| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367435 |
| Start |
193147882:193147883(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.750dupT |
| AA Mutation |
p.Ala251CysfsTer16(p.A251Cfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000367435 |
| Start |
193233155:193233155(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1316+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CDC73
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367435 |
| Start |
193135403:193135403(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.320G>T |
| AA Mutation |
p.Ser107Ile(p.S107I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367435 |
| Start |
193135582:193135582(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.416G>A |
| AA Mutation |
p.Arg139Gln(p.R139Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000367435 |
| Start |
193150379:193150379(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.904G>T |
| AA Mutation |
p.Glu302Ter(p.E302*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|