| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000518547 |
| Start |
124585088:124585088(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.459delA |
| AA Mutation |
p.Arg155GlufsTer34(p.R155Efs*34) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000518547 |
| Start |
124585087:124585088(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.459dupA |
| AA Mutation |
p.Gly154ArgfsTer4(p.G154Rfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MTSS1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518547 |
| Start |
124553026:124553026(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147925237
|
| CDS Mutation |
c.2234C>T |
| AA Mutation |
p.Thr745Met(p.T745M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000518547 |
| Start |
124585130:124585130(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.417G>T |
| AA Mutation |
p.Lys139Asn(p.K139N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000518547 |
| Start |
124555749:124555749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1560T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000518547 |
| Start |
124553492:124553492(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1768C>T |
| AA Mutation |
p.Arg590Ter(p.R590*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|