| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359930 |
| Start |
47678790:47678790(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1079T>C |
| AA Mutation |
p.Val360Ala(p.V360A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359930 |
| Start |
47736891:47736891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs201248076
|
| CDS Mutation |
c.227C>T |
| AA Mutation |
p.Ala76Val(p.A76V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359930 |
| Start |
47736748:47736748(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.370A>G |
| AA Mutation |
p.Ser124Gly(p.S124G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |