| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42688280:42688280(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4918C>A |
| AA Mutation |
p.Leu1640Met(p.L1640M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372899 |
| Start |
42603702:42603702(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.646G>A |
| AA Mutation |
p.Ala216Thr(p.A216T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000372899 |
| Start |
42691063:42691063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5158C>T |
| AA Mutation |
p.Arg1720Ter(p.R1720*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |