| ID |
3 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000372979 |
| Start |
73146294:73146294(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1109C>G |
| AA Mutation |
p.Ser370Ter(p.S370*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000372979 |
| Start |
73154434:73154435(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.604dupA |
| AA Mutation |
p.Ile202AsnfsTer41(p.I202Nfs*41) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000372979 |
| Start |
73134814:73134814(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1705-1G>T |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |