| ID |
6 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000321233 |
| Start |
32369722:32369722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1400T>C |
| AA Mutation |
p.Met467Thr(p.M467T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000321233 |
| Start |
32360604:32360604(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.320delA |
| AA Mutation |
p.Lys107ArgfsTer57(p.K107Rfs*57) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000321233 |
| Start |
32360696:32360696(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.406C>T |
| AA Mutation |
p.Gln136Ter(p.Q136*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |