| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264818 |
| Start |
10362422:10362422(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1511A>G |
| AA Mutation |
p.Lys504Arg(p.K504R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000264818 |
| Start |
10357766:10357766(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs777406666
|
| CDS Mutation |
c.2464G>A |
| AA Mutation |
p.Glu822Lys(p.E822K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264818 |
| Start |
10350931:10350931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs143538128
|
| CDS Mutation |
c.3467C>T |
| AA Mutation |
p.Ala1156Val(p.A1156V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |