| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614565 |
| Start |
61923649:61923649(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760981738
|
| CDS Mutation |
c.1573G>A |
| AA Mutation |
p.Val525Met(p.V525M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000614565 |
| Start |
61929651:61929651(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2048C>T |
| AA Mutation |
p.Ala683Val(p.A683V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000614565 |
| Start |
61928251:61928251(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs368405359
|
| CDS Mutation |
c.1833C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |