| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000340438 |
| Start |
51744357:51744357(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.737delA |
| AA Mutation |
p.Asn246ThrfsTer11(p.N246Tfs*11) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000340438 |
| Start |
51744089:51744089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.463G>T |
| AA Mutation |
p.Glu155Ter(p.E155*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000340438 |
| Start |
51744768:51744769(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1148dupA |
| AA Mutation |
p.Asp384GlyfsTer16(p.D384Gfs*16) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |