| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377938 |
| Start |
68979943:68979943(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.388C>T |
| AA Mutation |
p.Pro130Ser(p.P130S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377938 |
| Start |
68977710:68977710(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.182A>C |
| AA Mutation |
p.Asn61Thr(p.N61T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377938 |
| Start |
68980740:68980740(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
rs759880395
|
| CDS Mutation |
c.523delT |
| AA Mutation |
p.Tyr175ThrfsTer38(p.Y175Tfs*38) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |