Mutation

Primary Site >> Stomach Cancer

Gene >> TBX5

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000310346
Start	114403811:114403811(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.88A>G
AA Mutation	p.Ser30Gly(p.S30G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000310346
Start	114385500:114385500(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.731T>C
AA Mutation	p.Leu244Pro(p.L244P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000310346
Start	114366287:114366287(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.860T>C
AA Mutation	p.Leu287Ser(p.L287S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000310346
Start	114403867:114403867(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.32C>T
AA Mutation	p.Ala11Val(p.A11V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant;splice_region_variant
Transcription ID	ENST00000310346
Start	114399630:114399630(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.245G>A
AA Mutation	p.Arg82Gln(p.R82Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000310346
Start	114403844:114403844(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.55G>A
AA Mutation	p.Ala19Thr(p.A19T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000310346
Start	114399628:114399628(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.247A>T
AA Mutation	p.Met83Leu(p.M83L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000310346
Start	114403780:114403780(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.119C>T
AA Mutation	p.Ser40Leu(p.S40L)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000310346
Start	114355789:114355789(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1300C>T
AA Mutation	p.Pro434Ser(p.P434S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000310346
Start	114355996:114355996(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1093G>A
AA Mutation	p.Gly365Ser(p.G365S)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000310346
Start	114394813:114394813(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.591A>C
AA Mutation	p.Lys197Asn(p.K197N)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000310346
Start	114355966:114355966(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs377532269
CDS Mutation	c.1123C>T
AA Mutation	p.Arg375Trp(p.R375W)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000310346
Start	114403799:114403799(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.100G>C
AA Mutation	p.Ala34Pro(p.A34P)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	missense_variant
Transcription ID	ENST00000310346
Start	114355855:114355855(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs114124210
CDS Mutation	c.1234G>A
AA Mutation	p.Val412Ile(p.V412I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000310346
Start	114355616:114355616(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1473T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000310346
Start	114355712:114355712(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1377C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000310346
Start	114385486:114385486(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.745A>C
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000310346
Start	114355649:114355649(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1440C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000310346
Start	114403860:114403860(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.39G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	20
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000310346
Start	114355658:114355658(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.1431G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	21
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000310346
Start	114394811:114394811(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.593delA
AA Mutation	p.Asn198IlefsTer15(p.N198Ifs*15)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	22
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000310346
Start	114403799:114403799(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.100delG
AA Mutation	p.Ala34ProfsTer32(p.A34Pfs*32)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript