| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360658 |
| Start |
52221731:52221731(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2585G>T |
| AA Mutation |
p.Gly862Val(p.G862V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360658 |
| Start |
52221339:52221339(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2977C>T |
| AA Mutation |
p.Leu993Phe(p.L993F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000360658 |
| Start |
52221483:52221483(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2833G>A |
| AA Mutation |
p.Gly945Ser(p.G945S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |