| Mutation ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000314128 |
| Start |
56343505:56343505(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2440G>T |
| AA Mutation |
p.Glu814Ter(p.E814*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
14 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000314128 |
| Start |
56346957:56346957(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1725-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> STAT2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314128 |
| Start |
56346477:56346477(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780748121
|
| CDS Mutation |
c.2009G>A |
| AA Mutation |
p.Arg670Gln(p.R670Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314128 |
| Start |
56346591:56346591(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143059589
|
| CDS Mutation |
c.1895C>T |
| AA Mutation |
p.Thr632Met(p.T632M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000314128 |
| Start |
56343425:56343425(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2520C>A |
| AA Mutation |
p.Phe840Leu(p.F840L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000314128 |
| Start |
56356478:56356478(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769566394
|
| CDS Mutation |
c.94C>T |
| AA Mutation |
p.Arg32Ter(p.R32*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000314128 |
| Start |
56356459:56356459(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.113G>A |
| AA Mutation |
p.Trp38Ter(p.W38*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000314128 |
| Start |
56348569:56348569(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1684G>T |
| AA Mutation |
p.Glu562Ter(p.E562*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|