| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372431 |
| Start |
45902559:45902559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.988C>G |
| AA Mutation |
p.Leu330Val(p.L330V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372431 |
| Start |
45910004:45910004(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.267G>A |
| AA Mutation |
p.Met89Ile(p.M89I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000372431 |
| Start |
45904850:45904850(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766473918
|
| CDS Mutation |
c.892G>A |
| AA Mutation |
p.Asp298Asn(p.D298N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |