DNM2, 9BP DEL, NT1652


DNM2, LYS558 DEL


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


NM_001005360.2(DNM2):c.*106T>C

rs886054144 
NM_001005360.2(DNM2):c.*10G>A

rs200188660 
NM_001005360.2(DNM2):c.*14C>T

rs369529119 
NM_001005360.2(DNM2):c.*166G>A

rs886054145 
NM_001005360.2(DNM2):c.*22C>T

rs531170486 
NM_001005360.2(DNM2):c.*268A>T

rs12461992 
NM_001005360.2(DNM2):c.*29dup

rs575649173 
NM_001005360.2(DNM2):c.*312dup

rs886054146 
NM_001005360.2(DNM2):c.*35C>G

rs199700849 
NM_001005360.2(DNM2):c.*385C>T

rs78160240 
NM_001005360.2(DNM2):c.*386G>C

rs74952080 
NM_001005360.2(DNM2):c.*391C>T

rs886054147 
NM_001005360.2(DNM2):c.*453C>T

rs200104482 
NM_001005360.2(DNM2):c.*47G>A

rs367938944 
NM_001005360.2(DNM2):c.*550G>A

rs886054148 
NM_001005360.2(DNM2):c.*601C>T

rs185820576 
NM_001005360.2(DNM2):c.*607G>A

rs117954916 
NM_001005360.2(DNM2):c.*711T>C

rs886054149 
NM_001005360.2(DNM2):c.*79G>A

rs550692861 
NM_001005360.2(DNM2):c.*82C>T

rs569502521 
NM_001005360.2(DNM2):c.*88C>G

rs886054143 
NM_001005360.2(DNM2):c.122G>A

rs886054139 
NM_001005360.2(DNM2):c.153G>T

rs886054138 
NM_001005360.2(DNM2):c.19G>T

rs753599004 
NM_001005360.2(DNM2):c.48_47delinsTTGAGGGTCGCCCG

rs1064795874 
NM_001005360.2(DNM2):c.1004A>T (p.Gln335Leu)

rs759996048 
NM_001005360.2(DNM2):c.1010G>T (p.Gly337Val)

rs767838513 
NM_001005360.2(DNM2):c.102C>A (p.Ile34=)

rs552741402 
NM_001005360.2(DNM2):c.1032C>T (p.Ile344=)

rs747050783 
NM_001005360.2(DNM2):c.1051G>A (p.Val351Met)

rs876661176 
NM_001005360.2(DNM2):c.1070C>T (p.Ser357Phe)

rs1064793101 
NM_001005360.2(DNM2):c.1071C>T (p.Ser357=)

rs779241319 
NM_001005360.2(DNM2):c.1077C>T (p.Gly359=)

rs112238216 
NM_001005360.2(DNM2):c.1090C>T (p.Arg364Cys)

rs1568304333 
NM_001005360.2(DNM2):c.1095C>A (p.Ile365=)

rs746959606 
NM_001005360.2(DNM2):c.1101C>T (p.His367=)

rs768651920 
NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys)

rs121909092 
NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp)

rs121909090 
NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln)

rs121909089 
NM_001005360.2(DNM2):c.1106G>T (p.Arg369Leu)

rs121909089 
NM_001005360.2(DNM2):c.1124T>A (p.Val375Glu)

rs587783594 
NM_001005360.2(DNM2):c.1128+13G>A

rs772437963 
NM_001005360.2(DNM2):c.1128+158G>C

rs1610095 
NM_001005360.2(DNM2):c.1128+169T>C

rs2278444 
NM_001005360.2(DNM2):c.112940C>T

rs199742926 
NM_001005360.2(DNM2):c.1147G>T (p.Asp383Tyr)

rs1568305190 
NM_001005360.2(DNM2):c.1218C>T (p.Asp406=)

rs563985581 
NM_001005360.2(DNM2):c.1273C>A (p.Leu425Met)

rs879253980 
NM_001005360.2(DNM2):c.1286A>T (p.Asp429Val)

rs186762327 
NM_001005360.2(DNM2):c.1304T>G (p.Leu435Arg)

rs1555710681 
NM_001005360.2(DNM2):c.1322A>G (p.Gln441Arg)

rs1280243348 
NM_001005360.2(DNM2):c.1335+13C>T

rs150975494 
NM_001005360.2(DNM2):c.1335+18G>C

rs763908447 
NM_001005360.2(DNM2):c.1335+1G>A

rs1431565635 
NM_001005360.2(DNM2):c.1335+241A>G

rs79068463 
NM_001005360.2(DNM2):c.1335+939G>T

rs115609558 
NM_001005360.2(DNM2):c.13361062A>G

rs199927590 
NM_001005360.2(DNM2):c.1336196C>G

rs180679346 
NM_001005360.2(DNM2):c.1352G>A (p.Arg451Gln)

rs749154067 
NM_001005360.2(DNM2):c.1354T>G (p.Leu452Val)

rs770599060 
NM_001005360.2(DNM2):c.1358G>A (p.Arg453Gln)

rs140043676 
NM_001005360.2(DNM2):c.1370A>G (p.Glu457Gly)

rs1555711301 
NM_001005360.2(DNM2):c.1372C>G (p.Arg458Gly)

rs745748213 
NM_001005360.2(DNM2):c.1377C>T (p.Ile459=)

rs369345296 
NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala)

rs201575500 
NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp)

rs121909091 
NM_001005360.2(DNM2):c.1418A>T (p.Asp473Val)

rs766613900 
NM_001005360.2(DNM2):c.1422+9C>T

rs199952853 
NM_001005360.2(DNM2):c.142312G>A

rs376753915 
NM_001005360.2(DNM2):c.142313C>T

rs771343870 
NM_001005360.2(DNM2):c.14234C>T

rs552776205 
NM_001005360.2(DNM2):c.14239C>G

rs371006369 
NM_001005360.2(DNM2):c.1426C>A (p.Leu476Ile)

rs1568309121 
NM_001005360.2(DNM2):c.142C>T (p.Leu48=)

rs753989925 
NM_001005360.2(DNM2):c.1437C>T (p.Ile479=)

rs146506201 
NM_001005360.2(DNM2):c.1449G>A (p.Gln483=)

rs750299400 
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val)

rs758246840 
NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)

rs746903992 
NM_001005360.2(DNM2):c.1493+16G>A

rs1446097383 
NM_001005360.2(DNM2):c.1493A>G (p.Asn498Ser)

rs886054140 
NM_001005360.2(DNM2):c.149419G>T

rs1032876620 
NM_001005360.2(DNM2):c.149443C>G

rs2287028 
NM_001005360.2(DNM2):c.1512G>A (p.Thr504=)

rs767407905 
NM_001005360.2(DNM2):c.1518G>C (p.Leu506=)

rs201426481 
NM_001005360.2(DNM2):c.1526A>G (p.Lys509Arg)

rs1555712608 
NM_001005360.2(DNM2):c.1545+11C>T

rs1555712626 
NM_001005360.2(DNM2):c.1545+14C>G

rs114713494 
NM_001005360.2(DNM2):c.1545+41C>T

rs2287029 
NM_001005360.2(DNM2):c.154616C>T

rs375554484 
NM_001005360.2(DNM2):c.154618A>C

rs1426762153 
NM_001005360.2(DNM2):c.1552A>G (p.Ile518Val)

rs753402698 
NM_001005360.2(DNM2):c.1557+9A>T

rs778469445 
NM_001005360.2(DNM2):c.1565G>A (p.Arg522His)

rs587783595 
NM_001005360.2(DNM2):c.1565G>T (p.Arg522Leu)

rs587783595 
NM_001005360.2(DNM2):c.1567A>G (p.Arg523Gly)

rs587783596 
NM_001005360.2(DNM2):c.1584C>T (p.Ile528=)

rs935512495 
NM_001005360.2(DNM2):c.1594A>G (p.Ser532Gly)

rs368752035 
NM_001005360.2(DNM2):c.161+122C>A

rs116956287 
NM_001005360.2(DNM2):c.161+248G>C

rs75654370 
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met)

rs1568314284 
NM_001005360.2(DNM2):c.16212C>T

rs746299224 
NM_001005360.2(DNM2):c.16216T>C

rs573469750 
NM_001005360.2(DNM2):c.1627C>A

rs148318860 
NM_001005360.2(DNM2):c.1627C>T

rs148318860 
NM_001005360.2(DNM2):c.1629C>A

rs200736669 
NM_001005360.2(DNM2):c.1629C>G

rs200736669 
NM_001005360.2(DNM2):c.1641C>A (p.Ala547=)

rs538253489 
NM_001005360.2(DNM2):c.1645T>A (p.Ser549Thr)

rs144763522 
NM_001005360.2(DNM2):c.1665T>C (p.Asp555=)

rs1555713814 
NM_001005360.2(DNM2):c.1671+3G>C

rs942932745 
NM_001005360.2(DNM2):c.1678G>A (p.Glu560Lys)

rs879254086 
NM_001005360.2(DNM2):c.1716C>A (p.Ile572=)

rs776999450 
NM_001005360.2(DNM2):c.1718G>A (p.Arg573His)

rs1555715216 
NM_001005360.2(DNM2):c.1731G>A (p.Lys577=)

rs35365412 
NM_001005360.2(DNM2):c.1731G>C (p.Lys577Asn)

rs35365412 
NM_001005360.2(DNM2):c.1739T>C (p.Met580Thr)

rs1269225724 
NM_001005360.2(DNM2):c.1747A>G (p.Lys583Glu)

rs1568318798 
NM_001005360.2(DNM2):c.1758C>T (p.Phe586=)

rs766274376 
NM_001005360.2(DNM2):c.1772C>T (p.Thr591Met)

rs372876881 
NM_001005360.2(DNM2):c.1773G>A (p.Thr591=)

rs201604679 
NM_001005360.2(DNM2):c.177C>A (p.Arg59=)

rs762795230 
NM_001005360.2(DNM2):c.177C>T (p.Arg59=)

rs762795230 
NM_001005360.2(DNM2):c.1781+17C>A

rs75344643 
NM_001005360.2(DNM2):c.1781+6G>T

rs1568318838 
NM_001005360.2(DNM2):c.178211C>T

rs78580529 
NM_001005360.2(DNM2):c.17824G>A

rs767424969 
NM_001005360.2(DNM2):c.17824G>C

rs767424969 
NM_001005360.2(DNM2):c.17825C>T

rs200103145 
NM_001005360.2(DNM2):c.17825del

rs760441017 
NM_001005360.2(DNM2):c.17825dup

rs760441017 
NM_001005360.2(DNM2):c.17827C>A

rs200843089 
NM_001005360.2(DNM2):c.1809C>G (p.Ile603Met)

rs780409124 
NM_001005360.2(DNM2):c.1827C>T (p.Ser609=)

rs371412466 
NM_001005360.2(DNM2):c.1836C>T (p.Asp612=)

rs767061986 
NM_001005360.2(DNM2):c.1837G>A (p.Val613Met)

rs748286191 
NM_001005360.2(DNM2):c.183A>G (p.Ser61=)

rs149555942 
NM_001005360.2(DNM2):c.1852G>A (p.Ala618Thr)

rs773598203 
NM_001005360.2(DNM2):c.1852G>T (p.Ala618Ser)

rs773598203 
NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp)

rs1555715869 
NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu)

rs121909095 
NM_001005360.2(DNM2):c.1858T>C (p.Phe620Leu)

rs1274228418 
NM_001005360.2(DNM2):c.1862T>C (p.Leu621Pro)

rs587783597 
NM_001005360.2(DNM2):c.1872C>T (p.Gly624=)

rs774256221 
NM_001005360.2(DNM2):c.1879C>G (p.Pro627Ala)

rs886039704 
NM_001005360.2(DNM2):c.1880C>G (p.Pro627Arg)

rs587783598 
NM_001005360.2(DNM2):c.1893+10C>T

rs147321173 
NM_001005360.2(DNM2):c.1893+17C>T

rs45585238 
NM_001005360.2(DNM2):c.1893+18G>A

rs368748557 
NM_001005360.2(DNM2):c.1893+248T>C

rs67417605 
NM_001005360.2(DNM2):c.1894181G>A

rs114589854 
NM_001005360.2(DNM2):c.18949C>T

rs377410182 
NM_001005360.2(DNM2):c.1902C>T (p.Asn634=)

rs2229919 
NM_001005360.2(DNM2):c.1903G>A (p.Glu635Lys)

rs761198315 
NM_001005360.2(DNM2):c.190G>A (p.Val64Ile)

rs144250390 
NM_001005360.2(DNM2):c.1912G>A (p.Ala638Thr)

rs587778236 
NM_001005360.2(DNM2):c.1934T>C (p.Met645Thr)

rs879253969 
NM_001005360.2(DNM2):c.1952G>A (p.Arg651Gln)

rs1568321851 
NM_001005360.2(DNM2):c.1969C>T (p.Arg657Cys)

rs772920450 
NM_001005360.2(DNM2):c.1973A>G (p.Asn658Ser)

rs753175954 
NM_001005360.2(DNM2):c.197G>A (p.Arg66Gln)

rs1568283807 
NM_001005360.2(DNM2):c.200G>A (p.Arg67Gln)

rs752080566 
NM_001005360.2(DNM2):c.2011A>G (p.Ile671Val)

rs1568321953 
NM_001005360.2(DNM2):c.2016C>T (p.Arg672=)

rs368131004 
NM_001005360.2(DNM2):c.2023A>G (p.Met675Val)

rs1555716140 
NM_001005360.2(DNM2):c.2031G>A (p.Lys677=)

rs768285660 
NM_001005360.2(DNM2):c.2041C>A (p.His681Asn)

rs1437296623 
NM_001005360.2(DNM2):c.2058+262A>G

rs12973986 
NM_001005360.2(DNM2):c.2059136G>C

rs8109524 
NM_001005360.2(DNM2):c.2061G>A (p.Thr687=)

rs149164657 
NM_001005360.2(DNM2):c.2105C>T (p.Ser702Leu)

rs745382488 
NM_001005360.2(DNM2):c.2106G>C (p.Ser702=)

rs554971107 
NM_001005360.2(DNM2):c.210T>C (p.Ile70=)

rs878854149 
NM_001005360.2(DNM2):c.2136G>T (p.Ser712=)

rs1555716924 
NM_001005360.2(DNM2):c.2144A>G (p.Gln715Arg)

rs374041367 
NM_001005360.2(DNM2):c.2160C>T (p.Asp720=)

rs117598326 
NM_001005360.2(DNM2):c.216G>A (p.Gln72=)

rs368075301 
NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr)

rs142963320 
NM_001005360.2(DNM2):c.2197C>T (p.Leu733Phe)

rs1568324227 
NM_001005360.2(DNM2):c.2201A>G (p.Asn734Ser)

rs577767034 
NM_001005360.2(DNM2):c.2231T>C (p.Val744Ala)

rs777609224 
NM_001005360.2(DNM2):c.2233T>A (p.Ser745Thr)

rs1568324267 
NM_001005360.2(DNM2):c.2253T>C (p.Pro751=)

rs200155565 
NM_001005360.2(DNM2):c.2256C>G (p.Val752=)

rs751020224 
NM_001005360.2(DNM2):c.2264C>A (p.Thr755Asn)

rs754691182 
NM_001005360.2(DNM2):c.2269C>A (p.Leu757Ile)

rs375820696 
NM_001005360.2(DNM2):c.2276G>A (p.Ser759Asn)

rs879254300 
NM_001005360.2(DNM2):c.2286C>A (p.Ser762Arg)

rs1568324385 
NM_001005360.2(DNM2):c.2291+153G>A

rs113951641 
NM_001005360.2(DNM2):c.2291+4C>T

rs200408852 
NM_001005360.2(DNM2):c.229215T>A

rs534518685 
NM_001005360.2(DNM2):c.2292C>T (p.Ser764=)

rs779394836 
NM_001005360.2(DNM2):c.2305C>T (p.Arg769Cys)

rs374864354 
NM_001005360.2(DNM2):c.2308C>T (p.Arg770Ter)

rs1599641077 
NM_001005360.2(DNM2):c.2313G>A (p.Pro771=)

rs147463138 
NM_001005360.2(DNM2):c.235+10G>A

rs769906659 
NM_001005360.2(DNM2):c.235+12C>A

rs147026993 
NM_001005360.2(DNM2):c.235+12C>T

rs147026993 
NM_001005360.2(DNM2):c.235+6A>G

rs113192269 
NM_001005360.2(DNM2):c.2356G>T (p.Gly786Cys)

rs1555717200 
NM_001005360.2(DNM2):c.23629C>G

rs3826803 
NM_001005360.2(DNM2):c.2368C>G

rs143084059 
NM_001005360.2(DNM2):c.2365C>G (p.Pro789Ala)

rs876661218 
NM_001005360.2(DNM2):c.2372C>A (p.Pro791His)

rs780738840 
NM_001005360.2(DNM2):c.238C>T (p.His80Tyr)

rs148790687 
NM_001005360.2(DNM2):c.2391C>T (p.Pro797=)

rs777834732 
NM_001005360.2(DNM2):c.2411_2413del (p.Phe804del)

rs752014734 
NM_001005360.2(DNM2):c.2418G>A (p.Ala806=)

