| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000271971 |
| Start |
230779052:230779052(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs145648359
|
| CDS Mutation |
c.1033G>A |
| AA Mutation |
p.Ala345Thr(p.A345T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000271971 |
| Start |
230762695:230762695(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs151280259
|
| CDS Mutation |
c.445C>T |
| AA Mutation |
p.Arg149Cys(p.R149C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000271971 |
| Start |
230780547:230780547(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200514450
|
| CDS Mutation |
c.1320C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |