| Mutation ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000409134 |
| Start |
126546372:126546373(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1516_1517insAATAGATACTTA |
| AA Mutation |
p.Gly505_Arg506insLysTerIleLeu(p.G505_R506insK*IL) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000409134 |
| Start |
126546371:126546372(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1517_1518insA |
| AA Mutation |
p.Glu507GlyfsTer5(p.E507Gfs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ALDH7A1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000409134 |
| Start |
126546330:126546330(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1559C>T |
| AA Mutation |
p.Ser520Phe(p.S520F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000409134 |
| Start |
126554311:126554311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1176T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000409134 |
| Start |
126559288:126559288(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs114516357
|
| CDS Mutation |
c.960C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|