| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266718 |
| Start |
91108813:91108813(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.167T>A |
| AA Mutation |
p.Leu56Gln(p.L56Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266718 |
| Start |
91108340:91108340(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.640A>T |
| AA Mutation |
p.Asn214Tyr(p.N214Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
5 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000266718 |
| Start |
91108457:91108457(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.523G>T |
| AA Mutation |
p.Ala175Ser(p.A175S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |