| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219789 |
| Start |
29859205:29859205(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.626G>A |
| AA Mutation |
p.Arg209His(p.R209H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219789 |
| Start |
29862832:29862832(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.26T>G |
| AA Mutation |
p.Phe9Cys(p.F9C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000219789 |
| Start |
29861146:29861146(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.292A>G |
| AA Mutation |
p.Met98Val(p.M98V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |