| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000359651 |
| Start |
202013242:202013242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.749C>G |
| AA Mutation |
p.Pro250Arg(p.P250R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359651 |
| Start |
202013256:202013257(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.764_765delAA |
| AA Mutation |
p.Lys255ArgfsTer45(p.K255Rfs*45) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000359651 |
| Start |
202011972:202011973(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.184dupG |
| AA Mutation |
p.Glu62GlyfsTer30(p.E62Gfs*30) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |