| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355327 |
| Start |
71757939:71757939(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs766502435
|
| CDS Mutation |
c.2453C>T |
| AA Mutation |
p.Ser818Leu(p.S818L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355327 |
| Start |
71748439:71748439(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374123828
|
| CDS Mutation |
c.2260G>A |
| AA Mutation |
p.Val754Met(p.V754M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355327 |
| Start |
71748580:71748580(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2401delG |
| AA Mutation |
p.Glu801SerfsTer22(p.E801Sfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |