| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228476 |
| Start |
108892990:108892990(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.461A>T |
| AA Mutation |
p.Glu154Val(p.E154V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228476 |
| Start |
108889534:108889534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.375C>A |
| AA Mutation |
p.Phe125Leu(p.F125L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228476 |
| Start |
108894358:108894358(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.603G>T |
| AA Mutation |
p.Gln201His(p.Q201H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |