| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376840 |
| Start |
101008134:101008134(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3110C>A |
| AA Mutation |
p.Ser1037Tyr(p.S1037Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376840 |
| Start |
101008227:101008227(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3017A>G |
| AA Mutation |
p.Glu1006Gly(p.E1006G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000376840 |
| Start |
101050422:101050422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.806A>T |
| AA Mutation |
p.Glu269Val(p.E269V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |