| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000299767 |
| Start |
103943757:103943757(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1910C>G |
| AA Mutation |
p.Ser637Cys(p.S637C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000299767 |
| Start |
103941490:103941490(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1173A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000299767 |
| Start |
103947646:103947646(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2400delA |
| AA Mutation |
p.Asp801MetfsTer56(p.D801Mfs*56) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |