| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296577 |
| Start |
145108046:145108046(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.221A>G |
| AA Mutation |
p.Asn74Ser(p.N74S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000296577 |
| Start |
145109245:145109245(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.401A>G |
| AA Mutation |
p.Tyr134Cys(p.Y134C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000296577 |
| Start |
145110977:145110977(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.623delA |
| AA Mutation |
p.His208ProfsTer2(p.H208Pfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |