| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000204566 |
| Start |
64980971:64980971(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs555126484
|
| CDS Mutation |
c.118C>T |
| AA Mutation |
p.Arg40Ter(p.R40*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000204566 |
| Start |
64970187:64970188(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.487dupA |
| AA Mutation |
p.Ile163AsnfsTer17(p.I163Nfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SPG21
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000204566 |
| Start |
64970176:64970176(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.499A>C |
| AA Mutation |
p.Asn167His(p.N167H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|