| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000355758 |
| Start |
11779183:11779183(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.289G>A |
| AA Mutation |
p.Ala97Thr(p.A97T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000355758 |
| Start |
11761993:11761993(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2130T>C |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000355758 |
| Start |
11761992:11761992(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2131delG |
| AA Mutation |
p.Val711CysfsTer6(p.V711Cfs*6) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |