| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000381950 |
| Start |
38829232:38829232(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.242delT |
| AA Mutation |
p.Leu81Ter(p.L81*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000381950 |
| Start |
38829353:38829353(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.121delA |
| AA Mutation |
p.Arg41GlufsTer12(p.R41Efs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000381950 |
| Start |
38827845:38827846(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1628dupA |
| AA Mutation |
p.Asn543LysfsTer8(p.N543Kfs*8) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |