Mutation

Primary Site >> Liver Cancer

Gene >> FBN2

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128369319:128369319(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2111G>T
AA Mutation	p.Ser704Ile(p.S704I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128345494:128345494(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3080G>T
AA Mutation	p.Cys1027Phe(p.C1027F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128344420:128344420(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3308G>T
AA Mutation	p.Gly1103Val(p.G1103V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128338978:128338978(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3427T>C
AA Mutation	p.Phe1143Leu(p.F1143L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128290841:128290841(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6336G>T
AA Mutation	p.Lys2112Asn(p.K2112N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128392068:128392068(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1553G>C
AA Mutation	p.Arg518Pro(p.R518P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128349392:128349392(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2944T>C
AA Mutation	p.Cys982Arg(p.C982R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128330644:128330644(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4274G>T
AA Mutation	p.Cys1425Phe(p.C1425F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128286760:128286760(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.6970C>T
AA Mutation	p.Pro2324Ser(p.P2324S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128278653:128278653(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7327T>G
AA Mutation	p.Tyr2443Asp(p.Y2443D)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128344400:128344400(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.3328G>A
AA Mutation	p.Glu1110Lys(p.E1110K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128378801:128378801(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1693C>A
AA Mutation	p.Gln565Lys(p.Q565K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128334737:128334737(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4081G>A
AA Mutation	p.Gly1361Arg(p.G1361R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128369199:128369199(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2231G>A
AA Mutation	p.Cys744Tyr(p.C744Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128274652:128274652(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7626C>A
AA Mutation	p.Asn2542Lys(p.N2542K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	16
Mutation Consequence	missense_variant
Transcription ID	ENST00000262464
Start	128408694:128408694(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1058C>T
AA Mutation	p.Thr353Ile(p.T353I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262464
Start	128344449:128344449(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3279C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262464
Start	128259665:128259665(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs140437100
CDS Mutation	c.8529C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262464
Start	128273904:128273904(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7776A>C
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262464
Start	128318210:128318210(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4656T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	21
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262464
Start	128369264:128369264(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2166A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	22
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262464
Start	128310005:128310005(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5178C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	23
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262464
Start	128408750:128408750(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1002T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	24
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000262464
Start	128332931:128332931(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4203A>G
Mutation Classification	Silent
Feature Type	Transcript

ID	25
Mutation Consequence	stop_gained
Transcription ID	ENST00000262464
Start	128310001:128310001(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5182G>T
AA Mutation	p.Gly1728Ter(p.G1728*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	26
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000262464
Start	128351007:128351007(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.2675-2A>G
Mutation Classification	Splice_Site
Feature Type	Transcript