| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361507 |
| Start |
78220395:78220395(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1811C>T |
| AA Mutation |
p.Ala604Val(p.A604V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361507 |
| Start |
78226910:78226910(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376813781
|
| CDS Mutation |
c.762G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000361507 |
| Start |
78226477:78226477(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1195C>T |
| AA Mutation |
p.Arg399Ter(p.R399*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |