| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000378533 |
| Start |
38149737:38149737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs745712789
|
| CDS Mutation |
c.1369G>A |
| AA Mutation |
p.Glu457Lys(p.E457K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000378533 |
| Start |
38174192:38174192(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.317delA |
| AA Mutation |
p.Asn106ThrfsTer29(p.N106Tfs*29) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000378533 |
| Start |
38160931:38160931(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.775+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |