| Mutation ID |
42 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000399231 |
| Start |
52410392:52410392(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.697C>T |
| AA Mutation |
p.Arg233Ter(p.R233*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
43 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000399231 |
| Start |
52336477:52336478(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4318dupA |
| AA Mutation |
p.Ile1440AsnfsTer19(p.I1440Nfs*19) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MYO5A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399231 |
| Start |
52428520:52428520(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766669585
|
| CDS Mutation |
c.188G>A |
| AA Mutation |
p.Arg63Gln(p.R63Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399231 |
| Start |
52389246:52389246(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1660G>T |
| AA Mutation |
p.Ala554Ser(p.A554S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399231 |
| Start |
52370378:52370378(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2857C>A |
| AA Mutation |
p.Leu953Met(p.L953M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000399231 |
| Start |
52319198:52319198(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.5021T>A |
| AA Mutation |
p.Val1674Asp(p.V1674D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000399231 |
| Start |
52330465:52330465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4368C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|