| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000613252 |
| Start |
71866271:71866271(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.499delC |
| AA Mutation |
p.Leu167SerfsTer27(p.L167Sfs*27) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000613252 |
| Start |
71479252:71479253(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1786dupA |
| AA Mutation |
p.Thr596AsnfsTer2(p.T596Nfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DACH1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000613252 |
| Start |
71630675:71630675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1007C>T |
| AA Mutation |
p.Ala336Val(p.A336V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000613252 |
| Start |
71489020:71489020(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372864647
|
| CDS Mutation |
c.1699G>A |
| AA Mutation |
p.Glu567Lys(p.E567K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000613252 |
| Start |
71866314:71866314(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.456C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000613252 |
| Start |
71557030:71557030(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1564G>T |
| AA Mutation |
p.Glu522Ter(p.E522*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|