| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54273622:54273622(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs149031291
|
| CDS Mutation |
c.1450G>A |
| AA Mutation |
p.Val484Met(p.V484M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54267356:54267356(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs142492533
|
| CDS Mutation |
c.827C>T |
| AA Mutation |
p.Thr276Met(p.T276M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000257290 |
| Start |
54272416:54272417(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1261_1265dupGTCGA |
| AA Mutation |
p.Asp422GlufsTer14(p.D422Efs*14) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |