| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000225275 |
| Start |
58277848:58277848(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1183C>T |
| AA Mutation |
p.Arg395Cys(p.R395C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000225275 |
| Start |
58278034:58278034(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.997C>T |
| AA Mutation |
p.Leu333Phe(p.L333F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000225275 |
| Start |
58280415:58280415(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.199G>T |
| AA Mutation |
p.Glu67Ter(p.E67*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |