| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000309268 |
| Start |
73519471:73519486(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.175_190delGTCTTGGATAAACTGA |
| AA Mutation |
p.Val59LysfsTer24(p.V59Kfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000309268 |
| Start |
73519895:73519897(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.130_132delAAG |
| AA Mutation |
p.Lys44del(p.K44del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |