| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000262290 |
| Start |
58264815:58264815(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1360C>T |
| AA Mutation |
p.Pro454Ser(p.P454S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000262290 |
| Start |
58266214:58266214(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1581delT |
| AA Mutation |
p.Asn527LysfsTer3(p.N527Kfs*3) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000262290 |
| Start |
58254810:58254810(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1106-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |