Mutation

Primary Site >> Liver Cancer

Gene >> KIT

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54731931:54731931(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2294A>G
AA Mutation	p.Asp765Gly(p.D765G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54698536:54698536(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.590C>T
AA Mutation	p.Ser197Leu(p.S197L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54731897:54731897(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2260C>T
AA Mutation	p.Pro754Ser(p.P754S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54729430:54729430(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2086G>T
AA Mutation	p.Asp696Tyr(p.D696Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54727486:54727486(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1718C>A
AA Mutation	p.Pro573Gln(p.P573Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54736553:54736553(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs752695117
CDS Mutation	c.2540C>T
AA Mutation	p.Thr847Met(p.T847M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000288135
Start	54698367:54698367(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.421C>T
AA Mutation	p.Pro141Ser(p.P141S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000288135
Start	54707189:54707189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1017A>T
Mutation Classification	Silent
Feature Type	Transcript

ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000288135
Start	54703813:54703813(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.846T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	10
Mutation Consequence	stop_gained
Transcription ID	ENST00000288135
Start	54733135:54733135(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2427T>A
AA Mutation	p.Cys809Ter(p.C809*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	stop_gained
Transcription ID	ENST00000288135
Start	54698536:54698536(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.590C>A
AA Mutation	p.Ser197Ter(p.S197*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000288135
Start	54738428:54738428(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2803-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript