| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000271153 |
| Start |
46812521:46812521(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755650253
|
| CDS Mutation |
c.393G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000271153 |
| Start |
46799239:46799239(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs773563294
|
| CDS Mutation |
c.158G>A |
| AA Mutation |
p.Trp53Ter(p.W53*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000271153 |
| Start |
46814207:46814207(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.773-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |