| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000218516 |
| Start |
101398867:101398868(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.718_719delAA |
| AA Mutation |
p.Lys240GlufsTer9(p.K240Efs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000218516 |
| Start |
101398907:101398907(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs104894841
|
| CDS Mutation |
c.679C>T |
| AA Mutation |
p.Arg227Ter(p.R227*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GLA
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000218516 |
| Start |
101397820:101397820(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1279G>T |
| AA Mutation |
p.Asp427Tyr(p.D427Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000218516 |
| Start |
101401753:101401753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.426C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|