| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000223061 |
| Start |
100603505:100603505(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.176delC |
| AA Mutation |
p.Pro59LeufsTer9(p.P59Lfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000223061 |
| Start |
100606579:100606579(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.894delC |
| AA Mutation |
p.Lys299SerfsTer41(p.K299Sfs*41) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000223061 |
| Start |
100603957:100603957(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.205-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |