| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394805 |
| Start |
139308117:139308117(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.708delT |
| AA Mutation |
p.Phe236LeufsTer176(p.F236Lfs*176) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000394805 |
| Start |
139322505:139322505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1777C>T |
| AA Mutation |
p.Arg593Ter(p.R593*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MATR3
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394805 |
| Start |
139308178:139308178(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs749245217
|
| CDS Mutation |
c.763C>T |
| AA Mutation |
p.Arg255Cys(p.R255C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394805 |
| Start |
139325531:139325531(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769251601
|
| CDS Mutation |
c.2240C>A |
| AA Mutation |
p.Ser747Tyr(p.S747Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394805 |
| Start |
139325579:139325579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2288A>G |
| AA Mutation |
p.Asp763Gly(p.D763G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394805 |
| Start |
139308117:139308117(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.708delT |
| AA Mutation |
p.Phe236LeufsTer176(p.F236Lfs*176) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
|