| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267889 |
| Start |
40370162:40370162(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4050C>G |
| AA Mutation |
p.Asp1350Glu(p.D1350E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267889 |
| Start |
40367719:40367719(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs779234646
|
| CDS Mutation |
c.1607G>A |
| AA Mutation |
p.Arg536His(p.R536H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267889 |
| Start |
40369840:40369840(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3728G>A |
| AA Mutation |
p.Ser1243Asn(p.S1243N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |