| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000359308 |
| Start |
41636523:41636523(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.342A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359308 |
| Start |
41628151:41628151(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.122delT |
| AA Mutation |
p.Leu41TrpfsTer17(p.L41Wfs*17) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000359308 |
| Start |
41656902:41656902(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1292-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |