| Mutation ID |
22 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126153568:126153568(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs745759751
|
| CDS Mutation |
c.734delT |
| AA Mutation |
p.Phe245SerfsTer5(p.F245Sfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
23 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126153582:126153582(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.721-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ALDH1L1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126105771:126105771(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200290145
|
| CDS Mutation |
c.2608G>A |
| AA Mutation |
p.Ala870Thr(p.A870T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126109982:126109982(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2309C>T |
| AA Mutation |
p.Ala770Val(p.A770V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126135559:126135559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs148251029
|
| CDS Mutation |
c.1448G>A |
| AA Mutation |
p.Arg483Gln(p.R483Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126103799:126103799(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs550440307
|
| CDS Mutation |
c.2701G>A |
| AA Mutation |
p.Glu901Lys(p.E901K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126137928:126137928(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1109G>C |
| AA Mutation |
p.Gly370Ala(p.G370A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126107202:126107202(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2392A>G |
| AA Mutation |
p.Met798Val(p.M798V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126155496:126155496(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.536C>T |
| AA Mutation |
p.Ala179Val(p.A179V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126136818:126136818(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs373953914
|
| CDS Mutation |
c.1290C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000393434 |
| Start |
126153534:126153534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149145858
|
| CDS Mutation |
c.768C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|