| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397752 |
| Start |
116700063:116700063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.979G>A |
| AA Mutation |
p.Ala327Thr(p.A327T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397752 |
| Start |
116699319:116699319(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.235C>A |
| AA Mutation |
p.Gln79Lys(p.Q79K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397752 |
| Start |
116795778:116795778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3922T>A |
| AA Mutation |
p.Cys1308Ser(p.C1308S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |