| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000418115 |
| Start |
49368529:49368529(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.176A>G |
| AA Mutation |
p.Asp59Gly(p.D59G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000418115 |
| Start |
49375489:49375489(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.101A>G |
| AA Mutation |
p.Tyr34Cys(p.Y34C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000418115 |
| Start |
49368515:49368515(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.190G>C |
| AA Mutation |
p.Glu64Gln(p.E64Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |