| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000551812 |
| Start |
56600070:56600070(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.4925G>T |
| AA Mutation |
p.Arg1642Leu(p.R1642L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000551812 |
| Start |
56599829:56599829(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5051A>G |
| AA Mutation |
p.Lys1684Arg(p.K1684R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000551812 |
| Start |
56601787:56601787(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs367656362
|
| CDS Mutation |
c.3836A>G |
| AA Mutation |
p.His1279Arg(p.H1279R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |