| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290438 |
| Start |
74072226:74072226(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1585G>A |
| AA Mutation |
p.Glu529Lys(p.E529K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290438 |
| Start |
74072277:74072277(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1534G>A |
| AA Mutation |
p.Glu512Lys(p.E512K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000290438 |
| Start |
74080676:74080677(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.143dupA |
| AA Mutation |
p.Lys49GlufsTer4(p.K49Efs*4) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |