| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361492 |
| Start |
120989318:120989318(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs140601980
|
| CDS Mutation |
c.3404C>G |
| AA Mutation |
p.Ser1135Cys(p.S1135C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000361492 |
| Start |
120797451:120797451(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs200095340
|
| CDS Mutation |
c.131C>T |
| AA Mutation |
p.Ala44Val(p.A44V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000361492 |
| Start |
120951338:120951338(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.355delC |
| AA Mutation |
p.His119ThrfsTer4(p.H119Tfs*4) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |