| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000276914 |
| Start |
19119815:19119815(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.612delA |
| AA Mutation |
p.Val205LeufsTer55(p.V205Lfs*55) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000276914 |
| Start |
19116520:19116520(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1042delG |
| AA Mutation |
p.Val348Ter(p.V348*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000276914 |
| Start |
19119690:19119691(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.736dupA |
| AA Mutation |
p.Ser246LysfsTer16(p.S246Kfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |