Mutation

Primary Site >> Liver Cancer

Gene >> COL6A3

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000295550
Start	237365915:237365915(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5621G>C
AA Mutation	p.Arg1874Thr(p.R1874T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000295550
Start	237379202:237379202(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1931T>C
AA Mutation	p.Leu644Ser(p.L644S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000295550
Start	237347808:237347808(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7028G>C
AA Mutation	p.Arg2343Thr(p.R2343T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000295550
Start	237366840:237366840(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.5347T>A
AA Mutation	p.Ser1783Thr(p.S1783T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000295550
Start	237367283:237367283(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.4904A>G
AA Mutation	p.Lys1635Arg(p.K1635R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000295550
Start	237363289:237363289(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.6027C>A
AA Mutation	p.Asn2009Lys(p.N2009K)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000295550
Start	237354921:237354921(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs768050320
CDS Mutation	c.6605G>A
AA Mutation	p.Arg2202Gln(p.R2202Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000295550
Start	237345204:237345204(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7102G>T
AA Mutation	p.Gly2368Cys(p.G2368C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000295550
Start	237345078:237345078(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7142A>G
AA Mutation	p.Gln2381Arg(p.Q2381R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000295550
Start	237372062:237372062(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.3955G>T
AA Mutation	p.Val1319Leu(p.V1319L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000295550
Start	237387921:237387921(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.973G>A
AA Mutation	p.Ala325Thr(p.A325T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000295550
Start	237340848:237340848(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8068A>G
AA Mutation	p.Thr2690Ala(p.T2690A)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000295550
Start	237336406:237336406(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs537384335
CDS Mutation	c.8694T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000295550
Start	237340474:237340474(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8442G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000295550
Start	237394998:237394998(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.298delC
AA Mutation	p.Gln100LysfsTer23(p.Q100Kfs*23)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	16
Mutation Consequence	stop_gained
Transcription ID	ENST00000295550
Start	237346529:237346529(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.7066G>T
AA Mutation	p.Gly2356Ter(p.G2356*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript