| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356073 |
| Start |
55234643:55234643(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1391G>T |
| AA Mutation |
p.Ser464Ile(p.S464I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000356073 |
| Start |
55350967:55350967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.406C>A |
| AA Mutation |
p.Pro136Thr(p.P136T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398339 |
| Start |
55635832:55635832(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.66T>G |
| AA Mutation |
p.Ile22Met(p.I22M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |