Chr Mutation (hg38) CAid Gene Transcript Linkouts
16g.56894458_56894459delinsCGCA2224361173SLC12A3c.2522-73_2522-72delinsCG (n.2522-73_2522-72delinsCG)
c.2519-73_2519-72delinsCG (n.2519-73_2519-72delinsCG)
c.2549-73_2549-72delinsCG (n.2549-73_2549-72delinsCG)
c.2546-73_2546-72delinsCG (n.2546-73_2546-72delinsCG)
16g.56894459G>ACA622340455SLC12A3c.2522-72G>A (n.2522-72G>A)
c.2519-72G>A (n.2519-72G>A)
c.2549-72G>A (n.2549-72G>A)
c.2546-72G>A (n.2546-72G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56894459G>CCA2633374344SLC12A3c.2522-72G>C (n.2522-72G>C)
c.2519-72G>C (n.2519-72G>C)
c.2549-72G>C (n.2549-72G>C)
c.2546-72G>C (n.2546-72G>C)
 gnomAD v4
16g.56894459G=CA2224361174SLC12A3c.2522-72G= (n.2522-72G=)
c.2519-72G= (n.2519-72G=)
c.2549-72G= (n.2549-72G=)
c.2546-72G= (n.2546-72G=)
16g.56894459G>TCA2633374345SLC12A3c.2522-72G>T (n.2522-72G>T)
c.2519-72G>T (n.2519-72G>T)
c.2549-72G>T (n.2549-72G>T)
c.2546-72G>T (n.2546-72G>T)
 gnomAD v4
16g.56894462delCA721944107SLC12A3c.2522-69del (n.2522-69del)
c.2519-69del (n.2519-69del)
c.2549-69del (n.2549-69del)
c.2546-69del (n.2546-69del)
 dbSNP gnomAD v3 gnomAD v4
16g.56894460G>ACA2576002265SLC12A3c.2522-71G>A (n.2522-71G>A)
c.2519-71G>A (n.2519-71G>A)
c.2549-71G>A (n.2549-71G>A)
c.2546-71G>A (n.2546-71G>A)
 gnomAD v4
16g.56894462G>ACA2576002266SLC12A3c.2522-69G>A (n.2522-69G>A)
c.2519-69G>A (n.2519-69G>A)
c.2549-69G>A (n.2549-69G>A)
c.2546-69G>A (n.2546-69G>A)
 gnomAD v4
16g.56894462G>TCA2633374348SLC12A3c.2522-69G>T (n.2522-69G>T)
c.2519-69G>T (n.2519-69G>T)
c.2549-69G>T (n.2549-69G>T)
c.2546-69G>T (n.2546-69G>T)
 gnomAD v4
16g.56894463C>ACA2576002267SLC12A3c.2522-68C>A (n.2522-68C>A)
c.2519-68C>A (n.2519-68C>A)
c.2549-68C>A (n.2549-68C>A)
c.2546-68C>A (n.2546-68C>A)
 gnomAD v4
16g.56894464A=CA2224361175SLC12A3c.2522-67A= (n.2522-67A=)
c.2519-67A= (n.2519-67A=)
c.2549-67A= (n.2549-67A=)
c.2546-67A= (n.2546-67A=)
16g.56894464A>GCA721944109SLC12A3c.2522-67A>G (n.2522-67A>G)
c.2519-67A>G (n.2519-67A>G)
c.2549-67A>G (n.2549-67A>G)
c.2546-67A>G (n.2546-67A>G)
 dbSNP gnomAD v4
16g.56894465G>ACA2576002268SLC12A3c.2522-66G>A (n.2522-66G>A)
c.2519-66G>A (n.2519-66G>A)
c.2549-66G>A (n.2549-66G>A)
c.2546-66G>A (n.2546-66G>A)
16g.56894465G>TCA2633374349SLC12A3c.2522-66G>T (n.2522-66G>T)
c.2519-66G>T (n.2519-66G>T)
c.2549-66G>T (n.2549-66G>T)
c.2546-66G>T (n.2546-66G>T)
 gnomAD v4
16g.56894466delCA2732474649SLC12A3c.2522-65del (n.2522-65del)
c.2519-65del (n.2519-65del)
c.2549-65del (n.2549-65del)
c.2546-65del (n.2546-65del)
 dbSNP
16g.56894466G>ACA2807154313SLC12A3c.2522-65G>A (n.2522-65G>A)
c.2519-65G>A (n.2519-65G>A)
c.2549-65G>A (n.2549-65G>A)
c.2546-65G>A (n.2546-65G>A)
16g.56894467A>GCA2633374350SLC12A3c.2522-64A>G (n.2522-64A>G)
c.2519-64A>G (n.2519-64A>G)
c.2549-64A>G (n.2549-64A>G)
c.2546-64A>G (n.2546-64A>G)
 gnomAD v4
16g.56894468A>CCA2576002269SLC12A3c.2522-63A>C (n.2522-63A>C)
c.2519-63A>C (n.2519-63A>C)
c.2549-63A>C (n.2549-63A>C)
c.2546-63A>C (n.2546-63A>C)
16g.56894468A>GCA2576002270SLC12A3c.2522-63A>G (n.2522-63A>G)
c.2519-63A>G (n.2519-63A>G)
c.2549-63A>G (n.2549-63A>G)
c.2546-63A>G (n.2546-63A>G)
 gnomAD v4
16g.56894468A>TCA2633374352SLC12A3c.2522-63A>T (n.2522-63A>T)
c.2519-63A>T (n.2519-63A>T)
c.2549-63A>T (n.2549-63A>T)
c.2546-63A>T (n.2546-63A>T)
 gnomAD v4
16g.56894469C>GCA2633374354SLC12A3c.2522-62C>G (n.2522-62C>G)
c.2519-62C>G (n.2519-62C>G)
c.2549-62C>G (n.2549-62C>G)
c.2546-62C>G (n.2546-62C>G)
 gnomAD v4
16g.56894469C>TCA2633374356SLC12A3c.2522-62C>T (n.2522-62C>T)
c.2519-62C>T (n.2519-62C>T)
c.2549-62C>T (n.2549-62C>T)
c.2546-62C>T (n.2546-62C>T)
 gnomAD v4
16g.56894472A=CA2224361176SLC12A3c.2522-59A= (n.2522-59A=)
c.2519-59A= (n.2519-59A=)
c.2549-59A= (n.2549-59A=)
c.2546-59A= (n.2546-59A=)
16g.56894472A>CCA2224361177SLC12A3c.2522-59A>C (n.2522-59A>C)
c.2519-59A>C (n.2519-59A>C)
c.2549-59A>C (n.2549-59A>C)
c.2546-59A>C (n.2546-59A>C)
 dbSNP
16g.56894473C>ACA2633374358SLC12A3c.2522-58C>A (n.2522-58C>A)
c.2519-58C>A (n.2519-58C>A)
c.2549-58C>A (n.2549-58C>A)
c.2546-58C>A (n.2546-58C>A)
 gnomAD v4
16g.56894474A>GCA2576002271SLC12A3c.2522-57A>G (n.2522-57A>G)
c.2519-57A>G (n.2519-57A>G)
c.2549-57A>G (n.2549-57A>G)
c.2546-57A>G (n.2546-57A>G)
16g.56894475T>CCA281514196SLC12A3c.2522-56T>C (n.2522-56T>C)
c.2519-56T>C (n.2519-56T>C)
c.2549-56T>C (n.2549-56T>C)
c.2546-56T>C (n.2546-56T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56894475T=CA2224361178SLC12A3c.2522-56T= (n.2522-56T=)
c.2519-56T= (n.2519-56T=)
c.2549-56T= (n.2549-56T=)
c.2546-56T= (n.2546-56T=)
16g.56894476A>CCA2576002272SLC12A3c.2522-55A>C (n.2522-55A>C)
c.2519-55A>C (n.2519-55A>C)
c.2549-55A>C (n.2549-55A>C)
c.2546-55A>C (n.2546-55A>C)
16g.56894477G>CCA2576002273SLC12A3c.2522-54G>C (n.2522-54G>C)
c.2519-54G>C (n.2519-54G>C)
c.2549-54G>C (n.2549-54G>C)
c.2546-54G>C (n.2546-54G>C)
16g.56894478T>ACA2576002274SLC12A3c.2522-53T>A (n.2522-53T>A)
c.2519-53T>A (n.2519-53T>A)
c.2549-53T>A (n.2549-53T>A)
c.2546-53T>A (n.2546-53T>A)
16g.56894479_56894481delinsGCTCA2224361179SLC12A3c.2522-52_2522-50delinsGCT (n.2522-52_2522-50delinsGCT)
c.2519-52_2519-50delinsGCT (n.2519-52_2519-50delinsGCT)
c.2549-52_2549-50delinsGCT (n.2549-52_2549-50delinsGCT)
c.2546-52_2546-50delinsGCT (n.2546-52_2546-50delinsGCT)
16g.56894480C>ACA8069947SLC12A3c.2522-51C>A (n.2522-51C>A)
c.2519-51C>A (n.2519-51C>A)
c.2549-51C>A (n.2549-51C>A)
c.2546-51C>A (n.2546-51C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894480C=CA2224361182SLC12A3c.2522-51C= (n.2522-51C=)
c.2519-51C= (n.2519-51C=)
c.2549-51C= (n.2549-51C=)
c.2546-51C= (n.2546-51C=)
16g.56894480C>GCA2633374364SLC12A3c.2522-51C>G (n.2522-51C>G)
c.2519-51C>G (n.2519-51C>G)
c.2549-51C>G (n.2549-51C>G)
c.2546-51C>G (n.2546-51C>G)
 gnomAD v4
16g.56894480C>TCA2224361180SLC12A3c.2522-51C>T (n.2522-51C>T)
c.2519-51C>T (n.2519-51C>T)
c.2549-51C>T (n.2549-51C>T)
c.2546-51C>T (n.2546-51C>T)
 dbSNP
16g.56894482_56894483delCA2224361181SLC12A3c.2522-49_2522-48del (n.2522-49_2522-48del)
c.2519-49_2519-48del (n.2519-49_2519-48del)
c.2549-49_2549-48del (n.2549-49_2549-48del)
c.2546-49_2546-48del (n.2546-49_2546-48del)
 dbSNP
16g.56894482C>ACA2633374367SLC12A3c.2522-49C>A (n.2522-49C>A)
c.2519-49C>A (n.2519-49C>A)
c.2549-49C>A (n.2549-49C>A)
c.2546-49C>A (n.2546-49C>A)
 gnomAD v4
16g.56894482C>GCA2633374369SLC12A3c.2522-49C>G (n.2522-49C>G)
c.2519-49C>G (n.2519-49C>G)
c.2549-49C>G (n.2549-49C>G)
c.2546-49C>G (n.2546-49C>G)
 gnomAD v4
16g.56894484G>ACA2224361184SLC12A3c.2522-47G>A (n.2522-47G>A)
c.2519-47G>A (n.2519-47G>A)
c.2549-47G>A (n.2549-47G>A)
c.2546-47G>A (n.2546-47G>A)
 dbSNP
16g.56894484G=CA2224361183SLC12A3c.2522-47G= (n.2522-47G=)
c.2519-47G= (n.2519-47G=)
c.2549-47G= (n.2549-47G=)
c.2546-47G= (n.2546-47G=)
16g.56894485T>CCA2224361186SLC12A3c.2522-46T>C (n.2522-46T>C)
c.2519-46T>C (n.2519-46T>C)
c.2549-46T>C (n.2549-46T>C)
c.2546-46T>C (n.2546-46T>C)
 dbSNP
16g.56894485T=CA2224361185SLC12A3c.2522-46T= (n.2522-46T=)
c.2519-46T= (n.2519-46T=)
c.2549-46T= (n.2549-46T=)
c.2546-46T= (n.2546-46T=)
16g.56894486C>ACA2224361188SLC12A3c.2522-45C>A (n.2522-45C>A)
c.2519-45C>A (n.2519-45C>A)
c.2549-45C>A (n.2549-45C>A)
c.2546-45C>A (n.2546-45C>A)
 dbSNP gnomAD v4
16g.56894486C=CA2224361187SLC12A3c.2522-45C= (n.2522-45C=)
c.2519-45C= (n.2519-45C=)
c.2549-45C= (n.2549-45C=)
c.2546-45C= (n.2546-45C=)
16g.56894486C>TCA8069948SLC12A3c.2522-45C>T (n.2522-45C>T)
c.2519-45C>T (n.2519-45C>T)
c.2549-45C>T (n.2549-45C>T)
c.2546-45C>T (n.2546-45C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894487C>ACA2633374390SLC12A3c.2522-44C>A (n.2522-44C>A)
c.2519-44C>A (n.2519-44C>A)
c.2549-44C>A (n.2549-44C>A)
c.2546-44C>A (n.2546-44C>A)
 gnomAD v4
16g.56894487C=CA2224361189SLC12A3c.2522-44C= (n.2522-44C=)
c.2519-44C= (n.2519-44C=)
c.2549-44C= (n.2549-44C=)
c.2546-44C= (n.2546-44C=)
16g.56894487C>TCA622340459SLC12A3c.2522-44C>T (n.2522-44C>T)
c.2519-44C>T (n.2519-44C>T)
c.2549-44C>T (n.2549-44C>T)
c.2546-44C>T (n.2546-44C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56894488T>CCA2576002275SLC12A3c.2522-43T>C (n.2522-43T>C)
c.2519-43T>C (n.2519-43T>C)
c.2549-43T>C (n.2549-43T>C)
c.2546-43T>C (n.2546-43T>C)
16g.56894489G>TCA2576002276SLC12A3c.2522-42G>T (n.2522-42G>T)
c.2519-42G>T (n.2519-42G>T)
c.2549-42G>T (n.2549-42G>T)
c.2546-42G>T (n.2546-42G>T)
16g.56894490A>GCA2633374392SLC12A3c.2522-41A>G (n.2522-41A>G)
c.2519-41A>G (n.2519-41A>G)
c.2549-41A>G (n.2549-41A>G)
c.2546-41A>G (n.2546-41A>G)
 gnomAD v4
16g.56894491G>ACA2576002277SLC12A3c.2522-40G>A (n.2522-40G>A)
c.2519-40G>A (n.2519-40G>A)
c.2549-40G>A (n.2549-40G>A)
c.2546-40G>A (n.2546-40G>A)
16g.56894491_56894496delinsGTGTATCA2224361190SLC12A3c.2522-40_2522-35delinsGTGTAT (n.2522-40_2522-35delinsGTGTAT)
c.2519-40_2519-35delinsGTGTAT (n.2519-40_2519-35delinsGTGTAT)
c.2549-40_2549-35delinsGTGTAT (n.2549-40_2549-35delinsGTGTAT)
c.2546-40_2546-35delinsGTGTAT (n.2546-40_2546-35delinsGTGTAT)
16g.56894492T>CCA8069950SLC12A3c.2522-39T>C (n.2522-39T>C)
c.2519-39T>C (n.2519-39T>C)
c.2549-39T>C (n.2549-39T>C)
c.2546-39T>C (n.2546-39T>C)
 dbSNP ExAC gnomAD v4
16g.56894492T>GCA2633374396SLC12A3c.2522-39T>G (n.2522-39T>G)
c.2519-39T>G (n.2519-39T>G)
c.2549-39T>G (n.2549-39T>G)
c.2546-39T>G (n.2546-39T>G)
 gnomAD v4
16g.56894492T=CA2224361191SLC12A3c.2522-39T= (n.2522-39T=)
c.2519-39T= (n.2519-39T=)
c.2549-39T= (n.2549-39T=)
c.2546-39T= (n.2546-39T=)
16g.56894493_56894497delCA8069949SLC12A3c.2522-38_2522-34del (n.2522-38_2522-34del)
c.2519-38_2519-34del (n.2519-38_2519-34del)
c.2549-38_2549-34del (n.2549-38_2549-34del)
c.2546-38_2546-34del (n.2546-38_2546-34del)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894493G>ACA8069951SLC12A3c.2522-38G>A (n.2522-38G>A)
c.2519-38G>A (n.2519-38G>A)
c.2549-38G>A (n.2549-38G>A)
c.2546-38G>A (n.2546-38G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894493G=CA2224361192SLC12A3c.2522-38G= (n.2522-38G=)
c.2519-38G= (n.2519-38G=)
c.2549-38G= (n.2549-38G=)
c.2546-38G= (n.2546-38G=)
16g.56894493G>TCA2576002278SLC12A3c.2522-38G>T (n.2522-38G>T)
c.2519-38G>T (n.2519-38G>T)
c.2549-38G>T (n.2549-38G>T)
c.2546-38G>T (n.2546-38G>T)
16g.56894495A>TCA2576002279SLC12A3c.2522-36A>T (n.2522-36A>T)
c.2519-36A>T (n.2519-36A>T)
c.2549-36A>T (n.2549-36A>T)
c.2546-36A>T (n.2546-36A>T)
16g.56894498C>ACA2633374400SLC12A3c.2522-33C>A (n.2522-33C>A)
c.2519-33C>A (n.2519-33C>A)
c.2549-33C>A (n.2549-33C>A)
c.2546-33C>A (n.2546-33C>A)
 gnomAD v4
16g.56894499T>GCA2545667362SLC12A3c.2522-32T>G (n.2522-32T>G)
c.2519-32T>G (n.2519-32T>G)
c.2549-32T>G (n.2549-32T>G)
c.2546-32T>G (n.2546-32T>G)
16g.56894501G>ACA622340466SLC12A3c.2522-30G>A (n.2522-30G>A)
c.2519-30G>A (n.2519-30G>A)
c.2549-30G>A (n.2549-30G>A)
c.2546-30G>A (n.2546-30G>A)
 dbSNP gnomAD v2
16g.56894501G=CA2224361193SLC12A3c.2522-30G= (n.2522-30G=)
c.2519-30G= (n.2519-30G=)
c.2549-30G= (n.2549-30G=)
c.2546-30G= (n.2546-30G=)
16g.56894502T>CCA977652811SLC12A3c.2522-29T>C (n.2522-29T>C)
c.2519-29T>C (n.2519-29T>C)
c.2549-29T>C (n.2549-29T>C)
c.2546-29T>C (n.2546-29T>C)
 dbSNP gnomAD v3 gnomAD v4
16g.56894502T=CA2224361194SLC12A3c.2522-29T= (n.2522-29T=)
c.2519-29T= (n.2519-29T=)
c.2549-29T= (n.2549-29T=)
c.2546-29T= (n.2546-29T=)
16g.56894503C>ACA2576002280SLC12A3c.2522-28C>A (n.2522-28C>A)
c.2519-28C>A (n.2519-28C>A)
c.2549-28C>A (n.2549-28C>A)
c.2546-28C>A (n.2546-28C>A)
 gnomAD v4
16g.56894504A=CA2224361195SLC12A3c.2522-27A= (n.2522-27A=)
c.2519-27A= (n.2519-27A=)
c.2549-27A= (n.2549-27A=)
c.2546-27A= (n.2546-27A=)
16g.56894504A>TCA2224361196SLC12A3c.2522-27A>T (n.2522-27A>T)
c.2519-27A>T (n.2519-27A>T)
c.2549-27A>T (n.2549-27A>T)
c.2546-27A>T (n.2546-27A>T)
 dbSNP
16g.56894506G>CCA2633374404SLC12A3c.2522-25G>C (n.2522-25G>C)
c.2519-25G>C (n.2519-25G>C)
c.2549-25G>C (n.2549-25G>C)
c.2546-25G>C (n.2546-25G>C)
 gnomAD v4
16g.56894506G>TCA2633374406SLC12A3c.2522-25G>T (n.2522-25G>T)
c.2519-25G>T (n.2519-25G>T)
c.2549-25G>T (n.2549-25G>T)
c.2546-25G>T (n.2546-25G>T)
 gnomAD v4
16g.56894507A=CA2224361197SLC12A3c.2522-24A= (n.2522-24A=)
c.2519-24A= (n.2519-24A=)
c.2549-24A= (n.2549-24A=)
c.2546-24A= (n.2546-24A=)
16g.56894507A>GCA622340468SLC12A3c.2522-24A>G (n.2522-24A>G)
c.2519-24A>G (n.2519-24A>G)
c.2549-24A>G (n.2549-24A>G)
c.2546-24A>G (n.2546-24A>G)
 dbSNP gnomAD v2 gnomAD v4
16g.56894508C>ACA2633374421SLC12A3c.2522-23C>A (n.2522-23C>A)
c.2519-23C>A (n.2519-23C>A)
c.2549-23C>A (n.2549-23C>A)
c.2546-23C>A (n.2546-23C>A)
 gnomAD v4
16g.56894508C>TCA2633374422SLC12A3c.2522-23C>T (n.2522-23C>T)
c.2519-23C>T (n.2519-23C>T)
c.2549-23C>T (n.2549-23C>T)
c.2546-23C>T (n.2546-23C>T)
 gnomAD v4
16g.56894510C>ACA622340471SLC12A3c.2522-21C>A (n.2522-21C>A)
c.2519-21C>A (n.2519-21C>A)
c.2549-21C>A (n.2549-21C>A)
c.2546-21C>A (n.2546-21C>A)
 dbSNP gnomAD v2 gnomAD v4
16g.56894510C=CA2224361199SLC12A3c.2522-21C= (n.2522-21C=)
c.2519-21C= (n.2519-21C=)
c.2549-21C= (n.2549-21C=)
c.2546-21C= (n.2546-21C=)
16g.56894510C>GCA2224361198SLC12A3c.2522-21C>G (n.2522-21C>G)
c.2519-21C>G (n.2519-21C>G)
c.2549-21C>G (n.2549-21C>G)
c.2546-21C>G (n.2546-21C>G)
 dbSNP gnomAD v4
16g.56894511A=CA2224361200SLC12A3c.2522-20A= (n.2522-20A=)
c.2519-20A= (n.2519-20A=)
c.2549-20A= (n.2549-20A=)
c.2546-20A= (n.2546-20A=)
16g.56894511A>GCA8069952SLC12A3c.2522-20A>G (n.2522-20A>G)
c.2519-20A>G (n.2519-20A>G)
c.2549-20A>G (n.2549-20A>G)
c.2546-20A>G (n.2546-20A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894512C>ACA2633374427SLC12A3c.2522-19C>A (n.2522-19C>A)
c.2519-19C>A (n.2519-19C>A)
c.2549-19C>A (n.2549-19C>A)
c.2546-19C>A (n.2546-19C>A)
 gnomAD v4
16g.56894512C=CA2224361201SLC12A3c.2522-19C= (n.2522-19C=)
c.2519-19C= (n.2519-19C=)
c.2549-19C= (n.2549-19C=)
c.2546-19C= (n.2546-19C=)
16g.56894512C>GCA8069954SLC12A3c.2522-19C>G (n.2522-19C>G)
c.2519-19C>G (n.2519-19C>G)
c.2549-19C>G (n.2549-19C>G)
c.2546-19C>G (n.2546-19C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894512C>TCA8069953SLC12A3c.2522-19C>T (n.2522-19C>T)
c.2519-19C>T (n.2519-19C>T)
c.2549-19C>T (n.2549-19C>T)
c.2546-19C>T (n.2546-19C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894513G>ACA8069955SLC12A3c.2522-18G>A (n.2522-18G>A)
c.2519-18G>A (n.2519-18G>A)
c.2549-18G>A (n.2549-18G>A)
c.2546-18G>A (n.2546-18G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894513G>CCA2633374433SLC12A3c.2522-18G>C (n.2522-18G>C)
c.2519-18G>C (n.2519-18G>C)
c.2549-18G>C (n.2549-18G>C)
c.2546-18G>C (n.2546-18G>C)
 gnomAD v4
16g.56894513G=CA2224361202SLC12A3c.2522-18G= (n.2522-18G=)
c.2519-18G= (n.2519-18G=)
c.2549-18G= (n.2549-18G=)
c.2546-18G= (n.2546-18G=)
16g.56894513G>TCA622340479SLC12A3c.2522-18G>T (n.2522-18G>T)
c.2519-18G>T (n.2519-18G>T)
c.2549-18G>T (n.2549-18G>T)
c.2546-18G>T (n.2546-18G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56894516delCA2633374432SLC12A3c.2522-15del (n.2522-15del)
c.2519-15del (n.2519-15del)
c.2549-15del (n.2549-15del)
c.2546-15del (n.2546-15del)
 ClinVar gnomAD v4
16g.56894514G>ACA2633374435SLC12A3c.2522-17G>A (n.2522-17G>A)
c.2519-17G>A (n.2519-17G>A)
c.2549-17G>A (n.2549-17G>A)
c.2546-17G>A (n.2546-17G>A)
 gnomAD v4
16g.56894514G>CCA281514239SLC12A3c.2522-17G>C (n.2522-17G>C)
c.2519-17G>C (n.2519-17G>C)
c.2549-17G>C (n.2549-17G>C)
c.2546-17G>C (n.2546-17G>C)
 dbSNP
16g.56894514G=CA2224361203SLC12A3c.2522-17G= (n.2522-17G=)
c.2519-17G= (n.2519-17G=)
c.2549-17G= (n.2549-17G=)
c.2546-17G= (n.2546-17G=)
16g.56894514G>TCA2576002281SLC12A3c.2522-17G>T (n.2522-17G>T)
c.2519-17G>T (n.2519-17G>T)
c.2549-17G>T (n.2549-17G>T)
c.2546-17G>T (n.2546-17G>T)
16g.56894516G>ACA8069956SLC12A3c.2522-15G>A (n.2522-15G>A)
c.2519-15G>A (n.2519-15G>A)
c.2549-15G>A (n.2549-15G>A)
c.2546-15G>A (n.2546-15G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894516G=CA2224361204SLC12A3c.2522-15G= (n.2522-15G=)
c.2519-15G= (n.2519-15G=)
c.2549-15G= (n.2549-15G=)
c.2546-15G= (n.2546-15G=)
16g.56894516G>TCA2697555874SLC12A3c.2522-15G>T (n.2522-15G>T)
c.2519-15G>T (n.2519-15G>T)
c.2549-15G>T (n.2549-15G>T)
c.2546-15G>T (n.2546-15G>T)
 ClinVar
16g.56894517A>TCA2633374437SLC12A3c.2522-14A>T (n.2522-14A>T)
c.2519-14A>T (n.2519-14A>T)
c.2549-14A>T (n.2549-14A>T)
c.2546-14A>T (n.2546-14A>T)
 gnomAD v4
16g.56894518C>ACA2633374438SLC12A3c.2522-13C>A (n.2522-13C>A)
c.2519-13C>A (n.2519-13C>A)
c.2549-13C>A (n.2549-13C>A)
c.2546-13C>A (n.2546-13C>A)
 gnomAD v4
16g.56894520C>ACA2633374439SLC12A3c.2522-11C>A (n.2522-11C>A)
c.2519-11C>A (n.2519-11C>A)
c.2549-11C>A (n.2549-11C>A)
c.2546-11C>A (n.2546-11C>A)
 gnomAD v4
16g.56894521T>CCA8069957SLC12A3c.2522-10T>C (n.2522-10T>C)
c.2519-10T>C (n.2519-10T>C)
c.2549-10T>C (n.2549-10T>C)
c.2546-10T>C (n.2546-10T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894521T=CA2224361205SLC12A3c.2522-10T= (n.2522-10T=)
c.2519-10T= (n.2519-10T=)
c.2549-10T= (n.2549-10T=)
c.2546-10T= (n.2546-10T=)
16g.56894522C>ACA8069958SLC12A3c.2522-9C>A (n.2522-9C>A)
c.2519-9C>A (n.2519-9C>A)
c.2549-9C>A (n.2549-9C>A)
c.2546-9C>A (n.2546-9C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894522C=CA2224361206SLC12A3c.2522-9C= (n.2522-9C=)
c.2519-9C= (n.2519-9C=)
c.2549-9C= (n.2549-9C=)
c.2546-9C= (n.2546-9C=)
16g.56894525T>ACA2633374440SLC12A3c.2522-6T>A (n.2522-6T>A)
c.2519-6T>A (n.2519-6T>A)
c.2549-6T>A (n.2549-6T>A)
c.2546-6T>A (n.2546-6T>A)
 gnomAD v4
16g.56894527C>ACA2633374441SLC12A3c.2522-4C>A (n.2522-4C>A)
c.2519-4C>A (n.2519-4C>A)
c.2549-4C>A (n.2549-4C>A)
c.2546-4C>A (n.2546-4C>A)
 gnomAD v4
16g.56894528C=CA2224361207SLC12A3c.2522-3C= (n.2522-3C=)
c.2519-3C= (n.2519-3C=)
c.2549-3C= (n.2549-3C=)
c.2546-3C= (n.2546-3C=)
16g.56894528C>TCA281514263SLC12A3c.2522-3C>T (n.2522-3C>T)
c.2519-3C>T (n.2519-3C>T)
c.2549-3C>T (n.2549-3C>T)
c.2546-3C>T (n.2546-3C>T)
 dbSNP
16g.56894529delCA2573152456SLC12A3c.2522-2del (n.2522-2del)
c.2519-2del (n.2519-2del)
c.2549-2del (n.2549-2del)
c.2546-2del (n.2546-2del)
 ClinVar dbSNP
16g.56894529A>CCA395997208SLC12A3c.2522-2A>C (n.2522-2A>C)
c.2519-2A>C (n.2519-2A>C)
c.2549-2A>C (n.2549-2A>C)
c.2546-2A>C (n.2546-2A>C)
 ClinVar
16g.56894529A>GCA395997210SLC12A3c.2522-2A>G (n.2522-2A>G)
c.2519-2A>G (n.2519-2A>G)
c.2549-2A>G (n.2549-2A>G)
c.2546-2A>G (n.2546-2A>G)
16g.56894529A>TCA395997211SLC12A3c.2522-2A>T (n.2522-2A>T)
c.2519-2A>T (n.2519-2A>T)
c.2549-2A>T (n.2549-2A>T)
c.2546-2A>T (n.2546-2A>T)
16g.56894530G>ACA8069959SLC12A3c.2522-1G>A (n.2522-1G>A)
c.2519-1G>A (n.2519-1G>A)
c.2549-1G>A (n.2549-1G>A)
c.2546-1G>A (n.2546-1G>A)
 dbSNP ExAC gnomAD v2
16g.56894530G>CCA395997213SLC12A3c.2522-1G>C (n.2522-1G>C)
c.2519-1G>C (n.2519-1G>C)
c.2549-1G>C (n.2549-1G>C)
c.2546-1G>C (n.2546-1G>C)
16g.56894530G=CA2224361208SLC12A3c.2522-1G= (n.2522-1G=)
c.2519-1G= (n.2519-1G=)
c.2549-1G= (n.2549-1G=)
c.2546-1G= (n.2546-1G=)
16g.56894530G>TCA395997215SLC12A3c.2522-1G>T (n.2522-1G>T)
c.2519-1G>T (n.2519-1G>T)
c.2549-1G>T (n.2549-1G>T)
c.2546-1G>T (n.2546-1G>T)
16g.56894531G>ACA395997216SLC12A3c.2522G>A (p.Gly841Asp)
c.2519G>A (p.Gly840Asp)
c.2549G>A (p.Gly850Asp)
c.2546G>A (p.Gly849Asp)
16g.56894531G>CCA395997217SLC12A3c.2522G>C (p.Gly841Ala)
c.2519G>C (p.Gly840Ala)
c.2549G>C (p.Gly850Ala)
c.2546G>C (p.Gly849Ala)
16g.56894531G>TCA395997218SLC12A3c.2522G>T (p.Gly841Val)
c.2519G>T (p.Gly840Val)
c.2549G>T (p.Gly850Val)
c.2546G>T (p.Gly849Val)
16g.56894532C>ACA495612724SLC12A3c.2523C>A (p.Gly841=)
c.2520C>A (p.Gly840=)
c.2550C>A (p.Gly850=)
c.2547C>A (p.Gly849=)
16g.56894532C=CA2224361209SLC12A3c.2523C= (p.Gly841=)
c.2520C= (p.Gly840=)
c.2550C= (p.Gly850=)
c.2547C= (p.Gly849=)
16g.56894532C>GCA495612725SLC12A3c.2523C>G (p.Gly841=)
c.2520C>G (p.Gly840=)
c.2550C>G (p.Gly850=)
c.2547C>G (p.Gly849=)
16g.56894532C>TCA495612726SLC12A3c.2523C>T (p.Gly841=)
c.2520C>T (p.Gly840=)
c.2550C>T (p.Gly850=)
c.2547C>T (p.Gly849=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56894533C>ACA395997219SLC12A3c.2524C>A (p.Leu842Ile)
c.2521C>A (p.Leu841Ile)
c.2551C>A (p.Leu851Ile)
c.2548C>A (p.Leu850Ile)
16g.56894533C>GCA395997221SLC12A3c.2524C>G (p.Leu842Val)
c.2521C>G (p.Leu841Val)
c.2551C>G (p.Leu851Val)
c.2548C>G (p.Leu850Val)
16g.56894533C>TCA395997223SLC12A3c.2524C>T (p.Leu842Phe)
c.2521C>T (p.Leu841Phe)
c.2551C>T (p.Leu851Phe)
c.2548C>T (p.Leu850Phe)
 gnomAD v4
16g.56894534_56894535dupCA2695223460SLC12A3c.2525_2526dup (p.Thr843SerfsTer24)
c.2522_2523dup (p.Thr842SerfsTer24)
c.2552_2553dup (p.Thr852SerfsTer24)
c.2549_2550dup (p.Thr851SerfsTer24)
16g.56894534T>ACA395997227SLC12A3c.2525T>A (p.Leu842His)
c.2522T>A (p.Leu841His)
c.2552T>A (p.Leu851His)
c.2549T>A (p.Leu850His)
16g.56894534T>CCA395997224SLC12A3c.2525T>C (p.Leu842Pro)
c.2522T>C (p.Leu841Pro)
c.2552T>C (p.Leu851Pro)
c.2549T>C (p.Leu850Pro)
16g.56894534T>GCA395997226SLC12A3c.2525T>G (p.Leu842Arg)
c.2522T>G (p.Leu841Arg)
c.2552T>G (p.Leu851Arg)
c.2549T>G (p.Leu850Arg)
16g.56894535C>ACA495612727SLC12A3c.2526C>A (p.Leu842=)
c.2523C>A (p.Leu841=)
c.2553C>A (p.Leu851=)
c.2550C>A (p.Leu850=)
16g.56894535C>GCA495612728SLC12A3c.2526C>G (p.Leu842=)
c.2523C>G (p.Leu841=)
c.2553C>G (p.Leu851=)
c.2550C>G (p.Leu850=)
16g.56894535C>TCA495612729SLC12A3c.2526C>T (p.Leu842=)
c.2523C>T (p.Leu841=)
c.2553C>T (p.Leu851=)
c.2550C>T (p.Leu850=)
16g.56894536A>CCA395997229SLC12A3c.2527A>C (p.Thr843Pro)
c.2524A>C (p.Thr842Pro)
c.2554A>C (p.Thr852Pro)
c.2551A>C (p.Thr851Pro)
16g.56894536A>GCA395997231SLC12A3c.2527A>G (p.Thr843Ala)
c.2524A>G (p.Thr842Ala)
c.2554A>G (p.Thr852Ala)
c.2551A>G (p.Thr851Ala)
16g.56894536A>TCA395997232SLC12A3c.2527A>T (p.Thr843Ser)
c.2524A>T (p.Thr842Ser)
c.2554A>T (p.Thr852Ser)
c.2551A>T (p.Thr851Ser)
16g.56894537C>ACA395997234SLC12A3c.2528C>A (p.Thr843Asn)
c.2525C>A (p.Thr842Asn)
c.2555C>A (p.Thr852Asn)
c.2552C>A (p.Thr851Asn)
 dbSNP gnomAD v2 gnomAD v4
16g.56894537C=CA2224361210SLC12A3c.2528C= (p.Thr843=)
c.2525C= (p.Thr842=)
c.2555C= (p.Thr852=)
c.2552C= (p.Thr851=)
16g.56894537C>GCA395997235SLC12A3c.2528C>G (p.Thr843Ser)
c.2525C>G (p.Thr842Ser)
c.2555C>G (p.Thr852Ser)
c.2552C>G (p.Thr851Ser)
16g.56894537C>TCA395997237SLC12A3c.2528C>T (p.Thr843Ile)
c.2525C>T (p.Thr842Ile)
c.2555C>T (p.Thr852Ile)
c.2552C>T (p.Thr851Ile)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
16g.56894538C>ACA495612730SLC12A3c.2529C>A (p.Thr843=)
c.2526C>A (p.Thr842=)
c.2556C>A (p.Thr852=)
c.2553C>A (p.Thr851=)
16g.56894538C=CA2224361211SLC12A3c.2529C= (p.Thr843=)
c.2526C= (p.Thr842=)
c.2556C= (p.Thr852=)
c.2553C= (p.Thr851=)
16g.56894538C>GCA495612731SLC12A3c.2529C>G (p.Thr843=)
c.2526C>G (p.Thr842=)
c.2556C>G (p.Thr852=)
c.2553C>G (p.Thr851=)
 dbSNP gnomAD v4
16g.56894538C>TCA495612732SLC12A3c.2529C>T (p.Thr843=)
c.2526C>T (p.Thr842=)
c.2556C>T (p.Thr852=)
c.2553C>T (p.Thr851=)
 dbSNP gnomAD v3 gnomAD v4
16g.56894539C>ACA395997239SLC12A3c.2530C>A (p.Leu844Ile)
c.2527C>A (p.Leu843Ile)
c.2557C>A (p.Leu853Ile)
c.2554C>A (p.Leu852Ile)
16g.56894539C=CA2224361212SLC12A3c.2530C= (p.Leu844=)
c.2527C= (p.Leu843=)
c.2557C= (p.Leu853=)
c.2554C= (p.Leu852=)
16g.56894539C>GCA395997241SLC12A3c.2530C>G (p.Leu844Val)
c.2527C>G (p.Leu843Val)
c.2557C>G (p.Leu853Val)
c.2554C>G (p.Leu852Val)
 dbSNP gnomAD v2 gnomAD v4
16g.56894539C>TCA8069960SLC12A3c.2530C>T (p.Leu844Phe)
c.2527C>T (p.Leu843Phe)
c.2557C>T (p.Leu853Phe)
c.2554C>T (p.Leu852Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894540T>ACA395997243SLC12A3c.2531T>A (p.Leu844His)
c.2528T>A (p.Leu843His)
c.2558T>A (p.Leu853His)
c.2555T>A (p.Leu852His)
 dbSNP
16g.56894540T>CCA395997244SLC12A3c.2531T>C (p.Leu844Pro)
c.2528T>C (p.Leu843Pro)
c.2558T>C (p.Leu853Pro)
c.2555T>C (p.Leu852Pro)
16g.56894540T>GCA395997245SLC12A3c.2531T>G (p.Leu844Arg)
c.2528T>G (p.Leu843Arg)
c.2558T>G (p.Leu853Arg)
c.2555T>G (p.Leu852Arg)
16g.56894540T=CA2224361214SLC12A3c.2531T= (p.Leu844=)
c.2528T= (p.Leu843=)
c.2558T= (p.Leu853=)
c.2555T= (p.Leu852=)
16g.56894540_56894541delinsTCCA2224361213SLC12A3c.2531_2532delinsTC (p.Leu844=)
c.2528_2529delinsTC (p.Leu843=)
c.2558_2559delinsTC (p.Leu853=)
c.2555_2556delinsTC (p.Leu852=)
16g.56894541C>ACA495612734SLC12A3c.2532C>A (p.Leu844=)
c.2529C>A (p.Leu843=)
c.2559C>A (p.Leu853=)
c.2556C>A (p.Leu852=)
16g.56894541C>GCA495612733SLC12A3c.2532C>G (p.Leu844=)
c.2529C>G (p.Leu843=)
c.2559C>G (p.Leu853=)
c.2556C>G (p.Leu852=)
16g.56894541C>TCA495612735SLC12A3c.2532C>T (p.Leu844=)
c.2529C>T (p.Leu843=)
c.2559C>T (p.Leu853=)
c.2556C>T (p.Leu852=)
 ClinVar dbSNP
16g.56894542delCA8069961SLC12A3c.2533del (p.Leu845SerfsTer21)
c.2530del (p.Leu844SerfsTer21)
c.2560del (p.Leu854SerfsTer21)
c.2557del (p.Leu853SerfsTer21)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894542C>ACA395997247SLC12A3c.2533C>A (p.Leu845Ile)
c.2530C>A (p.Leu844Ile)
c.2560C>A (p.Leu854Ile)
c.2557C>A (p.Leu853Ile)
16g.56894542C>GCA395997246SLC12A3c.2533C>G (p.Leu845Val)
c.2530C>G (p.Leu844Val)
c.2560C>G (p.Leu854Val)
c.2557C>G (p.Leu853Val)
16g.56894542C>TCA395997248SLC12A3c.2533C>T (p.Leu845Phe)
c.2530C>T (p.Leu844Phe)
c.2560C>T (p.Leu854Phe)
c.2557C>T (p.Leu853Phe)
16g.56894543T>ACA395997251SLC12A3c.2534T>A (p.Leu845His)
c.2531T>A (p.Leu844His)
c.2561T>A (p.Leu854His)
c.2558T>A (p.Leu853His)
16g.56894543T>CCA395997253SLC12A3c.2534T>C (p.Leu845Pro)
c.2531T>C (p.Leu844Pro)
c.2561T>C (p.Leu854Pro)
c.2558T>C (p.Leu853Pro)
16g.56894543T>GCA395997254SLC12A3c.2534T>G (p.Leu845Arg)
c.2531T>G (p.Leu844Arg)
c.2561T>G (p.Leu854Arg)
c.2558T>G (p.Leu853Arg)
16g.56894544C>ACA495612736SLC12A3c.2535C>A (p.Leu845=)
c.2532C>A (p.Leu844=)
c.2562C>A (p.Leu854=)
c.2559C>A (p.Leu853=)
16g.56894544C>GCA495612738SLC12A3c.2535C>G (p.Leu845=)
c.2532C>G (p.Leu844=)
c.2562C>G (p.Leu854=)
c.2559C>G (p.Leu853=)
16g.56894544C>TCA495612737SLC12A3c.2535C>T (p.Leu845=)
c.2532C>T (p.Leu844=)
c.2562C>T (p.Leu854=)
c.2559C>T (p.Leu853=)
16g.56894545A=CA2224361215SLC12A3c.2536A= (p.Ile846=)
c.2533A= (p.Ile845=)
c.2563A= (p.Ile855=)
c.2560A= (p.Ile854=)
16g.56894545A>CCA395997257SLC12A3c.2536A>C (p.Ile846Leu)
c.2533A>C (p.Ile845Leu)
c.2563A>C (p.Ile855Leu)
c.2560A>C (p.Ile854Leu)
16g.56894545A>GCA395997259SLC12A3c.2536A>G (p.Ile846Val)
c.2533A>G (p.Ile845Val)
c.2563A>G (p.Ile855Val)
c.2560A>G (p.Ile854Val)
16g.56894545A>TCA281514275SLC12A3c.2536A>T (p.Ile846Phe)
c.2533A>T (p.Ile845Phe)
c.2563A>T (p.Ile855Phe)
c.2560A>T (p.Ile854Phe)
 dbSNP
16g.56894546T>ACA395997263SLC12A3c.2537T>A (p.Ile846Asn)
c.2534T>A (p.Ile845Asn)
c.2564T>A (p.Ile855Asn)
c.2561T>A (p.Ile854Asn)
16g.56894546T>CCA395997265SLC12A3c.2537T>C (p.Ile846Thr)
c.2534T>C (p.Ile845Thr)
c.2564T>C (p.Ile855Thr)
c.2561T>C (p.Ile854Thr)
16g.56894546T>GCA395997267SLC12A3c.2537T>G (p.Ile846Ser)
c.2534T>G (p.Ile845Ser)
c.2564T>G (p.Ile855Ser)
c.2561T>G (p.Ile854Ser)
16g.56894547T>ACA495612739SLC12A3c.2538T>A (p.Ile846=)
c.2535T>A (p.Ile845=)
c.2565T>A (p.Ile855=)
c.2562T>A (p.Ile854=)
16g.56894547T>CCA495612740SLC12A3c.2538T>C (p.Ile846=)
c.2535T>C (p.Ile845=)
c.2565T>C (p.Ile855=)
c.2562T>C (p.Ile854=)
16g.56894547T>GCA395997268SLC12A3c.2538T>G (p.Ile846Met)
c.2535T>G (p.Ile845Met)
c.2565T>G (p.Ile855Met)
c.2562T>G (p.Ile854Met)
16g.56894548C>ACA395997270SLC12A3c.2539C>A (p.Pro847Thr)
c.2536C>A (p.Pro846Thr)
c.2566C>A (p.Pro856Thr)
c.2563C>A (p.Pro855Thr)
16g.56894548C>GCA395997273SLC12A3c.2539C>G (p.Pro847Ala)
c.2536C>G (p.Pro846Ala)
c.2566C>G (p.Pro856Ala)
c.2563C>G (p.Pro855Ala)
16g.56894548C>TCA395997276SLC12A3c.2539C>T (p.Pro847Ser)
c.2536C>T (p.Pro846Ser)
c.2566C>T (p.Pro856Ser)
c.2563C>T (p.Pro855Ser)
16g.56894549C>ACA395997281SLC12A3c.2540C>A (p.Pro847His)
c.2537C>A (p.Pro846His)
c.2567C>A (p.Pro856His)
c.2564C>A (p.Pro855His)
16g.56894549C>GCA395997284SLC12A3c.2540C>G (p.Pro847Arg)
c.2537C>G (p.Pro846Arg)
c.2567C>G (p.Pro856Arg)
c.2564C>G (p.Pro855Arg)
16g.56894549C>TCA395997279SLC12A3c.2540C>T (p.Pro847Leu)
c.2537C>T (p.Pro846Leu)
c.2567C>T (p.Pro856Leu)
c.2564C>T (p.Pro855Leu)
16g.56894550C>ACA495612741SLC12A3c.2541C>A (p.Pro847=)
c.2538C>A (p.Pro846=)
c.2568C>A (p.Pro856=)
c.2565C>A (p.Pro855=)
 dbSNP
16g.56894550C=CA2224361216SLC12A3c.2541C= (p.Pro847=)
c.2538C= (p.Pro846=)
c.2568C= (p.Pro856=)
c.2565C= (p.Pro855=)
16g.56894550C>GCA495612742SLC12A3c.2541C>G (p.Pro847=)
c.2538C>G (p.Pro846=)
c.2568C>G (p.Pro856=)
c.2565C>G (p.Pro855=)
16g.56894550C>TCA495612743SLC12A3c.2541C>T (p.Pro847=)
c.2538C>T (p.Pro846=)
c.2568C>T (p.Pro856=)
c.2565C>T (p.Pro855=)
 dbSNP gnomAD v2
16g.56894551T>ACA395997287SLC12A3c.2542T>A (p.Tyr848Asn)
c.2539T>A (p.Tyr847Asn)
c.2569T>A (p.Tyr857Asn)
c.2566T>A (p.Tyr856Asn)
 COSMIC
16g.56894551T>CCA395997290SLC12A3c.2542T>C (p.Tyr848His)
c.2539T>C (p.Tyr847His)
c.2569T>C (p.Tyr857His)
c.2566T>C (p.Tyr856His)
16g.56894551T>GCA395997292SLC12A3c.2542T>G (p.Tyr848Asp)
c.2539T>G (p.Tyr847Asp)
c.2569T>G (p.Tyr857Asp)
c.2566T>G (p.Tyr856Asp)
16g.56894552A>CCA395997294SLC12A3c.2543A>C (p.Tyr848Ser)
c.2540A>C (p.Tyr847Ser)
c.2570A>C (p.Tyr857Ser)
c.2567A>C (p.Tyr856Ser)
16g.56894552A>GCA395997297SLC12A3c.2543A>G (p.Tyr848Cys)
c.2540A>G (p.Tyr847Cys)
c.2570A>G (p.Tyr857Cys)
c.2567A>G (p.Tyr856Cys)
16g.56894552A>TCA395997299SLC12A3c.2543A>T (p.Tyr848Phe)
c.2540A>T (p.Tyr847Phe)
c.2570A>T (p.Tyr857Phe)
c.2567A>T (p.Tyr856Phe)
16g.56894553T>ACA395997312SLC12A3c.2544T>A (p.Tyr848Ter)
c.2541T>A (p.Tyr847Ter)
c.2571T>A (p.Tyr857Ter)
c.2568T>A (p.Tyr856Ter)
16g.56894553T>CCA495612744SLC12A3c.2544T>C (p.Tyr848=)
c.2541T>C (p.Tyr847=)
c.2571T>C (p.Tyr857=)
c.2568T>C (p.Tyr856=)
 dbSNP
16g.56894553T>GCA395997314SLC12A3c.2544T>G (p.Tyr848Ter)
c.2541T>G (p.Tyr847Ter)
c.2571T>G (p.Tyr857Ter)
c.2568T>G (p.Tyr856Ter)
 ClinVar dbSNP
16g.56894553T=CA2224361217SLC12A3c.2544T= (p.Tyr848=)
c.2541T= (p.Tyr847=)
c.2571T= (p.Tyr857=)
c.2568T= (p.Tyr856=)
16g.56894554C>ACA395997316SLC12A3c.2545C>A (p.Leu849Ile)
c.2542C>A (p.Leu848Ile)
c.2572C>A (p.Leu858Ile)
c.2569C>A (p.Leu857Ile)
16g.56894554C>GCA395997318SLC12A3c.2545C>G (p.Leu849Val)
c.2542C>G (p.Leu848Val)
c.2572C>G (p.Leu858Val)
c.2569C>G (p.Leu857Val)
16g.56894554C>TCA395997319SLC12A3c.2545C>T (p.Leu849Phe)
c.2542C>T (p.Leu848Phe)
c.2572C>T (p.Leu858Phe)
c.2569C>T (p.Leu857Phe)
 ClinVar gnomAD v4
16g.56894555T>ACA8069962SLC12A3c.2546T>A (p.Leu849His)
c.2543T>A (p.Leu848His)
c.2573T>A (p.Leu858His)
c.2570T>A (p.Leu857His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894555T>CCA395997324SLC12A3c.2546T>C (p.Leu849Pro)
c.2543T>C (p.Leu848Pro)
c.2573T>C (p.Leu858Pro)
c.2570T>C (p.Leu857Pro)
16g.56894555T>GCA395997325SLC12A3c.2546T>G (p.Leu849Arg)
c.2543T>G (p.Leu848Arg)
c.2573T>G (p.Leu858Arg)
c.2570T>G (p.Leu857Arg)
16g.56894555T=CA2224361218SLC12A3c.2546T= (p.Leu849=)
c.2543T= (p.Leu848=)
c.2573T= (p.Leu858=)
c.2570T= (p.Leu857=)
16g.56894556C>ACA495612745SLC12A3c.2547C>A (p.Leu849=)
c.2544C>A (p.Leu848=)
c.2574C>A (p.Leu858=)
c.2571C>A (p.Leu857=)
16g.56894556C=CA2224361219SLC12A3c.2547C= (p.Leu849=)
c.2544C= (p.Leu848=)
c.2574C= (p.Leu858=)
c.2571C= (p.Leu857=)
16g.56894556C>GCA495612746SLC12A3c.2547C>G (p.Leu849=)
c.2544C>G (p.Leu848=)
c.2574C>G (p.Leu858=)
c.2571C>G (p.Leu857=)
16g.56894556C>TCA8069963SLC12A3c.2547C>T (p.Leu849=)
c.2544C>T (p.Leu848=)
c.2574C>T (p.Leu858=)
c.2571C>T (p.Leu857=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.56894557C>ACA8069964SLC12A3c.2548C>A (p.Leu850Ile)
c.2545C>A (p.Leu849Ile)
c.2575C>A (p.Leu859Ile)
c.2572C>A (p.Leu858Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894557C=CA2224361220SLC12A3c.2548C= (p.Leu850=)
c.2545C= (p.Leu849=)
c.2575C= (p.Leu859=)
c.2572C= (p.Leu858=)
16g.56894557C>GCA395997330SLC12A3c.2548C>G (p.Leu850Val)
c.2545C>G (p.Leu849Val)
c.2575C>G (p.Leu859Val)
c.2572C>G (p.Leu858Val)
16g.56894557C>TCA395997333SLC12A3c.2548C>T (p.Leu850Phe)
c.2545C>T (p.Leu849Phe)
c.2575C>T (p.Leu859Phe)
c.2572C>T (p.Leu858Phe)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56894558T>ACA395997337SLC12A3c.2549T>A (p.Leu850His)
c.2546T>A (p.Leu849His)
c.2576T>A (p.Leu859His)
c.2573T>A (p.Leu858His)
16g.56894558T>CCA250046SLC12A3c.2549T>C (p.Leu850Pro)
c.2546T>C (p.Leu849Pro)
c.2576T>C (p.Leu859Pro)
c.2573T>C (p.Leu858Pro)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894558T>GCA395997340SLC12A3c.2549T>G (p.Leu850Arg)
c.2546T>G (p.Leu849Arg)
c.2576T>G (p.Leu859Arg)
c.2573T>G (p.Leu858Arg)
16g.56894558T=CA2224361221SLC12A3c.2549T= (p.Leu850=)
c.2546T= (p.Leu849=)
c.2576T= (p.Leu859=)
c.2573T= (p.Leu858=)
16g.56894559T>ACA495612747SLC12A3c.2550T>A (p.Leu850=)
c.2547T>A (p.Leu849=)
c.2577T>A (p.Leu859=)
c.2574T>A (p.Leu858=)
16g.56894559T>CCA8069965SLC12A3c.2550T>C (p.Leu850=)
c.2547T>C (p.Leu849=)
c.2577T>C (p.Leu859=)
c.2574T>C (p.Leu858=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894559T>GCA495612748SLC12A3c.2550T>G (p.Leu850=)
c.2547T>G (p.Leu849=)
c.2577T>G (p.Leu859=)
c.2574T>G (p.Leu858=)
16g.56894559T=CA2224361222SLC12A3c.2550T= (p.Leu850=)
c.2547T= (p.Leu849=)
c.2577T= (p.Leu859=)
c.2574T= (p.Leu858=)

Number of alleles fetched