| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286800 |
| Start |
29326765:29326765(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.941C>T |
| AA Mutation |
p.Ser314Phe(p.S314F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286800 |
| Start |
29326270:29326270(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.446A>G |
| AA Mutation |
p.His149Arg(p.H149R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000286800 |
| Start |
29321399:29321399(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.119T>C |
| AA Mutation |
p.Val40Ala(p.V40A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |