| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397128 |
| Start |
40764811:40764811(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1249C>G |
| AA Mutation |
p.Pro417Ala(p.P417A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397128 |
| Start |
40777535:40777535(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs780617578
|
| CDS Mutation |
c.179G>A |
| AA Mutation |
p.Arg60Gln(p.R60Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
4 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000397128 |
| Start |
40762830:40762830(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1628C>A |
| AA Mutation |
p.Thr543Lys(p.T543K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |