| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000352035 |
| Start |
41884239:41884239(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2108G>A |
| AA Mutation |
p.Arg703His(p.R703H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000352035 |
| Start |
41892322:41892322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1727G>A |
| AA Mutation |
p.Arg576His(p.R576H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000352035 |
| Start |
41906536:41906536(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs115877497
|
| CDS Mutation |
c.858C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |