| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000354724 |
| Start |
79765737:79765737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.366T>A |
| AA Mutation |
p.Tyr122Ter(p.Y122*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000354724 |
| Start |
79765333:79765335(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.768_770delCTC |
| AA Mutation |
p.Ser257del(p.S257del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HEY1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354724 |
| Start |
79765426:79765426(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.677C>T |
| AA Mutation |
p.Ala226Val(p.A226V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000354724 |
| Start |
79767015:79767015(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.243G>T |
| AA Mutation |
p.Glu81Asp(p.E81D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000354724 |
| Start |
79765758:79765758(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.345G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000354724 |
| Start |
79765188:79765188(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.915A>C |
| AA Mutation |
p.Ter305TyrextTer6(p.*305Yext*6) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |
|