Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.109798775T>A | CA117174 | TRPV4 | c.991A>T (p.Ile331Phe) c.*78A>T (n.*78A>T) n.1022A>T c.889A>T (p.Ile297Phe) c.850A>T (p.Ile284Phe) c.1144A>T (p.Ile382Phe) c.1003A>T (p.Ile335Phe) | ClinVar dbSNP |
12 | g.109798775T>C | CA6780373 | TRPV4 | c.991A>G (p.Ile331Val) c.*78A>G (n.*78A>G) n.1022A>G c.889A>G (p.Ile297Val) c.850A>G (p.Ile284Val) c.1144A>G (p.Ile382Val) c.1003A>G (p.Ile335Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109798775T>G | CA386654648 | TRPV4 | c.991A>C (p.Ile331Leu) c.*78A>C (n.*78A>C) n.1022A>C c.889A>C (p.Ile297Leu) c.850A>C (p.Ile284Leu) c.1144A>C (p.Ile382Leu) c.1003A>C (p.Ile335Leu) | |
12 | g.109798775T= | CA2062573036 | TRPV4 | c.991A= (p.Ile331=) c.*78A= (n.*78A=) n.1022A= c.889A= (p.Ile297=) c.850A= (p.Ile284=) c.1144A= (p.Ile382=) c.1003A= (p.Ile335=) | |
12 | g.109798776G>A | CA481867438 | TRPV4 | c.990C>T (p.Ala330=) c.*77C>T (n.*77C>T) n.1021C>T c.888C>T (p.Ala296=) c.849C>T (p.Ala283=) c.1143C>T (p.Ala381=) c.1002C>T (p.Ala334=) | gnomAD v4 |
12 | g.109798776G>C | CA481867440 | TRPV4 | c.990C>G (p.Ala330=) c.*77C>G (n.*77C>G) n.1021C>G c.888C>G (p.Ala296=) c.849C>G (p.Ala283=) c.1143C>G (p.Ala381=) c.1002C>G (p.Ala334=) | |
12 | g.109798776G>T | CA481867439 | TRPV4 | c.990C>A (p.Ala330=) c.*77C>A (n.*77C>A) n.1021C>A c.888C>A (p.Ala296=) c.849C>A (p.Ala283=) c.1143C>A (p.Ala381=) c.1002C>A (p.Ala334=) | |
12 | g.109798777G>A | CA386654650 | TRPV4 | c.989C>T (p.Ala330Val) c.*76C>T (n.*76C>T) n.1020C>T c.887C>T (p.Ala296Val) c.848C>T (p.Ala283Val) c.1142C>T (p.Ala381Val) c.1001C>T (p.Ala334Val) | |
12 | g.109798777G>C | CA386654653 | TRPV4 | c.989C>G (p.Ala330Gly) c.*76C>G (n.*76C>G) n.1020C>G c.887C>G (p.Ala296Gly) c.848C>G (p.Ala283Gly) c.1142C>G (p.Ala381Gly) c.1001C>G (p.Ala334Gly) | |
12 | g.109798777G>T | CA386654655 | TRPV4 | c.989C>A (p.Ala330Asp) c.*76C>A (n.*76C>A) n.1020C>A c.887C>A (p.Ala296Asp) c.848C>A (p.Ala283Asp) c.1142C>A (p.Ala381Asp) c.1001C>A (p.Ala334Asp) | |
12 | g.109798778C>A | CA386654660 | TRPV4 | c.988G>T (p.Ala330Ser) c.*75G>T (n.*75G>T) n.1019G>T c.886G>T (p.Ala296Ser) c.847G>T (p.Ala283Ser) c.1141G>T (p.Ala381Ser) c.1000G>T (p.Ala334Ser) | |
12 | g.109798778C>G | CA386654662 | TRPV4 | c.988G>C (p.Ala330Pro) c.*75G>C (n.*75G>C) n.1019G>C c.886G>C (p.Ala296Pro) c.847G>C (p.Ala283Pro) c.1141G>C (p.Ala381Pro) c.1000G>C (p.Ala334Pro) | |
12 | g.109798778C>T | CA386654658 | TRPV4 | c.988G>A (p.Ala330Thr) c.*75G>A (n.*75G>A) n.1019G>A c.886G>A (p.Ala296Thr) c.847G>A (p.Ala283Thr) c.1141G>A (p.Ala381Thr) c.1000G>A (p.Ala334Thr) | |
12 | g.109798779C>A | CA481867443 | TRPV4 | c.987G>T (p.Val329=) c.*74G>T (n.*74G>T) n.1018G>T c.885G>T (p.Val295=) c.846G>T (p.Val282=) c.1140G>T (p.Val380=) c.999G>T (p.Val333=) | |
12 | g.109798779C>G | CA481867444 | TRPV4 | c.987G>C (p.Val329=) c.*74G>C (n.*74G>C) n.1018G>C c.885G>C (p.Val295=) c.846G>C (p.Val282=) c.1140G>C (p.Val380=) c.999G>C (p.Val333=) | |
12 | g.109798779C>T | CA481867446 | TRPV4 | c.987G>A (p.Val329=) c.*74G>A (n.*74G>A) n.1018G>A c.885G>A (p.Val295=) c.846G>A (p.Val282=) c.1140G>A (p.Val380=) c.999G>A (p.Val333=) | gnomAD v4 |
12 | g.109798780A= | CA2062573039 | TRPV4 | c.986T= (p.Val329=) c.*73T= (n.*73T=) n.1017T= c.884T= (p.Val295=) c.845T= (p.Val282=) c.1139T= (p.Val380=) c.998T= (p.Val333=) | |
12 | g.109798780A>C | CA386654665 | TRPV4 | c.986T>G (p.Val329Gly) c.*73T>G (n.*73T>G) n.1017T>G c.884T>G (p.Val295Gly) c.845T>G (p.Val282Gly) c.1139T>G (p.Val380Gly) c.998T>G (p.Val333Gly) | |
12 | g.109798780A>G | CA386654669 | TRPV4 | c.986T>C (p.Val329Ala) c.*73T>C (n.*73T>C) n.1017T>C c.884T>C (p.Val295Ala) c.845T>C (p.Val282Ala) c.1139T>C (p.Val380Ala) c.998T>C (p.Val333Ala) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.109798780A>T | CA386654667 | TRPV4 | c.986T>A (p.Val329Glu) c.*73T>A (n.*73T>A) n.1017T>A c.884T>A (p.Val295Glu) c.845T>A (p.Val282Glu) c.1139T>A (p.Val380Glu) c.998T>A (p.Val333Glu) | |
12 | g.109798781C>A | CA386654670 | TRPV4 | c.985G>T (p.Val329Leu) c.*72G>T (n.*72G>T) n.1016G>T c.883G>T (p.Val295Leu) c.844G>T (p.Val282Leu) c.1138G>T (p.Val380Leu) c.997G>T (p.Val333Leu) | gnomAD v4 |
12 | g.109798781C>G | CA386654672 | TRPV4 | c.985G>C (p.Val329Leu) c.*72G>C (n.*72G>C) n.1016G>C c.883G>C (p.Val295Leu) c.844G>C (p.Val282Leu) c.1138G>C (p.Val380Leu) c.997G>C (p.Val333Leu) | |
12 | g.109798781C>T | CA386654673 | TRPV4 | c.985G>A (p.Val329Met) c.*72G>A (n.*72G>A) n.1016G>A c.883G>A (p.Val295Met) c.844G>A (p.Val282Met) c.1138G>A (p.Val380Met) c.997G>A (p.Val333Met) | ClinVar dbSNP |
12 | g.109798782C>A | CA481867448 | TRPV4 | c.984G>T (p.Leu328=) c.*71G>T (n.*71G>T) n.1015G>T c.882G>T (p.Leu294=) c.843G>T (p.Leu281=) c.1137G>T (p.Leu379=) c.996G>T (p.Leu332=) | |
12 | g.109798782C>G | CA481867449 | TRPV4 | c.984G>C (p.Leu328=) c.*71G>C (n.*71G>C) n.1015G>C c.882G>C (p.Leu294=) c.843G>C (p.Leu281=) c.1137G>C (p.Leu379=) c.996G>C (p.Leu332=) | |
12 | g.109798782C>T | CA481867450 | TRPV4 | c.984G>A (p.Leu328=) c.*71G>A (n.*71G>A) n.1015G>A c.882G>A (p.Leu294=) c.843G>A (p.Leu281=) c.1137G>A (p.Leu379=) c.996G>A (p.Leu332=) | |
12 | g.109798783A= | CA2062573042 | TRPV4 | c.983T= (p.Leu328=) c.*70T= (n.*70T=) n.1014T= c.881T= (p.Leu294=) c.842T= (p.Leu281=) c.1136T= (p.Leu379=) c.995T= (p.Leu332=) | |
12 | g.109798783A>C | CA386654676 | TRPV4 | c.983T>G (p.Leu328Arg) c.*70T>G (n.*70T>G) n.1014T>G c.881T>G (p.Leu294Arg) c.842T>G (p.Leu281Arg) c.1136T>G (p.Leu379Arg) c.995T>G (p.Leu332Arg) | |
12 | g.109798783A>G | CA386654678 | TRPV4 | c.983T>C (p.Leu328Pro) c.*70T>C (n.*70T>C) n.1014T>C c.881T>C (p.Leu294Pro) c.842T>C (p.Leu281Pro) c.1136T>C (p.Leu379Pro) c.995T>C (p.Leu332Pro) | dbSNP gnomAD v4 |
12 | g.109798783A>T | CA386654679 | TRPV4 | c.983T>A (p.Leu328Gln) c.*70T>A (n.*70T>A) n.1014T>A c.881T>A (p.Leu294Gln) c.842T>A (p.Leu281Gln) c.1136T>A (p.Leu379Gln) c.995T>A (p.Leu332Gln) | |
12 | g.109798784G>A | CA481867454 | TRPV4 | c.982C>T (p.Leu328=) c.*69C>T (n.*69C>T) n.1013C>T c.880C>T (p.Leu294=) c.841C>T (p.Leu281=) c.1135C>T (p.Leu379=) c.994C>T (p.Leu332=) | gnomAD v4 |
12 | g.109798784G>C | CA386654681 | TRPV4 | c.982C>G (p.Leu328Val) c.*69C>G (n.*69C>G) n.1013C>G c.880C>G (p.Leu294Val) c.841C>G (p.Leu281Val) c.1135C>G (p.Leu379Val) c.994C>G (p.Leu332Val) | |
12 | g.109798784G>T | CA386654684 | TRPV4 | c.982C>A (p.Leu328Met) c.*69C>A (n.*69C>A) n.1013C>A c.880C>A (p.Leu294Met) c.841C>A (p.Leu281Met) c.1135C>A (p.Leu379Met) c.994C>A (p.Leu332Met) | |
12 | g.109798785C>A | CA481867457 | TRPV4 | c.981G>T (p.Ala327=) c.*68G>T (n.*68G>T) n.1012G>T c.879G>T (p.Ala293=) c.840G>T (p.Ala280=) c.1134G>T (p.Ala378=) c.993G>T (p.Ala331=) | dbSNP gnomAD v4 |
12 | g.109798785C= | CA2062573045 | TRPV4 | c.981G= (p.Ala327=) c.*68G= (n.*68G=) n.1012G= c.879G= (p.Ala293=) c.840G= (p.Ala280=) c.1134G= (p.Ala378=) c.993G= (p.Ala331=) | |
12 | g.109798785C>G | CA481867456 | TRPV4 | c.981G>C (p.Ala327=) c.*68G>C (n.*68G>C) n.1012G>C c.879G>C (p.Ala293=) c.840G>C (p.Ala280=) c.1134G>C (p.Ala378=) c.993G>C (p.Ala331=) | |
12 | g.109798785C>T | CA243467684 | TRPV4 | c.981G>A (p.Ala327=) c.*68G>A (n.*68G>A) n.1012G>A c.879G>A (p.Ala293=) c.840G>A (p.Ala280=) c.1134G>A (p.Ala378=) c.993G>A (p.Ala331=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
12 | g.109798786G>A | CA386654689 | TRPV4 | c.980C>T (p.Ala327Val) c.*67C>T (n.*67C>T) n.1011C>T c.878C>T (p.Ala293Val) c.839C>T (p.Ala280Val) c.1133C>T (p.Ala378Val) c.992C>T (p.Ala331Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
12 | g.109798786G>C | CA386654691 | TRPV4 | c.980C>G (p.Ala327Gly) c.*67C>G (n.*67C>G) n.1011C>G c.878C>G (p.Ala293Gly) c.839C>G (p.Ala280Gly) c.1133C>G (p.Ala378Gly) c.992C>G (p.Ala331Gly) | ClinVar dbSNP |
12 | g.109798786G= | CA2062573050 | TRPV4 | c.980C= (p.Ala327=) c.*67C= (n.*67C=) n.1011C= c.878C= (p.Ala293=) c.839C= (p.Ala280=) c.1133C= (p.Ala378=) c.992C= (p.Ala331=) | |
12 | g.109798786G>T | CA386654693 | TRPV4 | c.980C>A (p.Ala327Glu) c.*67C>A (n.*67C>A) n.1011C>A c.878C>A (p.Ala293Glu) c.839C>A (p.Ala280Glu) c.1133C>A (p.Ala378Glu) c.992C>A (p.Ala331Glu) | |
12 | g.109798787C>A | CA386654701 | TRPV4 | c.979G>T (p.Ala327Ser) c.*66G>T (n.*66G>T) n.1010G>T c.877G>T (p.Ala293Ser) c.838G>T (p.Ala280Ser) c.1132G>T (p.Ala378Ser) c.991G>T (p.Ala331Ser) | |
12 | g.109798787C>G | CA386654699 | TRPV4 | c.979G>C (p.Ala327Pro) c.*66G>C (n.*66G>C) n.1010G>C c.877G>C (p.Ala293Pro) c.838G>C (p.Ala280Pro) c.1132G>C (p.Ala378Pro) c.991G>C (p.Ala331Pro) | |
12 | g.109798787C>T | CA386654696 | TRPV4 | c.979G>A (p.Ala327Thr) c.*66G>A (n.*66G>A) n.1010G>A c.877G>A (p.Ala293Thr) c.838G>A (p.Ala280Thr) c.1132G>A (p.Ala378Thr) c.991G>A (p.Ala331Thr) | |
12 | g.109798788A= | CA2062573054 | TRPV4 | c.978T= (p.His326=) c.*65T= (n.*65T=) n.1009T= c.876T= (p.His292=) c.837T= (p.His279=) c.1131T= (p.His377=) c.990T= (p.His330=) | |
12 | g.109798788A>C | CA386654704 | TRPV4 | c.978T>G (p.His326Gln) c.*65T>G (n.*65T>G) n.1009T>G c.876T>G (p.His292Gln) c.837T>G (p.His279Gln) c.1131T>G (p.His377Gln) c.990T>G (p.His330Gln) | |
12 | g.109798788A>G | CA481867461 | TRPV4 | c.978T>C (p.His326=) c.*65T>C (n.*65T>C) n.1009T>C c.876T>C (p.His292=) c.837T>C (p.His279=) c.1131T>C (p.His377=) c.990T>C (p.His330=) | dbSNP |
12 | g.109798788A>T | CA386654706 | TRPV4 | c.978T>A (p.His326Gln) c.*65T>A (n.*65T>A) n.1009T>A c.876T>A (p.His292Gln) c.837T>A (p.His279Gln) c.1131T>A (p.His377Gln) c.990T>A (p.His330Gln) | ClinVar dbSNP |
12 | g.109798789T>A | CA386654708 | TRPV4 | c.977A>T (p.His326Leu) c.*64A>T (n.*64A>T) n.1008A>T c.875A>T (p.His292Leu) c.836A>T (p.His279Leu) c.1130A>T (p.His377Leu) c.989A>T (p.His330Leu) | |
12 | g.109798789T>C | CA386654710 | TRPV4 | c.977A>G (p.His326Arg) c.*64A>G (n.*64A>G) n.1008A>G c.875A>G (p.His292Arg) c.836A>G (p.His279Arg) c.1130A>G (p.His377Arg) c.989A>G (p.His330Arg) | |
12 | g.109798789T>G | CA386654712 | TRPV4 | c.977A>C (p.His326Pro) c.*64A>C (n.*64A>C) n.1008A>C c.875A>C (p.His292Pro) c.836A>C (p.His279Pro) c.1130A>C (p.His377Pro) c.989A>C (p.His330Pro) | |
12 | g.109798790G>A | CA386654715 | TRPV4 | c.976C>T (p.His326Tyr) c.*63C>T (n.*63C>T) n.1007C>T c.874C>T (p.His292Tyr) c.835C>T (p.His279Tyr) c.1129C>T (p.His377Tyr) c.988C>T (p.His330Tyr) | |
12 | g.109798790G>C | CA386654718 | TRPV4 | c.976C>G (p.His326Asp) c.*63C>G (n.*63C>G) n.1007C>G c.874C>G (p.His292Asp) c.835C>G (p.His279Asp) c.1129C>G (p.His377Asp) c.988C>G (p.His330Asp) | |
12 | g.109798790G= | CA2062573057 | TRPV4 | c.976C= (p.His326=) c.*63C= (n.*63C=) n.1007C= c.874C= (p.His292=) c.835C= (p.His279=) c.1129C= (p.His377=) c.988C= (p.His330=) | |
12 | g.109798790G>T | CA6780374 | TRPV4 | c.976C>A (p.His326Asn) c.*63C>A (n.*63C>A) n.1007C>A c.874C>A (p.His292Asn) c.835C>A (p.His279Asn) c.1129C>A (p.His377Asn) c.988C>A (p.His330Asn) | dbSNP ExAC gnomAD v2 |
12 | g.109798791C>A | CA481867464 | TRPV4 | c.975G>T (p.Leu325=) c.*62G>T (n.*62G>T) n.1006G>T c.873G>T (p.Leu291=) c.834G>T (p.Leu278=) c.1128G>T (p.Leu376=) c.987G>T (p.Leu329=) | |
12 | g.109798791C= | CA2062573059 | TRPV4 | c.975G= (p.Leu325=) c.*62G= (n.*62G=) n.1006G= c.873G= (p.Leu291=) c.834G= (p.Leu278=) c.1128G= (p.Leu376=) c.987G= (p.Leu329=) | |
12 | g.109798791C>G | CA481867465 | TRPV4 | c.975G>C (p.Leu325=) c.*62G>C (n.*62G>C) n.1006G>C c.873G>C (p.Leu291=) c.834G>C (p.Leu278=) c.1128G>C (p.Leu376=) c.987G>C (p.Leu329=) | |
12 | g.109798791C>T | CA481867466 | TRPV4 | c.975G>A (p.Leu325=) c.*62G>A (n.*62G>A) n.1006G>A c.873G>A (p.Leu291=) c.834G>A (p.Leu278=) c.1128G>A (p.Leu376=) c.987G>A (p.Leu329=) | dbSNP |
12 | g.109798792A= | CA2062573063 | TRPV4 | c.974T= (p.Leu325=) c.*61T= (n.*61T=) n.1005T= c.872T= (p.Leu291=) c.833T= (p.Leu278=) c.1127T= (p.Leu376=) c.986T= (p.Leu329=) | |
12 | g.109798792A>C | CA386654722 | TRPV4 | c.974T>G (p.Leu325Arg) c.*61T>G (n.*61T>G) n.1005T>G c.872T>G (p.Leu291Arg) c.833T>G (p.Leu278Arg) c.1127T>G (p.Leu376Arg) c.986T>G (p.Leu329Arg) | |
12 | g.109798792A>G | CA386654725 | TRPV4 | c.974T>C (p.Leu325Pro) c.*61T>C (n.*61T>C) n.1005T>C c.872T>C (p.Leu291Pro) c.833T>C (p.Leu278Pro) c.1127T>C (p.Leu376Pro) c.986T>C (p.Leu329Pro) | dbSNP gnomAD v2 gnomAD v4 |
12 | g.109798792A>T | CA386654726 | TRPV4 | c.974T>A (p.Leu325Gln) c.*61T>A (n.*61T>A) n.1005T>A c.872T>A (p.Leu291Gln) c.833T>A (p.Leu278Gln) c.1127T>A (p.Leu376Gln) c.986T>A (p.Leu329Gln) | dbSNP |
12 | g.109798793G>A | CA481867467 | TRPV4 | c.973C>T (p.Leu325=) c.*60C>T (n.*60C>T) n.1004C>T c.871C>T (p.Leu291=) c.832C>T (p.Leu278=) c.1126C>T (p.Leu376=) c.985C>T (p.Leu329=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
12 | g.109798793G>C | CA6780375 | TRPV4 | c.973C>G (p.Leu325Val) c.*60C>G (n.*60C>G) n.1004C>G c.871C>G (p.Leu291Val) c.832C>G (p.Leu278Val) c.1126C>G (p.Leu376Val) c.985C>G (p.Leu329Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.109798793G= | CA2062573065 | TRPV4 | c.973C= (p.Leu325=) c.*60C= (n.*60C=) n.1004C= c.871C= (p.Leu291=) c.832C= (p.Leu278=) c.1126C= (p.Leu376=) c.985C= (p.Leu329=) | |
12 | g.109798793G>T | CA386654731 | TRPV4 | c.973C>A (p.Leu325Met) c.*60C>A (n.*60C>A) n.1004C>A c.871C>A (p.Leu291Met) c.832C>A (p.Leu278Met) c.1126C>A (p.Leu376Met) c.985C>A (p.Leu329Met) | |
12 | g.109798794C>A | CA481867469 | TRPV4 | c.972G>T (p.Val324=) c.*59G>T (n.*59G>T) n.1003G>T c.870G>T (p.Val290=) c.831G>T (p.Val277=) c.1125G>T (p.Val375=) c.984G>T (p.Val328=) | |
12 | g.109798794C>G | CA481867470 | TRPV4 | c.972G>C (p.Val324=) c.*59G>C (n.*59G>C) n.1003G>C c.870G>C (p.Val290=) c.831G>C (p.Val277=) c.1125G>C (p.Val375=) c.984G>C (p.Val328=) | |
12 | g.109798794C>T | CA481867471 | TRPV4 | c.972G>A (p.Val324=) c.*59G>A (n.*59G>A) n.1003G>A c.870G>A (p.Val290=) c.831G>A (p.Val277=) c.1125G>A (p.Val375=) c.984G>A (p.Val328=) | |
12 | g.109798795A= | CA2062573068 | TRPV4 | c.971T= (p.Val324=) c.*58T= (n.*58T=) n.1002T= c.869T= (p.Val290=) c.830T= (p.Val277=) c.1124T= (p.Val375=) c.983T= (p.Val328=) | |
12 | g.109798795A>C | CA386654736 | TRPV4 | c.971T>G (p.Val324Gly) c.*58T>G (n.*58T>G) n.1002T>G c.869T>G (p.Val290Gly) c.830T>G (p.Val277Gly) c.1124T>G (p.Val375Gly) c.983T>G (p.Val328Gly) | gnomAD v4 |
12 | g.109798795A>G | CA243467691 | TRPV4 | c.971T>C (p.Val324Ala) c.*58T>C (n.*58T>C) n.1002T>C c.869T>C (p.Val290Ala) c.830T>C (p.Val277Ala) c.1124T>C (p.Val375Ala) c.983T>C (p.Val328Ala) | dbSNP |
12 | g.109798795A>T | CA386654734 | TRPV4 | c.971T>A (p.Val324Glu) c.*58T>A (n.*58T>A) n.1002T>A c.869T>A (p.Val290Glu) c.830T>A (p.Val277Glu) c.1124T>A (p.Val375Glu) c.983T>A (p.Val328Glu) | |
12 | g.109798796del | CA2620828364 | TRPV4 | c.970del (p.Val324CysfsTer?) c.*57del (n.*57del) n.1001del c.868del (p.Val290CysfsTer?) c.829del (p.Val277CysfsTer?) c.1123del (p.Val375CysfsTer?) c.982del (p.Val328CysfsTer?) | gnomAD v4 |
12 | g.109798796C>A | CA386654740 | TRPV4 | c.970G>T (p.Val324Leu) c.*57G>T (n.*57G>T) n.1001G>T c.868G>T (p.Val290Leu) c.829G>T (p.Val277Leu) c.1123G>T (p.Val375Leu) c.982G>T (p.Val328Leu) | |
12 | g.109798796C>G | CA386654742 | TRPV4 | c.970G>C (p.Val324Leu) c.*57G>C (n.*57G>C) n.1001G>C c.868G>C (p.Val290Leu) c.829G>C (p.Val277Leu) c.1123G>C (p.Val375Leu) c.982G>C (p.Val328Leu) | |
12 | g.109798796C>T | CA386654744 | TRPV4 | c.970G>A (p.Val324Met) c.*57G>A (n.*57G>A) n.1001G>A c.868G>A (p.Val290Met) c.829G>A (p.Val277Met) c.1123G>A (p.Val375Met) c.982G>A (p.Val328Met) | |
12 | g.109798797T>A | CA481867476 | TRPV4 | c.969A>T (p.Thr323=) c.*56A>T (n.*56A>T) n.1000A>T c.867A>T (p.Thr289=) c.828A>T (p.Thr276=) c.1122A>T (p.Thr374=) c.981A>T (p.Thr327=) | |
12 | g.109798797T>C | CA6780376 | TRPV4 | c.969A>G (p.Thr323=) c.*56A>G (n.*56A>G) n.1000A>G c.867A>G (p.Thr289=) c.828A>G (p.Thr276=) c.1122A>G (p.Thr374=) c.981A>G (p.Thr327=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
12 | g.109798797T>G | CA481867477 | TRPV4 | c.969A>C (p.Thr323=) c.*56A>C (n.*56A>C) n.1000A>C c.867A>C (p.Thr289=) c.828A>C (p.Thr276=) c.1122A>C (p.Thr374=) c.981A>C (p.Thr327=) | ClinVar |
12 | g.109798797T= | CA2062573070 | TRPV4 | c.969A= (p.Thr323=) c.*56A= (n.*56A=) n.1000A= c.867A= (p.Thr289=) c.828A= (p.Thr276=) c.1122A= (p.Thr374=) c.981A= (p.Thr327=) | |
12 | g.109798798G>A | CA386654750 | TRPV4 | c.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) | |
12 | g.109798798G>C | CA386654751 | TRPV4 | c.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 |
12 | g.109798798G= | CA2062573072 | TRPV4 | c.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=) | |
12 | g.109798798G>T | CA386654752 | TRPV4 | c.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) | |
12 | g.109798800_109798813del | CA2620828365 | TRPV4 | c.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 |
12 | g.109798799T>A | CA386654754 | TRPV4 | c.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) | |
12 | g.109798799T>C | CA386654756 | TRPV4 | c.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) | |
12 | g.109798799T>G | CA386654758 | TRPV4 | c.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) | |
12 | g.109798800G>A | CA481867481 | TRPV4 | c.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 |
12 | g.109798800G>C | CA386654761 | TRPV4 | c.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) | |
12 | g.109798800G= | CA2062573074 | TRPV4 | c.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=) | |
12 | g.109798800G>T | CA386654763 | TRPV4 | c.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) | |
12 | g.109798801T>A | CA386654765 | TRPV4 | c.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) | |
12 | g.109798801T>C | CA6780377 | TRPV4 | c.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 |
12 | g.109798801T>G | CA386654767 | TRPV4 | c.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) | |
12 | g.109798801T= | CA2062573076 | TRPV4 | c.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=) | |
12 | g.109798802T>A | CA386654770 | TRPV4 | c.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) | |
12 | g.109798802T>C | CA386654773 | TRPV4 | c.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) | |
12 | g.109798802T>G | CA386654776 | TRPV4 | c.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) | |
12 | g.109798802_109798819delinsTGCCTCGCGAGTCCTGGC | CA2062573080 | TRPV4 | c.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=) | |
12 | g.109798803G>A | CA481867486 | TRPV4 | c.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=) | |
12 | g.109798803G>C | CA481867487 | TRPV4 | c.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=) | |
12 | g.109798803G= | CA2062573083 | TRPV4 | c.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=) | |
12 | g.109798803G>T | CA6780378 | TRPV4 | c.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 |
12 | g.109798806_109798822del | CA683428204 | TRPV4 | c.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 |
12 | g.109798804C>A | CA386654780 | TRPV4 | c.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 |
12 | g.109798804C= | CA2062573089 | TRPV4 | c.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=) | |
12 | g.109798804C>G | CA386654783 | TRPV4 | c.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) | |
12 | g.109798804C>T | CA386654785 | TRPV4 | c.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 |
12 | g.109798805C>A | CA386654788 | TRPV4 | c.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) | |
12 | g.109798805C>G | CA386654789 | TRPV4 | c.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) | |
12 | g.109798805C>T | CA386654791 | TRPV4 | c.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) | |
12 | g.109798806T>A | CA481867496 | TRPV4 | c.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=) | |
12 | g.109798806T>C | CA481867495 | TRPV4 | c.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=) | |
12 | g.109798806T>G | CA481867494 | TRPV4 | c.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=) | |
12 | g.109798807C>A | CA386654796 | TRPV4 | c.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) | |
12 | g.109798807C>G | CA386654799 | TRPV4 | c.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) | |
12 | g.109798807C>T | CA386654794 | TRPV4 | c.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 |
12 | g.109798808G>A | CA6780379 | TRPV4 | c.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 |
12 | g.109798808G>C | CA386654801 | TRPV4 | c.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) | |
12 | g.109798808G= | CA2062573091 | TRPV4 | c.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=) | |
12 | g.109798808G>T | CA481867500 | TRPV4 | c.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 |
12 | g.109798809C>A | CA481867501 | TRPV4 | c.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 |
12 | g.109798809C= | CA2062573095 | TRPV4 | c.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=) | |
12 | g.109798809C>G | CA6780380 | TRPV4 | c.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 |
12 | g.109798809C>T | CA6780381 | TRPV4 | c.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 |
12 | g.109798810G>A | CA6780382 | TRPV4 | c.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 |
12 | g.109798810G>C | CA386654808 | TRPV4 | c.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) | |
12 | g.109798810G= | CA2062573101 | TRPV4 | c.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=) | |
12 | g.109798810G>T | CA386654809 | TRPV4 | c.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) | |
12 | g.109798811A>C | CA386654815 | TRPV4 | c.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) | |
12 | g.109798811A>G | CA386654810 | TRPV4 | c.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) | |
12 | g.109798811A>T | CA386654813 | TRPV4 | c.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) | |
12 | g.109798812G>A | CA481867505 | TRPV4 | c.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=) | |
12 | g.109798812G>C | CA386654817 | TRPV4 | c.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) | |
12 | g.109798812G>T | CA386654818 | TRPV4 | c.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) | |
12 | g.109798813T>A | CA386654822 | TRPV4 | c.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) | |
12 | g.109798813T>C | CA386654823 | TRPV4 | c.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) | |
12 | g.109798813T>G | CA386654826 | TRPV4 | c.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) | |
12 | g.109798814C>A | CA386654829 | TRPV4 | c.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) | |
12 | g.109798814C>G | CA386654834 | TRPV4 | c.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) | |
12 | g.109798814C>T | CA386654831 | TRPV4 | c.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) | |
12 | g.109798815C>A | CA386654837 | TRPV4 | c.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) | |
12 | g.109798815C>G | CA386654839 | TRPV4 | c.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) | |
12 | g.109798815C>T | CA481867507 | TRPV4 | c.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 |
12 | g.109798816T>A | CA386654841 | TRPV4 | c.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) | |
12 | g.109798816T>C | CA386654844 | TRPV4 | c.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) | |
12 | g.109798816T>G | CA386654847 | TRPV4 | c.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) | |
12 | g.109798817G>A | CA386654849 | TRPV4 | c.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) | |
12 | g.109798817G>C | CA386654850 | TRPV4 | c.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) | |
12 | g.109798817G= | CA2062573102 | TRPV4 | c.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=) | |
12 | g.109798817G>T | CA386654853 | TRPV4 | c.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 |
12 | g.109798818del | CA2739277303 | TRPV4 | c.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 |
12 | g.109798818G>A | CA481867508 | TRPV4 | c.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 |
12 | g.109798818G>C | CA481867509 | TRPV4 | c.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=) | |
12 | g.109798818G= | CA2062573105 | TRPV4 | c.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=) | |
12 | g.109798818G>T | CA481867510 | TRPV4 | c.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=) | |
12 | g.109798819C>A | CA386654855 | TRPV4 | c.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 |
12 | g.109798819C= | CA2062573112 | TRPV4 | c.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=) | |
12 | g.109798819C>G | CA386654858 | TRPV4 | c.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) | |
12 | g.109798819C>T | CA259821 | TRPV4 | c.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 |
12 | g.109798820G>A | CA117182 | TRPV4 | c.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 |
12 | g.109798820G>C | CA386654863 | TRPV4 | c.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) | |
12 | g.109798820G= | CA2062573119 | TRPV4 | c.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=) | |
12 | g.109798820G>T | CA16619426 | TRPV4 | c.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 |
12 | g.109798821C>A | CA481867511 | TRPV4 | c.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=) | |
12 | g.109798821C>G | CA481867512 | TRPV4 | c.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=) | |
12 | g.109798821C>T | CA481867513 | TRPV4 | c.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=) | |
12 | g.109798822C>A | CA386654868 | TRPV4 | c.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) | |
12 | g.109798822C= | CA2062573125 | TRPV4 | c.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=) | |
12 | g.109798822C>G | CA386654871 | TRPV4 | c.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 |
12 | g.109798822C>T | CA16619427 | TRPV4 | c.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 |
12 | g.109798823G>A | CA117178 | TRPV4 | c.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 |
12 | g.109798823G>C | CA386654876 | TRPV4 | c.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 |
12 | g.109798823G= | CA2062573129 | TRPV4 | c.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=) | |
12 | g.109798823G>T | CA481867514 | TRPV4 | c.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=) | |
12 | g.109798824C>A | CA386654879 | TRPV4 | c.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) | |
12 | g.109798824C= | CA2062573132 | TRPV4 | c.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=) | |
12 | g.109798824C>G | CA386654881 | TRPV4 | c.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) | |
12 | g.109798824C>T | CA386654883 | TRPV4 | c.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 |
12 | g.109798825A>C | CA386654886 | TRPV4 | c.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) | |
12 | g.109798825A>G | CA386654887 | TRPV4 | c.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) | |
12 | g.109798825A>T | CA386654890 | TRPV4 | c.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) | |
12 | g.109798826T>A | CA386654893 | TRPV4 | c.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) | |
12 | g.109798826T>C | CA6780383 | TRPV4 | c.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 |
12 | g.109798826T>G | CA386654897 | TRPV4 | c.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) | |
12 | g.109798826T= | CA2062573135 | TRPV4 | c.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=) | |
12 | g.109798827G>A | CA481867515 | TRPV4 | c.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=) | |
12 | g.109798827G>C | CA386654899 | TRPV4 | c.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) | |
12 | g.109798827G>T | CA386654901 | TRPV4 | c.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) | |
12 | g.109798828T>A | CA386654904 | TRPV4 | c.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) | |
12 | g.109798828T>C | CA386654907 | TRPV4 | c.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) | |
12 | g.109798828T>G | CA386654908 | TRPV4 | c.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) | |
12 | g.109798829C>A | CA386654911 | TRPV4 | c.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) | |
12 | g.109798829C>G | CA386654914 | TRPV4 | c.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) | |
12 | g.109798829C>T | CA386654916 | TRPV4 | c.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) | |
12 | g.109798830C>A | CA481867516 | TRPV4 | c.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=) | |
12 | g.109798830C= | CA2062573141 | TRPV4 | c.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=) | |
12 | g.109798830C>G | CA481867517 | TRPV4 | c.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=) | |
12 | g.109798830C>T | CA6780384 | TRPV4 | c.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 |
12 | g.109798831G>A | CA6780385 | TRPV4 | c.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 |
12 | g.109798831G>C | CA386654921 | TRPV4 | c.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 |
12 | g.109798831G= | CA2062573144 | TRPV4 | c.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=) | |
12 | g.109798831G>T | CA386654922 | TRPV4 | c.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 |
12 | g.109798832C>A | CA386654925 | TRPV4 | c.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) | |
12 | g.109798832C>G | CA386654927 | TRPV4 | c.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) | |
12 | g.109798832C>T | CA386654930 | TRPV4 | c.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) | |
12 | g.109798833C>A | CA386654934 | TRPV4 | c.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 |
12 | g.109798833C>G | CA386654932 | TRPV4 | c.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) | |
12 | g.109798833C>T | CA481867518 | TRPV4 | c.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 |
12 | g.109798834T>A | CA386654938 | TRPV4 | c.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) | |
12 | g.109798834T>C | CA386654943 | TRPV4 | c.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 |
12 | g.109798834T>G | CA386654940 | TRPV4 | c.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) | |
12 | g.109798835T>A | CA386654946 | TRPV4 | c.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 |
12 | g.109798835T>C | CA386654950 | TRPV4 | c.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) | |
12 | g.109798835T>G | CA386654948 | TRPV4 | c.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) | |
12 | g.109798836C>A | CA386654952 | TRPV4 | c.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) | |
12 | g.109798836C>G | CA386654953 | TRPV4 | c.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) | |
12 | g.109798836C>T | CA481867519 | TRPV4 | c.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=) | |
12 | g.109798837T>A | CA386654957 | TRPV4 | c.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) | |
12 | g.109798837T>C | CA386654962 | TRPV4 | c.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) | |
12 | g.109798837T>G | CA386654959 | TRPV4 | c.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) | |
12 | g.109798838T>A | CA386654964 | TRPV4 | c.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) | |
12 | g.109798838T>C | CA386654966 | TRPV4 | c.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 |
12 | g.109798838T>G | CA386654967 | TRPV4 | c.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) | |
12 | g.109798839G>A | CA481867520 | TRPV4 | c.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 |
12 | g.109798839G>C | CA386654968 | TRPV4 | c.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) | |
12 | g.109798839G= | CA2062573146 | TRPV4 | c.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=) | |
12 | g.109798839G>T | CA386654970 | TRPV4 | c.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 |
12 | g.109798840T>A | CA386654973 | TRPV4 | c.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) | |
12 | g.109798840T>C | CA386654974 | TRPV4 | c.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 |
12 | g.109798840T>G | CA386654975 | TRPV4 | c.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) | |
12 | g.109798840T= | CA2062573148 | TRPV4 | c.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=) | |
12 | g.109798841G>A | CA386654977 | TRPV4 | c.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 |
12 | g.109798841G>C | CA386654979 | TRPV4 | c.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) | |
12 | g.109798841G= | CA2062573150 | TRPV4 | c.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=) | |
12 | g.109798841G>T | CA386654980 | TRPV4 | c.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) | |
12 | g.109798845dup | CA2575286498 | TRPV4 | c.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) | |
12 | g.109798842_109798845del | CA2555432096 | TRPV4 | c.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?) | |
12 | g.109798841_109798842insT | CA2797420596 | TRPV4 | c.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) | |
12 | g.109798842G>A | CA481867523 | TRPV4 | c.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 |
12 | g.109798842G>C | CA481867522 | TRPV4 | c.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=) | |
12 | g.109798842G= | CA2062573153 | TRPV4 | c.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=) | |
12 | g.109798842G>T | CA481867521 | TRPV4 | c.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=) | |
12 | g.109798843G>A | CA386654985 | TRPV4 | c.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 |
12 | g.109798843G>C | CA386654982 | TRPV4 | c.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) | |
12 | g.109798843G>T | CA386654984 | TRPV4 | c.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 |
12 | g.109798844G>A | CA386654987 | TRPV4 | c.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 |
12 | g.109798844G>C | CA386654988 | TRPV4 | c.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) | |
12 | g.109798844G= | CA2062573155 | TRPV4 | c.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=) | |
12 | g.109798844G>T | CA386654990 | TRPV4 | c.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) | |
12 | g.109798845G>A | CA481867524 | TRPV4 | c.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 |
12 | g.109798845G>C | CA386654992 | TRPV4 | c.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) | |
12 | g.109798845G= | CA2062573160 | TRPV4 | c.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=) | |
12 | g.109798845G>T | CA386654994 | TRPV4 | c.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) | |
12 | g.109798845_109798846insCCCA | CA2534602338 | TRPV4 | c.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) | |
12 | g.109798846T>A | CA386654995 | TRPV4 | c.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) | |
12 | g.109798846T>C | CA386654996 | TRPV4 | c.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 |
12 | g.109798846T>G | CA386654998 | TRPV4 | c.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) | |
12 | g.109798846T= | CA2062573162 | TRPV4 | c.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=) | |
12 | g.109798847T>A | CA386655000 | TRPV4 | c.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) | |
12 | g.109798847T>C | CA386655002 | TRPV4 | c.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 |
12 | g.109798847T>G | CA386655003 | TRPV4 | c.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) | |
12 | g.109798847T= | CA2062573164 | TRPV4 | c.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=) | |
12 | g.109798848C>A | CA386655005 | TRPV4 | c.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) | |
12 | g.109798848C>G | CA386655006 | TRPV4 | c.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) | |
12 | g.109798848C>T | CA481867525 | TRPV4 | c.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=) | |
12 | g.109798849T>A | CA386655009 | TRPV4 | c.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) | |
12 | g.109798849T>C | CA386655010 | TRPV4 | c.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) | |
12 | g.109798849T>G | CA386655011 | TRPV4 | c.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) | |
12 | g.109798850C>A | CA386655013 | TRPV4 | c.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) | |
12 | g.109798850C>G | CA386655015 | TRPV4 | c.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 |
12 | g.109798850C>T | CA386655017 | TRPV4 | c.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) | |
12 | g.109798851C>A | CA481867526 | TRPV4 | c.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=) | |
12 | g.109798851C= | CA2062573167 | TRPV4 | c.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=) | |
12 | g.109798851C>G | CA481867527 | TRPV4 | c.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 |
12 | g.109798851C>T | CA481867528 | TRPV4 | c.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 |
12 | g.109798852G>A | CA6780386 | TRPV4 | c.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 |
12 | g.109798852G>C | CA386655020 | TRPV4 | c.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) | |
12 | g.109798852G= | CA2062573170 | TRPV4 | c.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=) | |
12 | g.109798852G>T | CA386655021 | TRPV4 | c.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) | |
12 | g.109798853T>A | CA386655023 | TRPV4 | c.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) | |
12 | g.109798853T>C | CA386655025 | TRPV4 | c.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) | |
12 | g.109798853T>G | CA386655026 | TRPV4 | c.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 |
12 | g.109798854C>A | CA481867529 | TRPV4 | c.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=) | |
12 | g.109798854C= | CA2062573173 | TRPV4 | c.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=) | |
12 | g.109798854C>G | CA481867530 | TRPV4 | c.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=) | |
12 | g.109798854C>T | CA481867531 | TRPV4 | c.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 |
12 | g.109798855A>C | CA386655029 | TRPV4 | c.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) | |
12 | g.109798855A>G | CA386655027 | TRPV4 | c.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) | |
12 | g.109798855A>T | CA386655028 | TRPV4 | c.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) | |
12 | g.109798856G>A | CA481867532 | TRPV4 | c.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 |
12 | g.109798856G>C | CA386655031 | TRPV4 | c.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) | |
12 | g.109798856G= | CA2062573175 | TRPV4 | c.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=) | |
12 | g.109798856G>T | CA386655033 | TRPV4 | c.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) | |
12 | g.109798857G>A | CA481867533 | TRPV4 | c.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 |
12 | g.109798857G>C | CA386655034 | TRPV4 | c.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) | |
12 | g.109798857G>T | CA386655036 | TRPV4 | c.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) | |
12 | g.109798858T>A | CA386655038 | TRPV4 | c.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) | |
12 | g.109798858T>C | CA386655039 | TRPV4 | c.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 |
12 | g.109798858T>G | CA386655041 | TRPV4 | c.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) | |
12 | g.109798859A>C | CA386655046 | TRPV4 | c.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) | |
12 | g.109798859A>G | CA386655047 | TRPV4 | c.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) | |
12 | g.109798859A>T | CA386655049 | TRPV4 | c.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) | |
12 | g.109798860G>A | CA481867534 | TRPV4 | c.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=) | |
12 | g.109798860G>C | CA386655050 | TRPV4 | c.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) | |
12 | g.109798860G>T | CA386655052 | TRPV4 | c.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) | |
12 | g.109798861T>A | CA386655054 | TRPV4 | c.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) | |
12 | g.109798861T>C | CA386655056 | TRPV4 | c.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 |
12 | g.109798861T>G | CA386655053 | TRPV4 | c.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) | |
12 | g.109798862T>A | CA6780387 | TRPV4 | c.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 |
12 | g.109798862T>C | CA386655057 | TRPV4 | c.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) | |
12 | g.109798862T>G | CA386655059 | TRPV4 | c.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) | |
12 | g.109798862T= | CA2062573179 | TRPV4 | c.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=) | |
12 | g.109798863G>A | CA481867535 | TRPV4 | c.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=) | |
12 | g.109798863G>C | CA6780388 | TRPV4 | c.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 |
12 | g.109798863G= | CA2062573184 | TRPV4 | c.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=) | |
12 | g.109798863G>T | CA481867536 | TRPV4 | c.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 |
12 | g.109798864A>C | CA386655062 | TRPV4 | c.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) | |
12 | g.109798864A>G | CA386655063 | TRPV4 | c.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) | |
12 | g.109798864A>T | CA386655064 | TRPV4 | c.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) | |
12 | g.109798865C>A | CA386655067 | TRPV4 | c.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) | |
12 | g.109798865C>G | CA386655070 | TRPV4 | c.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) | |
12 | g.109798865C>T | CA386655069 | TRPV4 | c.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 |
12 | g.109798866A>C | CA386655072 | TRPV4 | c.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) | |
12 | g.109798866A>G | CA481867538 | TRPV4 | c.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=) | |
12 | g.109798866A>T | CA481867537 | TRPV4 | c.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=) | |
12 | g.109798867A>C | CA386655074 | TRPV4 | c.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) | |
12 | g.109798867A>G | CA386655075 | TRPV4 | c.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 |
12 | g.109798867A>T | CA386655077 | TRPV4 | c.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) | |
12 | g.109798868T>A | CA386655079 | TRPV4 | c.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) | |
12 | g.109798868T>C | CA6780389 | TRPV4 | c.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 |
12 | g.109798868T>G | CA386655081 | TRPV4 | c.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) | |
12 | g.109798868T= | CA2062573187 | TRPV4 | c.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=) | |
12 | g.109798869G>A | CA481867539 | TRPV4 | c.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 |
12 | g.109798869G>C | CA386655083 | TRPV4 | c.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) | |
12 | g.109798869G= | CA2062573189 | TRPV4 | c.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=) | |
12 | g.109798869G>T | CA386655085 | TRPV4 | c.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) | |
12 | g.109798870T>A | CA386655088 | TRPV4 | c.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) | |
12 | g.109798870T>C | CA386655089 | TRPV4 | c.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) | |
12 | g.109798870T>G | CA386655091 | TRPV4 | c.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) | |
12 | g.109798871G>A | CA386655093 | TRPV4 | c.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) | |
12 | g.109798871G>C | CA386655095 | TRPV4 | c.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 |
12 | g.109798871G>T | CA386655097 | TRPV4 | c.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 |
12 | g.109798874dup | CA2580085802 | TRPV4 | c.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 |
12 | g.109798872G>A | CA6780390 | TRPV4 | c.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 |
12 | g.109798872G>C | CA481867540 | TRPV4 | c.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=) | |
12 | g.109798872G= | CA2062573192 | TRPV4 | c.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=) | |
12 | g.109798872G>T | CA481867541 | TRPV4 | c.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=) | |
12 | g.109798873G>A | CA386655101 | TRPV4 | c.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) | |
12 | g.109798873G>C | CA386655102 | TRPV4 | c.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) | |
12 | g.109798873G>T | CA386655104 | TRPV4 | c.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 |
12 | g.109798874G>A | CA386655107 | TRPV4 | c.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) | |
12 | g.109798874G>C | CA386655110 | TRPV4 | c.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) | |
12 | g.109798874G>T | CA386655108 | TRPV4 | c.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 |
12 | g.109798875C>A | CA386655112 | TRPV4 | c.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) | |
12 | g.109798875C>G | CA386655114 | TRPV4 | c.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) | |
12 | g.109798875C>T | CA481867545 | TRPV4 | c.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=) |