| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000281806 |
| Start |
99947958:99947958(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs774746204
|
| CDS Mutation |
c.196delA |
| AA Mutation |
p.Thr66GlnfsTer18(p.T66Qfs*18) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
13 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000281806 |
| Start |
99942947:99942947(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.587+2T>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MCHR2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000281806 |
| Start |
99956108:99956108(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142259467
|
| CDS Mutation |
c.40G>A |
| AA Mutation |
p.Glu14Lys(p.E14K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000281806 |
| Start |
99956016:99956016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.132C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000281806 |
| Start |
99947844:99947845(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.309dupG |
| AA Mutation |
p.Pro104AlafsTer13(p.P104Afs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|