| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000319283 |
| Start |
39098404:39098404(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1155G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000319283 |
| Start |
39100355:39100356(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.714dupC |
| AA Mutation |
p.Glu239ArgfsTer14(p.E239Rfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000319283 |
| Start |
39103545:39103547(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.70_72delGAG |
| AA Mutation |
p.Glu24del(p.E24del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |