Mutation

Primary Site >> Liver Cancer

Gene >> AHNAK

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000378024
Start	62523171:62523171(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11246A>T
AA Mutation	p.Asp3749Val(p.D3749V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000378024
Start	62536005:62536005(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs777477987
CDS Mutation	c.94G>A
AA Mutation	p.Val32Ile(p.V32I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000378024
Start	62526370:62526370(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8047A>G
AA Mutation	p.Ile2683Val(p.I2683V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000378024
Start	62523147:62523147(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs551324364
CDS Mutation	c.11270C>T
AA Mutation	p.Pro3757Leu(p.P3757L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000378024
Start	62523009:62523009(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11408A>G
AA Mutation	p.Lys3803Arg(p.K3803R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000378024
Start	62531314:62531314(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3103G>T
AA Mutation	p.Asp1035Tyr(p.D1035Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000378024
Start	62518033:62518033(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.16384A>G
AA Mutation	p.Lys5462Glu(p.K5462E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000378024
Start	62520856:62520856(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs753174864
CDS Mutation	c.13561A>G
AA Mutation	p.Met4521Val(p.M4521V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000378024
Start	62522262:62522262(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs748413979
CDS Mutation	c.12155A>G
AA Mutation	p.His4052Arg(p.H4052R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000378024
Start	62525339:62525339(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9078A>T
AA Mutation	p.Lys3026Asn(p.K3026N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000378024
Start	62519301:62519301(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.15116A>T
AA Mutation	p.Lys5039Ile(p.K5039I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000378024
Start	62523849:62523849(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10568A>T
AA Mutation	p.Glu3523Val(p.E3523V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000378024
Start	62526313:62526313(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8104A>G
AA Mutation	p.Ile2702Val(p.I2702V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378024
Start	62520650:62520650(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.13767G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378024
Start	62524319:62524319(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.10098A>T
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378024
Start	62524586:62524586(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9831A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378024
Start	62522939:62522939(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.11478G>T
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000378024
Start	62522333:62522333(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.12084T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000378024
Start	62521303:62521310(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.13107_13114delGGGTCCAA
AA Mutation	p.Gly4370ValfsTer17(p.G4370Vfs*17)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	20
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000378024
Start	62518637:62518637(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.15780delC
AA Mutation	p.Ser5261LeufsTer6(p.S5261Lfs*6)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript