| ID |
13 |
| Mutation Consequence |
splice_donor_variant;coding_sequence_variant |
| Transcription ID |
ENST00000245479 |
| Start |
72122915:72122974(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.630_685+4delCTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
14 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000245479 |
| Start |
72124346:72124347(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1490_1492dupACT |
| AA Mutation |
p.His497_Trp498insTyr(p.H497_W498insY) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |