| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000267978 |
| Start |
75362359:75362359(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.992delG |
| AA Mutation |
p.Gly331AlafsTer17(p.G331Afs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000267978 |
| Start |
75356818:75356818(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs202029676
|
| CDS Mutation |
c.2632C>T |
| AA Mutation |
p.Arg878Ter(p.R878*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MAN2C1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000267978 |
| Start |
75359060:75359060(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2140A>G |
| AA Mutation |
p.Arg714Gly(p.R714G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267978 |
| Start |
75368136:75368136(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.164C>T |
| AA Mutation |
p.Pro55Leu(p.P55L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000267978 |
| Start |
75356218:75356218(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs754290709
|
| CDS Mutation |
c.2888C>T |
| AA Mutation |
p.Ala963Val(p.A963V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|