| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000301420 |
| Start |
50819285:50819285(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.698T>A |
| AA Mutation |
p.Val233Asp(p.V233D) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000301420 |
| Start |
50819971:50819971(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.561delA |
| AA Mutation |
p.Ala188ProfsTer6(p.A188Pfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000301420 |
| Start |
50819310:50819310(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.673C>T |
| AA Mutation |
p.Gln225Ter(p.Q225*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |