| Mutation ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256103 |
| Start |
81444905:81444905(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769091717
|
| CDS Mutation |
c.158G>A |
| AA Mutation |
p.Arg53Gln(p.R53Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| Mutation ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000256103 |
| Start |
81447346:81447346(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.41G>A |
| AA Mutation |
p.Ser14Asn(p.S14N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
Rectum Cancer: Gene >> PMP2
| Mutation ID |
1 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000256103 |
| Start |
81444906:81444906(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375558516
|
| CDS Mutation |
c.157C>T |
| AA Mutation |
p.Arg53Ter(p.R53*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
|