| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369168 |
| Start |
149790126:149790126(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.632G>A |
| AA Mutation |
p.Ser211Asn(p.S211N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000369168 |
| Start |
149788534:149788534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.476A>G |
| AA Mutation |
p.Asn159Ser(p.N159S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000369168 |
| Start |
149791459:149791459(version: GRCh38) |
| Mutation Type |
DEL |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1071delA |
| AA Mutation |
p.Glu358LysfsTer58(p.E358Kfs*58) |
| Mutation Classification |
Frame_Shift_Del |
| Feature Type |
Transcript |