| ID |
6 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000376734 |
| Start |
30105234:30105234(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.892C>T |
| AA Mutation |
p.Gln298Ter(p.Q298*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
7 |
| Mutation Consequence |
stop_gained |
| Transcription ID |
ENST00000376734 |
| Start |
30111722:30111722(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.439C>T |
| AA Mutation |
p.Gln147Ter(p.Q147*) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |
| ID |
8 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000376734 |
| Start |
30110446:30110447(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.744+1dupG |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |