| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000377966 |
| Start |
36112355:36112355(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1939G>A |
| AA Mutation |
p.Gly647Arg(p.G647R) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377966 |
| Start |
36102116:36102116(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1326delA |
| AA Mutation |
p.Lys442AsnfsTer27(p.K442Nfs*27) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000377966 |
| Start |
36112464:36112464(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2054delA |
| AA Mutation |
p.Asn685ThrfsTer12(p.N685Tfs*12) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |