| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000251038 |
| Start |
88577991:88577991(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1130A>C |
| AA Mutation |
p.Gln377Pro(p.Q377P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000251038 |
| Start |
88568073:88568073(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.114G>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000251038 |
| Start |
88572735:88572735(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.594delA |
| AA Mutation |
p.Lys198AsnfsTer4(p.K198Nfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |