| Mutation ID |
17 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000260926 |
| Start |
199272315:199272315(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2098G>T |
| AA Mutation |
p.Glu700Ter(p.E700*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000260926 |
| Start |
199349148:199349149(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.725_726insGGT |
| AA Mutation |
p.Leu242_Ser243insVal(p.L242_S243insV) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> SATB2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260926 |
| Start |
199349069:199349069(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.805G>A |
| AA Mutation |
p.Glu269Lys(p.E269K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260926 |
| Start |
199328792:199328792(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1292G>A |
| AA Mutation |
p.Arg431His(p.R431H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000260926 |
| Start |
199433440:199433440(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.244G>A |
| AA Mutation |
p.Ala82Thr(p.A82T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000260926 |
| Start |
199308790:199308790(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764708410
|
| CDS Mutation |
c.1710C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000260926 |
| Start |
199323941:199323941(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs542911998
|
| CDS Mutation |
c.1404G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|