| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000620048 |
| Start |
197541008:197541008(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1358delA |
| AA Mutation |
p.Asn453IlefsTer7(p.N453Ifs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000620048 |
| Start |
197540066:197540067(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1412dupA |
| AA Mutation |
p.Asn471LysfsTer2(p.N471Kfs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
10 |
| Mutation Consequence |
inframe_deletion |
| Transcription ID |
ENST00000620048 |
| Start |
197510531:197510533(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2255_2257delTAT |
| AA Mutation |
p.Leu752del(p.L752del) |
| Mutation Classification |
In_Frame_Del |
| Feature Type |
Transcript |