| Mutation ID |
26 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000285039 |
| Start |
49984806:49984807(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.857dupT |
| AA Mutation |
p.Tyr287LeufsTer17(p.Y287Lfs*17) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
27 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000285039 |
| Start |
49990522:49990522(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.757-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MYO5B
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285039 |
| Start |
49837584:49837584(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5071G>A |
| AA Mutation |
p.Ala1691Thr(p.A1691T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285039 |
| Start |
49826550:49826550(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5468C>A |
| AA Mutation |
p.Pro1823Gln(p.P1823Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000285039 |
| Start |
49880427:49880427(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3074C>T |
| AA Mutation |
p.Ala1025Val(p.A1025V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000285039 |
| Start |
49864333:49864333(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3651T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000285039 |
| Start |
49872197:49872197(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745654512
|
| CDS Mutation |
c.3573G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000285039 |
| Start |
49992294:49992294(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.750C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000285039 |
| Start |
49929540:49929540(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2062C>T |
| AA Mutation |
p.Arg688Ter(p.R688*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|