ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease axonal type 2C by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 951
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021625.5(TRPV4):c.670A>C (p.Arg224=) rs3825394 0.60669
NM_021625.5(TRPV4):c.2034C>T (p.Ile678=) rs3742037 0.14446
NM_021625.5(TRPV4):c.789T>C (p.Asp263=) rs3742034 0.12664
NM_021625.5(TRPV4):c.795C>T (p.His265=) rs1344554 0.08478
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_021625.5(TRPV4):c.387-4C>T rs12305439 0.01630
NM_021625.5(TRPV4):c.33G>T (p.Gly11=) rs56092423 0.00939
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_021625.5(TRPV4):c.1341C>T (p.His447=) rs57316123 0.00683
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00673
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=) rs35078611 0.00542
NM_021625.5(TRPV4):c.712+10C>T rs115657305 0.00260
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_021625.5(TRPV4):c.1825-14G>A rs114829048 0.00206
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met) rs185933892 0.00191
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_021625.5(TRPV4):c.1581C>T (p.Thr527=) rs114653066 0.00182
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_021625.5(TRPV4):c.57C>T (p.Pro19=) rs112408790 0.00161
NM_021625.5(TRPV4):c.1585-18C>T rs201974634 0.00148
NM_021625.5(TRPV4):c.28G>C (p.Ala10Pro) rs376436045 0.00141
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=) rs141244183 0.00108
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636 0.00096
NM_021625.5(TRPV4):c.1284G>A (p.Gly428=) rs150773110 0.00093
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=) rs149988106 0.00071
NM_021625.5(TRPV4):c.549G>A (p.Glu183=) rs141908793 0.00058
NM_021625.5(TRPV4):c.1656del (p.Tyr553fs) rs541606391 0.00054
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_021625.5(TRPV4):c.898A>G (p.Ile300Val) rs114612488 0.00046
NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu) rs115861965 0.00043
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=) rs141295418 0.00043
NM_021625.5(TRPV4):c.1093G>A (p.Val365Met) rs570675468 0.00042
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_021625.5(TRPV4):c.426G>A (p.Pro142=) rs145327152 0.00031
NM_021625.5(TRPV4):c.1464C>T (p.Thr488=) rs146841400 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_021625.5(TRPV4):c.501C>T (p.Asp167=) rs77680510 0.00026
NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg) rs201241092 0.00025
NM_021625.5(TRPV4):c.1584+12G>T rs375908611 0.00022
NM_021625.5(TRPV4):c.1421A>G (p.Asn474Ser) rs150461804 0.00021
NM_021625.5(TRPV4):c.2559C>T (p.Cys853=) rs139580010 0.00021
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547 0.00020
NM_021625.5(TRPV4):c.1584+13C>T rs199712027 0.00020
NM_021625.5(TRPV4):c.2209-5C>T rs374184761 0.00019
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=) rs202036871 0.00019
NM_021625.5(TRPV4):c.1584C>T (p.Asn528=) rs142749412 0.00016
NM_021625.5(TRPV4):c.1658+15C>T rs200083069 0.00016
NM_021625.5(TRPV4):c.1884C>T (p.Tyr628=) rs369752162 0.00016
NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu) rs201927283 0.00016
NM_021625.5(TRPV4):c.661G>A (p.Gly221Ser) rs373539744 0.00016
NM_021625.5(TRPV4):c.956C>T (p.Ser319Leu) rs377518118 0.00016
NM_021625.5(TRPV4):c.1278G>A (p.Thr426=) rs139179261 0.00015
NM_021625.5(TRPV4):c.1976C>T (p.Ser659Leu) rs779715512 0.00015
NM_021625.5(TRPV4):c.732C>T (p.Ile244=) rs142647385 0.00014
NM_021625.5(TRPV4):c.137C>T (p.Ser46Phe) rs202066574 0.00013
NM_021625.5(TRPV4):c.386+10G>A rs373979504 0.00013
NM_021625.5(TRPV4):c.1311G>C (p.Leu437=) rs148225182 0.00011
NM_021625.5(TRPV4):c.1404C>T (p.Ala468=) rs138301077 0.00011
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=) rs146929022 0.00010
NM_021625.5(TRPV4):c.1491+8C>T rs752455441 0.00009
NM_021625.5(TRPV4):c.1891+17C>T rs376766007 0.00009
NM_021625.5(TRPV4):c.2514G>A (p.Pro838=) rs576688961 0.00009
NM_021625.5(TRPV4):c.2609C>T (p.Pro870Leu) rs756526036 0.00009
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met) rs140535889 0.00008
NM_021625.5(TRPV4):c.2307C>T (p.Asp769=) rs200372627 0.00008
NM_021625.5(TRPV4):c.143C>T (p.Ser48Leu) rs756185743 0.00007
NM_021625.5(TRPV4):c.2320C>T (p.Arg774Cys) rs145102919 0.00007
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=) rs546957932 0.00007
NM_021625.5(TRPV4):c.387-9C>T rs552614584 0.00007
NM_021625.5(TRPV4):c.655C>T (p.Arg219Cys) rs754023659 0.00007
NM_021625.5(TRPV4):c.1092C>T (p.Ala364=) rs761716884 0.00006
NM_021625.5(TRPV4):c.1107C>T (p.Asp369=) rs771626710 0.00006
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021625.5(TRPV4):c.144G>A (p.Ser48=) rs748274621 0.00006
NM_021625.5(TRPV4):c.1491+5G>C rs375360273 0.00006
NM_021625.5(TRPV4):c.1554C>T (p.Leu518=) rs374644279 0.00006
NM_021625.5(TRPV4):c.1728C>T (p.Ala576=) rs149742074 0.00006
NM_021625.5(TRPV4):c.1982G>A (p.Arg661His) rs368448939 0.00006
NM_021625.5(TRPV4):c.226C>T (p.Arg76Cys) rs777647151 0.00006
NM_021625.5(TRPV4):c.2484C>T (p.Arg828=) rs142656819 0.00006
NM_021625.5(TRPV4):c.25C>T (p.Arg9Cys) rs758741868 0.00006
NM_021625.5(TRPV4):c.2605G>A (p.Ala869Thr) rs138396764 0.00006
NM_021625.5(TRPV4):c.709C>T (p.Arg237Ter) rs746368269 0.00006
NM_021625.5(TRPV4):c.745C>T (p.Arg249Cys) rs148041016 0.00006
NM_021625.5(TRPV4):c.746G>A (p.Arg249His) rs771294425 0.00006
NM_021625.5(TRPV4):c.958C>T (p.Arg320Ter) rs142902080 0.00006
NM_021625.5(TRPV4):c.963C>A (p.Gly321=) rs148534854 0.00006
NM_021625.5(TRPV4):c.1063C>T (p.Arg355Cys) rs143604694 0.00005
NM_021625.5(TRPV4):c.1846C>T (p.Arg616Ter) rs545966662 0.00005
NM_021625.5(TRPV4):c.1885G>A (p.Ala629Thr) rs200838499 0.00005
NM_021625.5(TRPV4):c.202C>T (p.Arg68Cys) rs199624080 0.00005
NM_021625.5(TRPV4):c.2247C>T (p.Pro749=) rs141135321 0.00005
NM_021625.5(TRPV4):c.2270G>A (p.Arg757His) rs143835743 0.00005
NM_021625.5(TRPV4):c.2459-4G>A rs762182385 0.00005
NM_021625.5(TRPV4):c.847T>A (p.Tyr283Asn) rs200210023 0.00005
NM_021625.5(TRPV4):c.854-18C>T rs368607653 0.00005
NM_021625.5(TRPV4):c.1039G>T (p.Asp347Tyr) rs1006063188 0.00004
NM_021625.5(TRPV4):c.1062C>T (p.Ala354=) rs115446386 0.00004
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=) rs140040335 0.00004
NM_021625.5(TRPV4):c.1175G>A (p.Arg392Gln) rs770364304 0.00004
NM_021625.5(TRPV4):c.1281T>C (p.Cys427=) rs577991131 0.00004
NM_021625.5(TRPV4):c.1449C>G (p.Val483=) rs1060504550 0.00004
NM_021625.5(TRPV4):c.1491+17C>T rs763452614 0.00004
NM_021625.5(TRPV4):c.1492-17C>T rs533510842 0.00004
NM_021625.5(TRPV4):c.153G>A (p.Pro51=) rs577306678 0.00004
NM_021625.5(TRPV4):c.1543G>T (p.Val515Phe) rs777901220 0.00004
NM_021625.5(TRPV4):c.1584+18G>A rs10850750 0.00004
NM_021625.5(TRPV4):c.1584+18del rs757667255 0.00004
NM_021625.5(TRPV4):c.1899C>T (p.Val633=) rs753027239 0.00004
NM_021625.5(TRPV4):c.190C>T (p.Arg64Ter) rs372452565 0.00004
NM_021625.5(TRPV4):c.1989C>T (p.Ser663=) rs778560334 0.00004
NM_021625.5(TRPV4):c.2010C>T (p.Leu670=) rs755755753 0.00004
NM_021625.5(TRPV4):c.205A>C (p.Met69Leu) rs200199102 0.00004
NM_021625.5(TRPV4):c.2388C>T (p.Asn796=) rs116685089 0.00004
NM_021625.5(TRPV4):c.375G>A (p.Lys125=) rs777366805 0.00004
NM_021625.5(TRPV4):c.387-6C>T rs775634013 0.00004
NM_021625.5(TRPV4):c.656G>A (p.Arg219His) rs767331924 0.00004
NM_021625.5(TRPV4):c.711A>G (p.Arg237=) rs927188562 0.00004
NM_021625.5(TRPV4):c.1038C>T (p.Tyr346=) rs750086412 0.00003
NM_021625.5(TRPV4):c.1104C>T (p.Asn368=) rs768593770 0.00003
NM_021625.5(TRPV4):c.114T>A (p.Asn38Lys) rs878853090 0.00003
NM_021625.5(TRPV4):c.1152+10C>T rs766655934 0.00003
NM_021625.5(TRPV4):c.1211G>A (p.Arg404His) rs377257364 0.00003
NM_021625.5(TRPV4):c.1332+18G>A rs769199876 0.00003
NM_021625.5(TRPV4):c.1379G>A (p.Arg460Gln) rs202244562 0.00003
NM_021625.5(TRPV4):c.1422C>T (p.Asn474=) rs140533102 0.00003
NM_021625.5(TRPV4):c.1431C>T (p.Ser477=) rs567786988 0.00003
NM_021625.5(TRPV4):c.1496C>T (p.Pro499Leu) rs115358347 0.00003
NM_021625.5(TRPV4):c.1514C>T (p.Thr505Met) rs375574238 0.00003
NM_021625.5(TRPV4):c.1659-11C>T rs1020641928 0.00003
NM_021625.5(TRPV4):c.1827T>A (p.Ile609=) rs757493897 0.00003
NM_021625.5(TRPV4):c.1912C>G (p.Pro638Ala) rs760044422 0.00003
NM_021625.5(TRPV4):c.1981C>T (p.Arg661Cys) rs772074281 0.00003
NM_021625.5(TRPV4):c.2193C>T (p.His731=) rs767397092 0.00003
NM_021625.5(TRPV4):c.2236C>T (p.Arg746Cys) rs375189134 0.00003
NM_021625.5(TRPV4):c.2513C>T (p.Pro838Leu) rs140602150 0.00003
NM_021625.5(TRPV4):c.2540G>T (p.Ser847Ile) rs145184680 0.00003
NM_021625.5(TRPV4):c.2584C>T (p.Arg862Cys) rs149267166 0.00003
NM_021625.5(TRPV4):c.2604C>T (p.Asp868=) rs111598467 0.00003
NM_021625.5(TRPV4):c.36C>T (p.Pro12=) rs550200361 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_021625.5(TRPV4):c.465T>C (p.Phe155=) rs776500475 0.00003
NM_021625.5(TRPV4):c.478C>T (p.Arg160Trp) rs780102339 0.00003
NM_021625.5(TRPV4):c.742C>T (p.Arg248Cys) rs370289434 0.00003
NM_021625.5(TRPV4):c.1108G>A (p.Gly370Ser) rs146053143 0.00002
NM_021625.5(TRPV4):c.1116G>A (p.Ser372=) rs369811541 0.00002
NM_021625.5(TRPV4):c.1152+20C>A rs201584110 0.00002
NM_021625.5(TRPV4):c.1158T>G (p.Phe386Leu) rs760428569 0.00002
NM_021625.5(TRPV4):c.1171C>T (p.Arg391Trp) rs775385702 0.00002
NM_021625.5(TRPV4):c.1198C>T (p.Arg400Trp) rs781711282 0.00002
NM_021625.5(TRPV4):c.1199G>A (p.Arg400Gln) rs926925253 0.00002
NM_021625.5(TRPV4):c.1328T>C (p.Ile443Thr) rs1032807952 0.00002
NM_021625.5(TRPV4):c.1332+12G>A rs761558541 0.00002
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg) rs201132615 0.00002
NM_021625.5(TRPV4):c.1443C>G (p.Ala481=) rs925307171 0.00002
NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr) rs758280554 0.00002
NM_021625.5(TRPV4):c.1549A>G (p.Thr517Ala) rs1085307827 0.00002
NM_021625.5(TRPV4):c.1551G>A (p.Thr517=) rs754598807 0.00002
NM_021625.5(TRPV4):c.1566C>G (p.Val522=) rs765724064 0.00002
NM_021625.5(TRPV4):c.1578C>T (p.Phe526=) rs762257218 0.00002
NM_021625.5(TRPV4):c.183C>T (p.Gly61=) rs773744592 0.00002
NM_021625.5(TRPV4):c.191G>A (p.Arg64Gln) rs1199457372 0.00002
NM_021625.5(TRPV4):c.2106C>T (p.Tyr702=) rs373961067 0.00002
NM_021625.5(TRPV4):c.2158G>A (p.Glu720Lys) rs1481500312 0.00002
NM_021625.5(TRPV4):c.219C>T (p.Gly73=) rs201523762 0.00002
NM_021625.5(TRPV4):c.2238C>T (p.Arg746=) rs768237019 0.00002
NM_021625.5(TRPV4):c.2269C>T (p.Arg757Cys) rs757814511 0.00002
NM_021625.5(TRPV4):c.2432C>T (p.Ser811Leu) rs756076344 0.00002
NM_021625.5(TRPV4):c.2508G>A (p.Ser836=) rs201884175 0.00002
NM_021625.5(TRPV4):c.2554C>T (p.Arg852Cys) rs372583866 0.00002
NM_021625.5(TRPV4):c.2585G>A (p.Arg862His) rs371989034 0.00002
NM_021625.5(TRPV4):c.2610G>A (p.Pro870=) rs548680957 0.00002
NM_021625.5(TRPV4):c.29C>T (p.Ala10Val) rs772563295 0.00002
NM_021625.5(TRPV4):c.479G>A (p.Arg160Gln) rs139300843 0.00002
NM_021625.5(TRPV4):c.523A>G (p.Thr175Ala) rs146304351 0.00002
NM_021625.5(TRPV4):c.616C>T (p.Arg206Cys) rs200497189 0.00002
NM_021625.5(TRPV4):c.646A>G (p.Ile216Val) rs1318320106 0.00002
NM_021625.5(TRPV4):c.651G>A (p.Ala217=) rs371280831 0.00002
NM_021625.5(TRPV4):c.704A>G (p.Tyr235Cys) rs754848195 0.00002
NM_021625.5(TRPV4):c.743G>A (p.Arg248His) rs759859968 0.00002
NM_021625.5(TRPV4):c.771C>T (p.Leu257=) rs778796999 0.00002
NM_021625.5(TRPV4):c.981G>A (p.Ala327=) rs369752825 0.00002
NM_021625.5(TRPV4):c.1002C>T (p.Asn334=) rs1034780415 0.00001
NM_021625.5(TRPV4):c.1007G>A (p.Arg336His) rs768028153 0.00001
NM_021625.5(TRPV4):c.1053C>G (p.Leu351=) rs1890580285 0.00001
NM_021625.5(TRPV4):c.1064G>A (p.Arg355His) rs764715510 0.00001
NM_021625.5(TRPV4):c.1073C>T (p.Pro358Leu) rs752782460 0.00001
NM_021625.5(TRPV4):c.1075G>A (p.Asp359Asn) rs774779620 0.00001
NM_021625.5(TRPV4):c.1084C>A (p.Leu362Met) rs1238768782 0.00001
NM_021625.5(TRPV4):c.1115C>T (p.Ser372Leu) rs1479394096 0.00001
NM_021625.5(TRPV4):c.1134C>T (p.Ala378=) rs375468689 0.00001
NM_021625.5(TRPV4):c.1148T>C (p.Ile383Thr) rs759729089 0.00001
NM_021625.5(TRPV4):c.1152+11G>A rs763116011 0.00001
NM_021625.5(TRPV4):c.1153-16C>T rs371581388 0.00001
NM_021625.5(TRPV4):c.1162C>T (p.His388Tyr) rs1201172376 0.00001
NM_021625.5(TRPV4):c.1174C>T (p.Arg392Trp) rs759501013 0.00001
NM_021625.5(TRPV4):c.1184C>T (p.Thr395Met) rs374197231 0.00001
NM_021625.5(TRPV4):c.1277C>T (p.Thr426Met) rs757522459 0.00001
NM_021625.5(TRPV4):c.1333-20G>A rs538807931 0.00001
NM_021625.5(TRPV4):c.1333-5C>T rs761542549 0.00001
NM_021625.5(TRPV4):c.1336C>T (p.Arg446Cys) rs145900289 0.00001
NM_021625.5(TRPV4):c.1342G>A (p.Glu448Lys) rs373103155 0.00001
NM_021625.5(TRPV4):c.1390C>T (p.Arg464Cys) rs373049874 0.00001
NM_021625.5(TRPV4):c.1392C>T (p.Arg464=) rs182609216 0.00001
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=) rs189872222 0.00001
NM_021625.5(TRPV4):c.1458T>C (p.Thr486=) rs979616754 0.00001
NM_021625.5(TRPV4):c.145C>A (p.Pro49Thr) rs546287338 0.00001
NM_021625.5(TRPV4):c.1469A>G (p.Tyr490Cys) rs745759761 0.00001
NM_021625.5(TRPV4):c.1478C>T (p.Pro493Leu) rs757284253 0.00001
NM_021625.5(TRPV4):c.1479G>A (p.Pro493=) rs1337838267 0.00001
NM_021625.5(TRPV4):c.1493C>T (p.Pro498Leu) rs1051494811 0.00001
NM_021625.5(TRPV4):c.1507C>T (p.Arg503Cys) rs750992130 0.00001
NM_021625.5(TRPV4):c.1508G>A (p.Arg503His) rs765199576 0.00001
NM_021625.5(TRPV4):c.1509C>T (p.Arg503=) rs892473691 0.00001
NM_021625.5(TRPV4):c.1510A>G (p.Thr504Ala) rs762000967 0.00001
NM_021625.5(TRPV4):c.1522T>C (p.Tyr508His) rs1167973138 0.00001
NM_021625.5(TRPV4):c.1528C>T (p.Arg510Trp) rs918220829 0.00001
NM_021625.5(TRPV4):c.1563G>A (p.Gly521=) rs750906932 0.00001
NM_021625.5(TRPV4):c.1577T>G (p.Phe526Cys) rs1329377960 0.00001
NM_021625.5(TRPV4):c.1584+16C>G rs748046273 0.00001
NM_021625.5(TRPV4):c.1584+17C>T rs1272331727 0.00001
NM_021625.5(TRPV4):c.1584+1G>A rs775922797 0.00001
NM_021625.5(TRPV4):c.1586T>C (p.Ile529Thr) rs976191720 0.00001
NM_021625.5(TRPV4):c.159T>A (p.Asp53Glu) rs765021989 0.00001
NM_021625.5(TRPV4):c.15C>T (p.Ser5=) rs751824781 0.00001
NM_021625.5(TRPV4):c.1600A>G (p.Met534Val) rs761079651 0.00001
NM_021625.5(TRPV4):c.1601T>C (p.Met534Thr) rs775011025 0.00001
NM_021625.5(TRPV4):c.1608A>G (p.Lys536=) rs1438689509 0.00001
NM_021625.5(TRPV4):c.1626T>C (p.Ser542=) rs745522429 0.00001
NM_021625.5(TRPV4):c.1634T>A (p.Ile545Asn) rs757630049 0.00001
NM_021625.5(TRPV4):c.1658+10G>A rs1890171906 0.00001
NM_021625.5(TRPV4):c.1658+5G>A rs756714651 0.00001
NM_021625.5(TRPV4):c.166C>T (p.Arg56Cys) rs775092573 0.00001
NM_021625.5(TRPV4):c.1683C>T (p.Ile561=) rs780088701 0.00001
NM_021625.5(TRPV4):c.16G>A (p.Glu6Lys) rs769769057 0.00001
NM_021625.5(TRPV4):c.1700A>T (p.Tyr567Phe) rs763889344 0.00001
NM_021625.5(TRPV4):c.1701C>A (p.Tyr567Ter) rs515726156 0.00001
NM_021625.5(TRPV4):c.1780C>T (p.Arg594Cys) rs868185064 0.00001
NM_021625.5(TRPV4):c.1818C>T (p.Ile606=) rs780184323 0.00001
NM_021625.5(TRPV4):c.1824+14G>A rs1019790413 0.00001
NM_021625.5(TRPV4):c.1825-12T>G rs957764571 0.00001
NM_021625.5(TRPV4):c.184G>A (p.Asp62Asn) rs770149544 0.00001
NM_021625.5(TRPV4):c.1857C>T (p.Leu619=) rs781048658 0.00001
NM_021625.5(TRPV4):c.1892-9C>T rs376975164 0.00001
NM_021625.5(TRPV4):c.1909A>T (p.Asn637Tyr) rs1417825919 0.00001
NM_021625.5(TRPV4):c.1914G>A (p.Pro638=) rs372476984 0.00001
NM_021625.5(TRPV4):c.1977G>A (p.Ser659=) rs1889847260 0.00001
NM_021625.5(TRPV4):c.19G>T (p.Gly7Cys) rs1258802633 0.00001
NM_021625.5(TRPV4):c.2013G>A (p.Leu671=) rs753041811 0.00001
NM_021625.5(TRPV4):c.2035G>A (p.Gly679Ser) rs1413159026 0.00001
NM_021625.5(TRPV4):c.2038A>G (p.Met680Val) rs114408421 0.00001
NM_021625.5(TRPV4):c.2042G>A (p.Gly681Asp) rs766420746 0.00001
NM_021625.5(TRPV4):c.2076C>T (p.Pro692=) rs769988861 0.00001
NM_021625.5(TRPV4):c.2077G>A (p.Val693Met) rs761952727 0.00001
NM_021625.5(TRPV4):c.2088C>T (p.Ile696=) rs367846257 0.00001
NM_021625.5(TRPV4):c.2092C>T (p.Leu698=) rs774321681 0.00001
NM_021625.5(TRPV4):c.209A>T (p.Lys70Met) rs1437603973 0.00001
NM_021625.5(TRPV4):c.20G>A (p.Gly7Asp) rs1213728059 0.00001
NM_021625.5(TRPV4):c.2125C>T (p.Leu709=) rs116571438 0.00001
NM_021625.5(TRPV4):c.2136C>T (p.Asn712=) rs959967236 0.00001
NM_021625.5(TRPV4):c.2142C>T (p.Leu714=) rs751939888 0.00001
NM_021625.5(TRPV4):c.214C>T (p.Gln72Ter) rs866577166 0.00001
NM_021625.5(TRPV4):c.2157C>T (p.Gly719=) rs150719390 0.00001
NM_021625.5(TRPV4):c.2162C>G (p.Thr721Arg) rs1423138633 0.00001
NM_021625.5(TRPV4):c.2167G>A (p.Gly723Ser) rs1889833666 0.00001
NM_021625.5(TRPV4):c.2198G>A (p.Trp733Ter) rs200757159 0.00001
NM_021625.5(TRPV4):c.2209-1G>A rs1262326007 0.00001
NM_021625.5(TRPV4):c.2226G>A (p.Leu742=) rs769329467 0.00001
NM_021625.5(TRPV4):c.2236C>G (p.Arg746Gly) rs375189134 0.00001
NM_021625.5(TRPV4):c.2244C>T (p.Phe748=) rs1340974810 0.00001
NM_021625.5(TRPV4):c.2267T>A (p.Phe756Tyr) rs779238510 0.00001
NM_021625.5(TRPV4):c.227G>T (p.Arg76Leu) rs1435404361 0.00001
NM_021625.5(TRPV4):c.2295C>G (p.Gly765=) rs753038628 0.00001
NM_021625.5(TRPV4):c.2336+1G>A rs771778984 0.00001
NM_021625.5(TRPV4):c.2349G>A (p.Val783=) rs778478432 0.00001
NM_021625.5(TRPV4):c.2387A>G (p.Asn796Ser) rs1188535536 0.00001
NM_021625.5(TRPV4):c.2391G>A (p.Glu797=) rs781358829 0.00001
NM_021625.5(TRPV4):c.2425G>A (p.Gly809Ser) rs375851168 0.00001
NM_021625.5(TRPV4):c.2439C>T (p.Thr813=) rs545589086 0.00001
NM_021625.5(TRPV4):c.2440G>T (p.Val814Leu) rs202075458 0.00001
NM_021625.5(TRPV4):c.2446C>T (p.Arg816Cys) rs748742151 0.00001
NM_021625.5(TRPV4):c.2447G>A (p.Arg816His) rs1431224527 0.00001
NM_021625.5(TRPV4):c.2452C>T (p.Arg818Cys) rs776544875 0.00001
NM_021625.5(TRPV4):c.2454C>G (p.Arg818=) rs1238590299 0.00001
NM_021625.5(TRPV4):c.2458+11G>A rs780193230 0.00001
NM_021625.5(TRPV4):c.2458+20C>T rs754572256 0.00001
NM_021625.5(TRPV4):c.2458G>T (p.Asp820Tyr) rs768849310 0.00001
NM_021625.5(TRPV4):c.2459-8C>T rs967681987 0.00001
NM_021625.5(TRPV4):c.2459A>G (p.Asp820Gly) rs754158623 0.00001
NM_021625.5(TRPV4):c.2499C>A (p.Asn833Lys) rs147045782 0.00001
NM_021625.5(TRPV4):c.2507C>T (p.Ser836Leu) rs768620169 0.00001
NM_021625.5(TRPV4):c.2550C>T (p.Asn850=) rs571407723 0.00001
NM_021625.5(TRPV4):c.2555G>A (p.Arg852His) rs1276147923 0.00001
NM_021625.5(TRPV4):c.2558G>A (p.Cys853Tyr) rs771139646 0.00001
NM_021625.5(TRPV4):c.2560G>A (p.Asp854Asn) rs368963822 0.00001
NM_021625.5(TRPV4):c.26G>A (p.Arg9His) rs776163103 0.00001
NM_021625.5(TRPV4):c.300G>A (p.Lys100=) rs370135765 0.00001
NM_021625.5(TRPV4):c.330C>T (p.Tyr110=) rs777176504 0.00001
NM_021625.5(TRPV4):c.331G>A (p.Gly111Ser) rs768721947 0.00001
NM_021625.5(TRPV4):c.340C>T (p.Arg114Cys) rs747135844 0.00001
NM_021625.5(TRPV4):c.341G>A (p.Arg114His) rs780302795 0.00001
NM_021625.5(TRPV4):c.345C>G (p.His115Gln) rs1420465373 0.00001
NM_021625.5(TRPV4):c.384A>G (p.Ile128Met) rs1891728218 0.00001
NM_021625.5(TRPV4):c.386+14G>A rs1327605836 0.00001
NM_021625.5(TRPV4):c.387-17C>T rs1214680066 0.00001
NM_021625.5(TRPV4):c.393G>A (p.Gln131=) rs754924433 0.00001
NM_021625.5(TRPV4):c.395C>T (p.Pro132Leu) rs779371027 0.00001
NM_021625.5(TRPV4):c.425C>T (p.Pro142Leu) rs1193945019 0.00001
NM_021625.5(TRPV4):c.442G>A (p.Val148Ile) rs998631604 0.00001
NM_021625.5(TRPV4):c.472G>A (p.Val158Met) rs746905653 0.00001
NM_021625.5(TRPV4):c.477C>G (p.Ser159=) rs905858151 0.00001
NM_021625.5(TRPV4):c.502G>A (p.Gly168Arg) rs756559560 0.00001
NM_021625.5(TRPV4):c.507G>T (p.Leu169=) rs753141319 0.00001
NM_021625.5(TRPV4):c.50A>G (p.Glu17Gly) rs989621170 0.00001
NM_021625.5(TRPV4):c.535C>T (p.Arg179Cys) rs751647405 0.00001
NM_021625.5(TRPV4):c.536G>A (p.Arg179His) rs1362478789 0.00001
NM_021625.5(TRPV4):c.556C>T (p.Arg186Ter) rs773622769 0.00001
NM_021625.5(TRPV4):c.560-12C>G rs752125058 0.00001
NM_021625.5(TRPV4):c.561G>A (p.Glu187=) rs1190778746 0.00001
NM_021625.5(TRPV4):c.58G>A (p.Gly20Arg) rs764970185 0.00001
NM_021625.5(TRPV4):c.593C>G (p.Ala198Gly) rs775317084 0.00001
NM_021625.5(TRPV4):c.615C>A (p.Gly205=) rs377729962 0.00001
NM_021625.5(TRPV4):c.621C>T (p.Asn207=) rs777168770 0.00001
NM_021625.5(TRPV4):c.622G>A (p.Asp208Asn) rs769445973 0.00001
NM_021625.5(TRPV4):c.624C>T (p.Asp208=) rs372000524 0.00001
NM_021625.5(TRPV4):c.630C>T (p.Ile210=) rs755447747 0.00001
NM_021625.5(TRPV4):c.648C>T (p.Ile216=) rs201254881 0.00001
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val) rs548909101 0.00001
NM_021625.5(TRPV4):c.660C>T (p.Thr220=) rs139983004 0.00001
NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu) rs373980330 0.00001
NM_021625.5(TRPV4):c.687G>A (p.Ser229=) rs545660001 0.00001
NM_021625.5(TRPV4):c.690C>T (p.Pro230=) rs747822070 0.00001
NM_021625.5(TRPV4):c.695G>A (p.Arg232His) rs769107613 0.00001
NM_021625.5(TRPV4):c.69T>G (p.Ser23Arg) rs970940485 0.00001
NM_021625.5(TRPV4):c.6G>A (p.Ala2=) rs1392798743 0.00001
NM_021625.5(TRPV4):c.712+5G>A rs372251308 0.00001
NM_021625.5(TRPV4):c.713-16C>T rs777854437 0.00001
NM_021625.5(TRPV4):c.726G>C (p.Leu242=) rs1192938006 0.00001
NM_021625.5(TRPV4):c.737T>C (p.Ile246Thr) rs1200887655 0.00001
NM_021625.5(TRPV4):c.759C>T (p.Tyr253=) rs370318363 0.00001
NM_021625.5(TRPV4):c.798C>T (p.Ala266=) rs1204460941 0.00001
NM_021625.5(TRPV4):c.799C>G (p.Gln267Glu) rs1323996959 0.00001
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys) rs267607146 0.00001
NM_021625.5(TRPV4):c.811C>T (p.Arg271Cys) rs1227793261 0.00001
NM_021625.5(TRPV4):c.812G>A (p.Arg271His) rs387907219 0.00001
NM_021625.5(TRPV4):c.853+14T>C rs1226363562 0.00001
NM_021625.5(TRPV4):c.855G>T (p.Gly285=) rs879253959 0.00001
NM_021625.5(TRPV4):c.877G>A (p.Ala293Thr) rs1054889070 0.00001
NM_021625.5(TRPV4):c.904A>T (p.Asn302Tyr) rs780551685 0.00001
NM_021625.5(TRPV4):c.914C>T (p.Thr305Met) rs754582307 0.00001
NM_021625.5(TRPV4):c.915G>A (p.Thr305=) rs1565870990 0.00001
NM_021625.5(TRPV4):c.922C>T (p.Pro308Ser) rs1257302371 0.00001
NM_021625.5(TRPV4):c.935C>T (p.Ala312Val) rs751139506 0.00001
NM_021625.5(TRPV4):c.940A>G (p.Met314Val) rs151101009 0.00001
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp) rs267607143 0.00001
NC_000012.11:g.(?_110221426)_(110224662_?)dup
NC_000012.11:g.(?_110232124)_(110236727_?)del
NC_000012.11:g.(?_110252196)_(110252601_?)del
NM_021625.5(TRPV4):c.1005C>G (p.Thr335=) rs1003372246
NM_021625.5(TRPV4):c.1005C>T (p.Thr335=)
NM_021625.5(TRPV4):c.1006C>T (p.Arg336Cys) rs781229110
NM_021625.5(TRPV4):c.1008T>G (p.Arg336=)
NM_021625.5(TRPV4):c.1028C>T (p.Thr343Ile)
NM_021625.5(TRPV4):c.1039G>A (p.Asp347Asn) rs1006063188
NM_021625.5(TRPV4):c.1055A>G (p.Lys352Arg)
NM_021625.5(TRPV4):c.1058G>A (p.Cys353Tyr)
NM_021625.5(TRPV4):c.1066C>T (p.Leu356Phe)
NM_021625.5(TRPV4):c.1074C>G (p.Pro358=) rs140040335
NM_021625.5(TRPV4):c.1075G>C (p.Asp359His)
NM_021625.5(TRPV4):c.1076_1093del (p.Asp359_Ala364del) rs1592838554
NM_021625.5(TRPV4):c.1083C>T (p.Asn361=)
NM_021625.5(TRPV4):c.1084C>T (p.Leu362=)
NM_021625.5(TRPV4):c.1087G>C (p.Glu363Gln)
NM_021625.5(TRPV4):c.1087_1088delinsTT (p.Glu363Leu) rs1890576440
NM_021625.5(TRPV4):c.1093G>C (p.Val365Leu)
NM_021625.5(TRPV4):c.1105G>A (p.Asp369Asn)
NM_021625.5(TRPV4):c.1110C>A (p.Gly370=) rs2136517738
NM_021625.5(TRPV4):c.1116G>T (p.Ser372=)
NM_021625.5(TRPV4):c.1124T>C (p.Met375Thr)
NM_021625.5(TRPV4):c.1130C>T (p.Ala377Val)
NM_021625.5(TRPV4):c.1130_1152+16del rs2136516895
NM_021625.5(TRPV4):c.1133C>A (p.Ala378Asp)
NM_021625.5(TRPV4):c.1136A>G (p.Lys379Arg) rs1890568784
NM_021625.5(TRPV4):c.113A>G (p.Asn38Ser)
NM_021625.5(TRPV4):c.1140G>A (p.Thr380=)
NM_021625.5(TRPV4):c.1152+15dup rs746148872
NM_021625.5(TRPV4):c.1152+19G>A rs1428509382
NM_021625.5(TRPV4):c.1153-19C>G
NM_021625.5(TRPV4):c.1153-6G>A rs1890423456
NM_021625.5(TRPV4):c.1159C>G (p.Gln387Glu) rs1890422889
NM_021625.5(TRPV4):c.1165A>G (p.Ile389Val)
NM_021625.5(TRPV4):c.1167C>T (p.Ile389=) rs2136503803
NM_021625.5(TRPV4):c.1170C>T (p.Ile390=) rs2136503789
NM_021625.5(TRPV4):c.1172G>A (p.Arg391Gln)
NM_021625.5(TRPV4):c.1174C>G (p.Arg392Gly)
NM_021625.5(TRPV4):c.1175G>C (p.Arg392Pro) rs770364304
NM_021625.5(TRPV4):c.1191G>A (p.Glu397=)
NM_021625.5(TRPV4):c.1201C>T (p.His401Tyr)
NM_021625.5(TRPV4):c.1203C>T (p.His401=)
NM_021625.5(TRPV4):c.1205T>C (p.Leu402Pro) rs1890419368
NM_021625.5(TRPV4):c.1206G>A (p.Leu402=) rs1328179779
NM_021625.5(TRPV4):c.1206G>T (p.Leu402=) rs1328179779
NM_021625.5(TRPV4):c.1210C>T (p.Arg404Cys)
NM_021625.5(TRPV4):c.1218C>T (p.Phe406=) rs750629825
NM_021625.5(TRPV4):c.1219A>G (p.Lys407Glu) rs515726153
NM_021625.5(TRPV4):c.1233T>A (p.Tyr411Ter)
NM_021625.5(TRPV4):c.124G>T (p.Gly42Trp) rs1891750610
NM_021625.5(TRPV4):c.1251G>A (p.Ser417=) rs765427637
NM_021625.5(TRPV4):c.125G>A (p.Gly42Glu)
NM_021625.5(TRPV4):c.125G>T (p.Gly42Val)
NM_021625.5(TRPV4):c.1263C>G (p.Leu421=)
NM_021625.5(TRPV4):c.1265C>A (p.Ser422Tyr) rs1890416175
NM_021625.5(TRPV4):c.1266C>G (p.Ser422=)
NM_021625.5(TRPV4):c.1269C>T (p.Ser423=)
NM_021625.5(TRPV4):c.1273G>T (p.Asp425Tyr) rs1890415214
NM_021625.5(TRPV4):c.1278G>C (p.Thr426=)
NM_021625.5(TRPV4):c.1282G>A (p.Gly428Arg)
NM_021625.5(TRPV4):c.1283G>A (p.Gly428Glu) rs1890414210
NM_021625.5(TRPV4):c.1289A>G (p.Glu430Gly)
NM_021625.5(TRPV4):c.1291G>A (p.Ala431Thr)
NM_021625.5(TRPV4):c.1292C>T (p.Ala431Val) rs2136502657
NM_021625.5(TRPV4):c.1295C>A (p.Ser432Tyr)
NM_021625.5(TRPV4):c.1296C>T (p.Ser432=) rs1028271373
NM_021625.5(TRPV4):c.1309C>G (p.Leu437Val) rs1890412020
NM_021625.5(TRPV4):c.1314del (p.Tyr439fs)
NM_021625.5(TRPV4):c.1315T>A (p.Tyr439Asn) rs762416745
NM_021625.5(TRPV4):c.1316A>T (p.Tyr439Phe)
NM_021625.5(TRPV4):c.1332+1G>A
NM_021625.5(TRPV4):c.1333-14C>A
NM_021625.5(TRPV4):c.1333-17C>A
NM_021625.5(TRPV4):c.1333-17C>T rs766176063
NM_021625.5(TRPV4):c.1333-19A>C
NM_021625.5(TRPV4):c.1333-20dup
NM_021625.5(TRPV4):c.1333-3T>C
NM_021625.5(TRPV4):c.1333-4_1333-3del
NM_021625.5(TRPV4):c.1333A>G (p.Asn445Asp)
NM_021625.5(TRPV4):c.1336C>G (p.Arg446Gly)
NM_021625.5(TRPV4):c.1337G>A (p.Arg446His) rs143502097
NM_021625.5(TRPV4):c.1337G>C (p.Arg446Pro)
NM_021625.5(TRPV4):c.1337G>T (p.Arg446Leu) rs143502097
NM_021625.5(TRPV4):c.1344G>A (p.Glu448=)
NM_021625.5(TRPV4):c.1345A>C (p.Met449Leu)
NM_021625.5(TRPV4):c.1349T>C (p.Leu450Pro)
NM_021625.5(TRPV4):c.134G>T (p.Gly45Val)
NM_021625.5(TRPV4):c.1354G>C (p.Val452Leu)
NM_021625.5(TRPV4):c.1359G>A (p.Glu453=)
NM_021625.5(TRPV4):c.1373T>C (p.Leu458Pro)
NM_021625.5(TRPV4):c.1378C>G (p.Arg460Gly)
NM_021625.5(TRPV4):c.1385A>T (p.Lys462Met)
NM_021625.5(TRPV4):c.1391G>A (p.Arg464His) rs758206734
NM_021625.5(TRPV4):c.1391G>T (p.Arg464Leu)
NM_021625.5(TRPV4):c.1393A>G (p.Lys465Glu) rs2136484635
NM_021625.5(TRPV4):c.139C>G (p.Leu47Val)
NM_021625.5(TRPV4):c.1403C>T (p.Ala468Val)
NM_021625.5(TRPV4):c.1412_1414del (p.Phe471del) rs515726154
NM_021625.5(TRPV4):c.1416C>T (p.Tyr472=)
NM_021625.5(TRPV4):c.1421A>T (p.Asn474Ile) rs150461804
NM_021625.5(TRPV4):c.1424T>C (p.Val475Ala)
NM_021625.5(TRPV4):c.1425G>A (p.Val475=)
NM_021625.5(TRPV4):c.1431del (p.Tyr478fs)
NM_021625.5(TRPV4):c.1434C>T (p.Tyr478=) rs749421876
NM_021625.5(TRPV4):c.1439G>T (p.Cys480Phe) rs943346163
NM_021625.5(TRPV4):c.1445T>C (p.Met482Thr) rs1565866454
NM_021625.5(TRPV4):c.1450A>G (p.Ile484Val) rs1555206591
NM_021625.5(TRPV4):c.1457C>A (p.Thr486Asn) rs2136483803
NM_021625.5(TRPV4):c.1463C>T (p.Thr488Ile)
NM_021625.5(TRPV4):c.1464C>A (p.Thr488=)
NM_021625.5(TRPV4):c.1467del (p.Tyr490fs)
NM_021625.5(TRPV4):c.1473C>A (p.Tyr491Ter)
NM_021625.5(TRPV4):c.1479G>T (p.Pro493=) rs1337838267
NM_021625.5(TRPV4):c.147C>T (p.Pro49=)
NM_021625.5(TRPV4):c.1489A>C (p.Thr497Pro)
NM_021625.5(TRPV4):c.1491+10C>G rs201815805
NM_021625.5(TRPV4):c.1491+18G>A
NM_021625.5(TRPV4):c.1491+5G>A rs375360273
NM_021625.5(TRPV4):c.1491A>C (p.Thr497=)
NM_021625.5(TRPV4):c.1492-1_1494del rs2136480490
NM_021625.5(TRPV4):c.1492-20dup
NM_021625.5(TRPV4):c.1492-4C>T
NM_021625.5(TRPV4):c.1492-9G>A
NM_021625.5(TRPV4):c.1494G>A (p.Pro498=)
NM_021625.5(TRPV4):c.1497G>A (p.Pro499=)
NM_021625.5(TRPV4):c.1497G>T (p.Pro499=) rs751852169
NM_021625.5(TRPV4):c.14G>A (p.Ser5Asn)
NM_021625.5(TRPV4):c.1500C>A (p.Tyr500Ter)
NM_021625.5(TRPV4):c.1503T>C (p.Pro501=) rs2136480293
NM_021625.5(TRPV4):c.1505A>T (p.Tyr502Phe) rs1592830087
NM_021625.5(TRPV4):c.1506C>A (p.Tyr502Ter)
NM_021625.5(TRPV4):c.1513A>G (p.Thr505Ala)
NM_021625.5(TRPV4):c.1515G>C (p.Thr505=) rs1056692999
NM_021625.5(TRPV4):c.1520A>G (p.Asp507Gly)
NM_021625.5(TRPV4):c.1527dup (p.Arg510fs)
NM_021625.5(TRPV4):c.1550C>T (p.Thr517Met)
NM_021625.5(TRPV4):c.1552C>T (p.Leu518Phe) rs2136479469
NM_021625.5(TRPV4):c.1559C>A (p.Thr520Asn) rs2136479390
NM_021625.5(TRPV4):c.155C>T (p.Ala52Val)
NM_021625.5(TRPV4):c.1563G>T (p.Gly521=) rs750906932
NM_021625.5(TRPV4):c.1569G>A (p.Leu523=)
NM_021625.5(TRPV4):c.1570TTC[2] (p.Phe526del) rs1393630996
NM_021625.5(TRPV4):c.1580C>G (p.Thr527Ser)
NM_021625.5(TRPV4):c.1584+12G>A rs375908611
NM_021625.5(TRPV4):c.1584+14C>T rs1164262836
NM_021625.5(TRPV4):c.1584+15C>T
NM_021625.5(TRPV4):c.1584+17dup rs1011607708
NM_021625.5(TRPV4):c.1584+18G>C rs10850750
NM_021625.5(TRPV4):c.1584+1G>C rs775922797
NM_021625.5(TRPV4):c.1584+20G>A
NM_021625.5(TRPV4):c.1584+5G>C
NM_021625.5(TRPV4):c.1584+7G>T rs1182121596
NM_021625.5(TRPV4):c.1585-12C>T
NM_021625.5(TRPV4):c.1585-14dup
NM_021625.5(TRPV4):c.1585-1G>A
NM_021625.5(TRPV4):c.1590A>C (p.Lys530Asn)
NM_021625.5(TRPV4):c.1594T>C (p.Leu532=)
NM_021625.5(TRPV4):c.1601T>A (p.Met534Lys) rs775011025
NM_021625.5(TRPV4):c.1611C>T (p.Cys537=) rs1407714132
NM_021625.5(TRPV4):c.1615G>A (p.Gly539Arg)
NM_021625.5(TRPV4):c.1616G>T (p.Gly539Val)
NM_021625.5(TRPV4):c.161C>G (p.Ala54Gly) rs753813565
NM_021625.5(TRPV4):c.1624T>C (p.Ser542Pro)
NM_021625.5(TRPV4):c.1625C>A (p.Ser542Tyr) rs387906902
NM_021625.5(TRPV4):c.1625C>G (p.Ser542Cys) rs387906902
NM_021625.5(TRPV4):c.1627C>G (p.Leu543Val)
NM_021625.5(TRPV4):c.1627C>T (p.Leu543Phe) rs779325064
NM_021625.5(TRPV4):c.1633A>T (p.Ile545Phe)
NM_021625.5(TRPV4):c.1636G>A (p.Asp546Asn)
NM_021625.5(TRPV4):c.1639G>T (p.Gly547Cys)
NM_021625.5(TRPV4):c.1642T>C (p.Ser548Pro) rs2136474950
NM_021625.5(TRPV4):c.1658+15_1658+21del
NM_021625.5(TRPV4):c.1658+16T>C
NM_021625.5(TRPV4):c.1658+1G>A
NM_021625.5(TRPV4):c.1658+20C>G
NM_021625.5(TRPV4):c.1658+7A>G rs1890172061
NM_021625.5(TRPV4):c.1659-19G>A
NM_021625.5(TRPV4):c.1659-1G>A
NM_021625.5(TRPV4):c.1659-7A>G
NM_021625.5(TRPV4):c.1675_1698del (p.Leu559_Leu566del) rs1890129676
NM_021625.5(TRPV4):c.1678del (p.Leu559_Val560insTer)
NM_021625.5(TRPV4):c.167G>A (p.Arg56His) rs767169716
NM_021625.5(TRPV4):c.167G>T (p.Arg56Leu) rs767169716
NM_021625.5(TRPV4):c.1689A>G (p.Ser563=) rs2136469436
NM_021625.5(TRPV4):c.1695C>T (p.Ala565=)
NM_021625.5(TRPV4):c.1696C>T (p.Leu566Phe) rs144583941
NM_021625.5(TRPV4):c.1698C>G (p.Leu566=) rs753509572
NM_021625.5(TRPV4):c.1706C>G (p.Ala569Gly) rs1565864489
NM_021625.5(TRPV4):c.1713C>T (p.Ile571=) rs185933892
NM_021625.5(TRPV4):c.1714G>A (p.Glu572Lys) rs1312427314
NM_021625.5(TRPV4):c.1714G>C (p.Glu572Gln) rs1312427314
NM_021625.5(TRPV4):c.1731G>T (p.Val577=) rs1592827611
NM_021625.5(TRPV4):c.1741G>A (p.Ala581Thr)
NM_021625.5(TRPV4):c.1746G>C (p.Leu582=) rs1165773272
NM_021625.5(TRPV4):c.174T>C (p.Ala58=) rs774161754
NM_021625.5(TRPV4):c.1773C>T (p.Tyr591=) rs1890123640
NM_021625.5(TRPV4):c.1778C>G (p.Thr593Ser)
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His) rs77975504
NM_021625.5(TRPV4):c.1782_1783del (p.Gly595fs) rs1252509184
NM_021625.5(TRPV4):c.1784G>T (p.Gly595Val) rs2136468285
NM_021625.5(TRPV4):c.1796C>G (p.Thr599Arg) rs769225216
NM_021625.5(TRPV4):c.1797G>A (p.Thr599=)
NM_021625.5(TRPV4):c.1799G>A (p.Gly600Glu) rs2136468103
NM_021625.5(TRPV4):c.179C>G (p.Pro60Arg) rs763266931
NM_021625.5(TRPV4):c.180A>G (p.Pro60=)
NM_021625.5(TRPV4):c.1824+17C>A rs1890119108
NM_021625.5(TRPV4):c.1824+17C>T
NM_021625.5(TRPV4):c.1824+1G>A rs758491211
NM_021625.5(TRPV4):c.1825-10G>A
NM_021625.5(TRPV4):c.1825-14G>T
NM_021625.5(TRPV4):c.1825-15C>G rs200602134
NM_021625.5(TRPV4):c.1825-15C>T rs200602134
NM_021625.5(TRPV4):c.1825-5T>C
NM_021625.5(TRPV4):c.1825-8G>A rs1565864062
NM_021625.5(TRPV4):c.1825A>C (p.Ile609Leu) rs2136466571
NM_021625.5(TRPV4):c.1828C>T (p.Leu610Phe) rs2136466528
NM_021625.5(TRPV4):c.1840C>A (p.Leu614Ile)
NM_021625.5(TRPV4):c.1847G>A (p.Arg616Gln) rs121912632
NM_021625.5(TRPV4):c.1849T>C (p.Phe617Leu) rs2136466291
NM_021625.5(TRPV4):c.1851C>A (p.Phe617Leu) rs515726162
NM_021625.5(TRPV4):c.1857C>A (p.Leu619=)
NM_021625.5(TRPV4):c.1858G>A (p.Val620Ile) rs121912633
NM_021625.5(TRPV4):c.1858G>T (p.Val620Phe)
NM_021625.5(TRPV4):c.1867del (p.Leu623fs) rs1890102629
NM_021625.5(TRPV4):c.1869C>T (p.Leu623=) rs1890102256
NM_021625.5(TRPV4):c.1874T>C (p.Met625Thr)
NM_021625.5(TRPV4):c.1878C>G (p.Ile626Met)
NM_021625.5(TRPV4):c.1878C>T (p.Ile626=) rs758026363
NM_021625.5(TRPV4):c.1879G>A (p.Gly627Ser) rs998369017
NM_021625.5(TRPV4):c.1891+13T>G
NM_021625.5(TRPV4):c.1891+7T>C
NM_021625.5(TRPV4):c.1892-10C>T
NM_021625.5(TRPV4):c.1892-12A>G
NM_021625.5(TRPV4):c.1892-13T>A
NM_021625.5(TRPV4):c.1893C>T (p.Ala631=)
NM_021625.5(TRPV4):c.1907T>A (p.Leu636Gln)
NM_021625.5(TRPV4):c.1907T>C (p.Leu636Pro)
NM_021625.5(TRPV4):c.1919C>T (p.Ala640Val)
NM_021625.5(TRPV4):c.1924A>G (p.Met642Val)
NM_021625.5(TRPV4):c.1924A>T (p.Met642Leu) rs1411091303
NM_021625.5(TRPV4):c.1925T>A (p.Met642Lys) rs1368161455
NM_021625.5(TRPV4):c.1932G>A (p.Val644=)
NM_021625.5(TRPV4):c.1935C>T (p.Cys645=)
NM_021625.5(TRPV4):c.1941G>A (p.Glu647=)
NM_021625.5(TRPV4):c.1949C>A (p.Thr650Asn) rs1249629161
NM_021625.5(TRPV4):c.1952A>C (p.Asn651Thr)
NM_021625.5(TRPV4):c.1957A>C (p.Thr653Pro) rs769927678
NM_021625.5(TRPV4):c.1957A>G (p.Thr653Ala) rs769927678
NM_021625.5(TRPV4):c.195A>G (p.Pro65=) rs1891742510
NM_021625.5(TRPV4):c.1963C>G (p.Pro655Ala)
NM_021625.5(TRPV4):c.1968T>G (p.Thr656=)
NM_021625.5(TRPV4):c.1971C>A (p.Tyr657Ter) rs1951172791
NM_021625.5(TRPV4):c.1972C>A (p.Pro658Thr)
NM_021625.5(TRPV4):c.1987A>G (p.Ser663Gly) rs1889846400
NM_021625.5(TRPV4):c.1989C>G (p.Ser663Arg) rs778560334
NM_021625.5(TRPV4):c.1993A>G (p.Thr665Ala)
NM_021625.5(TRPV4):c.2000G>A (p.Ser667Asn) rs756867557
NM_021625.5(TRPV4):c.2000G>C (p.Ser667Thr)
NM_021625.5(TRPV4):c.2007C>T (p.Phe669=)
NM_021625.5(TRPV4):c.2008C>T (p.Leu670Phe)
NM_021625.5(TRPV4):c.203G>A (p.Arg68His) rs747215384
NM_021625.5(TRPV4):c.203G>T (p.Arg68Leu) rs747215384
NM_021625.5(TRPV4):c.2044G>A (p.Asp682Asn) rs968378720
NM_021625.5(TRPV4):c.2045A>G (p.Asp682Gly)
NM_021625.5(TRPV4):c.2053A>G (p.Met685Val)
NM_021625.5(TRPV4):c.2073C>T (p.Tyr691=) rs2136441439
NM_021625.5(TRPV4):c.2091C>T (p.Ile697=) rs2136441311
NM_021625.5(TRPV4):c.2117C>A (p.Thr706Asn) rs1889838365
NM_021625.5(TRPV4):c.2130C>A (p.Leu710=) rs755736749
NM_021625.5(TRPV4):c.2133C>A (p.Leu711=)
NM_021625.5(TRPV4):c.213C>G (p.Phe71Leu)
NM_021625.5(TRPV4):c.2146G>T (p.Ala716Ser) rs121912635
NM_021625.5(TRPV4):c.2151C>A (p.Leu717=) rs1555205372
NM_021625.5(TRPV4):c.2163A>G (p.Thr721=)
NM_021625.5(TRPV4):c.2169C>T (p.Gly723=)
NM_021625.5(TRPV4):c.2184G>A (p.Glu728=) rs2136440447
NM_021625.5(TRPV4):c.2184G>C (p.Glu728Asp) rs2136440447
NM_021625.5(TRPV4):c.2187C>A (p.Ser729Arg) rs1889832143
NM_021625.5(TRPV4):c.2192A>G (p.His731Arg) rs1463500359
NM_021625.5(TRPV4):c.21C>T (p.Gly7=)
NM_021625.5(TRPV4):c.2208+14G>A
NM_021625.5(TRPV4):c.2208+14G>T rs770836806
NM_021625.5(TRPV4):c.2208+19del rs1410930643
NM_021625.5(TRPV4):c.2208+7C>G rs1218317076
NM_021625.5(TRPV4):c.2209-13_2209-5dup
NM_021625.5(TRPV4):c.2209-15C>T
NM_021625.5(TRPV4):c.2209-8C>G rs1003284993
NM_021625.5(TRPV4):c.2209-8C>T
NM_021625.5(TRPV4):c.2209T>C (p.Trp737Arg)
NM_021625.5(TRPV4):c.2209T>G (p.Trp737Gly)
NM_021625.5(TRPV4):c.220G>A (p.Ala74Thr)
NM_021625.5(TRPV4):c.2211G>C (p.Trp737Cys) rs1035249096
NM_021625.5(TRPV4):c.2213C>T (p.Ala738Val)
NM_021625.5(TRPV4):c.2217C>G (p.Thr739=) rs2136431717
NM_021625.5(TRPV4):c.223T>C (p.Phe75Leu)
NM_021625.5(TRPV4):c.2240C>T (p.Ser747Phe)
NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_021625.5(TRPV4):c.2251T>C (p.Phe751Leu) rs1889714537
NM_021625.5(TRPV4):c.2255T>C (p.Leu752Pro)
NM_021625.5(TRPV4):c.2264C>T (p.Ala755Val) rs746363121
NM_021625.5(TRPV4):c.2271del (p.Ser758fs) rs1889712036
NM_021625.5(TRPV4):c.2273C>G (p.Ser758Cys) rs778014423
NM_021625.5(TRPV4):c.227G>A (p.Arg76His)
NM_021625.5(TRPV4):c.228C>T (p.Arg76=)
NM_021625.5(TRPV4):c.2290G>A (p.Val764Met) rs750416252
NM_021625.5(TRPV4):c.2290G>T (p.Val764Leu) rs750416252
NM_021625.5(TRPV4):c.2294G>A (p.Gly765Asp)
NM_021625.5(TRPV4):c.229A>G (p.Lys77Glu) rs1565883324
NM_021625.5(TRPV4):c.2301C>T (p.Ser767=)
NM_021625.5(TRPV4):c.2303C>T (p.Ser768Leu)
NM_021625.5(TRPV4):c.2304G>A (p.Ser768=) rs138986228
NM_021625.5(TRPV4):c.2308G>A (p.Gly770Ser)
NM_021625.5(TRPV4):c.2311A>C (p.Thr771Pro)
NM_021625.5(TRPV4):c.2313T>A (p.Thr771=)
NM_021625.5(TRPV4):c.2315C>T (p.Pro772Leu) rs1889708727
NM_021625.5(TRPV4):c.2321G>A (p.Arg774His)
NM_021625.5(TRPV4):c.2325G>A (p.Arg775=)
NM_021625.5(TRPV4):c.2334C>T (p.Phe778=)
NM_021625.5(TRPV4):c.2336+16T>G
NM_021625.5(TRPV4):c.2336+18G>A
NM_021625.5(TRPV4):c.2336+7C>T
NM_021625.5(TRPV4):c.2336+8T>C
NM_021625.5(TRPV4):c.2337-13T>A
NM_021625.5(TRPV4):c.2337-15C>T
NM_021625.5(TRPV4):c.2337-16G>A rs373195035
NM_021625.5(TRPV4):c.2337-6T>C
NM_021625.5(TRPV4):c.2338G>A (p.Val780Met)
NM_021625.5(TRPV4):c.2338G>T (p.Val780Leu)
NM_021625.5(TRPV4):c.2354G>C (p.Trp785Ser)
NM_021625.5(TRPV4):c.2361C>T (p.His787=) rs1889550403
NM_021625.5(TRPV4):c.2378G>A (p.Gly793Asp) rs1451788224
NM_021625.5(TRPV4):c.237G>A (p.Val79=) rs2136660284
NM_021625.5(TRPV4):c.2385C>T (p.Ile795=) rs770434546
NM_021625.5(TRPV4):c.2386_2388del (p.Asn796del) rs1889549195
NM_021625.5(TRPV4):c.2389G>A (p.Glu797Lys) rs267607149
NM_021625.5(TRPV4):c.238C>T (p.Pro80Ser)
NM_021625.5(TRPV4):c.2395C>A (p.Pro799Thr) rs267607147
NM_021625.5(TRPV4):c.2396C>A (p.Pro799Gln)
NM_021625.5(TRPV4):c.2396C>G (p.Pro799Arg) rs121912637
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu) rs121912637
NM_021625.5(TRPV4):c.2397G>A (p.Pro799=) rs141301107
NM_021625.5(TRPV4):c.239C>T (p.Pro80Leu) rs2136660243
NM_021625.5(TRPV4):c.2401A>C (p.Lys801Gln)
NM_021625.5(TRPV4):c.2415C>T (p.Tyr805=)
NM_021625.5(TRPV4):c.2418G>A (p.Gln806=) rs1157330201
NM_021625.5(TRPV4):c.2421T>C (p.Tyr807=) rs2136417346
NM_021625.5(TRPV4):c.2426G>A (p.Gly809Asp) rs2136417276
NM_021625.5(TRPV4):c.242A>G (p.Asn81Ser) rs2136660218
NM_021625.5(TRPV4):c.2433G>A (p.Ser811=) rs34071623
NM_021625.5(TRPV4):c.243C>G (p.Asn81Lys)
NM_021625.5(TRPV4):c.2446C>G (p.Arg816Gly) rs748742151
NM_021625.5(TRPV4):c.244C>T (p.Pro82Ser)
NM_021625.5(TRPV4):c.2456G>A (p.Arg819Lys) rs1565857540
NM_021625.5(TRPV4):c.2457G>A (p.Arg819=)
NM_021625.5(TRPV4):c.2458+15G>A
NM_021625.5(TRPV4):c.2458+15G>T rs372913114
NM_021625.5(TRPV4):c.2458+17G>A
NM_021625.5(TRPV4):c.2458+4A>C rs2136416943
NM_021625.5(TRPV4):c.2458+7G>A
NM_021625.5(TRPV4):c.2459-10C>T
NM_021625.5(TRPV4):c.2459-11T>C
NM_021625.5(TRPV4):c.2459-20C>G
NM_021625.5(TRPV4):c.2459-5T>C
NM_021625.5(TRPV4):c.2459-7G>A
NM_021625.5(TRPV4):c.245C>G (p.Pro82Arg) rs767079858
NM_021625.5(TRPV4):c.2461C>T (p.Arg821Cys)
NM_021625.5(TRPV4):c.2470T>A (p.Ser824Thr)
NM_021625.5(TRPV4):c.2473G>C (p.Val825Leu) rs1889497846
NM_021625.5(TRPV4):c.247A>G (p.Ile83Val)
NM_021625.5(TRPV4):c.2480C>A (p.Pro827His) rs2136413100
NM_021625.5(TRPV4):c.2481C>T (p.Pro827=) rs775524996
NM_021625.5(TRPV4):c.2482C>A (p.Arg828Ser) rs1467984181
NM_021625.5(TRPV4):c.2482C>T (p.Arg828Cys)
NM_021625.5(TRPV4):c.2485G>C (p.Val829Leu)
NM_021625.5(TRPV4):c.2489T>C (p.Val830Ala) rs1565856891
NM_021625.5(TRPV4):c.2494C>A (p.Leu832Met)
NM_021625.5(TRPV4):c.2495T>G (p.Leu832Arg) rs1565856842
NM_021625.5(TRPV4):c.2496G>C (p.Leu832=) rs374298483
NM_021625.5(TRPV4):c.249C>T (p.Ile83=)
NM_021625.5(TRPV4):c.2508G>T (p.Ser836=)
NM_021625.5(TRPV4):c.250G>A (p.Asp84Asn) rs908406423
NM_021625.5(TRPV4):c.2512C>T (p.Pro838Ser)
NM_021625.5(TRPV4):c.2513_2533del (p.Pro838_Pro844del)
NM_021625.5(TRPV4):c.2521G>A (p.Val841Met) rs1592812166
NM_021625.5(TRPV4):c.2523G>A (p.Val841=)
NM_021625.5(TRPV4):c.2524G>T (p.Val842Leu)
NM_021625.5(TRPV4):c.2526G>A (p.Val842=)
NM_021625.5(TRPV4):c.2530C>A (p.Pro844Thr) rs2136412583
NM_021625.5(TRPV4):c.2550C>A (p.Asn850Lys) rs571407723
NM_021625.5(TRPV4):c.2557_2586del (p.Cys853_Arg862del) rs1555204381
NM_021625.5(TRPV4):c.255G>A (p.Leu85=) rs2136659978
NM_021625.5(TRPV4):c.2560G>C (p.Asp854His) rs368963822
NM_021625.5(TRPV4):c.2564G>C (p.Gly855Ala)
NM_021625.5(TRPV4):c.2568C>T (p.His856=) rs2136412290
NM_021625.5(TRPV4):c.256C>T (p.Leu86=)
NM_021625.5(TRPV4):c.2570A>G (p.Gln857Arg) rs1262126429
NM_021625.5(TRPV4):c.2575G>T (p.Gly859Cys)
NM_021625.5(TRPV4):c.2581C>T (p.Pro861Ser) rs561101128
NM_021625.5(TRPV4):c.2584del (p.Arg862fs) rs746597270
NM_021625.5(TRPV4):c.2592G>T (p.Trp864Cys) rs966904634
NM_021625.5(TRPV4):c.2595del (p.Thr866fs)
NM_021625.5(TRPV4):c.2598T>G (p.Thr866=)
NM_021625.5(TRPV4):c.25C>G (p.Arg9Gly)
NM_021625.5(TRPV4):c.2605G>T (p.Ala869Ser) rs138396764
NM_021625.5(TRPV4):c.268C>T (p.Leu90=) rs2136659904
NM_021625.5(TRPV4):c.270A>G (p.Leu90=)
NM_021625.5(TRPV4):c.27C>T (p.Arg9=)
NM_021625.5(TRPV4):c.282G>A (p.Ser94=)
NM_021625.5(TRPV4):c.283G>A (p.Val95Met) rs1891735247
NM_021625.5(TRPV4):c.286G>T (p.Val96Leu)
NM_021625.5(TRPV4):c.288G>T (p.Val96=) rs1456271134
NM_021625.5(TRPV4):c.28G>A (p.Ala10Thr)
NM_021625.5(TRPV4):c.30G>A (p.Ala10=)
NM_021625.5(TRPV4):c.313G>A (p.Asp105Asn)
NM_021625.5(TRPV4):c.313G>T (p.Asp105Tyr) rs2136659447
NM_021625.5(TRPV4):c.317C>A (p.Ser106Ter)
NM_021625.5(TRPV4):c.326A>G (p.Asp109Gly) rs1131691532
NM_021625.5(TRPV4):c.336C>A (p.Thr112=) rs969086736
NM_021625.5(TRPV4):c.34C>A (p.Pro12Thr)
NM_021625.5(TRPV4):c.34C>T (p.Pro12Ser) rs1416476726
NM_021625.5(TRPV4):c.351C>T (p.Ser117=)
NM_021625.5(TRPV4):c.352dup (p.Ser118fs)
NM_021625.5(TRPV4):c.357CAA[1] (p.Asn120del)
NM_021625.5(TRPV4):c.371G>A (p.Arg124Lys)
NM_021625.5(TRPV4):c.373A>G (p.Lys125Glu) rs1421114267
NM_021625.5(TRPV4):c.374AGA[1] (p.Lys126del)
NM_021625.5(TRPV4):c.379A>T (p.Ile127Phe) rs1367833016
NM_021625.5(TRPV4):c.37G>A (p.Gly13Arg) rs763302555
NM_021625.5(TRPV4):c.37G>C (p.Gly13Arg) rs763302555
NM_021625.5(TRPV4):c.386+15C>G
NM_021625.5(TRPV4):c.386+9T>C rs2136658499
NM_021625.5(TRPV4):c.389A>T (p.Lys130Met) rs1891283509
NM_021625.5(TRPV4):c.396G>A (p.Pro132=) rs114101785
NM_021625.5(TRPV4):c.396G>T (p.Pro132=) rs114101785
NM_021625.5(TRPV4):c.402C>T (p.Ser134=)
NM_021625.5(TRPV4):c.404C>T (p.Pro135Leu)
NM_021625.5(TRPV4):c.413C>A (p.Pro138His)
NM_021625.5(TRPV4):c.417C>T (p.Ala139=)
NM_021625.5(TRPV4):c.41A>T (p.Glu14Val)
NM_021625.5(TRPV4):c.421C>G (p.Gln141Glu)
NM_021625.5(TRPV4):c.422A>G (p.Gln141Arg)
NM_021625.5(TRPV4):c.427C>A (p.Pro143Thr) rs201642486
NM_021625.5(TRPV4):c.427C>T (p.Pro143Ser) rs201642486
NM_021625.5(TRPV4):c.432C>T (p.Pro144=) rs1287007133
NM_021625.5(TRPV4):c.435C>T (p.Ile145=)
NM_021625.5(TRPV4):c.439A>T (p.Lys147Ter) rs1032750471
NM_021625.5(TRPV4):c.43G>A (p.Val15Met)
NM_021625.5(TRPV4):c.446T>A (p.Phe149Tyr)
NM_021625.5(TRPV4):c.449A>T (p.Asn150Ile) rs1376333910
NM_021625.5(TRPV4):c.450C>T (p.Asn150=) rs2136608535
NM_021625.5(TRPV4):c.451C>T (p.Arg151Trp)
NM_021625.5(TRPV4):c.452G>A (p.Arg151Gln)
NM_021625.5(TRPV4):c.469A>G (p.Ile157Val)
NM_021625.5(TRPV4):c.471C>T (p.Ile157=)
NM_021625.5(TRPV4):c.478del (p.Arg160fs) rs1064796238
NM_021625.5(TRPV4):c.495C>T (p.Asp165=)
NM_021625.5(TRPV4):c.500A>T (p.Asp167Val)
NM_021625.5(TRPV4):c.508C>T (p.Leu170Phe) rs2136607765
NM_021625.5(TRPV4):c.511C>T (p.Pro171Ser) rs2136607717
NM_021625.5(TRPV4):c.512C>T (p.Pro171Leu)
NM_021625.5(TRPV4):c.513A>G (p.Pro171=)
NM_021625.5(TRPV4):c.515T>A (p.Phe172Tyr)
NM_021625.5(TRPV4):c.51G>A (p.Glu17=)
NM_021625.5(TRPV4):c.524C>A (p.Thr175Asn)
NM_021625.5(TRPV4):c.528C>T (p.His176=)
NM_021625.5(TRPV4):c.547G>A (p.Glu183Lys) rs387906324
NM_021625.5(TRPV4):c.548A>T (p.Glu183Val) rs2136607376
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.5(TRPV4):c.559+10C>A
NM_021625.5(TRPV4):c.559+3G>T
NM_021625.5(TRPV4):c.560-18G>C
NM_021625.5(TRPV4):c.560-8C>G
NM_021625.5(TRPV4):c.570G>A (p.Thr190=)
NM_021625.5(TRPV4):c.573dup (p.Lys192fs) rs1890915679
NM_021625.5(TRPV4):c.581G>A (p.Cys194Tyr) rs1890914888
NM_021625.5(TRPV4):c.590A>G (p.Lys197Arg) rs387906903
NM_021625.5(TRPV4):c.592G>A (p.Ala198Thr) rs761966856
NM_021625.5(TRPV4):c.592G>T (p.Ala198Ser)
NM_021625.5(TRPV4):c.594C>G (p.Ala198=) rs1890913966
NM_021625.5(TRPV4):c.5C>T (p.Ala2Val)
NM_021625.5(TRPV4):c.602A>G (p.Asn201Ser) rs1555208698
NM_021625.5(TRPV4):c.603C>T (p.Asn201=)
NM_021625.5(TRPV4):c.604C>G (p.Leu202Val) rs1890913335
NM_021625.5(TRPV4):c.606G>T (p.Leu202=)
NM_021625.5(TRPV4):c.617G>A (p.Arg206His) rs373108373
NM_021625.5(TRPV4):c.617G>T (p.Arg206Leu) rs373108373
NM_021625.5(TRPV4):c.61G>A (p.Asp21Asn)
NM_021625.5(TRPV4):c.621C>G (p.Asn207Lys)
NM_021625.5(TRPV4):c.634G>A (p.Val212Met)
NM_021625.5(TRPV4):c.648C>G (p.Ile216Met)
NM_021625.5(TRPV4):c.649G>A (p.Ala217Thr) rs187864727
NM_021625.5(TRPV4):c.657C>T (p.Arg219=)
NM_021625.5(TRPV4):c.662G>A (p.Gly221Asp)
NM_021625.5(TRPV4):c.670_671delinsCA (p.Arg224Gln) rs1555208643
NM_021625.5(TRPV4):c.672G>A (p.Arg224=)
NM_021625.5(TRPV4):c.673del (p.Glu225fs) rs1191019525
NM_021625.5(TRPV4):c.675G>A (p.Glu225=)
NM_021625.5(TRPV4):c.687G>C (p.Ser229=) rs545660001
NM_021625.5(TRPV4):c.689C>T (p.Pro230Leu) rs1890901106
NM_021625.5(TRPV4):c.694C>T (p.Arg232Cys) rs387906904
NM_021625.5(TRPV4):c.695G>C (p.Arg232Pro) rs769107613
NM_021625.5(TRPV4):c.701T>C (p.Ile234Thr) rs1555208627
NM_021625.5(TRPV4):c.706T>C (p.Tyr236His)
NM_021625.5(TRPV4):c.709C>G (p.Arg237Gly) rs746368269
NM_021625.5(TRPV4):c.710G>T (p.Arg237Leu) rs1289139464
NM_021625.5(TRPV4):c.712+11G>A
NM_021625.5(TRPV4):c.712+14C>T
NM_021625.5(TRPV4):c.713-2dup rs760776284
NM_021625.5(TRPV4):c.713-7C>G rs1890730627
NM_021625.5(TRPV4):c.718A>T (p.Thr240Ser)
NM_021625.5(TRPV4):c.719C>T (p.Thr240Ile) rs750340562
NM_021625.5(TRPV4):c.728A>G (p.His243Arg)
NM_021625.5(TRPV4):c.733G>A (p.Ala245Thr) rs761829753
NM_021625.5(TRPV4):c.733G>T (p.Ala245Ser)
NM_021625.5(TRPV4):c.736A>G (p.Ile246Val)
NM_021625.5(TRPV4):c.740_741del (p.Glu247fs)
NM_021625.5(TRPV4):c.749G>A (p.Cys250Tyr) rs937032628
NM_021625.5(TRPV4):c.751A>C (p.Lys251Gln)
NM_021625.5(TRPV4):c.752A>G (p.Lys251Arg) rs1890725320
NM_021625.5(TRPV4):c.756C>T (p.His252=)
NM_021625.5(TRPV4):c.757T>C (p.Tyr253His) rs973315587
NM_021625.5(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021625.5(TRPV4):c.760G>C (p.Val254Leu) rs143548402
NM_021625.5(TRPV4):c.761_763del (p.Val254del) rs1890724382
NM_021625.5(TRPV4):c.762G>A (p.Val254=) rs2136537855
NM_021625.5(TRPV4):c.772G>A (p.Val258Met)
NM_021625.5(TRPV4):c.781G>A (p.Gly261Arg)
NM_021625.5(TRPV4):c.789_790inv (p.Val264Ile)
NM_021625.5(TRPV4):c.792C>A (p.Val264=) rs867185488
NM_021625.5(TRPV4):c.796G>A (p.Ala266Thr) rs752366465
NM_021625.5(TRPV4):c.797C>A (p.Ala266Asp)
NM_021625.5(TRPV4):c.797C>G (p.Ala266Gly)
NM_021625.5(TRPV4):c.797C>T (p.Ala266Val) rs1890720450
NM_021625.5(TRPV4):c.799C>T (p.Gln267Ter)
NM_021625.5(TRPV4):c.79G>A (p.Gly27Ser)
NM_021625.5(TRPV4):c.805C>A (p.Arg269Ser) rs267607146
NM_021625.5(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021625.5(TRPV4):c.80G>A (p.Gly27Asp)
NM_021625.5(TRPV4):c.820C>T (p.Gln274Ter) rs1592842140
NM_021625.5(TRPV4):c.827A>C (p.Lys276Thr) rs1592842115
NM_021625.5(TRPV4):c.82G>C (p.Gly28Arg)
NM_021625.5(TRPV4):c.832G>A (p.Glu278Lys) rs267607148
NM_021625.5(TRPV4):c.834G>T (p.Glu278Asp) rs529115496
NM_021625.5(TRPV4):c.838G>A (p.Gly280Ser) rs763354006
NM_021625.5(TRPV4):c.842A>C (p.Tyr281Ser) rs1555208063
NM_021625.5(TRPV4):c.845dup (p.Tyr283fs)
NM_021625.5(TRPV4):c.853+12C>T
NM_021625.5(TRPV4):c.853+17T>G
NM_021625.5(TRPV4):c.853+5G>A
NM_021625.5(TRPV4):c.854-20C>T
NM_021625.5(TRPV4):c.858G>A (p.Glu286=) rs1397584157
NM_021625.5(TRPV4):c.872T>C (p.Leu291Pro)
NM_021625.5(TRPV4):c.880T>G (p.Cys294Gly)
NM_021625.5(TRPV4):c.88G>A (p.Ala30Thr)
NM_021625.5(TRPV4):c.895dup (p.His299fs)
NM_021625.5(TRPV4):c.897C>T (p.His299=)
NM_021625.5(TRPV4):c.8A>G (p.Asp3Gly)
NM_021625.5(TRPV4):c.901G>T (p.Val301Phe)
NM_021625.5(TRPV4):c.903C>G (p.Val301=) rs748103823
NM_021625.5(TRPV4):c.910C>T (p.Leu304=)
NM_021625.5(TRPV4):c.913A>C (p.Thr305Pro)
NM_021625.5(TRPV4):c.915G>C (p.Thr305=) rs1565870990
NM_021625.5(TRPV4):c.921C>T (p.Asn307=) rs1259756946
NM_021625.5(TRPV4):c.923C>T (p.Pro308Leu)
NM_021625.5(TRPV4):c.925C>T (p.His309Tyr) rs1184985507
NM_021625.5(TRPV4):c.928A>G (p.Lys310Glu)
NM_021625.5(TRPV4):c.942G>A (p.Met314Ile)
NM_021625.5(TRPV4):c.943C>G (p.Arg315Gly) rs267607143
NM_021625.5(TRPV4):c.944G>A (p.Arg315Gln) rs1064795696
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys) rs267607145
NM_021625.5(TRPV4):c.947G>A (p.Arg316His) rs387906905
NM_021625.5(TRPV4):c.947G>T (p.Arg316Leu) rs387906905
NM_021625.5(TRPV4):c.949del (p.Gln317fs)
NM_021625.5(TRPV4):c.957G>A (p.Ser319=) rs116698155
NM_021625.5(TRPV4):c.957G>C (p.Ser319=) rs116698155
NM_021625.5(TRPV4):c.957G>T (p.Ser319=)
NM_021625.5(TRPV4):c.962G>T (p.Gly321Val)
NM_021625.5(TRPV4):c.966C>T (p.Asn322=) rs1592838926
NM_021625.5(TRPV4):c.969A>C (p.Thr323=)
NM_021625.5(TRPV4):c.973C>T (p.Leu325=)
NM_021625.5(TRPV4):c.978T>A (p.His326Gln) rs1890587000
NM_021625.5(TRPV4):c.980C>T (p.Ala327Val) rs1179420073
NM_021625.5(TRPV4):c.985G>A (p.Val329Met) rs2136519623
NM_021625.5(TRPV4):c.997G>T (p.Asp333Tyr) rs2136519490

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.