Mutation

Primary Site >> Pancreatic Cancer

Gene >> ATM

ID	1
Mutation Consequence	missense_variant
Transcription ID	ENST00000278616
Start	108365426:108365426(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.9089G>T
AA Mutation	p.Gly3030Val(p.G3030V)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	2
Mutation Consequence	missense_variant
Transcription ID	ENST00000278616
Start	108329199:108329199(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs121434221
CDS Mutation	c.7268A>G
AA Mutation	p.Glu2423Gly(p.E2423G)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	3
Mutation Consequence	missense_variant
Transcription ID	ENST00000278616
Start	108327727:108327727(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.7058C>A
AA Mutation	p.Pro2353His(p.P2353H)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	4
Mutation Consequence	missense_variant
Transcription ID	ENST00000278616
Start	108330281:108330281(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs730881383
CDS Mutation	c.7375C>T
AA Mutation	p.Arg2459Cys(p.R2459C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	5
Mutation Consequence	missense_variant
Transcription ID	ENST00000278616
Start	108343292:108343292(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.8339T>G
AA Mutation	p.Leu2780Arg(p.L2780R)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	6
Mutation Consequence	missense_variant
Transcription ID	ENST00000278616
Start	108354825:108354825(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.8801C>T
AA Mutation	p.Thr2934Ile(p.T2934I)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	7
Mutation Consequence	missense_variant
Transcription ID	ENST00000278616
Start	108307915:108307915(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs370680798
CDS Mutation	c.5693G>A
AA Mutation	p.Arg1898Gln(p.R1898Q)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	8
Mutation Consequence	missense_variant
Transcription ID	ENST00000278616
Start	108247071:108247071(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	rs138398778
CDS Mutation	c.1009C>T
AA Mutation	p.Arg337Cys(p.R337C)
Mutation Classification	Missense_Mutation
Feature Type	Transcript

ID	9
Mutation Consequence	stop_gained
Transcription ID	ENST00000278616
Start	108287646:108287646(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	null
CDS Mutation	c.4040T>G
AA Mutation	p.Leu1347Ter(p.L1347*)
Mutation Classification	Nonsense_Mutation
Feature Type	Transcript

ID	10
Mutation Consequence	splice_acceptor_variant
Transcription ID	ENST00000278616
Start	108253812:108253812(version: GRCh38)
Mutation Type	SNP
dbSNP_RS	novel
CDS Mutation	c.1899-2A>C
Mutation Classification	Splice_Site
Feature Type	Transcript

ID	11
Mutation Consequence	splice_acceptor_variant;coding_sequence_variant;intron_variant
Transcription ID	ENST00000278616
Start	108271057:108271064(version: GRCh38)
Mutation Type	DEL
dbSNP_RS	novel
CDS Mutation	c.2839-3_2843delTAGTATCT
Mutation Classification	Splice_Site
Feature Type	Transcript