| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000221972 |
| Start |
41879100:41879100(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs374041941
|
| CDS Mutation |
c.190G>A |
| AA Mutation |
p.Val64Ile(p.V64I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000221972 |
| Start |
41879045:41879045(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.135C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000221972 |
| Start |
41879540:41879540(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.390delC |
| AA Mutation |
p.Arg131GlyfsTer61(p.R131Gfs*61) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |