| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000520113 |
| Start |
114686828:114686828(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.397G>C |
| AA Mutation |
p.Asp133His(p.D133H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000520113 |
| Start |
114675617:114675617(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1691A>T |
| AA Mutation |
p.Gln564Leu(p.Q564L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000520113 |
| Start |
114677465:114677465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1373G>T |
| AA Mutation |
p.Arg458Leu(p.R458L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |