| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000348721 |
| Start |
50607822:50607822(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.562A>G |
| AA Mutation |
p.Lys188Glu(p.K188E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000348721 |
| Start |
50607678:50607678(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.706delG |
| AA Mutation |
p.Ala236ProfsTer165(p.A236Pfs*165) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000348721 |
| Start |
50611630:50611630(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.20+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |