| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000225792 |
| Start |
64499936:64499936(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1832G>T |
| AA Mutation |
p.Gly611Val(p.G611V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000225792 |
| Start |
64500311:64500311(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1457G>C |
| AA Mutation |
p.Arg486Thr(p.R486T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000225792 |
| Start |
64502993:64502993(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.916G>T |
| AA Mutation |
p.Glu306Ter(p.E306*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |