| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000560031 |
| Start |
49319737:49319737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1101C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant;intron_variant |
| Transcription ID |
ENST00000560031 |
| Start |
49239368:49239372(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.504+1_504+5delGTAAC |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000560031 |
| Start |
49292403:49292404(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.833_834insCCAGAT |
| AA Mutation |
p.Ser278_Leu279insGlnIle(p.S278_L279insQI) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |