| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269202 |
| Start |
32204250:32204250(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs756830883
|
| CDS Mutation |
c.437G>A |
| AA Mutation |
p.Arg146Gln(p.R146Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000269202 |
| Start |
32208150:32208150(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.801delT |
| AA Mutation |
p.Phe267LeufsTer9(p.F267Lfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MEP1B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000269202 |
| Start |
32207270:32207270(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.566A>G |
| AA Mutation |
p.Asn189Ser(p.N189S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000269202 |
| Start |
32203002:32203002(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.360G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000269202 |
| Start |
32213402:32213402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1422G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000269202 |
| Start |
32217095:32217095(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201834412
|
| CDS Mutation |
c.1864C>T |
| AA Mutation |
p.Arg622Ter(p.R622*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000269202 |
| Start |
32202892:32202892(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.251-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|