| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000436072 |
| Start |
37916107:37916107(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.431C>T |
| AA Mutation |
p.Thr144Met(p.T144M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000436072 |
| Start |
37907614:37907614(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.906G>T |
| AA Mutation |
p.Lys302Asn(p.K302N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000436072 |
| Start |
37916430:37916430(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.108C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |