| Mutation ID |
26 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257963 |
| Start |
51975339:51975340(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.170dupT |
| AA Mutation |
p.Asn58GlnfsTer42(p.N58Qfs*42) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000257963 |
| Start |
51986943:51986943(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1261+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ACVR1B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257963 |
| Start |
51981158:51981158(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765649298
|
| CDS Mutation |
c.770G>A |
| AA Mutation |
p.Arg257His(p.R257H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257963 |
| Start |
51981190:51981190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.802G>A |
| AA Mutation |
p.Asp268Asn(p.D268N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000257963 |
| Start |
51976473:51976473(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.478C>T |
| AA Mutation |
p.Gln160Ter(p.Q160*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257963 |
| Start |
51976563:51976564(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.568_569insA |
| AA Mutation |
p.Gly190GlufsTer41(p.G190Efs*41) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
|