| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298048 |
| Start |
36589626:36589626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.235G>A |
| AA Mutation |
p.Ala79Thr(p.A79T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298048 |
| Start |
36677321:36677321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1940C>A |
| AA Mutation |
p.Ser647Tyr(p.S647Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000298048 |
| Start |
36665455:36665455(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1282A>G |
| AA Mutation |
p.Thr428Ala(p.T428A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |