| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369779 |
| Start |
110378933:110378933(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.950T>G |
| AA Mutation |
p.Ile317Ser(p.I317S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369779 |
| Start |
110377055:110377056(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1136_1137insAG |
| AA Mutation |
p.Asn380ValfsTer7(p.N380Vfs*7) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369779 |
| Start |
110377056:110377057(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1135_1136insT |
| AA Mutation |
p.Thr379IlefsTer2(p.T379Ifs*2) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |