Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
20 | g.3083074G>A | CA509554693 | AVP | c.225C>T (p.Cys75=) | gnomAD v4 |
20 | g.3083074G>C | CA408061672 | AVP | c.225C>G (p.Cys75Trp) | |
20 | g.3083074G>T | CA408061673 | AVP | c.225C>A (p.Cys75Ter) | gnomAD v4 |
20 | g.3083075C>A | CA408061674 | AVP | c.224G>T (p.Cys75Phe) | gnomAD v4 |
20 | g.3083075C>G | CA408061676 | AVP | c.224G>C (p.Cys75Ser) | |
20 | g.3083075C>T | CA408061675 | AVP | c.224G>A (p.Cys75Tyr) | gnomAD v4 |
20 | g.3083076A>C | CA408061677 | AVP | c.223T>G (p.Cys75Gly) | |
20 | g.3083076A>G | CA408061679 | AVP | c.223T>C (p.Cys75Arg) | gnomAD v4 |
20 | g.3083076A>T | CA408061678 | AVP | c.223T>A (p.Cys75Ser) | |
20 | g.3083077G>A | CA9739456 | AVP | c.222C>T (p.Arg74=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3083077G>C | CA509554696 | AVP | c.222C>G (p.Arg74=) | |
20 | g.3083077G= | CA2346405570 | AVP | c.222C= (p.Arg74=) | |
20 | g.3083077G>T | CA509554695 | AVP | c.222C>A (p.Arg74=) | |
20 | g.3083078C>A | CA408061681 | AVP | c.221G>T (p.Arg74Leu) | gnomAD v4 |
20 | g.3083078C>G | CA408061680 | AVP | c.221G>C (p.Arg74Pro) | |
20 | g.3083078C>T | CA408061682 | AVP | c.221G>A (p.Arg74His) | gnomAD v4 COSMIC |
20 | g.3083079G>A | CA408061683 | AVP | c.220C>T (p.Arg74Cys) | gnomAD v4 |
20 | g.3083079G>C | CA408061685 | AVP | c.220C>G (p.Arg74Gly) | |
20 | g.3083079G>T | CA408061684 | AVP | c.220C>A (p.Arg74Ser) | gnomAD v4 |
20 | g.3083080C>A | CA509554698 | AVP | c.219G>T (p.Leu73=) | gnomAD v4 |
20 | g.3083080C>G | CA509554699 | AVP | c.219G>C (p.Leu73=) | |
20 | g.3083080C>T | CA509554700 | AVP | c.219G>A (p.Leu73=) | gnomAD v4 |
20 | g.3083081A>C | CA408061686 | AVP | c.218T>G (p.Leu73Arg) | gnomAD v4 |
20 | g.3083081A>G | CA408061687 | AVP | c.218T>C (p.Leu73Pro) | ClinVar gnomAD v4 |
20 | g.3083081A>T | CA408061688 | AVP | c.218T>A (p.Leu73Gln) | |
20 | g.3083082G>A | CA509554703 | AVP | c.217C>T (p.Leu73=) | gnomAD v4 |
20 | g.3083082G>C | CA408061689 | AVP | c.217C>G (p.Leu73Val) | |
20 | g.3083082G>T | CA408061690 | AVP | c.217C>A (p.Leu73Met) | gnomAD v4 |
20 | g.3083083C>A | CA509554704 | AVP | c.216G>T (p.Ala72=) | gnomAD v4 |
20 | g.3083083C>G | CA509554705 | AVP | c.216G>C (p.Ala72=) | |
20 | g.3083083C>T | CA509554706 | AVP | c.216G>A (p.Ala72=) | gnomAD v4 |
20 | g.3083084G>A | CA408061691 | AVP | c.215C>T (p.Ala72Val) | gnomAD v4 |
20 | g.3083084G>C | CA408061692 | AVP | c.215C>G (p.Ala72Gly) | dbSNP |
20 | g.3083084G= | CA2346405571 | AVP | c.215C= (p.Ala72=) | |
20 | g.3083084G>T | CA408061693 | AVP | c.215C>A (p.Ala72Glu) | gnomAD v4 |
20 | g.3083085C>A | CA408061694 | AVP | c.214G>T (p.Ala72Ser) | gnomAD v4 |
20 | g.3083085C>G | CA408061695 | AVP | c.214G>C (p.Ala72Pro) | |
20 | g.3083085C>T | CA408061696 | AVP | c.214G>A (p.Ala72Thr) | gnomAD v4 |
20 | g.3083086C>A | CA408061698 | AVP | c.213G>T (p.Glu71Asp) | gnomAD v4 |
20 | g.3083086C>G | CA408061697 | AVP | c.213G>C (p.Glu71Asp) | |
20 | g.3083086C>T | CA509554710 | AVP | c.213G>A (p.Glu71=) | gnomAD v4 |
20 | g.3083087T>A | CA408061699 | AVP | c.212A>T (p.Glu71Val) | |
20 | g.3083087T>C | CA408061700 | AVP | c.212A>G (p.Glu71Gly) | gnomAD v4 |
20 | g.3083087T>G | CA408061701 | AVP | c.212A>C (p.Glu71Ala) | |
20 | g.3083088C>A | CA408061702 | AVP | c.211G>T (p.Glu71Ter) | gnomAD v4 |
20 | g.3083088C>G | CA408061703 | AVP | c.211G>C (p.Glu71Gln) | |
20 | g.3083088C>T | CA408061704 | AVP | c.211G>A (p.Glu71Lys) | gnomAD v4 |
20 | g.3083089A>C | CA509554711 | AVP | c.210T>G (p.Ala70=) | |
20 | g.3083089A>G | CA509554712 | AVP | c.210T>C (p.Ala70=) | gnomAD v4 |
20 | g.3083089A>T | CA509554713 | AVP | c.210T>A (p.Ala70=) | gnomAD v4 |