| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394468 |
| Start |
93219120:93219120(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.411G>T |
| AA Mutation |
p.Lys137Asn(p.K137N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000394468 |
| Start |
93208677:93208677(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.915A>T |
| AA Mutation |
p.Lys305Asn(p.K305N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000394468 |
| Start |
93197501:93197501(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1122delA |
| AA Mutation |
p.Lys374AsnfsTer8(p.K374Nfs*8) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |