| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324972 |
| Start |
96076127:96076127(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1631A>G |
| AA Mutation |
p.His544Arg(p.H544R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324972 |
| Start |
96035691:96035691(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs748814410
|
| CDS Mutation |
c.1354G>A |
| AA Mutation |
p.Val452Ile(p.V452I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000324972 |
| Start |
95813321:95813321(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.349C>A |
| AA Mutation |
p.Leu117Met(p.L117M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |