| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000013125 |
| Start |
50448776:50448776(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1072A>G |
| AA Mutation |
p.Met358Val(p.M358V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000013125 |
| Start |
50445062:50445062(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1318G>T |
| AA Mutation |
p.Val440Leu(p.V440L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000013125 |
| Start |
50437949:50437950(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1767dupA |
| AA Mutation |
p.Pro590ThrfsTer29(p.P590Tfs*29) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |