| Mutation ID |
14 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000308159 |
| Start |
56805570:56805570(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.427C>T |
| AA Mutation |
p.Arg143Ter(p.R143*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
15 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000308159 |
| Start |
56833407:56833407(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs138909849
|
| CDS Mutation |
c.1537+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> NUP93
| Mutation ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308159 |
| Start |
56832316:56832316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs778499994
|
| CDS Mutation |
c.1273G>A |
| AA Mutation |
p.Asp425Asn(p.D425N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000308159 |
| Start |
56818717:56818717(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.543C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
|