| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000374809 |
| Start |
34709310:34709310(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.199A>G |
| AA Mutation |
p.Met67Val(p.M67V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374809 |
| Start |
34708782:34708782(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs778129070
|
| CDS Mutation |
c.48delC |
| AA Mutation |
p.Glu17LysfsTer50(p.E17Kfs*50) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000374809 |
| Start |
34709294:34709295(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.186dupC |
| AA Mutation |
p.Ala63ArgfsTer70(p.A63Rfs*70) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |