| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331677 |
| Start |
116399608:116399608(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.358A>T |
| AA Mutation |
p.Ile120Phe(p.I120F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000331677 |
| Start |
116436510:116436510(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2042A>T |
| AA Mutation |
p.Gln681Leu(p.Q681L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000331677 |
| Start |
116436818:116436818(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2350A>T |
| AA Mutation |
p.Arg784Ter(p.R784*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |