| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000396432 |
| Start |
24619638:24619638(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs761869137
|
| CDS Mutation |
c.2257C>T |
| AA Mutation |
p.His753Tyr(p.H753Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000396432 |
| Start |
24620821:24620821(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1074C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000396432 |
| Start |
24591967:24591967(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3922C>T |
| AA Mutation |
p.Arg1308Ter(p.R1308*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |