| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375486 |
| Start |
17075696:17075696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1438C>T |
| AA Mutation |
p.Pro480Ser(p.P480S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000375486 |
| Start |
17069181:17069181(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1861C>T |
| AA Mutation |
p.Leu621Phe(p.L621F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000375486 |
| Start |
17083819:17083819(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs141844952
|
| CDS Mutation |
c.957G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |