| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000352480 |
| Start |
130479737:130479737(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs565520844
|
| CDS Mutation |
c.710A>G |
| AA Mutation |
p.Asn237Ser(p.N237S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000352480 |
| Start |
130452292:130452292(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs762279472
|
| CDS Mutation |
c.64G>T |
| AA Mutation |
p.Val22Leu(p.V22L) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000352480 |
| Start |
130458530:130458530(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.304C>G |
| AA Mutation |
p.Gln102Glu(p.Q102E) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |