| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000234071 |
| Start |
127428698:127428698(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1138A>G |
| AA Mutation |
p.Met380Val(p.M380V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000234071 |
| Start |
127426152:127426152(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.603A>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000234071 |
| Start |
127428767:127428767(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1212delG |
| AA Mutation |
p.Met406TrpfsTer15(p.M406Wfs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |