| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000216024 |
| Start |
38538335:38538335(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.735delA |
| AA Mutation |
p.Lys245AsnfsTer22(p.K245Nfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000216024 |
| Start |
38539396:38539397(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.510dupT |
| AA Mutation |
p.Arg171Ter(p.R171*) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000216024 |
| Start |
38552665:38552665(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.421+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |