| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262133 |
| Start |
53480689:53480690(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3008dupG |
| AA Mutation |
p.Asp1004ArgfsTer15(p.D1004Rfs*15) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000262133 |
| Start |
53464224:53464224(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1561-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000262133 |
| Start |
53490298:53490298(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.3418T>C |
| AA Mutation |
p.Ter1140ArgextTer2(p.*1140Rext*2) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |