| ID |
16 |
| Mutation Consequence |
splice_acceptor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000379565 |
| Start |
20209403:20209428(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.127-24_128delCTCCTCTTACGTTTATCTCAACAGGA |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
17 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000379565 |
| Start |
20169401:20169401(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1443+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
18 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000379565 |
| Start |
20156180:20156181(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1984_2028dupGTAGACCCTCATCAGAGACTGACTGCTGCTCTTGTGCTCAGACAT |
| AA Mutation |
p.Val662_His676dup(p.V662_H676dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |