| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000332271 |
| Start |
24728377:24728377(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1732A>G |
| AA Mutation |
p.Lys578Glu(p.K578E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000332271 |
| Start |
24749415:24749415(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1323T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000332271 |
| Start |
24725012:24725013(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2132dupA |
| AA Mutation |
p.Asn711LysfsTer26(p.N711Kfs*26) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |