| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326047 |
| Start |
44801963:44801963(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1498C>A |
| AA Mutation |
p.Leu500Met(p.L500M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000326047 |
| Start |
44851842:44851842(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3862A>T |
| AA Mutation |
p.Thr1288Ser(p.T1288S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000326047 |
| Start |
44828225:44828225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2868A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |