| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295897 |
| Start |
73410346:73410346(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.650C>T |
| AA Mutation |
p.Ser217Phe(p.S217F) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295897 |
| Start |
73413495:73413495(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.919delC |
| AA Mutation |
p.Leu307CysfsTer23(p.L307Cfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295897 |
| Start |
73408786:73408790(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.465_469delAGAGA |
| AA Mutation |
p.Glu155AspfsTer9(p.E155Dfs*9) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |