| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263826 |
| Start |
243512367:243512367(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1311A>C |
| AA Mutation |
p.Glu437Asp(p.E437D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000263826 |
| Start |
243613725:243613725(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.642C>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263826 |
| Start |
243645985:243645985(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.337G>T |
| AA Mutation |
p.Glu113Ter(p.E113*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |