| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000450114 |
| Start |
9585491:9585491(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1434C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000450114 |
| Start |
9581630:9581630(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1241delT |
| AA Mutation |
p.Leu414Ter(p.L414*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000450114 |
| Start |
9586852:9586853(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1787dupA |
| AA Mutation |
p.Glu597ArgfsTer13(p.E597Rfs*13) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |