| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265748 |
| Start |
36396363:36396363(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.116G>T |
| AA Mutation |
p.Arg39Leu(p.R39L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265748 |
| Start |
36421888:36421888(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766163761
|
| CDS Mutation |
c.2195C>T |
| AA Mutation |
p.Thr732Ile(p.T732I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000265748 |
| Start |
36406215:36406215(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.522G>A |
| AA Mutation |
p.Met174Ile(p.M174I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |