Primary Site >> Esophagus Cancer

Gene >> PDZD2

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32087721:32087721(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.4273A>G
AA Mutation p.Thr1425Ala(p.T1425A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32090877:32090877(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs370676238
CDS Mutation c.7429G>A
AA Mutation p.Val2477Met(p.V2477M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 31983301:31983301(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs149201593
CDS Mutation c.623G>A
AA Mutation p.Arg208Gln(p.R208Q)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 31983468:31983468(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.790T>G
AA Mutation p.Phe264Val(p.F264V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32098427:32098427(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8011C>T
AA Mutation p.Leu2671Phe(p.L2671F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32071411:32071411(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2561C>A
AA Mutation p.Ala854Glu(p.A854E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32073945:32073945(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs384728
CDS Mutation c.2839G>A
AA Mutation p.Gly947Arg(p.G947R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32074284:32074284(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3178A>G
AA Mutation p.Thr1060Ala(p.T1060A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32057669:32057669(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1915G>C
AA Mutation p.Asp639His(p.D639H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 31983163:31983163(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.485C>A
AA Mutation p.Ala162Asp(p.A162D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 32057906:32057906(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs375591884
CDS Mutation c.2003C>T
AA Mutation p.Thr668Met(p.T668M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000438447
Start 31799352:31799352(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.104G>A
AA Mutation p.Cys35Tyr(p.C35Y)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence synonymous_variant
Transcription ID ENST00000438447
Start 31983437:31983437(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.759C>T
Mutation Classification Silent
Feature Type Transcript