| Mutation ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000261416 |
| Start |
74720697:74720698(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1564_1565insAA |
| AA Mutation |
p.Met522LysfsTer9(p.M522Kfs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
7 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000261416 |
| Start |
74718973:74718973(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1417+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> HEXB
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261416 |
| Start |
74715561:74715561(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.953C>G |
| AA Mutation |
p.Ser318Cys(p.S318C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261416 |
| Start |
74718323:74718323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1202G>A |
| AA Mutation |
p.Gly401Glu(p.G401E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000261416 |
| Start |
74685492:74685492(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.232T>G |
| AA Mutation |
p.Tyr78Asp(p.Y78D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
|