| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000356151 |
| Start |
58399376:58399376(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1180C>G |
| AA Mutation |
p.Pro394Ala(p.P394A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000356151 |
| Start |
58397616:58397616(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs752233241
|
| CDS Mutation |
c.996T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000356151 |
| Start |
58409613:58409613(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1390C>T |
| AA Mutation |
p.Arg464Ter(p.R464*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |