| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287598 |
| Start |
40218460:40218460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2855A>T |
| AA Mutation |
p.Asp952Val(p.D952V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287598 |
| Start |
40209707:40209707(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2216C>T |
| AA Mutation |
p.Ala739Val(p.A739V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000287598 |
| Start |
40217584:40217584(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760104068
|
| CDS Mutation |
c.2767G>T |
| AA Mutation |
p.Asp923Tyr(p.D923Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |