| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380117 |
| Start |
23701386:23701386(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs772784712
|
| CDS Mutation |
c.706C>T |
| AA Mutation |
p.Arg236Cys(p.R236C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000380117 |
| Start |
23692695:23692695(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.942T>G |
| AA Mutation |
p.Asn314Lys(p.N314K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000380117 |
| Start |
23705057:23705057(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.348C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |