| Mutation ID |
16 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000449574 |
| Start |
119346046:119346046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.271C>T |
| AA Mutation |
p.Gln91Ter(p.Q91*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000449574 |
| Start |
119345562:119345563(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs606231145
|
| CDS Mutation |
c.498dupC |
| AA Mutation |
p.Asn167GlnfsTer34(p.N167Qfs*34) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MFRP
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449574 |
| Start |
119344940:119344940(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147276252
|
| CDS Mutation |
c.706G>A |
| AA Mutation |
p.Val236Ile(p.V236I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000449574 |
| Start |
119345515:119345515(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs557306519
|
| CDS Mutation |
c.546A>G |
| AA Mutation |
p.Ile182Met(p.I182M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000449574 |
| Start |
119342618:119342618(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766909293
|
| CDS Mutation |
c.1365C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|