| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264047 |
| Start |
107997939:107997939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.550G>T |
| AA Mutation |
p.Val184Leu(p.V184L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264047 |
| Start |
107993087:107993087(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.408G>A |
| AA Mutation |
p.Met136Ile(p.M136I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264047 |
| Start |
108006145:108006145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.838G>A |
| AA Mutation |
p.Gly280Arg(p.G280R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |