| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000326873 |
| Start |
1219353:1219359(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.405_411delCATGCAG |
| AA Mutation |
p.Met136LysfsTer23(p.M136Kfs*23) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000326873 |
| Start |
1221261:1221261(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.783C>G |
| AA Mutation |
p.Tyr261Ter(p.Y261*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
6 |
| Mutation Consequence |
splice_acceptor_variant |
| Transcription ID |
ENST00000326873 |
| Start |
1219323:1219323(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.375-1C>G |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |