| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263182 |
| Start |
27115484:27115484(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.566C>A |
| AA Mutation |
p.Ala189Glu(p.A189E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000263182 |
| Start |
27093215:27093215(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.382G>A |
| AA Mutation |
p.Glu128Lys(p.E128K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000263182 |
| Start |
27093248:27093248(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.415A>T |
| AA Mutation |
p.Lys139Ter(p.K139*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |