| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000020945 |
| Start |
48919926:48919926(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.595T>G |
| AA Mutation |
p.Leu199Val(p.L199V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000020945 |
| Start |
48920067:48920067(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.454G>A |
| AA Mutation |
p.Asp152Asn(p.D152N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000020945 |
| Start |
48921209:48921209(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.57C>G |
| AA Mutation |
p.Tyr19Ter(p.Y19*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |