| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221847 |
| Start |
4234676:4234676(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.389A>G |
| AA Mutation |
p.Asp130Gly(p.D130G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221847 |
| Start |
4236945:4236945(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.547A>T |
| AA Mutation |
p.Ile183Phe(p.I183F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221847 |
| Start |
4231316:4231316(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.193A>G |
| AA Mutation |
p.Thr65Ala(p.T65A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |