| Mutation ID |
26 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000309042 |
| Start |
56929923:56929924(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1065_1066insTGTATATGT |
| AA Mutation |
p.His355_Asn356insCysIleCys(p.H355_N356insCIC) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000309042 |
| Start |
56929990:56929991(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1132_1133insGTATGAGAG |
| AA Mutation |
p.Lys378delinsSerMetArgGlu(p.K378delinsSMRE) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> REST
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309042 |
| Start |
56931861:56931861(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3003G>C |
| AA Mutation |
p.Glu1001Asp(p.E1001D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309042 |
| Start |
56911190:56911190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.552G>T |
| AA Mutation |
p.Lys184Asn(p.K184N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309042 |
| Start |
56931745:56931745(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2887A>C |
| AA Mutation |
p.Asn963His(p.N963H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000309042 |
| Start |
56930083:56930083(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1225A>G |
| AA Mutation |
p.Lys409Glu(p.K409E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000309042 |
| Start |
56919860:56919860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.972T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000309042 |
| Start |
56930460:56930460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1602G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|