| ID |
14 |
| Mutation Consequence |
splice_donor_variant;coding_sequence_variant |
| Transcription ID |
ENST00000521381 |
| Start |
68295317:68295325(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1740_1745+3delCTTGATGTA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
15 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000521381 |
| Start |
68295304:68295306(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1727_1729delCGA |
| AA Mutation |
p.Thr576del(p.T576del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |
| ID |
16 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000521381 |
| Start |
68293754:68293789(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1345_1380delTTACATGAATATAACACTCAGTTTCAAGAAAAAAGT |
| AA Mutation |
p.Leu449_Ser460del(p.L449_S460del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |