| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369755 |
| Start |
104003345:104003345(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2167A>G |
| AA Mutation |
p.Lys723Glu(p.K723E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369755 |
| Start |
104002943:104002943(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1765A>T |
| AA Mutation |
p.Met589Leu(p.M589L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369755 |
| Start |
103990787:103990787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.263A>G |
| AA Mutation |
p.His88Arg(p.H88R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |