| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311852 |
| Start |
22841570:22841570(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs554056813
|
| CDS Mutation |
c.188C>T |
| AA Mutation |
p.Ala63Val(p.A63V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311852 |
| Start |
22836834:22836834(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs17884647
|
| CDS Mutation |
c.17G>A |
| AA Mutation |
p.Arg6Lys(p.R6K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000311852 |
| Start |
22836871:22836871(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.54C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |