Gene >> DAP3
| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000343043 |
| Start |
155729117:155729117(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.679G>C |
| AA Mutation |
p.Glu227Gln(p.E227Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000343043 |
| Start |
155738208:155738209(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1165_1166dupTC |
| AA Mutation |
p.Leu390ArgfsTer32(p.L390Rfs*32) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |