| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290649 |
| Start |
56403093:56403093(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.866T>C |
| AA Mutation |
p.Met289Thr(p.M289T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000290649 |
| Start |
56409493:56409493(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765166104
|
| CDS Mutation |
c.444G>A |
| AA Mutation |
p.Trp148Ter(p.W148*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000290649 |
| Start |
56385918:56385918(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1380+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |