| ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000353533 |
| Start |
12125373:12125373(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.891+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000353533 |
| Start |
12081354:12081354(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.219-2A>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
11 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000353533 |
| Start |
12110394:12110405(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.657_668delAAAAGAAAACTT |
| AA Mutation |
p.Glu221_Lys224del(p.E221_K224del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |