| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000555728 |
| Start |
55698760:55698760(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1080G>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000555728 |
| Start |
55688054:55688057(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3229_3232delGCAG |
| AA Mutation |
p.Ala1077LysfsTer19(p.A1077Kfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000555728 |
| Start |
55693318:55693318(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2668-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |