p.Ala320Val(p.A320V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000254480
Start	47738081:47738081(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs781064681
CDS Mutation	c.431G>A
AA Mutation	p.Arg144Gln(p.R144Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript