| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000266041 |
| Start |
52827104:52827104(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.345T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000266041 |
| Start |
52821111:52821112(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1558_1559delTT |
| AA Mutation |
p.Phe520ProfsTer47(p.F520Pfs*47) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000266041 |
| Start |
52826016:52826016(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.631-2A>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |