| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222271 |
| Start |
18788669:18788669(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.685T>A |
| AA Mutation |
p.Cys229Ser(p.C229S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000222271 |
| Start |
18785761:18785761(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1580C>T |
| AA Mutation |
p.Thr527Met(p.T527M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000222271 |
| Start |
18784944:18784944(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1866G>A |
| AA Mutation |
p.Trp622Ter(p.W622*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |