| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264663 |
| Start |
43644201:43644201(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.974C>T |
| AA Mutation |
p.Ala325Val(p.A325V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264663 |
| Start |
43649186:43649186(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs199609080
|
| CDS Mutation |
c.1484A>G |
| AA Mutation |
p.Asn495Ser(p.N495S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264663 |
| Start |
43650580:43650580(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1710C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |