Primary Site >> Stomach Cancer

Gene >> PAX6

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000241001
Start 31800720:31800720(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.494G>T
AA Mutation p.Gly165Val(p.G165V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000241001
Start 31800738:31800738(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.476G>A
AA Mutation p.Arg159His(p.R159H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000241001
Start 31794759:31794759(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.553G>C
AA Mutation p.Glu185Gln(p.E185Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000241001
Start 31800787:31800787(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.427T>C
AA Mutation p.Tyr143His(p.Y143H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000241001
Start 31802723:31802723(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.122A>T
AA Mutation p.Asp41Val(p.D41V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000241001
Start 31800754:31800754(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758400541
CDS Mutation c.460G>A
AA Mutation p.Gly154Arg(p.G154R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000241001
Start 31802750:31802750(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.95T>C
AA Mutation p.Leu32Pro(p.L32P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000241001
Start 31802717:31802717(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.128C>T
AA Mutation p.Ser43Phe(p.S43F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000241001
Start 31801693:31801693(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.225A>G
Mutation Classification Silent
Feature Type Transcript
ID 10
Mutation Consequence synonymous_variant
Transcription ID ENST00000241001
Start 31793740:31793740(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.828A>G
Mutation Classification Silent
Feature Type Transcript
ID 11
Mutation Consequence synonymous_variant
Transcription ID ENST00000241001
Start 31802733:31802733(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.112C>A
Mutation Classification Silent
Feature Type Transcript
ID 12
Mutation Consequence synonymous_variant
Transcription ID ENST00000241001
Start 31801597:31801597(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.321G>T
Mutation Classification Silent
Feature Type Transcript
ID 13
Mutation Consequence frameshift_variant
Transcription ID ENST00000241001
Start 31790769:31790769(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.1124delC
AA Mutation p.Pro375HisfsTer7(p.P375Hfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 14
Mutation Consequence stop_gained
Transcription ID ENST00000241001
Start 31793667:31793667(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.901C>T
AA Mutation p.Gln301Ter(p.Q301*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence splice_acceptor_variant
Transcription ID ENST00000241001
Start 31790861:31790861(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1033-1G>A
Mutation Classification Splice_Site
Feature Type Transcript