| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000403994 |
| Start |
63061778:63061778(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.629A>G |
| AA Mutation |
p.Gln210Arg(p.Q210R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000403994 |
| Start |
63061735:63061735(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.586G>T |
| AA Mutation |
p.Glu196Ter(p.E196*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000403994 |
| Start |
63044126:63044126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.214G>T |
| AA Mutation |
p.Glu72Ter(p.E72*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |