| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263897 |
| Start |
17219754:17219754(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757389318
|
| CDS Mutation |
c.721G>A |
| AA Mutation |
p.Val241Ile(p.V241I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263897 |
| Start |
17219710:17219710(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs774321379
|
| CDS Mutation |
c.677C>T |
| AA Mutation |
p.Thr226Met(p.T226M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263897 |
| Start |
17216282:17216282(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201300912
|
| CDS Mutation |
c.345G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |