| ID |
4 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000290167 |
| Start |
22121479:22121479(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.411C>T |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000290167 |
| Start |
22121348:22121348(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.451C>T |
| AA Mutation |
p.Gln151Ter(p.Q151*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000290167 |
| Start |
22120474:22120475(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.631dupG |
| AA Mutation |
p.Val211GlyfsTer6(p.V211Gfs*6) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |