| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000279230 |
| Start |
64267437:64267437(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3586C>T |
| AA Mutation |
p.Pro1196Ser(p.P1196S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant;splice_region_variant |
| Transcription ID |
ENST00000279230 |
| Start |
64263597:64263597(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2455+1delG |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000279230 |
| Start |
64263598:64263598(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2455+1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |