| ID |
12 |
| Mutation Consequence |
stop_gained;inframe_insertion |
| Transcription ID |
ENST00000262518 |
| Start |
30738407:30738408(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.8367_8368insTAGCAGAAGCCAGCATCCACCTCATCCAGG |
| AA Mutation |
p.Gly2789_Ser2790insTer(p.G2789_S2790ins*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
13 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000262518 |
| Start |
30713217:30713217(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.2140A>T |
| AA Mutation |
p.Lys714Ter(p.K714*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |