| Mutation ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389054 |
| Start |
141573820:141573820(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2030delC |
| AA Mutation |
p.Pro677HisfsTer91(p.P677Hfs*91) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| Mutation ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389054 |
| Start |
141573742:141573742(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs776958288
|
| CDS Mutation |
c.2108delC |
| AA Mutation |
p.Pro703HisfsTer65(p.P703Hfs*65) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> DIAPH1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389054 |
| Start |
141527675:141527675(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3171G>T |
| AA Mutation |
p.Lys1057Asn(p.K1057N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389054 |
| Start |
141534402:141534402(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761209182
|
| CDS Mutation |
c.2514G>T |
| AA Mutation |
p.Lys838Asn(p.K838N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000389054 |
| Start |
141579172:141579172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.849G>T |
| AA Mutation |
p.Met283Ile(p.M283I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000389054 |
| Start |
141573816:141573816(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2034T>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|