| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000351298 |
| Start |
171735622:171735622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.304C>T |
| AA Mutation |
p.Leu102Phe(p.L102F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000351298 |
| Start |
171677586:171677586(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1976A>G |
| AA Mutation |
p.Gln659Arg(p.Q659R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000351298 |
| Start |
171726024:171726024(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.659A>T |
| AA Mutation |
p.Lys220Met(p.K220M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |