| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312377 |
| Start |
49994220:49994220(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
null
|
| CDS Mutation |
c.1250C>T |
| AA Mutation |
p.Ala417Val(p.A417V) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312377 |
| Start |
49992291:49992291(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
rs758935582
|
| CDS Mutation |
c.1532A>G |
| AA Mutation |
p.Asn511Ser(p.N511S) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000312377 |
| Start |
49994242:49994242(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.1228A>T |
| AA Mutation |
p.Ser410Cys(p.S410C) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |