| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000292303 |
| Start |
46373099:46373099(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.197A>G |
| AA Mutation |
p.Asp66Gly(p.D66G) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000292303 |
| Start |
46373871:46373871(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.969C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000292303 |
| Start |
46372964:46372964(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.67delA |
| AA Mutation |
p.Ile23SerfsTer3(p.I23Sfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |