| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000333602 |
| Start |
195867203:195867203(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2948G>T |
| AA Mutation |
p.Gly983Val(p.G983V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000333602 |
| Start |
195867762:195867762(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2491delC |
| AA Mutation |
p.Gln831ArgfsTer2(p.Q831Rfs*2) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
start_lost |
| Transcription ID |
ENST00000333602 |
| Start |
195888588:195888588(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1A>G |
| AA Mutation |
p.Met1?(p.M1?) |
| Mutation Classification |
Translation_Start_Site |
| Feature Type |
Transcript |