| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372808 |
| Start |
42963422:42963422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.689C>A |
| AA Mutation |
p.Ala230Asp(p.A230D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372808 |
| Start |
42963090:42963090(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs563826316
|
| CDS Mutation |
c.470G>A |
| AA Mutation |
p.Arg157Gln(p.R157Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000372808 |
| Start |
42960941:42960941(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.174C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |