| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000342854 |
| Start |
134138094:134138095(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.486_487dupCT |
| AA Mutation |
p.Tyr163SerfsTer37(p.Y163Sfs*37) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000342854 |
| Start |
134143101:134143101(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1026+1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000342854 |
| Start |
134142845:134142847(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.880_882delAAG |
| AA Mutation |
p.Lys294del(p.K294del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |