| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366577 |
| Start |
236810546:236810546(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.453G>T |
| AA Mutation |
p.Lys151Asn(p.K151N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000366577 |
| Start |
236891300:236891300(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3175A>G |
| AA Mutation |
p.Ile1059Val(p.I1059V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
splice_donor_variant |
| Transcription ID |
ENST00000366577 |
| Start |
236795739:236795739(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs776165231
|
| CDS Mutation |
c.34+2T>C |
| Mutation Classification |
Splice_Site |
| Feature Type |
Transcript |