| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374994 |
| Start |
99149253:99149253(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs113605875
|
| CDS Mutation |
c.1460G>A |
| AA Mutation |
p.Arg487Gln(p.R487Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374994 |
| Start |
99149210:99149210(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1417G>A |
| AA Mutation |
p.Glu473Lys(p.E473K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374994 |
| Start |
99142571:99142571(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.841G>A |
| AA Mutation |
p.Asp281Asn(p.D281N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |