| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000335613 |
| Start |
61259057:61259058(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2485_2486insAGGT |
| AA Mutation |
p.Gly829GlufsTer100(p.G829Efs*100) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000335613 |
| Start |
61281891:61281896(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.677_682delGGCCAT |
| AA Mutation |
p.Arg226_Leu228delinsMet(p.R226_L228delinsM) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> VWCE
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335613 |
| Start |
61273244:61273244(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1654C>T |
| AA Mutation |
p.Pro552Ser(p.P552S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335613 |
| Start |
61286334:61286334(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.521C>T |
| AA Mutation |
p.Ala174Val(p.A174V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000335613 |
| Start |
61271747:61271747(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778067290
|
| CDS Mutation |
c.1713C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000335613 |
| Start |
61259128:61259128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148487281
|
| CDS Mutation |
c.2415G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|