| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341772 |
| Start |
229591727:229591727(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.438A>C |
| AA Mutation |
p.Glu146Asp(p.E146D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000341772 |
| Start |
229512817:229512817(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1113A>T |
| AA Mutation |
p.Gln371His(p.Q371H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000341772 |
| Start |
229447404:229447404(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1398C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |