| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000447346 |
| Start |
55906249:55906249(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1213G>C |
| AA Mutation |
p.Glu405Gln(p.E405Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000447346 |
| Start |
55910587:55910587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1557G>T |
| AA Mutation |
p.Lys519Asn(p.K519N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000447346 |
| Start |
55851604:55851604(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.34G>C |
| AA Mutation |
p.Ala12Pro(p.A12P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |