| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000576742 |
| Start |
3528967:3528967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762983049
|
| CDS Mutation |
c.1271C>T |
| AA Mutation |
p.Pro424Leu(p.P424L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000576742 |
| Start |
3526876:3526876(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1555G>A |
| AA Mutation |
p.Asp519Asn(p.D519N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000576742 |
| Start |
3532690:3532690(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764246474
|
| CDS Mutation |
c.1032G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |