Chr Mutation (hg38) CAid Gene Transcript Linkouts
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=)
16g.56894560G>ACA395997351SLC12A3c.2551G>A (p.Gly851Ser)
c.2548G>A (p.Gly850Ser)
c.2578G>A (p.Gly860Ser)
c.2575G>A (p.Gly859Ser)
16g.56894560G>CCA395997349SLC12A3c.2551G>C (p.Gly851Arg)
c.2548G>C (p.Gly850Arg)
c.2578G>C (p.Gly860Arg)
c.2575G>C (p.Gly859Arg)
16g.56894560G>TCA395997346SLC12A3c.2551G>T (p.Gly851Cys)
c.2548G>T (p.Gly850Cys)
c.2578G>T (p.Gly860Cys)
c.2575G>T (p.Gly859Cys)
16g.56894561G>ACA395997352SLC12A3c.2552G>A (p.Gly851Asp)
c.2549G>A (p.Gly850Asp)
c.2579G>A (p.Gly860Asp)
c.2576G>A (p.Gly859Asp)
16g.56894561G>CCA395997354SLC12A3c.2552G>C (p.Gly851Ala)
c.2549G>C (p.Gly850Ala)
c.2579G>C (p.Gly860Ala)
c.2576G>C (p.Gly859Ala)
16g.56894561G>TCA395997355SLC12A3c.2552G>T (p.Gly851Val)
c.2549G>T (p.Gly850Val)
c.2579G>T (p.Gly860Val)
c.2576G>T (p.Gly859Val)
16g.56894562C>ACA495612749SLC12A3c.2553C>A (p.Gly851=)
c.2550C>A (p.Gly850=)
c.2580C>A (p.Gly860=)
c.2577C>A (p.Gly859=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56894562C=CA2224361223SLC12A3c.2553C= (p.Gly851=)
c.2550C= (p.Gly850=)
c.2580C= (p.Gly860=)
c.2577C= (p.Gly859=)
16g.56894562C>GCA495612750SLC12A3c.2553C>G (p.Gly851=)
c.2550C>G (p.Gly850=)
c.2580C>G (p.Gly860=)
c.2577C>G (p.Gly859=)
16g.56894562C>TCA495612751SLC12A3c.2553C>T (p.Gly851=)
c.2550C>T (p.Gly850=)
c.2580C>T (p.Gly860=)
c.2577C>T (p.Gly859=)
16g.56894563C>ACA395997358SLC12A3c.2554C>A (p.Arg852Ser)
c.2551C>A (p.Arg851Ser)
c.2581C>A (p.Arg861Ser)
c.2578C>A (p.Arg860Ser)
 dbSNP
16g.56894563C=CA2224361224SLC12A3c.2554C= (p.Arg852=)
c.2551C= (p.Arg851=)
c.2581C= (p.Arg861=)
c.2578C= (p.Arg860=)
16g.56894563C>GCA395997362SLC12A3c.2554C>G (p.Arg852Gly)
c.2551C>G (p.Arg851Gly)
c.2581C>G (p.Arg861Gly)
c.2578C>G (p.Arg860Gly)
16g.56894563C>TCA8069966SLC12A3c.2554C>T (p.Arg852Cys)
c.2551C>T (p.Arg851Cys)
c.2581C>T (p.Arg861Cys)
c.2578C>T (p.Arg860Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894564G>ACA8069967SLC12A3c.2555G>A (p.Arg852His)
c.2552G>A (p.Arg851His)
c.2582G>A (p.Arg861His)
c.2579G>A (p.Arg860His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894564G>CCA395997375SLC12A3c.2555G>C (p.Arg852Pro)
c.2552G>C (p.Arg851Pro)
c.2582G>C (p.Arg861Pro)
c.2579G>C (p.Arg860Pro)
16g.56894564G=CA2224361225SLC12A3c.2555G= (p.Arg852=)
c.2552G= (p.Arg851=)
c.2582G= (p.Arg861=)
c.2579G= (p.Arg860=)
16g.56894564G>TCA395997370SLC12A3c.2555G>T (p.Arg852Leu)
c.2552G>T (p.Arg851Leu)
c.2582G>T (p.Arg861Leu)
c.2579G>T (p.Arg860Leu)
 dbSNP gnomAD v4
16g.56894565C>ACA495612752SLC12A3c.2556C>A (p.Arg852=)
c.2553C>A (p.Arg851=)
c.2583C>A (p.Arg861=)
c.2580C>A (p.Arg860=)
 gnomAD v4
16g.56894565C>GCA495612753SLC12A3c.2556C>G (p.Arg852=)
c.2553C>G (p.Arg851=)
c.2583C>G (p.Arg861=)
c.2580C>G (p.Arg860=)
16g.56894565C>TCA495612754SLC12A3c.2556C>T (p.Arg852=)
c.2553C>T (p.Arg851=)
c.2583C>T (p.Arg861=)
c.2580C>T (p.Arg860=)
16g.56894566A=CA2224361226SLC12A3c.2557A= (p.Lys853=)
c.2554A= (p.Lys852=)
c.2584A= (p.Lys862=)
c.2581A= (p.Lys861=)
16g.56894566A>CCA395997377SLC12A3c.2557A>C (p.Lys853Gln)
c.2554A>C (p.Lys852Gln)
c.2584A>C (p.Lys862Gln)
c.2581A>C (p.Lys861Gln)
16g.56894566A>GCA395997379SLC12A3c.2557A>G (p.Lys853Glu)
c.2554A>G (p.Lys852Glu)
c.2584A>G (p.Lys862Glu)
c.2581A>G (p.Lys861Glu)
 dbSNP gnomAD v4
16g.56894566A>TCA395997381SLC12A3c.2557A>T (p.Lys853Ter)
c.2554A>T (p.Lys852Ter)
c.2584A>T (p.Lys862Ter)
c.2581A>T (p.Lys861Ter)
16g.56894567A>CCA395997383SLC12A3c.2558A>C (p.Lys853Thr)
c.2555A>C (p.Lys852Thr)
c.2585A>C (p.Lys862Thr)
c.2582A>C (p.Lys861Thr)
16g.56894567A>GCA395997386SLC12A3c.2558A>G (p.Lys853Arg)
c.2555A>G (p.Lys852Arg)
c.2585A>G (p.Lys862Arg)
c.2582A>G (p.Lys861Arg)
16g.56894567A>TCA395997388SLC12A3c.2558A>T (p.Lys853Met)
c.2555A>T (p.Lys852Met)
c.2585A>T (p.Lys862Met)
c.2582A>T (p.Lys861Met)
16g.56894568G>ACA8069968SLC12A3c.2559G>A (p.Lys853=)
c.2556G>A (p.Lys852=)
c.2586G>A (p.Lys862=)
c.2583G>A (p.Lys861=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894568G>CCA395997393SLC12A3c.2559G>C (p.Lys853Asn)
c.2556G>C (p.Lys852Asn)
c.2586G>C (p.Lys862Asn)
c.2583G>C (p.Lys861Asn)
16g.56894568G=CA2224361227SLC12A3c.2559G= (p.Lys853=)
c.2556G= (p.Lys852=)
c.2586G= (p.Lys862=)
c.2583G= (p.Lys861=)
16g.56894568G>TCA395997396SLC12A3c.2559G>T (p.Lys853Asn)
c.2556G>T (p.Lys852Asn)
c.2586G>T (p.Lys862Asn)
c.2583G>T (p.Lys861Asn)
16g.56894569A=CA2224361228SLC12A3c.2560A= (p.Arg854=)
c.2557A= (p.Arg853=)
c.2587A= (p.Arg863=)
c.2584A= (p.Arg862=)
16g.56894569A>CCA495612755SLC12A3c.2560A>C (p.Arg854=)
c.2557A>C (p.Arg853=)
c.2587A>C (p.Arg863=)
c.2584A>C (p.Arg862=)
16g.56894569A>GCA395997399SLC12A3c.2560A>G (p.Arg854Gly)
c.2557A>G (p.Arg853Gly)
c.2587A>G (p.Arg863Gly)
c.2584A>G (p.Arg862Gly)
 dbSNP gnomAD v3 gnomAD v4
16g.56894569A>TCA395997402SLC12A3c.2560A>T (p.Arg854Trp)
c.2557A>T (p.Arg853Trp)
c.2587A>T (p.Arg863Trp)
c.2584A>T (p.Arg862Trp)
16g.56894570G>ACA281514318SLC12A3c.2561G>A (p.Arg854Lys)
c.2558G>A (p.Arg853Lys)
c.2588G>A (p.Arg863Lys)
c.2585G>A (p.Arg862Lys)
 dbSNP
16g.56894570G>CCA395997408SLC12A3c.2561G>C (p.Arg854Thr)
c.2558G>C (p.Arg853Thr)
c.2588G>C (p.Arg863Thr)
c.2585G>C (p.Arg862Thr)
16g.56894570G=CA2224361229SLC12A3c.2561G= (p.Arg854=)
c.2558G= (p.Arg853=)
c.2588G= (p.Arg863=)
c.2585G= (p.Arg862=)
16g.56894570G>TCA395997406SLC12A3c.2561G>T (p.Arg854Met)
c.2558G>T (p.Arg853Met)
c.2588G>T (p.Arg863Met)
c.2585G>T (p.Arg862Met)
16g.56894571G>ACA495612756SLC12A3c.2562G>A (p.Arg854=)
c.2559G>A (p.Arg853=)
c.2589G>A (p.Arg863=)
c.2586G>A (p.Arg862=)
 ClinVar dbSNP
16g.56894571G>CCA395997409SLC12A3c.2562G>C (p.Arg854Ser)
c.2559G>C (p.Arg853Ser)
c.2589G>C (p.Arg863Ser)
c.2586G>C (p.Arg862Ser)
16g.56894571G=CA2224361230SLC12A3c.2562G= (p.Arg854=)
c.2559G= (p.Arg853=)
c.2589G= (p.Arg863=)
c.2586G= (p.Arg862=)
16g.56894571G>TCA395997410SLC12A3c.2562G>T (p.Arg854Ser)
c.2559G>T (p.Arg853Ser)
c.2589G>T (p.Arg863Ser)
c.2586G>T (p.Arg862Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56894572A=CA2224361231SLC12A3c.2563A= (p.Arg855=)
c.2560A= (p.Arg854=)
c.2590A= (p.Arg864=)
c.2587A= (p.Arg863=)
16g.56894572A>CCA495612757SLC12A3c.2563A>C (p.Arg855=)
c.2560A>C (p.Arg854=)
c.2590A>C (p.Arg864=)
c.2587A>C (p.Arg863=)
 ClinVar dbSNP
16g.56894572A>GCA281514326SLC12A3c.2563A>G (p.Arg855Gly)
c.2560A>G (p.Arg854Gly)
c.2590A>G (p.Arg864Gly)
c.2587A>G (p.Arg863Gly)
 dbSNP gnomAD v3 gnomAD v4
16g.56894572A>TCA395997411SLC12A3c.2563A>T (p.Arg855Trp)
c.2560A>T (p.Arg854Trp)
c.2590A>T (p.Arg864Trp)
c.2587A>T (p.Arg863Trp)
16g.56894573G>ACA8069969SLC12A3c.2564G>A (p.Arg855Lys)
c.2561G>A (p.Arg854Lys)
c.2591G>A (p.Arg864Lys)
c.2588G>A (p.Arg863Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894573G>CCA395997413SLC12A3c.2564G>C (p.Arg855Thr)
c.2561G>C (p.Arg854Thr)
c.2591G>C (p.Arg864Thr)
c.2588G>C (p.Arg863Thr)
16g.56894573G=CA2224361232SLC12A3c.2564G= (p.Arg855=)
c.2561G= (p.Arg854=)
c.2591G= (p.Arg864=)
c.2588G= (p.Arg863=)
16g.56894573G>TCA395997414SLC12A3c.2564G>T (p.Arg855Met)
c.2561G>T (p.Arg854Met)
c.2591G>T (p.Arg864Met)
c.2588G>T (p.Arg863Met)
16g.56894574G>ACA495612758SLC12A3c.2565G>A (p.Arg855=)
c.2562G>A (p.Arg854=)
c.2592G>A (p.Arg864=)
c.2589G>A (p.Arg863=)
 gnomAD v4
16g.56894574G>CCA395997416SLC12A3c.2565G>C (p.Arg855Ser)
c.2562G>C (p.Arg854Ser)
c.2592G>C (p.Arg864Ser)
c.2589G>C (p.Arg863Ser)
16g.56894574G>TCA395997417SLC12A3c.2565G>T (p.Arg855Ser)
c.2562G>T (p.Arg854Ser)
c.2592G>T (p.Arg864Ser)
c.2589G>T (p.Arg863Ser)
16g.56894575T>ACA395997418SLC12A3c.2566T>A (p.Trp856Arg)
c.2563T>A (p.Trp855Arg)
c.2593T>A (p.Trp865Arg)
c.2590T>A (p.Trp864Arg)
16g.56894575T>CCA395997419SLC12A3c.2566T>C (p.Trp856Arg)
c.2563T>C (p.Trp855Arg)
c.2593T>C (p.Trp865Arg)
c.2590T>C (p.Trp864Arg)
16g.56894575T>GCA395997420SLC12A3c.2566T>G (p.Trp856Gly)
c.2563T>G (p.Trp855Gly)
c.2593T>G (p.Trp865Gly)
c.2590T>G (p.Trp864Gly)
16g.56894576G>ACA395997421SLC12A3c.2567G>A (p.Trp856Ter)
c.2564G>A (p.Trp855Ter)
c.2594G>A (p.Trp865Ter)
c.2591G>A (p.Trp864Ter)
16g.56894576G>CCA395997423SLC12A3c.2567G>C (p.Trp856Ser)
c.2564G>C (p.Trp855Ser)
c.2594G>C (p.Trp865Ser)
c.2591G>C (p.Trp864Ser)
16g.56894576G>TCA395997425SLC12A3c.2567G>T (p.Trp856Leu)
c.2564G>T (p.Trp855Leu)
c.2594G>T (p.Trp865Leu)
c.2591G>T (p.Trp864Leu)
16g.56894577G>ACA395997432SLC12A3c.2568G>A (p.Trp856Ter)
c.2565G>A (p.Trp855Ter)
c.2595G>A (p.Trp865Ter)
c.2592G>A (p.Trp864Ter)
16g.56894577G>CCA395997427SLC12A3c.2568G>C (p.Trp856Cys)
c.2565G>C (p.Trp855Cys)
c.2595G>C (p.Trp865Cys)
c.2592G>C (p.Trp864Cys)
16g.56894577G>TCA395997429SLC12A3c.2568G>T (p.Trp856Cys)
c.2565G>T (p.Trp855Cys)
c.2595G>T (p.Trp865Cys)
c.2592G>T (p.Trp864Cys)
16g.56894578A>CCA395997434SLC12A3c.2569A>C (p.Ser857Arg)
c.2566A>C (p.Ser856Arg)
c.2596A>C (p.Ser866Arg)
c.2593A>C (p.Ser865Arg)
16g.56894578A>GCA395997438SLC12A3c.2569A>G (p.Ser857Gly)
c.2566A>G (p.Ser856Gly)
c.2596A>G (p.Ser866Gly)
c.2593A>G (p.Ser865Gly)
16g.56894578A>TCA395997441SLC12A3c.2569A>T (p.Ser857Cys)
c.2566A>T (p.Ser856Cys)
c.2596A>T (p.Ser866Cys)
c.2593A>T (p.Ser865Cys)
16g.56894579G>ACA395997442SLC12A3c.2570G>A (p.Ser857Asn)
c.2567G>A (p.Ser856Asn)
c.2597G>A (p.Ser866Asn)
c.2594G>A (p.Ser865Asn)
 dbSNP gnomAD v3 gnomAD v4
16g.56894579G>CCA395997445SLC12A3c.2570G>C (p.Ser857Thr)
c.2567G>C (p.Ser856Thr)
c.2597G>C (p.Ser866Thr)
c.2594G>C (p.Ser865Thr)
16g.56894579G=CA2224361233SLC12A3c.2570G= (p.Ser857=)
c.2567G= (p.Ser856=)
c.2597G= (p.Ser866=)
c.2594G= (p.Ser865=)
16g.56894579G>TCA395997450SLC12A3c.2570G>T (p.Ser857Ile)
c.2567G>T (p.Ser856Ile)
c.2597G>T (p.Ser866Ile)
c.2594G>T (p.Ser865Ile)
16g.56894580C>ACA395997451SLC12A3c.2571C>A (p.Ser857Arg)
c.2568C>A (p.Ser856Arg)
c.2598C>A (p.Ser866Arg)
c.2595C>A (p.Ser865Arg)
16g.56894580C>GCA395997454SLC12A3c.2571C>G (p.Ser857Arg)
c.2568C>G (p.Ser856Arg)
c.2598C>G (p.Ser866Arg)
c.2595C>G (p.Ser865Arg)
16g.56894580C>TCA495612759SLC12A3c.2571C>T (p.Ser857=)
c.2568C>T (p.Ser856=)
c.2598C>T (p.Ser866=)
c.2595C>T (p.Ser865=)
16g.56894581A>CCA395997456SLC12A3c.2572A>C (p.Lys858Gln)
c.2569A>C (p.Lys857Gln)
c.2599A>C (p.Lys867Gln)
c.2596A>C (p.Lys866Gln)
16g.56894581A>GCA395997459SLC12A3c.2572A>G (p.Lys858Glu)
c.2569A>G (p.Lys857Glu)
c.2599A>G (p.Lys867Glu)
c.2596A>G (p.Lys866Glu)
16g.56894581A>TCA395997461SLC12A3c.2572A>T (p.Lys858Ter)
c.2569A>T (p.Lys857Ter)
c.2599A>T (p.Lys867Ter)
c.2596A>T (p.Lys866Ter)
16g.56894582A>CCA395997474SLC12A3c.2573A>C (p.Lys858Thr)
c.2570A>C (p.Lys857Thr)
c.2600A>C (p.Lys867Thr)
c.2597A>C (p.Lys866Thr)
16g.56894582A>GCA395997470SLC12A3c.2573A>G (p.Lys858Arg)
c.2570A>G (p.Lys857Arg)
c.2600A>G (p.Lys867Arg)
c.2597A>G (p.Lys866Arg)
16g.56894582A>TCA395997462SLC12A3c.2573A>T (p.Lys858Ile)
c.2570A>T (p.Lys857Ile)
c.2600A>T (p.Lys867Ile)
c.2597A>T (p.Lys866Ile)
16g.56894583A>CCA395997477SLC12A3c.2574A>C (p.Lys858Asn)
c.2571A>C (p.Lys857Asn)
c.2601A>C (p.Lys867Asn)
c.2598A>C (p.Lys866Asn)
16g.56894583A>GCA495612760SLC12A3c.2574A>G (p.Lys858=)
c.2571A>G (p.Lys857=)
c.2601A>G (p.Lys867=)
c.2598A>G (p.Lys866=)
16g.56894583A>TCA395997479SLC12A3c.2574A>T (p.Lys858Asn)
c.2571A>T (p.Lys857Asn)
c.2601A>T (p.Lys867Asn)
c.2598A>T (p.Lys866Asn)
16g.56894584T>ACA395997486SLC12A3c.2575T>A (p.Cys859Ser)
c.2572T>A (p.Cys858Ser)
c.2602T>A (p.Cys868Ser)
c.2599T>A (p.Cys867Ser)
16g.56894584T>CCA395997488SLC12A3c.2575T>C (p.Cys859Arg)
c.2572T>C (p.Cys858Arg)
c.2602T>C (p.Cys868Arg)
c.2599T>C (p.Cys867Arg)
 gnomAD v4
16g.56894584T>GCA395997489SLC12A3c.2575T>G (p.Cys859Gly)
c.2572T>G (p.Cys858Gly)
c.2602T>G (p.Cys868Gly)
c.2599T>G (p.Cys867Gly)
16g.56894584_56894585delinsTGCA2224361234SLC12A3c.2575_2576delinsTG (p.Cys859=)
c.2572_2573delinsTG (p.Cys858=)
c.2602_2603delinsTG (p.Cys868=)
c.2599_2600delinsTG (p.Cys867=)
16g.56894585delCA658798606SLC12A3c.2576del (p.Cys859SerfsTer7)
c.2573del (p.Cys858SerfsTer7)
c.2603del (p.Cys868SerfsTer7)
c.2600del (p.Cys867SerfsTer7)
 ClinVar dbSNP
16g.56894585G>ACA395997491SLC12A3c.2576G>A (p.Cys859Tyr)
c.2573G>A (p.Cys858Tyr)
c.2603G>A (p.Cys868Tyr)
c.2600G>A (p.Cys867Tyr)
16g.56894585G>CCA395997493SLC12A3c.2576G>C (p.Cys859Ser)
c.2573G>C (p.Cys858Ser)
c.2603G>C (p.Cys868Ser)
c.2600G>C (p.Cys867Ser)
 dbSNP gnomAD v3 gnomAD v4
16g.56894585G=CA2224361235SLC12A3c.2576G= (p.Cys859=)
c.2573G= (p.Cys858=)
c.2603G= (p.Cys868=)
c.2600G= (p.Cys867=)
16g.56894585G>TCA395997495SLC12A3c.2576G>T (p.Cys859Phe)
c.2573G>T (p.Cys858Phe)
c.2603G>T (p.Cys868Phe)
c.2600G>T (p.Cys867Phe)
16g.56894586C>ACA395997497SLC12A3c.2577C>A (p.Cys859Ter)
c.2574C>A (p.Cys858Ter)
c.2604C>A (p.Cys868Ter)
c.2601C>A (p.Cys867Ter)
 ClinVar gnomAD v4
16g.56894586C>GCA395997499SLC12A3c.2577C>G (p.Cys859Trp)
c.2574C>G (p.Cys858Trp)
c.2604C>G (p.Cys868Trp)
c.2601C>G (p.Cys867Trp)
16g.56894586C>TCA495612761SLC12A3c.2577C>T (p.Cys859=)
c.2574C>T (p.Cys858=)
c.2604C>T (p.Cys868=)
c.2601C>T (p.Cys867=)
16g.56894587A=CA2224361236SLC12A3c.2578A= (p.Lys860=)
c.2575A= (p.Lys859=)
c.2605A= (p.Lys869=)
c.2602A= (p.Lys868=)
16g.56894587A>CCA395997500SLC12A3c.2578A>C (p.Lys860Gln)
c.2575A>C (p.Lys859Gln)
c.2605A>C (p.Lys869Gln)
c.2602A>C (p.Lys868Gln)
16g.56894587A>GCA8069970SLC12A3c.2578A>G (p.Lys860Glu)
c.2575A>G (p.Lys859Glu)
c.2605A>G (p.Lys869Glu)
c.2602A>G (p.Lys868Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894587A>TCA395997504SLC12A3c.2578A>T (p.Lys860Ter)
c.2575A>T (p.Lys859Ter)
c.2605A>T (p.Lys869Ter)
c.2602A>T (p.Lys868Ter)
16g.56894588A>CCA395997507SLC12A3c.2579A>C (p.Lys860Thr)
c.2576A>C (p.Lys859Thr)
c.2606A>C (p.Lys869Thr)
c.2603A>C (p.Lys868Thr)
16g.56894588A>GCA395997505SLC12A3c.2579A>G (p.Lys860Arg)
c.2576A>G (p.Lys859Arg)
c.2606A>G (p.Lys869Arg)
c.2603A>G (p.Lys868Arg)
16g.56894588A>TCA395997506SLC12A3c.2579A>T (p.Lys860Met)
c.2576A>T (p.Lys859Met)
c.2606A>T (p.Lys869Met)
c.2603A>T (p.Lys868Met)
16g.56894589G>ACA495612762SLC12A3c.2580G>A (p.Lys860=)
c.2577G>A (p.Lys859=)
c.2607G>A (p.Lys869=)
c.2604G>A (p.Lys868=)
 COSMIC
16g.56894589G>CCA395997508SLC12A3c.2580G>C (p.Lys860Asn)
c.2577G>C (p.Lys859Asn)
c.2607G>C (p.Lys869Asn)
c.2604G>C (p.Lys868Asn)
16g.56894589G>TCA395997509SLC12A3c.2580G>T (p.Lys860Asn)
c.2577G>T (p.Lys859Asn)
c.2607G>T (p.Lys869Asn)
c.2604G>T (p.Lys868Asn)
 COSMIC
16g.56894590A>CCA395997511SLC12A3c.2581A>C (p.Ile861Leu)
c.2578A>C (p.Ile860Leu)
c.2608A>C (p.Ile870Leu)
c.2605A>C (p.Ile869Leu)
16g.56894590A>GCA395997514SLC12A3c.2581A>G (p.Ile861Val)
c.2578A>G (p.Ile860Val)
c.2608A>G (p.Ile870Val)
c.2605A>G (p.Ile869Val)
16g.56894590A>TCA395997517SLC12A3c.2581A>T (p.Ile861Phe)
c.2578A>T (p.Ile860Phe)
c.2608A>T (p.Ile870Phe)
c.2605A>T (p.Ile869Phe)
16g.56894591T>ACA395997519SLC12A3c.2582T>A (p.Ile861Asn)
c.2579T>A (p.Ile860Asn)
c.2609T>A (p.Ile870Asn)
c.2606T>A (p.Ile869Asn)
16g.56894591T>CCA281514342SLC12A3c.2582T>C (p.Ile861Thr)
c.2579T>C (p.Ile860Thr)
c.2609T>C (p.Ile870Thr)
c.2606T>C (p.Ile869Thr)
 dbSNP gnomAD v2
16g.56894591T>GCA395997522SLC12A3c.2582T>G (p.Ile861Ser)
c.2579T>G (p.Ile860Ser)
c.2609T>G (p.Ile870Ser)
c.2606T>G (p.Ile869Ser)
16g.56894591T=CA2224361237SLC12A3c.2582T= (p.Ile861=)
c.2579T= (p.Ile860=)
c.2609T= (p.Ile870=)
c.2606T= (p.Ile869=)
16g.56894592C>ACA495612764SLC12A3c.2583C>A (p.Ile861=)
c.2580C>A (p.Ile860=)
c.2610C>A (p.Ile870=)
c.2607C>A (p.Ile869=)
16g.56894592C=CA2224361238SLC12A3c.2583C= (p.Ile861=)
c.2580C= (p.Ile860=)
c.2610C= (p.Ile870=)
c.2607C= (p.Ile869=)
16g.56894592C>GCA395997524SLC12A3c.2583C>G (p.Ile861Met)
c.2580C>G (p.Ile860Met)
c.2610C>G (p.Ile870Met)
c.2607C>G (p.Ile869Met)
16g.56894592C>TCA495612763SLC12A3c.2583C>T (p.Ile861=)
c.2580C>T (p.Ile860=)
c.2610C>T (p.Ile870=)
c.2607C>T (p.Ile869=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56894593C>ACA395997528SLC12A3c.2584C>A (p.Arg862Ser)
c.2581C>A (p.Arg861Ser)
c.2611C>A (p.Arg871Ser)
c.2608C>A (p.Arg870Ser)
16g.56894593C=CA2224361239SLC12A3c.2584C= (p.Arg862=)
c.2581C= (p.Arg861=)
c.2611C= (p.Arg871=)
c.2608C= (p.Arg870=)
16g.56894593C>GCA395997533SLC12A3c.2584C>G (p.Arg862Gly)
c.2581C>G (p.Arg861Gly)
c.2611C>G (p.Arg871Gly)
c.2608C>G (p.Arg870Gly)
16g.56894593C>TCA8069971SLC12A3c.2584C>T (p.Arg862Cys)
c.2581C>T (p.Arg861Cys)
c.2611C>T (p.Arg871Cys)
c.2608C>T (p.Arg870Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.56894594G>ACA032037SLC12A3c.2585G>A (p.Arg862His)
c.2582G>A (p.Arg861His)
c.2612G>A (p.Arg871His)
c.2609G>A (p.Arg870His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894594G>CCA395997540SLC12A3c.2585G>C (p.Arg862Pro)
c.2582G>C (p.Arg861Pro)
c.2612G>C (p.Arg871Pro)
c.2609G>C (p.Arg870Pro)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56894594G=CA2224361240SLC12A3c.2585G= (p.Arg862=)
c.2582G= (p.Arg861=)
c.2612G= (p.Arg871=)
c.2609G= (p.Arg870=)
16g.56894594G>TCA395997539SLC12A3c.2585G>T (p.Arg862Leu)
c.2582G>T (p.Arg861Leu)
c.2612G>T (p.Arg871Leu)
c.2609G>T (p.Arg870Leu)
 dbSNP
16g.56894598_56894599dupCA2807154324SLC12A3c.2589_2590dup (p.Phe864CysfsTer3)
c.2586_2587dup (p.Phe863CysfsTer3)
c.2616_2617dup (p.Phe873CysfsTer3)
c.2613_2614dup (p.Phe872CysfsTer3)
16g.56894595T>ACA495612765SLC12A3c.2586T>A (p.Arg862=)
c.2583T>A (p.Arg861=)
c.2613T>A (p.Arg871=)
c.2610T>A (p.Arg870=)
 gnomAD v4
16g.56894595T>CCA495612766SLC12A3c.2586T>C (p.Arg862=)
c.2583T>C (p.Arg861=)
c.2613T>C (p.Arg871=)
c.2610T>C (p.Arg870=)
16g.56894595T>GCA495612767SLC12A3c.2586T>G (p.Arg862=)
c.2583T>G (p.Arg861=)
c.2613T>G (p.Arg871=)
c.2610T>G (p.Arg870=)
16g.56894596G>ACA8069972SLC12A3c.2587G>A (p.Val863Met)
c.2584G>A (p.Val862Met)
c.2614G>A (p.Val872Met)
c.2611G>A (p.Val871Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894596G>CCA395997542SLC12A3c.2587G>C (p.Val863Leu)
c.2584G>C (p.Val862Leu)
c.2614G>C (p.Val872Leu)
c.2611G>C (p.Val871Leu)
16g.56894596G=CA2224361241SLC12A3c.2587G= (p.Val863=)
c.2584G= (p.Val862=)
c.2614G= (p.Val872=)
c.2611G= (p.Val871=)
16g.56894596G>TCA395997541SLC12A3c.2587G>T (p.Val863Leu)
c.2584G>T (p.Val862Leu)
c.2614G>T (p.Val872Leu)
c.2611G>T (p.Val871Leu)
16g.56894597T>ACA395997543SLC12A3c.2588T>A (p.Val863Glu)
c.2585T>A (p.Val862Glu)
c.2615T>A (p.Val872Glu)
c.2612T>A (p.Val871Glu)
 dbSNP gnomAD v2 gnomAD v4
16g.56894597T>CCA395997545SLC12A3c.2588T>C (p.Val863Ala)
c.2585T>C (p.Val862Ala)
c.2615T>C (p.Val872Ala)
c.2612T>C (p.Val871Ala)
16g.56894597T>GCA395997546SLC12A3c.2588T>G (p.Val863Gly)
c.2585T>G (p.Val862Gly)
c.2615T>G (p.Val872Gly)
c.2612T>G (p.Val871Gly)
16g.56894597T=CA2224361242SLC12A3c.2588T= (p.Val863=)
c.2585T= (p.Val862=)
c.2615T= (p.Val872=)
c.2612T= (p.Val871=)
16g.56894598G>ACA495612768SLC12A3c.2589G>A (p.Val863=)
c.2586G>A (p.Val862=)
c.2616G>A (p.Val872=)
c.2613G>A (p.Val871=)
 gnomAD v4
16g.56894598G>CCA495612769SLC12A3c.2589G>C (p.Val863=)
c.2586G>C (p.Val862=)
c.2616G>C (p.Val872=)
c.2613G>C (p.Val871=)
16g.56894598G>TCA495612770SLC12A3c.2589G>T (p.Val863=)
c.2586G>T (p.Val862=)
c.2616G>T (p.Val872=)
c.2613G>T (p.Val871=)
16g.56894599T>ACA395997549SLC12A3c.2590T>A (p.Phe864Ile)
c.2587T>A (p.Phe863Ile)
c.2617T>A (p.Phe873Ile)
c.2614T>A (p.Phe872Ile)
16g.56894599T>CCA395997550SLC12A3c.2590T>C (p.Phe864Leu)
c.2587T>C (p.Phe863Leu)
c.2617T>C (p.Phe873Leu)
c.2614T>C (p.Phe872Leu)
16g.56894599T>GCA395997551SLC12A3c.2590T>G (p.Phe864Val)
c.2587T>G (p.Phe863Val)
c.2617T>G (p.Phe873Val)
c.2614T>G (p.Phe872Val)
16g.56894600T>ACA395997558SLC12A3c.2591T>A (p.Phe864Tyr)
c.2588T>A (p.Phe863Tyr)
c.2618T>A (p.Phe873Tyr)
c.2615T>A (p.Phe872Tyr)
16g.56894600T>CCA395997556SLC12A3c.2591T>C (p.Phe864Ser)
c.2588T>C (p.Phe863Ser)
c.2618T>C (p.Phe873Ser)
c.2615T>C (p.Phe872Ser)
16g.56894600T>GCA395997553SLC12A3c.2591T>G (p.Phe864Cys)
c.2588T>G (p.Phe863Cys)
c.2618T>G (p.Phe873Cys)
c.2615T>G (p.Phe872Cys)
16g.56894601C>ACA395997560SLC12A3c.2592C>A (p.Phe864Leu)
c.2589C>A (p.Phe863Leu)
c.2619C>A (p.Phe873Leu)
c.2616C>A (p.Phe872Leu)
16g.56894601C=CA2224361243SLC12A3c.2592C= (p.Phe864=)
c.2589C= (p.Phe863=)
c.2619C= (p.Phe873=)
c.2616C= (p.Phe872=)
16g.56894601C>GCA395997561SLC12A3c.2592C>G (p.Phe864Leu)
c.2589C>G (p.Phe863Leu)
c.2619C>G (p.Phe873Leu)
c.2616C>G (p.Phe872Leu)
16g.56894601C>TCA8069973SLC12A3c.2592C>T (p.Phe864=)
c.2589C>T (p.Phe863=)
c.2619C>T (p.Phe873=)
c.2616C>T (p.Phe872=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56894601_56894602delinsCGCA2224361244SLC12A3c.2592_2593delinsCG (p.Phe864=)
c.2589_2590delinsCG (p.Phe863=)
c.2619_2620delinsCG (p.Phe873=)
c.2616_2617delinsCG (p.Phe872=)
16g.56894603_56894608dupCA2633374480SLC12A3c.2594_2599dup (p.Gly866_Gly867insValGly)
c.2591_2596dup (p.Gly865_Gly866insValGly)
c.2621_2626dup (p.Gly875_Gly876insValGly)
c.2618_2623dup (p.Gly874_Gly875insValGly)
 gnomAD v4
16g.56894602delCA2224361245SLC12A3c.2593del (p.Val865Ter)
c.2590del (p.Val864Ter)
c.2620del (p.Val874Ter)
c.2617del (p.Val873Ter)
 dbSNP
16g.56894602G>ACA8069974SLC12A3c.2593G>A (p.Val865Ile)
c.2590G>A (p.Val864Ile)
c.2620G>A (p.Val874Ile)
c.2617G>A (p.Val873Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894602G>CCA281514374SLC12A3c.2593G>C (p.Val865Leu)
c.2590G>C (p.Val864Leu)
c.2620G>C (p.Val874Leu)
c.2617G>C (p.Val873Leu)
 dbSNP
16g.56894602G=CA2224361246SLC12A3c.2593G= (p.Val865=)
c.2590G= (p.Val864=)
c.2620G= (p.Val874=)
c.2617G= (p.Val873=)
16g.56894602G>TCA395997569SLC12A3c.2593G>T (p.Val865Leu)
c.2590G>T (p.Val864Leu)
c.2620G>T (p.Val874Leu)
c.2617G>T (p.Val873Leu)

Number of alleles fetched