Primary Site >> Esophagus Cancer

Gene >> MUC6

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000421673
Start 1017612:1017612(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5189C>G
AA Mutation p.Thr1730Ser(p.T1730S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000421673
Start 1026436:1026436(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2437C>T
AA Mutation p.Leu813Phe(p.L813F)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence synonymous_variant
Transcription ID ENST00000421673
Start 1031203:1031203(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.540C>T
Mutation Classification Silent
Feature Type Transcript
ID 4
Mutation Consequence synonymous_variant
Transcription ID ENST00000421673
Start 1025814:1025814(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2790C>T
Mutation Classification Silent
Feature Type Transcript
ID 5
Mutation Consequence frameshift_variant
Transcription ID ENST00000421673
Start 1016373:1016376(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6425_6428delCTTC
AA Mutation p.Ser2142PhefsTer33(p.S2142Ffs*33)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 6
Mutation Consequence frameshift_variant
Transcription ID ENST00000421673
Start 1016221:1016224(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6577_6580delTCTG
AA Mutation p.Ser2193HisfsTer48(p.S2193Hfs*48)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 7
Mutation Consequence frameshift_variant
Transcription ID ENST00000421673
Start 1018731:1018732(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.4065_4069dupGGCCA
AA Mutation p.Thr1357ArgfsTer101(p.T1357Rfs*101)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 8
Mutation Consequence splice_donor_variant;coding_sequence_variant;intron_variant
Transcription ID ENST00000421673
Start 1030882:1030955(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.676_684+65delGCCCAGCACGTAAGCAAGGGGGCTCCAGGTGGGGCTGACCCCAGGTCTGACAGGGTCGCCGAGACCACCAAGGG
Mutation Classification Splice_Site
Feature Type Transcript
ID 9
Mutation Consequence inframe_deletion
Transcription ID ENST00000421673
Start 1028313:1028348(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1631_1666delTCACCACTAGCATGGGTATCGCCGAGGGCACCGCCT
AA Mutation p.Phe544_Ala555del(p.F544_A555del)
Mutation Classification In_Frame_Del
Feature Type Transcript