| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297785 |
| Start |
72917039:72917039(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.916G>A |
| AA Mutation |
p.Ala306Thr(p.A306T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000297785 |
| Start |
72909656:72909656(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1304A>C |
| AA Mutation |
p.Lys435Thr(p.K435T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000297785 |
| Start |
72952975:72952975(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.26T>G |
| AA Mutation |
p.Leu9Ter(p.L9*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |