| ID |
8 |
| Mutation Consequence |
splice_donor_variant;coding_sequence_variant;intron_variant |
| Transcription ID |
ENST00000347140 |
| Start |
57268915:57268951(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1804_1833+7delGTTCAGTACACTCCACTGCCTTCTTACCAAGTGGGTG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000347140 |
| Start |
57280419:57280420(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1238_1240dupAAC |
| AA Mutation |
p.Gln413dup(p.Q413dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |