| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367967 |
| Start |
161548559:161548559(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.181T>G |
| AA Mutation |
p.Phe61Val(p.F61V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000367967 |
| Start |
161548573:161548573(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.167A>C |
| AA Mutation |
p.Asn56Thr(p.N56T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000367967 |
| Start |
161544739:161544739(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.539delA |
| AA Mutation |
p.Asn180MetfsTer7(p.N180Mfs*7) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |