Mutation

Primary Site >> Colorectal Cancer

Colon Cancer: Gene >> SOX30

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000265007
Start	157638576:157638576(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs571563119
CDS Mutation	c.1534C>T
AA Mutation	p.Arg512Cys(p.R512C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000265007
Start	157646753:157646753(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1271T>C
AA Mutation	p.Phe424Ser(p.F424S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000265007
Start	157651565:157651565(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.514G>A
AA Mutation	p.Gly172Arg(p.G172R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000265007
Start	157651396:157651396(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.683C>T
AA Mutation	p.Ala228Val(p.A228V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	5
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265007
Start	157646773:157646773(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1251T>G
Mutation Classification	Silent
Feature Type	Transcript

Mutation ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000265007
Start	157638520:157638520(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1590C>T
Mutation Classification	Silent
Feature Type	Transcript

Rectum Cancer: Gene >> SOX30

Mutation ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000265007
Start	157648809:157648809(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs574355786
CDS Mutation	c.1055G>A
AA Mutation	p.Arg352Gln(p.R352Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000265007
Start	157638383:157638383(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1727G>A
AA Mutation	p.Arg576Lys(p.R576K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000265007
Start	157648715:157648715(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1149G>T
AA Mutation	p.Lys383Asn(p.K383N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

Mutation ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000265007
Start	157638352:157638352(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1758T>G
AA Mutation	p.Ile586Met(p.I586M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript