| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000005178 |
| Start |
95587732:95587732(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.865A>T |
| AA Mutation |
p.Ile289Phe(p.I289F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000005178 |
| Start |
95587500:95587500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.899T>G |
| AA Mutation |
p.Leu300Arg(p.L300R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000005178 |
| Start |
95592839:95592839(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs769225726
|
| CDS Mutation |
c.450C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |