| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267868 |
| Start |
40728806:40728806(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.626C>T |
| AA Mutation |
p.Ala209Val(p.A209V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267868 |
| Start |
40718878:40718878(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.509G>A |
| AA Mutation |
p.Arg170Gln(p.R170Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000267868 |
| Start |
40731104:40731104(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.946G>A |
| AA Mutation |
p.Asp316Asn(p.D316N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |