| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342505 |
| Start |
64883384:64883384(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.98A>T |
| AA Mutation |
p.Glu33Val(p.E33V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000342505 |
| Start |
64867048:64867048(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.808T>C |
| AA Mutation |
p.Tyr270His(p.Y270H) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000342505 |
| Start |
64841314:64841314(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2580delA |
| AA Mutation |
p.Lys860AsnfsTer16(p.K860Nfs*16) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |