| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296861 |
| Start |
47232949:47232949(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1784A>G |
| AA Mutation |
p.Asp595Gly(p.D595G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296861 |
| Start |
47284322:47284322(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.859G>A |
| AA Mutation |
p.Asp287Asn(p.D287N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000296861 |
| Start |
47286005:47286005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.687C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |