| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396923 |
| Start |
43581342:43581342(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.824C>A |
| AA Mutation |
p.Ser275Tyr(p.S275Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396923 |
| Start |
43558873:43558873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3307C>G |
| AA Mutation |
p.Leu1103Val(p.L1103V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000396923 |
| Start |
43535259:43535259(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3717C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |