| Mutation ID |
10 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000372037 |
| Start |
86890224:86890224(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.230delT |
| AA Mutation |
p.Ile77LysfsTer10(p.I77Kfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372037 |
| Start |
86890117:86890118(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.128dupA |
| AA Mutation |
p.Ser44ValfsTer27(p.S44Vfs*27) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> BMPR1A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372037 |
| Start |
86919381:86919381(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1078C>G |
| AA Mutation |
p.His360Asp(p.H360D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000372037 |
| Start |
86876087:86876087(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.67+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|