| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441310 |
| Start |
189877393:189877393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147566508
|
| CDS Mutation |
c.2756G>A |
| AA Mutation |
p.Arg919His(p.R919H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000441310 |
| Start |
189853958:189853958(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.842A>G |
| AA Mutation |
p.Asn281Ser(p.N281S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000441310 |
| Start |
189863825:189863825(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1939C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |