| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264515 |
| Start |
205096822:205096822(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1256delC |
| AA Mutation |
p.Pro419HisfsTer9(p.P419Hfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000264515 |
| Start |
205096891:205096891(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1187C>G |
| AA Mutation |
p.Ser396Ter(p.S396*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000264515 |
| Start |
205100236:205100237(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.667dupA |
| AA Mutation |
p.Arg223LysfsTer4(p.R223Kfs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |