| Mutation ID |
17 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000424383 |
| Start |
1744741:1744741(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.150delC |
| AA Mutation |
p.Tyr51ThrfsTer115(p.Y51Tfs*115) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
18 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000424383 |
| Start |
1745938:1745938(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1342G>T |
| AA Mutation |
p.Glu448Ter(p.E448*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> ELFN1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000424383 |
| Start |
1747034:1747034(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2438A>C |
| AA Mutation |
p.His813Pro(p.H813P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000424383 |
| Start |
1745096:1745096(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs763830123
|
| CDS Mutation |
c.500G>A |
| AA Mutation |
p.Arg167His(p.R167H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000424383 |
| Start |
1744983:1744983(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140278883
|
| CDS Mutation |
c.387C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000424383 |
| Start |
1745877:1745877(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745358632
|
| CDS Mutation |
c.1281C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|