| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000258405 |
| Start |
224001882:224001882(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.19delC |
| AA Mutation |
p.Leu7SerfsTer7(p.L7Sfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000258405 |
| Start |
223980352:223980353(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1033dupA |
| AA Mutation |
p.Ile345AsnfsTer2(p.I345Nfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SERPINE2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258405 |
| Start |
224001725:224001725(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769638840
|
| CDS Mutation |
c.176C>T |
| AA Mutation |
p.Ala59Val(p.A59V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258405 |
| Start |
223977558:223977558(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757503754
|
| CDS Mutation |
c.1145G>A |
| AA Mutation |
p.Arg382Gln(p.R382Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000258405 |
| Start |
223984913:223984913(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.723C>A |
| AA Mutation |
p.Phe241Leu(p.F241L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000258405 |
| Start |
223984853:223984853(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779523539
|
| CDS Mutation |
c.783C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|