Mutation

Primary Site >> Esophagus Cancer

Gene >> PRKDC

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47863537:47863537(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.5612T>C
AA Mutation	p.Met1871Thr(p.M1871T)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47782409:47782409(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11365A>G
AA Mutation	p.Arg3789Gly(p.R3789G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47826769:47826769(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8670C>G
AA Mutation	p.Ile2890Met(p.I2890M)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47820876:47820876(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9179C>T
AA Mutation	p.Ser3060Phe(p.S3060F)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000314191
Start	47821710:47821710(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.9005A>G
AA Mutation	p.Tyr3002Cys(p.Y3002C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47954438:47954438(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.408G>A
Mutation Classification	Silent
Feature Type	Transcript

ID	7
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47831835:47831835(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8244T>C
Mutation Classification	Silent
Feature Type	Transcript

ID	8
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47778600:47778600(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs765475039
CDS Mutation	c.11712C>T
Mutation Classification	Silent
Feature Type	Transcript

ID	9
Mutation Consequence	synonymous_variant
Transcription ID	ENST00000314191
Start	47915332:47915332(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.2613G>C
Mutation Classification	Silent
Feature Type	Transcript

ID	10
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47893306:47893306(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	null
CDS Mutation	c.3680delG
AA Mutation	p.Gly1227ValfsTer50(p.G1227Vfs*50)
Mutation Classification	Frame_Shift_Del
Feature Type	Transcript

ID	11
Mutation Consequence	stop_gained
Transcription ID	ENST00000314191
Start	47953655:47953655(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.686C>G
AA Mutation	p.Ser229Ter(p.S229*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	12
Mutation Consequence	frameshift_variant
Transcription ID	ENST00000314191
Start	47839171:47839172(version: GRCh38)
Mutation Type	INS
dbSNP_RS	novel
CDS Mutation	c.7529dupT
AA Mutation	p.Leu2510PhefsTer4(p.L2510Ffs*4)
Mutation Classification	Frame_Shift_Ins
Feature Type	Transcript

ID	13
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000314191
Start	47782256:47782256(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.11397-2A>C
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	14
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000314191
Start	47821793:47821793(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8923-1G>T
Mutation Classification	Splice_Site
Feature Type	Transcript