| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264867 |
| Start |
23824500:23824500(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.766A>G |
| AA Mutation |
p.Thr256Ala(p.T256A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000264867 |
| Start |
23795889:23795889(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2330A>T |
| AA Mutation |
p.Lys777Met(p.K777M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained;splice_region_variant |
| Transcription ID |
ENST00000264867 |
| Start |
23802225:23802225(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2140G>T |
| AA Mutation |
p.Gly714Ter(p.G714*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |