| ID |
7 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000389266 |
| Start |
30609723:30609724(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.874_875insAGGCATAAGATATAAAGTAT |
| AA Mutation |
p.Met292LysfsTer3(p.M292Kfs*3) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
stop_lost |
| Transcription ID |
ENST00000389266 |
| Start |
30633860:30633860(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2220A>C |
| AA Mutation |
p.Ter740CysextTer4(p.*740Cext*4) |
| Mutation Classification |
Nonstop_Mutation |
| Feature Type |
Transcript |