| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000040584 |
| Start |
54011283:54011283(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.631G>T |
| AA Mutation |
p.Asp211Tyr(p.D211Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000040584 |
| Start |
54011268:54011268(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.616A>G |
| AA Mutation |
p.Lys206Glu(p.K206E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000040584 |
| Start |
54009551:54009551(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777616754
|
| CDS Mutation |
c.267T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |