| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394412 |
| Start |
89648661:89648661(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1037C>T |
| AA Mutation |
p.Ala346Val(p.A346V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394412 |
| Start |
89633867:89633867(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2411A>C |
| AA Mutation |
p.Lys804Thr(p.K804T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394412 |
| Start |
89632990:89632990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2725G>C |
| AA Mutation |
p.Glu909Gln(p.E909Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |