| ID |
18 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000508342 |
| Start |
55833076:55833077(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3715dupA |
| AA Mutation |
p.Arg1239LysfsTer21(p.R1239Kfs*21) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
19 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000508342 |
| Start |
55830587:55830587(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3785-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
20 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000508342 |
| Start |
55848519:55848519(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2740+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |