| ID |
9 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262887 |
| Start |
43546602:43546602(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1419A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262887 |
| Start |
43552147:43552148(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.951dupG |
| AA Mutation |
p.Lys318GlufsTer24(p.K318Efs*24) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000262887 |
| Start |
43552909:43552909(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.712-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |