| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000550765 |
| Start |
48922128:48922128(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757467836
|
| CDS Mutation |
c.462G>T |
| AA Mutation |
p.Lys154Asn(p.K154N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000550765 |
| Start |
48924258:48924258(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.284-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> FKBP11
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000550765 |
| Start |
48921990:48921990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.600G>T |
| AA Mutation |
p.Lys200Asn(p.K200N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000550765 |
| Start |
48924236:48924236(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.304G>A |
| AA Mutation |
p.Asp102Asn(p.D102N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000550765 |
| Start |
48922075:48922075(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.515T>A |
| AA Mutation |
p.Ile172Asn(p.I172N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000550765 |
| Start |
48923845:48923845(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778229387
|
| CDS Mutation |
c.325C>T |
| AA Mutation |
p.Arg109Ter(p.R109*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|