| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000272771 |
| Start |
192184455:192184455(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.311G>A |
| AA Mutation |
p.Gly104Asp(p.G104D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000272771 |
| Start |
191956272:191956272(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.852G>A |
| AA Mutation |
p.Met284Ile(p.M284I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000272771 |
| Start |
191999117:191999117(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.628G>T |
| AA Mutation |
p.Glu210Ter(p.E210*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |