| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000444766 |
| Start |
61897525:61897525(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1462C>T |
| AA Mutation |
p.His488Tyr(p.H488Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000444766 |
| Start |
61881027:61881027(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2258C>A |
| AA Mutation |
p.Ser753Tyr(p.S753Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000444766 |
| Start |
61872267:61872267(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2800C>G |
| AA Mutation |
p.Gln934Glu(p.Q934E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |