Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.109784314_109784374delinsACCCCTGCGGAGGCGGCCCACGGTATGCGAGAAGCCATAATACTGGTAGGTCTCATTCTTG | CA2062557864 | TRPV4 | c.2400_2458+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT c.*1487_*1545+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT c.2298_2356+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT c.2220_2278+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT c.*783_*841+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT c.2259_2317+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT c.2079_2137+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT c.2553_2611+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT c.2412_2470+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT c.2373_2431+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT c.2232_2290+2delinsCAAGAATGAGACCTACCAGTATTATGGCTTCTCGCATACCGTGGGCCGCCTCCGCAGGGGT | |
12 | g.109784318_109784377del | CA1139662862 | TRPV4 | c.2400_2458+1del c.*1487_*1545+1del c.2298_2356+1del c.2220_2278+1del c.*783_*841+1del c.2259_2317+1del c.2079_2137+1del c.2553_2611+1del c.2412_2470+1del c.2373_2431+1del c.2232_2290+1del | ClinVar dbSNP |
12 | g.109784355A>C | CA386648760 | TRPV4 | c.2419T>G (p.Tyr807Asp) c.*1506T>G (n.*1506T>G) c.2317T>G (p.Tyr773Asp) c.2239T>G (p.Tyr747Asp) c.*802T>G (n.*802T>G) c.2278T>G (p.Tyr760Asp) c.2098T>G (p.Tyr700Asp) c.2572T>G (p.Tyr858Asp) c.2431T>G (p.Tyr811Asp) c.2392T>G (p.Tyr798Asp) c.2251T>G (p.Tyr751Asp) | |
12 | g.109784355A>G | CA386648761 | TRPV4 | c.2419T>C (p.Tyr807His) c.*1506T>C (n.*1506T>C) c.2317T>C (p.Tyr773His) c.2239T>C (p.Tyr747His) c.*802T>C (n.*802T>C) c.2278T>C (p.Tyr760His) c.2098T>C (p.Tyr700His) c.2572T>C (p.Tyr858His) c.2431T>C (p.Tyr811His) c.2392T>C (p.Tyr798His) c.2251T>C (p.Tyr751His) | |
12 | g.109784355A>T | CA386648762 | TRPV4 | c.2419T>A (p.Tyr807Asn) c.*1506T>A (n.*1506T>A) c.2317T>A (p.Tyr773Asn) c.2239T>A (p.Tyr747Asn) c.*802T>A (n.*802T>A) c.2278T>A (p.Tyr760Asn) c.2098T>A (p.Tyr700Asn) c.2572T>A (p.Tyr858Asn) c.2431T>A (p.Tyr811Asn) c.2392T>A (p.Tyr798Asn) c.2251T>A (p.Tyr751Asn) | |
12 | g.109784356C>A | CA386648763 | TRPV4 | c.2418G>T (p.Gln806His) c.*1505G>T (n.*1505G>T) c.2316G>T (p.Gln772His) c.2238G>T (p.Gln746His) c.*801G>T (n.*801G>T) c.2277G>T (p.Gln759His) c.2097G>T (p.Gln699His) c.2571G>T (p.Gln857His) c.2430G>T (p.Gln810His) c.2391G>T (p.Gln797His) c.2250G>T (p.Gln750His) | |
12 | g.109784356C= | CA2062557919 | TRPV4 | c.2418G= (p.Gln806=) c.*1505G= (n.*1505G=) c.2316G= (p.Gln772=) c.2238G= (p.Gln746=) c.*801G= (n.*801G=) c.2277G= (p.Gln759=) c.2097G= (p.Gln699=) c.2571G= (p.Gln857=) c.2430G= (p.Gln810=) c.2391G= (p.Gln797=) c.2250G= (p.Gln750=) | |
12 | g.109784356C>G | CA386648764 | TRPV4 | c.2418G>C (p.Gln806His) c.*1505G>C (n.*1505G>C) c.2316G>C (p.Gln772His) c.2238G>C (p.Gln746His) c.*801G>C (n.*801G>C) c.2277G>C (p.Gln759His) c.2097G>C (p.Gln699His) c.2571G>C (p.Gln857His) c.2430G>C (p.Gln810His) c.2391G>C (p.Gln797His) c.2250G>C (p.Gln750His) | |
12 | g.109784356C>T | CA481724008 | TRPV4 | c.2418G>A (p.Gln806=) c.*1505G>A (n.*1505G>A) c.2316G>A (p.Gln772=) c.2238G>A (p.Gln746=) c.*801G>A (n.*801G>A) c.2277G>A (p.Gln759=) c.2097G>A (p.Gln699=) c.2571G>A (p.Gln857=) c.2430G>A (p.Gln810=) c.2391G>A (p.Gln797=) c.2250G>A (p.Gln750=) | ClinVar dbSNP gnomAD v4 |
12 | g.109784357T>A | CA386648765 | TRPV4 | c.2417A>T (p.Gln806Leu) c.*1504A>T (n.*1504A>T) c.2315A>T (p.Gln772Leu) c.2237A>T (p.Gln746Leu) c.*800A>T (n.*800A>T) c.2276A>T (p.Gln759Leu) c.2096A>T (p.Gln699Leu) c.2570A>T (p.Gln857Leu) c.2429A>T (p.Gln810Leu) c.2390A>T (p.Gln797Leu) c.2249A>T (p.Gln750Leu) | |
12 | g.109784357T>C | CA386648766 | TRPV4 | c.2417A>G (p.Gln806Arg) c.*1504A>G (n.*1504A>G) c.2315A>G (p.Gln772Arg) c.2237A>G (p.Gln746Arg) c.*800A>G (n.*800A>G) c.2276A>G (p.Gln759Arg) c.2096A>G (p.Gln699Arg) c.2570A>G (p.Gln857Arg) c.2429A>G (p.Gln810Arg) c.2390A>G (p.Gln797Arg) c.2249A>G (p.Gln750Arg) | gnomAD v4 |
12 | g.109784357T>G | CA386648767 | TRPV4 | c.2417A>C (p.Gln806Pro) c.*1504A>C (n.*1504A>C) c.2315A>C (p.Gln772Pro) c.2237A>C (p.Gln746Pro) c.*800A>C (n.*800A>C) c.2276A>C (p.Gln759Pro) c.2096A>C (p.Gln699Pro) c.2570A>C (p.Gln857Pro) c.2429A>C (p.Gln810Pro) c.2390A>C (p.Gln797Pro) c.2249A>C (p.Gln750Pro) | |
12 | g.109784358G>A | CA386648768 | TRPV4 | c.2416C>T (p.Gln806Ter) c.*1503C>T (n.*1503C>T) c.2314C>T (p.Gln772Ter) c.2236C>T (p.Gln746Ter) c.*799C>T (n.*799C>T) c.2275C>T (p.Gln759Ter) c.2095C>T (p.Gln699Ter) c.2569C>T (p.Gln857Ter) c.2428C>T (p.Gln810Ter) c.2389C>T (p.Gln797Ter) c.2248C>T (p.Gln750Ter) | |
12 | g.109784358G>C | CA386648769 | TRPV4 | c.2416C>G (p.Gln806Glu) c.*1503C>G (n.*1503C>G) c.2314C>G (p.Gln772Glu) c.2236C>G (p.Gln746Glu) c.*799C>G (n.*799C>G) c.2275C>G (p.Gln759Glu) c.2095C>G (p.Gln699Glu) c.2569C>G (p.Gln857Glu) c.2428C>G (p.Gln810Glu) c.2389C>G (p.Gln797Glu) c.2248C>G (p.Gln750Glu) | |
12 | g.109784358G>T | CA386648770 | TRPV4 | c.2416C>A (p.Gln806Lys) c.*1503C>A (n.*1503C>A) c.2314C>A (p.Gln772Lys) c.2236C>A (p.Gln746Lys) c.*799C>A (n.*799C>A) c.2275C>A (p.Gln759Lys) c.2095C>A (p.Gln699Lys) c.2569C>A (p.Gln857Lys) c.2428C>A (p.Gln810Lys) c.2389C>A (p.Gln797Lys) c.2248C>A (p.Gln750Lys) | |
12 | g.109784359G>A | CA481724012 | TRPV4 | c.2415C>T (p.Tyr805=) c.*1502C>T (n.*1502C>T) c.2313C>T (p.Tyr771=) c.2235C>T (p.Tyr745=) c.*798C>T (n.*798C>T) c.2274C>T (p.Tyr758=) c.2094C>T (p.Tyr698=) c.2568C>T (p.Tyr856=) c.2427C>T (p.Tyr809=) c.2388C>T (p.Tyr796=) c.2247C>T (p.Tyr749=) | dbSNP |
12 | g.109784359G>C | CA386648771 | TRPV4 | c.2415C>G (p.Tyr805Ter) c.*1502C>G (n.*1502C>G) c.2313C>G (p.Tyr771Ter) c.2235C>G (p.Tyr745Ter) c.*798C>G (n.*798C>G) c.2274C>G (p.Tyr758Ter) c.2094C>G (p.Tyr698Ter) c.2568C>G (p.Tyr856Ter) c.2427C>G (p.Tyr809Ter) c.2388C>G (p.Tyr796Ter) c.2247C>G (p.Tyr749Ter) | |
12 | g.109784359G= | CA2062557921 | TRPV4 | c.2415C= (p.Tyr805=) c.*1502C= (n.*1502C=) c.2313C= (p.Tyr771=) c.2235C= (p.Tyr745=) c.*798C= (n.*798C=) c.2274C= (p.Tyr758=) c.2094C= (p.Tyr698=) c.2568C= (p.Tyr856=) c.2427C= (p.Tyr809=) c.2388C= (p.Tyr796=) c.2247C= (p.Tyr749=) | |
12 | g.109784359G>T | CA386648772 | TRPV4 | c.2415C>A (p.Tyr805Ter) c.*1502C>A (n.*1502C>A) c.2313C>A (p.Tyr771Ter) c.2235C>A (p.Tyr745Ter) c.*798C>A (n.*798C>A) c.2274C>A (p.Tyr758Ter) c.2094C>A (p.Tyr698Ter) c.2568C>A (p.Tyr856Ter) c.2427C>A (p.Tyr809Ter) c.2388C>A (p.Tyr796Ter) c.2247C>A (p.Tyr749Ter) | |
12 | g.109784360T>A | CA386648773 | TRPV4 | c.2414A>T (p.Tyr805Phe) c.*1501A>T (n.*1501A>T) c.2312A>T (p.Tyr771Phe) c.2234A>T (p.Tyr745Phe) c.*797A>T (n.*797A>T) c.2273A>T (p.Tyr758Phe) c.2093A>T (p.Tyr698Phe) c.2567A>T (p.Tyr856Phe) c.2426A>T (p.Tyr809Phe) c.2387A>T (p.Tyr796Phe) c.2246A>T (p.Tyr749Phe) | |
12 | g.109784360T>C | CA386648775 | TRPV4 | c.2414A>G (p.Tyr805Cys) c.*1501A>G (n.*1501A>G) c.2312A>G (p.Tyr771Cys) c.2234A>G (p.Tyr745Cys) c.*797A>G (n.*797A>G) c.2273A>G (p.Tyr758Cys) c.2093A>G (p.Tyr698Cys) c.2567A>G (p.Tyr856Cys) c.2426A>G (p.Tyr809Cys) c.2387A>G (p.Tyr796Cys) c.2246A>G (p.Tyr749Cys) | |
12 | g.109784360T>G | CA386648774 | TRPV4 | c.2414A>C (p.Tyr805Ser) c.*1501A>C (n.*1501A>C) c.2312A>C (p.Tyr771Ser) c.2234A>C (p.Tyr745Ser) c.*797A>C (n.*797A>C) c.2273A>C (p.Tyr758Ser) c.2093A>C (p.Tyr698Ser) c.2567A>C (p.Tyr856Ser) c.2426A>C (p.Tyr809Ser) c.2387A>C (p.Tyr796Ser) c.2246A>C (p.Tyr749Ser) | |
12 | g.109784361A>C | CA386648776 | TRPV4 | c.2413T>G (p.Tyr805Asp) c.*1500T>G (n.*1500T>G) c.2311T>G (p.Tyr771Asp) c.2233T>G (p.Tyr745Asp) c.*796T>G (n.*796T>G) c.2272T>G (p.Tyr758Asp) c.2092T>G (p.Tyr698Asp) c.2566T>G (p.Tyr856Asp) c.2425T>G (p.Tyr809Asp) c.2386T>G (p.Tyr796Asp) c.2245T>G (p.Tyr749Asp) | |
12 | g.109784361A>G | CA386648777 | TRPV4 | c.2413T>C (p.Tyr805His) c.*1500T>C (n.*1500T>C) c.2311T>C (p.Tyr771His) c.2233T>C (p.Tyr745His) c.*796T>C (n.*796T>C) c.2272T>C (p.Tyr758His) c.2092T>C (p.Tyr698His) c.2566T>C (p.Tyr856His) c.2425T>C (p.Tyr809His) c.2386T>C (p.Tyr796His) c.2245T>C (p.Tyr749His) | |
12 | g.109784361A>T | CA386648778 | TRPV4 | c.2413T>A (p.Tyr805Asn) c.*1500T>A (n.*1500T>A) c.2311T>A (p.Tyr771Asn) c.2233T>A (p.Tyr745Asn) c.*796T>A (n.*796T>A) c.2272T>A (p.Tyr758Asn) c.2092T>A (p.Tyr698Asn) c.2566T>A (p.Tyr856Asn) c.2425T>A (p.Tyr809Asn) c.2386T>A (p.Tyr796Asn) c.2245T>A (p.Tyr749Asn) | |
12 | g.109784361_109784378delinsAGGTCTCATTCTTGCCCG | CA2062557922 | TRPV4 | c.2396_2413delinsCGGGCAAGAATGAGACCT (p.Pro799=) c.*1483_*1500delinsCGGGCAAGAATGAGACCT (n.*1483_*1500delinsCGGGCAAGAATGAGACCT) c.2294_2311delinsCGGGCAAGAATGAGACCT (p.Pro765=) c.2216_2233delinsCGGGCAAGAATGAGACCT (p.Pro739=) c.*779_*796delinsCGGGCAAGAATGAGACCT (n.*779_*796delinsCGGGCAAGAATGAGACCT) c.2255_2272delinsCGGGCAAGAATGAGACCT (p.Pro752=) c.2075_2092delinsCGGGCAAGAATGAGACCT (p.Pro692=) c.2549_2566delinsCGGGCAAGAATGAGACCT (p.Pro850=) c.2408_2425delinsCGGGCAAGAATGAGACCT (p.Pro803=) c.2369_2386delinsCGGGCAAGAATGAGACCT (p.Pro790=) c.2228_2245delinsCGGGCAAGAATGAGACCT (p.Pro743=) | |
12 | g.109784362G>A | CA481724014 | TRPV4 | c.2412C>T (p.Thr804=) c.*1499C>T (n.*1499C>T) c.2310C>T (p.Thr770=) c.2232C>T (p.Thr744=) c.*795C>T (n.*795C>T) c.2271C>T (p.Thr757=) c.2091C>T (p.Thr697=) c.2565C>T (p.Thr855=) c.2424C>T (p.Thr808=) c.2385C>T (p.Thr795=) c.2244C>T (p.Thr748=) | |
12 | g.109784362G>C | CA481724016 | TRPV4 | c.2412C>G (p.Thr804=) c.*1499C>G (n.*1499C>G) c.2310C>G (p.Thr770=) c.2232C>G (p.Thr744=) c.*795C>G (n.*795C>G) c.2271C>G (p.Thr757=) c.2091C>G (p.Thr697=) c.2565C>G (p.Thr855=) c.2424C>G (p.Thr808=) c.2385C>G (p.Thr795=) c.2244C>G (p.Thr748=) | dbSNP |
12 | g.109784362G= | CA2062557924 | TRPV4 | c.2412C= (p.Thr804=) c.*1499C= (n.*1499C=) c.2310C= (p.Thr770=) c.2232C= (p.Thr744=) c.*795C= (n.*795C=) c.2271C= (p.Thr757=) c.2091C= (p.Thr697=) c.2565C= (p.Thr855=) c.2424C= (p.Thr808=) c.2385C= (p.Thr795=) c.2244C= (p.Thr748=) | |
12 | g.109784362G>T | CA481724017 | TRPV4 | c.2412C>A (p.Thr804=) c.*1499C>A (n.*1499C>A) c.2310C>A (p.Thr770=) c.2232C>A (p.Thr744=) c.*795C>A (n.*795C>A) c.2271C>A (p.Thr757=) c.2091C>A (p.Thr697=) c.2565C>A (p.Thr855=) c.2424C>A (p.Thr808=) c.2385C>A (p.Thr795=) c.2244C>A (p.Thr748=) | |
12 | g.109784366_109784382del | CA347737 | TRPV4 | c.2396_2412del (p.Pro799LeufsTer?) c.*1483_*1499del (n.*1483_*1499del) c.2294_2310del (p.Pro765LeufsTer?) c.2216_2232del (p.Pro739LeufsTer?) c.*779_*795del (n.*779_*795del) c.2255_2271del (p.Pro752LeufsTer?) c.2075_2091del (p.Pro692LeufsTer?) c.2549_2565del (p.Pro850LeufsTer?) c.2408_2424del (p.Pro803LeufsTer?) c.2369_2385del (p.Pro790LeufsTer?) c.2228_2244del (p.Pro743LeufsTer?) | ClinVar dbSNP |
12 | g.109784363G>A | CA386648779 | TRPV4 | c.2411C>T (p.Thr804Ile) c.*1498C>T (n.*1498C>T) c.2309C>T (p.Thr770Ile) c.2231C>T (p.Thr744Ile) c.*794C>T (n.*794C>T) c.2270C>T (p.Thr757Ile) c.2090C>T (p.Thr697Ile) c.2564C>T (p.Thr855Ile) c.2423C>T (p.Thr808Ile) c.2384C>T (p.Thr795Ile) c.2243C>T (p.Thr748Ile) | |
12 | g.109784363G>C | CA386648780 | TRPV4 | c.2411C>G (p.Thr804Ser) c.*1498C>G (n.*1498C>G) c.2309C>G (p.Thr770Ser) c.2231C>G (p.Thr744Ser) c.*794C>G (n.*794C>G) c.2270C>G (p.Thr757Ser) c.2090C>G (p.Thr697Ser) c.2564C>G (p.Thr855Ser) c.2423C>G (p.Thr808Ser) c.2384C>G (p.Thr795Ser) c.2243C>G (p.Thr748Ser) | |
12 | g.109784363G>T | CA386648781 | TRPV4 | c.2411C>A (p.Thr804Asn) c.*1498C>A (n.*1498C>A) c.2309C>A (p.Thr770Asn) c.2231C>A (p.Thr744Asn) c.*794C>A (n.*794C>A) c.2270C>A (p.Thr757Asn) c.2090C>A (p.Thr697Asn) c.2564C>A (p.Thr855Asn) c.2423C>A (p.Thr808Asn) c.2384C>A (p.Thr795Asn) c.2243C>A (p.Thr748Asn) | dbSNP |
12 | g.109784364T>A | CA386648782 | TRPV4 | c.2410A>T (p.Thr804Ser) c.*1497A>T (n.*1497A>T) c.2308A>T (p.Thr770Ser) c.2230A>T (p.Thr744Ser) c.*793A>T (n.*793A>T) c.2269A>T (p.Thr757Ser) c.2089A>T (p.Thr697Ser) c.2563A>T (p.Thr855Ser) c.2422A>T (p.Thr808Ser) c.2383A>T (p.Thr795Ser) c.2242A>T (p.Thr748Ser) | |
12 | g.109784364T>C | CA386648783 | TRPV4 | c.2410A>G (p.Thr804Ala) c.*1497A>G (n.*1497A>G) c.2308A>G (p.Thr770Ala) c.2230A>G (p.Thr744Ala) c.*793A>G (n.*793A>G) c.2269A>G (p.Thr757Ala) c.2089A>G (p.Thr697Ala) c.2563A>G (p.Thr855Ala) c.2422A>G (p.Thr808Ala) c.2383A>G (p.Thr795Ala) c.2242A>G (p.Thr748Ala) | |
12 | g.109784364T>G | CA6779932 | TRPV4 | c.2410A>C (p.Thr804Pro) c.*1497A>C (n.*1497A>C) c.2308A>C (p.Thr770Pro) c.2230A>C (p.Thr744Pro) c.*793A>C (n.*793A>C) c.2269A>C (p.Thr757Pro) c.2089A>C (p.Thr697Pro) c.2563A>C (p.Thr855Pro) c.2422A>C (p.Thr808Pro) c.2383A>C (p.Thr795Pro) c.2242A>C (p.Thr748Pro) | dbSNP ExAC gnomAD v2 |
12 | g.109784364T= | CA2062557926 | TRPV4 | c.2410A= (p.Thr804=) c.*1497A= (n.*1497A=) c.2308A= (p.Thr770=) c.2230A= (p.Thr744=) c.*793A= (n.*793A=) c.2269A= (p.Thr757=) c.2089A= (p.Thr697=) c.2563A= (p.Thr855=) c.2422A= (p.Thr808=) c.2383A= (p.Thr795=) c.2242A= (p.Thr748=) | |
12 | g.109784365C>A | CA386648784 | TRPV4 | c.2409G>T (p.Glu803Asp) c.*1496G>T (n.*1496G>T) c.2307G>T (p.Glu769Asp) c.2229G>T (p.Glu743Asp) c.*792G>T (n.*792G>T) c.2268G>T (p.Glu756Asp) c.2088G>T (p.Glu696Asp) c.2562G>T (p.Glu854Asp) c.2421G>T (p.Glu807Asp) c.2382G>T (p.Glu794Asp) c.2241G>T (p.Glu747Asp) | |
12 | g.109784365C= | CA2062557928 | TRPV4 | c.2409G= (p.Glu803=) c.*1496G= (n.*1496G=) c.2307G= (p.Glu769=) c.2229G= (p.Glu743=) c.*792G= (n.*792G=) c.2268G= (p.Glu756=) c.2088G= (p.Glu696=) c.2562G= (p.Glu854=) c.2421G= (p.Glu807=) c.2382G= (p.Glu794=) c.2241G= (p.Glu747=) | |
12 | g.109784365C>G | CA6779933 | TRPV4 | c.2409G>C (p.Glu803Asp) c.*1496G>C (n.*1496G>C) c.2307G>C (p.Glu769Asp) c.2229G>C (p.Glu743Asp) c.*792G>C (n.*792G>C) c.2268G>C (p.Glu756Asp) c.2088G>C (p.Glu696Asp) c.2562G>C (p.Glu854Asp) c.2421G>C (p.Glu807Asp) c.2382G>C (p.Glu794Asp) c.2241G>C (p.Glu747Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.109784365C>T | CA481724019 | TRPV4 | c.2409G>A (p.Glu803=) c.*1496G>A (n.*1496G>A) c.2307G>A (p.Glu769=) c.2229G>A (p.Glu743=) c.*792G>A (n.*792G>A) c.2268G>A (p.Glu756=) c.2088G>A (p.Glu696=) c.2562G>A (p.Glu854=) c.2421G>A (p.Glu807=) c.2382G>A (p.Glu794=) c.2241G>A (p.Glu747=) | |
12 | g.109784366T>A | CA386648786 | TRPV4 | c.2408A>T (p.Glu803Val) c.*1495A>T (n.*1495A>T) c.2306A>T (p.Glu769Val) c.2228A>T (p.Glu743Val) c.*791A>T (n.*791A>T) c.2267A>T (p.Glu756Val) c.2087A>T (p.Glu696Val) c.2561A>T (p.Glu854Val) c.2420A>T (p.Glu807Val) c.2381A>T (p.Glu794Val) c.2240A>T (p.Glu747Val) | |
12 | g.109784366T>C | CA386648787 | TRPV4 | c.2408A>G (p.Glu803Gly) c.*1495A>G (n.*1495A>G) c.2306A>G (p.Glu769Gly) c.2228A>G (p.Glu743Gly) c.*791A>G (n.*791A>G) c.2267A>G (p.Glu756Gly) c.2087A>G (p.Glu696Gly) c.2561A>G (p.Glu854Gly) c.2420A>G (p.Glu807Gly) c.2381A>G (p.Glu794Gly) c.2240A>G (p.Glu747Gly) | |
12 | g.109784366T>G | CA386648785 | TRPV4 | c.2408A>C (p.Glu803Ala) c.*1495A>C (n.*1495A>C) c.2306A>C (p.Glu769Ala) c.2228A>C (p.Glu743Ala) c.*791A>C (n.*791A>C) c.2267A>C (p.Glu756Ala) c.2087A>C (p.Glu696Ala) c.2561A>C (p.Glu854Ala) c.2420A>C (p.Glu807Ala) c.2381A>C (p.Glu794Ala) c.2240A>C (p.Glu747Ala) | |
12 | g.109784367C>A | CA386648788 | TRPV4 | c.2407G>T (p.Glu803Ter) c.*1494G>T (n.*1494G>T) c.2305G>T (p.Glu769Ter) c.2227G>T (p.Glu743Ter) c.*790G>T (n.*790G>T) c.2266G>T (p.Glu756Ter) c.2086G>T (p.Glu696Ter) c.2560G>T (p.Glu854Ter) c.2419G>T (p.Glu807Ter) c.2380G>T (p.Glu794Ter) c.2239G>T (p.Glu747Ter) | |
12 | g.109784367C>G | CA386648789 | TRPV4 | c.2407G>C (p.Glu803Gln) c.*1494G>C (n.*1494G>C) c.2305G>C (p.Glu769Gln) c.2227G>C (p.Glu743Gln) c.*790G>C (n.*790G>C) c.2266G>C (p.Glu756Gln) c.2086G>C (p.Glu696Gln) c.2560G>C (p.Glu854Gln) c.2419G>C (p.Glu807Gln) c.2380G>C (p.Glu794Gln) c.2239G>C (p.Glu747Gln) | |
12 | g.109784367C>T | CA386648790 | TRPV4 | c.2407G>A (p.Glu803Lys) c.*1494G>A (n.*1494G>A) c.2305G>A (p.Glu769Lys) c.2227G>A (p.Glu743Lys) c.*790G>A (n.*790G>A) c.2266G>A (p.Glu756Lys) c.2086G>A (p.Glu696Lys) c.2560G>A (p.Glu854Lys) c.2419G>A (p.Glu807Lys) c.2380G>A (p.Glu794Lys) c.2239G>A (p.Glu747Lys) | gnomAD v4 COSMIC |
12 | g.109784368A= | CA2062557930 | TRPV4 | c.2406T= (p.Asn802=) c.*1493T= (n.*1493T=) c.2304T= (p.Asn768=) c.2226T= (p.Asn742=) c.*789T= (n.*789T=) c.2265T= (p.Asn755=) c.2085T= (p.Asn695=) c.2559T= (p.Asn853=) c.2418T= (p.Asn806=) c.2379T= (p.Asn793=) c.2238T= (p.Asn746=) | |
12 | g.109784368A>C | CA6779934 | TRPV4 | c.2406T>G (p.Asn802Lys) c.*1493T>G (n.*1493T>G) c.2304T>G (p.Asn768Lys) c.2226T>G (p.Asn742Lys) c.*789T>G (n.*789T>G) c.2265T>G (p.Asn755Lys) c.2085T>G (p.Asn695Lys) c.2559T>G (p.Asn853Lys) c.2418T>G (p.Asn806Lys) c.2379T>G (p.Asn793Lys) c.2238T>G (p.Asn746Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109784368A>G | CA481724024 | TRPV4 | c.2406T>C (p.Asn802=) c.*1493T>C (n.*1493T>C) c.2304T>C (p.Asn768=) c.2226T>C (p.Asn742=) c.*789T>C (n.*789T>C) c.2265T>C (p.Asn755=) c.2085T>C (p.Asn695=) c.2559T>C (p.Asn853=) c.2418T>C (p.Asn806=) c.2379T>C (p.Asn793=) c.2238T>C (p.Asn746=) | |
12 | g.109784368A>T | CA386648791 | TRPV4 | c.2406T>A (p.Asn802Lys) c.*1493T>A (n.*1493T>A) c.2304T>A (p.Asn768Lys) c.2226T>A (p.Asn742Lys) c.*789T>A (n.*789T>A) c.2265T>A (p.Asn755Lys) c.2085T>A (p.Asn695Lys) c.2559T>A (p.Asn853Lys) c.2418T>A (p.Asn806Lys) c.2379T>A (p.Asn793Lys) c.2238T>A (p.Asn746Lys) | |
12 | g.109784369T>A | CA386648794 | TRPV4 | c.2405A>T (p.Asn802Ile) c.*1492A>T (n.*1492A>T) c.2303A>T (p.Asn768Ile) c.2225A>T (p.Asn742Ile) c.*788A>T (n.*788A>T) c.2264A>T (p.Asn755Ile) c.2084A>T (p.Asn695Ile) c.2558A>T (p.Asn853Ile) c.2417A>T (p.Asn806Ile) c.2378A>T (p.Asn793Ile) c.2237A>T (p.Asn746Ile) | |
12 | g.109784369T>C | CA386648792 | TRPV4 | c.2405A>G (p.Asn802Ser) c.*1492A>G (n.*1492A>G) c.2303A>G (p.Asn768Ser) c.2225A>G (p.Asn742Ser) c.*788A>G (n.*788A>G) c.2264A>G (p.Asn755Ser) c.2084A>G (p.Asn695Ser) c.2558A>G (p.Asn853Ser) c.2417A>G (p.Asn806Ser) c.2378A>G (p.Asn793Ser) c.2237A>G (p.Asn746Ser) | |
12 | g.109784369T>G | CA386648793 | TRPV4 | c.2405A>C (p.Asn802Thr) c.*1492A>C (n.*1492A>C) c.2303A>C (p.Asn768Thr) c.2225A>C (p.Asn742Thr) c.*788A>C (n.*788A>C) c.2264A>C (p.Asn755Thr) c.2084A>C (p.Asn695Thr) c.2558A>C (p.Asn853Thr) c.2417A>C (p.Asn806Thr) c.2378A>C (p.Asn793Thr) c.2237A>C (p.Asn746Thr) | |
12 | g.109784370T>A | CA386648795 | TRPV4 | c.2404A>T (p.Asn802Tyr) c.*1491A>T (n.*1491A>T) c.2302A>T (p.Asn768Tyr) c.2224A>T (p.Asn742Tyr) c.*787A>T (n.*787A>T) c.2263A>T (p.Asn755Tyr) c.2083A>T (p.Asn695Tyr) c.2557A>T (p.Asn853Tyr) c.2416A>T (p.Asn806Tyr) c.2377A>T (p.Asn793Tyr) c.2236A>T (p.Asn746Tyr) | |
12 | g.109784370T>C | CA386648796 | TRPV4 | c.2404A>G (p.Asn802Asp) c.*1491A>G (n.*1491A>G) c.2302A>G (p.Asn768Asp) c.2224A>G (p.Asn742Asp) c.*787A>G (n.*787A>G) c.2263A>G (p.Asn755Asp) c.2083A>G (p.Asn695Asp) c.2557A>G (p.Asn853Asp) c.2416A>G (p.Asn806Asp) c.2377A>G (p.Asn793Asp) c.2236A>G (p.Asn746Asp) | |
12 | g.109784370T>G | CA386648797 | TRPV4 | c.2404A>C (p.Asn802His) c.*1491A>C (n.*1491A>C) c.2302A>C (p.Asn768His) c.2224A>C (p.Asn742His) c.*787A>C (n.*787A>C) c.2263A>C (p.Asn755His) c.2083A>C (p.Asn695His) c.2557A>C (p.Asn853His) c.2416A>C (p.Asn806His) c.2377A>C (p.Asn793His) c.2236A>C (p.Asn746His) | |
12 | g.109784371C>A | CA386648798 | TRPV4 | c.2403G>T (p.Lys801Asn) c.*1490G>T (n.*1490G>T) c.2301G>T (p.Lys767Asn) c.2223G>T (p.Lys741Asn) c.*786G>T (n.*786G>T) c.2262G>T (p.Lys754Asn) c.2082G>T (p.Lys694Asn) c.2556G>T (p.Lys852Asn) c.2415G>T (p.Lys805Asn) c.2376G>T (p.Lys792Asn) c.2235G>T (p.Lys745Asn) | |
12 | g.109784371C>G | CA386648799 | TRPV4 | c.2403G>C (p.Lys801Asn) c.*1490G>C (n.*1490G>C) c.2301G>C (p.Lys767Asn) c.2223G>C (p.Lys741Asn) c.*786G>C (n.*786G>C) c.2262G>C (p.Lys754Asn) c.2082G>C (p.Lys694Asn) c.2556G>C (p.Lys852Asn) c.2415G>C (p.Lys805Asn) c.2376G>C (p.Lys792Asn) c.2235G>C (p.Lys745Asn) | |
12 | g.109784371C>T | CA481724025 | TRPV4 | c.2403G>A (p.Lys801=) c.*1490G>A (n.*1490G>A) c.2301G>A (p.Lys767=) c.2223G>A (p.Lys741=) c.*786G>A (n.*786G>A) c.2262G>A (p.Lys754=) c.2082G>A (p.Lys694=) c.2556G>A (p.Lys852=) c.2415G>A (p.Lys805=) c.2376G>A (p.Lys792=) c.2235G>A (p.Lys745=) | COSMIC |
12 | g.109784372T>A | CA386648800 | TRPV4 | c.2402A>T (p.Lys801Met) c.*1489A>T (n.*1489A>T) c.2300A>T (p.Lys767Met) c.2222A>T (p.Lys741Met) c.*785A>T (n.*785A>T) c.2261A>T (p.Lys754Met) c.2081A>T (p.Lys694Met) c.2555A>T (p.Lys852Met) c.2414A>T (p.Lys805Met) c.2375A>T (p.Lys792Met) c.2234A>T (p.Lys745Met) | |
12 | g.109784372T>C | CA386648802 | TRPV4 | c.2402A>G (p.Lys801Arg) c.*1489A>G (n.*1489A>G) c.2300A>G (p.Lys767Arg) c.2222A>G (p.Lys741Arg) c.*785A>G (n.*785A>G) c.2261A>G (p.Lys754Arg) c.2081A>G (p.Lys694Arg) c.2555A>G (p.Lys852Arg) c.2414A>G (p.Lys805Arg) c.2375A>G (p.Lys792Arg) c.2234A>G (p.Lys745Arg) | |
12 | g.109784372T>G | CA386648801 | TRPV4 | c.2402A>C (p.Lys801Thr) c.*1489A>C (n.*1489A>C) c.2300A>C (p.Lys767Thr) c.2222A>C (p.Lys741Thr) c.*785A>C (n.*785A>C) c.2261A>C (p.Lys754Thr) c.2081A>C (p.Lys694Thr) c.2555A>C (p.Lys852Thr) c.2414A>C (p.Lys805Thr) c.2375A>C (p.Lys792Thr) c.2234A>C (p.Lys745Thr) | |
12 | g.109784373T>A | CA386648803 | TRPV4 | c.2401A>T (p.Lys801Ter) c.*1488A>T (n.*1488A>T) c.2299A>T (p.Lys767Ter) c.2221A>T (p.Lys741Ter) c.*784A>T (n.*784A>T) c.2260A>T (p.Lys754Ter) c.2080A>T (p.Lys694Ter) c.2554A>T (p.Lys852Ter) c.2413A>T (p.Lys805Ter) c.2374A>T (p.Lys792Ter) c.2233A>T (p.Lys745Ter) | |
12 | g.109784373T>C | CA16619425 | TRPV4 | c.2401A>G (p.Lys801Glu) c.*1488A>G (n.*1488A>G) c.2299A>G (p.Lys767Glu) c.2221A>G (p.Lys741Glu) c.*784A>G (n.*784A>G) c.2260A>G (p.Lys754Glu) c.2080A>G (p.Lys694Glu) c.2554A>G (p.Lys852Glu) c.2413A>G (p.Lys805Glu) c.2374A>G (p.Lys792Glu) c.2233A>G (p.Lys745Glu) | ClinVar dbSNP |
12 | g.109784373T>G | CA386648804 | TRPV4 | c.2401A>C (p.Lys801Gln) c.*1488A>C (n.*1488A>C) c.2299A>C (p.Lys767Gln) c.2221A>C (p.Lys741Gln) c.*784A>C (n.*784A>C) c.2260A>C (p.Lys754Gln) c.2080A>C (p.Lys694Gln) c.2554A>C (p.Lys852Gln) c.2413A>C (p.Lys805Gln) c.2374A>C (p.Lys792Gln) c.2233A>C (p.Lys745Gln) | |
12 | g.109784373T= | CA2062557931 | TRPV4 | c.2401A= (p.Lys801=) c.*1488A= (n.*1488A=) c.2299A= (p.Lys767=) c.2221A= (p.Lys741=) c.*784A= (n.*784A=) c.2260A= (p.Lys754=) c.2080A= (p.Lys694=) c.2554A= (p.Lys852=) c.2413A= (p.Lys805=) c.2374A= (p.Lys792=) c.2233A= (p.Lys745=) | |
12 | g.109784374G>A | CA481724029 | TRPV4 | c.2400C>T (p.Gly800=) c.*1487C>T (n.*1487C>T) c.2298C>T (p.Gly766=) c.2220C>T (p.Gly740=) c.*783C>T (n.*783C>T) c.2259C>T (p.Gly753=) c.2079C>T (p.Gly693=) c.2553C>T (p.Gly851=) c.2412C>T (p.Gly804=) c.2373C>T (p.Gly791=) c.2232C>T (p.Gly744=) | |
12 | g.109784374G>C | CA481724031 | TRPV4 | c.2400C>G (p.Gly800=) c.*1487C>G (n.*1487C>G) c.2298C>G (p.Gly766=) c.2220C>G (p.Gly740=) c.*783C>G (n.*783C>G) c.2259C>G (p.Gly753=) c.2079C>G (p.Gly693=) c.2553C>G (p.Gly851=) c.2412C>G (p.Gly804=) c.2373C>G (p.Gly791=) c.2232C>G (p.Gly744=) | ClinVar dbSNP |
12 | g.109784374G= | CA2062557934 | TRPV4 | c.2400C= (p.Gly800=) c.*1487C= (n.*1487C=) c.2298C= (p.Gly766=) c.2220C= (p.Gly740=) c.*783C= (n.*783C=) c.2259C= (p.Gly753=) c.2079C= (p.Gly693=) c.2553C= (p.Gly851=) c.2412C= (p.Gly804=) c.2373C= (p.Gly791=) c.2232C= (p.Gly744=) | |
12 | g.109784374G>T | CA481724030 | TRPV4 | c.2400C>A (p.Gly800=) c.*1487C>A (n.*1487C>A) c.2298C>A (p.Gly766=) c.2220C>A (p.Gly740=) c.*783C>A (n.*783C>A) c.2259C>A (p.Gly753=) c.2079C>A (p.Gly693=) c.2553C>A (p.Gly851=) c.2412C>A (p.Gly804=) c.2373C>A (p.Gly791=) c.2232C>A (p.Gly744=) | |
12 | g.109784375C>A | CA386648805 | TRPV4 | c.2399G>T (p.Gly800Val) c.*1486G>T (n.*1486G>T) c.2297G>T (p.Gly766Val) c.2219G>T (p.Gly740Val) c.*782G>T (n.*782G>T) c.2258G>T (p.Gly753Val) c.2078G>T (p.Gly693Val) c.2552G>T (p.Gly851Val) c.2411G>T (p.Gly804Val) c.2372G>T (p.Gly791Val) c.2231G>T (p.Gly744Val) | |
12 | g.109784375C= | CA2062557936 | TRPV4 | c.2399G= (p.Gly800=) c.*1486G= (n.*1486G=) c.2297G= (p.Gly766=) c.2219G= (p.Gly740=) c.*782G= (n.*782G=) c.2258G= (p.Gly753=) c.2078G= (p.Gly693=) c.2552G= (p.Gly851=) c.2411G= (p.Gly804=) c.2372G= (p.Gly791=) c.2231G= (p.Gly744=) | |
12 | g.109784375C>G | CA386648806 | TRPV4 | c.2399G>C (p.Gly800Ala) c.*1486G>C (n.*1486G>C) c.2297G>C (p.Gly766Ala) c.2219G>C (p.Gly740Ala) c.*782G>C (n.*782G>C) c.2258G>C (p.Gly753Ala) c.2078G>C (p.Gly693Ala) c.2552G>C (p.Gly851Ala) c.2411G>C (p.Gly804Ala) c.2372G>C (p.Gly791Ala) c.2231G>C (p.Gly744Ala) | |
12 | g.109784375C>T | CA386648807 | TRPV4 | c.2399G>A (p.Gly800Asp) c.*1486G>A (n.*1486G>A) c.2297G>A (p.Gly766Asp) c.2219G>A (p.Gly740Asp) c.*782G>A (n.*782G>A) c.2258G>A (p.Gly753Asp) c.2078G>A (p.Gly693Asp) c.2552G>A (p.Gly851Asp) c.2411G>A (p.Gly804Asp) c.2372G>A (p.Gly791Asp) c.2231G>A (p.Gly744Asp) | ClinVar dbSNP |
12 | g.109784376C>A | CA386648808 | TRPV4 | c.2398G>T (p.Gly800Cys) c.*1485G>T (n.*1485G>T) c.2296G>T (p.Gly766Cys) c.2218G>T (p.Gly740Cys) c.*781G>T (n.*781G>T) c.2257G>T (p.Gly753Cys) c.2077G>T (p.Gly693Cys) c.2551G>T (p.Gly851Cys) c.2410G>T (p.Gly804Cys) c.2371G>T (p.Gly791Cys) c.2230G>T (p.Gly744Cys) | |
12 | g.109784376C>G | CA386648809 | TRPV4 | c.2398G>C (p.Gly800Arg) c.*1485G>C (n.*1485G>C) c.2296G>C (p.Gly766Arg) c.2218G>C (p.Gly740Arg) c.*781G>C (n.*781G>C) c.2257G>C (p.Gly753Arg) c.2077G>C (p.Gly693Arg) c.2551G>C (p.Gly851Arg) c.2410G>C (p.Gly804Arg) c.2371G>C (p.Gly791Arg) c.2230G>C (p.Gly744Arg) | |
12 | g.109784376C>T | CA386648810 | TRPV4 | c.2398G>A (p.Gly800Ser) c.*1485G>A (n.*1485G>A) c.2296G>A (p.Gly766Ser) c.2218G>A (p.Gly740Ser) c.*781G>A (n.*781G>A) c.2257G>A (p.Gly753Ser) c.2077G>A (p.Gly693Ser) c.2551G>A (p.Gly851Ser) c.2410G>A (p.Gly804Ser) c.2371G>A (p.Gly791Ser) c.2230G>A (p.Gly744Ser) | ClinVar |
12 | g.109784377C>A | CA481724033 | TRPV4 | c.2397G>T (p.Pro799=) c.*1484G>T (n.*1484G>T) c.2295G>T (p.Pro765=) c.2217G>T (p.Pro739=) c.*780G>T (n.*780G>T) c.2256G>T (p.Pro752=) c.2076G>T (p.Pro692=) c.2550G>T (p.Pro850=) c.2409G>T (p.Pro803=) c.2370G>T (p.Pro790=) c.2229G>T (p.Pro743=) | COSMIC |
12 | g.109784377C= | CA2062557938 | TRPV4 | c.2397G= (p.Pro799=) c.*1484G= (n.*1484G=) c.2295G= (p.Pro765=) c.2217G= (p.Pro739=) c.*780G= (n.*780G=) c.2256G= (p.Pro752=) c.2076G= (p.Pro692=) c.2550G= (p.Pro850=) c.2409G= (p.Pro803=) c.2370G= (p.Pro790=) c.2229G= (p.Pro743=) | |
12 | g.109784377C>G | CA481724034 | TRPV4 | c.2397G>C (p.Pro799=) c.*1484G>C (n.*1484G>C) c.2295G>C (p.Pro765=) c.2217G>C (p.Pro739=) c.*780G>C (n.*780G>C) c.2256G>C (p.Pro752=) c.2076G>C (p.Pro692=) c.2550G>C (p.Pro850=) c.2409G>C (p.Pro803=) c.2370G>C (p.Pro790=) c.2229G>C (p.Pro743=) | gnomAD v4 |
12 | g.109784377C>T | CA6779935 | TRPV4 | c.2397G>A (p.Pro799=) c.*1484G>A (n.*1484G>A) c.2295G>A (p.Pro765=) c.2217G>A (p.Pro739=) c.*780G>A (n.*780G>A) c.2256G>A (p.Pro752=) c.2076G>A (p.Pro692=) c.2550G>A (p.Pro850=) c.2409G>A (p.Pro803=) c.2370G>A (p.Pro790=) c.2229G>A (p.Pro743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.109784378G>A | CA117176 | TRPV4 | c.2396C>T (p.Pro799Leu) c.*1483C>T (n.*1483C>T) c.2294C>T (p.Pro765Leu) c.2216C>T (p.Pro739Leu) c.*779C>T (n.*779C>T) c.2255C>T (p.Pro752Leu) c.2075C>T (p.Pro692Leu) c.2549C>T (p.Pro850Leu) c.2408C>T (p.Pro803Leu) c.2369C>T (p.Pro790Leu) c.2228C>T (p.Pro743Leu) | ClinVar dbSNP |
12 | g.109784378G>C | CA117191 | TRPV4 | c.2396C>G (p.Pro799Arg) c.*1483C>G (n.*1483C>G) c.2294C>G (p.Pro765Arg) c.2216C>G (p.Pro739Arg) c.*779C>G (n.*779C>G) c.2255C>G (p.Pro752Arg) c.2075C>G (p.Pro692Arg) c.2549C>G (p.Pro850Arg) c.2408C>G (p.Pro803Arg) c.2369C>G (p.Pro790Arg) c.2228C>G (p.Pro743Arg) | ClinVar dbSNP |
12 | g.109784378G= | CA2062557941 | TRPV4 | c.2396C= (p.Pro799=) c.*1483C= (n.*1483C=) c.2294C= (p.Pro765=) c.2216C= (p.Pro739=) c.*779C= (n.*779C=) c.2255C= (p.Pro752=) c.2075C= (p.Pro692=) c.2549C= (p.Pro850=) c.2408C= (p.Pro803=) c.2369C= (p.Pro790=) c.2228C= (p.Pro743=) | |
12 | g.109784378G>T | CA386648811 | TRPV4 | c.2396C>A (p.Pro799Gln) c.*1483C>A (n.*1483C>A) c.2294C>A (p.Pro765Gln) c.2216C>A (p.Pro739Gln) c.*779C>A (n.*779C>A) c.2255C>A (p.Pro752Gln) c.2075C>A (p.Pro692Gln) c.2549C>A (p.Pro850Gln) c.2408C>A (p.Pro803Gln) c.2369C>A (p.Pro790Gln) c.2228C>A (p.Pro743Gln) | ClinVar |
12 | g.109784379G>A | CA117189 | TRPV4 | c.2395C>T (p.Pro799Ser) c.*1482C>T (n.*1482C>T) c.2293C>T (p.Pro765Ser) c.2215C>T (p.Pro739Ser) c.*778C>T (n.*778C>T) c.2254C>T (p.Pro752Ser) c.2074C>T (p.Pro692Ser) c.2548C>T (p.Pro850Ser) c.2407C>T (p.Pro803Ser) c.2368C>T (p.Pro790Ser) c.2227C>T (p.Pro743Ser) | ClinVar dbSNP |
12 | g.109784379G>C | CA117187 | TRPV4 | c.2395C>G (p.Pro799Ala) c.*1482C>G (n.*1482C>G) c.2293C>G (p.Pro765Ala) c.2215C>G (p.Pro739Ala) c.*778C>G (n.*778C>G) c.2254C>G (p.Pro752Ala) c.2074C>G (p.Pro692Ala) c.2548C>G (p.Pro850Ala) c.2407C>G (p.Pro803Ala) c.2368C>G (p.Pro790Ala) c.2227C>G (p.Pro743Ala) | ClinVar dbSNP |
12 | g.109784379G= | CA2062557944 | TRPV4 | c.2395C= (p.Pro799=) c.*1482C= (n.*1482C=) c.2293C= (p.Pro765=) c.2215C= (p.Pro739=) c.*778C= (n.*778C=) c.2254C= (p.Pro752=) c.2074C= (p.Pro692=) c.2548C= (p.Pro850=) c.2407C= (p.Pro803=) c.2368C= (p.Pro790=) c.2227C= (p.Pro743=) | |
12 | g.109784379G>T | CA386648812 | TRPV4 | c.2395C>A (p.Pro799Thr) c.*1482C>A (n.*1482C>A) c.2293C>A (p.Pro765Thr) c.2215C>A (p.Pro739Thr) c.*778C>A (n.*778C>A) c.2254C>A (p.Pro752Thr) c.2074C>A (p.Pro692Thr) c.2548C>A (p.Pro850Thr) c.2407C>A (p.Pro803Thr) c.2368C>A (p.Pro790Thr) c.2227C>A (p.Pro743Thr) | ClinVar dbSNP |
12 | g.109784380G>A | CA481724035 | TRPV4 | c.2394C>T (p.Asp798=) c.*1481C>T (n.*1481C>T) c.2292C>T (p.Asp764=) c.2214C>T (p.Asp738=) c.*777C>T (n.*777C>T) c.2253C>T (p.Asp751=) c.2073C>T (p.Asp691=) c.2547C>T (p.Asp849=) c.2406C>T (p.Asp802=) c.2367C>T (p.Asp789=) c.2226C>T (p.Asp742=) | |
12 | g.109784380G>C | CA386648813 | TRPV4 | c.2394C>G (p.Asp798Glu) c.*1481C>G (n.*1481C>G) c.2292C>G (p.Asp764Glu) c.2214C>G (p.Asp738Glu) c.*777C>G (n.*777C>G) c.2253C>G (p.Asp751Glu) c.2073C>G (p.Asp691Glu) c.2547C>G (p.Asp849Glu) c.2406C>G (p.Asp802Glu) c.2367C>G (p.Asp789Glu) c.2226C>G (p.Asp742Glu) | |
12 | g.109784380G>T | CA386648814 | TRPV4 | c.2394C>A (p.Asp798Glu) c.*1481C>A (n.*1481C>A) c.2292C>A (p.Asp764Glu) c.2214C>A (p.Asp738Glu) c.*777C>A (n.*777C>A) c.2253C>A (p.Asp751Glu) c.2073C>A (p.Asp691Glu) c.2547C>A (p.Asp849Glu) c.2406C>A (p.Asp802Glu) c.2367C>A (p.Asp789Glu) c.2226C>A (p.Asp742Glu) | |
12 | g.109784381T>A | CA386648815 | TRPV4 | c.2393A>T (p.Asp798Val) c.*1480A>T (n.*1480A>T) c.2291A>T (p.Asp764Val) c.2213A>T (p.Asp738Val) c.*776A>T (n.*776A>T) c.2252A>T (p.Asp751Val) c.2072A>T (p.Asp691Val) c.2546A>T (p.Asp849Val) c.2405A>T (p.Asp802Val) c.2366A>T (p.Asp789Val) c.2225A>T (p.Asp742Val) | |
12 | g.109784381T>C | CA386648816 | TRPV4 | c.2393A>G (p.Asp798Gly) c.*1480A>G (n.*1480A>G) c.2291A>G (p.Asp764Gly) c.2213A>G (p.Asp738Gly) c.*776A>G (n.*776A>G) c.2252A>G (p.Asp751Gly) c.2072A>G (p.Asp691Gly) c.2546A>G (p.Asp849Gly) c.2405A>G (p.Asp802Gly) c.2366A>G (p.Asp789Gly) c.2225A>G (p.Asp742Gly) | COSMIC |
12 | g.109784381T>G | CA386648817 | TRPV4 | c.2393A>C (p.Asp798Ala) c.*1480A>C (n.*1480A>C) c.2291A>C (p.Asp764Ala) c.2213A>C (p.Asp738Ala) c.*776A>C (n.*776A>C) c.2252A>C (p.Asp751Ala) c.2072A>C (p.Asp691Ala) c.2546A>C (p.Asp849Ala) c.2405A>C (p.Asp802Ala) c.2366A>C (p.Asp789Ala) c.2225A>C (p.Asp742Ala) | dbSNP |
12 | g.109784381T= | CA2062557947 | TRPV4 | c.2393A= (p.Asp798=) c.*1480A= (n.*1480A=) c.2291A= (p.Asp764=) c.2213A= (p.Asp738=) c.*776A= (n.*776A=) c.2252A= (p.Asp751=) c.2072A= (p.Asp691=) c.2546A= (p.Asp849=) c.2405A= (p.Asp802=) c.2366A= (p.Asp789=) c.2225A= (p.Asp742=) | |
12 | g.109784382C>A | CA386648818 | TRPV4 | c.2392G>T (p.Asp798Tyr) c.*1479G>T (n.*1479G>T) c.2290G>T (p.Asp764Tyr) c.2212G>T (p.Asp738Tyr) c.*775G>T (n.*775G>T) c.2251G>T (p.Asp751Tyr) c.2071G>T (p.Asp691Tyr) c.2545G>T (p.Asp849Tyr) c.2404G>T (p.Asp802Tyr) c.2365G>T (p.Asp789Tyr) c.2224G>T (p.Asp742Tyr) | |
12 | g.109784382C>G | CA386648819 | TRPV4 | c.2392G>C (p.Asp798His) c.*1479G>C (n.*1479G>C) c.2290G>C (p.Asp764His) c.2212G>C (p.Asp738His) c.*775G>C (n.*775G>C) c.2251G>C (p.Asp751His) c.2071G>C (p.Asp691His) c.2545G>C (p.Asp849His) c.2404G>C (p.Asp802His) c.2365G>C (p.Asp789His) c.2224G>C (p.Asp742His) | |
12 | g.109784382C>T | CA386648820 | TRPV4 | c.2392G>A (p.Asp798Asn) c.*1479G>A (n.*1479G>A) c.2290G>A (p.Asp764Asn) c.2212G>A (p.Asp738Asn) c.*775G>A (n.*775G>A) c.2251G>A (p.Asp751Asn) c.2071G>A (p.Asp691Asn) c.2545G>A (p.Asp849Asn) c.2404G>A (p.Asp802Asn) c.2365G>A (p.Asp789Asn) c.2224G>A (p.Asp742Asn) | gnomAD v4 |
12 | g.109784383C>A | CA386648821 | TRPV4 | c.2391G>T (p.Glu797Asp) c.*1478G>T (n.*1478G>T) c.2289G>T (p.Glu763Asp) c.2211G>T (p.Glu737Asp) c.*774G>T (n.*774G>T) c.2250G>T (p.Glu750Asp) c.2070G>T (p.Glu690Asp) c.2544G>T (p.Glu848Asp) c.2403G>T (p.Glu801Asp) c.2364G>T (p.Glu788Asp) c.2223G>T (p.Glu741Asp) | |
12 | g.109784383C= | CA2062557949 | TRPV4 | c.2391G= (p.Glu797=) c.*1478G= (n.*1478G=) c.2289G= (p.Glu763=) c.2211G= (p.Glu737=) c.*774G= (n.*774G=) c.2250G= (p.Glu750=) c.2070G= (p.Glu690=) c.2544G= (p.Glu848=) c.2403G= (p.Glu801=) c.2364G= (p.Glu788=) c.2223G= (p.Glu741=) | |
12 | g.109784383C>G | CA386648822 | TRPV4 | c.2391G>C (p.Glu797Asp) c.*1478G>C (n.*1478G>C) c.2289G>C (p.Glu763Asp) c.2211G>C (p.Glu737Asp) c.*774G>C (n.*774G>C) c.2250G>C (p.Glu750Asp) c.2070G>C (p.Glu690Asp) c.2544G>C (p.Glu848Asp) c.2403G>C (p.Glu801Asp) c.2364G>C (p.Glu788Asp) c.2223G>C (p.Glu741Asp) | ClinVar dbSNP |
12 | g.109784383C>T | CA6779936 | TRPV4 | c.2391G>A (p.Glu797=) c.*1478G>A (n.*1478G>A) c.2289G>A (p.Glu763=) c.2211G>A (p.Glu737=) c.*774G>A (n.*774G>A) c.2250G>A (p.Glu750=) c.2070G>A (p.Glu690=) c.2544G>A (p.Glu848=) c.2403G>A (p.Glu801=) c.2364G>A (p.Glu788=) c.2223G>A (p.Glu741=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109784384T>A | CA386648823 | TRPV4 | c.2390A>T (p.Glu797Val) c.*1477A>T (n.*1477A>T) c.2288A>T (p.Glu763Val) c.2210A>T (p.Glu737Val) c.*773A>T (n.*773A>T) c.2249A>T (p.Glu750Val) c.2069A>T (p.Glu690Val) c.2543A>T (p.Glu848Val) c.2402A>T (p.Glu801Val) c.2363A>T (p.Glu788Val) c.2222A>T (p.Glu741Val) | |
12 | g.109784384T>C | CA386648824 | TRPV4 | c.2390A>G (p.Glu797Gly) c.*1477A>G (n.*1477A>G) c.2288A>G (p.Glu763Gly) c.2210A>G (p.Glu737Gly) c.*773A>G (n.*773A>G) c.2249A>G (p.Glu750Gly) c.2069A>G (p.Glu690Gly) c.2543A>G (p.Glu848Gly) c.2402A>G (p.Glu801Gly) c.2363A>G (p.Glu788Gly) c.2222A>G (p.Glu741Gly) | |
12 | g.109784384T>G | CA386648825 | TRPV4 | c.2390A>C (p.Glu797Ala) c.*1477A>C (n.*1477A>C) c.2288A>C (p.Glu763Ala) c.2210A>C (p.Glu737Ala) c.*773A>C (n.*773A>C) c.2249A>C (p.Glu750Ala) c.2069A>C (p.Glu690Ala) c.2543A>C (p.Glu848Ala) c.2402A>C (p.Glu801Ala) c.2363A>C (p.Glu788Ala) c.2222A>C (p.Glu741Ala) | |
12 | g.109784385C>A | CA386648826 | TRPV4 | c.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) | |
12 | g.109784385C= | CA2062557952 | TRPV4 | c.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=) | |
12 | g.109784385C>G | CA386648827 | TRPV4 | c.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) | |
12 | g.109784385C>T | CA117195 | TRPV4 | c.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 |
12 | g.109784385_109784388delinsCGTT | CA2062557954 | TRPV4 | c.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=) | |
12 | g.109784386G>A | CA6779937 | TRPV4 | c.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 |
12 | g.109784386G>C | CA386648828 | TRPV4 | c.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 |
12 | g.109784386G= | CA2062557956 | TRPV4 | c.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=) | |
12 | g.109784386G>T | CA386648829 | TRPV4 | c.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) | |
12 | g.109784387_109784389del | CA2062557957 | TRPV4 | c.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 |
12 | g.109784387T>A | CA386648830 | TRPV4 | c.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 |
12 | g.109784387T>C | CA386648831 | TRPV4 | c.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 |
12 | g.109784387T>G | CA386648832 | TRPV4 | c.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) | |
12 | g.109784387T= | CA2062557959 | TRPV4 | c.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=) | |
12 | g.109784388T>A | CA386648833 | TRPV4 | c.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) | |
12 | g.109784388T>C | CA386648834 | TRPV4 | c.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) | |
12 | g.109784388T>G | CA386648835 | TRPV4 | c.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) | |
12 | g.109784389G>A | CA6779938 | TRPV4 | c.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 |
12 | g.109784389G>C | CA386648836 | TRPV4 | c.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) | |
12 | g.109784389G= | CA2062557961 | TRPV4 | c.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=) | |
12 | g.109784389G>T | CA481724039 | TRPV4 | c.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=) | |
12 | g.109784390A>C | CA386648839 | TRPV4 | c.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) | |
12 | g.109784390A>G | CA386648838 | TRPV4 | c.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) | |
12 | g.109784390A>T | CA386648837 | TRPV4 | c.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) | |
12 | g.109784391T>A | CA386648840 | TRPV4 | c.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) | |
12 | g.109784391T>C | CA386648841 | TRPV4 | c.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) | |
12 | g.109784391T>G | CA386648842 | TRPV4 | c.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) | |
12 | g.109784392G>A | CA481724041 | TRPV4 | c.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 |
12 | g.109784392G>C | CA386648843 | TRPV4 | c.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) | |
12 | g.109784392G>T | CA481724042 | TRPV4 | c.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=) | |
12 | g.109784393A>C | CA386648844 | TRPV4 | c.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) | |
12 | g.109784393A>G | CA386648845 | TRPV4 | c.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) | |
12 | g.109784393A>T | CA386648846 | TRPV4 | c.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) | |
12 | g.109784394T>A | CA386648847 | TRPV4 | c.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) | |
12 | g.109784394T>C | CA386648848 | TRPV4 | c.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) | |
12 | g.109784394T>G | CA386648849 | TRPV4 | c.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) | |
12 | g.109784394_109784395delinsTG | CA2062557963 | TRPV4 | c.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=) | |
12 | g.109784395del | CA2062557964 | TRPV4 | c.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 |
12 | g.109784395G>A | CA481724046 | TRPV4 | c.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=) | |
12 | g.109784395G>C | CA481724047 | TRPV4 | c.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=) | |
12 | g.109784395G>T | CA481724049 | TRPV4 | c.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=) | |
12 | g.109784396C>A | CA386648850 | TRPV4 | c.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 |
12 | g.109784396C= | CA2062557966 | TRPV4 | c.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=) | |
12 | g.109784396C>G | CA386648851 | TRPV4 | c.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) | |
12 | g.109784396C>T | CA386648852 | TRPV4 | c.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 |
12 | g.109784397C>A | CA386648854 | TRPV4 | c.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) | |
12 | g.109784397C>G | CA386648855 | TRPV4 | c.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) | |
12 | g.109784397C>T | CA386648853 | TRPV4 | c.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 |
12 | g.109784398C>A | CA386648856 | TRPV4 | c.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) | |
12 | g.109784398C= | CA2062557968 | TRPV4 | c.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=) | |
12 | g.109784398C>G | CA386648857 | TRPV4 | c.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 |
12 | g.109784398C>T | CA243494841 | TRPV4 | c.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 |
12 | g.109784399A>C | CA386648858 | TRPV4 | c.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) | |
12 | g.109784399A>G | CA386648860 | TRPV4 | c.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 |
12 | g.109784399A>T | CA386648859 | TRPV4 | c.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) | |
12 | g.109784400A>C | CA386648861 | TRPV4 | c.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) | |
12 | g.109784400A>G | CA481724054 | TRPV4 | c.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 |
12 | g.109784400A>T | CA386648862 | TRPV4 | c.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) | |
12 | g.109784401G>A | CA481724055 | TRPV4 | c.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=) | |
12 | g.109784401G>C | CA386648863 | TRPV4 | c.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) | |
12 | g.109784401G>T | CA386648864 | TRPV4 | c.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) | |
12 | g.109784402T>A | CA386648865 | TRPV4 | c.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) | |
12 | g.109784402T>C | CA386648866 | TRPV4 | c.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) | |
12 | g.109784402T>G | CA386648867 | TRPV4 | c.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) | |
12 | g.109784403T>A | CA386648870 | TRPV4 | c.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) | |
12 | g.109784403T>C | CA386648868 | TRPV4 | c.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) | |
12 | g.109784403T>G | CA386648869 | TRPV4 | c.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) | |
12 | g.109784404C>A | CA386648871 | TRPV4 | c.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) | |
12 | g.109784404C>G | CA386648872 | TRPV4 | c.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) | |
12 | g.109784404C>T | CA481724057 | TRPV4 | c.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=) | |
12 | g.109784405T>A | CA386648873 | TRPV4 | c.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) | |
12 | g.109784405T>C | CA386648874 | TRPV4 | c.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) | |
12 | g.109784405T>G | CA386648875 | TRPV4 | c.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) | |
12 | g.109784406G>A | CA386648876 | TRPV4 | c.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) | |
12 | g.109784406G>C | CA386648878 | TRPV4 | c.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) | |
12 | g.109784406G>T | CA386648877 | TRPV4 | c.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) | |
12 | g.109784407G>A | CA481724059 | TRPV4 | c.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=) | |
12 | g.109784407G>C | CA386648879 | TRPV4 | c.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) | |
12 | g.109784407G>T | CA386648880 | TRPV4 | c.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) | |
12 | g.109784408T>A | CA386648881 | TRPV4 | c.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) | |
12 | g.109784408T>C | CA386648882 | TRPV4 | c.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 |
12 | g.109784408T>G | CA386648883 | TRPV4 | c.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) | |
12 | g.109784409T>A | CA386648884 | TRPV4 | c.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) | |
12 | g.109784409T>C | CA386648885 | TRPV4 | c.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 |
12 | g.109784409T>G | CA386648886 | TRPV4 | c.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) | |
12 | g.109784410C>A | CA386648887 | TRPV4 | c.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) | |
12 | g.109784410C>G | CA386648888 | TRPV4 | c.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) | |
12 | g.109784410C>T | CA386648889 | TRPV4 | c.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) | |
12 | g.109784411C>A | CA386648890 | TRPV4 | c.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) | |
12 | g.109784411C>G | CA386648892 | TRPV4 | c.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) | |
12 | g.109784411C>T | CA386648891 | TRPV4 | c.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) | |
12 | g.109784412A>C | CA386648893 | TRPV4 | c.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) | |
12 | g.109784412A>G | CA386648894 | TRPV4 | c.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) | |
12 | g.109784412A>T | CA386648895 | TRPV4 | c.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) | |
12 | g.109784413G>A | CA481724064 | TRPV4 | c.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 |
12 | g.109784413G>C | CA386648896 | TRPV4 | c.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) | |
12 | g.109784413G= | CA2062557969 | TRPV4 | c.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=) | |
12 | g.109784413G>T | CA386648897 | TRPV4 | c.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) | |
12 | g.109784414T>A | CA386648898 | TRPV4 | c.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) | |
12 | g.109784414T>C | CA386648899 | TRPV4 | c.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) | |
12 | g.109784414T>G | CA386648900 | TRPV4 | c.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) | |
12 | g.109784415G>A | CA386648901 | TRPV4 | c.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 |
12 | g.109784415G>C | CA386648902 | TRPV4 | c.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) | |
12 | g.109784415G>T | CA386648903 | TRPV4 | c.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) | |
12 | g.109784416A>C | CA481724065 | TRPV4 | c.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=) | |
12 | g.109784416A>G | CA481724067 | TRPV4 | c.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=) | |
12 | g.109784416A>T | CA481724066 | TRPV4 | c.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=) | |
12 | g.109784417G>A | CA386648906 | TRPV4 | c.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) | |
12 | g.109784417G>C | CA386648905 | TRPV4 | c.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) | |
12 | g.109784417G>T | CA386648904 | TRPV4 | c.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) | |
12 | g.109784418A>C | CA386648907 | TRPV4 | c.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) | |
12 | g.109784418A>G | CA386648908 | TRPV4 | c.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) | |
12 | g.109784418A>T | CA386648909 | TRPV4 | c.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) | |
12 | g.109784418_109784419delinsAC | CA2062557970 | TRPV4 | c.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=) | |
12 | g.109784419C>A | CA386648910 | TRPV4 | c.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 |
12 | g.109784419C= | CA2062557972 | TRPV4 | c.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=) | |
12 | g.109784419C>G | CA386648911 | TRPV4 | c.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) | |
12 | g.109784419C>T | CA386648912 | TRPV4 | c.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 |
12 | g.109784420del | CA683466030 | TRPV4 | c.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 |
12 | g.109784420C>A | CA386648913 | TRPV4 | c.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) | |
12 | g.109784420C>G | CA386648914 | TRPV4 | c.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 |
12 | g.109784420C>T | CA386648915 | TRPV4 | c.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) | |
12 | g.109784421A>C | CA386648916 | TRPV4 | c.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) | |
12 | g.109784421A>G | CA386648917 | TRPV4 | c.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 |
12 | g.109784421A>T | CA386648918 | TRPV4 | c.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) | |
12 | g.109784422G>A | CA481724068 | TRPV4 | c.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=) | |
12 | g.109784422G>C | CA386648919 | TRPV4 | c.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) | |
12 | g.109784422G>T | CA386648920 | TRPV4 | c.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) | |
12 | g.109784423T>A | CA386648921 | TRPV4 | c.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) | |
12 | g.109784423T>C | CA386648923 | TRPV4 | c.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) | |
12 | g.109784423T>G | CA386648922 | TRPV4 | c.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) | |
12 | g.109784424T>A | CA386648924 | TRPV4 | c.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) | |
12 | g.109784424T>C | CA386648925 | TRPV4 | c.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 |
12 | g.109784424T>G | CA386648926 | TRPV4 | c.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) | |
12 | g.109784425C>A | CA481724070 | TRPV4 | c.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 |
12 | g.109784425C= | CA2062557974 | TRPV4 | c.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=) | |
12 | g.109784425C>G | CA481724069 | TRPV4 | c.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 |
12 | g.109784425C>T | CA6779939 | TRPV4 | c.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 |
12 | g.109784426A= | CA2062557975 | TRPV4 | c.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=) | |
12 | g.109784426A>C | CA386648927 | TRPV4 | c.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) | |
12 | g.109784426A>G | CA386648928 | TRPV4 | c.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) | |
12 | g.109784426A>T | CA386648929 | TRPV4 | c.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 |
12 | g.109784427C>A | CA386648930 | TRPV4 | c.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) | |
12 | g.109784427C= | CA2062557977 | TRPV4 | c.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=) | |
12 | g.109784427C>G | CA386648931 | TRPV4 | c.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) | |
12 | g.109784427C>T | CA386648932 | TRPV4 | c.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 |
12 | g.109784428C>A | CA386648933 | TRPV4 | c.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) | |
12 | g.109784428C>G | CA386648934 | TRPV4 | c.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) | |
12 | g.109784428C>T | CA481724071 | TRPV4 | c.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=) | |
12 | g.109784429T>A | CA386648937 | TRPV4 | c.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) | |
12 | g.109784429T>C | CA386648935 | TRPV4 | c.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) | |
12 | g.109784429T>G | CA386648936 | TRPV4 | c.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) | |
12 | g.109784430C>A | CA386648938 | TRPV4 | c.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) | |
12 | g.109784430C>G | CA386648939 | TRPV4 | c.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) | |
12 | g.109784430C>T | CA386648940 | TRPV4 | c.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 |
12 | g.109784431A= | CA2062557978 | TRPV4 | c.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=) | |
12 | g.109784431A>C | CA386648941 | TRPV4 | c.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 |
12 | g.109784431A>G | CA481724072 | TRPV4 | c.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=) | |
12 | g.109784431A>T | CA386648942 | TRPV4 | c.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 |
12 | g.109784432T>A | CA386648943 | TRPV4 | c.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) | |
12 | g.109784432T>C | CA386648944 | TRPV4 | c.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 |
12 | g.109784432T>G | CA386648945 | TRPV4 | c.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) | |
12 | g.109784433C>A | CA386648946 | TRPV4 | c.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) | |
12 | g.109784433C>G | CA386648947 | TRPV4 | c.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) | |
12 | g.109784433C>T | CA386648948 | TRPV4 | c.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) | |
12 | g.109784434C>A | CA481724073 | TRPV4 | c.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=) | |
12 | g.109784434C>G | CA481724074 | TRPV4 | c.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=) | |
12 | g.109784434C>T | CA481724075 | TRPV4 | c.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=) | |
12 | g.109784435A>C | CA386648951 | TRPV4 | c.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) | |
12 | g.109784435A>G | CA386648950 | TRPV4 | c.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 |
12 | g.109784435A>T | CA386648949 | TRPV4 | c.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) | |
12 | g.109784436C>A | CA386648952 | TRPV4 | c.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 |
12 | g.109784436C= | CA2062557980 | TRPV4 | c.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=) | |
12 | g.109784436C>G | CA386648953 | TRPV4 | c.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) | |
12 | g.109784436C>T | CA243494856 | TRPV4 | c.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 |
12 | g.109784437C>A | CA243494859 | TRPV4 | c.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 |
12 | g.109784437C= | CA2062557982 | TRPV4 | c.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=) | |
12 | g.109784437C>G | CA386648954 | TRPV4 | c.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) | |
12 | g.109784437C>T | CA481724076 | TRPV4 | c.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 |
12 | g.109784438C>A | CA386648955 | TRPV4 | c.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) | |
12 | g.109784438C>G | CA386648956 | TRPV4 | c.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) | |
12 | g.109784438C>T | CA386648957 | TRPV4 | c.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) | |
12 | g.109784439T>A | CA386648958 | TRPV4 | c.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) | |
12 | g.109784439T>C | CA386648959 | TRPV4 | c.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) | |
12 | g.109784439T>G | CA386648960 | TRPV4 | c.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 |
12 | g.109784439T= | CA2062557983 | TRPV4 | c.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=) | |
12 | g.109784440G>A | CA6779940 | TRPV4 | c.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 |
12 | g.109784440G>C | CA683466085 | TRPV4 | c.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 |
12 | g.109784440G= | CA2062557985 | TRPV4 | c.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=) | |
12 | g.109784441G= | CA2062557986 | TRPV4 | c.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=) | |
12 | g.109784441G>T | CA6779941 | TRPV4 | c.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 |
12 | g.109784442C>T | CA2620826311 | TRPV4 | c.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 |
12 | g.109784443A= | CA2062557988 | TRPV4 | c.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=) | |
12 | g.109784443A>G | CA6779942 | TRPV4 | c.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 |
12 | g.109784446G>A | CA243494889 | TRPV4 | c.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 |
12 | g.109784446G= | CA2062557989 | TRPV4 | c.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=) | |
12 | g.109784449C>A | CA2620826320 | TRPV4 | c.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 |
12 | g.109784450A= | CA2062557991 | TRPV4 | c.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=) | |
12 | g.109784450A>T | CA243494895 | TRPV4 | c.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 |
12 | g.109784452G>A | CA2739277297 | TRPV4 | c.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 |
12 | g.109784453C= | CA2062557993 | TRPV4 | c.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=) | |
12 | g.109784453C>T | CA6779943 | TRPV4 | c.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 |