| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290942 |
| Start |
67391104:67391104(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs760629455
|
| CDS Mutation |
c.8C>T |
| AA Mutation |
p.Ala3Val(p.A3V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000290942 |
| Start |
67390347:67390347(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.358G>A |
| AA Mutation |
p.Gly120Ser(p.G120S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000290942 |
| Start |
67390350:67390351(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs771633144
|
| CDS Mutation |
c.354_355delAG |
| AA Mutation |
p.Gly120CysfsTer21(p.G120Cfs*21) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |