| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243050 |
| Start |
52054372:52054372(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs375396767
|
| CDS Mutation |
c.44C>T |
| AA Mutation |
p.Pro15Leu(p.P15L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243050 |
| Start |
52054465:52054465(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.137C>T |
| AA Mutation |
p.Ala46Val(p.A46V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000243050 |
| Start |
52058816:52058816(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1669G>C |
| AA Mutation |
p.Gly557Arg(p.G557R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |