| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398564 |
| Start |
1933836:1933836(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs573337230
|
| CDS Mutation |
c.3191A>G |
| AA Mutation |
p.Lys1064Arg(p.K1064R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000398564 |
| Start |
1926387:1926387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2696C>A |
| AA Mutation |
p.Ala899Asp(p.A899D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000398564 |
| Start |
1893634:1893634(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1323G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |