| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000452135 |
| Start |
180280453:180280453(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.109C>G |
| AA Mutation |
p.Gln37Glu(p.Q37E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000452135 |
| Start |
180269379:180269380(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.152_153delAT |
| AA Mutation |
p.Asn51SerfsTer22(p.N51Sfs*22) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000452135 |
| Start |
180239988:180239988(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.997-1G>A |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |