| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294785 |
| Start |
160351238:160351238(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.599A>G |
| AA Mutation |
p.Asn200Ser(p.N200S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000294785 |
| Start |
160355735:160355735(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1433A>T |
| AA Mutation |
p.Asn478Ile(p.N478I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000294785 |
| Start |
160344813:160344816(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.178_181delATTG |
| AA Mutation |
p.Ile60AlafsTer15(p.I60Afs*15) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |