| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295598 |
| Start |
116390403:116390403(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1214A>C |
| AA Mutation |
p.Asn405Thr(p.N405T) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000295598 |
| Start |
116389702:116389702(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1018G>A |
| AA Mutation |
p.Val340Ile(p.V340I) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
frameshift_variant |
| Transcription ID |
ENST00000295598 |
| Start |
116392891:116392892(version: GRCh38) |
| Mutation Type |
INS |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1373dupA |
| AA Mutation |
p.Cys459ValfsTer36(p.C459Vfs*36) |
| Mutation Classification |
Frame_Shift_Ins |
| Feature Type |
Transcript |