| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257359 |
| Start |
130408833:130408833(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1858delC |
| AA Mutation |
p.Arg620GlyfsTer23(p.R620Gfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257359 |
| Start |
130427668:130427668(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.619delG |
| AA Mutation |
p.Ala207ProfsTer38(p.A207Pfs*38) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ADAMTS8
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257359 |
| Start |
130419145:130419145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.868C>A |
| AA Mutation |
p.Leu290Met(p.L290M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000257359 |
| Start |
130405684:130405684(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776676907
|
| CDS Mutation |
c.2544C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257359 |
| Start |
130419259:130419259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764824360
|
| CDS Mutation |
c.754C>T |
| AA Mutation |
p.Arg252Ter(p.R252*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|