| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000439930 |
| Start |
53459319:53459319(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs571129099
|
| CDS Mutation |
c.291G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000439930 |
| Start |
53461080:53461081(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.442_443delAT |
| AA Mutation |
p.Ile148CysfsTer9(p.I148Cfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000439930 |
| Start |
53455372:53455372(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.93+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |