| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359106 |
| Start |
50572711:50572711(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.904T>C |
| AA Mutation |
p.Tyr302His(p.Y302H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359106 |
| Start |
50600748:50600748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs751825784
|
| CDS Mutation |
c.3713C>T |
| AA Mutation |
p.Ala1238Val(p.A1238V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359106 |
| Start |
50599847:50599847(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752544601
|
| CDS Mutation |
c.3678C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |