Mutation

Primary Site >> Stomach Cancer

Gene >> SAMHD1

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000262878
Start	36892991:36892991(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1822A>G
AA Mutation	p.Thr608Ala(p.T608A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000262878
Start	36911223:36911223(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1265T>C
AA Mutation	p.Leu422Pro(p.L422P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000262878
Start	36951595:36951595(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.49G>A
AA Mutation	p.Asp17Asn(p.D17N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000262878
Start	36917033:36917033(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs559553527
CDS Mutation	c.869G>A
AA Mutation	p.Arg290His(p.R290H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000262878
Start	36927185:36927185(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.693G>T
AA Mutation	p.Trp231Cys(p.W231C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000262878
Start	36893048:36893048(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1765C>A
AA Mutation	p.Pro589Thr(p.P589T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000262878
Start	36930850:36930850(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.535G>T
AA Mutation	p.Val179Phe(p.V179F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262878
Start	36927197:36927197(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs144587056
CDS Mutation	c.681G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	9
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000262878
Start	36893026:36893026(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1787delA
AA Mutation	p.Lys596ArgfsTer35(p.K596Rfs*35)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000262878
Start	36911239:36911239(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1249G>T
AA Mutation	p.Glu417Ter(p.E417*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	splice_donor_variant
Transcription ID	ENST00000262878
Start	36905362:36905362(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1410+2T>A
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	12
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000262878
Start	36897961:36897961(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1609-2A>T
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	13
Mutation Consequence	stop_lost
Transcription ID	ENST00000262878
Start	36892934:36892934(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1879T>G
AA Mutation	p.Ter627GlyextTer17(p.627Gext17)
Mutation Classification	Nonstop_Mutation
Feature Type	Transcript