| Mutation ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000300119 |
| Start |
57028789:57028789(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs770612489
|
| CDS Mutation |
c.3098delA |
| AA Mutation |
p.Lys1033ArgfsTer8(p.K1033Rfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
17 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000300119 |
| Start |
57039276:57039276(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1270-2A>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> MYO1A
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300119 |
| Start |
57029506:57029506(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2806G>A |
| AA Mutation |
p.Gly936Arg(p.G936R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300119 |
| Start |
57031148:57031148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2376G>T |
| AA Mutation |
p.Lys792Asn(p.K792N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300119 |
| Start |
57036373:57036373(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2283G>T |
| AA Mutation |
p.Lys761Asn(p.K761N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300119 |
| Start |
57047363:57047363(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.370A>G |
| AA Mutation |
p.Lys124Glu(p.K124E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000300119 |
| Start |
57036377:57036377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762205427
|
| CDS Mutation |
c.2279G>A |
| AA Mutation |
p.Arg760Gln(p.R760Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|