ClinVar Miner

List of variants in gene TMEM127

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Gene type:
ClinVar version:
Total variants: 720
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HGVS dbSNP gnomAD frequency
NM_017849.4(TMEM127):c.*1958A>C rs7058 0.56373
NM_017849.3(TMEM127):c.-371A>G rs2301707 0.24593
NM_017849.4(TMEM127):c.245-158A>C rs72825877 0.14584
NM_017849.4(TMEM127):c.621G>A (p.Ala207=) rs3852673 0.13717
NM_017849.4(TMEM127):c.*338G>A rs13022177 0.03241
NM_017849.4(TMEM127):c.*1301T>C rs3770239 0.01488
NM_017849.4(TMEM127):c.*2086C>T rs13418193 0.00895
NM_017849.4(TMEM127):c.*1163C>T rs11691019 0.00769
NM_017849.4(TMEM127):c.*50C>T rs72937654 0.00712
NM_017849.4(TMEM127):c.*2012C>T rs149122699 0.00641
NM_017849.4(TMEM127):c.409+45G>C rs140817879 0.00545
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_017849.4(TMEM127):c.*1306C>T rs148119945 0.00371
NM_017849.4(TMEM127):c.268G>A (p.Val90Met) rs121908823 0.00264
NM_017849.4(TMEM127):c.*2498C>T rs191565203 0.00173
NM_017849.4(TMEM127):c.*2845T>G rs182729595 0.00168
NM_017849.4(TMEM127):c.*1233C>T rs536712285 0.00162
NM_017849.4(TMEM127):c.*2300G>A rs117655540 0.00153
NM_017849.4(TMEM127):c.*502C>T rs191970829 0.00128
NM_017849.4(TMEM127):c.*2291_*2292del rs566328757 0.00091
NM_017849.4(TMEM127):c.*57C>T rs147532087 0.00089
NM_017849.4(TMEM127):c.572C>T (p.Thr191Met) rs200327514 0.00082
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn) rs121908819 0.00073
NM_017849.4(TMEM127):c.*3209A>G rs186348610 0.00064
NM_017849.4(TMEM127):c.*2128C>A rs533813582 0.00061
NM_017849.4(TMEM127):c.*980G>A rs77989183 0.00056
NM_017849.4(TMEM127):c.*2966C>G rs17119378 0.00049
NM_017849.4(TMEM127):c.*1849T>G rs867431947 0.00046
NM_017849.4(TMEM127):c.573G>A (p.Thr191=) rs147816248 0.00028
NM_017849.4(TMEM127):c.*612C>T rs549115489 0.00024
NM_017849.4(TMEM127):c.565C>T (p.Leu189=) rs146965678 0.00022
NM_017849.4(TMEM127):c.*3396G>A rs762419401 0.00020
NM_017849.4(TMEM127):c.*3569C>T rs140274612 0.00020
NM_017849.4(TMEM127):c.*1257C>G rs574710319 0.00018
NM_017849.4(TMEM127):c.136A>G (p.Thr46Ala) rs144659242 0.00018
NM_017849.4(TMEM127):c.410-17G>A rs369750335 0.00016
NM_017849.4(TMEM127):c.*2719G>A rs140164805 0.00014
NM_017849.4(TMEM127):c.*1178A>G rs748572058 0.00012
NM_017849.4(TMEM127):c.665C>T (p.Ala222Val) rs373951977 0.00012
NM_017849.4(TMEM127):c.*1638G>C rs753339060 0.00009
NM_017849.4(TMEM127):c.*3134C>T rs566067694 0.00009
NM_017849.4(TMEM127):c.*3584G>C rs370166706 0.00009
NM_017849.4(TMEM127):c.522C>T (p.Ala174=) rs367951215 0.00009
NM_017849.4(TMEM127):c.*3025G>C rs886056430 0.00008
NM_017849.4(TMEM127):c.324C>T (p.Leu108=) rs148381232 0.00007
NM_017849.4(TMEM127):c.*2121G>T rs778493549 0.00006
NM_017849.4(TMEM127):c.*2875A>G rs915390483 0.00006
NM_017849.4(TMEM127):c.*3560G>T rs886056428 0.00006
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp) rs121908824 0.00006
NM_017849.4(TMEM127):c.*1723C>T rs551200730 0.00005
NM_017849.4(TMEM127):c.*1879G>A rs766485637 0.00005
NM_017849.4(TMEM127):c.*2800T>G rs1037492575 0.00005
NM_017849.4(TMEM127):c.*3271A>G rs569110562 0.00005
NM_017849.4(TMEM127):c.-220T>C rs886056452 0.00005
NM_017849.4(TMEM127):c.348T>C (p.Phe116=) rs926978443 0.00005
NM_017849.4(TMEM127):c.*16C>G rs1251288941 0.00004
NM_017849.4(TMEM127):c.*3049T>C rs1242736942 0.00004
NM_017849.4(TMEM127):c.145G>A (p.Ala49Thr) rs577020327 0.00004
NM_017849.4(TMEM127):c.213G>A (p.Val71=) rs777169152 0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg) rs121908820 0.00004
NM_017849.4(TMEM127):c.245-1G>C rs121908821 0.00004
NM_017849.4(TMEM127):c.270G>T (p.Val90=) rs748896126 0.00004
NM_017849.4(TMEM127):c.393C>T (p.Phe131=) rs756680897 0.00004
NM_017849.4(TMEM127):c.519C>T (p.Phe173=) rs758676810 0.00004
NM_017849.4(TMEM127):c.*2503C>T rs886056435 0.00003
NM_017849.4(TMEM127):c.*2563G>A rs1483429634 0.00003
NM_017849.4(TMEM127):c.-242G>A rs886056453 0.00003
NM_017849.4(TMEM127):c.221A>C (p.Tyr74Ser) rs747804736 0.00003
NM_017849.4(TMEM127):c.221A>G (p.Tyr74Cys) rs747804736 0.00003
NM_017849.4(TMEM127):c.281G>A (p.Arg94Gln) rs746831347 0.00003
NM_017849.4(TMEM127):c.288C>G (p.Ile96Met) rs758726687 0.00003
NM_017849.4(TMEM127):c.379C>T (p.Arg127Cys) rs746883021 0.00003
NM_017849.4(TMEM127):c.398A>G (p.His133Arg) rs587782203 0.00003
NM_017849.4(TMEM127):c.407C>T (p.Thr136Met) rs759138897 0.00003
NM_017849.4(TMEM127):c.413T>C (p.Leu138Pro) rs772714957 0.00003
NM_017849.4(TMEM127):c.464T>A (p.Leu155Ter) rs886039439 0.00003
NM_017849.4(TMEM127):c.494A>G (p.His165Arg) rs752030320 0.00003
NM_017849.4(TMEM127):c.672T>C (p.Tyr224=) rs201935270 0.00003
NM_017849.4(TMEM127):c.*1505A>G rs118172849 0.00002
NM_017849.4(TMEM127):c.*1620C>T rs886056440 0.00002
NM_017849.4(TMEM127):c.*2171C>T rs555968113 0.00002
NM_017849.4(TMEM127):c.253A>G (p.Met85Val) rs771261665 0.00002
NM_017849.4(TMEM127):c.267A>G (p.Thr89=) rs773384410 0.00002
NM_017849.4(TMEM127):c.289G>A (p.Ala97Thr) rs752938517 0.00002
NM_017849.4(TMEM127):c.327C>T (p.Ser109=) rs773650718 0.00002
NM_017849.4(TMEM127):c.409+19C>T rs1484437085 0.00002
NM_017849.4(TMEM127):c.409+8G>A rs749887924 0.00002
NM_017849.4(TMEM127):c.410-4C>T rs1412595514 0.00002
NM_017849.4(TMEM127):c.410-6T>G rs765971817 0.00002
NM_017849.4(TMEM127):c.410-7C>T rs375440877 0.00002
NM_017849.4(TMEM127):c.427G>A (p.Val143Ile) rs772153618 0.00002
NM_017849.4(TMEM127):c.438T>C (p.Phe146=) rs774321958 0.00002
NM_017849.4(TMEM127):c.444T>C (p.Tyr148=) rs768545721 0.00002
NM_017849.4(TMEM127):c.486G>A (p.Lys162=) rs536032990 0.00002
NM_017849.4(TMEM127):c.489G>A (p.Lys163=) rs757792507 0.00002
NM_017849.4(TMEM127):c.615G>C (p.Glu205Asp) rs1434849865 0.00002
NM_017849.4(TMEM127):c.620C>T (p.Ala207Val) rs751044006 0.00002
NM_017849.4(TMEM127):c.700C>A (p.Pro234Thr) rs780992481 0.00002
NM_017849.4(TMEM127):c.*1784C>T rs571939749 0.00001
NM_017849.4(TMEM127):c.*179C>T rs932134479 0.00001
NM_017849.4(TMEM127):c.*1822T>C rs144880727 0.00001
NM_017849.4(TMEM127):c.*2245A>G rs886056438 0.00001
NM_017849.4(TMEM127):c.*2299C>T rs896902158 0.00001
NM_017849.4(TMEM127):c.*2445G>T rs886056436 0.00001
NM_017849.4(TMEM127):c.*2518C>A rs1181236784 0.00001
NM_017849.4(TMEM127):c.*2760A>C rs886056431 0.00001
NM_017849.4(TMEM127):c.*2911C>T rs1461511429 0.00001
NM_017849.4(TMEM127):c.*3391G>A rs1260000636 0.00001
NM_017849.4(TMEM127):c.*340G>A rs1032246352 0.00001
NM_017849.4(TMEM127):c.*3568C>G rs886056427 0.00001
NM_017849.4(TMEM127):c.-196C>T rs886056451 0.00001
NM_017849.4(TMEM127):c.129G>A (p.Ala43=) rs1478096731 0.00001
NM_017849.4(TMEM127):c.130C>T (p.Leu44=) rs754493061 0.00001
NM_017849.4(TMEM127):c.133T>A (p.Cys45Ser) rs995979769 0.00001
NM_017849.4(TMEM127):c.143T>C (p.Leu48Pro) rs1219876266 0.00001
NM_017849.4(TMEM127):c.152C>T (p.Pro51Leu) rs1573977765 0.00001
NM_017849.4(TMEM127):c.154G>T (p.Ala52Ser) rs767257269 0.00001
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser) rs121908818 0.00001
NM_017849.4(TMEM127):c.166A>G (p.Ile56Val) rs751779219 0.00001
NM_017849.4(TMEM127):c.169C>T (p.His57Tyr) rs1294717128 0.00001
NM_017849.4(TMEM127):c.172G>A (p.Gly58Arg) rs764136807 0.00001
NM_017849.4(TMEM127):c.192G>C (p.Gln64His) rs1684389208 0.00001
NM_017849.4(TMEM127):c.197T>C (p.Leu66Pro) rs1249787183 0.00001
NM_017849.4(TMEM127):c.204C>T (p.Val68=) rs775642794 0.00001
NM_017849.4(TMEM127):c.205T>C (p.Ser69Pro) rs1424733983 0.00001
NM_017849.4(TMEM127):c.211G>A (p.Val71Met) rs142947571 0.00001
NM_017849.4(TMEM127):c.229C>T (p.Pro77Ser) rs1390685113 0.00001
NM_017849.4(TMEM127):c.230C>T (p.Pro77Leu) rs368949257 0.00001
NM_017849.4(TMEM127):c.245-3C>T rs181429509 0.00001
NM_017849.4(TMEM127):c.245-4A>G rs962270831 0.00001
NM_017849.4(TMEM127):c.245-7T>C rs1266586655 0.00001
NM_017849.4(TMEM127):c.250T>G (p.Cys84Gly) rs1369345321 0.00001
NM_017849.4(TMEM127):c.259C>G (p.Pro87Ala) rs761101636 0.00001
NM_017849.4(TMEM127):c.299G>C (p.Cys100Ser) rs886056447 0.00001
NM_017849.4(TMEM127):c.313C>T (p.Leu105=) rs754465684 0.00001
NM_017849.4(TMEM127):c.314T>C (p.Leu105Pro) rs766918841 0.00001
NM_017849.4(TMEM127):c.315G>T (p.Leu105=) rs1440094325 0.00001
NM_017849.4(TMEM127):c.325T>C (p.Ser109Pro) rs761032675 0.00001
NM_017849.4(TMEM127):c.328G>A (p.Ala110Thr) rs767739392 0.00001
NM_017849.4(TMEM127):c.330T>C (p.Ala110=) rs1157106593 0.00001
NM_017849.4(TMEM127):c.333C>T (p.Phe111=) rs1467642553 0.00001
NM_017849.4(TMEM127):c.353C>T (p.Pro118Leu) rs769359648 0.00001
NM_017849.4(TMEM127):c.354G>A (p.Pro118=) rs1392614291 0.00001
NM_017849.4(TMEM127):c.377C>T (p.Thr126Ile) rs775944671 0.00001
NM_017849.4(TMEM127):c.380G>A (p.Arg127His) rs777665433 0.00001
NM_017849.4(TMEM127):c.383G>A (p.Arg128His) rs779277417 0.00001
NM_017849.4(TMEM127):c.384C>T (p.Arg128=) rs755188175 0.00001
NM_017849.4(TMEM127):c.394G>A (p.Ala132Thr) rs750870974 0.00001
NM_017849.4(TMEM127):c.408G>T (p.Thr136=) rs143522428 0.00001
NM_017849.4(TMEM127):c.410-18T>C rs1374413238 0.00001
NM_017849.4(TMEM127):c.410-5C>T rs1356874783 0.00001
NM_017849.4(TMEM127):c.411T>A (p.Val137=) rs760099422 0.00001
NM_017849.4(TMEM127):c.419G>T (p.Cys140Phe) rs121908828 0.00001
NM_017849.4(TMEM127):c.424A>C (p.Thr142Pro) rs936034324 0.00001
NM_017849.4(TMEM127):c.426C>T (p.Thr142=) rs552787569 0.00001
NM_017849.4(TMEM127):c.435C>G (p.Gly145=) rs761795793 0.00001
NM_017849.4(TMEM127):c.451T>C (p.Ser151Pro) rs964860224 0.00001
NM_017849.4(TMEM127):c.462C>G (p.Ile154Met) rs987656498 0.00001
NM_017849.4(TMEM127):c.468C>A (p.Ala156=) rs749579854 0.00001
NM_017849.4(TMEM127):c.469C>T (p.Gln157Ter) rs780133289 0.00001
NM_017849.4(TMEM127):c.485A>G (p.Lys162Arg) rs745947594 0.00001
NM_017849.4(TMEM127):c.506T>A (p.Val169Asp) rs1364190464 0.00001
NM_017849.4(TMEM127):c.520G>A (p.Ala174Thr) rs753594901 0.00001
NM_017849.4(TMEM127):c.523G>A (p.Val175Ile) rs149034651 0.00001
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=) rs550833832 0.00001
NM_017849.4(TMEM127):c.545G>A (p.Gly182Glu) rs761885719 0.00001
NM_017849.4(TMEM127):c.556G>C (p.Ala186Pro) rs764012422 0.00001
NM_017849.4(TMEM127):c.562A>G (p.Ile188Val) rs762657413 0.00001
NM_017849.4(TMEM127):c.585C>T (p.Leu195=) rs758874572 0.00001
NM_017849.4(TMEM127):c.589C>T (p.Arg197Cys) rs140860906 0.00001
NM_017849.4(TMEM127):c.590G>A (p.Arg197His) rs1231066976 0.00001
NM_017849.4(TMEM127):c.619G>A (p.Ala207Thr) rs756818796 0.00001
NM_017849.4(TMEM127):c.633C>T (p.Leu211=) rs368792184 0.00001
NM_017849.4(TMEM127):c.640A>T (p.Met214Leu) rs1239484250 0.00001
NM_017849.4(TMEM127):c.642G>T (p.Met214Ile) rs1485424649 0.00001
NM_017849.4(TMEM127):c.651C>T (p.Asn217=) rs759801591 0.00001
NM_017849.4(TMEM127):c.654G>A (p.Glu218=) rs776822044 0.00001
NM_017849.4(TMEM127):c.657C>T (p.Pro219=) rs1213216357 0.00001
NM_017849.4(TMEM127):c.658T>C (p.Tyr220His) rs1684141729 0.00001
NM_017849.4(TMEM127):c.662C>T (p.Pro221Leu) rs144326855 0.00001
NM_017849.4(TMEM127):c.663G>A (p.Pro221=) rs377760956 0.00001
NM_017849.4(TMEM127):c.666G>A (p.Ala222=) rs772481029 0.00001
NM_017849.4(TMEM127):c.693G>C (p.Gln231His) rs755351925 0.00001
NM_017849.4(TMEM127):c.712C>A (p.Pro238Thr) rs1184921725 0.00001
NC_000002.11:g.(?_96919546)_(96920745_?)del
NC_000002.11:g.(?_96930856)_(96931119_?)dup
NC_000002.11:g.(?_96930866)_(96931137_?)del
NC_000002.12:g.(?_96253808)_(96265399_?)del
NC_000002.12:g.(?_96253808)_(96265399_?)dup
NC_000002.12:g.(?_96265128)_(96265399_?)dup
NM_017849.3:c.498_499insALU
NM_017849.4(TMEM127):c.*1197T>C rs886056442
NM_017849.4(TMEM127):c.*1252C>G rs886056441
NM_017849.4(TMEM127):c.*1406G>A rs534881507
NM_017849.4(TMEM127):c.*1772G>A rs537225254
NM_017849.4(TMEM127):c.*1819C>A rs551671260
NM_017849.4(TMEM127):c.*1819C>G rs551671260
NM_017849.4(TMEM127):c.*1883_*1886dup rs886056439
NM_017849.4(TMEM127):c.*2101_*2103del rs3832113
NM_017849.4(TMEM127):c.*2270dup rs886056437
NM_017849.4(TMEM127):c.*2411C>A rs1158489118
NM_017849.4(TMEM127):c.*249G>A rs886056446
NM_017849.4(TMEM127):c.*2548T>C rs886056434
NM_017849.4(TMEM127):c.*2642C>T rs886056433
NM_017849.4(TMEM127):c.*2684C>G rs1684078512
NM_017849.4(TMEM127):c.*2717C>G rs886056432
NM_017849.4(TMEM127):c.*2860A>G rs1289173127
NM_017849.4(TMEM127):c.*2888del rs139762991
NM_017849.4(TMEM127):c.*3200GTT[2] rs141956691
NM_017849.4(TMEM127):c.*3348G>C rs886056429
NM_017849.4(TMEM127):c.*547G>A
NM_017849.4(TMEM127):c.*662G>A rs886056445
NM_017849.4(TMEM127):c.*674dup rs201871634
NM_017849.4(TMEM127):c.*760del rs371530522
NM_017849.4(TMEM127):c.*760dup rs371530522
NM_017849.4(TMEM127):c.*866C>T rs926874804
NM_017849.4(TMEM127):c.*883C>G rs886056443
NM_017849.4(TMEM127):c.*980G>C rs77989183
NM_017849.4(TMEM127):c.126G>A (p.Thr42=) rs1573977835
NM_017849.4(TMEM127):c.126G>C (p.Thr42=) rs1573977835
NM_017849.4(TMEM127):c.126G>T (p.Thr42=) rs1573977835
NM_017849.4(TMEM127):c.127G>A (p.Ala43Thr) rs2104307898
NM_017849.4(TMEM127):c.128C>A (p.Ala43Glu) rs1684392280
NM_017849.4(TMEM127):c.128C>G (p.Ala43Gly)
NM_017849.4(TMEM127):c.129G>T (p.Ala43=)
NM_017849.4(TMEM127):c.130C>G (p.Leu44Val)
NM_017849.4(TMEM127):c.131T>C (p.Leu44Pro)
NM_017849.4(TMEM127):c.131T>G (p.Leu44Arg)
NM_017849.4(TMEM127):c.134G>T (p.Cys45Phe) rs1684391872
NM_017849.4(TMEM127):c.136A>C (p.Thr46Pro)
NM_017849.4(TMEM127):c.136A>T (p.Thr46Ser) rs144659242
NM_017849.4(TMEM127):c.137C>G (p.Thr46Ser) rs1327376770
NM_017849.4(TMEM127):c.139G>A (p.Ala47Thr) rs2104307805
NM_017849.4(TMEM127):c.140C>A (p.Ala47Asp) rs1022275292
NM_017849.4(TMEM127):c.140C>T (p.Ala47Val)
NM_017849.4(TMEM127):c.141C>T (p.Ala47=)
NM_017849.4(TMEM127):c.143T>A (p.Leu48His)
NM_017849.4(TMEM127):c.144C>T (p.Leu48=) rs1684391372
NM_017849.4(TMEM127):c.145G>C (p.Ala49Pro)
NM_017849.4(TMEM127):c.147C>G (p.Ala49=) rs750237643
NM_017849.4(TMEM127):c.147_159del (p.Glu50fs)
NM_017849.4(TMEM127):c.148G>A (p.Glu50Lys) rs1437924634
NM_017849.4(TMEM127):c.149dup (p.Pro51fs) rs121908817
NM_017849.4(TMEM127):c.151C>G (p.Pro51Ala) rs2104307726
NM_017849.4(TMEM127):c.152C>G (p.Pro51Arg) rs1573977765
NM_017849.4(TMEM127):c.153C>G (p.Pro51=) rs1573977758
NM_017849.4(TMEM127):c.153C>T (p.Pro51=) rs1573977758
NM_017849.4(TMEM127):c.154G>A (p.Ala52Thr) rs767257269
NM_017849.4(TMEM127):c.155C>G (p.Ala52Gly)
NM_017849.4(TMEM127):c.157T>G (p.Trp53Gly) rs1684390862
NM_017849.4(TMEM127):c.158G>A (p.Trp53Ter) rs121908818
NM_017849.4(TMEM127):c.159G>T (p.Trp53Cys)
NM_017849.4(TMEM127):c.161T>G (p.Leu54Trp)
NM_017849.4(TMEM127):c.163C>T (p.His55Tyr)
NM_017849.4(TMEM127):c.164A>C (p.His55Pro) rs894041563
NM_017849.4(TMEM127):c.165C>A (p.His55Gln)
NM_017849.4(TMEM127):c.165C>T (p.His55=)
NM_017849.4(TMEM127):c.167T>A (p.Ile56Asn) rs1177862234
NM_017849.4(TMEM127):c.167T>C (p.Ile56Thr)
NM_017849.4(TMEM127):c.168C>T (p.Ile56=) rs2104307611
NM_017849.4(TMEM127):c.170A>G (p.His57Arg)
NM_017849.4(TMEM127):c.171C>G (p.His57Gln) rs1573977723
NM_017849.4(TMEM127):c.171C>T (p.His57=) rs1573977723
NM_017849.4(TMEM127):c.173G>A (p.Gly58Glu) rs1684390081
NM_017849.4(TMEM127):c.176G>A (p.Gly59Asp)
NM_017849.4(TMEM127):c.176G>T (p.Gly59Val) rs1684390010
NM_017849.4(TMEM127):c.177C>T (p.Gly59=)
NM_017849.4(TMEM127):c.179C>A (p.Thr60Asn) rs1171618626
NM_017849.4(TMEM127):c.179C>T (p.Thr60Ile) rs1171618626
NM_017849.4(TMEM127):c.181T>A (p.Cys61Ser)
NM_017849.4(TMEM127):c.181T>C (p.Cys61Arg)
NM_017849.4(TMEM127):c.182G>A (p.Cys61Tyr) rs886056448
NM_017849.4(TMEM127):c.182G>C (p.Cys61Ser) rs886056448
NM_017849.4(TMEM127):c.182del (p.Cys61fs)
NM_017849.4(TMEM127):c.185C>A (p.Ser62Ter)
NM_017849.4(TMEM127):c.185C>G (p.Ser62Trp)
NM_017849.4(TMEM127):c.185C>T (p.Ser62Leu) rs1248364576
NM_017849.4(TMEM127):c.186G>A (p.Ser62=) rs1573977697
NM_017849.4(TMEM127):c.186G>C (p.Ser62=)
NM_017849.4(TMEM127):c.187C>A (p.Arg63Ser) rs1558756534
NM_017849.4(TMEM127):c.187C>G (p.Arg63Gly)
NM_017849.4(TMEM127):c.187C>T (p.Arg63Cys) rs1558756534
NM_017849.4(TMEM127):c.188G>A (p.Arg63His) rs1187661049
NM_017849.4(TMEM127):c.188G>T (p.Arg63Leu) rs1187661049
NM_017849.4(TMEM127):c.191A>G (p.Gln64Arg)
NM_017849.4(TMEM127):c.193G>A (p.Glu65Lys)
NM_017849.4(TMEM127):c.193G>T (p.Glu65Ter)
NM_017849.4(TMEM127):c.194A>C (p.Glu65Ala)
NM_017849.4(TMEM127):c.194A>G (p.Glu65Gly)
NM_017849.4(TMEM127):c.195G>A (p.Glu65=)
NM_017849.4(TMEM127):c.196C>G (p.Leu66Val) rs1211097710
NM_017849.4(TMEM127):c.196C>T (p.Leu66=) rs1211097710
NM_017849.4(TMEM127):c.198G>A (p.Leu66=) rs2104307422
NM_017849.4(TMEM127):c.198G>C (p.Leu66=) rs2104307422
NM_017849.4(TMEM127):c.198G>T (p.Leu66=)
NM_017849.4(TMEM127):c.199G>A (p.Gly67Arg)
NM_017849.4(TMEM127):c.200G>T (p.Gly67Val) rs1573977675
NM_017849.4(TMEM127):c.201G>A (p.Gly67=) rs1684388788
NM_017849.4(TMEM127):c.202G>A (p.Val68Ile)
NM_017849.4(TMEM127):c.202dup (p.Val68fs) rs1684388744
NM_017849.4(TMEM127):c.206C>T (p.Ser69Phe)
NM_017849.4(TMEM127):c.208del (p.Asp70fs)
NM_017849.4(TMEM127):c.210C>T (p.Asp70=) rs1553437721
NM_017849.4(TMEM127):c.211G>C (p.Val71Leu)
NM_017849.4(TMEM127):c.211G>T (p.Val71Leu)
NM_017849.4(TMEM127):c.212T>A (p.Val71Glu) rs1553437719
NM_017849.4(TMEM127):c.212T>C (p.Val71Ala)
NM_017849.4(TMEM127):c.213G>T (p.Val71=) rs777169152
NM_017849.4(TMEM127):c.214T>A (p.Leu72Met)
NM_017849.4(TMEM127):c.214T>C (p.Leu72=) rs1573977624
NM_017849.4(TMEM127):c.216G>A (p.Leu72=)
NM_017849.4(TMEM127):c.218G>A (p.Gly73Asp)
NM_017849.4(TMEM127):c.218G>C (p.Gly73Ala) rs1304152721
NM_017849.4(TMEM127):c.218del (p.Gly73fs) rs2104307293
NM_017849.4(TMEM127):c.222T>C (p.Tyr74=) rs2104307270
NM_017849.4(TMEM127):c.223G>A (p.Val75Met) rs2104307262
NM_017849.4(TMEM127):c.224T>A (p.Val75Glu) rs2104307256
NM_017849.4(TMEM127):c.224del (p.Val75fs)
NM_017849.4(TMEM127):c.225G>A (p.Val75=) rs1358019729
NM_017849.4(TMEM127):c.226C>T (p.His76Tyr)
NM_017849.4(TMEM127):c.228C>A (p.His76Gln) rs1060500599
NM_017849.4(TMEM127):c.228C>T (p.His76=)
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
NM_017849.4(TMEM127):c.231G>A (p.Pro77=) rs1558756480
NM_017849.4(TMEM127):c.231G>C (p.Pro77=)
NM_017849.4(TMEM127):c.231G>T (p.Pro77=) rs1558756480
NM_017849.4(TMEM127):c.233A>G (p.Asp78Gly)
NM_017849.4(TMEM127):c.233A>T (p.Asp78Val)
NM_017849.4(TMEM127):c.234C>T (p.Asp78=) rs752578568
NM_017849.4(TMEM127):c.236T>G (p.Leu79Arg)
NM_017849.4(TMEM127):c.238C>G (p.Leu80Val) rs1436382974
NM_017849.4(TMEM127):c.238C>T (p.Leu80=) rs1436382974
NM_017849.4(TMEM127):c.239T>C (p.Leu80Pro)
NM_017849.4(TMEM127):c.244+10C>G
NM_017849.4(TMEM127):c.244+13C>T
NM_017849.4(TMEM127):c.244+14G>C rs2104307098
NM_017849.4(TMEM127):c.244+15C>T
NM_017849.4(TMEM127):c.244+16G>C
NM_017849.4(TMEM127):c.244+20G>T rs779488412
NM_017849.4(TMEM127):c.244+2T>C
NM_017849.4(TMEM127):c.244+3G>C rs1472610237
NM_017849.4(TMEM127):c.244+5G>A rs1684386631
NM_017849.4(TMEM127):c.244+6G>A
NM_017849.4(TMEM127):c.244+6G>T rs1573977546
NM_017849.4(TMEM127):c.244+7G>A
NM_017849.4(TMEM127):c.244+7G>T rs1573977543
NM_017849.4(TMEM127):c.244+8T>C
NM_017849.4(TMEM127):c.245-10C>G rs1573970399
NM_017849.4(TMEM127):c.245-10C>T
NM_017849.4(TMEM127):c.245-12C>T
NM_017849.4(TMEM127):c.245-1567del
NM_017849.4(TMEM127):c.245-15G>C
NM_017849.4(TMEM127):c.245-16G>C rs368141539
NM_017849.4(TMEM127):c.245-1G>A
NM_017849.4(TMEM127):c.245-1G>T rs121908821
NM_017849.4(TMEM127):c.245-20A>T
NM_017849.4(TMEM127):c.245-21_245-20dup
NM_017849.4(TMEM127):c.245-258G>A rs62153029
NM_017849.4(TMEM127):c.245-2A>G rs2104288018
NM_017849.4(TMEM127):c.245-2del
NM_017849.4(TMEM127):c.245-4A>C
NM_017849.4(TMEM127):c.245-5T>G
NM_017849.4(TMEM127):c.245-6C>G rs1573970396
NM_017849.4(TMEM127):c.245-7T>G
NM_017849.4(TMEM127):c.245A>T (p.Asp82Val)
NM_017849.4(TMEM127):c.248del (p.Phe83fs) rs587781773
NM_017849.4(TMEM127):c.249C>A (p.Phe83Leu)
NM_017849.4(TMEM127):c.250T>C (p.Cys84Arg)
NM_017849.4(TMEM127):c.251G>C (p.Cys84Ser)
NM_017849.4(TMEM127):c.251G>T (p.Cys84Phe) rs1684175500
NM_017849.4(TMEM127):c.252C>T (p.Cys84=)
NM_017849.4(TMEM127):c.253A>C (p.Met85Leu) rs771261665
NM_017849.4(TMEM127):c.254T>G (p.Met85Arg)
NM_017849.4(TMEM127):c.257A>G (p.Asn86Ser)
NM_017849.4(TMEM127):c.260C>T (p.Pro87Leu)
NM_017849.4(TMEM127):c.261C>G (p.Pro87=) rs1447112240
NM_017849.4(TMEM127):c.261C>T (p.Pro87=)
NM_017849.4(TMEM127):c.262C>T (p.Gln88Ter)
NM_017849.4(TMEM127):c.265A>G (p.Thr89Ala) rs1573970344
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.4(TMEM127):c.266C>G (p.Thr89Arg) rs876658430
NM_017849.4(TMEM127):c.266C>T (p.Thr89Ile) rs876658430
NM_017849.4(TMEM127):c.267_268del (p.Val90fs)
NM_017849.4(TMEM127):c.270G>A (p.Val90=) rs748896126
NM_017849.4(TMEM127):c.271C>A (p.Leu91Met) rs1684174363
NM_017849.4(TMEM127):c.271C>T (p.Leu91=)
NM_017849.4(TMEM127):c.272T>A (p.Leu91Gln) rs775019246
NM_017849.4(TMEM127):c.276C>G (p.Leu92=) rs769267631
NM_017849.4(TMEM127):c.276C>T (p.Leu92=) rs769267631
NM_017849.4(TMEM127):c.278T>C (p.Leu93Pro)
NM_017849.4(TMEM127):c.278T>G (p.Leu93Arg)
NM_017849.4(TMEM127):c.278_288del (p.Leu93fs)
NM_017849.4(TMEM127):c.280C>A (p.Arg94=) rs121908824
NM_017849.4(TMEM127):c.281G>T (p.Arg94Leu) rs746831347
NM_017849.4(TMEM127):c.282G>T (p.Arg94=)
NM_017849.4(TMEM127):c.283G>A (p.Val95Ile) rs2104287727
NM_017849.4(TMEM127):c.283del (p.Val95fs) rs1553437028
NM_017849.4(TMEM127):c.286A>C (p.Ile96Leu)
NM_017849.4(TMEM127):c.288C>T (p.Ile96=) rs758726687
NM_017849.4(TMEM127):c.290C>T (p.Ala97Val)
NM_017849.4(TMEM127):c.291C>G (p.Ala97=) rs546105756
NM_017849.4(TMEM127):c.291C>T (p.Ala97=) rs546105756
NM_017849.4(TMEM127):c.291del (p.Ala98fs) rs2104287651
NM_017849.4(TMEM127):c.292G>A (p.Ala98Thr) rs369144563
NM_017849.4(TMEM127):c.292G>C (p.Ala98Pro) rs369144563
NM_017849.4(TMEM127):c.294C>T (p.Ala98=) rs1684173194
NM_017849.4(TMEM127):c.298T>A (p.Cys100Ser) rs1573970265
NM_017849.4(TMEM127):c.298T>C (p.Cys100Arg) rs1573970265
NM_017849.4(TMEM127):c.298_303dup (p.Phe101_Leu102insCysPhe)
NM_017849.4(TMEM127):c.302T>C (p.Phe101Ser)
NM_017849.4(TMEM127):c.303C>G (p.Phe101Leu)
NM_017849.4(TMEM127):c.303C>T (p.Phe101=)
NM_017849.4(TMEM127):c.304C>T (p.Leu102=)
NM_017849.4(TMEM127):c.305T>G (p.Leu102Arg)
NM_017849.4(TMEM127):c.307G>A (p.Gly103Ser) rs2104287545
NM_017849.4(TMEM127):c.308G>A (p.Gly103Asp) rs1313510506
NM_017849.4(TMEM127):c.308del (p.Gly103fs) rs727503490
NM_017849.4(TMEM127):c.309C>T (p.Gly103=)
NM_017849.4(TMEM127):c.312C>G (p.Ile104Met) rs2104287512
NM_017849.4(TMEM127):c.312C>T (p.Ile104=) rs2104287512
NM_017849.4(TMEM127):c.313C>G (p.Leu105Val)
NM_017849.4(TMEM127):c.314T>G (p.Leu105Arg) rs766918841
NM_017849.4(TMEM127):c.315G>A (p.Leu105=) rs1440094325
NM_017849.4(TMEM127):c.317G>T (p.Cys106Phe)
NM_017849.4(TMEM127):c.321T>C (p.Ser107=) rs1553437007
NM_017849.4(TMEM127):c.321T>G (p.Ser107Arg) rs1553437007
NM_017849.4(TMEM127):c.323T>C (p.Leu108Pro) rs1553437004
NM_017849.4(TMEM127):c.323T>G (p.Leu108Arg) rs1553437004
NM_017849.4(TMEM127):c.325_326del (p.Ser109fs)
NM_017849.4(TMEM127):c.326C>T (p.Ser109Phe) rs1684172006
NM_017849.4(TMEM127):c.327C>G (p.Ser109=) rs773650718
NM_017849.4(TMEM127):c.327del (p.Ala110fs)
NM_017849.4(TMEM127):c.328G>C (p.Ala110Pro) rs767739392
NM_017849.4(TMEM127):c.328G>T (p.Ala110Ser) rs767739392
NM_017849.4(TMEM127):c.328dup (p.Ala110fs)
NM_017849.4(TMEM127):c.330T>A (p.Ala110=)
NM_017849.4(TMEM127):c.331T>C (p.Phe111Leu) rs1558752478
NM_017849.4(TMEM127):c.332T>C (p.Phe111Ser)
NM_017849.4(TMEM127):c.332T>G (p.Phe111Cys) rs2104287330
NM_017849.4(TMEM127):c.332del (p.Phe111fs)
NM_017849.4(TMEM127):c.335T>C (p.Leu112Pro) rs1684170958
NM_017849.4(TMEM127):c.335T>G (p.Leu112Arg) rs1684170958
NM_017849.4(TMEM127):c.337C>A (p.Leu113Met) rs2104287288
NM_017849.4(TMEM127):c.337del (p.Leu113fs) rs1558752468
NM_017849.4(TMEM127):c.338T>A (p.Leu113Gln)
NM_017849.4(TMEM127):c.338T>C (p.Leu113Pro)
NM_017849.4(TMEM127):c.338T>G (p.Leu113Arg)
NM_017849.4(TMEM127):c.340G>C (p.Asp114His)
NM_017849.4(TMEM127):c.341A>T (p.Asp114Val) rs2104287263
NM_017849.4(TMEM127):c.342_343insA (p.Val115fs)
NM_017849.4(TMEM127):c.343G>A (p.Val115Ile) rs930453941
NM_017849.4(TMEM127):c.345C>G (p.Val115=)
NM_017849.4(TMEM127):c.345C>T (p.Val115=)
NM_017849.4(TMEM127):c.347_348del (p.Phe116fs)
NM_017849.4(TMEM127):c.348T>A (p.Phe116Leu)
NM_017849.4(TMEM127):c.352C>T (p.Pro118Ser)
NM_017849.4(TMEM127):c.353C>A (p.Pro118Gln)
NM_017849.4(TMEM127):c.359A>G (p.His120Arg) rs745385741
NM_017849.4(TMEM127):c.363T>C (p.Pro121=) rs1684170058
NM_017849.4(TMEM127):c.364G>A (p.Ala122Thr) rs1553436990
NM_017849.4(TMEM127):c.365C>T (p.Ala122Val)
NM_017849.4(TMEM127):c.370A>T (p.Lys124Ter) rs1684169953
NM_017849.4(TMEM127):c.371A>G (p.Lys124Arg) rs377430566
NM_017849.4(TMEM127):c.375C>G (p.Ile125Met)
NM_017849.4(TMEM127):c.375C>T (p.Ile125=) rs1260610916
NM_017849.4(TMEM127):c.376A>G (p.Thr126Ala)
NM_017849.4(TMEM127):c.376A>T (p.Thr126Ser) rs1684169726
NM_017849.4(TMEM127):c.378T>A (p.Thr126=)
NM_017849.4(TMEM127):c.378T>C (p.Thr126=) rs770922577
NM_017849.4(TMEM127):c.378TCG[1] (p.Arg128del)
NM_017849.4(TMEM127):c.379C>G (p.Arg127Gly)
NM_017849.4(TMEM127):c.379del (p.Arg127fs)
NM_017849.4(TMEM127):c.380G>C (p.Arg127Pro)
NM_017849.4(TMEM127):c.382C>T (p.Arg128Cys) rs759261535
NM_017849.4(TMEM127):c.383G>T (p.Arg128Leu) rs779277417
NM_017849.4(TMEM127):c.383dup (p.Tyr129fs) rs1684169157
NM_017849.4(TMEM127):c.385T>C (p.Tyr129His)
NM_017849.4(TMEM127):c.386A>G (p.Tyr129Cys)
NM_017849.4(TMEM127):c.387T>C (p.Tyr129=)
NM_017849.4(TMEM127):c.389C>A (p.Ala130Asp)
NM_017849.4(TMEM127):c.389C>T (p.Ala130Val)
NM_017849.4(TMEM127):c.390C>T (p.Ala130=)
NM_017849.4(TMEM127):c.391T>A (p.Phe131Ile) rs1573970081
NM_017849.4(TMEM127):c.394G>T (p.Ala132Ser)
NM_017849.4(TMEM127):c.395C>T (p.Ala132Val) rs1573970073
NM_017849.4(TMEM127):c.396C>T (p.Ala132=) rs2104286934
NM_017849.4(TMEM127):c.397C>G (p.His133Asp)
NM_017849.4(TMEM127):c.397C>T (p.His133Tyr)
NM_017849.4(TMEM127):c.397del (p.His133fs) rs1558752379
NM_017849.4(TMEM127):c.399T>C (p.His133=)
NM_017849.4(TMEM127):c.401T>A (p.Ile134Asn) rs1573970063
NM_017849.4(TMEM127):c.401T>C (p.Ile134Thr)
NM_017849.4(TMEM127):c.402C>A (p.Ile134=) rs1553436974
NM_017849.4(TMEM127):c.403C>A (p.Leu135Ile) rs751854293
NM_017849.4(TMEM127):c.404T>C (p.Leu135Pro) rs1347547225
NM_017849.4(TMEM127):c.408G>A (p.Thr136=) rs143522428
NM_017849.4(TMEM127):c.408G>C (p.Thr136=) rs143522428
NM_017849.4(TMEM127):c.409+11A>G
NM_017849.4(TMEM127):c.409+12G>A
NM_017849.4(TMEM127):c.409+16G>A
NM_017849.4(TMEM127):c.409+17C>G
NM_017849.4(TMEM127):c.409+1G>C rs121908825
NM_017849.4(TMEM127):c.409+1G>T rs121908825
NM_017849.4(TMEM127):c.409+1_409+8del
NM_017849.4(TMEM127):c.409+20A>G rs1553436966
NM_017849.4(TMEM127):c.409+5G>A
NM_017849.4(TMEM127):c.409+8G>C rs749887924
NM_017849.4(TMEM127):c.409+9T>C rs1573970006
NM_017849.4(TMEM127):c.410-10del rs1437132124
NM_017849.4(TMEM127):c.410-11_410-10del
NM_017849.4(TMEM127):c.410-12T>C
NM_017849.4(TMEM127):c.410-13C>T rs2104285437
NM_017849.4(TMEM127):c.410-14C>T rs1182765406
NM_017849.4(TMEM127):c.410-14_410-13dup
NM_017849.4(TMEM127):c.410-18del rs1444758693
NM_017849.4(TMEM127):c.410-19C>T
NM_017849.4(TMEM127):c.410-1G>C
NM_017849.4(TMEM127):c.410-265_625del rs2104283392
NM_017849.4(TMEM127):c.410-2A>C rs121908826
NM_017849.4(TMEM127):c.410-2A>G rs121908826
NM_017849.4(TMEM127):c.410-4C>G
NM_017849.4(TMEM127):c.410-6T>A
NM_017849.4(TMEM127):c.410-9G>A
NM_017849.4(TMEM127):c.412C>G (p.Leu138Val) rs1684153047
NM_017849.4(TMEM127):c.414G>A (p.Leu138=)
NM_017849.4(TMEM127):c.414G>T (p.Leu138=) rs2104285371
NM_017849.4(TMEM127):c.415C>T (p.Gln139Ter)
NM_017849.4(TMEM127):c.416A>G (p.Gln139Arg)
NM_017849.4(TMEM127):c.418T>A (p.Cys140Ser)
NM_017849.4(TMEM127):c.418T>C (p.Cys140Arg) rs121908827
NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr) rs121908828
NM_017849.4(TMEM127):c.424A>G (p.Thr142Ala)
NM_017849.4(TMEM127):c.425C>A (p.Thr142Asn)
NM_017849.4(TMEM127):c.430A>T (p.Ile144Phe) rs896909534
NM_017849.4(TMEM127):c.431T>C (p.Ile144Thr) rs1036821113
NM_017849.4(TMEM127):c.432T>C (p.Ile144=)
NM_017849.4(TMEM127):c.433G>A (p.Gly145Ser)
NM_017849.4(TMEM127):c.434G>C (p.Gly145Ala)
NM_017849.4(TMEM127):c.438_442del (p.Phe146fs)
NM_017849.4(TMEM127):c.443A>T (p.Tyr148Phe) rs1684152230
NM_017849.4(TMEM127):c.446G>C (p.Trp149Ser)
NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter) rs121908829
NM_017849.4(TMEM127):c.448G>C (p.Ala150Pro)
NM_017849.4(TMEM127):c.449C>A (p.Ala150Asp)
NM_017849.4(TMEM127):c.449C>T (p.Ala150Val)
NM_017849.4(TMEM127):c.450T>G (p.Ala150=) rs2104285217
NM_017849.4(TMEM127):c.451T>G (p.Ser151Ala)
NM_017849.4(TMEM127):c.453T>C (p.Ser151=)
NM_017849.4(TMEM127):c.456A>G (p.Glu152=) rs1573969367
NM_017849.4(TMEM127):c.459C>T (p.Leu153=)
NM_017849.4(TMEM127):c.463T>C (p.Leu155=) rs2104285151
NM_017849.4(TMEM127):c.466G>C (p.Ala156Pro)
NM_017849.4(TMEM127):c.468C>T (p.Ala156=) rs749579854
NM_017849.4(TMEM127):c.470A>C (p.Gln157Pro)
NM_017849.4(TMEM127):c.471G>T (p.Gln157His) rs2104285097
NM_017849.4(TMEM127):c.471GCA[5] (p.Gln160dup) rs777748763
NM_017849.4(TMEM127):c.472C>A (p.Gln158Lys) rs769988721
NM_017849.4(TMEM127):c.472C>G (p.Gln158Glu) rs769988721
NM_017849.4(TMEM127):c.473A>G (p.Gln158Arg) rs1231103743
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_017849.4(TMEM127):c.478C>T (p.Gln160Ter) rs1573969322
NM_017849.4(TMEM127):c.482A>G (p.His161Arg) rs778839133
NM_017849.4(TMEM127):c.483_487delinsGCATAAGT (p.His161_Lys163delinsGlnHisLysTer)
NM_017849.4(TMEM127):c.484A>C (p.Lys162Gln)
NM_017849.4(TMEM127):c.490T>C (p.Tyr164His) rs1553436892
NM_017849.4(TMEM127):c.492C>T (p.Tyr164=)
NM_017849.4(TMEM127):c.495T>C (p.His165=)
NM_017849.4(TMEM127):c.496G>A (p.Gly166Arg) rs372120755
NM_017849.4(TMEM127):c.500C>T (p.Ser167Phe) rs994504317
NM_017849.4(TMEM127):c.501C>G (p.Ser167=) rs1269059052
NM_017849.4(TMEM127):c.501C>T (p.Ser167=) rs1269059052
NM_017849.4(TMEM127):c.504G>C (p.Gln168His)
NM_017849.4(TMEM127):c.507C>A (p.Val169=) rs1573969264
NM_017849.4(TMEM127):c.507C>G (p.Val169=) rs1573969264
NM_017849.4(TMEM127):c.509A>G (p.Tyr170Cys)
NM_017849.4(TMEM127):c.511G>C (p.Val171Leu)
NM_017849.4(TMEM127):c.512delinsGCC (p.Val171fs) rs1684149620
NM_017849.4(TMEM127):c.515C>T (p.Thr172Ile)
NM_017849.4(TMEM127):c.516C>T (p.Thr172=)
NM_017849.4(TMEM127):c.518T>G (p.Phe173Cys) rs1684149438
NM_017849.4(TMEM127):c.519C>A (p.Phe173Leu) rs758676810
NM_017849.4(TMEM127):c.523G>C (p.Val175Leu) rs149034651
NM_017849.4(TMEM127):c.523G>T (p.Val175Phe) rs149034651
NM_017849.4(TMEM127):c.526A>G (p.Ser176Gly) rs1553436876
NM_017849.4(TMEM127):c.527G>T (p.Ser176Ile) rs2104284475
NM_017849.4(TMEM127):c.529T>G (p.Phe177Val)
NM_017849.4(TMEM127):c.530del (p.Phe177fs) rs1684148846
NM_017849.4(TMEM127):c.532dup (p.Tyr178fs) rs1553436874
NM_017849.4(TMEM127):c.536T>C (p.Leu179Pro) rs1390368617
NM_017849.4(TMEM127):c.538G>T (p.Val180Leu) rs767100341
NM_017849.4(TMEM127):c.539T>C (p.Val180Ala)
NM_017849.4(TMEM127):c.539dup (p.Ala181fs)
NM_017849.4(TMEM127):c.541dup (p.Ala181fs)
NM_017849.4(TMEM127):c.542_554del (p.Ala181fs) rs1684147771
NM_017849.4(TMEM127):c.543A>G (p.Ala181=) rs2104284290
NM_017849.4(TMEM127):c.545G>C (p.Gly182Ala) rs761885719
NM_017849.4(TMEM127):c.549T>C (p.Ala183=)
NM_017849.4(TMEM127):c.549_572dup (p.Thr191_Ala192insGlyGlyAlaSerIleLeuAlaThr)
NM_017849.4(TMEM127):c.550G>A (p.Gly184Ser) rs1060500597
NM_017849.4(TMEM127):c.550G>C (p.Gly184Arg) rs1060500597
NM_017849.4(TMEM127):c.551G>T (p.Gly184Val)
NM_017849.4(TMEM127):c.552T>A (p.Gly184=)
NM_017849.4(TMEM127):c.553G>A (p.Gly185Arg) rs1553436865
NM_017849.4(TMEM127):c.554G>A (p.Gly185Glu)
NM_017849.4(TMEM127):c.555A>C (p.Gly185=) rs2104284151
NM_017849.4(TMEM127):c.556G>A (p.Ala186Thr)
NM_017849.4(TMEM127):c.556G>T (p.Ala186Ser)
NM_017849.4(TMEM127):c.559T>C (p.Ser187Pro)
NM_017849.4(TMEM127):c.560C>G (p.Ser187Ter)
NM_017849.4(TMEM127):c.560C>T (p.Ser187Leu) rs1684147520
NM_017849.4(TMEM127):c.561A>G (p.Ser187=)
NM_017849.4(TMEM127):c.564C>A (p.Ile188=)
NM_017849.4(TMEM127):c.564C>T (p.Ile188=) rs536921173
NM_017849.4(TMEM127):c.565C>G (p.Leu189Val) rs146965678
NM_017849.4(TMEM127):c.566T>C (p.Leu189Pro)
NM_017849.4(TMEM127):c.567G>A (p.Leu189=) rs776732082
NM_017849.4(TMEM127):c.568G>A (p.Ala190Thr) rs373781978
NM_017849.4(TMEM127):c.569C>A (p.Ala190Asp)
NM_017849.4(TMEM127):c.569C>G (p.Ala190Gly) rs2104284000
NM_017849.4(TMEM127):c.569C>T (p.Ala190Val)
NM_017849.4(TMEM127):c.570C>T (p.Ala190=) rs1553436857
NM_017849.4(TMEM127):c.570del (p.Thr191fs) rs1215337884
NM_017849.4(TMEM127):c.574G>T (p.Ala192Ser)
NM_017849.4(TMEM127):c.575C>T (p.Ala192Val)
NM_017849.4(TMEM127):c.577G>A (p.Ala193Thr)
NM_017849.4(TMEM127):c.582C>T (p.Asn194=) rs2104283819
NM_017849.4(TMEM127):c.583C>T (p.Leu195Phe) rs2104283802
NM_017849.4(TMEM127):c.584T>C (p.Leu195Pro) rs1573969123
NM_017849.4(TMEM127):c.584T>G (p.Leu195Arg) rs1573969123
NM_017849.4(TMEM127):c.586C>T (p.Leu196=)
NM_017849.4(TMEM127):c.587T>G (p.Leu196Arg) rs1684146217
NM_017849.4(TMEM127):c.588G>A (p.Leu196=) rs1684146150
NM_017849.4(TMEM127):c.591C>T (p.Arg197=)
NM_017849.4(TMEM127):c.593A>G (p.His198Arg)
NM_017849.4(TMEM127):c.594C>G (p.His198Gln)
NM_017849.4(TMEM127):c.596A>T (p.Tyr199Phe) rs1573969106
NM_017849.4(TMEM127):c.597C>A (p.Tyr199Ter) rs1684145823
NM_017849.4(TMEM127):c.597C>T (p.Tyr199=)
NM_017849.4(TMEM127):c.598C>A (p.Pro200Thr) rs200351681
NM_017849.4(TMEM127):c.598C>T (p.Pro200Ser) rs200351681
NM_017849.4(TMEM127):c.600C>A (p.Pro200=) rs1060503974
NM_017849.4(TMEM127):c.601A>G (p.Thr201Ala) rs1684144587
NM_017849.4(TMEM127):c.601A>T (p.Thr201Ser) rs1684144587
NM_017849.4(TMEM127):c.603A>C (p.Thr201=) rs1270359170
NM_017849.4(TMEM127):c.604G>A (p.Glu202Lys) rs1429621198
NM_017849.4(TMEM127):c.605A>G (p.Glu202Gly)
NM_017849.4(TMEM127):c.607G>A (p.Glu203Lys) rs2104283542
NM_017849.4(TMEM127):c.608A>C (p.Glu203Ala)
NM_017849.4(TMEM127):c.609A>G (p.Glu203=) rs750072653
NM_017849.4(TMEM127):c.610G>A (p.Glu204Lys)
NM_017849.4(TMEM127):c.612G>C (p.Glu204Asp) rs1684144140
NM_017849.4(TMEM127):c.613G>A (p.Glu205Lys)
NM_017849.4(TMEM127):c.613G>T (p.Glu205Ter)
NM_017849.4(TMEM127):c.613del (p.Glu205fs) rs1684144086
NM_017849.4(TMEM127):c.615G>A (p.Glu205=)
NM_017849.4(TMEM127):c.616C>T (p.Gln206Ter) rs1684143889
NM_017849.4(TMEM127):c.618G>A (p.Gln206=)
NM_017849.4(TMEM127):c.621G>C (p.Ala207=)
NM_017849.4(TMEM127):c.624G>A (p.Leu208=)
NM_017849.4(TMEM127):c.626A>T (p.Glu209Val) rs1285100095
NM_017849.4(TMEM127):c.627G>A (p.Glu209=) rs2104283355
NM_017849.4(TMEM127):c.627_640dup (p.Met214fs) rs121908831
NM_017849.4(TMEM127):c.630G>A (p.Leu210=) rs1573969028
NM_017849.4(TMEM127):c.630G>C (p.Leu210=)
NM_017849.4(TMEM127):c.630G>T (p.Leu210=)
NM_017849.4(TMEM127):c.633C>G (p.Leu211=) rs368792184
NM_017849.4(TMEM127):c.634T>C (p.Ser212Pro) rs775177724
NM_017849.4(TMEM127):c.636A>G (p.Ser212=) rs1573969010
NM_017849.4(TMEM127):c.637G>A (p.Glu213Lys)
NM_017849.4(TMEM127):c.638A>T (p.Glu213Val)
NM_017849.4(TMEM127):c.643G>A (p.Glu215Lys)
NM_017849.4(TMEM127):c.643G>C (p.Glu215Gln)
NM_017849.4(TMEM127):c.644A>G (p.Glu215Gly) rs1573968995
NM_017849.4(TMEM127):c.646G>A (p.Glu216Lys)
NM_017849.4(TMEM127):c.648_649dup (p.Asn217fs) rs2104283140
NM_017849.4(TMEM127):c.652G>A (p.Glu218Lys) rs746291260
NM_017849.4(TMEM127):c.656C>A (p.Pro219His) rs1684141855
NM_017849.4(TMEM127):c.656C>G (p.Pro219Arg) rs1684141855
NM_017849.4(TMEM127):c.659A>G (p.Tyr220Cys) rs2104283046
NM_017849.4(TMEM127):c.661C>G (p.Pro221Ala)
NM_017849.4(TMEM127):c.664G>A (p.Ala222Thr)
NM_017849.4(TMEM127):c.664G>T (p.Ala222Ser)
NM_017849.4(TMEM127):c.665C>G (p.Ala222Gly)
NM_017849.4(TMEM127):c.667G>A (p.Glu223Lys) rs779910556
NM_017849.4(TMEM127):c.669A>G (p.Glu223=)
NM_017849.4(TMEM127):c.669A>T (p.Glu223Asp) rs1431574710
NM_017849.4(TMEM127):c.671A>G (p.Tyr224Cys) rs1060500598
NM_017849.4(TMEM127):c.673G>A (p.Glu225Lys)
NM_017849.4(TMEM127):c.674A>G (p.Glu225Gly) rs1684140913
NM_017849.4(TMEM127):c.674del (p.Glu225fs) rs2104282864
NM_017849.4(TMEM127):c.675G>A (p.Glu225=)
NM_017849.4(TMEM127):c.675G>C (p.Glu225Asp) rs779189359
NM_017849.4(TMEM127):c.677T>C (p.Val226Ala)
NM_017849.4(TMEM127):c.678C>A (p.Val226=)
NM_017849.4(TMEM127):c.679A>G (p.Ile227Val)
NM_017849.4(TMEM127):c.679A>T (p.Ile227Phe) rs1684140655
NM_017849.4(TMEM127):c.683A>G (p.Asn228Ser)
NM_017849.4(TMEM127):c.684C>T (p.Asn228=)
NM_017849.4(TMEM127):c.685C>A (p.Gln229Lys)
NM_017849.4(TMEM127):c.690C>G (p.Phe230Leu) rs1684140585
NM_017849.4(TMEM127):c.690C>T (p.Phe230=) rs1684140585
NM_017849.4(TMEM127):c.694C>T (p.Pro232Ser) rs1684140382
NM_017849.4(TMEM127):c.695C>A (p.Pro232Gln)
NM_017849.4(TMEM127):c.697C>T (p.Pro233Ser)
NM_017849.4(TMEM127):c.698C>A (p.Pro233His)
NM_017849.4(TMEM127):c.699C>G (p.Pro233=)
NM_017849.4(TMEM127):c.700C>G (p.Pro234Ala) rs780992481
NM_017849.4(TMEM127):c.700C>T (p.Pro234Ser)
NM_017849.4(TMEM127):c.701dup (p.Ala235fs)
NM_017849.4(TMEM127):c.702del (p.Ala235fs) rs2104282584
NM_017849.4(TMEM127):c.703G>C (p.Ala235Pro)
NM_017849.4(TMEM127):c.708C>G (p.Tyr236Ter)
NM_017849.4(TMEM127):c.708C>T (p.Tyr236=) rs2104282548
NM_017849.4(TMEM127):c.710C>T (p.Thr237Ile)
NM_017849.4(TMEM127):c.711A>G (p.Thr237=) rs2104282530
NM_017849.4(TMEM127):c.712C>T (p.Pro238Ser) rs1184921725
NM_017849.4(TMEM127):c.713C>T (p.Pro238Leu)
NM_017849.4(TMEM127):c.714C>T (p.Pro238=)
NM_017849.4(TMEM127):c.715T>A (p.Ter239Lys)
NM_017849.4(TMEM127):c.717A>C (p.Ter239Tyr)

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