| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000404338 |
| Start |
46921581:46921581(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2906A>T |
| AA Mutation |
p.Asn969Ile(p.N969I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000404338 |
| Start |
46922262:46922262(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3587A>T |
| AA Mutation |
p.Gln1196Leu(p.Q1196L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000404338 |
| Start |
46922012:46922012(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3337C>T |
| AA Mutation |
p.Gln1113Ter(p.Q1113*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |