| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000423485 |
| Start |
40392605:40392605(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3944C>A |
| AA Mutation |
p.Thr1315Lys(p.T1315K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000423485 |
| Start |
40412762:40412762(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.786G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000423485 |
| Start |
40408119:40408119(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1348C>T |
| AA Mutation |
p.Arg450Ter(p.R450*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |