| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250024 |
| Start |
19234995:19234995(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.515G>A |
| AA Mutation |
p.Arg172His(p.R172H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000250024 |
| Start |
19234823:19234823(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.687T>A |
| AA Mutation |
p.His229Gln(p.H229Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000250024 |
| Start |
19229573:19229573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1774A>T |
| AA Mutation |
p.Lys592Ter(p.K592*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |