| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262545 |
| Start |
17436797:17436797(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs144151196
|
| CDS Mutation |
c.799G>A |
| AA Mutation |
p.Ala267Thr(p.A267T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262545 |
| Start |
17481592:17481592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755466922
|
| CDS Mutation |
c.1439C>T |
| AA Mutation |
p.Pro480Leu(p.P480L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262545 |
| Start |
17481632:17481632(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1479C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |