| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000376503 |
| Start |
98702497:98702497(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1449delA |
| AA Mutation |
p.Glu485LysfsTer7(p.E485Kfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000376503 |
| Start |
98726371:98726371(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.100C>T |
| AA Mutation |
p.Arg34Ter(p.R34*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000376503 |
| Start |
98712570:98712571(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.737dupA |
| AA Mutation |
p.Asn246LysfsTer2(p.N246Kfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |