| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377844 |
| Start |
70107503:70107503(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.197G>T |
| AA Mutation |
p.Ser66Ile(p.S66I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000377844 |
| Start |
69961423:69961423(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766173867
|
| CDS Mutation |
c.702C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377844 |
| Start |
70107684:70107684(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.16C>T |
| AA Mutation |
p.Arg6Ter(p.R6*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |