| Mutation ID |
30 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356575 |
| Start |
3493840:3493840(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs759225724
|
| CDS Mutation |
c.4318delG |
| AA Mutation |
p.Ala1440HisfsTer78(p.A1440Hfs*78) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
31 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356575 |
| Start |
3493839:3493840(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs776208953
|
| CDS Mutation |
c.4318dupG |
| AA Mutation |
p.Ala1440GlyfsTer4(p.A1440Gfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MEGF6
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356575 |
| Start |
3515456:3515456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746367979
|
| CDS Mutation |
c.676C>T |
| AA Mutation |
p.Arg226Cys(p.R226C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356575 |
| Start |
3499177:3499177(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3055C>T |
| AA Mutation |
p.His1019Tyr(p.H1019Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356575 |
| Start |
3496705:3496705(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753892111
|
| CDS Mutation |
c.3692C>T |
| AA Mutation |
p.Thr1231Met(p.T1231M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356575 |
| Start |
3509203:3509203(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1400T>C |
| AA Mutation |
p.Phe467Ser(p.F467S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356575 |
| Start |
3498488:3498488(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3235delC |
| AA Mutation |
p.Arg1079GlyfsTer195(p.R1079Gfs*195) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|