| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000445964 |
| Start |
233163828:233163828(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1366delC |
| AA Mutation |
p.Leu456Ter(p.L456*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000445964 |
| Start |
233163849:233163849(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1383G>A |
| AA Mutation |
p.Trp461Ter(p.W461*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000445964 |
| Start |
233184428:233184429(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2184dupA |
| AA Mutation |
p.Gly729ArgfsTer4(p.G729Rfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |