| Mutation ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000290810 |
| Start |
66826749:66826749(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.85G>T |
| AA Mutation |
p.Glu29Ter(p.E29*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000290810 |
| Start |
66826584:66826584(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746007943
|
| CDS Mutation |
c.158-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NAE1
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290810 |
| Start |
66818551:66818551(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.598G>T |
| AA Mutation |
p.Asp200Tyr(p.D200Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290810 |
| Start |
66821525:66821525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.436T>C |
| AA Mutation |
p.Ser146Pro(p.S146P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000290810 |
| Start |
66823567:66823567(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761888162
|
| CDS Mutation |
c.283G>T |
| AA Mutation |
p.Glu95Ter(p.E95*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000290810 |
| Start |
66823601:66823601(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764094417
|
| CDS Mutation |
c.250-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
|