| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257555 |
| Start |
120978835:120978836(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.68_69delAA |
| AA Mutation |
p.Lys23ArgfsTer9(p.K23Rfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257555 |
| Start |
121001124:121001125(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1829dupT |
| AA Mutation |
p.Leu611AlafsTer38(p.L611Afs*38) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000257555 |
| Start |
121001063:121001063(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1769-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |