| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377115 |
| Start |
22582992:22582992(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.232G>T |
| AA Mutation |
p.Ala78Ser(p.A78S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000377115 |
| Start |
22584230:22584230(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.31G>T |
| AA Mutation |
p.Glu11Ter(p.E11*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377115 |
| Start |
22582035:22582036(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1188_1189insG |
| AA Mutation |
p.Pro397AlafsTer81(p.P397Afs*81) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |