| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265769 |
| Start |
24300046:24300046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.119A>G |
| AA Mutation |
p.His40Arg(p.H40R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000265769 |
| Start |
24323881:24323881(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.768C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000265769 |
| Start |
24343518:24343518(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1924G>T |
| AA Mutation |
p.Glu642Ter(p.E642*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |