| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320741 |
| Start |
186853215:186853215(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.157C>A |
| AA Mutation |
p.Pro53Thr(p.P53T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320741 |
| Start |
186854193:186854193(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.224G>T |
| AA Mutation |
p.Gly75Val(p.G75V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320741 |
| Start |
186854471:186854471(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.502A>G |
| AA Mutation |
p.Met168Val(p.M168V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |