Mutation

Primary Site >> Liver Cancer

Gene >> SPEG

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219476954:219476954(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4532A>T
AA Mutation	p.Lys1511Ile(p.K1511I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219480106:219480106(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5308A>C
AA Mutation	p.Asn1770His(p.N1770H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219488266:219488266(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7814G>A
AA Mutation	p.Cys2605Tyr(p.C2605Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219488829:219488829(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs200879669
CDS Mutation	c.8078C>T
AA Mutation	p.Thr2693Met(p.T2693M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219448360:219448360(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1202T>A
AA Mutation	p.Leu401Gln(p.L401Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219477743:219477743(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4784G>T
AA Mutation	p.Arg1595Met(p.R1595M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219483470:219483470(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6007G>T
AA Mutation	p.Ala2003Ser(p.A2003S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219469238:219469238(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs767242646
CDS Mutation	c.3574C>T
AA Mutation	p.Arg1192Trp(p.R1192W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219480130:219480130(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5332A>T
AA Mutation	p.Thr1778Ser(p.T1778S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219461890:219461890(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2449A>G
AA Mutation	p.Thr817Ala(p.T817A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219483864:219483864(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6401G>T
AA Mutation	p.Gly2134Val(p.G2134V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219489750:219489750(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8732C>A
AA Mutation	p.Pro2911Gln(p.P2911Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219448888:219448888(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1730C>T
AA Mutation	p.Ala577Val(p.A577V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000312358
Start	219469015:219469015(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3458T>A
AA Mutation	p.Val1153Glu(p.V1153E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312358
Start	219468956:219468956(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3399C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312358
Start	219472270:219472270(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3879T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312358
Start	219462048:219462048(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2607C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312358
Start	219483367:219483367(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5904C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000312358
Start	219489592:219489592(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8574G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	stop_gained
Transcription ID	ENST00000312358
Start	219484097:219484097(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6634C>T
AA Mutation	p.Gln2212Ter(p.Q2212*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	21
Mutation Consequence	stop_gained
Transcription ID	ENST00000312358
Start	219488282:219488282(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7830C>A
AA Mutation	p.Cys2610Ter(p.C2610*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	22
Mutation Consequence	stop_gained
Transcription ID	ENST00000312358
Start	219477427:219477427(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4711G>T
AA Mutation	p.Glu1571Ter(p.E1571*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	23
Mutation Consequence	inframe_deletion
Transcription ID	ENST00000312358
Start	219461907:219461909(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2467_2469delCCC
AA Mutation	p.Pro823del(p.P823del)
Mutation Classification	In_Frame_Del
Feature Type	Transcript