| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000616080 |
| Start |
45858785:45858785(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.379G>A |
| AA Mutation |
p.Glu127Lys(p.E127K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000616080 |
| Start |
45870515:45870515(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1532C>T |
| AA Mutation |
p.Ser511Leu(p.S511L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000616080 |
| Start |
45870121:45870121(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1263C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |