| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320741 |
| Start |
186854545:186854545(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.576T>A |
| AA Mutation |
p.Asn192Lys(p.N192K) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320741 |
| Start |
186853198:186853198(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs372597136
|
| CDS Mutation |
c.140C>T |
| AA Mutation |
p.Pro47Leu(p.P47L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000320741 |
| Start |
186854490:186854490(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.521G>A |
| AA Mutation |
p.Ser174Asn(p.S174N) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |