| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262418 |
| Start |
44250511:44250511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2683T>A |
| AA Mutation |
p.Phe895Ile(p.F895I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262418 |
| Start |
44258460:44258460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1040A>T |
| AA Mutation |
p.Tyr347Phe(p.Y347F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262418 |
| Start |
44251558:44251558(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2342C>T |
| AA Mutation |
p.Ser781Phe(p.S781F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |