| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000334270 |
| Start |
132401460:132401460(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs61741946
|
| CDS Mutation |
c.1362G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334270 |
| Start |
132402760:132402760(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.62delA |
| AA Mutation |
p.Lys21SerfsTer23(p.K21Sfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000334270 |
| Start |
132401985:132401986(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
rs746659855
|
| CDS Mutation |
c.836dupA |
| AA Mutation |
p.Lys280GlufsTer10(p.K280Efs*10) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |