Primary Site >> Esophagus Cancer

Gene >> MYH6

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000356287
Start 23390313:23390313(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs780305056
CDS Mutation c.3476C>T
AA Mutation p.Thr1159Met(p.T1159M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000356287
Start 23393508:23393508(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2939T>C
AA Mutation p.Leu980Pro(p.L980P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000356287
Start 23396710:23396710(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2276A>C
AA Mutation p.Lys759Thr(p.K759T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000356287
Start 23402590:23402590(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs760632098
CDS Mutation c.1015G>A
AA Mutation p.Val339Met(p.V339M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000356287
Start 23407074:23407074(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.150G>C
AA Mutation p.Lys50Asn(p.K50N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000356287
Start 23396786:23396786(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2200G>A
AA Mutation p.Glu734Lys(p.E734K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence synonymous_variant
Transcription ID ENST00000356287
Start 23405705:23405705(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.267C>T
Mutation Classification Silent
Feature Type Transcript
ID 8
Mutation Consequence synonymous_variant
Transcription ID ENST00000356287
Start 23394212:23394212(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774131751
CDS Mutation c.2541G>A
Mutation Classification Silent
Feature Type Transcript
ID 9
Mutation Consequence synonymous_variant
Transcription ID ENST00000356287
Start 23394221:23394221(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs756736352
CDS Mutation c.2532C>T
Mutation Classification Silent
Feature Type Transcript
ID 10
Mutation Consequence inframe_deletion
Transcription ID ENST00000356287
Start 23390123:23390125(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3664_3666delGAG
AA Mutation p.Glu1222del(p.E1222del)
Mutation Classification In_Frame_Del
Feature Type Transcript