| Mutation ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262097 |
| Start |
18059440:18059440(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.942delG |
| AA Mutation |
p.Trp314CysfsTer28(p.W314Cfs*28) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262097 |
| Start |
18064505:18064505(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.409delT |
| AA Mutation |
p.Tyr137MetfsTer10(p.Y137Mfs*10) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ASAH1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262097 |
| Start |
18063189:18063189(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.499C>A |
| AA Mutation |
p.Leu167Ile(p.L167I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262097 |
| Start |
18057579:18057579(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375983141
|
| CDS Mutation |
c.1143C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|