| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000247829 |
| Start |
71138190:71138190(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs746311736
|
| CDS Mutation |
c.302C>T |
| AA Mutation |
p.Ala101Val(p.A101V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000247829 |
| Start |
71129377:71129377(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.614delA |
| AA Mutation |
p.Asn205IlefsTer2(p.N205Ifs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000247829 |
| Start |
71137988:71137989(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.408dupA |
| AA Mutation |
p.Gln137ThrfsTer14(p.Q137Tfs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |