Mutation

Primary Site >> Stomach Cancer

Gene >> EPB41L1

ID	1
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000338074
Start	36187763:36187763(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.873G>C
AA Mutation	p.Lys291Asn(p.K291N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000338074
Start	36198006:36198006(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1633C>G
AA Mutation	p.Pro545Ala(p.P545A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000338074
Start	36219837:36219837(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2432T>C
AA Mutation	p.Val811Ala(p.V811A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000338074
Start	36182304:36182304(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.523T>G
AA Mutation	p.Phe175Val(p.F175V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000338074
Start	36197959:36197959(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1586A>T
AA Mutation	p.Asp529Val(p.D529V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000338074
Start	36187687:36187687(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753890218
CDS Mutation	c.797C>T
AA Mutation	p.Pro266Leu(p.P266L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000338074
Start	36209713:36209713(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1894G>A
AA Mutation	p.Ala632Thr(p.A632T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000338074
Start	36173923:36173923(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.146C>A
AA Mutation	p.Pro49Gln(p.P49Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000338074
Start	36209640:36209640(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1821C>A
AA Mutation	p.Ser607Arg(p.S607R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000338074
Start	36188488:36188488(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1015C>T
AA Mutation	p.Arg339Trp(p.R339W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000338074
Start	36185183:36185183(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752354193
CDS Mutation	c.633G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	12
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000338074
Start	36175583:36175583(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.210G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000338074
Start	36209880:36209880(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142392996
CDS Mutation	c.2061G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000338074
Start	36185225:36185225(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.675T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000338074
Start	36178641:36178641(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.459C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000338074
Start	36209808:36209808(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.1993delG
AA Mutation	p.Ala665ProfsTer31(p.A665Pfs*31)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	17
Mutation Consequence	stop_gained
Transcription ID	ENST00000338074
Start	36190695:36190695(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1198C>T
AA Mutation	p.Gln400Ter(p.Q400*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript