ClinVar Miner

List of variants in gene SAMD11 studied for not provided

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 907
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HGVS dbSNP gnomAD frequency
NM_001385641.1(SAMD11):c.1516T>C (p.Trp506Arg) rs6672356 0.99984
NM_001385641.1(SAMD11):c.2319C>T (p.Tyr773=) rs7523549 0.08454
NM_001385641.1(SAMD11):c.1475-8C>G rs79037098 0.03448
NM_001385641.1(SAMD11):c.769C>T (p.His257Tyr) rs9988179 0.02893
NM_001385641.1(SAMD11):c.2483G>C (p.Gly828Ala) rs113383096 0.02197
NM_001385641.1(SAMD11):c.1946C>T (p.Pro649Leu) rs148327885 0.00915
NM_001385641.1(SAMD11):c.1940C>T (p.Pro647Leu) rs114478480 0.00864
NM_001385641.1(SAMD11):c.659G>A (p.Arg220Gln) rs148711625 0.00862
NM_001385641.1(SAMD11):c.2415G>A (p.Thr805=) rs116279254 0.00705
NM_001385641.1(SAMD11):c.795C>T (p.Val265=) rs139210662 0.00491
NM_001385641.1(SAMD11):c.2383C>T (p.Leu795Phe) rs116362966 0.00480
NM_001385641.1(SAMD11):c.703G>A (p.Gly235Ser) rs41285790 0.00352
NM_001385641.1(SAMD11):c.1925T>C (p.Val642Ala) rs201580592 0.00268
NM_001385641.1(SAMD11):c.2178+7G>C rs180779437 0.00258
NM_001385641.1(SAMD11):c.850G>A (p.Gly284Ser) rs143282473 0.00233
NM_001385641.1(SAMD11):c.780C>T (p.Ile260=) rs146331776 0.00214
NM_001385641.1(SAMD11):c.1644C>T (p.Asn548=) rs532223862 0.00187
NM_001385641.1(SAMD11):c.700G>A (p.Asp234Asn) rs146327803 0.00162
NM_001385641.1(SAMD11):c.1596G>C (p.Glu532Asp) rs564703450 0.00158
NM_001385641.1(SAMD11):c.1137C>T (p.Ser379=) rs145967298 0.00151
NM_001385641.1(SAMD11):c.930C>T (p.Phe310=) rs147616064 0.00150
NM_001385641.1(SAMD11):c.1195+17G>C rs200584816 0.00147
NM_001385641.1(SAMD11):c.2165G>C (p.Gly722Ala) rs138897766 0.00134
NM_001385641.1(SAMD11):c.775C>T (p.Arg259Cys) rs116730894 0.00133
NM_001385641.1(SAMD11):c.2179-9C>G rs375430553 0.00125
NM_001385641.1(SAMD11):c.2343G>A (p.Leu781=) rs139574491 0.00108
NM_001385641.1(SAMD11):c.2166A>C (p.Gly722=) rs72902602 0.00105
NM_001385641.1(SAMD11):c.2328C>T (p.Ser776=) rs111371881 0.00098
NM_001385641.1(SAMD11):c.2246A>C (p.Asn749Thr) rs146548754 0.00097
NM_001385641.1(SAMD11):c.2053+9C>T rs199710569 0.00092
NM_001385641.1(SAMD11):c.2178+12C>G rs202118659 0.00089
NM_001385641.1(SAMD11):c.2385C>T (p.Leu795=) rs145886346 0.00075
NM_001385641.1(SAMD11):c.1554-18C>T rs544847252 0.00074
NM_001385641.1(SAMD11):c.2411C>G (p.Pro804Arg) rs200048444 0.00074
NM_001385641.1(SAMD11):c.2236C>T (p.Leu746=) rs149790558 0.00064
NM_001385641.1(SAMD11):c.2386G>A (p.Gly796Ser) rs187111693 0.00064
NM_001385641.1(SAMD11):c.1774C>T (p.Arg592Trp) rs546721340 0.00058
NM_001385641.1(SAMD11):c.1593G>A (p.Leu531=) rs781128456 0.00051
NM_001385641.1(SAMD11):c.968-5C>T rs74047412 0.00051
NM_001385641.1(SAMD11):c.740G>A (p.Arg247Gln) rs145442390 0.00049
NM_001385641.1(SAMD11):c.1432C>T (p.Pro478Ser) rs201770125 0.00047
NM_001385641.1(SAMD11):c.1195+55A>G rs370716248 0.00043
NM_001385641.1(SAMD11):c.1960G>C (p.Ala654Pro) rs373258312 0.00041
NM_001385641.1(SAMD11):c.2373G>A (p.Pro791=) rs149846233 0.00040
NM_001385641.1(SAMD11):c.1052C>T (p.Pro351Leu) rs148469698 0.00039
NM_001385641.1(SAMD11):c.1057+20G>A rs201264848 0.00039
NM_001385641.1(SAMD11):c.1518G>C (p.Trp506Cys) rs750509511 0.00038
NM_001385641.1(SAMD11):c.1366C>G (p.Pro456Ala) rs200195897 0.00036
NM_001385641.1(SAMD11):c.620G>A (p.Arg207Gln) rs201186828 0.00032
NM_001385641.1(SAMD11):c.1076G>A (p.Arg359Gln) rs112419559 0.00031
NM_001385641.1(SAMD11):c.1165C>T (p.Arg389Cys) rs139437968 0.00031
NM_001385641.1(SAMD11):c.1057+9G>A rs376466161 0.00030
NM_001385641.1(SAMD11):c.1195+25C>T rs201898716 0.00030
NM_001385641.1(SAMD11):c.1535G>A (p.Arg512Gln) rs766527634 0.00030
NM_001385641.1(SAMD11):c.1475-12C>T rs747869301 0.00029
NM_001385641.1(SAMD11):c.2031C>T (p.Ala677=) rs374552516 0.00029
NM_001385641.1(SAMD11):c.1005T>C (p.Arg335=) rs144608636 0.00027
NM_001385641.1(SAMD11):c.1049C>T (p.Ser350Leu) rs199625867 0.00027
NM_001385641.1(SAMD11):c.1359-5C>T rs772441009 0.00027
NM_001385641.1(SAMD11):c.1500G>A (p.Gln500=) rs745576729 0.00024
NM_001385641.1(SAMD11):c.655G>A (p.Ala219Thr) rs368250686 0.00023
NM_001385641.1(SAMD11):c.1182C>T (p.Gly394=) rs141207077 0.00021
NM_001385641.1(SAMD11):c.1555C>T (p.Leu519=) rs760694478 0.00021
NM_001385641.1(SAMD11):c.1195+24_1195+25insT rs200996316 0.00020
NM_001385641.1(SAMD11):c.843-6C>T rs376758216 0.00018
NM_001385641.1(SAMD11):c.867C>T (p.Leu289=) rs369777247 0.00018
NM_001385641.1(SAMD11):c.910C>T (p.His304Tyr) rs377367586 0.00017
NM_001385641.1(SAMD11):c.1771G>A (p.Ala591Thr) rs767387436 0.00016
NM_001385641.1(SAMD11):c.2418G>A (p.Thr806=) rs202045502 0.00016
NM_001385641.1(SAMD11):c.802C>T (p.His268Tyr) rs144317111 0.00016
NM_001385641.1(SAMD11):c.811G>A (p.Val271Met) rs144010167 0.00016
NM_001385641.1(SAMD11):c.1419C>T (p.Gly473=) rs779964487 0.00015
NM_001385641.1(SAMD11):c.565C>T (p.Pro189Ser) rs200686669 0.00015
NM_001385641.1(SAMD11):c.994C>T (p.Arg332Cys) rs145975434 0.00015
NM_001385641.1(SAMD11):c.1820C>G (p.Pro607Arg) rs1010876057 0.00014
NM_001385641.1(SAMD11):c.610-16C>T rs909001616 0.00014
NM_001385641.1(SAMD11):c.1475-15C>T rs756313467 0.00013
NM_001385641.1(SAMD11):c.737G>A (p.Arg246Gln) rs140751899 0.00012
NM_001385641.1(SAMD11):c.1195G>A (p.Asp399Asn) rs767846263 0.00011
NM_001385641.1(SAMD11):c.1609C>A (p.Gln537Lys) rs749005506 0.00011
NM_001385641.1(SAMD11):c.1865A>G (p.Asp622Gly) rs552457744 0.00011
NM_001385641.1(SAMD11):c.1942A>C (p.Thr648Pro) rs929876209 0.00011
NM_001385641.1(SAMD11):c.2012C>T (p.Pro671Leu) rs751254863 0.00011
NM_001385641.1(SAMD11):c.897C>T (p.Leu299=) rs139857993 0.00011
NM_001385641.1(SAMD11):c.943C>T (p.Leu315=) rs149145706 0.00011
NM_001385641.1(SAMD11):c.1015G>A (p.Asp339Asn) rs754562511 0.00010
NM_001385641.1(SAMD11):c.1414C>T (p.Leu472=) rs771042998 0.00010
NM_001385641.1(SAMD11):c.842+19G>A rs200139083 0.00010
NM_001385641.1(SAMD11):c.1031A>C (p.Lys344Thr) rs369803898 0.00009
NM_001385641.1(SAMD11):c.1086G>A (p.Gly362=) rs746152397 0.00009
NM_001385641.1(SAMD11):c.1553+17G>A rs947529998 0.00009
NM_001385641.1(SAMD11):c.1572C>T (p.Asp524=) rs763856359 0.00009
NM_001385641.1(SAMD11):c.2028T>C (p.Tyr676=) rs370602457 0.00009
NM_001385641.1(SAMD11):c.2030C>T (p.Ala677Val) rs748435147 0.00009
NM_001385641.1(SAMD11):c.2038C>T (p.Pro680Ser) rs201075481 0.00009
NM_001385641.1(SAMD11):c.2289+7C>T rs773558362 0.00009
NM_001385641.1(SAMD11):c.967G>A (p.Gly323Ser) rs146347471 0.00009
NM_001385641.1(SAMD11):c.995G>A (p.Arg332His) rs374848064 0.00009
NM_001385641.1(SAMD11):c.1924G>A (p.Val642Ile) rs745968834 0.00008
NM_001385641.1(SAMD11):c.2299C>T (p.Arg767Cys) rs140566193 0.00008
NM_001385641.1(SAMD11):c.2454C>T (p.Ala818=) rs781320019 0.00008
NM_001385641.1(SAMD11):c.1215G>A (p.Gln405=) rs761147375 0.00007
NM_001385641.1(SAMD11):c.1358+17C>T rs765159245 0.00007
NM_001385641.1(SAMD11):c.1401C>T (p.Ala467=) rs755516762 0.00007
NM_001385641.1(SAMD11):c.1550C>T (p.Ala517Val) rs573022005 0.00007
NM_001385641.1(SAMD11):c.1554-10C>T rs1042077861 0.00007
NM_001385641.1(SAMD11):c.1554-19G>A rs923055895 0.00007
NM_001385641.1(SAMD11):c.1623C>T (p.Pro541=) rs530674665 0.00007
NM_001385641.1(SAMD11):c.1760C>G (p.Ser587Cys) rs761622868 0.00007
NM_001385641.1(SAMD11):c.2366G>A (p.Arg789Gln) rs201551514 0.00007
NM_001385641.1(SAMD11):c.2455G>A (p.Gly819Ser) rs377365499 0.00007
NM_001385641.1(SAMD11):c.904C>G (p.Pro302Ala) rs144490434 0.00007
NM_001385641.1(SAMD11):c.1267C>T (p.Pro423Ser) rs1044063718 0.00006
NM_001385641.1(SAMD11):c.1614G>C (p.Leu538=) rs989378477 0.00006
NM_001385641.1(SAMD11):c.1657G>A (p.Glu553Lys) rs930359981 0.00006
NM_001385641.1(SAMD11):c.1757C>T (p.Pro586Leu) rs1362882035 0.00006
NM_001385641.1(SAMD11):c.2469C>T (p.Pro823=) rs142556056 0.00006
NM_001385641.1(SAMD11):c.834G>A (p.Ala278=) rs148884928 0.00006
NM_001385641.1(SAMD11):c.842+10G>A rs374724433 0.00006
NM_001385641.1(SAMD11):c.1057+19C>T rs72902595 0.00005
NM_001385641.1(SAMD11):c.1073C>T (p.Pro358Leu) rs150205193 0.00005
NM_001385641.1(SAMD11):c.1166G>A (p.Arg389His) rs745305891 0.00005
NM_001385641.1(SAMD11):c.1352C>T (p.Ser451Leu) rs774594600 0.00005
NM_001385641.1(SAMD11):c.1420C>G (p.Pro474Ala) rs748970150 0.00005
NM_001385641.1(SAMD11):c.1452C>T (p.Pro484=) rs781214284 0.00005
NM_001385641.1(SAMD11):c.1546C>T (p.Leu516=) rs375104934 0.00005
NM_001385641.1(SAMD11):c.1552C>T (p.Arg518Trp) rs367769858 0.00005
NM_001385641.1(SAMD11):c.1566C>T (p.Pro522=) rs895034807 0.00005
NM_001385641.1(SAMD11):c.1576C>T (p.Leu526=) rs1385891997 0.00005
NM_001385641.1(SAMD11):c.1585A>G (p.Lys529Glu) rs1028575136 0.00005
NM_001385641.1(SAMD11):c.1786C>T (p.Arg596Trp) rs371254076 0.00005
NM_001385641.1(SAMD11):c.1795G>A (p.Gly599Ser) rs910296298 0.00005
NM_001385641.1(SAMD11):c.1893C>T (p.Asp631=) rs1340830614 0.00005
NM_001385641.1(SAMD11):c.1935G>A (p.Arg645=) rs920502527 0.00005
NM_001385641.1(SAMD11):c.2254C>T (p.Leu752=) rs755269654 0.00005
NM_001385641.1(SAMD11):c.2423C>T (p.Thr808Met) rs199998341 0.00005
NM_001385641.1(SAMD11):c.2440G>A (p.Gly814Ser) rs150903674 0.00005
NM_001385641.1(SAMD11):c.831G>A (p.Glu277=) rs973377432 0.00005
NM_001385641.1(SAMD11):c.849C>T (p.Asp283=) rs770660212 0.00005
NM_001385641.1(SAMD11):c.1057+8C>T rs748201704 0.00004
NM_001385641.1(SAMD11):c.1075C>T (p.Arg359Trp) rs761838880 0.00004
NM_001385641.1(SAMD11):c.1194C>T (p.His398=) rs762476615 0.00004
NM_001385641.1(SAMD11):c.1219G>A (p.Val407Met) rs367710686 0.00004
NM_001385641.1(SAMD11):c.1291C>G (p.Arg431Gly) rs763142780 0.00004
NM_001385641.1(SAMD11):c.1380C>T (p.Pro460=) rs750117036 0.00004
NM_001385641.1(SAMD11):c.1440C>T (p.Phe480=) rs765880255 0.00004
NM_001385641.1(SAMD11):c.1553+20C>T rs769584656 0.00004
NM_001385641.1(SAMD11):c.1637G>A (p.Arg546His) rs1450322707 0.00004
NM_001385641.1(SAMD11):c.1656G>A (p.Glu552=) rs899000751 0.00004
NM_001385641.1(SAMD11):c.1705C>T (p.Pro569Ser) rs1046219267 0.00004
NM_001385641.1(SAMD11):c.1735C>T (p.Pro579Ser) rs1020840285 0.00004
NM_001385641.1(SAMD11):c.1926T>G (p.Val642=) rs1447991290 0.00004
NM_001385641.1(SAMD11):c.1943C>T (p.Thr648Ile) rs983980237 0.00004
NM_001385641.1(SAMD11):c.2014C>T (p.Leu672=) rs1331449991 0.00004
NM_001385641.1(SAMD11):c.2053+15A>G rs373759153 0.00004
NM_001385641.1(SAMD11):c.2164G>C (p.Gly722Arg) rs755417621 0.00004
NM_001385641.1(SAMD11):c.2339C>G (p.Ala780Gly) rs561795769 0.00004
NM_001385641.1(SAMD11):c.2369C>T (p.Ala790Val) rs369313181 0.00004
NM_001385641.1(SAMD11):c.2375A>G (p.Glu792Gly) rs762963735 0.00004
NM_001385641.1(SAMD11):c.2405T>C (p.Leu802Ser) rs138114411 0.00004
NM_001385641.1(SAMD11):c.2446G>A (p.Ala816Thr) rs758965779 0.00004
NM_001385641.1(SAMD11):c.776G>A (p.Arg259His) rs768961023 0.00004
NM_001385641.1(SAMD11):c.810C>T (p.Asp270=) rs139076934 0.00004
NM_001385641.1(SAMD11):c.827G>A (p.Arg276Gln) rs201828504 0.00004
NM_001385641.1(SAMD11):c.864C>T (p.Thr288=) rs141982349 0.00004
NM_001385641.1(SAMD11):c.919C>T (p.Arg307Cys) rs142210309 0.00004
NM_001385641.1(SAMD11):c.1101G>A (p.Pro367=) rs770472086 0.00003
NM_001385641.1(SAMD11):c.1151T>C (p.Phe384Ser) rs368585861 0.00003
NM_001385641.1(SAMD11):c.1271C>T (p.Ser424Phe) rs534726294 0.00003
NM_001385641.1(SAMD11):c.1278G>C (p.Thr426=) rs777070208 0.00003
NM_001385641.1(SAMD11):c.1321G>A (p.Gly441Ser) rs752252633 0.00003
NM_001385641.1(SAMD11):c.1336G>A (p.Ala446Thr) rs571654307 0.00003
NM_001385641.1(SAMD11):c.1358+18G>A rs752158245 0.00003
NM_001385641.1(SAMD11):c.1377C>T (p.Pro459=) rs773855393 0.00003
NM_001385641.1(SAMD11):c.1413C>T (p.Ala471=) rs747301919 0.00003
NM_001385641.1(SAMD11):c.1430G>T (p.Arg477Met) rs1641817090 0.00003
NM_001385641.1(SAMD11):c.1454C>T (p.Ser485Leu) rs1005042443 0.00003
NM_001385641.1(SAMD11):c.1488G>A (p.Leu496=) rs770392637 0.00003
NM_001385641.1(SAMD11):c.1489C>T (p.Pro497Ser) rs1000750610 0.00003
NM_001385641.1(SAMD11):c.1534C>T (p.Arg512Trp) rs1196284645 0.00003
NM_001385641.1(SAMD11):c.1539G>A (p.Lys513=) rs752507072 0.00003
NM_001385641.1(SAMD11):c.1553+12G>A rs780635516 0.00003
NM_001385641.1(SAMD11):c.1573C>T (p.Leu525Phe) rs897255618 0.00003
NM_001385641.1(SAMD11):c.1588G>A (p.Glu530Lys) rs757148458 0.00003
NM_001385641.1(SAMD11):c.1615C>T (p.Leu539=) rs1020493696 0.00003
NM_001385641.1(SAMD11):c.1632C>T (p.Ala544=) rs992853512 0.00003
NM_001385641.1(SAMD11):c.1648G>C (p.Gly550Arg) rs773665411 0.00003
NM_001385641.1(SAMD11):c.1680G>A (p.Leu560=) rs888756801 0.00003
NM_001385641.1(SAMD11):c.1724C>A (p.Pro575His) rs901420898 0.00003
NM_001385641.1(SAMD11):c.1813G>T (p.Ala605Ser) rs778575996 0.00003
NM_001385641.1(SAMD11):c.1906G>A (p.Asp636Asn) rs757977595 0.00003
NM_001385641.1(SAMD11):c.1982G>A (p.Gly661Glu) rs770894660 0.00003
NM_001385641.1(SAMD11):c.2179-10C>T rs770711797 0.00003
NM_001385641.1(SAMD11):c.2179-7C>T rs764692893 0.00003
NM_001385641.1(SAMD11):c.2214G>A (p.Leu738=) rs776469850 0.00003
NM_001385641.1(SAMD11):c.2285C>T (p.Ala762Val) rs145171215 0.00003
NM_001385641.1(SAMD11):c.2315T>C (p.Phe772Ser) rs765177562 0.00003
NM_001385641.1(SAMD11):c.2334C>T (p.Pro778=) rs547912043 0.00003
NM_001385641.1(SAMD11):c.2346A>G (p.Pro782=) rs751058101 0.00003
NM_001385641.1(SAMD11):c.2354C>T (p.Pro785Leu) rs916588855 0.00003
NM_001385641.1(SAMD11):c.2393G>A (p.Gly798Glu) rs369456516 0.00003
NM_001385641.1(SAMD11):c.2532T>G (p.Cys844Trp) rs370766372 0.00003
NM_001385641.1(SAMD11):c.609+5G>A rs1374430336 0.00003
NM_001385641.1(SAMD11):c.613C>T (p.Arg205Trp) rs1381099827 0.00003
NM_001385641.1(SAMD11):c.730T>G (p.Cys244Gly) rs772007449 0.00003
NM_001385641.1(SAMD11):c.739C>T (p.Arg247Trp) rs199655347 0.00003
NM_001385641.1(SAMD11):c.791G>A (p.Arg264Lys) rs762079957 0.00003
NM_001385641.1(SAMD11):c.803A>G (p.His268Arg) rs148774856 0.00003
NM_001385641.1(SAMD11):c.819C>T (p.Ile273=) rs141065105 0.00003
NM_001385641.1(SAMD11):c.863C>G (p.Thr288Ser) rs753652680 0.00003
NM_001385641.1(SAMD11):c.894C>T (p.His298=) rs963613942 0.00003
NM_001385641.1(SAMD11):c.907G>A (p.Glu303Lys) rs766920989 0.00003
NM_001385641.1(SAMD11):c.959G>A (p.Arg320Gln) rs760083651 0.00003
NM_001385641.1(SAMD11):c.968-4G>A rs759350082 0.00003
NM_001385641.1(SAMD11):c.1044C>T (p.Ser348=) rs1385234362 0.00002
NM_001385641.1(SAMD11):c.1117C>T (p.Arg373Trp) rs201596485 0.00002
NM_001385641.1(SAMD11):c.1195+48G>A rs199902603 0.00002
NM_001385641.1(SAMD11):c.1371G>A (p.Gln457=) rs769668577 0.00002
NM_001385641.1(SAMD11):c.1475-18T>A rs1407483572 0.00002
NM_001385641.1(SAMD11):c.1490C>T (p.Pro497Leu) rs1235934471 0.00002
NM_001385641.1(SAMD11):c.1553+8C>G rs777597777 0.00002
NM_001385641.1(SAMD11):c.1561C>T (p.Leu521=) rs1055076620 0.00002
NM_001385641.1(SAMD11):c.1643A>G (p.Asn548Ser) rs1176956891 0.00002
NM_001385641.1(SAMD11):c.1707A>G (p.Pro569=) rs530024725 0.00002
NM_001385641.1(SAMD11):c.1743C>T (p.Ser581=) rs1265077921 0.00002
NM_001385641.1(SAMD11):c.1747C>A (p.Pro583Thr) rs978817347 0.00002
NM_001385641.1(SAMD11):c.1768T>A (p.Ser590Thr) rs1299283879 0.00002
NM_001385641.1(SAMD11):c.1810T>A (p.Ser604Thr) rs879334943 0.00002
NM_001385641.1(SAMD11):c.1814C>T (p.Ala605Val) rs748489927 0.00002
NM_001385641.1(SAMD11):c.1869C>T (p.Gly623=) rs538587665 0.00002
NM_001385641.1(SAMD11):c.1948G>A (p.Gly650Ser) rs763680937 0.00002
NM_001385641.1(SAMD11):c.1978G>A (p.Glu660Lys) rs528834495 0.00002
NM_001385641.1(SAMD11):c.1986G>A (p.Lys662=) rs759587977 0.00002
NM_001385641.1(SAMD11):c.2004C>T (p.Ser668=) rs762403827 0.00002
NM_001385641.1(SAMD11):c.2024C>T (p.Pro675Leu) rs181205550 0.00002
NM_001385641.1(SAMD11):c.2037C>T (p.Ser679=) rs745596123 0.00002
NM_001385641.1(SAMD11):c.2053+20A>G rs765476798 0.00002
NM_001385641.1(SAMD11):c.2176C>T (p.Arg726Trp) rs1240465508 0.00002
NM_001385641.1(SAMD11):c.2178+13C>T rs753584442 0.00002
NM_001385641.1(SAMD11):c.2178+20C>G rs551141616 0.00002
NM_001385641.1(SAMD11):c.2179-20T>A rs745878361 0.00002
NM_001385641.1(SAMD11):c.2188G>A (p.Glu730Lys) rs764513253 0.00002
NM_001385641.1(SAMD11):c.2216C>G (p.Pro739Arg) rs568615971 0.00002
NM_001385641.1(SAMD11):c.2238G>A (p.Leu746=) rs756683670 0.00002
NM_001385641.1(SAMD11):c.2296A>G (p.Arg766Gly) rs1283110348 0.00002
NM_001385641.1(SAMD11):c.2325C>T (p.Ala775=) rs199572036 0.00002
NM_001385641.1(SAMD11):c.2365C>T (p.Arg789Trp) rs749874826 0.00002
NM_001385641.1(SAMD11):c.2402C>T (p.Pro801Leu) rs377435523 0.00002
NM_001385641.1(SAMD11):c.609+16C>T rs755010695 0.00002
NM_001385641.1(SAMD11):c.641T>C (p.Val214Ala) rs776075841 0.00002
NM_001385641.1(SAMD11):c.642C>T (p.Val214=) rs375780070 0.00002
NM_001385641.1(SAMD11):c.711C>T (p.Ser237=) rs1023405473 0.00002
NM_001385641.1(SAMD11):c.768G>A (p.Pro256=) rs558591746 0.00002
NM_001385641.1(SAMD11):c.771C>T (p.His257=) rs544377093 0.00002
NM_001385641.1(SAMD11):c.791+10C>G rs934780386 0.00002
NM_001385641.1(SAMD11):c.842+13C>T rs772855013 0.00002
NM_001385641.1(SAMD11):c.883C>T (p.Arg295Cys) rs548621473 0.00002
NM_001385641.1(SAMD11):c.935G>A (p.Arg312Lys) rs138268010 0.00002
NM_001385641.1(SAMD11):c.941G>T (p.Ser314Ile) rs536409422 0.00002
NM_001385641.1(SAMD11):c.1014C>T (p.Ser338=) rs774365218 0.00001
NM_001385641.1(SAMD11):c.1020C>T (p.Cys340=) rs940100686 0.00001
NM_001385641.1(SAMD11):c.1032G>A (p.Lys344=) rs775399522 0.00001
NM_001385641.1(SAMD11):c.1035G>A (p.Arg345=) rs764088034 0.00001
NM_001385641.1(SAMD11):c.1039C>T (p.Arg347Ter) rs1441881282 0.00001
NM_001385641.1(SAMD11):c.1058-14G>C rs1389599690 0.00001
NM_001385641.1(SAMD11):c.1058-17C>T rs778053212 0.00001
NM_001385641.1(SAMD11):c.1058-18C>T rs1408761189 0.00001
NM_001385641.1(SAMD11):c.1060G>A (p.Ala354Thr) rs201258017 0.00001
NM_001385641.1(SAMD11):c.1061C>T (p.Ala354Val) rs571184504 0.00001
NM_001385641.1(SAMD11):c.1070T>C (p.Leu357Pro) rs1157613686 0.00001
NM_001385641.1(SAMD11):c.1080G>C (p.Glu360Asp) rs778357559 0.00001
NM_001385641.1(SAMD11):c.1115G>A (p.Arg372His) rs763350273 0.00001
NM_001385641.1(SAMD11):c.1120C>G (p.Leu374Val) rs940691355 0.00001
NM_001385641.1(SAMD11):c.1195+23T>C rs1641629538 0.00001
NM_001385641.1(SAMD11):c.1195+46A>T rs777598915 0.00001
NM_001385641.1(SAMD11):c.1195+47C>T rs746798748 0.00001
NM_001385641.1(SAMD11):c.1200C>T (p.Leu400=) rs1443339173 0.00001
NM_001385641.1(SAMD11):c.1228G>A (p.Ala410Thr) rs1449455510 0.00001
NM_001385641.1(SAMD11):c.1254G>A (p.Leu418=) rs1489282990 0.00001
NM_001385641.1(SAMD11):c.1264C>T (p.Leu422=) rs753422510 0.00001
NM_001385641.1(SAMD11):c.1268C>T (p.Pro423Leu) rs754500093 0.00001
NM_001385641.1(SAMD11):c.1282G>A (p.Gly428Ser) rs759641902 0.00001
NM_001385641.1(SAMD11):c.1314C>T (p.His438=) rs1268283703 0.00001
NM_001385641.1(SAMD11):c.1327G>A (p.Ala443Thr) rs777423484 0.00001
NM_001385641.1(SAMD11):c.1347C>T (p.Ser449=) rs770271666 0.00001
NM_001385641.1(SAMD11):c.1358+1G>A rs1641752253 0.00001
NM_001385641.1(SAMD11):c.1358+20T>C rs537599944 0.00001
NM_001385641.1(SAMD11):c.1358+7G>A rs1202823832 0.00001
NM_001385641.1(SAMD11):c.1367C>T (p.Pro456Leu) rs1222949810 0.00001
NM_001385641.1(SAMD11):c.1369C>G (p.Gln457Glu) rs1557609685 0.00001
NM_001385641.1(SAMD11):c.1372C>T (p.Pro458Ser) rs775122845 0.00001
NM_001385641.1(SAMD11):c.1373C>T (p.Pro458Leu) rs1331902306 0.00001
NM_001385641.1(SAMD11):c.1378C>T (p.Pro460Ser) rs761264701 0.00001
NM_001385641.1(SAMD11):c.1392G>A (p.Pro464=) rs760224062 0.00001
NM_001385641.1(SAMD11):c.1418G>A (p.Gly473Asp) rs1487351340 0.00001
NM_001385641.1(SAMD11):c.1426C>T (p.Leu476Phe) rs538838892 0.00001
NM_001385641.1(SAMD11):c.1433C>T (p.Pro478Leu) rs1453804562 0.00001
NM_001385641.1(SAMD11):c.1439T>G (p.Phe480Cys) rs1160476310 0.00001
NM_001385641.1(SAMD11):c.1442T>A (p.Leu481Gln) rs1009501277 0.00001
NM_001385641.1(SAMD11):c.1457C>T (p.Ala486Val) rs749139697 0.00001
NM_001385641.1(SAMD11):c.1469C>T (p.Thr490Ile) rs1221817970 0.00001
NM_001385641.1(SAMD11):c.1474+16C>T rs772711109 0.00001
NM_001385641.1(SAMD11):c.1474+1G>A rs754807700 0.00001
NM_001385641.1(SAMD11):c.1475-6C>T rs777519595 0.00001
NM_001385641.1(SAMD11):c.1479C>T (p.Tyr493=) rs1288886615 0.00001
NM_001385641.1(SAMD11):c.1487T>C (p.Leu496Pro) rs1438127670 0.00001
NM_001385641.1(SAMD11):c.1512C>T (p.Phe504=) rs763354148 0.00001
NM_001385641.1(SAMD11):c.1525G>A (p.Glu509Lys) rs760888844 0.00001
NM_001385641.1(SAMD11):c.1540C>A (p.Gln514Lys) rs1177349298 0.00001
NM_001385641.1(SAMD11):c.1545C>T (p.Asn515=) rs1641843824 0.00001
NM_001385641.1(SAMD11):c.1554-3C>T rs572670330 0.00001
NM_001385641.1(SAMD11):c.1554-9C>T rs924948739 0.00001
NM_001385641.1(SAMD11):c.1567G>A (p.Ala523Thr) rs754095840 0.00001
NM_001385641.1(SAMD11):c.1575C>T (p.Leu525=) rs751368019 0.00001
NM_001385641.1(SAMD11):c.1580G>A (p.Arg527Gln) rs1297360014 0.00001
NM_001385641.1(SAMD11):c.1591C>T (p.Leu531=) rs1353595929 0.00001
NM_001385641.1(SAMD11):c.1598G>A (p.Ser533Asn) rs1641854003 0.00001
NM_001385641.1(SAMD11):c.1619C>A (p.Ala540Glu) rs1384741683 0.00001
NM_001385641.1(SAMD11):c.1629C>T (p.Thr543=) rs1330082435 0.00001
NM_001385641.1(SAMD11):c.1633C>T (p.Leu545=) rs965617519 0.00001
NM_001385641.1(SAMD11):c.1641C>T (p.Pro547=) rs1244492295 0.00001
NM_001385641.1(SAMD11):c.1650C>T (p.Gly550=) rs1434910846 0.00001
NM_001385641.1(SAMD11):c.1672G>T (p.Gly558Trp) rs1253956486 0.00001
NM_001385641.1(SAMD11):c.1677C>T (p.Ala559=) rs1641860334 0.00001
NM_001385641.1(SAMD11):c.1678C>T (p.Leu560=) rs1425404814 0.00001
NM_001385641.1(SAMD11):c.1689G>A (p.Leu563=) rs1169443364 0.00001
NM_001385641.1(SAMD11):c.1695C>G (p.His565Gln) rs1467093930 0.00001
NM_001385641.1(SAMD11):c.1696G>C (p.Gly566Arg) rs1641861633 0.00001
NM_001385641.1(SAMD11):c.1704G>A (p.Ala568=) rs771052376 0.00001
NM_001385641.1(SAMD11):c.1717C>T (p.Leu573=) rs1641863134 0.00001
NM_001385641.1(SAMD11):c.1720C>T (p.Pro574Ser) rs1463321696 0.00001
NM_001385641.1(SAMD11):c.1722C>T (p.Pro574=) rs1557610394 0.00001
NM_001385641.1(SAMD11):c.1727_1790del (p.Gln576fs) rs1557610414 0.00001
NM_001385641.1(SAMD11):c.1740C>T (p.Gly580=) rs1641865263 0.00001
NM_001385641.1(SAMD11):c.1745G>A (p.Gly582Glu) rs774032092 0.00001
NM_001385641.1(SAMD11):c.1746A>G (p.Gly582=) rs1050264682 0.00001
NM_001385641.1(SAMD11):c.1749C>A (p.Pro583=) rs1034416678 0.00001
NM_001385641.1(SAMD11):c.1754C>A (p.Thr585Asn) rs1350553332 0.00001
NM_001385641.1(SAMD11):c.1763G>C (p.Arg588Pro) rs972012141 0.00001
NM_001385641.1(SAMD11):c.1832A>T (p.Lys611Met) rs1162995790 0.00001
NM_001385641.1(SAMD11):c.1841C>T (p.Thr614Met) rs778084644 0.00001
NM_001385641.1(SAMD11):c.1846G>A (p.Ala616Thr) rs747575887 0.00001
NM_001385641.1(SAMD11):c.1852C>T (p.Leu618Phe) rs771428400 0.00001
NM_001385641.1(SAMD11):c.1855T>C (p.Trp619Arg) rs1226380542 0.00001
NM_001385641.1(SAMD11):c.1859C>T (p.Ala620Val) rs1318154423 0.00001
NM_001385641.1(SAMD11):c.1867G>A (p.Gly623Ser) rs769932481 0.00001
NM_001385641.1(SAMD11):c.1879G>A (p.Glu627Lys) rs1417509140 0.00001
NM_001385641.1(SAMD11):c.1883C>A (p.Pro628His) rs1173034140 0.00001
NM_001385641.1(SAMD11):c.1884C>T (p.Pro628=) rs753307284 0.00001
NM_001385641.1(SAMD11):c.1886C>G (p.Pro629Arg) rs754468595 0.00001
NM_001385641.1(SAMD11):c.1896G>T (p.Ser632=) rs998173446 0.00001
NM_001385641.1(SAMD11):c.1909C>T (p.Pro637Ser) rs778182277 0.00001
NM_001385641.1(SAMD11):c.1917G>A (p.Thr639=) rs1475161517 0.00001
NM_001385641.1(SAMD11):c.1937G>A (p.Gly646Glu) rs373433015 0.00001
NM_001385641.1(SAMD11):c.1949G>A (p.Gly650Asp) rs780693928 0.00001
NM_001385641.1(SAMD11):c.1971C>T (p.Ala657=) rs769020010 0.00001
NM_001385641.1(SAMD11):c.1995C>T (p.Phe665=) rs769555424 0.00001
NM_001385641.1(SAMD11):c.2022C>T (p.Phe674=) rs1335585713 0.00001
NM_001385641.1(SAMD11):c.2026T>C (p.Tyr676His) rs755145316 0.00001
NM_001385641.1(SAMD11):c.2049C>T (p.His683=) rs773838876 0.00001
NM_001385641.1(SAMD11):c.2053+13A>G rs1365735023 0.00001
NM_001385641.1(SAMD11):c.2053+18C>G rs755524266 0.00001
NM_001385641.1(SAMD11):c.2053+19_2053+20del rs1260250275 0.00001
NM_001385641.1(SAMD11):c.2178+14C>T rs754581688 0.00001
NM_001385641.1(SAMD11):c.2178+5G>A rs776954950 0.00001
NM_001385641.1(SAMD11):c.2178+6G>T rs1172784961 0.00001
NM_001385641.1(SAMD11):c.2179-12T>C rs773136007 0.00001
NM_001385641.1(SAMD11):c.2179-13C>G rs749497153 0.00001
NM_001385641.1(SAMD11):c.2195G>A (p.Gly732Glu) rs376255105 0.00001
NM_001385641.1(SAMD11):c.2199C>T (p.Ile733=) rs757796286 0.00001
NM_001385641.1(SAMD11):c.2210C>T (p.Thr737Ile) rs1166626263 0.00001
NM_001385641.1(SAMD11):c.2226G>A (p.Thr742=) rs531354544 0.00001
NM_001385641.1(SAMD11):c.2232G>A (p.Glu744=) rs767894513 0.00001
NM_001385641.1(SAMD11):c.2249T>C (p.Met750Thr) rs1387564087 0.00001
NM_001385641.1(SAMD11):c.2253G>A (p.Gly751=) rs1465756833 0.00001
NM_001385641.1(SAMD11):c.2256_2267dup (p.Lys753_Pro756dup) rs772585095 0.00001
NM_001385641.1(SAMD11):c.2260C>G (p.Leu754Val) rs914501002 0.00001
NM_001385641.1(SAMD11):c.2268C>T (p.Pro756=) rs781030281 0.00001
NM_001385641.1(SAMD11):c.2277G>T (p.Lys759Asn) rs769656866 0.00001
NM_001385641.1(SAMD11):c.2289+15A>C rs539460058 0.00001
NM_001385641.1(SAMD11):c.2289+18G>A rs200208120 0.00001
NM_001385641.1(SAMD11):c.2289+5G>A rs1302122905 0.00001
NM_001385641.1(SAMD11):c.2289+8G>A rs1016451158 0.00001
NM_001385641.1(SAMD11):c.2290-14C>T rs371911983 0.00001
NM_001385641.1(SAMD11):c.2290-16G>A rs754874900 0.00001
NM_001385641.1(SAMD11):c.2290G>A (p.Val764Met) rs775454462 0.00001
NM_001385641.1(SAMD11):c.2291T>G (p.Val764Gly) rs763053620 0.00001
NM_001385641.1(SAMD11):c.2300G>A (p.Arg767His) rs762012760 0.00001
NM_001385641.1(SAMD11):c.2308C>T (p.Arg770Ter) rs1372398647 0.00001
NM_001385641.1(SAMD11):c.2316C>T (p.Phe772=) rs752546488 0.00001
NM_001385641.1(SAMD11):c.2327G>C (p.Ser776Thr) rs1185802349 0.00001
NM_001385641.1(SAMD11):c.2335G>A (p.Val779Met) rs996167495 0.00001
NM_001385641.1(SAMD11):c.2337G>A (p.Val779=) rs776438437 0.00001
NM_001385641.1(SAMD11):c.2347C>T (p.Leu783=) rs756994354 0.00001
NM_001385641.1(SAMD11):c.2370C>A (p.Ala790=) rs547529011 0.00001
NM_001385641.1(SAMD11):c.2377C>T (p.Arg793Ter) rs761448939 0.00001
NM_001385641.1(SAMD11):c.2388C>T (p.Gly796=) rs376249278 0.00001
NM_001385641.1(SAMD11):c.2400G>A (p.Gln800=) rs770999837 0.00001
NM_001385641.1(SAMD11):c.2412C>G (p.Pro804=) rs373211387 0.00001
NM_001385641.1(SAMD11):c.2414C>T (p.Thr805Met) rs772533863 0.00001
NM_001385641.1(SAMD11):c.2417C>T (p.Thr806Met) rs372483503 0.00001
NM_001385641.1(SAMD11):c.2421C>T (p.Ala807=) rs1641997545 0.00001
NM_001385641.1(SAMD11):c.2422A>C (p.Thr808Pro) rs753495417 0.00001
NM_001385641.1(SAMD11):c.2437G>A (p.Gly813Arg) rs1397715375 0.00001
NM_001385641.1(SAMD11):c.2445C>T (p.His815=) rs752999505 0.00001
NM_001385641.1(SAMD11):c.2447C>T (p.Ala816Val) rs1317734885 0.00001
NM_001385641.1(SAMD11):c.2486C>T (p.Thr829Ile) rs370493594 0.00001
NM_001385641.1(SAMD11):c.2489T>C (p.Leu830Ser) rs750475157 0.00001
NM_001385641.1(SAMD11):c.2492C>T (p.Ala831Val) rs376960675 0.00001
NM_001385641.1(SAMD11):c.2499T>G (p.Leu833=) rs1324978802 0.00001
NM_001385641.1(SAMD11):c.2503G>A (p.Gly835Arg) rs780701540 0.00001
NM_001385641.1(SAMD11):c.2511C>T (p.Pro837=) rs754435823 0.00001
NM_001385641.1(SAMD11):c.2520C>A (p.Ser840=) rs768092156 0.00001
NM_001385641.1(SAMD11):c.2523G>A (p.Gln841=) rs1298837149 0.00001
NM_001385641.1(SAMD11):c.2524C>A (p.Pro842Thr) rs1642005947 0.00001
NM_001385641.1(SAMD11):c.2525C>T (p.Pro842Leu) rs1239260306 0.00001
NM_001385641.1(SAMD11):c.2527C>G (p.Leu843Val) rs750926602 0.00001
NM_001385641.1(SAMD11):c.2534G>A (p.Ter845=) rs1052573452 0.00001
NM_001385641.1(SAMD11):c.548G>A (p.Gly183Glu) rs1640863258 0.00001
NM_001385641.1(SAMD11):c.552C>T (p.Ile184=) rs1342334044 0.00001
NM_001385641.1(SAMD11):c.572T>C (p.Ile191Thr) rs1030245330 0.00001
NM_001385641.1(SAMD11):c.576C>T (p.Cys192=) rs931465641 0.00001
NM_001385641.1(SAMD11):c.582C>T (p.Cys194=) rs1640864832 0.00001
NM_001385641.1(SAMD11):c.618G>A (p.Gly206=) rs370992396 0.00001
NM_001385641.1(SAMD11):c.619C>T (p.Arg207Trp) rs144245409 0.00001
NM_001385641.1(SAMD11):c.643G>A (p.Ala215Thr) rs770001898 0.00001
NM_001385641.1(SAMD11):c.644C>T (p.Ala215Val) rs776005293 0.00001
NM_001385641.1(SAMD11):c.654C>T (p.Ala218=) rs764574771 0.00001
NM_001385641.1(SAMD11):c.670A>G (p.Lys224Glu) rs903331232 0.00001
NM_001385641.1(SAMD11):c.676C>T (p.Arg226Ter) rs934852613 0.00001
NM_001385641.1(SAMD11):c.681T>G (p.Thr227=) rs752517447 0.00001
NM_001385641.1(SAMD11):c.685A>G (p.Ser229Gly) rs1365703744 0.00001
NM_001385641.1(SAMD11):c.702T>C (p.Asp234=) rs756661577 0.00001
NM_001385641.1(SAMD11):c.715G>A (p.Gly239Arg) rs749652698 0.00001
NM_001385641.1(SAMD11):c.720T>G (p.Ser240Arg) rs774782309 0.00001
NM_001385641.1(SAMD11):c.772A>G (p.Ile258Val) rs779619427 0.00001
NM_001385641.1(SAMD11):c.778A>G (p.Ile260Val) rs575065934 0.00001
NM_001385641.1(SAMD11):c.791+1G>A rs375781587 0.00001
NM_001385641.1(SAMD11):c.792-10C>T rs746130862 0.00001
NM_001385641.1(SAMD11):c.792-14T>G rs771082482 0.00001
NM_001385641.1(SAMD11):c.797A>G (p.His266Arg) rs1179305230 0.00001
NM_001385641.1(SAMD11):c.826C>T (p.Arg276Ter) rs781468828 0.00001
NM_001385641.1(SAMD11):c.842+18C>T rs760657789 0.00001
NM_001385641.1(SAMD11):c.843-15G>A rs1206454604 0.00001
NM_001385641.1(SAMD11):c.846G>A (p.Gln282=) rs540057607 0.00001
NM_001385641.1(SAMD11):c.874A>G (p.Ser292Gly) rs766793967 0.00001
NM_001385641.1(SAMD11):c.929T>G (p.Phe310Cys) rs1020235043 0.00001
NM_001385641.1(SAMD11):c.951T>C (p.Ile317=) rs772679172 0.00001
NM_001385641.1(SAMD11):c.954C>A (p.Gly318=) rs1641406633 0.00001
NM_001385641.1(SAMD11):c.967+11C>T rs1418409404 0.00001
NM_001385641.1(SAMD11):c.968-10C>T rs1229356126 0.00001
NM_001385641.1(SAMD11):c.968-16C>T rs779571221 0.00001
NM_001385641.1(SAMD11):c.987G>A (p.Arg329=) rs1405393352 0.00001
NM_001385641.1(SAMD11):c.997T>C (p.Ser333Pro) rs200848321 0.00001
NM_001385641.1(SAMD11):c.998C>T (p.Ser333Phe) rs1301874403 0.00001
NM_001385641.1(SAMD11):c.999C>G (p.Ser333=) rs558594494 0.00001
NC_000001.10:g.(?_861322)_(861413_?)del
NC_000001.10:g.(?_861322)_(861413_?)dup
NC_000001.10:g.(?_861322)_(865736_?)dup
NC_000001.10:g.(?_861322)_(866489_?)dup
NC_000001.10:g.(?_861322)_(874860_?)dup
NC_000001.10:g.(?_861322)_(876706_?)dup
NC_000001.10:g.(?_861322)_(879533_?)dup
NC_000001.10:g.(?_865515)_(866489_?)dup
NC_000001.10:g.(?_865515)_(879533_?)del
NC_000001.10:g.(?_865515)_(879533_?)dup
NC_000001.10:g.(?_871132)_(879533_?)dup
NC_000001.10:g.(?_874400)_(879533_?)dup
NC_000001.10:g.(?_876504)_(879533_?)dup
NC_000001.10:g.(?_878613)_(879533_?)dup
NM_001385641.1(SAMD11):c.1003C>T (p.Arg335Cys) rs575274130
NM_001385641.1(SAMD11):c.1004G>A (p.Arg335His) rs149677938
NM_001385641.1(SAMD11):c.1004G>T (p.Arg335Leu) rs149677938
NM_001385641.1(SAMD11):c.1015G>T (p.Asp339Tyr) rs754562511
NM_001385641.1(SAMD11):c.1017C>T (p.Asp339=) rs1641609654
NM_001385641.1(SAMD11):c.1029G>A (p.Glu343=) rs2522680741
NM_001385641.1(SAMD11):c.1040G>A (p.Arg347Gln) rs751035336
NM_001385641.1(SAMD11):c.1043G>A (p.Ser348Asn) rs1641610822
NM_001385641.1(SAMD11):c.1045G>A (p.Glu349Lys) rs200099017
NM_001385641.1(SAMD11):c.1045G>C (p.Glu349Gln) rs200099017
NM_001385641.1(SAMD11):c.1050G>A (p.Ser350=) rs574293234
NM_001385641.1(SAMD11):c.1050G>T (p.Ser350=) rs574293234
NM_001385641.1(SAMD11):c.1057+17G>C rs369972134
NM_001385641.1(SAMD11):c.1057+17_1057+18delinsTT rs2100342913
NM_001385641.1(SAMD11):c.1058-15G>A
NM_001385641.1(SAMD11):c.1062G>A (p.Ala354=) rs768456653
NM_001385641.1(SAMD11):c.1062G>T (p.Ala354=) rs768456653
NM_001385641.1(SAMD11):c.1065G>A (p.Leu355=)
NM_001385641.1(SAMD11):c.1068G>A (p.Leu356=) rs74047413
NM_001385641.1(SAMD11):c.1068G>C (p.Leu356=) rs74047413
NM_001385641.1(SAMD11):c.1071G>A (p.Leu357=) rs1260427586
NM_001385641.1(SAMD11):c.1074G>A (p.Pro358=)
NM_001385641.1(SAMD11):c.1074G>T (p.Pro358=) rs148995812
NM_001385641.1(SAMD11):c.1075C>A (p.Arg359=) rs761838880
NM_001385641.1(SAMD11):c.1076G>C (p.Arg359Pro) rs112419559
NM_001385641.1(SAMD11):c.1080G>T (p.Glu360Asp) rs778357559
NM_001385641.1(SAMD11):c.1100C>G (p.Pro367Arg) rs199789235
NM_001385641.1(SAMD11):c.1100C>T (p.Pro367Leu) rs199789235
NM_001385641.1(SAMD11):c.1103A>G (p.Glu368Gly) rs1641623587
NM_001385641.1(SAMD11):c.1104G>C (p.Glu368Asp) rs1356462367
NM_001385641.1(SAMD11):c.1127C>T (p.Ser376Leu) rs1205474814
NM_001385641.1(SAMD11):c.1158C>A (p.Asp386Glu)
NM_001385641.1(SAMD11):c.1178T>G (p.Leu393Arg) rs764593311
NM_001385641.1(SAMD11):c.1188C>T (p.Pro396=) rs2522683222
NM_001385641.1(SAMD11):c.1195+24_1195+25insTCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATC rs1641627795
NM_001385641.1(SAMD11):c.1195+25_1195+72del rs568340123
NM_001385641.1(SAMD11):c.1195+25_1195+72dup rs568340123
NM_001385641.1(SAMD11):c.1195+28del rs1249847085
NM_001385641.1(SAMD11):c.1195+29_1195+76del rs769360416
NM_001385641.1(SAMD11):c.1195+35C>T rs1569901807
NM_001385641.1(SAMD11):c.1195+48_1195+96del rs745625383
NM_001385641.1(SAMD11):c.1195+48_1195+96dup rs745625383
NM_001385641.1(SAMD11):c.1195+52A>G rs2100344321
NM_001385641.1(SAMD11):c.1195+56C>T rs769144118
NM_001385641.1(SAMD11):c.1195+72_1195+73insCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATC rs568340123
NM_001385641.1(SAMD11):c.1195+72_1195+73insCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATC rs568340123
NM_001385641.1(SAMD11):c.1195+72_1195+73insCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATC rs568340123
NM_001385641.1(SAMD11):c.1195+96_1195+97insGGTGAGGACCCACCCTGGCATGATCTCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATCTCCCCTCATCACCTCCCCAGCCAC rs745625383
NM_001385641.1(SAMD11):c.1195+9_1195+10insTACCCTGGCATGATCCCCCTCATCACCTCCCCAGCCACGGTGAGGACC rs1557607457
NM_001385641.1(SAMD11):c.1195_1195+96dup rs2100343960
NM_001385641.1(SAMD11):c.1196-15T>C rs2100351651
NM_001385641.1(SAMD11):c.1196-16G>A
NM_001385641.1(SAMD11):c.1196-20T>C rs2522696419
NM_001385641.1(SAMD11):c.1196-639_1205del rs2100348898
NM_001385641.1(SAMD11):c.1211G>A (p.Arg404Gln) rs1005814595
NM_001385641.1(SAMD11):c.1216G>A (p.Glu406Lys) rs1370063756
NM_001385641.1(SAMD11):c.1221G>A (p.Val407=) rs1206319940
NM_001385641.1(SAMD11):c.1242C>G (p.Gly414=) rs2522696942
NM_001385641.1(SAMD11):c.1243C>T (p.Pro415Ser) rs2522696948
NM_001385641.1(SAMD11):c.1252C>G (p.Leu418Val) rs756009832
NM_001385641.1(SAMD11):c.1263C>G (p.His421Gln) rs2100352030
NM_001385641.1(SAMD11):c.1269C>T (p.Pro423=)
NM_001385641.1(SAMD11):c.1288C>T (p.Arg430Cys) rs1641746770
NM_001385641.1(SAMD11):c.1291C>T (p.Arg431Trp) rs763142780
NM_001385641.1(SAMD11):c.1303C>T (p.Leu435=) rs1569909030
NM_001385641.1(SAMD11):c.1305G>A (p.Leu435=)
NM_001385641.1(SAMD11):c.1312C>T (p.His438Tyr) rs754946907
NM_001385641.1(SAMD11):c.1315C>T (p.Arg439Trp) rs916789337
NM_001385641.1(SAMD11):c.1322G>T (p.Gly441Val) rs1320958509
NM_001385641.1(SAMD11):c.1332_1343dup (p.Ala445_Pro448dup) rs758613821
NM_001385641.1(SAMD11):c.1334C>T (p.Ala445Val) rs1569909178
NM_001385641.1(SAMD11):c.1343C>T (p.Pro448Leu) rs781502726
NM_001385641.1(SAMD11):c.1350C>G (p.Phe450Leu) rs371190871
NM_001385641.1(SAMD11):c.1350C>T (p.Phe450=) rs371190871
NM_001385641.1(SAMD11):c.1354_1355insT (p.Glu452fs) rs2522698049
NM_001385641.1(SAMD11):c.1358+11G>C rs2522698161
NM_001385641.1(SAMD11):c.1358+16C>T rs2522698205
NM_001385641.1(SAMD11):c.1358+23_1358+24del rs747066446
NM_001385641.1(SAMD11):c.1358+9G>C rs2100352486
NM_001385641.1(SAMD11):c.1359-12T>A
NM_001385641.1(SAMD11):c.1359-15C>T rs1161641829
NM_001385641.1(SAMD11):c.1359-18T>C
NM_001385641.1(SAMD11):c.1359-20C>T rs761520263
NM_001385641.1(SAMD11):c.1359-9C>A rs530087426
NM_001385641.1(SAMD11):c.1359-9C>G
NM_001385641.1(SAMD11):c.1359-9C>T rs530087426
NM_001385641.1(SAMD11):c.1365G>A (p.Leu455=) rs778088158
NM_001385641.1(SAMD11):c.1366C>T (p.Pro456Ser) rs200195897
NM_001385641.1(SAMD11):c.1374G>A (p.Pro458=) rs763002998
NM_001385641.1(SAMD11):c.1378C>G (p.Pro460Ala) rs761264701
NM_001385641.1(SAMD11):c.1380dup (p.Leu462fs) rs992574480
NM_001385641.1(SAMD11):c.1382T>A (p.Leu461Ter) rs2522706673
NM_001385641.1(SAMD11):c.1393C>G (p.Gln465Glu) rs766827157
NM_001385641.1(SAMD11):c.1408G>C (p.Val470Leu) rs1308223613
NM_001385641.1(SAMD11):c.1410C>G (p.Val470=) rs2100356343
NM_001385641.1(SAMD11):c.1410C>T (p.Val470=) rs2100356343
NM_001385641.1(SAMD11):c.1411G>T (p.Ala471Ser) rs2100356352
NM_001385641.1(SAMD11):c.1413C>G (p.Ala471=) rs747301919
NM_001385641.1(SAMD11):c.1420C>T (p.Pro474Ser) rs748970150
NM_001385641.1(SAMD11):c.1421_1423del (p.Pro474del) rs1641816267
NM_001385641.1(SAMD11):c.1425T>C (p.His475=) rs2522707140
NM_001385641.1(SAMD11):c.1429A>C (p.Arg477=) rs1011456326
NM_001385641.1(SAMD11):c.1441C>G (p.Leu481Val) rs1001357452
NM_001385641.1(SAMD11):c.1441C>T (p.Leu481=) rs1001357452
NM_001385641.1(SAMD11):c.1449G>A (p.Val483=) rs2522707467
NM_001385641.1(SAMD11):c.1451C>G (p.Pro484Arg) rs200038862
NM_001385641.1(SAMD11):c.1451C>T (p.Pro484Leu) rs200038862
NM_001385641.1(SAMD11):c.1462_1463del (p.Cys488fs) rs1262468865
NM_001385641.1(SAMD11):c.1463G>A (p.Cys488Tyr) rs1014559233
NM_001385641.1(SAMD11):c.1466A>C (p.Gln489Pro) rs2522707746
NM_001385641.1(SAMD11):c.1470C>T (p.Thr490=) rs1641820143
NM_001385641.1(SAMD11):c.1474+10C>T rs1461796673
NM_001385641.1(SAMD11):c.1474+14T>C rs748139871
NM_001385641.1(SAMD11):c.1474+14T>G rs748139871
NM_001385641.1(SAMD11):c.1474+17_1474+18del rs1024943453
NM_001385641.1(SAMD11):c.1474+5G>C rs1269353250
NM_001385641.1(SAMD11):c.1475-8C>A rs79037098
NM_001385641.1(SAMD11):c.1482C>A (p.Gly494=) rs1369448270
NM_001385641.1(SAMD11):c.1482C>T (p.Gly494=) rs1369448270
NM_001385641.1(SAMD11):c.1491C>T (p.Pro497=) rs1456962427
NM_001385641.1(SAMD11):c.1494dup (p.Ala499fs) rs1410048057
NM_001385641.1(SAMD11):c.1514C>G (p.Ala505Gly) rs774760754
NM_001385641.1(SAMD11):c.1515_1516delinsTC (p.Trp506Arg) rs2100357972
NM_001385641.1(SAMD11):c.1516= (p.Trp506=)
NM_001385641.1(SAMD11):c.1524G>A (p.Gln508=) rs1186091688
NM_001385641.1(SAMD11):c.1527G>A (p.Glu509=) rs1376862644
NM_001385641.1(SAMD11):c.1528C>T (p.Leu510Phe) rs1478384002
NM_001385641.1(SAMD11):c.1531C>T (p.Leu511=)
NM_001385641.1(SAMD11):c.1534_1536dup (p.Arg512dup) rs1179386454
NM_001385641.1(SAMD11):c.1548G>A (p.Leu516=) rs1641843993
NM_001385641.1(SAMD11):c.1553+11G>A
NM_001385641.1(SAMD11):c.1553+11G>T rs757208910
NM_001385641.1(SAMD11):c.1553+13A>C rs2522711914
NM_001385641.1(SAMD11):c.1553+14G>T rs1641845826
NM_001385641.1(SAMD11):c.1553+19del rs953081446
NM_001385641.1(SAMD11):c.1553+19dup
NM_001385641.1(SAMD11):c.1553+20C>A rs769584656
NM_001385641.1(SAMD11):c.1553+20C>G
NM_001385641.1(SAMD11):c.1553+22_1553+29dup rs1481499451
NM_001385641.1(SAMD11):c.1553+2_1554-34del rs1336675631
NM_001385641.1(SAMD11):c.1553+4G>C rs1339522436
NM_001385641.1(SAMD11):c.1554-12C>A rs762292178
NM_001385641.1(SAMD11):c.1554-12C>T
NM_001385641.1(SAMD11):c.1554-17G>A rs2100358624
NM_001385641.1(SAMD11):c.1554-17G>C rs2100358624
NM_001385641.1(SAMD11):c.1571A>G (p.Asp524Gly) rs2100358823
NM_001385641.1(SAMD11):c.1585_1587del (p.Lys529del) rs1365443646
NM_001385641.1(SAMD11):c.1587G>A (p.Lys529=) rs1361280891
NM_001385641.1(SAMD11):c.1591C>A (p.Leu531Met) rs1353595929
NM_001385641.1(SAMD11):c.1605C>G (p.Arg535=) rs1424337676
NM_001385641.1(SAMD11):c.1609C>T (p.Gln537Ter) rs749005506
NM_001385641.1(SAMD11):c.1612C>T (p.Leu538=) rs2100359102
NM_001385641.1(SAMD11):c.1615C>A (p.Leu539Met) rs1020493696
NM_001385641.1(SAMD11):c.1621C>G (p.Pro541Ala) rs1401992215
NM_001385641.1(SAMD11):c.1623C>G (p.Pro541=) rs530674665
NM_001385641.1(SAMD11):c.1626G>A (p.Glu542=) rs1641856491
NM_001385641.1(SAMD11):c.1628C>G (p.Thr543Ser) rs2100359189
NM_001385641.1(SAMD11):c.1629C>G (p.Thr543=)
NM_001385641.1(SAMD11):c.1633_1647del (p.Leu545_Asp549del) rs1641856923
NM_001385641.1(SAMD11):c.1642A>G (p.Asn548Asp) rs2522713509
NM_001385641.1(SAMD11):c.1644C>G (p.Asn548Lys) rs532223862
NM_001385641.1(SAMD11):c.1647C>T (p.Asp549=) rs1641858157
NM_001385641.1(SAMD11):c.1668G>C (p.Arg556=) rs1641859600
NM_001385641.1(SAMD11):c.1668del (p.Arg557fs) rs1257524197
NM_001385641.1(SAMD11):c.1670_1671delinsCT (p.Arg557Pro) rs2522713729
NM_001385641.1(SAMD11):c.1687C>G (p.Leu563Val) rs1641861059
NM_001385641.1(SAMD11):c.1692C>T (p.Asn564=) rs1641861290
NM_001385641.1(SAMD11):c.1694_1698dup (p.Ala567fs) rs1641861500
NM_001385641.1(SAMD11):c.1699_1700delinsAA (p.Ala567Lys) rs2522713981
NM_001385641.1(SAMD11):c.1703C>T (p.Ala568Val) rs1183551755
NM_001385641.1(SAMD11):c.1708C>G (p.Leu570Val) rs1342711017
NM_001385641.1(SAMD11):c.1717dup (p.Leu573fs) rs1217063583
NM_001385641.1(SAMD11):c.1722C>A (p.Pro574=)
NM_001385641.1(SAMD11):c.1725C>A (p.Pro575=) rs758006081
NM_001385641.1(SAMD11):c.1725C>G (p.Pro575=) rs758006081
NM_001385641.1(SAMD11):c.1725C>T (p.Pro575=) rs758006081
NM_001385641.1(SAMD11):c.1726del (p.Gln576fs) rs1223597129
NM_001385641.1(SAMD11):c.1726dup (p.Gln576fs) rs1223597129
NM_001385641.1(SAMD11):c.1738G>C (p.Gly580Arg) rs1006932434
NM_001385641.1(SAMD11):c.1747C>T (p.Pro583Ser) rs978817347
NM_001385641.1(SAMD11):c.1749C>T (p.Pro583=) rs1034416678
NM_001385641.1(SAMD11):c.1752C>A (p.Pro584=) rs992819326
NM_001385641.1(SAMD11):c.1752C>G (p.Pro584=) rs992819326
NM_001385641.1(SAMD11):c.1752C>T (p.Pro584=) rs992819326
NM_001385641.1(SAMD11):c.1760C>T (p.Ser587Phe) rs761622868
NM_001385641.1(SAMD11):c.1773C>T (p.Ala591=)
NM_001385641.1(SAMD11):c.1781C>T (p.Ala594Val) rs766053074
NM_001385641.1(SAMD11):c.1782C>T (p.Ala594=) rs1489260819
NM_001385641.1(SAMD11):c.1785C>A (p.Pro595=) rs2100360212
NM_001385641.1(SAMD11):c.1790A>G (p.Lys597Arg) rs2522715129
NM_001385641.1(SAMD11):c.1794G>A (p.Gly598=) rs1641870101
NM_001385641.1(SAMD11):c.1796del (p.Gly599fs) rs990506215
NM_001385641.1(SAMD11):c.1807G>C (p.Ala603Pro) rs1370379893
NM_001385641.1(SAMD11):c.1817G>A (p.Arg606Gln) rs376745814
NM_001385641.1(SAMD11):c.1829C>T (p.Ser610Phe) rs1041991580
NM_001385641.1(SAMD11):c.1841C>A (p.Thr614Lys) rs778084644
NM_001385641.1(SAMD11):c.1842G>C (p.Thr614=) rs1569917129
NM_001385641.1(SAMD11):c.1849A>G (p.Arg617Gly) rs1641873718
NM_001385641.1(SAMD11):c.1851G>A (p.Arg617=)
NM_001385641.1(SAMD11):c.1853T>G (p.Leu618Arg) rs2100360593
NM_001385641.1(SAMD11):c.1868G>A (p.Gly623Asp) rs368804486
NM_001385641.1(SAMD11):c.1870T>C (p.Ser624Pro) rs2522716074
NM_001385641.1(SAMD11):c.1872G>A (p.Ser624=) rs773135934
NM_001385641.1(SAMD11):c.1881del (p.Glu627fs) rs2522716206
NM_001385641.1(SAMD11):c.1882C>T (p.Pro628Ser) rs766360427
NM_001385641.1(SAMD11):c.1895C>T (p.Ser632Leu) rs2100360836
NM_001385641.1(SAMD11):c.1899_1902del (p.Asp633fs) rs1220109335
NM_001385641.1(SAMD11):c.1904_1907dup (p.Asp636fs) rs2522716438
NM_001385641.1(SAMD11):c.1911C>G (p.Pro637=) rs72902601
NM_001385641.1(SAMD11):c.1911C>T (p.Pro637=) rs72902601
NM_001385641.1(SAMD11):c.1912G>C (p.Glu638Gln) rs1024693415
NM_001385641.1(SAMD11):c.1919C>T (p.Ala640Val) rs1427273887
NM_001385641.1(SAMD11):c.1922C>T (p.Ala641Val) rs781629625
NM_001385641.1(SAMD11):c.1929G>A (p.Gly643=) rs142558220
NM_001385641.1(SAMD11):c.1929G>C (p.Gly643=) rs142558220
NM_001385641.1(SAMD11):c.1929G>T (p.Gly643=) rs142558220
NM_001385641.1(SAMD11):c.1933A>G (p.Arg645Gly) rs1641882544
NM_001385641.1(SAMD11):c.1938G>A (p.Gly646=) rs951991576
NM_001385641.1(SAMD11):c.1938G>T (p.Gly646=) rs951991576
NM_001385641.1(SAMD11):c.1938del (p.Thr648fs) rs1233424689
NM_001385641.1(SAMD11):c.1955C>T (p.Ala652Val) rs1387015183
NM_001385641.1(SAMD11):c.1965A>C (p.Gly655=) rs750988618
NM_001385641.1(SAMD11):c.1968G>C (p.Gly656=) rs555112201
NM_001385641.1(SAMD11):c.1976C>G (p.Ala659Gly) rs1474653140
NM_001385641.1(SAMD11):c.1976C>T (p.Ala659Val) rs1474653140
NM_001385641.1(SAMD11):c.2001G>A (p.Gly667=) rs934017363
NM_001385641.1(SAMD11):c.2009T>A (p.Leu670Gln) rs2522717494
NM_001385641.1(SAMD11):c.2019C>T (p.Gly673=)
NM_001385641.1(SAMD11):c.2032G>A (p.Val678Ile) rs1194047459
NM_001385641.1(SAMD11):c.2040C>T (p.Pro680=) rs574517367
NM_001385641.1(SAMD11):c.2046C>T (p.Phe682=) rs993499004
NM_001385641.1(SAMD11):c.2047C>G (p.His683Asp) rs768206279
NM_001385641.1(SAMD11):c.2053+12C>T rs766731202
NM_001385641.1(SAMD11):c.2053+12dup
NM_001385641.1(SAMD11):c.2053+16C>T rs1641893539
NM_001385641.1(SAMD11):c.2053+1_2053+5del rs1641891005
NM_001385641.1(SAMD11):c.2053+3G>T rs767019641
NM_001385641.1(SAMD11):c.2053+8C>A rs1163360535
NM_001385641.1(SAMD11):c.2157T>C (p.Ser719=)
NM_001385641.1(SAMD11):c.2172C>T (p.Tyr724=) rs1341113188
NM_001385641.1(SAMD11):c.2178+10G>C rs761847105
NM_001385641.1(SAMD11):c.2178+11G>T rs767505391
NM_001385641.1(SAMD11):c.2178+11del rs35755565
NM_001385641.1(SAMD11):c.2178+11dup rs35755565
NM_001385641.1(SAMD11):c.2178+18T>A
NM_001385641.1(SAMD11):c.2178+1G>A rs747039482
NM_001385641.1(SAMD11):c.2178+20C>T rs551141616
NM_001385641.1(SAMD11):c.2179-10_2179-7del rs539654690
NM_001385641.1(SAMD11):c.2179-13C>T rs749497153
NM_001385641.1(SAMD11):c.2179-14_2179-7dup
NM_001385641.1(SAMD11):c.2179-17dup rs1557611971
NM_001385641.1(SAMD11):c.2179-18C>T
NM_001385641.1(SAMD11):c.2179-19C>T rs1437140168
NM_001385641.1(SAMD11):c.2179-4C>G rs1275145094
NM_001385641.1(SAMD11):c.2179-7dup rs539654690
NM_001385641.1(SAMD11):c.2179-8C>G rs974960612
NM_001385641.1(SAMD11):c.2179-8C>T rs974960612
NM_001385641.1(SAMD11):c.2185A>G (p.Arg729Gly) rs2100366514
NM_001385641.1(SAMD11):c.2187G>A (p.Arg729=) rs1641970599
NM_001385641.1(SAMD11):c.2202C>A (p.Asp734Glu) rs1397922170
NM_001385641.1(SAMD11):c.2207A>C (p.Glu736Ala) rs755183924
NM_001385641.1(SAMD11):c.2212C>T (p.Leu738=) rs374021935
NM_001385641.1(SAMD11):c.2215C>T (p.Pro739Ser) rs1353793000
NM_001385641.1(SAMD11):c.2218C>T (p.Leu740=) rs2522729616
NM_001385641.1(SAMD11):c.2226G>C (p.Thr742=)
NM_001385641.1(SAMD11):c.2226_2243del (p.Glu743_Thr748del) rs917235239
NM_001385641.1(SAMD11):c.2227G>A (p.Glu743Lys) rs1348392674
NM_001385641.1(SAMD11):c.2228A>T (p.Glu743Val) rs372894077
NM_001385641.1(SAMD11):c.2243C>G (p.Thr748Ser) rs148506094
NM_001385641.1(SAMD11):c.2254C>A (p.Leu752Met) rs755269654
NM_001385641.1(SAMD11):c.2259G>A (p.Lys753=) rs553804060
NM_001385641.1(SAMD11):c.2280C>A (p.Ile760=) rs1044227669
NM_001385641.1(SAMD11):c.2282G>A (p.Arg761Gln) rs748747105
NM_001385641.1(SAMD11):c.2283G>A (p.Arg761=) rs773917565
NM_001385641.1(SAMD11):c.2284G>A (p.Ala762Thr) rs1455101682
NM_001385641.1(SAMD11):c.2286C>G (p.Ala762=) rs2100367109
NM_001385641.1(SAMD11):c.2287C>T (p.Gln763Ter)
NM_001385641.1(SAMD11):c.2289+18G>C rs200208120
NM_001385641.1(SAMD11):c.2289+1G>A rs772384006
NM_001385641.1(SAMD11):c.2290-12A>C rs115454328
NM_001385641.1(SAMD11):c.2290-12A>G rs115454328
NM_001385641.1(SAMD11):c.2290-19C>G rs1046618751
NM_001385641.1(SAMD11):c.2290-1G>A rs2522731237
NM_001385641.1(SAMD11):c.2290-8C>G rs771479164
NM_001385641.1(SAMD11):c.2308C>G (p.Arg770Gly) rs1372398647
NM_001385641.1(SAMD11):c.2310_2311del (p.Val771fs) rs1557612402
NM_001385641.1(SAMD11):c.2310_2311delinsTT (p.Val771Phe) rs2100367899
NM_001385641.1(SAMD11):c.2311G>C (p.Val771Leu) rs754890241
NM_001385641.1(SAMD11):c.2313T>G (p.Val771=)
NM_001385641.1(SAMD11):c.2315_2317del (p.Phe772del) rs1641988621
NM_001385641.1(SAMD11):c.2319C>A (p.Tyr773Ter) rs7523549
NM_001385641.1(SAMD11):c.2320G>A (p.Val774Met)
NM_001385641.1(SAMD11):c.2320G>T (p.Val774Leu) rs777407018
NM_001385641.1(SAMD11):c.2321T>G (p.Val774Gly) rs759224992
NM_001385641.1(SAMD11):c.2324C>G (p.Ala775Gly) rs138668810
NM_001385641.1(SAMD11):c.2324C>T (p.Ala775Val) rs138668810
NM_001385641.1(SAMD11):c.2339C>T (p.Ala780Val) rs561795769
NM_001385641.1(SAMD11):c.2341C>G (p.Leu781Val) rs762794203
NM_001385641.1(SAMD11):c.2356C>A (p.Pro786Thr) rs146050035
NM_001385641.1(SAMD11):c.2356C>G (p.Pro786Ala) rs146050035
NM_001385641.1(SAMD11):c.2361C>T (p.Thr787=) rs1387217327
NM_001385641.1(SAMD11):c.2366G>C (p.Arg789Pro) rs201551514
NM_001385641.1(SAMD11):c.2368G>T (p.Ala790Ser) rs748182628
NM_001385641.1(SAMD11):c.2372C>T (p.Pro791Leu) rs758000568
NM_001385641.1(SAMD11):c.2378G>A (p.Arg793Gln) rs374426973
NM_001385641.1(SAMD11):c.2378G>C (p.Arg793Pro) rs374426973
NM_001385641.1(SAMD11):c.2407T>C (p.Ser803Pro) rs768539639
NM_001385641.1(SAMD11):c.2412_2414del (p.Thr806del) rs2522732510
NM_001385641.1(SAMD11):c.2413A>C (p.Thr805Pro) rs890732763
NM_001385641.1(SAMD11):c.2416A>G (p.Thr806Ala) rs2100368451
NM_001385641.1(SAMD11):c.2417C>G (p.Thr806Arg) rs372483503
NM_001385641.1(SAMD11):c.2423C>A (p.Thr808Lys) rs199998341
NM_001385641.1(SAMD11):c.2424G>A (p.Thr808=) rs142832714
NM_001385641.1(SAMD11):c.2424G>T (p.Thr808=) rs142832714
NM_001385641.1(SAMD11):c.2425_2446del (p.Ser809fs) rs751719239
NM_001385641.1(SAMD11):c.2427C>T (p.Ser809=)
NM_001385641.1(SAMD11):c.2428_2449dup (p.Leu817fs) rs1557612707
NM_001385641.1(SAMD11):c.2433T>C (p.Tyr811=) rs139717535
NM_001385641.1(SAMD11):c.2433T>G (p.Tyr811Ter) rs139717535
NM_001385641.1(SAMD11):c.2438G>A (p.Gly813Glu) rs748103865
NM_001385641.1(SAMD11):c.2439G>C (p.Gly813=) rs771850072
NM_001385641.1(SAMD11):c.2439G>T (p.Gly813=) rs771850072
NM_001385641.1(SAMD11):c.2441G>A (p.Gly814Asp) rs150064100
NM_001385641.1(SAMD11):c.2449C>G (p.Leu817Val) rs1289885731
NM_001385641.1(SAMD11):c.2452G>A (p.Ala818Thr)
NM_001385641.1(SAMD11):c.2454C>A (p.Ala818=) rs781320019
NM_001385641.1(SAMD11):c.2460A>C (p.Gln820His) rs1485806755
NM_001385641.1(SAMD11):c.2464T>C (p.Ser822Pro) rs747909292
NM_001385641.1(SAMD11):c.2472G>A (p.Lys824=)
NM_001385641.1(SAMD11):c.2475G>A (p.Gln825=) rs1370288922
NM_001385641.1(SAMD11):c.2479A>G (p.Asn827Asp) rs760245373
NM_001385641.1(SAMD11):c.2483G>T (p.Gly828Val) rs113383096
NM_001385641.1(SAMD11):c.2484G>A (p.Gly828=) rs149880798
NM_001385641.1(SAMD11):c.2484G>C (p.Gly828=) rs149880798
NM_001385641.1(SAMD11):c.2484G>T (p.Gly828=) rs149880798
NM_001385641.1(SAMD11):c.2487C>A (p.Thr829=) rs752064400
NM_001385641.1(SAMD11):c.2487C>G (p.Thr829=) rs752064400
NM_001385641.1(SAMD11):c.2487C>T (p.Thr829=) rs752064400
NM_001385641.1(SAMD11):c.2492C>G (p.Ala831Gly) rs376960675
NM_001385641.1(SAMD11):c.2494C>T (p.Leu832=) rs547172192
NM_001385641.1(SAMD11):c.2497C>T (p.Leu833Phe) rs777616398
NM_001385641.1(SAMD11):c.2503G>T (p.Gly835Trp) rs780701540
NM_001385641.1(SAMD11):c.2508C>T (p.Ala836=) rs745340654
NM_001385641.1(SAMD11):c.2511dup (p.Asp838fs) rs1642004946
NM_001385641.1(SAMD11):c.2519C>T (p.Ser840Phe) rs2100369006
NM_001385641.1(SAMD11):c.2527_2528del (p.Leu843fs) rs1311268458
NM_001385641.1(SAMD11):c.542C>G (p.Ser181Cys) rs761145583
NM_001385641.1(SAMD11):c.557A>T (p.Gln186Leu) rs754119496
NM_001385641.1(SAMD11):c.599C>T (p.Ser200Phe) rs1329301928
NM_001385641.1(SAMD11):c.606G>T (p.Pro202=) rs889842126
NM_001385641.1(SAMD11):c.609+12G>A rs1569858266
NM_001385641.1(SAMD11):c.609+13G>A rs942779903
NM_001385641.1(SAMD11):c.609+13G>T rs942779903
NM_001385641.1(SAMD11):c.609+14C>T rs2100289613
NM_001385641.1(SAMD11):c.609+1G>A rs2100289567
NM_001385641.1(SAMD11):c.610-13_610-11del rs759150188
NM_001385641.1(SAMD11):c.610-19T>C rs2100306156
NM_001385641.1(SAMD11):c.650C>G (p.Pro217Arg) rs143052291
NM_001385641.1(SAMD11):c.650C>T (p.Pro217Leu) rs143052291
NM_001385641.1(SAMD11):c.656C>T (p.Ala219Val) rs761732159
NM_001385641.1(SAMD11):c.658C>T (p.Arg220Trp) rs767794127
NM_001385641.1(SAMD11):c.664C>T (p.Leu222=) rs2100306465
NM_001385641.1(SAMD11):c.667AAG[1] (p.Lys224del) rs1181839556
NM_001385641.1(SAMD11):c.673G>A (p.Glu225Lys) rs1157485345
NM_001385641.1(SAMD11):c.675G>A (p.Glu225=) rs2100306518
NM_001385641.1(SAMD11):c.677_682delinsTTCTTCTG (p.Arg226fs) rs1641106338
NM_001385641.1(SAMD11):c.683C>G (p.Pro228Arg) rs2522623881
NM_001385641.1(SAMD11):c.690C>T (p.Phe230=) rs1641106936
NM_001385641.1(SAMD11):c.698G>A (p.Ser233Asn) rs758467926
NM_001385641.1(SAMD11):c.714C>T (p.Asp238=) rs780458271
NM_001385641.1(SAMD11):c.716G>C (p.Gly239Ala) rs2100306794
NM_001385641.1(SAMD11):c.717G>A (p.Gly239=) rs2100306801
NM_001385641.1(SAMD11):c.720T>C (p.Ser240=) rs774782309
NM_001385641.1(SAMD11):c.729C>T (p.Thr243=) rs147544000
NM_001385641.1(SAMD11):c.734G>A (p.Gly245Glu) rs2522624244
NM_001385641.1(SAMD11):c.736C>T (p.Arg246Trp) rs1641108930
NM_001385641.1(SAMD11):c.738G>A (p.Arg246=)
NM_001385641.1(SAMD11):c.747C>G (p.Gly249=) rs1335979543
NM_001385641.1(SAMD11):c.767C>G (p.Pro256Arg) rs539026517
NM_001385641.1(SAMD11):c.767C>T (p.Pro256Leu) rs539026517
NM_001385641.1(SAMD11):c.775C>G (p.Arg259Gly) rs116730894
NM_001385641.1(SAMD11):c.776G>T (p.Arg259Leu) rs768961023
NM_001385641.1(SAMD11):c.784_785del (p.Lys262fs) rs2522624763
NM_001385641.1(SAMD11):c.785A>C (p.Lys262Thr) rs954424006
NM_001385641.1(SAMD11):c.791+11C>G rs772587001
NM_001385641.1(SAMD11):c.791+17C>G rs762860451
NM_001385641.1(SAMD11):c.791+18G>A rs201326364
NM_001385641.1(SAMD11):c.791+18G>T
NM_001385641.1(SAMD11):c.791+7G>A rs1313366511
NM_001385641.1(SAMD11):c.791+7G>T rs1313366511
NM_001385641.1(SAMD11):c.792-15C>T rs1229531696
NM_001385641.1(SAMD11):c.792-16G>A rs2100309476
NM_001385641.1(SAMD11):c.792-17T>C rs2100309468
NM_001385641.1(SAMD11):c.792A>G (p.Arg264=) rs1641143770
NM_001385641.1(SAMD11):c.794T>A (p.Val265Asp) rs138703951
NM_001385641.1(SAMD11):c.794T>C (p.Val265Ala) rs138703951
NM_001385641.1(SAMD11):c.796C>T (p.His266Tyr) rs2522628832
NM_001385641.1(SAMD11):c.804C>T (p.His268=) rs2100309632
NM_001385641.1(SAMD11):c.825C>T (p.Phe275=)
NM_001385641.1(SAMD11):c.842+15G>T
NM_001385641.1(SAMD11):c.842+7G>T rs1641145942
NM_001385641.1(SAMD11):c.842+9C>T rs747918838
NM_001385641.1(SAMD11):c.842G>A (p.Ser281Asn) rs2522629026
NM_001385641.1(SAMD11):c.843-16C>T rs762714178
NM_001385641.1(SAMD11):c.843-7T>C rs913576121
NM_001385641.1(SAMD11):c.843-9G>A rs371466225
NM_001385641.1(SAMD11):c.843-9G>T rs371466225
NM_001385641.1(SAMD11):c.877G>A (p.Val293Ile) rs754952420
NM_001385641.1(SAMD11):c.881A>G (p.His294Arg) rs1569889088
NM_001385641.1(SAMD11):c.882C>A (p.His294Gln) rs1157344132
NM_001385641.1(SAMD11):c.882C>T (p.His294=) rs1157344132
NM_001385641.1(SAMD11):c.890G>T (p.Arg297Leu) rs756140787
NM_001385641.1(SAMD11):c.897C>G (p.Leu299=) rs139857993
NM_001385641.1(SAMD11):c.903G>T (p.Met301Ile) rs1322022106
NM_001385641.1(SAMD11):c.906C>G (p.Pro302=) rs28419423
NM_001385641.1(SAMD11):c.906C>T (p.Pro302=) rs28419423
NM_001385641.1(SAMD11):c.907G>C (p.Glu303Gln) rs766920989
NM_001385641.1(SAMD11):c.913C>T (p.Gln305Ter) rs2100330266
NM_001385641.1(SAMD11):c.918C>G (p.Ser306Arg) rs375122052
NM_001385641.1(SAMD11):c.919_921dup (p.Arg307dup) rs2100330284
NM_001385641.1(SAMD11):c.920G>A (p.Arg307His) rs149944086
NM_001385641.1(SAMD11):c.920G>C (p.Arg307Pro) rs149944086
NM_001385641.1(SAMD11):c.921C>T (p.Arg307=) rs764294659
NM_001385641.1(SAMD11):c.922T>C (p.Cys308Arg) rs2100330325
NM_001385641.1(SAMD11):c.924T>G (p.Cys308Trp) rs2522659576
NM_001385641.1(SAMD11):c.927A>C (p.Glu309Asp) rs2522659587
NM_001385641.1(SAMD11):c.934A>T (p.Arg312Ter) rs1424123815
NM_001385641.1(SAMD11):c.940_958dup (p.Arg320fs) rs2100330388
NM_001385641.1(SAMD11):c.953G>A (p.Gly318Asp) rs1276148894
NM_001385641.1(SAMD11):c.962C>T (p.Pro321Leu) rs2100330462
NM_001385641.1(SAMD11):c.964G>A (p.Ala322Thr) rs762953021
NM_001385641.1(SAMD11):c.966C>G (p.Ala322=) rs148386909
NM_001385641.1(SAMD11):c.967+13G>A rs1359619021
NM_001385641.1(SAMD11):c.967+15G>C rs1334409529
NM_001385641.1(SAMD11):c.967+17G>T rs778930052
NM_001385641.1(SAMD11):c.967+20_967+46del rs2100330571
NM_001385641.1(SAMD11):c.999C>T (p.Ser333=) rs558594494

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