| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350526 |
| Start |
222221308:222221308(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.872C>A |
| AA Mutation |
p.Pro291His(p.P291H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350526 |
| Start |
222220153:222220153(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1160G>A |
| AA Mutation |
p.Gly387Asp(p.G387D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000350526 |
| Start |
222298594:222298594(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.22G>T |
| AA Mutation |
p.Val8Leu(p.V8L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |