| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335867 |
| Start |
58645923:58645923(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1300C>A |
| AA Mutation |
p.Pro434Thr(p.P434T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000335867 |
| Start |
58646775:58646775(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs147227144
|
| CDS Mutation |
c.2152G>A |
| AA Mutation |
p.Ala718Thr(p.A718T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000335867 |
| Start |
58645922:58645922(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1299delG |
| AA Mutation |
p.Leu435CysfsTer72(p.L435Cfs*72) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |