| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000602795 |
| Start |
58989901:58989901(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.755C>T |
| AA Mutation |
p.Ala252Val(p.A252V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000602795 |
| Start |
58990983:58990983(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs767283769
|
| CDS Mutation |
c.916G>A |
| AA Mutation |
p.Gly306Arg(p.G306R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000602795 |
| Start |
58991992:58991992(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1255G>T |
| AA Mutation |
p.Glu419Ter(p.E419*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |