Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
16g.56894603T>ACA395997572SLC12A3c.2594T>A (p.Val865Glu)
c.2591T>A (p.Val864Glu)
c.2621T>A (p.Val874Glu)
c.2618T>A (p.Val873Glu)
16g.56894603T>CCA8069975SLC12A3c.2594T>C (p.Val865Ala)
c.2591T>C (p.Val864Ala)
c.2621T>C (p.Val874Ala)
c.2618T>C (p.Val873Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894603T>GCA281514375SLC12A3c.2594T>G (p.Val865Gly)
c.2591T>G (p.Val864Gly)
c.2621T>G (p.Val874Gly)
c.2618T>G (p.Val873Gly)
 dbSNP gnomAD v4
16g.56894603T=CA2224361247SLC12A3c.2594T= (p.Val865=)
c.2591T= (p.Val864=)
c.2621T= (p.Val874=)
c.2618T= (p.Val873=)
16g.56894604delCA2739266781SLC12A3c.2595del (p.Gly866AlafsTer18)
c.2592del (p.Gly865AlafsTer18)
c.2622del (p.Gly875AlafsTer18)
c.2619del (p.Gly874AlafsTer18)
 ClinVar
16g.56894604A=CA2224361248SLC12A3c.2595A= (p.Val865=)
c.2592A= (p.Val864=)
c.2622A= (p.Val874=)
c.2619A= (p.Val873=)
16g.56894604A>CCA8069976SLC12A3c.2595A>C (p.Val865=)
c.2592A>C (p.Val864=)
c.2622A>C (p.Val874=)
c.2619A>C (p.Val873=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894604A>GCA495612771SLC12A3c.2595A>G (p.Val865=)
c.2592A>G (p.Val864=)
c.2622A>G (p.Val874=)
c.2619A>G (p.Val873=)
 ClinVar
16g.56894604A>TCA495612772SLC12A3c.2595A>T (p.Val865=)
c.2592A>T (p.Val864=)
c.2622A>T (p.Val874=)
c.2619A>T (p.Val873=)
16g.56894605G>ACA395997582SLC12A3c.2596G>A (p.Gly866Ser)
c.2593G>A (p.Gly865Ser)
c.2623G>A (p.Gly875Ser)
c.2620G>A (p.Gly874Ser)
 COSMIC
16g.56894605G>CCA395997584SLC12A3c.2596G>C (p.Gly866Arg)
c.2593G>C (p.Gly865Arg)
c.2623G>C (p.Gly875Arg)
c.2620G>C (p.Gly874Arg)
16g.56894605G>TCA395997587SLC12A3c.2596G>T (p.Gly866Cys)
c.2593G>T (p.Gly865Cys)
c.2623G>T (p.Gly875Cys)
c.2620G>T (p.Gly874Cys)
16g.56894606G>ACA395997589SLC12A3c.2597G>A (p.Gly866Asp)
c.2594G>A (p.Gly865Asp)
c.2624G>A (p.Gly875Asp)
c.2621G>A (p.Gly874Asp)
16g.56894606G>CCA395997591SLC12A3c.2597G>C (p.Gly866Ala)
c.2594G>C (p.Gly865Ala)
c.2624G>C (p.Gly875Ala)
c.2621G>C (p.Gly874Ala)
16g.56894606G>TCA395997592SLC12A3c.2597G>T (p.Gly866Val)
c.2594G>T (p.Gly865Val)
c.2624G>T (p.Gly875Val)
c.2621G>T (p.Gly874Val)
16g.56894607C>ACA495612774SLC12A3c.2598C>A (p.Gly866=)
c.2595C>A (p.Gly865=)
c.2625C>A (p.Gly875=)
c.2622C>A (p.Gly874=)
16g.56894607C=CA2224361249SLC12A3c.2598C= (p.Gly866=)
c.2595C= (p.Gly865=)
c.2625C= (p.Gly875=)
c.2622C= (p.Gly874=)
16g.56894607C>GCA495612773SLC12A3c.2598C>G (p.Gly866=)
c.2595C>G (p.Gly865=)
c.2625C>G (p.Gly875=)
c.2622C>G (p.Gly874=)
16g.56894607C>TCA8069977SLC12A3c.2598C>T (p.Gly866=)
c.2595C>T (p.Gly865=)
c.2625C>T (p.Gly875=)
c.2622C>T (p.Gly874=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894607_56894608delinsTACA2740093387SLC12A3c.2598_2599delinsTA (p.Gly867Ser)
c.2595_2596delinsTA (p.Gly866Ser)
c.2625_2626delinsTA (p.Gly876Ser)
c.2622_2623delinsTA (p.Gly875Ser)
 ClinVar
16g.56894608G>ACA8069978SLC12A3c.2599G>A (p.Gly867Ser)
c.2596G>A (p.Gly866Ser)
c.2626G>A (p.Gly876Ser)
c.2623G>A (p.Gly875Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16g.56894608G>CCA395997596SLC12A3c.2599G>C (p.Gly867Arg)
c.2596G>C (p.Gly866Arg)
c.2626G>C (p.Gly876Arg)
c.2623G>C (p.Gly875Arg)
16g.56894608G=CA2224361250SLC12A3c.2599G= (p.Gly867=)
c.2596G= (p.Gly866=)
c.2626G= (p.Gly876=)
c.2623G= (p.Gly875=)
16g.56894608G>TCA395997598SLC12A3c.2599G>T (p.Gly867Cys)
c.2596G>T (p.Gly866Cys)
c.2626G>T (p.Gly876Cys)
c.2623G>T (p.Gly875Cys)
 gnomAD v4
16g.56894609G>ACA395997600SLC12A3c.2600G>A (p.Gly867Asp)
c.2597G>A (p.Gly866Asp)
c.2627G>A (p.Gly876Asp)
c.2624G>A (p.Gly875Asp)
16g.56894609G>CCA395997605SLC12A3c.2600G>C (p.Gly867Ala)
c.2597G>C (p.Gly866Ala)
c.2627G>C (p.Gly876Ala)
c.2624G>C (p.Gly875Ala)
16g.56894609G>TCA395997602SLC12A3c.2600G>T (p.Gly867Val)
c.2597G>T (p.Gly866Val)
c.2627G>T (p.Gly876Val)
c.2624G>T (p.Gly875Val)
16g.56894610C>ACA495612777SLC12A3c.2601C>A (p.Gly867=)
c.2598C>A (p.Gly866=)
c.2628C>A (p.Gly876=)
c.2625C>A (p.Gly875=)
16g.56894610C>GCA495612776SLC12A3c.2601C>G (p.Gly867=)
c.2598C>G (p.Gly866=)
c.2628C>G (p.Gly876=)
c.2625C>G (p.Gly875=)
16g.56894610C>TCA495612775SLC12A3c.2601C>T (p.Gly867=)
c.2598C>T (p.Gly866=)
c.2628C>T (p.Gly876=)
c.2625C>T (p.Gly875=)
 gnomAD v4
16g.56894611C>ACA395997607SLC12A3c.2602C>A (p.Gln868Lys)
c.2599C>A (p.Gln867Lys)
c.2629C>A (p.Gln877Lys)
c.2626C>A (p.Gln876Lys)
16g.56894611C>GCA395997609SLC12A3c.2602C>G (p.Gln868Glu)
c.2599C>G (p.Gln867Glu)
c.2629C>G (p.Gln877Glu)
c.2626C>G (p.Gln876Glu)
16g.56894611C>TCA395997611SLC12A3c.2602C>T (p.Gln868Ter)
c.2599C>T (p.Gln867Ter)
c.2629C>T (p.Gln877Ter)
c.2626C>T (p.Gln876Ter)
 COSMIC
16g.56894612A=CA2224361251SLC12A3c.2603A= (p.Gln868=)
c.2600A= (p.Gln867=)
c.2630A= (p.Gln877=)
c.2627A= (p.Gln876=)
16g.56894612A>CCA395997614SLC12A3c.2603A>C (p.Gln868Pro)
c.2600A>C (p.Gln867Pro)
c.2630A>C (p.Gln877Pro)
c.2627A>C (p.Gln876Pro)
16g.56894612A>GCA395997616SLC12A3c.2603A>G (p.Gln868Arg)
c.2600A>G (p.Gln867Arg)
c.2630A>G (p.Gln877Arg)
c.2627A>G (p.Gln876Arg)
 ClinVar dbSNP
16g.56894612A>TCA395997618SLC12A3c.2603A>T (p.Gln868Leu)
c.2600A>T (p.Gln867Leu)
c.2630A>T (p.Gln877Leu)
c.2627A>T (p.Gln876Leu)
16g.56894613G>ACA495612778SLC12A3c.2604G>A (p.Gln868=)
c.2601G>A (p.Gln867=)
c.2631G>A (p.Gln877=)
c.2628G>A (p.Gln876=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56894613G>CCA395997621SLC12A3c.2604G>C (p.Gln868His)
c.2601G>C (p.Gln867His)
c.2631G>C (p.Gln877His)
c.2628G>C (p.Gln876His)
16g.56894613G=CA2224361252SLC12A3c.2604G= (p.Gln868=)
c.2601G= (p.Gln867=)
c.2631G= (p.Gln877=)
c.2628G= (p.Gln876=)
16g.56894613G>TCA8069979SLC12A3c.2604G>T (p.Gln868His)
c.2601G>T (p.Gln867His)
c.2631G>T (p.Gln877His)
c.2628G>T (p.Gln876His)
 dbSNP ExAC
16g.56894614A>CCA395997625SLC12A3c.2605A>C (p.Ile869Leu)
c.2602A>C (p.Ile868Leu)
c.2632A>C (p.Ile878Leu)
c.2629A>C (p.Ile877Leu)
16g.56894614A>GCA395997628SLC12A3c.2605A>G (p.Ile869Val)
c.2602A>G (p.Ile868Val)
c.2632A>G (p.Ile878Val)
c.2629A>G (p.Ile877Val)
16g.56894614A>TCA395997630SLC12A3c.2605A>T (p.Ile869Phe)
c.2602A>T (p.Ile868Phe)
c.2632A>T (p.Ile878Phe)
c.2629A>T (p.Ile877Phe)
16g.56894615T>ACA395997637SLC12A3c.2606T>A (p.Ile869Asn)
c.2603T>A (p.Ile868Asn)
c.2633T>A (p.Ile878Asn)
c.2630T>A (p.Ile877Asn)
16g.56894615T>CCA395997635SLC12A3c.2606T>C (p.Ile869Thr)
c.2603T>C (p.Ile868Thr)
c.2633T>C (p.Ile878Thr)
c.2630T>C (p.Ile877Thr)
16g.56894615T>GCA395997634SLC12A3c.2606T>G (p.Ile869Ser)
c.2603T>G (p.Ile868Ser)
c.2633T>G (p.Ile878Ser)
c.2630T>G (p.Ile877Ser)
16g.56894616T>ACA495612779SLC12A3c.2607T>A (p.Ile869=)
c.2604T>A (p.Ile868=)
c.2634T>A (p.Ile878=)
c.2631T>A (p.Ile877=)
16g.56894616T>CCA495612780SLC12A3c.2607T>C (p.Ile869=)
c.2604T>C (p.Ile868=)
c.2634T>C (p.Ile878=)
c.2631T>C (p.Ile877=)
 ClinVar dbSNP
16g.56894616T>GCA395997639SLC12A3c.2607T>G (p.Ile869Met)
c.2604T>G (p.Ile868Met)
c.2634T>G (p.Ile878Met)
c.2631T>G (p.Ile877Met)
16g.56894617A>CCA395997647SLC12A3c.2608A>C (p.Asn870His)
c.2605A>C (p.Asn869His)
c.2635A>C (p.Asn879His)
c.2632A>C (p.Asn878His)
16g.56894617A>GCA395997649SLC12A3c.2608A>G (p.Asn870Asp)
c.2605A>G (p.Asn869Asp)
c.2635A>G (p.Asn879Asp)
c.2632A>G (p.Asn878Asp)
 gnomAD v4
16g.56894617A>TCA395997650SLC12A3c.2608A>T (p.Asn870Tyr)
c.2605A>T (p.Asn869Tyr)
c.2635A>T (p.Asn879Tyr)
c.2632A>T (p.Asn878Tyr)
16g.56894618A=CA2224361253SLC12A3c.2609A= (p.Asn870=)
c.2606A= (p.Asn869=)
c.2636A= (p.Asn879=)
c.2633A= (p.Asn878=)
16g.56894618A>CCA395997651SLC12A3c.2609A>C (p.Asn870Thr)
c.2606A>C (p.Asn869Thr)
c.2636A>C (p.Asn879Thr)
c.2633A>C (p.Asn878Thr)
16g.56894618A>GCA8069980SLC12A3c.2609A>G (p.Asn870Ser)
c.2606A>G (p.Asn869Ser)
c.2636A>G (p.Asn879Ser)
c.2633A>G (p.Asn878Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894618A>TCA395997652SLC12A3c.2609A>T (p.Asn870Ile)
c.2606A>T (p.Asn869Ile)
c.2636A>T (p.Asn879Ile)
c.2633A>T (p.Asn878Ile)
16g.56894619C>ACA395997655SLC12A3c.2610C>A (p.Asn870Lys)
c.2607C>A (p.Asn869Lys)
c.2637C>A (p.Asn879Lys)
c.2634C>A (p.Asn878Lys)
16g.56894619C=CA2224361254SLC12A3c.2610C= (p.Asn870=)
c.2607C= (p.Asn869=)
c.2637C= (p.Asn879=)
c.2634C= (p.Asn878=)
16g.56894619C>GCA395997656SLC12A3c.2610C>G (p.Asn870Lys)
c.2607C>G (p.Asn869Lys)
c.2637C>G (p.Asn879Lys)
c.2634C>G (p.Asn878Lys)
16g.56894619C>TCA495612781SLC12A3c.2610C>T (p.Asn870=)
c.2607C>T (p.Asn869=)
c.2637C>T (p.Asn879=)
c.2634C>T (p.Asn878=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
16g.56894620A>CCA495612782SLC12A3c.2611A>C (p.Arg871=)
c.2608A>C (p.Arg870=)
c.2638A>C (p.Arg880=)
c.2635A>C (p.Arg879=)
16g.56894620A>GCA395997658SLC12A3c.2611A>G (p.Arg871Gly)
c.2608A>G (p.Arg870Gly)
c.2638A>G (p.Arg880Gly)
c.2635A>G (p.Arg879Gly)
 gnomAD v4
16g.56894620A>TCA395997660SLC12A3c.2611A>T (p.Arg871Trp)
c.2608A>T (p.Arg870Trp)
c.2638A>T (p.Arg880Trp)
c.2635A>T (p.Arg879Trp)
16g.56894621G>ACA395997669SLC12A3c.2612G>A (p.Arg871Lys)
c.2609G>A (p.Arg870Lys)
c.2639G>A (p.Arg880Lys)
c.2636G>A (p.Arg879Lys)
 COSMIC
16g.56894621G>CCA8069981SLC12A3c.2612G>C (p.Arg871Thr)
c.2609G>C (p.Arg870Thr)
c.2639G>C (p.Arg880Thr)
c.2636G>C (p.Arg879Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894621G=CA2224361255SLC12A3c.2612G= (p.Arg871=)
c.2609G= (p.Arg870=)
c.2639G= (p.Arg880=)
c.2636G= (p.Arg879=)
16g.56894621G>TCA395997664SLC12A3c.2612G>T (p.Arg871Met)
c.2609G>T (p.Arg870Met)
c.2639G>T (p.Arg880Met)
c.2636G>T (p.Arg879Met)
16g.56894622G>ACA495612783SLC12A3c.2613G>A (p.Arg871=)
c.2610G>A (p.Arg870=)
c.2640G>A (p.Arg880=)
c.2637G>A (p.Arg879=)
 dbSNP gnomAD v3 gnomAD v4
16g.56894622G>CCA395997672SLC12A3c.2613G>C (p.Arg871Ser)
c.2610G>C (p.Arg870Ser)
c.2640G>C (p.Arg880Ser)
c.2637G>C (p.Arg879Ser)
16g.56894622G=CA2224361256SLC12A3c.2613G= (p.Arg871=)
c.2610G= (p.Arg870=)
c.2640G= (p.Arg880=)
c.2637G= (p.Arg879=)
16g.56894622G>TCA395997674SLC12A3c.2613G>T (p.Arg871Ser)
c.2610G>T (p.Arg870Ser)
c.2640G>T (p.Arg880Ser)
c.2637G>T (p.Arg879Ser)
16g.56894623A=CA2224361257SLC12A3c.2614A= (p.Met872=)
c.2611A= (p.Met871=)
c.2641A= (p.Met881=)
c.2638A= (p.Met880=)
16g.56894623A>CCA395997677SLC12A3c.2614A>C (p.Met872Leu)
c.2611A>C (p.Met871Leu)
c.2641A>C (p.Met881Leu)
c.2638A>C (p.Met880Leu)
16g.56894623A>GCA8069982SLC12A3c.2614A>G (p.Met872Val)
c.2611A>G (p.Met871Val)
c.2641A>G (p.Met881Val)
c.2638A>G (p.Met880Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894623A>TCA395997681SLC12A3c.2614A>T (p.Met872Leu)
c.2611A>T (p.Met871Leu)
c.2641A>T (p.Met881Leu)
c.2638A>T (p.Met880Leu)
 gnomAD v4
16g.56894624T>ACA395997691SLC12A3c.2615T>A (p.Met872Lys)
c.2612T>A (p.Met871Lys)
c.2642T>A (p.Met881Lys)
c.2639T>A (p.Met880Lys)
16g.56894624T>CCA8069983SLC12A3c.2615T>C (p.Met872Thr)
c.2612T>C (p.Met871Thr)
c.2642T>C (p.Met881Thr)
c.2639T>C (p.Met880Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894624T>GCA395997684SLC12A3c.2615T>G (p.Met872Arg)
c.2612T>G (p.Met871Arg)
c.2642T>G (p.Met881Arg)
c.2639T>G (p.Met880Arg)
16g.56894624T=CA2224361258SLC12A3c.2615T= (p.Met872=)
c.2612T= (p.Met871=)
c.2642T= (p.Met881=)
c.2639T= (p.Met880=)
16g.56894624_56894642dupCA2739266783SLC12A3c.2615_2633dup (p.Ile879GlyfsTer20)
c.2612_2630dup (p.Ile878GlyfsTer20)
c.2642_2660dup (p.Ile888GlyfsTer20)
c.2639_2657dup (p.Ile887GlyfsTer20)
 ClinVar
16g.56894625G>ACA8069984SLC12A3c.2616G>A (p.Met872Ile)
c.2613G>A (p.Met871Ile)
c.2643G>A (p.Met881Ile)
c.2640G>A (p.Met880Ile)
 dbSNP ExAC gnomAD v2
16g.56894625G>CCA395997693SLC12A3c.2616G>C (p.Met872Ile)
c.2613G>C (p.Met871Ile)
c.2643G>C (p.Met881Ile)
c.2640G>C (p.Met880Ile)
16g.56894625G=CA2224361259SLC12A3c.2616G= (p.Met872=)
c.2613G= (p.Met871=)
c.2643G= (p.Met881=)
c.2640G= (p.Met880=)
16g.56894625G>TCA395997695SLC12A3c.2616G>T (p.Met872Ile)
c.2613G>T (p.Met871Ile)
c.2643G>T (p.Met881Ile)
c.2640G>T (p.Met880Ile)
16g.56894626G>ACA395997698SLC12A3c.2617G>A (p.Asp873Asn)
c.2614G>A (p.Asp872Asn)
c.2644G>A (p.Asp882Asn)
c.2641G>A (p.Asp881Asn)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56894626G>CCA8069985SLC12A3c.2617G>C (p.Asp873His)
c.2614G>C (p.Asp872His)
c.2644G>C (p.Asp882His)
c.2641G>C (p.Asp881His)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894626G=CA2224361260SLC12A3c.2617G= (p.Asp873=)
c.2614G= (p.Asp872=)
c.2644G= (p.Asp882=)
c.2641G= (p.Asp881=)
16g.56894626G>TCA395997701SLC12A3c.2617G>T (p.Asp873Tyr)
c.2614G>T (p.Asp872Tyr)
c.2644G>T (p.Asp882Tyr)
c.2641G>T (p.Asp881Tyr)
16g.56894627A>CCA395997710SLC12A3c.2618A>C (p.Asp873Ala)
c.2615A>C (p.Asp872Ala)
c.2645A>C (p.Asp882Ala)
c.2642A>C (p.Asp881Ala)
16g.56894627A>GCA395997704SLC12A3c.2618A>G (p.Asp873Gly)
c.2615A>G (p.Asp872Gly)
c.2645A>G (p.Asp882Gly)
c.2642A>G (p.Asp881Gly)
 COSMIC
16g.56894627A>TCA395997708SLC12A3c.2618A>T (p.Asp873Val)
c.2615A>T (p.Asp872Val)
c.2645A>T (p.Asp882Val)
c.2642A>T (p.Asp881Val)
16g.56894628C>ACA395997712SLC12A3c.2619C>A (p.Asp873Glu)
c.2616C>A (p.Asp872Glu)
c.2646C>A (p.Asp882Glu)
c.2643C>A (p.Asp881Glu)
16g.56894628C>GCA395997715SLC12A3c.2619C>G (p.Asp873Glu)
c.2616C>G (p.Asp872Glu)
c.2646C>G (p.Asp882Glu)
c.2643C>G (p.Asp881Glu)
16g.56894628C>TCA495612784SLC12A3c.2619C>T (p.Asp873=)
c.2616C>T (p.Asp872=)
c.2646C>T (p.Asp882=)
c.2643C>T (p.Asp881=)
16g.56894629C>ACA395997718SLC12A3c.2620C>A (p.Gln874Lys)
c.2617C>A (p.Gln873Lys)
c.2647C>A (p.Gln883Lys)
c.2644C>A (p.Gln882Lys)
16g.56894629C=CA2224361261SLC12A3c.2620C= (p.Gln874=)
c.2617C= (p.Gln873=)
c.2647C= (p.Gln883=)
c.2644C= (p.Gln882=)
16g.56894629C>GCA281514410SLC12A3c.2620C>G (p.Gln874Glu)
c.2617C>G (p.Gln873Glu)
c.2647C>G (p.Gln883Glu)
c.2644C>G (p.Gln882Glu)
 dbSNP
16g.56894629C>TCA395997725SLC12A3c.2620C>T (p.Gln874Ter)
c.2617C>T (p.Gln873Ter)
c.2647C>T (p.Gln883Ter)
c.2644C>T (p.Gln882Ter)
16g.56894630A>CCA395997728SLC12A3c.2621A>C (p.Gln874Pro)
c.2618A>C (p.Gln873Pro)
c.2648A>C (p.Gln883Pro)
c.2645A>C (p.Gln882Pro)
16g.56894630A>GCA395997730SLC12A3c.2621A>G (p.Gln874Arg)
c.2618A>G (p.Gln873Arg)
c.2648A>G (p.Gln883Arg)
c.2645A>G (p.Gln882Arg)
16g.56894630A>TCA395997733SLC12A3c.2621A>T (p.Gln874Leu)
c.2618A>T (p.Gln873Leu)
c.2648A>T (p.Gln883Leu)
c.2645A>T (p.Gln882Leu)
16g.56894631G>ACA495612785SLC12A3c.2622G>A (p.Gln874=)
c.2619G>A (p.Gln873=)
c.2649G>A (p.Gln883=)
c.2646G>A (p.Gln882=)
 ClinVar dbSNP COSMIC
16g.56894631G>CCA395997737SLC12A3c.2622G>C (p.Gln874His)
c.2619G>C (p.Gln873His)
c.2649G>C (p.Gln883His)
c.2646G>C (p.Gln882His)
16g.56894631G>TCA395997740SLC12A3c.2622G>T (p.Gln874His)
c.2619G>T (p.Gln873His)
c.2649G>T (p.Gln883His)
c.2646G>T (p.Gln882His)
16g.56894632G>ACA395997744SLC12A3c.2623G>A (p.Glu875Lys)
c.2620G>A (p.Glu874Lys)
c.2650G>A (p.Glu884Lys)
c.2647G>A (p.Glu883Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56894632G>CCA395997748SLC12A3c.2623G>C (p.Glu875Gln)
c.2620G>C (p.Glu874Gln)
c.2650G>C (p.Glu884Gln)
c.2647G>C (p.Glu883Gln)
 gnomAD v4
16g.56894632G=CA2224361262SLC12A3c.2623G= (p.Glu875=)
c.2620G= (p.Glu874=)
c.2650G= (p.Glu884=)
c.2647G= (p.Glu883=)
16g.56894632G>TCA395997751SLC12A3c.2623G>T (p.Glu875Ter)
c.2620G>T (p.Glu874Ter)
c.2650G>T (p.Glu884Ter)
c.2647G>T (p.Glu883Ter)
16g.56894633A=CA2224361263SLC12A3c.2624A= (p.Glu875=)
c.2621A= (p.Glu874=)
c.2651A= (p.Glu884=)
c.2648A= (p.Glu883=)
16g.56894633A>CCA395997753SLC12A3c.2624A>C (p.Glu875Ala)
c.2621A>C (p.Glu874Ala)
c.2651A>C (p.Glu884Ala)
c.2648A>C (p.Glu883Ala)
16g.56894633A>GCA8069986SLC12A3c.2624A>G (p.Glu875Gly)
c.2621A>G (p.Glu874Gly)
c.2651A>G (p.Glu884Gly)
c.2648A>G (p.Glu883Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894633A>TCA395997754SLC12A3c.2624A>T (p.Glu875Val)
c.2621A>T (p.Glu874Val)
c.2651A>T (p.Glu884Val)
c.2648A>T (p.Glu883Val)
16g.56894634G>ACA281514449SLC12A3c.2625G>A (p.Glu875=)
c.2622G>A (p.Glu874=)
c.2652G>A (p.Glu884=)
c.2649G>A (p.Glu883=)
 ClinVar dbSNP gnomAD v4
16g.56894634G>CCA395997757SLC12A3c.2625G>C (p.Glu875Asp)
c.2622G>C (p.Glu874Asp)
c.2652G>C (p.Glu884Asp)
c.2649G>C (p.Glu883Asp)
 dbSNP
16g.56894634G=CA2224361264SLC12A3c.2625G= (p.Glu875=)
c.2622G= (p.Glu874=)
c.2652G= (p.Glu884=)
c.2649G= (p.Glu883=)
16g.56894634G>TCA395997764SLC12A3c.2625G>T (p.Glu875Asp)
c.2622G>T (p.Glu874Asp)
c.2652G>T (p.Glu884Asp)
c.2649G>T (p.Glu883Asp)
16g.56894635A>CCA495612786SLC12A3c.2626A>C (p.Arg876=)
c.2623A>C (p.Arg875=)
c.2653A>C (p.Arg885=)
c.2650A>C (p.Arg884=)
16g.56894635A>GCA395997766SLC12A3c.2626A>G (p.Arg876Gly)
c.2623A>G (p.Arg875Gly)
c.2653A>G (p.Arg885Gly)
c.2650A>G (p.Arg884Gly)
16g.56894635A>TCA395997768SLC12A3c.2626A>T (p.Arg876Ter)
c.2623A>T (p.Arg875Ter)
c.2653A>T (p.Arg885Ter)
c.2650A>T (p.Arg884Ter)
16g.56894636G>ACA395997769SLC12A3c.2627G>A (p.Arg876Lys)
c.2624G>A (p.Arg875Lys)
c.2654G>A (p.Arg885Lys)
c.2651G>A (p.Arg884Lys)
 gnomAD v4
16g.56894636G>CCA395997771SLC12A3c.2627G>C (p.Arg876Thr)
c.2624G>C (p.Arg875Thr)
c.2654G>C (p.Arg885Thr)
c.2651G>C (p.Arg884Thr)
16g.56894636G=CA2224361265SLC12A3c.2627G= (p.Arg876=)
c.2624G= (p.Arg875=)
c.2654G= (p.Arg885=)
c.2651G= (p.Arg884=)
16g.56894636G>TCA281514454SLC12A3c.2627G>T (p.Arg876Ile)
c.2624G>T (p.Arg875Ile)
c.2654G>T (p.Arg885Ile)
c.2651G>T (p.Arg884Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56894637A>CCA395997777SLC12A3c.2628A>C (p.Arg876Ser)
c.2625A>C (p.Arg875Ser)
c.2655A>C (p.Arg885Ser)
c.2652A>C (p.Arg884Ser)
16g.56894637A>GCA495612787SLC12A3c.2628A>G (p.Arg876=)
c.2625A>G (p.Arg875=)
c.2655A>G (p.Arg885=)
c.2652A>G (p.Arg884=)
16g.56894637A>TCA395997778SLC12A3c.2628A>T (p.Arg876Ser)
c.2625A>T (p.Arg875Ser)
c.2655A>T (p.Arg885Ser)
c.2652A>T (p.Arg884Ser)
16g.56894638A>CCA395997780SLC12A3c.2629A>C (p.Lys877Gln)
c.2626A>C (p.Lys876Gln)
c.2656A>C (p.Lys886Gln)
c.2653A>C (p.Lys885Gln)
16g.56894638A>GCA395997788SLC12A3c.2629A>G (p.Lys877Glu)
c.2626A>G (p.Lys876Glu)
c.2656A>G (p.Lys886Glu)
c.2653A>G (p.Lys885Glu)
16g.56894638A>TCA395997791SLC12A3c.2629A>T (p.Lys877Ter)
c.2626A>T (p.Lys876Ter)
c.2656A>T (p.Lys886Ter)
c.2653A>T (p.Lys885Ter)
16g.56894639A=CA2224361266SLC12A3c.2630A= (p.Lys877=)
c.2627A= (p.Lys876=)
c.2657A= (p.Lys886=)
c.2654A= (p.Lys885=)
16g.56894639A>CCA395997796SLC12A3c.2630A>C (p.Lys877Thr)
c.2627A>C (p.Lys876Thr)
c.2657A>C (p.Lys886Thr)
c.2654A>C (p.Lys885Thr)
16g.56894639A>GCA395997793SLC12A3c.2630A>G (p.Lys877Arg)
c.2627A>G (p.Lys876Arg)
c.2657A>G (p.Lys886Arg)
c.2654A>G (p.Lys885Arg)
 dbSNP gnomAD v3 gnomAD v4
16g.56894639A>TCA395997794SLC12A3c.2630A>T (p.Lys877Met)
c.2627A>T (p.Lys876Met)
c.2657A>T (p.Lys886Met)
c.2654A>T (p.Lys885Met)
16g.56894640G>ACA495612788SLC12A3c.2631G>A (p.Lys877=)
c.2628G>A (p.Lys876=)
c.2658G>A (p.Lys886=)
c.2655G>A (p.Lys885=)
16g.56894640G>CCA395997806SLC12A3c.2631G>C (p.Lys877Asn)
c.2628G>C (p.Lys876Asn)
c.2658G>C (p.Lys886Asn)
c.2655G>C (p.Lys885Asn)
16g.56894640G>TCA395997809SLC12A3c.2631G>T (p.Lys877Asn)
c.2628G>T (p.Lys876Asn)
c.2658G>T (p.Lys886Asn)
c.2655G>T (p.Lys885Asn)
16g.56894641G>ACA395997812SLC12A3c.2632G>A (p.Ala878Thr)
c.2629G>A (p.Ala877Thr)
c.2659G>A (p.Ala887Thr)
c.2656G>A (p.Ala886Thr)
 gnomAD v4 COSMIC
16g.56894641G>CCA395997814SLC12A3c.2632G>C (p.Ala878Pro)
c.2629G>C (p.Ala877Pro)
c.2659G>C (p.Ala887Pro)
c.2656G>C (p.Ala886Pro)
16g.56894641G>TCA395997818SLC12A3c.2632G>T (p.Ala878Ser)
c.2629G>T (p.Ala877Ser)
c.2659G>T (p.Ala887Ser)
c.2656G>T (p.Ala886Ser)
16g.56894642C>ACA395997820SLC12A3c.2633C>A (p.Ala878Glu)
c.2630C>A (p.Ala877Glu)
c.2660C>A (p.Ala887Glu)
c.2657C>A (p.Ala886Glu)
16g.56894642C=CA2224361267SLC12A3c.2633C= (p.Ala878=)
c.2630C= (p.Ala877=)
c.2660C= (p.Ala887=)
c.2657C= (p.Ala886=)
16g.56894642C>GCA395997824SLC12A3c.2633C>G (p.Ala878Gly)
c.2630C>G (p.Ala877Gly)
c.2660C>G (p.Ala887Gly)
c.2657C>G (p.Ala886Gly)
16g.56894642C>TCA8069987SLC12A3c.2633C>T (p.Ala878Val)
c.2630C>T (p.Ala877Val)
c.2660C>T (p.Ala887Val)
c.2657C>T (p.Ala886Val)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16g.56894643delCA2633374482SLC12A3c.2633+1del (n.2633+1del)
c.2630+1del (n.2630+1del)
c.2660+1del (n.2660+1del)
c.2657+1del (n.2657+1del)
 gnomAD v4
16g.56894643G>ACA8069988SLC12A3c.2633+1G>A (n.2633+1G>A)
c.2630+1G>A (n.2630+1G>A)
c.2660+1G>A (n.2660+1G>A)
c.2657+1G>A (n.2657+1G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894643G>CCA395997828SLC12A3c.2633+1G>C (n.2633+1G>C)
c.2630+1G>C (n.2630+1G>C)
c.2660+1G>C (n.2660+1G>C)
c.2657+1G>C (n.2657+1G>C)
 gnomAD v4
16g.56894643G=CA2224361268SLC12A3c.2633+1G= (n.2633+1G=)
c.2630+1G= (n.2630+1G=)
c.2660+1G= (n.2660+1G=)
c.2657+1G= (n.2657+1G=)
16g.56894643G>TCA395997830SLC12A3c.2633+1G>T (n.2633+1G>T)
c.2630+1G>T (n.2630+1G>T)
c.2660+1G>T (n.2660+1G>T)
c.2657+1G>T (n.2657+1G>T)
16g.56894644delCA2633374483SLC12A3c.2633+2del (n.2633+2del)
c.2630+2del (n.2630+2del)
c.2660+2del (n.2660+2del)
c.2657+2del (n.2657+2del)
 gnomAD v4
16g.56894644T>ACA395997838SLC12A3c.2633+2T>A (n.2633+2T>A)
c.2630+2T>A (n.2630+2T>A)
c.2660+2T>A (n.2660+2T>A)
c.2657+2T>A (n.2657+2T>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56894644T>CCA395997835SLC12A3c.2633+2T>C (n.2633+2T>C)
c.2630+2T>C (n.2630+2T>C)
c.2660+2T>C (n.2660+2T>C)
c.2657+2T>C (n.2657+2T>C)
16g.56894644T>GCA395997833SLC12A3c.2633+2T>G (n.2633+2T>G)
c.2630+2T>G (n.2630+2T>G)
c.2660+2T>G (n.2660+2T>G)
c.2657+2T>G (n.2657+2T>G)
 ClinVar
16g.56894644T=CA2224361269SLC12A3c.2633+2T= (n.2633+2T=)
c.2630+2T= (n.2630+2T=)
c.2660+2T= (n.2660+2T=)
c.2657+2T= (n.2657+2T=)
16g.56894644dupCA8069989SLC12A3c.2633+2dup (n.2633+2dup)
c.2630+2dup (n.2630+2dup)
c.2660+2dup (n.2660+2dup)
c.2657+2dup (n.2657+2dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894645A>GCA2633374484SLC12A3c.2633+3A>G (n.2633+3A>G)
c.2630+3A>G (n.2630+3A>G)
c.2660+3A>G (n.2660+3A>G)
c.2657+3A>G (n.2657+3A>G)
 gnomAD v4
16g.56894647G>ACA2224361271SLC12A3c.2633+5G>A (n.2633+5G>A)
c.2630+5G>A (n.2630+5G>A)
c.2660+5G>A (n.2660+5G>A)
c.2657+5G>A (n.2657+5G>A)
 dbSNP
16g.56894647G=CA2224361270SLC12A3c.2633+5G= (n.2633+5G=)
c.2630+5G= (n.2630+5G=)
c.2660+5G= (n.2660+5G=)
c.2657+5G= (n.2657+5G=)
16g.56894648T>ACA8069990SLC12A3c.2633+6T>A (n.2633+6T>A)
c.2630+6T>A (n.2630+6T>A)
c.2660+6T>A (n.2660+6T>A)
c.2657+6T>A (n.2657+6T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894648T>CCA2633374485SLC12A3c.2633+6T>C (n.2633+6T>C)
c.2630+6T>C (n.2630+6T>C)
c.2660+6T>C (n.2660+6T>C)
c.2657+6T>C (n.2657+6T>C)
 gnomAD v4
16g.56894648T=CA2224361272SLC12A3c.2633+6T= (n.2633+6T=)
c.2630+6T= (n.2630+6T=)
c.2660+6T= (n.2660+6T=)
c.2657+6T= (n.2657+6T=)
16g.56894649G>ACA915949275SLC12A3c.2633+7G>A (n.2633+7G>A)
c.2630+7G>A (n.2630+7G>A)
c.2660+7G>A (n.2660+7G>A)
c.2657+7G>A (n.2657+7G>A)
 ClinVar dbSNP gnomAD v4
16g.56894649G=CA2224361273SLC12A3c.2633+7G= (n.2633+7G=)
c.2630+7G= (n.2630+7G=)
c.2660+7G= (n.2660+7G=)
c.2657+7G= (n.2657+7G=)
16g.56894650T>CCA622340537SLC12A3c.2633+8T>C (n.2633+8T>C)
c.2630+8T>C (n.2630+8T>C)
c.2660+8T>C (n.2660+8T>C)
c.2657+8T>C (n.2657+8T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
16g.56894650T=CA2224361274SLC12A3c.2633+8T= (n.2633+8T=)
c.2630+8T= (n.2630+8T=)
c.2660+8T= (n.2660+8T=)
c.2657+8T= (n.2657+8T=)
16g.56894652delCA2580091702SLC12A3c.2633+10del (n.2633+10del)
c.2630+10del (n.2630+10del)
c.2660+10del (n.2660+10del)
c.2657+10del (n.2657+10del)
 ClinVar
16g.56894654G>ACA2633374486SLC12A3c.2633+12G>A (n.2633+12G>A)
c.2630+12G>A (n.2630+12G>A)
c.2660+12G>A (n.2660+12G>A)
c.2657+12G>A (n.2657+12G>A)
 gnomAD v4
16g.56894657C>ACA2633374487SLC12A3c.2633+15C>A (n.2633+15C>A)
c.2630+15C>A (n.2630+15C>A)
c.2660+15C>A (n.2660+15C>A)
c.2657+15C>A (n.2657+15C>A)
 gnomAD v4
16g.56894660G=CA2224361275SLC12A3c.2633+18G= (n.2633+18G=)
c.2630+18G= (n.2630+18G=)
c.2660+18G= (n.2660+18G=)
c.2657+18G= (n.2657+18G=)
16g.56894660G>TCA2224361276SLC12A3c.2633+18G>T (n.2633+18G>T)
c.2630+18G>T (n.2630+18G>T)
c.2660+18G>T (n.2660+18G>T)
c.2657+18G>T (n.2657+18G>T)
 dbSNP
16g.56894661C>ACA2633374488SLC12A3c.2633+19C>A (n.2633+19C>A)
c.2630+19C>A (n.2630+19C>A)
c.2660+19C>A (n.2660+19C>A)
c.2657+19C>A (n.2657+19C>A)
 gnomAD v4
16g.56894661C=CA2224361277SLC12A3c.2633+19C= (n.2633+19C=)
c.2630+19C= (n.2630+19C=)
c.2660+19C= (n.2660+19C=)
c.2657+19C= (n.2657+19C=)
16g.56894661C>TCA622340538SLC12A3c.2633+19C>T (n.2633+19C>T)
c.2630+19C>T (n.2630+19C>T)
c.2660+19C>T (n.2660+19C>T)
c.2657+19C>T (n.2657+19C>T)
 dbSNP gnomAD v2 gnomAD v4
16g.56894662C>ACA2633374489SLC12A3c.2633+20C>A (n.2633+20C>A)
c.2630+20C>A (n.2630+20C>A)
c.2660+20C>A (n.2660+20C>A)
c.2657+20C>A (n.2657+20C>A)
 gnomAD v4
16g.56894662C=CA2224361278SLC12A3c.2633+20C= (n.2633+20C=)
c.2630+20C= (n.2630+20C=)
c.2660+20C= (n.2660+20C=)
c.2657+20C= (n.2657+20C=)
16g.56894662C>GCA2224361279SLC12A3c.2633+20C>G (n.2633+20C>G)
c.2630+20C>G (n.2630+20C>G)
c.2660+20C>G (n.2660+20C>G)
c.2657+20C>G (n.2657+20C>G)
 dbSNP
16g.56894663T>CCA281514468SLC12A3c.2633+21T>C (n.2633+21T>C)
c.2630+21T>C (n.2630+21T>C)
c.2660+21T>C (n.2660+21T>C)
c.2657+21T>C (n.2657+21T>C)
 dbSNP
16g.56894663T=CA2224361280SLC12A3c.2633+21T= (n.2633+21T=)
c.2630+21T= (n.2630+21T=)
c.2660+21T= (n.2660+21T=)
c.2657+21T= (n.2657+21T=)
16g.56894663_56894664delinsTGCA2224361281SLC12A3c.2633+21_2633+22delinsTG (n.2633+21_2633+22delinsTG)
c.2630+21_2630+22delinsTG (n.2630+21_2630+22delinsTG)
c.2660+21_2660+22delinsTG (n.2660+21_2660+22delinsTG)
c.2657+21_2657+22delinsTG (n.2657+21_2657+22delinsTG)
16g.56894668dupCA622340542SLC12A3c.2633+26dup (n.2633+26dup)
c.2630+26dup (n.2630+26dup)
c.2660+26dup (n.2660+26dup)
c.2657+26dup (n.2657+26dup)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56894668delCA622340539SLC12A3c.2633+26del (n.2633+26del)
c.2630+26del (n.2630+26del)
c.2660+26del (n.2660+26del)
c.2657+26del (n.2657+26del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16g.56894665G>ACA2633374490SLC12A3c.2633+23G>A (n.2633+23G>A)
c.2630+23G>A (n.2630+23G>A)
c.2660+23G>A (n.2660+23G>A)
c.2657+23G>A (n.2657+23G>A)
 gnomAD v4
16g.56894666G>ACA2633374491SLC12A3c.2633+24G>A (n.2633+24G>A)
c.2630+24G>A (n.2630+24G>A)
c.2660+24G>A (n.2660+24G>A)
c.2657+24G>A (n.2657+24G>A)
 gnomAD v4
16g.56894666G>CCA2633374494SLC12A3c.2633+24G>C (n.2633+24G>C)
c.2630+24G>C (n.2630+24G>C)
c.2660+24G>C (n.2660+24G>C)
c.2657+24G>C (n.2657+24G>C)
 gnomAD v4
16g.56894667G>ACA8069991SLC12A3c.2633+25G>A (n.2633+25G>A)
c.2630+25G>A (n.2630+25G>A)
c.2660+25G>A (n.2660+25G>A)
c.2657+25G>A (n.2657+25G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894667G=CA2224361282SLC12A3c.2633+25G= (n.2633+25G=)
c.2630+25G= (n.2630+25G=)
c.2660+25G= (n.2660+25G=)
c.2657+25G= (n.2657+25G=)
16g.56894668G>ACA2224361284SLC12A3c.2633+26G>A (n.2633+26G>A)
c.2630+26G>A (n.2630+26G>A)
c.2660+26G>A (n.2660+26G>A)
c.2657+26G>A (n.2657+26G>A)
 dbSNP gnomAD v4
16g.56894668G=CA2224361283SLC12A3c.2633+26G= (n.2633+26G=)
c.2630+26G= (n.2630+26G=)
c.2660+26G= (n.2660+26G=)
c.2657+26G= (n.2657+26G=)
16g.56894668G>TCA2633374496SLC12A3c.2633+26G>T (n.2633+26G>T)
c.2630+26G>T (n.2630+26G>T)
c.2660+26G>T (n.2660+26G>T)
c.2657+26G>T (n.2657+26G>T)
 gnomAD v4
16g.56894669T>GCA2224361286SLC12A3c.2633+27T>G (n.2633+27T>G)
c.2630+27T>G (n.2630+27T>G)
c.2660+27T>G (n.2660+27T>G)
c.2657+27T>G (n.2657+27T>G)
 dbSNP
16g.56894669T=CA2224361285SLC12A3c.2633+27T= (n.2633+27T=)
c.2630+27T= (n.2630+27T=)
c.2660+27T= (n.2660+27T=)
c.2657+27T= (n.2657+27T=)
16g.56894670G>TCA2633374497SLC12A3c.2633+28G>T (n.2633+28G>T)
c.2630+28G>T (n.2630+28G>T)
c.2660+28G>T (n.2660+28G>T)
c.2657+28G>T (n.2657+28G>T)
 gnomAD v4
16g.56894673T>ACA8069992SLC12A3c.2633+31T>A (n.2633+31T>A)
c.2630+31T>A (n.2630+31T>A)
c.2660+31T>A (n.2660+31T>A)
c.2657+31T>A (n.2657+31T>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
16g.56894673T>CCA2633374500SLC12A3c.2633+31T>C (n.2633+31T>C)
c.2630+31T>C (n.2630+31T>C)
c.2660+31T>C (n.2660+31T>C)
c.2657+31T>C (n.2657+31T>C)
 gnomAD v4
16g.56894673T>GCA2633374501SLC12A3c.2633+31T>G (n.2633+31T>G)
c.2630+31T>G (n.2630+31T>G)
c.2660+31T>G (n.2660+31T>G)
c.2657+31T>G (n.2657+31T>G)
 gnomAD v4
16g.56894673T=CA2224361287SLC12A3c.2633+31T= (n.2633+31T=)
c.2630+31T= (n.2630+31T=)
c.2660+31T= (n.2660+31T=)
c.2657+31T= (n.2657+31T=)
16g.56894674G>ACA622340549SLC12A3c.2633+32G>A (n.2633+32G>A)
c.2630+32G>A (n.2630+32G>A)
c.2660+32G>A (n.2660+32G>A)
c.2657+32G>A (n.2657+32G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.56894674G=CA2224361288SLC12A3c.2633+32G= (n.2633+32G=)
c.2630+32G= (n.2630+32G=)
c.2660+32G= (n.2660+32G=)
c.2657+32G= (n.2657+32G=)
16g.56894674G>TCA8069993SLC12A3c.2633+32G>T (n.2633+32G>T)
c.2630+32G>T (n.2630+32G>T)
c.2660+32G>T (n.2660+32G>T)
c.2657+32G>T (n.2657+32G>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894675C>ACA2224361290SLC12A3c.2633+33C>A (n.2633+33C>A)
c.2630+33C>A (n.2630+33C>A)
c.2660+33C>A (n.2660+33C>A)
c.2657+33C>A (n.2657+33C>A)
 dbSNP gnomAD v4
16g.56894675C=CA2224361289SLC12A3c.2633+33C= (n.2633+33C=)
c.2630+33C= (n.2630+33C=)
c.2660+33C= (n.2660+33C=)
c.2657+33C= (n.2657+33C=)
16g.56894675C>TCA2633374511SLC12A3c.2633+33C>T (n.2633+33C>T)
c.2630+33C>T (n.2630+33C>T)
c.2660+33C>T (n.2660+33C>T)
c.2657+33C>T (n.2657+33C>T)
 gnomAD v4
16g.56894677G>ACA721944482SLC12A3c.2633+35G>A (n.2633+35G>A)
c.2630+35G>A (n.2630+35G>A)
c.2660+35G>A (n.2660+35G>A)
c.2657+35G>A (n.2657+35G>A)
 dbSNP
16g.56894677G=CA2224361291SLC12A3c.2633+35G= (n.2633+35G=)
c.2630+35G= (n.2630+35G=)
c.2660+35G= (n.2660+35G=)
c.2657+35G= (n.2657+35G=)
16g.56894677G>TCA2633374512SLC12A3c.2633+35G>T (n.2633+35G>T)
c.2630+35G>T (n.2630+35G>T)
c.2660+35G>T (n.2660+35G>T)
c.2657+35G>T (n.2657+35G>T)
 gnomAD v4
16g.56894678G>ACA8069994SLC12A3c.2633+36G>A (n.2633+36G>A)
c.2630+36G>A (n.2630+36G>A)
c.2660+36G>A (n.2660+36G>A)
c.2657+36G>A (n.2657+36G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16g.56894678G=CA2224361292SLC12A3c.2633+36G= (n.2633+36G=)
c.2630+36G= (n.2630+36G=)
c.2660+36G= (n.2660+36G=)
c.2657+36G= (n.2657+36G=)
16g.56894679G>ACA622340552SLC12A3c.2633+37G>A (n.2633+37G>A)
c.2630+37G>A (n.2630+37G>A)
c.2660+37G>A (n.2660+37G>A)
c.2657+37G>A (n.2657+37G>A)
 dbSNP gnomAD v2 gnomAD v4
16g.56894679G=CA2224361293SLC12A3c.2633+37G= (n.2633+37G=)
c.2630+37G= (n.2630+37G=)
c.2660+37G= (n.2660+37G=)
c.2657+37G= (n.2657+37G=)
16g.56894679G>TCA622340553SLC12A3c.2633+37G>T (n.2633+37G>T)
c.2630+37G>T (n.2630+37G>T)
c.2660+37G>T (n.2660+37G>T)
c.2657+37G>T (n.2657+37G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched