| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312233 |
| Start |
53514755:53514755(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1228delC |
| AA Mutation |
p.His410IlefsTer53(p.H410Ifs*53) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000312233 |
| Start |
53509168:53509168(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1657delC |
| AA Mutation |
p.Leu553CysfsTer97(p.L553Cfs*97) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> GLIS1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312233 |
| Start |
53509215:53509215(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1610C>A |
| AA Mutation |
p.Ala537Glu(p.A537E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312233 |
| Start |
53594239:53594239(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.664G>A |
| AA Mutation |
p.Asp222Asn(p.D222N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|