Mutation

Primary Site >> Stomach Cancer

Gene >> PAX3

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000350526
Start	222202117:222202117(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1247C>T
AA Mutation	p.Thr416Ile(p.T416I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000350526
Start	222202133:222202133(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs549206921
CDS Mutation	c.1231G>A
AA Mutation	p.Ala411Thr(p.A411T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000350526
Start	222232278:222232278(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.592G>A
AA Mutation	p.Ala198Thr(p.A198T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000350526
Start	222294230:222294230(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.523A>G
AA Mutation	p.Lys175Glu(p.K175E)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000350526
Start	222294295:222294295(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.458C>A
AA Mutation	p.Ser153Tyr(p.S153Y)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000350526
Start	222232151:222232151(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.719G>T
AA Mutation	p.Arg240Ile(p.R240I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000350526
Start	222297099:222297099(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.200T>C
AA Mutation	p.Ile67Thr(p.I67T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000350526
Start	222221306:222221306(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs142651003
CDS Mutation	c.874G>A
AA Mutation	p.Gly292Arg(p.G292R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	missense_variant
Transcription ID	ENST00000350526
Start	222221366:222221366(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.814G>A
AA Mutation	p.Ala272Thr(p.A272T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	missense_variant
Transcription ID	ENST00000350526
Start	222297088:222297088(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.211G>A
AA Mutation	p.Val71Ile(p.V71I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	11
Mutation Consequence	missense_variant
Transcription ID	ENST00000350526
Start	222221327:222221327(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.853G>A
AA Mutation	p.Ala285Thr(p.A285T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	missense_variant
Transcription ID	ENST00000350526
Start	222221269:222221269(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs372190620
CDS Mutation	c.911C>T
AA Mutation	p.Thr304Met(p.T304M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	13
Mutation Consequence	missense_variant
Transcription ID	ENST00000350526
Start	222295605:222295605(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.374A>C
AA Mutation	p.Asn125Thr(p.N125T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	14
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000350526
Start	222294213:222294213(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.540C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	15
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000350526
Start	222297017:222297017(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.282C>A
Mutation Classification	Silent
Feature Type	Transcript

ID	16
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000350526
Start	222220284:222220284(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs747502205
CDS Mutation	c.1029G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	17
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000350526
Start	222294189:222294189(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.564C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	18
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000350526
Start	222221331:222221331(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.849G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	19
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000350526
Start	222221301:222221301(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.879delG
AA Mutation	p.Phe294SerfsTer87(p.F294Sfs*87)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript