ClinVar Miner

List of variants in gene DNM2 studied for intermediate Charcot-Marie-Tooth disease

Included ClinVar conditions (34):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1063
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HGVS dbSNP gnomAD frequency
NM_001005361.3(DNM2):c.236-29C>G rs3826803 0.56569
NM_001005361.3(DNM2):c.2139T>C (p.Ala713=) rs2229920 0.30148
NM_001005361.3(DNM2):c.*268A>T rs12461992 0.17591
NM_001005361.3(DNM2):c.*385C>T rs78160240 0.03446
NM_001005361.3(DNM2):c.1077C>T (p.Gly359=) rs112238216 0.02416
NM_001005361.3(DNM2):c.2484G>A (p.Pro828=) rs114682382 0.01064
NM_001005361.3(DNM2):c.235+12C>A rs147026993 0.00953
NM_001005361.3(DNM2):c.1782-11C>T rs78580529 0.00921
NM_001005361.3(DNM2):c.235+6A>G rs113192269 0.00748
NM_001005361.3(DNM2):c.1196+773C>T rs150975494 0.00628
NM_001005361.3(DNM2):c.*47G>A rs367938944 0.00550
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001005361.3(DNM2):c.236-8C>G rs143084059 0.00361
NM_001005361.3(DNM2):c.519T>C (p.Ala173=) rs77702567 0.00359
NM_001005361.3(DNM2):c.1545+14C>G rs114713494 0.00350
NM_001005361.3(DNM2):c.*671T>C rs190696940 0.00325
NM_001005361.3(DNM2):c.190G>A (p.Val64Ile) rs144250390 0.00243
NM_001005361.3(DNM2):c.1781+17C>A rs75344643 0.00220
NM_001005361.3(DNM2):c.643G>A (p.Asp215Asn) rs145478270 0.00168
NM_001005361.3(DNM2):c.2160C>T (p.Asp720=) rs117598326 0.00163
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001005361.3(DNM2):c.*185A>C rs570774479 0.00135
NM_001005361.3(DNM2):c.238C>T (p.His80Tyr) rs148790687 0.00123
NM_001005361.3(DNM2):c.386-6T>A rs114623441 0.00118
NM_001005361.3(DNM2):c.1782-5C>T rs200103145 0.00113
NM_001005361.3(DNM2):c.2061G>A (p.Thr687=) rs149164657 0.00102
NM_001005361.3(DNM2):c.*607G>A rs117954916 0.00085
NM_001005361.3(DNM2):c.788C>T (p.Pro263Leu) rs3745674 0.00043
NM_001005361.3(DNM2):c.*88C>G rs886054143 0.00038
NM_001005361.3(DNM2):c.*82C>T rs569502521 0.00036
NM_001005361.3(DNM2):c.1493+12T>C rs200489732 0.00036
NM_001005361.3(DNM2):c.*10G>A rs200188660 0.00029
NM_001005361.3(DNM2):c.589+17G>T rs374377836 0.00028
NM_001005361.3(DNM2):c.645C>T (p.Asp215=) rs148900299 0.00028
NM_001005361.3(DNM2):c.2511G>A (p.Arg837=) rs200100669 0.00027
NM_001005361.3(DNM2):c.*321A>G rs149937994 0.00026
NM_001005361.3(DNM2):c.958G>A (p.Asp320Asn) rs150613209 0.00026
NM_001005361.3(DNM2):c.2179C>T (p.His727Tyr) rs142963320 0.00024
NM_001005361.3(DNM2):c.1546-16C>T rs375554484 0.00022
NM_001005361.3(DNM2):c.1893+18G>A rs368748557 0.00022
NM_001005361.3(DNM2):c.2567G>A (p.Ser856Asn) rs149825590 0.00021
NM_001005361.3(DNM2):c.*79G>A rs550692861 0.00020
NM_001005361.3(DNM2):c.882G>A (p.Pro294=) rs144790170 0.00018
NM_001005361.3(DNM2):c.480C>T (p.Ile160=) rs140036663 0.00017
NM_001005361.3(DNM2):c.*453C>T rs200104482 0.00016
NM_001005361.3(DNM2):c.528C>T (p.Pro176=) rs147579870 0.00015
NM_001005361.3(DNM2):c.1423-12G>A rs376753915 0.00014
NM_001005361.3(DNM2):c.2514C>T (p.Ile838=) rs200782592 0.00014
NM_001005361.3(DNM2):c.789G>A (p.Pro263=) rs199976453 0.00014
NM_001005361.3(DNM2):c.822G>A (p.Thr274=) rs201763720 0.00014
NM_001005361.3(DNM2):c.839C>T (p.Thr280Met) rs202155679 0.00014
NM_001005361.3(DNM2):c.1645T>A (p.Ser549Thr) rs144763522 0.00013
NM_001005361.3(DNM2):c.1827C>T (p.Ser609=) rs371412466 0.00013
NM_001005361.3(DNM2):c.1422+9C>T rs199952853 0.00012
NM_001005361.3(DNM2):c.957C>T (p.Pro319=) rs141911457 0.00012
NM_001005361.3(DNM2):c.1196+711A>T rs186762327 0.00011
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala) rs201575500 0.00011
NM_001005361.3(DNM2):c.1659C>T (p.Tyr553=) rs1399189951 0.00011
NM_001005361.3(DNM2):c.2592C>T (p.Ala864=) rs373161548 0.00011
NM_001005361.3(DNM2):c.316G>A (p.Asp106Asn) rs375151459 0.00011
NM_001005361.3(DNM2):c.*14C>T rs369529119 0.00010
NM_001005361.3(DNM2):c.*391C>T rs886054147 0.00009
NM_001005361.3(DNM2):c.1196+18A>G rs375880464 0.00009
NM_001005361.3(DNM2):c.2176T>C (p.Tyr726His) rs370459176 0.00009
NM_001005361.3(DNM2):c.2253T>C (p.Pro751=) rs200155565 0.00009
NM_001005361.3(DNM2):c.2313G>A (p.Pro771=) rs147463138 0.00009
NM_001005361.3(DNM2):c.2425A>G (p.Ile809Val) rs144133111 0.00009
NM_001005361.3(DNM2):c.2543+6G>T rs531145240 0.00009
NM_001005361.3(DNM2):c.315C>T (p.Thr105=) rs111837150 0.00009
NM_001005361.3(DNM2):c.555C>T (p.Asp185=) rs140788791 0.00009
NM_001005361.3(DNM2):c.633C>T (p.Asp211=) rs200191870 0.00009
NM_001005361.3(DNM2):c.1196+652C>T rs377319162 0.00008
NM_001005361.3(DNM2):c.666C>T (p.Asn222=) rs2229921 0.00008
NM_001005361.3(DNM2):c.876G>A (p.Ser292=) rs749140605 0.00008
NM_001005361.3(DNM2):c.1377C>T (p.Ile459=) rs369345296 0.00007
NM_001005361.3(DNM2):c.1671+13C>T rs374047080 0.00007
NM_001005361.3(DNM2):c.234A>G (p.Thr78=) rs747545894 0.00007
NM_001005361.3(DNM2):c.*373G>A rs906210543 0.00006
NM_001005361.3(DNM2):c.1196+628G>C rs374376619 0.00006
NM_001005361.3(DNM2):c.1196+778G>C rs763908447 0.00006
NM_001005361.3(DNM2):c.1437C>T (p.Ile479=) rs146506201 0.00006
NM_001005361.3(DNM2):c.1449G>A (p.Gln483=) rs750299400 0.00006
NM_001005361.3(DNM2):c.1558-7C>A rs184310103 0.00006
NM_001005361.3(DNM2):c.1782-4G>A rs767424969 0.00006
NM_001005361.3(DNM2):c.1893+10C>T rs147321173 0.00006
NM_001005361.3(DNM2):c.2074C>T (p.His692Tyr) rs752473055 0.00006
NM_001005361.3(DNM2):c.2106G>C (p.Ser702=) rs554971107 0.00006
NM_001005361.3(DNM2):c.213G>A (p.Leu71=) rs375324714 0.00006
NM_001005361.3(DNM2):c.2151G>A (p.Gln717=) rs543921898 0.00006
NM_001005361.3(DNM2):c.2231T>C (p.Val744Ala) rs777609224 0.00006
NM_001005361.3(DNM2):c.312G>A (p.Glu104=) rs144970326 0.00006
NM_001005361.3(DNM2):c.385+14G>T rs768651962 0.00006
NM_001005361.3(DNM2):c.450A>G (p.Pro150=) rs766121627 0.00006
NM_001005361.3(DNM2):c.535A>G (p.Met179Val) rs748887276 0.00006
NM_001005361.3(DNM2):c.543G>A (p.Leu181=) rs374823728 0.00006
NM_001005361.3(DNM2):c.601A>G (p.Ile201Val) rs969140793 0.00006
NM_001005361.3(DNM2):c.1881C>G (p.Pro627=) rs767496363 0.00005
NM_001005361.3(DNM2):c.1944A>G (p.Gln648=) rs541331101 0.00005
NM_001005361.3(DNM2):c.1965C>T (p.Thr655=) rs201972896 0.00005
NM_001005361.3(DNM2):c.1969C>T (p.Arg657Cys) rs772920450 0.00005
NM_001005361.3(DNM2):c.2305C>T (p.Arg769Cys) rs374864354 0.00005
NM_001005361.3(DNM2):c.2312C>T (p.Pro771Leu) rs202060910 0.00005
NM_001005361.3(DNM2):c.384C>T (p.His128=) rs201089328 0.00005
NM_001005361.3(DNM2):c.591C>T (p.Gly197=) rs372235062 0.00005
NM_001005361.3(DNM2):c.792C>A (p.Ala264=) rs530978513 0.00005
NM_001005361.3(DNM2):c.868C>T (p.Arg290Trp) rs587778235 0.00005
NM_001005361.3(DNM2):c.1032C>T (p.Ile344=) rs747050783 0.00004
NM_001005361.3(DNM2):c.1196+603C>T rs745481476 0.00004
NM_001005361.3(DNM2):c.1336-13C>T rs369058231 0.00004
NM_001005361.3(DNM2):c.1373G>A (p.Arg458Gln) rs375653221 0.00004
NM_001005361.3(DNM2):c.1456A>G (p.Ile486Val) rs758246840 0.00004
NM_001005361.3(DNM2):c.162-16T>C rs573469750 0.00004
NM_001005361.3(DNM2):c.1837G>A (p.Val613Met) rs748286191 0.00004
NM_001005361.3(DNM2):c.1893+17C>T rs45585238 0.00004
NM_001005361.3(DNM2):c.189C>T (p.Ile63=) rs371493258 0.00004
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met) rs757366208 0.00004
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met) rs202136528 0.00004
NM_001005361.3(DNM2):c.2276G>A (p.Ser759Asn) rs879254300 0.00004
NM_001005361.3(DNM2):c.2291+4C>T rs200408852 0.00004
NM_001005361.3(DNM2):c.2292-15T>A rs534518685 0.00004
NM_001005361.3(DNM2):c.2418G>A (p.Ala806=) rs200968756 0.00004
NM_001005361.3(DNM2):c.327G>A (p.Thr109=) rs369843334 0.00004
NM_001005361.3(DNM2):c.453C>T (p.Asp151=) rs201681441 0.00004
NM_001005361.3(DNM2):c.497G>A (p.Arg166Gln) rs200002469 0.00004
NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln) rs117398902 0.00004
NM_001005361.3(DNM2):c.993-14C>T rs761380478 0.00004
NM_001005361.3(DNM2):c.*601C>T rs185820576 0.00003
NM_001005361.3(DNM2):c.1041A>C (p.Ser347=) rs764163643 0.00003
NM_001005361.3(DNM2):c.1196+11C>T rs773099792 0.00003
NM_001005361.3(DNM2):c.1196+625C>T rs542089703 0.00003
NM_001005361.3(DNM2):c.1196+640G>A rs774748942 0.00003
NM_001005361.3(DNM2):c.1358G>A (p.Arg453Gln) rs140043676 0.00003
NM_001005361.3(DNM2):c.1372C>G (p.Arg458Gly) rs745748213 0.00003
NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile) rs143992936 0.00003
NM_001005361.3(DNM2):c.1423-9C>G rs371006369 0.00003
NM_001005361.3(DNM2):c.1461C>T (p.Asn487=) rs780182969 0.00003
NM_001005361.3(DNM2):c.1518G>C (p.Leu506=) rs201426481 0.00003
NM_001005361.3(DNM2):c.1558-13C>T rs755260650 0.00003
NM_001005361.3(DNM2):c.1558-15C>T rs946792072 0.00003
NM_001005361.3(DNM2):c.162-9C>A rs200736669 0.00003
NM_001005361.3(DNM2):c.177C>A (p.Arg59=) rs762795230 0.00003
NM_001005361.3(DNM2):c.1839G>T (p.Val613=) rs200146468 0.00003
NM_001005361.3(DNM2):c.1858T>C (p.Phe620Leu) rs1274228418 0.00003
NM_001005361.3(DNM2):c.1873G>A (p.Val625Ile) rs759242886 0.00003
NM_001005361.3(DNM2):c.1922A>G (p.Asn641Ser) rs767924770 0.00003
NM_001005361.3(DNM2):c.2016C>T (p.Arg672=) rs368131004 0.00003
NM_001005361.3(DNM2):c.2031G>A (p.Lys677=) rs768285660 0.00003
NM_001005361.3(DNM2):c.2295C>T (p.Pro765=) rs1040102521 0.00003
NM_001005361.3(DNM2):c.235+9G>T rs369596325 0.00003
NM_001005361.3(DNM2):c.2376C>A (p.Pro792=) rs781478890 0.00003
NM_001005361.3(DNM2):c.2452G>A (p.Val818Met) rs755608537 0.00003
NM_001005361.3(DNM2):c.2523G>T (p.Gly841=) rs1028907663 0.00003
NM_001005361.3(DNM2):c.471G>A (p.Lys157=) rs757708760 0.00003
NM_001005361.3(DNM2):c.677C>T (p.Pro226Leu) rs779734638 0.00003
NM_001005361.3(DNM2):c.700G>C (p.Val234Leu) rs377159042 0.00003
NM_001005361.3(DNM2):c.750A>G (p.Ala250=) rs202214529 0.00003
NM_001005361.3(DNM2):c.890G>A (p.Arg297His) rs763894364 0.00003
NM_001005361.3(DNM2):c.906C>T (p.Ser302=) rs1314241405 0.00003
NM_001005361.3(DNM2):c.992+11C>T rs761511769 0.00003
NM_001005361.3(DNM2):c.1128+12C>T rs537132157 0.00002
NM_001005361.3(DNM2):c.1196+613C>T rs530195152 0.00002
NM_001005361.3(DNM2):c.1196+710G>A rs140208362 0.00002
NM_001005361.3(DNM2):c.1494-18T>A rs1165508486 0.00002
NM_001005361.3(DNM2):c.1552A>C (p.Ile518Leu) rs753402698 0.00002
NM_001005361.3(DNM2):c.1641C>A (p.Ala547=) rs538253489 0.00002
NM_001005361.3(DNM2):c.1671+14G>A rs767768534 0.00002
NM_001005361.3(DNM2):c.1731G>A (p.Lys577=) rs35365412 0.00002
NM_001005361.3(DNM2):c.1786G>A (p.Val596Ile) rs763762422 0.00002
NM_001005361.3(DNM2):c.1836C>T (p.Asp612=) rs767061986 0.00002
NM_001005361.3(DNM2):c.1893+19C>A rs1327397775 0.00002
NM_001005361.3(DNM2):c.1912G>A (p.Ala638Thr) rs587778236 0.00002
NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val) rs375577182 0.00002
NM_001005361.3(DNM2):c.2291+5G>A rs747057769 0.00002
NM_001005361.3(DNM2):c.2309G>A (p.Arg770Gln) rs768817257 0.00002
NM_001005361.3(DNM2):c.2327A>C (p.His776Pro) rs1277774683 0.00002
NM_001005361.3(DNM2):c.2328C>G (p.His776Gln) rs766387630 0.00002
NM_001005361.3(DNM2):c.2337C>A (p.Gly779=) rs759073717 0.00002
NM_001005361.3(DNM2):c.414G>A (p.Pro138=) rs1222869455 0.00002
NM_001005361.3(DNM2):c.525G>A (p.Thr175=) rs748120401 0.00002
NM_001005361.3(DNM2):c.552C>T (p.Ser184=) rs769028557 0.00002
NM_001005361.3(DNM2):c.637G>T (p.Gly213Cys) rs767908123 0.00002
NM_001005361.3(DNM2):c.676C>T (p.Pro226Ser) rs757892950 0.00002
NM_001005361.3(DNM2):c.678G>A (p.Pro226=) rs746637292 0.00002
NM_001005361.3(DNM2):c.797G>A (p.Arg266Gln) rs754507545 0.00002
NM_001005361.3(DNM2):c.801C>T (p.His267=) rs780755800 0.00002
NM_001005361.3(DNM2):c.812G>A (p.Arg271His) rs781546006 0.00002
NM_001005361.3(DNM2):c.849+20G>A rs995166192 0.00002
NM_001005361.3(DNM2):c.889C>T (p.Arg297Cys) rs760254039 0.00002
NM_001005361.3(DNM2):c.919C>G (p.Leu307Val) rs755458594 0.00002
NM_001005361.3(DNM2):c.992+12G>A rs374572993 0.00002
NM_001005361.3(DNM2):c.*106T>C rs886054144 0.00001
NM_001005361.3(DNM2):c.*214C>T rs1271831719 0.00001
NM_001005361.3(DNM2):c.1062G>A (p.Leu354=) rs1294460166 0.00001
NM_001005361.3(DNM2):c.1071C>T (p.Ser357=) rs779241319 0.00001
NM_001005361.3(DNM2):c.1095C>A (p.Ile365=) rs746959606 0.00001
NM_001005361.3(DNM2):c.1101C>T (p.His367=) rs768651920 0.00001
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp) rs121909090 0.00001
NM_001005361.3(DNM2):c.1110C>T (p.Phe370=) rs201700534 0.00001
NM_001005361.3(DNM2):c.1128+13G>A rs772437963 0.00001
NM_001005361.3(DNM2):c.1128+5T>G rs2071835923 0.00001
NM_001005361.3(DNM2):c.1129-6T>C rs1190685421 0.00001
NM_001005361.3(DNM2):c.1196+626G>A rs773756665 0.00001
NM_001005361.3(DNM2):c.1196+677G>A rs763986985 0.00001
NM_001005361.3(DNM2):c.1196+698C>A rs879253980 0.00001
NM_001005361.3(DNM2):c.1196+703A>G rs1460963465 0.00001
NM_001005361.3(DNM2):c.1196+709C>T rs1459325416 0.00001
NM_001005361.3(DNM2):c.1196+735A>G rs778187114 0.00001
NM_001005361.3(DNM2):c.1196+747A>G rs1280243348 0.00001
NM_001005361.3(DNM2):c.1196+771C>T rs775754391 0.00001
NM_001005361.3(DNM2):c.1336-20C>T rs376646009 0.00001
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp) rs372593558 0.00001
NM_001005361.3(DNM2):c.1352G>A (p.Arg451Gln) rs749154067 0.00001
NM_001005361.3(DNM2):c.1380C>T (p.Val460=) rs2072021814 0.00001
NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln) rs776126973 0.00001
NM_001005361.3(DNM2):c.1413G>A (p.Thr471=) rs2072022940 0.00001
NM_001005361.3(DNM2):c.1418A>T (p.Asp473Val) rs766613900 0.00001
NM_001005361.3(DNM2):c.1423-13C>T rs771343870 0.00001
NM_001005361.3(DNM2):c.1423-4C>T rs552776205 0.00001
NM_001005361.3(DNM2):c.1440C>T (p.Asp480=) rs374655671 0.00001
NM_001005361.3(DNM2):c.1482C>T (p.Ile494=) rs377458236 0.00001
NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met) rs759366882 0.00001
NM_001005361.3(DNM2):c.1512G>A (p.Thr504=) rs767407905 0.00001
NM_001005361.3(DNM2):c.1530A>G (p.Arg510=) rs755640122 0.00001
NM_001005361.3(DNM2):c.1541A>G (p.Asn514Ser) rs141132980 0.00001
NM_001005361.3(DNM2):c.1545+9C>A rs1457554222 0.00001
NM_001005361.3(DNM2):c.1554C>T (p.Ile518=) rs1392112344 0.00001
NM_001005361.3(DNM2):c.1558-5C>A rs777800520 0.00001
NM_001005361.3(DNM2):c.1558-9T>G rs748026953 0.00001
NM_001005361.3(DNM2):c.1578G>T (p.Leu526=) rs774068020 0.00001
NM_001005361.3(DNM2):c.1586A>G (p.Asn529Ser) rs1406718069 0.00001
NM_001005361.3(DNM2):c.1608C>T (p.Gly536=) rs774973372 0.00001
NM_001005361.3(DNM2):c.162-6del rs766449694 0.00001
NM_001005361.3(DNM2):c.1676A>G (p.Lys559Arg) rs886043756 0.00001
NM_001005361.3(DNM2):c.1716C>A (p.Ile572=) rs776999450 0.00001
NM_001005361.3(DNM2):c.1752C>T (p.His584=) rs552850014 0.00001
NM_001005361.3(DNM2):c.1758C>T (p.Phe586=) rs766274376 0.00001
NM_001005361.3(DNM2):c.1772C>T (p.Thr591Met) rs372876881 0.00001
NM_001005361.3(DNM2):c.1773G>A (p.Thr591=) rs201604679 0.00001
NM_001005361.3(DNM2):c.1781+16G>T rs752355749 0.00001
NM_001005361.3(DNM2):c.1781+7G>A rs780683090 0.00001
NM_001005361.3(DNM2):c.1782-6C>T rs963604980 0.00001
NM_001005361.3(DNM2):c.1785C>T (p.Asn595=) rs755603323 0.00001
NM_001005361.3(DNM2):c.1809C>T (p.Ile603=) rs780409124 0.00001
NM_001005361.3(DNM2):c.183A>G (p.Ser61=) rs149555942 0.00001
NM_001005361.3(DNM2):c.1851G>A (p.Lys617=) rs2073060033 0.00001
NM_001005361.3(DNM2):c.1857G>A (p.Ser619=) rs377009386 0.00001
NM_001005361.3(DNM2):c.1872C>T (p.Gly624=) rs774256221 0.00001
NM_001005361.3(DNM2):c.1893+11G>A rs763530224 0.00001
NM_001005361.3(DNM2):c.1893+14C>A rs2073062600 0.00001
NM_001005361.3(DNM2):c.1894-8G>A rs558330407 0.00001
NM_001005361.3(DNM2):c.1894-9C>T rs377410182 0.00001
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly) rs749994173 0.00001
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=) rs746025991 0.00001
NM_001005361.3(DNM2):c.1973A>G (p.Asn658Ser) rs753175954 0.00001
NM_001005361.3(DNM2):c.1989C>T (p.Tyr663=) rs754264521 0.00001
NM_001005361.3(DNM2):c.1993G>A (p.Ala665Thr) rs1262634479 0.00001
NM_001005361.3(DNM2):c.2017G>A (p.Asp673Asn) rs1423993325 0.00001
NM_001005361.3(DNM2):c.2035A>G (p.Ile679Val) rs1381561772 0.00001
NM_001005361.3(DNM2):c.2097A>G (p.Leu699=) rs572608190 0.00001
NM_001005361.3(DNM2):c.2105C>T (p.Ser702Leu) rs745382488 0.00001
NM_001005361.3(DNM2):c.2135C>T (p.Ser712Leu) rs763393555 0.00001
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp) rs763927287 0.00001
NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln) rs753677038 0.00001
NM_001005361.3(DNM2):c.2158G>A (p.Asp720Asn) rs1253996634 0.00001
NM_001005361.3(DNM2):c.216G>A (p.Gln72=) rs368075301 0.00001
NM_001005361.3(DNM2):c.2173A>G (p.Met725Val) rs757876109 0.00001
NM_001005361.3(DNM2):c.2196G>A (p.Ala732=) rs778166280 0.00001
NM_001005361.3(DNM2):c.219C>A (p.Leu73=) rs372012614 0.00001
NM_001005361.3(DNM2):c.2201A>G (p.Asn734Ser) rs577767034 0.00001
NM_001005361.3(DNM2):c.2208C>T (p.Ile736=) rs755163979 0.00001
NM_001005361.3(DNM2):c.2209G>A (p.Gly737Ser) rs774897265 0.00001
NM_001005361.3(DNM2):c.2223C>T (p.Thr741=) rs1417413636 0.00001
NM_001005361.3(DNM2):c.2256C>T (p.Val752=) rs751020224 0.00001
NM_001005361.3(DNM2):c.2264C>T (p.Thr755Ile) rs754691182 0.00001
NM_001005361.3(DNM2):c.2269C>T (p.Leu757Phe) rs375820696 0.00001
NM_001005361.3(DNM2):c.2271C>T (p.Leu757=) rs749699725 0.00001
NM_001005361.3(DNM2):c.2292C>T (p.Ser764=) rs779394836 0.00001
NM_001005361.3(DNM2):c.2326C>T (p.His776Tyr) rs762624510 0.00001
NM_001005361.3(DNM2):c.2330C>T (p.Pro777Leu) rs1282571887 0.00001
NM_001005361.3(DNM2):c.2363C>T (p.Thr788Ile) rs763624831 0.00001
NM_001005361.3(DNM2):c.2370G>C (p.Gly790=) rs750852426 0.00001
NM_001005361.3(DNM2):c.2371C>T (p.Pro791Ser) rs758644162 0.00001
NM_001005361.3(DNM2):c.2374C>A (p.Pro792Thr) rs1443504332 0.00001
NM_001005361.3(DNM2):c.2391C>T (p.Pro797=) rs777834732 0.00001
NM_001005361.3(DNM2):c.2411T>C (p.Phe804Ser) rs1237677745 0.00001
NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu) rs779081943 0.00001
NM_001005361.3(DNM2):c.2417C>T (p.Ala806Val) rs138527500 0.00001
NM_001005361.3(DNM2):c.2430A>G (p.Pro810=) rs1234478593 0.00001
NM_001005361.3(DNM2):c.2434C>T (p.Arg812Trp) rs2073292486 0.00001
NM_001005361.3(DNM2):c.243C>T (p.Ala81=) rs755366581 0.00001
NM_001005361.3(DNM2):c.2497T>C (p.Ser833Pro) rs1253864930 0.00001
NM_001005361.3(DNM2):c.2544-17C>G rs945329439 0.00001
NM_001005361.3(DNM2):c.2544-19G>A rs769617279 0.00001
NM_001005361.3(DNM2):c.2560G>T (p.Ala854Ser) rs886054141 0.00001
NM_001005361.3(DNM2):c.2562G>A (p.Ala854=) rs761141093 0.00001
NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys) rs774180125 0.00001
NM_001005361.3(DNM2):c.2593G>A (p.Glu865Lys) rs746818628 0.00001
NM_001005361.3(DNM2):c.266A>G (p.Lys89Arg) rs1340636700 0.00001
NM_001005361.3(DNM2):c.267A>G (p.Lys89=) rs748666756 0.00001
NM_001005361.3(DNM2):c.292C>T (p.Arg98Trp) rs200408053 0.00001
NM_001005361.3(DNM2):c.320G>A (p.Arg107Lys) rs761564812 0.00001
NM_001005361.3(DNM2):c.335A>G (p.Asn112Ser) rs1220312465 0.00001
NM_001005361.3(DNM2):c.360C>T (p.Ile120=) rs1057329372 0.00001
NM_001005361.3(DNM2):c.385+13G>C rs377633348 0.00001
NM_001005361.3(DNM2):c.402C>T (p.Leu134=) rs748069348 0.00001
NM_001005361.3(DNM2):c.439G>A (p.Asp147Asn) rs370086632 0.00001
NM_001005361.3(DNM2):c.456C>T (p.Ile152=) rs763409114 0.00001
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp) rs1366377441 0.00001
NM_001005361.3(DNM2):c.579C>T (p.Val193=) rs201924777 0.00001
NM_001005361.3(DNM2):c.592C>T (p.Leu198=) rs770036756 0.00001
NM_001005361.3(DNM2):c.636G>T (p.Glu212Asp) rs542515194 0.00001
NM_001005361.3(DNM2):c.654C>T (p.Asp218=) rs763948283 0.00001
NM_001005361.3(DNM2):c.681G>A (p.Leu227=) rs770225926 0.00001
NM_001005361.3(DNM2):c.688+7C>T rs1031505173 0.00001
NM_001005361.3(DNM2):c.688G>C (p.Gly230Arg) rs1245632083 0.00001
NM_001005361.3(DNM2):c.689-3C>T rs373330742 0.00001
NM_001005361.3(DNM2):c.699C>T (p.Gly233=) rs751844947 0.00001
NM_001005361.3(DNM2):c.747T>C (p.Arg249=) rs144331982 0.00001
NM_001005361.3(DNM2):c.800A>G (p.His267Arg) rs1412618988 0.00001
NM_001005361.3(DNM2):c.807C>T (p.Ala269=) rs752361306 0.00001
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn) rs1217925152 0.00001
NM_001005361.3(DNM2):c.811C>T (p.Arg271Cys) rs138128705 0.00001
NM_001005361.3(DNM2):c.819C>T (p.Gly273=) rs1464745378 0.00001
NM_001005361.3(DNM2):c.821C>T (p.Thr274Met) rs746387165 0.00001
NM_001005361.3(DNM2):c.858C>G (p.Thr286=) rs542637338 0.00001
NM_001005361.3(DNM2):c.881C>T (p.Pro294Leu) rs774185418 0.00001
NM_001005361.3(DNM2):c.900A>G (p.Leu300=) rs1599552753 0.00001
NM_001005361.3(DNM2):c.915G>A (p.Leu305=) rs773624569 0.00001
NM_001005361.3(DNM2):c.934G>A (p.Glu312Lys) rs370636702 0.00001
NM_001005361.3(DNM2):c.944A>G (p.Lys315Arg) rs148105340 0.00001
NM_001005361.3(DNM2):c.952C>T (p.Arg318Trp) rs778020908 0.00001
NM_001005361.3(DNM2):c.960C>T (p.Asp320=) rs774137901 0.00001
NM_001005361.3(DNM2):c.992+8C>T rs776457890 0.00001
NM_001005361.3(DNM2):c.993-5C>T rs1465269872 0.00001
NC_000019.10:g.(?_10718233)_(10759821_?)dup
NC_000019.10:g.(?_10718233)_(10786716_?)dup
NC_000019.10:g.(?_10819960)_(10823919_?)dup
NC_000019.10:g.(?_10819970)_(10823909_?)dup
NC_000019.10:g.(?_10819970)_(10831057_?)dup
NC_000019.9:g.(?_10828909)_(10829089_?)dup
NC_000019.9:g.(?_10828919)_(10829099_?)del
NC_000019.9:g.(?_10828919)_(10829099_?)dup
NC_000019.9:g.(?_10870394)_(10870507_?)del
NC_000019.9:g.(?_10870394)_(10870507_?)dup
NC_000019.9:g.(?_10939692)_(10941723_?)dup
NC_000019.9:g.(?_10940783)_(10941723_?)dup
NM_001005361.3(DNM2):c.*166G>A rs886054145
NM_001005361.3(DNM2):c.*22C>T rs531170486
NM_001005361.3(DNM2):c.*35C>G rs199700849
NM_001005361.3(DNM2):c.*379C>T rs953057550
NM_001005361.3(DNM2):c.*386G>C rs74952080
NM_001005361.3(DNM2):c.*550G>A rs886054148
NM_001005361.3(DNM2):c.*711T>C rs886054149
NM_001005361.3(DNM2):c.*716C>T rs2073353055
NM_001005361.3(DNM2):c.*751T>A rs2073354083
NM_001005361.3(DNM2):c.1010G>T (p.Gly337Val) rs767838513
NM_001005361.3(DNM2):c.1012G>A (p.Val338Met) rs753224039
NM_001005361.3(DNM2):c.1016A>G (p.Asp339Gly) rs1568304280
NM_001005361.3(DNM2):c.1021G>A (p.Glu341Lys) rs864309705
NM_001005361.3(DNM2):c.1033G>A (p.Glu345Lys)
NM_001005361.3(DNM2):c.1040C>T (p.Ser347Leu) rs2071834284
NM_001005361.3(DNM2):c.1043G>A (p.Gly348Glu)
NM_001005361.3(DNM2):c.1048C>G (p.Gln350Glu) rs2071834543
NM_001005361.3(DNM2):c.1051G>A (p.Val351Met) rs876661176
NM_001005361.3(DNM2):c.1058C>A (p.Thr353Asn)
NM_001005361.3(DNM2):c.1060C>G (p.Leu354Val)
NM_001005361.3(DNM2):c.1070C>T (p.Ser357Phe) rs1064793101
NM_001005361.3(DNM2):c.1072G>A (p.Gly358Arg) rs267606772
NM_001005361.3(DNM2):c.1074G>T (p.Gly358=) rs750577663
NM_001005361.3(DNM2):c.1078G>A (p.Ala360Thr)
NM_001005361.3(DNM2):c.1086C>T (p.Ile362=) rs2146014183
NM_001005361.3(DNM2):c.1088A>G (p.Asn363Ser) rs2146014211
NM_001005361.3(DNM2):c.1090C>G (p.Arg364Gly) rs1568304333
NM_001005361.3(DNM2):c.1091G>A (p.Arg364His) rs2071835414
NM_001005361.3(DNM2):c.1091G>T (p.Arg364Leu)
NM_001005361.3(DNM2):c.1092C>T (p.Arg364=) rs2146014258
NM_001005361.3(DNM2):c.1093A>G (p.Ile365Val)
NM_001005361.3(DNM2):c.1095C>T (p.Ile365=)
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys) rs121909092
NM_001005361.3(DNM2):c.1102G>C (p.Glu368Gln)
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln) rs121909089
NM_001005361.3(DNM2):c.1115T>C (p.Phe372Ser) rs2146014404
NM_001005361.3(DNM2):c.1116T>A (p.Phe372Leu)
NM_001005361.3(DNM2):c.1124T>C (p.Val375Ala) rs587783594
NM_001005361.3(DNM2):c.1124T>G (p.Val375Gly)
NM_001005361.3(DNM2):c.1128+10C>A rs1010041153
NM_001005361.3(DNM2):c.1128+10C>T
NM_001005361.3(DNM2):c.1128+11_1128+12del
NM_001005361.3(DNM2):c.1128+12C>G
NM_001005361.3(DNM2):c.1128+12dup
NM_001005361.3(DNM2):c.1128+13_1128+14insA
NM_001005361.3(DNM2):c.1128+15G>T rs2146014756
NM_001005361.3(DNM2):c.1128+16G>T
NM_001005361.3(DNM2):c.1128+6G>C
NM_001005361.3(DNM2):c.1128+7C>G rs772959277
NM_001005361.3(DNM2):c.1131G>A (p.Met377Ile) rs2146022673
NM_001005361.3(DNM2):c.1134G>C (p.Glu378Asp) rs1223342362
NM_001005361.3(DNM2):c.1135T>G (p.Phe379Val) rs397514735
NM_001005361.3(DNM2):c.1140C>T (p.Asp380=)
NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys) rs2071896749
NM_001005361.3(DNM2):c.1146G>A (p.Lys382=)
NM_001005361.3(DNM2):c.1147G>T (p.Asp383Tyr) rs1568305190
NM_001005361.3(DNM2):c.1156C>T (p.Arg386Trp)
NM_001005361.3(DNM2):c.1161G>T (p.Glu387Asp) rs2071897159
NM_001005361.3(DNM2):c.1167C>T (p.Ser389=) rs2146022764
NM_001005361.3(DNM2):c.1170T>C (p.Tyr390=) rs765373844
NM_001005361.3(DNM2):c.1178A>C (p.Lys393Thr) rs2071897365
NM_001005361.3(DNM2):c.1187A>G (p.His396Arg)
NM_001005361.3(DNM2):c.1188T>C (p.His396=) rs1039592560
NM_001005361.3(DNM2):c.1191A>C (p.Gly397=)
NM_001005361.3(DNM2):c.1196+13A>G
NM_001005361.3(DNM2):c.1196+4A>G
NM_001005361.3(DNM2):c.1196+606G>C
NM_001005361.3(DNM2):c.1196+613C>G
NM_001005361.3(DNM2):c.1196+615G>A
NM_001005361.3(DNM2):c.1196+619C>T rs748695148
NM_001005361.3(DNM2):c.1196+628G>T rs374376619
NM_001005361.3(DNM2):c.1196+634C>T rs2146025884
NM_001005361.3(DNM2):c.1196+643C>T rs563985581
NM_001005361.3(DNM2):c.1196+646G>A
NM_001005361.3(DNM2):c.1196+655G>A
NM_001005361.3(DNM2):c.1196+658C>T rs1599569966
NM_001005361.3(DNM2):c.1196+660T>C rs2146025971
NM_001005361.3(DNM2):c.1196+661T>C
NM_001005361.3(DNM2):c.1196+666A>G
NM_001005361.3(DNM2):c.1196+670G>A
NM_001005361.3(DNM2):c.1196+670G>C
NM_001005361.3(DNM2):c.1196+676C>G
NM_001005361.3(DNM2):c.1196+676C>T
NM_001005361.3(DNM2):c.1196+680A>G rs2071923540
NM_001005361.3(DNM2):c.1196+681A>C rs931176769
NM_001005361.3(DNM2):c.1196+681A>G rs931176769
NM_001005361.3(DNM2):c.1196+686A>G
NM_001005361.3(DNM2):c.1196+698C>T
NM_001005361.3(DNM2):c.1196+700G>A
NM_001005361.3(DNM2):c.1196+701A>T
NM_001005361.3(DNM2):c.1196+704T>C rs1409309807
NM_001005361.3(DNM2):c.1196+707G>C rs2071924630
NM_001005361.3(DNM2):c.1196+708T>C
NM_001005361.3(DNM2):c.1196+715G>A rs1338938129
NM_001005361.3(DNM2):c.1196+719A>G
NM_001005361.3(DNM2):c.1196+723A>G
NM_001005361.3(DNM2):c.1196+729T>G rs1555710681
NM_001005361.3(DNM2):c.1196+730A>G rs1599570127
NM_001005361.3(DNM2):c.1196+740G>T rs2146026442
NM_001005361.3(DNM2):c.1196+745G>T
NM_001005361.3(DNM2):c.1196+751T>C
NM_001005361.3(DNM2):c.1196+754C>T
NM_001005361.3(DNM2):c.1196+761G>A rs1431565635
NM_001005361.3(DNM2):c.1196+770C>T
NM_001005361.3(DNM2):c.1196+774G>A
NM_001005361.3(DNM2):c.1196+775G>A
NM_001005361.3(DNM2):c.1196+775G>T
NM_001005361.3(DNM2):c.1196+7del rs768397600
NM_001005361.3(DNM2):c.1336-10G>T rs2146038714
NM_001005361.3(DNM2):c.1336-19A>G
NM_001005361.3(DNM2):c.1336-3C>A rs2146038756
NM_001005361.3(DNM2):c.1336-3C>T
NM_001005361.3(DNM2):c.1336-5C>G
NM_001005361.3(DNM2):c.1336-5C>T
NM_001005361.3(DNM2):c.1343C>A (p.Ser448Tyr) rs2072020474
NM_001005361.3(DNM2):c.1344C>T (p.Ser448=)
NM_001005361.3(DNM2):c.1350C>T (p.Pro450=)
NM_001005361.3(DNM2):c.1351del (p.Arg451fs)
NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu) rs749154067
NM_001005361.3(DNM2):c.1354T>C (p.Leu452=) rs770599060
NM_001005361.3(DNM2):c.1354T>G (p.Leu452Val) rs770599060
NM_001005361.3(DNM2):c.1356G>A (p.Leu452=) rs2072021007
NM_001005361.3(DNM2):c.1356G>T (p.Leu452Phe)
NM_001005361.3(DNM2):c.1365G>A (p.Glu455=) rs2146038840
NM_001005361.3(DNM2):c.1370A>G (p.Glu457Gly) rs1555711301
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=) rs745748213
NM_001005361.3(DNM2):c.1385C>T (p.Thr462Ile)
NM_001005361.3(DNM2):c.1388A>G (p.Tyr463Cys)
NM_001005361.3(DNM2):c.1389C>T (p.Tyr463=)
NM_001005361.3(DNM2):c.1392C>A (p.Ile464=) rs2146038976
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001005361.3(DNM2):c.1400G>T (p.Arg467Leu)
NM_001005361.3(DNM2):c.1401G>A (p.Arg467=)
NM_001005361.3(DNM2):c.1422+17T>C rs371841391
NM_001005361.3(DNM2):c.1422+6G>A rs2146039132
NM_001005361.3(DNM2):c.1422+8_1422+14del rs2146039160
NM_001005361.3(DNM2):c.1423-1G>T rs2072180672
NM_001005361.3(DNM2):c.1423-8T>C rs1599583116
NM_001005361.3(DNM2):c.1425T>C (p.Ile475=)
NM_001005361.3(DNM2):c.1426C>A (p.Leu476Ile) rs1568309121
NM_001005361.3(DNM2):c.1434G>A (p.Leu478=)
NM_001005361.3(DNM2):c.1438G>A (p.Asp480Asn) rs764027808
NM_001005361.3(DNM2):c.1438G>C (p.Asp480His)
NM_001005361.3(DNM2):c.1442T>C (p.Ile481Thr)
NM_001005361.3(DNM2):c.1451C>G (p.Ser484Cys) rs2146061357
NM_001005361.3(DNM2):c.1455C>T (p.Tyr485=)
NM_001005361.3(DNM2):c.1463C>G (p.Thr488Arg) rs746903992
NM_001005361.3(DNM2):c.1463C>T (p.Thr488Met) rs746903992
NM_001005361.3(DNM2):c.1464G>A (p.Thr488=)
NM_001005361.3(DNM2):c.1464G>C (p.Thr488=)
NM_001005361.3(DNM2):c.1480A>G (p.Ile494Val) rs2146061452
NM_001005361.3(DNM2):c.1482C>A (p.Ile494=) rs377458236
NM_001005361.3(DNM2):c.1483G>A (p.Gly495Arg)
NM_001005361.3(DNM2):c.1485G>T (p.Gly495=)
NM_001005361.3(DNM2):c.1493+14G>A
NM_001005361.3(DNM2):c.1493+18C>T
NM_001005361.3(DNM2):c.1493+5G>A rs2072182574
NM_001005361.3(DNM2):c.1493+7A>G
NM_001005361.3(DNM2):c.1493A>C (p.Asn498Thr)
NM_001005361.3(DNM2):c.1493A>G (p.Asn498Ser) rs886054140
NM_001005361.3(DNM2):c.1494-14T>C
NM_001005361.3(DNM2):c.1494-15G>T
NM_001005361.3(DNM2):c.1494-16_1494-13del
NM_001005361.3(DNM2):c.1494-20T>C
NM_001005361.3(DNM2):c.1494-6T>C rs2146080287
NM_001005361.3(DNM2):c.1506G>A (p.Arg502=)
NM_001005361.3(DNM2):c.1512G>C (p.Thr504=)
NM_001005361.3(DNM2):c.1514del (p.Gln505fs) rs2146080349
NM_001005361.3(DNM2):c.1521C>A (p.Asn507Lys)
NM_001005361.3(DNM2):c.1523A>G (p.Lys508Arg)
NM_001005361.3(DNM2):c.1523AGA[1] (p.Lys509del) rs752875857
NM_001005361.3(DNM2):c.1524G>C (p.Lys508Asn)
NM_001005361.3(DNM2):c.1526A>G (p.Lys509Arg) rs1555712608
NM_001005361.3(DNM2):c.1531G>A (p.Ala511Thr)
NM_001005361.3(DNM2):c.1533C>T (p.Ala511=)
NM_001005361.3(DNM2):c.1536C>T (p.Ile512=)
NM_001005361.3(DNM2):c.1537C>T (p.Pro513Ser)
NM_001005361.3(DNM2):c.1542T>C (p.Asn514=)
NM_001005361.3(DNM2):c.1545+11C>T rs1555712626
NM_001005361.3(DNM2):c.1545+14C>T rs114713494
NM_001005361.3(DNM2):c.1545+17C>A
NM_001005361.3(DNM2):c.1545+17C>T
NM_001005361.3(DNM2):c.1545+18del rs2146080581
NM_001005361.3(DNM2):c.1545+7C>A
NM_001005361.3(DNM2):c.1546-18A>C rs1426762153
NM_001005361.3(DNM2):c.1548G>A (p.Gly516=)
NM_001005361.3(DNM2):c.1552A>G (p.Ile518Val) rs753402698
NM_001005361.3(DNM2):c.1555C>T (p.Leu519=)
NM_001005361.3(DNM2):c.1557+10_1557+15dup rs2146093632
NM_001005361.3(DNM2):c.1557+20G>A
NM_001005361.3(DNM2):c.1557+9A>T rs778469445
NM_001005361.3(DNM2):c.1558-11C>A
NM_001005361.3(DNM2):c.1558-12G>A
NM_001005361.3(DNM2):c.1558-14G>A
NM_001005361.3(DNM2):c.1558-16G>A
NM_001005361.3(DNM2):c.1558-16G>T
NM_001005361.3(DNM2):c.1558-5C>T
NM_001005361.3(DNM2):c.1558G>C (p.Val520Leu) rs2072577212
NM_001005361.3(DNM2):c.1564C>T (p.Arg522Cys) rs2072577342
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His) rs587783595
NM_001005361.3(DNM2):c.1567A>G (p.Arg523Gly) rs587783596
NM_001005361.3(DNM2):c.1570G>C (p.Gly524Arg)
NM_001005361.3(DNM2):c.1573T>G (p.Trp525Gly)
NM_001005361.3(DNM2):c.1584C>T (p.Ile528=) rs935512495
NM_001005361.3(DNM2):c.1586ACA[1] (p.Asn530del) rs1342132509
NM_001005361.3(DNM2):c.1592T>C (p.Ile531Thr)
NM_001005361.3(DNM2):c.1594A>G (p.Ser532Gly) rs368752035
NM_001005361.3(DNM2):c.1601T>G (p.Met534Arg)
NM_001005361.3(DNM2):c.1606G>A (p.Gly536Ser) rs2072578382
NM_001005361.3(DNM2):c.1609G>A (p.Gly537Ser) rs121909093
NM_001005361.3(DNM2):c.1609G>T (p.Gly537Cys) rs121909093
NM_001005361.3(DNM2):c.1616A>T (p.Lys539Met) rs1568314284
NM_001005361.3(DNM2):c.1618G>A (p.Glu540Lys)
NM_001005361.3(DNM2):c.162-13C>T
NM_001005361.3(DNM2):c.162-15C>T
NM_001005361.3(DNM2):c.162-7C>A rs148318860
NM_001005361.3(DNM2):c.162-7C>G rs148318860
NM_001005361.3(DNM2):c.162-7C>T rs148318860
NM_001005361.3(DNM2):c.162-7dup
NM_001005361.3(DNM2):c.162-8C>A rs747484495
NM_001005361.3(DNM2):c.162-8C>G rs747484495
NM_001005361.3(DNM2):c.162-8C>T rs747484495
NM_001005361.3(DNM2):c.162-9C>G rs200736669
NM_001005361.3(DNM2):c.162-9C>T
NM_001005361.3(DNM2):c.162G>A (p.Arg54=)
NM_001005361.3(DNM2):c.162G>C (p.Arg54=) rs762111033
NM_001005361.3(DNM2):c.1641C>T (p.Ala547=) rs538253489
NM_001005361.3(DNM2):c.1663G>A (p.Asp555Asn)
NM_001005361.3(DNM2):c.1664_1671+1del rs1568314339
NM_001005361.3(DNM2):c.1671+16G>T
NM_001005361.3(DNM2):c.1671+18G>T rs2146112377
NM_001005361.3(DNM2):c.1671+3G>A
NM_001005361.3(DNM2):c.1671+3G>C rs942932745
NM_001005361.3(DNM2):c.1672-13C>T
NM_001005361.3(DNM2):c.1672-16T>C
NM_001005361.3(DNM2):c.1672-16_1672-15del
NM_001005361.3(DNM2):c.1672-19_1672-16del rs771706714
NM_001005361.3(DNM2):c.1675_1677del (p.Lys559del) rs1599620398
NM_001005361.3(DNM2):c.1678G>A (p.Glu560Lys) rs879254086
NM_001005361.3(DNM2):c.1681AAG[1] (p.Lys562del) rs1599620408
NM_001005361.3(DNM2):c.1684A>G (p.Lys562Glu) rs121909088
NM_001005361.3(DNM2):c.1686G>A (p.Lys562=)
NM_001005361.3(DNM2):c.168C>T (p.Phe56=)
NM_001005361.3(DNM2):c.1696C>A (p.Pro566Thr)
NM_001005361.3(DNM2):c.1697C>T (p.Pro566Leu)
NM_001005361.3(DNM2):c.1699C>T (p.Leu567=) rs1477679266
NM_001005361.3(DNM2):c.1705A>C (p.Asn569His)
NM_001005361.3(DNM2):c.1708C>T (p.Leu570Phe) rs2072921679
NM_001005361.3(DNM2):c.1709T>A (p.Leu570His) rs121909094
NM_001005361.3(DNM2):c.170_192del (p.Leu57fs) rs2145855560
NM_001005361.3(DNM2):c.1712A>G (p.Lys571Arg)
NM_001005361.3(DNM2):c.1713G>T (p.Lys571Asn)
NM_001005361.3(DNM2):c.1717C>T (p.Arg573Cys)
NM_001005361.3(DNM2):c.1718G>A (p.Arg573His) rs1555715216
NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala) rs1300578677
NM_001005361.3(DNM2):c.1723G>A (p.Val575Met)
NM_001005361.3(DNM2):c.1725G>A (p.Val575=) rs1322970848
NM_001005361.3(DNM2):c.1726G>A (p.Glu576Lys)
NM_001005361.3(DNM2):c.1731G>C (p.Lys577Asn) rs35365412
NM_001005361.3(DNM2):c.1732G>A (p.Gly578Ser)
NM_001005361.3(DNM2):c.1734C>T (p.Gly578=)
NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup) rs2072922521
NM_001005361.3(DNM2):c.1739T>C (p.Met580Thr) rs1269225724
NM_001005361.3(DNM2):c.1747A>G (p.Lys583Glu) rs1568318798
NM_001005361.3(DNM2):c.174C>T (p.Pro58=) rs773480707
NM_001005361.3(DNM2):c.1753G>A (p.Val585Ile) rs762777422
NM_001005361.3(DNM2):c.1757T>G (p.Phe586Cys)
NM_001005361.3(DNM2):c.175C>T (p.Arg59Cys)
NM_001005361.3(DNM2):c.177C>T (p.Arg59=) rs762795230
NM_001005361.3(DNM2):c.1781+10C>G
NM_001005361.3(DNM2):c.1781+12del
NM_001005361.3(DNM2):c.1781+13G>A rs1316933028
NM_001005361.3(DNM2):c.1781+14G>A
NM_001005361.3(DNM2):c.1781+19T>C
NM_001005361.3(DNM2):c.1781+6G>C
NM_001005361.3(DNM2):c.1781+6G>T rs1568318838
NM_001005361.3(DNM2):c.1782-10C>A
NM_001005361.3(DNM2):c.1782-11C>A
NM_001005361.3(DNM2):c.1782-16C>T
NM_001005361.3(DNM2):c.1782-4G>C rs767424969
NM_001005361.3(DNM2):c.1782-5C>G
NM_001005361.3(DNM2):c.1782-5del rs760441017
NM_001005361.3(DNM2):c.1782-5dup rs760441017
NM_001005361.3(DNM2):c.1782-7C>A rs200843089
NM_001005361.3(DNM2):c.1782-7C>G rs200843089
NM_001005361.3(DNM2):c.1782-7C>T rs200843089
NM_001005361.3(DNM2):c.1796A>G (p.Asp599Gly)
NM_001005361.3(DNM2):c.1798C>T (p.Leu600=)
NM_001005361.3(DNM2):c.1799T>C (p.Leu600Pro)
NM_001005361.3(DNM2):c.1801C>T (p.Arg601Trp)
NM_001005361.3(DNM2):c.1806G>C (p.Gln602His) rs2073058875
NM_001005361.3(DNM2):c.1809C>G (p.Ile603Met) rs780409124
NM_001005361.3(DNM2):c.1810G>A (p.Glu604Lys) rs951875086
NM_001005361.3(DNM2):c.1816G>T (p.Ala606Ser) rs2146181196
NM_001005361.3(DNM2):c.1840G>A (p.Asp614Asn)
NM_001005361.3(DNM2):c.1847G>A (p.Trp616Ter)
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr) rs773598203
NM_001005361.3(DNM2):c.1852G>T (p.Ala618Ser) rs773598203
NM_001005361.3(DNM2):c.1853C>A (p.Ala618Asp) rs1555715869
NM_001005361.3(DNM2):c.1856C>G (p.Ser619Trp) rs121909095
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu) rs121909095
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro) rs587783597
NM_001005361.3(DNM2):c.1871G>T (p.Gly624Val)
NM_001005361.3(DNM2):c.1873_1875del (p.Val625del)
NM_001005361.3(DNM2):c.1879C>T (p.Pro627Ser)
NM_001005361.3(DNM2):c.187A>G (p.Ile63Val)
NM_001005361.3(DNM2):c.1880C>A (p.Pro627His)
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg) rs587783598
NM_001005361.3(DNM2):c.1881C>T (p.Pro627=) rs767496363
NM_001005361.3(DNM2):c.1882G>A (p.Glu628Lys) rs775361247
NM_001005361.3(DNM2):c.1885A>G (p.Lys629Glu)
NM_001005361.3(DNM2):c.1885_1893+8del
NM_001005361.3(DNM2):c.1893+10C>A
NM_001005361.3(DNM2):c.1893+1G>A rs2073061878
NM_001005361.3(DNM2):c.1893+9C>T
NM_001005361.3(DNM2):c.1894-11C>A
NM_001005361.3(DNM2):c.1894-12T>G rs2073097418
NM_001005361.3(DNM2):c.1894-13C>T
NM_001005361.3(DNM2):c.1894-13_1894-12insA
NM_001005361.3(DNM2):c.1903G>A (p.Glu635Lys) rs761198315
NM_001005361.3(DNM2):c.1905G>A (p.Glu635=)
NM_001005361.3(DNM2):c.1906G>A (p.Asp636Asn)
NM_001005361.3(DNM2):c.1906G>C (p.Asp636His)
NM_001005361.3(DNM2):c.1923C>T (p.Asn641=)
NM_001005361.3(DNM2):c.1924A>T (p.Thr642Ser)
NM_001005361.3(DNM2):c.1933A>G (p.Met645Val)
NM_001005361.3(DNM2):c.1938C>A (p.Asp646Glu)
NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys) rs2073098775
NM_001005361.3(DNM2):c.1952G>A (p.Arg651Gln) rs1568321851
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe) rs776410455
NM_001005361.3(DNM2):c.1967T>C (p.Ile656Thr)
NM_001005361.3(DNM2):c.196C>T (p.Arg66Trp)
NM_001005361.3(DNM2):c.1970G>A (p.Arg657His) rs2146188021
NM_001005361.3(DNM2):c.1971C>T (p.Arg657=) rs559056873
NM_001005361.3(DNM2):c.1977G>A (p.Leu659=)
NM_001005361.3(DNM2):c.1977G>T (p.Leu659=)
NM_001005361.3(DNM2):c.197G>A (p.Arg66Gln) rs1568283807
NM_001005361.3(DNM2):c.1992G>C (p.Val664=)
NM_001005361.3(DNM2):c.1995C>T (p.Ala665=) rs2073100795
NM_001005361.3(DNM2):c.1998C>G (p.Ile666Met) rs2073100886
NM_001005361.3(DNM2):c.200G>A (p.Arg67Gln) rs752080566
NM_001005361.3(DNM2):c.2011A>G (p.Ile671Val) rs1568321953
NM_001005361.3(DNM2):c.2014C>T (p.Arg672Cys)
NM_001005361.3(DNM2):c.2023A>G (p.Met675Val) rs1555716140
NM_001005361.3(DNM2):c.2034C>G (p.Thr678=)
NM_001005361.3(DNM2):c.2041C>A (p.His681Asn) rs1437296623
NM_001005361.3(DNM2):c.2047A>G (p.Met683Val)
NM_001005361.3(DNM2):c.2057A>G (p.Asn686Ser) rs2073102227
NM_001005361.3(DNM2):c.2058+20T>C
NM_001005361.3(DNM2):c.2058+3G>A rs747966753
NM_001005361.3(DNM2):c.2058T>G (p.Asn686Lys) rs1368089327
NM_001005361.3(DNM2):c.205C>T (p.Leu69Phe) rs2145855703
NM_001005361.3(DNM2):c.2060C>T (p.Thr687Met)
NM_001005361.3(DNM2):c.2061G>T (p.Thr687=) rs149164657
NM_001005361.3(DNM2):c.2064G>A (p.Lys688=) rs930737609
NM_001005361.3(DNM2):c.2079C>T (p.His693=) rs777872270
NM_001005361.3(DNM2):c.208A>G (p.Ile70Val)
NM_001005361.3(DNM2):c.2095C>T (p.Leu699=)
NM_001005361.3(DNM2):c.2100C>T (p.Tyr700=) rs756845145
NM_001005361.3(DNM2):c.2100CTC[1] (p.Ser702del) rs1324559612
NM_001005361.3(DNM2):c.2102C>T (p.Ser701Phe)
NM_001005361.3(DNM2):c.2106G>A (p.Ser702=) rs554971107
NM_001005361.3(DNM2):c.2106G>T (p.Ser702=) rs554971107
NM_001005361.3(DNM2):c.2107G>A (p.Ala703Thr) rs1299975305
NM_001005361.3(DNM2):c.2108C>G (p.Ala703Gly)
NM_001005361.3(DNM2):c.210T>C (p.Ile70=) rs878854149
NM_001005361.3(DNM2):c.2110G>A (p.Asp704Asn)
NM_001005361.3(DNM2):c.2116A>T (p.Ser706Cys) rs2146205490
NM_001005361.3(DNM2):c.2121C>T (p.Ser707=)
NM_001005361.3(DNM2):c.2133G>A (p.Glu711=)
NM_001005361.3(DNM2):c.2136G>A (p.Ser712=) rs1555716924
NM_001005361.3(DNM2):c.2136G>T (p.Ser712=) rs1555716924
NM_001005361.3(DNM2):c.2139T>G (p.Ala713=) rs2229920
NM_001005361.3(DNM2):c.213G>T (p.Leu71=)
NM_001005361.3(DNM2):c.2144A>G (p.Gln715Arg) rs374041367
NM_001005361.3(DNM2):c.2144A>T (p.Gln715Leu)
NM_001005361.3(DNM2):c.2146G>C (p.Ala716Pro)
NM_001005361.3(DNM2):c.2147C>T (p.Ala716Val)
NM_001005361.3(DNM2):c.214C>A (p.Gln72Lys)
NM_001005361.3(DNM2):c.214C>T (p.Gln72Ter)
NM_001005361.3(DNM2):c.2156G>A (p.Arg719Gln)
NM_001005361.3(DNM2):c.2157G>A (p.Arg719=)
NM_001005361.3(DNM2):c.2159del (p.Asp720fs)
NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn) rs1012446714
NM_001005361.3(DNM2):c.2163C>T (p.Asp721=) rs770491381
NM_001005361.3(DNM2):c.2168T>A (p.Leu723Gln)
NM_001005361.3(DNM2):c.2170C>T (p.Arg724Cys)
NM_001005361.3(DNM2):c.2171G>A (p.Arg724His) rs1160341992
NM_001005361.3(DNM2):c.2173A>C (p.Met725Leu)
NM_001005361.3(DNM2):c.2174T>C (p.Met725Thr)
NM_001005361.3(DNM2):c.2178C>T (p.Tyr726=)
NM_001005361.3(DNM2):c.2180A>G (p.His727Arg)
NM_001005361.3(DNM2):c.2185C>G (p.Leu729Val)
NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr) rs1360529572
NM_001005361.3(DNM2):c.2197C>T (p.Leu733Phe) rs1568324227
NM_001005361.3(DNM2):c.2200A>G (p.Asn734Asp)
NM_001005361.3(DNM2):c.2212G>C (p.Asp738His)
NM_001005361.3(DNM2):c.2215A>G (p.Ile739Val) rs2073249809
NM_001005361.3(DNM2):c.2229T>C (p.Thr743=)
NM_001005361.3(DNM2):c.222C>A (p.Ile74=)
NM_001005361.3(DNM2):c.2233T>A (p.Ser745Thr) rs1568324267
NM_001005361.3(DNM2):c.2235C>T (p.Ser745=) rs2146205946
NM_001005361.3(DNM2):c.2238G>A (p.Thr746=)
NM_001005361.3(DNM2):c.2238G>T (p.Thr746=) rs370550750
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser) rs773884005
NM_001005361.3(DNM2):c.2246C>A (p.Pro749His) rs765111629
NM_001005361.3(DNM2):c.2248C>A (p.Pro750Thr) rs1173091380
NM_001005361.3(DNM2):c.2249C>T (p.Pro750Leu) rs375350902
NM_001005361.3(DNM2):c.2250G>A (p.Pro750=) rs1446564477
NM_001005361.3(DNM2):c.2252C>A (p.Pro751His)
NM_001005361.3(DNM2):c.2253T>G (p.Pro751=)
NM_001005361.3(DNM2):c.2257G>T (p.Asp753Tyr) rs368325934
NM_001005361.3(DNM2):c.2259T>C (p.Asp753=)
NM_001005361.3(DNM2):c.2264C>A (p.Thr755Asn) rs754691182
NM_001005361.3(DNM2):c.2274G>T (p.Gln758His) rs2146206095
NM_001005361.3(DNM2):c.2277C>T (p.Ser759=) rs757565933
NM_001005361.3(DNM2):c.2278G>A (p.Ala760Thr) rs779315825
NM_001005361.3(DNM2):c.2286C>A (p.Ser762Arg) rs1568324385
NM_001005361.3(DNM2):c.2291+16T>G rs2146206194
NM_001005361.3(DNM2):c.2291+19C>T
NM_001005361.3(DNM2):c.2291+3C>T
NM_001005361.3(DNM2):c.2292-12C>T
NM_001005361.3(DNM2):c.2292-16C>G rs2073285352
NM_001005361.3(DNM2):c.2292-18C>A
NM_001005361.3(DNM2):c.2292-3C>T
NM_001005361.3(DNM2):c.2292-7C>G rs2073285852
NM_001005361.3(DNM2):c.2292-7C>T rs2073285852
NM_001005361.3(DNM2):c.2292-8C>A rs757620658
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile) rs2073286326
NM_001005361.3(DNM2):c.2306G>A (p.Arg769His)
NM_001005361.3(DNM2):c.2308C>T (p.Arg770Ter) rs1599641077
NM_001005361.3(DNM2):c.2311C>A (p.Pro771Thr) rs1862203120
NM_001005361.3(DNM2):c.2316G>A (p.Val772=)
NM_001005361.3(DNM2):c.231A>C (p.Lys77Asn) rs2145855757
NM_001005361.3(DNM2):c.2323A>C (p.Ile775Leu) rs773124483
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln) rs766387630
NM_001005361.3(DNM2):c.2328C>T (p.His776=) rs766387630
NM_001005361.3(DNM2):c.2332C>A (p.Pro778Thr) rs774220956
NM_001005361.3(DNM2):c.2334T>C (p.Pro778=) rs2146209802
NM_001005361.3(DNM2):c.2335G>A (p.Gly779Ser)
NM_001005361.3(DNM2):c.2338C>T (p.Arg780Trp) rs1221582515
NM_001005361.3(DNM2):c.2340G>T (p.Arg780=)
NM_001005361.3(DNM2):c.2349A>T (p.Ala783=) rs2073288189
NM_001005361.3(DNM2):c.235+10G>A rs769906659
NM_001005361.3(DNM2):c.235+12C>G rs147026993
NM_001005361.3(DNM2):c.235+12C>T rs147026993
NM_001005361.3(DNM2):c.235+13G>A
NM_001005361.3(DNM2):c.235+13G>T
NM_001005361.3(DNM2):c.235+14G>A rs2145855889
NM_001005361.3(DNM2):c.235+3A>G
NM_001005361.3(DNM2):c.235+4A>G
NM_001005361.3(DNM2):c.2352G>A (p.Val784=) rs2146209880
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005361.3(DNM2):c.2357G>T (p.Gly786Val)
NM_001005361.3(DNM2):c.2358C>A (p.Gly786=) rs2073288383
NM_001005361.3(DNM2):c.2358C>T (p.Gly786=)
NM_001005361.3(DNM2):c.2359C>G (p.Pro787Ala) rs752357434
NM_001005361.3(DNM2):c.236-10C>A rs1478094557
NM_001005361.3(DNM2):c.236-18T>C
NM_001005361.3(DNM2):c.236-19A>G
NM_001005361.3(DNM2):c.236-20C>T
NM_001005361.3(DNM2):c.2364T>C (p.Thr788=)
NM_001005361.3(DNM2):c.2365C>G (p.Pro789Ala) rs876661218
NM_001005361.3(DNM2):c.2372C>A (p.Pro791His) rs780738840
NM_001005361.3(DNM2):c.2372C>T (p.Pro791Leu) rs780738840
NM_001005361.3(DNM2):c.2377_2378del (p.Leu793fs)
NM_001005361.3(DNM2):c.2377del (p.Pro792_Leu793insTer) rs764391392
NM_001005361.3(DNM2):c.2378T>C (p.Leu793Pro)
NM_001005361.3(DNM2):c.2378del (p.Leu793fs) rs2073289875
NM_001005361.3(DNM2):c.2383C>G (p.Pro795Ala)
NM_001005361.3(DNM2):c.2389C>A (p.Pro797Thr)
NM_001005361.3(DNM2):c.2390C>T (p.Pro797Leu)
NM_001005361.3(DNM2):c.2395G>A (p.Gly799Arg) rs2073290642
NM_001005361.3(DNM2):c.2397G>T (p.Gly799=)
NM_001005361.3(DNM2):c.2399C>T (p.Ala800Val)
NM_001005361.3(DNM2):c.2406C>T (p.Ala802=) rs2146210111
NM_001005361.3(DNM2):c.2411_2413del (p.Phe804del) rs752014734
NM_001005361.3(DNM2):c.2415G>A (p.Ser805=)
NM_001005361.3(DNM2):c.2420C>T (p.Pro807Leu)
NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe) rs2073292307
NM_001005361.3(DNM2):c.2435G>A (p.Arg812Gln) rs1285468865
NM_001005361.3(DNM2):c.2437C>T (p.Pro813Ser) rs2073292666
NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu) rs1382688319
NM_001005361.3(DNM2):c.243C>G (p.Ala81=)
NM_001005361.3(DNM2):c.2443C>T (p.Pro815Ser) rs1438459794
NM_001005361.3(DNM2):c.2448G>A (p.Gln816=)
NM_001005361.3(DNM2):c.244G>A (p.Glu82Lys)
NM_001005361.3(DNM2):c.2451C>G (p.Ser817Arg) rs751961437
NM_001005361.3(DNM2):c.2451C>T (p.Ser817=) rs751961437
NM_001005361.3(DNM2):c.2458G>A (p.Ala820Thr)
NM_001005361.3(DNM2):c.2462A>G (p.Asn821Ser)
NM_001005361.3(DNM2):c.2465G>A (p.Ser822Asn) rs1301279979
NM_001005361.3(DNM2):c.2466T>C (p.Ser822=)
NM_001005361.3(DNM2):c.246G>A (p.Glu82=)
NM_001005361.3(DNM2):c.2472C>G (p.Leu824=) rs2146210362
NM_001005361.3(DNM2):c.2477C>T (p.Pro826Leu)
NM_001005361.3(DNM2):c.2479G>A (p.Ala827Thr) rs1599641452
NM_001005361.3(DNM2):c.2483C>T (p.Pro828Leu)
NM_001005361.3(DNM2):c.2495C>T (p.Pro832Leu) rs2073294248
NM_001005361.3(DNM2):c.2496A>T (p.Pro832=)
NM_001005361.3(DNM2):c.2499T>C (p.Ser833=)
NM_001005361.3(DNM2):c.2500C>A (p.Arg834=)
NM_001005361.3(DNM2):c.2513T>G (p.Ile838Ser)
NM_001005361.3(DNM2):c.2526T>A (p.Ile842=) rs1173105671
NM_001005361.3(DNM2):c.2526T>C (p.Ile842=)
NM_001005361.3(DNM2):c.2526T>G (p.Ile842Met)
NM_001005361.3(DNM2):c.2527C>T (p.Pro843Ser) rs2146210571
NM_001005361.3(DNM2):c.2531C>T (p.Pro844Leu) rs1398139585
NM_001005361.3(DNM2):c.2534G>T (p.Gly845Val)
NM_001005361.3(DNM2):c.2543+17G>A
NM_001005361.3(DNM2):c.2543+18C>T
NM_001005361.3(DNM2):c.2543+1G>A rs2146210623
NM_001005361.3(DNM2):c.2543+20C>G
NM_001005361.3(DNM2):c.2543+5G>C rs2073295708
NM_001005361.3(DNM2):c.2544-12T>C
NM_001005361.3(DNM2):c.2544-15T>C
NM_001005361.3(DNM2):c.2544-20T>C
NM_001005361.3(DNM2):c.2544-3C>T rs2073330199
NM_001005361.3(DNM2):c.2544-5T>G
NM_001005361.3(DNM2):c.2553C>T (p.Pro851=)
NM_001005361.3(DNM2):c.2555C>G (p.Pro852Arg)
NM_001005361.3(DNM2):c.2555C>T (p.Pro852Leu)
NM_001005361.3(DNM2):c.2561C>T (p.Ala854Val) rs776073354
NM_001005361.3(DNM2):c.2571G>A (p.Arg857=)
NM_001005361.3(DNM2):c.2571_2593del (p.Pro858fs)
NM_001005361.3(DNM2):c.2571_2593dup (p.Glu865fs) rs2146213977
NM_001005361.3(DNM2):c.2572C>T (p.Pro858Ser)
NM_001005361.3(DNM2):c.2573C>A (p.Pro858His) rs2146214048
NM_001005361.3(DNM2):c.2573C>T (p.Pro858Leu) rs2146214048
NM_001005361.3(DNM2):c.2573CCA[1] (p.Thr859del) rs1599643472
NM_001005361.3(DNM2):c.2576_2581del (p.Thr859_Ile860del) rs876661117
NM_001005361.3(DNM2):c.2577C>T (p.Thr859=) rs2146214089
NM_001005361.3(DNM2):c.2581A>T (p.Ile861Phe)
NM_001005361.3(DNM2):c.2583C>A (p.Ile861=) rs1303085497
NM_001005361.3(DNM2):c.2585G>A (p.Arg862His)
NM_001005361.3(DNM2):c.2585G>C (p.Arg862Pro)
NM_001005361.3(DNM2):c.2589A>C (p.Pro863=) rs1555717448
NM_001005361.3(DNM2):c.2592C>A (p.Ala864=) rs373161548
NM_001005361.3(DNM2):c.2593G>C (p.Glu865Gln) rs746818628
NM_001005361.3(DNM2):c.2593_2597del (p.Glu865fs)
NM_001005361.3(DNM2):c.2596C>T (p.Pro866Ser) rs1242764198
NM_001005361.3(DNM2):c.2600C>A (p.Ser867Tyr)
NM_001005361.3(DNM2):c.2602C>T (p.Leu868=)
NM_001005361.3(DNM2):c.2603T>C (p.Leu868Pro)
NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro) rs1703984974
NM_001005361.3(DNM2):c.2607C>A (p.Leu869=) rs144472798
NM_001005361.3(DNM2):c.2607C>G (p.Leu869=) rs144472798
NM_001005361.3(DNM2):c.2607C>T (p.Leu869=) rs144472798
NM_001005361.3(DNM2):c.2608G>A (p.Asp870Asn)
NM_001005361.3(DNM2):c.270G>A (p.Lys90=)
NM_001005361.3(DNM2):c.282T>C (p.Phe94=)
NM_001005361.3(DNM2):c.294G>A (p.Arg98=) rs2145911472
NM_001005361.3(DNM2):c.296A>G (p.Gln99Arg)
NM_001005361.3(DNM2):c.297G>A (p.Gln99=) rs896254945
NM_001005361.3(DNM2):c.313A>T (p.Thr105Ser)
NM_001005361.3(DNM2):c.322G>C (p.Val108Leu)
NM_001005361.3(DNM2):c.323T>G (p.Val108Gly)
NM_001005361.3(DNM2):c.331A>G (p.Thr111Ala) rs2145911597
NM_001005361.3(DNM2):c.331A>T (p.Thr111Ser) rs2145911597
NM_001005361.3(DNM2):c.345C>G (p.Ile115Met) rs753176358
NM_001005361.3(DNM2):c.353T>C (p.Val118Ala)
NM_001005361.3(DNM2):c.354G>A (p.Val118=)
NM_001005361.3(DNM2):c.368G>A (p.Arg123Gln)
NM_001005361.3(DNM2):c.369A>C (p.Arg123=)
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala) rs2071018084
NM_001005361.3(DNM2):c.385+11C>T
NM_001005361.3(DNM2):c.385+12G>A
NM_001005361.3(DNM2):c.385+6C>T rs746068458
NM_001005361.3(DNM2):c.385G>A (p.Val129Met)
NM_001005361.3(DNM2):c.386-6T>C rs114623441
NM_001005361.3(DNM2):c.394T>C (p.Leu132=) rs2145924405
NM_001005361.3(DNM2):c.399C>T (p.Thr133=)
NM_001005361.3(DNM2):c.417T>A (p.Gly139=)
NM_001005361.3(DNM2):c.427G>C (p.Val143Leu) rs1366173686
NM_001005361.3(DNM2):c.429G>A (p.Val143=) rs769461123
NM_001005361.3(DNM2):c.429G>T (p.Val143=)
NM_001005361.3(DNM2):c.433G>A (p.Val145Met)
NM_001005361.3(DNM2):c.438C>T (p.Gly146=)
NM_001005361.3(DNM2):c.439G>C (p.Asp147His) rs370086632
NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser) rs2071133001
NM_001005361.3(DNM2):c.451G>A (p.Asp151Asn) rs2145924541
NM_001005361.3(DNM2):c.454A>G (p.Ile152Val)
NM_001005361.3(DNM2):c.471G>T (p.Lys157Asn) rs757708760
NM_001005361.3(DNM2):c.481C>A (p.Leu161Met) rs1060503547
NM_001005361.3(DNM2):c.486G>A (p.Gln162=)
NM_001005361.3(DNM2):c.494G>A (p.Ser165Asn) rs1599529964
NM_001005361.3(DNM2):c.499G>A (p.Glu167Lys)
NM_001005361.3(DNM2):c.501G>A (p.Glu167=) rs751712223
NM_001005361.3(DNM2):c.507C>T (p.Ser169=)
NM_001005361.3(DNM2):c.514C>T (p.Leu172=) rs1599530007
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser) rs777564981
NM_001005361.3(DNM2):c.556G>T (p.Ala186Ser)
NM_001005361.3(DNM2):c.561C>T (p.Leu187=) rs1599530095
NM_001005361.3(DNM2):c.565C>A (p.Leu189Met)
NM_001005361.3(DNM2):c.570C>A (p.Ala190=)
NM_001005361.3(DNM2):c.573G>A (p.Lys191=)
NM_001005361.3(DNM2):c.577G>A (p.Val193Ile) rs2145924827
NM_001005361.3(DNM2):c.579C>G (p.Val193=)
NM_001005361.3(DNM2):c.589+10A>G rs2145924891
NM_001005361.3(DNM2):c.589+13C>T rs2145924904
NM_001005361.3(DNM2):c.589+17G>A
NM_001005361.3(DNM2):c.589+19C>A
NM_001005361.3(DNM2):c.589+5C>A rs1290724089
NM_001005361.3(DNM2):c.590-14C>T
NM_001005361.3(DNM2):c.590G>A (p.Gly197Asp)
NM_001005361.3(DNM2):c.594A>G (p.Leu198=) rs773813749
NM_001005361.3(DNM2):c.596G>A (p.Arg199Gln) rs1568294706
NM_001005361.3(DNM2):c.603C>A (p.Ile201=)
NM_001005361.3(DNM2):c.619C>G (p.Leu207Val)
NM_001005361.3(DNM2):c.625C>T (p.Leu209=) rs927749691
NM_001005361.3(DNM2):c.639C>T (p.Gly213=)
NM_001005361.3(DNM2):c.642C>G (p.Thr214=) rs752944817
NM_001005361.3(DNM2):c.642C>T (p.Thr214=) rs752944817
NM_001005361.3(DNM2):c.645C>A (p.Asp215Glu) rs148900299
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser) rs2071182880
NM_001005361.3(DNM2):c.648C>T (p.Ala216=) rs1060504950
NM_001005361.3(DNM2):c.655G>A (p.Val219Ile) rs111845811
NM_001005361.3(DNM2):c.658T>G (p.Leu220Val)
NM_001005361.3(DNM2):c.661G>A (p.Glu221Lys)
NM_001005361.3(DNM2):c.665A>G (p.Asn222Ser)
NM_001005361.3(DNM2):c.670T>A (p.Leu224Met) rs2145929613
NM_001005361.3(DNM2):c.688+11G>A
NM_001005361.3(DNM2):c.688+12G>A
NM_001005361.3(DNM2):c.688+12G>C
NM_001005361.3(DNM2):c.688+12G>T rs557057188
NM_001005361.3(DNM2):c.688+14G>T
NM_001005361.3(DNM2):c.688+17G>C
NM_001005361.3(DNM2):c.688G>A (p.Gly230Ser) rs1245632083
NM_001005361.3(DNM2):c.689-12C>T
NM_001005361.3(DNM2):c.689-19T>C
NM_001005361.3(DNM2):c.695T>A (p.Ile232Asn) rs749672066
NM_001005361.3(DNM2):c.695T>C (p.Ile232Thr) rs749672066
NM_001005361.3(DNM2):c.695T>G (p.Ile232Ser) rs749672066
NM_001005361.3(DNM2):c.700G>A (p.Val234Met) rs377159042
NM_001005361.3(DNM2):c.700G>T (p.Val234Leu)
NM_001005361.3(DNM2):c.717G>A (p.Gln239=)
NM_001005361.3(DNM2):c.726T>G (p.Ile242Met)
NM_001005361.3(DNM2):c.732C>G (p.Gly244=)
NM_001005361.3(DNM2):c.733A>G (p.Lys245Glu) rs2071429703
NM_001005361.3(DNM2):c.739G>C (p.Asp247His)
NM_001005361.3(DNM2):c.742A>G (p.Ile248Val)
NM_001005361.3(DNM2):c.744C>A (p.Ile248=) rs572493411
NM_001005361.3(DNM2):c.744C>G (p.Ile248Met)
NM_001005361.3(DNM2):c.744C>T (p.Ile248=)
NM_001005361.3(DNM2):c.746G>A (p.Arg249His)
NM_001005361.3(DNM2):c.756G>A (p.Leu252=) rs1422139221
NM_001005361.3(DNM2):c.758C>T (p.Ala253Val) rs752195631
NM_001005361.3(DNM2):c.759A>C (p.Ala253=)
NM_001005361.3(DNM2):c.767G>T (p.Arg256Met)
NM_001005361.3(DNM2):c.770A>G (p.Lys257Arg) rs1568298074
NM_001005361.3(DNM2):c.771G>A (p.Lys257=) rs2145960350
NM_001005361.3(DNM2):c.775T>C (p.Phe259Leu)
NM_001005361.3(DNM2):c.776T>C (p.Phe259Ser)
NM_001005361.3(DNM2):c.778C>A (p.Leu260Ile)
NM_001005361.3(DNM2):c.778C>G (p.Leu260Val) rs145607989
NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys) rs2071430985
NM_001005361.3(DNM2):c.784C>T (p.His262Tyr)
NM_001005361.3(DNM2):c.787C>T (p.Pro263Ser)
NM_001005361.3(DNM2):c.788C>G (p.Pro263Arg)
NM_001005361.3(DNM2):c.789G>C (p.Pro263=)
NM_001005361.3(DNM2):c.795C>T (p.Tyr265=)
NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp) rs552366130
NM_001005361.3(DNM2):c.802A>G (p.Met268Val)
NM_001005361.3(DNM2):c.806C>T (p.Ala269Val) rs868210157
NM_001005361.3(DNM2):c.812G>T (p.Arg271Leu) rs781546006
NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr) rs2071432774
NM_001005361.3(DNM2):c.837G>A (p.Lys279=) rs2145960645
NM_001005361.3(DNM2):c.838A>G (p.Thr280Ala) rs2071433079
NM_001005361.3(DNM2):c.848A>G (p.Gln283Arg)
NM_001005361.3(DNM2):c.849+19C>T rs558595804
NM_001005361.3(DNM2):c.849+7C>T rs2071433383
NM_001005361.3(DNM2):c.849+8A>C rs2145960743
NM_001005361.3(DNM2):c.849+9A>G
NM_001005361.3(DNM2):c.850-13CT[2] rs1404422473
NM_001005361.3(DNM2):c.850-3C>T
NM_001005361.3(DNM2):c.850-6C>T
NM_001005361.3(DNM2):c.850-7C>G rs778548382
NM_001005361.3(DNM2):c.852A>G (p.Gln284=)
NM_001005361.3(DNM2):c.857C>T (p.Thr286Ile) rs747798217
NM_001005361.3(DNM2):c.860A>G (p.Asn287Ser) rs1224102421
NM_001005361.3(DNM2):c.868C>G (p.Arg290Gly) rs587778235
NM_001005361.3(DNM2):c.876G>T (p.Ser292=) rs749140605
NM_001005361.3(DNM2):c.879G>C (p.Leu293=)
NM_001005361.3(DNM2):c.884C>T (p.Ala295Val)
NM_001005361.3(DNM2):c.885C>G (p.Ala295=)
NM_001005361.3(DNM2):c.888A>G (p.Leu296=)
NM_001005361.3(DNM2):c.890G>T (p.Arg297Leu) rs763894364
NM_001005361.3(DNM2):c.891T>G (p.Arg297=)
NM_001005361.3(DNM2):c.892A>G (p.Ser298Gly)
NM_001005361.3(DNM2):c.896A>G (p.Lys299Arg)
NM_001005361.3(DNM2):c.930G>A (p.Glu310=) rs1599552792
NM_001005361.3(DNM2):c.931G>A (p.Val311Met) rs2145978014
NM_001005361.3(DNM2):c.936G>A (p.Glu312=) rs949106319
NM_001005361.3(DNM2):c.949T>C (p.Phe317Leu) rs1057518858
NM_001005361.3(DNM2):c.953G>A (p.Arg318Gln) rs879254323
NM_001005361.3(DNM2):c.961G>A (p.Asp321Asn) rs745794161
NM_001005361.3(DNM2):c.971G>A (p.Arg324His)
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr) rs2145978260
NM_001005361.3(DNM2):c.987G>C (p.Leu329=) rs761023896
NM_001005361.3(DNM2):c.988C>T (p.Leu330=) rs2145978278
NM_001005361.3(DNM2):c.990G>A (p.Leu330=) rs1386181817
NM_001005361.3(DNM2):c.992+13G>A
NM_001005361.3(DNM2):c.992+13del
NM_001005361.3(DNM2):c.992+14C>T
NM_001005361.3(DNM2):c.992+17CCA[4]
NM_001005361.3(DNM2):c.992+17CCA[6]
NM_001005361.3(DNM2):c.992+19A>T rs2145978561
NM_001005361.3(DNM2):c.992+20C>G
NM_001005361.3(DNM2):c.992+3A>G rs1053695479
NM_001005361.3(DNM2):c.992+4T>C rs1225723240
NM_001005361.3(DNM2):c.992+4T>G rs1225723240
NM_001005361.3(DNM2):c.993-16T>A
NM_001005361.3(DNM2):c.993-16T>C
NM_001005361.3(DNM2):c.993-20C>T rs1239150270
NM_001005361.3(DNM2):c.993-7C>G rs2071833224
NM_001005361.3(DNM2):c.997G>A (p.Val333Ile)
NM_001190716.2(DNM2):c.2544-3_2544-1del

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