| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000240662 |
| Start |
21766241:21766241(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.757C>A |
| AA Mutation |
p.Pro253Thr(p.P253T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000240662 |
| Start |
21773454:21773454(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.163C>G |
| AA Mutation |
p.Arg55Gly(p.R55G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000240662 |
| Start |
21773535:21773535(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.82C>T |
| AA Mutation |
p.Arg28Ter(p.R28*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |