| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361445 |
| Start |
11210873:11210873(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3595C>A |
| AA Mutation |
p.Leu1199Met(p.L1199M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361445 |
| Start |
11231047:11231047(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs376873727
|
| CDS Mutation |
c.2657G>A |
| AA Mutation |
p.Arg886His(p.R886H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000361445 |
| Start |
11257005:11257005(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs757191894
|
| CDS Mutation |
c.432C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |