| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311922 |
| Start |
125431216:125431216(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.314T>C |
| AA Mutation |
p.Val105Ala(p.V105A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000311922 |
| Start |
125433387:125433387(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.431C>G |
| AA Mutation |
p.Thr144Ser(p.T144S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000311922 |
| Start |
125436468:125436469(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1116_1117delCT |
| AA Mutation |
p.Cys372Ter(p.C372*) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |