| Mutation ID |
9 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000247001 |
| Start |
19278793:19278793(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1532G>A |
| AA Mutation |
p.Trp511Ter(p.W511*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000247001 |
| Start |
19276948:19276949(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1909dupC |
| AA Mutation |
p.Leu637ProfsTer19(p.L637Pfs*19) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SUGP1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000247001 |
| Start |
19303725:19303725(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.661G>T |
| AA Mutation |
p.Ala221Ser(p.A221S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|