| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293371 |
| Start |
54645182:54645182(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs755072961
|
| CDS Mutation |
c.280G>A |
| AA Mutation |
p.Val94Met(p.V94M) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000293371 |
| Start |
54648284:54648284(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs764041088
|
| CDS Mutation |
c.20T>C |
| AA Mutation |
p.Leu7Pro(p.L7P) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000293371 |
| Start |
54645226:54645226(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs758489970
|
| CDS Mutation |
c.236delG |
| AA Mutation |
p.Gly79AspfsTer5(p.G79Dfs*5) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |