| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000354273 |
| Start |
112411460:112411460(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.804delC |
| AA Mutation |
p.Gly270GlufsTer3(p.G270Efs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000354273 |
| Start |
112413281:112413281(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776754164
|
| CDS Mutation |
c.1057C>T |
| AA Mutation |
p.Arg353Ter(p.R353*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000354273 |
| Start |
112409612:112409613(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.642dupC |
| AA Mutation |
p.Phe215LeufsTer2(p.F215Lfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |