| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356493 |
| Start |
35101438:35101439(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.566_567delCT |
| AA Mutation |
p.Ser189TyrfsTer19(p.S189Yfs*19) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000356493 |
| Start |
35102752:35102753(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.116_117insA |
| AA Mutation |
p.Phe40ValfsTer49(p.F40Vfs*49) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
inframe_insertion |
| Transcription ID |
ENST00000356493 |
| Start |
35102752:35102753(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.114_116dupACT |
| AA Mutation |
p.Leu39dup(p.L39dup) |
| Mutation Classification |
In_Frame_Ins |
| Feature Type |
Transcript |