| Mutation ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000265433 |
| Start |
89946251:89946252(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs780235686
|
| CDS Mutation |
c.1958dupA |
| AA Mutation |
p.Leu654AlafsTer5(p.L654Afs*5) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| Mutation ID |
10 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000265433 |
| Start |
89964409:89964409(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.994+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NBN
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265433 |
| Start |
89970520:89970520(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.740G>A |
| AA Mutation |
p.Gly247Glu(p.G247E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265433 |
| Start |
89946148:89946148(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2062T>G |
| AA Mutation |
p.Phe688Val(p.F688V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265433 |
| Start |
89964456:89964456(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.948C>A |
| AA Mutation |
p.Phe316Leu(p.F316L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265433 |
| Start |
89946228:89946228(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1982C>A |
| AA Mutation |
p.Ser661Ter(p.S661*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265433 |
| Start |
89955533:89955533(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1147G>T |
| AA Mutation |
p.Glu383Ter(p.E383*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|