| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311597 |
| Start |
50076863:50076863(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.575C>T |
| AA Mutation |
p.Ala192Val(p.A192V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311597 |
| Start |
50074250:50074250(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.680A>G |
| AA Mutation |
p.His227Arg(p.H227R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311597 |
| Start |
50077455:50077455(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs770576284
|
| CDS Mutation |
c.471G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |