| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000228280 |
| Start |
88545763:88545763(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.118G>T |
| AA Mutation |
p.Val40Phe(p.V40F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000228280 |
| Start |
88518721:88518721(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.339G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000228280 |
| Start |
88516479:88516479(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.375delA |
| AA Mutation |
p.Lys125AsnfsTer31(p.K125Nfs*31) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |