Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.3082970_3083024del | CA2651674822 | AVP | c.280_322+12del | gnomAD v4 |
20 | g.3082999G>A | CA509554636 | AVP | c.300C>T (p.Ala100=) | dbSNP gnomAD v4 |
20 | g.3082999G>C | CA509554637 | AVP | c.300C>G (p.Ala100=) | dbSNP gnomAD v4 |
20 | g.3082999G= | CA2346405528 | AVP | c.300C= (p.Ala100=) | |
20 | g.3082999G>T | CA509554638 | AVP | c.300C>A (p.Ala100=) | gnomAD v4 |
20 | g.3083000G>A | CA408061518 | AVP | c.299C>T (p.Ala100Val) | gnomAD v4 |
20 | g.3083000G>C | CA408061517 | AVP | c.299C>G (p.Ala100Gly) | |
20 | g.3083000G>T | CA408061516 | AVP | c.299C>A (p.Ala100Asp) | gnomAD v4 |
20 | g.3083001C>A | CA408061519 | AVP | c.298G>T (p.Ala100Ser) | gnomAD v4 |
20 | g.3083001C= | CA2346405529 | AVP | c.298G= (p.Ala100=) | |
20 | g.3083001C>G | CA408061520 | AVP | c.298G>C (p.Ala100Pro) | |
20 | g.3083001C>T | CA408061521 | AVP | c.298G>A (p.Ala100Thr) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083002G>A | CA509554640 | AVP | c.297C>T (p.Ala99=) | dbSNP gnomAD v4 |
20 | g.3083002G>C | CA509554641 | AVP | c.297C>G (p.Ala99=) | |
20 | g.3083002G= | CA2346405530 | AVP | c.297C= (p.Ala99=) | |
20 | g.3083002G>T | CA509554642 | AVP | c.297C>A (p.Ala99=) | gnomAD v4 |
20 | g.3083003G>A | CA408061522 | AVP | c.296C>T (p.Ala99Val) | gnomAD v4 |
20 | g.3083003G>C | CA408061523 | AVP | c.296C>G (p.Ala99Gly) | |
20 | g.3083003G>T | CA408061524 | AVP | c.296C>A (p.Ala99Asp) | |
20 | g.3083004C>A | CA408061525 | AVP | c.295G>T (p.Ala99Ser) | gnomAD v4 |
20 | g.3083004C= | CA2346405531 | AVP | c.295G= (p.Ala99=) | |
20 | g.3083004C>G | CA408061527 | AVP | c.295G>C (p.Ala99Pro) | |
20 | g.3083004C>T | CA408061526 | AVP | c.295G>A (p.Ala99Thr) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083005G>A | CA9739443 | AVP | c.294C>T (p.Cys98=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083005G>C | CA408061528 | AVP | c.294C>G (p.Cys98Trp) | |
20 | g.3083005G= | CA2346405532 | AVP | c.294C= (p.Cys98=) | |
20 | g.3083005G>T | CA121952 | AVP | c.294C>A (p.Cys98Ter) | ClinVar dbSNP gnomAD v4 |
20 | g.3083005_3083006delinsAG | CA2695229215 | AVP | c.293_294delinsCT (p.Cys98Ser) | |
20 | g.3083006C>A | CA408061529 | AVP | c.293G>T (p.Cys98Phe) | gnomAD v4 |
20 | g.3083006C>G | CA408061530 | AVP | c.293G>C (p.Cys98Ser) | |
20 | g.3083006C>T | CA408061531 | AVP | c.293G>A (p.Cys98Tyr) | gnomAD v4 |
20 | g.3083007A>C | CA408061532 | AVP | c.292T>G (p.Cys98Gly) | |
20 | g.3083007A>G | CA408061533 | AVP | c.292T>C (p.Cys98Arg) | gnomAD v4 |
20 | g.3083007A>T | CA408061534 | AVP | c.292T>A (p.Cys98Ser) | |
20 | g.3083008G>A | CA509554646 | AVP | c.291C>T (p.Arg97=) | gnomAD v4 |
20 | g.3083008G>C | CA509554647 | AVP | c.291C>G (p.Arg97=) | dbSNP gnomAD v4 |
20 | g.3083008G= | CA2346405533 | AVP | c.291C= (p.Arg97=) | |
20 | g.3083008G>T | CA509554648 | AVP | c.291C>A (p.Arg97=) | gnomAD v4 |
20 | g.3083009C>A | CA408061535 | AVP | c.290G>T (p.Arg97Leu) | gnomAD v4 |
20 | g.3083009C>G | CA408061536 | AVP | c.290G>C (p.Arg97Pro) | |
20 | g.3083009C>T | CA408061537 | AVP | c.290G>A (p.Arg97His) | gnomAD v4 |
20 | g.3083010G>A | CA408061538 | AVP | c.289C>T (p.Arg97Cys) | gnomAD v4 |
20 | g.3083010G>C | CA408061540 | AVP | c.289C>G (p.Arg97Gly) | |
20 | g.3083010G>T | CA408061539 | AVP | c.289C>A (p.Arg97Ser) | gnomAD v4 |
20 | g.3083011G>A | CA509554652 | AVP | c.288C>T (p.Gly96=) | dbSNP gnomAD v2 gnomAD v4 |
20 | g.3083011G>C | CA509554653 | AVP | c.288C>G (p.Gly96=) | |
20 | g.3083011G= | CA2346405534 | AVP | c.288C= (p.Gly96=) | |
20 | g.3083011G>T | CA509554654 | AVP | c.288C>A (p.Gly96=) | |
20 | g.3083012C>A | CA121957 | AVP | c.287G>T (p.Gly96Val) | ClinVar dbSNP gnomAD v4 |
20 | g.3083012C= | CA2346405535 | AVP | c.287G= (p.Gly96=) |