| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308059 |
| Start |
38085424:38085424(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776453700
|
| CDS Mutation |
c.1412G>A |
| AA Mutation |
p.Arg471Gln(p.R471Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000308059 |
| Start |
38121683:38121683(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4922G>T |
| AA Mutation |
p.Trp1641Leu(p.W1641L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000308059 |
| Start |
38062242:38062242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs765051280
|
| CDS Mutation |
c.747C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |