Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.109784385C>ACA386648826TRPV4c.2389G>T (p.Glu797Ter)
c.*1476G>T (n.*1476G>T)
c.2287G>T (p.Glu763Ter)
c.2209G>T (p.Glu737Ter)
c.*772G>T (n.*772G>T)
c.2248G>T (p.Glu750Ter)
c.2068G>T (p.Glu690Ter)
c.2542G>T (p.Glu848Ter)
c.2401G>T (p.Glu801Ter)
c.2362G>T (p.Glu788Ter)
c.2221G>T (p.Glu741Ter)
12g.109784385C=CA2062557952TRPV4c.2389G= (p.Glu797=)
c.*1476G= (n.*1476G=)
c.2287G= (p.Glu763=)
c.2209G= (p.Glu737=)
c.*772G= (n.*772G=)
c.2248G= (p.Glu750=)
c.2068G= (p.Glu690=)
c.2542G= (p.Glu848=)
c.2401G= (p.Glu801=)
c.2362G= (p.Glu788=)
c.2221G= (p.Glu741=)
12g.109784385C>GCA386648827TRPV4c.2389G>C (p.Glu797Gln)
c.*1476G>C (n.*1476G>C)
c.2287G>C (p.Glu763Gln)
c.2209G>C (p.Glu737Gln)
c.*772G>C (n.*772G>C)
c.2248G>C (p.Glu750Gln)
c.2068G>C (p.Glu690Gln)
c.2542G>C (p.Glu848Gln)
c.2401G>C (p.Glu801Gln)
c.2362G>C (p.Glu788Gln)
c.2221G>C (p.Glu741Gln)
12g.109784385C>TCA117195TRPV4c.2389G>A (p.Glu797Lys)
c.*1476G>A (n.*1476G>A)
c.2287G>A (p.Glu763Lys)
c.2209G>A (p.Glu737Lys)
c.*772G>A (n.*772G>A)
c.2248G>A (p.Glu750Lys)
c.2068G>A (p.Glu690Lys)
c.2542G>A (p.Glu848Lys)
c.2401G>A (p.Glu801Lys)
c.2362G>A (p.Glu788Lys)
c.2221G>A (p.Glu741Lys)
 ClinVar dbSNP
12g.109784385_109784388delinsCGTTCA2062557954TRPV4c.2386_2389delinsAACG (p.Asn796=)
c.*1473_*1476delinsAACG (n.*1473_*1476delinsAACG)
c.2284_2287delinsAACG (p.Asn762=)
c.2206_2209delinsAACG (p.Asn736=)
c.*769_*772delinsAACG (n.*769_*772delinsAACG)
c.2245_2248delinsAACG (p.Asn749=)
c.2065_2068delinsAACG (p.Asn689=)
c.2539_2542delinsAACG (p.Asn847=)
c.2398_2401delinsAACG (p.Asn800=)
c.2359_2362delinsAACG (p.Asn787=)
c.2218_2221delinsAACG (p.Asn740=)
12g.109784386G>ACA6779937TRPV4c.2388C>T (p.Asn796=)
c.*1475C>T (n.*1475C>T)
c.2286C>T (p.Asn762=)
c.2208C>T (p.Asn736=)
c.*771C>T (n.*771C>T)
c.2247C>T (p.Asn749=)
c.2067C>T (p.Asn689=)
c.2541C>T (p.Asn847=)
c.2400C>T (p.Asn800=)
c.2361C>T (p.Asn787=)
c.2220C>T (p.Asn740=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784386G>CCA386648828TRPV4c.2388C>G (p.Asn796Lys)
c.*1475C>G (n.*1475C>G)
c.2286C>G (p.Asn762Lys)
c.2208C>G (p.Asn736Lys)
c.*771C>G (n.*771C>G)
c.2247C>G (p.Asn749Lys)
c.2067C>G (p.Asn689Lys)
c.2541C>G (p.Asn847Lys)
c.2400C>G (p.Asn800Lys)
c.2361C>G (p.Asn787Lys)
c.2220C>G (p.Asn740Lys)
 gnomAD v4
12g.109784386G=CA2062557956TRPV4c.2388C= (p.Asn796=)
c.*1475C= (n.*1475C=)
c.2286C= (p.Asn762=)
c.2208C= (p.Asn736=)
c.*771C= (n.*771C=)
c.2247C= (p.Asn749=)
c.2067C= (p.Asn689=)
c.2541C= (p.Asn847=)
c.2400C= (p.Asn800=)
c.2361C= (p.Asn787=)
c.2220C= (p.Asn740=)
12g.109784386G>TCA386648829TRPV4c.2388C>A (p.Asn796Lys)
c.*1475C>A (n.*1475C>A)
c.2286C>A (p.Asn762Lys)
c.2208C>A (p.Asn736Lys)
c.*771C>A (n.*771C>A)
c.2247C>A (p.Asn749Lys)
c.2067C>A (p.Asn689Lys)
c.2541C>A (p.Asn847Lys)
c.2400C>A (p.Asn800Lys)
c.2361C>A (p.Asn787Lys)
c.2220C>A (p.Asn740Lys)
12g.109784387_109784389delCA2062557957TRPV4c.2386_2388del (p.Asn796del)
c.*1473_*1475del (n.*1473_*1475del)
c.2284_2286del (p.Asn762del)
c.2206_2208del (p.Asn736del)
c.*769_*771del (n.*769_*771del)
c.2245_2247del (p.Asn749del)
c.2065_2067del (p.Asn689del)
c.2539_2541del (p.Asn847del)
c.2398_2400del (p.Asn800del)
c.2359_2361del (p.Asn787del)
c.2218_2220del (p.Asn740del)
 ClinVar dbSNP
12g.109784387T>ACA386648830TRPV4c.2387A>T (p.Asn796Ile)
c.*1474A>T (n.*1474A>T)
c.2285A>T (p.Asn762Ile)
c.2207A>T (p.Asn736Ile)
c.*770A>T (n.*770A>T)
c.2246A>T (p.Asn749Ile)
c.2066A>T (p.Asn689Ile)
c.2540A>T (p.Asn847Ile)
c.2399A>T (p.Asn800Ile)
c.2360A>T (p.Asn787Ile)
c.2219A>T (p.Asn740Ile)
 ClinVar dbSNP
12g.109784387T>CCA386648831TRPV4c.2387A>G (p.Asn796Ser)
c.*1474A>G (n.*1474A>G)
c.2285A>G (p.Asn762Ser)
c.2207A>G (p.Asn736Ser)
c.*770A>G (n.*770A>G)
c.2246A>G (p.Asn749Ser)
c.2066A>G (p.Asn689Ser)
c.2540A>G (p.Asn847Ser)
c.2399A>G (p.Asn800Ser)
c.2360A>G (p.Asn787Ser)
c.2219A>G (p.Asn740Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.109784387T>GCA386648832TRPV4c.2387A>C (p.Asn796Thr)
c.*1474A>C (n.*1474A>C)
c.2285A>C (p.Asn762Thr)
c.2207A>C (p.Asn736Thr)
c.*770A>C (n.*770A>C)
c.2246A>C (p.Asn749Thr)
c.2066A>C (p.Asn689Thr)
c.2540A>C (p.Asn847Thr)
c.2399A>C (p.Asn800Thr)
c.2360A>C (p.Asn787Thr)
c.2219A>C (p.Asn740Thr)
12g.109784387T=CA2062557959TRPV4c.2387A= (p.Asn796=)
c.*1474A= (n.*1474A=)
c.2285A= (p.Asn762=)
c.2207A= (p.Asn736=)
c.*770A= (n.*770A=)
c.2246A= (p.Asn749=)
c.2066A= (p.Asn689=)
c.2540A= (p.Asn847=)
c.2399A= (p.Asn800=)
c.2360A= (p.Asn787=)
c.2219A= (p.Asn740=)
12g.109784388T>ACA386648833TRPV4c.2386A>T (p.Asn796Tyr)
c.*1473A>T (n.*1473A>T)
c.2284A>T (p.Asn762Tyr)
c.2206A>T (p.Asn736Tyr)
c.*769A>T (n.*769A>T)
c.2245A>T (p.Asn749Tyr)
c.2065A>T (p.Asn689Tyr)
c.2539A>T (p.Asn847Tyr)
c.2398A>T (p.Asn800Tyr)
c.2359A>T (p.Asn787Tyr)
c.2218A>T (p.Asn740Tyr)
12g.109784388T>CCA386648834TRPV4c.2386A>G (p.Asn796Asp)
c.*1473A>G (n.*1473A>G)
c.2284A>G (p.Asn762Asp)
c.2206A>G (p.Asn736Asp)
c.*769A>G (n.*769A>G)
c.2245A>G (p.Asn749Asp)
c.2065A>G (p.Asn689Asp)
c.2539A>G (p.Asn847Asp)
c.2398A>G (p.Asn800Asp)
c.2359A>G (p.Asn787Asp)
c.2218A>G (p.Asn740Asp)
12g.109784388T>GCA386648835TRPV4c.2386A>C (p.Asn796His)
c.*1473A>C (n.*1473A>C)
c.2284A>C (p.Asn762His)
c.2206A>C (p.Asn736His)
c.*769A>C (n.*769A>C)
c.2245A>C (p.Asn749His)
c.2065A>C (p.Asn689His)
c.2539A>C (p.Asn847His)
c.2398A>C (p.Asn800His)
c.2359A>C (p.Asn787His)
c.2218A>C (p.Asn740His)
12g.109784389G>ACA6779938TRPV4c.2385C>T (p.Ile795=)
c.*1472C>T (n.*1472C>T)
c.2283C>T (p.Ile761=)
c.2205C>T (p.Ile735=)
c.*768C>T (n.*768C>T)
c.2244C>T (p.Ile748=)
c.2064C>T (p.Ile688=)
c.2538C>T (p.Ile846=)
c.2397C>T (p.Ile799=)
c.2358C>T (p.Ile786=)
c.2217C>T (p.Ile739=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784389G>CCA386648836TRPV4c.2385C>G (p.Ile795Met)
c.*1472C>G (n.*1472C>G)
c.2283C>G (p.Ile761Met)
c.2205C>G (p.Ile735Met)
c.*768C>G (n.*768C>G)
c.2244C>G (p.Ile748Met)
c.2064C>G (p.Ile688Met)
c.2538C>G (p.Ile846Met)
c.2397C>G (p.Ile799Met)
c.2358C>G (p.Ile786Met)
c.2217C>G (p.Ile739Met)
12g.109784389G=CA2062557961TRPV4c.2385C= (p.Ile795=)
c.*1472C= (n.*1472C=)
c.2283C= (p.Ile761=)
c.2205C= (p.Ile735=)
c.*768C= (n.*768C=)
c.2244C= (p.Ile748=)
c.2064C= (p.Ile688=)
c.2538C= (p.Ile846=)
c.2397C= (p.Ile799=)
c.2358C= (p.Ile786=)
c.2217C= (p.Ile739=)
12g.109784389G>TCA481724039TRPV4c.2385C>A (p.Ile795=)
c.*1472C>A (n.*1472C>A)
c.2283C>A (p.Ile761=)
c.2205C>A (p.Ile735=)
c.*768C>A (n.*768C>A)
c.2244C>A (p.Ile748=)
c.2064C>A (p.Ile688=)
c.2538C>A (p.Ile846=)
c.2397C>A (p.Ile799=)
c.2358C>A (p.Ile786=)
c.2217C>A (p.Ile739=)
12g.109784390A>CCA386648839TRPV4c.2384T>G (p.Ile795Ser)
c.*1471T>G (n.*1471T>G)
c.2282T>G (p.Ile761Ser)
c.2204T>G (p.Ile735Ser)
c.*767T>G (n.*767T>G)
c.2243T>G (p.Ile748Ser)
c.2063T>G (p.Ile688Ser)
c.2537T>G (p.Ile846Ser)
c.2396T>G (p.Ile799Ser)
c.2357T>G (p.Ile786Ser)
c.2216T>G (p.Ile739Ser)
12g.109784390A>GCA386648838TRPV4c.2384T>C (p.Ile795Thr)
c.*1471T>C (n.*1471T>C)
c.2282T>C (p.Ile761Thr)
c.2204T>C (p.Ile735Thr)
c.*767T>C (n.*767T>C)
c.2243T>C (p.Ile748Thr)
c.2063T>C (p.Ile688Thr)
c.2537T>C (p.Ile846Thr)
c.2396T>C (p.Ile799Thr)
c.2357T>C (p.Ile786Thr)
c.2216T>C (p.Ile739Thr)
12g.109784390A>TCA386648837TRPV4c.2384T>A (p.Ile795Asn)
c.*1471T>A (n.*1471T>A)
c.2282T>A (p.Ile761Asn)
c.2204T>A (p.Ile735Asn)
c.*767T>A (n.*767T>A)
c.2243T>A (p.Ile748Asn)
c.2063T>A (p.Ile688Asn)
c.2537T>A (p.Ile846Asn)
c.2396T>A (p.Ile799Asn)
c.2357T>A (p.Ile786Asn)
c.2216T>A (p.Ile739Asn)
12g.109784391T>ACA386648840TRPV4c.2383A>T (p.Ile795Phe)
c.*1470A>T (n.*1470A>T)
c.2281A>T (p.Ile761Phe)
c.2203A>T (p.Ile735Phe)
c.*766A>T (n.*766A>T)
c.2242A>T (p.Ile748Phe)
c.2062A>T (p.Ile688Phe)
c.2536A>T (p.Ile846Phe)
c.2395A>T (p.Ile799Phe)
c.2356A>T (p.Ile786Phe)
c.2215A>T (p.Ile739Phe)
12g.109784391T>CCA386648841TRPV4c.2383A>G (p.Ile795Val)
c.*1470A>G (n.*1470A>G)
c.2281A>G (p.Ile761Val)
c.2203A>G (p.Ile735Val)
c.*766A>G (n.*766A>G)
c.2242A>G (p.Ile748Val)
c.2062A>G (p.Ile688Val)
c.2536A>G (p.Ile846Val)
c.2395A>G (p.Ile799Val)
c.2356A>G (p.Ile786Val)
c.2215A>G (p.Ile739Val)
12g.109784391T>GCA386648842TRPV4c.2383A>C (p.Ile795Leu)
c.*1470A>C (n.*1470A>C)
c.2281A>C (p.Ile761Leu)
c.2203A>C (p.Ile735Leu)
c.*766A>C (n.*766A>C)
c.2242A>C (p.Ile748Leu)
c.2062A>C (p.Ile688Leu)
c.2536A>C (p.Ile846Leu)
c.2395A>C (p.Ile799Leu)
c.2356A>C (p.Ile786Leu)
c.2215A>C (p.Ile739Leu)
12g.109784392G>ACA481724041TRPV4c.2382C>T (p.Ile794=)
c.*1469C>T (n.*1469C>T)
c.2280C>T (p.Ile760=)
c.2202C>T (p.Ile734=)
c.*765C>T (n.*765C>T)
c.2241C>T (p.Ile747=)
c.2061C>T (p.Ile687=)
c.2535C>T (p.Ile845=)
c.2394C>T (p.Ile798=)
c.2355C>T (p.Ile785=)
c.2214C>T (p.Ile738=)
 ClinVar
12g.109784392G>CCA386648843TRPV4c.2382C>G (p.Ile794Met)
c.*1469C>G (n.*1469C>G)
c.2280C>G (p.Ile760Met)
c.2202C>G (p.Ile734Met)
c.*765C>G (n.*765C>G)
c.2241C>G (p.Ile747Met)
c.2061C>G (p.Ile687Met)
c.2535C>G (p.Ile845Met)
c.2394C>G (p.Ile798Met)
c.2355C>G (p.Ile785Met)
c.2214C>G (p.Ile738Met)
12g.109784392G>TCA481724042TRPV4c.2382C>A (p.Ile794=)
c.*1469C>A (n.*1469C>A)
c.2280C>A (p.Ile760=)
c.2202C>A (p.Ile734=)
c.*765C>A (n.*765C>A)
c.2241C>A (p.Ile747=)
c.2061C>A (p.Ile687=)
c.2535C>A (p.Ile845=)
c.2394C>A (p.Ile798=)
c.2355C>A (p.Ile785=)
c.2214C>A (p.Ile738=)
12g.109784393A>CCA386648844TRPV4c.2381T>G (p.Ile794Ser)
c.*1468T>G (n.*1468T>G)
c.2279T>G (p.Ile760Ser)
c.2201T>G (p.Ile734Ser)
c.*764T>G (n.*764T>G)
c.2240T>G (p.Ile747Ser)
c.2060T>G (p.Ile687Ser)
c.2534T>G (p.Ile845Ser)
c.2393T>G (p.Ile798Ser)
c.2354T>G (p.Ile785Ser)
c.2213T>G (p.Ile738Ser)
12g.109784393A>GCA386648845TRPV4c.2381T>C (p.Ile794Thr)
c.*1468T>C (n.*1468T>C)
c.2279T>C (p.Ile760Thr)
c.2201T>C (p.Ile734Thr)
c.*764T>C (n.*764T>C)
c.2240T>C (p.Ile747Thr)
c.2060T>C (p.Ile687Thr)
c.2534T>C (p.Ile845Thr)
c.2393T>C (p.Ile798Thr)
c.2354T>C (p.Ile785Thr)
c.2213T>C (p.Ile738Thr)
12g.109784393A>TCA386648846TRPV4c.2381T>A (p.Ile794Asn)
c.*1468T>A (n.*1468T>A)
c.2279T>A (p.Ile760Asn)
c.2201T>A (p.Ile734Asn)
c.*764T>A (n.*764T>A)
c.2240T>A (p.Ile747Asn)
c.2060T>A (p.Ile687Asn)
c.2534T>A (p.Ile845Asn)
c.2393T>A (p.Ile798Asn)
c.2354T>A (p.Ile785Asn)
c.2213T>A (p.Ile738Asn)
12g.109784394T>ACA386648847TRPV4c.2380A>T (p.Ile794Phe)
c.*1467A>T (n.*1467A>T)
c.2278A>T (p.Ile760Phe)
c.2200A>T (p.Ile734Phe)
c.*763A>T (n.*763A>T)
c.2239A>T (p.Ile747Phe)
c.2059A>T (p.Ile687Phe)
c.2533A>T (p.Ile845Phe)
c.2392A>T (p.Ile798Phe)
c.2353A>T (p.Ile785Phe)
c.2212A>T (p.Ile738Phe)
12g.109784394T>CCA386648848TRPV4c.2380A>G (p.Ile794Val)
c.*1467A>G (n.*1467A>G)
c.2278A>G (p.Ile760Val)
c.2200A>G (p.Ile734Val)
c.*763A>G (n.*763A>G)
c.2239A>G (p.Ile747Val)
c.2059A>G (p.Ile687Val)
c.2533A>G (p.Ile845Val)
c.2392A>G (p.Ile798Val)
c.2353A>G (p.Ile785Val)
c.2212A>G (p.Ile738Val)
12g.109784394T>GCA386648849TRPV4c.2380A>C (p.Ile794Leu)
c.*1467A>C (n.*1467A>C)
c.2278A>C (p.Ile760Leu)
c.2200A>C (p.Ile734Leu)
c.*763A>C (n.*763A>C)
c.2239A>C (p.Ile747Leu)
c.2059A>C (p.Ile687Leu)
c.2533A>C (p.Ile845Leu)
c.2392A>C (p.Ile798Leu)
c.2353A>C (p.Ile785Leu)
c.2212A>C (p.Ile738Leu)
12g.109784394_109784395delinsTGCA2062557963TRPV4c.2379_2380delinsCA (p.Gly793=)
c.*1466_*1467delinsCA (n.*1466_*1467delinsCA)
c.2277_2278delinsCA (p.Gly759=)
c.2199_2200delinsCA (p.Gly733=)
c.*762_*763delinsCA (n.*762_*763delinsCA)
c.2238_2239delinsCA (p.Gly746=)
c.2058_2059delinsCA (p.Gly686=)
c.2532_2533delinsCA (p.Gly844=)
c.2391_2392delinsCA (p.Gly797=)
c.2352_2353delinsCA (p.Gly784=)
c.2211_2212delinsCA (p.Gly737=)
12g.109784395delCA2062557964TRPV4c.2379del (p.Ile794SerfsTer?)
c.*1466del (n.*1466del)
c.2277del (p.Ile760SerfsTer?)
c.2199del (p.Ile734SerfsTer?)
c.*762del (n.*762del)
c.2238del (p.Ile747SerfsTer?)
c.2058del (p.Ile687SerfsTer?)
c.2532del (p.Ile845SerfsTer?)
c.2391del (p.Ile798SerfsTer?)
c.2352del (p.Ile785SerfsTer?)
c.2211del (p.Ile738SerfsTer?)
 dbSNP
12g.109784395G>ACA481724046TRPV4c.2379C>T (p.Gly793=)
c.*1466C>T (n.*1466C>T)
c.2277C>T (p.Gly759=)
c.2199C>T (p.Gly733=)
c.*762C>T (n.*762C>T)
c.2238C>T (p.Gly746=)
c.2058C>T (p.Gly686=)
c.2532C>T (p.Gly844=)
c.2391C>T (p.Gly797=)
c.2352C>T (p.Gly784=)
c.2211C>T (p.Gly737=)
12g.109784395G>CCA481724047TRPV4c.2379C>G (p.Gly793=)
c.*1466C>G (n.*1466C>G)
c.2277C>G (p.Gly759=)
c.2199C>G (p.Gly733=)
c.*762C>G (n.*762C>G)
c.2238C>G (p.Gly746=)
c.2058C>G (p.Gly686=)
c.2532C>G (p.Gly844=)
c.2391C>G (p.Gly797=)
c.2352C>G (p.Gly784=)
c.2211C>G (p.Gly737=)
12g.109784395G>TCA481724049TRPV4c.2379C>A (p.Gly793=)
c.*1466C>A (n.*1466C>A)
c.2277C>A (p.Gly759=)
c.2199C>A (p.Gly733=)
c.*762C>A (n.*762C>A)
c.2238C>A (p.Gly746=)
c.2058C>A (p.Gly686=)
c.2532C>A (p.Gly844=)
c.2391C>A (p.Gly797=)
c.2352C>A (p.Gly784=)
c.2211C>A (p.Gly737=)
12g.109784396C>ACA386648850TRPV4c.2378G>T (p.Gly793Val)
c.*1465G>T (n.*1465G>T)
c.2276G>T (p.Gly759Val)
c.2198G>T (p.Gly733Val)
c.*761G>T (n.*761G>T)
c.2237G>T (p.Gly746Val)
c.2057G>T (p.Gly686Val)
c.2531G>T (p.Gly844Val)
c.2390G>T (p.Gly797Val)
c.2351G>T (p.Gly784Val)
c.2210G>T (p.Gly737Val)
 gnomAD v4
12g.109784396C=CA2062557966TRPV4c.2378G= (p.Gly793=)
c.*1465G= (n.*1465G=)
c.2276G= (p.Gly759=)
c.2198G= (p.Gly733=)
c.*761G= (n.*761G=)
c.2237G= (p.Gly746=)
c.2057G= (p.Gly686=)
c.2531G= (p.Gly844=)
c.2390G= (p.Gly797=)
c.2351G= (p.Gly784=)
c.2210G= (p.Gly737=)
12g.109784396C>GCA386648851TRPV4c.2378G>C (p.Gly793Ala)
c.*1465G>C (n.*1465G>C)
c.2276G>C (p.Gly759Ala)
c.2198G>C (p.Gly733Ala)
c.*761G>C (n.*761G>C)
c.2237G>C (p.Gly746Ala)
c.2057G>C (p.Gly686Ala)
c.2531G>C (p.Gly844Ala)
c.2390G>C (p.Gly797Ala)
c.2351G>C (p.Gly784Ala)
c.2210G>C (p.Gly737Ala)
12g.109784396C>TCA386648852TRPV4c.2378G>A (p.Gly793Asp)
c.*1465G>A (n.*1465G>A)
c.2276G>A (p.Gly759Asp)
c.2198G>A (p.Gly733Asp)
c.*761G>A (n.*761G>A)
c.2237G>A (p.Gly746Asp)
c.2057G>A (p.Gly686Asp)
c.2531G>A (p.Gly844Asp)
c.2390G>A (p.Gly797Asp)
c.2351G>A (p.Gly784Asp)
c.2210G>A (p.Gly737Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.109784397C>ACA386648854TRPV4c.2377G>T (p.Gly793Cys)
c.*1464G>T (n.*1464G>T)
c.2275G>T (p.Gly759Cys)
c.2197G>T (p.Gly733Cys)
c.*760G>T (n.*760G>T)
c.2236G>T (p.Gly746Cys)
c.2056G>T (p.Gly686Cys)
c.2530G>T (p.Gly844Cys)
c.2389G>T (p.Gly797Cys)
c.2350G>T (p.Gly784Cys)
c.2209G>T (p.Gly737Cys)
12g.109784397C>GCA386648855TRPV4c.2377G>C (p.Gly793Arg)
c.*1464G>C (n.*1464G>C)
c.2275G>C (p.Gly759Arg)
c.2197G>C (p.Gly733Arg)
c.*760G>C (n.*760G>C)
c.2236G>C (p.Gly746Arg)
c.2056G>C (p.Gly686Arg)
c.2530G>C (p.Gly844Arg)
c.2389G>C (p.Gly797Arg)
c.2350G>C (p.Gly784Arg)
c.2209G>C (p.Gly737Arg)
12g.109784397C>TCA386648853TRPV4c.2377G>A (p.Gly793Ser)
c.*1464G>A (n.*1464G>A)
c.2275G>A (p.Gly759Ser)
c.2197G>A (p.Gly733Ser)
c.*760G>A (n.*760G>A)
c.2236G>A (p.Gly746Ser)
c.2056G>A (p.Gly686Ser)
c.2530G>A (p.Gly844Ser)
c.2389G>A (p.Gly797Ser)
c.2350G>A (p.Gly784Ser)
c.2209G>A (p.Gly737Ser)
 gnomAD v4
12g.109784398C>ACA386648856TRPV4c.2376G>T (p.Leu792Phe)
c.*1463G>T (n.*1463G>T)
c.2274G>T (p.Leu758Phe)
c.2196G>T (p.Leu732Phe)
c.*759G>T (n.*759G>T)
c.2235G>T (p.Leu745Phe)
c.2055G>T (p.Leu685Phe)
c.2529G>T (p.Leu843Phe)
c.2388G>T (p.Leu796Phe)
c.2349G>T (p.Leu783Phe)
c.2208G>T (p.Leu736Phe)
12g.109784398C=CA2062557968TRPV4c.2376G= (p.Leu792=)
c.*1463G= (n.*1463G=)
c.2274G= (p.Leu758=)
c.2196G= (p.Leu732=)
c.*759G= (n.*759G=)
c.2235G= (p.Leu745=)
c.2055G= (p.Leu685=)
c.2529G= (p.Leu843=)
c.2388G= (p.Leu796=)
c.2349G= (p.Leu783=)
c.2208G= (p.Leu736=)
12g.109784398C>GCA386648857TRPV4c.2376G>C (p.Leu792Phe)
c.*1463G>C (n.*1463G>C)
c.2274G>C (p.Leu758Phe)
c.2196G>C (p.Leu732Phe)
c.*759G>C (n.*759G>C)
c.2235G>C (p.Leu745Phe)
c.2055G>C (p.Leu685Phe)
c.2529G>C (p.Leu843Phe)
c.2388G>C (p.Leu796Phe)
c.2349G>C (p.Leu783Phe)
c.2208G>C (p.Leu736Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109784398C>TCA243494841TRPV4c.2376G>A (p.Leu792=)
c.*1463G>A (n.*1463G>A)
c.2274G>A (p.Leu758=)
c.2196G>A (p.Leu732=)
c.*759G>A (n.*759G>A)
c.2235G>A (p.Leu745=)
c.2055G>A (p.Leu685=)
c.2529G>A (p.Leu843=)
c.2388G>A (p.Leu796=)
c.2349G>A (p.Leu783=)
c.2208G>A (p.Leu736=)
 dbSNP gnomAD v3 gnomAD v4
12g.109784399A>CCA386648858TRPV4c.2375T>G (p.Leu792Trp)
c.*1462T>G (n.*1462T>G)
c.2273T>G (p.Leu758Trp)
c.2195T>G (p.Leu732Trp)
c.*758T>G (n.*758T>G)
c.2234T>G (p.Leu745Trp)
c.2054T>G (p.Leu685Trp)
c.2528T>G (p.Leu843Trp)
c.2387T>G (p.Leu796Trp)
c.2348T>G (p.Leu783Trp)
c.2207T>G (p.Leu736Trp)
12g.109784399A>GCA386648860TRPV4c.2375T>C (p.Leu792Ser)
c.*1462T>C (n.*1462T>C)
c.2273T>C (p.Leu758Ser)
c.2195T>C (p.Leu732Ser)
c.*758T>C (n.*758T>C)
c.2234T>C (p.Leu745Ser)
c.2054T>C (p.Leu685Ser)
c.2528T>C (p.Leu843Ser)
c.2387T>C (p.Leu796Ser)
c.2348T>C (p.Leu783Ser)
c.2207T>C (p.Leu736Ser)
 gnomAD v4
12g.109784399A>TCA386648859TRPV4c.2375T>A (p.Leu792Ter)
c.*1462T>A (n.*1462T>A)
c.2273T>A (p.Leu758Ter)
c.2195T>A (p.Leu732Ter)
c.*758T>A (n.*758T>A)
c.2234T>A (p.Leu745Ter)
c.2054T>A (p.Leu685Ter)
c.2528T>A (p.Leu843Ter)
c.2387T>A (p.Leu796Ter)
c.2348T>A (p.Leu783Ter)
c.2207T>A (p.Leu736Ter)
12g.109784400A>CCA386648861TRPV4c.2374T>G (p.Leu792Val)
c.*1461T>G (n.*1461T>G)
c.2272T>G (p.Leu758Val)
c.2194T>G (p.Leu732Val)
c.*757T>G (n.*757T>G)
c.2233T>G (p.Leu745Val)
c.2053T>G (p.Leu685Val)
c.2527T>G (p.Leu843Val)
c.2386T>G (p.Leu796Val)
c.2347T>G (p.Leu783Val)
c.2206T>G (p.Leu736Val)
12g.109784400A>GCA481724054TRPV4c.2374T>C (p.Leu792=)
c.*1461T>C (n.*1461T>C)
c.2272T>C (p.Leu758=)
c.2194T>C (p.Leu732=)
c.*757T>C (n.*757T>C)
c.2233T>C (p.Leu745=)
c.2053T>C (p.Leu685=)
c.2527T>C (p.Leu843=)
c.2386T>C (p.Leu796=)
c.2347T>C (p.Leu783=)
c.2206T>C (p.Leu736=)
 gnomAD v4
12g.109784400A>TCA386648862TRPV4c.2374T>A (p.Leu792Met)
c.*1461T>A (n.*1461T>A)
c.2272T>A (p.Leu758Met)
c.2194T>A (p.Leu732Met)
c.*757T>A (n.*757T>A)
c.2233T>A (p.Leu745Met)
c.2053T>A (p.Leu685Met)
c.2527T>A (p.Leu843Met)
c.2386T>A (p.Leu796Met)
c.2347T>A (p.Leu783Met)
c.2206T>A (p.Leu736Met)
12g.109784401G>ACA481724055TRPV4c.2373C>T (p.Asn791=)
c.*1460C>T (n.*1460C>T)
c.2271C>T (p.Asn757=)
c.2193C>T (p.Asn731=)
c.*756C>T (n.*756C>T)
c.2232C>T (p.Asn744=)
c.2052C>T (p.Asn684=)
c.2526C>T (p.Asn842=)
c.2385C>T (p.Asn795=)
c.2346C>T (p.Asn782=)
c.2205C>T (p.Asn735=)
12g.109784401G>CCA386648863TRPV4c.2373C>G (p.Asn791Lys)
c.*1460C>G (n.*1460C>G)
c.2271C>G (p.Asn757Lys)
c.2193C>G (p.Asn731Lys)
c.*756C>G (n.*756C>G)
c.2232C>G (p.Asn744Lys)
c.2052C>G (p.Asn684Lys)
c.2526C>G (p.Asn842Lys)
c.2385C>G (p.Asn795Lys)
c.2346C>G (p.Asn782Lys)
c.2205C>G (p.Asn735Lys)
12g.109784401G>TCA386648864TRPV4c.2373C>A (p.Asn791Lys)
c.*1460C>A (n.*1460C>A)
c.2271C>A (p.Asn757Lys)
c.2193C>A (p.Asn731Lys)
c.*756C>A (n.*756C>A)
c.2232C>A (p.Asn744Lys)
c.2052C>A (p.Asn684Lys)
c.2526C>A (p.Asn842Lys)
c.2385C>A (p.Asn795Lys)
c.2346C>A (p.Asn782Lys)
c.2205C>A (p.Asn735Lys)
12g.109784402T>ACA386648865TRPV4c.2372A>T (p.Asn791Ile)
c.*1459A>T (n.*1459A>T)
c.2270A>T (p.Asn757Ile)
c.2192A>T (p.Asn731Ile)
c.*755A>T (n.*755A>T)
c.2231A>T (p.Asn744Ile)
c.2051A>T (p.Asn684Ile)
c.2525A>T (p.Asn842Ile)
c.2384A>T (p.Asn795Ile)
c.2345A>T (p.Asn782Ile)
c.2204A>T (p.Asn735Ile)
12g.109784402T>CCA386648866TRPV4c.2372A>G (p.Asn791Ser)
c.*1459A>G (n.*1459A>G)
c.2270A>G (p.Asn757Ser)
c.2192A>G (p.Asn731Ser)
c.*755A>G (n.*755A>G)
c.2231A>G (p.Asn744Ser)
c.2051A>G (p.Asn684Ser)
c.2525A>G (p.Asn842Ser)
c.2384A>G (p.Asn795Ser)
c.2345A>G (p.Asn782Ser)
c.2204A>G (p.Asn735Ser)
12g.109784402T>GCA386648867TRPV4c.2372A>C (p.Asn791Thr)
c.*1459A>C (n.*1459A>C)
c.2270A>C (p.Asn757Thr)
c.2192A>C (p.Asn731Thr)
c.*755A>C (n.*755A>C)
c.2231A>C (p.Asn744Thr)
c.2051A>C (p.Asn684Thr)
c.2525A>C (p.Asn842Thr)
c.2384A>C (p.Asn795Thr)
c.2345A>C (p.Asn782Thr)
c.2204A>C (p.Asn735Thr)
12g.109784403T>ACA386648870TRPV4c.2371A>T (p.Asn791Tyr)
c.*1458A>T (n.*1458A>T)
c.2269A>T (p.Asn757Tyr)
c.2191A>T (p.Asn731Tyr)
c.*754A>T (n.*754A>T)
c.2230A>T (p.Asn744Tyr)
c.2050A>T (p.Asn684Tyr)
c.2524A>T (p.Asn842Tyr)
c.2383A>T (p.Asn795Tyr)
c.2344A>T (p.Asn782Tyr)
c.2203A>T (p.Asn735Tyr)
12g.109784403T>CCA386648868TRPV4c.2371A>G (p.Asn791Asp)
c.*1458A>G (n.*1458A>G)
c.2269A>G (p.Asn757Asp)
c.2191A>G (p.Asn731Asp)
c.*754A>G (n.*754A>G)
c.2230A>G (p.Asn744Asp)
c.2050A>G (p.Asn684Asp)
c.2524A>G (p.Asn842Asp)
c.2383A>G (p.Asn795Asp)
c.2344A>G (p.Asn782Asp)
c.2203A>G (p.Asn735Asp)
12g.109784403T>GCA386648869TRPV4c.2371A>C (p.Asn791His)
c.*1458A>C (n.*1458A>C)
c.2269A>C (p.Asn757His)
c.2191A>C (p.Asn731His)
c.*754A>C (n.*754A>C)
c.2230A>C (p.Asn744His)
c.2050A>C (p.Asn684His)
c.2524A>C (p.Asn842His)
c.2383A>C (p.Asn795His)
c.2344A>C (p.Asn782His)
c.2203A>C (p.Asn735His)
12g.109784404C>ACA386648871TRPV4c.2370G>T (p.Gln790His)
c.*1457G>T (n.*1457G>T)
c.2268G>T (p.Gln756His)
c.2190G>T (p.Gln730His)
c.*753G>T (n.*753G>T)
c.2229G>T (p.Gln743His)
c.2049G>T (p.Gln683His)
c.2523G>T (p.Gln841His)
c.2382G>T (p.Gln794His)
c.2343G>T (p.Gln781His)
c.2202G>T (p.Gln734His)
12g.109784404C>GCA386648872TRPV4c.2370G>C (p.Gln790His)
c.*1457G>C (n.*1457G>C)
c.2268G>C (p.Gln756His)
c.2190G>C (p.Gln730His)
c.*753G>C (n.*753G>C)
c.2229G>C (p.Gln743His)
c.2049G>C (p.Gln683His)
c.2523G>C (p.Gln841His)
c.2382G>C (p.Gln794His)
c.2343G>C (p.Gln781His)
c.2202G>C (p.Gln734His)
12g.109784404C>TCA481724057TRPV4c.2370G>A (p.Gln790=)
c.*1457G>A (n.*1457G>A)
c.2268G>A (p.Gln756=)
c.2190G>A (p.Gln730=)
c.*753G>A (n.*753G>A)
c.2229G>A (p.Gln743=)
c.2049G>A (p.Gln683=)
c.2523G>A (p.Gln841=)
c.2382G>A (p.Gln794=)
c.2343G>A (p.Gln781=)
c.2202G>A (p.Gln734=)
12g.109784405T>ACA386648873TRPV4c.2369A>T (p.Gln790Leu)
c.*1456A>T (n.*1456A>T)
c.2267A>T (p.Gln756Leu)
c.2189A>T (p.Gln730Leu)
c.*752A>T (n.*752A>T)
c.2228A>T (p.Gln743Leu)
c.2048A>T (p.Gln683Leu)
c.2522A>T (p.Gln841Leu)
c.2381A>T (p.Gln794Leu)
c.2342A>T (p.Gln781Leu)
c.2201A>T (p.Gln734Leu)
12g.109784405T>CCA386648874TRPV4c.2369A>G (p.Gln790Arg)
c.*1456A>G (n.*1456A>G)
c.2267A>G (p.Gln756Arg)
c.2189A>G (p.Gln730Arg)
c.*752A>G (n.*752A>G)
c.2228A>G (p.Gln743Arg)
c.2048A>G (p.Gln683Arg)
c.2522A>G (p.Gln841Arg)
c.2381A>G (p.Gln794Arg)
c.2342A>G (p.Gln781Arg)
c.2201A>G (p.Gln734Arg)
12g.109784405T>GCA386648875TRPV4c.2369A>C (p.Gln790Pro)
c.*1456A>C (n.*1456A>C)
c.2267A>C (p.Gln756Pro)
c.2189A>C (p.Gln730Pro)
c.*752A>C (n.*752A>C)
c.2228A>C (p.Gln743Pro)
c.2048A>C (p.Gln683Pro)
c.2522A>C (p.Gln841Pro)
c.2381A>C (p.Gln794Pro)
c.2342A>C (p.Gln781Pro)
c.2201A>C (p.Gln734Pro)
12g.109784406G>ACA386648876TRPV4c.2368C>T (p.Gln790Ter)
c.*1455C>T (n.*1455C>T)
c.2266C>T (p.Gln756Ter)
c.2188C>T (p.Gln730Ter)
c.*751C>T (n.*751C>T)
c.2227C>T (p.Gln743Ter)
c.2047C>T (p.Gln683Ter)
c.2521C>T (p.Gln841Ter)
c.2380C>T (p.Gln794Ter)
c.2341C>T (p.Gln781Ter)
c.2200C>T (p.Gln734Ter)
12g.109784406G>CCA386648878TRPV4c.2368C>G (p.Gln790Glu)
c.*1455C>G (n.*1455C>G)
c.2266C>G (p.Gln756Glu)
c.2188C>G (p.Gln730Glu)
c.*751C>G (n.*751C>G)
c.2227C>G (p.Gln743Glu)
c.2047C>G (p.Gln683Glu)
c.2521C>G (p.Gln841Glu)
c.2380C>G (p.Gln794Glu)
c.2341C>G (p.Gln781Glu)
c.2200C>G (p.Gln734Glu)
12g.109784406G>TCA386648877TRPV4c.2368C>A (p.Gln790Lys)
c.*1455C>A (n.*1455C>A)
c.2266C>A (p.Gln756Lys)
c.2188C>A (p.Gln730Lys)
c.*751C>A (n.*751C>A)
c.2227C>A (p.Gln743Lys)
c.2047C>A (p.Gln683Lys)
c.2521C>A (p.Gln841Lys)
c.2380C>A (p.Gln794Lys)
c.2341C>A (p.Gln781Lys)
c.2200C>A (p.Gln734Lys)
12g.109784407G>ACA481724059TRPV4c.2367C>T (p.Asn789=)
c.*1454C>T (n.*1454C>T)
c.2265C>T (p.Asn755=)
c.2187C>T (p.Asn729=)
c.*750C>T (n.*750C>T)
c.2226C>T (p.Asn742=)
c.2046C>T (p.Asn682=)
c.2520C>T (p.Asn840=)
c.2379C>T (p.Asn793=)
c.2340C>T (p.Asn780=)
c.2199C>T (p.Asn733=)
12g.109784407G>CCA386648879TRPV4c.2367C>G (p.Asn789Lys)
c.*1454C>G (n.*1454C>G)
c.2265C>G (p.Asn755Lys)
c.2187C>G (p.Asn729Lys)
c.*750C>G (n.*750C>G)
c.2226C>G (p.Asn742Lys)
c.2046C>G (p.Asn682Lys)
c.2520C>G (p.Asn840Lys)
c.2379C>G (p.Asn793Lys)
c.2340C>G (p.Asn780Lys)
c.2199C>G (p.Asn733Lys)
12g.109784407G>TCA386648880TRPV4c.2367C>A (p.Asn789Lys)
c.*1454C>A (n.*1454C>A)
c.2265C>A (p.Asn755Lys)
c.2187C>A (p.Asn729Lys)
c.*750C>A (n.*750C>A)
c.2226C>A (p.Asn742Lys)
c.2046C>A (p.Asn682Lys)
c.2520C>A (p.Asn840Lys)
c.2379C>A (p.Asn793Lys)
c.2340C>A (p.Asn780Lys)
c.2199C>A (p.Asn733Lys)
12g.109784408T>ACA386648881TRPV4c.2366A>T (p.Asn789Ile)
c.*1453A>T (n.*1453A>T)
c.2264A>T (p.Asn755Ile)
c.2186A>T (p.Asn729Ile)
c.*749A>T (n.*749A>T)
c.2225A>T (p.Asn742Ile)
c.2045A>T (p.Asn682Ile)
c.2519A>T (p.Asn840Ile)
c.2378A>T (p.Asn793Ile)
c.2339A>T (p.Asn780Ile)
c.2198A>T (p.Asn733Ile)
12g.109784408T>CCA386648882TRPV4c.2366A>G (p.Asn789Ser)
c.*1453A>G (n.*1453A>G)
c.2264A>G (p.Asn755Ser)
c.2186A>G (p.Asn729Ser)
c.*749A>G (n.*749A>G)
c.2225A>G (p.Asn742Ser)
c.2045A>G (p.Asn682Ser)
c.2519A>G (p.Asn840Ser)
c.2378A>G (p.Asn793Ser)
c.2339A>G (p.Asn780Ser)
c.2198A>G (p.Asn733Ser)
 gnomAD v4
12g.109784408T>GCA386648883TRPV4c.2366A>C (p.Asn789Thr)
c.*1453A>C (n.*1453A>C)
c.2264A>C (p.Asn755Thr)
c.2186A>C (p.Asn729Thr)
c.*749A>C (n.*749A>C)
c.2225A>C (p.Asn742Thr)
c.2045A>C (p.Asn682Thr)
c.2519A>C (p.Asn840Thr)
c.2378A>C (p.Asn793Thr)
c.2339A>C (p.Asn780Thr)
c.2198A>C (p.Asn733Thr)
12g.109784409T>ACA386648884TRPV4c.2365A>T (p.Asn789Tyr)
c.*1452A>T (n.*1452A>T)
c.2263A>T (p.Asn755Tyr)
c.2185A>T (p.Asn729Tyr)
c.*748A>T (n.*748A>T)
c.2224A>T (p.Asn742Tyr)
c.2044A>T (p.Asn682Tyr)
c.2518A>T (p.Asn840Tyr)
c.2377A>T (p.Asn793Tyr)
c.2338A>T (p.Asn780Tyr)
c.2197A>T (p.Asn733Tyr)
12g.109784409T>CCA386648885TRPV4c.2365A>G (p.Asn789Asp)
c.*1452A>G (n.*1452A>G)
c.2263A>G (p.Asn755Asp)
c.2185A>G (p.Asn729Asp)
c.*748A>G (n.*748A>G)
c.2224A>G (p.Asn742Asp)
c.2044A>G (p.Asn682Asp)
c.2518A>G (p.Asn840Asp)
c.2377A>G (p.Asn793Asp)
c.2338A>G (p.Asn780Asp)
c.2197A>G (p.Asn733Asp)
 gnomAD v4
12g.109784409T>GCA386648886TRPV4c.2365A>C (p.Asn789His)
c.*1452A>C (n.*1452A>C)
c.2263A>C (p.Asn755His)
c.2185A>C (p.Asn729His)
c.*748A>C (n.*748A>C)
c.2224A>C (p.Asn742His)
c.2044A>C (p.Asn682His)
c.2518A>C (p.Asn840His)
c.2377A>C (p.Asn793His)
c.2338A>C (p.Asn780His)
c.2197A>C (p.Asn733His)
12g.109784410C>ACA386648887TRPV4c.2364G>T (p.Trp788Cys)
c.*1451G>T (n.*1451G>T)
c.2262G>T (p.Trp754Cys)
c.2184G>T (p.Trp728Cys)
c.*747G>T (n.*747G>T)
c.2223G>T (p.Trp741Cys)
c.2043G>T (p.Trp681Cys)
c.2517G>T (p.Trp839Cys)
c.2376G>T (p.Trp792Cys)
c.2337G>T (p.Trp779Cys)
c.2196G>T (p.Trp732Cys)
12g.109784410C>GCA386648888TRPV4c.2364G>C (p.Trp788Cys)
c.*1451G>C (n.*1451G>C)
c.2262G>C (p.Trp754Cys)
c.2184G>C (p.Trp728Cys)
c.*747G>C (n.*747G>C)
c.2223G>C (p.Trp741Cys)
c.2043G>C (p.Trp681Cys)
c.2517G>C (p.Trp839Cys)
c.2376G>C (p.Trp792Cys)
c.2337G>C (p.Trp779Cys)
c.2196G>C (p.Trp732Cys)
12g.109784410C>TCA386648889TRPV4c.2364G>A (p.Trp788Ter)
c.*1451G>A (n.*1451G>A)
c.2262G>A (p.Trp754Ter)
c.2184G>A (p.Trp728Ter)
c.*747G>A (n.*747G>A)
c.2223G>A (p.Trp741Ter)
c.2043G>A (p.Trp681Ter)
c.2517G>A (p.Trp839Ter)
c.2376G>A (p.Trp792Ter)
c.2337G>A (p.Trp779Ter)
c.2196G>A (p.Trp732Ter)
12g.109784411C>ACA386648890TRPV4c.2363G>T (p.Trp788Leu)
c.*1450G>T (n.*1450G>T)
c.2261G>T (p.Trp754Leu)
c.2183G>T (p.Trp728Leu)
c.*746G>T (n.*746G>T)
c.2222G>T (p.Trp741Leu)
c.2042G>T (p.Trp681Leu)
c.2516G>T (p.Trp839Leu)
c.2375G>T (p.Trp792Leu)
c.2336G>T (p.Trp779Leu)
c.2195G>T (p.Trp732Leu)
12g.109784411C>GCA386648892TRPV4c.2363G>C (p.Trp788Ser)
c.*1450G>C (n.*1450G>C)
c.2261G>C (p.Trp754Ser)
c.2183G>C (p.Trp728Ser)
c.*746G>C (n.*746G>C)
c.2222G>C (p.Trp741Ser)
c.2042G>C (p.Trp681Ser)
c.2516G>C (p.Trp839Ser)
c.2375G>C (p.Trp792Ser)
c.2336G>C (p.Trp779Ser)
c.2195G>C (p.Trp732Ser)
12g.109784411C>TCA386648891TRPV4c.2363G>A (p.Trp788Ter)
c.*1450G>A (n.*1450G>A)
c.2261G>A (p.Trp754Ter)
c.2183G>A (p.Trp728Ter)
c.*746G>A (n.*746G>A)
c.2222G>A (p.Trp741Ter)
c.2042G>A (p.Trp681Ter)
c.2516G>A (p.Trp839Ter)
c.2375G>A (p.Trp792Ter)
c.2336G>A (p.Trp779Ter)
c.2195G>A (p.Trp732Ter)
12g.109784412A>CCA386648893TRPV4c.2362T>G (p.Trp788Gly)
c.*1449T>G (n.*1449T>G)
c.2260T>G (p.Trp754Gly)
c.2182T>G (p.Trp728Gly)
c.*745T>G (n.*745T>G)
c.2221T>G (p.Trp741Gly)
c.2041T>G (p.Trp681Gly)
c.2515T>G (p.Trp839Gly)
c.2374T>G (p.Trp792Gly)
c.2335T>G (p.Trp779Gly)
c.2194T>G (p.Trp732Gly)
12g.109784412A>GCA386648894TRPV4c.2362T>C (p.Trp788Arg)
c.*1449T>C (n.*1449T>C)
c.2260T>C (p.Trp754Arg)
c.2182T>C (p.Trp728Arg)
c.*745T>C (n.*745T>C)
c.2221T>C (p.Trp741Arg)
c.2041T>C (p.Trp681Arg)
c.2515T>C (p.Trp839Arg)
c.2374T>C (p.Trp792Arg)
c.2335T>C (p.Trp779Arg)
c.2194T>C (p.Trp732Arg)
12g.109784412A>TCA386648895TRPV4c.2362T>A (p.Trp788Arg)
c.*1449T>A (n.*1449T>A)
c.2260T>A (p.Trp754Arg)
c.2182T>A (p.Trp728Arg)
c.*745T>A (n.*745T>A)
c.2221T>A (p.Trp741Arg)
c.2041T>A (p.Trp681Arg)
c.2515T>A (p.Trp839Arg)
c.2374T>A (p.Trp792Arg)
c.2335T>A (p.Trp779Arg)
c.2194T>A (p.Trp732Arg)
12g.109784413G>ACA481724064TRPV4c.2361C>T (p.His787=)
c.*1448C>T (n.*1448C>T)
c.2259C>T (p.His753=)
c.2181C>T (p.His727=)
c.*744C>T (n.*744C>T)
c.2220C>T (p.His740=)
c.2040C>T (p.His680=)
c.2514C>T (p.His838=)
c.2373C>T (p.His791=)
c.2334C>T (p.His778=)
c.2193C>T (p.His731=)
 ClinVar dbSNP
12g.109784413G>CCA386648896TRPV4c.2361C>G (p.His787Gln)
c.*1448C>G (n.*1448C>G)
c.2259C>G (p.His753Gln)
c.2181C>G (p.His727Gln)
c.*744C>G (n.*744C>G)
c.2220C>G (p.His740Gln)
c.2040C>G (p.His680Gln)
c.2514C>G (p.His838Gln)
c.2373C>G (p.His791Gln)
c.2334C>G (p.His778Gln)
c.2193C>G (p.His731Gln)
12g.109784413G=CA2062557969TRPV4c.2361C= (p.His787=)
c.*1448C= (n.*1448C=)
c.2259C= (p.His753=)
c.2181C= (p.His727=)
c.*744C= (n.*744C=)
c.2220C= (p.His740=)
c.2040C= (p.His680=)
c.2514C= (p.His838=)
c.2373C= (p.His791=)
c.2334C= (p.His778=)
c.2193C= (p.His731=)
12g.109784413G>TCA386648897TRPV4c.2361C>A (p.His787Gln)
c.*1448C>A (n.*1448C>A)
c.2259C>A (p.His753Gln)
c.2181C>A (p.His727Gln)
c.*744C>A (n.*744C>A)
c.2220C>A (p.His740Gln)
c.2040C>A (p.His680Gln)
c.2514C>A (p.His838Gln)
c.2373C>A (p.His791Gln)
c.2334C>A (p.His778Gln)
c.2193C>A (p.His731Gln)
12g.109784414T>ACA386648898TRPV4c.2360A>T (p.His787Leu)
c.*1447A>T (n.*1447A>T)
c.2258A>T (p.His753Leu)
c.2180A>T (p.His727Leu)
c.*743A>T (n.*743A>T)
c.2219A>T (p.His740Leu)
c.2039A>T (p.His680Leu)
c.2513A>T (p.His838Leu)
c.2372A>T (p.His791Leu)
c.2333A>T (p.His778Leu)
c.2192A>T (p.His731Leu)
12g.109784414T>CCA386648899TRPV4c.2360A>G (p.His787Arg)
c.*1447A>G (n.*1447A>G)
c.2258A>G (p.His753Arg)
c.2180A>G (p.His727Arg)
c.*743A>G (n.*743A>G)
c.2219A>G (p.His740Arg)
c.2039A>G (p.His680Arg)
c.2513A>G (p.His838Arg)
c.2372A>G (p.His791Arg)
c.2333A>G (p.His778Arg)
c.2192A>G (p.His731Arg)
12g.109784414T>GCA386648900TRPV4c.2360A>C (p.His787Pro)
c.*1447A>C (n.*1447A>C)
c.2258A>C (p.His753Pro)
c.2180A>C (p.His727Pro)
c.*743A>C (n.*743A>C)
c.2219A>C (p.His740Pro)
c.2039A>C (p.His680Pro)
c.2513A>C (p.His838Pro)
c.2372A>C (p.His791Pro)
c.2333A>C (p.His778Pro)
c.2192A>C (p.His731Pro)
12g.109784415G>ACA386648901TRPV4c.2359C>T (p.His787Tyr)
c.*1446C>T (n.*1446C>T)
c.2257C>T (p.His753Tyr)
c.2179C>T (p.His727Tyr)
c.*742C>T (n.*742C>T)
c.2218C>T (p.His740Tyr)
c.2038C>T (p.His680Tyr)
c.2512C>T (p.His838Tyr)
c.2371C>T (p.His791Tyr)
c.2332C>T (p.His778Tyr)
c.2191C>T (p.His731Tyr)
 COSMIC
12g.109784415G>CCA386648902TRPV4c.2359C>G (p.His787Asp)
c.*1446C>G (n.*1446C>G)
c.2257C>G (p.His753Asp)
c.2179C>G (p.His727Asp)
c.*742C>G (n.*742C>G)
c.2218C>G (p.His740Asp)
c.2038C>G (p.His680Asp)
c.2512C>G (p.His838Asp)
c.2371C>G (p.His791Asp)
c.2332C>G (p.His778Asp)
c.2191C>G (p.His731Asp)
12g.109784415G>TCA386648903TRPV4c.2359C>A (p.His787Asn)
c.*1446C>A (n.*1446C>A)
c.2257C>A (p.His753Asn)
c.2179C>A (p.His727Asn)
c.*742C>A (n.*742C>A)
c.2218C>A (p.His740Asn)
c.2038C>A (p.His680Asn)
c.2512C>A (p.His838Asn)
c.2371C>A (p.His791Asn)
c.2332C>A (p.His778Asn)
c.2191C>A (p.His731Asn)
12g.109784416A>CCA481724065TRPV4c.2358T>G (p.Ser786=)
c.*1445T>G (n.*1445T>G)
c.2256T>G (p.Ser752=)
c.2178T>G (p.Ser726=)
c.*741T>G (n.*741T>G)
c.2217T>G (p.Ser739=)
c.2037T>G (p.Ser679=)
c.2511T>G (p.Ser837=)
c.2370T>G (p.Ser790=)
c.2331T>G (p.Ser777=)
c.2190T>G (p.Ser730=)
12g.109784416A>GCA481724067TRPV4c.2358T>C (p.Ser786=)
c.*1445T>C (n.*1445T>C)
c.2256T>C (p.Ser752=)
c.2178T>C (p.Ser726=)
c.*741T>C (n.*741T>C)
c.2217T>C (p.Ser739=)
c.2037T>C (p.Ser679=)
c.2511T>C (p.Ser837=)
c.2370T>C (p.Ser790=)
c.2331T>C (p.Ser777=)
c.2190T>C (p.Ser730=)
12g.109784416A>TCA481724066TRPV4c.2358T>A (p.Ser786=)
c.*1445T>A (n.*1445T>A)
c.2256T>A (p.Ser752=)
c.2178T>A (p.Ser726=)
c.*741T>A (n.*741T>A)
c.2217T>A (p.Ser739=)
c.2037T>A (p.Ser679=)
c.2511T>A (p.Ser837=)
c.2370T>A (p.Ser790=)
c.2331T>A (p.Ser777=)
c.2190T>A (p.Ser730=)
12g.109784417G>ACA386648906TRPV4c.2357C>T (p.Ser786Phe)
c.*1444C>T (n.*1444C>T)
c.2255C>T (p.Ser752Phe)
c.2177C>T (p.Ser726Phe)
c.*740C>T (n.*740C>T)
c.2216C>T (p.Ser739Phe)
c.2036C>T (p.Ser679Phe)
c.2510C>T (p.Ser837Phe)
c.2369C>T (p.Ser790Phe)
c.2330C>T (p.Ser777Phe)
c.2189C>T (p.Ser730Phe)
12g.109784417G>CCA386648905TRPV4c.2357C>G (p.Ser786Cys)
c.*1444C>G (n.*1444C>G)
c.2255C>G (p.Ser752Cys)
c.2177C>G (p.Ser726Cys)
c.*740C>G (n.*740C>G)
c.2216C>G (p.Ser739Cys)
c.2036C>G (p.Ser679Cys)
c.2510C>G (p.Ser837Cys)
c.2369C>G (p.Ser790Cys)
c.2330C>G (p.Ser777Cys)
c.2189C>G (p.Ser730Cys)
12g.109784417G>TCA386648904TRPV4c.2357C>A (p.Ser786Tyr)
c.*1444C>A (n.*1444C>A)
c.2255C>A (p.Ser752Tyr)
c.2177C>A (p.Ser726Tyr)
c.*740C>A (n.*740C>A)
c.2216C>A (p.Ser739Tyr)
c.2036C>A (p.Ser679Tyr)
c.2510C>A (p.Ser837Tyr)
c.2369C>A (p.Ser790Tyr)
c.2330C>A (p.Ser777Tyr)
c.2189C>A (p.Ser730Tyr)
12g.109784418A>CCA386648907TRPV4c.2356T>G (p.Ser786Ala)
c.*1443T>G (n.*1443T>G)
c.2254T>G (p.Ser752Ala)
c.2176T>G (p.Ser726Ala)
c.*739T>G (n.*739T>G)
c.2215T>G (p.Ser739Ala)
c.2035T>G (p.Ser679Ala)
c.2509T>G (p.Ser837Ala)
c.2368T>G (p.Ser790Ala)
c.2329T>G (p.Ser777Ala)
c.2188T>G (p.Ser730Ala)
12g.109784418A>GCA386648908TRPV4c.2356T>C (p.Ser786Pro)
c.*1443T>C (n.*1443T>C)
c.2254T>C (p.Ser752Pro)
c.2176T>C (p.Ser726Pro)
c.*739T>C (n.*739T>C)
c.2215T>C (p.Ser739Pro)
c.2035T>C (p.Ser679Pro)
c.2509T>C (p.Ser837Pro)
c.2368T>C (p.Ser790Pro)
c.2329T>C (p.Ser777Pro)
c.2188T>C (p.Ser730Pro)
12g.109784418A>TCA386648909TRPV4c.2356T>A (p.Ser786Thr)
c.*1443T>A (n.*1443T>A)
c.2254T>A (p.Ser752Thr)
c.2176T>A (p.Ser726Thr)
c.*739T>A (n.*739T>A)
c.2215T>A (p.Ser739Thr)
c.2035T>A (p.Ser679Thr)
c.2509T>A (p.Ser837Thr)
c.2368T>A (p.Ser790Thr)
c.2329T>A (p.Ser777Thr)
c.2188T>A (p.Ser730Thr)
12g.109784418_109784419delinsACCA2062557970TRPV4c.2355_2356delinsGT (p.Trp785=)
c.*1442_*1443delinsGT (n.*1442_*1443delinsGT)
c.2253_2254delinsGT (p.Trp751=)
c.2175_2176delinsGT (p.Trp725=)
c.*738_*739delinsGT (n.*738_*739delinsGT)
c.2214_2215delinsGT (p.Trp738=)
c.2034_2035delinsGT (p.Trp678=)
c.2508_2509delinsGT (p.Trp836=)
c.2367_2368delinsGT (p.Trp789=)
c.2328_2329delinsGT (p.Trp776=)
c.2187_2188delinsGT (p.Trp729=)
12g.109784419C>ACA386648910TRPV4c.2355G>T (p.Trp785Cys)
c.*1442G>T (n.*1442G>T)
c.2253G>T (p.Trp751Cys)
c.2175G>T (p.Trp725Cys)
c.*738G>T (n.*738G>T)
c.2214G>T (p.Trp738Cys)
c.2034G>T (p.Trp678Cys)
c.2508G>T (p.Trp836Cys)
c.2367G>T (p.Trp789Cys)
c.2328G>T (p.Trp776Cys)
c.2187G>T (p.Trp729Cys)
 dbSNP
12g.109784419C=CA2062557972TRPV4c.2355G= (p.Trp785=)
c.*1442G= (n.*1442G=)
c.2253G= (p.Trp751=)
c.2175G= (p.Trp725=)
c.*738G= (n.*738G=)
c.2214G= (p.Trp738=)
c.2034G= (p.Trp678=)
c.2508G= (p.Trp836=)
c.2367G= (p.Trp789=)
c.2328G= (p.Trp776=)
c.2187G= (p.Trp729=)
12g.109784419C>GCA386648911TRPV4c.2355G>C (p.Trp785Cys)
c.*1442G>C (n.*1442G>C)
c.2253G>C (p.Trp751Cys)
c.2175G>C (p.Trp725Cys)
c.*738G>C (n.*738G>C)
c.2214G>C (p.Trp738Cys)
c.2034G>C (p.Trp678Cys)
c.2508G>C (p.Trp836Cys)
c.2367G>C (p.Trp789Cys)
c.2328G>C (p.Trp776Cys)
c.2187G>C (p.Trp729Cys)
12g.109784419C>TCA386648912TRPV4c.2355G>A (p.Trp785Ter)
c.*1442G>A (n.*1442G>A)
c.2253G>A (p.Trp751Ter)
c.2175G>A (p.Trp725Ter)
c.*738G>A (n.*738G>A)
c.2214G>A (p.Trp738Ter)
c.2034G>A (p.Trp678Ter)
c.2508G>A (p.Trp836Ter)
c.2367G>A (p.Trp789Ter)
c.2328G>A (p.Trp776Ter)
c.2187G>A (p.Trp729Ter)
 dbSNP gnomAD v2
12g.109784420delCA683466030TRPV4c.2355del (p.Trp785CysfsTer?)
c.*1442del (n.*1442del)
c.2253del (p.Trp751CysfsTer?)
c.2175del (p.Trp725CysfsTer?)
c.*738del (n.*738del)
c.2214del (p.Trp738CysfsTer?)
c.2034del (p.Trp678CysfsTer?)
c.2508del (p.Trp836CysfsTer?)
c.2367del (p.Trp789CysfsTer?)
c.2328del (p.Trp776CysfsTer?)
c.2187del (p.Trp729CysfsTer?)
 dbSNP gnomAD v3 gnomAD v4
12g.109784420C>ACA386648913TRPV4c.2354G>T (p.Trp785Leu)
c.*1441G>T (n.*1441G>T)
c.2252G>T (p.Trp751Leu)
c.2174G>T (p.Trp725Leu)
c.*737G>T (n.*737G>T)
c.2213G>T (p.Trp738Leu)
c.2033G>T (p.Trp678Leu)
c.2507G>T (p.Trp836Leu)
c.2366G>T (p.Trp789Leu)
c.2327G>T (p.Trp776Leu)
c.2186G>T (p.Trp729Leu)
12g.109784420C>GCA386648914TRPV4c.2354G>C (p.Trp785Ser)
c.*1441G>C (n.*1441G>C)
c.2252G>C (p.Trp751Ser)
c.2174G>C (p.Trp725Ser)
c.*737G>C (n.*737G>C)
c.2213G>C (p.Trp738Ser)
c.2033G>C (p.Trp678Ser)
c.2507G>C (p.Trp836Ser)
c.2366G>C (p.Trp789Ser)
c.2327G>C (p.Trp776Ser)
c.2186G>C (p.Trp729Ser)
 ClinVar
12g.109784420C>TCA386648915TRPV4c.2354G>A (p.Trp785Ter)
c.*1441G>A (n.*1441G>A)
c.2252G>A (p.Trp751Ter)
c.2174G>A (p.Trp725Ter)
c.*737G>A (n.*737G>A)
c.2213G>A (p.Trp738Ter)
c.2033G>A (p.Trp678Ter)
c.2507G>A (p.Trp836Ter)
c.2366G>A (p.Trp789Ter)
c.2327G>A (p.Trp776Ter)
c.2186G>A (p.Trp729Ter)
12g.109784421A>CCA386648916TRPV4c.2353T>G (p.Trp785Gly)
c.*1440T>G (n.*1440T>G)
c.2251T>G (p.Trp751Gly)
c.2173T>G (p.Trp725Gly)
c.*736T>G (n.*736T>G)
c.2212T>G (p.Trp738Gly)
c.2032T>G (p.Trp678Gly)
c.2506T>G (p.Trp836Gly)
c.2365T>G (p.Trp789Gly)
c.2326T>G (p.Trp776Gly)
c.2185T>G (p.Trp729Gly)
12g.109784421A>GCA386648917TRPV4c.2353T>C (p.Trp785Arg)
c.*1440T>C (n.*1440T>C)
c.2251T>C (p.Trp751Arg)
c.2173T>C (p.Trp725Arg)
c.*736T>C (n.*736T>C)
c.2212T>C (p.Trp738Arg)
c.2032T>C (p.Trp678Arg)
c.2506T>C (p.Trp836Arg)
c.2365T>C (p.Trp789Arg)
c.2326T>C (p.Trp776Arg)
c.2185T>C (p.Trp729Arg)
 ClinVar dbSNP
12g.109784421A>TCA386648918TRPV4c.2353T>A (p.Trp785Arg)
c.*1440T>A (n.*1440T>A)
c.2251T>A (p.Trp751Arg)
c.2173T>A (p.Trp725Arg)
c.*736T>A (n.*736T>A)
c.2212T>A (p.Trp738Arg)
c.2032T>A (p.Trp678Arg)
c.2506T>A (p.Trp836Arg)
c.2365T>A (p.Trp789Arg)
c.2326T>A (p.Trp776Arg)
c.2185T>A (p.Trp729Arg)
12g.109784422G>ACA481724068TRPV4c.2352C>T (p.Asn784=)
c.*1439C>T (n.*1439C>T)
c.2250C>T (p.Asn750=)
c.2172C>T (p.Asn724=)
c.*735C>T (n.*735C>T)
c.2211C>T (p.Asn737=)
c.2031C>T (p.Asn677=)
c.2505C>T (p.Asn835=)
c.2364C>T (p.Asn788=)
c.2325C>T (p.Asn775=)
c.2184C>T (p.Asn728=)
12g.109784422G>CCA386648919TRPV4c.2352C>G (p.Asn784Lys)
c.*1439C>G (n.*1439C>G)
c.2250C>G (p.Asn750Lys)
c.2172C>G (p.Asn724Lys)
c.*735C>G (n.*735C>G)
c.2211C>G (p.Asn737Lys)
c.2031C>G (p.Asn677Lys)
c.2505C>G (p.Asn835Lys)
c.2364C>G (p.Asn788Lys)
c.2325C>G (p.Asn775Lys)
c.2184C>G (p.Asn728Lys)
12g.109784422G>TCA386648920TRPV4c.2352C>A (p.Asn784Lys)
c.*1439C>A (n.*1439C>A)
c.2250C>A (p.Asn750Lys)
c.2172C>A (p.Asn724Lys)
c.*735C>A (n.*735C>A)
c.2211C>A (p.Asn737Lys)
c.2031C>A (p.Asn677Lys)
c.2505C>A (p.Asn835Lys)
c.2364C>A (p.Asn788Lys)
c.2325C>A (p.Asn775Lys)
c.2184C>A (p.Asn728Lys)
12g.109784423T>ACA386648921TRPV4c.2351A>T (p.Asn784Ile)
c.*1438A>T (n.*1438A>T)
c.2249A>T (p.Asn750Ile)
c.2171A>T (p.Asn724Ile)
c.*734A>T (n.*734A>T)
c.2210A>T (p.Asn737Ile)
c.2030A>T (p.Asn677Ile)
c.2504A>T (p.Asn835Ile)
c.2363A>T (p.Asn788Ile)
c.2324A>T (p.Asn775Ile)
c.2183A>T (p.Asn728Ile)
12g.109784423T>CCA386648923TRPV4c.2351A>G (p.Asn784Ser)
c.*1438A>G (n.*1438A>G)
c.2249A>G (p.Asn750Ser)
c.2171A>G (p.Asn724Ser)
c.*734A>G (n.*734A>G)
c.2210A>G (p.Asn737Ser)
c.2030A>G (p.Asn677Ser)
c.2504A>G (p.Asn835Ser)
c.2363A>G (p.Asn788Ser)
c.2324A>G (p.Asn775Ser)
c.2183A>G (p.Asn728Ser)
12g.109784423T>GCA386648922TRPV4c.2351A>C (p.Asn784Thr)
c.*1438A>C (n.*1438A>C)
c.2249A>C (p.Asn750Thr)
c.2171A>C (p.Asn724Thr)
c.*734A>C (n.*734A>C)
c.2210A>C (p.Asn737Thr)
c.2030A>C (p.Asn677Thr)
c.2504A>C (p.Asn835Thr)
c.2363A>C (p.Asn788Thr)
c.2324A>C (p.Asn775Thr)
c.2183A>C (p.Asn728Thr)
12g.109784424T>ACA386648924TRPV4c.2350A>T (p.Asn784Tyr)
c.*1437A>T (n.*1437A>T)
c.2248A>T (p.Asn750Tyr)
c.2170A>T (p.Asn724Tyr)
c.*733A>T (n.*733A>T)
c.2209A>T (p.Asn737Tyr)
c.2029A>T (p.Asn677Tyr)
c.2503A>T (p.Asn835Tyr)
c.2362A>T (p.Asn788Tyr)
c.2323A>T (p.Asn775Tyr)
c.2182A>T (p.Asn728Tyr)
12g.109784424T>CCA386648925TRPV4c.2350A>G (p.Asn784Asp)
c.*1437A>G (n.*1437A>G)
c.2248A>G (p.Asn750Asp)
c.2170A>G (p.Asn724Asp)
c.*733A>G (n.*733A>G)
c.2209A>G (p.Asn737Asp)
c.2029A>G (p.Asn677Asp)
c.2503A>G (p.Asn835Asp)
c.2362A>G (p.Asn788Asp)
c.2323A>G (p.Asn775Asp)
c.2182A>G (p.Asn728Asp)
 ClinVar gnomAD v4
12g.109784424T>GCA386648926TRPV4c.2350A>C (p.Asn784His)
c.*1437A>C (n.*1437A>C)
c.2248A>C (p.Asn750His)
c.2170A>C (p.Asn724His)
c.*733A>C (n.*733A>C)
c.2209A>C (p.Asn737His)
c.2029A>C (p.Asn677His)
c.2503A>C (p.Asn835His)
c.2362A>C (p.Asn788His)
c.2323A>C (p.Asn775His)
c.2182A>C (p.Asn728His)
12g.109784425C>ACA481724070TRPV4c.2349G>T (p.Val783=)
c.*1436G>T (n.*1436G>T)
c.2247G>T (p.Val749=)
c.2169G>T (p.Val723=)
c.*732G>T (n.*732G>T)
c.2208G>T (p.Val736=)
c.2028G>T (p.Val676=)
c.2502G>T (p.Val834=)
c.2361G>T (p.Val787=)
c.2322G>T (p.Val774=)
c.2181G>T (p.Val727=)
 gnomAD v4
12g.109784425C=CA2062557974TRPV4c.2349G= (p.Val783=)
c.*1436G= (n.*1436G=)
c.2247G= (p.Val749=)
c.2169G= (p.Val723=)
c.*732G= (n.*732G=)
c.2208G= (p.Val736=)
c.2028G= (p.Val676=)
c.2502G= (p.Val834=)
c.2361G= (p.Val787=)
c.2322G= (p.Val774=)
c.2181G= (p.Val727=)
12g.109784425C>GCA481724069TRPV4c.2349G>C (p.Val783=)
c.*1436G>C (n.*1436G>C)
c.2247G>C (p.Val749=)
c.2169G>C (p.Val723=)
c.*732G>C (n.*732G>C)
c.2208G>C (p.Val736=)
c.2028G>C (p.Val676=)
c.2502G>C (p.Val834=)
c.2361G>C (p.Val787=)
c.2322G>C (p.Val774=)
c.2181G>C (p.Val727=)
 ClinVar dbSNP gnomAD v4
12g.109784425C>TCA6779939TRPV4c.2349G>A (p.Val783=)
c.*1436G>A (n.*1436G>A)
c.2247G>A (p.Val749=)
c.2169G>A (p.Val723=)
c.*732G>A (n.*732G>A)
c.2208G>A (p.Val736=)
c.2028G>A (p.Val676=)
c.2502G>A (p.Val834=)
c.2361G>A (p.Val787=)
c.2322G>A (p.Val774=)
c.2181G>A (p.Val727=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784426A=CA2062557975TRPV4c.2348T= (p.Val783=)
c.*1435T= (n.*1435T=)
c.2246T= (p.Val749=)
c.2168T= (p.Val723=)
c.*731T= (n.*731T=)
c.2207T= (p.Val736=)
c.2027T= (p.Val676=)
c.2501T= (p.Val834=)
c.2360T= (p.Val787=)
c.2321T= (p.Val774=)
c.2180T= (p.Val727=)
12g.109784426A>CCA386648927TRPV4c.2348T>G (p.Val783Gly)
c.*1435T>G (n.*1435T>G)
c.2246T>G (p.Val749Gly)
c.2168T>G (p.Val723Gly)
c.*731T>G (n.*731T>G)
c.2207T>G (p.Val736Gly)
c.2027T>G (p.Val676Gly)
c.2501T>G (p.Val834Gly)
c.2360T>G (p.Val787Gly)
c.2321T>G (p.Val774Gly)
c.2180T>G (p.Val727Gly)
12g.109784426A>GCA386648928TRPV4c.2348T>C (p.Val783Ala)
c.*1435T>C (n.*1435T>C)
c.2246T>C (p.Val749Ala)
c.2168T>C (p.Val723Ala)
c.*731T>C (n.*731T>C)
c.2207T>C (p.Val736Ala)
c.2027T>C (p.Val676Ala)
c.2501T>C (p.Val834Ala)
c.2360T>C (p.Val787Ala)
c.2321T>C (p.Val774Ala)
c.2180T>C (p.Val727Ala)
12g.109784426A>TCA386648929TRPV4c.2348T>A (p.Val783Glu)
c.*1435T>A (n.*1435T>A)
c.2246T>A (p.Val749Glu)
c.2168T>A (p.Val723Glu)
c.*731T>A (n.*731T>A)
c.2207T>A (p.Val736Glu)
c.2027T>A (p.Val676Glu)
c.2501T>A (p.Val834Glu)
c.2360T>A (p.Val787Glu)
c.2321T>A (p.Val774Glu)
c.2180T>A (p.Val727Glu)
 dbSNP gnomAD v2 gnomAD v4
12g.109784427C>ACA386648930TRPV4c.2347G>T (p.Val783Leu)
c.*1434G>T (n.*1434G>T)
c.2245G>T (p.Val749Leu)
c.2167G>T (p.Val723Leu)
c.*730G>T (n.*730G>T)
c.2206G>T (p.Val736Leu)
c.2026G>T (p.Val676Leu)
c.2500G>T (p.Val834Leu)
c.2359G>T (p.Val787Leu)
c.2320G>T (p.Val774Leu)
c.2179G>T (p.Val727Leu)
12g.109784427C=CA2062557977TRPV4c.2347G= (p.Val783=)
c.*1434G= (n.*1434G=)
c.2245G= (p.Val749=)
c.2167G= (p.Val723=)
c.*730G= (n.*730G=)
c.2206G= (p.Val736=)
c.2026G= (p.Val676=)
c.2500G= (p.Val834=)
c.2359G= (p.Val787=)
c.2320G= (p.Val774=)
c.2179G= (p.Val727=)
12g.109784427C>GCA386648931TRPV4c.2347G>C (p.Val783Leu)
c.*1434G>C (n.*1434G>C)
c.2245G>C (p.Val749Leu)
c.2167G>C (p.Val723Leu)
c.*730G>C (n.*730G>C)
c.2206G>C (p.Val736Leu)
c.2026G>C (p.Val676Leu)
c.2500G>C (p.Val834Leu)
c.2359G>C (p.Val787Leu)
c.2320G>C (p.Val774Leu)
c.2179G>C (p.Val727Leu)
12g.109784427C>TCA386648932TRPV4c.2347G>A (p.Val783Met)
c.*1434G>A (n.*1434G>A)
c.2245G>A (p.Val749Met)
c.2167G>A (p.Val723Met)
c.*730G>A (n.*730G>A)
c.2206G>A (p.Val736Met)
c.2026G>A (p.Val676Met)
c.2500G>A (p.Val834Met)
c.2359G>A (p.Val787Met)
c.2320G>A (p.Val774Met)
c.2179G>A (p.Val727Met)
 dbSNP gnomAD v4
12g.109784428C>ACA386648933TRPV4c.2346G>T (p.Glu782Asp)
c.*1433G>T (n.*1433G>T)
c.2244G>T (p.Glu748Asp)
c.2166G>T (p.Glu722Asp)
c.*729G>T (n.*729G>T)
c.2205G>T (p.Glu735Asp)
c.2025G>T (p.Glu675Asp)
c.2499G>T (p.Glu833Asp)
c.2358G>T (p.Glu786Asp)
c.2319G>T (p.Glu773Asp)
c.2178G>T (p.Glu726Asp)
12g.109784428C>GCA386648934TRPV4c.2346G>C (p.Glu782Asp)
c.*1433G>C (n.*1433G>C)
c.2244G>C (p.Glu748Asp)
c.2166G>C (p.Glu722Asp)
c.*729G>C (n.*729G>C)
c.2205G>C (p.Glu735Asp)
c.2025G>C (p.Glu675Asp)
c.2499G>C (p.Glu833Asp)
c.2358G>C (p.Glu786Asp)
c.2319G>C (p.Glu773Asp)
c.2178G>C (p.Glu726Asp)
12g.109784428C>TCA481724071TRPV4c.2346G>A (p.Glu782=)
c.*1433G>A (n.*1433G>A)
c.2244G>A (p.Glu748=)
c.2166G>A (p.Glu722=)
c.*729G>A (n.*729G>A)
c.2205G>A (p.Glu735=)
c.2025G>A (p.Glu675=)
c.2499G>A (p.Glu833=)
c.2358G>A (p.Glu786=)
c.2319G>A (p.Glu773=)
c.2178G>A (p.Glu726=)
12g.109784429T>ACA386648937TRPV4c.2345A>T (p.Glu782Val)
c.*1432A>T (n.*1432A>T)
c.2243A>T (p.Glu748Val)
c.2165A>T (p.Glu722Val)
c.*728A>T (n.*728A>T)
c.2204A>T (p.Glu735Val)
c.2024A>T (p.Glu675Val)
c.2498A>T (p.Glu833Val)
c.2357A>T (p.Glu786Val)
c.2318A>T (p.Glu773Val)
c.2177A>T (p.Glu726Val)
12g.109784429T>CCA386648935TRPV4c.2345A>G (p.Glu782Gly)
c.*1432A>G (n.*1432A>G)
c.2243A>G (p.Glu748Gly)
c.2165A>G (p.Glu722Gly)
c.*728A>G (n.*728A>G)
c.2204A>G (p.Glu735Gly)
c.2024A>G (p.Glu675Gly)
c.2498A>G (p.Glu833Gly)
c.2357A>G (p.Glu786Gly)
c.2318A>G (p.Glu773Gly)
c.2177A>G (p.Glu726Gly)
12g.109784429T>GCA386648936TRPV4c.2345A>C (p.Glu782Ala)
c.*1432A>C (n.*1432A>C)
c.2243A>C (p.Glu748Ala)
c.2165A>C (p.Glu722Ala)
c.*728A>C (n.*728A>C)
c.2204A>C (p.Glu735Ala)
c.2024A>C (p.Glu675Ala)
c.2498A>C (p.Glu833Ala)
c.2357A>C (p.Glu786Ala)
c.2318A>C (p.Glu773Ala)
c.2177A>C (p.Glu726Ala)
12g.109784430C>ACA386648938TRPV4c.2344G>T (p.Glu782Ter)
c.*1431G>T (n.*1431G>T)
c.2242G>T (p.Glu748Ter)
c.2164G>T (p.Glu722Ter)
c.*727G>T (n.*727G>T)
c.2203G>T (p.Glu735Ter)
c.2023G>T (p.Glu675Ter)
c.2497G>T (p.Glu833Ter)
c.2356G>T (p.Glu786Ter)
c.2317G>T (p.Glu773Ter)
c.2176G>T (p.Glu726Ter)
12g.109784430C>GCA386648939TRPV4c.2344G>C (p.Glu782Gln)
c.*1431G>C (n.*1431G>C)
c.2242G>C (p.Glu748Gln)
c.2164G>C (p.Glu722Gln)
c.*727G>C (n.*727G>C)
c.2203G>C (p.Glu735Gln)
c.2023G>C (p.Glu675Gln)
c.2497G>C (p.Glu833Gln)
c.2356G>C (p.Glu786Gln)
c.2317G>C (p.Glu773Gln)
c.2176G>C (p.Glu726Gln)
12g.109784430C>TCA386648940TRPV4c.2344G>A (p.Glu782Lys)
c.*1431G>A (n.*1431G>A)
c.2242G>A (p.Glu748Lys)
c.2164G>A (p.Glu722Lys)
c.*727G>A (n.*727G>A)
c.2203G>A (p.Glu735Lys)
c.2023G>A (p.Glu675Lys)
c.2497G>A (p.Glu833Lys)
c.2356G>A (p.Glu786Lys)
c.2317G>A (p.Glu773Lys)
c.2176G>A (p.Glu726Lys)
 gnomAD v4
12g.109784431A=CA2062557978TRPV4c.2343T= (p.Asp781=)
c.*1430T= (n.*1430T=)
c.2241T= (p.Asp747=)
c.2163T= (p.Asp721=)
c.*726T= (n.*726T=)
c.2202T= (p.Asp734=)
c.2022T= (p.Asp674=)
c.2496T= (p.Asp832=)
c.2355T= (p.Asp785=)
c.2316T= (p.Asp772=)
c.2175T= (p.Asp725=)
12g.109784431A>CCA386648941TRPV4c.2343T>G (p.Asp781Glu)
c.*1430T>G (n.*1430T>G)
c.2241T>G (p.Asp747Glu)
c.2163T>G (p.Asp721Glu)
c.*726T>G (n.*726T>G)
c.2202T>G (p.Asp734Glu)
c.2022T>G (p.Asp674Glu)
c.2496T>G (p.Asp832Glu)
c.2355T>G (p.Asp785Glu)
c.2316T>G (p.Asp772Glu)
c.2175T>G (p.Asp725Glu)
 gnomAD v4
12g.109784431A>GCA481724072TRPV4c.2343T>C (p.Asp781=)
c.*1430T>C (n.*1430T>C)
c.2241T>C (p.Asp747=)
c.2163T>C (p.Asp721=)
c.*726T>C (n.*726T>C)
c.2202T>C (p.Asp734=)
c.2022T>C (p.Asp674=)
c.2496T>C (p.Asp832=)
c.2355T>C (p.Asp785=)
c.2316T>C (p.Asp772=)
c.2175T>C (p.Asp725=)
12g.109784431A>TCA386648942TRPV4c.2343T>A (p.Asp781Glu)
c.*1430T>A (n.*1430T>A)
c.2241T>A (p.Asp747Glu)
c.2163T>A (p.Asp721Glu)
c.*726T>A (n.*726T>A)
c.2202T>A (p.Asp734Glu)
c.2022T>A (p.Asp674Glu)
c.2496T>A (p.Asp832Glu)
c.2355T>A (p.Asp785Glu)
c.2316T>A (p.Asp772Glu)
c.2175T>A (p.Asp725Glu)
 dbSNP
12g.109784432T>ACA386648943TRPV4c.2342A>T (p.Asp781Val)
c.*1429A>T (n.*1429A>T)
c.2240A>T (p.Asp747Val)
c.2162A>T (p.Asp721Val)
c.*725A>T (n.*725A>T)
c.2201A>T (p.Asp734Val)
c.2021A>T (p.Asp674Val)
c.2495A>T (p.Asp832Val)
c.2354A>T (p.Asp785Val)
c.2315A>T (p.Asp772Val)
c.2174A>T (p.Asp725Val)
12g.109784432T>CCA386648944TRPV4c.2342A>G (p.Asp781Gly)
c.*1429A>G (n.*1429A>G)
c.2240A>G (p.Asp747Gly)
c.2162A>G (p.Asp721Gly)
c.*725A>G (n.*725A>G)
c.2201A>G (p.Asp734Gly)
c.2021A>G (p.Asp674Gly)
c.2495A>G (p.Asp832Gly)
c.2354A>G (p.Asp785Gly)
c.2315A>G (p.Asp772Gly)
c.2174A>G (p.Asp725Gly)
 gnomAD v4
12g.109784432T>GCA386648945TRPV4c.2342A>C (p.Asp781Ala)
c.*1429A>C (n.*1429A>C)
c.2240A>C (p.Asp747Ala)
c.2162A>C (p.Asp721Ala)
c.*725A>C (n.*725A>C)
c.2201A>C (p.Asp734Ala)
c.2021A>C (p.Asp674Ala)
c.2495A>C (p.Asp832Ala)
c.2354A>C (p.Asp785Ala)
c.2315A>C (p.Asp772Ala)
c.2174A>C (p.Asp725Ala)
12g.109784433C>ACA386648946TRPV4c.2341G>T (p.Asp781Tyr)
c.*1428G>T (n.*1428G>T)
c.2239G>T (p.Asp747Tyr)
c.2161G>T (p.Asp721Tyr)
c.*724G>T (n.*724G>T)
c.2200G>T (p.Asp734Tyr)
c.2020G>T (p.Asp674Tyr)
c.2494G>T (p.Asp832Tyr)
c.2353G>T (p.Asp785Tyr)
c.2314G>T (p.Asp772Tyr)
c.2173G>T (p.Asp725Tyr)
12g.109784433C>GCA386648947TRPV4c.2341G>C (p.Asp781His)
c.*1428G>C (n.*1428G>C)
c.2239G>C (p.Asp747His)
c.2161G>C (p.Asp721His)
c.*724G>C (n.*724G>C)
c.2200G>C (p.Asp734His)
c.2020G>C (p.Asp674His)
c.2494G>C (p.Asp832His)
c.2353G>C (p.Asp785His)
c.2314G>C (p.Asp772His)
c.2173G>C (p.Asp725His)
12g.109784433C>TCA386648948TRPV4c.2341G>A (p.Asp781Asn)
c.*1428G>A (n.*1428G>A)
c.2239G>A (p.Asp747Asn)
c.2161G>A (p.Asp721Asn)
c.*724G>A (n.*724G>A)
c.2200G>A (p.Asp734Asn)
c.2020G>A (p.Asp674Asn)
c.2494G>A (p.Asp832Asn)
c.2353G>A (p.Asp785Asn)
c.2314G>A (p.Asp772Asn)
c.2173G>A (p.Asp725Asn)
12g.109784434C>ACA481724073TRPV4c.2340G>T (p.Val780=)
c.*1427G>T (n.*1427G>T)
c.2238G>T (p.Val746=)
c.2160G>T (p.Val720=)
c.*723G>T (n.*723G>T)
c.2199G>T (p.Val733=)
c.2019G>T (p.Val673=)
c.2493G>T (p.Val831=)
c.2352G>T (p.Val784=)
c.2313G>T (p.Val771=)
c.2172G>T (p.Val724=)
12g.109784434C>GCA481724074TRPV4c.2340G>C (p.Val780=)
c.*1427G>C (n.*1427G>C)
c.2238G>C (p.Val746=)
c.2160G>C (p.Val720=)
c.*723G>C (n.*723G>C)
c.2199G>C (p.Val733=)
c.2019G>C (p.Val673=)
c.2493G>C (p.Val831=)
c.2352G>C (p.Val784=)
c.2313G>C (p.Val771=)
c.2172G>C (p.Val724=)
12g.109784434C>TCA481724075TRPV4c.2340G>A (p.Val780=)
c.*1427G>A (n.*1427G>A)
c.2238G>A (p.Val746=)
c.2160G>A (p.Val720=)
c.*723G>A (n.*723G>A)
c.2199G>A (p.Val733=)
c.2019G>A (p.Val673=)
c.2493G>A (p.Val831=)
c.2352G>A (p.Val784=)
c.2313G>A (p.Val771=)
c.2172G>A (p.Val724=)
12g.109784435A>CCA386648951TRPV4c.2339T>G (p.Val780Gly)
c.*1426T>G (n.*1426T>G)
c.2237T>G (p.Val746Gly)
c.2159T>G (p.Val720Gly)
c.*722T>G (n.*722T>G)
c.2198T>G (p.Val733Gly)
c.2018T>G (p.Val673Gly)
c.2492T>G (p.Val831Gly)
c.2351T>G (p.Val784Gly)
c.2312T>G (p.Val771Gly)
c.2171T>G (p.Val724Gly)
12g.109784435A>GCA386648950TRPV4c.2339T>C (p.Val780Ala)
c.*1426T>C (n.*1426T>C)
c.2237T>C (p.Val746Ala)
c.2159T>C (p.Val720Ala)
c.*722T>C (n.*722T>C)
c.2198T>C (p.Val733Ala)
c.2018T>C (p.Val673Ala)
c.2492T>C (p.Val831Ala)
c.2351T>C (p.Val784Ala)
c.2312T>C (p.Val771Ala)
c.2171T>C (p.Val724Ala)
 gnomAD v3 gnomAD v4
12g.109784435A>TCA386648949TRPV4c.2339T>A (p.Val780Glu)
c.*1426T>A (n.*1426T>A)
c.2237T>A (p.Val746Glu)
c.2159T>A (p.Val720Glu)
c.*722T>A (n.*722T>A)
c.2198T>A (p.Val733Glu)
c.2018T>A (p.Val673Glu)
c.2492T>A (p.Val831Glu)
c.2351T>A (p.Val784Glu)
c.2312T>A (p.Val771Glu)
c.2171T>A (p.Val724Glu)
12g.109784436C>ACA386648952TRPV4c.2338G>T (p.Val780Leu)
c.*1425G>T (n.*1425G>T)
c.2236G>T (p.Val746Leu)
c.2158G>T (p.Val720Leu)
c.*721G>T (n.*721G>T)
c.2197G>T (p.Val733Leu)
c.2017G>T (p.Val673Leu)
c.2491G>T (p.Val831Leu)
c.2350G>T (p.Val784Leu)
c.2311G>T (p.Val771Leu)
c.2170G>T (p.Val724Leu)
 ClinVar
12g.109784436C=CA2062557980TRPV4c.2338G= (p.Val780=)
c.*1425G= (n.*1425G=)
c.2236G= (p.Val746=)
c.2158G= (p.Val720=)
c.*721G= (n.*721G=)
c.2197G= (p.Val733=)
c.2017G= (p.Val673=)
c.2491G= (p.Val831=)
c.2350G= (p.Val784=)
c.2311G= (p.Val771=)
c.2170G= (p.Val724=)
12g.109784436C>GCA386648953TRPV4c.2338G>C (p.Val780Leu)
c.*1425G>C (n.*1425G>C)
c.2236G>C (p.Val746Leu)
c.2158G>C (p.Val720Leu)
c.*721G>C (n.*721G>C)
c.2197G>C (p.Val733Leu)
c.2017G>C (p.Val673Leu)
c.2491G>C (p.Val831Leu)
c.2350G>C (p.Val784Leu)
c.2311G>C (p.Val771Leu)
c.2170G>C (p.Val724Leu)
12g.109784436C>TCA243494856TRPV4c.2338G>A (p.Val780Met)
c.*1425G>A (n.*1425G>A)
c.2236G>A (p.Val746Met)
c.2158G>A (p.Val720Met)
c.*721G>A (n.*721G>A)
c.2197G>A (p.Val733Met)
c.2017G>A (p.Val673Met)
c.2491G>A (p.Val831Met)
c.2350G>A (p.Val784Met)
c.2311G>A (p.Val771Met)
c.2170G>A (p.Val724Met)
 ClinVar dbSNP gnomAD v4
12g.109784437C>ACA243494859TRPV4c.2337G>T (p.Arg779Ser)
c.*1424G>T (n.*1424G>T)
c.2235G>T (p.Arg745Ser)
c.2157G>T (p.Arg719Ser)
c.*720G>T (n.*720G>T)
c.2196G>T (p.Arg732Ser)
c.2016G>T (p.Arg672Ser)
c.2490G>T (p.Arg830Ser)
c.2349G>T (p.Arg783Ser)
c.2310G>T (p.Arg770Ser)
c.2169G>T (p.Arg723Ser)
 dbSNP gnomAD v4
12g.109784437C=CA2062557982TRPV4c.2337G= (p.Arg779=)
c.*1424G= (n.*1424G=)
c.2235G= (p.Arg745=)
c.2157G= (p.Arg719=)
c.*720G= (n.*720G=)
c.2196G= (p.Arg732=)
c.2016G= (p.Arg672=)
c.2490G= (p.Arg830=)
c.2349G= (p.Arg783=)
c.2310G= (p.Arg770=)
c.2169G= (p.Arg723=)
12g.109784437C>GCA386648954TRPV4c.2337G>C (p.Arg779Ser)
c.*1424G>C (n.*1424G>C)
c.2235G>C (p.Arg745Ser)
c.2157G>C (p.Arg719Ser)
c.*720G>C (n.*720G>C)
c.2196G>C (p.Arg732Ser)
c.2016G>C (p.Arg672Ser)
c.2490G>C (p.Arg830Ser)
c.2349G>C (p.Arg783Ser)
c.2310G>C (p.Arg770Ser)
c.2169G>C (p.Arg723Ser)
12g.109784437C>TCA481724076TRPV4c.2337G>A (p.Arg779=)
c.*1424G>A (n.*1424G>A)
c.2235G>A (p.Arg745=)
c.2157G>A (p.Arg719=)
c.*720G>A (n.*720G>A)
c.2196G>A (p.Arg732=)
c.2016G>A (p.Arg672=)
c.2490G>A (p.Arg830=)
c.2349G>A (p.Arg783=)
c.2310G>A (p.Arg770=)
c.2169G>A (p.Arg723=)
 COSMIC
12g.109784438C>ACA386648955TRPV4c.2337-1G>T (n.2337-1G>T)
c.*1424-1G>T (n.*1424-1G>T)
c.2235-1G>T (n.2235-1G>T)
c.2157-1G>T (n.2157-1G>T)
c.*720-1G>T (n.*720-1G>T)
c.2196-1G>T (n.2196-1G>T)
c.2016-1G>T (n.2016-1G>T)
c.2490-1G>T (n.2490-1G>T)
c.2349-1G>T (n.2349-1G>T)
c.2310-1G>T (n.2310-1G>T)
c.2169-1G>T (n.2169-1G>T)
12g.109784438C>GCA386648956TRPV4c.2337-1G>C (n.2337-1G>C)
c.*1424-1G>C (n.*1424-1G>C)
c.2235-1G>C (n.2235-1G>C)
c.2157-1G>C (n.2157-1G>C)
c.*720-1G>C (n.*720-1G>C)
c.2196-1G>C (n.2196-1G>C)
c.2016-1G>C (n.2016-1G>C)
c.2490-1G>C (n.2490-1G>C)
c.2349-1G>C (n.2349-1G>C)
c.2310-1G>C (n.2310-1G>C)
c.2169-1G>C (n.2169-1G>C)
12g.109784438C>TCA386648957TRPV4c.2337-1G>A (n.2337-1G>A)
c.*1424-1G>A (n.*1424-1G>A)
c.2235-1G>A (n.2235-1G>A)
c.2157-1G>A (n.2157-1G>A)
c.*720-1G>A (n.*720-1G>A)
c.2196-1G>A (n.2196-1G>A)
c.2016-1G>A (n.2016-1G>A)
c.2490-1G>A (n.2490-1G>A)
c.2349-1G>A (n.2349-1G>A)
c.2310-1G>A (n.2310-1G>A)
c.2169-1G>A (n.2169-1G>A)
12g.109784439T>ACA386648958TRPV4c.2337-2A>T (n.2337-2A>T)
c.*1424-2A>T (n.*1424-2A>T)
c.2235-2A>T (n.2235-2A>T)
c.2157-2A>T (n.2157-2A>T)
c.*720-2A>T (n.*720-2A>T)
c.2196-2A>T (n.2196-2A>T)
c.2016-2A>T (n.2016-2A>T)
c.2490-2A>T (n.2490-2A>T)
c.2349-2A>T (n.2349-2A>T)
c.2310-2A>T (n.2310-2A>T)
c.2169-2A>T (n.2169-2A>T)
12g.109784439T>CCA386648959TRPV4c.2337-2A>G (n.2337-2A>G)
c.*1424-2A>G (n.*1424-2A>G)
c.2235-2A>G (n.2235-2A>G)
c.2157-2A>G (n.2157-2A>G)
c.*720-2A>G (n.*720-2A>G)
c.2196-2A>G (n.2196-2A>G)
c.2016-2A>G (n.2016-2A>G)
c.2490-2A>G (n.2490-2A>G)
c.2349-2A>G (n.2349-2A>G)
c.2310-2A>G (n.2310-2A>G)
c.2169-2A>G (n.2169-2A>G)
12g.109784439T>GCA386648960TRPV4c.2337-2A>C (n.2337-2A>C)
c.*1424-2A>C (n.*1424-2A>C)
c.2235-2A>C (n.2235-2A>C)
c.2157-2A>C (n.2157-2A>C)
c.*720-2A>C (n.*720-2A>C)
c.2196-2A>C (n.2196-2A>C)
c.2016-2A>C (n.2016-2A>C)
c.2490-2A>C (n.2490-2A>C)
c.2349-2A>C (n.2349-2A>C)
c.2310-2A>C (n.2310-2A>C)
c.2169-2A>C (n.2169-2A>C)
 dbSNP gnomAD v4
12g.109784439T=CA2062557983TRPV4c.2337-2A= (n.2337-2A=)
c.*1424-2A= (n.*1424-2A=)
c.2235-2A= (n.2235-2A=)
c.2157-2A= (n.2157-2A=)
c.*720-2A= (n.*720-2A=)
c.2196-2A= (n.2196-2A=)
c.2016-2A= (n.2016-2A=)
c.2490-2A= (n.2490-2A=)
c.2349-2A= (n.2349-2A=)
c.2310-2A= (n.2310-2A=)
c.2169-2A= (n.2169-2A=)
12g.109784440G>ACA6779940TRPV4c.2337-3C>T (n.2337-3C>T)
c.*1424-3C>T (n.*1424-3C>T)
c.2235-3C>T (n.2235-3C>T)
c.2157-3C>T (n.2157-3C>T)
c.*720-3C>T (n.*720-3C>T)
c.2196-3C>T (n.2196-3C>T)
c.2016-3C>T (n.2016-3C>T)
c.2490-3C>T (n.2490-3C>T)
c.2349-3C>T (n.2349-3C>T)
c.2310-3C>T (n.2310-3C>T)
c.2169-3C>T (n.2169-3C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784440G>CCA683466085TRPV4c.2337-3C>G (n.2337-3C>G)
c.*1424-3C>G (n.*1424-3C>G)
c.2235-3C>G (n.2235-3C>G)
c.2157-3C>G (n.2157-3C>G)
c.*720-3C>G (n.*720-3C>G)
c.2196-3C>G (n.2196-3C>G)
c.2016-3C>G (n.2016-3C>G)
c.2490-3C>G (n.2490-3C>G)
c.2349-3C>G (n.2349-3C>G)
c.2310-3C>G (n.2310-3C>G)
c.2169-3C>G (n.2169-3C>G)
 dbSNP gnomAD v3 gnomAD v4
12g.109784440G=CA2062557985TRPV4c.2337-3C= (n.2337-3C=)
c.*1424-3C= (n.*1424-3C=)
c.2235-3C= (n.2235-3C=)
c.2157-3C= (n.2157-3C=)
c.*720-3C= (n.*720-3C=)
c.2196-3C= (n.2196-3C=)
c.2016-3C= (n.2016-3C=)
c.2490-3C= (n.2490-3C=)
c.2349-3C= (n.2349-3C=)
c.2310-3C= (n.2310-3C=)
c.2169-3C= (n.2169-3C=)
12g.109784441G=CA2062557986TRPV4c.2337-4C= (n.2337-4C=)
c.*1424-4C= (n.*1424-4C=)
c.2235-4C= (n.2235-4C=)
c.2157-4C= (n.2157-4C=)
c.*720-4C= (n.*720-4C=)
c.2196-4C= (n.2196-4C=)
c.2016-4C= (n.2016-4C=)
c.2490-4C= (n.2490-4C=)
c.2349-4C= (n.2349-4C=)
c.2310-4C= (n.2310-4C=)
c.2169-4C= (n.2169-4C=)
12g.109784441G>TCA6779941TRPV4c.2337-4C>A (n.2337-4C>A)
c.*1424-4C>A (n.*1424-4C>A)
c.2235-4C>A (n.2235-4C>A)
c.2157-4C>A (n.2157-4C>A)
c.*720-4C>A (n.*720-4C>A)
c.2196-4C>A (n.2196-4C>A)
c.2016-4C>A (n.2016-4C>A)
c.2490-4C>A (n.2490-4C>A)
c.2349-4C>A (n.2349-4C>A)
c.2310-4C>A (n.2310-4C>A)
c.2169-4C>A (n.2169-4C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784442C>TCA2620826311TRPV4c.2337-5G>A (n.2337-5G>A)
c.*1424-5G>A (n.*1424-5G>A)
c.2235-5G>A (n.2235-5G>A)
c.2157-5G>A (n.2157-5G>A)
c.*720-5G>A (n.*720-5G>A)
c.2196-5G>A (n.2196-5G>A)
c.2016-5G>A (n.2016-5G>A)
c.2490-5G>A (n.2490-5G>A)
c.2349-5G>A (n.2349-5G>A)
c.2310-5G>A (n.2310-5G>A)
c.2169-5G>A (n.2169-5G>A)
 gnomAD v4
12g.109784443A=CA2062557988TRPV4c.2337-6T= (n.2337-6T=)
c.*1424-6T= (n.*1424-6T=)
c.2235-6T= (n.2235-6T=)
c.2157-6T= (n.2157-6T=)
c.*720-6T= (n.*720-6T=)
c.2196-6T= (n.2196-6T=)
c.2016-6T= (n.2016-6T=)
c.2490-6T= (n.2490-6T=)
c.2349-6T= (n.2349-6T=)
c.2310-6T= (n.2310-6T=)
c.2169-6T= (n.2169-6T=)
12g.109784443A>GCA6779942TRPV4c.2337-6T>C (n.2337-6T>C)
c.*1424-6T>C (n.*1424-6T>C)
c.2235-6T>C (n.2235-6T>C)
c.2157-6T>C (n.2157-6T>C)
c.*720-6T>C (n.*720-6T>C)
c.2196-6T>C (n.2196-6T>C)
c.2016-6T>C (n.2016-6T>C)
c.2490-6T>C (n.2490-6T>C)
c.2349-6T>C (n.2349-6T>C)
c.2310-6T>C (n.2310-6T>C)
c.2169-6T>C (n.2169-6T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784446G>ACA243494889TRPV4c.2337-9C>T (n.2337-9C>T)
c.*1424-9C>T (n.*1424-9C>T)
c.2235-9C>T (n.2235-9C>T)
c.2157-9C>T (n.2157-9C>T)
c.*720-9C>T (n.*720-9C>T)
c.2196-9C>T (n.2196-9C>T)
c.2016-9C>T (n.2016-9C>T)
c.2490-9C>T (n.2490-9C>T)
c.2349-9C>T (n.2349-9C>T)
c.2310-9C>T (n.2310-9C>T)
c.2169-9C>T (n.2169-9C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109784446G=CA2062557989TRPV4c.2337-9C= (n.2337-9C=)
c.*1424-9C= (n.*1424-9C=)
c.2235-9C= (n.2235-9C=)
c.2157-9C= (n.2157-9C=)
c.*720-9C= (n.*720-9C=)
c.2196-9C= (n.2196-9C=)
c.2016-9C= (n.2016-9C=)
c.2490-9C= (n.2490-9C=)
c.2349-9C= (n.2349-9C=)
c.2310-9C= (n.2310-9C=)
c.2169-9C= (n.2169-9C=)
12g.109784449C>ACA2620826320TRPV4c.2337-12G>T (n.2337-12G>T)
c.*1424-12G>T (n.*1424-12G>T)
c.2235-12G>T (n.2235-12G>T)
c.2157-12G>T (n.2157-12G>T)
c.*720-12G>T (n.*720-12G>T)
c.2196-12G>T (n.2196-12G>T)
c.2016-12G>T (n.2016-12G>T)
c.2490-12G>T (n.2490-12G>T)
c.2349-12G>T (n.2349-12G>T)
c.2310-12G>T (n.2310-12G>T)
c.2169-12G>T (n.2169-12G>T)
 gnomAD v4
12g.109784450A=CA2062557991TRPV4c.2337-13T= (n.2337-13T=)
c.*1424-13T= (n.*1424-13T=)
c.2235-13T= (n.2235-13T=)
c.2157-13T= (n.2157-13T=)
c.*720-13T= (n.*720-13T=)
c.2196-13T= (n.2196-13T=)
c.2016-13T= (n.2016-13T=)
c.2490-13T= (n.2490-13T=)
c.2349-13T= (n.2349-13T=)
c.2310-13T= (n.2310-13T=)
c.2169-13T= (n.2169-13T=)
12g.109784450A>TCA243494895TRPV4c.2337-13T>A (n.2337-13T>A)
c.*1424-13T>A (n.*1424-13T>A)
c.2235-13T>A (n.2235-13T>A)
c.2157-13T>A (n.2157-13T>A)
c.*720-13T>A (n.*720-13T>A)
c.2196-13T>A (n.2196-13T>A)
c.2016-13T>A (n.2016-13T>A)
c.2490-13T>A (n.2490-13T>A)
c.2349-13T>A (n.2349-13T>A)
c.2310-13T>A (n.2310-13T>A)
c.2169-13T>A (n.2169-13T>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.109784452G>ACA2739277297TRPV4c.2337-15C>T (n.2337-15C>T)
c.*1424-15C>T (n.*1424-15C>T)
c.2235-15C>T (n.2235-15C>T)
c.2157-15C>T (n.2157-15C>T)
c.*720-15C>T (n.*720-15C>T)
c.2196-15C>T (n.2196-15C>T)
c.2016-15C>T (n.2016-15C>T)
c.2490-15C>T (n.2490-15C>T)
c.2349-15C>T (n.2349-15C>T)
c.2310-15C>T (n.2310-15C>T)
c.2169-15C>T (n.2169-15C>T)
 ClinVar
12g.109784453C=CA2062557993TRPV4c.2337-16G= (n.2337-16G=)
c.*1424-16G= (n.*1424-16G=)
c.2235-16G= (n.2235-16G=)
c.2157-16G= (n.2157-16G=)
c.*720-16G= (n.*720-16G=)
c.2196-16G= (n.2196-16G=)
c.2016-16G= (n.2016-16G=)
c.2490-16G= (n.2490-16G=)
c.2349-16G= (n.2349-16G=)
c.2310-16G= (n.2310-16G=)
c.2169-16G= (n.2169-16G=)
12g.109784453C>TCA6779943TRPV4c.2337-16G>A (n.2337-16G>A)
c.*1424-16G>A (n.*1424-16G>A)
c.2235-16G>A (n.2235-16G>A)
c.2157-16G>A (n.2157-16G>A)
c.*720-16G>A (n.*720-16G>A)
c.2196-16G>A (n.2196-16G>A)
c.2016-16G>A (n.2016-16G>A)
c.2490-16G>A (n.2490-16G>A)
c.2349-16G>A (n.2349-16G>A)
c.2310-16G>A (n.2310-16G>A)
c.2169-16G>A (n.2169-16G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784456A=CA2062557995TRPV4c.2337-19T= (n.2337-19T=)
c.*1424-19T= (n.*1424-19T=)
c.2235-19T= (n.2235-19T=)
c.2157-19T= (n.2157-19T=)
c.*720-19T= (n.*720-19T=)
c.2196-19T= (n.2196-19T=)
c.2016-19T= (n.2016-19T=)
c.2490-19T= (n.2490-19T=)
c.2349-19T= (n.2349-19T=)
c.2310-19T= (n.2310-19T=)
c.2169-19T= (n.2169-19T=)
12g.109784456A>CCA243494898TRPV4c.2337-19T>G (n.2337-19T>G)
c.*1424-19T>G (n.*1424-19T>G)
c.2235-19T>G (n.2235-19T>G)
c.2157-19T>G (n.2157-19T>G)
c.*720-19T>G (n.*720-19T>G)
c.2196-19T>G (n.2196-19T>G)
c.2016-19T>G (n.2016-19T>G)
c.2490-19T>G (n.2490-19T>G)
c.2349-19T>G (n.2349-19T>G)
c.2310-19T>G (n.2310-19T>G)
c.2169-19T>G (n.2169-19T>G)
 dbSNP gnomAD v3 gnomAD v4
12g.109784456A>GCA2575286182TRPV4c.2337-19T>C (n.2337-19T>C)
c.*1424-19T>C (n.*1424-19T>C)
c.2235-19T>C (n.2235-19T>C)
c.2157-19T>C (n.2157-19T>C)
c.*720-19T>C (n.*720-19T>C)
c.2196-19T>C (n.2196-19T>C)
c.2016-19T>C (n.2016-19T>C)
c.2490-19T>C (n.2490-19T>C)
c.2349-19T>C (n.2349-19T>C)
c.2310-19T>C (n.2310-19T>C)
c.2169-19T>C (n.2169-19T>C)
 gnomAD v4
12g.109784457G>TCA2620826330TRPV4c.2337-20C>A (n.2337-20C>A)
c.*1424-20C>A (n.*1424-20C>A)
c.2235-20C>A (n.2235-20C>A)
c.2157-20C>A (n.2157-20C>A)
c.*720-20C>A (n.*720-20C>A)
c.2196-20C>A (n.2196-20C>A)
c.2016-20C>A (n.2016-20C>A)
c.2490-20C>A (n.2490-20C>A)
c.2349-20C>A (n.2349-20C>A)
c.2310-20C>A (n.2310-20C>A)
c.2169-20C>A (n.2169-20C>A)
 gnomAD v4
12g.109784458G>ACA607297437TRPV4c.2337-21C>T (n.2337-21C>T)
c.*1424-21C>T (n.*1424-21C>T)
c.2235-21C>T (n.2235-21C>T)
c.2157-21C>T (n.2157-21C>T)
c.*720-21C>T (n.*720-21C>T)
c.2196-21C>T (n.2196-21C>T)
c.2016-21C>T (n.2016-21C>T)
c.2490-21C>T (n.2490-21C>T)
c.2349-21C>T (n.2349-21C>T)
c.2310-21C>T (n.2310-21C>T)
c.2169-21C>T (n.2169-21C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109784458G>CCA2620826334TRPV4c.2337-21C>G (n.2337-21C>G)
c.*1424-21C>G (n.*1424-21C>G)
c.2235-21C>G (n.2235-21C>G)
c.2157-21C>G (n.2157-21C>G)
c.*720-21C>G (n.*720-21C>G)
c.2196-21C>G (n.2196-21C>G)
c.2016-21C>G (n.2016-21C>G)
c.2490-21C>G (n.2490-21C>G)
c.2349-21C>G (n.2349-21C>G)
c.2310-21C>G (n.2310-21C>G)
c.2169-21C>G (n.2169-21C>G)
 gnomAD v4
12g.109784458G=CA2062557996TRPV4c.2337-21C= (n.2337-21C=)
c.*1424-21C= (n.*1424-21C=)
c.2235-21C= (n.2235-21C=)
c.2157-21C= (n.2157-21C=)
c.*720-21C= (n.*720-21C=)
c.2196-21C= (n.2196-21C=)
c.2016-21C= (n.2016-21C=)
c.2490-21C= (n.2490-21C=)
c.2349-21C= (n.2349-21C=)
c.2310-21C= (n.2310-21C=)
c.2169-21C= (n.2169-21C=)
12g.109784458G>TCA2620826336TRPV4c.2337-21C>A (n.2337-21C>A)
c.*1424-21C>A (n.*1424-21C>A)
c.2235-21C>A (n.2235-21C>A)
c.2157-21C>A (n.2157-21C>A)
c.*720-21C>A (n.*720-21C>A)
c.2196-21C>A (n.2196-21C>A)
c.2016-21C>A (n.2016-21C>A)
c.2490-21C>A (n.2490-21C>A)
c.2349-21C>A (n.2349-21C>A)
c.2310-21C>A (n.2310-21C>A)
c.2169-21C>A (n.2169-21C>A)
 gnomAD v4
12g.109784459G>ACA2620826341TRPV4c.2337-22C>T (n.2337-22C>T)
c.*1424-22C>T (n.*1424-22C>T)
c.2235-22C>T (n.2235-22C>T)
c.2157-22C>T (n.2157-22C>T)
c.*720-22C>T (n.*720-22C>T)
c.2196-22C>T (n.2196-22C>T)
c.2016-22C>T (n.2016-22C>T)
c.2490-22C>T (n.2490-22C>T)
c.2349-22C>T (n.2349-22C>T)
c.2310-22C>T (n.2310-22C>T)
c.2169-22C>T (n.2169-22C>T)
 gnomAD v4
12g.109784460delCA2620826344TRPV4c.2337-23del (n.2337-23del)
c.*1424-23del (n.*1424-23del)
c.2235-23del (n.2235-23del)
c.2157-23del (n.2157-23del)
c.*720-23del (n.*720-23del)
c.2196-23del (n.2196-23del)
c.2016-23del (n.2016-23del)
c.2490-23del (n.2490-23del)
c.2349-23del (n.2349-23del)
c.2310-23del (n.2310-23del)
c.2169-23del (n.2169-23del)
 gnomAD v4
12g.109784460T>ACA2620826343TRPV4c.2337-23A>T (n.2337-23A>T)
c.*1424-23A>T (n.*1424-23A>T)
c.2235-23A>T (n.2235-23A>T)
c.2157-23A>T (n.2157-23A>T)
c.*720-23A>T (n.*720-23A>T)
c.2196-23A>T (n.2196-23A>T)
c.2016-23A>T (n.2016-23A>T)
c.2490-23A>T (n.2490-23A>T)
c.2349-23A>T (n.2349-23A>T)
c.2310-23A>T (n.2310-23A>T)
c.2169-23A>T (n.2169-23A>T)
 gnomAD v4
12g.109784461C>ACA2537928941TRPV4c.2337-24G>T (n.2337-24G>T)
c.*1424-24G>T (n.*1424-24G>T)
c.2235-24G>T (n.2235-24G>T)
c.2157-24G>T (n.2157-24G>T)
c.*720-24G>T (n.*720-24G>T)
c.2196-24G>T (n.2196-24G>T)
c.2016-24G>T (n.2016-24G>T)
c.2490-24G>T (n.2490-24G>T)
c.2349-24G>T (n.2349-24G>T)
c.2310-24G>T (n.2310-24G>T)
c.2169-24G>T (n.2169-24G>T)
12g.109784461C=CA2062557997TRPV4c.2337-24G= (n.2337-24G=)
c.*1424-24G= (n.*1424-24G=)
c.2235-24G= (n.2235-24G=)
c.2157-24G= (n.2157-24G=)
c.*720-24G= (n.*720-24G=)
c.2196-24G= (n.2196-24G=)
c.2016-24G= (n.2016-24G=)
c.2490-24G= (n.2490-24G=)
c.2349-24G= (n.2349-24G=)
c.2310-24G= (n.2310-24G=)
c.2169-24G= (n.2169-24G=)
12g.109784461C>TCA683466116TRPV4c.2337-24G>A (n.2337-24G>A)
c.*1424-24G>A (n.*1424-24G>A)
c.2235-24G>A (n.2235-24G>A)
c.2157-24G>A (n.2157-24G>A)
c.*720-24G>A (n.*720-24G>A)
c.2196-24G>A (n.2196-24G>A)
c.2016-24G>A (n.2016-24G>A)
c.2490-24G>A (n.2490-24G>A)
c.2349-24G>A (n.2349-24G>A)
c.2310-24G>A (n.2310-24G>A)
c.2169-24G>A (n.2169-24G>A)
 dbSNP
12g.109784464G>ACA683466123TRPV4c.2337-27C>T (n.2337-27C>T)
c.*1424-27C>T (n.*1424-27C>T)
c.2235-27C>T (n.2235-27C>T)
c.2157-27C>T (n.2157-27C>T)
c.*720-27C>T (n.*720-27C>T)
c.2196-27C>T (n.2196-27C>T)
c.2016-27C>T (n.2016-27C>T)
c.2490-27C>T (n.2490-27C>T)
c.2349-27C>T (n.2349-27C>T)
c.2310-27C>T (n.2310-27C>T)
c.2169-27C>T (n.2169-27C>T)
 dbSNP gnomAD v4
12g.109784464G=CA2062557998TRPV4c.2337-27C= (n.2337-27C=)
c.*1424-27C= (n.*1424-27C=)
c.2235-27C= (n.2235-27C=)
c.2157-27C= (n.2157-27C=)
c.*720-27C= (n.*720-27C=)
c.2196-27C= (n.2196-27C=)
c.2016-27C= (n.2016-27C=)
c.2490-27C= (n.2490-27C=)
c.2349-27C= (n.2349-27C=)
c.2310-27C= (n.2310-27C=)
c.2169-27C= (n.2169-27C=)
12g.109784464G>TCA2620826345TRPV4c.2337-27C>A (n.2337-27C>A)
c.*1424-27C>A (n.*1424-27C>A)
c.2235-27C>A (n.2235-27C>A)
c.2157-27C>A (n.2157-27C>A)
c.*720-27C>A (n.*720-27C>A)
c.2196-27C>A (n.2196-27C>A)
c.2016-27C>A (n.2016-27C>A)
c.2490-27C>A (n.2490-27C>A)
c.2349-27C>A (n.2349-27C>A)
c.2310-27C>A (n.2310-27C>A)
c.2169-27C>A (n.2169-27C>A)
 gnomAD v4
12g.109784465G>ACA607297438TRPV4c.2337-28C>T (n.2337-28C>T)
c.*1424-28C>T (n.*1424-28C>T)
c.2235-28C>T (n.2235-28C>T)
c.2157-28C>T (n.2157-28C>T)
c.*720-28C>T (n.*720-28C>T)
c.2196-28C>T (n.2196-28C>T)
c.2016-28C>T (n.2016-28C>T)
c.2490-28C>T (n.2490-28C>T)
c.2349-28C>T (n.2349-28C>T)
c.2310-28C>T (n.2310-28C>T)
c.2169-28C>T (n.2169-28C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109784465G=CA2062558000TRPV4c.2337-28C= (n.2337-28C=)
c.*1424-28C= (n.*1424-28C=)
c.2235-28C= (n.2235-28C=)
c.2157-28C= (n.2157-28C=)
c.*720-28C= (n.*720-28C=)
c.2196-28C= (n.2196-28C=)
c.2016-28C= (n.2016-28C=)
c.2490-28C= (n.2490-28C=)
c.2349-28C= (n.2349-28C=)
c.2310-28C= (n.2310-28C=)
c.2169-28C= (n.2169-28C=)
12g.109784466G>ACA2620826347TRPV4c.2337-29C>T (n.2337-29C>T)
c.*1424-29C>T (n.*1424-29C>T)
c.2235-29C>T (n.2235-29C>T)
c.2157-29C>T (n.2157-29C>T)
c.*720-29C>T (n.*720-29C>T)
c.2196-29C>T (n.2196-29C>T)
c.2016-29C>T (n.2016-29C>T)
c.2490-29C>T (n.2490-29C>T)
c.2349-29C>T (n.2349-29C>T)
c.2310-29C>T (n.2310-29C>T)
c.2169-29C>T (n.2169-29C>T)
 gnomAD v4
12g.109784468A>TCA2620826349TRPV4c.2337-31T>A (n.2337-31T>A)
c.*1424-31T>A (n.*1424-31T>A)
c.2235-31T>A (n.2235-31T>A)
c.2157-31T>A (n.2157-31T>A)
c.*720-31T>A (n.*720-31T>A)
c.2196-31T>A (n.2196-31T>A)
c.2016-31T>A (n.2016-31T>A)
c.2490-31T>A (n.2490-31T>A)
c.2349-31T>A (n.2349-31T>A)
c.2310-31T>A (n.2310-31T>A)
c.2169-31T>A (n.2169-31T>A)
 gnomAD v4
12g.109784469A>CCA2620826350TRPV4c.2337-32T>G (n.2337-32T>G)
c.*1424-32T>G (n.*1424-32T>G)
c.2235-32T>G (n.2235-32T>G)
c.2157-32T>G (n.2157-32T>G)
c.*720-32T>G (n.*720-32T>G)
c.2196-32T>G (n.2196-32T>G)
c.2016-32T>G (n.2016-32T>G)
c.2490-32T>G (n.2490-32T>G)
c.2349-32T>G (n.2349-32T>G)
c.2310-32T>G (n.2310-32T>G)
c.2169-32T>G (n.2169-32T>G)
 dbSNP gnomAD v4
12g.109784469A>GCA2727266776TRPV4c.2337-32T>C (n.2337-32T>C)
c.*1424-32T>C (n.*1424-32T>C)
c.2235-32T>C (n.2235-32T>C)
c.2157-32T>C (n.2157-32T>C)
c.*720-32T>C (n.*720-32T>C)
c.2196-32T>C (n.2196-32T>C)
c.2016-32T>C (n.2016-32T>C)
c.2490-32T>C (n.2490-32T>C)
c.2349-32T>C (n.2349-32T>C)
c.2310-32T>C (n.2310-32T>C)
c.2169-32T>C (n.2169-32T>C)
 dbSNP
12g.109784469A>TCA2620826351TRPV4c.2337-32T>A (n.2337-32T>A)
c.*1424-32T>A (n.*1424-32T>A)
c.2235-32T>A (n.2235-32T>A)
c.2157-32T>A (n.2157-32T>A)
c.*720-32T>A (n.*720-32T>A)
c.2196-32T>A (n.2196-32T>A)
c.2016-32T>A (n.2016-32T>A)
c.2490-32T>A (n.2490-32T>A)
c.2349-32T>A (n.2349-32T>A)
c.2310-32T>A (n.2310-32T>A)
c.2169-32T>A (n.2169-32T>A)
 gnomAD v4
12g.109784470C>ACA6779944TRPV4c.2337-33G>T (n.2337-33G>T)
c.*1424-33G>T (n.*1424-33G>T)
c.2235-33G>T (n.2235-33G>T)
c.2157-33G>T (n.2157-33G>T)
c.*720-33G>T (n.*720-33G>T)
c.2196-33G>T (n.2196-33G>T)
c.2016-33G>T (n.2016-33G>T)
c.2490-33G>T (n.2490-33G>T)
c.2349-33G>T (n.2349-33G>T)
c.2310-33G>T (n.2310-33G>T)
c.2169-33G>T (n.2169-33G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784470C=CA2062558001TRPV4c.2337-33G= (n.2337-33G=)
c.*1424-33G= (n.*1424-33G=)
c.2235-33G= (n.2235-33G=)
c.2157-33G= (n.2157-33G=)
c.*720-33G= (n.*720-33G=)
c.2196-33G= (n.2196-33G=)
c.2016-33G= (n.2016-33G=)
c.2490-33G= (n.2490-33G=)
c.2349-33G= (n.2349-33G=)
c.2310-33G= (n.2310-33G=)
c.2169-33G= (n.2169-33G=)
12g.109784470C>GCA2620826359TRPV4c.2337-33G>C (n.2337-33G>C)
c.*1424-33G>C (n.*1424-33G>C)
c.2235-33G>C (n.2235-33G>C)
c.2157-33G>C (n.2157-33G>C)
c.*720-33G>C (n.*720-33G>C)
c.2196-33G>C (n.2196-33G>C)
c.2016-33G>C (n.2016-33G>C)
c.2490-33G>C (n.2490-33G>C)
c.2349-33G>C (n.2349-33G>C)
c.2310-33G>C (n.2310-33G>C)
c.2169-33G>C (n.2169-33G>C)
 gnomAD v4
12g.109784473C>TCA2620826361TRPV4c.2337-36G>A (n.2337-36G>A)
c.*1424-36G>A (n.*1424-36G>A)
c.2235-36G>A (n.2235-36G>A)
c.2157-36G>A (n.2157-36G>A)
c.*720-36G>A (n.*720-36G>A)
c.2196-36G>A (n.2196-36G>A)
c.2016-36G>A (n.2016-36G>A)
c.2490-36G>A (n.2490-36G>A)
c.2349-36G>A (n.2349-36G>A)
c.2310-36G>A (n.2310-36G>A)
c.2169-36G>A (n.2169-36G>A)
 gnomAD v4
12g.109784474T>CCA6779945TRPV4c.2337-37A>G (n.2337-37A>G)
c.*1424-37A>G (n.*1424-37A>G)
c.2235-37A>G (n.2235-37A>G)
c.2157-37A>G (n.2157-37A>G)
c.*720-37A>G (n.*720-37A>G)
c.2196-37A>G (n.2196-37A>G)
c.2016-37A>G (n.2016-37A>G)
c.2490-37A>G (n.2490-37A>G)
c.2349-37A>G (n.2349-37A>G)
c.2310-37A>G (n.2310-37A>G)
c.2169-37A>G (n.2169-37A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784474T=CA2062558003TRPV4c.2337-37A= (n.2337-37A=)
c.*1424-37A= (n.*1424-37A=)
c.2235-37A= (n.2235-37A=)
c.2157-37A= (n.2157-37A=)
c.*720-37A= (n.*720-37A=)
c.2196-37A= (n.2196-37A=)
c.2016-37A= (n.2016-37A=)
c.2490-37A= (n.2490-37A=)
c.2349-37A= (n.2349-37A=)
c.2310-37A= (n.2310-37A=)
c.2169-37A= (n.2169-37A=)
12g.109784475C=CA2062558004TRPV4c.2337-38G= (n.2337-38G=)
c.*1424-38G= (n.*1424-38G=)
c.2235-38G= (n.2235-38G=)
c.2157-38G= (n.2157-38G=)
c.*720-38G= (n.*720-38G=)
c.2196-38G= (n.2196-38G=)
c.2016-38G= (n.2016-38G=)
c.2490-38G= (n.2490-38G=)
c.2349-38G= (n.2349-38G=)
c.2310-38G= (n.2310-38G=)
c.2169-38G= (n.2169-38G=)
12g.109784475C>GCA607297440TRPV4c.2337-38G>C (n.2337-38G>C)
c.*1424-38G>C (n.*1424-38G>C)
c.2235-38G>C (n.2235-38G>C)
c.2157-38G>C (n.2157-38G>C)
c.*720-38G>C (n.*720-38G>C)
c.2196-38G>C (n.2196-38G>C)
c.2016-38G>C (n.2016-38G>C)
c.2490-38G>C (n.2490-38G>C)
c.2349-38G>C (n.2349-38G>C)
c.2310-38G>C (n.2310-38G>C)
c.2169-38G>C (n.2169-38G>C)
 dbSNP gnomAD v2 gnomAD v4
12g.109784476A=CA2062558005TRPV4c.2337-39T= (n.2337-39T=)
c.*1424-39T= (n.*1424-39T=)
c.2235-39T= (n.2235-39T=)
c.2157-39T= (n.2157-39T=)
c.*720-39T= (n.*720-39T=)
c.2196-39T= (n.2196-39T=)
c.2016-39T= (n.2016-39T=)
c.2490-39T= (n.2490-39T=)
c.2349-39T= (n.2349-39T=)
c.2310-39T= (n.2310-39T=)
c.2169-39T= (n.2169-39T=)
12g.109784476A>GCA2620826367TRPV4c.2337-39T>C (n.2337-39T>C)
c.*1424-39T>C (n.*1424-39T>C)
c.2235-39T>C (n.2235-39T>C)
c.2157-39T>C (n.2157-39T>C)
c.*720-39T>C (n.*720-39T>C)
c.2196-39T>C (n.2196-39T>C)
c.2016-39T>C (n.2016-39T>C)
c.2490-39T>C (n.2490-39T>C)
c.2349-39T>C (n.2349-39T>C)
c.2310-39T>C (n.2310-39T>C)
c.2169-39T>C (n.2169-39T>C)
 gnomAD v4
12g.109784476A>TCA951716310TRPV4c.2337-39T>A (n.2337-39T>A)
c.*1424-39T>A (n.*1424-39T>A)
c.2235-39T>A (n.2235-39T>A)
c.2157-39T>A (n.2157-39T>A)
c.*720-39T>A (n.*720-39T>A)
c.2196-39T>A (n.2196-39T>A)
c.2016-39T>A (n.2016-39T>A)
c.2490-39T>A (n.2490-39T>A)
c.2349-39T>A (n.2349-39T>A)
c.2310-39T>A (n.2310-39T>A)
c.2169-39T>A (n.2169-39T>A)
 dbSNP
12g.109784478A=CA2062558007TRPV4c.2337-41T= (n.2337-41T=)
c.*1424-41T= (n.*1424-41T=)
c.2235-41T= (n.2235-41T=)
c.2157-41T= (n.2157-41T=)
c.*720-41T= (n.*720-41T=)
c.2196-41T= (n.2196-41T=)
c.2016-41T= (n.2016-41T=)
c.2490-41T= (n.2490-41T=)
c.2349-41T= (n.2349-41T=)
c.2310-41T= (n.2310-41T=)
c.2169-41T= (n.2169-41T=)
12g.109784478A>TCA683466128TRPV4c.2337-41T>A (n.2337-41T>A)
c.*1424-41T>A (n.*1424-41T>A)
c.2235-41T>A (n.2235-41T>A)
c.2157-41T>A (n.2157-41T>A)
c.*720-41T>A (n.*720-41T>A)
c.2196-41T>A (n.2196-41T>A)
c.2016-41T>A (n.2016-41T>A)
c.2490-41T>A (n.2490-41T>A)
c.2349-41T>A (n.2349-41T>A)
c.2310-41T>A (n.2310-41T>A)
c.2169-41T>A (n.2169-41T>A)
 dbSNP gnomAD v3 gnomAD v4
12g.109784479G>ACA2062558009TRPV4c.2337-42C>T (n.2337-42C>T)
c.*1424-42C>T (n.*1424-42C>T)
c.2235-42C>T (n.2235-42C>T)
c.2157-42C>T (n.2157-42C>T)
c.*720-42C>T (n.*720-42C>T)
c.2196-42C>T (n.2196-42C>T)
c.2016-42C>T (n.2016-42C>T)
c.2490-42C>T (n.2490-42C>T)
c.2349-42C>T (n.2349-42C>T)
c.2310-42C>T (n.2310-42C>T)
c.2169-42C>T (n.2169-42C>T)
 dbSNP
12g.109784479G=CA2062558008TRPV4c.2337-42C= (n.2337-42C=)
c.*1424-42C= (n.*1424-42C=)
c.2235-42C= (n.2235-42C=)
c.2157-42C= (n.2157-42C=)
c.*720-42C= (n.*720-42C=)
c.2196-42C= (n.2196-42C=)
c.2016-42C= (n.2016-42C=)
c.2490-42C= (n.2490-42C=)
c.2349-42C= (n.2349-42C=)
c.2310-42C= (n.2310-42C=)
c.2169-42C= (n.2169-42C=)
12g.109784480A=CA2062558010TRPV4c.2337-43T= (n.2337-43T=)
c.*1424-43T= (n.*1424-43T=)
c.2235-43T= (n.2235-43T=)
c.2157-43T= (n.2157-43T=)
c.*720-43T= (n.*720-43T=)
c.2196-43T= (n.2196-43T=)
c.2016-43T= (n.2016-43T=)
c.2490-43T= (n.2490-43T=)
c.2349-43T= (n.2349-43T=)
c.2310-43T= (n.2310-43T=)
c.2169-43T= (n.2169-43T=)
12g.109784480A>CCA2062558011TRPV4c.2337-43T>G (n.2337-43T>G)
c.*1424-43T>G (n.*1424-43T>G)
c.2235-43T>G (n.2235-43T>G)
c.2157-43T>G (n.2157-43T>G)
c.*720-43T>G (n.*720-43T>G)
c.2196-43T>G (n.2196-43T>G)
c.2016-43T>G (n.2016-43T>G)
c.2490-43T>G (n.2490-43T>G)
c.2349-43T>G (n.2349-43T>G)
c.2310-43T>G (n.2310-43T>G)
c.2169-43T>G (n.2169-43T>G)
 dbSNP
12g.109784480A>GCA243494924TRPV4c.2337-43T>C (n.2337-43T>C)
c.*1424-43T>C (n.*1424-43T>C)
c.2235-43T>C (n.2235-43T>C)
c.2157-43T>C (n.2157-43T>C)
c.*720-43T>C (n.*720-43T>C)
c.2196-43T>C (n.2196-43T>C)
c.2016-43T>C (n.2016-43T>C)
c.2490-43T>C (n.2490-43T>C)
c.2349-43T>C (n.2349-43T>C)
c.2310-43T>C (n.2310-43T>C)
c.2169-43T>C (n.2169-43T>C)
 dbSNP gnomAD v3 gnomAD v4
12g.109784481C>ACA2620826374TRPV4c.2337-44G>T (n.2337-44G>T)
c.*1424-44G>T (n.*1424-44G>T)
c.2235-44G>T (n.2235-44G>T)
c.2157-44G>T (n.2157-44G>T)
c.*720-44G>T (n.*720-44G>T)
c.2196-44G>T (n.2196-44G>T)
c.2016-44G>T (n.2016-44G>T)
c.2490-44G>T (n.2490-44G>T)
c.2349-44G>T (n.2349-44G>T)
c.2310-44G>T (n.2310-44G>T)
c.2169-44G>T (n.2169-44G>T)
 gnomAD v4
12g.109784481C=CA2062558013TRPV4c.2337-44G= (n.2337-44G=)
c.*1424-44G= (n.*1424-44G=)
c.2235-44G= (n.2235-44G=)
c.2157-44G= (n.2157-44G=)
c.*720-44G= (n.*720-44G=)
c.2196-44G= (n.2196-44G=)
c.2016-44G= (n.2016-44G=)
c.2490-44G= (n.2490-44G=)
c.2349-44G= (n.2349-44G=)
c.2310-44G= (n.2310-44G=)
c.2169-44G= (n.2169-44G=)
12g.109784481C>TCA6779946TRPV4c.2337-44G>A (n.2337-44G>A)
c.*1424-44G>A (n.*1424-44G>A)
c.2235-44G>A (n.2235-44G>A)
c.2157-44G>A (n.2157-44G>A)
c.*720-44G>A (n.*720-44G>A)
c.2196-44G>A (n.2196-44G>A)
c.2016-44G>A (n.2016-44G>A)
c.2490-44G>A (n.2490-44G>A)
c.2349-44G>A (n.2349-44G>A)
c.2310-44G>A (n.2310-44G>A)
c.2169-44G>A (n.2169-44G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784482G>ACA6779947TRPV4c.2337-45C>T (n.2337-45C>T)
c.*1424-45C>T (n.*1424-45C>T)
c.2235-45C>T (n.2235-45C>T)
c.2157-45C>T (n.2157-45C>T)
c.*720-45C>T (n.*720-45C>T)
c.2196-45C>T (n.2196-45C>T)
c.2016-45C>T (n.2016-45C>T)
c.2490-45C>T (n.2490-45C>T)
c.2349-45C>T (n.2349-45C>T)
c.2310-45C>T (n.2310-45C>T)
c.2169-45C>T (n.2169-45C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109784482G=CA2062558014TRPV4c.2337-45C= (n.2337-45C=)
c.*1424-45C= (n.*1424-45C=)
c.2235-45C= (n.2235-45C=)
c.2157-45C= (n.2157-45C=)
c.*720-45C= (n.*720-45C=)
c.2196-45C= (n.2196-45C=)
c.2016-45C= (n.2016-45C=)
c.2490-45C= (n.2490-45C=)
c.2349-45C= (n.2349-45C=)
c.2310-45C= (n.2310-45C=)
c.2169-45C= (n.2169-45C=)
12g.109784482G>TCA6779948TRPV4c.2337-45C>A (n.2337-45C>A)
c.*1424-45C>A (n.*1424-45C>A)
c.2235-45C>A (n.2235-45C>A)
c.2157-45C>A (n.2157-45C>A)
c.*720-45C>A (n.*720-45C>A)
c.2196-45C>A (n.2196-45C>A)
c.2016-45C>A (n.2016-45C>A)
c.2490-45C>A (n.2490-45C>A)
c.2349-45C>A (n.2349-45C>A)
c.2310-45C>A (n.2310-45C>A)
c.2169-45C>A (n.2169-45C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.109784483C>ACA2727073987TRPV4c.2337-46G>T (n.2337-46G>T)
c.*1424-46G>T (n.*1424-46G>T)
c.2235-46G>T (n.2235-46G>T)
c.2157-46G>T (n.2157-46G>T)
c.*720-46G>T (n.*720-46G>T)
c.2196-46G>T (n.2196-46G>T)
c.2016-46G>T (n.2016-46G>T)
c.2490-46G>T (n.2490-46G>T)
c.2349-46G>T (n.2349-46G>T)
c.2310-46G>T (n.2310-46G>T)
c.2169-46G>T (n.2169-46G>T)
 dbSNP
12g.109784483C=CA2062558016TRPV4c.2337-46G= (n.2337-46G=)
c.*1424-46G= (n.*1424-46G=)
c.2235-46G= (n.2235-46G=)
c.2157-46G= (n.2157-46G=)
c.*720-46G= (n.*720-46G=)
c.2196-46G= (n.2196-46G=)
c.2016-46G= (n.2016-46G=)
c.2490-46G= (n.2490-46G=)
c.2349-46G= (n.2349-46G=)
c.2310-46G= (n.2310-46G=)
c.2169-46G= (n.2169-46G=)
12g.109784483C>GCA607297444TRPV4c.2337-46G>C (n.2337-46G>C)
c.*1424-46G>C (n.*1424-46G>C)
c.2235-46G>C (n.2235-46G>C)
c.2157-46G>C (n.2157-46G>C)
c.*720-46G>C (n.*720-46G>C)
c.2196-46G>C (n.2196-46G>C)
c.2016-46G>C (n.2016-46G>C)
c.2490-46G>C (n.2490-46G>C)
c.2349-46G>C (n.2349-46G>C)
c.2310-46G>C (n.2310-46G>C)
c.2169-46G>C (n.2169-46G>C)
 dbSNP gnomAD v2 gnomAD v4
12g.109784483C>TCA2620826378TRPV4c.2337-46G>A (n.2337-46G>A)
c.*1424-46G>A (n.*1424-46G>A)
c.2235-46G>A (n.2235-46G>A)
c.2157-46G>A (n.2157-46G>A)
c.*720-46G>A (n.*720-46G>A)
c.2196-46G>A (n.2196-46G>A)
c.2016-46G>A (n.2016-46G>A)
c.2490-46G>A (n.2490-46G>A)
c.2349-46G>A (n.2349-46G>A)
c.2310-46G>A (n.2310-46G>A)
c.2169-46G>A (n.2169-46G>A)
 gnomAD v4
12g.109784484T>CCA2062558018TRPV4c.2337-47A>G (n.2337-47A>G)
c.*1424-47A>G (n.*1424-47A>G)
c.2235-47A>G (n.2235-47A>G)
c.2157-47A>G (n.2157-47A>G)
c.*720-47A>G (n.*720-47A>G)
c.2196-47A>G (n.2196-47A>G)
c.2016-47A>G (n.2016-47A>G)
c.2490-47A>G (n.2490-47A>G)
c.2349-47A>G (n.2349-47A>G)
c.2310-47A>G (n.2310-47A>G)
c.2169-47A>G (n.2169-47A>G)
 dbSNP
12g.109784484T>GCA2727168624TRPV4c.2337-47A>C (n.2337-47A>C)
c.*1424-47A>C (n.*1424-47A>C)
c.2235-47A>C (n.2235-47A>C)
c.2157-47A>C (n.2157-47A>C)
c.*720-47A>C (n.*720-47A>C)
c.2196-47A>C (n.2196-47A>C)
c.2016-47A>C (n.2016-47A>C)
c.2490-47A>C (n.2490-47A>C)
c.2349-47A>C (n.2349-47A>C)
c.2310-47A>C (n.2310-47A>C)
c.2169-47A>C (n.2169-47A>C)
 dbSNP
12g.109784484T=CA2062558017TRPV4c.2337-47A= (n.2337-47A=)
c.*1424-47A= (n.*1424-47A=)
c.2235-47A= (n.2235-47A=)
c.2157-47A= (n.2157-47A=)
c.*720-47A= (n.*720-47A=)
c.2196-47A= (n.2196-47A=)
c.2016-47A= (n.2016-47A=)
c.2490-47A= (n.2490-47A=)
c.2349-47A= (n.2349-47A=)
c.2310-47A= (n.2310-47A=)
c.2169-47A= (n.2169-47A=)

Number of alleles fetched