| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264870 |
| Start |
6145626:6145626(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2192C>T |
| AA Mutation |
p.Ser731Phe(p.S731F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000264870 |
| Start |
6224777:6224777(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.882T>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264870 |
| Start |
6248393:6248393(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.717C>A |
| AA Mutation |
p.Cys239Ter(p.C239*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |