| ID |
1 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000226355 |
| Start |
73491997:73491997(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.969A>G |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000226355 |
| Start |
73499145:73499145(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1321C>T |
| AA Mutation |
p.Gln441Ter(p.Q441*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000226355 |
| Start |
73495360:73495361(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1120_1121insAG |
| AA Mutation |
p.Val374GlufsTer9(p.V374Efs*9) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |