| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372808 |
| Start |
42963111:42963111(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs768654043
|
| CDS Mutation |
c.491C>T |
| AA Mutation |
p.Ala164Val(p.A164V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372808 |
| Start |
42963086:42963086(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.466C>T |
| AA Mutation |
p.His156Tyr(p.H156Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372808 |
| Start |
42963379:42963379(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.646G>A |
| AA Mutation |
p.Ala216Thr(p.A216T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |