| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000379719 |
| Start |
9425214:9425214(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1287A>C |
| AA Mutation |
p.Lys429Asn(p.K429N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379719 |
| Start |
9414259:9414259(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.489delA |
| AA Mutation |
p.Lys163AsnfsTer9(p.K163Nfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000379719 |
| Start |
9440533:9440533(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2775delA |
| AA Mutation |
p.Asp926MetfsTer55(p.D926Mfs*55) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |