| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304567 |
| Start |
10128899:10128899(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.850C>G |
| AA Mutation |
p.Pro284Ala(p.P284A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000304567 |
| Start |
10129089:10129089(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.952A>G |
| AA Mutation |
p.Thr318Ala(p.T318A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000304567 |
| Start |
10127123:10127124(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.703_704delTT |
| AA Mutation |
p.Phe235LeufsTer24(p.F235Lfs*24) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |