| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000445192 |
| Start |
186308486:186308486(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2767G>A |
| AA Mutation |
p.Asp923Asn(p.D923N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000445192 |
| Start |
186312304:186312304(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3923T>A |
| AA Mutation |
p.Ile1308Lys(p.I1308K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000445192 |
| Start |
186300172:186300172(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.158A>C |
| AA Mutation |
p.Tyr53Ser(p.Y53S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |