ClinVar Miner

List of variants studied for motor peripheral neuropathy

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1696
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HGVS dbSNP gnomAD frequency
NM_001358263.1(HK1):c.75+5174A>G rs906220 0.89921
NM_000188.3(HK1):c.1443G>A (p.Lys481=) rs748235 0.80224
NM_014874.4(MFN2):c.*58A>G rs1042842 0.71104
NM_000188.3(HK1):c.1839+31G>A rs749105 0.70672
NM_006070.6(TFG):c.846T>C (p.Pro282=) rs11353 0.66628
NM_021625.5(TRPV4):c.670A>C (p.Arg224=) rs3825394 0.60669
NM_000188.3(HK1):c.2219+27T>C rs2278745 0.56586
NM_014874.4(MFN2):c.*896G>C rs3088064 0.55119
NM_014874.3(MFN2):c.-212T>C rs2180183 0.53102
NM_014874.3(MFN2):c.-367A>G rs2236054 0.52635
NM_000188.3(HK1):c.78C>G (p.Leu26=) rs1133189 0.36523
NM_138773.4(SLC25A46):c.714G>A (p.Glu238=) rs7724788 0.18468
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_014874.4(MFN2):c.2204+15T>C rs77262016 0.07571
NM_138773.4(SLC25A46):c.346T>C (p.Leu116=) rs17446534 0.06929
NM_014874.4(MFN2):c.*1488C>T rs11554507 0.05161
NM_014874.4(MFN2):c.*912C>T rs14305 0.04860
NM_014874.4(MFN2):c.1569C>T (p.Ser523=) rs1042837 0.04459
NM_014874.4(MFN2):c.*1100A>G rs41278638 0.04352
NM_138773.4(SLC25A46):c.384+12T>G rs7736017 0.03764
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_138773.4(SLC25A46):c.1137G>T (p.Glu379Asp) rs79149180 0.03322
NM_138773.4(SLC25A46):c.429C>T (p.Val143=) rs35220834 0.03257
NM_006070.6(TFG):c.722-8G>T rs41272979 0.02999
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_014874.4(MFN2):c.-149-15T>G rs114306601 0.02587
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_138773.4(SLC25A46):c.147C>T (p.Ile49=) rs145421520 0.02520
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_014874.4(MFN2):c.*1161C>A rs115706485 0.02302
NM_014874.4(MFN2):c.159C>T (p.Ser53=) rs61733200 0.02240
NM_014874.4(MFN2):c.*1576C>T rs78523898 0.02185
NM_014874.4(MFN2):c.*730C>T rs112550280 0.02163
NM_006070.6(TFG):c.416-9T>C rs115896544 0.01708
NM_000188.3(HK1):c.1031+6T>C rs57012387 0.01704
NM_014874.4(MFN2):c.*231G>A rs41278636 0.01666
NM_021625.5(TRPV4):c.387-4C>T rs12305439 0.01630
NM_014874.4(MFN2):c.*777T>C rs112854268 0.01628
NM_014874.3(MFN2):c.-249T>A rs2180182 0.01549
NM_014874.3(MFN2):c.-287C>T rs2180181 0.01549
NM_006070.6(TFG):c.945G>A (p.Pro315=) rs61736338 0.01477
NM_014874.4(MFN2):c.2205-13C>A rs76020240 0.01362
NM_138773.4(SLC25A46):c.563+6A>T rs114546039 0.01313
NM_006070.6(TFG):c.552G>A (p.Ala184=) rs35648279 0.01123
NM_021625.5(TRPV4):c.33G>T (p.Gly11=) rs56092423 0.00939
NM_014874.4(MFN2):c.*304A>G rs80118679 0.00841
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_014874.4(MFN2):c.957C>T (p.Gly319=) rs41278632 0.00690
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_014874.4(MFN2):c.2113G>A (p.Val705Ile) rs142271930 0.00621
NM_006070.6(TFG):c.663C>A (p.Gly221=) rs140669729 0.00603
NM_014874.4(MFN2):c.744C>T (p.Leu248=) rs61733205 0.00591
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_021625.5(TRPV4):c.*423G>A rs151286044 0.00565
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=) rs35078611 0.00542
NM_006070.6(TFG):c.1090A>C (p.Thr364Pro) rs6772054 0.00476
NM_138773.4(SLC25A46):c.378A>G (p.Gln126=) rs151055603 0.00430
NM_014874.4(MFN2):c.*1034C>T rs56333319 0.00427
NM_006070.6(TFG):c.594T>G (p.Ala198=) rs12562 0.00417
NM_014874.4(MFN2):c.975C>T (p.Gly325=) rs141475476 0.00357
NM_138773.4(SLC25A46):c.52G>T (p.Ala18Ser) rs191332512 0.00357
NM_014874.4(MFN2):c.*1830C>T rs74609163 0.00341
NM_021625.5(TRPV4):c.*378G>C rs538255561 0.00305
NM_001358263.1(HK1):c.53T>C (p.Leu18Pro) rs79002951 0.00265
NM_021625.5(TRPV4):c.712+10C>T rs115657305 0.00260
NM_138773.4(SLC25A46):c.631G>A (p.Val211Met) rs114859074 0.00257
NM_006070.6(TFG):c.184+11T>C rs200924045 0.00255
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg) rs41278630 0.00221
NM_006070.6(TFG):c.415+16A>G rs201290760 0.00215
NM_021625.5(TRPV4):c.*365C>T rs184413363 0.00210
NM_021625.5(TRPV4):c.1825-14G>A rs114829048 0.00206
NM_138773.4(SLC25A46):c.563+19C>T rs114954533 0.00203
NM_138773.4(SLC25A46):c.767A>G (p.Lys256Arg) rs141213807 0.00193
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met) rs185933892 0.00191
NM_138773.4(SLC25A46):c.742A>C (p.Ile248Leu) rs149585060 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.*230G>A rs181542514 0.00171
NM_138773.4(SLC25A46):c.278G>A (p.Ser93Asn) rs73230112 0.00170
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_006070.6(TFG):c.1060C>G (p.Pro354Ala) rs111356679 0.00119
NM_006070.6(TFG):c.415+7C>G rs149927288 0.00116
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=) rs141244183 0.00108
NM_014874.4(MFN2):c.165C>T (p.Thr55=) rs77458527 0.00106
NM_014874.4(MFN2):c.408A>T (p.Val136=) rs78814413 0.00106
NM_021625.5(TRPV4):c.*486T>C rs79157363 0.00103
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_021625.5(TRPV4):c.1913C>T (p.Pro638Leu) rs35058636 0.00096
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449 0.00093
NM_021625.5(TRPV4):c.1284G>A (p.Gly428=) rs150773110 0.00093
NM_014874.4(MFN2):c.150C>A (p.Ile50=) rs78841746 0.00089
NM_014874.4(MFN2):c.891C>T (p.Ala297=) rs11554508 0.00087
NM_138773.4(SLC25A46):c.235G>A (p.Glu79Lys) rs200566665 0.00086
NM_014874.4(MFN2):c.1452G>A (p.Thr484=) rs150043585 0.00083
NM_021625.5(TRPV4):c.*190C>T rs141636597 0.00077
NM_014874.4(MFN2):c.*1546G>A rs3737960 0.00074
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=) rs149988106 0.00071
NM_138773.4(SLC25A46):c.385-18G>A rs200817507 0.00065
NM_014874.4(MFN2):c.-4-13G>T rs373679523 0.00060
NM_014874.4(MFN2):c.1495+9C>T rs375494746 0.00059
NM_138773.4(SLC25A46):c.678+17del rs371101588 0.00059
NM_021625.5(TRPV4):c.549G>A (p.Glu183=) rs141908793 0.00058
NM_138773.4(SLC25A46):c.148C>A (p.Pro50Thr) rs147648476 0.00056
NM_021625.5(TRPV4):c.1656del (p.Tyr553fs) rs541606391 0.00054
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_006070.6(TFG):c.457T>G (p.Ser153Ala) rs140466338 0.00051
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_014874.3(MFN2):c.-359C>G rs997846275 0.00049
NM_138773.4(SLC25A46):c.416C>A (p.Thr139Asn) rs202123515 0.00048
NM_014874.3(MFN2):c.-382G>A rs568548916 0.00047
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_138773.4(SLC25A46):c.326+13C>T rs368429622 0.00039
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_014874.4(MFN2):c.*413C>T rs558887681 0.00031
NM_021625.5(TRPV4):c.426G>A (p.Pro142=) rs145327152 0.00031
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
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_014874.4(MFN2):c.*1054C>T rs951038336 0.00025
NM_014874.4(MFN2):c.*1539G>A rs557643473 0.00025
NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg) rs201241092 0.00025
NM_021625.5(TRPV4):c.*99C>T rs552478250 0.00022
NM_021625.5(TRPV4):c.1584+12G>T rs375908611 0.00022
NM_006070.6(TFG):c.988A>G (p.Thr330Ala) rs145835282 0.00021
NM_014874.4(MFN2):c.*1535C>T rs778755558 0.00021
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_138773.4(SLC25A46):c.733G>A (p.Gly245Arg) rs143029135 0.00021
NM_021625.5(TRPV4):c.*500C>T rs929739314 0.00020
NM_021625.5(TRPV4):c.1378C>T (p.Arg460Trp) rs34227547 0.00020
NM_021625.5(TRPV4):c.1584+13C>T rs199712027 0.00020
NM_014874.4(MFN2):c.*946C>A rs765105334 0.00019
NM_021625.5(TRPV4):c.2209-5C>T rs374184761 0.00019
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=) rs202036871 0.00019
NM_006070.6(TFG):c.234T>A (p.Ile78=) rs147546544 0.00018
NM_006070.6(TFG):c.849A>G (p.Gln283=) rs148835012 0.00017
NM_014874.4(MFN2):c.2157G>A (p.Lys719=) rs148441213 0.00017
NM_138773.4(SLC25A46):c.630C>T (p.Tyr210=) rs201039547 0.00017
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_014874.4(MFN2):c.*1276G>A rs766342161 0.00014
NM_014874.4(MFN2):c.-161G>A rs140094248 0.00014
NM_014874.4(MFN2):c.474+4A>G rs141974160 0.00014
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_138773.4(SLC25A46):c.283+10A>G rs763772509 0.00013
NM_138773.4(SLC25A46):c.326+15A>G rs372028597 0.00013
NM_014874.4(MFN2):c.*256G>A rs557772799 0.00012
NM_138773.4(SLC25A46):c.1063C>G (p.Leu355Val) rs139534651 0.00012
NM_006070.6(TFG):c.256C>G (p.Leu86Val) rs140174542 0.00011
NM_006070.6(TFG):c.395C>A (p.Ser132Tyr) rs780219953 0.00011
NM_006070.6(TFG):c.672A>G (p.Pro224=) rs141412018 0.00011
NM_014874.4(MFN2):c.*1153C>T rs542684406 0.00011
NM_014874.4(MFN2):c.*26G>A rs374800481 0.00011
NM_014874.4(MFN2):c.*36G>A rs377468070 0.00011
NM_014874.4(MFN2):c.1987C>T (p.Arg663Cys) rs369762154 0.00011
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_014874.4(MFN2):c.*1706T>G rs543365043 0.00010
NM_014874.4(MFN2):c.*813G>A rs771869272 0.00010
NM_014874.4(MFN2):c.842G>C (p.Cys281Ser) rs147136530 0.00010
NM_021095.4(SLC5A6):c.1865_1866del (p.Gln622fs) rs774193816 0.00010
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_138773.4(SLC25A46):c.385-4A>G rs377289513 0.00009
NM_006070.6(TFG):c.185-9A>T rs778438842 0.00008
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_138773.4(SLC25A46):c.276G>C (p.Gln92His) rs776022965 0.00008
NM_138773.4(SLC25A46):c.598G>A (p.Gly200Arg) rs767725140 0.00008
NM_006070.6(TFG):c.581-6A>C rs369615915 0.00007
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_138773.4(SLC25A46):c.265G>C (p.Val89Leu) rs777269362 0.00007
NM_006070.6(TFG):c.1087T>G (p.Phe363Val) rs758939134 0.00006
NM_006070.6(TFG):c.1145C>T (p.Ala382Val) rs138185005 0.00006
NM_006070.6(TFG):c.1147C>T (p.Arg383Cys) rs146078119 0.00006
NM_006070.6(TFG):c.545T>C (p.Met182Thr) rs199724547 0.00006
NM_006070.6(TFG):c.944C>T (p.Pro315Leu) rs753375115 0.00006
NM_014874.3(MFN2):c.-468G>A rs973376897 0.00006
NM_021625.5(TRPV4):c.*405G>A rs886048937 0.00006
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_138773.4(SLC25A46):c.410A>G (p.His137Arg) rs754427464 0.00006
NM_006070.6(TFG):c.1079G>A (p.Arg360Lys) rs753259754 0.00005
NM_006070.6(TFG):c.557G>A (p.Gly186Asp) rs369981362 0.00005
NM_006070.6(TFG):c.716T>C (p.Ile239Thr) rs146004809 0.00005
NM_014874.3(MFN2):c.-328T>A rs886045217 0.00005
NM_014874.4(MFN2):c.*1295G>A rs763783578 0.00005
NM_014874.4(MFN2):c.179C>T (p.Thr60Met) rs138345244 0.00005
NM_021625.5(TRPV4):c.*411A>G rs924343915 0.00005
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_138773.4(SLC25A46):c.273G>T (p.Gly91=) rs770228533 0.00005
NM_138773.4(SLC25A46):c.776T>G (p.Leu259Arg) rs150754737 0.00005
NM_001358263.1(HK1):c.4G>A (p.Gly2Arg) rs766565453 0.00004
NM_006070.6(TFG):c.1002T>G (p.Ser334=) rs761683764 0.00004
NM_006070.6(TFG):c.1146G>A (p.Ala382=) rs761808737 0.00004
NM_006070.6(TFG):c.68G>A (p.Arg23Gln) rs774808090 0.00004
NM_006070.6(TFG):c.753C>T (p.Ala251=) rs561791332 0.00004
NM_006070.6(TFG):c.820+3G>A rs367852812 0.00004
NM_006070.6(TFG):c.996A>G (p.Gln332=) rs774298210 0.00004
NM_014874.4(MFN2):c.1269G>A (p.Thr423=) rs145994616 0.00004
NM_014874.4(MFN2):c.176-7C>T rs374055101 0.00004
NM_014874.4(MFN2):c.522T>C (p.His174=) rs762789747 0.00004
NM_014874.4(MFN2):c.58C>T (p.His20Tyr) rs201715603 0.00004
NM_021625.5(TRPV4):c.*303G>A rs909596433 0.00004
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.936G>A (p.Ala312=) rs202084699 0.00004
NM_138773.4(SLC25A46):c.144T>C (p.Asp48=) rs139629514 0.00004
NM_138773.4(SLC25A46):c.203C>T (p.Thr68Ile) rs763466158 0.00004
NM_138773.4(SLC25A46):c.326+6G>A rs1376332022 0.00004
NM_138773.4(SLC25A46):c.679-9T>G rs184715255 0.00004
NM_006070.6(TFG):c.1154G>A (p.Arg385His) rs373719892 0.00003
NM_006070.6(TFG):c.171G>A (p.Lys57=) rs201326908 0.00003
NM_006070.6(TFG):c.177A>G (p.Lys59=) rs766483726 0.00003
NM_006070.6(TFG):c.337C>A (p.Arg113=) rs764959531 0.00003
NM_006070.6(TFG):c.438A>G (p.Glu146=) rs1258206651 0.00003
NM_006070.6(TFG):c.882A>C (p.Gln294His) rs751393611 0.00003
NM_014874.4(MFN2):c.*1562G>A rs551566332 0.00003
NM_014874.4(MFN2):c.*1662T>C rs1020801224 0.00003
NM_014874.4(MFN2):c.*297T>A rs886045224 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_014874.4(MFN2):c.1181G>A (p.Arg394His) rs538243357 0.00003
NM_014874.4(MFN2):c.2145C>T (p.Ala715=) rs571011689 0.00003
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_138773.4(SLC25A46):c.1018C>T (p.Arg340Cys) rs746681765 0.00003
NM_138773.4(SLC25A46):c.1176T>G (p.Val392=) rs140617247 0.00003
NM_138773.4(SLC25A46):c.219C>T (p.Tyr73=) rs755840361 0.00003
NM_138773.4(SLC25A46):c.314T>C (p.Ile105Thr) rs375056013 0.00003
NM_138773.4(SLC25A46):c.458C>A (p.Thr153Asn) rs775286893 0.00003
NM_138773.4(SLC25A46):c.746G>A (p.Gly249Asp) rs200725073 0.00003
NM_138773.4(SLC25A46):c.780G>A (p.Pro260=) rs766154121 0.00003
NM_000188.3(HK1):c.949G>A (p.Gly317Ser) rs202028638 0.00002
NM_006070.6(TFG):c.1048G>A (p.Ala350Thr) rs543542721 0.00002
NM_006070.6(TFG):c.1172G>T (p.Gly391Val) rs1214775332 0.00002
NM_006070.6(TFG):c.225C>G (p.Ser75=) rs747353898 0.00002
NM_006070.6(TFG):c.391C>T (p.Pro131Ser) rs770053266 0.00002
NM_006070.6(TFG):c.401A>G (p.Asn134Ser) rs768746409 0.00002
NM_006070.6(TFG):c.464A>G (p.Lys155Arg) rs966574827 0.00002
NM_006070.6(TFG):c.544A>C (p.Met182Leu) rs755242228 0.00002
NM_006070.6(TFG):c.64C>T (p.Arg22Trp) rs989357227 0.00002
NM_006070.6(TFG):c.738G>C (p.Gln246His) rs370273888 0.00002
NM_006070.6(TFG):c.771G>A (p.Gln257=) rs374006808 0.00002
NM_006070.6(TFG):c.828T>C (p.Tyr276=) rs372641906 0.00002
NM_014874.4(MFN2):c.1818C>T (p.Gly606=) rs373843969 0.00002
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_138773.4(SLC25A46):c.168C>T (p.His56=) rs140606969 0.00002
NM_138773.4(SLC25A46):c.169T>C (p.Trp57Arg) rs761045034 0.00002
NM_138773.4(SLC25A46):c.210C>T (p.Ser70=) rs1438784180 0.00002
NM_138773.4(SLC25A46):c.370C>T (p.Arg124Cys) rs750732884 0.00002
NM_138773.4(SLC25A46):c.558G>A (p.Leu186=) rs200143217 0.00002
NM_138773.4(SLC25A46):c.678+15dup rs762000801 0.00002
NM_138773.4(SLC25A46):c.849G>C (p.Gln283His) rs772739765 0.00002
NM_138773.4(SLC25A46):c.908C>A (p.Thr303Asn) rs754372484 0.00002
NM_138773.4(SLC25A46):c.977G>T (p.Cys326Phe) rs762881271 0.00002
NM_138773.4(SLC25A46):c.985G>A (p.Val329Ile) rs750717175 0.00002
NM_000188.3(HK1):c.1720-3C>T rs1256697528 0.00001
NM_001145809.2(MYH14):c.1945+6G>A rs1057518869 0.00001
NM_001358263.1(HK1):c.19C>T (p.Arg7Ter) rs779250530 0.00001
NM_006070.6(TFG):c.1006C>T (p.Pro336Ser) rs371681149 0.00001
NM_006070.6(TFG):c.1070A>G (p.Tyr357Cys) rs1375662436 0.00001
NM_006070.6(TFG):c.1094C>T (p.Ser365Leu) rs1288104441 0.00001
NM_006070.6(TFG):c.1116C>T (p.Thr372=) rs1576389880 0.00001
NM_006070.6(TFG):c.1123C>G (p.Pro375Ala) rs1234073129 0.00001
NM_006070.6(TFG):c.1153C>T (p.Arg385Cys) rs548772203 0.00001
NM_006070.6(TFG):c.1165G>C (p.Gly389Arg) rs1576390105 0.00001
NM_006070.6(TFG):c.213T>C (p.Ser71=) rs773769795 0.00001
NM_006070.6(TFG):c.25G>A (p.Gly9Arg) rs200716443 0.00001
NM_006070.6(TFG):c.268+18T>A rs767431238 0.00001
NM_006070.6(TFG):c.268+20A>T rs755835566 0.00001
NM_006070.6(TFG):c.268G>A (p.Val90Ile) rs1468380372 0.00001
NM_006070.6(TFG):c.269-5T>C rs2095082752 0.00001
NM_006070.6(TFG):c.286C>T (p.Pro96Ser) rs1435777080 0.00001
NM_006070.6(TFG):c.293A>C (p.Glu98Ala) rs2095082870 0.00001
NM_006070.6(TFG):c.309A>G (p.Lys103=) rs369508900 0.00001
NM_006070.6(TFG):c.310T>C (p.Tyr104His) rs775608477 0.00001
NM_006070.6(TFG):c.316C>T (p.Arg106Cys) rs587777175 0.00001
NM_006070.6(TFG):c.317G>A (p.Arg106His) rs376971794 0.00001
NM_006070.6(TFG):c.409G>C (p.Glu137Gln) rs760595911 0.00001
NM_006070.6(TFG):c.458C>T (p.Ser153Phe) rs775354552 0.00001
NM_006070.6(TFG):c.474T>C (p.Thr158=) rs2095094645 0.00001
NM_006070.6(TFG):c.482T>C (p.Met161Thr) rs766899074 0.00001
NM_006070.6(TFG):c.484G>A (p.Ala162Thr) rs1346466403 0.00001
NM_006070.6(TFG):c.499G>A (p.Ala167Thr) rs1428468084 0.00001
NM_006070.6(TFG):c.550G>A (p.Ala184Thr) rs777654574 0.00001
NM_006070.6(TFG):c.580+6T>C rs372196251 0.00001
NM_006070.6(TFG):c.581-10G>A rs749200284 0.00001
NM_006070.6(TFG):c.608G>A (p.Arg203His) rs879472420 0.00001
NM_006070.6(TFG):c.621C>T (p.Pro207=) rs141786985 0.00001
NM_006070.6(TFG):c.664G>A (p.Val222Ile) rs144368144 0.00001
NM_006070.6(TFG):c.690A>G (p.Thr230=) rs777434458 0.00001
NM_006070.6(TFG):c.6C>T (p.Asn2=) rs771836549 0.00001
NM_006070.6(TFG):c.705A>G (p.Gln235=) rs372286781 0.00001
NM_006070.6(TFG):c.754G>A (p.Gly252Ser) rs561904697 0.00001
NM_006070.6(TFG):c.756C>G (p.Gly252=) rs867600144 0.00001
NM_006070.6(TFG):c.765A>C (p.Ala255=) rs1057522690 0.00001
NM_006070.6(TFG):c.773C>T (p.Pro258Leu) rs752762145 0.00001
NM_006070.6(TFG):c.821C>T (p.Ala274Val) rs368994316 0.00001
NM_006070.6(TFG):c.850C>G (p.Gln284Glu) rs760894126 0.00001
NM_006070.6(TFG):c.852A>C (p.Gln284His) rs1559726965 0.00001
NM_006070.6(TFG):c.867G>A (p.Gln289=) rs1340191664 0.00001
NM_006070.6(TFG):c.981A>G (p.Gln327=) rs759578675 0.00001
NM_014874.4(MFN2):c.*1222G>A rs531732785 0.00001
NM_014874.4(MFN2):c.*131G>A rs1639706861 0.00001
NM_014874.4(MFN2):c.*1902C>T rs933126234 0.00001
NM_014874.4(MFN2):c.*226C>T rs184254413 0.00001
NM_014874.4(MFN2):c.*870C>T rs886045227 0.00001
NM_014874.4(MFN2):c.1253G>A (p.Arg418Gln) rs766998571 0.00001
NM_014874.4(MFN2):c.1292C>T (p.Ser431Leu) rs764374251 0.00001
NM_014874.4(MFN2):c.1806C>T (p.Ser602=) rs201258935 0.00001
NM_014874.4(MFN2):c.1858G>A (p.Val620Ile) rs200936779 0.00001
NM_014874.4(MFN2):c.1946G>A (p.Arg649His) rs763492075 0.00001
NM_014874.4(MFN2):c.205G>A (p.Val69Ile) rs28940296 0.00001
NM_014874.4(MFN2):c.2204+13C>T rs200441797 0.00001
NM_021095.4(SLC5A6):c.280C>T (p.Arg94Ter) rs994218778 0.00001
NM_021095.4(SLC5A6):c.485A>G (p.Tyr162Cys) rs748890911 0.00001
NM_021625.5(TRPV4):c.*212G>A rs886048938 0.00001
NM_021625.5(TRPV4):c.*51G>A rs886048939 0.00001
NM_021625.5(TRPV4):c.-59C>T rs1299040866 0.00001
NM_021625.5(TRPV4):c.-74G>A rs886048942 0.00001
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.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.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.2471C>T (p.Ser824Leu) rs764622721 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.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
NM_138773.4(SLC25A46):c.1008A>G (p.Thr336=) rs753034037 0.00001
NM_138773.4(SLC25A46):c.1012T>C (p.Leu338=) rs1427862087 0.00001
NM_138773.4(SLC25A46):c.1019G>A (p.Arg340His) rs1406148342 0.00001
NM_138773.4(SLC25A46):c.1039C>T (p.Arg347Cys) rs1800252146 0.00001
NM_138773.4(SLC25A46):c.1074A>G (p.Glu358=) rs762830379 0.00001
NM_138773.4(SLC25A46):c.1101G>A (p.Glu367=) rs768641525 0.00001
NM_138773.4(SLC25A46):c.1198G>A (p.Ala400Thr) rs1800256724 0.00001
NM_138773.4(SLC25A46):c.1218C>A (p.Thr406=) rs530497959 0.00001
NM_138773.4(SLC25A46):c.1248T>C (p.Asn416=) rs776771749 0.00001
NM_138773.4(SLC25A46):c.124T>G (p.Trp42Gly) rs1167256450 0.00001
NM_138773.4(SLC25A46):c.12G>A (p.Arg4=) rs1443851670 0.00001
NM_138773.4(SLC25A46):c.166dup (p.His56fs) rs1057519416 0.00001
NM_138773.4(SLC25A46):c.177G>A (p.Glu59=) rs777324317 0.00001
NM_138773.4(SLC25A46):c.194G>C (p.Gly65Ala) rs1410055577 0.00001
NM_138773.4(SLC25A46):c.19G>A (p.Asp7Asn) rs1295016936 0.00001
NM_138773.4(SLC25A46):c.229A>C (p.Thr77Pro) rs1799549657 0.00001
NM_138773.4(SLC25A46):c.230C>T (p.Thr77Met) rs968966762 0.00001
NM_138773.4(SLC25A46):c.237A>C (p.Glu79Asp) rs1235999169 0.00001
NM_138773.4(SLC25A46):c.23G>C (p.Gly8Ala) rs960197684 0.00001
NM_138773.4(SLC25A46):c.261C>A (p.Gly87=) rs955762085 0.00001
NM_138773.4(SLC25A46):c.26T>C (p.Phe9Ser) rs1561595610 0.00001
NM_138773.4(SLC25A46):c.283+13G>A rs1445933845 0.00001
NM_138773.4(SLC25A46):c.313A>T (p.Ile105Phe) rs768960064 0.00001
NM_138773.4(SLC25A46):c.315T>G (p.Ile105Met) rs761386224 0.00001
NM_138773.4(SLC25A46):c.323C>T (p.Ala108Val) rs1400743911 0.00001
NM_138773.4(SLC25A46):c.326+20C>T rs751750749 0.00001
NM_138773.4(SLC25A46):c.371G>A (p.Arg124His) rs756258729 0.00001
NM_138773.4(SLC25A46):c.384+7G>A rs760742549 0.00001
NM_138773.4(SLC25A46):c.385G>A (p.Val129Ile) rs766440921 0.00001
NM_138773.4(SLC25A46):c.426A>T (p.Thr142=) rs758691521 0.00001
NM_138773.4(SLC25A46):c.436A>G (p.Ile146Val) rs770525652 0.00001
NM_138773.4(SLC25A46):c.43C>T (p.Arg15Trp) rs369936836 0.00001
NM_138773.4(SLC25A46):c.55C>A (p.Arg19=) rs1186440654 0.00001
NM_138773.4(SLC25A46):c.564-15A>G rs1394762178 0.00001
NM_138773.4(SLC25A46):c.569T>C (p.Val190Ala) rs372083789 0.00001
NM_138773.4(SLC25A46):c.626C>T (p.Thr209Ile) rs752217990 0.00001
NM_138773.4(SLC25A46):c.632T>C (p.Val211Ala) rs756983101 0.00001
NM_138773.4(SLC25A46):c.634G>T (p.Val212Leu) rs543911130 0.00001
NM_138773.4(SLC25A46):c.661C>A (p.Leu221Met) rs141365604 0.00001
NM_138773.4(SLC25A46):c.679-12T>C rs1329331980 0.00001
NM_138773.4(SLC25A46):c.679-7A>G rs775146466 0.00001
NM_138773.4(SLC25A46):c.711G>A (p.Leu237=) rs1411625237 0.00001
NM_138773.4(SLC25A46):c.740T>C (p.Val247Ala) rs1308587017 0.00001
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu) rs1580870705 0.00001
NM_138773.4(SLC25A46):c.804G>A (p.Thr268=) rs757342761 0.00001
NM_138773.4(SLC25A46):c.81C>T (p.Ala27=) rs1323118441 0.00001
NM_138773.4(SLC25A46):c.829A>C (p.Ile277Leu) rs747810302 0.00001
NM_138773.4(SLC25A46):c.84C>T (p.Phe28=) rs1460019948 0.00001
NM_138773.4(SLC25A46):c.884A>C (p.Tyr295Ser) rs765131039 0.00001
NM_138773.4(SLC25A46):c.887A>G (p.Asn296Ser) rs201789237 0.00001
NM_138773.4(SLC25A46):c.930G>T (p.Leu310Phe) rs746484775 0.00001
GRCh37/hg19 1p36.22(chr1:12058633-12059409)x1
NC_000003.11:g.(?_100432510)_(100438922_?)dup
NC_000003.11:g.(?_100432520)_(100438912_?)dup
NC_000003.11:g.(?_100432530)_(100432733_?)dup
NC_000003.11:g.(?_100432530)_(100438902_?)dup
NC_000003.11:g.(?_100432530)_(100438912_?)dup
NC_000003.11:g.(?_100432530)_(100438922_?)dup
NC_000003.11:g.(?_100432530)_(100467375_?)del
NC_000003.11:g.(?_100455410)_(100463785_?)del
NC_000003.11:g.(?_100463667)_(100467385_?)dup
NC_000005.10:g.(?_110743720)_(110743797_?)del
NC_000005.9:g.(?_110074801)_(110151791_?)del
NC_000005.9:g.(?_110074821)_(110097482_?)del
NC_000005.9:g.(?_110074821)_110097482del
NC_000005.9:g.(?_110077728)_(110083984_?)dup
NC_000005.9:g.(?_110096884)_(110097482_?)dup
NC_000012.11:g.(?_110221426)_(110224662_?)dup
NC_000012.11:g.(?_110232124)_(110236727_?)del
NC_000012.11:g.(?_110252196)_(110252601_?)del
NM_000188.3(HK1):c.1252A>G (p.Lys418Glu) rs1564557037
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000188.3(HK1):c.1871dup (p.Ala625fs) rs754451671
NM_000188.3(HK1):c.271C>T (p.Arg91Ter)
NM_001303250.3(SLC25A46):c.10+526_11-1368delinsGGCCGGGCGCG
NM_001330701.2(AGTPBP1):c.2186+2T>G rs1564069807
NM_001358263.1(HK1):c.-270G>C rs397514654
NM_001358263.1(HK1):c.-290G>C rs797044964
NM_001358263.1(HK1):c.1A>G (p.Met1Val) rs1589439508
NM_001358263.1(HK1):c.75+23T>C rs4746837
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly) rs201272954
NM_002047.4(GARS1):c.1809+10_1809+12del rs747338292
NM_006070.6(TFG):c.1009A>G (p.Thr337Ala)
NM_006070.6(TFG):c.1012A>G (p.Asn338Asp)
NM_006070.6(TFG):c.1014T>G (p.Asn338Lys) rs1553704923
NM_006070.6(TFG):c.1017T>A (p.Tyr339Ter)
NM_006070.6(TFG):c.101A>T (p.Asp34Val)
NM_006070.6(TFG):c.1027C>G (p.Pro343Ala) rs750232252
NM_006070.6(TFG):c.1030G>A (p.Ala344Thr) rs1576389587
NM_006070.6(TFG):c.1036C>T (p.Gln346Ter) rs1576389617
NM_006070.6(TFG):c.1051C>T (p.Pro351Ser) rs2149106556
NM_006070.6(TFG):c.1054A>G (p.Ser352Gly)
NM_006070.6(TFG):c.1097T>A (p.Leu366His)
NM_006070.6(TFG):c.1111A>G (p.Met371Val) rs2095155960
NM_006070.6(TFG):c.1113G>A (p.Met371Ile)
NM_006070.6(TFG):c.1118dup (p.Pro374fs)
NM_006070.6(TFG):c.1120C>T (p.Pro374Ser) rs781504257
NM_006070.6(TFG):c.1123C>T (p.Pro375Ser)
NM_006070.6(TFG):c.1131G>A (p.Gly377=)
NM_006070.6(TFG):c.1133C>T (p.Pro378Leu) rs2095156171
NM_006070.6(TFG):c.1153C>G (p.Arg385Gly)
NM_006070.6(TFG):c.1157C>T (p.Pro386Leu) rs766049461
NM_006070.6(TFG):c.1163T>G (p.Phe388Cys) rs2149106914
NM_006070.6(TFG):c.1166G>A (p.Gly389Asp)
NM_006070.6(TFG):c.1176T>C (p.Tyr392=) rs1197524442
NM_006070.6(TFG):c.1178C>A (p.Thr393Asn)
NM_006070.6(TFG):c.1179C>T (p.Thr393=) rs764626833
NM_006070.6(TFG):c.1182A>G (p.Gln394=)
NM_006070.6(TFG):c.1185T>C (p.Pro395=) rs1185375387
NM_006070.6(TFG):c.1187G>A (p.Gly396Glu)
NM_006070.6(TFG):c.1199G>A (p.Arg400Gln) rs963151000
NM_006070.6(TFG):c.1199G>C (p.Arg400Pro) rs963151000
NM_006070.6(TFG):c.1202A>G (p.Ter401=)
NM_006070.6(TFG):c.133A>C (p.Arg45=)
NM_006070.6(TFG):c.160G>A (p.Val54Ile)
NM_006070.6(TFG):c.162A>C (p.Val54=)
NM_006070.6(TFG):c.166A>G (p.Ile56Val)
NM_006070.6(TFG):c.174T>C (p.Tyr58=)
NM_006070.6(TFG):c.175A>G (p.Lys59Glu)
NM_006070.6(TFG):c.17A>C (p.Asp6Ala)
NM_006070.6(TFG):c.183A>C (p.Glu61Asp)
NM_006070.6(TFG):c.184+13T>C
NM_006070.6(TFG):c.184+5G>A
NM_006070.6(TFG):c.184+6A>C
NM_006070.6(TFG):c.185-10T>A rs79631225
NM_006070.6(TFG):c.185-10T>C rs79631225
NM_006070.6(TFG):c.185-13T>C
NM_006070.6(TFG):c.185-7del rs776693527
NM_006070.6(TFG):c.194T>G (p.Leu65Arg) rs2149066367
NM_006070.6(TFG):c.196A>G (p.Ile66Val) rs2095056321
NM_006070.6(TFG):c.197T>C (p.Ile66Thr)
NM_006070.6(TFG):c.198A>G (p.Ile66Met) rs2095056339
NM_006070.6(TFG):c.219C>T (p.Asp73=) rs2149066401
NM_006070.6(TFG):c.230C>T (p.Ala77Val)
NM_006070.6(TFG):c.231A>G (p.Ala77=) rs771223027
NM_006070.6(TFG):c.237G>T (p.Gln79His) rs1173009495
NM_006070.6(TFG):c.24T>C (p.Ser8=) rs1553699512
NM_006070.6(TFG):c.254A>C (p.Lys85Thr)
NM_006070.6(TFG):c.258G>A (p.Leu86=)
NM_006070.6(TFG):c.261A>G (p.Thr87=) rs2149066459
NM_006070.6(TFG):c.264A>G (p.Leu88=)
NM_006070.6(TFG):c.268+12A>G rs2149066494
NM_006070.6(TFG):c.268+18del
NM_006070.6(TFG):c.268+7A>G
NM_006070.6(TFG):c.268+8G>A rs1227137986
NM_006070.6(TFG):c.269-13G>A
NM_006070.6(TFG):c.276C>T (p.Gly92=)
NM_006070.6(TFG):c.280C>A (p.Pro94Thr)
NM_006070.6(TFG):c.288C>G (p.Pro96=) rs1180461235
NM_006070.6(TFG):c.290T>A (p.Leu97His) rs1576366321
NM_006070.6(TFG):c.302A>G (p.Gln101Arg) rs1576366326
NM_006070.6(TFG):c.303G>A (p.Gln101=)
NM_006070.6(TFG):c.303G>C (p.Gln101His) rs746086227
NM_006070.6(TFG):c.320G>A (p.Arg107Gln)
NM_006070.6(TFG):c.320G>C (p.Arg107Pro) rs373307369
NM_006070.6(TFG):c.324A>G (p.Glu108=)
NM_006070.6(TFG):c.325C>T (p.Leu109=)
NM_006070.6(TFG):c.330A>G (p.Ile110Met)
NM_006070.6(TFG):c.332A>C (p.Glu111Ala)
NM_006070.6(TFG):c.338G>T (p.Arg113Leu)
NM_006070.6(TFG):c.33A>T (p.Leu11=)
NM_006070.6(TFG):c.341A>G (p.Asn114Ser) rs752292956
NM_006070.6(TFG):c.348G>C (p.Val116=) rs1576366448
NM_006070.6(TFG):c.34A>G (p.Ile12Val) rs2149057606
NM_006070.6(TFG):c.352C>T (p.Arg118Cys)
NM_006070.6(TFG):c.353G>A (p.Arg118His) rs376804190
NM_006070.6(TFG):c.361G>A (p.Asp121Asn)
NM_006070.6(TFG):c.361G>T (p.Asp121Tyr) rs907540820
NM_006070.6(TFG):c.373C>T (p.Pro125Ser) rs746234370
NM_006070.6(TFG):c.37A>G (p.Ile13Val) rs200695895
NM_006070.6(TFG):c.403A>G (p.Ile135Val)
NM_006070.6(TFG):c.415+12del rs765751527
NM_006070.6(TFG):c.415+18T>G rs752417508
NM_006070.6(TFG):c.415+8del rs2149078273
NM_006070.6(TFG):c.416-12C>G rs2149082632
NM_006070.6(TFG):c.416-4A>G
NM_006070.6(TFG):c.416-8T>A rs1321102960
NM_006070.6(TFG):c.417T>C (p.Asp139=)
NM_006070.6(TFG):c.432G>A (p.Arg144=)
NM_006070.6(TFG):c.467A>G (p.Gln156Arg) rs1244307042
NM_006070.6(TFG):c.478del (p.Val160fs) rs2149082751
NM_006070.6(TFG):c.483G>A (p.Met161Ile) rs750964585
NM_006070.6(TFG):c.489A>G (p.Ala163=)
NM_006070.6(TFG):c.504T>C (p.Phe168=)
NM_006070.6(TFG):c.514A>G (p.Lys172Glu) rs2149082817
NM_006070.6(TFG):c.518A>G (p.Asn173Ser)
NM_006070.6(TFG):c.524A>G (p.Asp175Gly)
NM_006070.6(TFG):c.531C>T (p.Ile177=) rs766735962
NM_006070.6(TFG):c.533A>G (p.Asn178Ser)
NM_006070.6(TFG):c.53G>C (p.Gly18Ala)
NM_006070.6(TFG):c.541_543del (p.Val181del)
NM_006070.6(TFG):c.552G>C (p.Ala184=)
NM_006070.6(TFG):c.556G>A (p.Gly186Ser) rs867024898
NM_006070.6(TFG):c.565G>A (p.Asp189Asn)
NM_006070.6(TFG):c.567T>A (p.Asp189Glu) rs370447670
NM_006070.6(TFG):c.57G>A (p.Glu19=) rs1576353054
NM_006070.6(TFG):c.580+14del
NM_006070.6(TFG):c.580+16A>G
NM_006070.6(TFG):c.580+19C>T
NM_006070.6(TFG):c.581-10G>T
NM_006070.6(TFG):c.581-11dup
NM_006070.6(TFG):c.581-14_581-11del
NM_006070.6(TFG):c.581-24_581-9del
NM_006070.6(TFG):c.581-8C>G
NM_006070.6(TFG):c.585A>C (p.Pro195=)
NM_006070.6(TFG):c.588C>T (p.Pro196=) rs2149087481
NM_006070.6(TFG):c.597T>C (p.Pro199=)
NM_006070.6(TFG):c.600A>G (p.Ala200=)
NM_006070.6(TFG):c.61A>G (p.Ile21Val)
NM_006070.6(TFG):c.61A>T (p.Ile21Phe) rs377136610
NM_006070.6(TFG):c.621C>G (p.Pro207=) rs141786985
NM_006070.6(TFG):c.622G>A (p.Asp208Asn) rs34112649
NM_006070.6(TFG):c.636C>T (p.Ser212=)
NM_006070.6(TFG):c.638C>G (p.Ser213Cys) rs2095107235
NM_006070.6(TFG):c.641C>G (p.Ser214Cys)
NM_006070.6(TFG):c.641C>T (p.Ser214Phe)
NM_006070.6(TFG):c.663C>T (p.Gly221=) rs140669729
NM_006070.6(TFG):c.672A>C (p.Pro224=) rs141412018
NM_006070.6(TFG):c.684A>G (p.Pro228=)
NM_006070.6(TFG):c.689C>A (p.Thr230Lys)
NM_006070.6(TFG):c.689C>T (p.Thr230Ile)
NM_006070.6(TFG):c.700A>G (p.Thr234Ala)
NM_006070.6(TFG):c.701C>T (p.Thr234Ile)
NM_006070.6(TFG):c.709G>A (p.Gly237Ser)
NM_006070.6(TFG):c.715A>G (p.Ile239Val)
NM_006070.6(TFG):c.721+14T>C
NM_006070.6(TFG):c.721+14del rs1005708219
NM_006070.6(TFG):c.721+19C>T rs1361371990
NM_006070.6(TFG):c.721+20A>T
NM_006070.6(TFG):c.722-10G>C
NM_006070.6(TFG):c.722-25TG[5]
NM_006070.6(TFG):c.722-25TG[6]
NM_006070.6(TFG):c.722-5_722-4dup rs1242696461
NM_006070.6(TFG):c.722-8G>A
NM_006070.6(TFG):c.729G>A (p.Met243Ile)
NM_006070.6(TFG):c.740A>G (p.Tyr247Cys) rs1559723912
NM_006070.6(TFG):c.741C>T (p.Tyr247=) rs1576379547
NM_006070.6(TFG):c.743A>G (p.Gln248Arg) rs1576379554
NM_006070.6(TFG):c.758A>G (p.Tyr253Cys)
NM_006070.6(TFG):c.766C>A (p.Gln256Lys)
NM_006070.6(TFG):c.774G>A (p.Pro258=) rs1367793822
NM_006070.6(TFG):c.774G>C (p.Pro258=)
NM_006070.6(TFG):c.776A>G (p.Gln259Arg) rs891678936
NM_006070.6(TFG):c.781C>G (p.Pro261Ala)
NM_006070.6(TFG):c.783A>G (p.Pro261=)
NM_006070.6(TFG):c.792G>T (p.Gln264His) rs1576379647
NM_006070.6(TFG):c.796C>G (p.Gln266Glu)
NM_006070.6(TFG):c.806G>T (p.Gly269Val) rs587777789
NM_006070.6(TFG):c.808A>C (p.Ile270Leu)
NM_006070.6(TFG):c.80A>G (p.His27Arg)
NM_006070.6(TFG):c.820+15_820+19del
NM_006070.6(TFG):c.820+18G>A
NM_006070.6(TFG):c.820+19G>C
NM_006070.6(TFG):c.820+8G>A rs2149096879
NM_006070.6(TFG):c.821-18T>C rs756950367
NM_006070.6(TFG):c.821-18_821-16del rs2149105617
NM_006070.6(TFG):c.821-20T>A rs2149105586
NM_006070.6(TFG):c.821-5T>C rs2149105737
NM_006070.6(TFG):c.826T>C (p.Tyr276His) rs1559726842
NM_006070.6(TFG):c.827A>G (p.Tyr276Cys)
NM_006070.6(TFG):c.830G>A (p.Ser277Asn)
NM_006070.6(TFG):c.833A>C (p.Gln278Pro)
NM_006070.6(TFG):c.854C>T (p.Pro285Leu) rs207482230
NM_006070.6(TFG):c.870A>G (p.Gly290=) rs2095153634
NM_006070.6(TFG):c.870A>T (p.Gly290=)
NM_006070.6(TFG):c.874G>A (p.Gly292Ser) rs1053918783
NM_006070.6(TFG):c.875G>C (p.Gly292Ala)
NM_006070.6(TFG):c.880C>A (p.Gln294Lys)
NM_006070.6(TFG):c.889del (p.Ser297fs)
NM_006070.6(TFG):c.898C>A (p.Pro300Thr) rs1210008384
NM_006070.6(TFG):c.898C>T (p.Pro300Ser) rs1210008384
NM_006070.6(TFG):c.908C>T (p.Ala303Val) rs1576389064
NM_006070.6(TFG):c.923C>G (p.Pro308Arg) rs2149106095
NM_006070.6(TFG):c.923C>T (p.Pro308Leu)
NM_006070.6(TFG):c.925C>G (p.Gln309Glu)
NM_006070.6(TFG):c.927A>G (p.Gln309=)
NM_006070.6(TFG):c.928C>A (p.Gln310Lys)
NM_006070.6(TFG):c.933G>T (p.Leu311=) rs2149106140
NM_006070.6(TFG):c.939T>C (p.Ala313=)
NM_006070.6(TFG):c.943C>T (p.Pro315Ser) rs1553704852
NM_006070.6(TFG):c.954G>A (p.Gln318=)
NM_006070.6(TFG):c.960G>T (p.Gln320His)
NM_006070.6(TFG):c.962C>G (p.Ala321Gly)
NM_006070.6(TFG):c.968A>G (p.Asn323Ser)
NM_006070.6(TFG):c.976G>T (p.Ala326Ser) rs776620173
NM_006070.6(TFG):c.97T>C (p.Tyr33His) rs2095037556
NM_006070.6(TFG):c.980A>G (p.Gln327Arg) rs1431898500
NM_006070.6(TFG):c.986A>C (p.Tyr329Ser)
NM_006070.6(TFG):c.986dup (p.Tyr329Ter) rs2095154725
NM_006070.6(TFG):c.987C>T (p.Tyr329=) rs1362903359
NM_006070.6(TFG):c.98A>G (p.Tyr33Cys) rs763523148
NM_006070.6(TFG):c.993C>G (p.Ala331=)
NM_006070.6(TFG):c.993C>T (p.Ala331=) rs1490621305
NM_006070.6(TFG):c.99T>A (p.Tyr33Ter)
NM_006070.6(TFG):c.99T>C (p.Tyr33=)
NM_006070.6(TFG):c.9_10delinsGA (p.Gln4Lys) rs2095037361
NM_014874.3(MFN2):c.-217C>A rs886045218
NM_014874.3(MFN2):c.-344C>T rs886045216
NM_014874.4(MFN2):c.*1068C>T rs886045229
NM_014874.4(MFN2):c.*1258G>A rs116156978
NM_014874.4(MFN2):c.*1392A>G rs886045230
NM_014874.4(MFN2):c.*1763G>A rs1639769422
NM_014874.4(MFN2):c.*381C>A rs966318629
NM_014874.4(MFN2):c.*57C>T rs886045221
NM_014874.4(MFN2):c.*864T>C rs886045226
NM_014874.4(MFN2):c.-80C>T rs7538183
NM_014874.4(MFN2):c.1090C>T (p.Arg364Trp) rs119103265
NM_014874.4(MFN2):c.1126A>G (p.Met376Val) rs863224967
NM_014874.4(MFN2):c.1143GGC[1] (p.Ala383del) rs1553144065
NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter) rs879253939
NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter) rs1057517987
NM_014874.4(MFN2):c.1385A>G (p.Tyr462Cys) rs2100849130
NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro) rs1553145023
NM_014874.4(MFN2):c.153G>T (p.Gln51His) rs886045219
NM_014874.4(MFN2):c.1555C>T (p.Arg519Cys) rs369140232
NM_014874.4(MFN2):c.1615G>A (p.Glu539Lys)
NM_014874.4(MFN2):c.1631A>G (p.His544Arg) rs1639384043
NM_014874.4(MFN2):c.1659G>A (p.Val553=) rs886045220
NM_014874.4(MFN2):c.1716+8A>G rs1639390139
NM_014874.4(MFN2):c.176-3C>T rs975369655
NM_014874.4(MFN2):c.1777T>A (p.Ser593Thr) rs1639429397
NM_014874.4(MFN2):c.1839dup (p.Thr614fs) rs1553145402
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014874.4(MFN2):c.1938C>A (p.Val646=) rs1040702840
NM_014874.4(MFN2):c.1950G>A (p.Leu650=) rs772030424
NM_014874.4(MFN2):c.2120G>A (p.Arg707Gln)
NM_014874.4(MFN2):c.2211A>G (p.Lys737=) rs1639694970
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser) rs28940292
NM_014874.4(MFN2):c.2229T>G (p.Ser743Arg) rs1569890121
NM_014874.4(MFN2):c.271G>A (p.Val91Met) rs1557519001
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp) rs119103263
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln) rs28940291
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp) rs119103268
NM_014874.4(MFN2):c.404G>T (p.Arg135Leu)
NM_014874.4(MFN2):c.494A>G (p.His165Arg) rs863224970
NM_014874.4(MFN2):c.564C>T (p.Cys188=) rs536007087
NM_014874.4(MFN2):c.617C>T (p.Thr206Ile) rs119103266
NM_014874.4(MFN2):c.629A>G (p.Asp210Gly) rs1639043704
NM_014874.4(MFN2):c.720C>G (p.Phe240Leu) rs864622480
NM_014874.4(MFN2):c.827A>G (p.Gln276Arg) rs119103264
NM_014874.4(MFN2):c.839G>A (p.Arg280His) rs28940294
NM_014874.4(MFN2):c.898C>T (p.Arg300Cys) rs863224066
NM_021076.4(NEFH):c.883+1G>C rs1602961831
NM_021095.4(SLC5A6):c.1285A>G (p.Ser429Gly) rs2147992303
NM_021625.4(TRPV4):c.-92G>T rs906360195
NM_021625.5(TRPV4):c.*145C>T rs1889461810
NM_021625.5(TRPV4):c.*227A>G rs1889456342
NM_021625.5(TRPV4):c.*2G>A rs1889473862
NM_021625.5(TRPV4):c.*421G>A rs1010774371
NM_021625.5(TRPV4):c.*83C>G rs1360617913
NM_021625.5(TRPV4):c.-31-3C>T rs1891768935
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.1018_1019del (p.Lys340fs)
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.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.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.1153-6G>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.1175G>C (p.Arg392Pro) rs770364304
NM_021625.5(TRPV4):c.1178A>T (p.Glu393Val) rs1890421296
NM_021625.5(TRPV4):c.1191G>A (p.Glu397=)
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.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.1282G>A (p.Gly428Arg)
NM_021625.5(TRPV4):c.1283G>A (p.Gly428Glu) rs1890414210
NM_021625.5(TRPV4):c.1291G>A (p.Ala431Thr)
NM_021625.5(TRPV4):c.1292C>T (p.Ala431Val) rs2136502657
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.1345A>C (p.Met449Leu)
NM_021625.5(TRPV4):c.1349T>C (p.Leu450Pro)
NM_021625.5(TRPV4):c.1352C>T (p.Ala451Val) rs886048940
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.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.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.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.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.1492-9G>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.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.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.1570TTC[2] (p.Phe526del) rs1393630996
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.1590A>C (p.Lys530Asn)
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.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.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.1659-1G>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.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.171T>C (p.Pro57=) rs886048941
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.1771T>A (p.Tyr591Asn) rs1890124015
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+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.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.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+7T>C
NM_021625.5(TRPV4):c.1892-13T>A
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.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.2012T>C (p.Leu671Pro)
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.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.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.2199G>A (p.Trp733Ter)
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.2258G>A (p.Arg753Lys) rs1889714023
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.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>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.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.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.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.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.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.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.326A>G (p.Asp109Gly) rs1131691532
NM_021625.5(TRPV4):c.336C>A (p.Thr112=) rs969086736
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+1G>A rs1207379343
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.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.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.471C>T (p.Ile157=)
NM_021625.5(TRPV4):c.476C>A (p.Ser159Tyr)
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.51G>A (p.Glu17=)
NM_021625.5(TRPV4):c.524C>A (p.Thr175Asn)
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.549G>C (p.Glu183Asp) rs141908793
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln) rs397514494
NM_021625.5(TRPV4):c.559+10C>A
NM_021625.5(TRPV4):c.569C>T (p.Thr190Met) rs1031096826
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.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.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>A (p.Arg237Gln) rs1289139464
NM_021625.5(TRPV4):c.710G>T (p.Arg237Leu) rs1289139464
NM_021625.5(TRPV4):c.712+11G>A
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.733G>A (p.Ala245Thr) rs761829753
NM_021625.5(TRPV4):c.733G>T (p.Ala245Ser)
NM_021625.5(TRPV4):c.740_741del (p.Glu247fs)
NM_021625.5(TRPV4):c.745C>G (p.Arg249Gly)
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.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.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.797C>T (p.Ala266Val) rs1890720450
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.820C>T (p.Gln274Ter) rs1592842140
NM_021625.5(TRPV4):c.827A>C (p.Lys276Thr) rs1592842115
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.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.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.903C>G (p.Val301=) rs748103823
NM_021625.5(TRPV4):c.910C>T (p.Leu304=)
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.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
NM_022489.4(INF2):c.3247A>G (p.Ser1083Gly) rs1555375554
NM_138773.2(SLC25A46):c.1_1257del
NM_138773.4(SLC25A46):c.1005A>T (p.Glu335Asp) rs1057518748
NM_138773.4(SLC25A46):c.100A>G (p.Ser34Gly) rs1580850073
NM_138773.4(SLC25A46):c.1015C>T (p.His339Tyr) rs777283215
NM_138773.4(SLC25A46):c.1019G>C (p.Arg340Pro) rs1406148342
NM_138773.4(SLC25A46):c.1036A>G (p.Thr346Ala) rs1561610023
NM_138773.4(SLC25A46):c.1042A>T (p.Thr348Ser)
NM_138773.4(SLC25A46):c.1045A>G (p.Ile349Val) rs1800252268
NM_138773.4(SLC25A46):c.105C>T (p.Thr35=) rs1295091261
NM_138773.4(SLC25A46):c.106G>A (p.Gly36Arg) rs761259380
NM_138773.4(SLC25A46):c.106G>C (p.Gly36Arg)
NM_138773.4(SLC25A46):c.1070A>G (p.Tyr357Cys) rs1229680117
NM_138773.4(SLC25A46):c.1072G>C (p.Glu358Gln) rs977278982
NM_138773.4(SLC25A46):c.1078_1087dup (p.Asn363delinsThrSerAsnTer) rs1561610094
NM_138773.4(SLC25A46):c.1092A>C (p.Thr364=) rs1800253655
NM_138773.4(SLC25A46):c.1107G>A (p.Met369Ile) rs1019423413
NM_138773.4(SLC25A46):c.1113C>G (p.Asp371Glu)
NM_138773.4(SLC25A46):c.1125C>T (p.Thr375=) rs2150419387
NM_138773.4(SLC25A46):c.1134G>A (p.Gln378=) rs1164068029
NM_138773.4(SLC25A46):c.1134G>C (p.Gln378His) rs1164068029
NM_138773.4(SLC25A46):c.1135G>C (p.Glu379Gln) rs370880304
NM_138773.4(SLC25A46):c.1152T>C (p.Gly384=) rs2150419425
NM_138773.4(SLC25A46):c.115C>T (p.Leu39=)
NM_138773.4(SLC25A46):c.116T>C (p.Leu39Pro) rs2150404217
NM_138773.4(SLC25A46):c.1180A>G (p.Ile394Val)
NM_138773.4(SLC25A46):c.1190C>G (p.Thr397Arg) rs1342717502
NM_138773.4(SLC25A46):c.11_12insTG (p.Arg5fs) rs1064795772
NM_138773.4(SLC25A46):c.1200A>G (p.Ala400=) rs2150419453
NM_138773.4(SLC25A46):c.1203T>C (p.Ala401=) rs1580871216
NM_138773.4(SLC25A46):c.1213A>G (p.Ile405Val) rs1561610274
NM_138773.4(SLC25A46):c.1231T>C (p.Ser411Pro)
NM_138773.4(SLC25A46):c.1234A>G (p.Thr412Ala)
NM_138773.4(SLC25A46):c.123C>T (p.His41=)
NM_138773.4(SLC25A46):c.1247A>C (p.Asn416Thr) rs2150419511
NM_138773.4(SLC25A46):c.1250A>G (p.Asn417Ser)
NM_138773.4(SLC25A46):c.1254T>C (p.Ile418=)
NM_138773.4(SLC25A46):c.1256G>C (p.Ter419Ser) rs1365339601
NM_138773.4(SLC25A46):c.1257A>G (p.Ter419Trp) rs1800259229
NM_138773.4(SLC25A46):c.127G>A (p.Val43Met)
NM_138773.4(SLC25A46):c.134C>T (p.Thr45Ile) rs1554091122
NM_138773.4(SLC25A46):c.135T>C (p.Thr45=)
NM_138773.4(SLC25A46):c.13C>A (p.Arg5Ser) rs778529430
NM_138773.4(SLC25A46):c.146T>C (p.Ile49Thr)
NM_138773.4(SLC25A46):c.147C>A (p.Ile49=) rs145421520
NM_138773.4(SLC25A46):c.14G>T (p.Arg5Leu) rs1272997827
NM_138773.4(SLC25A46):c.158G>T (p.Arg53Leu) rs867841573
NM_138773.4(SLC25A46):c.160A>C (p.Asn54His)
NM_138773.4(SLC25A46):c.185_189del (p.Pro62fs) rs1799544883
NM_138773.4(SLC25A46):c.186G>T (p.Pro62=)
NM_138773.4(SLC25A46):c.18G>T (p.Pro6=)
NM_138773.4(SLC25A46):c.193_201dup (p.Gly65_Pro67dup) rs2150404461
NM_138773.4(SLC25A46):c.196G>T (p.Val66Leu) rs758140632
NM_138773.4(SLC25A46):c.198G>T (p.Val66=) rs761232447
NM_138773.4(SLC25A46):c.203C>G (p.Thr68Ser) rs763466158
NM_138773.4(SLC25A46):c.209C>G (p.Ser70Cys) rs904962071
NM_138773.4(SLC25A46):c.211A>G (p.Thr71Ala)
NM_138773.4(SLC25A46):c.239C>A (p.Pro80His) rs773343482
NM_138773.4(SLC25A46):c.241T>C (p.Phe81Leu) rs747086911
NM_138773.4(SLC25A46):c.247A>G (p.Ser83Gly) rs892374338
NM_138773.4(SLC25A46):c.273del (p.Gln92fs) rs1022269942
NM_138773.4(SLC25A46):c.283+15G>A
NM_138773.4(SLC25A46):c.283+17C>T
NM_138773.4(SLC25A46):c.283+9C>G
NM_138773.4(SLC25A46):c.284-11T>C rs2150408031
NM_138773.4(SLC25A46):c.284-16T>C
NM_138773.4(SLC25A46):c.284-3T>C rs770457308
NM_138773.4(SLC25A46):c.284-8dup rs559871816
NM_138773.4(SLC25A46):c.288G>A (p.Gln96=) rs2150408040
NM_138773.4(SLC25A46):c.303T>C (p.Ala101=)
NM_138773.4(SLC25A46):c.304G>T (p.Gly102Ter)
NM_138773.4(SLC25A46):c.313A>G (p.Ile105Val) rs768960064
NM_138773.4(SLC25A46):c.322G>A (p.Ala108Thr) rs766964934
NM_138773.4(SLC25A46):c.326+11A>G rs760216361
NM_138773.4(SLC25A46):c.327-19A>C
NM_138773.4(SLC25A46):c.327-2A>C
NM_138773.4(SLC25A46):c.32G>A (p.Gly11Asp) rs1187287545
NM_138773.4(SLC25A46):c.354T>A (p.His118Gln)
NM_138773.4(SLC25A46):c.354T>C (p.His118=) rs748251446
NM_138773.4(SLC25A46):c.356C>T (p.Pro119Leu) rs2150408930
NM_138773.4(SLC25A46):c.358T>C (p.Cys120Arg) rs1799746442
NM_138773.4(SLC25A46):c.359G>T (p.Cys120Phe) rs772344091
NM_138773.4(SLC25A46):c.361A>G (p.Ile121Val)
NM_138773.4(SLC25A46):c.384+4A>C rs755470887
NM_138773.4(SLC25A46):c.385-15A>G rs2150410313
NM_138773.4(SLC25A46):c.385-2A>T rs1799815535
NM_138773.4(SLC25A46):c.389A>C (p.Asn130Thr) rs1007822688
NM_138773.4(SLC25A46):c.398C>T (p.Ala133Val)
NM_138773.4(SLC25A46):c.3G>A (p.Met1Ile) rs1799527654
NM_138773.4(SLC25A46):c.402G>C (p.Gln134His) rs1799816585
NM_138773.4(SLC25A46):c.407A>G (p.Tyr136Cys) rs1799816715
NM_138773.4(SLC25A46):c.413T>G (p.Leu138Arg) rs1057519295
NM_138773.4(SLC25A46):c.426A>C (p.Thr142=) rs758691521
NM_138773.4(SLC25A46):c.426A>G (p.Thr142=)
NM_138773.4(SLC25A46):c.427G>A (p.Val143Ile) rs1554092069
NM_138773.4(SLC25A46):c.42C>T (p.Tyr14=)
NM_138773.4(SLC25A46):c.435T>C (p.Asn145=)
NM_138773.4(SLC25A46):c.439A>G (p.Met147Val)
NM_138773.4(SLC25A46):c.444C>T (p.Tyr148=)
NM_138773.4(SLC25A46):c.44G>A (p.Arg15Gln) rs372382932
NM_138773.4(SLC25A46):c.462+10T>C rs1580858938
NM_138773.4(SLC25A46):c.462+12G>T
NM_138773.4(SLC25A46):c.462+1G>A rs1799819389
NM_138773.4(SLC25A46):c.462+2T>C
NM_138773.4(SLC25A46):c.463-3del rs769567758
NM_138773.4(SLC25A46):c.468T>C (p.Pro156=) rs2150411201
NM_138773.4(SLC25A46):c.46G>T (p.Gly16Cys) rs770562376
NM_138773.4(SLC25A46):c.470G>C (p.Arg157Thr)
NM_138773.4(SLC25A46):c.479G>A (p.Trp160Ter) rs1561602892
NM_138773.4(SLC25A46):c.479G>C (p.Trp160Ser)
NM_138773.4(SLC25A46):c.47del (p.Gly16fs) rs1580849841
NM_138773.4(SLC25A46):c.489G>C (p.Met163Ile)
NM_138773.4(SLC25A46):c.48T>C (p.Gly16=) rs2150404063
NM_138773.4(SLC25A46):c.50G>A (p.Gly17Asp) rs1561595689
NM_138773.4(SLC25A46):c.54C>T (p.Ala18=)
NM_138773.4(SLC25A46):c.563+19C>A
NM_138773.4(SLC25A46):c.563+4C>A rs999030471
NM_138773.4(SLC25A46):c.563+7T>C
NM_138773.4(SLC25A46):c.56G>T (p.Arg19Leu)
NM_138773.4(SLC25A46):c.579A>T (p.Lys193Asn) rs1580866176
NM_138773.4(SLC25A46):c.597A>G (p.Ile199Met) rs924688251
NM_138773.4(SLC25A46):c.598_599dup (p.His202fs)
NM_138773.4(SLC25A46):c.59A>T (p.Asp20Val) rs1799533031
NM_138773.4(SLC25A46):c.601G>C (p.Glu201Gln) rs1390370205
NM_138773.4(SLC25A46):c.618del (p.Lys206fs) rs1371249361
NM_138773.4(SLC25A46):c.61G>A (p.Glu21Lys)
NM_138773.4(SLC25A46):c.620+15A>G
NM_138773.4(SLC25A46):c.620+18G>A
NM_138773.4(SLC25A46):c.620+19C>T
NM_138773.4(SLC25A46):c.620+1G>A
NM_138773.4(SLC25A46):c.620+2dup rs1409708415
NM_138773.4(SLC25A46):c.620+4_620+7del rs1580866253
NM_138773.4(SLC25A46):c.620C>A (p.Ser207Tyr) rs766116322
NM_138773.4(SLC25A46):c.621-13T>C
NM_138773.4(SLC25A46):c.621-16G>A
NM_138773.4(SLC25A46):c.621-17T>G
NM_138773.4(SLC25A46):c.621-5T>C
NM_138773.4(SLC25A46):c.63G>T (p.Glu21Asp) rs1561595734
NM_138773.4(SLC25A46):c.640A>G (p.Met214Val)
NM_138773.4(SLC25A46):c.665T>C (p.Ile222Thr)
NM_138773.4(SLC25A46):c.670A>G (p.Thr224Ala)
NM_138773.4(SLC25A46):c.674T>G (p.Val225Gly)
NM_138773.4(SLC25A46):c.678+10T>C rs760016782
NM_138773.4(SLC25A46):c.678+10T>G
NM_138773.4(SLC25A46):c.678+14del
NM_138773.4(SLC25A46):c.678+14dup rs539229853
NM_138773.4(SLC25A46):c.678+20C>T
NM_138773.4(SLC25A46):c.678+3G>A rs1580867186
NM_138773.4(SLC25A46):c.679-16A>G
NM_138773.4(SLC25A46):c.679-17C>T rs1392231722
NM_138773.4(SLC25A46):c.679-1G>A rs1800238919
NM_138773.4(SLC25A46):c.679-8dup rs751152278
NM_138773.4(SLC25A46):c.699T>A (p.Asn233Lys)
NM_138773.4(SLC25A46):c.702T>C (p.Thr234=) rs1183572047
NM_138773.4(SLC25A46):c.709T>C (p.Leu237=)
NM_138773.4(SLC25A46):c.717T>C (p.Cys239=)
NM_138773.4(SLC25A46):c.722A>C (p.Lys241Thr) rs2150419004
NM_138773.4(SLC25A46):c.736A>T (p.Arg246Ter) rs1554093168
NM_138773.4(SLC25A46):c.741G>A (p.Val247=) rs1800241437
NM_138773.4(SLC25A46):c.75C>A (p.Gly25=)
NM_138773.4(SLC25A46):c.762T>C (p.His254=)
NM_138773.4(SLC25A46):c.764G>C (p.Ser255Thr)
NM_138773.4(SLC25A46):c.770G>A (p.Arg257Gln) rs1184021143
NM_138773.4(SLC25A46):c.780G>T (p.Pro260=) rs766154121
NM_138773.4(SLC25A46):c.78C>T (p.Gly26=) rs2150404110
NM_138773.4(SLC25A46):c.798C>A (p.Phe266Leu) rs1800243883
NM_138773.4(SLC25A46):c.799_800dup (p.Thr268fs) rs1800243948
NM_138773.4(SLC25A46):c.803C>T (p.Thr268Met) rs751900293
NM_138773.4(SLC25A46):c.813T>C (p.His271=)
NM_138773.4(SLC25A46):c.816A>T (p.Gly272=)
NM_138773.4(SLC25A46):c.848A>C (p.Gln283Pro) rs2150419144
NM_138773.4(SLC25A46):c.84C>G (p.Phe28Leu) rs1460019948
NM_138773.4(SLC25A46):c.859C>T (p.Leu287=)
NM_138773.4(SLC25A46):c.864_866dup (p.Ile289dup) rs1800246194
NM_138773.4(SLC25A46):c.870A>C (p.Leu290=) rs372999666
NM_138773.4(SLC25A46):c.870A>G (p.Leu290=)
NM_138773.4(SLC25A46):c.878A>T (p.Lys293Met) rs1800246681
NM_138773.4(SLC25A46):c.879G>C (p.Lys293Asn) rs1800246744
NM_138773.4(SLC25A46):c.892C>T (p.His298Tyr)
NM_138773.4(SLC25A46):c.903G>C (p.Glu301Asp) rs2150419215
NM_138773.4(SLC25A46):c.927G>T (p.Met309Ile) rs777447707
NM_138773.4(SLC25A46):c.928T>C (p.Leu310=) rs1800248230
NM_138773.4(SLC25A46):c.92G>A (p.Arg31Lys)
NM_138773.4(SLC25A46):c.931G>A (p.Asp311Asn) rs894545180
NM_138773.4(SLC25A46):c.938_940del (p.Tyr313del) rs374899270
NM_138773.4(SLC25A46):c.938_940dup (p.Tyr313dup) rs374899270
NM_138773.4(SLC25A46):c.939T>C (p.Tyr313=) rs1188835273
NM_138773.4(SLC25A46):c.93G>C (p.Arg31Ser) rs2150404149
NM_138773.4(SLC25A46):c.945A>C (p.Pro315=)
NM_138773.4(SLC25A46):c.946G>A (p.Glu316Lys) rs2150419254
NM_138773.4(SLC25A46):c.953T>C (p.Ile318Thr) rs201858314
NM_138773.4(SLC25A46):c.955G>C (p.Ala319Pro) rs1390567933
NM_138773.4(SLC25A46):c.960C>A (p.Asn320Lys) rs1800249439
NM_138773.4(SLC25A46):c.965C>G (p.Ala322Gly)
NM_138773.4(SLC25A46):c.96C>T (p.Ser32=)
NM_138773.4(SLC25A46):c.984C>T (p.Asp328=)
NM_138773.4(SLC25A46):c.992T>C (p.Leu331Pro) rs1580870952
NM_138773.4(SLC25A46):c.996C>G (p.Tyr332Ter) rs530045841
NM_138773.4(SLC25A46):c.999A>G (p.Pro333=)
NM_138773.4(SLC25A46):c.9G>A (p.Pro3=)
NM_138773.4(SLC25A46):c.9GCG[1] (p.Arg5del) rs2150403955
NM_152269.5(MTRFR):c.18_21del (p.Leu6fs) rs2138792385
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657

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