| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332839 |
| Start |
40430114:40430114(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.167A>C |
| AA Mutation |
p.Lys56Thr(p.K56T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332839 |
| Start |
40429850:40429850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.431C>A |
| AA Mutation |
p.Ser144Tyr(p.S144Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332839 |
| Start |
40429520:40429520(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.761G>T |
| AA Mutation |
p.Arg254Met(p.R254M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |