Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.109798798G>ACA386654750TRPV4c.968C>T (p.Thr323Ile)
c.*55C>T (n.*55C>T)
n.999C>T
c.866C>T (p.Thr289Ile)
c.827C>T (p.Thr276Ile)
c.1121C>T (p.Thr374Ile)
c.980C>T (p.Thr327Ile)
12g.109798798G>CCA386654751TRPV4c.968C>G (p.Thr323Arg)
c.*55C>G (n.*55C>G)
n.999C>G
c.866C>G (p.Thr289Arg)
c.827C>G (p.Thr276Arg)
c.1121C>G (p.Thr374Arg)
c.980C>G (p.Thr327Arg)
dbSNP
12g.109798798G=CA2062573072TRPV4c.968C= (p.Thr323=)
c.*55C= (n.*55C=)
n.999C=
c.866C= (p.Thr289=)
c.827C= (p.Thr276=)
c.1121C= (p.Thr374=)
c.980C= (p.Thr327=)
12g.109798798G>TCA386654752TRPV4c.968C>A (p.Thr323Lys)
c.*55C>A (n.*55C>A)
n.999C>A
c.866C>A (p.Thr289Lys)
c.827C>A (p.Thr276Lys)
c.1121C>A (p.Thr374Lys)
c.980C>A (p.Thr327Lys)
12g.109798800_109798813delCA2620828365TRPV4c.955_968del (p.Arg320AlafsTer9)
c.*42_*55del (n.*42_*55del)
n.986_999del
c.853_866del (p.Arg286AlafsTer9)
c.814_827del (p.Arg273AlafsTer9)
c.1108_1121del (p.Arg371AlafsTer9)
c.967_980del (p.Arg324AlafsTer9)
gnomAD v4
12g.109798799T>ACA386654754TRPV4c.967A>T (p.Thr323Ser)
c.*54A>T (n.*54A>T)
n.998A>T
c.865A>T (p.Thr289Ser)
c.826A>T (p.Thr276Ser)
c.1120A>T (p.Thr374Ser)
c.979A>T (p.Thr327Ser)
12g.109798799T>CCA386654756TRPV4c.967A>G (p.Thr323Ala)
c.*54A>G (n.*54A>G)
n.998A>G
c.865A>G (p.Thr289Ala)
c.826A>G (p.Thr276Ala)
c.1120A>G (p.Thr374Ala)
c.979A>G (p.Thr327Ala)
12g.109798799T>GCA386654758TRPV4c.967A>C (p.Thr323Pro)
c.*54A>C (n.*54A>C)
n.998A>C
c.865A>C (p.Thr289Pro)
c.826A>C (p.Thr276Pro)
c.1120A>C (p.Thr374Pro)
c.979A>C (p.Thr327Pro)
12g.109798800G>ACA481867481TRPV4c.966C>T (p.Asn322=)
c.*53C>T (n.*53C>T)
n.997C>T
c.864C>T (p.Asn288=)
c.825C>T (p.Asn275=)
c.1119C>T (p.Asn373=)
c.978C>T (p.Asn326=)
ClinVar dbSNP
12g.109798800G>CCA386654761TRPV4c.966C>G (p.Asn322Lys)
c.*53C>G (n.*53C>G)
n.997C>G
c.864C>G (p.Asn288Lys)
c.825C>G (p.Asn275Lys)
c.1119C>G (p.Asn373Lys)
c.978C>G (p.Asn326Lys)
12g.109798800G=CA2062573074TRPV4c.966C= (p.Asn322=)
c.*53C= (n.*53C=)
n.997C=
c.864C= (p.Asn288=)
c.825C= (p.Asn275=)
c.1119C= (p.Asn373=)
c.978C= (p.Asn326=)
12g.109798800G>TCA386654763TRPV4c.966C>A (p.Asn322Lys)
c.*53C>A (n.*53C>A)
n.997C>A
c.864C>A (p.Asn288Lys)
c.825C>A (p.Asn275Lys)
c.1119C>A (p.Asn373Lys)
c.978C>A (p.Asn326Lys)
12g.109798801T>ACA386654765TRPV4c.965A>T (p.Asn322Ile)
c.*52A>T (n.*52A>T)
n.996A>T
c.863A>T (p.Asn288Ile)
c.824A>T (p.Asn275Ile)
c.1118A>T (p.Asn373Ile)
c.977A>T (p.Asn326Ile)
12g.109798801T>CCA6780377TRPV4c.965A>G (p.Asn322Ser)
c.*52A>G (n.*52A>G)
n.996A>G
c.863A>G (p.Asn288Ser)
c.824A>G (p.Asn275Ser)
c.1118A>G (p.Asn373Ser)
c.977A>G (p.Asn326Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.109798801T>GCA386654767TRPV4c.965A>C (p.Asn322Thr)
c.*52A>C (n.*52A>C)
n.996A>C
c.863A>C (p.Asn288Thr)
c.824A>C (p.Asn275Thr)
c.1118A>C (p.Asn373Thr)
c.977A>C (p.Asn326Thr)
12g.109798801T=CA2062573076TRPV4c.965A= (p.Asn322=)
c.*52A= (n.*52A=)
n.996A=
c.863A= (p.Asn288=)
c.824A= (p.Asn275=)
c.1118A= (p.Asn373=)
c.977A= (p.Asn326=)
12g.109798802T>ACA386654770TRPV4c.964A>T (p.Asn322Tyr)
c.*51A>T (n.*51A>T)
n.995A>T
c.862A>T (p.Asn288Tyr)
c.823A>T (p.Asn275Tyr)
c.1117A>T (p.Asn373Tyr)
c.976A>T (p.Asn326Tyr)
12g.109798802T>CCA386654773TRPV4c.964A>G (p.Asn322Asp)
c.*51A>G (n.*51A>G)
n.995A>G
c.862A>G (p.Asn288Asp)
c.823A>G (p.Asn275Asp)
c.1117A>G (p.Asn373Asp)
c.976A>G (p.Asn326Asp)
12g.109798802T>GCA386654776TRPV4c.964A>C (p.Asn322His)
c.*51A>C (n.*51A>C)
n.995A>C
c.862A>C (p.Asn288His)
c.823A>C (p.Asn275His)
c.1117A>C (p.Asn373His)
c.976A>C (p.Asn326His)
12g.109798802_109798819delinsTGCCTCGCGAGTCCTGGCCA2062573080TRPV4c.947_964delinsGCCAGGACTCGCGAGGCA (p.Arg316=)
c.*34_*51delinsGCCAGGACTCGCGAGGCA (n.*34_*51delinsGCCAGGACTCGCGAGGCA)
n.978_995delinsGCCAGGACTCGCGAGGCA
c.845_862delinsGCCAGGACTCGCGAGGCA (p.Arg282=)
c.806_823delinsGCCAGGACTCGCGAGGCA (p.Arg269=)
c.1100_1117delinsGCCAGGACTCGCGAGGCA (p.Arg367=)
c.959_976delinsGCCAGGACTCGCGAGGCA (p.Arg320=)
12g.109798803G>ACA481867486TRPV4c.963C>T (p.Gly321=)
c.*50C>T (n.*50C>T)
n.994C>T
c.861C>T (p.Gly287=)
c.822C>T (p.Gly274=)
c.1116C>T (p.Gly372=)
c.975C>T (p.Gly325=)
12g.109798803G>CCA481867487TRPV4c.963C>G (p.Gly321=)
c.*50C>G (n.*50C>G)
n.994C>G
c.861C>G (p.Gly287=)
c.822C>G (p.Gly274=)
c.1116C>G (p.Gly372=)
c.975C>G (p.Gly325=)
12g.109798803G=CA2062573083TRPV4c.963C= (p.Gly321=)
c.*50C= (n.*50C=)
n.994C=
c.861C= (p.Gly287=)
c.822C= (p.Gly274=)
c.1116C= (p.Gly372=)
c.975C= (p.Gly325=)
12g.109798803G>TCA6780378TRPV4c.963C>A (p.Gly321=)
c.*50C>A (n.*50C>A)
n.994C>A
c.861C>A (p.Gly287=)
c.822C>A (p.Gly274=)
c.1116C>A (p.Gly372=)
c.975C>A (p.Gly325=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109798806_109798822delCA683428204TRPV4c.947_963del (p.Arg316GlnfsTer12)
c.*34_*50del (n.*34_*50del)
n.978_994del
c.845_861del (p.Arg282GlnfsTer12)
c.806_822del (p.Arg269GlnfsTer12)
c.1100_1116del (p.Arg367GlnfsTer12)
c.959_975del (p.Arg320GlnfsTer12)
dbSNP
12g.109798804C>ACA386654780TRPV4c.962G>T (p.Gly321Val)
c.*49G>T (n.*49G>T)
n.993G>T
c.860G>T (p.Gly287Val)
c.821G>T (p.Gly274Val)
c.1115G>T (p.Gly372Val)
c.974G>T (p.Gly325Val)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.109798804C=CA2062573089TRPV4c.962G= (p.Gly321=)
c.*49G= (n.*49G=)
n.993G=
c.860G= (p.Gly287=)
c.821G= (p.Gly274=)
c.1115G= (p.Gly372=)
c.974G= (p.Gly325=)
12g.109798804C>GCA386654783TRPV4c.962G>C (p.Gly321Ala)
c.*49G>C (n.*49G>C)
n.993G>C
c.860G>C (p.Gly287Ala)
c.821G>C (p.Gly274Ala)
c.1115G>C (p.Gly372Ala)
c.974G>C (p.Gly325Ala)
12g.109798804C>TCA386654785TRPV4c.962G>A (p.Gly321Asp)
c.*49G>A (n.*49G>A)
n.993G>A
c.860G>A (p.Gly287Asp)
c.821G>A (p.Gly274Asp)
c.1115G>A (p.Gly372Asp)
c.974G>A (p.Gly325Asp)
gnomAD v4
12g.109798805C>ACA386654788TRPV4c.961G>T (p.Gly321Cys)
c.*48G>T (n.*48G>T)
n.992G>T
c.859G>T (p.Gly287Cys)
c.820G>T (p.Gly274Cys)
c.1114G>T (p.Gly372Cys)
c.973G>T (p.Gly325Cys)
12g.109798805C>GCA386654789TRPV4c.961G>C (p.Gly321Arg)
c.*48G>C (n.*48G>C)
n.992G>C
c.859G>C (p.Gly287Arg)
c.820G>C (p.Gly274Arg)
c.1114G>C (p.Gly372Arg)
c.973G>C (p.Gly325Arg)
12g.109798805C>TCA386654791TRPV4c.961G>A (p.Gly321Ser)
c.*48G>A (n.*48G>A)
n.992G>A
c.859G>A (p.Gly287Ser)
c.820G>A (p.Gly274Ser)
c.1114G>A (p.Gly372Ser)
c.973G>A (p.Gly325Ser)
12g.109798806T>ACA481867496TRPV4c.960A>T (p.Arg320=)
c.*47A>T (n.*47A>T)
n.991A>T
c.858A>T (p.Arg286=)
c.819A>T (p.Arg273=)
c.1113A>T (p.Arg371=)
c.972A>T (p.Arg324=)
12g.109798806T>CCA481867495TRPV4c.960A>G (p.Arg320=)
c.*47A>G (n.*47A>G)
n.991A>G
c.858A>G (p.Arg286=)
c.819A>G (p.Arg273=)
c.1113A>G (p.Arg371=)
c.972A>G (p.Arg324=)
12g.109798806T>GCA481867494TRPV4c.960A>C (p.Arg320=)
c.*47A>C (n.*47A>C)
n.991A>C
c.858A>C (p.Arg286=)
c.819A>C (p.Arg273=)
c.1113A>C (p.Arg371=)
c.972A>C (p.Arg324=)
12g.109798807C>ACA386654796TRPV4c.959G>T (p.Arg320Leu)
c.*46G>T (n.*46G>T)
n.990G>T
c.857G>T (p.Arg286Leu)
c.818G>T (p.Arg273Leu)
c.1112G>T (p.Arg371Leu)
c.971G>T (p.Arg324Leu)
12g.109798807C>GCA386654799TRPV4c.959G>C (p.Arg320Pro)
c.*46G>C (n.*46G>C)
n.990G>C
c.857G>C (p.Arg286Pro)
c.818G>C (p.Arg273Pro)
c.1112G>C (p.Arg371Pro)
c.971G>C (p.Arg324Pro)
12g.109798807C>TCA386654794TRPV4c.959G>A (p.Arg320Gln)
c.*46G>A (n.*46G>A)
n.990G>A
c.857G>A (p.Arg286Gln)
c.818G>A (p.Arg273Gln)
c.1112G>A (p.Arg371Gln)
c.971G>A (p.Arg324Gln)
COSMIC
12g.109798808G>ACA6780379TRPV4c.958C>T (p.Arg320Ter)
c.*45C>T (n.*45C>T)
n.989C>T
c.856C>T (p.Arg286Ter)
c.817C>T (p.Arg273Ter)
c.1111C>T (p.Arg371Ter)
c.970C>T (p.Arg324Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109798808G>CCA386654801TRPV4c.958C>G (p.Arg320Gly)
c.*45C>G (n.*45C>G)
n.989C>G
c.856C>G (p.Arg286Gly)
c.817C>G (p.Arg273Gly)
c.1111C>G (p.Arg371Gly)
c.970C>G (p.Arg324Gly)
12g.109798808G=CA2062573091TRPV4c.958C= (p.Arg320=)
c.*45C= (n.*45C=)
n.989C=
c.856C= (p.Arg286=)
c.817C= (p.Arg273=)
c.1111C= (p.Arg371=)
c.970C= (p.Arg324=)
12g.109798808G>TCA481867500TRPV4c.958C>A (p.Arg320=)
c.*45C>A (n.*45C>A)
n.989C>A
c.856C>A (p.Arg286=)
c.817C>A (p.Arg273=)
c.1111C>A (p.Arg371=)
c.970C>A (p.Arg324=)
gnomAD v4
12g.109798809C>ACA481867501TRPV4c.957G>T (p.Ser319=)
c.*44G>T (n.*44G>T)
n.988G>T
c.855G>T (p.Ser285=)
c.816G>T (p.Ser272=)
c.1110G>T (p.Ser370=)
c.969G>T (p.Ser323=)
ClinVar gnomAD v4
12g.109798809C=CA2062573095TRPV4c.957G= (p.Ser319=)
c.*44G= (n.*44G=)
n.988G=
c.855G= (p.Ser285=)
c.816G= (p.Ser272=)
c.1110G= (p.Ser370=)
c.969G= (p.Ser323=)
12g.109798809C>GCA6780380TRPV4c.957G>C (p.Ser319=)
c.*44G>C (n.*44G>C)
n.988G>C
c.855G>C (p.Ser285=)
c.816G>C (p.Ser272=)
c.1110G>C (p.Ser370=)
c.969G>C (p.Ser323=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109798809C>TCA6780381TRPV4c.957G>A (p.Ser319=)
c.*44G>A (n.*44G>A)
n.988G>A
c.855G>A (p.Ser285=)
c.816G>A (p.Ser272=)
c.1110G>A (p.Ser370=)
c.969G>A (p.Ser323=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109798810G>ACA6780382TRPV4c.956C>T (p.Ser319Leu)
c.*43C>T (n.*43C>T)
n.987C>T
c.854C>T (p.Ser285Leu)
c.815C>T (p.Ser272Leu)
c.1109C>T (p.Ser370Leu)
c.968C>T (p.Ser323Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109798810G>CCA386654808TRPV4c.956C>G (p.Ser319Trp)
c.*43C>G (n.*43C>G)
n.987C>G
c.854C>G (p.Ser285Trp)
c.815C>G (p.Ser272Trp)
c.1109C>G (p.Ser370Trp)
c.968C>G (p.Ser323Trp)
12g.109798810G=CA2062573101TRPV4c.956C= (p.Ser319=)
c.*43C= (n.*43C=)
n.987C=
c.854C= (p.Ser285=)
c.815C= (p.Ser272=)
c.1109C= (p.Ser370=)
c.968C= (p.Ser323=)
12g.109798810G>TCA386654809TRPV4c.956C>A (p.Ser319Ter)
c.*43C>A (n.*43C>A)
n.987C>A
c.854C>A (p.Ser285Ter)
c.815C>A (p.Ser272Ter)
c.1109C>A (p.Ser370Ter)
c.968C>A (p.Ser323Ter)
12g.109798811A>CCA386654815TRPV4c.955T>G (p.Ser319Ala)
c.*42T>G (n.*42T>G)
n.986T>G
c.853T>G (p.Ser285Ala)
c.814T>G (p.Ser272Ala)
c.1108T>G (p.Ser370Ala)
c.967T>G (p.Ser323Ala)
12g.109798811A>GCA386654810TRPV4c.955T>C (p.Ser319Pro)
c.*42T>C (n.*42T>C)
n.986T>C
c.853T>C (p.Ser285Pro)
c.814T>C (p.Ser272Pro)
c.1108T>C (p.Ser370Pro)
c.967T>C (p.Ser323Pro)
12g.109798811A>TCA386654813TRPV4c.955T>A (p.Ser319Thr)
c.*42T>A (n.*42T>A)
n.986T>A
c.853T>A (p.Ser285Thr)
c.814T>A (p.Ser272Thr)
c.1108T>A (p.Ser370Thr)
c.967T>A (p.Ser323Thr)
12g.109798812G>ACA481867505TRPV4c.954C>T (p.Asp318=)
c.*41C>T (n.*41C>T)
n.985C>T
c.852C>T (p.Asp284=)
c.813C>T (p.Asp271=)
c.1107C>T (p.Asp369=)
c.966C>T (p.Asp322=)
12g.109798812G>CCA386654817TRPV4c.954C>G (p.Asp318Glu)
c.*41C>G (n.*41C>G)
n.985C>G
c.852C>G (p.Asp284Glu)
c.813C>G (p.Asp271Glu)
c.1107C>G (p.Asp369Glu)
c.966C>G (p.Asp322Glu)
12g.109798812G>TCA386654818TRPV4c.954C>A (p.Asp318Glu)
c.*41C>A (n.*41C>A)
n.985C>A
c.852C>A (p.Asp284Glu)
c.813C>A (p.Asp271Glu)
c.1107C>A (p.Asp369Glu)
c.966C>A (p.Asp322Glu)
12g.109798813T>ACA386654822TRPV4c.953A>T (p.Asp318Val)
c.*40A>T (n.*40A>T)
n.984A>T
c.851A>T (p.Asp284Val)
c.812A>T (p.Asp271Val)
c.1106A>T (p.Asp369Val)
c.965A>T (p.Asp322Val)
12g.109798813T>CCA386654823TRPV4c.953A>G (p.Asp318Gly)
c.*40A>G (n.*40A>G)
n.984A>G
c.851A>G (p.Asp284Gly)
c.812A>G (p.Asp271Gly)
c.1106A>G (p.Asp369Gly)
c.965A>G (p.Asp322Gly)
12g.109798813T>GCA386654826TRPV4c.953A>C (p.Asp318Ala)
c.*40A>C (n.*40A>C)
n.984A>C
c.851A>C (p.Asp284Ala)
c.812A>C (p.Asp271Ala)
c.1106A>C (p.Asp369Ala)
c.965A>C (p.Asp322Ala)
12g.109798814C>ACA386654829TRPV4c.952G>T (p.Asp318Tyr)
c.*39G>T (n.*39G>T)
n.983G>T
c.850G>T (p.Asp284Tyr)
c.811G>T (p.Asp271Tyr)
c.1105G>T (p.Asp369Tyr)
c.964G>T (p.Asp322Tyr)
12g.109798814C>GCA386654834TRPV4c.952G>C (p.Asp318His)
c.*39G>C (n.*39G>C)
n.983G>C
c.850G>C (p.Asp284His)
c.811G>C (p.Asp271His)
c.1105G>C (p.Asp369His)
c.964G>C (p.Asp322His)
12g.109798814C>TCA386654831TRPV4c.952G>A (p.Asp318Asn)
c.*39G>A (n.*39G>A)
n.983G>A
c.850G>A (p.Asp284Asn)
c.811G>A (p.Asp271Asn)
c.1105G>A (p.Asp369Asn)
c.964G>A (p.Asp322Asn)
12g.109798815C>ACA386654837TRPV4c.951G>T (p.Gln317His)
c.*38G>T (n.*38G>T)
n.982G>T
c.849G>T (p.Gln283His)
c.810G>T (p.Gln270His)
c.1104G>T (p.Gln368His)
c.963G>T (p.Gln321His)
12g.109798815C>GCA386654839TRPV4c.951G>C (p.Gln317His)
c.*38G>C (n.*38G>C)
n.982G>C
c.849G>C (p.Gln283His)
c.810G>C (p.Gln270His)
c.1104G>C (p.Gln368His)
c.963G>C (p.Gln321His)
12g.109798815C>TCA481867507TRPV4c.951G>A (p.Gln317=)
c.*38G>A (n.*38G>A)
n.982G>A
c.849G>A (p.Gln283=)
c.810G>A (p.Gln270=)
c.1104G>A (p.Gln368=)
c.963G>A (p.Gln321=)
gnomAD v4
12g.109798816T>ACA386654841TRPV4c.950A>T (p.Gln317Leu)
c.*37A>T (n.*37A>T)
n.981A>T
c.848A>T (p.Gln283Leu)
c.809A>T (p.Gln270Leu)
c.1103A>T (p.Gln368Leu)
c.962A>T (p.Gln321Leu)
12g.109798816T>CCA386654844TRPV4c.950A>G (p.Gln317Arg)
c.*37A>G (n.*37A>G)
n.981A>G
c.848A>G (p.Gln283Arg)
c.809A>G (p.Gln270Arg)
c.1103A>G (p.Gln368Arg)
c.962A>G (p.Gln321Arg)
12g.109798816T>GCA386654847TRPV4c.950A>C (p.Gln317Pro)
c.*37A>C (n.*37A>C)
n.981A>C
c.848A>C (p.Gln283Pro)
c.809A>C (p.Gln270Pro)
c.1103A>C (p.Gln368Pro)
c.962A>C (p.Gln321Pro)
12g.109798817G>ACA386654849TRPV4c.949C>T (p.Gln317Ter)
c.*36C>T (n.*36C>T)
n.980C>T
c.847C>T (p.Gln283Ter)
c.808C>T (p.Gln270Ter)
c.1102C>T (p.Gln368Ter)
c.961C>T (p.Gln321Ter)
12g.109798817G>CCA386654850TRPV4c.949C>G (p.Gln317Glu)
c.*36C>G (n.*36C>G)
n.980C>G
c.847C>G (p.Gln283Glu)
c.808C>G (p.Gln270Glu)
c.1102C>G (p.Gln368Glu)
c.961C>G (p.Gln321Glu)
12g.109798817G=CA2062573102TRPV4c.949C= (p.Gln317=)
c.*36C= (n.*36C=)
n.980C=
c.847C= (p.Gln283=)
c.808C= (p.Gln270=)
c.1102C= (p.Gln368=)
c.961C= (p.Gln321=)
12g.109798817G>TCA386654853TRPV4c.949C>A (p.Gln317Lys)
c.*36C>A (n.*36C>A)
n.980C>A
c.847C>A (p.Gln283Lys)
c.808C>A (p.Gln270Lys)
c.1102C>A (p.Gln368Lys)
c.961C>A (p.Gln321Lys)
dbSNP gnomAD v2 gnomAD v4
12g.109798818delCA2739277303TRPV4c.949del (p.Gln317ArgfsTer?)
c.*36del (n.*36del)
n.980del
c.847del (p.Gln283ArgfsTer?)
c.808del (p.Gln270ArgfsTer?)
c.1102del (p.Gln368ArgfsTer?)
c.961del (p.Gln321ArgfsTer?)
ClinVar
12g.109798818G>ACA481867508TRPV4c.948C>T (p.Arg316=)
c.*35C>T (n.*35C>T)
n.979C>T
c.846C>T (p.Arg282=)
c.807C>T (p.Arg269=)
c.1101C>T (p.Arg367=)
c.960C>T (p.Arg320=)
dbSNP gnomAD v2 gnomAD v4
12g.109798818G>CCA481867509TRPV4c.948C>G (p.Arg316=)
c.*35C>G (n.*35C>G)
n.979C>G
c.846C>G (p.Arg282=)
c.807C>G (p.Arg269=)
c.1101C>G (p.Arg367=)
c.960C>G (p.Arg320=)
12g.109798818G=CA2062573105TRPV4c.948C= (p.Arg316=)
c.*35C= (n.*35C=)
n.979C=
c.846C= (p.Arg282=)
c.807C= (p.Arg269=)
c.1101C= (p.Arg367=)
c.960C= (p.Arg320=)
12g.109798818G>TCA481867510TRPV4c.948C>A (p.Arg316=)
c.*35C>A (n.*35C>A)
n.979C>A
c.846C>A (p.Arg282=)
c.807C>A (p.Arg269=)
c.1101C>A (p.Arg367=)
c.960C>A (p.Arg320=)
12g.109798819C>ACA386654855TRPV4c.947G>T (p.Arg316Leu)
c.*34G>T (n.*34G>T)
n.978G>T
c.845G>T (p.Arg282Leu)
c.806G>T (p.Arg269Leu)
c.1100G>T (p.Arg367Leu)
c.959G>T (p.Arg320Leu)
ClinVar dbSNP
12g.109798819C=CA2062573112TRPV4c.947G= (p.Arg316=)
c.*34G= (n.*34G=)
n.978G=
c.845G= (p.Arg282=)
c.806G= (p.Arg269=)
c.1100G= (p.Arg367=)
c.959G= (p.Arg320=)
12g.109798819C>GCA386654858TRPV4c.947G>C (p.Arg316Pro)
c.*34G>C (n.*34G>C)
n.978G>C
c.845G>C (p.Arg282Pro)
c.806G>C (p.Arg269Pro)
c.1100G>C (p.Arg367Pro)
c.959G>C (p.Arg320Pro)
12g.109798819C>TCA259821TRPV4c.947G>A (p.Arg316His)
c.*34G>A (n.*34G>A)
n.978G>A
c.845G>A (p.Arg282His)
c.806G>A (p.Arg269His)
c.1100G>A (p.Arg367His)
c.959G>A (p.Arg320His)
ClinVar dbSNP
12g.109798820G>ACA117182TRPV4c.946C>T (p.Arg316Cys)
c.*33C>T (n.*33C>T)
n.977C>T
c.844C>T (p.Arg282Cys)
c.805C>T (p.Arg269Cys)
c.1099C>T (p.Arg367Cys)
c.958C>T (p.Arg320Cys)
ClinVar dbSNP COSMIC
12g.109798820G>CCA386654863TRPV4c.946C>G (p.Arg316Gly)
c.*33C>G (n.*33C>G)
n.977C>G
c.844C>G (p.Arg282Gly)
c.805C>G (p.Arg269Gly)
c.1099C>G (p.Arg367Gly)
c.958C>G (p.Arg320Gly)
12g.109798820G=CA2062573119TRPV4c.946C= (p.Arg316=)
c.*33C= (n.*33C=)
n.977C=
c.844C= (p.Arg282=)
c.805C= (p.Arg269=)
c.1099C= (p.Arg367=)
c.958C= (p.Arg320=)
12g.109798820G>TCA16619426TRPV4c.946C>A (p.Arg316Ser)
c.*33C>A (n.*33C>A)
n.977C>A
c.844C>A (p.Arg282Ser)
c.805C>A (p.Arg269Ser)
c.1099C>A (p.Arg367Ser)
c.958C>A (p.Arg320Ser)
ClinVar dbSNP
12g.109798821C>ACA481867511TRPV4c.945G>T (p.Arg315=)
c.*32G>T (n.*32G>T)
n.976G>T
c.843G>T (p.Arg281=)
c.804G>T (p.Arg268=)
c.1098G>T (p.Arg366=)
c.957G>T (p.Arg319=)
12g.109798821C>GCA481867512TRPV4c.945G>C (p.Arg315=)
c.*32G>C (n.*32G>C)
n.976G>C
c.843G>C (p.Arg281=)
c.804G>C (p.Arg268=)
c.1098G>C (p.Arg366=)
c.957G>C (p.Arg319=)
12g.109798821C>TCA481867513TRPV4c.945G>A (p.Arg315=)
c.*32G>A (n.*32G>A)
n.976G>A
c.843G>A (p.Arg281=)
c.804G>A (p.Arg268=)
c.1098G>A (p.Arg366=)
c.957G>A (p.Arg319=)
12g.109798822C>ACA386654868TRPV4c.944G>T (p.Arg315Leu)
c.*31G>T (n.*31G>T)
n.975G>T
c.842G>T (p.Arg281Leu)
c.803G>T (p.Arg268Leu)
c.1097G>T (p.Arg366Leu)
c.956G>T (p.Arg319Leu)
12g.109798822C=CA2062573125TRPV4c.944G= (p.Arg315=)
c.*31G= (n.*31G=)
n.975G=
c.842G= (p.Arg281=)
c.803G= (p.Arg268=)
c.1097G= (p.Arg366=)
c.956G= (p.Arg319=)
12g.109798822C>GCA386654871TRPV4c.944G>C (p.Arg315Pro)
c.*31G>C (n.*31G>C)
n.975G>C
c.842G>C (p.Arg281Pro)
c.803G>C (p.Arg268Pro)
c.1097G>C (p.Arg366Pro)
c.956G>C (p.Arg319Pro)
dbSNP gnomAD v3 gnomAD v4
12g.109798822C>TCA16619427TRPV4c.944G>A (p.Arg315Gln)
c.*31G>A (n.*31G>A)
n.975G>A
c.842G>A (p.Arg281Gln)
c.803G>A (p.Arg268Gln)
c.1097G>A (p.Arg366Gln)
c.956G>A (p.Arg319Gln)
ClinVar dbSNP
12g.109798823G>ACA117178TRPV4c.943C>T (p.Arg315Trp)
c.*30C>T (n.*30C>T)
n.974C>T
c.841C>T (p.Arg281Trp)
c.802C>T (p.Arg268Trp)
c.1096C>T (p.Arg366Trp)
c.955C>T (p.Arg319Trp)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.109798823G>CCA386654876TRPV4c.943C>G (p.Arg315Gly)
c.*30C>G (n.*30C>G)
n.974C>G
c.841C>G (p.Arg281Gly)
c.802C>G (p.Arg268Gly)
c.1096C>G (p.Arg366Gly)
c.955C>G (p.Arg319Gly)
ClinVar dbSNP
12g.109798823G=CA2062573129TRPV4c.943C= (p.Arg315=)
c.*30C= (n.*30C=)
n.974C=
c.841C= (p.Arg281=)
c.802C= (p.Arg268=)
c.1096C= (p.Arg366=)
c.955C= (p.Arg319=)
12g.109798823G>TCA481867514TRPV4c.943C>A (p.Arg315=)
c.*30C>A (n.*30C>A)
n.974C>A
c.841C>A (p.Arg281=)
c.802C>A (p.Arg268=)
c.1096C>A (p.Arg366=)
c.955C>A (p.Arg319=)
12g.109798824C>ACA386654879TRPV4c.942G>T (p.Met314Ile)
c.*29G>T (n.*29G>T)
n.973G>T
c.840G>T (p.Met280Ile)
c.801G>T (p.Met267Ile)
c.1095G>T (p.Met365Ile)
c.954G>T (p.Met318Ile)
12g.109798824C=CA2062573132TRPV4c.942G= (p.Met314=)
c.*29G= (n.*29G=)
n.973G=
c.840G= (p.Met280=)
c.801G= (p.Met267=)
c.1095G= (p.Met365=)
c.954G= (p.Met318=)
12g.109798824C>GCA386654881TRPV4c.942G>C (p.Met314Ile)
c.*29G>C (n.*29G>C)
n.973G>C
c.840G>C (p.Met280Ile)
c.801G>C (p.Met267Ile)
c.1095G>C (p.Met365Ile)
c.954G>C (p.Met318Ile)
12g.109798824C>TCA386654883TRPV4c.942G>A (p.Met314Ile)
c.*29G>A (n.*29G>A)
n.973G>A
c.840G>A (p.Met280Ile)
c.801G>A (p.Met267Ile)
c.1095G>A (p.Met365Ile)
c.954G>A (p.Met318Ile)
dbSNP gnomAD v3 gnomAD v4
12g.109798825A>CCA386654886TRPV4c.941T>G (p.Met314Arg)
c.*28T>G (n.*28T>G)
n.972T>G
c.839T>G (p.Met280Arg)
c.800T>G (p.Met267Arg)
c.1094T>G (p.Met365Arg)
c.953T>G (p.Met318Arg)
12g.109798825A>GCA386654887TRPV4c.941T>C (p.Met314Thr)
c.*28T>C (n.*28T>C)
n.972T>C
c.839T>C (p.Met280Thr)
c.800T>C (p.Met267Thr)
c.1094T>C (p.Met365Thr)
c.953T>C (p.Met318Thr)
12g.109798825A>TCA386654890TRPV4c.941T>A (p.Met314Lys)
c.*28T>A (n.*28T>A)
n.972T>A
c.839T>A (p.Met280Lys)
c.800T>A (p.Met267Lys)
c.1094T>A (p.Met365Lys)
c.953T>A (p.Met318Lys)
12g.109798826T>ACA386654893TRPV4c.940A>T (p.Met314Leu)
c.*27A>T (n.*27A>T)
n.971A>T
c.838A>T (p.Met280Leu)
c.799A>T (p.Met267Leu)
c.1093A>T (p.Met365Leu)
c.952A>T (p.Met318Leu)
12g.109798826T>CCA6780383TRPV4c.940A>G (p.Met314Val)
c.*27A>G (n.*27A>G)
n.971A>G
c.838A>G (p.Met280Val)
c.799A>G (p.Met267Val)
c.1093A>G (p.Met365Val)
c.952A>G (p.Met318Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109798826T>GCA386654897TRPV4c.940A>C (p.Met314Leu)
c.*27A>C (n.*27A>C)
n.971A>C
c.838A>C (p.Met280Leu)
c.799A>C (p.Met267Leu)
c.1093A>C (p.Met365Leu)
c.952A>C (p.Met318Leu)
12g.109798826T=CA2062573135TRPV4c.940A= (p.Met314=)
c.*27A= (n.*27A=)
n.971A=
c.838A= (p.Met280=)
c.799A= (p.Met267=)
c.1093A= (p.Met365=)
c.952A= (p.Met318=)
12g.109798827G>ACA481867515TRPV4c.939C>T (p.Asp313=)
c.*26C>T (n.*26C>T)
n.970C>T
c.837C>T (p.Asp279=)
c.798C>T (p.Asp266=)
c.1092C>T (p.Asp364=)
c.951C>T (p.Asp317=)
12g.109798827G>CCA386654899TRPV4c.939C>G (p.Asp313Glu)
c.*26C>G (n.*26C>G)
n.970C>G
c.837C>G (p.Asp279Glu)
c.798C>G (p.Asp266Glu)
c.1092C>G (p.Asp364Glu)
c.951C>G (p.Asp317Glu)
12g.109798827G>TCA386654901TRPV4c.939C>A (p.Asp313Glu)
c.*26C>A (n.*26C>A)
n.970C>A
c.837C>A (p.Asp279Glu)
c.798C>A (p.Asp266Glu)
c.1092C>A (p.Asp364Glu)
c.951C>A (p.Asp317Glu)
12g.109798828T>ACA386654904TRPV4c.938A>T (p.Asp313Val)
c.*25A>T (n.*25A>T)
n.969A>T
c.836A>T (p.Asp279Val)
c.797A>T (p.Asp266Val)
c.1091A>T (p.Asp364Val)
c.950A>T (p.Asp317Val)
12g.109798828T>CCA386654907TRPV4c.938A>G (p.Asp313Gly)
c.*25A>G (n.*25A>G)
n.969A>G
c.836A>G (p.Asp279Gly)
c.797A>G (p.Asp266Gly)
c.1091A>G (p.Asp364Gly)
c.950A>G (p.Asp317Gly)
12g.109798828T>GCA386654908TRPV4c.938A>C (p.Asp313Ala)
c.*25A>C (n.*25A>C)
n.969A>C
c.836A>C (p.Asp279Ala)
c.797A>C (p.Asp266Ala)
c.1091A>C (p.Asp364Ala)
c.950A>C (p.Asp317Ala)
12g.109798829C>ACA386654911TRPV4c.937G>T (p.Asp313Tyr)
c.*24G>T (n.*24G>T)
n.968G>T
c.835G>T (p.Asp279Tyr)
c.796G>T (p.Asp266Tyr)
c.1090G>T (p.Asp364Tyr)
c.949G>T (p.Asp317Tyr)
12g.109798829C>GCA386654914TRPV4c.937G>C (p.Asp313His)
c.*24G>C (n.*24G>C)
n.968G>C
c.835G>C (p.Asp279His)
c.796G>C (p.Asp266His)
c.1090G>C (p.Asp364His)
c.949G>C (p.Asp317His)
12g.109798829C>TCA386654916TRPV4c.937G>A (p.Asp313Asn)
c.*24G>A (n.*24G>A)
n.968G>A
c.835G>A (p.Asp279Asn)
c.796G>A (p.Asp266Asn)
c.1090G>A (p.Asp364Asn)
c.949G>A (p.Asp317Asn)
12g.109798830C>ACA481867516TRPV4c.936G>T (p.Ala312=)
c.*23G>T (n.*23G>T)
n.967G>T
c.834G>T (p.Ala278=)
c.795G>T (p.Ala265=)
c.1089G>T (p.Ala363=)
c.948G>T (p.Ala316=)
12g.109798830C=CA2062573141TRPV4c.936G= (p.Ala312=)
c.*23G= (n.*23G=)
n.967G=
c.834G= (p.Ala278=)
c.795G= (p.Ala265=)
c.1089G= (p.Ala363=)
c.948G= (p.Ala316=)
12g.109798830C>GCA481867517TRPV4c.936G>C (p.Ala312=)
c.*23G>C (n.*23G>C)
n.967G>C
c.834G>C (p.Ala278=)
c.795G>C (p.Ala265=)
c.1089G>C (p.Ala363=)
c.948G>C (p.Ala316=)
12g.109798830C>TCA6780384TRPV4c.936G>A (p.Ala312=)
c.*23G>A (n.*23G>A)
n.967G>A
c.834G>A (p.Ala278=)
c.795G>A (p.Ala265=)
c.1089G>A (p.Ala363=)
c.948G>A (p.Ala316=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109798831G>ACA6780385TRPV4c.935C>T (p.Ala312Val)
c.*22C>T (n.*22C>T)
n.966C>T
c.833C>T (p.Ala278Val)
c.794C>T (p.Ala265Val)
c.1088C>T (p.Ala363Val)
c.947C>T (p.Ala316Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.109798831G>CCA386654921TRPV4c.935C>G (p.Ala312Gly)
c.*22C>G (n.*22C>G)
n.966C>G
c.833C>G (p.Ala278Gly)
c.794C>G (p.Ala265Gly)
c.1088C>G (p.Ala363Gly)
c.947C>G (p.Ala316Gly)
gnomAD v4
12g.109798831G=CA2062573144TRPV4c.935C= (p.Ala312=)
c.*22C= (n.*22C=)
n.966C=
c.833C= (p.Ala278=)
c.794C= (p.Ala265=)
c.1088C= (p.Ala363=)
c.947C= (p.Ala316=)
12g.109798831G>TCA386654922TRPV4c.935C>A (p.Ala312Glu)
c.*22C>A (n.*22C>A)
n.966C>A
c.833C>A (p.Ala278Glu)
c.794C>A (p.Ala265Glu)
c.1088C>A (p.Ala363Glu)
c.947C>A (p.Ala316Glu)
gnomAD v4
12g.109798832C>ACA386654925TRPV4c.934G>T (p.Ala312Ser)
c.*21G>T (n.*21G>T)
n.965G>T
c.832G>T (p.Ala278Ser)
c.793G>T (p.Ala265Ser)
c.1087G>T (p.Ala363Ser)
c.946G>T (p.Ala316Ser)
12g.109798832C>GCA386654927TRPV4c.934G>C (p.Ala312Pro)
c.*21G>C (n.*21G>C)
n.965G>C
c.832G>C (p.Ala278Pro)
c.793G>C (p.Ala265Pro)
c.1087G>C (p.Ala363Pro)
c.946G>C (p.Ala316Pro)
12g.109798832C>TCA386654930TRPV4c.934G>A (p.Ala312Thr)
c.*21G>A (n.*21G>A)
n.965G>A
c.832G>A (p.Ala278Thr)
c.793G>A (p.Ala265Thr)
c.1087G>A (p.Ala363Thr)
c.946G>A (p.Ala316Thr)
12g.109798833C>ACA386654934TRPV4c.933G>T (p.Lys311Asn)
c.*20G>T (n.*20G>T)
n.964G>T
c.831G>T (p.Lys277Asn)
c.792G>T (p.Lys264Asn)
c.1086G>T (p.Lys362Asn)
c.945G>T (p.Lys315Asn)
COSMIC
12g.109798833C>GCA386654932TRPV4c.933G>C (p.Lys311Asn)
c.*20G>C (n.*20G>C)
n.964G>C
c.831G>C (p.Lys277Asn)
c.792G>C (p.Lys264Asn)
c.1086G>C (p.Lys362Asn)
c.945G>C (p.Lys315Asn)
12g.109798833C>TCA481867518TRPV4c.933G>A (p.Lys311=)
c.*20G>A (n.*20G>A)
n.964G>A
c.831G>A (p.Lys277=)
c.792G>A (p.Lys264=)
c.1086G>A (p.Lys362=)
c.945G>A (p.Lys315=)
gnomAD v4
12g.109798834T>ACA386654938TRPV4c.932A>T (p.Lys311Met)
c.*19A>T (n.*19A>T)
n.963A>T
c.830A>T (p.Lys277Met)
c.791A>T (p.Lys264Met)
c.1085A>T (p.Lys362Met)
c.944A>T (p.Lys315Met)
12g.109798834T>CCA386654943TRPV4c.932A>G (p.Lys311Arg)
c.*19A>G (n.*19A>G)
n.963A>G
c.830A>G (p.Lys277Arg)
c.791A>G (p.Lys264Arg)
c.1085A>G (p.Lys362Arg)
c.944A>G (p.Lys315Arg)
gnomAD v4
12g.109798834T>GCA386654940TRPV4c.932A>C (p.Lys311Thr)
c.*19A>C (n.*19A>C)
n.963A>C
c.830A>C (p.Lys277Thr)
c.791A>C (p.Lys264Thr)
c.1085A>C (p.Lys362Thr)
c.944A>C (p.Lys315Thr)
12g.109798835T>ACA386654946TRPV4c.931A>T (p.Lys311Ter)
c.*18A>T (n.*18A>T)
n.962A>T
c.829A>T (p.Lys277Ter)
c.790A>T (p.Lys264Ter)
c.1084A>T (p.Lys362Ter)
c.943A>T (p.Lys315Ter)
gnomAD v4
12g.109798835T>CCA386654950TRPV4c.931A>G (p.Lys311Glu)
c.*18A>G (n.*18A>G)
n.962A>G
c.829A>G (p.Lys277Glu)
c.790A>G (p.Lys264Glu)
c.1084A>G (p.Lys362Glu)
c.943A>G (p.Lys315Glu)
12g.109798835T>GCA386654948TRPV4c.931A>C (p.Lys311Gln)
c.*18A>C (n.*18A>C)
n.962A>C
c.829A>C (p.Lys277Gln)
c.790A>C (p.Lys264Gln)
c.1084A>C (p.Lys362Gln)
c.943A>C (p.Lys315Gln)
12g.109798836C>ACA386654952TRPV4c.930G>T (p.Lys310Asn)
c.*17G>T (n.*17G>T)
n.961G>T
c.828G>T (p.Lys276Asn)
c.789G>T (p.Lys263Asn)
c.1083G>T (p.Lys361Asn)
c.942G>T (p.Lys314Asn)
12g.109798836C>GCA386654953TRPV4c.930G>C (p.Lys310Asn)
c.*17G>C (n.*17G>C)
n.961G>C
c.828G>C (p.Lys276Asn)
c.789G>C (p.Lys263Asn)
c.1083G>C (p.Lys361Asn)
c.942G>C (p.Lys314Asn)
12g.109798836C>TCA481867519TRPV4c.930G>A (p.Lys310=)
c.*17G>A (n.*17G>A)
n.961G>A
c.828G>A (p.Lys276=)
c.789G>A (p.Lys263=)
c.1083G>A (p.Lys361=)
c.942G>A (p.Lys314=)
12g.109798837T>ACA386654957TRPV4c.929A>T (p.Lys310Met)
c.*16A>T (n.*16A>T)
n.960A>T
c.827A>T (p.Lys276Met)
c.788A>T (p.Lys263Met)
c.1082A>T (p.Lys361Met)
c.941A>T (p.Lys314Met)
12g.109798837T>CCA386654962TRPV4c.929A>G (p.Lys310Arg)
c.*16A>G (n.*16A>G)
n.960A>G
c.827A>G (p.Lys276Arg)
c.788A>G (p.Lys263Arg)
c.1082A>G (p.Lys361Arg)
c.941A>G (p.Lys314Arg)
12g.109798837T>GCA386654959TRPV4c.929A>C (p.Lys310Thr)
c.*16A>C (n.*16A>C)
n.960A>C
c.827A>C (p.Lys276Thr)
c.788A>C (p.Lys263Thr)
c.1082A>C (p.Lys361Thr)
c.941A>C (p.Lys314Thr)
12g.109798838T>ACA386654964TRPV4c.928A>T (p.Lys310Ter)
c.*15A>T (n.*15A>T)
n.959A>T
c.826A>T (p.Lys276Ter)
c.787A>T (p.Lys263Ter)
c.1081A>T (p.Lys361Ter)
c.940A>T (p.Lys314Ter)
12g.109798838T>CCA386654966TRPV4c.928A>G (p.Lys310Glu)
c.*15A>G (n.*15A>G)
n.959A>G
c.826A>G (p.Lys276Glu)
c.787A>G (p.Lys263Glu)
c.1081A>G (p.Lys361Glu)
c.940A>G (p.Lys314Glu)
ClinVar
12g.109798838T>GCA386654967TRPV4c.928A>C (p.Lys310Gln)
c.*15A>C (n.*15A>C)
n.959A>C
c.826A>C (p.Lys276Gln)
c.787A>C (p.Lys263Gln)
c.1081A>C (p.Lys361Gln)
c.940A>C (p.Lys314Gln)
12g.109798839G>ACA481867520TRPV4c.927C>T (p.His309=)
c.*14C>T (n.*14C>T)
n.958C>T
c.825C>T (p.His275=)
c.786C>T (p.His262=)
c.1080C>T (p.His360=)
c.939C>T (p.His313=)
dbSNP gnomAD v4
12g.109798839G>CCA386654968TRPV4c.927C>G (p.His309Gln)
c.*14C>G (n.*14C>G)
n.958C>G
c.825C>G (p.His275Gln)
c.786C>G (p.His262Gln)
c.1080C>G (p.His360Gln)
c.939C>G (p.His313Gln)
12g.109798839G=CA2062573146TRPV4c.927C= (p.His309=)
c.*14C= (n.*14C=)
n.958C=
c.825C= (p.His275=)
c.786C= (p.His262=)
c.1080C= (p.His360=)
c.939C= (p.His313=)
12g.109798839G>TCA386654970TRPV4c.927C>A (p.His309Gln)
c.*14C>A (n.*14C>A)
n.958C>A
c.825C>A (p.His275Gln)
c.786C>A (p.His262Gln)
c.1080C>A (p.His360Gln)
c.939C>A (p.His313Gln)
gnomAD v4
12g.109798840T>ACA386654973TRPV4c.926A>T (p.His309Leu)
c.*13A>T (n.*13A>T)
n.957A>T
c.824A>T (p.His275Leu)
c.785A>T (p.His262Leu)
c.1079A>T (p.His360Leu)
c.938A>T (p.His313Leu)
12g.109798840T>CCA386654974TRPV4c.926A>G (p.His309Arg)
c.*13A>G (n.*13A>G)
n.957A>G
c.824A>G (p.His275Arg)
c.785A>G (p.His262Arg)
c.1079A>G (p.His360Arg)
c.938A>G (p.His313Arg)
dbSNP
12g.109798840T>GCA386654975TRPV4c.926A>C (p.His309Pro)
c.*13A>C (n.*13A>C)
n.957A>C
c.824A>C (p.His275Pro)
c.785A>C (p.His262Pro)
c.1079A>C (p.His360Pro)
c.938A>C (p.His313Pro)
12g.109798840T=CA2062573148TRPV4c.926A= (p.His309=)
c.*13A= (n.*13A=)
n.957A=
c.824A= (p.His275=)
c.785A= (p.His262=)
c.1079A= (p.His360=)
c.938A= (p.His313=)
12g.109798841G>ACA386654977TRPV4c.925C>T (p.His309Tyr)
c.*12C>T (n.*12C>T)
n.956C>T
c.823C>T (p.His275Tyr)
c.784C>T (p.His262Tyr)
c.1078C>T (p.His360Tyr)
c.937C>T (p.His313Tyr)
ClinVar dbSNP
12g.109798841G>CCA386654979TRPV4c.925C>G (p.His309Asp)
c.*12C>G (n.*12C>G)
n.956C>G
c.823C>G (p.His275Asp)
c.784C>G (p.His262Asp)
c.1078C>G (p.His360Asp)
c.937C>G (p.His313Asp)
12g.109798841G=CA2062573150TRPV4c.925C= (p.His309=)
c.*12C= (n.*12C=)
n.956C=
c.823C= (p.His275=)
c.784C= (p.His262=)
c.1078C= (p.His360=)
c.937C= (p.His313=)
12g.109798841G>TCA386654980TRPV4c.925C>A (p.His309Asn)
c.*12C>A (n.*12C>A)
n.956C>A
c.823C>A (p.His275Asn)
c.784C>A (p.His262Asn)
c.1078C>A (p.His360Asn)
c.937C>A (p.His313Asn)
12g.109798845dupCA2575286498TRPV4c.925dup (p.His309ProfsTer25)
c.*12dup (n.*12dup)
n.956dup
c.823dup (p.His275ProfsTer25)
c.784dup (p.His262ProfsTer25)
c.1078dup (p.His360ProfsTer25)
c.937dup (p.His313ProfsTer25)
12g.109798842_109798845delCA2555432096TRPV4c.922_925del (p.Pro308ThrfsTer?)
c.*9_*12del (n.*9_*12del)
n.953_956del
c.820_823del (p.Pro274ThrfsTer?)
c.781_784del (p.Pro261ThrfsTer?)
c.1075_1078del (p.Pro359ThrfsTer?)
c.934_937del (p.Pro312ThrfsTer?)
12g.109798841_109798842insTCA2797420596TRPV4c.924_925insA (p.His309ThrfsTer25)
c.*11_*12insA (n.*11_*12insA)
n.955_956insA
c.822_823insA (p.His275ThrfsTer25)
c.783_784insA (p.His262ThrfsTer25)
c.1077_1078insA (p.His360ThrfsTer25)
c.936_937insA (p.His313ThrfsTer25)
12g.109798842G>ACA481867523TRPV4c.924C>T (p.Pro308=)
c.*11C>T (n.*11C>T)
n.955C>T
c.822C>T (p.Pro274=)
c.783C>T (p.Pro261=)
c.1077C>T (p.Pro359=)
c.936C>T (p.Pro312=)
dbSNP gnomAD v3 gnomAD v4
12g.109798842G>CCA481867522TRPV4c.924C>G (p.Pro308=)
c.*11C>G (n.*11C>G)
n.955C>G
c.822C>G (p.Pro274=)
c.783C>G (p.Pro261=)
c.1077C>G (p.Pro359=)
c.936C>G (p.Pro312=)
12g.109798842G=CA2062573153TRPV4c.924C= (p.Pro308=)
c.*11C= (n.*11C=)
n.955C=
c.822C= (p.Pro274=)
c.783C= (p.Pro261=)
c.1077C= (p.Pro359=)
c.936C= (p.Pro312=)
12g.109798842G>TCA481867521TRPV4c.924C>A (p.Pro308=)
c.*11C>A (n.*11C>A)
n.955C>A
c.822C>A (p.Pro274=)
c.783C>A (p.Pro261=)
c.1077C>A (p.Pro359=)
c.936C>A (p.Pro312=)
12g.109798843G>ACA386654985TRPV4c.923C>T (p.Pro308Leu)
c.*10C>T (n.*10C>T)
n.954C>T
c.821C>T (p.Pro274Leu)
c.782C>T (p.Pro261Leu)
c.1076C>T (p.Pro359Leu)
c.935C>T (p.Pro312Leu)
ClinVar
12g.109798843G>CCA386654982TRPV4c.923C>G (p.Pro308Arg)
c.*10C>G (n.*10C>G)
n.954C>G
c.821C>G (p.Pro274Arg)
c.782C>G (p.Pro261Arg)
c.1076C>G (p.Pro359Arg)
c.935C>G (p.Pro312Arg)
12g.109798843G>TCA386654984TRPV4c.923C>A (p.Pro308His)
c.*10C>A (n.*10C>A)
n.954C>A
c.821C>A (p.Pro274His)
c.782C>A (p.Pro261His)
c.1076C>A (p.Pro359His)
c.935C>A (p.Pro312His)
gnomAD v4
12g.109798844G>ACA386654987TRPV4c.922C>T (p.Pro308Ser)
c.*9C>T (n.*9C>T)
n.953C>T
c.820C>T (p.Pro274Ser)
c.781C>T (p.Pro261Ser)
c.1075C>T (p.Pro359Ser)
c.934C>T (p.Pro312Ser)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.109798844G>CCA386654988TRPV4c.922C>G (p.Pro308Ala)
c.*9C>G (n.*9C>G)
n.953C>G
c.820C>G (p.Pro274Ala)
c.781C>G (p.Pro261Ala)
c.1075C>G (p.Pro359Ala)
c.934C>G (p.Pro312Ala)
12g.109798844G=CA2062573155TRPV4c.922C= (p.Pro308=)
c.*9C= (n.*9C=)
n.953C=
c.820C= (p.Pro274=)
c.781C= (p.Pro261=)
c.1075C= (p.Pro359=)
c.934C= (p.Pro312=)
12g.109798844G>TCA386654990TRPV4c.922C>A (p.Pro308Thr)
c.*9C>A (n.*9C>A)
n.953C>A
c.820C>A (p.Pro274Thr)
c.781C>A (p.Pro261Thr)
c.1075C>A (p.Pro359Thr)
c.934C>A (p.Pro312Thr)
12g.109798845G>ACA481867524TRPV4c.921C>T (p.Asn307=)
c.*8C>T (n.*8C>T)
n.952C>T
c.819C>T (p.Asn273=)
c.780C>T (p.Asn260=)
c.1074C>T (p.Asn358=)
c.933C>T (p.Asn311=)
ClinVar dbSNP gnomAD v2 gnomAD v4
12g.109798845G>CCA386654992TRPV4c.921C>G (p.Asn307Lys)
c.*8C>G (n.*8C>G)
n.952C>G
c.819C>G (p.Asn273Lys)
c.780C>G (p.Asn260Lys)
c.1074C>G (p.Asn358Lys)
c.933C>G (p.Asn311Lys)
12g.109798845G=CA2062573160TRPV4c.921C= (p.Asn307=)
c.*8C= (n.*8C=)
n.952C=
c.819C= (p.Asn273=)
c.780C= (p.Asn260=)
c.1074C= (p.Asn358=)
c.933C= (p.Asn311=)
12g.109798845G>TCA386654994TRPV4c.921C>A (p.Asn307Lys)
c.*8C>A (n.*8C>A)
n.952C>A
c.819C>A (p.Asn273Lys)
c.780C>A (p.Asn260Lys)
c.1074C>A (p.Asn358Lys)
c.933C>A (p.Asn311Lys)
12g.109798845_109798846insCCCACA2534602338TRPV4c.920_921insTGGG (p.Pro308GlyfsTer27)
c.*7_*8insTGGG (n.*7_*8insTGGG)
n.951_952insTGGG
c.818_819insTGGG (p.Pro274GlyfsTer27)
c.779_780insTGGG (p.Pro261GlyfsTer27)
c.1073_1074insTGGG (p.Pro359GlyfsTer27)
c.932_933insTGGG (p.Pro312GlyfsTer27)
12g.109798846T>ACA386654995TRPV4c.920A>T (p.Asn307Ile)
c.*7A>T (n.*7A>T)
n.951A>T
c.818A>T (p.Asn273Ile)
c.779A>T (p.Asn260Ile)
c.1073A>T (p.Asn358Ile)
c.932A>T (p.Asn311Ile)
12g.109798846T>CCA386654996TRPV4c.920A>G (p.Asn307Ser)
c.*7A>G (n.*7A>G)
n.951A>G
c.818A>G (p.Asn273Ser)
c.779A>G (p.Asn260Ser)
c.1073A>G (p.Asn358Ser)
c.932A>G (p.Asn311Ser)
dbSNP gnomAD v2 gnomAD v4
12g.109798846T>GCA386654998TRPV4c.920A>C (p.Asn307Thr)
c.*7A>C (n.*7A>C)
n.951A>C
c.818A>C (p.Asn273Thr)
c.779A>C (p.Asn260Thr)
c.1073A>C (p.Asn358Thr)
c.932A>C (p.Asn311Thr)
12g.109798846T=CA2062573162TRPV4c.920A= (p.Asn307=)
c.*7A= (n.*7A=)
n.951A=
c.818A= (p.Asn273=)
c.779A= (p.Asn260=)
c.1073A= (p.Asn358=)
c.932A= (p.Asn311=)
12g.109798847T>ACA386655000TRPV4c.919A>T (p.Asn307Tyr)
c.*6A>T (n.*6A>T)
n.950A>T
c.817A>T (p.Asn273Tyr)
c.778A>T (p.Asn260Tyr)
c.1072A>T (p.Asn358Tyr)
c.931A>T (p.Asn311Tyr)
12g.109798847T>CCA386655002TRPV4c.919A>G (p.Asn307Asp)
c.*6A>G (n.*6A>G)
n.950A>G
c.817A>G (p.Asn273Asp)
c.778A>G (p.Asn260Asp)
c.1072A>G (p.Asn358Asp)
c.931A>G (p.Asn311Asp)
dbSNP gnomAD v2
12g.109798847T>GCA386655003TRPV4c.919A>C (p.Asn307His)
c.*6A>C (n.*6A>C)
n.950A>C
c.817A>C (p.Asn273His)
c.778A>C (p.Asn260His)
c.1072A>C (p.Asn358His)
c.931A>C (p.Asn311His)
12g.109798847T=CA2062573164TRPV4c.919A= (p.Asn307=)
c.*6A= (n.*6A=)
n.950A=
c.817A= (p.Asn273=)
c.778A= (p.Asn260=)
c.1072A= (p.Asn358=)
c.931A= (p.Asn311=)
12g.109798848C>ACA386655005TRPV4c.918G>T (p.Glu306Asp)
c.*5G>T (n.*5G>T)
n.949G>T
c.816G>T (p.Glu272Asp)
c.777G>T (p.Glu259Asp)
c.1071G>T (p.Glu357Asp)
c.930G>T (p.Glu310Asp)
12g.109798848C>GCA386655006TRPV4c.918G>C (p.Glu306Asp)
c.*5G>C (n.*5G>C)
n.949G>C
c.816G>C (p.Glu272Asp)
c.777G>C (p.Glu259Asp)
c.1071G>C (p.Glu357Asp)
c.930G>C (p.Glu310Asp)
12g.109798848C>TCA481867525TRPV4c.918G>A (p.Glu306=)
c.*5G>A (n.*5G>A)
n.949G>A
c.816G>A (p.Glu272=)
c.777G>A (p.Glu259=)
c.1071G>A (p.Glu357=)
c.930G>A (p.Glu310=)
12g.109798849T>ACA386655009TRPV4c.917A>T (p.Glu306Val)
c.*4A>T (n.*4A>T)
n.948A>T
c.815A>T (p.Glu272Val)
c.776A>T (p.Glu259Val)
c.1070A>T (p.Glu357Val)
c.929A>T (p.Glu310Val)
12g.109798849T>CCA386655010TRPV4c.917A>G (p.Glu306Gly)
c.*4A>G (n.*4A>G)
n.948A>G
c.815A>G (p.Glu272Gly)
c.776A>G (p.Glu259Gly)
c.1070A>G (p.Glu357Gly)
c.929A>G (p.Glu310Gly)
12g.109798849T>GCA386655011TRPV4c.917A>C (p.Glu306Ala)
c.*4A>C (n.*4A>C)
n.948A>C
c.815A>C (p.Glu272Ala)
c.776A>C (p.Glu259Ala)
c.1070A>C (p.Glu357Ala)
c.929A>C (p.Glu310Ala)
12g.109798850C>ACA386655013TRPV4c.916G>T (p.Glu306Ter)
c.*3G>T (n.*3G>T)
n.947G>T
c.814G>T (p.Glu272Ter)
c.775G>T (p.Glu259Ter)
c.1069G>T (p.Glu357Ter)
c.928G>T (p.Glu310Ter)
12g.109798850C>GCA386655015TRPV4c.916G>C (p.Glu306Gln)
c.*3G>C (n.*3G>C)
n.947G>C
c.814G>C (p.Glu272Gln)
c.775G>C (p.Glu259Gln)
c.1069G>C (p.Glu357Gln)
c.928G>C (p.Glu310Gln)
gnomAD v4
12g.109798850C>TCA386655017TRPV4c.916G>A (p.Glu306Lys)
c.*3G>A (n.*3G>A)
n.947G>A
c.814G>A (p.Glu272Lys)
c.775G>A (p.Glu259Lys)
c.1069G>A (p.Glu357Lys)
c.928G>A (p.Glu310Lys)
12g.109798851C>ACA481867526TRPV4c.915G>T (p.Thr305=)
c.*2G>T (n.*2G>T)
n.946G>T
c.813G>T (p.Thr271=)
c.774G>T (p.Thr258=)
c.1068G>T (p.Thr356=)
c.927G>T (p.Thr309=)
12g.109798851C=CA2062573167TRPV4c.915G= (p.Thr305=)
c.*2G= (n.*2G=)
n.946G=
c.813G= (p.Thr271=)
c.774G= (p.Thr258=)
c.1068G= (p.Thr356=)
c.927G= (p.Thr309=)
12g.109798851C>GCA481867527TRPV4c.915G>C (p.Thr305=)
c.*2G>C (n.*2G>C)
n.946G>C
c.813G>C (p.Thr271=)
c.774G>C (p.Thr258=)
c.1068G>C (p.Thr356=)
c.927G>C (p.Thr309=)
ClinVar dbSNP
12g.109798851C>TCA481867528TRPV4c.915G>A (p.Thr305=)
c.*2G>A (n.*2G>A)
n.946G>A
c.813G>A (p.Thr271=)
c.774G>A (p.Thr258=)
c.1068G>A (p.Thr356=)
c.927G>A (p.Thr309=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.109798852G>ACA6780386TRPV4c.914C>T (p.Thr305Met)
c.*1C>T (n.*1C>T)
n.945C>T
c.812C>T (p.Thr271Met)
c.773C>T (p.Thr258Met)
c.1067C>T (p.Thr356Met)
c.926C>T (p.Thr309Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.109798852G>CCA386655020TRPV4c.914C>G (p.Thr305Arg)
c.*1C>G (n.*1C>G)
n.945C>G
c.812C>G (p.Thr271Arg)
c.773C>G (p.Thr258Arg)
c.1067C>G (p.Thr356Arg)
c.926C>G (p.Thr309Arg)
12g.109798852G=CA2062573170TRPV4c.914C= (p.Thr305=)
c.*1C= (n.*1C=)
n.945C=
c.812C= (p.Thr271=)
c.773C= (p.Thr258=)
c.1067C= (p.Thr356=)
c.926C= (p.Thr309=)
12g.109798852G>TCA386655021TRPV4c.914C>A (p.Thr305Lys)
c.*1C>A (n.*1C>A)
n.945C>A
c.812C>A (p.Thr271Lys)
c.773C>A (p.Thr258Lys)
c.1067C>A (p.Thr356Lys)
c.926C>A (p.Thr309Lys)
12g.109798853T>ACA386655023TRPV4c.913A>T (p.Thr305Ser)
c.942A>T (p.Ter314Cys)
n.944A>T
c.811A>T (p.Thr271Ser)
c.772A>T (p.Thr258Ser)
c.1066A>T (p.Thr356Ser)
c.925A>T (p.Thr309Ser)
12g.109798853T>CCA386655025TRPV4c.913A>G (p.Thr305Ala)
c.942A>G (p.Ter314Trp)
n.944A>G
c.811A>G (p.Thr271Ala)
c.772A>G (p.Thr258Ala)
c.1066A>G (p.Thr356Ala)
c.925A>G (p.Thr309Ala)
12g.109798853T>GCA386655026TRPV4c.913A>C (p.Thr305Pro)
c.942A>C (p.Ter314Cys)
n.944A>C
c.811A>C (p.Thr271Pro)
c.772A>C (p.Thr258Pro)
c.1066A>C (p.Thr356Pro)
c.925A>C (p.Thr309Pro)
gnomAD v4
12g.109798854C>ACA481867529TRPV4c.912G>T (p.Leu304=)
c.941G>T (p.Ter314Leu)
n.943G>T
c.810G>T (p.Leu270=)
c.771G>T (p.Leu257=)
c.1065G>T (p.Leu355=)
c.924G>T (p.Leu308=)
12g.109798854C=CA2062573173TRPV4c.912G= (p.Leu304=)
c.941G= (p.Ter314=)
n.943G=
c.810G= (p.Leu270=)
c.771G= (p.Leu257=)
c.1065G= (p.Leu355=)
c.924G= (p.Leu308=)
12g.109798854C>GCA481867530TRPV4c.912G>C (p.Leu304=)
c.941G>C (p.Ter314Ser)
n.943G>C
c.810G>C (p.Leu270=)
c.771G>C (p.Leu257=)
c.1065G>C (p.Leu355=)
c.924G>C (p.Leu308=)
12g.109798854C>TCA481867531TRPV4c.912G>A (p.Leu304=)
c.941G>A (p.Ter314=)
n.943G>A
c.810G>A (p.Leu270=)
c.771G>A (p.Leu257=)
c.1065G>A (p.Leu355=)
c.924G>A (p.Leu308=)
dbSNP gnomAD v3 gnomAD v4
12g.109798855A>CCA386655029TRPV4c.911T>G (p.Leu304Arg)
c.940T>G (p.Ter314Gly)
n.942T>G
c.809T>G (p.Leu270Arg)
c.770T>G (p.Leu257Arg)
c.1064T>G (p.Leu355Arg)
c.923T>G (p.Leu308Arg)
12g.109798855A>GCA386655027TRPV4c.911T>C (p.Leu304Pro)
c.940T>C (p.Ter314Arg)
n.942T>C
c.809T>C (p.Leu270Pro)
c.770T>C (p.Leu257Pro)
c.1064T>C (p.Leu355Pro)
c.923T>C (p.Leu308Pro)
12g.109798855A>TCA386655028TRPV4c.911T>A (p.Leu304Gln)
c.940T>A (p.Ter314Arg)
n.942T>A
c.809T>A (p.Leu270Gln)
c.770T>A (p.Leu257Gln)
c.1064T>A (p.Leu355Gln)
c.923T>A (p.Leu308Gln)
12g.109798856G>ACA481867532TRPV4c.910C>T (p.Leu304=)
c.939C>T (p.Thr313=)
n.941C>T
c.808C>T (p.Leu270=)
c.769C>T (p.Leu257=)
c.1063C>T (p.Leu355=)
c.922C>T (p.Leu308=)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109798856G>CCA386655031TRPV4c.910C>G (p.Leu304Val)
c.939C>G (p.Thr313=)
n.941C>G
c.808C>G (p.Leu270Val)
c.769C>G (p.Leu257Val)
c.1063C>G (p.Leu355Val)
c.922C>G (p.Leu308Val)
12g.109798856G=CA2062573175TRPV4c.910C= (p.Leu304=)
c.939C= (p.Thr313=)
n.941C=
c.808C= (p.Leu270=)
c.769C= (p.Leu257=)
c.1063C= (p.Leu355=)
c.922C= (p.Leu308=)
12g.109798856G>TCA386655033TRPV4c.910C>A (p.Leu304Met)
c.939C>A (p.Thr313=)
n.941C>A
c.808C>A (p.Leu270Met)
c.769C>A (p.Leu257Met)
c.1063C>A (p.Leu355Met)
c.922C>A (p.Leu308Met)
12g.109798857G>ACA481867533TRPV4c.909C>T (p.Tyr303=)
c.938C>T (p.Thr313Ile)
n.940C>T
c.807C>T (p.Tyr269=)
c.768C>T (p.Tyr256=)
c.1062C>T (p.Tyr354=)
c.921C>T (p.Tyr307=)
gnomAD v4
12g.109798857G>CCA386655034TRPV4c.909C>G (p.Tyr303Ter)
c.938C>G (p.Thr313Ser)
n.940C>G
c.807C>G (p.Tyr269Ter)
c.768C>G (p.Tyr256Ter)
c.1062C>G (p.Tyr354Ter)
c.921C>G (p.Tyr307Ter)
12g.109798857G>TCA386655036TRPV4c.909C>A (p.Tyr303Ter)
c.938C>A (p.Thr313Asn)
n.940C>A
c.807C>A (p.Tyr269Ter)
c.768C>A (p.Tyr256Ter)
c.1062C>A (p.Tyr354Ter)
c.921C>A (p.Tyr307Ter)
12g.109798858T>ACA386655038TRPV4c.908A>T (p.Tyr303Phe)
c.937A>T (p.Thr313Ser)
n.939A>T
c.806A>T (p.Tyr269Phe)
c.767A>T (p.Tyr256Phe)
c.1061A>T (p.Tyr354Phe)
c.920A>T (p.Tyr307Phe)
12g.109798858T>CCA386655039TRPV4c.908A>G (p.Tyr303Cys)
c.937A>G (p.Thr313Ala)
n.939A>G
c.806A>G (p.Tyr269Cys)
c.767A>G (p.Tyr256Cys)
c.1061A>G (p.Tyr354Cys)
c.920A>G (p.Tyr307Cys)
gnomAD v4
12g.109798858T>GCA386655041TRPV4c.908A>C (p.Tyr303Ser)
c.937A>C (p.Thr313Pro)
n.939A>C
c.806A>C (p.Tyr269Ser)
c.767A>C (p.Tyr256Ser)
c.1061A>C (p.Tyr354Ser)
c.920A>C (p.Tyr307Ser)
12g.109798859A>CCA386655046TRPV4c.907T>G (p.Tyr303Asp)
c.936T>G (p.Thr312=)
n.938T>G
c.805T>G (p.Tyr269Asp)
c.766T>G (p.Tyr256Asp)
c.1060T>G (p.Tyr354Asp)
c.919T>G (p.Tyr307Asp)
12g.109798859A>GCA386655047TRPV4c.907T>C (p.Tyr303His)
c.936T>C (p.Thr312=)
n.938T>C
c.805T>C (p.Tyr269His)
c.766T>C (p.Tyr256His)
c.1060T>C (p.Tyr354His)
c.919T>C (p.Tyr307His)
12g.109798859A>TCA386655049TRPV4c.907T>A (p.Tyr303Asn)
c.936T>A (p.Thr312=)
n.938T>A
c.805T>A (p.Tyr269Asn)
c.766T>A (p.Tyr256Asn)
c.1060T>A (p.Tyr354Asn)
c.919T>A (p.Tyr307Asn)
12g.109798860G>ACA481867534TRPV4c.906C>T (p.Asn302=)
c.935C>T (p.Thr312Ile)
n.937C>T
c.804C>T (p.Asn268=)
c.765C>T (p.Asn255=)
c.1059C>T (p.Asn353=)
c.918C>T (p.Asn306=)
12g.109798860G>CCA386655050TRPV4c.906C>G (p.Asn302Lys)
c.935C>G (p.Thr312Ser)
n.937C>G
c.804C>G (p.Asn268Lys)
c.765C>G (p.Asn255Lys)
c.1059C>G (p.Asn353Lys)
c.918C>G (p.Asn306Lys)
12g.109798860G>TCA386655052TRPV4c.906C>A (p.Asn302Lys)
c.935C>A (p.Thr312Asn)
n.937C>A
c.804C>A (p.Asn268Lys)
c.765C>A (p.Asn255Lys)
c.1059C>A (p.Asn353Lys)
c.918C>A (p.Asn306Lys)
12g.109798861T>ACA386655054TRPV4c.905A>T (p.Asn302Ile)
c.934A>T (p.Thr312Ser)
n.936A>T
c.803A>T (p.Asn268Ile)
c.764A>T (p.Asn255Ile)
c.1058A>T (p.Asn353Ile)
c.917A>T (p.Asn306Ile)
12g.109798861T>CCA386655056TRPV4c.905A>G (p.Asn302Ser)
c.934A>G (p.Thr312Ala)
n.936A>G
c.803A>G (p.Asn268Ser)
c.764A>G (p.Asn255Ser)
c.1058A>G (p.Asn353Ser)
c.917A>G (p.Asn306Ser)
gnomAD v4
12g.109798861T>GCA386655053TRPV4c.905A>C (p.Asn302Thr)
c.934A>C (p.Thr312Pro)
n.936A>C
c.803A>C (p.Asn268Thr)
c.764A>C (p.Asn255Thr)
c.1058A>C (p.Asn353Thr)
c.917A>C (p.Asn306Thr)
12g.109798862T>ACA6780387TRPV4c.904A>T (p.Asn302Tyr)
c.933A>T (p.Ser311=)
n.935A>T
c.802A>T (p.Asn268Tyr)
c.763A>T (p.Asn255Tyr)
c.1057A>T (p.Asn353Tyr)
c.916A>T (p.Asn306Tyr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109798862T>CCA386655057TRPV4c.904A>G (p.Asn302Asp)
c.933A>G (p.Ser311=)
n.935A>G
c.802A>G (p.Asn268Asp)
c.763A>G (p.Asn255Asp)
c.1057A>G (p.Asn353Asp)
c.916A>G (p.Asn306Asp)
12g.109798862T>GCA386655059TRPV4c.904A>C (p.Asn302His)
c.933A>C (p.Ser311=)
n.935A>C
c.802A>C (p.Asn268His)
c.763A>C (p.Asn255His)
c.1057A>C (p.Asn353His)
c.916A>C (p.Asn306His)
12g.109798862T=CA2062573179TRPV4c.904A= (p.Asn302=)
c.933A= (p.Ser311=)
n.935A=
c.802A= (p.Asn268=)
c.763A= (p.Asn255=)
c.1057A= (p.Asn353=)
c.916A= (p.Asn306=)
12g.109798863G>ACA481867535TRPV4c.903C>T (p.Val301=)
c.932C>T (p.Ser311Leu)
n.934C>T
c.801C>T (p.Val267=)
c.762C>T (p.Val254=)
c.1056C>T (p.Val352=)
c.915C>T (p.Val305=)
12g.109798863G>CCA6780388TRPV4c.903C>G (p.Val301=)
c.932C>G (p.Ser311Ter)
n.934C>G
c.801C>G (p.Val267=)
c.762C>G (p.Val254=)
c.1056C>G (p.Val352=)
c.915C>G (p.Val305=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109798863G=CA2062573184TRPV4c.903C= (p.Val301=)
c.932C= (p.Ser311=)
n.934C=
c.801C= (p.Val267=)
c.762C= (p.Val254=)
c.1056C= (p.Val352=)
c.915C= (p.Val305=)
12g.109798863G>TCA481867536TRPV4c.903C>A (p.Val301=)
c.932C>A (p.Ser311Ter)
n.934C>A
c.801C>A (p.Val267=)
c.762C>A (p.Val254=)
c.1056C>A (p.Val352=)
c.915C>A (p.Val305=)
gnomAD v4
12g.109798864A>CCA386655062TRPV4c.902T>G (p.Val301Gly)
c.931T>G (p.Ser311Ala)
n.933T>G
c.800T>G (p.Val267Gly)
c.761T>G (p.Val254Gly)
c.1055T>G (p.Val352Gly)
c.914T>G (p.Val305Gly)
12g.109798864A>GCA386655063TRPV4c.902T>C (p.Val301Ala)
c.931T>C (p.Ser311Pro)
n.933T>C
c.800T>C (p.Val267Ala)
c.761T>C (p.Val254Ala)
c.1055T>C (p.Val352Ala)
c.914T>C (p.Val305Ala)
12g.109798864A>TCA386655064TRPV4c.902T>A (p.Val301Asp)
c.931T>A (p.Ser311Thr)
n.933T>A
c.800T>A (p.Val267Asp)
c.761T>A (p.Val254Asp)
c.1055T>A (p.Val352Asp)
c.914T>A (p.Val305Asp)
12g.109798865C>ACA386655067TRPV4c.901G>T (p.Val301Phe)
c.930G>T (p.Leu310Phe)
n.932G>T
c.799G>T (p.Val267Phe)
c.760G>T (p.Val254Phe)
c.1054G>T (p.Val352Phe)
c.913G>T (p.Val305Phe)
12g.109798865C>GCA386655070TRPV4c.901G>C (p.Val301Leu)
c.930G>C (p.Leu310Phe)
n.932G>C
c.799G>C (p.Val267Leu)
c.760G>C (p.Val254Leu)
c.1054G>C (p.Val352Leu)
c.913G>C (p.Val305Leu)
12g.109798865C>TCA386655069TRPV4c.901G>A (p.Val301Ile)
c.930G>A (p.Leu310=)
n.932G>A
c.799G>A (p.Val267Ile)
c.760G>A (p.Val254Ile)
c.1054G>A (p.Val352Ile)
c.913G>A (p.Val305Ile)
gnomAD v4
12g.109798866A>CCA386655072TRPV4c.900T>G (p.Ile300Met)
c.929T>G (p.Leu310Trp)
n.931T>G
c.798T>G (p.Ile266Met)
c.759T>G (p.Ile253Met)
c.1053T>G (p.Ile351Met)
c.912T>G (p.Ile304Met)
12g.109798866A>GCA481867538TRPV4c.900T>C (p.Ile300=)
c.929T>C (p.Leu310Ser)
n.931T>C
c.798T>C (p.Ile266=)
c.759T>C (p.Ile253=)
c.1053T>C (p.Ile351=)
c.912T>C (p.Ile304=)
12g.109798866A>TCA481867537TRPV4c.900T>A (p.Ile300=)
c.929T>A (p.Leu310Ter)
n.931T>A
c.798T>A (p.Ile266=)
c.759T>A (p.Ile253=)
c.1053T>A (p.Ile351=)
c.912T>A (p.Ile304=)
12g.109798867A>CCA386655074TRPV4c.899T>G (p.Ile300Ser)
c.928T>G (p.Leu310Val)
n.930T>G
c.797T>G (p.Ile266Ser)
c.758T>G (p.Ile253Ser)
c.1052T>G (p.Ile351Ser)
c.911T>G (p.Ile304Ser)
12g.109798867A>GCA386655075TRPV4c.899T>C (p.Ile300Thr)
c.928T>C (p.Leu310=)
n.930T>C
c.797T>C (p.Ile266Thr)
c.758T>C (p.Ile253Thr)
c.1052T>C (p.Ile351Thr)
c.911T>C (p.Ile304Thr)
gnomAD v4
12g.109798867A>TCA386655077TRPV4c.899T>A (p.Ile300Asn)
c.928T>A (p.Leu310Met)
n.930T>A
c.797T>A (p.Ile266Asn)
c.758T>A (p.Ile253Asn)
c.1052T>A (p.Ile351Asn)
c.911T>A (p.Ile304Asn)
12g.109798868T>ACA386655079TRPV4c.898A>T (p.Ile300Phe)
c.927A>T (p.Thr309=)
n.929A>T
c.796A>T (p.Ile266Phe)
c.757A>T (p.Ile253Phe)
c.1051A>T (p.Ile351Phe)
c.910A>T (p.Ile304Phe)
12g.109798868T>CCA6780389TRPV4c.898A>G (p.Ile300Val)
c.927A>G (p.Thr309=)
n.929A>G
c.796A>G (p.Ile266Val)
c.757A>G (p.Ile253Val)
c.1051A>G (p.Ile351Val)
c.910A>G (p.Ile304Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.109798868T>GCA386655081TRPV4c.898A>C (p.Ile300Leu)
c.927A>C (p.Thr309=)
n.929A>C
c.796A>C (p.Ile266Leu)
c.757A>C (p.Ile253Leu)
c.1051A>C (p.Ile351Leu)
c.910A>C (p.Ile304Leu)
12g.109798868T=CA2062573187TRPV4c.898A= (p.Ile300=)
c.927A= (p.Thr309=)
n.929A=
c.796A= (p.Ile266=)
c.757A= (p.Ile253=)
c.1051A= (p.Ile351=)
c.910A= (p.Ile304=)
12g.109798869G>ACA481867539TRPV4c.897C>T (p.His299=)
c.926C>T (p.Thr309Ile)
n.928C>T
c.795C>T (p.His265=)
c.756C>T (p.His252=)
c.1050C>T (p.His350=)
c.909C>T (p.His303=)
ClinVar dbSNP gnomAD v4
12g.109798869G>CCA386655083TRPV4c.897C>G (p.His299Gln)
c.926C>G (p.Thr309Arg)
n.928C>G
c.795C>G (p.His265Gln)
c.756C>G (p.His252Gln)
c.1050C>G (p.His350Gln)
c.909C>G (p.His303Gln)
12g.109798869G=CA2062573189TRPV4c.897C= (p.His299=)
c.926C= (p.Thr309=)
n.928C=
c.795C= (p.His265=)
c.756C= (p.His252=)
c.1050C= (p.His350=)
c.909C= (p.His303=)
12g.109798869G>TCA386655085TRPV4c.897C>A (p.His299Gln)
c.926C>A (p.Thr309Lys)
n.928C>A
c.795C>A (p.His265Gln)
c.756C>A (p.His252Gln)
c.1050C>A (p.His350Gln)
c.909C>A (p.His303Gln)
12g.109798870T>ACA386655088TRPV4c.896A>T (p.His299Leu)
c.925A>T (p.Thr309Ser)
n.927A>T
c.794A>T (p.His265Leu)
c.755A>T (p.His252Leu)
c.1049A>T (p.His350Leu)
c.908A>T (p.His303Leu)
12g.109798870T>CCA386655089TRPV4c.896A>G (p.His299Arg)
c.925A>G (p.Thr309Ala)
n.927A>G
c.794A>G (p.His265Arg)
c.755A>G (p.His252Arg)
c.1049A>G (p.His350Arg)
c.908A>G (p.His303Arg)
12g.109798870T>GCA386655091TRPV4c.896A>C (p.His299Pro)
c.925A>C (p.Thr309Pro)
n.927A>C
c.794A>C (p.His265Pro)
c.755A>C (p.His252Pro)
c.1049A>C (p.His350Pro)
c.908A>C (p.His303Pro)
12g.109798871G>ACA386655093TRPV4c.895C>T (p.His299Tyr)
c.924C>T (p.Pro308=)
n.926C>T
c.793C>T (p.His265Tyr)
c.754C>T (p.His252Tyr)
c.1048C>T (p.His350Tyr)
c.907C>T (p.His303Tyr)
12g.109798871G>CCA386655095TRPV4c.895C>G (p.His299Asp)
c.924C>G (p.Pro308=)
n.926C>G
c.793C>G (p.His265Asp)
c.754C>G (p.His252Asp)
c.1048C>G (p.His350Asp)
c.907C>G (p.His303Asp)
gnomAD v4
12g.109798871G>TCA386655097TRPV4c.895C>A (p.His299Asn)
c.924C>A (p.Pro308=)
n.926C>A
c.793C>A (p.His265Asn)
c.754C>A (p.His252Asn)
c.1048C>A (p.His350Asn)
c.907C>A (p.His303Asn)
COSMIC
12g.109798874dupCA2580085802TRPV4c.895dup (p.His299ProfsTer?)
c.924dup (p.Thr309HisfsTer?)
n.926dup
c.793dup (p.His265ProfsTer?)
c.754dup (p.His252ProfsTer?)
c.1048dup (p.His350ProfsTer?)
c.907dup (p.His303ProfsTer?)
ClinVar
12g.109798872G>ACA6780390TRPV4c.894C>T (p.Pro298=)
c.923C>T (p.Pro308Leu)
n.925C>T
c.792C>T (p.Pro264=)
c.753C>T (p.Pro251=)
c.1047C>T (p.Pro349=)
c.906C>T (p.Pro302=)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.109798872G>CCA481867540TRPV4c.894C>G (p.Pro298=)
c.923C>G (p.Pro308Arg)
n.925C>G
c.792C>G (p.Pro264=)
c.753C>G (p.Pro251=)
c.1047C>G (p.Pro349=)
c.906C>G (p.Pro302=)
12g.109798872G=CA2062573192TRPV4c.894C= (p.Pro298=)
c.923C= (p.Pro308=)
n.925C=
c.792C= (p.Pro264=)
c.753C= (p.Pro251=)
c.1047C= (p.Pro349=)
c.906C= (p.Pro302=)
12g.109798872G>TCA481867541TRPV4c.894C>A (p.Pro298=)
c.923C>A (p.Pro308His)
n.925C>A
c.792C>A (p.Pro264=)
c.753C>A (p.Pro251=)
c.1047C>A (p.Pro349=)
c.906C>A (p.Pro302=)
12g.109798873G>ACA386655101TRPV4c.893C>T (p.Pro298Leu)
c.922C>T (p.Pro308Ser)
n.924C>T
c.791C>T (p.Pro264Leu)
c.752C>T (p.Pro251Leu)
c.1046C>T (p.Pro349Leu)
c.905C>T (p.Pro302Leu)
12g.109798873G>CCA386655102TRPV4c.893C>G (p.Pro298Arg)
c.922C>G (p.Pro308Ala)
n.924C>G
c.791C>G (p.Pro264Arg)
c.752C>G (p.Pro251Arg)
c.1046C>G (p.Pro349Arg)
c.905C>G (p.Pro302Arg)
12g.109798873G>TCA386655104TRPV4c.893C>A (p.Pro298His)
c.922C>A (p.Pro308Thr)
n.924C>A
c.791C>A (p.Pro264His)
c.752C>A (p.Pro251His)
c.1046C>A (p.Pro349His)
c.905C>A (p.Pro302His)
gnomAD v4
12g.109798874G>ACA386655107TRPV4c.892C>T (p.Pro298Ser)
c.921C>T (p.Ser307=)
n.923C>T
c.790C>T (p.Pro264Ser)
c.751C>T (p.Pro251Ser)
c.1045C>T (p.Pro349Ser)
c.904C>T (p.Pro302Ser)
12g.109798874G>CCA386655110TRPV4c.892C>G (p.Pro298Ala)
c.921C>G (p.Ser307Arg)
n.923C>G
c.790C>G (p.Pro264Ala)
c.751C>G (p.Pro251Ala)
c.1045C>G (p.Pro349Ala)
c.904C>G (p.Pro302Ala)
12g.109798874G>TCA386655108TRPV4c.892C>A (p.Pro298Thr)
c.921C>A (p.Ser307Arg)
n.923C>A
c.790C>A (p.Pro264Thr)
c.751C>A (p.Pro251Thr)
c.1045C>A (p.Pro349Thr)
c.904C>A (p.Pro302Thr)
gnomAD v4
12g.109798875C>ACA386655112TRPV4c.891G>T (p.Gln297His)
c.920G>T (p.Ser307Ile)
n.922G>T
c.789G>T (p.Gln263His)
c.750G>T (p.Gln250His)
c.1044G>T (p.Gln348His)
c.903G>T (p.Gln301His)
12g.109798875C>GCA386655114TRPV4c.891G>C (p.Gln297His)
c.920G>C (p.Ser307Thr)
n.922G>C
c.789G>C (p.Gln263His)
c.750G>C (p.Gln250His)
c.1044G>C (p.Gln348His)
c.903G>C (p.Gln301His)
12g.109798875C>TCA481867545TRPV4c.891G>A (p.Gln297=)
c.920G>A (p.Ser307Asn)
n.922G>A
c.789G>A (p.Gln263=)
c.750G>A (p.Gln250=)
c.1044G>A (p.Gln348=)
c.903G>A (p.Gln301=)
12g.109798876T>ACA386655116TRPV4c.890A>T (p.Gln297Leu)
c.919A>T (p.Ser307Cys)
n.921A>T
c.788A>T (p.Gln263Leu)
c.749A>T (p.Gln250Leu)
c.1043A>T (p.Gln348Leu)
c.902A>T (p.Gln301Leu)
12g.109798876T>CCA386655118TRPV4c.890A>G (p.Gln297Arg)
c.919A>G (p.Ser307Gly)
n.921A>G
c.788A>G (p.Gln263Arg)
c.749A>G (p.Gln250Arg)
c.1043A>G (p.Gln348Arg)
c.902A>G (p.Gln301Arg)
dbSNP
12g.109798876T>GCA386655120TRPV4c.890A>C (p.Gln297Pro)
c.919A>C (p.Ser307Arg)
n.921A>C
c.788A>C (p.Gln263Pro)
c.749A>C (p.Gln250Pro)
c.1043A>C (p.Gln348Pro)
c.902A>C (p.Gln301Pro)
12g.109798877G>ACA386655122TRPV4c.889C>T (p.Gln297Ter)
c.918C>T (p.Thr306=)
n.920C>T
c.787C>T (p.Gln263Ter)
c.748C>T (p.Gln250Ter)
c.1042C>T (p.Gln348Ter)
c.901C>T (p.Gln301Ter)
12g.109798877G>CCA386655124TRPV4c.889C>G (p.Gln297Glu)
c.918C>G (p.Thr306=)
n.920C>G
c.787C>G (p.Gln263Glu)
c.748C>G (p.Gln250Glu)
c.1042C>G (p.Gln348Glu)
c.901C>G (p.Gln301Glu)
12g.109798877G>TCA386655125TRPV4c.889C>A (p.Gln297Lys)
c.918C>A (p.Thr306=)
n.920C>A
c.787C>A (p.Gln263Lys)
c.748C>A (p.Gln250Lys)
c.1042C>A (p.Gln348Lys)
c.901C>A (p.Gln301Lys)
12g.109798878G>ACA481867549TRPV4c.888C>T (p.Asn296=)
c.917C>T (p.Thr306Ile)
n.919C>T
c.786C>T (p.Asn262=)
c.747C>T (p.Asn249=)
c.1041C>T (p.Asn347=)
c.900C>T (p.Asn300=)
12g.109798878G>CCA386655128TRPV4c.888C>G (p.Asn296Lys)
c.917C>G (p.Thr306Ser)
n.919C>G
c.786C>G (p.Asn262Lys)
c.747C>G (p.Asn249Lys)
c.1041C>G (p.Asn347Lys)
c.900C>G (p.Asn300Lys)
12g.109798878G>TCA386655129TRPV4c.888C>A (p.Asn296Lys)
c.917C>A (p.Thr306Asn)
n.919C>A
c.786C>A (p.Asn262Lys)
c.747C>A (p.Asn249Lys)
c.1041C>A (p.Asn347Lys)
c.900C>A (p.Asn300Lys)
12g.109798879T>ACA386655131TRPV4c.887A>T (p.Asn296Ile)
c.916A>T (p.Thr306Ser)
n.918A>T
c.785A>T (p.Asn262Ile)
c.746A>T (p.Asn249Ile)
c.1040A>T (p.Asn347Ile)
c.899A>T (p.Asn300Ile)
12g.109798879T>CCA6780391TRPV4c.887A>G (p.Asn296Ser)
c.916A>G (p.Thr306Ala)
n.918A>G
c.785A>G (p.Asn262Ser)
c.746A>G (p.Asn249Ser)
c.1040A>G (p.Asn347Ser)
c.899A>G (p.Asn300Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
12g.109798879T>GCA386655134TRPV4c.887A>C (p.Asn296Thr)
c.916A>C (p.Thr306Pro)
n.918A>C
c.785A>C (p.Asn262Thr)
c.746A>C (p.Asn249Thr)
c.1040A>C (p.Asn347Thr)
c.899A>C (p.Asn300Thr)
12g.109798879T=CA2062573195TRPV4c.887A= (p.Asn296=)
c.916A= (p.Thr306=)
n.918A=
c.785A= (p.Asn262=)
c.746A= (p.Asn249=)
c.1040A= (p.Asn347=)
c.899A= (p.Asn300=)
12g.109798880T>ACA386655139TRPV4c.886A>T (p.Asn296Tyr)
c.915A>T (p.Pro305=)
n.917A>T
c.784A>T (p.Asn262Tyr)
c.745A>T (p.Asn249Tyr)
c.1039A>T (p.Asn347Tyr)
c.898A>T (p.Asn300Tyr)
12g.109798880T>CCA386655136TRPV4c.886A>G (p.Asn296Asp)
c.915A>G (p.Pro305=)
n.917A>G
c.784A>G (p.Asn262Asp)
c.745A>G (p.Asn249Asp)
c.1039A>G (p.Asn347Asp)
c.898A>G (p.Asn300Asp)
12g.109798880T>GCA386655137TRPV4c.886A>C (p.Asn296His)
c.915A>C (p.Pro305=)
n.917A>C
c.784A>C (p.Asn262His)
c.745A>C (p.Asn249His)
c.1039A>C (p.Asn347His)
c.898A>C (p.Asn300His)
dbSNP
12g.109798880T=CA2062573197TRPV4c.886A= (p.Asn296=)
c.915A= (p.Pro305=)
n.917A=
c.784A= (p.Asn262=)
c.745A= (p.Asn249=)
c.1039A= (p.Asn347=)
c.898A= (p.Asn300=)
12g.109798881G>ACA481867555TRPV4c.885C>T (p.Thr295=)
c.914C>T (p.Pro305Leu)
n.916C>T
c.783C>T (p.Thr261=)
c.744C>T (p.Thr248=)
c.1038C>T (p.Thr346=)
c.897C>T (p.Thr299=)
dbSNP gnomAD v2 gnomAD v4
12g.109798881G>CCA481867554TRPV4c.885C>G (p.Thr295=)
c.914C>G (p.Pro305Arg)
n.916C>G
c.783C>G (p.Thr261=)
c.744C>G (p.Thr248=)
c.1038C>G (p.Thr346=)
c.897C>G (p.Thr299=)
12g.109798881G=CA2062573200TRPV4c.885C= (p.Thr295=)
c.914C= (p.Pro305=)
n.916C=
c.783C= (p.Thr261=)
c.744C= (p.Thr248=)
c.1038C= (p.Thr346=)
c.897C= (p.Thr299=)
12g.109798881G>TCA481867556TRPV4c.885C>A (p.Thr295=)
c.914C>A (p.Pro305Gln)
n.916C>A
c.783C>A (p.Thr261=)
c.744C>A (p.Thr248=)
c.1038C>A (p.Thr346=)
c.897C>A (p.Thr299=)
12g.109798882G>ACA386655141TRPV4c.884C>T (p.Thr295Ile)
c.913C>T (p.Pro305Ser)
n.915C>T
c.782C>T (p.Thr261Ile)
c.743C>T (p.Thr248Ile)
c.1037C>T (p.Thr346Ile)
c.896C>T (p.Thr299Ile)
dbSNP gnomAD v4
12g.109798882G>CCA386655142TRPV4c.884C>G (p.Thr295Ser)
c.913C>G (p.Pro305Ala)
n.915C>G
c.782C>G (p.Thr261Ser)
c.743C>G (p.Thr248Ser)
c.1037C>G (p.Thr346Ser)
c.896C>G (p.Thr299Ser)
12g.109798882G>TCA386655144TRPV4c.884C>A (p.Thr295Asn)
c.913C>A (p.Pro305Thr)
n.915C>A
c.782C>A (p.Thr261Asn)
c.743C>A (p.Thr248Asn)
c.1037C>A (p.Thr346Asn)
c.896C>A (p.Thr299Asn)
12g.109798883T>ACA386655146TRPV4c.883A>T (p.Thr295Ser)
c.912A>T (p.Ala304=)
n.914A>T
c.781A>T (p.Thr261Ser)
c.742A>T (p.Thr248Ser)
c.1036A>T (p.Thr346Ser)
c.895A>T (p.Thr299Ser)
12g.109798883T>CCA347723TRPV4c.883A>G (p.Thr295Ala)
c.912A>G (p.Ala304=)
n.914A>G
c.781A>G (p.Thr261Ala)
c.742A>G (p.Thr248Ala)
c.1036A>G (p.Thr346Ala)
c.895A>G (p.Thr299Ala)
ClinVar dbSNP
12g.109798883T>GCA386655148TRPV4c.883A>C (p.Thr295Pro)
c.912A>C (p.Ala304=)
n.914A>C
c.781A>C (p.Thr261Pro)
c.742A>C (p.Thr248Pro)
c.1036A>C (p.Thr346Pro)
c.895A>C (p.Thr299Pro)
12g.109798883T=CA2062573202TRPV4c.883A= (p.Thr295=)
c.912A= (p.Ala304=)
n.914A=
c.781A= (p.Thr261=)
c.742A= (p.Thr248=)
c.1036A= (p.Thr346=)
c.895A= (p.Thr299=)
12g.109798884G>ACA481867557TRPV4c.882C>T (p.Cys294=)
c.911C>T (p.Ala304Val)
n.913C>T
c.780C>T (p.Cys260=)
c.741C>T (p.Cys247=)
c.1035C>T (p.Cys345=)
c.894C>T (p.Cys298=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109798884G>CCA386655150TRPV4c.882C>G (p.Cys294Trp)
c.911C>G (p.Ala304Gly)
n.913C>G
c.780C>G (p.Cys260Trp)
c.741C>G (p.Cys247Trp)
c.1035C>G (p.Cys345Trp)
c.894C>G (p.Cys298Trp)
12g.109798884G=CA2062573205TRPV4c.882C= (p.Cys294=)
c.911C= (p.Ala304=)
n.913C=
c.780C= (p.Cys260=)
c.741C= (p.Cys247=)
c.1035C= (p.Cys345=)
c.894C= (p.Cys298=)
12g.109798884G>TCA386655152TRPV4c.882C>A (p.Cys294Ter)
c.911C>A (p.Ala304Glu)
n.913C>A
c.780C>A (p.Cys260Ter)
c.741C>A (p.Cys247Ter)
c.1035C>A (p.Cys345Ter)
c.894C>A (p.Cys298Ter)
12g.109798885C>ACA386655154TRPV4c.881G>T (p.Cys294Phe)
c.910G>T (p.Ala304Ser)
n.912G>T
c.779G>T (p.Cys260Phe)
c.740G>T (p.Cys247Phe)
c.1034G>T (p.Cys345Phe)
c.893G>T (p.Cys298Phe)
12g.109798885C>GCA386655156TRPV4c.881G>C (p.Cys294Ser)
c.910G>C (p.Ala304Pro)
n.912G>C
c.779G>C (p.Cys260Ser)
c.740G>C (p.Cys247Ser)
c.1034G>C (p.Cys345Ser)
c.893G>C (p.Cys298Ser)
12g.109798885C>TCA386655158TRPV4c.881G>A (p.Cys294Tyr)
c.910G>A (p.Ala304Thr)
n.912G>A
c.779G>A (p.Cys260Tyr)
c.740G>A (p.Cys247Tyr)
c.1034G>A (p.Cys345Tyr)
c.893G>A (p.Cys298Tyr)
12g.109798886A>CCA386655163TRPV4c.880T>G (p.Cys294Gly)
c.909T>G (p.Pro303=)
n.911T>G
c.778T>G (p.Cys260Gly)
c.739T>G (p.Cys247Gly)
c.1033T>G (p.Cys345Gly)
c.892T>G (p.Cys298Gly)
12g.109798886A>GCA386655161TRPV4c.880T>C (p.Cys294Arg)
c.909T>C (p.Pro303=)
n.911T>C
c.778T>C (p.Cys260Arg)
c.739T>C (p.Cys247Arg)
c.1033T>C (p.Cys345Arg)
c.892T>C (p.Cys298Arg)
12g.109798886A>TCA386655160TRPV4c.880T>A (p.Cys294Ser)
c.909T>A (p.Pro303=)
n.911T>A
c.778T>A (p.Cys260Ser)
c.739T>A (p.Cys247Ser)
c.1033T>A (p.Cys345Ser)
c.892T>A (p.Cys298Ser)
12g.109798887G>ACA481867564TRPV4c.879C>T (p.Ala293=)
c.908C>T (p.Pro303Leu)
n.910C>T
c.777C>T (p.Ala259=)
c.738C>T (p.Ala246=)
c.1032C>T (p.Ala344=)
c.891C>T (p.Ala297=)
dbSNP
12g.109798887G>CCA481867565TRPV4c.879C>G (p.Ala293=)
c.908C>G (p.Pro303Arg)
n.910C>G
c.777C>G (p.Ala259=)
c.738C>G (p.Ala246=)
c.1032C>G (p.Ala344=)
c.891C>G (p.Ala297=)
gnomAD v4
12g.109798887G=CA2062573207TRPV4c.879C= (p.Ala293=)
c.908C= (p.Pro303=)
n.910C=
c.777C= (p.Ala259=)
c.738C= (p.Ala246=)
c.1032C= (p.Ala344=)
c.891C= (p.Ala297=)
12g.109798887G>TCA481867566TRPV4c.879C>A (p.Ala293=)
c.908C>A (p.Pro303His)
n.910C>A
c.777C>A (p.Ala259=)
c.738C>A (p.Ala246=)
c.1032C>A (p.Ala344=)
c.891C>A (p.Ala297=)
gnomAD v4
12g.109798888G>ACA386655164TRPV4c.878C>T (p.Ala293Val)
c.907C>T (p.Pro303Ser)
n.909C>T
c.776C>T (p.Ala259Val)
c.737C>T (p.Ala246Val)
c.1031C>T (p.Ala344Val)
c.890C>T (p.Ala297Val)
12g.109798888G>CCA386655166TRPV4c.878C>G (p.Ala293Gly)
c.907C>G (p.Pro303Ala)
n.909C>G
c.776C>G (p.Ala259Gly)
c.737C>G (p.Ala246Gly)
c.1031C>G (p.Ala344Gly)
c.890C>G (p.Ala297Gly)
12g.109798888G>TCA386655165TRPV4c.878C>A (p.Ala293Asp)
c.907C>A (p.Pro303Thr)
n.909C>A
c.776C>A (p.Ala259Asp)
c.737C>A (p.Ala246Asp)
c.1031C>A (p.Ala344Asp)
c.890C>A (p.Ala297Asp)
COSMIC
12g.109798889C>ACA386655167TRPV4c.877G>T (p.Ala293Ser)
c.906G>T (p.Leu302=)
n.908G>T
c.775G>T (p.Ala259Ser)
c.736G>T (p.Ala246Ser)
c.1030G>T (p.Ala344Ser)
c.889G>T (p.Ala297Ser)
12g.109798889C=CA2062573209TRPV4c.877G= (p.Ala293=)
c.906G= (p.Leu302=)
n.908G=
c.775G= (p.Ala259=)
c.736G= (p.Ala246=)
c.1030G= (p.Ala344=)
c.889G= (p.Ala297=)
12g.109798889C>GCA386655168TRPV4c.877G>C (p.Ala293Pro)
c.906G>C (p.Leu302=)
n.908G>C
c.775G>C (p.Ala259Pro)
c.736G>C (p.Ala246Pro)
c.1030G>C (p.Ala344Pro)
c.889G>C (p.Ala297Pro)
12g.109798889C>TCA243467766TRPV4c.877G>A (p.Ala293Thr)
c.906G>A (p.Leu302=)
n.908G>A
c.775G>A (p.Ala259Thr)
c.736G>A (p.Ala246Thr)
c.1030G>A (p.Ala344Thr)
c.889G>A (p.Ala297Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.109798890A>CCA481867570TRPV4c.876T>G (p.Ala292=)
c.905T>G (p.Leu302Arg)
n.907T>G
c.774T>G (p.Ala258=)
c.735T>G (p.Ala245=)
c.1029T>G (p.Ala343=)
c.888T>G (p.Ala296=)
12g.109798890A>GCA481867571TRPV4c.876T>C (p.Ala292=)
c.905T>C (p.Leu302Pro)
n.907T>C
c.774T>C (p.Ala258=)
c.735T>C (p.Ala245=)
c.1029T>C (p.Ala343=)
c.888T>C (p.Ala296=)
COSMIC
12g.109798890A>TCA481867573TRPV4c.876T>A (p.Ala292=)
c.905T>A (p.Leu302Gln)
n.907T>A
c.774T>A (p.Ala258=)
c.735T>A (p.Ala245=)
c.1029T>A (p.Ala343=)
c.888T>A (p.Ala296=)
12g.109798891G>ACA386655169TRPV4c.875C>T (p.Ala292Val)
c.904C>T (p.Leu302=)
n.906C>T
c.773C>T (p.Ala258Val)
c.734C>T (p.Ala245Val)
c.1028C>T (p.Ala343Val)
c.887C>T (p.Ala296Val)
12g.109798891G>CCA386655170TRPV4c.875C>G (p.Ala292Gly)
c.904C>G (p.Leu302Val)
n.906C>G
c.773C>G (p.Ala258Gly)
c.734C>G (p.Ala245Gly)
c.1028C>G (p.Ala343Gly)
c.887C>G (p.Ala296Gly)
12g.109798891G>TCA386655171TRPV4c.875C>A (p.Ala292Asp)
c.904C>A (p.Leu302Met)
n.906C>A
c.773C>A (p.Ala258Asp)
c.734C>A (p.Ala245Asp)
c.1028C>A (p.Ala343Asp)
c.887C>A (p.Ala296Asp)
12g.109798892C>ACA386655174TRPV4c.874G>T (p.Ala292Ser)
c.903G>T (p.Trp301Cys)
n.905G>T
c.772G>T (p.Ala258Ser)
c.733G>T (p.Ala245Ser)
c.1027G>T (p.Ala343Ser)
c.886G>T (p.Ala296Ser)
12g.109798892C>GCA386655173TRPV4c.874G>C (p.Ala292Pro)
c.903G>C (p.Trp301Cys)
n.905G>C
c.772G>C (p.Ala258Pro)
c.733G>C (p.Ala245Pro)
c.1027G>C (p.Ala343Pro)
c.886G>C (p.Ala296Pro)
12g.109798892C>TCA386655172TRPV4c.874G>A (p.Ala292Thr)
c.903G>A (p.Trp301Ter)
n.905G>A
c.772G>A (p.Ala258Thr)
c.733G>A (p.Ala245Thr)
c.1027G>A (p.Ala343Thr)
c.886G>A (p.Ala296Thr)
dbSNP
12g.109798893C>ACA481867577TRPV4c.873G>T (p.Leu291=)
c.902G>T (p.Trp301Leu)
n.904G>T
c.771G>T (p.Leu257=)
c.732G>T (p.Leu244=)
c.1026G>T (p.Leu342=)
c.885G>T (p.Leu295=)
dbSNP
12g.109798893C=CA2062573213TRPV4c.873G= (p.Leu291=)
c.902G= (p.Trp301=)
n.904G=
c.771G= (p.Leu257=)
c.732G= (p.Leu244=)
c.1026G= (p.Leu342=)
c.885G= (p.Leu295=)
12g.109798893C>GCA481867578TRPV4c.873G>C (p.Leu291=)
c.902G>C (p.Trp301Ser)
n.904G>C
c.771G>C (p.Leu257=)
c.732G>C (p.Leu244=)
c.1026G>C (p.Leu342=)
c.885G>C (p.Leu295=)
dbSNP gnomAD v4
12g.109798893C>TCA481867579TRPV4c.873G>A (p.Leu291=)
c.902G>A (p.Trp301Ter)
n.904G>A
c.771G>A (p.Leu257=)
c.732G>A (p.Leu244=)
c.1026G>A (p.Leu342=)
c.885G>A (p.Leu295=)
12g.109798894A>CCA386655175TRPV4c.872T>G (p.Leu291Arg)
c.901T>G (p.Trp301Gly)
n.903T>G
c.770T>G (p.Leu257Arg)
c.731T>G (p.Leu244Arg)
c.1025T>G (p.Leu342Arg)
c.884T>G (p.Leu295Arg)
12g.109798894A>GCA386655176TRPV4c.872T>C (p.Leu291Pro)
c.901T>C (p.Trp301Arg)
n.903T>C
c.770T>C (p.Leu257Pro)
c.731T>C (p.Leu244Pro)
c.1025T>C (p.Leu342Pro)
c.884T>C (p.Leu295Pro)
ClinVar
12g.109798894A>TCA386655177TRPV4c.872T>A (p.Leu291Gln)
c.901T>A (p.Trp301Arg)
n.903T>A
c.770T>A (p.Leu257Gln)
c.731T>A (p.Leu244Gln)
c.1025T>A (p.Leu342Gln)
c.884T>A (p.Leu295Gln)
12g.109798895G>ACA16606368TRPV4c.871C>T (p.Leu291=)
c.900C>T (p.Arg300=)
n.902C>T
c.769C>T (p.Leu257=)
c.730C>T (p.Leu244=)
c.1024C>T (p.Leu342=)
c.883C>T (p.Leu295=)
ClinVar dbSNP
12g.109798895G>CCA386655178TRPV4c.871C>G (p.Leu291Val)
c.900C>G (p.Arg300=)
n.902C>G
c.769C>G (p.Leu257Val)
c.730C>G (p.Leu244Val)
c.1024C>G (p.Leu342Val)
c.883C>G (p.Leu295Val)
12g.109798895G=CA2062573215TRPV4c.871C= (p.Leu291=)
c.900C= (p.Arg300=)
n.902C=
c.769C= (p.Leu257=)
c.730C= (p.Leu244=)
c.1024C= (p.Leu342=)
c.883C= (p.Leu295=)
12g.109798895G>TCA386655179TRPV4c.871C>A (p.Leu291Met)
c.900C>A (p.Arg300=)
n.902C>A
c.769C>A (p.Leu257Met)
c.730C>A (p.Leu244Met)
c.1024C>A (p.Leu342Met)
c.883C>A (p.Leu295Met)
gnomAD v4
12g.109798896C>ACA481867245TRPV4c.870G>T (p.Ser290=)
c.899G>T (p.Arg300Leu)
n.901G>T
c.768G>T (p.Ser256=)
c.729G>T (p.Ser243=)
c.1023G>T (p.Ser341=)
c.882G>T (p.Ser294=)
COSMIC
12g.109798896C=CA2062573219TRPV4c.870G= (p.Ser290=)
c.899G= (p.Arg300=)
n.901G=
c.768G= (p.Ser256=)
c.729G= (p.Ser243=)
c.1023G= (p.Ser341=)
c.882G= (p.Ser294=)
12g.109798896C>GCA481867243TRPV4c.870G>C (p.Ser290=)
c.899G>C (p.Arg300Pro)
n.901G>C
c.768G>C (p.Ser256=)
c.729G>C (p.Ser243=)
c.1023G>C (p.Ser341=)
c.882G>C (p.Ser294=)
12g.109798896C>TCA6780392TRPV4c.870G>A (p.Ser290=)
c.899G>A (p.Arg300His)
n.901G>A
c.768G>A (p.Ser256=)
c.729G>A (p.Ser243=)
c.1023G>A (p.Ser341=)
c.882G>A (p.Ser294=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.109798897G>ACA6780393TRPV4c.869C>T (p.Ser290Leu)
c.898C>T (p.Arg300Cys)
n.900C>T
c.767C>T (p.Ser256Leu)
c.728C>T (p.Ser243Leu)
c.1022C>T (p.Ser341Leu)
c.881C>T (p.Ser294Leu)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.109798897G>CCA386655181TRPV4c.869C>G (p.Ser290Trp)
c.898C>G (p.Arg300Gly)
n.900C>G
c.767C>G (p.Ser256Trp)
c.728C>G (p.Ser243Trp)
c.1022C>G (p.Ser341Trp)
c.881C>G (p.Ser294Trp)
12g.109798897G=CA2062573221TRPV4c.869C= (p.Ser290=)
c.898C= (p.Arg300=)
n.900C=
c.767C= (p.Ser256=)
c.728C= (p.Ser243=)
c.1022C= (p.Ser341=)
c.881C= (p.Ser294=)
12g.109798897G>TCA386655180TRPV4c.869C>A (p.Ser290Ter)
c.898C>A (p.Arg300Ser)
n.900C>A
c.767C>A (p.Ser256Ter)
c.728C>A (p.Ser243Ter)
c.1022C>A (p.Ser341Ter)
c.881C>A (p.Ser294Ter)
gnomAD v4
12g.109798898A>CCA386655182TRPV4c.868T>G (p.Ser290Ala)
c.897T>G (p.Cys299Trp)
n.899T>G
c.766T>G (p.Ser256Ala)
c.727T>G (p.Ser243Ala)
c.1021T>G (p.Ser341Ala)
c.880T>G (p.Ser294Ala)
12g.109798898A>GCA386655183TRPV4c.868T>C (p.Ser290Pro)
c.897T>C (p.Cys299=)
n.899T>C
c.766T>C (p.Ser256Pro)
c.727T>C (p.Ser243Pro)
c.1021T>C (p.Ser341Pro)
c.880T>C (p.Ser294Pro)
12g.109798898A>TCA386655184TRPV4c.868T>A (p.Ser290Thr)
c.897T>A (p.Cys299Ter)
n.899T>A
c.766T>A (p.Ser256Thr)
c.727T>A (p.Ser243Thr)
c.1021T>A (p.Ser341Thr)
c.880T>A (p.Ser294Thr)

Number of alleles fetched