| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295894 |
| Start |
63609138:63609138(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.362C>T |
| AA Mutation |
p.Thr121Ile(p.T121I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000295894 |
| Start |
63480833:63480833(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.30delT |
| AA Mutation |
p.Phe10LeufsTer18(p.F10Lfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SYNPR
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295894 |
| Start |
63615235:63615235(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.552C>A |
| AA Mutation |
p.Phe184Leu(p.F184L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295894 |
| Start |
63615371:63615371(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.688G>T |
| AA Mutation |
p.Asp230Tyr(p.D230Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|