| ID |
1 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000353479 |
| Start |
104043516:104043516(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.2500C>G |
| AA Mutation |
p.Pro834Ala(p.P834A) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
2 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000353479 |
| Start |
104036534:104036534(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.3376G>T |
| AA Mutation |
p.Asp1126Tyr(p.D1126Y) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |
| ID |
3 |
| Mutation Consequence |
missense_variant |
| Transcription ID |
ENST00000353479 |
| Start |
104032730:104032730(version: GRCh38) |
| Mutation Type |
SNP |
| dbSNP_RS |
novel
|
| CDS Mutation |
c.4382C>A |
| AA Mutation |
p.Pro1461Gln(p.P1461Q) |
| Mutation Classification |
Missense_Mutation |
| Feature Type |
Transcript |