ClinVar Miner

List of variants in gene TMEM67 studied for Meckel syndrome

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 948
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HGVS dbSNP gnomAD frequency
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_153704.6(TMEM67):c.1518+18T>C rs73694953 0.01972
NM_001142301.1(TMEM67):c.-200G>C rs79833026 0.01971
NM_153704.6(TMEM67):c.*19T>C rs55850117 0.01744
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_153704.6(TMEM67):c.*852C>T rs114214029 0.01103
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793 0.00439
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535 0.00213
NM_153704.6(TMEM67):c.*1653G>A rs544858713 0.00196
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279 0.00145
NM_153704.6(TMEM67):c.*853G>A rs191740525 0.00133
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594 0.00089
NM_153704.6(TMEM67):c.714+18A>T rs140881754 0.00086
NM_153704.6(TMEM67):c.2241+15A>G rs201043898 0.00072
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val) rs34779331 0.00071
NM_153704.6(TMEM67):c.*690T>A rs535033320 0.00056
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152 0.00046
NM_153704.6(TMEM67):c.*941T>C rs112317911 0.00041
NM_153704.6(TMEM67):c.577-6A>G rs191516556 0.00041
NM_153704.6(TMEM67):c.2439+17C>T rs375852558 0.00029
NM_153704.6(TMEM67):c.1426C>T (p.Pro476Ser) rs145236803 0.00028
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_153704.6(TMEM67):c.*279T>C rs752060945 0.00017
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile) rs200329273 0.00016
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) rs370004832 0.00015
NM_153704.6(TMEM67):c.37G>A (p.Val13Ile) rs561584664 0.00015
NM_153704.6(TMEM67):c.1131+19A>C rs747877982 0.00014
NM_153704.6(TMEM67):c.869+9A>G rs372597584 0.00014
NM_153704.6(TMEM67):c.192T>C (p.Pro64=) rs150383995 0.00013
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682 0.00012
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) rs201949664 0.00012
NM_153704.6(TMEM67):c.312+13T>C rs748077984 0.00012
NM_153704.6(TMEM67):c.312+14A>G rs202135944 0.00012
NM_153704.6(TMEM67):c.224-2del rs386834190 0.00010
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_153704.6(TMEM67):c.46C>T (p.Leu16Phe) rs367722582 0.00009
NM_153704.6(TMEM67):c.978+19A>G rs575288126 0.00009
NM_153704.6(TMEM67):c.2323A>G (p.Ile775Val) rs200145042 0.00008
NM_153704.6(TMEM67):c.43T>A (p.Ser15Thr) rs748221725 0.00008
NM_153704.6(TMEM67):c.1674+14A>T rs769381574 0.00007
NM_153704.6(TMEM67):c.2162C>G (p.Pro721Arg) rs757105976 0.00007
NM_153704.6(TMEM67):c.2907+9T>C rs372865972 0.00007
NM_153704.6(TMEM67):c.69C>T (p.Thr23=) rs745801674 0.00007
NM_153704.6(TMEM67):c.*1424C>A rs1024783132 0.00006
NM_153704.6(TMEM67):c.1961-19A>G rs996724179 0.00006
NM_153704.6(TMEM67):c.2100+5A>G rs545189546 0.00006
NM_153704.6(TMEM67):c.2175T>C (p.Ala725=) rs368159329 0.00006
NM_153704.6(TMEM67):c.2634T>G (p.Asn878Lys) rs192288680 0.00006
NM_153704.6(TMEM67):c.279T>C (p.Pro93=) rs199900812 0.00006
NM_153704.6(TMEM67):c.510C>T (p.Cys170=) rs754191151 0.00006
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) rs386834202 0.00006
NM_153704.6(TMEM67):c.651+5G>A rs970248353 0.00006
NM_153704.6(TMEM67):c.652-13T>C rs376654537 0.00006
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) rs202036490 0.00006
NM_153704.6(TMEM67):c.717A>G (p.Val239=) rs111991507 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_153704.6(TMEM67):c.869+17T>A rs767408748 0.00006
NM_153704.6(TMEM67):c.870-17G>C rs554004174 0.00006
NM_153704.6(TMEM67):c.1561C>T (p.His521Tyr) rs558566529 0.00005
NM_153704.6(TMEM67):c.1823G>A (p.Arg608His) rs146130549 0.00005
NM_153704.6(TMEM67):c.1860+14G>T rs369727716 0.00005
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) rs369812327 0.00005
NM_153704.6(TMEM67):c.453G>C (p.Glu151Asp) rs200155700 0.00005
NM_153704.6(TMEM67):c.507G>A (p.Arg169=) rs759319668 0.00005
NM_153704.6(TMEM67):c.1033A>G (p.Lys345Glu) rs764304394 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182 0.00004
NM_153704.6(TMEM67):c.1352G>A (p.Arg451Gln) rs75165625 0.00004
NM_153704.6(TMEM67):c.1412+19A>G rs757870971 0.00004
NM_153704.6(TMEM67):c.1413-12T>G rs369870113 0.00004
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) rs774288177 0.00004
NM_153704.6(TMEM67):c.1773+10T>C rs371485093 0.00004
NM_153704.6(TMEM67):c.1975C>T (p.Arg659Ter) rs150332116 0.00004
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu) rs780823805 0.00004
NM_153704.6(TMEM67):c.2556+4T>G rs772449181 0.00004
NM_153704.6(TMEM67):c.261C>T (p.Ile87=) rs190249177 0.00004
NM_153704.6(TMEM67):c.2765-12T>A rs1232793342 0.00004
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765 0.00004
NM_153704.6(TMEM67):c.2932G>A (p.Val978Ile) rs371965185 0.00004
NM_153704.6(TMEM67):c.313-19T>C rs748779738 0.00004
NM_153704.6(TMEM67):c.31A>G (p.Met11Val) rs758761945 0.00004
NM_153704.6(TMEM67):c.507-16T>C rs367547273 0.00004
NM_153704.6(TMEM67):c.599G>A (p.Ser200Asn) rs1284289042 0.00004
NM_153704.6(TMEM67):c.978+5A>C rs1022082198 0.00004
NM_153704.6(TMEM67):c.991A>C (p.Lys331Gln) rs769351856 0.00004
NM_153704.6(TMEM67):c.*942G>A rs886063177 0.00003
NM_153704.6(TMEM67):c.1177A>G (p.Ile393Val) rs755280678 0.00003
NM_153704.6(TMEM67):c.1412+18G>T rs771301847 0.00003
NM_153704.6(TMEM67):c.1495G>T (p.Asp499Tyr) rs758803102 0.00003
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys) rs747025617 0.00003
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) rs148726767 0.00003
NM_153704.6(TMEM67):c.1983C>T (p.Ala661=) rs1297734907 0.00003
NM_153704.6(TMEM67):c.2208T>C (p.Ser736=) rs1436606444 0.00003
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) rs886038738 0.00003
NM_153704.6(TMEM67):c.2783G>A (p.Ser928Asn) rs538380011 0.00003
NM_153704.6(TMEM67):c.2923C>T (p.Arg975Cys) rs375719305 0.00003
NM_153704.6(TMEM67):c.2924G>A (p.Arg975His) rs191759530 0.00003
NM_153704.6(TMEM67):c.326A>G (p.Glu109Gly) rs372886148 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_153704.6(TMEM67):c.652-16A>G rs569346767 0.00003
NM_153704.6(TMEM67):c.87C>A (p.Phe29Leu) rs766782158 0.00003
NM_153704.6(TMEM67):c.978+13A>G rs760659884 0.00003
NM_153704.6(TMEM67):c.*822G>A rs1295335321 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.169A>G (p.Ile57Val) rs1303516077 0.00002
NM_153704.6(TMEM67):c.1781A>G (p.Lys594Arg) rs142280651 0.00002
NM_153704.6(TMEM67):c.1836T>C (p.Tyr612=) rs767820112 0.00002
NM_153704.6(TMEM67):c.1844G>A (p.Cys615Tyr) rs377160954 0.00002
NM_153704.6(TMEM67):c.1860+19G>A rs373634556 0.00002
NM_153704.6(TMEM67):c.1927C>T (p.Arg643Ter) rs115195998 0.00002
NM_153704.6(TMEM67):c.1928G>A (p.Arg643Gln) rs776677392 0.00002
NM_153704.6(TMEM67):c.1961-20C>A rs150209047 0.00002
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr) rs149475825 0.00002
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala) rs781383498 0.00002
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) rs751517725 0.00002
NM_153704.6(TMEM67):c.2291G>A (p.Arg764Gln) rs754934520 0.00002
NM_153704.6(TMEM67):c.2314A>G (p.Met772Val) rs777291564 0.00002
NM_153704.6(TMEM67):c.237A>G (p.Val79=) rs772881100 0.00002
NM_153704.6(TMEM67):c.2440-6T>C rs532418578 0.00002
NM_153704.6(TMEM67):c.2740A>G (p.Met914Val) rs758944470 0.00002
NM_153704.6(TMEM67):c.312+19A>T rs777205068 0.00002
NM_153704.6(TMEM67):c.42G>T (p.Trp14Cys) rs781254251 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_153704.6(TMEM67):c.539C>T (p.Thr180Ile) rs781361559 0.00002
NM_153704.6(TMEM67):c.5C>T (p.Ala2Val) rs770813739 0.00002
NM_153704.6(TMEM67):c.641A>G (p.Tyr214Cys) rs768183184 0.00002
NM_153704.6(TMEM67):c.64G>A (p.Val22Met) rs770779757 0.00002
NM_153704.6(TMEM67):c.722C>G (p.Ala241Gly) rs115766095 0.00002
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg) rs587779736 0.00002
NM_153704.6(TMEM67):c.799G>A (p.Ala267Thr) rs752179627 0.00002
NM_153704.6(TMEM67):c.979-16C>T rs757127826 0.00002
NM_153704.6(TMEM67):c.*179T>C rs886063174 0.00001
NM_153704.6(TMEM67):c.*761T>G rs553442637 0.00001
NM_153704.6(TMEM67):c.1014T>C (p.Asp338=) rs766110263 0.00001
NM_153704.6(TMEM67):c.1066C>G (p.Leu356Val) rs1371143789 0.00001
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235 0.00001
NM_153704.6(TMEM67):c.1145T>G (p.Ile382Ser) rs1212851821 0.00001
NM_153704.6(TMEM67):c.1175C>G (p.Pro392Arg) rs1455416289 0.00001
NM_153704.6(TMEM67):c.1209T>G (p.Asp403Glu) rs1160691103 0.00001
NM_153704.6(TMEM67):c.1288+6A>G rs766852784 0.00001
NM_153704.6(TMEM67):c.1294A>G (p.Asn432Asp) rs768285863 0.00001
NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter) rs267607118 0.00001
NM_153704.6(TMEM67):c.1318C>T (p.Arg440Trp) rs774746409 0.00001
NM_153704.6(TMEM67):c.1322G>A (p.Arg441His) rs386834183 0.00001
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter) rs116647652 0.00001
NM_153704.6(TMEM67):c.1353del (p.Glu452fs) rs749435317 0.00001
NM_153704.6(TMEM67):c.1387C>T (p.Arg463Ter) rs778155409 0.00001
NM_153704.6(TMEM67):c.1401A>G (p.Gln467=) rs747752903 0.00001
NM_153704.6(TMEM67):c.152A>G (p.Asn51Ser) rs1165968607 0.00001
NM_153704.6(TMEM67):c.1576-9G>T rs760002634 0.00001
NM_153704.6(TMEM67):c.1588G>A (p.Val530Ile) rs774701716 0.00001
NM_153704.6(TMEM67):c.161A>G (p.Tyr54Cys) rs386834188 0.00001
NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu) rs267607114 0.00001
NM_153704.6(TMEM67):c.1646G>A (p.Arg549His) rs768457119 0.00001
NM_153704.6(TMEM67):c.1675-13T>A rs144538020 0.00001
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr) rs1281778614 0.00001
NM_153704.6(TMEM67):c.1734C>T (p.Ile578=) rs774011311 0.00001
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115 0.00001
NM_153704.6(TMEM67):c.1773+14T>A rs1370201374 0.00001
NM_153704.6(TMEM67):c.1845T>A (p.Cys615Ter) rs1258492758 0.00001
NM_153704.6(TMEM67):c.1886T>A (p.Ile629Lys) rs1213811614 0.00001
NM_153704.6(TMEM67):c.1895T>G (p.Ile632Ser) rs1440787153 0.00001
NM_153704.6(TMEM67):c.1976G>A (p.Arg659Gln) rs769827614 0.00001
NM_153704.6(TMEM67):c.1A>G (p.Met1Val) rs772948173 0.00001
NM_153704.6(TMEM67):c.2100+3A>G rs376417882 0.00001
NM_153704.6(TMEM67):c.2176C>T (p.Pro726Ser) rs746521577 0.00001
NM_153704.6(TMEM67):c.2188A>G (p.Ile730Val) rs776427277 0.00001
NM_153704.6(TMEM67):c.2199T>C (p.Tyr733=) rs774835190 0.00001
NM_153704.6(TMEM67):c.223+9G>A rs1264088122 0.00001
NM_153704.6(TMEM67):c.2237T>C (p.Ile746Thr) rs947256938 0.00001
NM_153704.6(TMEM67):c.226A>G (p.Thr76Ala) rs747598603 0.00001
NM_153704.6(TMEM67):c.2278G>C (p.Glu760Gln) rs1166437802 0.00001
NM_153704.6(TMEM67):c.231A>G (p.Ser77=) rs769535902 0.00001
NM_153704.6(TMEM67):c.2322+2dup rs386834192 0.00001
NM_153704.6(TMEM67):c.2323-12C>A rs1007807232 0.00001
NM_153704.6(TMEM67):c.2335C>G (p.Leu779Val) rs762351497 0.00001
NM_153704.6(TMEM67):c.2345A>G (p.His782Arg) rs777137476 0.00001
NM_153704.6(TMEM67):c.2370T>C (p.His790=) rs1475347154 0.00001
NM_153704.6(TMEM67):c.239G>A (p.Cys80Tyr) rs1812545095 0.00001
NM_153704.6(TMEM67):c.2438C>T (p.Ala813Val) rs199874479 0.00001
NM_153704.6(TMEM67):c.2439+5G>C rs756686115 0.00001
NM_153704.6(TMEM67):c.2439G>A (p.Ala813=) rs201791586 0.00001
NM_153704.6(TMEM67):c.2440-11T>C rs767482660 0.00001
NM_153704.6(TMEM67):c.2447T>G (p.Leu816Trp) rs753654003 0.00001
NM_153704.6(TMEM67):c.2528A>G (p.Tyr843Cys) rs386834194 0.00001
NM_153704.6(TMEM67):c.2557-11T>C rs370652713 0.00001
NM_153704.6(TMEM67):c.2661+4T>C rs1298703067 0.00001
NM_153704.6(TMEM67):c.2662-4T>C rs374804519 0.00001
NM_153704.6(TMEM67):c.269A>G (p.Asn90Ser) rs1461948623 0.00001
NM_153704.6(TMEM67):c.2732T>A (p.Met911Lys) rs765686583 0.00001
NM_153704.6(TMEM67):c.2765-4A>C rs1242768505 0.00001
NM_153704.6(TMEM67):c.2774A>G (p.Tyr925Cys) rs376103225 0.00001
NM_153704.6(TMEM67):c.2789T>C (p.Val930Ala) rs199549673 0.00001
NM_153704.6(TMEM67):c.2814T>C (p.Thr938=) rs777590979 0.00001
NM_153704.6(TMEM67):c.28G>A (p.Ala10Thr) rs1247854097 0.00001
NM_153704.6(TMEM67):c.2907+15T>C rs1218036498 0.00001
NM_153704.6(TMEM67):c.2948T>C (p.Leu983Ser) rs775933592 0.00001
NM_153704.6(TMEM67):c.2954C>T (p.Ser985Phe) rs375047471 0.00001
NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile) rs886063173 0.00001
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn) rs797046045 0.00001
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) rs146838062 0.00001
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) rs751309268 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter) rs386834201 0.00001
NM_153704.6(TMEM67):c.459T>A (p.Cys153Ter) rs745935752 0.00001
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln) rs750950408 0.00001
NM_153704.6(TMEM67):c.582G>A (p.Gly194=) rs1230815674 0.00001
NM_153704.6(TMEM67):c.601A>G (p.Thr201Ala) rs771031546 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_153704.6(TMEM67):c.651+20T>G rs767640779 0.00001
NM_153704.6(TMEM67):c.652-6T>C rs1282835643 0.00001
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter) rs386834205 0.00001
NM_153704.6(TMEM67):c.679G>C (p.Ala227Pro) rs767886819 0.00001
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) rs775883520 0.00001
NM_153704.6(TMEM67):c.75C>G (p.Phe25Leu) rs371462532 0.00001
NM_153704.6(TMEM67):c.766A>G (p.Asn256Asp) rs369178053 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.780C>T (p.Tyr260=) rs966581270 0.00001
NM_153704.6(TMEM67):c.783C>T (p.Asp261=) rs780748968 0.00001
NM_153704.6(TMEM67):c.79C>T (p.Leu27=) rs763698200 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
NM_153704.6(TMEM67):c.869+11T>G rs759451327 0.00001
NM_153704.6(TMEM67):c.882T>C (p.Leu294=) rs200110207 0.00001
NM_153704.6(TMEM67):c.888G>T (p.Trp296Cys) rs386834208 0.00001
NM_153704.6(TMEM67):c.88C>T (p.Leu30Phe) rs1376394849 0.00001
NM_153704.6(TMEM67):c.8C>T (p.Thr3Met) rs779950527 0.00001
NM_153704.6(TMEM67):c.926T>G (p.Val309Gly) rs750006477 0.00001
NM_153704.6(TMEM67):c.934T>C (p.Ser312Pro) rs864622335 0.00001
NM_153704.6(TMEM67):c.983C>T (p.Thr328Ile) rs776653840 0.00001
NC_000008.10:g.(?_94767143)_(94828680_?)dup
NC_000008.10:g.(?_94770691)_(94777894_?)del
NC_000008.10:g.(?_94777614)_(94777894_?)del
NC_000008.10:g.(?_94797471)_(94808642_?)del
NC_000008.10:g.(?_94808184)_(94818223_?)del
NC_000008.10:g.(?_94821048)_(94821409_?)del
NC_000008.10:g.(?_94821048)_(94822135_?)del
NC_000008.10:g.(?_94827513)_(94827695_?)del
NC_000008.11:g.93799747GGAATTATACAGGTAA[3]
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001142301.1(TMEM67):c.2522-6del rs747342409
NM_153704.5(TMEM67):c.*1676C>T rs190176192
NM_153704.6(TMEM67):c.*1099A>G rs1808956444
NM_153704.6(TMEM67):c.*1434T>C rs886063178
NM_153704.6(TMEM67):c.*218T>C rs886063175
NM_153704.6(TMEM67):c.*25C>T rs1808912343
NM_153704.6(TMEM67):c.*300G>A rs886063176
NM_153704.6(TMEM67):c.*512T>C rs570774838
NM_153704.6(TMEM67):c.*580A>G rs995505639
NM_153704.6(TMEM67):c.1002T>A (p.Ala334=)
NM_153704.6(TMEM67):c.1026T>C (p.Asn342=)
NM_153704.6(TMEM67):c.1030C>T (p.Leu344Phe) rs2130668790
NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys) rs754370463
NM_153704.6(TMEM67):c.1048G>A (p.Glu350Lys)
NM_153704.6(TMEM67):c.1050A>C (p.Glu350Asp) rs1813838328
NM_153704.6(TMEM67):c.1065+12T>A
NM_153704.6(TMEM67):c.1065+12T>G
NM_153704.6(TMEM67):c.1065+17T>G rs2130669162
NM_153704.6(TMEM67):c.1065+1del rs386834181
NM_153704.6(TMEM67):c.1065+3A>C
NM_153704.6(TMEM67):c.1065+7A>G
NM_153704.6(TMEM67):c.1065+9G>A
NM_153704.6(TMEM67):c.1066-16T>C
NM_153704.6(TMEM67):c.1066-1G>A
NM_153704.6(TMEM67):c.1066-4G>A
NM_153704.6(TMEM67):c.1066-4_1066-3delinsAT
NM_153704.6(TMEM67):c.1066-7G>A rs978443277
NM_153704.6(TMEM67):c.1066-7G>T
NM_153704.6(TMEM67):c.108C>G (p.Ala36=) rs2130522054
NM_153704.6(TMEM67):c.1093A>G (p.Asn365Asp)
NM_153704.6(TMEM67):c.1101T>C (p.Ala367=)
NM_153704.6(TMEM67):c.1101T>G (p.Ala367=)
NM_153704.6(TMEM67):c.1102T>A (p.Tyr368Asn)
NM_153704.6(TMEM67):c.1104T>C (p.Tyr368=)
NM_153704.6(TMEM67):c.1107A>G (p.Ser369=)
NM_153704.6(TMEM67):c.1121A>G (p.Tyr374Cys)
NM_153704.6(TMEM67):c.1127A>C (p.Gln376Pro) rs137853106
NM_153704.6(TMEM67):c.1130del (p.Asn377fs)
NM_153704.6(TMEM67):c.1131+12C>T
NM_153704.6(TMEM67):c.1131+13G>A
NM_153704.6(TMEM67):c.1131+16A>G
NM_153704.6(TMEM67):c.1131+3A>G
NM_153704.6(TMEM67):c.1131+9G>A rs1813883065
NM_153704.6(TMEM67):c.1132-14_1132-9del rs2130685786
NM_153704.6(TMEM67):c.1132-16T>C
NM_153704.6(TMEM67):c.1132-19T>G
NM_153704.6(TMEM67):c.1132-1G>T
NM_153704.6(TMEM67):c.1132-2A>G
NM_153704.6(TMEM67):c.1132-2_1132-1insAAAA
NM_153704.6(TMEM67):c.1143T>C (p.Pro381=)
NM_153704.6(TMEM67):c.114C>T (p.Thr38=)
NM_153704.6(TMEM67):c.1159A>G (p.Ile387Val)
NM_153704.6(TMEM67):c.1160T>G (p.Ile387Ser)
NM_153704.6(TMEM67):c.1174C>T (p.Pro392Ser)
NM_153704.6(TMEM67):c.1195C>T (p.Leu399Phe)
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup) rs886063171
NM_153704.6(TMEM67):c.1203T>C (p.Tyr401=) rs1814042818
NM_153704.6(TMEM67):c.1220A>G (p.His407Arg) rs777641401
NM_153704.6(TMEM67):c.1220A>T (p.His407Leu)
NM_153704.6(TMEM67):c.1230T>A (p.Ile410=)
NM_153704.6(TMEM67):c.1239G>C (p.Val413=)
NM_153704.6(TMEM67):c.1239G>T (p.Val413=)
NM_153704.6(TMEM67):c.123C>G (p.Phe41Leu) rs1812503608
NM_153704.6(TMEM67):c.1247T>A (p.Leu416Ter)
NM_153704.6(TMEM67):c.124C>G (p.Pro42Ala)
NM_153704.6(TMEM67):c.1263A>G (p.Gln421=)
NM_153704.6(TMEM67):c.1264C>T (p.His422Tyr)
NM_153704.6(TMEM67):c.1269T>C (p.Asn423=)
NM_153704.6(TMEM67):c.1271A>C (p.Lys424Thr) rs2130686722
NM_153704.6(TMEM67):c.1285C>T (p.Gln429Ter)
NM_153704.6(TMEM67):c.1287A>G (p.Gln429=)
NM_153704.6(TMEM67):c.1288+10C>G
NM_153704.6(TMEM67):c.1288+14A>G rs1458179636
NM_153704.6(TMEM67):c.1288+15C>T rs1057523004
NM_153704.6(TMEM67):c.1288+15del
NM_153704.6(TMEM67):c.1288+1G>A
NM_153704.6(TMEM67):c.1288+9T>A
NM_153704.6(TMEM67):c.1288+9T>C
NM_153704.6(TMEM67):c.1289-16_1289-12del
NM_153704.6(TMEM67):c.1289-19T>C
NM_153704.6(TMEM67):c.1289-20T>C
NM_153704.6(TMEM67):c.1289-6T>C rs746707583
NM_153704.6(TMEM67):c.1289-8A>G
NM_153704.6(TMEM67):c.1289-8A>T
NM_153704.6(TMEM67):c.1299T>G (p.Ser433=)
NM_153704.6(TMEM67):c.1312C>T (p.Leu438=)
NM_153704.6(TMEM67):c.1316C>A (p.Thr439Asn)
NM_153704.6(TMEM67):c.1317T>A (p.Thr439=) rs1814090920
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu) rs386834183
NM_153704.6(TMEM67):c.1333G>C (p.Val445Leu) rs1174323452
NM_153704.6(TMEM67):c.1336G>C (p.Asp446His) rs386834184
NM_153704.6(TMEM67):c.1338T>G (p.Asp446Glu)
NM_153704.6(TMEM67):c.1338_1350del (p.Ala447fs) rs2130690833
NM_153704.6(TMEM67):c.1371T>C (p.Thr457=)
NM_153704.6(TMEM67):c.1373dup (p.Pro459fs) rs1586051330
NM_153704.6(TMEM67):c.1376C>A (p.Pro459Gln)
NM_153704.6(TMEM67):c.1377A>G (p.Pro459=)
NM_153704.6(TMEM67):c.137C>A (p.Pro46Gln) rs199708882
NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu) rs199708882
NM_153704.6(TMEM67):c.1381G>A (p.Val461Ile) rs1036689562
NM_153704.6(TMEM67):c.1386T>A (p.Ile462=)
NM_153704.6(TMEM67):c.1398T>G (p.Thr466=)
NM_153704.6(TMEM67):c.13G>T (p.Gly5Cys)
NM_153704.6(TMEM67):c.1412+10T>C
NM_153704.6(TMEM67):c.1412+12T>C
NM_153704.6(TMEM67):c.1412+13C>T
NM_153704.6(TMEM67):c.1412+16A>G
NM_153704.6(TMEM67):c.1413-1G>A
NM_153704.6(TMEM67):c.1413-1G>C rs386834185
NM_153704.6(TMEM67):c.1413-6A>G
NM_153704.6(TMEM67):c.1422T>C (p.Leu474=)
NM_153704.6(TMEM67):c.1433C>T (p.Thr478Ile)
NM_153704.6(TMEM67):c.1447A>G (p.Ile483Val)
NM_153704.6(TMEM67):c.1452C>T (p.Tyr484=)
NM_153704.6(TMEM67):c.145T>A (p.Cys49Ser)
NM_153704.6(TMEM67):c.1473C>G (p.Ala491=)
NM_153704.6(TMEM67):c.1486G>A (p.Asp496Asn)
NM_153704.6(TMEM67):c.148G>A (p.Asp50Asn) rs144253777
NM_153704.6(TMEM67):c.148G>C (p.Asp50His) rs144253777
NM_153704.6(TMEM67):c.148G>T (p.Asp50Tyr)
NM_153704.6(TMEM67):c.1506C>T (p.Ser502=)
NM_153704.6(TMEM67):c.150C>A (p.Asp50Glu) rs1486419446
NM_153704.6(TMEM67):c.1518+15del
NM_153704.6(TMEM67):c.1518+20G>T
NM_153704.6(TMEM67):c.1518+2T>C
NM_153704.6(TMEM67):c.1519-14G>C
NM_153704.6(TMEM67):c.1519-1G>A
NM_153704.6(TMEM67):c.1519G>T (p.Val507Phe)
NM_153704.6(TMEM67):c.151AAC[1] (p.Asn52del)
NM_153704.6(TMEM67):c.1529C>T (p.Ser510Leu) rs1814362454
NM_153704.6(TMEM67):c.1530A>G (p.Ser510=)
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.1538_1539del (p.Thr512_Tyr513insTer) rs386834186
NM_153704.6(TMEM67):c.1544T>C (p.Met515Thr) rs1329676384
NM_153704.6(TMEM67):c.1549C>G (p.His517Asp)
NM_153704.6(TMEM67):c.1559C>T (p.Ala520Val) rs2130711278
NM_153704.6(TMEM67):c.1575+15A>G
NM_153704.6(TMEM67):c.1575+16C>T rs2130711471
NM_153704.6(TMEM67):c.1575+1G>A rs386834187
NM_153704.6(TMEM67):c.1575+6T>G rs2130711420
NM_153704.6(TMEM67):c.1575+9A>G
NM_153704.6(TMEM67):c.1576-10T>C
NM_153704.6(TMEM67):c.1576-19T>C
NM_153704.6(TMEM67):c.1576-1G>A
NM_153704.6(TMEM67):c.1576-20A>G rs1397119713
NM_153704.6(TMEM67):c.1576-2del
NM_153704.6(TMEM67):c.1576-7T>C rs767939125
NM_153704.6(TMEM67):c.1576-7T>G
NM_153704.6(TMEM67):c.1576-9G>C
NM_153704.6(TMEM67):c.157C>T (p.Gln53Ter)
NM_153704.6(TMEM67):c.1580C>T (p.Ala527Val)
NM_153704.6(TMEM67):c.1584G>C (p.Leu528Phe) rs1340120220
NM_153704.6(TMEM67):c.1589T>C (p.Val530Ala)
NM_153704.6(TMEM67):c.158A>G (p.Gln53Arg)
NM_153704.6(TMEM67):c.1594G>T (p.Gly532Cys)
NM_153704.6(TMEM67):c.1599G>A (p.Gly533=)
NM_153704.6(TMEM67):c.159G>A (p.Gln53=)
NM_153704.6(TMEM67):c.159G>C (p.Gln53His)
NM_153704.6(TMEM67):c.15T>G (p.Gly5=)
NM_153704.6(TMEM67):c.1600C>T (p.Leu534=)
NM_153704.6(TMEM67):c.1605T>C (p.Ala535=)
NM_153704.6(TMEM67):c.161_188del (p.Tyr54fs)
NM_153704.6(TMEM67):c.1620T>G (p.Leu540=)
NM_153704.6(TMEM67):c.1621T>C (p.Leu541=)
NM_153704.6(TMEM67):c.1621_1622del (p.Leu541fs)
NM_153704.6(TMEM67):c.1628C>T (p.Thr543Ile)
NM_153704.6(TMEM67):c.1638G>A (p.Trp546Ter) rs2130719312
NM_153704.6(TMEM67):c.1638del (p.Gly545_Trp546insTer) rs2130719298
NM_153704.6(TMEM67):c.1641G>A (p.Lys547=)
NM_153704.6(TMEM67):c.1645C>A (p.Arg549Ser)
NM_153704.6(TMEM67):c.1652G>A (p.Gly551Glu) rs2130719408
NM_153704.6(TMEM67):c.1661T>C (p.Met554Thr)
NM_153704.6(TMEM67):c.1662G>T (p.Met554Ile) rs184632089
NM_153704.6(TMEM67):c.1669T>C (p.Leu557=)
NM_153704.6(TMEM67):c.1671A>G (p.Leu557=)
NM_153704.6(TMEM67):c.1674+12G>A
NM_153704.6(TMEM67):c.1674+17T>G
NM_153704.6(TMEM67):c.1674+1G>A rs1211156516
NM_153704.6(TMEM67):c.1674+3A>G rs863225224
NM_153704.6(TMEM67):c.1674+5A>G
NM_153704.6(TMEM67):c.1674+5A>T rs863224813
NM_153704.6(TMEM67):c.1675-10dup rs752404927
NM_153704.6(TMEM67):c.1675-18C>T
NM_153704.6(TMEM67):c.1675-1G>T
NM_153704.6(TMEM67):c.1675-6T>C
NM_153704.6(TMEM67):c.1675-8A>T
NM_153704.6(TMEM67):c.167A>G (p.Asp56Gly) rs1812506710
NM_153704.6(TMEM67):c.167A>T (p.Asp56Val)
NM_153704.6(TMEM67):c.1690T>C (p.Leu564=) rs950429653
NM_153704.6(TMEM67):c.1697A>G (p.Tyr566Cys)
NM_153704.6(TMEM67):c.1700A>C (p.Tyr567Ser) rs148726767
NM_153704.6(TMEM67):c.1701T>C (p.Tyr567=)
NM_153704.6(TMEM67):c.1704dup (p.Gly569fs)
NM_153704.6(TMEM67):c.1730_1733del (p.Ile577fs)
NM_153704.6(TMEM67):c.1732A>G (p.Ile578Val) rs2130727646
NM_153704.6(TMEM67):c.1740G>A (p.Val580=)
NM_153704.6(TMEM67):c.1749T>C (p.Gly583=)
NM_153704.6(TMEM67):c.174C>T (p.Ser58=)
NM_153704.6(TMEM67):c.1758G>T (p.Trp586Cys) rs1814570287
NM_153704.6(TMEM67):c.1765T>C (p.Phe589Leu)
NM_153704.6(TMEM67):c.1773+13C>T
NM_153704.6(TMEM67):c.1773+17A>G
NM_153704.6(TMEM67):c.1773A>C (p.Lys591Asn) rs2130727915
NM_153704.6(TMEM67):c.1774-19C>G
NM_153704.6(TMEM67):c.1774-4A>G
NM_153704.6(TMEM67):c.1774-6_1774-3inv
NM_153704.6(TMEM67):c.1774-7A>T
NM_153704.6(TMEM67):c.1775C>G (p.Ala592Gly)
NM_153704.6(TMEM67):c.177C>A (p.Ala59=)
NM_153704.6(TMEM67):c.177C>T (p.Ala59=)
NM_153704.6(TMEM67):c.1783T>C (p.Ser595Pro)
NM_153704.6(TMEM67):c.1785T>C (p.Ser595=)
NM_153704.6(TMEM67):c.1785T>G (p.Ser595=)
NM_153704.6(TMEM67):c.1786G>C (p.Val596Leu)
NM_153704.6(TMEM67):c.1786G>T (p.Val596Leu) rs778478057
NM_153704.6(TMEM67):c.1788_1789del (p.Ser597fs)
NM_153704.6(TMEM67):c.1806G>A (p.Met602Ile)
NM_153704.6(TMEM67):c.180C>T (p.Leu60=)
NM_153704.6(TMEM67):c.1822C>G (p.Arg608Gly) rs142283122
NM_153704.6(TMEM67):c.1825T>C (p.Phe609Leu)
NM_153704.6(TMEM67):c.182C>G (p.Ser61Trp)
NM_153704.6(TMEM67):c.1830C>G (p.Val610=)
NM_153704.6(TMEM67):c.1830C>T (p.Val610=)
NM_153704.6(TMEM67):c.1832C>T (p.Thr611Ile)
NM_153704.6(TMEM67):c.1833_1834del (p.Tyr612fs)
NM_153704.6(TMEM67):c.1842A>G (p.Gly614=)
NM_153704.6(TMEM67):c.1860+10A>G
NM_153704.6(TMEM67):c.1860+14G>A
NM_153704.6(TMEM67):c.1860+16C>G
NM_153704.6(TMEM67):c.1860+17A>G
NM_153704.6(TMEM67):c.1860+19G>T rs373634556
NM_153704.6(TMEM67):c.1860+8T>C
NM_153704.6(TMEM67):c.1861-13A>G
NM_153704.6(TMEM67):c.1861-16T>C
NM_153704.6(TMEM67):c.1861-18A>G
NM_153704.6(TMEM67):c.1861-1G>A
NM_153704.6(TMEM67):c.1864C>T (p.Leu622=)
NM_153704.6(TMEM67):c.1893G>C (p.Gln631His)
NM_153704.6(TMEM67):c.18G>C (p.Gly6=) rs1812494244
NM_153704.6(TMEM67):c.1906G>T (p.Val636Leu)
NM_153704.6(TMEM67):c.1911C>T (p.Phe637=) rs863225225
NM_153704.6(TMEM67):c.1913T>A (p.Phe638Tyr) rs2130734310
NM_153704.6(TMEM67):c.1913T>C (p.Phe638Ser)
NM_153704.6(TMEM67):c.1926G>A (p.Glu642=)
NM_153704.6(TMEM67):c.1942G>A (p.Val648Ile) rs764882441
NM_153704.6(TMEM67):c.1942_1951del (p.Val648fs)
NM_153704.6(TMEM67):c.1956T>G (p.Val652=) rs2130734693
NM_153704.6(TMEM67):c.1960+17dup rs1475466139
NM_153704.6(TMEM67):c.1960+9A>T
NM_153704.6(TMEM67):c.1961-3C>T
NM_153704.6(TMEM67):c.1961-7T>A rs1563472215
NM_153704.6(TMEM67):c.1963G>A (p.Glu655Lys)
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
NM_153704.6(TMEM67):c.1968_1969del (p.Gly657fs)
NM_153704.6(TMEM67):c.1977A>C (p.Arg659=)
NM_153704.6(TMEM67):c.1987_1988del (p.Val663fs)
NM_153704.6(TMEM67):c.2001A>G (p.Ile667Met)
NM_153704.6(TMEM67):c.2002T>C (p.Trp668Arg) rs386834189
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2010A>T (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2016T>C (p.Phe672=)
NM_153704.6(TMEM67):c.2018T>C (p.Val673Ala)
NM_153704.6(TMEM67):c.2036A>G (p.Glu679Gly)
NM_153704.6(TMEM67):c.2042A>G (p.Gln681Arg)
NM_153704.6(TMEM67):c.2043G>T (p.Gln681His)
NM_153704.6(TMEM67):c.2065C>G (p.Leu689Val) rs576166051
NM_153704.6(TMEM67):c.2069_2070del (p.Phe690fs)
NM_153704.6(TMEM67):c.2086C>G (p.Leu696Val) rs863225238
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2087T>C (p.Leu696Pro) rs2130735817
NM_153704.6(TMEM67):c.2089T>C (p.Phe697Leu)
NM_153704.6(TMEM67):c.2100+11_2100+14del
NM_153704.6(TMEM67):c.2100+13T>C
NM_153704.6(TMEM67):c.2101-10T>G
NM_153704.6(TMEM67):c.2101-13C>A
NM_153704.6(TMEM67):c.2101-13C>G
NM_153704.6(TMEM67):c.2101-14C>T
NM_153704.6(TMEM67):c.2101-20A>C rs369488441
NM_153704.6(TMEM67):c.2101-20A>G
NM_153704.6(TMEM67):c.2101-5T>C
NM_153704.6(TMEM67):c.2101-8T>C
NM_153704.6(TMEM67):c.2103T>G (p.Val701=)
NM_153704.6(TMEM67):c.210G>C (p.Arg70Ser) rs2130523134
NM_153704.6(TMEM67):c.2115G>A (p.Lys705=)
NM_153704.6(TMEM67):c.2122G>C (p.Ala708Pro) rs149475825
NM_153704.6(TMEM67):c.2128A>G (p.Met710Val) rs112261772
NM_153704.6(TMEM67):c.2135C>T (p.Ser712Leu)
NM_153704.6(TMEM67):c.2137TCT[1] (p.Ser715del)
NM_153704.6(TMEM67):c.2142T>C (p.Ser714=)
NM_153704.6(TMEM67):c.2145T>G (p.Ser715Arg) rs1814779822
NM_153704.6(TMEM67):c.2146C>A (p.Leu716Ile)
NM_153704.6(TMEM67):c.2157C>T (p.Asn719=)
NM_153704.6(TMEM67):c.2159C>A (p.Pro720Gln)
NM_153704.6(TMEM67):c.2160A>G (p.Pro720=)
NM_153704.6(TMEM67):c.2163del (p.Ser722fs)
NM_153704.6(TMEM67):c.2165G>C (p.Ser722Thr)
NM_153704.6(TMEM67):c.2166C>G (p.Ser722Arg)
NM_153704.6(TMEM67):c.2166C>T (p.Ser722=)
NM_153704.6(TMEM67):c.2167T>C (p.Tyr723His) rs576079013
NM_153704.6(TMEM67):c.2175T>A (p.Ala725=)
NM_153704.6(TMEM67):c.217G>A (p.Ala73Thr)
NM_153704.6(TMEM67):c.2180A>G (p.Tyr727Cys)
NM_153704.6(TMEM67):c.2181T>C (p.Tyr727=)
NM_153704.6(TMEM67):c.2184C>T (p.Ser728=)
NM_153704.6(TMEM67):c.2202A>G (p.Ala734=)
NM_153704.6(TMEM67):c.2214T>A (p.Ala738=)
NM_153704.6(TMEM67):c.2223A>G (p.Leu741=)
NM_153704.6(TMEM67):c.2226C>A (p.Ala742=)
NM_153704.6(TMEM67):c.223+10T>G
NM_153704.6(TMEM67):c.223+13G>C
NM_153704.6(TMEM67):c.223+15G>A
NM_153704.6(TMEM67):c.223+16G>C
NM_153704.6(TMEM67):c.223+1G>C
NM_153704.6(TMEM67):c.223+7C>T
NM_153704.6(TMEM67):c.2239C>T (p.Gln747Ter)
NM_153704.6(TMEM67):c.223G>A (p.Gly75Arg)
NM_153704.6(TMEM67):c.224-11T>A
NM_153704.6(TMEM67):c.224-13_224-3del
NM_153704.6(TMEM67):c.224-17T>C
NM_153704.6(TMEM67):c.224-20T>C
NM_153704.6(TMEM67):c.224-2A>T rs768412278
NM_153704.6(TMEM67):c.224-2dup
NM_153704.6(TMEM67):c.224-4_224-3insA
NM_153704.6(TMEM67):c.224-7T>C
NM_153704.6(TMEM67):c.224-9T>G
NM_153704.6(TMEM67):c.2241+12T>C
NM_153704.6(TMEM67):c.2241+19A>G
NM_153704.6(TMEM67):c.2242-14A>G
NM_153704.6(TMEM67):c.2242-7G>A rs761170798
NM_153704.6(TMEM67):c.2242-8T>C
NM_153704.6(TMEM67):c.2242-9A>T
NM_153704.6(TMEM67):c.2244C>T (p.Val748=)
NM_153704.6(TMEM67):c.2245G>A (p.Val749Met) rs753896569
NM_153704.6(TMEM67):c.2247G>C (p.Val749=)
NM_153704.6(TMEM67):c.2263T>C (p.Tyr755His) rs2130757495
NM_153704.6(TMEM67):c.2268G>A (p.Glu756=)
NM_153704.6(TMEM67):c.2269A>C (p.Arg757=)
NM_153704.6(TMEM67):c.2283T>C (p.Asp761=)
NM_153704.6(TMEM67):c.2287A>G (p.Ile763Val)
NM_153704.6(TMEM67):c.2295G>A (p.Gln765=)
NM_153704.6(TMEM67):c.2298C>G (p.Phe766Leu) rs372104198
NM_153704.6(TMEM67):c.2298C>T (p.Phe766=) rs372104198
NM_153704.6(TMEM67):c.2301T>G (p.Val767=)
NM_153704.6(TMEM67):c.2301del (p.Asp768fs) rs386834191
NM_153704.6(TMEM67):c.2302dup (p.Asp768fs)
NM_153704.6(TMEM67):c.2306del (p.Leu769fs) rs2130757733
NM_153704.6(TMEM67):c.2314_2322+4delinsGG rs1064792983
NM_153704.6(TMEM67):c.231A>T (p.Ser77=)
NM_153704.6(TMEM67):c.2322+11T>C
NM_153704.6(TMEM67):c.2322+11dup rs761531825
NM_153704.6(TMEM67):c.2322+17T>C
NM_153704.6(TMEM67):c.2322+18T>G
NM_153704.6(TMEM67):c.2322+1G>T
NM_153704.6(TMEM67):c.2322+20A>G
NM_153704.6(TMEM67):c.2322+4A>C rs1386323468
NM_153704.6(TMEM67):c.2322+7A>G
NM_153704.6(TMEM67):c.2323-10C>G
NM_153704.6(TMEM67):c.2323-10C>T
NM_153704.6(TMEM67):c.2323-4A>G
NM_153704.6(TMEM67):c.2323-5_2323-4insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCGGAGAGGGAGCGGGCGCCCGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAGACGGGAGAGGGAGACCTATTCTCTTTTT rs2130763431
NM_153704.6(TMEM67):c.2325A>G (p.Ile775Met) rs777320782
NM_153704.6(TMEM67):c.2326T>A (p.Ser776Thr) rs748937483
NM_153704.6(TMEM67):c.2326T>G (p.Ser776Ala)
NM_153704.6(TMEM67):c.2327C>T (p.Ser776Leu)
NM_153704.6(TMEM67):c.2336T>G (p.Leu779Arg) rs2130763583
NM_153704.6(TMEM67):c.2339T>C (p.Leu780Ser)
NM_153704.6(TMEM67):c.233G>A (p.Cys78Tyr) rs1563673490
NM_153704.6(TMEM67):c.233G>T (p.Cys78Phe)
NM_153704.6(TMEM67):c.2341T>C (p.Ser781Pro)
NM_153704.6(TMEM67):c.2343C>G (p.Ser781=)
NM_153704.6(TMEM67):c.2343C>T (p.Ser781=)
NM_153704.6(TMEM67):c.2347A>G (p.Lys783Glu)
NM_153704.6(TMEM67):c.2348A>G (p.Lys783Arg)
NM_153704.6(TMEM67):c.2350T>G (p.Cys784Gly) rs2130763694
NM_153704.6(TMEM67):c.2351G>A (p.Cys784Tyr) rs1328212583
NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu) rs386834193
NM_153704.6(TMEM67):c.2357G>C (p.Gly786Ala) rs386834193
NM_153704.6(TMEM67):c.2373T>C (p.Gly791=) rs2130763777
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.237A>T (p.Val79=)
NM_153704.6(TMEM67):c.2385T>A (p.His795Gln)
NM_153704.6(TMEM67):c.2388G>C (p.Gly796=) rs1586083001
NM_153704.6(TMEM67):c.2388G>T (p.Gly796=)
NM_153704.6(TMEM67):c.2407G>A (p.Glu803Lys)
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) rs1554558363
NM_153704.6(TMEM67):c.2425C>G (p.Leu809Val)
NM_153704.6(TMEM67):c.2427T>G (p.Leu809=)
NM_153704.6(TMEM67):c.2429_2433del (p.Lys810fs)
NM_153704.6(TMEM67):c.242_245del (p.Leu81fs)
NM_153704.6(TMEM67):c.2439+19del
NM_153704.6(TMEM67):c.2439+8A>C
NM_153704.6(TMEM67):c.2439+9A>G rs2130764128
NM_153704.6(TMEM67):c.243A>C (p.Leu81=)
NM_153704.6(TMEM67):c.2440-13T>C
NM_153704.6(TMEM67):c.2440-5T>C rs2130780220
NM_153704.6(TMEM67):c.2440-7T>C
NM_153704.6(TMEM67):c.2442A>G (p.Glu814=)
NM_153704.6(TMEM67):c.2445T>C (p.Asn815=)
NM_153704.6(TMEM67):c.2450G>A (p.Cys817Tyr) rs2130780313
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) rs772437766
NM_153704.6(TMEM67):c.246A>G (p.Pro82=)
NM_153704.6(TMEM67):c.2475C>T (p.Asn825=)
NM_153704.6(TMEM67):c.2484T>A (p.Gly828=)
NM_153704.6(TMEM67):c.2505T>A (p.Ile835=)
NM_153704.6(TMEM67):c.2508T>A (p.Ser836=)
NM_153704.6(TMEM67):c.2515A>C (p.Met839Leu) rs1041608878
NM_153704.6(TMEM67):c.2521C>T (p.Gln841Ter)
NM_153704.6(TMEM67):c.2532C>T (p.Asp844=)
NM_153704.6(TMEM67):c.2538T>C (p.Ile846=)
NM_153704.6(TMEM67):c.2542G>T (p.Glu848Ter) rs386834195
NM_153704.6(TMEM67):c.2544G>A (p.Glu848=)
NM_153704.6(TMEM67):c.2556+1G>A
NM_153704.6(TMEM67):c.2556+5G>C rs886063172
NM_153704.6(TMEM67):c.2557-16C>G rs2130781103
NM_153704.6(TMEM67):c.2557-20A>G
NM_153704.6(TMEM67):c.2557-3T>G rs1808586167
NM_153704.6(TMEM67):c.2557-5A>G
NM_153704.6(TMEM67):c.2557A>T (p.Lys853Ter) rs386834196
NM_153704.6(TMEM67):c.2561dup (p.Asn854fs) rs386834197
NM_153704.6(TMEM67):c.2565T>C (p.Gly855=)
NM_153704.6(TMEM67):c.2570C>G (p.Ala857Gly) rs201393025
NM_153704.6(TMEM67):c.2576T>A (p.Leu859Gln)
NM_153704.6(TMEM67):c.2577A>G (p.Leu859=)
NM_153704.6(TMEM67):c.2598T>G (p.Thr866=)
NM_153704.6(TMEM67):c.2600T>C (p.Phe867Ser) rs1563481582
NM_153704.6(TMEM67):c.2604G>A (p.Glu868=)
NM_153704.6(TMEM67):c.2619A>G (p.Ala873=)
NM_153704.6(TMEM67):c.2619A>T (p.Ala873=)
NM_153704.6(TMEM67):c.2625T>C (p.His875=)
NM_153704.6(TMEM67):c.2627T>C (p.Met876Thr) rs528989414
NM_153704.6(TMEM67):c.2635A>G (p.Lys879Glu)
NM_153704.6(TMEM67):c.2654T>C (p.Ile885Thr) rs1563481671
NM_153704.6(TMEM67):c.2659C>A (p.His887Asn)
NM_153704.6(TMEM67):c.2660A>G (p.His887Arg)
NM_153704.6(TMEM67):c.2661+14del
NM_153704.6(TMEM67):c.2661+17T>A rs2130781754
NM_153704.6(TMEM67):c.2661+18T>G
NM_153704.6(TMEM67):c.2661+3A>G rs568703831
NM_153704.6(TMEM67):c.2662-16T>C
NM_153704.6(TMEM67):c.2662-6T>A
NM_153704.6(TMEM67):c.2662G>T (p.Val888Phe) rs1586091861
NM_153704.6(TMEM67):c.2673A>G (p.Glu891=)
NM_153704.6(TMEM67):c.267_294del (p.Asn89fs)
NM_153704.6(TMEM67):c.2680T>A (p.Tyr894Asn) rs1170985091
NM_153704.6(TMEM67):c.2685T>A (p.Phe895Leu) rs1808622944
NM_153704.6(TMEM67):c.2688A>C (p.Ile896=)
NM_153704.6(TMEM67):c.2689_2690insTA (p.Lys897fs) rs386834198
NM_153704.6(TMEM67):c.2701CTT[1] (p.Leu902del) rs2130783329
NM_153704.6(TMEM67):c.2706T>C (p.Leu902=)
NM_153704.6(TMEM67):c.270T>C (p.Asn90=)
NM_153704.6(TMEM67):c.2716C>T (p.Leu906Phe) rs200477047
NM_153704.6(TMEM67):c.2725G>C (p.Glu909Gln) rs878855230
NM_153704.6(TMEM67):c.2737C>A (p.Pro913Thr) rs1254095209
NM_153704.6(TMEM67):c.273A>C (p.Gly91=)
NM_153704.6(TMEM67):c.2744A>T (p.Glu915Val) rs1450784678
NM_153704.6(TMEM67):c.2754_2756del (p.Phe919del) rs786205126
NM_153704.6(TMEM67):c.2764+10A>T rs900677485
NM_153704.6(TMEM67):c.2764+19T>C
NM_153704.6(TMEM67):c.2764+2T>G
NM_153704.6(TMEM67):c.2765-5A>G rs1808862357
NM_153704.6(TMEM67):c.2765-6dup
NM_153704.6(TMEM67):c.2769A>G (p.Glu923=)
NM_153704.6(TMEM67):c.2769A>T (p.Glu923Asp)
NM_153704.6(TMEM67):c.2771G>A (p.Gly924Asp)
NM_153704.6(TMEM67):c.2772T>C (p.Gly924=)
NM_153704.6(TMEM67):c.2774A>T (p.Tyr925Phe) rs376103225
NM_153704.6(TMEM67):c.2776T>C (p.Ser926Pro) rs763360678
NM_153704.6(TMEM67):c.2777C>A (p.Ser926Tyr) rs1808863667
NM_153704.6(TMEM67):c.2787T>G (p.Ser929Arg) rs1197717166
NM_153704.6(TMEM67):c.2790C>T (p.Val930=) rs767620101
NM_153704.6(TMEM67):c.2793G>A (p.Leu931=)
NM_153704.6(TMEM67):c.2796T>C (p.Tyr932=)
NM_153704.6(TMEM67):c.2827G>T (p.Asp943Tyr) rs2130799791
NM_153704.6(TMEM67):c.2829T>C (p.Asp943=)
NM_153704.6(TMEM67):c.282T>C (p.Ala94=) rs1812547702
NM_153704.6(TMEM67):c.2835G>A (p.Leu945=) rs745807071
NM_153704.6(TMEM67):c.2835G>C (p.Leu945=)
NM_153704.6(TMEM67):c.283A>G (p.Ile95Val) rs758638902
NM_153704.6(TMEM67):c.2856G>A (p.Leu952=)
NM_153704.6(TMEM67):c.2858C>T (p.Ala953Val)
NM_153704.6(TMEM67):c.2861G>C (p.Cys954Ser) rs537935631
NM_153704.6(TMEM67):c.2877A>G (p.Leu959=)
NM_153704.6(TMEM67):c.2879C>T (p.Ala960Val)
NM_153704.6(TMEM67):c.2883C>T (p.Ser961=)
NM_153704.6(TMEM67):c.288T>G (p.Ile96Met) rs1812547985
NM_153704.6(TMEM67):c.2897T>C (p.Leu966Pro) rs386834199
NM_153704.6(TMEM67):c.2898A>G (p.Leu966=)
NM_153704.6(TMEM67):c.2907+14A>T
NM_153704.6(TMEM67):c.2908-10A>C
NM_153704.6(TMEM67):c.2908-12T>C
NM_153704.6(TMEM67):c.2908-15G>T
NM_153704.6(TMEM67):c.2908-20G>T rs2130802403
NM_153704.6(TMEM67):c.2918A>G (p.Tyr973Cys)
NM_153704.6(TMEM67):c.2924G>T (p.Arg975Leu) rs191759530
NM_153704.6(TMEM67):c.2933T>C (p.Val978Ala)
NM_153704.6(TMEM67):c.2934A>G (p.Val978=)
NM_153704.6(TMEM67):c.2942A>G (p.Lys981Arg) rs2130802666
NM_153704.6(TMEM67):c.2947T>C (p.Leu983=)
NM_153704.6(TMEM67):c.2961A>G (p.Thr987=)
NM_153704.6(TMEM67):c.2962T>C (p.Leu988=)
NM_153704.6(TMEM67):c.296A>G (p.Lys99Arg)
NM_153704.6(TMEM67):c.2981_2982insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGATCAAAGATTTTT (p.Leu994delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer) rs2130802792
NM_153704.6(TMEM67):c.2982G>T (p.Leu994Phe)
NM_153704.6(TMEM67):c.2988A>G (p.Ter996=)
NM_153704.6(TMEM67):c.308A>G (p.Asn103Ser) rs1289474043
NM_153704.6(TMEM67):c.312+15T>G
NM_153704.6(TMEM67):c.312+2T>G rs2130528812
NM_153704.6(TMEM67):c.312+3G>A rs1404637051
NM_153704.6(TMEM67):c.313-12C>G
NM_153704.6(TMEM67):c.313-12C>T
NM_153704.6(TMEM67):c.313-13del rs367575555
NM_153704.6(TMEM67):c.313-13dup rs367575555
NM_153704.6(TMEM67):c.317G>A (p.Gly106Asp) rs1812680811
NM_153704.6(TMEM67):c.318T>C (p.Gly106=) rs1812680947
NM_153704.6(TMEM67):c.319G>A (p.Val107Ile)
NM_153704.6(TMEM67):c.322dup (p.Thr108fs)
NM_153704.6(TMEM67):c.329A>G (p.Asp110Gly)
NM_153704.6(TMEM67):c.329A>T (p.Asp110Val)
NM_153704.6(TMEM67):c.32T>A (p.Met11Lys) rs544982647
NM_153704.6(TMEM67):c.330T>C (p.Asp110=)
NM_153704.6(TMEM67):c.333C>G (p.Gly111=)
NM_153704.6(TMEM67):c.333C>T (p.Gly111=)
NM_153704.6(TMEM67):c.355A>G (p.Ser119Gly)
NM_153704.6(TMEM67):c.360C>T (p.Asp120=)
NM_153704.6(TMEM67):c.361T>G (p.Leu121Val) rs934823566
NM_153704.6(TMEM67):c.36G>A (p.Ala12=) rs766615868
NM_153704.6(TMEM67):c.36G>C (p.Ala12=)
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys) rs375824494
NM_153704.6(TMEM67):c.371A>C (p.Glu124Ala)
NM_153704.6(TMEM67):c.376A>C (p.Lys126Gln) rs2130545126
NM_153704.6(TMEM67):c.383_384del (p.His128fs) rs386834200
NM_153704.6(TMEM67):c.390C>T (p.Pro130=)
NM_153704.6(TMEM67):c.392T>C (p.Ile131Thr) rs2130545286
NM_153704.6(TMEM67):c.39T>G (p.Val13=)
NM_153704.6(TMEM67):c.401T>C (p.Ile134Thr)
NM_153704.6(TMEM67):c.406+11G>T
NM_153704.6(TMEM67):c.406+12A>T rs575499078
NM_153704.6(TMEM67):c.406+17T>A
NM_153704.6(TMEM67):c.406+18T>C
NM_153704.6(TMEM67):c.406+1G>A
NM_153704.6(TMEM67):c.406+4A>G
NM_153704.6(TMEM67):c.406+7A>C
NM_153704.6(TMEM67):c.407-19T>C
NM_153704.6(TMEM67):c.407-1G>T
NM_153704.6(TMEM67):c.407-2A>G rs2130576231
NM_153704.6(TMEM67):c.407-6G>C rs1271174081
NM_153704.6(TMEM67):c.407-8C>G rs778605297
NM_153704.6(TMEM67):c.407T>C (p.Val136Ala) rs2130576247
NM_153704.6(TMEM67):c.408G>T (p.Val136=)
NM_153704.6(TMEM67):c.423T>C (p.Asn141=)
NM_153704.6(TMEM67):c.429A>T (p.Thr143=)
NM_153704.6(TMEM67):c.429_431del (p.Leu145del)
NM_153704.6(TMEM67):c.443C>A (p.Ala148Glu) rs1563679408
NM_153704.6(TMEM67):c.454C>T (p.Leu152Phe) rs1563679425
NM_153704.6(TMEM67):c.459_460del (p.Cys153_Asp154delinsTer)
NM_153704.6(TMEM67):c.45C>T (p.Ser15=)
NM_153704.6(TMEM67):c.463G>A (p.Gly155Arg)
NM_153704.6(TMEM67):c.471A>G (p.Glu157=) rs1812962110
NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro) rs775716868
NM_153704.6(TMEM67):c.476C>T (p.Ser159Phe)
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153704.6(TMEM67):c.485T>C (p.Val162Ala)
NM_153704.6(TMEM67):c.48C>T (p.Leu16=)
NM_153704.6(TMEM67):c.497T>C (p.Leu166Ser) rs1812963679
NM_153704.6(TMEM67):c.499G>A (p.Gly167Arg) rs2130576945
NM_153704.6(TMEM67):c.506+10G>A
NM_153704.6(TMEM67):c.506+13A>T rs2130577066
NM_153704.6(TMEM67):c.506+17G>C
NM_153704.6(TMEM67):c.506+5G>A
NM_153704.6(TMEM67):c.506+9T>G
NM_153704.6(TMEM67):c.507-10T>C
NM_153704.6(TMEM67):c.507-11A>G
NM_153704.6(TMEM67):c.507-14G>T
NM_153704.6(TMEM67):c.507-16T>G
NM_153704.6(TMEM67):c.507-9A>G
NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter) rs1563672487
NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) rs138783896
NM_153704.6(TMEM67):c.522G>A (p.Glu174=)
NM_153704.6(TMEM67):c.531T>G (p.Phe177Leu) rs1813038272
NM_153704.6(TMEM67):c.546G>A (p.Arg182=) rs2130585586
NM_153704.6(TMEM67):c.55G>T (p.Ala19Ser) rs1300371747
NM_153704.6(TMEM67):c.565C>T (p.Pro189Ser)
NM_153704.6(TMEM67):c.56C>A (p.Ala19Asp)
NM_153704.6(TMEM67):c.576+11C>A
NM_153704.6(TMEM67):c.576+16T>C
NM_153704.6(TMEM67):c.576+17T>C
NM_153704.6(TMEM67):c.576+2T>C
NM_153704.6(TMEM67):c.576+9A>G rs2130585836
NM_153704.6(TMEM67):c.577-11T>C
NM_153704.6(TMEM67):c.577-12T>A
NM_153704.6(TMEM67):c.577-12_577-1delinsAA
NM_153704.6(TMEM67):c.577-20T>C
NM_153704.6(TMEM67):c.577-4del
NM_153704.6(TMEM67):c.577-8T>C
NM_153704.6(TMEM67):c.579del (p.Gly195fs) rs386834203
NM_153704.6(TMEM67):c.57C>A (p.Ala19=) rs749429162
NM_153704.6(TMEM67):c.588A>T (p.Leu196Phe)
NM_153704.6(TMEM67):c.594C>T (p.Phe198=) rs149290663
NM_153704.6(TMEM67):c.619C>T (p.Arg207Cys)
NM_153704.6(TMEM67):c.648del (p.Val217fs) rs386834204
NM_153704.6(TMEM67):c.651+12T>G
NM_153704.6(TMEM67):c.651+15A>G
NM_153704.6(TMEM67):c.651+17T>C rs926157464
NM_153704.6(TMEM67):c.651+17T>G rs926157464
NM_153704.6(TMEM67):c.651+18T>C
NM_153704.6(TMEM67):c.651+19T>C
NM_153704.6(TMEM67):c.651+22del
NM_153704.6(TMEM67):c.651+8T>C
NM_153704.6(TMEM67):c.652-18G>A rs1198930533
NM_153704.6(TMEM67):c.652-8G>T
NM_153704.6(TMEM67):c.654C>G (p.Gly218=)
NM_153704.6(TMEM67):c.654C>T (p.Gly218=)
NM_153704.6(TMEM67):c.666T>A (p.Thr222=)
NM_153704.6(TMEM67):c.66G>A (p.Val22=)
NM_153704.6(TMEM67):c.675G>C (p.Trp225Cys)
NM_153704.6(TMEM67):c.679G>A (p.Ala227Thr) rs767886819
NM_153704.6(TMEM67):c.67A>G (p.Thr23Ala) rs2130521457
NM_153704.6(TMEM67):c.67A>T (p.Thr23Ser)
NM_153704.6(TMEM67):c.683_689del (p.Lys228fs) rs2130622403
NM_153704.6(TMEM67):c.687T>C (p.Tyr229=)
NM_153704.6(TMEM67):c.692A>G (p.Gln231Arg) rs143495661
NM_153704.6(TMEM67):c.695C>T (p.Ser232Leu) rs2130622470
NM_153704.6(TMEM67):c.69C>G (p.Thr23=)
NM_153704.6(TMEM67):c.708A>G (p.Ala236=)
NM_153704.6(TMEM67):c.714+11A>G
NM_153704.6(TMEM67):c.714+14T>C
NM_153704.6(TMEM67):c.714+4A>G
NM_153704.6(TMEM67):c.714+7T>C rs2130622573
NM_153704.6(TMEM67):c.714G>A (p.Trp238Ter) rs1038920023
NM_153704.6(TMEM67):c.715-12G>A
NM_153704.6(TMEM67):c.715-12G>T
NM_153704.6(TMEM67):c.715-13T>C
NM_153704.6(TMEM67):c.715-4G>C rs560467218
NM_153704.6(TMEM67):c.715-8T>C
NM_153704.6(TMEM67):c.71C>T (p.Ala24Val)
NM_153704.6(TMEM67):c.720T>C (p.Tyr240=)
NM_153704.6(TMEM67):c.722C>T (p.Ala241Val) rs115766095
NM_153704.6(TMEM67):c.731C>T (p.Thr244Ile) rs1405448469
NM_153704.6(TMEM67):c.734C>T (p.Ser245Phe) rs386834206
NM_153704.6(TMEM67):c.741A>G (p.Gln247=)
NM_153704.6(TMEM67):c.744T>C (p.Ala248=)
NM_153704.6(TMEM67):c.749G>A (p.Gly250Glu)
NM_153704.6(TMEM67):c.754A>G (p.Met252Val)
NM_153704.6(TMEM67):c.756G>C (p.Met252Ile) rs2130662628
NM_153704.6(TMEM67):c.757T>G (p.Cys253Gly)
NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro) rs886063170
NM_153704.6(TMEM67):c.786T>C (p.Phe262=) rs1222482768
NM_153704.6(TMEM67):c.789C>T (p.Ala263=)
NM_153704.6(TMEM67):c.793T>G (p.Phe265Val)
NM_153704.6(TMEM67):c.796G>C (p.Asp266His)
NM_153704.6(TMEM67):c.801A>G (p.Ala267=)
NM_153704.6(TMEM67):c.810A>G (p.Leu270=)
NM_153704.6(TMEM67):c.816G>C (p.Gln272His)
NM_153704.6(TMEM67):c.820A>C (p.Ile274Leu) rs748922044
NM_153704.6(TMEM67):c.840A>C (p.Gly280=)
NM_153704.6(TMEM67):c.840A>G (p.Gly280=)
NM_153704.6(TMEM67):c.846C>T (p.Ser282=) rs1813782763
NM_153704.6(TMEM67):c.848C>T (p.Thr283Ile) rs747533371
NM_153704.6(TMEM67):c.849T>G (p.Thr283=)
NM_153704.6(TMEM67):c.854A>T (p.His285Leu)
NM_153704.6(TMEM67):c.859A>G (p.Ile287Val)
NM_153704.6(TMEM67):c.869+17T>C
NM_153704.6(TMEM67):c.869+17T>G
NM_153704.6(TMEM67):c.869+18G>C
NM_153704.6(TMEM67):c.869+1G>C
NM_153704.6(TMEM67):c.869+20T>C
NM_153704.6(TMEM67):c.869+3A>T rs1813784101
NM_153704.6(TMEM67):c.869G>A (p.Trp290Ter)
NM_153704.6(TMEM67):c.870-16T>C
NM_153704.6(TMEM67):c.870-2A>G rs386834207
NM_153704.6(TMEM67):c.870-8G>A
NM_153704.6(TMEM67):c.877_880del (p.Asn293fs)
NM_153704.6(TMEM67):c.897T>C (p.Tyr299=)
NM_153704.6(TMEM67):c.905A>G (p.Gln302Arg) rs2130664380
NM_153704.6(TMEM67):c.924_925insTGAGGAGTGTCTCTGCCCGGCCGCTCCGTCTGAGAAGTGAGGAAACCCTCTGCCTGGCAACCGCCCCGTCTGAGAAGTGAGGAGCCCCTCCGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAGGATTAGCACCTCAA (p.Val309Ter) rs2130664400
NM_153704.6(TMEM67):c.92C>T (p.Pro31Leu)
NM_153704.6(TMEM67):c.937A>G (p.Thr313Ala)
NM_153704.6(TMEM67):c.939C>T (p.Thr313=)
NM_153704.6(TMEM67):c.949A>T (p.Thr317Ser)
NM_153704.6(TMEM67):c.94C>A (p.Arg32Ser)
NM_153704.6(TMEM67):c.952A>G (p.Asn318Asp)
NM_153704.6(TMEM67):c.970G>A (p.Glu324Lys)
NM_153704.6(TMEM67):c.972A>G (p.Glu324=) rs2130664789
NM_153704.6(TMEM67):c.978+12T>C rs2130664875
NM_153704.6(TMEM67):c.978+14A>G
NM_153704.6(TMEM67):c.978+17T>C
NM_153704.6(TMEM67):c.978+1G>A rs1563458773
NM_153704.6(TMEM67):c.978+3A>G rs775256658
NM_153704.6(TMEM67):c.979-15G>A
NM_153704.6(TMEM67):c.979-18C>T
NM_153704.6(TMEM67):c.982A>T (p.Thr328Ser) rs2130668443
NM_153704.6(TMEM67):c.990G>A (p.Leu330=)
NM_153704.6(TMEM67):c.995T>G (p.Phe332Cys) rs2130668557
NM_153704.6(TMEM67):c.996_1014del (p.Phe332fs) rs2130668581
NM_153704.6(TMEM67):c.99C>T (p.Phe33=)
NM_153704.6(TMEM67):c.9G>A (p.Thr3=) rs774376361

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