ClinVar Miner

List of variants in gene TRPM4 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 613
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HGVS dbSNP gnomAD frequency
NM_017636.4(TRPM4):c.3329-99G>A rs76193804 0.03361
NM_017636.4(TRPM4):c.2934T>C (p.Ile978=) rs35516880 0.02629
NM_017636.4(TRPM4):c.1050+13_1050+16dup rs137898843 0.02485
NM_017636.4(TRPM4):c.449-10G>A rs78444754 0.02013
NM_017636.4(TRPM4):c.783G>A (p.Lys261=) rs111930830 0.01836
NM_017636.4(TRPM4):c.613-39C>T rs113159745 0.01789
NM_017636.4(TRPM4):c.3641-19C>G rs7256050 0.01753
NM_017636.4(TRPM4):c.3131+280G>A rs117646304 0.01543
NM_017636.4(TRPM4):c.1743+246G>T rs148189030 0.01400
NM_017636.4(TRPM4):c.1150+91C>T rs74599428 0.01397
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) rs79286201 0.01125
NM_017636.4(TRPM4):c.3131+55T>G rs77308325 0.01124
NM_017636.4(TRPM4):c.322C>T (p.Arg108Cys) rs115335683 0.01074
NM_017636.4(TRPM4):c.1263+216G>A rs111390774 0.01029
NM_017636.4(TRPM4):c.448+6C>T rs78051297 0.01005
NM_017636.4(TRPM4):c.2132+174T>C rs1175794 0.00949
NM_017636.4(TRPM4):c.2953+15G>A rs115274216 0.00850
NM_017636.4(TRPM4):c.2619C>T (p.Thr873=) rs144544237 0.00790
NM_017636.4(TRPM4):c.1609-38G>A rs202075105 0.00754
NM_017636.4(TRPM4):c.*80C>T rs75615609 0.00737
NM_017636.4(TRPM4):c.3131+72C>T rs1175811 0.00680
NM_017636.4(TRPM4):c.301G>A (p.Ala101Thr) rs113984787 0.00662
NM_017636.4(TRPM4):c.306T>G (p.Val102=) rs111783027 0.00662
NM_017636.3(TRPM4):c.-262C>T rs113537559 0.00641
NM_017636.4(TRPM4):c.3131+110C>A rs116768201 0.00580
NM_017636.4(TRPM4):c.3132-63C>A rs115212832 0.00573
NM_017636.4(TRPM4):c.859-64T>C rs112651228 0.00475
NM_017636.4(TRPM4):c.755G>A (p.Arg252His) rs146564314 0.00453
NM_017636.4(TRPM4):c.797-161A>G rs189032486 0.00439
NM_017636.4(TRPM4):c.1151-338A>G rs181165158 0.00435
NM_017636.4(TRPM4):c.618G>A (p.Ser206=) rs142788545 0.00422
NM_017636.4(TRPM4):c.2646-190A>C rs73576319 0.00416
NM_017636.4(TRPM4):c.267+97C>T rs536897053 0.00396
NM_017636.4(TRPM4):c.870C>T (p.Asn290=) rs141997826 0.00389
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369 0.00373
NM_017636.4(TRPM4):c.449-14C>T rs112328642 0.00356
NM_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 0.00310
NM_017636.4(TRPM4):c.1368C>G (p.Thr456=) rs56118173 0.00274
NM_017636.4(TRPM4):c.3427A>G (p.Ser1143Gly) rs138603244 0.00198
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 0.00168
NM_017636.4(TRPM4):c.2209G>A (p.Gly737Arg) rs145847114 0.00165
NM_017636.4(TRPM4):c.1873+13C>G rs184297107 0.00154
NM_017636.4(TRPM4):c.2953+46C>G rs201495545 0.00130
NM_017636.4(TRPM4):c.988G>A (p.Glu330Lys) rs145771389 0.00118
NM_017636.4(TRPM4):c.1164G>A (p.Ser388=) rs144201184 0.00095
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936 0.00094
NM_017636.4(TRPM4):c.1376G>A (p.Arg459His) rs142312281 0.00086
NM_017636.4(TRPM4):c.2561A>G (p.Gln854Arg) rs172155862 0.00078
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
NM_017636.4(TRPM4):c.2534C>T (p.Pro845Leu) rs374003036 0.00057
NM_017636.4(TRPM4):c.3641-17T>G rs369065473 0.00053
NM_017636.4(TRPM4):c.858+51A>G rs150333519 0.00051
NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys) rs147854826 0.00047
NM_017636.4(TRPM4):c.342C>G (p.Ala114=) rs144434701 0.00045
NM_017636.4(TRPM4):c.2254C>T (p.Gln752Ter) rs769917929 0.00041
NM_017636.4(TRPM4):c.308A>G (p.Tyr103Cys) rs144781529 0.00041
NM_017636.4(TRPM4):c.1242T>C (p.Phe414=) rs200633475 0.00031
NM_017636.4(TRPM4):c.385G>A (p.Val129Ile) rs372299022 0.00026
NM_017636.4(TRPM4):c.566C>T (p.Ala189Val) rs145501662 0.00024
NM_017636.4(TRPM4):c.1836G>A (p.Arg612=) rs112589404 0.00023
NM_017636.4(TRPM4):c.1119C>A (p.Phe373Leu) rs141531245 0.00022
NM_017636.4(TRPM4):c.1494C>T (p.Leu498=) rs150314975 0.00022
NM_017636.4(TRPM4):c.748C>T (p.Arg250Cys) rs144208673 0.00021
NM_017636.4(TRPM4):c.1874-9C>T rs199805560 0.00020
NM_017636.4(TRPM4):c.1082T>G (p.Leu361Arg) rs148763371 0.00019
NM_017636.4(TRPM4):c.2156G>A (p.Arg719Gln) rs78381230 0.00018
NM_017636.4(TRPM4):c.1380G>C (p.Leu460=) rs145755269 0.00016
NM_017636.4(TRPM4):c.2535C>G (p.Pro845=) rs560849729 0.00015
NM_017636.4(TRPM4):c.3329-14G>C rs777092081 0.00014
NM_017636.4(TRPM4):c.742C>T (p.Arg248Cys) rs373749900 0.00014
NM_017636.4(TRPM4):c.796+16C>G rs779490161 0.00014
NM_017636.4(TRPM4):c.24+6C>G rs767900879 0.00013
NM_017636.4(TRPM4):c.2887C>T (p.Leu963=) rs368553372 0.00013
NM_017636.4(TRPM4):c.3073G>A (p.Val1025Ile) rs186822052 0.00012
NM_017636.4(TRPM4):c.2954-11T>C rs774806552 0.00011
NM_017636.4(TRPM4):c.1150+15C>G rs368936434 0.00010
NM_017636.4(TRPM4):c.165A>G (p.Ala55=) rs376808923 0.00009
NM_017636.4(TRPM4):c.2133-9C>G rs530013543 0.00009
NM_017636.4(TRPM4):c.81C>T (p.Ser27=) rs372942488 0.00009
NM_017636.4(TRPM4):c.1986C>T (p.Asp662=) rs111352880 0.00008
NM_017636.4(TRPM4):c.2020-4A>C rs369498574 0.00008
NM_017636.4(TRPM4):c.2085C>T (p.Leu695=) rs781191851 0.00008
NM_017636.4(TRPM4):c.286C>T (p.Arg96Ter) rs148855956 0.00008
NM_017636.4(TRPM4):c.2361G>A (p.Val787=) rs367649770 0.00007
NM_017636.4(TRPM4):c.2508C>T (p.Gly836=) rs750999263 0.00007
NM_017636.4(TRPM4):c.2761G>A (p.Val921Ile) rs377359117 0.00007
NM_017636.4(TRPM4):c.2779-5C>T rs374639233 0.00007
NM_017636.4(TRPM4):c.483C>T (p.Gly161=) rs147157308 0.00007
NM_017636.4(TRPM4):c.711C>T (p.Asp237=) rs368170336 0.00007
NM_017636.4(TRPM4):c.246G>T (p.Gly82=) rs756668921 0.00006
NM_017636.4(TRPM4):c.25-10C>T rs369312031 0.00006
NM_017636.4(TRPM4):c.3304T>G (p.Ser1102Ala) rs759574423 0.00006
NM_017636.4(TRPM4):c.3461+13C>T rs962975216 0.00006
NM_017636.4(TRPM4):c.613-15C>G rs777041419 0.00006
NM_017636.4(TRPM4):c.796+11G>A rs771685892 0.00006
NM_017636.4(TRPM4):c.1873+4C>T rs746766318 0.00005
NM_017636.4(TRPM4):c.24+7G>A rs960522960 0.00005
NM_017636.4(TRPM4):c.268-19C>T rs377765533 0.00005
NM_017636.4(TRPM4):c.2712G>T (p.Val904=) rs143447932 0.00005
NM_017636.4(TRPM4):c.3461A>G (p.Lys1154Arg) rs141327522 0.00005
NM_017636.4(TRPM4):c.657C>T (p.Asp219=) rs373953725 0.00005
NM_017636.4(TRPM4):c.1552A>G (p.Arg518Gly) rs764043350 0.00004
NM_017636.4(TRPM4):c.1873+17G>T rs770909729 0.00004
NM_017636.4(TRPM4):c.1881T>C (p.Phe627=) rs370955929 0.00004
NM_017636.4(TRPM4):c.2020-8C>T rs200820404 0.00004
NM_017636.4(TRPM4):c.240C>T (p.Phe80=) rs563344549 0.00004
NM_017636.4(TRPM4):c.2502C>G (p.Ser834Arg) rs749938388 0.00004
NM_017636.4(TRPM4):c.2629C>T (p.Leu877=) rs769392495 0.00004
NM_017636.4(TRPM4):c.2778+17G>A rs779553209 0.00004
NM_017636.4(TRPM4):c.2811C>T (p.Leu937=) rs769620861 0.00004
NM_017636.4(TRPM4):c.2937C>G (p.Pro979=) rs142981405 0.00004
NM_017636.4(TRPM4):c.3012T>C (p.Pro1004=) rs76139110 0.00004
NM_017636.4(TRPM4):c.3072C>T (p.Leu1024=) rs200819970 0.00004
NM_017636.4(TRPM4):c.3329-13C>T rs375436708 0.00004
NM_017636.4(TRPM4):c.3570C>G (p.Ala1190=) rs370370315 0.00004
NM_017636.4(TRPM4):c.498T>A (p.Val166=) rs760128802 0.00004
NM_017636.4(TRPM4):c.878A>G (p.Gln293Arg) rs172147855 0.00004
NM_017636.4(TRPM4):c.936G>A (p.Ala312=) rs577738761 0.00004
NM_017636.4(TRPM4):c.987C>T (p.Gly329=) rs760136632 0.00004
NM_017636.4(TRPM4):c.1272T>C (p.His424=) rs565797767 0.00003
NM_017636.4(TRPM4):c.12G>A (p.Pro4=) rs1403043676 0.00003
NM_017636.4(TRPM4):c.159C>T (p.Phe53=) rs752695139 0.00003
NM_017636.4(TRPM4):c.2132+19G>T rs559176232 0.00003
NM_017636.4(TRPM4):c.2208C>T (p.Val736=) rs139307985 0.00003
NM_017636.4(TRPM4):c.2527G>C (p.Gly843Arg) rs376922318 0.00003
NM_017636.4(TRPM4):c.267+10G>A rs761623192 0.00003
NM_017636.4(TRPM4):c.2769G>A (p.Val923=) rs1038658420 0.00003
NM_017636.4(TRPM4):c.2778+18C>G rs746536357 0.00003
NM_017636.4(TRPM4):c.3315C>A (p.Ala1105=) rs982072766 0.00003
NM_017636.4(TRPM4):c.3443T>C (p.Leu1148Pro) rs748665739 0.00003
NM_017636.4(TRPM4):c.3450C>T (p.Arg1150=) rs763372824 0.00003
NM_017636.4(TRPM4):c.345G>A (p.Pro115=) rs750991001 0.00003
NM_017636.4(TRPM4):c.3624C>T (p.Asp1208=) rs774276946 0.00003
NM_017636.4(TRPM4):c.582C>A (p.Val194=) rs914389404 0.00003
NM_017636.4(TRPM4):c.92+12G>C rs377431946 0.00003
NM_017636.4(TRPM4):c.1050+10T>A rs760369409 0.00002
NM_017636.4(TRPM4):c.1293C>T (p.Asp431=) rs374377989 0.00002
NM_017636.4(TRPM4):c.1442C>G (p.Ser481Cys) rs200246268 0.00002
NM_017636.4(TRPM4):c.1609-12T>G rs769802074 0.00002
NM_017636.4(TRPM4):c.1743+17C>T rs546621128 0.00002
NM_017636.4(TRPM4):c.1869C>A (p.Gly623=) rs758295164 0.00002
NM_017636.4(TRPM4):c.2210+10G>T rs773312067 0.00002
NM_017636.4(TRPM4):c.2260G>C (p.Gly754Arg) rs763447325 0.00002
NM_017636.4(TRPM4):c.24+15A>G rs1256581057 0.00002
NM_017636.4(TRPM4):c.268-18G>A rs767655791 0.00002
NM_017636.4(TRPM4):c.2733G>A (p.Thr911=) rs756464554 0.00002
NM_017636.4(TRPM4):c.2953+16G>A rs376823658 0.00002
NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp) rs567938424 0.00002
NM_017636.4(TRPM4):c.3630T>G (p.Pro1210=) rs1414641204 0.00002
NM_017636.4(TRPM4):c.93-13C>T rs184132069 0.00002
NM_017636.4(TRPM4):c.1150+9T>A rs1329402678 0.00001
NM_017636.4(TRPM4):c.1215C>T (p.Arg405=) rs140069078 0.00001
NM_017636.4(TRPM4):c.1275C>T (p.Leu425=) rs767677637 0.00001
NM_017636.4(TRPM4):c.1323G>T (p.Val441=) rs376042470 0.00001
NM_017636.4(TRPM4):c.1464C>A (p.Ala488=) rs763238302 0.00001
NM_017636.4(TRPM4):c.1473A>G (p.Leu491=) rs142739227 0.00001
NM_017636.4(TRPM4):c.1488G>A (p.Ala496=) rs1371428909 0.00001
NM_017636.4(TRPM4):c.1515T>A (p.His505Gln) rs1202211366 0.00001
NM_017636.4(TRPM4):c.1569C>T (p.Gly523=) rs751825185 0.00001
NM_017636.4(TRPM4):c.168C>T (p.Ala56=) rs371192886 0.00001
NM_017636.4(TRPM4):c.1803C>G (p.Arg601=) rs528980972 0.00001
NM_017636.4(TRPM4):c.1893T>C (p.Tyr631=) rs765927799 0.00001
NM_017636.4(TRPM4):c.2019+12C>T rs773790158 0.00001
NM_017636.4(TRPM4):c.2136A>G (p.Lys712=) rs368500945 0.00001
NM_017636.4(TRPM4):c.216C>T (p.Thr72=) rs767155832 0.00001
NM_017636.4(TRPM4):c.2202G>A (p.Gly734=) rs758825171 0.00001
NM_017636.4(TRPM4):c.2205T>C (p.Pro735=) rs200681329 0.00001
NM_017636.4(TRPM4):c.2211-14C>G rs777552228 0.00001
NM_017636.4(TRPM4):c.2211-5C>A rs749307006 0.00001
NM_017636.4(TRPM4):c.2229G>A (p.Glu743=) rs745667706 0.00001
NM_017636.4(TRPM4):c.2231A>T (p.Lys744Met) rs569301210 0.00001
NM_017636.4(TRPM4):c.2264G>A (p.Arg755His) rs751903628 0.00001
NM_017636.4(TRPM4):c.2403G>T (p.Leu801=) rs1455410186 0.00001
NM_017636.4(TRPM4):c.2436C>T (p.Ser812=) rs866940489 0.00001
NM_017636.4(TRPM4):c.2583C>T (p.Ala861=) rs1472609688 0.00001
NM_017636.4(TRPM4):c.2754C>G (p.Pro918=) rs202245171 0.00001
NM_017636.4(TRPM4):c.2779-13C>T rs200088533 0.00001
NM_017636.4(TRPM4):c.2779-8C>T rs921128397 0.00001
NM_017636.4(TRPM4):c.2787C>T (p.Asp929=) rs1189590755 0.00001
NM_017636.4(TRPM4):c.2838G>C (p.Val946=) rs1214063137 0.00001
NM_017636.4(TRPM4):c.2844G>A (p.Thr948=) rs1251283940 0.00001
NM_017636.4(TRPM4):c.2895C>T (p.Arg965=) rs1271791433 0.00001
NM_017636.4(TRPM4):c.2916G>T (p.Leu972=) rs776638435 0.00001
NM_017636.4(TRPM4):c.291G>A (p.Thr97=) rs886054576 0.00001
NM_017636.4(TRPM4):c.2985G>A (p.Ser995=) rs570481382 0.00001
NM_017636.4(TRPM4):c.3039C>A (p.Ser1013=) rs775205786 0.00001
NM_017636.4(TRPM4):c.3093C>A (p.Ala1031=) rs140474062 0.00001
NM_017636.4(TRPM4):c.321A>G (p.Thr107=) rs890603756 0.00001
NM_017636.4(TRPM4):c.3328+12G>T rs778397467 0.00001
NM_017636.4(TRPM4):c.3361C>T (p.Leu1121=) rs746156917 0.00001
NM_017636.4(TRPM4):c.3364C>T (p.Leu1122=) rs772268692 0.00001
NM_017636.4(TRPM4):c.3369G>T (p.Thr1123=) rs747058283 0.00001
NM_017636.4(TRPM4):c.3461+19C>A rs1417297708 0.00001
NM_017636.4(TRPM4):c.3462-7T>G rs771356800 0.00001
NM_017636.4(TRPM4):c.3462-8C>T rs1354779106 0.00001
NM_017636.4(TRPM4):c.3462-9C>A rs949586177 0.00001
NM_017636.4(TRPM4):c.3489A>G (p.Gly1163=) rs760190293 0.00001
NM_017636.4(TRPM4):c.3498C>T (p.Arg1166=) rs753714695 0.00001
NM_017636.4(TRPM4):c.3535-19C>T rs767649286 0.00001
NM_017636.4(TRPM4):c.3535-4G>T rs756403480 0.00001
NM_017636.4(TRPM4):c.354G>C (p.Val118=) rs566463803 0.00001
NM_017636.4(TRPM4):c.357G>T (p.Val119=) rs780610132 0.00001
NM_017636.4(TRPM4):c.3644G>A (p.Ter1215=) rs1969370074 0.00001
NM_017636.4(TRPM4):c.384C>T (p.Pro128=) rs749254606 0.00001
NM_017636.4(TRPM4):c.448+20G>T rs1467431727 0.00001
NM_017636.4(TRPM4):c.449-11C>T rs1480614224 0.00001
NM_017636.4(TRPM4):c.594C>T (p.Asp198=) rs754829542 0.00001
NM_017636.4(TRPM4):c.600C>G (p.Leu200=) rs373432937 0.00001
NM_017636.4(TRPM4):c.613-5C>T rs747796161 0.00001
NM_017636.4(TRPM4):c.642C>T (p.Arg214=) rs755866022 0.00001
NM_017636.4(TRPM4):c.651G>A (p.Pro217=) rs758473371 0.00001
NM_017636.4(TRPM4):c.658G>A (p.Gly220Arg) rs1161880335 0.00001
NM_017636.4(TRPM4):c.687C>T (p.Tyr229=) rs770073838 0.00001
NM_017636.4(TRPM4):c.727C>T (p.Leu243=) rs374116861 0.00001
NM_017636.4(TRPM4):c.735C>T (p.Gly245=) rs555320255 0.00001
NM_017636.4(TRPM4):c.837T>C (p.Asp279=) rs373391017 0.00001
NM_017636.4(TRPM4):c.858+11C>T rs891211634 0.00001
NM_017636.4(TRPM4):c.858+13G>A rs1004303871 0.00001
NM_017636.4(TRPM4):c.92+17T>C rs754685981 0.00001
NM_017636.4(TRPM4):c.956_958del (p.Leu319_Ala320delinsPro) rs764918057 0.00001
NM_017636.4(TRPM4):c.984A>G (p.Gln328=) rs752367612 0.00001
NC_000019.9:g.(?_49661114)_(49675375_?)dup
NM_017636.4(TRPM4):c.100T>C (p.Leu34=)
NM_017636.4(TRPM4):c.1020C>T (p.Pro340=)
NM_017636.4(TRPM4):c.1050+11G>C rs2122836589
NM_017636.4(TRPM4):c.1050+15G>C
NM_017636.4(TRPM4):c.1050+15G>T
NM_017636.4(TRPM4):c.1050+16_1050+17insTGGC
NM_017636.4(TRPM4):c.1050+7C>A
NM_017636.4(TRPM4):c.1051-14del
NM_017636.4(TRPM4):c.1051-15C>A
NM_017636.4(TRPM4):c.1051-18G>A
NM_017636.4(TRPM4):c.1051-18G>C
NM_017636.4(TRPM4):c.1113G>A (p.Glu371=) rs2122839271
NM_017636.4(TRPM4):c.1119C>T (p.Phe373=) rs141531245
NM_017636.4(TRPM4):c.1137G>A (p.Lys379=)
NM_017636.4(TRPM4):c.1140C>T (p.Ala380=)
NM_017636.4(TRPM4):c.1150+13C>A
NM_017636.4(TRPM4):c.1150+15C>T
NM_017636.4(TRPM4):c.1150+9T>G
NM_017636.4(TRPM4):c.1167G>A (p.Glu389=) rs2122913799
NM_017636.4(TRPM4):c.117C>G (p.Arg39=)
NM_017636.4(TRPM4):c.117C>T (p.Arg39=)
NM_017636.4(TRPM4):c.1182G>A (p.Leu394=)
NM_017636.4(TRPM4):c.1189C>T (p.Leu397=)
NM_017636.4(TRPM4):c.1191G>A (p.Leu397=)
NM_017636.4(TRPM4):c.1191G>C (p.Leu397=)
NM_017636.4(TRPM4):c.1191G>T (p.Leu397=)
NM_017636.4(TRPM4):c.1212C>T (p.Asn404=) rs755499876
NM_017636.4(TRPM4):c.1257A>G (p.Gln419=)
NM_017636.4(TRPM4):c.1263+86_1263+90dup rs35727661
NM_017636.4(TRPM4):c.1263+87_1263+90dup rs35727661
NM_017636.4(TRPM4):c.1263+90dup rs35727661
NM_017636.4(TRPM4):c.1264-126CCAT[10] rs61258103
NM_017636.4(TRPM4):c.1264-126CCAT[13] rs61258103
NM_017636.4(TRPM4):c.1264-126CCAT[14] rs61258103
NM_017636.4(TRPM4):c.1264-126CCAT[9] rs61258103
NM_017636.4(TRPM4):c.1264-141CATC[2] rs1226405360
NM_017636.4(TRPM4):c.1264-141CATC[4] rs1226405360
NM_017636.4(TRPM4):c.1264-223TCCA[11] rs71180605
NM_017636.4(TRPM4):c.1264-323TCCA[5] rs1389264034
NM_017636.4(TRPM4):c.1264-330_1264-329insTGTCCATC rs1555755587
NM_017636.4(TRPM4):c.126C>T (p.Thr42=)
NM_017636.4(TRPM4):c.12G>C (p.Pro4=)
NM_017636.4(TRPM4):c.12G>T (p.Pro4=)
NM_017636.4(TRPM4):c.1302G>A (p.Leu434=)
NM_017636.4(TRPM4):c.1311G>A (p.Arg437=) rs1159391285
NM_017636.4(TRPM4):c.1320C>T (p.Phe440=)
NM_017636.4(TRPM4):c.1332C>T (p.Leu444=) rs1229281209
NM_017636.4(TRPM4):c.1335T>C (p.Ile445=)
NM_017636.4(TRPM4):c.1341C>T (p.His447=)
NM_017636.4(TRPM4):c.1353G>A (p.Leu451=)
NM_017636.4(TRPM4):c.1356C>T (p.Gly452=)
NM_017636.4(TRPM4):c.135C>T (p.Pro45=)
NM_017636.4(TRPM4):c.1363C>T (p.Leu455=) rs2122934427
NM_017636.4(TRPM4):c.1365G>C (p.Leu455=) rs1220233046
NM_017636.4(TRPM4):c.1368C>A (p.Thr456=)
NM_017636.4(TRPM4):c.1371G>A (p.Pro457=) rs1060504645
NM_017636.4(TRPM4):c.1371G>T (p.Pro457=) rs1060504645
NM_017636.4(TRPM4):c.1380G>T (p.Leu460=) rs145755269
NM_017636.4(TRPM4):c.1386A>G (p.Gln462=)
NM_017636.4(TRPM4):c.1392C>T (p.Tyr464=)
NM_017636.4(TRPM4):c.1401G>A (p.Ala467=) rs2122935057
NM_017636.4(TRPM4):c.1419C>T (p.Ile473=)
NM_017636.4(TRPM4):c.1443C>A (p.Ser481=) rs1168011176
NM_017636.4(TRPM4):c.1443C>G (p.Ser481=)
NM_017636.4(TRPM4):c.144C>T (p.Ala48=)
NM_017636.4(TRPM4):c.1458C>A (p.Thr486=)
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del) rs878855029
NM_017636.4(TRPM4):c.1470C>T (p.Ala490=)
NM_017636.4(TRPM4):c.1497G>A (p.Arg499=)
NM_017636.4(TRPM4):c.1500C>T (p.Pro500=)
NM_017636.4(TRPM4):c.1518G>C (p.Val506=)
NM_017636.4(TRPM4):c.1566G>A (p.Gly522=) rs1968042908
NM_017636.4(TRPM4):c.1574G>A (p.Trp525Ter)
NM_017636.4(TRPM4):c.1608+10G>A rs1362028143
NM_017636.4(TRPM4):c.1608+10G>T rs1362028143
NM_017636.4(TRPM4):c.1608+11G>A
NM_017636.4(TRPM4):c.1608+25_1608+26insAGGGGGG rs869079125
NM_017636.4(TRPM4):c.1609-10T>C
NM_017636.4(TRPM4):c.1609-13C>G
NM_017636.4(TRPM4):c.1609-15dup
NM_017636.4(TRPM4):c.1609-16C>T
NM_017636.4(TRPM4):c.1609-18C>T rs2122939655
NM_017636.4(TRPM4):c.1609-20A>T
NM_017636.4(TRPM4):c.1620C>T (p.Leu540=) rs1036771915
NM_017636.4(TRPM4):c.1665G>A (p.Gly555=) rs1459775430
NM_017636.4(TRPM4):c.1668G>A (p.Gln556=)
NM_017636.4(TRPM4):c.1710C>T (p.Asn570=) rs1600462441
NM_017636.4(TRPM4):c.1743+13T>G
NM_017636.4(TRPM4):c.1743+19C>G rs771470369
NM_017636.4(TRPM4):c.1743+19C>T
NM_017636.4(TRPM4):c.1743+224G>A rs143965446
NM_017636.4(TRPM4):c.1744-14C>T
NM_017636.4(TRPM4):c.1758T>G (p.Val586=)
NM_017636.4(TRPM4):c.1759T>G (p.Ser587Ala)
NM_017636.4(TRPM4):c.1785G>A (p.Leu595=)
NM_017636.4(TRPM4):c.1834A>C (p.Arg612=)
NM_017636.4(TRPM4):c.1843C>T (p.Leu615=) rs532994978
NM_017636.4(TRPM4):c.1848G>A (p.Ala616=)
NM_017636.4(TRPM4):c.1863G>C (p.Gly621=)
NM_017636.4(TRPM4):c.1869C>T (p.Gly623=)
NM_017636.4(TRPM4):c.1873+17G>A
NM_017636.4(TRPM4):c.1874-11C>A
NM_017636.4(TRPM4):c.1874-20A>G
NM_017636.4(TRPM4):c.1874-6C>T
NM_017636.4(TRPM4):c.1874-7G>A
NM_017636.4(TRPM4):c.1874-9C>A
NM_017636.4(TRPM4):c.1884C>T (p.Gly628=)
NM_017636.4(TRPM4):c.189C>T (p.Ser63=)
NM_017636.4(TRPM4):c.18G>A (p.Lys6=) rs2122723185
NM_017636.4(TRPM4):c.1902T>C (p.Ser634=)
NM_017636.4(TRPM4):c.1908G>C (p.Val636=) rs950364050
NM_017636.4(TRPM4):c.1941G>A (p.Pro647=) rs779169668
NM_017636.4(TRPM4):c.1944C>A (p.Leu648=)
NM_017636.4(TRPM4):c.1944C>G (p.Leu648=) rs1968308985
NM_017636.4(TRPM4):c.1950G>A (p.Gly650=)
NM_017636.4(TRPM4):c.1953T>C (p.Asp651=) rs935764046
NM_017636.4(TRPM4):c.1971G>A (p.Leu657=) rs1555757521
NM_017636.4(TRPM4):c.198C>T (p.His66=)
NM_017636.4(TRPM4):c.2010T>C (p.Asp670=)
NM_017636.4(TRPM4):c.2020-10C>T
NM_017636.4(TRPM4):c.2020-117G>T rs7256621
NM_017636.4(TRPM4):c.2020-13C>T rs1325493673
NM_017636.4(TRPM4):c.2020-18C>A
NM_017636.4(TRPM4):c.2020-18C>T
NM_017636.4(TRPM4):c.2020-5C>A
NM_017636.4(TRPM4):c.2020-5C>G
NM_017636.4(TRPM4):c.2028G>A (p.Leu676=)
NM_017636.4(TRPM4):c.2055C>G (p.Ala685=)
NM_017636.4(TRPM4):c.2076C>A (p.Ala692=)
NM_017636.4(TRPM4):c.2076C>T (p.Ala692=) rs2122994481
NM_017636.4(TRPM4):c.2098C>A (p.Pro700Thr)
NM_017636.4(TRPM4):c.2112C>T (p.Tyr704=)
NM_017636.4(TRPM4):c.2130C>T (p.Phe710=)
NM_017636.4(TRPM4):c.2132+17G>A
NM_017636.4(TRPM4):c.2132+5G>A rs368773450
NM_017636.4(TRPM4):c.2133-11C>G
NM_017636.4(TRPM4):c.2133-19G>A
NM_017636.4(TRPM4):c.2133-5G>A rs762827140
NM_017636.4(TRPM4):c.2133-5G>T
NM_017636.4(TRPM4):c.2154A>C (p.Thr718=) rs370827464
NM_017636.4(TRPM4):c.2196G>A (p.Gly732=)
NM_017636.4(TRPM4):c.2210+13T>C
NM_017636.4(TRPM4):c.2210+16A>T
NM_017636.4(TRPM4):c.2210+9A>C rs1600483301
NM_017636.4(TRPM4):c.2211-11T>C
NM_017636.4(TRPM4):c.2211-19C>G
NM_017636.4(TRPM4):c.2214G>A (p.Thr738=) rs1490908470
NM_017636.4(TRPM4):c.2214G>T (p.Thr738=) rs1490908470
NM_017636.4(TRPM4):c.2217G>A (p.Ala739=)
NM_017636.4(TRPM4):c.2226C>A (p.Ala742=)
NM_017636.4(TRPM4):c.2226C>T (p.Ala742=)
NM_017636.4(TRPM4):c.2232G>A (p.Lys744=) rs2123040867
NM_017636.4(TRPM4):c.2238G>T (p.Pro746=)
NM_017636.4(TRPM4):c.2244G>T (p.Gly748=)
NM_017636.4(TRPM4):c.2247C>T (p.Val749=) rs1309839953
NM_017636.4(TRPM4):c.2249C>T (p.Pro750Leu) rs776873603
NM_017636.4(TRPM4):c.2250G>A (p.Pro750=)
NM_017636.4(TRPM4):c.2259G>C (p.Ser753=) rs773584639
NM_017636.4(TRPM4):c.2259G>T (p.Ser753=)
NM_017636.4(TRPM4):c.225C>T (p.Tyr75=)
NM_017636.4(TRPM4):c.2268G>A (p.Pro756=) rs752448175
NM_017636.4(TRPM4):c.2274C>T (p.Cys758=)
NM_017636.4(TRPM4):c.2280G>A (p.Gly760=)
NM_017636.4(TRPM4):c.2280G>T (p.Gly760=)
NM_017636.4(TRPM4):c.2283_2294del (p.759_762CGGR[1]) rs113100797
NM_017636.4(TRPM4):c.2292G>C (p.Gly764=) rs866622587
NM_017636.4(TRPM4):c.2295G>A (p.Gly765=)
NM_017636.4(TRPM4):c.2299C>T (p.Arg767Trp)
NM_017636.4(TRPM4):c.2304C>T (p.Cys768=)
NM_017636.4(TRPM4):c.2319C>T (p.Phe773=)
NM_017636.4(TRPM4):c.2325C>T (p.Phe775=)
NM_017636.4(TRPM4):c.2358C>T (p.Asn786=) rs886054579
NM_017636.4(TRPM4):c.2376G>T (p.Leu792=)
NM_017636.4(TRPM4):c.2394G>A (p.Ser798=)
NM_017636.4(TRPM4):c.24+10G>A rs755783855
NM_017636.4(TRPM4):c.24+10G>C
NM_017636.4(TRPM4):c.2409G>T (p.Val803=)
NM_017636.4(TRPM4):c.2410G>A (p.Asp804Asn)
NM_017636.4(TRPM4):c.2421G>A (p.Pro807=)
NM_017636.4(TRPM4):c.2424G>A (p.Ala808=)
NM_017636.4(TRPM4):c.2427G>T (p.Pro809=)
NM_017636.4(TRPM4):c.2430C>G (p.Pro810=)
NM_017636.4(TRPM4):c.2430C>T (p.Pro810=) rs1383007070
NM_017636.4(TRPM4):c.243G>A (p.Thr81=) rs375928899
NM_017636.4(TRPM4):c.243G>C (p.Thr81=) rs375928899
NM_017636.4(TRPM4):c.2446C>T (p.Leu816=) rs544807596
NM_017636.4(TRPM4):c.2484A>G (p.Glu828=)
NM_017636.4(TRPM4):c.249C>G (p.Ala83=) rs142270489
NM_017636.4(TRPM4):c.249C>T (p.Ala83=) rs142270489
NM_017636.4(TRPM4):c.25-13T>C
NM_017636.4(TRPM4):c.25-14G>T
NM_017636.4(TRPM4):c.25-6C>A
NM_017636.4(TRPM4):c.2520C>A (p.Leu840=) rs556538310
NM_017636.4(TRPM4):c.2529G>A (p.Gly843=) rs754769591
NM_017636.4(TRPM4):c.2529G>C (p.Gly843=) rs754769591
NM_017636.4(TRPM4):c.2532C>A (p.Gly844=)
NM_017636.4(TRPM4):c.2532C>T (p.Gly844=)
NM_017636.4(TRPM4):c.2535C>T (p.Pro845=)
NM_017636.4(TRPM4):c.2541T>G (p.Pro847=) rs2123044432
NM_017636.4(TRPM4):c.255C>A (p.Arg85=)
NM_017636.4(TRPM4):c.2562G>A (p.Gln854=)
NM_017636.4(TRPM4):c.2583C>G (p.Ala861=) rs1472609688
NM_017636.4(TRPM4):c.2607A>G (p.Leu869=)
NM_017636.4(TRPM4):c.2634C>T (p.Gly878=)
NM_017636.4(TRPM4):c.2645+10C>T
NM_017636.4(TRPM4):c.2645+11C>T
NM_017636.4(TRPM4):c.2645+12G>C
NM_017636.4(TRPM4):c.2645+17C>T rs1413407063
NM_017636.4(TRPM4):c.2645+7G>T
NM_017636.4(TRPM4):c.2645+9C>A rs774339771
NM_017636.4(TRPM4):c.2645+9C>T rs774339771
NM_017636.4(TRPM4):c.2646-11C>A
NM_017636.4(TRPM4):c.2646-17A>G
NM_017636.4(TRPM4):c.2673C>T (p.Gly891=)
NM_017636.4(TRPM4):c.268-6C>T rs1967284344
NM_017636.4(TRPM4):c.268-7T>C
NM_017636.4(TRPM4):c.2682C>T (p.Val894=)
NM_017636.4(TRPM4):c.2694C>T (p.Asp898=)
NM_017636.4(TRPM4):c.2706C>T (p.Phe902=)
NM_017636.4(TRPM4):c.2715G>A (p.Arg905=) rs1385609036
NM_017636.4(TRPM4):c.2718G>A (p.Leu906=)
NM_017636.4(TRPM4):c.2733G>C (p.Thr911=) rs756464554
NM_017636.4(TRPM4):c.2751G>A (p.Gly917=)
NM_017636.4(TRPM4):c.2757G>A (p.Lys919=) rs747014449
NM_017636.4(TRPM4):c.2766C>A (p.Ile922=) rs774680517
NM_017636.4(TRPM4):c.2778+13C>A
NM_017636.4(TRPM4):c.2778+7C>A
NM_017636.4(TRPM4):c.2778+7C>G rs754161584
NM_017636.4(TRPM4):c.2778+8del rs1600513831
NM_017636.4(TRPM4):c.2778+9G>A rs1968874142
NM_017636.4(TRPM4):c.2779-10C>A
NM_017636.4(TRPM4):c.2779-14A>G rs1254858653
NM_017636.4(TRPM4):c.2779-16C>T rs750760967
NM_017636.4(TRPM4):c.2779-4A>G
NM_017636.4(TRPM4):c.2814C>T (p.Gly938=)
NM_017636.4(TRPM4):c.2817G>A (p.Val939=)
NM_017636.4(TRPM4):c.2853C>T (p.Leu951=)
NM_017636.4(TRPM4):c.2880A>G (p.Pro960=)
NM_017636.4(TRPM4):c.2886C>A (p.Ile962=) rs373741538
NM_017636.4(TRPM4):c.2886C>T (p.Ile962=)
NM_017636.4(TRPM4):c.2898C>G (p.Val966=)
NM_017636.4(TRPM4):c.2931G>A (p.Gln977=) rs2145969484
NM_017636.4(TRPM4):c.2953+14C>A
NM_017636.4(TRPM4):c.2953+7G>A
NM_017636.4(TRPM4):c.2954-20C>T
NM_017636.4(TRPM4):c.2976C>T (p.Asn992=) rs1196091318
NM_017636.4(TRPM4):c.2987_3014del (p.Glu996fs) rs765535147
NM_017636.4(TRPM4):c.2991C>T (p.Pro997=)
NM_017636.4(TRPM4):c.3018C>G (p.Ala1006=)
NM_017636.4(TRPM4):c.3033C>T (p.Cys1011=)
NM_017636.4(TRPM4):c.3066G>A (p.Leu1022=) rs1600520277
NM_017636.4(TRPM4):c.3075C>T (p.Val1025=) rs867092817
NM_017636.4(TRPM4):c.3081C>T (p.Phe1027=)
NM_017636.4(TRPM4):c.3099C>T (p.Ile1033=)
NM_017636.4(TRPM4):c.3114G>A (p.Leu1038=)
NM_017636.4(TRPM4):c.3131+8C>T
NM_017636.4(TRPM4):c.3132-15C>T
NM_017636.4(TRPM4):c.3132-20T>C
NM_017636.4(TRPM4):c.3171C>T (p.Tyr1057=)
NM_017636.4(TRPM4):c.3180G>C (p.Ala1060=)
NM_017636.4(TRPM4):c.3198C>A (p.Ile1066=)
NM_017636.4(TRPM4):c.3201G>T (p.Arg1067=) rs1234660025
NM_017636.4(TRPM4):c.3219C>T (p.Pro1073=)
NM_017636.4(TRPM4):c.3243C>T (p.Val1081=)
NM_017636.4(TRPM4):c.3252C>T (p.His1084=)
NM_017636.4(TRPM4):c.3255G>A (p.Leu1085=) rs2145996301
NM_017636.4(TRPM4):c.3261C>G (p.Leu1087=)
NM_017636.4(TRPM4):c.3267C>G (p.Leu1089=)
NM_017636.4(TRPM4):c.3274T>C (p.Leu1092=) rs2145996405
NM_017636.4(TRPM4):c.327A>G (p.Thr109=) rs1201914823
NM_017636.4(TRPM4):c.3282G>A (p.Arg1094=) rs780097112
NM_017636.4(TRPM4):c.3288C>T (p.Pro1096=) rs1847604099
NM_017636.4(TRPM4):c.3304T>C (p.Ser1102Pro)
NM_017636.4(TRPM4):c.3315C>T (p.Ala1105=) rs982072766
NM_017636.4(TRPM4):c.3328+10G>A
NM_017636.4(TRPM4):c.3328+16G>A
NM_017636.4(TRPM4):c.3328+17G>T
NM_017636.4(TRPM4):c.3328+8C>T
NM_017636.4(TRPM4):c.3329-10G>A rs764962434
NM_017636.4(TRPM4):c.3329-10G>T
NM_017636.4(TRPM4):c.3329-14G>T
NM_017636.4(TRPM4):c.3329-15C>T
NM_017636.4(TRPM4):c.3329-16C>T
NM_017636.4(TRPM4):c.3329-4G>A rs374808636
NM_017636.4(TRPM4):c.3329-8C>G rs369748756
NM_017636.4(TRPM4):c.3339T>C (p.Leu1113=) rs755808996
NM_017636.4(TRPM4):c.3339T>G (p.Leu1113=)
NM_017636.4(TRPM4):c.3351C>G (p.Ala1117=)
NM_017636.4(TRPM4):c.3363G>C (p.Leu1121=)
NM_017636.4(TRPM4):c.3369G>A (p.Thr1123=) rs747058283
NM_017636.4(TRPM4):c.3417C>T (p.Asp1139=)
NM_017636.4(TRPM4):c.3432C>T (p.Asp1144=)
NM_017636.4(TRPM4):c.3441T>C (p.Arg1147=) rs1600546234
NM_017636.4(TRPM4):c.3453G>A (p.Thr1151=)
NM_017636.4(TRPM4):c.3461+12G>A
NM_017636.4(TRPM4):c.3461+8C>G
NM_017636.4(TRPM4):c.3461+9G>A
NM_017636.4(TRPM4):c.3462-15G>T
NM_017636.4(TRPM4):c.3484C>T (p.Leu1162=)
NM_017636.4(TRPM4):c.3513C>T (p.Arg1171=) rs1379017824
NM_017636.4(TRPM4):c.3519A>G (p.Lys1173=)
NM_017636.4(TRPM4):c.351G>C (p.Leu117=) rs2122802668
NM_017636.4(TRPM4):c.3534+16C>T
NM_017636.4(TRPM4):c.3534+19G>T rs765818541
NM_017636.4(TRPM4):c.3534+7C>G
NM_017636.4(TRPM4):c.3534+9T>C rs1969348544
NM_017636.4(TRPM4):c.3535-15C>G
NM_017636.4(TRPM4):c.3552C>T (p.Arg1184=)
NM_017636.4(TRPM4):c.3556C>T (p.Leu1186=) rs267605581
NM_017636.4(TRPM4):c.3558G>C (p.Leu1186=)
NM_017636.4(TRPM4):c.3570C>T (p.Ala1190=)
NM_017636.4(TRPM4):c.3600C>G (p.Pro1200=) rs747620725
NM_017636.4(TRPM4):c.3609G>C (p.Gly1203=)
NM_017636.4(TRPM4):c.3627G>A (p.Leu1209=)
NM_017636.4(TRPM4):c.3640+16C>T
NM_017636.4(TRPM4):c.3641-12C>G rs1600549339
NM_017636.4(TRPM4):c.3641-16T>C rs1969368830
NM_017636.4(TRPM4):c.3641-2A>T
NM_017636.4(TRPM4):c.3641-5C>T
NM_017636.4(TRPM4):c.366G>C (p.Leu122=)
NM_017636.4(TRPM4):c.375G>T (p.Ser125=) rs34333830
NM_017636.4(TRPM4):c.405G>A (p.Gln135=)
NM_017636.4(TRPM4):c.408C>T (p.Asp136=)
NM_017636.4(TRPM4):c.420T>A (p.Arg140=)
NM_017636.4(TRPM4):c.448+12T>C rs1600409226
NM_017636.4(TRPM4):c.448+15G>A
NM_017636.4(TRPM4):c.448+16T>G
NM_017636.4(TRPM4):c.448+7G>A
NM_017636.4(TRPM4):c.449-8_449-7dup rs1967306508
NM_017636.4(TRPM4):c.462C>T (p.Val154=) rs2122805580
NM_017636.4(TRPM4):c.468G>A (p.Gly156=)
NM_017636.4(TRPM4):c.480G>C (p.Thr160=)
NM_017636.4(TRPM4):c.486C>T (p.Ile162=)
NM_017636.4(TRPM4):c.531C>T (p.Ser177=) rs2122806502
NM_017636.4(TRPM4):c.534T>G (p.Thr178=)
NM_017636.4(TRPM4):c.546G>A (p.Lys182=)
NM_017636.4(TRPM4):c.576T>C (p.Gly192=)
NM_017636.4(TRPM4):c.597C>A (p.Thr199=)
NM_017636.4(TRPM4):c.597C>T (p.Thr199=) rs749550167
NM_017636.4(TRPM4):c.606C>T (p.Asn202=)
NM_017636.4(TRPM4):c.612+15C>T rs911181193
NM_017636.4(TRPM4):c.613-12T>C
NM_017636.4(TRPM4):c.613-8T>A
NM_017636.4(TRPM4):c.641G>A (p.Arg214His) rs145878044
NM_017636.4(TRPM4):c.642C>G (p.Arg214=)
NM_017636.4(TRPM4):c.690G>A (p.Ser230=)
NM_017636.4(TRPM4):c.696C>T (p.Phe232=)
NM_017636.4(TRPM4):c.6G>T (p.Val2=)
NM_017636.4(TRPM4):c.708C>T (p.Asp236=)
NM_017636.4(TRPM4):c.714C>A (p.Gly238=)
NM_017636.4(TRPM4):c.720C>T (p.His240=)
NM_017636.4(TRPM4):c.723C>T (p.Gly241=) rs1298019869
NM_017636.4(TRPM4):c.726C>T (p.Cys242=)
NM_017636.4(TRPM4):c.759G>A (p.Leu253=)
NM_017636.4(TRPM4):c.768C>T (p.Tyr256=)
NM_017636.4(TRPM4):c.786G>A (p.Thr262=) rs759568404
NM_017636.4(TRPM4):c.786G>T (p.Thr262=) rs759568404
NM_017636.4(TRPM4):c.789C>T (p.Gly263=)
NM_017636.4(TRPM4):c.792G>C (p.Val264=)
NM_017636.4(TRPM4):c.796+10C>G
NM_017636.4(TRPM4):c.796+10C>T
NM_017636.4(TRPM4):c.796+15C>T
NM_017636.4(TRPM4):c.796+16del
NM_017636.4(TRPM4):c.796+26_796+32del
NM_017636.4(TRPM4):c.796+274AAT[9] rs577879197
NM_017636.4(TRPM4):c.797-13C>A
NM_017636.4(TRPM4):c.797-4T>A
NM_017636.4(TRPM4):c.819C>T (p.Val273=)
NM_017636.4(TRPM4):c.829C>T (p.Leu277=) rs1555752825
NM_017636.4(TRPM4):c.846G>A (p.Glu282=)
NM_017636.4(TRPM4):c.850A>T (p.Met284Leu)
NM_017636.4(TRPM4):c.858+12C>T
NM_017636.4(TRPM4):c.858+14G>A rs2122832339
NM_017636.4(TRPM4):c.858+17G>A
NM_017636.4(TRPM4):c.858+20C>T
NM_017636.4(TRPM4):c.859-4G>A rs2122833532
NM_017636.4(TRPM4):c.860G>A (p.Arg287Gln)
NM_017636.4(TRPM4):c.873C>T (p.Ala291=)
NM_017636.4(TRPM4):c.885G>T (p.Gln295His) rs150368509
NM_017636.4(TRPM4):c.897C>G (p.Leu299=)
NM_017636.4(TRPM4):c.900C>T (p.Leu300=)
NM_017636.4(TRPM4):c.92+12G>A rs377431946
NM_017636.4(TRPM4):c.92+13C>T
NM_017636.4(TRPM4):c.924G>A (p.Ala308=)
NM_017636.4(TRPM4):c.93-10G>A
NM_017636.4(TRPM4):c.93-17C>T
NM_017636.4(TRPM4):c.93-20C>G
NM_017636.4(TRPM4):c.93-4C>A rs963965514
NM_017636.4(TRPM4):c.93-7C>T
NM_017636.4(TRPM4):c.96G>A (p.Gly32=)
NM_017636.4(TRPM4):c.99C>T (p.Thr33=) rs765230099

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