| ID |
11 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394634 |
| Start |
109766771:109766771(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.111delA |
| AA Mutation |
p.Lys37AsnfsTer65(p.K37Nfs*65) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
12 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394634 |
| Start |
109746325:109746325(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1326delA |
| AA Mutation |
p.Asp443IlefsTer49(p.D443Ifs*49) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000394634 |
| Start |
109749510:109749510(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1033C>T |
| AA Mutation |
p.Arg345Ter(p.R345*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |