Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.109783650_109783680delinsTGCGGGGGTAACCCTGCTGGTGGCCATCGCACA2062557232TRPV4c.2557_2587delinsTGCGATGGCCACCAGCAGGGTTACCCCCGCA (p.Cys853=)
c.*1644_*1674delinsTGCGATGGCCACCAGCAGGGTTACCCCCGCA (n.*1644_*1674delinsTGCGATGGCCACCAGCAGGGTTACCCCCGCA)
c.2455_2485delinsTGCGATGGCCACCAGCAGGGTTACCCCCGCA (p.Cys819=)
c.2377_2407delinsTGCGATGGCCACCAGCAGGGTTACCCCCGCA (p.Cys793=)
c.*940_*970delinsTGCGATGGCCACCAGCAGGGTTACCCCCGCA (n.*940_*970delinsTGCGATGGCCACCAGCAGGGTTACCCCCGCA)
c.2416_2446delinsTGCGATGGCCACCAGCAGGGTTACCCCCGCA (p.Cys806=)
c.2236_2266delinsTGCGATGGCCACCAGCAGGGTTACCCCCGCA (p.Cys746=)
c.2710_2740delinsTGCGATGGCCACCAGCAGGGTTACCCCCGCA (p.Cys904=)
c.2569_2599delinsTGCGATGGCCACCAGCAGGGTTACCCCCGCA (p.Cys857=)
c.2530_2560delinsTGCGATGGCCACCAGCAGGGTTACCCCCGCA (p.Cys844=)
c.2389_2419delinsTGCGATGGCCACCAGCAGGGTTACCCCCGCA (p.Cys797=)
12g.109783659_109783688delCA658797952TRPV4c.2557_2586del (p.Cys853_Arg862del)
c.*1644_*1673del (n.*1644_*1673del)
c.2455_2484del (p.Cys819_Arg828del)
c.2377_2406del (p.Cys793_Arg802del)
c.*940_*969del (n.*940_*969del)
c.2416_2445del (p.Cys806_Arg815del)
c.2236_2265del (p.Cys746_Arg755del)
c.2710_2739del (p.Cys904_Arg913del)
c.2569_2598del (p.Cys857_Arg866del)
c.2530_2559del (p.Cys844_Arg853del)
c.2389_2418del (p.Cys797_Arg806del)
 ClinVar dbSNP
12g.109783660_109783661delinsACCA2062557254TRPV4c.2576_2577delinsGT (p.Gly859=)
c.*1663_*1664delinsGT (n.*1663_*1664delinsGT)
c.2474_2475delinsGT (p.Gly825=)
c.2396_2397delinsGT (p.Gly799=)
c.*959_*960delinsGT (n.*959_*960delinsGT)
c.2435_2436delinsGT (p.Gly812=)
c.2255_2256delinsGT (p.Gly752=)
c.2729_2730delinsGT (p.Gly910=)
c.2588_2589delinsGT (p.Gly863=)
c.2549_2550delinsGT (p.Gly850=)
c.2408_2409delinsGT (p.Gly803=)
12g.109783661C>ACA386648345TRPV4c.2576G>T (p.Gly859Val)
c.*1663G>T (n.*1663G>T)
c.2474G>T (p.Gly825Val)
c.2396G>T (p.Gly799Val)
c.*959G>T (n.*959G>T)
c.2435G>T (p.Gly812Val)
c.2255G>T (p.Gly752Val)
c.2729G>T (p.Gly910Val)
c.2588G>T (p.Gly863Val)
c.2549G>T (p.Gly850Val)
c.2408G>T (p.Gly803Val)
 gnomAD v4
12g.109783661C=CA2062557257TRPV4c.2576G= (p.Gly859=)
c.*1663G= (n.*1663G=)
c.2474G= (p.Gly825=)
c.2396G= (p.Gly799=)
c.*959G= (n.*959G=)
c.2435G= (p.Gly812=)
c.2255G= (p.Gly752=)
c.2729G= (p.Gly910=)
c.2588G= (p.Gly863=)
c.2549G= (p.Gly850=)
c.2408G= (p.Gly803=)
12g.109783661C>GCA386648347TRPV4c.2576G>C (p.Gly859Ala)
c.*1663G>C (n.*1663G>C)
c.2474G>C (p.Gly825Ala)
c.2396G>C (p.Gly799Ala)
c.*959G>C (n.*959G>C)
c.2435G>C (p.Gly812Ala)
c.2255G>C (p.Gly752Ala)
c.2729G>C (p.Gly910Ala)
c.2588G>C (p.Gly863Ala)
c.2549G>C (p.Gly850Ala)
c.2408G>C (p.Gly803Ala)
12g.109783661C>TCA386648350TRPV4c.2576G>A (p.Gly859Asp)
c.*1663G>A (n.*1663G>A)
c.2474G>A (p.Gly825Asp)
c.2396G>A (p.Gly799Asp)
c.*959G>A (n.*959G>A)
c.2435G>A (p.Gly812Asp)
c.2255G>A (p.Gly752Asp)
c.2729G>A (p.Gly910Asp)
c.2588G>A (p.Gly863Asp)
c.2549G>A (p.Gly850Asp)
c.2408G>A (p.Gly803Asp)
 dbSNP gnomAD v3 gnomAD v4
12g.109783663delCA6779854TRPV4c.2576del (p.Gly859ValfsTer28)
c.*1663del (n.*1663del)
c.2474del (p.Gly825ValfsTer?)
c.2396del (p.Gly799ValfsTer?)
c.*959del (n.*959del)
c.2435del (p.Gly812ValfsTer?)
c.2255del (p.Gly752ValfsTer?)
c.2435del (p.Gly812ValfsTer28)
c.2474del (p.Gly825ValfsTer28)
c.2255del (p.Gly752ValfsTer28)
c.2396del (p.Gly799ValfsTer28)
c.2729del (p.Gly910ValfsTer28)
c.2588del (p.Gly863ValfsTer28)
c.2549del (p.Gly850ValfsTer28)
c.2408del (p.Gly803ValfsTer28)
 dbSNP ExAC gnomAD v2
12g.109783662C>ACA386648354TRPV4c.2575G>T (p.Gly859Cys)
c.*1662G>T (n.*1662G>T)
c.2473G>T (p.Gly825Cys)
c.2395G>T (p.Gly799Cys)
c.*958G>T (n.*958G>T)
c.2434G>T (p.Gly812Cys)
c.2254G>T (p.Gly752Cys)
c.2728G>T (p.Gly910Cys)
c.2587G>T (p.Gly863Cys)
c.2548G>T (p.Gly850Cys)
c.2407G>T (p.Gly803Cys)
 ClinVar
12g.109783662C=CA2062557259TRPV4c.2575G= (p.Gly859=)
c.*1662G= (n.*1662G=)
c.2473G= (p.Gly825=)
c.2395G= (p.Gly799=)
c.*958G= (n.*958G=)
c.2434G= (p.Gly812=)
c.2254G= (p.Gly752=)
c.2728G= (p.Gly910=)
c.2587G= (p.Gly863=)
c.2548G= (p.Gly850=)
c.2407G= (p.Gly803=)
12g.109783662C>GCA386648356TRPV4c.2575G>C (p.Gly859Arg)
c.*1662G>C (n.*1662G>C)
c.2473G>C (p.Gly825Arg)
c.2395G>C (p.Gly799Arg)
c.*958G>C (n.*958G>C)
c.2434G>C (p.Gly812Arg)
c.2254G>C (p.Gly752Arg)
c.2728G>C (p.Gly910Arg)
c.2587G>C (p.Gly863Arg)
c.2548G>C (p.Gly850Arg)
c.2407G>C (p.Gly803Arg)
 dbSNP
12g.109783662C>TCA386648358TRPV4c.2575G>A (p.Gly859Ser)
c.*1662G>A (n.*1662G>A)
c.2473G>A (p.Gly825Ser)
c.2395G>A (p.Gly799Ser)
c.*958G>A (n.*958G>A)
c.2434G>A (p.Gly812Ser)
c.2254G>A (p.Gly752Ser)
c.2728G>A (p.Gly910Ser)
c.2587G>A (p.Gly863Ser)
c.2548G>A (p.Gly850Ser)
c.2407G>A (p.Gly803Ser)
12g.109783663C>ACA386648360TRPV4c.2574G>T (p.Gln858His)
c.*1661G>T (n.*1661G>T)
c.2472G>T (p.Gln824His)
c.2394G>T (p.Gln798His)
c.*957G>T (n.*957G>T)
c.2433G>T (p.Gln811His)
c.2253G>T (p.Gln751His)
c.2727G>T (p.Gln909His)
c.2586G>T (p.Gln862His)
c.2547G>T (p.Gln849His)
c.2406G>T (p.Gln802His)
12g.109783663C>GCA386648361TRPV4c.2574G>C (p.Gln858His)
c.*1661G>C (n.*1661G>C)
c.2472G>C (p.Gln824His)
c.2394G>C (p.Gln798His)
c.*957G>C (n.*957G>C)
c.2433G>C (p.Gln811His)
c.2253G>C (p.Gln751His)
c.2727G>C (p.Gln909His)
c.2586G>C (p.Gln862His)
c.2547G>C (p.Gln849His)
c.2406G>C (p.Gln802His)
12g.109783663C>TCA481723913TRPV4c.2574G>A (p.Gln858=)
c.*1661G>A (n.*1661G>A)
c.2472G>A (p.Gln824=)
c.2394G>A (p.Gln798=)
c.*957G>A (n.*957G>A)
c.2433G>A (p.Gln811=)
c.2253G>A (p.Gln751=)
c.2727G>A (p.Gln909=)
c.2586G>A (p.Gln862=)
c.2547G>A (p.Gln849=)
c.2406G>A (p.Gln802=)
12g.109783664T>ACA386648364TRPV4c.2573A>T (p.Gln858Leu)
c.*1660A>T (n.*1660A>T)
c.2471A>T (p.Gln824Leu)
c.2393A>T (p.Gln798Leu)
c.*956A>T (n.*956A>T)
c.2432A>T (p.Gln811Leu)
c.2252A>T (p.Gln751Leu)
c.2726A>T (p.Gln909Leu)
c.2585A>T (p.Gln862Leu)
c.2546A>T (p.Gln849Leu)
c.2405A>T (p.Gln802Leu)
12g.109783664T>CCA386648366TRPV4c.2573A>G (p.Gln858Arg)
c.*1660A>G (n.*1660A>G)
c.2471A>G (p.Gln824Arg)
c.2393A>G (p.Gln798Arg)
c.*956A>G (n.*956A>G)
c.2432A>G (p.Gln811Arg)
c.2252A>G (p.Gln751Arg)
c.2726A>G (p.Gln909Arg)
c.2585A>G (p.Gln862Arg)
c.2546A>G (p.Gln849Arg)
c.2405A>G (p.Gln802Arg)
 COSMIC
12g.109783664T>GCA386648368TRPV4c.2573A>C (p.Gln858Pro)
c.*1660A>C (n.*1660A>C)
c.2471A>C (p.Gln824Pro)
c.2393A>C (p.Gln798Pro)
c.*956A>C (n.*956A>C)
c.2432A>C (p.Gln811Pro)
c.2252A>C (p.Gln751Pro)
c.2726A>C (p.Gln909Pro)
c.2585A>C (p.Gln862Pro)
c.2546A>C (p.Gln849Pro)
c.2405A>C (p.Gln802Pro)
12g.109783665G>ACA6779855TRPV4c.2572C>T (p.Gln858Ter)
c.*1659C>T (n.*1659C>T)
c.2470C>T (p.Gln824Ter)
c.2392C>T (p.Gln798Ter)
c.*955C>T (n.*955C>T)
c.2431C>T (p.Gln811Ter)
c.2251C>T (p.Gln751Ter)
c.2725C>T (p.Gln909Ter)
c.2584C>T (p.Gln862Ter)
c.2545C>T (p.Gln849Ter)
c.2404C>T (p.Gln802Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783665G>CCA386648371TRPV4c.2572C>G (p.Gln858Glu)
c.*1659C>G (n.*1659C>G)
c.2470C>G (p.Gln824Glu)
c.2392C>G (p.Gln798Glu)
c.*955C>G (n.*955C>G)
c.2431C>G (p.Gln811Glu)
c.2251C>G (p.Gln751Glu)
c.2725C>G (p.Gln909Glu)
c.2584C>G (p.Gln862Glu)
c.2545C>G (p.Gln849Glu)
c.2404C>G (p.Gln802Glu)
12g.109783665G=CA2062557260TRPV4c.2572C= (p.Gln858=)
c.*1659C= (n.*1659C=)
c.2470C= (p.Gln824=)
c.2392C= (p.Gln798=)
c.*955C= (n.*955C=)
c.2431C= (p.Gln811=)
c.2251C= (p.Gln751=)
c.2725C= (p.Gln909=)
c.2584C= (p.Gln862=)
c.2545C= (p.Gln849=)
c.2404C= (p.Gln802=)
12g.109783665G>TCA386648373TRPV4c.2572C>A (p.Gln858Lys)
c.*1659C>A (n.*1659C>A)
c.2470C>A (p.Gln824Lys)
c.2392C>A (p.Gln798Lys)
c.*955C>A (n.*955C>A)
c.2431C>A (p.Gln811Lys)
c.2251C>A (p.Gln751Lys)
c.2725C>A (p.Gln909Lys)
c.2584C>A (p.Gln862Lys)
c.2545C>A (p.Gln849Lys)
c.2404C>A (p.Gln802Lys)
12g.109783666C>ACA386648375TRPV4c.2571G>T (p.Gln857His)
c.*1658G>T (n.*1658G>T)
c.2469G>T (p.Gln823His)
c.2391G>T (p.Gln797His)
c.*954G>T (n.*954G>T)
c.2430G>T (p.Gln810His)
c.2250G>T (p.Gln750His)
c.2724G>T (p.Gln908His)
c.2583G>T (p.Gln861His)
c.2544G>T (p.Gln848His)
c.2403G>T (p.Gln801His)
12g.109783666C>GCA386648377TRPV4c.2571G>C (p.Gln857His)
c.*1658G>C (n.*1658G>C)
c.2469G>C (p.Gln823His)
c.2391G>C (p.Gln797His)
c.*954G>C (n.*954G>C)
c.2430G>C (p.Gln810His)
c.2250G>C (p.Gln750His)
c.2724G>C (p.Gln908His)
c.2583G>C (p.Gln861His)
c.2544G>C (p.Gln848His)
c.2403G>C (p.Gln801His)
12g.109783666C>TCA481723914TRPV4c.2571G>A (p.Gln857=)
c.*1658G>A (n.*1658G>A)
c.2469G>A (p.Gln823=)
c.2391G>A (p.Gln797=)
c.*954G>A (n.*954G>A)
c.2430G>A (p.Gln810=)
c.2250G>A (p.Gln750=)
c.2724G>A (p.Gln908=)
c.2583G>A (p.Gln861=)
c.2544G>A (p.Gln848=)
c.2403G>A (p.Gln801=)
12g.109783666_109783667delinsCTCA2062557262TRPV4c.2570_2571delinsAG (p.Gln857=)
c.*1657_*1658delinsAG (n.*1657_*1658delinsAG)
c.2468_2469delinsAG (p.Gln823=)
c.2390_2391delinsAG (p.Gln797=)
c.*953_*954delinsAG (n.*953_*954delinsAG)
c.2429_2430delinsAG (p.Gln810=)
c.2249_2250delinsAG (p.Gln750=)
c.2723_2724delinsAG (p.Gln908=)
c.2582_2583delinsAG (p.Gln861=)
c.2543_2544delinsAG (p.Gln848=)
c.2402_2403delinsAG (p.Gln801=)
12g.109783667delCA2062557265TRPV4c.2570del (p.Gln857ArgfsTer30)
c.*1657del (n.*1657del)
c.2468del (p.Gln823ArgfsTer?)
c.2390del (p.Gln797ArgfsTer?)
c.*953del (n.*953del)
c.2429del (p.Gln810ArgfsTer?)
c.2249del (p.Gln750ArgfsTer?)
c.2429del (p.Gln810ArgfsTer30)
c.2468del (p.Gln823ArgfsTer30)
c.2249del (p.Gln750ArgfsTer30)
c.2390del (p.Gln797ArgfsTer30)
c.2723del (p.Gln908ArgfsTer30)
c.2582del (p.Gln861ArgfsTer30)
c.2543del (p.Gln848ArgfsTer30)
c.2402del (p.Gln801ArgfsTer30)
 dbSNP
12g.109783667T>ACA386648380TRPV4c.2570A>T (p.Gln857Leu)
c.*1657A>T (n.*1657A>T)
c.2468A>T (p.Gln823Leu)
c.2390A>T (p.Gln797Leu)
c.*953A>T (n.*953A>T)
c.2429A>T (p.Gln810Leu)
c.2249A>T (p.Gln750Leu)
c.2723A>T (p.Gln908Leu)
c.2582A>T (p.Gln861Leu)
c.2543A>T (p.Gln848Leu)
c.2402A>T (p.Gln801Leu)
12g.109783667T>CCA386648381TRPV4c.2570A>G (p.Gln857Arg)
c.*1657A>G (n.*1657A>G)
c.2468A>G (p.Gln823Arg)
c.2390A>G (p.Gln797Arg)
c.*953A>G (n.*953A>G)
c.2429A>G (p.Gln810Arg)
c.2249A>G (p.Gln750Arg)
c.2723A>G (p.Gln908Arg)
c.2582A>G (p.Gln861Arg)
c.2543A>G (p.Gln848Arg)
c.2402A>G (p.Gln801Arg)
 ClinVar dbSNP
12g.109783667T>GCA386648382TRPV4c.2570A>C (p.Gln857Pro)
c.*1657A>C (n.*1657A>C)
c.2468A>C (p.Gln823Pro)
c.2390A>C (p.Gln797Pro)
c.*953A>C (n.*953A>C)
c.2429A>C (p.Gln810Pro)
c.2249A>C (p.Gln750Pro)
c.2723A>C (p.Gln908Pro)
c.2582A>C (p.Gln861Pro)
c.2543A>C (p.Gln848Pro)
c.2402A>C (p.Gln801Pro)
 dbSNP
12g.109783667T=CA2062557266TRPV4c.2570A= (p.Gln857=)
c.*1657A= (n.*1657A=)
c.2468A= (p.Gln823=)
c.2390A= (p.Gln797=)
c.*953A= (n.*953A=)
c.2429A= (p.Gln810=)
c.2249A= (p.Gln750=)
c.2723A= (p.Gln908=)
c.2582A= (p.Gln861=)
c.2543A= (p.Gln848=)
c.2402A= (p.Gln801=)
12g.109783668G>ACA386648384TRPV4c.2569C>T (p.Gln857Ter)
c.*1656C>T (n.*1656C>T)
c.2467C>T (p.Gln823Ter)
c.2389C>T (p.Gln797Ter)
c.*952C>T (n.*952C>T)
c.2428C>T (p.Gln810Ter)
c.2248C>T (p.Gln750Ter)
c.2722C>T (p.Gln908Ter)
c.2581C>T (p.Gln861Ter)
c.2542C>T (p.Gln848Ter)
c.2401C>T (p.Gln801Ter)
 gnomAD v4
12g.109783668G>CCA386648383TRPV4c.2569C>G (p.Gln857Glu)
c.*1656C>G (n.*1656C>G)
c.2467C>G (p.Gln823Glu)
c.2389C>G (p.Gln797Glu)
c.*952C>G (n.*952C>G)
c.2428C>G (p.Gln810Glu)
c.2248C>G (p.Gln750Glu)
c.2722C>G (p.Gln908Glu)
c.2581C>G (p.Gln861Glu)
c.2542C>G (p.Gln848Glu)
c.2401C>G (p.Gln801Glu)
12g.109783668G=CA2062557269TRPV4c.2569C= (p.Gln857=)
c.*1656C= (n.*1656C=)
c.2467C= (p.Gln823=)
c.2389C= (p.Gln797=)
c.*952C= (n.*952C=)
c.2428C= (p.Gln810=)
c.2248C= (p.Gln750=)
c.2722C= (p.Gln908=)
c.2581C= (p.Gln861=)
c.2542C= (p.Gln848=)
c.2401C= (p.Gln801=)
12g.109783668G>TCA6779856TRPV4c.2569C>A (p.Gln857Lys)
c.*1656C>A (n.*1656C>A)
c.2467C>A (p.Gln823Lys)
c.2389C>A (p.Gln797Lys)
c.*952C>A (n.*952C>A)
c.2428C>A (p.Gln810Lys)
c.2248C>A (p.Gln750Lys)
c.2722C>A (p.Gln908Lys)
c.2581C>A (p.Gln861Lys)
c.2542C>A (p.Gln848Lys)
c.2401C>A (p.Gln801Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783669G>ACA481723915TRPV4c.2568C>T (p.His856=)
c.*1655C>T (n.*1655C>T)
c.2466C>T (p.His822=)
c.2388C>T (p.His796=)
c.*951C>T (n.*951C>T)
c.2427C>T (p.His809=)
c.2247C>T (p.His749=)
c.2721C>T (p.His907=)
c.2580C>T (p.His860=)
c.2541C>T (p.His847=)
c.2400C>T (p.His800=)
 ClinVar dbSNP gnomAD v4
12g.109783669G>CCA386648385TRPV4c.2568C>G (p.His856Gln)
c.*1655C>G (n.*1655C>G)
c.2466C>G (p.His822Gln)
c.2388C>G (p.His796Gln)
c.*951C>G (n.*951C>G)
c.2427C>G (p.His809Gln)
c.2247C>G (p.His749Gln)
c.2721C>G (p.His907Gln)
c.2580C>G (p.His860Gln)
c.2541C>G (p.His847Gln)
c.2400C>G (p.His800Gln)
12g.109783669G>TCA386648386TRPV4c.2568C>A (p.His856Gln)
c.*1655C>A (n.*1655C>A)
c.2466C>A (p.His822Gln)
c.2388C>A (p.His796Gln)
c.*951C>A (n.*951C>A)
c.2427C>A (p.His809Gln)
c.2247C>A (p.His749Gln)
c.2721C>A (p.His907Gln)
c.2580C>A (p.His860Gln)
c.2541C>A (p.His847Gln)
c.2400C>A (p.His800Gln)
12g.109783670T>ACA386648387TRPV4c.2567A>T (p.His856Leu)
c.*1654A>T (n.*1654A>T)
c.2465A>T (p.His822Leu)
c.2387A>T (p.His796Leu)
c.*950A>T (n.*950A>T)
c.2426A>T (p.His809Leu)
c.2246A>T (p.His749Leu)
c.2720A>T (p.His907Leu)
c.2579A>T (p.His860Leu)
c.2540A>T (p.His847Leu)
c.2399A>T (p.His800Leu)
12g.109783670T>CCA386648388TRPV4c.2567A>G (p.His856Arg)
c.*1654A>G (n.*1654A>G)
c.2465A>G (p.His822Arg)
c.2387A>G (p.His796Arg)
c.*950A>G (n.*950A>G)
c.2426A>G (p.His809Arg)
c.2246A>G (p.His749Arg)
c.2720A>G (p.His907Arg)
c.2579A>G (p.His860Arg)
c.2540A>G (p.His847Arg)
c.2399A>G (p.His800Arg)
12g.109783670T>GCA386648389TRPV4c.2567A>C (p.His856Pro)
c.*1654A>C (n.*1654A>C)
c.2465A>C (p.His822Pro)
c.2387A>C (p.His796Pro)
c.*950A>C (n.*950A>C)
c.2426A>C (p.His809Pro)
c.2246A>C (p.His749Pro)
c.2720A>C (p.His907Pro)
c.2579A>C (p.His860Pro)
c.2540A>C (p.His847Pro)
c.2399A>C (p.His800Pro)
12g.109783671G>ACA386648390TRPV4c.2566C>T (p.His856Tyr)
c.*1653C>T (n.*1653C>T)
c.2464C>T (p.His822Tyr)
c.2386C>T (p.His796Tyr)
c.*949C>T (n.*949C>T)
c.2425C>T (p.His809Tyr)
c.2245C>T (p.His749Tyr)
c.2719C>T (p.His907Tyr)
c.2578C>T (p.His860Tyr)
c.2539C>T (p.His847Tyr)
c.2398C>T (p.His800Tyr)
12g.109783671G>CCA386648391TRPV4c.2566C>G (p.His856Asp)
c.*1653C>G (n.*1653C>G)
c.2464C>G (p.His822Asp)
c.2386C>G (p.His796Asp)
c.*949C>G (n.*949C>G)
c.2425C>G (p.His809Asp)
c.2245C>G (p.His749Asp)
c.2719C>G (p.His907Asp)
c.2578C>G (p.His860Asp)
c.2539C>G (p.His847Asp)
c.2398C>G (p.His800Asp)
12g.109783671G>TCA386648392TRPV4c.2566C>A (p.His856Asn)
c.*1653C>A (n.*1653C>A)
c.2464C>A (p.His822Asn)
c.2386C>A (p.His796Asn)
c.*949C>A (n.*949C>A)
c.2425C>A (p.His809Asn)
c.2245C>A (p.His749Asn)
c.2719C>A (p.His907Asn)
c.2578C>A (p.His860Asn)
c.2539C>A (p.His847Asn)
c.2398C>A (p.His800Asn)
12g.109783672G>ACA481723916TRPV4c.2565C>T (p.Gly855=)
c.*1652C>T (n.*1652C>T)
c.2463C>T (p.Gly821=)
c.2385C>T (p.Gly795=)
c.*948C>T (n.*948C>T)
c.2424C>T (p.Gly808=)
c.2244C>T (p.Gly748=)
c.2718C>T (p.Gly906=)
c.2577C>T (p.Gly859=)
c.2538C>T (p.Gly846=)
c.2397C>T (p.Gly799=)
 gnomAD v4
12g.109783672G>CCA481723917TRPV4c.2565C>G (p.Gly855=)
c.*1652C>G (n.*1652C>G)
c.2463C>G (p.Gly821=)
c.2385C>G (p.Gly795=)
c.*948C>G (n.*948C>G)
c.2424C>G (p.Gly808=)
c.2244C>G (p.Gly748=)
c.2718C>G (p.Gly906=)
c.2577C>G (p.Gly859=)
c.2538C>G (p.Gly846=)
c.2397C>G (p.Gly799=)
12g.109783672G>TCA481723918TRPV4c.2565C>A (p.Gly855=)
c.*1652C>A (n.*1652C>A)
c.2463C>A (p.Gly821=)
c.2385C>A (p.Gly795=)
c.*948C>A (n.*948C>A)
c.2424C>A (p.Gly808=)
c.2244C>A (p.Gly748=)
c.2718C>A (p.Gly906=)
c.2577C>A (p.Gly859=)
c.2538C>A (p.Gly846=)
c.2397C>A (p.Gly799=)
12g.109783673C>ACA386648393TRPV4c.2564G>T (p.Gly855Val)
c.*1651G>T (n.*1651G>T)
c.2462G>T (p.Gly821Val)
c.2384G>T (p.Gly795Val)
c.*947G>T (n.*947G>T)
c.2423G>T (p.Gly808Val)
c.2243G>T (p.Gly748Val)
c.2717G>T (p.Gly906Val)
c.2576G>T (p.Gly859Val)
c.2537G>T (p.Gly846Val)
c.2396G>T (p.Gly799Val)
12g.109783673C>GCA386648394TRPV4c.2564G>C (p.Gly855Ala)
c.*1651G>C (n.*1651G>C)
c.2462G>C (p.Gly821Ala)
c.2384G>C (p.Gly795Ala)
c.*947G>C (n.*947G>C)
c.2423G>C (p.Gly808Ala)
c.2243G>C (p.Gly748Ala)
c.2717G>C (p.Gly906Ala)
c.2576G>C (p.Gly859Ala)
c.2537G>C (p.Gly846Ala)
c.2396G>C (p.Gly799Ala)
 ClinVar
12g.109783673C>TCA386648395TRPV4c.2564G>A (p.Gly855Asp)
c.*1651G>A (n.*1651G>A)
c.2462G>A (p.Gly821Asp)
c.2384G>A (p.Gly795Asp)
c.*947G>A (n.*947G>A)
c.2423G>A (p.Gly808Asp)
c.2243G>A (p.Gly748Asp)
c.2717G>A (p.Gly906Asp)
c.2576G>A (p.Gly859Asp)
c.2537G>A (p.Gly846Asp)
c.2396G>A (p.Gly799Asp)
12g.109783674C>ACA386648396TRPV4c.2563G>T (p.Gly855Cys)
c.*1650G>T (n.*1650G>T)
c.2461G>T (p.Gly821Cys)
c.2383G>T (p.Gly795Cys)
c.*946G>T (n.*946G>T)
c.2422G>T (p.Gly808Cys)
c.2242G>T (p.Gly748Cys)
c.2716G>T (p.Gly906Cys)
c.2575G>T (p.Gly859Cys)
c.2536G>T (p.Gly846Cys)
c.2395G>T (p.Gly799Cys)
12g.109783674C>GCA386648397TRPV4c.2563G>C (p.Gly855Arg)
c.*1650G>C (n.*1650G>C)
c.2461G>C (p.Gly821Arg)
c.2383G>C (p.Gly795Arg)
c.*946G>C (n.*946G>C)
c.2422G>C (p.Gly808Arg)
c.2242G>C (p.Gly748Arg)
c.2716G>C (p.Gly906Arg)
c.2575G>C (p.Gly859Arg)
c.2536G>C (p.Gly846Arg)
c.2395G>C (p.Gly799Arg)
12g.109783674C>TCA386648398TRPV4c.2563G>A (p.Gly855Ser)
c.*1650G>A (n.*1650G>A)
c.2461G>A (p.Gly821Ser)
c.2383G>A (p.Gly795Ser)
c.*946G>A (n.*946G>A)
c.2422G>A (p.Gly808Ser)
c.2242G>A (p.Gly748Ser)
c.2716G>A (p.Gly906Ser)
c.2575G>A (p.Gly859Ser)
c.2536G>A (p.Gly846Ser)
c.2395G>A (p.Gly799Ser)
12g.109783675A>CCA386648399TRPV4c.2562T>G (p.Asp854Glu)
c.*1649T>G (n.*1649T>G)
c.2460T>G (p.Asp820Glu)
c.2382T>G (p.Asp794Glu)
c.*945T>G (n.*945T>G)
c.2421T>G (p.Asp807Glu)
c.2241T>G (p.Asp747Glu)
c.2715T>G (p.Asp905Glu)
c.2574T>G (p.Asp858Glu)
c.2535T>G (p.Asp845Glu)
c.2394T>G (p.Asp798Glu)
12g.109783675A>GCA481723919TRPV4c.2562T>C (p.Asp854=)
c.*1649T>C (n.*1649T>C)
c.2460T>C (p.Asp820=)
c.2382T>C (p.Asp794=)
c.*945T>C (n.*945T>C)
c.2421T>C (p.Asp807=)
c.2241T>C (p.Asp747=)
c.2715T>C (p.Asp905=)
c.2574T>C (p.Asp858=)
c.2535T>C (p.Asp845=)
c.2394T>C (p.Asp798=)
 gnomAD v4
12g.109783675A>TCA386648400TRPV4c.2562T>A (p.Asp854Glu)
c.*1649T>A (n.*1649T>A)
c.2460T>A (p.Asp820Glu)
c.2382T>A (p.Asp794Glu)
c.*945T>A (n.*945T>A)
c.2421T>A (p.Asp807Glu)
c.2241T>A (p.Asp747Glu)
c.2715T>A (p.Asp905Glu)
c.2574T>A (p.Asp858Glu)
c.2535T>A (p.Asp845Glu)
c.2394T>A (p.Asp798Glu)
12g.109783676T>ACA386648401TRPV4c.2561A>T (p.Asp854Val)
c.*1648A>T (n.*1648A>T)
c.2459A>T (p.Asp820Val)
c.2381A>T (p.Asp794Val)
c.*944A>T (n.*944A>T)
c.2420A>T (p.Asp807Val)
c.2240A>T (p.Asp747Val)
c.2714A>T (p.Asp905Val)
c.2573A>T (p.Asp858Val)
c.2534A>T (p.Asp845Val)
c.2393A>T (p.Asp798Val)
12g.109783676T>CCA386648402TRPV4c.2561A>G (p.Asp854Gly)
c.*1648A>G (n.*1648A>G)
c.2459A>G (p.Asp820Gly)
c.2381A>G (p.Asp794Gly)
c.*944A>G (n.*944A>G)
c.2420A>G (p.Asp807Gly)
c.2240A>G (p.Asp747Gly)
c.2714A>G (p.Asp905Gly)
c.2573A>G (p.Asp858Gly)
c.2534A>G (p.Asp845Gly)
c.2393A>G (p.Asp798Gly)
 gnomAD v4
12g.109783676T>GCA386648403TRPV4c.2561A>C (p.Asp854Ala)
c.*1648A>C (n.*1648A>C)
c.2459A>C (p.Asp820Ala)
c.2381A>C (p.Asp794Ala)
c.*944A>C (n.*944A>C)
c.2420A>C (p.Asp807Ala)
c.2240A>C (p.Asp747Ala)
c.2714A>C (p.Asp905Ala)
c.2573A>C (p.Asp858Ala)
c.2534A>C (p.Asp845Ala)
c.2393A>C (p.Asp798Ala)
12g.109783677C>ACA386648404TRPV4c.2560G>T (p.Asp854Tyr)
c.*1647G>T (n.*1647G>T)
c.2458G>T (p.Asp820Tyr)
c.2380G>T (p.Asp794Tyr)
c.*943G>T (n.*943G>T)
c.2419G>T (p.Asp807Tyr)
c.2239G>T (p.Asp747Tyr)
c.2713G>T (p.Asp905Tyr)
c.2572G>T (p.Asp858Tyr)
c.2533G>T (p.Asp845Tyr)
c.2392G>T (p.Asp798Tyr)
 COSMIC
12g.109783677C=CA2062557273TRPV4c.2560G= (p.Asp854=)
c.*1647G= (n.*1647G=)
c.2458G= (p.Asp820=)
c.2380G= (p.Asp794=)
c.*943G= (n.*943G=)
c.2419G= (p.Asp807=)
c.2239G= (p.Asp747=)
c.2713G= (p.Asp905=)
c.2572G= (p.Asp858=)
c.2533G= (p.Asp845=)
c.2392G= (p.Asp798=)
12g.109783677C>GCA386648405TRPV4c.2560G>C (p.Asp854His)
c.*1647G>C (n.*1647G>C)
c.2458G>C (p.Asp820His)
c.2380G>C (p.Asp794His)
c.*943G>C (n.*943G>C)
c.2419G>C (p.Asp807His)
c.2239G>C (p.Asp747His)
c.2713G>C (p.Asp905His)
c.2572G>C (p.Asp858His)
c.2533G>C (p.Asp845His)
c.2392G>C (p.Asp798His)
 ClinVar dbSNP
12g.109783677C>TCA6779857TRPV4c.2560G>A (p.Asp854Asn)
c.*1647G>A (n.*1647G>A)
c.2458G>A (p.Asp820Asn)
c.2380G>A (p.Asp794Asn)
c.*943G>A (n.*943G>A)
c.2419G>A (p.Asp807Asn)
c.2239G>A (p.Asp747Asn)
c.2713G>A (p.Asp905Asn)
c.2572G>A (p.Asp858Asn)
c.2533G>A (p.Asp845Asn)
c.2392G>A (p.Asp798Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783678G>ACA6779858TRPV4c.2559C>T (p.Cys853=)
c.*1646C>T (n.*1646C>T)
c.2457C>T (p.Cys819=)
c.2379C>T (p.Cys793=)
c.*942C>T (n.*942C>T)
c.2418C>T (p.Cys806=)
c.2238C>T (p.Cys746=)
c.2712C>T (p.Cys904=)
c.2571C>T (p.Cys857=)
c.2532C>T (p.Cys844=)
c.2391C>T (p.Cys797=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783678G>CCA6779859TRPV4c.2559C>G (p.Cys853Trp)
c.*1646C>G (n.*1646C>G)
c.2457C>G (p.Cys819Trp)
c.2379C>G (p.Cys793Trp)
c.*942C>G (n.*942C>G)
c.2418C>G (p.Cys806Trp)
c.2238C>G (p.Cys746Trp)
c.2712C>G (p.Cys904Trp)
c.2571C>G (p.Cys857Trp)
c.2532C>G (p.Cys844Trp)
c.2391C>G (p.Cys797Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.109783678G=CA2062557278TRPV4c.2559C= (p.Cys853=)
c.*1646C= (n.*1646C=)
c.2457C= (p.Cys819=)
c.2379C= (p.Cys793=)
c.*942C= (n.*942C=)
c.2418C= (p.Cys806=)
c.2238C= (p.Cys746=)
c.2712C= (p.Cys904=)
c.2571C= (p.Cys857=)
c.2532C= (p.Cys844=)
c.2391C= (p.Cys797=)
12g.109783678G>TCA386648406TRPV4c.2559C>A (p.Cys853Ter)
c.*1646C>A (n.*1646C>A)
c.2457C>A (p.Cys819Ter)
c.2379C>A (p.Cys793Ter)
c.*942C>A (n.*942C>A)
c.2418C>A (p.Cys806Ter)
c.2238C>A (p.Cys746Ter)
c.2712C>A (p.Cys904Ter)
c.2571C>A (p.Cys857Ter)
c.2532C>A (p.Cys844Ter)
c.2391C>A (p.Cys797Ter)
12g.109783679C>ACA386648407TRPV4c.2558G>T (p.Cys853Phe)
c.*1645G>T (n.*1645G>T)
c.2456G>T (p.Cys819Phe)
c.2378G>T (p.Cys793Phe)
c.*941G>T (n.*941G>T)
c.2417G>T (p.Cys806Phe)
c.2237G>T (p.Cys746Phe)
c.2711G>T (p.Cys904Phe)
c.2570G>T (p.Cys857Phe)
c.2531G>T (p.Cys844Phe)
c.2390G>T (p.Cys797Phe)
12g.109783679C=CA2062557284TRPV4c.2558G= (p.Cys853=)
c.*1645G= (n.*1645G=)
c.2456G= (p.Cys819=)
c.2378G= (p.Cys793=)
c.*941G= (n.*941G=)
c.2417G= (p.Cys806=)
c.2237G= (p.Cys746=)
c.2711G= (p.Cys904=)
c.2570G= (p.Cys857=)
c.2531G= (p.Cys844=)
c.2390G= (p.Cys797=)
12g.109783679C>GCA386648408TRPV4c.2558G>C (p.Cys853Ser)
c.*1645G>C (n.*1645G>C)
c.2456G>C (p.Cys819Ser)
c.2378G>C (p.Cys793Ser)
c.*941G>C (n.*941G>C)
c.2417G>C (p.Cys806Ser)
c.2237G>C (p.Cys746Ser)
c.2711G>C (p.Cys904Ser)
c.2570G>C (p.Cys857Ser)
c.2531G>C (p.Cys844Ser)
c.2390G>C (p.Cys797Ser)
12g.109783679C>TCA6779860TRPV4c.2558G>A (p.Cys853Tyr)
c.*1645G>A (n.*1645G>A)
c.2456G>A (p.Cys819Tyr)
c.2378G>A (p.Cys793Tyr)
c.*941G>A (n.*941G>A)
c.2417G>A (p.Cys806Tyr)
c.2237G>A (p.Cys746Tyr)
c.2711G>A (p.Cys904Tyr)
c.2570G>A (p.Cys857Tyr)
c.2531G>A (p.Cys844Tyr)
c.2390G>A (p.Cys797Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.109783680A>CCA386648410TRPV4c.2557T>G (p.Cys853Gly)
c.*1644T>G (n.*1644T>G)
c.2455T>G (p.Cys819Gly)
c.2377T>G (p.Cys793Gly)
c.*940T>G (n.*940T>G)
c.2416T>G (p.Cys806Gly)
c.2236T>G (p.Cys746Gly)
c.2710T>G (p.Cys904Gly)
c.2569T>G (p.Cys857Gly)
c.2530T>G (p.Cys844Gly)
c.2389T>G (p.Cys797Gly)
12g.109783680A>GCA386648411TRPV4c.2557T>C (p.Cys853Arg)
c.*1644T>C (n.*1644T>C)
c.2455T>C (p.Cys819Arg)
c.2377T>C (p.Cys793Arg)
c.*940T>C (n.*940T>C)
c.2416T>C (p.Cys806Arg)
c.2236T>C (p.Cys746Arg)
c.2710T>C (p.Cys904Arg)
c.2569T>C (p.Cys857Arg)
c.2530T>C (p.Cys844Arg)
c.2389T>C (p.Cys797Arg)
12g.109783680A>TCA386648409TRPV4c.2557T>A (p.Cys853Ser)
c.*1644T>A (n.*1644T>A)
c.2455T>A (p.Cys819Ser)
c.2377T>A (p.Cys793Ser)
c.*940T>A (n.*940T>A)
c.2416T>A (p.Cys806Ser)
c.2236T>A (p.Cys746Ser)
c.2710T>A (p.Cys904Ser)
c.2569T>A (p.Cys857Ser)
c.2530T>A (p.Cys844Ser)
c.2389T>A (p.Cys797Ser)
12g.109783681G>ACA481723922TRPV4c.2556C>T (p.Arg852=)
c.*1643C>T (n.*1643C>T)
c.2454C>T (p.Arg818=)
c.2376C>T (p.Arg792=)
c.*939C>T (n.*939C>T)
c.2415C>T (p.Arg805=)
c.2235C>T (p.Arg745=)
c.2709C>T (p.Arg903=)
c.2568C>T (p.Arg856=)
c.2529C>T (p.Arg843=)
c.2388C>T (p.Arg796=)
 gnomAD v4
12g.109783681G>CCA481723921TRPV4c.2556C>G (p.Arg852=)
c.*1643C>G (n.*1643C>G)
c.2454C>G (p.Arg818=)
c.2376C>G (p.Arg792=)
c.*939C>G (n.*939C>G)
c.2415C>G (p.Arg805=)
c.2235C>G (p.Arg745=)
c.2709C>G (p.Arg903=)
c.2568C>G (p.Arg856=)
c.2529C>G (p.Arg843=)
c.2388C>G (p.Arg796=)
12g.109783681G>TCA481723920TRPV4c.2556C>A (p.Arg852=)
c.*1643C>A (n.*1643C>A)
c.2454C>A (p.Arg818=)
c.2376C>A (p.Arg792=)
c.*939C>A (n.*939C>A)
c.2415C>A (p.Arg805=)
c.2235C>A (p.Arg745=)
c.2709C>A (p.Arg903=)
c.2568C>A (p.Arg856=)
c.2529C>A (p.Arg843=)
c.2388C>A (p.Arg796=)
12g.109783682C>ACA386648412TRPV4c.2555G>T (p.Arg852Leu)
c.*1642G>T (n.*1642G>T)
c.2453G>T (p.Arg818Leu)
c.2375G>T (p.Arg792Leu)
c.*938G>T (n.*938G>T)
c.2414G>T (p.Arg805Leu)
c.2234G>T (p.Arg745Leu)
c.2708G>T (p.Arg903Leu)
c.2567G>T (p.Arg856Leu)
c.2528G>T (p.Arg843Leu)
c.2387G>T (p.Arg796Leu)
 COSMIC
12g.109783682C=CA2062557289TRPV4c.2555G= (p.Arg852=)
c.*1642G= (n.*1642G=)
c.2453G= (p.Arg818=)
c.2375G= (p.Arg792=)
c.*938G= (n.*938G=)
c.2414G= (p.Arg805=)
c.2234G= (p.Arg745=)
c.2708G= (p.Arg903=)
c.2567G= (p.Arg856=)
c.2528G= (p.Arg843=)
c.2387G= (p.Arg796=)
12g.109783682C>GCA386648413TRPV4c.2555G>C (p.Arg852Pro)
c.*1642G>C (n.*1642G>C)
c.2453G>C (p.Arg818Pro)
c.2375G>C (p.Arg792Pro)
c.*938G>C (n.*938G>C)
c.2414G>C (p.Arg805Pro)
c.2234G>C (p.Arg745Pro)
c.2708G>C (p.Arg903Pro)
c.2567G>C (p.Arg856Pro)
c.2528G>C (p.Arg843Pro)
c.2387G>C (p.Arg796Pro)
12g.109783682C>TCA386648414TRPV4c.2555G>A (p.Arg852His)
c.*1642G>A (n.*1642G>A)
c.2453G>A (p.Arg818His)
c.2375G>A (p.Arg792His)
c.*938G>A (n.*938G>A)
c.2414G>A (p.Arg805His)
c.2234G>A (p.Arg745His)
c.2708G>A (p.Arg903His)
c.2567G>A (p.Arg856His)
c.2528G>A (p.Arg843His)
c.2387G>A (p.Arg796His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.109783683G>ACA6779861TRPV4c.2554C>T (p.Arg852Cys)
c.*1641C>T (n.*1641C>T)
c.2452C>T (p.Arg818Cys)
c.2374C>T (p.Arg792Cys)
c.*937C>T (n.*937C>T)
c.2413C>T (p.Arg805Cys)
c.2233C>T (p.Arg745Cys)
c.2707C>T (p.Arg903Cys)
c.2566C>T (p.Arg856Cys)
c.2527C>T (p.Arg843Cys)
c.2386C>T (p.Arg796Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783683G>CCA386648415TRPV4c.2554C>G (p.Arg852Gly)
c.*1641C>G (n.*1641C>G)
c.2452C>G (p.Arg818Gly)
c.2374C>G (p.Arg792Gly)
c.*937C>G (n.*937C>G)
c.2413C>G (p.Arg805Gly)
c.2233C>G (p.Arg745Gly)
c.2707C>G (p.Arg903Gly)
c.2566C>G (p.Arg856Gly)
c.2527C>G (p.Arg843Gly)
c.2386C>G (p.Arg796Gly)
12g.109783683G=CA2062557294TRPV4c.2554C= (p.Arg852=)
c.*1641C= (n.*1641C=)
c.2452C= (p.Arg818=)
c.2374C= (p.Arg792=)
c.*937C= (n.*937C=)
c.2413C= (p.Arg805=)
c.2233C= (p.Arg745=)
c.2707C= (p.Arg903=)
c.2566C= (p.Arg856=)
c.2527C= (p.Arg843=)
c.2386C= (p.Arg796=)
12g.109783683G>TCA386648416TRPV4c.2554C>A (p.Arg852Ser)
c.*1641C>A (n.*1641C>A)
c.2452C>A (p.Arg818Ser)
c.2374C>A (p.Arg792Ser)
c.*937C>A (n.*937C>A)
c.2413C>A (p.Arg805Ser)
c.2233C>A (p.Arg745Ser)
c.2707C>A (p.Arg903Ser)
c.2566C>A (p.Arg856Ser)
c.2527C>A (p.Arg843Ser)
c.2386C>A (p.Arg796Ser)
12g.109783687dupCA2573053594TRPV4c.2554dup (p.Arg852ProfsTer16)
c.*1641dup (n.*1641dup)
c.2452dup (p.Arg818ProfsTer16)
c.2374dup (p.Arg792ProfsTer16)
c.*937dup (n.*937dup)
c.2413dup (p.Arg805ProfsTer16)
c.2233dup (p.Arg745ProfsTer16)
c.2707dup (p.Arg903ProfsTer16)
c.2566dup (p.Arg856ProfsTer16)
c.2527dup (p.Arg843ProfsTer16)
c.2386dup (p.Arg796ProfsTer16)
 ClinVar dbSNP
12g.109783684G>ACA481723923TRPV4c.2553C>T (p.Pro851=)
c.*1640C>T (n.*1640C>T)
c.2451C>T (p.Pro817=)
c.2373C>T (p.Pro791=)
c.*936C>T (n.*936C>T)
c.2412C>T (p.Pro804=)
c.2232C>T (p.Pro744=)
c.2706C>T (p.Pro902=)
c.2565C>T (p.Pro855=)
c.2526C>T (p.Pro842=)
c.2385C>T (p.Pro795=)
12g.109783684G>CCA481723924TRPV4c.2553C>G (p.Pro851=)
c.*1640C>G (n.*1640C>G)
c.2451C>G (p.Pro817=)
c.2373C>G (p.Pro791=)
c.*936C>G (n.*936C>G)
c.2412C>G (p.Pro804=)
c.2232C>G (p.Pro744=)
c.2706C>G (p.Pro902=)
c.2565C>G (p.Pro855=)
c.2526C>G (p.Pro842=)
c.2385C>G (p.Pro795=)
12g.109783684G>TCA481723925TRPV4c.2553C>A (p.Pro851=)
c.*1640C>A (n.*1640C>A)
c.2451C>A (p.Pro817=)
c.2373C>A (p.Pro791=)
c.*936C>A (n.*936C>A)
c.2412C>A (p.Pro804=)
c.2232C>A (p.Pro744=)
c.2706C>A (p.Pro902=)
c.2565C>A (p.Pro855=)
c.2526C>A (p.Pro842=)
c.2385C>A (p.Pro795=)
12g.109783685G>ACA386648419TRPV4c.2552C>T (p.Pro851Leu)
c.*1639C>T (n.*1639C>T)
c.2450C>T (p.Pro817Leu)
c.2372C>T (p.Pro791Leu)
c.*935C>T (n.*935C>T)
c.2411C>T (p.Pro804Leu)
c.2231C>T (p.Pro744Leu)
c.2705C>T (p.Pro902Leu)
c.2564C>T (p.Pro855Leu)
c.2525C>T (p.Pro842Leu)
c.2384C>T (p.Pro795Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.109783685G>CCA386648417TRPV4c.2552C>G (p.Pro851Arg)
c.*1639C>G (n.*1639C>G)
c.2450C>G (p.Pro817Arg)
c.2372C>G (p.Pro791Arg)
c.*935C>G (n.*935C>G)
c.2411C>G (p.Pro804Arg)
c.2231C>G (p.Pro744Arg)
c.2705C>G (p.Pro902Arg)
c.2564C>G (p.Pro855Arg)
c.2525C>G (p.Pro842Arg)
c.2384C>G (p.Pro795Arg)
 gnomAD v4
12g.109783685G=CA2062557298TRPV4c.2552C= (p.Pro851=)
c.*1639C= (n.*1639C=)
c.2450C= (p.Pro817=)
c.2372C= (p.Pro791=)
c.*935C= (n.*935C=)
c.2411C= (p.Pro804=)
c.2231C= (p.Pro744=)
c.2705C= (p.Pro902=)
c.2564C= (p.Pro855=)
c.2525C= (p.Pro842=)
c.2384C= (p.Pro795=)
12g.109783685G>TCA386648418TRPV4c.2552C>A (p.Pro851His)
c.*1639C>A (n.*1639C>A)
c.2450C>A (p.Pro817His)
c.2372C>A (p.Pro791His)
c.*935C>A (n.*935C>A)
c.2411C>A (p.Pro804His)
c.2231C>A (p.Pro744His)
c.2705C>A (p.Pro902His)
c.2564C>A (p.Pro855His)
c.2525C>A (p.Pro842His)
c.2384C>A (p.Pro795His)
12g.109783686G>ACA386648420TRPV4c.2551C>T (p.Pro851Ser)
c.*1638C>T (n.*1638C>T)
c.2449C>T (p.Pro817Ser)
c.2371C>T (p.Pro791Ser)
c.*934C>T (n.*934C>T)
c.2410C>T (p.Pro804Ser)
c.2230C>T (p.Pro744Ser)
c.2704C>T (p.Pro902Ser)
c.2563C>T (p.Pro855Ser)
c.2524C>T (p.Pro842Ser)
c.2383C>T (p.Pro795Ser)
 gnomAD v4
12g.109783686G>CCA386648421TRPV4c.2551C>G (p.Pro851Ala)
c.*1638C>G (n.*1638C>G)
c.2449C>G (p.Pro817Ala)
c.2371C>G (p.Pro791Ala)
c.*934C>G (n.*934C>G)
c.2410C>G (p.Pro804Ala)
c.2230C>G (p.Pro744Ala)
c.2704C>G (p.Pro902Ala)
c.2563C>G (p.Pro855Ala)
c.2524C>G (p.Pro842Ala)
c.2383C>G (p.Pro795Ala)
12g.109783686G>TCA386648422TRPV4c.2551C>A (p.Pro851Thr)
c.*1638C>A (n.*1638C>A)
c.2449C>A (p.Pro817Thr)
c.2371C>A (p.Pro791Thr)
c.*934C>A (n.*934C>A)
c.2410C>A (p.Pro804Thr)
c.2230C>A (p.Pro744Thr)
c.2704C>A (p.Pro902Thr)
c.2563C>A (p.Pro855Thr)
c.2524C>A (p.Pro842Thr)
c.2383C>A (p.Pro795Thr)
12g.109783687G>ACA6779862TRPV4c.2550C>T (p.Asn850=)
c.*1637C>T (n.*1637C>T)
c.2448C>T (p.Asn816=)
c.2370C>T (p.Asn790=)
c.*933C>T (n.*933C>T)
c.2409C>T (p.Asn803=)
c.2229C>T (p.Asn743=)
c.2703C>T (p.Asn901=)
c.2562C>T (p.Asn854=)
c.2523C>T (p.Asn841=)
c.2382C>T (p.Asn794=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783687G>CCA386648423TRPV4c.2550C>G (p.Asn850Lys)
c.*1637C>G (n.*1637C>G)
c.2448C>G (p.Asn816Lys)
c.2370C>G (p.Asn790Lys)
c.*933C>G (n.*933C>G)
c.2409C>G (p.Asn803Lys)
c.2229C>G (p.Asn743Lys)
c.2703C>G (p.Asn901Lys)
c.2562C>G (p.Asn854Lys)
c.2523C>G (p.Asn841Lys)
c.2382C>G (p.Asn794Lys)
 COSMIC
12g.109783687G=CA2062557300TRPV4c.2550C= (p.Asn850=)
c.*1637C= (n.*1637C=)
c.2448C= (p.Asn816=)
c.2370C= (p.Asn790=)
c.*933C= (n.*933C=)
c.2409C= (p.Asn803=)
c.2229C= (p.Asn743=)
c.2703C= (p.Asn901=)
c.2562C= (p.Asn854=)
c.2523C= (p.Asn841=)
c.2382C= (p.Asn794=)
12g.109783687G>TCA386648424TRPV4c.2550C>A (p.Asn850Lys)
c.*1637C>A (n.*1637C>A)
c.2448C>A (p.Asn816Lys)
c.2370C>A (p.Asn790Lys)
c.*933C>A (n.*933C>A)
c.2409C>A (p.Asn803Lys)
c.2229C>A (p.Asn743Lys)
c.2703C>A (p.Asn901Lys)
c.2562C>A (p.Asn854Lys)
c.2523C>A (p.Asn841Lys)
c.2382C>A (p.Asn794Lys)
 ClinVar dbSNP
12g.109783688T>ACA386648425TRPV4c.2549A>T (p.Asn850Ile)
c.*1636A>T (n.*1636A>T)
c.2447A>T (p.Asn816Ile)
c.2369A>T (p.Asn790Ile)
c.*932A>T (n.*932A>T)
c.2408A>T (p.Asn803Ile)
c.2228A>T (p.Asn743Ile)
c.2702A>T (p.Asn901Ile)
c.2561A>T (p.Asn854Ile)
c.2522A>T (p.Asn841Ile)
c.2381A>T (p.Asn794Ile)
12g.109783688T>CCA386648427TRPV4c.2549A>G (p.Asn850Ser)
c.*1636A>G (n.*1636A>G)
c.2447A>G (p.Asn816Ser)
c.2369A>G (p.Asn790Ser)
c.*932A>G (n.*932A>G)
c.2408A>G (p.Asn803Ser)
c.2228A>G (p.Asn743Ser)
c.2702A>G (p.Asn901Ser)
c.2561A>G (p.Asn854Ser)
c.2522A>G (p.Asn841Ser)
c.2381A>G (p.Asn794Ser)
12g.109783688T>GCA386648426TRPV4c.2549A>C (p.Asn850Thr)
c.*1636A>C (n.*1636A>C)
c.2447A>C (p.Asn816Thr)
c.2369A>C (p.Asn790Thr)
c.*932A>C (n.*932A>C)
c.2408A>C (p.Asn803Thr)
c.2228A>C (p.Asn743Thr)
c.2702A>C (p.Asn901Thr)
c.2561A>C (p.Asn854Thr)
c.2522A>C (p.Asn841Thr)
c.2381A>C (p.Asn794Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109783688T=CA2062557302TRPV4c.2549A= (p.Asn850=)
c.*1636A= (n.*1636A=)
c.2447A= (p.Asn816=)
c.2369A= (p.Asn790=)
c.*932A= (n.*932A=)
c.2408A= (p.Asn803=)
c.2228A= (p.Asn743=)
c.2702A= (p.Asn901=)
c.2561A= (p.Asn854=)
c.2522A= (p.Asn841=)
c.2381A= (p.Asn794=)
12g.109783689T>ACA386648428TRPV4c.2548A>T (p.Asn850Tyr)
c.*1635A>T (n.*1635A>T)
c.2446A>T (p.Asn816Tyr)
c.2368A>T (p.Asn790Tyr)
c.*931A>T (n.*931A>T)
c.2407A>T (p.Asn803Tyr)
c.2227A>T (p.Asn743Tyr)
c.2701A>T (p.Asn901Tyr)
c.2560A>T (p.Asn854Tyr)
c.2521A>T (p.Asn841Tyr)
c.2380A>T (p.Asn794Tyr)
12g.109783689T>CCA386648429TRPV4c.2548A>G (p.Asn850Asp)
c.*1635A>G (n.*1635A>G)
c.2446A>G (p.Asn816Asp)
c.2368A>G (p.Asn790Asp)
c.*931A>G (n.*931A>G)
c.2407A>G (p.Asn803Asp)
c.2227A>G (p.Asn743Asp)
c.2701A>G (p.Asn901Asp)
c.2560A>G (p.Asn854Asp)
c.2521A>G (p.Asn841Asp)
c.2380A>G (p.Asn794Asp)
12g.109783689T>GCA386648430TRPV4c.2548A>C (p.Asn850His)
c.*1635A>C (n.*1635A>C)
c.2446A>C (p.Asn816His)
c.2368A>C (p.Asn790His)
c.*931A>C (n.*931A>C)
c.2407A>C (p.Asn803His)
c.2227A>C (p.Asn743His)
c.2701A>C (p.Asn901His)
c.2560A>C (p.Asn854His)
c.2521A>C (p.Asn841His)
c.2380A>C (p.Asn794His)
 gnomAD v4
12g.109783690C>ACA481723926TRPV4c.2547G>T (p.Gly849=)
c.*1634G>T (n.*1634G>T)
c.2445G>T (p.Gly815=)
c.2367G>T (p.Gly789=)
c.*930G>T (n.*930G>T)
c.2406G>T (p.Gly802=)
c.2226G>T (p.Gly742=)
c.2700G>T (p.Gly900=)
c.2559G>T (p.Gly853=)
c.2520G>T (p.Gly840=)
c.2379G>T (p.Gly793=)
12g.109783690C=CA2062557304TRPV4c.2547G= (p.Gly849=)
c.*1634G= (n.*1634G=)
c.2445G= (p.Gly815=)
c.2367G= (p.Gly789=)
c.*930G= (n.*930G=)
c.2406G= (p.Gly802=)
c.2226G= (p.Gly742=)
c.2700G= (p.Gly900=)
c.2559G= (p.Gly853=)
c.2520G= (p.Gly840=)
c.2379G= (p.Gly793=)
12g.109783690C>GCA481723927TRPV4c.2547G>C (p.Gly849=)
c.*1634G>C (n.*1634G>C)
c.2445G>C (p.Gly815=)
c.2367G>C (p.Gly789=)
c.*930G>C (n.*930G>C)
c.2406G>C (p.Gly802=)
c.2226G>C (p.Gly742=)
c.2700G>C (p.Gly900=)
c.2559G>C (p.Gly853=)
c.2520G>C (p.Gly840=)
c.2379G>C (p.Gly793=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109783690C>TCA481723928TRPV4c.2547G>A (p.Gly849=)
c.*1634G>A (n.*1634G>A)
c.2445G>A (p.Gly815=)
c.2367G>A (p.Gly789=)
c.*930G>A (n.*930G>A)
c.2406G>A (p.Gly802=)
c.2226G>A (p.Gly742=)
c.2700G>A (p.Gly900=)
c.2559G>A (p.Gly853=)
c.2520G>A (p.Gly840=)
c.2379G>A (p.Gly793=)
12g.109783693delCA2620825360TRPV4c.2547del (p.Asn850ThrfsTer?)
c.*1634del (n.*1634del)
c.2445del (p.Asn816ThrfsTer?)
c.2367del (p.Asn790ThrfsTer?)
c.*930del (n.*930del)
c.2406del (p.Asn803ThrfsTer?)
c.2226del (p.Asn743ThrfsTer?)
c.2700del (p.Asn901ThrfsTer?)
c.2559del (p.Asn854ThrfsTer?)
c.2520del (p.Asn841ThrfsTer?)
c.2379del (p.Asn794ThrfsTer?)
 gnomAD v4
12g.109783691C>ACA386648431TRPV4c.2546G>T (p.Gly849Val)
c.*1633G>T (n.*1633G>T)
c.2444G>T (p.Gly815Val)
c.2366G>T (p.Gly789Val)
c.*929G>T (n.*929G>T)
c.2405G>T (p.Gly802Val)
c.2225G>T (p.Gly742Val)
c.2699G>T (p.Gly900Val)
c.2558G>T (p.Gly853Val)
c.2519G>T (p.Gly840Val)
c.2378G>T (p.Gly793Val)
12g.109783691C>GCA386648432TRPV4c.2546G>C (p.Gly849Ala)
c.*1633G>C (n.*1633G>C)
c.2444G>C (p.Gly815Ala)
c.2366G>C (p.Gly789Ala)
c.*929G>C (n.*929G>C)
c.2405G>C (p.Gly802Ala)
c.2225G>C (p.Gly742Ala)
c.2699G>C (p.Gly900Ala)
c.2558G>C (p.Gly853Ala)
c.2519G>C (p.Gly840Ala)
c.2378G>C (p.Gly793Ala)
12g.109783691C>TCA386648433TRPV4c.2546G>A (p.Gly849Glu)
c.*1633G>A (n.*1633G>A)
c.2444G>A (p.Gly815Glu)
c.2366G>A (p.Gly789Glu)
c.*929G>A (n.*929G>A)
c.2405G>A (p.Gly802Glu)
c.2225G>A (p.Gly742Glu)
c.2699G>A (p.Gly900Glu)
c.2558G>A (p.Gly853Glu)
c.2519G>A (p.Gly840Glu)
c.2378G>A (p.Gly793Glu)
12g.109783692C>ACA386648434TRPV4c.2545G>T (p.Gly849Trp)
c.*1632G>T (n.*1632G>T)
c.2443G>T (p.Gly815Trp)
c.2365G>T (p.Gly789Trp)
c.*928G>T (n.*928G>T)
c.2404G>T (p.Gly802Trp)
c.2224G>T (p.Gly742Trp)
c.2698G>T (p.Gly900Trp)
c.2557G>T (p.Gly853Trp)
c.2518G>T (p.Gly840Trp)
c.2377G>T (p.Gly793Trp)
12g.109783692C>GCA386648435TRPV4c.2545G>C (p.Gly849Arg)
c.*1632G>C (n.*1632G>C)
c.2443G>C (p.Gly815Arg)
c.2365G>C (p.Gly789Arg)
c.*928G>C (n.*928G>C)
c.2404G>C (p.Gly802Arg)
c.2224G>C (p.Gly742Arg)
c.2698G>C (p.Gly900Arg)
c.2557G>C (p.Gly853Arg)
c.2518G>C (p.Gly840Arg)
c.2377G>C (p.Gly793Arg)
12g.109783692C>TCA386648436TRPV4c.2545G>A (p.Gly849Arg)
c.*1632G>A (n.*1632G>A)
c.2443G>A (p.Gly815Arg)
c.2365G>A (p.Gly789Arg)
c.*928G>A (n.*928G>A)
c.2404G>A (p.Gly802Arg)
c.2224G>A (p.Gly742Arg)
c.2698G>A (p.Gly900Arg)
c.2557G>A (p.Gly853Arg)
c.2518G>A (p.Gly840Arg)
c.2377G>A (p.Gly793Arg)
 gnomAD v4
12g.109783693C>ACA386648437TRPV4c.2544G>T (p.Met848Ile)
c.*1631G>T (n.*1631G>T)
c.2442G>T (p.Met814Ile)
c.2364G>T (p.Met788Ile)
c.*927G>T (n.*927G>T)
c.2403G>T (p.Met801Ile)
c.2223G>T (p.Met741Ile)
c.2697G>T (p.Met899Ile)
c.2556G>T (p.Met852Ile)
c.2517G>T (p.Met839Ile)
c.2376G>T (p.Met792Ile)
12g.109783693C>GCA386648438TRPV4c.2544G>C (p.Met848Ile)
c.*1631G>C (n.*1631G>C)
c.2442G>C (p.Met814Ile)
c.2364G>C (p.Met788Ile)
c.*927G>C (n.*927G>C)
c.2403G>C (p.Met801Ile)
c.2223G>C (p.Met741Ile)
c.2697G>C (p.Met899Ile)
c.2556G>C (p.Met852Ile)
c.2517G>C (p.Met839Ile)
c.2376G>C (p.Met792Ile)
12g.109783693C>TCA386648439TRPV4c.2544G>A (p.Met848Ile)
c.*1631G>A (n.*1631G>A)
c.2442G>A (p.Met814Ile)
c.2364G>A (p.Met788Ile)
c.*927G>A (n.*927G>A)
c.2403G>A (p.Met801Ile)
c.2223G>A (p.Met741Ile)
c.2697G>A (p.Met899Ile)
c.2556G>A (p.Met852Ile)
c.2517G>A (p.Met839Ile)
c.2376G>A (p.Met792Ile)
12g.109783694A>CCA386648442TRPV4c.2543T>G (p.Met848Arg)
c.*1630T>G (n.*1630T>G)
c.2441T>G (p.Met814Arg)
c.2363T>G (p.Met788Arg)
c.*926T>G (n.*926T>G)
c.2402T>G (p.Met801Arg)
c.2222T>G (p.Met741Arg)
c.2696T>G (p.Met899Arg)
c.2555T>G (p.Met852Arg)
c.2516T>G (p.Met839Arg)
c.2375T>G (p.Met792Arg)
 gnomAD v4
12g.109783694A>GCA386648440TRPV4c.2543T>C (p.Met848Thr)
c.*1630T>C (n.*1630T>C)
c.2441T>C (p.Met814Thr)
c.2363T>C (p.Met788Thr)
c.*926T>C (n.*926T>C)
c.2402T>C (p.Met801Thr)
c.2222T>C (p.Met741Thr)
c.2696T>C (p.Met899Thr)
c.2555T>C (p.Met852Thr)
c.2516T>C (p.Met839Thr)
c.2375T>C (p.Met792Thr)
 gnomAD v4
12g.109783694A>TCA386648441TRPV4c.2543T>A (p.Met848Lys)
c.*1630T>A (n.*1630T>A)
c.2441T>A (p.Met814Lys)
c.2363T>A (p.Met788Lys)
c.*926T>A (n.*926T>A)
c.2402T>A (p.Met801Lys)
c.2222T>A (p.Met741Lys)
c.2696T>A (p.Met899Lys)
c.2555T>A (p.Met852Lys)
c.2516T>A (p.Met839Lys)
c.2375T>A (p.Met792Lys)
12g.109783695T>ACA386648443TRPV4c.2542A>T (p.Met848Leu)
c.*1629A>T (n.*1629A>T)
c.2440A>T (p.Met814Leu)
c.2362A>T (p.Met788Leu)
c.*925A>T (n.*925A>T)
c.2401A>T (p.Met801Leu)
c.2221A>T (p.Met741Leu)
c.2695A>T (p.Met899Leu)
c.2554A>T (p.Met852Leu)
c.2515A>T (p.Met839Leu)
c.2374A>T (p.Met792Leu)
12g.109783695T>CCA386648444TRPV4c.2542A>G (p.Met848Val)
c.*1629A>G (n.*1629A>G)
c.2440A>G (p.Met814Val)
c.2362A>G (p.Met788Val)
c.*925A>G (n.*925A>G)
c.2401A>G (p.Met801Val)
c.2221A>G (p.Met741Val)
c.2695A>G (p.Met899Val)
c.2554A>G (p.Met852Val)
c.2515A>G (p.Met839Val)
c.2374A>G (p.Met792Val)
12g.109783695T>GCA386648445TRPV4c.2542A>C (p.Met848Leu)
c.*1629A>C (n.*1629A>C)
c.2440A>C (p.Met814Leu)
c.2362A>C (p.Met788Leu)
c.*925A>C (n.*925A>C)
c.2401A>C (p.Met801Leu)
c.2221A>C (p.Met741Leu)
c.2695A>C (p.Met899Leu)
c.2554A>C (p.Met852Leu)
c.2515A>C (p.Met839Leu)
c.2374A>C (p.Met792Leu)
12g.109783696G>ACA6779863TRPV4c.2541C>T (p.Ser847=)
c.*1628C>T (n.*1628C>T)
c.2439C>T (p.Ser813=)
c.2361C>T (p.Ser787=)
c.*924C>T (n.*924C>T)
c.2400C>T (p.Ser800=)
c.2220C>T (p.Ser740=)
c.2694C>T (p.Ser898=)
c.2553C>T (p.Ser851=)
c.2514C>T (p.Ser838=)
c.2373C>T (p.Ser791=)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.109783696G>CCA386648446TRPV4c.2541C>G (p.Ser847Arg)
c.*1628C>G (n.*1628C>G)
c.2439C>G (p.Ser813Arg)
c.2361C>G (p.Ser787Arg)
c.*924C>G (n.*924C>G)
c.2400C>G (p.Ser800Arg)
c.2220C>G (p.Ser740Arg)
c.2694C>G (p.Ser898Arg)
c.2553C>G (p.Ser851Arg)
c.2514C>G (p.Ser838Arg)
c.2373C>G (p.Ser791Arg)
12g.109783696G=CA2062557306TRPV4c.2541C= (p.Ser847=)
c.*1628C= (n.*1628C=)
c.2439C= (p.Ser813=)
c.2361C= (p.Ser787=)
c.*924C= (n.*924C=)
c.2400C= (p.Ser800=)
c.2220C= (p.Ser740=)
c.2694C= (p.Ser898=)
c.2553C= (p.Ser851=)
c.2514C= (p.Ser838=)
c.2373C= (p.Ser791=)
12g.109783696G>TCA386648447TRPV4c.2541C>A (p.Ser847Arg)
c.*1628C>A (n.*1628C>A)
c.2439C>A (p.Ser813Arg)
c.2361C>A (p.Ser787Arg)
c.*924C>A (n.*924C>A)
c.2400C>A (p.Ser800Arg)
c.2220C>A (p.Ser740Arg)
c.2694C>A (p.Ser898Arg)
c.2553C>A (p.Ser851Arg)
c.2514C>A (p.Ser838Arg)
c.2373C>A (p.Ser791Arg)
12g.109783697C>ACA243494073TRPV4c.2540G>T (p.Ser847Ile)
c.*1627G>T (n.*1627G>T)
c.2438G>T (p.Ser813Ile)
c.2360G>T (p.Ser787Ile)
c.*923G>T (n.*923G>T)
c.2399G>T (p.Ser800Ile)
c.2219G>T (p.Ser740Ile)
c.2693G>T (p.Ser898Ile)
c.2552G>T (p.Ser851Ile)
c.2513G>T (p.Ser838Ile)
c.2372G>T (p.Ser791Ile)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109783697C=CA2062557308TRPV4c.2540G= (p.Ser847=)
c.*1627G= (n.*1627G=)
c.2438G= (p.Ser813=)
c.2360G= (p.Ser787=)
c.*923G= (n.*923G=)
c.2399G= (p.Ser800=)
c.2219G= (p.Ser740=)
c.2693G= (p.Ser898=)
c.2552G= (p.Ser851=)
c.2513G= (p.Ser838=)
c.2372G= (p.Ser791=)
12g.109783697C>GCA386648449TRPV4c.2540G>C (p.Ser847Thr)
c.*1627G>C (n.*1627G>C)
c.2438G>C (p.Ser813Thr)
c.2360G>C (p.Ser787Thr)
c.*923G>C (n.*923G>C)
c.2399G>C (p.Ser800Thr)
c.2219G>C (p.Ser740Thr)
c.2693G>C (p.Ser898Thr)
c.2552G>C (p.Ser851Thr)
c.2513G>C (p.Ser838Thr)
c.2372G>C (p.Ser791Thr)
12g.109783697C>TCA386648448TRPV4c.2540G>A (p.Ser847Asn)
c.*1627G>A (n.*1627G>A)
c.2438G>A (p.Ser813Asn)
c.2360G>A (p.Ser787Asn)
c.*923G>A (n.*923G>A)
c.2399G>A (p.Ser800Asn)
c.2219G>A (p.Ser740Asn)
c.2693G>A (p.Ser898Asn)
c.2552G>A (p.Ser851Asn)
c.2513G>A (p.Ser838Asn)
c.2372G>A (p.Ser791Asn)
12g.109783698T>ACA386648451TRPV4c.2539A>T (p.Ser847Cys)
c.*1626A>T (n.*1626A>T)
c.2437A>T (p.Ser813Cys)
c.2359A>T (p.Ser787Cys)
c.*922A>T (n.*922A>T)
c.2398A>T (p.Ser800Cys)
c.2218A>T (p.Ser740Cys)
c.2692A>T (p.Ser898Cys)
c.2551A>T (p.Ser851Cys)
c.2512A>T (p.Ser838Cys)
c.2371A>T (p.Ser791Cys)
12g.109783698T>CCA386648452TRPV4c.2539A>G (p.Ser847Gly)
c.*1626A>G (n.*1626A>G)
c.2437A>G (p.Ser813Gly)
c.2359A>G (p.Ser787Gly)
c.*922A>G (n.*922A>G)
c.2398A>G (p.Ser800Gly)
c.2218A>G (p.Ser740Gly)
c.2692A>G (p.Ser898Gly)
c.2551A>G (p.Ser851Gly)
c.2512A>G (p.Ser838Gly)
c.2371A>G (p.Ser791Gly)
12g.109783698T>GCA386648453TRPV4c.2539A>C (p.Ser847Arg)
c.*1626A>C (n.*1626A>C)
c.2437A>C (p.Ser813Arg)
c.2359A>C (p.Ser787Arg)
c.*922A>C (n.*922A>C)
c.2398A>C (p.Ser800Arg)
c.2218A>C (p.Ser740Arg)
c.2692A>C (p.Ser898Arg)
c.2551A>C (p.Ser851Arg)
c.2512A>C (p.Ser838Arg)
c.2371A>C (p.Ser791Arg)
12g.109783699G>ACA6779864TRPV4c.2538C>T (p.Asp846=)
c.*1625C>T (n.*1625C>T)
c.2436C>T (p.Asp812=)
c.2358C>T (p.Asp786=)
c.*921C>T (n.*921C>T)
c.2397C>T (p.Asp799=)
c.2217C>T (p.Asp739=)
c.2691C>T (p.Asp897=)
c.2550C>T (p.Asp850=)
c.2511C>T (p.Asp837=)
c.2370C>T (p.Asp790=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.109783699G>CCA386648456TRPV4c.2538C>G (p.Asp846Glu)
c.*1625C>G (n.*1625C>G)
c.2436C>G (p.Asp812Glu)
c.2358C>G (p.Asp786Glu)
c.*921C>G (n.*921C>G)
c.2397C>G (p.Asp799Glu)
c.2217C>G (p.Asp739Glu)
c.2691C>G (p.Asp897Glu)
c.2550C>G (p.Asp850Glu)
c.2511C>G (p.Asp837Glu)
c.2370C>G (p.Asp790Glu)
 dbSNP
12g.109783699G=CA2062557311TRPV4c.2538C= (p.Asp846=)
c.*1625C= (n.*1625C=)
c.2436C= (p.Asp812=)
c.2358C= (p.Asp786=)
c.*921C= (n.*921C=)
c.2397C= (p.Asp799=)
c.2217C= (p.Asp739=)
c.2691C= (p.Asp897=)
c.2550C= (p.Asp850=)
c.2511C= (p.Asp837=)
c.2370C= (p.Asp790=)
12g.109783699G>TCA386648458TRPV4c.2538C>A (p.Asp846Glu)
c.*1625C>A (n.*1625C>A)
c.2436C>A (p.Asp812Glu)
c.2358C>A (p.Asp786Glu)
c.*921C>A (n.*921C>A)
c.2397C>A (p.Asp799Glu)
c.2217C>A (p.Asp739Glu)
c.2691C>A (p.Asp897Glu)
c.2550C>A (p.Asp850Glu)
c.2511C>A (p.Asp837Glu)
c.2370C>A (p.Asp790Glu)
12g.109783700T>ACA386648462TRPV4c.2537A>T (p.Asp846Val)
c.*1624A>T (n.*1624A>T)
c.2435A>T (p.Asp812Val)
c.2357A>T (p.Asp786Val)
c.*920A>T (n.*920A>T)
c.2396A>T (p.Asp799Val)
c.2216A>T (p.Asp739Val)
c.2690A>T (p.Asp897Val)
c.2549A>T (p.Asp850Val)
c.2510A>T (p.Asp837Val)
c.2369A>T (p.Asp790Val)
12g.109783700T>CCA386648469TRPV4c.2537A>G (p.Asp846Gly)
c.*1624A>G (n.*1624A>G)
c.2435A>G (p.Asp812Gly)
c.2357A>G (p.Asp786Gly)
c.*920A>G (n.*920A>G)
c.2396A>G (p.Asp799Gly)
c.2216A>G (p.Asp739Gly)
c.2690A>G (p.Asp897Gly)
c.2549A>G (p.Asp850Gly)
c.2510A>G (p.Asp837Gly)
c.2369A>G (p.Asp790Gly)
12g.109783700T>GCA386648463TRPV4c.2537A>C (p.Asp846Ala)
c.*1624A>C (n.*1624A>C)
c.2435A>C (p.Asp812Ala)
c.2357A>C (p.Asp786Ala)
c.*920A>C (n.*920A>C)
c.2396A>C (p.Asp799Ala)
c.2216A>C (p.Asp739Ala)
c.2690A>C (p.Asp897Ala)
c.2549A>C (p.Asp850Ala)
c.2510A>C (p.Asp837Ala)
c.2369A>C (p.Asp790Ala)
12g.109783700dupCA2620825363TRPV4c.2537dup (p.Asp846GlufsTer22)
c.*1624dup (n.*1624dup)
c.2435dup (p.Asp812GlufsTer22)
c.2357dup (p.Asp786GlufsTer22)
c.*920dup (n.*920dup)
c.2396dup (p.Asp799GlufsTer22)
c.2216dup (p.Asp739GlufsTer22)
c.2690dup (p.Asp897GlufsTer22)
c.2549dup (p.Asp850GlufsTer22)
c.2510dup (p.Asp837GlufsTer22)
c.2369dup (p.Asp790GlufsTer22)
 gnomAD v4
12g.109783701C>ACA386648472TRPV4c.2536G>T (p.Asp846Tyr)
c.*1623G>T (n.*1623G>T)
c.2434G>T (p.Asp812Tyr)
c.2356G>T (p.Asp786Tyr)
c.*919G>T (n.*919G>T)
c.2395G>T (p.Asp799Tyr)
c.2215G>T (p.Asp739Tyr)
c.2689G>T (p.Asp897Tyr)
c.2548G>T (p.Asp850Tyr)
c.2509G>T (p.Asp837Tyr)
c.2368G>T (p.Asp790Tyr)
12g.109783701C>GCA386648474TRPV4c.2536G>C (p.Asp846His)
c.*1623G>C (n.*1623G>C)
c.2434G>C (p.Asp812His)
c.2356G>C (p.Asp786His)
c.*919G>C (n.*919G>C)
c.2395G>C (p.Asp799His)
c.2215G>C (p.Asp739His)
c.2689G>C (p.Asp897His)
c.2548G>C (p.Asp850His)
c.2509G>C (p.Asp837His)
c.2368G>C (p.Asp790His)
12g.109783701C>TCA386648476TRPV4c.2536G>A (p.Asp846Asn)
c.*1623G>A (n.*1623G>A)
c.2434G>A (p.Asp812Asn)
c.2356G>A (p.Asp786Asn)
c.*919G>A (n.*919G>A)
c.2395G>A (p.Asp799Asn)
c.2215G>A (p.Asp739Asn)
c.2689G>A (p.Asp897Asn)
c.2548G>A (p.Asp850Asn)
c.2509G>A (p.Asp837Asn)
c.2368G>A (p.Asp790Asn)
12g.109783702C>ACA481723929TRPV4c.2535G>T (p.Leu845=)
c.*1622G>T (n.*1622G>T)
c.2433G>T (p.Leu811=)
c.2355G>T (p.Leu785=)
c.*918G>T (n.*918G>T)
c.2394G>T (p.Leu798=)
c.2214G>T (p.Leu738=)
c.2688G>T (p.Leu896=)
c.2547G>T (p.Leu849=)
c.2508G>T (p.Leu836=)
c.2367G>T (p.Leu789=)
12g.109783702C>GCA481723930TRPV4c.2535G>C (p.Leu845=)
c.*1622G>C (n.*1622G>C)
c.2433G>C (p.Leu811=)
c.2355G>C (p.Leu785=)
c.*918G>C (n.*918G>C)
c.2394G>C (p.Leu798=)
c.2214G>C (p.Leu738=)
c.2688G>C (p.Leu896=)
c.2547G>C (p.Leu849=)
c.2508G>C (p.Leu836=)
c.2367G>C (p.Leu789=)
12g.109783702C>TCA481723931TRPV4c.2535G>A (p.Leu845=)
c.*1622G>A (n.*1622G>A)
c.2433G>A (p.Leu811=)
c.2355G>A (p.Leu785=)
c.*918G>A (n.*918G>A)
c.2394G>A (p.Leu798=)
c.2214G>A (p.Leu738=)
c.2688G>A (p.Leu896=)
c.2547G>A (p.Leu849=)
c.2508G>A (p.Leu836=)
c.2367G>A (p.Leu789=)
12g.109783703A>CCA386648478TRPV4c.2534T>G (p.Leu845Arg)
c.*1621T>G (n.*1621T>G)
c.2432T>G (p.Leu811Arg)
c.2354T>G (p.Leu785Arg)
c.*917T>G (n.*917T>G)
c.2393T>G (p.Leu798Arg)
c.2213T>G (p.Leu738Arg)
c.2687T>G (p.Leu896Arg)
c.2546T>G (p.Leu849Arg)
c.2507T>G (p.Leu836Arg)
c.2366T>G (p.Leu789Arg)
12g.109783703A>GCA386648480TRPV4c.2534T>C (p.Leu845Pro)
c.*1621T>C (n.*1621T>C)
c.2432T>C (p.Leu811Pro)
c.2354T>C (p.Leu785Pro)
c.*917T>C (n.*917T>C)
c.2393T>C (p.Leu798Pro)
c.2213T>C (p.Leu738Pro)
c.2687T>C (p.Leu896Pro)
c.2546T>C (p.Leu849Pro)
c.2507T>C (p.Leu836Pro)
c.2366T>C (p.Leu789Pro)
12g.109783703A>TCA386648481TRPV4c.2534T>A (p.Leu845Gln)
c.*1621T>A (n.*1621T>A)
c.2432T>A (p.Leu811Gln)
c.2354T>A (p.Leu785Gln)
c.*917T>A (n.*917T>A)
c.2393T>A (p.Leu798Gln)
c.2213T>A (p.Leu738Gln)
c.2687T>A (p.Leu896Gln)
c.2546T>A (p.Leu849Gln)
c.2507T>A (p.Leu836Gln)
c.2366T>A (p.Leu789Gln)
12g.109783704G>ACA6779865TRPV4c.2533C>T (p.Leu845=)
c.*1620C>T (n.*1620C>T)
c.2431C>T (p.Leu811=)
c.2353C>T (p.Leu785=)
c.*916C>T (n.*916C>T)
c.2392C>T (p.Leu798=)
c.2212C>T (p.Leu738=)
c.2686C>T (p.Leu896=)
c.2545C>T (p.Leu849=)
c.2506C>T (p.Leu836=)
c.2365C>T (p.Leu789=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.109783704G>CCA386648485TRPV4c.2533C>G (p.Leu845Val)
c.*1620C>G (n.*1620C>G)
c.2431C>G (p.Leu811Val)
c.2353C>G (p.Leu785Val)
c.*916C>G (n.*916C>G)
c.2392C>G (p.Leu798Val)
c.2212C>G (p.Leu738Val)
c.2686C>G (p.Leu896Val)
c.2545C>G (p.Leu849Val)
c.2506C>G (p.Leu836Val)
c.2365C>G (p.Leu789Val)
12g.109783704G=CA2062557313TRPV4c.2533C= (p.Leu845=)
c.*1620C= (n.*1620C=)
c.2431C= (p.Leu811=)
c.2353C= (p.Leu785=)
c.*916C= (n.*916C=)
c.2392C= (p.Leu798=)
c.2212C= (p.Leu738=)
c.2686C= (p.Leu896=)
c.2545C= (p.Leu849=)
c.2506C= (p.Leu836=)
c.2365C= (p.Leu789=)
12g.109783704G>TCA386648487TRPV4c.2533C>A (p.Leu845Met)
c.*1620C>A (n.*1620C>A)
c.2431C>A (p.Leu811Met)
c.2353C>A (p.Leu785Met)
c.*916C>A (n.*916C>A)
c.2392C>A (p.Leu798Met)
c.2212C>A (p.Leu738Met)
c.2686C>A (p.Leu896Met)
c.2545C>A (p.Leu849Met)
c.2506C>A (p.Leu836Met)
c.2365C>A (p.Leu789Met)
12g.109783705_109783725delCA2580085760TRPV4c.2513_2533del (p.Pro838_Pro844del)
c.*1600_*1620del (n.*1600_*1620del)
c.2411_2431del (p.Pro804_Pro810del)
c.2333_2353del (p.Pro778_Pro784del)
c.*896_*916del (n.*896_*916del)
c.2372_2392del (p.Pro791_Pro797del)
c.2192_2212del (p.Pro731_Pro737del)
c.2666_2686del (p.Pro889_Pro895del)
c.2525_2545del (p.Pro842_Pro848del)
c.2486_2506del (p.Pro829_Pro835del)
c.2345_2365del (p.Pro782_Pro788del)
 ClinVar gnomAD v4
12g.109783705A>CCA481723932TRPV4c.2532T>G (p.Pro844=)
c.*1619T>G (n.*1619T>G)
c.2430T>G (p.Pro810=)
c.2352T>G (p.Pro784=)
c.*915T>G (n.*915T>G)
c.2391T>G (p.Pro797=)
c.2211T>G (p.Pro737=)
c.2685T>G (p.Pro895=)
c.2544T>G (p.Pro848=)
c.2505T>G (p.Pro835=)
c.2364T>G (p.Pro788=)
12g.109783705A>GCA481723933TRPV4c.2532T>C (p.Pro844=)
c.*1619T>C (n.*1619T>C)
c.2430T>C (p.Pro810=)
c.2352T>C (p.Pro784=)
c.*915T>C (n.*915T>C)
c.2391T>C (p.Pro797=)
c.2211T>C (p.Pro737=)
c.2685T>C (p.Pro895=)
c.2544T>C (p.Pro848=)
c.2505T>C (p.Pro835=)
c.2364T>C (p.Pro788=)
12g.109783705A>TCA481723934TRPV4c.2532T>A (p.Pro844=)
c.*1619T>A (n.*1619T>A)
c.2430T>A (p.Pro810=)
c.2352T>A (p.Pro784=)
c.*915T>A (n.*915T>A)
c.2391T>A (p.Pro797=)
c.2211T>A (p.Pro737=)
c.2685T>A (p.Pro895=)
c.2544T>A (p.Pro848=)
c.2505T>A (p.Pro835=)
c.2364T>A (p.Pro788=)
12g.109783706G>ACA386648488TRPV4c.2531C>T (p.Pro844Leu)
c.*1618C>T (n.*1618C>T)
c.2429C>T (p.Pro810Leu)
c.2351C>T (p.Pro784Leu)
c.*914C>T (n.*914C>T)
c.2390C>T (p.Pro797Leu)
c.2210C>T (p.Pro737Leu)
c.2684C>T (p.Pro895Leu)
c.2543C>T (p.Pro848Leu)
c.2504C>T (p.Pro835Leu)
c.2363C>T (p.Pro788Leu)
 gnomAD v4
12g.109783706G>CCA386648489TRPV4c.2531C>G (p.Pro844Arg)
c.*1618C>G (n.*1618C>G)
c.2429C>G (p.Pro810Arg)
c.2351C>G (p.Pro784Arg)
c.*914C>G (n.*914C>G)
c.2390C>G (p.Pro797Arg)
c.2210C>G (p.Pro737Arg)
c.2684C>G (p.Pro895Arg)
c.2543C>G (p.Pro848Arg)
c.2504C>G (p.Pro835Arg)
c.2363C>G (p.Pro788Arg)
12g.109783706G>TCA386648491TRPV4c.2531C>A (p.Pro844His)
c.*1618C>A (n.*1618C>A)
c.2429C>A (p.Pro810His)
c.2351C>A (p.Pro784His)
c.*914C>A (n.*914C>A)
c.2390C>A (p.Pro797His)
c.2210C>A (p.Pro737His)
c.2684C>A (p.Pro895His)
c.2543C>A (p.Pro848His)
c.2504C>A (p.Pro835His)
c.2363C>A (p.Pro788His)
12g.109783707G>ACA386648493TRPV4c.2530C>T (p.Pro844Ser)
c.*1617C>T (n.*1617C>T)
c.2428C>T (p.Pro810Ser)
c.2350C>T (p.Pro784Ser)
c.*913C>T (n.*913C>T)
c.2389C>T (p.Pro797Ser)
c.2209C>T (p.Pro737Ser)
c.2683C>T (p.Pro895Ser)
c.2542C>T (p.Pro848Ser)
c.2503C>T (p.Pro835Ser)
c.2362C>T (p.Pro788Ser)
12g.109783707G>CCA386648496TRPV4c.2530C>G (p.Pro844Ala)
c.*1617C>G (n.*1617C>G)
c.2428C>G (p.Pro810Ala)
c.2350C>G (p.Pro784Ala)
c.*913C>G (n.*913C>G)
c.2389C>G (p.Pro797Ala)
c.2209C>G (p.Pro737Ala)
c.2683C>G (p.Pro895Ala)
c.2542C>G (p.Pro848Ala)
c.2503C>G (p.Pro835Ala)
c.2362C>G (p.Pro788Ala)
12g.109783707G>TCA386648495TRPV4c.2530C>A (p.Pro844Thr)
c.*1617C>A (n.*1617C>A)
c.2428C>A (p.Pro810Thr)
c.2350C>A (p.Pro784Thr)
c.*913C>A (n.*913C>A)
c.2389C>A (p.Pro797Thr)
c.2209C>A (p.Pro737Thr)
c.2683C>A (p.Pro895Thr)
c.2542C>A (p.Pro848Thr)
c.2503C>A (p.Pro835Thr)
c.2362C>A (p.Pro788Thr)
 ClinVar dbSNP
12g.109783708C>ACA481723936TRPV4c.2529G>T (p.Val843=)
c.*1616G>T (n.*1616G>T)
c.2427G>T (p.Val809=)
c.2349G>T (p.Val783=)
c.*912G>T (n.*912G>T)
c.2388G>T (p.Val796=)
c.2208G>T (p.Val736=)
c.2682G>T (p.Val894=)
c.2541G>T (p.Val847=)
c.2502G>T (p.Val834=)
c.2361G>T (p.Val787=)
12g.109783708C>GCA481723937TRPV4c.2529G>C (p.Val843=)
c.*1616G>C (n.*1616G>C)
c.2427G>C (p.Val809=)
c.2349G>C (p.Val783=)
c.*912G>C (n.*912G>C)
c.2388G>C (p.Val796=)
c.2208G>C (p.Val736=)
c.2682G>C (p.Val894=)
c.2541G>C (p.Val847=)
c.2502G>C (p.Val834=)
c.2361G>C (p.Val787=)
12g.109783708C>TCA481723935TRPV4c.2529G>A (p.Val843=)
c.*1616G>A (n.*1616G>A)
c.2427G>A (p.Val809=)
c.2349G>A (p.Val783=)
c.*912G>A (n.*912G>A)
c.2388G>A (p.Val796=)
c.2208G>A (p.Val736=)
c.2682G>A (p.Val894=)
c.2541G>A (p.Val847=)
c.2502G>A (p.Val834=)
c.2361G>A (p.Val787=)
12g.109783709A>CCA386648498TRPV4c.2528T>G (p.Val843Gly)
c.*1615T>G (n.*1615T>G)
c.2426T>G (p.Val809Gly)
c.2348T>G (p.Val783Gly)
c.*911T>G (n.*911T>G)
c.2387T>G (p.Val796Gly)
c.2207T>G (p.Val736Gly)
c.2681T>G (p.Val894Gly)
c.2540T>G (p.Val847Gly)
c.2501T>G (p.Val834Gly)
c.2360T>G (p.Val787Gly)
12g.109783709A>GCA386648500TRPV4c.2528T>C (p.Val843Ala)
c.*1615T>C (n.*1615T>C)
c.2426T>C (p.Val809Ala)
c.2348T>C (p.Val783Ala)
c.*911T>C (n.*911T>C)
c.2387T>C (p.Val796Ala)
c.2207T>C (p.Val736Ala)
c.2681T>C (p.Val894Ala)
c.2540T>C (p.Val847Ala)
c.2501T>C (p.Val834Ala)
c.2360T>C (p.Val787Ala)
12g.109783709A>TCA386648502TRPV4c.2528T>A (p.Val843Glu)
c.*1615T>A (n.*1615T>A)
c.2426T>A (p.Val809Glu)
c.2348T>A (p.Val783Glu)
c.*911T>A (n.*911T>A)
c.2387T>A (p.Val796Glu)
c.2207T>A (p.Val736Glu)
c.2681T>A (p.Val894Glu)
c.2540T>A (p.Val847Glu)
c.2501T>A (p.Val834Glu)
c.2360T>A (p.Val787Glu)
12g.109783710C>ACA386648503TRPV4c.2527G>T (p.Val843Leu)
c.*1614G>T (n.*1614G>T)
c.2425G>T (p.Val809Leu)
c.2347G>T (p.Val783Leu)
c.*910G>T (n.*910G>T)
c.2386G>T (p.Val796Leu)
c.2206G>T (p.Val736Leu)
c.2680G>T (p.Val894Leu)
c.2539G>T (p.Val847Leu)
c.2500G>T (p.Val834Leu)
c.2359G>T (p.Val787Leu)
12g.109783710C>GCA386648505TRPV4c.2527G>C (p.Val843Leu)
c.*1614G>C (n.*1614G>C)
c.2425G>C (p.Val809Leu)
c.2347G>C (p.Val783Leu)
c.*910G>C (n.*910G>C)
c.2386G>C (p.Val796Leu)
c.2206G>C (p.Val736Leu)
c.2680G>C (p.Val894Leu)
c.2539G>C (p.Val847Leu)
c.2500G>C (p.Val834Leu)
c.2359G>C (p.Val787Leu)
12g.109783710C>TCA386648507TRPV4c.2527G>A (p.Val843Met)
c.*1614G>A (n.*1614G>A)
c.2425G>A (p.Val809Met)
c.2347G>A (p.Val783Met)
c.*910G>A (n.*910G>A)
c.2386G>A (p.Val796Met)
c.2206G>A (p.Val736Met)
c.2680G>A (p.Val894Met)
c.2539G>A (p.Val847Met)
c.2500G>A (p.Val834Met)
c.2359G>A (p.Val787Met)
 gnomAD v4
12g.109783711C>ACA481723940TRPV4c.2526G>T (p.Val842=)
c.*1613G>T (n.*1613G>T)
c.2424G>T (p.Val808=)
c.2346G>T (p.Val782=)
c.*909G>T (n.*909G>T)
c.2385G>T (p.Val795=)
c.2205G>T (p.Val735=)
c.2679G>T (p.Val893=)
c.2538G>T (p.Val846=)
c.2499G>T (p.Val833=)
c.2358G>T (p.Val786=)
 gnomAD v4
12g.109783711C=CA2062557315TRPV4c.2526G= (p.Val842=)
c.*1613G= (n.*1613G=)
c.2424G= (p.Val808=)
c.2346G= (p.Val782=)
c.*909G= (n.*909G=)
c.2385G= (p.Val795=)
c.2205G= (p.Val735=)
c.2679G= (p.Val893=)
c.2538G= (p.Val846=)
c.2499G= (p.Val833=)
c.2358G= (p.Val786=)
12g.109783711C>GCA481723939TRPV4c.2526G>C (p.Val842=)
c.*1613G>C (n.*1613G>C)
c.2424G>C (p.Val808=)
c.2346G>C (p.Val782=)
c.*909G>C (n.*909G>C)
c.2385G>C (p.Val795=)
c.2205G>C (p.Val735=)
c.2679G>C (p.Val893=)
c.2538G>C (p.Val846=)
c.2499G>C (p.Val833=)
c.2358G>C (p.Val786=)
12g.109783711C>TCA481723938TRPV4c.2526G>A (p.Val842=)
c.*1613G>A (n.*1613G>A)
c.2424G>A (p.Val808=)
c.2346G>A (p.Val782=)
c.*909G>A (n.*909G>A)
c.2385G>A (p.Val795=)
c.2205G>A (p.Val735=)
c.2679G>A (p.Val893=)
c.2538G>A (p.Val846=)
c.2499G>A (p.Val833=)
c.2358G>A (p.Val786=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.109783712A>CCA386648510TRPV4c.2525T>G (p.Val842Gly)
c.*1612T>G (n.*1612T>G)
c.2423T>G (p.Val808Gly)
c.2345T>G (p.Val782Gly)
c.*908T>G (n.*908T>G)
c.2384T>G (p.Val795Gly)
c.2204T>G (p.Val735Gly)
c.2678T>G (p.Val893Gly)
c.2537T>G (p.Val846Gly)
c.2498T>G (p.Val833Gly)
c.2357T>G (p.Val786Gly)
12g.109783712A>GCA386648512TRPV4c.2525T>C (p.Val842Ala)
c.*1612T>C (n.*1612T>C)
c.2423T>C (p.Val808Ala)
c.2345T>C (p.Val782Ala)
c.*908T>C (n.*908T>C)
c.2384T>C (p.Val795Ala)
c.2204T>C (p.Val735Ala)
c.2678T>C (p.Val893Ala)
c.2537T>C (p.Val846Ala)
c.2498T>C (p.Val833Ala)
c.2357T>C (p.Val786Ala)
12g.109783712A>TCA386648514TRPV4c.2525T>A (p.Val842Glu)
c.*1612T>A (n.*1612T>A)
c.2423T>A (p.Val808Glu)
c.2345T>A (p.Val782Glu)
c.*908T>A (n.*908T>A)
c.2384T>A (p.Val795Glu)
c.2204T>A (p.Val735Glu)
c.2678T>A (p.Val893Glu)
c.2537T>A (p.Val846Glu)
c.2498T>A (p.Val833Glu)
c.2357T>A (p.Val786Glu)
12g.109783713C>ACA386648517TRPV4c.2524G>T (p.Val842Leu)
c.*1611G>T (n.*1611G>T)
c.2422G>T (p.Val808Leu)
c.2344G>T (p.Val782Leu)
c.*907G>T (n.*907G>T)
c.2383G>T (p.Val795Leu)
c.2203G>T (p.Val735Leu)
c.2677G>T (p.Val893Leu)
c.2536G>T (p.Val846Leu)
c.2497G>T (p.Val833Leu)
c.2356G>T (p.Val786Leu)
 dbSNP gnomAD v3 gnomAD v4
12g.109783713C=CA2062557320TRPV4c.2524G= (p.Val842=)
c.*1611G= (n.*1611G=)
c.2422G= (p.Val808=)
c.2344G= (p.Val782=)
c.*907G= (n.*907G=)
c.2383G= (p.Val795=)
c.2203G= (p.Val735=)
c.2677G= (p.Val893=)
c.2536G= (p.Val846=)
c.2497G= (p.Val833=)
c.2356G= (p.Val786=)
12g.109783713C>GCA386648518TRPV4c.2524G>C (p.Val842Leu)
c.*1611G>C (n.*1611G>C)
c.2422G>C (p.Val808Leu)
c.2344G>C (p.Val782Leu)
c.*907G>C (n.*907G>C)
c.2383G>C (p.Val795Leu)
c.2203G>C (p.Val735Leu)
c.2677G>C (p.Val893Leu)
c.2536G>C (p.Val846Leu)
c.2497G>C (p.Val833Leu)
c.2356G>C (p.Val786Leu)
12g.109783713C>TCA386648521TRPV4c.2524G>A (p.Val842Met)
c.*1611G>A (n.*1611G>A)
c.2422G>A (p.Val808Met)
c.2344G>A (p.Val782Met)
c.*907G>A (n.*907G>A)
c.2383G>A (p.Val795Met)
c.2203G>A (p.Val735Met)
c.2677G>A (p.Val893Met)
c.2536G>A (p.Val846Met)
c.2497G>A (p.Val833Met)
c.2356G>A (p.Val786Met)
 ClinVar dbSNP
12g.109783714C>ACA481723941TRPV4c.2523G>T (p.Val841=)
c.*1610G>T (n.*1610G>T)
c.2421G>T (p.Val807=)
c.2343G>T (p.Val781=)
c.*906G>T (n.*906G>T)
c.2382G>T (p.Val794=)
c.2202G>T (p.Val734=)
c.2676G>T (p.Val892=)
c.2535G>T (p.Val845=)
c.2496G>T (p.Val832=)
c.2355G>T (p.Val785=)
12g.109783714C=CA2062557322TRPV4c.2523G= (p.Val841=)
c.*1610G= (n.*1610G=)
c.2421G= (p.Val807=)
c.2343G= (p.Val781=)
c.*906G= (n.*906G=)
c.2382G= (p.Val794=)
c.2202G= (p.Val734=)
c.2676G= (p.Val892=)
c.2535G= (p.Val845=)
c.2496G= (p.Val832=)
c.2355G= (p.Val785=)
12g.109783714C>GCA481723942TRPV4c.2523G>C (p.Val841=)
c.*1610G>C (n.*1610G>C)
c.2421G>C (p.Val807=)
c.2343G>C (p.Val781=)
c.*906G>C (n.*906G>C)
c.2382G>C (p.Val794=)
c.2202G>C (p.Val734=)
c.2676G>C (p.Val892=)
c.2535G>C (p.Val845=)
c.2496G>C (p.Val832=)
c.2355G>C (p.Val785=)
12g.109783714C>TCA6779866TRPV4c.2523G>A (p.Val841=)
c.*1610G>A (n.*1610G>A)
c.2421G>A (p.Val807=)
c.2343G>A (p.Val781=)
c.*906G>A (n.*906G>A)
c.2382G>A (p.Val794=)
c.2202G>A (p.Val734=)
c.2676G>A (p.Val892=)
c.2535G>A (p.Val845=)
c.2496G>A (p.Val832=)
c.2355G>A (p.Val785=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783715A=CA2062557325TRPV4c.2522T= (p.Val841=)
c.*1609T= (n.*1609T=)
c.2420T= (p.Val807=)
c.2342T= (p.Val781=)
c.*905T= (n.*905T=)
c.2381T= (p.Val794=)
c.2201T= (p.Val734=)
c.2675T= (p.Val892=)
c.2534T= (p.Val845=)
c.2495T= (p.Val832=)
c.2354T= (p.Val785=)
12g.109783715A>CCA6779867TRPV4c.2522T>G (p.Val841Gly)
c.*1609T>G (n.*1609T>G)
c.2420T>G (p.Val807Gly)
c.2342T>G (p.Val781Gly)
c.*905T>G (n.*905T>G)
c.2381T>G (p.Val794Gly)
c.2201T>G (p.Val734Gly)
c.2675T>G (p.Val892Gly)
c.2534T>G (p.Val845Gly)
c.2495T>G (p.Val832Gly)
c.2354T>G (p.Val785Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.109783715A>GCA386648527TRPV4c.2522T>C (p.Val841Ala)
c.*1609T>C (n.*1609T>C)
c.2420T>C (p.Val807Ala)
c.2342T>C (p.Val781Ala)
c.*905T>C (n.*905T>C)
c.2381T>C (p.Val794Ala)
c.2201T>C (p.Val734Ala)
c.2675T>C (p.Val892Ala)
c.2534T>C (p.Val845Ala)
c.2495T>C (p.Val832Ala)
c.2354T>C (p.Val785Ala)
12g.109783715A>TCA386648525TRPV4c.2522T>A (p.Val841Glu)
c.*1609T>A (n.*1609T>A)
c.2420T>A (p.Val807Glu)
c.2342T>A (p.Val781Glu)
c.*905T>A (n.*905T>A)
c.2381T>A (p.Val794Glu)
c.2201T>A (p.Val734Glu)
c.2675T>A (p.Val892Glu)
c.2534T>A (p.Val845Glu)
c.2495T>A (p.Val832Glu)
c.2354T>A (p.Val785Glu)
12g.109783716C>ACA386648531TRPV4c.2521G>T (p.Val841Leu)
c.*1608G>T (n.*1608G>T)
c.2419G>T (p.Val807Leu)
c.2341G>T (p.Val781Leu)
c.*904G>T (n.*904G>T)
c.2380G>T (p.Val794Leu)
c.2200G>T (p.Val734Leu)
c.2674G>T (p.Val892Leu)
c.2533G>T (p.Val845Leu)
c.2494G>T (p.Val832Leu)
c.2353G>T (p.Val785Leu)
12g.109783716C=CA2062557329TRPV4c.2521G= (p.Val841=)
c.*1608G= (n.*1608G=)
c.2419G= (p.Val807=)
c.2341G= (p.Val781=)
c.*904G= (n.*904G=)
c.2380G= (p.Val794=)
c.2200G= (p.Val734=)
c.2674G= (p.Val892=)
c.2533G= (p.Val845=)
c.2494G= (p.Val832=)
c.2353G= (p.Val785=)
12g.109783716C>GCA386648532TRPV4c.2521G>C (p.Val841Leu)
c.*1608G>C (n.*1608G>C)
c.2419G>C (p.Val807Leu)
c.2341G>C (p.Val781Leu)
c.*904G>C (n.*904G>C)
c.2380G>C (p.Val794Leu)
c.2200G>C (p.Val734Leu)
c.2674G>C (p.Val892Leu)
c.2533G>C (p.Val845Leu)
c.2494G>C (p.Val832Leu)
c.2353G>C (p.Val785Leu)
12g.109783716C>TCA386648533TRPV4c.2521G>A (p.Val841Met)
c.*1608G>A (n.*1608G>A)
c.2419G>A (p.Val807Met)
c.2341G>A (p.Val781Met)
c.*904G>A (n.*904G>A)
c.2380G>A (p.Val794Met)
c.2200G>A (p.Val734Met)
c.2674G>A (p.Val892Met)
c.2533G>A (p.Val845Met)
c.2494G>A (p.Val832Met)
c.2353G>A (p.Val785Met)
 ClinVar dbSNP gnomAD v4
12g.109783717C>ACA386648535TRPV4c.2520G>T (p.Glu840Asp)
c.*1607G>T (n.*1607G>T)
c.2418G>T (p.Glu806Asp)
c.2340G>T (p.Glu780Asp)
c.*903G>T (n.*903G>T)
c.2379G>T (p.Glu793Asp)
c.2199G>T (p.Glu733Asp)
c.2673G>T (p.Glu891Asp)
c.2532G>T (p.Glu844Asp)
c.2493G>T (p.Glu831Asp)
c.2352G>T (p.Glu784Asp)
12g.109783717C>GCA386648537TRPV4c.2520G>C (p.Glu840Asp)
c.*1607G>C (n.*1607G>C)
c.2418G>C (p.Glu806Asp)
c.2340G>C (p.Glu780Asp)
c.*903G>C (n.*903G>C)
c.2379G>C (p.Glu793Asp)
c.2199G>C (p.Glu733Asp)
c.2673G>C (p.Glu891Asp)
c.2532G>C (p.Glu844Asp)
c.2493G>C (p.Glu831Asp)
c.2352G>C (p.Glu784Asp)
12g.109783717C>TCA481723943TRPV4c.2520G>A (p.Glu840=)
c.*1607G>A (n.*1607G>A)
c.2418G>A (p.Glu806=)
c.2340G>A (p.Glu780=)
c.*903G>A (n.*903G>A)
c.2379G>A (p.Glu793=)
c.2199G>A (p.Glu733=)
c.2673G>A (p.Glu891=)
c.2532G>A (p.Glu844=)
c.2493G>A (p.Glu831=)
c.2352G>A (p.Glu784=)
12g.109783718T>ACA386648539TRPV4c.2519A>T (p.Glu840Val)
c.*1606A>T (n.*1606A>T)
c.2417A>T (p.Glu806Val)
c.2339A>T (p.Glu780Val)
c.*902A>T (n.*902A>T)
c.2378A>T (p.Glu793Val)
c.2198A>T (p.Glu733Val)
c.2672A>T (p.Glu891Val)
c.2531A>T (p.Glu844Val)
c.2492A>T (p.Glu831Val)
c.2351A>T (p.Glu784Val)
12g.109783718T>CCA386648541TRPV4c.2519A>G (p.Glu840Gly)
c.*1606A>G (n.*1606A>G)
c.2417A>G (p.Glu806Gly)
c.2339A>G (p.Glu780Gly)
c.*902A>G (n.*902A>G)
c.2378A>G (p.Glu793Gly)
c.2198A>G (p.Glu733Gly)
c.2672A>G (p.Glu891Gly)
c.2531A>G (p.Glu844Gly)
c.2492A>G (p.Glu831Gly)
c.2351A>G (p.Glu784Gly)
12g.109783718T>GCA386648543TRPV4c.2519A>C (p.Glu840Ala)
c.*1606A>C (n.*1606A>C)
c.2417A>C (p.Glu806Ala)
c.2339A>C (p.Glu780Ala)
c.*902A>C (n.*902A>C)
c.2378A>C (p.Glu793Ala)
c.2198A>C (p.Glu733Ala)
c.2672A>C (p.Glu891Ala)
c.2531A>C (p.Glu844Ala)
c.2492A>C (p.Glu831Ala)
c.2351A>C (p.Glu784Ala)
12g.109783719C>ACA386648545TRPV4c.2518G>T (p.Glu840Ter)
c.*1605G>T (n.*1605G>T)
c.2416G>T (p.Glu806Ter)
c.2338G>T (p.Glu780Ter)
c.*901G>T (n.*901G>T)
c.2377G>T (p.Glu793Ter)
c.2197G>T (p.Glu733Ter)
c.2671G>T (p.Glu891Ter)
c.2530G>T (p.Glu844Ter)
c.2491G>T (p.Glu831Ter)
c.2350G>T (p.Glu784Ter)
12g.109783719C=CA2062557336TRPV4c.2518G= (p.Glu840=)
c.*1605G= (n.*1605G=)
c.2416G= (p.Glu806=)
c.2338G= (p.Glu780=)
c.*901G= (n.*901G=)
c.2377G= (p.Glu793=)
c.2197G= (p.Glu733=)
c.2671G= (p.Glu891=)
c.2530G= (p.Glu844=)
c.2491G= (p.Glu831=)
c.2350G= (p.Glu784=)
12g.109783719C>GCA386648546TRPV4c.2518G>C (p.Glu840Gln)
c.*1605G>C (n.*1605G>C)
c.2416G>C (p.Glu806Gln)
c.2338G>C (p.Glu780Gln)
c.*901G>C (n.*901G>C)
c.2377G>C (p.Glu793Gln)
c.2197G>C (p.Glu733Gln)
c.2671G>C (p.Glu891Gln)
c.2530G>C (p.Glu844Gln)
c.2491G>C (p.Glu831Gln)
c.2350G>C (p.Glu784Gln)
12g.109783719C>TCA291402TRPV4c.2518G>A (p.Glu840Lys)
c.*1605G>A (n.*1605G>A)
c.2416G>A (p.Glu806Lys)
c.2338G>A (p.Glu780Lys)
c.*901G>A (n.*901G>A)
c.2377G>A (p.Glu793Lys)
c.2197G>A (p.Glu733Lys)
c.2671G>A (p.Glu891Lys)
c.2530G>A (p.Glu844Lys)
c.2491G>A (p.Glu831Lys)
c.2350G>A (p.Glu784Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783720G>ACA6779868TRPV4c.2517C>T (p.Asp839=)
c.*1604C>T (n.*1604C>T)
c.2415C>T (p.Asp805=)
c.2337C>T (p.Asp779=)
c.*900C>T (n.*900C>T)
c.2376C>T (p.Asp792=)
c.2196C>T (p.Asp732=)
c.2670C>T (p.Asp890=)
c.2529C>T (p.Asp843=)
c.2490C>T (p.Asp830=)
c.2349C>T (p.Asp783=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783720G>CCA386648547TRPV4c.2517C>G (p.Asp839Glu)
c.*1604C>G (n.*1604C>G)
c.2415C>G (p.Asp805Glu)
c.2337C>G (p.Asp779Glu)
c.*900C>G (n.*900C>G)
c.2376C>G (p.Asp792Glu)
c.2196C>G (p.Asp732Glu)
c.2670C>G (p.Asp890Glu)
c.2529C>G (p.Asp843Glu)
c.2490C>G (p.Asp830Glu)
c.2349C>G (p.Asp783Glu)
12g.109783720G=CA2062557343TRPV4c.2517C= (p.Asp839=)
c.*1604C= (n.*1604C=)
c.2415C= (p.Asp805=)
c.2337C= (p.Asp779=)
c.*900C= (n.*900C=)
c.2376C= (p.Asp792=)
c.2196C= (p.Asp732=)
c.2670C= (p.Asp890=)
c.2529C= (p.Asp843=)
c.2490C= (p.Asp830=)
c.2349C= (p.Asp783=)
12g.109783720G>TCA386648548TRPV4c.2517C>A (p.Asp839Glu)
c.*1604C>A (n.*1604C>A)
c.2415C>A (p.Asp805Glu)
c.2337C>A (p.Asp779Glu)
c.*900C>A (n.*900C>A)
c.2376C>A (p.Asp792Glu)
c.2196C>A (p.Asp732Glu)
c.2670C>A (p.Asp890Glu)
c.2529C>A (p.Asp843Glu)
c.2490C>A (p.Asp830Glu)
c.2349C>A (p.Asp783Glu)
12g.109783721T>ACA386648550TRPV4c.2516A>T (p.Asp839Val)
c.*1603A>T (n.*1603A>T)
c.2414A>T (p.Asp805Val)
c.2336A>T (p.Asp779Val)
c.*899A>T (n.*899A>T)
c.2375A>T (p.Asp792Val)
c.2195A>T (p.Asp732Val)
c.2669A>T (p.Asp890Val)
c.2528A>T (p.Asp843Val)
c.2489A>T (p.Asp830Val)
c.2348A>T (p.Asp783Val)
12g.109783721T>CCA386648551TRPV4c.2516A>G (p.Asp839Gly)
c.*1603A>G (n.*1603A>G)
c.2414A>G (p.Asp805Gly)
c.2336A>G (p.Asp779Gly)
c.*899A>G (n.*899A>G)
c.2375A>G (p.Asp792Gly)
c.2195A>G (p.Asp732Gly)
c.2669A>G (p.Asp890Gly)
c.2528A>G (p.Asp843Gly)
c.2489A>G (p.Asp830Gly)
c.2348A>G (p.Asp783Gly)
12g.109783721T>GCA386648549TRPV4c.2516A>C (p.Asp839Ala)
c.*1603A>C (n.*1603A>C)
c.2414A>C (p.Asp805Ala)
c.2336A>C (p.Asp779Ala)
c.*899A>C (n.*899A>C)
c.2375A>C (p.Asp792Ala)
c.2195A>C (p.Asp732Ala)
c.2669A>C (p.Asp890Ala)
c.2528A>C (p.Asp843Ala)
c.2489A>C (p.Asp830Ala)
c.2348A>C (p.Asp783Ala)
12g.109783722C>ACA386648552TRPV4c.2515G>T (p.Asp839Tyr)
c.*1602G>T (n.*1602G>T)
c.2413G>T (p.Asp805Tyr)
c.2335G>T (p.Asp779Tyr)
c.*898G>T (n.*898G>T)
c.2374G>T (p.Asp792Tyr)
c.2194G>T (p.Asp732Tyr)
c.2668G>T (p.Asp890Tyr)
c.2527G>T (p.Asp843Tyr)
c.2488G>T (p.Asp830Tyr)
c.2347G>T (p.Asp783Tyr)
12g.109783722C>GCA386648553TRPV4c.2515G>C (p.Asp839His)
c.*1602G>C (n.*1602G>C)
c.2413G>C (p.Asp805His)
c.2335G>C (p.Asp779His)
c.*898G>C (n.*898G>C)
c.2374G>C (p.Asp792His)
c.2194G>C (p.Asp732His)
c.2668G>C (p.Asp890His)
c.2527G>C (p.Asp843His)
c.2488G>C (p.Asp830His)
c.2347G>C (p.Asp783His)
12g.109783722C>TCA386648554TRPV4c.2515G>A (p.Asp839Asn)
c.*1602G>A (n.*1602G>A)
c.2413G>A (p.Asp805Asn)
c.2335G>A (p.Asp779Asn)
c.*898G>A (n.*898G>A)
c.2374G>A (p.Asp792Asn)
c.2194G>A (p.Asp732Asn)
c.2668G>A (p.Asp890Asn)
c.2527G>A (p.Asp843Asn)
c.2488G>A (p.Asp830Asn)
c.2347G>A (p.Asp783Asn)
12g.109783723C>ACA481723944TRPV4c.2514G>T (p.Pro838=)
c.*1601G>T (n.*1601G>T)
c.2412G>T (p.Pro804=)
c.2334G>T (p.Pro778=)
c.*897G>T (n.*897G>T)
c.2373G>T (p.Pro791=)
c.2193G>T (p.Pro731=)
c.2667G>T (p.Pro889=)
c.2526G>T (p.Pro842=)
c.2487G>T (p.Pro829=)
c.2346G>T (p.Pro782=)
 gnomAD v4
12g.109783723C=CA2062557349TRPV4c.2514G= (p.Pro838=)
c.*1601G= (n.*1601G=)
c.2412G= (p.Pro804=)
c.2334G= (p.Pro778=)
c.*897G= (n.*897G=)
c.2373G= (p.Pro791=)
c.2193G= (p.Pro731=)
c.2667G= (p.Pro889=)
c.2526G= (p.Pro842=)
c.2487G= (p.Pro829=)
c.2346G= (p.Pro782=)
12g.109783723C>GCA481723945TRPV4c.2514G>C (p.Pro838=)
c.*1601G>C (n.*1601G>C)
c.2412G>C (p.Pro804=)
c.2334G>C (p.Pro778=)
c.*897G>C (n.*897G>C)
c.2373G>C (p.Pro791=)
c.2193G>C (p.Pro731=)
c.2667G>C (p.Pro889=)
c.2526G>C (p.Pro842=)
c.2487G>C (p.Pro829=)
c.2346G>C (p.Pro782=)
12g.109783723C>TCA6779869TRPV4c.2514G>A (p.Pro838=)
c.*1601G>A (n.*1601G>A)
c.2412G>A (p.Pro804=)
c.2334G>A (p.Pro778=)
c.*897G>A (n.*897G>A)
c.2373G>A (p.Pro791=)
c.2193G>A (p.Pro731=)
c.2667G>A (p.Pro889=)
c.2526G>A (p.Pro842=)
c.2487G>A (p.Pro829=)
c.2346G>A (p.Pro782=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783724G>ACA6779870TRPV4c.2513C>T (p.Pro838Leu)
c.*1600C>T (n.*1600C>T)
c.2411C>T (p.Pro804Leu)
c.2333C>T (p.Pro778Leu)
c.*896C>T (n.*896C>T)
c.2372C>T (p.Pro791Leu)
c.2192C>T (p.Pro731Leu)
c.2666C>T (p.Pro889Leu)
c.2525C>T (p.Pro842Leu)
c.2486C>T (p.Pro829Leu)
c.2345C>T (p.Pro782Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783724G>CCA386648555TRPV4c.2513C>G (p.Pro838Arg)
c.*1600C>G (n.*1600C>G)
c.2411C>G (p.Pro804Arg)
c.2333C>G (p.Pro778Arg)
c.*896C>G (n.*896C>G)
c.2372C>G (p.Pro791Arg)
c.2192C>G (p.Pro731Arg)
c.2666C>G (p.Pro889Arg)
c.2525C>G (p.Pro842Arg)
c.2486C>G (p.Pro829Arg)
c.2345C>G (p.Pro782Arg)
12g.109783724G=CA2062557353TRPV4c.2513C= (p.Pro838=)
c.*1600C= (n.*1600C=)
c.2411C= (p.Pro804=)
c.2333C= (p.Pro778=)
c.*896C= (n.*896C=)
c.2372C= (p.Pro791=)
c.2192C= (p.Pro731=)
c.2666C= (p.Pro889=)
c.2525C= (p.Pro842=)
c.2486C= (p.Pro829=)
c.2345C= (p.Pro782=)
12g.109783724G>TCA386648556TRPV4c.2513C>A (p.Pro838Gln)
c.*1600C>A (n.*1600C>A)
c.2411C>A (p.Pro804Gln)
c.2333C>A (p.Pro778Gln)
c.*896C>A (n.*896C>A)
c.2372C>A (p.Pro791Gln)
c.2192C>A (p.Pro731Gln)
c.2666C>A (p.Pro889Gln)
c.2525C>A (p.Pro842Gln)
c.2486C>A (p.Pro829Gln)
c.2345C>A (p.Pro782Gln)
12g.109783725G>ACA6779871TRPV4c.2512C>T (p.Pro838Ser)
c.*1599C>T (n.*1599C>T)
c.2410C>T (p.Pro804Ser)
c.2332C>T (p.Pro778Ser)
c.*895C>T (n.*895C>T)
c.2371C>T (p.Pro791Ser)
c.2191C>T (p.Pro731Ser)
c.2665C>T (p.Pro889Ser)
c.2524C>T (p.Pro842Ser)
c.2485C>T (p.Pro829Ser)
c.2344C>T (p.Pro782Ser)
 ClinVar dbSNP ExAC gnomAD v4
12g.109783725G>CCA386648557TRPV4c.2512C>G (p.Pro838Ala)
c.*1599C>G (n.*1599C>G)
c.2410C>G (p.Pro804Ala)
c.2332C>G (p.Pro778Ala)
c.*895C>G (n.*895C>G)
c.2371C>G (p.Pro791Ala)
c.2191C>G (p.Pro731Ala)
c.2665C>G (p.Pro889Ala)
c.2524C>G (p.Pro842Ala)
c.2485C>G (p.Pro829Ala)
c.2344C>G (p.Pro782Ala)
12g.109783725G=CA2062557356TRPV4c.2512C= (p.Pro838=)
c.*1599C= (n.*1599C=)
c.2410C= (p.Pro804=)
c.2332C= (p.Pro778=)
c.*895C= (n.*895C=)
c.2371C= (p.Pro791=)
c.2191C= (p.Pro731=)
c.2665C= (p.Pro889=)
c.2524C= (p.Pro842=)
c.2485C= (p.Pro829=)
c.2344C= (p.Pro782=)
12g.109783725G>TCA386648558TRPV4c.2512C>A (p.Pro838Thr)
c.*1599C>A (n.*1599C>A)
c.2410C>A (p.Pro804Thr)
c.2332C>A (p.Pro778Thr)
c.*895C>A (n.*895C>A)
c.2371C>A (p.Pro791Thr)
c.2191C>A (p.Pro731Thr)
c.2665C>A (p.Pro889Thr)
c.2524C>A (p.Pro842Thr)
c.2485C>A (p.Pro829Thr)
c.2344C>A (p.Pro782Thr)
12g.109783726G>ACA481723946TRPV4c.2511C>T (p.Asn837=)
c.*1598C>T (n.*1598C>T)
c.2409C>T (p.Asn803=)
c.2331C>T (p.Asn777=)
c.*894C>T (n.*894C>T)
c.2370C>T (p.Asn790=)
c.2190C>T (p.Asn730=)
c.2664C>T (p.Asn888=)
c.2523C>T (p.Asn841=)
c.2484C>T (p.Asn828=)
c.2343C>T (p.Asn781=)
12g.109783726G>CCA386648559TRPV4c.2511C>G (p.Asn837Lys)
c.*1598C>G (n.*1598C>G)
c.2409C>G (p.Asn803Lys)
c.2331C>G (p.Asn777Lys)
c.*894C>G (n.*894C>G)
c.2370C>G (p.Asn790Lys)
c.2190C>G (p.Asn730Lys)
c.2664C>G (p.Asn888Lys)
c.2523C>G (p.Asn841Lys)
c.2484C>G (p.Asn828Lys)
c.2343C>G (p.Asn781Lys)
12g.109783726G>TCA386648560TRPV4c.2511C>A (p.Asn837Lys)
c.*1598C>A (n.*1598C>A)
c.2409C>A (p.Asn803Lys)
c.2331C>A (p.Asn777Lys)
c.*894C>A (n.*894C>A)
c.2370C>A (p.Asn790Lys)
c.2190C>A (p.Asn730Lys)
c.2664C>A (p.Asn888Lys)
c.2523C>A (p.Asn841Lys)
c.2484C>A (p.Asn828Lys)
c.2343C>A (p.Asn781Lys)
 gnomAD v4
12g.109783727T>ACA386648563TRPV4c.2510A>T (p.Asn837Ile)
c.*1597A>T (n.*1597A>T)
c.2408A>T (p.Asn803Ile)
c.2330A>T (p.Asn777Ile)
c.*893A>T (n.*893A>T)
c.2369A>T (p.Asn790Ile)
c.2189A>T (p.Asn730Ile)
c.2663A>T (p.Asn888Ile)
c.2522A>T (p.Asn841Ile)
c.2483A>T (p.Asn828Ile)
c.2342A>T (p.Asn781Ile)
12g.109783727T>CCA386648562TRPV4c.2510A>G (p.Asn837Ser)
c.*1597A>G (n.*1597A>G)
c.2408A>G (p.Asn803Ser)
c.2330A>G (p.Asn777Ser)
c.*893A>G (n.*893A>G)
c.2369A>G (p.Asn790Ser)
c.2189A>G (p.Asn730Ser)
c.2663A>G (p.Asn888Ser)
c.2522A>G (p.Asn841Ser)
c.2483A>G (p.Asn828Ser)
c.2342A>G (p.Asn781Ser)
12g.109783727T>GCA386648561TRPV4c.2510A>C (p.Asn837Thr)
c.*1597A>C (n.*1597A>C)
c.2408A>C (p.Asn803Thr)
c.2330A>C (p.Asn777Thr)
c.*893A>C (n.*893A>C)
c.2369A>C (p.Asn790Thr)
c.2189A>C (p.Asn730Thr)
c.2663A>C (p.Asn888Thr)
c.2522A>C (p.Asn841Thr)
c.2483A>C (p.Asn828Thr)
c.2342A>C (p.Asn781Thr)
12g.109783728T>ACA386648564TRPV4c.2509A>T (p.Asn837Tyr)
c.*1596A>T (n.*1596A>T)
c.2407A>T (p.Asn803Tyr)
c.2329A>T (p.Asn777Tyr)
c.*892A>T (n.*892A>T)
c.2368A>T (p.Asn790Tyr)
c.2188A>T (p.Asn730Tyr)
c.2662A>T (p.Asn888Tyr)
c.2521A>T (p.Asn841Tyr)
c.2482A>T (p.Asn828Tyr)
c.2341A>T (p.Asn781Tyr)
12g.109783728T>CCA386648565TRPV4c.2509A>G (p.Asn837Asp)
c.*1596A>G (n.*1596A>G)
c.2407A>G (p.Asn803Asp)
c.2329A>G (p.Asn777Asp)
c.*892A>G (n.*892A>G)
c.2368A>G (p.Asn790Asp)
c.2188A>G (p.Asn730Asp)
c.2662A>G (p.Asn888Asp)
c.2521A>G (p.Asn841Asp)
c.2482A>G (p.Asn828Asp)
c.2341A>G (p.Asn781Asp)
12g.109783728T>GCA386648566TRPV4c.2509A>C (p.Asn837His)
c.*1596A>C (n.*1596A>C)
c.2407A>C (p.Asn803His)
c.2329A>C (p.Asn777His)
c.*892A>C (n.*892A>C)
c.2368A>C (p.Asn790His)
c.2188A>C (p.Asn730His)
c.2662A>C (p.Asn888His)
c.2521A>C (p.Asn841His)
c.2482A>C (p.Asn828His)
c.2341A>C (p.Asn781His)
12g.109783729C>ACA243494135TRPV4c.2508G>T (p.Ser836=)
c.*1595G>T (n.*1595G>T)
c.2406G>T (p.Ser802=)
c.2328G>T (p.Ser776=)
c.*891G>T (n.*891G>T)
c.2367G>T (p.Ser789=)
c.2187G>T (p.Ser729=)
c.2661G>T (p.Ser887=)
c.2520G>T (p.Ser840=)
c.2481G>T (p.Ser827=)
c.2340G>T (p.Ser780=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.109783729C=CA2062557359TRPV4c.2508G= (p.Ser836=)
c.*1595G= (n.*1595G=)
c.2406G= (p.Ser802=)
c.2328G= (p.Ser776=)
c.*891G= (n.*891G=)
c.2367G= (p.Ser789=)
c.2187G= (p.Ser729=)
c.2661G= (p.Ser887=)
c.2520G= (p.Ser840=)
c.2481G= (p.Ser827=)
c.2340G= (p.Ser780=)
12g.109783729C>GCA481723947TRPV4c.2508G>C (p.Ser836=)
c.*1595G>C (n.*1595G>C)
c.2406G>C (p.Ser802=)
c.2328G>C (p.Ser776=)
c.*891G>C (n.*891G>C)
c.2367G>C (p.Ser789=)
c.2187G>C (p.Ser729=)
c.2661G>C (p.Ser887=)
c.2520G>C (p.Ser840=)
c.2481G>C (p.Ser827=)
c.2340G>C (p.Ser780=)
 dbSNP gnomAD v3 gnomAD v4
12g.109783729C>TCA6779872TRPV4c.2508G>A (p.Ser836=)
c.*1595G>A (n.*1595G>A)
c.2406G>A (p.Ser802=)
c.2328G>A (p.Ser776=)
c.*891G>A (n.*891G>A)
c.2367G>A (p.Ser789=)
c.2187G>A (p.Ser729=)
c.2661G>A (p.Ser887=)
c.2520G>A (p.Ser840=)
c.2481G>A (p.Ser827=)
c.2340G>A (p.Ser780=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783730G>ACA386648567TRPV4c.2507C>T (p.Ser836Leu)
c.*1594C>T (n.*1594C>T)
c.2405C>T (p.Ser802Leu)
c.2327C>T (p.Ser776Leu)
c.*890C>T (n.*890C>T)
c.2366C>T (p.Ser789Leu)
c.2186C>T (p.Ser729Leu)
c.2660C>T (p.Ser887Leu)
c.2519C>T (p.Ser840Leu)
c.2480C>T (p.Ser827Leu)
c.2339C>T (p.Ser780Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.109783730G>CCA6779873TRPV4c.2507C>G (p.Ser836Trp)
c.*1594C>G (n.*1594C>G)
c.2405C>G (p.Ser802Trp)
c.2327C>G (p.Ser776Trp)
c.*890C>G (n.*890C>G)
c.2366C>G (p.Ser789Trp)
c.2186C>G (p.Ser729Trp)
c.2660C>G (p.Ser887Trp)
c.2519C>G (p.Ser840Trp)
c.2480C>G (p.Ser827Trp)
c.2339C>G (p.Ser780Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.109783730G=CA2062557361TRPV4c.2507C= (p.Ser836=)
c.*1594C= (n.*1594C=)
c.2405C= (p.Ser802=)
c.2327C= (p.Ser776=)
c.*890C= (n.*890C=)
c.2366C= (p.Ser789=)
c.2186C= (p.Ser729=)
c.2660C= (p.Ser887=)
c.2519C= (p.Ser840=)
c.2480C= (p.Ser827=)
c.2339C= (p.Ser780=)
12g.109783730G>TCA386648568TRPV4c.2507C>A (p.Ser836Ter)
c.*1594C>A (n.*1594C>A)
c.2405C>A (p.Ser802Ter)
c.2327C>A (p.Ser776Ter)
c.*890C>A (n.*890C>A)
c.2366C>A (p.Ser789Ter)
c.2186C>A (p.Ser729Ter)
c.2660C>A (p.Ser887Ter)
c.2519C>A (p.Ser840Ter)
c.2480C>A (p.Ser827Ter)
c.2339C>A (p.Ser780Ter)
 gnomAD v4
12g.109783731A>CCA386648569TRPV4c.2506T>G (p.Ser836Ala)
c.*1593T>G (n.*1593T>G)
c.2404T>G (p.Ser802Ala)
c.2326T>G (p.Ser776Ala)
c.*889T>G (n.*889T>G)
c.2365T>G (p.Ser789Ala)
c.2185T>G (p.Ser729Ala)
c.2659T>G (p.Ser887Ala)
c.2518T>G (p.Ser840Ala)
c.2479T>G (p.Ser827Ala)
c.2338T>G (p.Ser780Ala)
12g.109783731A>GCA386648570TRPV4c.2506T>C (p.Ser836Pro)
c.*1593T>C (n.*1593T>C)
c.2404T>C (p.Ser802Pro)
c.2326T>C (p.Ser776Pro)
c.*889T>C (n.*889T>C)
c.2365T>C (p.Ser789Pro)
c.2185T>C (p.Ser729Pro)
c.2659T>C (p.Ser887Pro)
c.2518T>C (p.Ser840Pro)
c.2479T>C (p.Ser827Pro)
c.2338T>C (p.Ser780Pro)
12g.109783731A>TCA386648571TRPV4c.2506T>A (p.Ser836Thr)
c.*1593T>A (n.*1593T>A)
c.2404T>A (p.Ser802Thr)
c.2326T>A (p.Ser776Thr)
c.*889T>A (n.*889T>A)
c.2365T>A (p.Ser789Thr)
c.2185T>A (p.Ser729Thr)
c.2659T>A (p.Ser887Thr)
c.2518T>A (p.Ser840Thr)
c.2479T>A (p.Ser827Thr)
c.2338T>A (p.Ser780Thr)
12g.109783732G>ACA481723948TRPV4c.2505C>T (p.Asn835=)
c.*1592C>T (n.*1592C>T)
c.2403C>T (p.Asn801=)
c.2325C>T (p.Asn775=)
c.*888C>T (n.*888C>T)
c.2364C>T (p.Asn788=)
c.2184C>T (p.Asn728=)
c.2658C>T (p.Asn886=)
c.2517C>T (p.Asn839=)
c.2478C>T (p.Asn826=)
c.2337C>T (p.Asn779=)
 gnomAD v4
12g.109783732G>CCA386648572TRPV4c.2505C>G (p.Asn835Lys)
c.*1592C>G (n.*1592C>G)
c.2403C>G (p.Asn801Lys)
c.2325C>G (p.Asn775Lys)
c.*888C>G (n.*888C>G)
c.2364C>G (p.Asn788Lys)
c.2184C>G (p.Asn728Lys)
c.2658C>G (p.Asn886Lys)
c.2517C>G (p.Asn839Lys)
c.2478C>G (p.Asn826Lys)
c.2337C>G (p.Asn779Lys)
12g.109783732G=CA2062557365TRPV4c.2505C= (p.Asn835=)
c.*1592C= (n.*1592C=)
c.2403C= (p.Asn801=)
c.2325C= (p.Asn775=)
c.*888C= (n.*888C=)
c.2364C= (p.Asn788=)
c.2184C= (p.Asn728=)
c.2658C= (p.Asn886=)
c.2517C= (p.Asn839=)
c.2478C= (p.Asn826=)
c.2337C= (p.Asn779=)
12g.109783732G>TCA386648573TRPV4c.2505C>A (p.Asn835Lys)
c.*1592C>A (n.*1592C>A)
c.2403C>A (p.Asn801Lys)
c.2325C>A (p.Asn775Lys)
c.*888C>A (n.*888C>A)
c.2364C>A (p.Asn788Lys)
c.2184C>A (p.Asn728Lys)
c.2658C>A (p.Asn886Lys)
c.2517C>A (p.Asn839Lys)
c.2478C>A (p.Asn826Lys)
c.2337C>A (p.Asn779Lys)
 dbSNP gnomAD v2 gnomAD v4
12g.109783733T>ACA386648574TRPV4c.2504A>T (p.Asn835Ile)
c.*1591A>T (n.*1591A>T)
c.2402A>T (p.Asn801Ile)
c.2324A>T (p.Asn775Ile)
c.*887A>T (n.*887A>T)
c.2363A>T (p.Asn788Ile)
c.2183A>T (p.Asn728Ile)
c.2657A>T (p.Asn886Ile)
c.2516A>T (p.Asn839Ile)
c.2477A>T (p.Asn826Ile)
c.2336A>T (p.Asn779Ile)
12g.109783733T>CCA386648576TRPV4c.2504A>G (p.Asn835Ser)
c.*1591A>G (n.*1591A>G)
c.2402A>G (p.Asn801Ser)
c.2324A>G (p.Asn775Ser)
c.*887A>G (n.*887A>G)
c.2363A>G (p.Asn788Ser)
c.2183A>G (p.Asn728Ser)
c.2657A>G (p.Asn886Ser)
c.2516A>G (p.Asn839Ser)
c.2477A>G (p.Asn826Ser)
c.2336A>G (p.Asn779Ser)
 dbSNP gnomAD v4
12g.109783733T>GCA386648575TRPV4c.2504A>C (p.Asn835Thr)
c.*1591A>C (n.*1591A>C)
c.2402A>C (p.Asn801Thr)
c.2324A>C (p.Asn775Thr)
c.*887A>C (n.*887A>C)
c.2363A>C (p.Asn788Thr)
c.2183A>C (p.Asn728Thr)
c.2657A>C (p.Asn886Thr)
c.2516A>C (p.Asn839Thr)
c.2477A>C (p.Asn826Thr)
c.2336A>C (p.Asn779Thr)
 dbSNP gnomAD v3 gnomAD v4
12g.109783733T=CA2062557368TRPV4c.2504A= (p.Asn835=)
c.*1591A= (n.*1591A=)
c.2402A= (p.Asn801=)
c.2324A= (p.Asn775=)
c.*887A= (n.*887A=)
c.2363A= (p.Asn788=)
c.2183A= (p.Asn728=)
c.2657A= (p.Asn886=)
c.2516A= (p.Asn839=)
c.2477A= (p.Asn826=)
c.2336A= (p.Asn779=)
12g.109783734T>ACA386648577TRPV4c.2503A>T (p.Asn835Tyr)
c.*1590A>T (n.*1590A>T)
c.2401A>T (p.Asn801Tyr)
c.2323A>T (p.Asn775Tyr)
c.*886A>T (n.*886A>T)
c.2362A>T (p.Asn788Tyr)
c.2182A>T (p.Asn728Tyr)
c.2656A>T (p.Asn886Tyr)
c.2515A>T (p.Asn839Tyr)
c.2476A>T (p.Asn826Tyr)
c.2335A>T (p.Asn779Tyr)
12g.109783734T>CCA386648579TRPV4c.2503A>G (p.Asn835Asp)
c.*1590A>G (n.*1590A>G)
c.2401A>G (p.Asn801Asp)
c.2323A>G (p.Asn775Asp)
c.*886A>G (n.*886A>G)
c.2362A>G (p.Asn788Asp)
c.2182A>G (p.Asn728Asp)
c.2656A>G (p.Asn886Asp)
c.2515A>G (p.Asn839Asp)
c.2476A>G (p.Asn826Asp)
c.2335A>G (p.Asn779Asp)
12g.109783734T>GCA386648578TRPV4c.2503A>C (p.Asn835His)
c.*1590A>C (n.*1590A>C)
c.2401A>C (p.Asn801His)
c.2323A>C (p.Asn775His)
c.*886A>C (n.*886A>C)
c.2362A>C (p.Asn788His)
c.2182A>C (p.Asn728His)
c.2656A>C (p.Asn886His)
c.2515A>C (p.Asn839His)
c.2476A>C (p.Asn826His)
c.2335A>C (p.Asn779His)
12g.109783735C>ACA386648580TRPV4c.2502G>T (p.Lys834Asn)
c.*1589G>T (n.*1589G>T)
c.2400G>T (p.Lys800Asn)
c.2322G>T (p.Lys774Asn)
c.*885G>T (n.*885G>T)
c.2361G>T (p.Lys787Asn)
c.2181G>T (p.Lys727Asn)
c.2655G>T (p.Lys885Asn)
c.2514G>T (p.Lys838Asn)
c.2475G>T (p.Lys825Asn)
c.2334G>T (p.Lys778Asn)
 COSMIC
12g.109783735C=CA2062557371TRPV4c.2502G= (p.Lys834=)
c.*1589G= (n.*1589G=)
c.2400G= (p.Lys800=)
c.2322G= (p.Lys774=)
c.*885G= (n.*885G=)
c.2361G= (p.Lys787=)
c.2181G= (p.Lys727=)
c.2655G= (p.Lys885=)
c.2514G= (p.Lys838=)
c.2475G= (p.Lys825=)
c.2334G= (p.Lys778=)
12g.109783735C>GCA386648581TRPV4c.2502G>C (p.Lys834Asn)
c.*1589G>C (n.*1589G>C)
c.2400G>C (p.Lys800Asn)
c.2322G>C (p.Lys774Asn)
c.*885G>C (n.*885G>C)
c.2361G>C (p.Lys787Asn)
c.2181G>C (p.Lys727Asn)
c.2655G>C (p.Lys885Asn)
c.2514G>C (p.Lys838Asn)
c.2475G>C (p.Lys825Asn)
c.2334G>C (p.Lys778Asn)
12g.109783735C>TCA481723949TRPV4c.2502G>A (p.Lys834=)
c.*1589G>A (n.*1589G>A)
c.2400G>A (p.Lys800=)
c.2322G>A (p.Lys774=)
c.*885G>A (n.*885G>A)
c.2361G>A (p.Lys787=)
c.2181G>A (p.Lys727=)
c.2655G>A (p.Lys885=)
c.2514G>A (p.Lys838=)
c.2475G>A (p.Lys825=)
c.2334G>A (p.Lys778=)
 dbSNP gnomAD v3 gnomAD v4
12g.109783736T>ACA386648582TRPV4c.2501A>T (p.Lys834Met)
c.*1588A>T (n.*1588A>T)
c.2399A>T (p.Lys800Met)
c.2321A>T (p.Lys774Met)
c.*884A>T (n.*884A>T)
c.2360A>T (p.Lys787Met)
c.2180A>T (p.Lys727Met)
c.2654A>T (p.Lys885Met)
c.2513A>T (p.Lys838Met)
c.2474A>T (p.Lys825Met)
c.2333A>T (p.Lys778Met)
12g.109783736T>CCA386648583TRPV4c.2501A>G (p.Lys834Arg)
c.*1588A>G (n.*1588A>G)
c.2399A>G (p.Lys800Arg)
c.2321A>G (p.Lys774Arg)
c.*884A>G (n.*884A>G)
c.2360A>G (p.Lys787Arg)
c.2180A>G (p.Lys727Arg)
c.2654A>G (p.Lys885Arg)
c.2513A>G (p.Lys838Arg)
c.2474A>G (p.Lys825Arg)
c.2333A>G (p.Lys778Arg)
12g.109783736T>GCA386648584TRPV4c.2501A>C (p.Lys834Thr)
c.*1588A>C (n.*1588A>C)
c.2399A>C (p.Lys800Thr)
c.2321A>C (p.Lys774Thr)
c.*884A>C (n.*884A>C)
c.2360A>C (p.Lys787Thr)
c.2180A>C (p.Lys727Thr)
c.2654A>C (p.Lys885Thr)
c.2513A>C (p.Lys838Thr)
c.2474A>C (p.Lys825Thr)
c.2333A>C (p.Lys778Thr)
12g.109783737T>ACA386648587TRPV4c.2500A>T (p.Lys834Ter)
c.*1587A>T (n.*1587A>T)
c.2398A>T (p.Lys800Ter)
c.2320A>T (p.Lys774Ter)
c.*883A>T (n.*883A>T)
c.2359A>T (p.Lys787Ter)
c.2179A>T (p.Lys727Ter)
c.2653A>T (p.Lys885Ter)
c.2512A>T (p.Lys838Ter)
c.2473A>T (p.Lys825Ter)
c.2332A>T (p.Lys778Ter)
12g.109783737T>CCA386648586TRPV4c.2500A>G (p.Lys834Glu)
c.*1587A>G (n.*1587A>G)
c.2398A>G (p.Lys800Glu)
c.2320A>G (p.Lys774Glu)
c.*883A>G (n.*883A>G)
c.2359A>G (p.Lys787Glu)
c.2179A>G (p.Lys727Glu)
c.2653A>G (p.Lys885Glu)
c.2512A>G (p.Lys838Glu)
c.2473A>G (p.Lys825Glu)
c.2332A>G (p.Lys778Glu)
12g.109783737T>GCA386648585TRPV4c.2500A>C (p.Lys834Gln)
c.*1587A>C (n.*1587A>C)
c.2398A>C (p.Lys800Gln)
c.2320A>C (p.Lys774Gln)
c.*883A>C (n.*883A>C)
c.2359A>C (p.Lys787Gln)
c.2179A>C (p.Lys727Gln)
c.2653A>C (p.Lys885Gln)
c.2512A>C (p.Lys838Gln)
c.2473A>C (p.Lys825Gln)
c.2332A>C (p.Lys778Gln)
12g.109783738G>ACA6779874TRPV4c.2499C>T (p.Asn833=)
c.*1586C>T (n.*1586C>T)
c.2397C>T (p.Asn799=)
c.2319C>T (p.Asn773=)
c.*882C>T (n.*882C>T)
c.2358C>T (p.Asn786=)
c.2178C>T (p.Asn726=)
c.2652C>T (p.Asn884=)
c.2511C>T (p.Asn837=)
c.2472C>T (p.Asn824=)
c.2331C>T (p.Asn777=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783738G>CCA386648588TRPV4c.2499C>G (p.Asn833Lys)
c.*1586C>G (n.*1586C>G)
c.2397C>G (p.Asn799Lys)
c.2319C>G (p.Asn773Lys)
c.*882C>G (n.*882C>G)
c.2358C>G (p.Asn786Lys)
c.2178C>G (p.Asn726Lys)
c.2652C>G (p.Asn884Lys)
c.2511C>G (p.Asn837Lys)
c.2472C>G (p.Asn824Lys)
c.2331C>G (p.Asn777Lys)
12g.109783738G=CA2062557374TRPV4c.2499C= (p.Asn833=)
c.*1586C= (n.*1586C=)
c.2397C= (p.Asn799=)
c.2319C= (p.Asn773=)
c.*882C= (n.*882C=)
c.2358C= (p.Asn786=)
c.2178C= (p.Asn726=)
c.2652C= (p.Asn884=)
c.2511C= (p.Asn837=)
c.2472C= (p.Asn824=)
c.2331C= (p.Asn777=)
12g.109783738G>TCA386648589TRPV4c.2499C>A (p.Asn833Lys)
c.*1586C>A (n.*1586C>A)
c.2397C>A (p.Asn799Lys)
c.2319C>A (p.Asn773Lys)
c.*882C>A (n.*882C>A)
c.2358C>A (p.Asn786Lys)
c.2178C>A (p.Asn726Lys)
c.2652C>A (p.Asn884Lys)
c.2511C>A (p.Asn837Lys)
c.2472C>A (p.Asn824Lys)
c.2331C>A (p.Asn777Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.109783739T>ACA386648590TRPV4c.2498A>T (p.Asn833Ile)
c.*1585A>T (n.*1585A>T)
c.2396A>T (p.Asn799Ile)
c.2318A>T (p.Asn773Ile)
c.*881A>T (n.*881A>T)
c.2357A>T (p.Asn786Ile)
c.2177A>T (p.Asn726Ile)
c.2651A>T (p.Asn884Ile)
c.2510A>T (p.Asn837Ile)
c.2471A>T (p.Asn824Ile)
c.2330A>T (p.Asn777Ile)
12g.109783739T>CCA338578TRPV4c.2498A>G (p.Asn833Ser)
c.*1585A>G (n.*1585A>G)
c.2396A>G (p.Asn799Ser)
c.2318A>G (p.Asn773Ser)
c.*881A>G (n.*881A>G)
c.2357A>G (p.Asn786Ser)
c.2177A>G (p.Asn726Ser)
c.2651A>G (p.Asn884Ser)
c.2510A>G (p.Asn837Ser)
c.2471A>G (p.Asn824Ser)
c.2330A>G (p.Asn777Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783739T>GCA386648591TRPV4c.2498A>C (p.Asn833Thr)
c.*1585A>C (n.*1585A>C)
c.2396A>C (p.Asn799Thr)
c.2318A>C (p.Asn773Thr)
c.*881A>C (n.*881A>C)
c.2357A>C (p.Asn786Thr)
c.2177A>C (p.Asn726Thr)
c.2651A>C (p.Asn884Thr)
c.2510A>C (p.Asn837Thr)
c.2471A>C (p.Asn824Thr)
c.2330A>C (p.Asn777Thr)
12g.109783739T=CA2062557382TRPV4c.2498A= (p.Asn833=)
c.*1585A= (n.*1585A=)
c.2396A= (p.Asn799=)
c.2318A= (p.Asn773=)
c.*881A= (n.*881A=)
c.2357A= (p.Asn786=)
c.2177A= (p.Asn726=)
c.2651A= (p.Asn884=)
c.2510A= (p.Asn837=)
c.2471A= (p.Asn824=)
c.2330A= (p.Asn777=)
12g.109783740T>ACA386648592TRPV4c.2497A>T (p.Asn833Tyr)
c.*1584A>T (n.*1584A>T)
c.2395A>T (p.Asn799Tyr)
c.2317A>T (p.Asn773Tyr)
c.*880A>T (n.*880A>T)
c.2356A>T (p.Asn786Tyr)
c.2176A>T (p.Asn726Tyr)
c.2650A>T (p.Asn884Tyr)
c.2509A>T (p.Asn837Tyr)
c.2470A>T (p.Asn824Tyr)
c.2329A>T (p.Asn777Tyr)
12g.109783740T>CCA386648594TRPV4c.2497A>G (p.Asn833Asp)
c.*1584A>G (n.*1584A>G)
c.2395A>G (p.Asn799Asp)
c.2317A>G (p.Asn773Asp)
c.*880A>G (n.*880A>G)
c.2356A>G (p.Asn786Asp)
c.2176A>G (p.Asn726Asp)
c.2650A>G (p.Asn884Asp)
c.2509A>G (p.Asn837Asp)
c.2470A>G (p.Asn824Asp)
c.2329A>G (p.Asn777Asp)
12g.109783740T>GCA386648593TRPV4c.2497A>C (p.Asn833His)
c.*1584A>C (n.*1584A>C)
c.2395A>C (p.Asn799His)
c.2317A>C (p.Asn773His)
c.*880A>C (n.*880A>C)
c.2356A>C (p.Asn786His)
c.2176A>C (p.Asn726His)
c.2650A>C (p.Asn884His)
c.2509A>C (p.Asn837His)
c.2470A>C (p.Asn824His)
c.2329A>C (p.Asn777His)
12g.109783741C>ACA481723950TRPV4c.2496G>T (p.Leu832=)
c.*1583G>T (n.*1583G>T)
c.2394G>T (p.Leu798=)
c.2316G>T (p.Leu772=)
c.*879G>T (n.*879G>T)
c.2355G>T (p.Leu785=)
c.2175G>T (p.Leu725=)
c.2649G>T (p.Leu883=)
c.2508G>T (p.Leu836=)
c.2469G>T (p.Leu823=)
c.2328G>T (p.Leu776=)
12g.109783741C=CA2062557385TRPV4c.2496G= (p.Leu832=)
c.*1583G= (n.*1583G=)
c.2394G= (p.Leu798=)
c.2316G= (p.Leu772=)
c.*879G= (n.*879G=)
c.2355G= (p.Leu785=)
c.2175G= (p.Leu725=)
c.2649G= (p.Leu883=)
c.2508G= (p.Leu836=)
c.2469G= (p.Leu823=)
c.2328G= (p.Leu776=)
12g.109783741C>GCA6779875TRPV4c.2496G>C (p.Leu832=)
c.*1583G>C (n.*1583G>C)
c.2394G>C (p.Leu798=)
c.2316G>C (p.Leu772=)
c.*879G>C (n.*879G>C)
c.2355G>C (p.Leu785=)
c.2175G>C (p.Leu725=)
c.2649G>C (p.Leu883=)
c.2508G>C (p.Leu836=)
c.2469G>C (p.Leu823=)
c.2328G>C (p.Leu776=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.109783741C>TCA481723951TRPV4c.2496G>A (p.Leu832=)
c.*1583G>A (n.*1583G>A)
c.2394G>A (p.Leu798=)
c.2316G>A (p.Leu772=)
c.*879G>A (n.*879G>A)
c.2355G>A (p.Leu785=)
c.2175G>A (p.Leu725=)
c.2649G>A (p.Leu883=)
c.2508G>A (p.Leu836=)
c.2469G>A (p.Leu823=)
c.2328G>A (p.Leu776=)
12g.109783742A=CA2062557388TRPV4c.2495T= (p.Leu832=)
c.*1582T= (n.*1582T=)
c.2393T= (p.Leu798=)
c.2315T= (p.Leu772=)
c.*878T= (n.*878T=)
c.2354T= (p.Leu785=)
c.2174T= (p.Leu725=)
c.2648T= (p.Leu883=)
c.2507T= (p.Leu836=)
c.2468T= (p.Leu823=)
c.2327T= (p.Leu776=)
12g.109783742A>CCA386648595TRPV4c.2495T>G (p.Leu832Arg)
c.*1582T>G (n.*1582T>G)
c.2393T>G (p.Leu798Arg)
c.2315T>G (p.Leu772Arg)
c.*878T>G (n.*878T>G)
c.2354T>G (p.Leu785Arg)
c.2174T>G (p.Leu725Arg)
c.2648T>G (p.Leu883Arg)
c.2507T>G (p.Leu836Arg)
c.2468T>G (p.Leu823Arg)
c.2327T>G (p.Leu776Arg)
 ClinVar dbSNP
12g.109783742A>GCA386648596TRPV4c.2495T>C (p.Leu832Pro)
c.*1582T>C (n.*1582T>C)
c.2393T>C (p.Leu798Pro)
c.2315T>C (p.Leu772Pro)
c.*878T>C (n.*878T>C)
c.2354T>C (p.Leu785Pro)
c.2174T>C (p.Leu725Pro)
c.2648T>C (p.Leu883Pro)
c.2507T>C (p.Leu836Pro)
c.2468T>C (p.Leu823Pro)
c.2327T>C (p.Leu776Pro)
12g.109783742A>TCA386648597TRPV4c.2495T>A (p.Leu832Gln)
c.*1582T>A (n.*1582T>A)
c.2393T>A (p.Leu798Gln)
c.2315T>A (p.Leu772Gln)
c.*878T>A (n.*878T>A)
c.2354T>A (p.Leu785Gln)
c.2174T>A (p.Leu725Gln)
c.2648T>A (p.Leu883Gln)
c.2507T>A (p.Leu836Gln)
c.2468T>A (p.Leu823Gln)
c.2327T>A (p.Leu776Gln)
12g.109783743G>ACA481723952TRPV4c.2494C>T (p.Leu832=)
c.*1581C>T (n.*1581C>T)
c.2392C>T (p.Leu798=)
c.2314C>T (p.Leu772=)
c.*877C>T (n.*877C>T)
c.2353C>T (p.Leu785=)
c.2173C>T (p.Leu725=)
c.2647C>T (p.Leu883=)
c.2506C>T (p.Leu836=)
c.2467C>T (p.Leu823=)
c.2326C>T (p.Leu776=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
12g.109783743G>CCA386648598TRPV4c.2494C>G (p.Leu832Val)
c.*1581C>G (n.*1581C>G)
c.2392C>G (p.Leu798Val)
c.2314C>G (p.Leu772Val)
c.*877C>G (n.*877C>G)
c.2353C>G (p.Leu785Val)
c.2173C>G (p.Leu725Val)
c.2647C>G (p.Leu883Val)
c.2506C>G (p.Leu836Val)
c.2467C>G (p.Leu823Val)
c.2326C>G (p.Leu776Val)
12g.109783743G=CA2062557391TRPV4c.2494C= (p.Leu832=)
c.*1581C= (n.*1581C=)
c.2392C= (p.Leu798=)
c.2314C= (p.Leu772=)
c.*877C= (n.*877C=)
c.2353C= (p.Leu785=)
c.2173C= (p.Leu725=)
c.2647C= (p.Leu883=)
c.2506C= (p.Leu836=)
c.2467C= (p.Leu823=)
c.2326C= (p.Leu776=)
12g.109783743G>TCA243494151TRPV4c.2494C>A (p.Leu832Met)
c.*1581C>A (n.*1581C>A)
c.2392C>A (p.Leu798Met)
c.2314C>A (p.Leu772Met)
c.*877C>A (n.*877C>A)
c.2353C>A (p.Leu785Met)
c.2173C>A (p.Leu725Met)
c.2647C>A (p.Leu883Met)
c.2506C>A (p.Leu836Met)
c.2467C>A (p.Leu823Met)
c.2326C>A (p.Leu776Met)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109783744T>ACA386648599TRPV4c.2493A>T (p.Glu831Asp)
c.*1580A>T (n.*1580A>T)
c.2391A>T (p.Glu797Asp)
c.2313A>T (p.Glu771Asp)
c.*876A>T (n.*876A>T)
c.2352A>T (p.Glu784Asp)
c.2172A>T (p.Glu724Asp)
c.2646A>T (p.Glu882Asp)
c.2505A>T (p.Glu835Asp)
c.2466A>T (p.Glu822Asp)
c.2325A>T (p.Glu775Asp)
12g.109783744T>CCA481723953TRPV4c.2493A>G (p.Glu831=)
c.*1580A>G (n.*1580A>G)
c.2391A>G (p.Glu797=)
c.2313A>G (p.Glu771=)
c.*876A>G (n.*876A>G)
c.2352A>G (p.Glu784=)
c.2172A>G (p.Glu724=)
c.2646A>G (p.Glu882=)
c.2505A>G (p.Glu835=)
c.2466A>G (p.Glu822=)
c.2325A>G (p.Glu775=)
12g.109783744T>GCA386648600TRPV4c.2493A>C (p.Glu831Asp)
c.*1580A>C (n.*1580A>C)
c.2391A>C (p.Glu797Asp)
c.2313A>C (p.Glu771Asp)
c.*876A>C (n.*876A>C)
c.2352A>C (p.Glu784Asp)
c.2172A>C (p.Glu724Asp)
c.2646A>C (p.Glu882Asp)
c.2505A>C (p.Glu835Asp)
c.2466A>C (p.Glu822Asp)
c.2325A>C (p.Glu775Asp)
12g.109783745T>ACA386648601TRPV4c.2492A>T (p.Glu831Val)
c.*1579A>T (n.*1579A>T)
c.2390A>T (p.Glu797Val)
c.2312A>T (p.Glu771Val)
c.*875A>T (n.*875A>T)
c.2351A>T (p.Glu784Val)
c.2171A>T (p.Glu724Val)
c.2645A>T (p.Glu882Val)
c.2504A>T (p.Glu835Val)
c.2465A>T (p.Glu822Val)
c.2324A>T (p.Glu775Val)
12g.109783745T>CCA386648602TRPV4c.2492A>G (p.Glu831Gly)
c.*1579A>G (n.*1579A>G)
c.2390A>G (p.Glu797Gly)
c.2312A>G (p.Glu771Gly)
c.*875A>G (n.*875A>G)
c.2351A>G (p.Glu784Gly)
c.2171A>G (p.Glu724Gly)
c.2645A>G (p.Glu882Gly)
c.2504A>G (p.Glu835Gly)
c.2465A>G (p.Glu822Gly)
c.2324A>G (p.Glu775Gly)
12g.109783745T>GCA386648603TRPV4c.2492A>C (p.Glu831Ala)
c.*1579A>C (n.*1579A>C)
c.2390A>C (p.Glu797Ala)
c.2312A>C (p.Glu771Ala)
c.*875A>C (n.*875A>C)
c.2351A>C (p.Glu784Ala)
c.2171A>C (p.Glu724Ala)
c.2645A>C (p.Glu882Ala)
c.2504A>C (p.Glu835Ala)
c.2465A>C (p.Glu822Ala)
c.2324A>C (p.Glu775Ala)
12g.109783746C>ACA386648604TRPV4c.2491G>T (p.Glu831Ter)
c.*1578G>T (n.*1578G>T)
c.2389G>T (p.Glu797Ter)
c.2311G>T (p.Glu771Ter)
c.*874G>T (n.*874G>T)
c.2350G>T (p.Glu784Ter)
c.2170G>T (p.Glu724Ter)
c.2644G>T (p.Glu882Ter)
c.2503G>T (p.Glu835Ter)
c.2464G>T (p.Glu822Ter)
c.2323G>T (p.Glu775Ter)
12g.109783746C>GCA386648606TRPV4c.2491G>C (p.Glu831Gln)
c.*1578G>C (n.*1578G>C)
c.2389G>C (p.Glu797Gln)
c.2311G>C (p.Glu771Gln)
c.*874G>C (n.*874G>C)
c.2350G>C (p.Glu784Gln)
c.2170G>C (p.Glu724Gln)
c.2644G>C (p.Glu882Gln)
c.2503G>C (p.Glu835Gln)
c.2464G>C (p.Glu822Gln)
c.2323G>C (p.Glu775Gln)
12g.109783746C>TCA386648605TRPV4c.2491G>A (p.Glu831Lys)
c.*1578G>A (n.*1578G>A)
c.2389G>A (p.Glu797Lys)
c.2311G>A (p.Glu771Lys)
c.*874G>A (n.*874G>A)
c.2350G>A (p.Glu784Lys)
c.2170G>A (p.Glu724Lys)
c.2644G>A (p.Glu882Lys)
c.2503G>A (p.Glu835Lys)
c.2464G>A (p.Glu822Lys)
c.2323G>A (p.Glu775Lys)
 COSMIC
12g.109783747C>ACA481723954TRPV4c.2490G>T (p.Val830=)
c.*1577G>T (n.*1577G>T)
c.2388G>T (p.Val796=)
c.2310G>T (p.Val770=)
c.*873G>T (n.*873G>T)
c.2349G>T (p.Val783=)
c.2169G>T (p.Val723=)
c.2643G>T (p.Val881=)
c.2502G>T (p.Val834=)
c.2463G>T (p.Val821=)
c.2322G>T (p.Val774=)
12g.109783747C>GCA481723955TRPV4c.2490G>C (p.Val830=)
c.*1577G>C (n.*1577G>C)
c.2388G>C (p.Val796=)
c.2310G>C (p.Val770=)
c.*873G>C (n.*873G>C)
c.2349G>C (p.Val783=)
c.2169G>C (p.Val723=)
c.2643G>C (p.Val881=)
c.2502G>C (p.Val834=)
c.2463G>C (p.Val821=)
c.2322G>C (p.Val774=)
12g.109783747C>TCA481723956TRPV4c.2490G>A (p.Val830=)
c.*1577G>A (n.*1577G>A)
c.2388G>A (p.Val796=)
c.2310G>A (p.Val770=)
c.*873G>A (n.*873G>A)
c.2349G>A (p.Val783=)
c.2169G>A (p.Val723=)
c.2643G>A (p.Val881=)
c.2502G>A (p.Val834=)
c.2463G>A (p.Val821=)
c.2322G>A (p.Val774=)
12g.109783748A=CA2062557396TRPV4c.2489T= (p.Val830=)
c.*1576T= (n.*1576T=)
c.2387T= (p.Val796=)
c.2309T= (p.Val770=)
c.*872T= (n.*872T=)
c.2348T= (p.Val783=)
c.2168T= (p.Val723=)
c.2642T= (p.Val881=)
c.2501T= (p.Val834=)
c.2462T= (p.Val821=)
c.2321T= (p.Val774=)
12g.109783748A>CCA386648607TRPV4c.2489T>G (p.Val830Gly)
c.*1576T>G (n.*1576T>G)
c.2387T>G (p.Val796Gly)
c.2309T>G (p.Val770Gly)
c.*872T>G (n.*872T>G)
c.2348T>G (p.Val783Gly)
c.2168T>G (p.Val723Gly)
c.2642T>G (p.Val881Gly)
c.2501T>G (p.Val834Gly)
c.2462T>G (p.Val821Gly)
c.2321T>G (p.Val774Gly)
12g.109783748A>GCA386648608TRPV4c.2489T>C (p.Val830Ala)
c.*1576T>C (n.*1576T>C)
c.2387T>C (p.Val796Ala)
c.2309T>C (p.Val770Ala)
c.*872T>C (n.*872T>C)
c.2348T>C (p.Val783Ala)
c.2168T>C (p.Val723Ala)
c.2642T>C (p.Val881Ala)
c.2501T>C (p.Val834Ala)
c.2462T>C (p.Val821Ala)
c.2321T>C (p.Val774Ala)
 ClinVar dbSNP
12g.109783748A>TCA386648609TRPV4c.2489T>A (p.Val830Glu)
c.*1576T>A (n.*1576T>A)
c.2387T>A (p.Val796Glu)
c.2309T>A (p.Val770Glu)
c.*872T>A (n.*872T>A)
c.2348T>A (p.Val783Glu)
c.2168T>A (p.Val723Glu)
c.2642T>A (p.Val881Glu)
c.2501T>A (p.Val834Glu)
c.2462T>A (p.Val821Glu)
c.2321T>A (p.Val774Glu)
12g.109783749C>ACA386648610TRPV4c.2488G>T (p.Val830Leu)
c.*1575G>T (n.*1575G>T)
c.2386G>T (p.Val796Leu)
c.2308G>T (p.Val770Leu)
c.*871G>T (n.*871G>T)
c.2347G>T (p.Val783Leu)
c.2167G>T (p.Val723Leu)
c.2641G>T (p.Val881Leu)
c.2500G>T (p.Val834Leu)
c.2461G>T (p.Val821Leu)
c.2320G>T (p.Val774Leu)
12g.109783749C>GCA386648611TRPV4c.2488G>C (p.Val830Leu)
c.*1575G>C (n.*1575G>C)
c.2386G>C (p.Val796Leu)
c.2308G>C (p.Val770Leu)
c.*871G>C (n.*871G>C)
c.2347G>C (p.Val783Leu)
c.2167G>C (p.Val723Leu)
c.2641G>C (p.Val881Leu)
c.2500G>C (p.Val834Leu)
c.2461G>C (p.Val821Leu)
c.2320G>C (p.Val774Leu)
12g.109783749C>TCA386648612TRPV4c.2488G>A (p.Val830Met)
c.*1575G>A (n.*1575G>A)
c.2386G>A (p.Val796Met)
c.2308G>A (p.Val770Met)
c.*871G>A (n.*871G>A)
c.2347G>A (p.Val783Met)
c.2167G>A (p.Val723Met)
c.2641G>A (p.Val881Met)
c.2500G>A (p.Val834Met)
c.2461G>A (p.Val821Met)
c.2320G>A (p.Val774Met)
12g.109783750C>ACA481723958TRPV4c.2487G>T (p.Val829=)
c.*1574G>T (n.*1574G>T)
c.2385G>T (p.Val795=)
c.2307G>T (p.Val769=)
c.*870G>T (n.*870G>T)
c.2346G>T (p.Val782=)
c.2166G>T (p.Val722=)
c.2640G>T (p.Val880=)
c.2499G>T (p.Val833=)
c.2460G>T (p.Val820=)
c.2319G>T (p.Val773=)
12g.109783750C>GCA481723959TRPV4c.2487G>C (p.Val829=)
c.*1574G>C (n.*1574G>C)
c.2385G>C (p.Val795=)
c.2307G>C (p.Val769=)
c.*870G>C (n.*870G>C)
c.2346G>C (p.Val782=)
c.2166G>C (p.Val722=)
c.2640G>C (p.Val880=)
c.2499G>C (p.Val833=)
c.2460G>C (p.Val820=)
c.2319G>C (p.Val773=)
12g.109783750C>TCA481723957TRPV4c.2487G>A (p.Val829=)
c.*1574G>A (n.*1574G>A)
c.2385G>A (p.Val795=)
c.2307G>A (p.Val769=)
c.*870G>A (n.*870G>A)
c.2346G>A (p.Val782=)
c.2166G>A (p.Val722=)
c.2640G>A (p.Val880=)
c.2499G>A (p.Val833=)
c.2460G>A (p.Val820=)
c.2319G>A (p.Val773=)
12g.109783751A=CA2062557398TRPV4c.2486T= (p.Val829=)
c.*1573T= (n.*1573T=)
c.2384T= (p.Val795=)
c.2306T= (p.Val769=)
c.*869T= (n.*869T=)
c.2345T= (p.Val782=)
c.2165T= (p.Val722=)
c.2639T= (p.Val880=)
c.2498T= (p.Val833=)
c.2459T= (p.Val820=)
c.2318T= (p.Val773=)
12g.109783751A>CCA386648613TRPV4c.2486T>G (p.Val829Gly)
c.*1573T>G (n.*1573T>G)
c.2384T>G (p.Val795Gly)
c.2306T>G (p.Val769Gly)
c.*869T>G (n.*869T>G)
c.2345T>G (p.Val782Gly)
c.2165T>G (p.Val722Gly)
c.2639T>G (p.Val880Gly)
c.2498T>G (p.Val833Gly)
c.2459T>G (p.Val820Gly)
c.2318T>G (p.Val773Gly)
12g.109783751A>GCA386648614TRPV4c.2486T>C (p.Val829Ala)
c.*1573T>C (n.*1573T>C)
c.2384T>C (p.Val795Ala)
c.2306T>C (p.Val769Ala)
c.*869T>C (n.*869T>C)
c.2345T>C (p.Val782Ala)
c.2165T>C (p.Val722Ala)
c.2639T>C (p.Val880Ala)
c.2498T>C (p.Val833Ala)
c.2459T>C (p.Val820Ala)
c.2318T>C (p.Val773Ala)
12g.109783751A>TCA386648615TRPV4c.2486T>A (p.Val829Glu)
c.*1573T>A (n.*1573T>A)
c.2384T>A (p.Val795Glu)
c.2306T>A (p.Val769Glu)
c.*869T>A (n.*869T>A)
c.2345T>A (p.Val782Glu)
c.2165T>A (p.Val722Glu)
c.2639T>A (p.Val880Glu)
c.2498T>A (p.Val833Glu)
c.2459T>A (p.Val820Glu)
c.2318T>A (p.Val773Glu)
 dbSNP
12g.[109783751A>T;109783754_109783757del]CA658682643TRPV4c.[2481_2484del;2486T>A] (p.Val829TrpfsTer3)
c.[*1568_*1571del;*1573T>A] (n.[*1568_*1571del;*1573T>A])
c.[2379_2382del;2384T>A] (p.Val795TrpfsTer3)
c.[2301_2304del;2306T>A] (p.Val769TrpfsTer3)
c.[*864_*867del;*869T>A] (n.[*864_*867del;*869T>A])
c.[2340_2343del;2345T>A] (p.Val782TrpfsTer3)
c.[2160_2163del;2165T>A] (p.Val722TrpfsTer3)
c.[2634_2637del;2639T>A] (p.Val880TrpfsTer3)
c.[2493_2496del;2498T>A] (p.Val833TrpfsTer3)
c.[2454_2457del;2459T>A] (p.Val820TrpfsTer3)
c.[2313_2316del;2318T>A] (p.Val773TrpfsTer3)
 ClinVar
12g.109783751_109783757delinsTCA2695217256TRPV4c.2480_2486delinsA (p.Pro827_Val829delinsGln)
c.*1567_*1573delinsA (n.*1567_*1573delinsA)
c.2378_2384delinsA (p.Pro793_Val795delinsGln)
c.2300_2306delinsA (p.Pro767_Val769delinsGln)
c.*863_*869delinsA (n.*863_*869delinsA)
c.2339_2345delinsA (p.Pro780_Val782delinsGln)
c.2159_2165delinsA (p.Pro720_Val722delinsGln)
c.2633_2639delinsA (p.Pro878_Val880delinsGln)
c.2492_2498delinsA (p.Pro831_Val833delinsGln)
c.2453_2459delinsA (p.Pro818_Val820delinsGln)
c.2312_2318delinsA (p.Pro771_Val773delinsGln)
12g.109783752C>ACA386648616TRPV4c.2485G>T (p.Val829Leu)
c.*1572G>T (n.*1572G>T)
c.2383G>T (p.Val795Leu)
c.2305G>T (p.Val769Leu)
c.*868G>T (n.*868G>T)
c.2344G>T (p.Val782Leu)
c.2164G>T (p.Val722Leu)
c.2638G>T (p.Val880Leu)
c.2497G>T (p.Val833Leu)
c.2458G>T (p.Val820Leu)
c.2317G>T (p.Val773Leu)
12g.109783752C=CA2062557399TRPV4c.2485G= (p.Val829=)
c.*1572G= (n.*1572G=)
c.2383G= (p.Val795=)
c.2305G= (p.Val769=)
c.*868G= (n.*868G=)
c.2344G= (p.Val782=)
c.2164G= (p.Val722=)
c.2638G= (p.Val880=)
c.2497G= (p.Val833=)
c.2458G= (p.Val820=)
c.2317G= (p.Val773=)
12g.109783752C>GCA386648617TRPV4c.2485G>C (p.Val829Leu)
c.*1572G>C (n.*1572G>C)
c.2383G>C (p.Val795Leu)
c.2305G>C (p.Val769Leu)
c.*868G>C (n.*868G>C)
c.2344G>C (p.Val782Leu)
c.2164G>C (p.Val722Leu)
c.2638G>C (p.Val880Leu)
c.2497G>C (p.Val833Leu)
c.2458G>C (p.Val820Leu)
c.2317G>C (p.Val773Leu)
 ClinVar gnomAD v4
12g.109783752C>TCA6779876TRPV4c.2485G>A (p.Val829Met)
c.*1572G>A (n.*1572G>A)
c.2383G>A (p.Val795Met)
c.2305G>A (p.Val769Met)
c.*868G>A (n.*868G>A)
c.2344G>A (p.Val782Met)
c.2164G>A (p.Val722Met)
c.2638G>A (p.Val880Met)
c.2497G>A (p.Val833Met)
c.2458G>A (p.Val820Met)
c.2317G>A (p.Val773Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.109783752_109783756delinsCGCGGCA2062557400TRPV4c.2481_2485delinsCCGCG (p.Pro827=)
c.*1568_*1572delinsCCGCG (n.*1568_*1572delinsCCGCG)
c.2379_2383delinsCCGCG (p.Pro793=)
c.2301_2305delinsCCGCG (p.Pro767=)
c.*864_*868delinsCCGCG (n.*864_*868delinsCCGCG)
c.2340_2344delinsCCGCG (p.Pro780=)
c.2160_2164delinsCCGCG (p.Pro720=)
c.2634_2638delinsCCGCG (p.Pro878=)
c.2493_2497delinsCCGCG (p.Pro831=)
c.2454_2458delinsCCGCG (p.Pro818=)
c.2313_2317delinsCCGCG (p.Pro771=)
12g.109783753G>ACA6779877TRPV4c.2484C>T (p.Arg828=)
c.*1571C>T (n.*1571C>T)
c.2382C>T (p.Arg794=)
c.2304C>T (p.Arg768=)
c.*867C>T (n.*867C>T)
c.2343C>T (p.Arg781=)
c.2163C>T (p.Arg721=)
c.2637C>T (p.Arg879=)
c.2496C>T (p.Arg832=)
c.2457C>T (p.Arg819=)
c.2316C>T (p.Arg772=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109783753G>CCA481723960TRPV4c.2484C>G (p.Arg828=)
c.*1571C>G (n.*1571C>G)
c.2382C>G (p.Arg794=)
c.2304C>G (p.Arg768=)
c.*867C>G (n.*867C>G)
c.2343C>G (p.Arg781=)
c.2163C>G (p.Arg721=)
c.2637C>G (p.Arg879=)
c.2496C>G (p.Arg832=)
c.2457C>G (p.Arg819=)
c.2316C>G (p.Arg772=)
12g.109783753G=CA2062557401TRPV4c.2484C= (p.Arg828=)
c.*1571C= (n.*1571C=)
c.2382C= (p.Arg794=)
c.2304C= (p.Arg768=)
c.*867C= (n.*867C=)
c.2343C= (p.Arg781=)
c.2163C= (p.Arg721=)
c.2637C= (p.Arg879=)
c.2496C= (p.Arg832=)
c.2457C= (p.Arg819=)
c.2316C= (p.Arg772=)
12g.109783753G>TCA481723961TRPV4c.2484C>A (p.Arg828=)
c.*1571C>A (n.*1571C>A)
c.2382C>A (p.Arg794=)
c.2304C>A (p.Arg768=)
c.*867C>A (n.*867C>A)
c.2343C>A (p.Arg781=)
c.2163C>A (p.Arg721=)
c.2637C>A (p.Arg879=)
c.2496C>A (p.Arg832=)
c.2457C>A (p.Arg819=)
c.2316C>A (p.Arg772=)
12g.109783754_109783757delCA658656313TRPV4c.2481_2484del (p.Arg828TrpfsTer4)
c.*1568_*1571del (n.*1568_*1571del)
c.2379_2382del (p.Arg794TrpfsTer4)
c.2301_2304del (p.Arg768TrpfsTer4)
c.*864_*867del (n.*864_*867del)
c.2340_2343del (p.Arg781TrpfsTer4)
c.2160_2163del (p.Arg721TrpfsTer4)
c.2634_2637del (p.Arg879TrpfsTer4)
c.2493_2496del (p.Arg832TrpfsTer4)
c.2454_2457del (p.Arg819TrpfsTer4)
c.2313_2316del (p.Arg772TrpfsTer4)
 dbSNP
12g.109783754C>ACA386648618TRPV4c.2483G>T (p.Arg828Leu)
c.*1570G>T (n.*1570G>T)
c.2381G>T (p.Arg794Leu)
c.2303G>T (p.Arg768Leu)
c.*866G>T (n.*866G>T)
c.2342G>T (p.Arg781Leu)
c.2162G>T (p.Arg721Leu)
c.2636G>T (p.Arg879Leu)
c.2495G>T (p.Arg832Leu)
c.2456G>T (p.Arg819Leu)
c.2315G>T (p.Arg772Leu)
12g.109783754C=CA2062557402TRPV4c.2483G= (p.Arg828=)
c.*1570G= (n.*1570G=)
c.2381G= (p.Arg794=)
c.2303G= (p.Arg768=)
c.*866G= (n.*866G=)
c.2342G= (p.Arg781=)
c.2162G= (p.Arg721=)
c.2636G= (p.Arg879=)
c.2495G= (p.Arg832=)
c.2456G= (p.Arg819=)
c.2315G= (p.Arg772=)
12g.109783754C>GCA386648619TRPV4c.2483G>C (p.Arg828Pro)
c.*1570G>C (n.*1570G>C)
c.2381G>C (p.Arg794Pro)
c.2303G>C (p.Arg768Pro)
c.*866G>C (n.*866G>C)
c.2342G>C (p.Arg781Pro)
c.2162G>C (p.Arg721Pro)
c.2636G>C (p.Arg879Pro)
c.2495G>C (p.Arg832Pro)
c.2456G>C (p.Arg819Pro)
c.2315G>C (p.Arg772Pro)
12g.109783754C>TCA6779878TRPV4c.2483G>A (p.Arg828His)
c.*1570G>A (n.*1570G>A)
c.2381G>A (p.Arg794His)
c.2303G>A (p.Arg768His)
c.*866G>A (n.*866G>A)
c.2342G>A (p.Arg781His)
c.2162G>A (p.Arg721His)
c.2636G>A (p.Arg879His)
c.2495G>A (p.Arg832His)
c.2456G>A (p.Arg819His)
c.2315G>A (p.Arg772His)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.109783755G>ACA386648620TRPV4c.2482C>T (p.Arg828Cys)
c.*1569C>T (n.*1569C>T)
c.2380C>T (p.Arg794Cys)
c.2302C>T (p.Arg768Cys)
c.*865C>T (n.*865C>T)
c.2341C>T (p.Arg781Cys)
c.2161C>T (p.Arg721Cys)
c.2635C>T (p.Arg879Cys)
c.2494C>T (p.Arg832Cys)
c.2455C>T (p.Arg819Cys)
c.2314C>T (p.Arg772Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109783755G>CCA386648621TRPV4c.2482C>G (p.Arg828Gly)
c.*1569C>G (n.*1569C>G)
c.2380C>G (p.Arg794Gly)
c.2302C>G (p.Arg768Gly)
c.*865C>G (n.*865C>G)
c.2341C>G (p.Arg781Gly)
c.2161C>G (p.Arg721Gly)
c.2635C>G (p.Arg879Gly)
c.2494C>G (p.Arg832Gly)
c.2455C>G (p.Arg819Gly)
c.2314C>G (p.Arg772Gly)
12g.109783755G=CA2062557403TRPV4c.2482C= (p.Arg828=)
c.*1569C= (n.*1569C=)
c.2380C= (p.Arg794=)
c.2302C= (p.Arg768=)
c.*865C= (n.*865C=)
c.2341C= (p.Arg781=)
c.2161C= (p.Arg721=)
c.2635C= (p.Arg879=)
c.2494C= (p.Arg832=)
c.2455C= (p.Arg819=)
c.2314C= (p.Arg772=)
12g.109783755G>TCA386648622TRPV4c.2482C>A (p.Arg828Ser)
c.*1569C>A (n.*1569C>A)
c.2380C>A (p.Arg794Ser)
c.2302C>A (p.Arg768Ser)
c.*865C>A (n.*865C>A)
c.2341C>A (p.Arg781Ser)
c.2161C>A (p.Arg721Ser)
c.2635C>A (p.Arg879Ser)
c.2494C>A (p.Arg832Ser)
c.2455C>A (p.Arg819Ser)
c.2314C>A (p.Arg772Ser)
 ClinVar dbSNP gnomAD v4
12g.109783756G>ACA6779879TRPV4c.2481C>T (p.Pro827=)
c.*1568C>T (n.*1568C>T)
c.2379C>T (p.Pro793=)
c.2301C>T (p.Pro767=)
c.*864C>T (n.*864C>T)
c.2340C>T (p.Pro780=)
c.2160C>T (p.Pro720=)
c.2634C>T (p.Pro878=)
c.2493C>T (p.Pro831=)
c.2454C>T (p.Pro818=)
c.2313C>T (p.Pro771=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.109783756G>CCA481723963TRPV4c.2481C>G (p.Pro827=)
c.*1568C>G (n.*1568C>G)
c.2379C>G (p.Pro793=)
c.2301C>G (p.Pro767=)
c.*864C>G (n.*864C>G)
c.2340C>G (p.Pro780=)
c.2160C>G (p.Pro720=)
c.2634C>G (p.Pro878=)
c.2493C>G (p.Pro831=)
c.2454C>G (p.Pro818=)
c.2313C>G (p.Pro771=)
12g.109783756G=CA2062557404TRPV4c.2481C= (p.Pro827=)
c.*1568C= (n.*1568C=)
c.2379C= (p.Pro793=)
c.2301C= (p.Pro767=)
c.*864C= (n.*864C=)
c.2340C= (p.Pro780=)
c.2160C= (p.Pro720=)
c.2634C= (p.Pro878=)
c.2493C= (p.Pro831=)
c.2454C= (p.Pro818=)
c.2313C= (p.Pro771=)
12g.109783756G>TCA481723962TRPV4c.2481C>A (p.Pro827=)
c.*1568C>A (n.*1568C>A)
c.2379C>A (p.Pro793=)
c.2301C>A (p.Pro767=)
c.*864C>A (n.*864C>A)
c.2340C>A (p.Pro780=)
c.2160C>A (p.Pro720=)
c.2634C>A (p.Pro878=)
c.2493C>A (p.Pro831=)
c.2454C>A (p.Pro818=)
c.2313C>A (p.Pro771=)
12g.109783757G>ACA386648623TRPV4c.2480C>T (p.Pro827Leu)
c.*1567C>T (n.*1567C>T)
c.2378C>T (p.Pro793Leu)
c.2300C>T (p.Pro767Leu)
c.*863C>T (n.*863C>T)
c.2339C>T (p.Pro780Leu)
c.2159C>T (p.Pro720Leu)
c.2633C>T (p.Pro878Leu)
c.2492C>T (p.Pro831Leu)
c.2453C>T (p.Pro818Leu)
c.2312C>T (p.Pro771Leu)
12g.109783757G>CCA386648624TRPV4c.2480C>G (p.Pro827Arg)
c.*1567C>G (n.*1567C>G)
c.2378C>G (p.Pro793Arg)
c.2300C>G (p.Pro767Arg)
c.*863C>G (n.*863C>G)
c.2339C>G (p.Pro780Arg)
c.2159C>G (p.Pro720Arg)
c.2633C>G (p.Pro878Arg)
c.2492C>G (p.Pro831Arg)
c.2453C>G (p.Pro818Arg)
c.2312C>G (p.Pro771Arg)
12g.109783757G>TCA386648625TRPV4c.2480C>A (p.Pro827His)
c.*1567C>A (n.*1567C>A)
c.2378C>A (p.Pro793His)
c.2300C>A (p.Pro767His)
c.*863C>A (n.*863C>A)
c.2339C>A (p.Pro780His)
c.2159C>A (p.Pro720His)
c.2633C>A (p.Pro878His)
c.2492C>A (p.Pro831His)
c.2453C>A (p.Pro818His)
c.2312C>A (p.Pro771His)
 ClinVar dbSNP
12g.109783758G>ACA386648626TRPV4c.2479C>T (p.Pro827Ser)
c.*1566C>T (n.*1566C>T)
c.2377C>T (p.Pro793Ser)
c.2299C>T (p.Pro767Ser)
c.*862C>T (n.*862C>T)
c.2338C>T (p.Pro780Ser)
c.2158C>T (p.Pro720Ser)
c.2632C>T (p.Pro878Ser)
c.2491C>T (p.Pro831Ser)
c.2452C>T (p.Pro818Ser)
c.2311C>T (p.Pro771Ser)
12g.109783758G>CCA386648627TRPV4c.2479C>G (p.Pro827Ala)
c.*1566C>G (n.*1566C>G)
c.2377C>G (p.Pro793Ala)
c.2299C>G (p.Pro767Ala)
c.*862C>G (n.*862C>G)
c.2338C>G (p.Pro780Ala)
c.2158C>G (p.Pro720Ala)
c.2632C>G (p.Pro878Ala)
c.2491C>G (p.Pro831Ala)
c.2452C>G (p.Pro818Ala)
c.2311C>G (p.Pro771Ala)
 ClinVar dbSNP
12g.109783758G=CA2062557405TRPV4c.2479C= (p.Pro827=)
c.*1566C= (n.*1566C=)
c.2377C= (p.Pro793=)
c.2299C= (p.Pro767=)
c.*862C= (n.*862C=)
c.2338C= (p.Pro780=)
c.2158C= (p.Pro720=)
c.2632C= (p.Pro878=)
c.2491C= (p.Pro831=)
c.2452C= (p.Pro818=)
c.2311C= (p.Pro771=)
12g.109783758G>TCA386648628TRPV4c.2479C>A (p.Pro827Thr)
c.*1566C>A (n.*1566C>A)
c.2377C>A (p.Pro793Thr)
c.2299C>A (p.Pro767Thr)
c.*862C>A (n.*862C>A)
c.2338C>A (p.Pro780Thr)
c.2158C>A (p.Pro720Thr)
c.2632C>A (p.Pro878Thr)
c.2491C>A (p.Pro831Thr)
c.2452C>A (p.Pro818Thr)
c.2311C>A (p.Pro771Thr)
12g.109783759T>ACA481723964TRPV4c.2478A>T (p.Val826=)
c.*1565A>T (n.*1565A>T)
c.2376A>T (p.Val792=)
c.2298A>T (p.Val766=)
c.*861A>T (n.*861A>T)
c.2337A>T (p.Val779=)
c.2157A>T (p.Val719=)
c.2631A>T (p.Val877=)
c.2490A>T (p.Val830=)
c.2451A>T (p.Val817=)
c.2310A>T (p.Val770=)
12g.109783759T>CCA481723965TRPV4c.2478A>G (p.Val826=)
c.*1565A>G (n.*1565A>G)
c.2376A>G (p.Val792=)
c.2298A>G (p.Val766=)
c.*861A>G (n.*861A>G)
c.2337A>G (p.Val779=)
c.2157A>G (p.Val719=)
c.2631A>G (p.Val877=)
c.2490A>G (p.Val830=)
c.2451A>G (p.Val817=)
c.2310A>G (p.Val770=)
12g.109783759T>GCA481723966TRPV4c.2478A>C (p.Val826=)
c.*1565A>C (n.*1565A>C)
c.2376A>C (p.Val792=)
c.2298A>C (p.Val766=)
c.*861A>C (n.*861A>C)
c.2337A>C (p.Val779=)
c.2157A>C (p.Val719=)
c.2631A>C (p.Val877=)
c.2490A>C (p.Val830=)
c.2451A>C (p.Val817=)
c.2310A>C (p.Val770=)
12g.109783760A>CCA386648630TRPV4c.2477T>G (p.Val826Gly)
c.*1564T>G (n.*1564T>G)
c.2375T>G (p.Val792Gly)
c.2297T>G (p.Val766Gly)
c.*860T>G (n.*860T>G)
c.2336T>G (p.Val779Gly)
c.2156T>G (p.Val719Gly)
c.2630T>G (p.Val877Gly)
c.2489T>G (p.Val830Gly)
c.2450T>G (p.Val817Gly)
c.2309T>G (p.Val770Gly)
12g.109783760A>GCA386648631TRPV4c.2477T>C (p.Val826Ala)
c.*1564T>C (n.*1564T>C)
c.2375T>C (p.Val792Ala)
c.2297T>C (p.Val766Ala)
c.*860T>C (n.*860T>C)
c.2336T>C (p.Val779Ala)
c.2156T>C (p.Val719Ala)
c.2630T>C (p.Val877Ala)
c.2489T>C (p.Val830Ala)
c.2450T>C (p.Val817Ala)
c.2309T>C (p.Val770Ala)
12g.109783760A>TCA386648629TRPV4c.2477T>A (p.Val826Glu)
c.*1564T>A (n.*1564T>A)
c.2375T>A (p.Val792Glu)
c.2297T>A (p.Val766Glu)
c.*860T>A (n.*860T>A)
c.2336T>A (p.Val779Glu)
c.2156T>A (p.Val719Glu)
c.2630T>A (p.Val877Glu)
c.2489T>A (p.Val830Glu)
c.2450T>A (p.Val817Glu)
c.2309T>A (p.Val770Glu)
12g.109783761C>ACA386648634TRPV4c.2476G>T (p.Val826Leu)
c.*1563G>T (n.*1563G>T)
c.2374G>T (p.Val792Leu)
c.2296G>T (p.Val766Leu)
c.*859G>T (n.*859G>T)
c.2335G>T (p.Val779Leu)
c.2155G>T (p.Val719Leu)
c.2629G>T (p.Val877Leu)
c.2488G>T (p.Val830Leu)
c.2449G>T (p.Val817Leu)
c.2308G>T (p.Val770Leu)
12g.109783761C>GCA386648632TRPV4c.2476G>C (p.Val826Leu)
c.*1563G>C (n.*1563G>C)
c.2374G>C (p.Val792Leu)
c.2296G>C (p.Val766Leu)
c.*859G>C (n.*859G>C)
c.2335G>C (p.Val779Leu)
c.2155G>C (p.Val719Leu)
c.2629G>C (p.Val877Leu)
c.2488G>C (p.Val830Leu)
c.2449G>C (p.Val817Leu)
c.2308G>C (p.Val770Leu)
12g.109783761C>TCA386648633TRPV4c.2476G>A (p.Val826Ile)
c.*1563G>A (n.*1563G>A)
c.2374G>A (p.Val792Ile)
c.2296G>A (p.Val766Ile)
c.*859G>A (n.*859G>A)
c.2335G>A (p.Val779Ile)
c.2155G>A (p.Val719Ile)
c.2629G>A (p.Val877Ile)
c.2488G>A (p.Val830Ile)
c.2449G>A (p.Val817Ile)
c.2308G>A (p.Val770Ile)
 gnomAD v4
12g.109783762delCA2620825466TRPV4c.2476del (p.Val826TyrfsTer7)
c.*1563del (n.*1563del)
c.2374del (p.Val792TyrfsTer7)
c.2296del (p.Val766TyrfsTer7)
c.*859del (n.*859del)
c.2335del (p.Val779TyrfsTer7)
c.2155del (p.Val719TyrfsTer7)
c.2629del (p.Val877TyrfsTer7)
c.2488del (p.Val830TyrfsTer7)
c.2449del (p.Val817TyrfsTer7)
c.2308del (p.Val770TyrfsTer7)
 gnomAD v4

Number of alleles fetched