| Mutation ID |
14 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000249750 |
| Start |
57964071:57964071(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.902-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
protein_altering_variant |
| Transcription ID |
ENST00000249750 |
| Start |
57963919:57963920(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1051_1052insAAGGAAGAT |
| AA Mutation |
p.Ser351delinsLysGlyArgCys(p.S351delinsKGRC) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ALDH1A2
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000249750 |
| Start |
57965784:57965784(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.842A>G |
| AA Mutation |
p.Lys281Arg(p.K281R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000249750 |
| Start |
57965744:57965744(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.882T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|