| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262710 |
| Start |
23079920:23079920(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs759456344
|
| CDS Mutation |
c.1589C>T |
| AA Mutation |
p.Pro530Leu(p.P530L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262710 |
| Start |
23061089:23061089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3694A>G |
| AA Mutation |
p.Ser1232Gly(p.S1232G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262710 |
| Start |
23063015:23063015(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2971A>G |
| AA Mutation |
p.Ile991Val(p.I991V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |