| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142555898:142555899(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2319_2320delAA |
| AA Mutation |
p.Lys773AsnfsTer3(p.K773Nfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000350721 |
| Start |
142499645:142499645(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.5362G>T |
| AA Mutation |
p.Glu1788Ter(p.E1788*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
9 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000350721 |
| Start |
142547740:142547741(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3341dupT |
| AA Mutation |
p.Ser1115IlefsTer3(p.S1115Ifs*3) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |