| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263780 |
| Start |
87249922:87249922(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.369A>C |
| AA Mutation |
p.Gln123His(p.Q123H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263780 |
| Start |
87253444:87253444(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758354665
|
| CDS Mutation |
c.465C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> CHMP2B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263780 |
| Start |
87253478:87253478(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.499C>A |
| AA Mutation |
p.Leu167Ile(p.L167I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263780 |
| Start |
87245806:87245806(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754433917
|
| CDS Mutation |
c.219G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263780 |
| Start |
87253736:87253736(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs63751048
|
| CDS Mutation |
c.556C>T |
| AA Mutation |
p.Arg186Ter(p.R186*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|