| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000229329 |
| Start |
22060837:22060837(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.703delA |
| AA Mutation |
p.Met235TrpfsTer14(p.M235Wfs*14) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000229329 |
| Start |
22055586:22055586(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.535C>T |
| AA Mutation |
p.Arg179Ter(p.R179*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000229329 |
| Start |
22055235:22055236(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.351dupA |
| AA Mutation |
p.Asp118ArgfsTer14(p.D118Rfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |