| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398291 |
| Start |
80494644:80494644(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.122C>T |
| AA Mutation |
p.Ala41Val(p.A41V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398291 |
| Start |
80474308:80474308(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.533G>A |
| AA Mutation |
p.Arg178Gln(p.R178Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000398291 |
| Start |
80488592:80488592(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.246A>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |