Mutation

Primary Site >> Liver Cancer

Gene >> SPTBN1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000356805
Start	54646003:54646003(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4570A>G
AA Mutation	p.Ile1524Val(p.I1524V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000356805
Start	54647198:54647198(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4934C>A
AA Mutation	p.Ala1645Glu(p.A1645E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000356805
Start	54631376:54631376(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3329A>T
AA Mutation	p.Glu1110Val(p.E1110V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000356805
Start	54643047:54643047(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3923A>G
AA Mutation	p.Asn1308Ser(p.N1308S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000356805
Start	54649760:54649760(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5348T>G
AA Mutation	p.Leu1783Arg(p.L1783R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000356805
Start	54526512:54526512(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.94A>T
AA Mutation	p.Asn32Tyr(p.N32Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000356805
Start	54626055:54626055(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1465G>A
AA Mutation	p.Glu489Lys(p.E489K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000356805
Start	54664520:54664520(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6488A>T
AA Mutation	p.Glu2163Val(p.E2163V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000356805
Start	54628234:54628234(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1782C>G
AA Mutation	p.Phe594Leu(p.F594L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000356805
Start	54631364:54631364(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs772780138
CDS Mutation	c.3317A>G
AA Mutation	p.Asn1106Ser(p.N1106S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000356805
Start	54632660:54632660(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3659C>T
AA Mutation	p.Ala1220Val(p.A1220V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000356805
Start	54632682:54632682(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3681T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000356805
Start	54655079:54655079(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5832A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000356805
Start	54630000:54630000(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2778C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	stop_gained
Transcription ID	ENST00000356805
Start	54631030:54631030(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2983C>T
AA Mutation	p.Gln995Ter(p.Q995*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript