| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000621226 |
| Start |
1168936:1168936(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1780G>A |
| AA Mutation |
p.Ala594Thr(p.A594T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000621226 |
| Start |
1162041:1162041(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs747696530
|
| CDS Mutation |
c.346G>A |
| AA Mutation |
p.Glu116Lys(p.E116K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000621226 |
| Start |
1195232:1195232(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs543190470
|
| CDS Mutation |
c.15411G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |