| ID |
1 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000262888 |
| Start |
43767707:43767707(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1120A>G |
| AA Mutation |
p.Met374Val(p.M374V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262888 |
| Start |
43774433:43774433(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.442G>C |
| AA Mutation |
p.Gly148Arg(p.G148R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262888 |
| Start |
43769449:43769449(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1042delA |
| AA Mutation |
p.Ile348SerfsTer9(p.I348Sfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |