| Mutation ID |
37 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000333479 |
| Start |
122603072:122603073(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4938dupA |
| AA Mutation |
p.Leu1647ThrfsTer12(p.L1647Tfs*12) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
38 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000333479 |
| Start |
122571076:122571077(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1975dupA |
| AA Mutation |
p.Thr659AsnfsTer33(p.T659Nfs*33) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> KNTC1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333479 |
| Start |
122615502:122615502(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.6006C>G |
| AA Mutation |
p.Ile2002Met(p.I2002M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333479 |
| Start |
122613753:122613753(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759532010
|
| CDS Mutation |
c.5869G>A |
| AA Mutation |
p.Glu1957Lys(p.E1957K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333479 |
| Start |
122547928:122547928(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.946A>C |
| AA Mutation |
p.Asn316His(p.N316H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000333479 |
| Start |
122622554:122622554(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs538519234
|
| CDS Mutation |
c.6462G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000333479 |
| Start |
122574324:122574324(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2326G>T |
| AA Mutation |
p.Glu776Ter(p.E776*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|