| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389924 |
| Start |
63800576:63800576(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.586delA |
| AA Mutation |
p.Ile196SerfsTer29(p.I196Sfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000389924 |
| Start |
63808921:63808921(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1129delG |
| AA Mutation |
p.Ala377GlnfsTer11(p.A377Qfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000389924 |
| Start |
63809638:63809638(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1231C>T |
| AA Mutation |
p.Arg411Ter(p.R411*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |