| ID |
2 |
| Mutation Consequence |
missense_variant;splice_region_variant |
| Transcription ID |
ENST00000262948 |
| Start |
4110511:4110511(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.448A>T |
| AA Mutation |
p.Met150Leu(p.M150L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
synonymous_variant |
| Transcription ID |
ENST00000262948 |
| Start |
4097297:4097297(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.966G>A |
| Mutation Classification |
Silent |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
stop_gained;frameshift_variant |
| Transcription ID |
ENST00000262948 |
| Start |
4097281:4097282(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.974_981dupTTGTGAAC |
| AA Mutation |
p.Glu328LeufsTer2(p.E328Lfs*2) |
| Mutation Classification |
Nonsense_Mutation |
| Feature Type |
Transcript |