| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259271 |
| Start |
26270665:26270665(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1001C>T |
| AA Mutation |
p.Ala334Val(p.A334V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259271 |
| Start |
26281017:26281017(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1166C>A |
| AA Mutation |
p.Ser389Tyr(p.S389Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000259271 |
| Start |
26300929:26300929(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1726G>A |
| AA Mutation |
p.Glu576Lys(p.E576K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |