| ID |
15 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000285106 |
| Start |
50285804:50285804(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.584delG |
| AA Mutation |
p.Gly195AlafsTer32(p.G195Afs*32) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
16 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000285106 |
| Start |
50286102:50286103(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.378_379insT |
| AA Mutation |
p.Gly127TrpfsTer45(p.G127Wfs*45) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
17 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000285106 |
| Start |
50282993:50282995(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1683_1685delCGA |
| AA Mutation |
p.Asp561del(p.D561del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |