| Mutation ID |
23 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000206249 |
| Start |
151880692:151880692(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.681C>A |
| AA Mutation |
p.Cys227Ter(p.C227*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
24 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000206249 |
| Start |
151842613:151842613(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs104893956
|
| CDS Mutation |
c.469C>T |
| AA Mutation |
p.Arg157Ter(p.R157*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ESR1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000206249 |
| Start |
151807941:151807941(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.29C>G |
| AA Mutation |
p.Ser10Cys(p.S10C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000206249 |
| Start |
151880739:151880739(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs753014570
|
| CDS Mutation |
c.728G>A |
| AA Mutation |
p.Arg243His(p.R243H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000206249 |
| Start |
151880661:151880661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.650A>G |
| AA Mutation |
p.Asn217Ser(p.N217S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000206249 |
| Start |
151842712:151842712(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.568G>A |
| AA Mutation |
p.Asp190Asn(p.D190N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000206249 |
| Start |
151880750:151880750(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778449608
|
| CDS Mutation |
c.739G>A |
| AA Mutation |
p.Glu247Lys(p.E247K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000206249 |
| Start |
151944470:151944470(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1058A>G |
| AA Mutation |
p.Glu353Gly(p.E353G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000206249 |
| Start |
151807999:151807999(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.87G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000206249 |
| Start |
152098731:152098731(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1554-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000206249 |
| Start |
151842596:151842596(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.453-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|