Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
20 | g.3083090G>A | CA408061705 | AVP | c.209C>T (p.Ala70Val) | dbSNP gnomAD v3 gnomAD v4 |
20 | g.3083090G>C | CA408061706 | AVP | c.209C>G (p.Ala70Gly) | |
20 | g.3083090G= | CA2346405572 | AVP | c.209C= (p.Ala70=) | |
20 | g.3083090G>T | CA408061707 | AVP | c.209C>A (p.Ala70Asp) | gnomAD v4 |
20 | g.3083091_3083093del | CA2695229216 | AVP | c.207_209del (p.Ala70del) | |
20 | g.3083091C>A | CA408061708 | AVP | c.208G>T (p.Ala70Ser) | gnomAD v4 |
20 | g.3083091C= | CA2346405573 | AVP | c.208G= (p.Ala70=) | |
20 | g.3083091C>G | CA408061709 | AVP | c.208G>C (p.Ala70Pro) | gnomAD v4 |
20 | g.3083091C>T | CA9739457 | AVP | c.208G>A (p.Ala70Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3083092C>A | CA509554714 | AVP | c.207G>T (p.Thr69=) | dbSNP gnomAD v4 |
20 | g.3083092C= | CA2346405574 | AVP | c.207G= (p.Thr69=) | |
20 | g.3083092C>G | CA9739458 | AVP | c.207G>C (p.Thr69=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
20 | g.3083092C>T | CA9739459 | AVP | c.207G>A (p.Thr69=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
20 | g.3083093G>A | CA408061710 | AVP | c.206C>T (p.Thr69Met) | gnomAD v4 |
20 | g.3083093G>C | CA408061711 | AVP | c.206C>G (p.Thr69Arg) | |
20 | g.3083093G>T | CA408061712 | AVP | c.206C>A (p.Thr69Lys) | gnomAD v4 |
20 | g.3083094T>A | CA408061713 | AVP | c.205A>T (p.Thr69Ser) | dbSNP gnomAD v4 |
20 | g.3083094T>C | CA408061714 | AVP | c.205A>G (p.Thr69Ala) | gnomAD v4 |
20 | g.3083094T>G | CA408061715 | AVP | c.205A>C (p.Thr69Pro) | |
20 | g.3083094T= | CA2346405575 | AVP | c.205A= (p.Thr69=) | |
20 | g.3083095G>A | CA509554715 | AVP | c.204C>T (p.Gly68=) | gnomAD v4 |
20 | g.3083095G>C | CA509554716 | AVP | c.204C>G (p.Gly68=) | |
20 | g.3083095G>T | CA509554717 | AVP | c.204C>A (p.Gly68=) | gnomAD v4 |
20 | g.3083096C>A | CA408061716 | AVP | c.203G>T (p.Gly68Val) | gnomAD v4 |
20 | g.3083096C>G | CA408061717 | AVP | c.203G>C (p.Gly68Ala) |