rs200968756 
NM_001005360.2(DNM2):c.2435G>A (p.Arg812Gln)

rs1285468865 
NM_001005360.2(DNM2):c.243C>T (p.Ala81=)

rs755366581 
NM_001005360.2(DNM2):c.2443C>T (p.Pro815Ser)

rs1438459794 
NM_001005360.2(DNM2):c.2451C>T (p.Ser817=)

rs751961437 
NM_001005360.2(DNM2):c.2452G>A (p.Val818Met)

rs755608537 
NM_001005360.2(DNM2):c.2479G>A (p.Ala827Thr)

rs1599641452 
NM_001005360.2(DNM2):c.2484G>A (p.Pro828=)

rs114682382 
NM_001005360.2(DNM2):c.2497T>C (p.Ser833Pro)

rs1253864930 
NM_001005360.2(DNM2):c.2511G>A (p.Arg837=)

rs200100669 
NM_001005360.2(DNM2):c.2531C>T (p.Pro844Leu)

rs1398139585 
NM_001005360.2(DNM2):c.2543+7C>G

rs201979143 
NM_001005360.2(DNM2):c.254419G>A

rs769617279 
NM_001005360.2(DNM2):c.2544_2546delCAG


NM_001005360.2(DNM2):c.2560G>T (p.Ala854Ser)

rs886054141 
NM_001005360.2(DNM2):c.2561C>T (p.Ala854Val)

rs776073354 
NM_001005360.2(DNM2):c.2562G>A (p.Ala854=)

rs761141093 
NM_001005360.2(DNM2):c.2567G>A (p.Ser856Asn)

rs149825590 
NM_001005360.2(DNM2):c.2576_2581del (p.Thr859_Ile860del)

rs876661117 
NM_001005360.2(DNM2):c.2592C>T (p.Ala864=)

rs373161548 
NM_001005360.2(DNM2):c.2593G>A (p.Glu865Lys)

rs746818628 
NM_001005360.2(DNM2):c.2607C>A (p.Leu869=)

rs144472798 
NM_001005360.2(DNM2):c.266A>G (p.Lys89Arg)

rs1340636700 
NM_001005360.2(DNM2):c.292C>T (p.Arg98Trp)

rs200408053 
NM_001005360.2(DNM2):c.312G>A (p.Glu104=)

rs144970326 
NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn)

rs375151459 
NM_001005360.2(DNM2):c.31C>T (p.Pro11Ser)

rs1014814501 
NM_001005360.2(DNM2):c.33G>A (p.Pro11=)

rs779502758 
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met)

rs753176358 
NM_001005360.2(DNM2):c.384C>T (p.His128=)

rs201089328 
NM_001005360.2(DNM2):c.385+60A>G

rs116398690 
NM_001005360.2(DNM2):c.386173G>T

rs4804528 
NM_001005360.2(DNM2):c.3866T>A

rs114623441 
NM_001005360.2(DNM2):c.402C>T (p.Leu134=)

rs748069348 
NM_001005360.2(DNM2):c.439G>A (p.Asp147Asn)

rs370086632 
NM_001005360.2(DNM2):c.450A>G (p.Pro150=)

rs766121627 
NM_001005360.2(DNM2):c.471G>A (p.Lys157=)

rs757708760 
NM_001005360.2(DNM2):c.480C>T (p.Ile160=)

rs140036663 
NM_001005360.2(DNM2):c.481C>A (p.Leu161Met)

rs1060503547 
NM_001005360.2(DNM2):c.494G>A (p.Ser165Asn)

rs1599529964 
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln)

rs200002469 
NM_001005360.2(DNM2):c.519T>C (p.Ala173=)

rs77702567 
NM_001005360.2(DNM2):c.528C>T (p.Pro176=)

rs147579870 
NM_001005360.2(DNM2):c.535A>G (p.Met179Val)

rs748887276 
NM_001005360.2(DNM2):c.555C>T (p.Asp185=)

rs140788791 
NM_001005360.2(DNM2):c.589+17G>T

rs374377836 
NM_001005360.2(DNM2):c.590168T>C

rs10405772 
NM_001005360.2(DNM2):c.59031CCTCTGA[3]

rs748362325 
NM_001005360.2(DNM2):c.596G>A (p.Arg199Gln)

rs1568294706 
NM_001005360.2(DNM2):c.633C>T (p.Asp211=)

rs200191870 
NM_001005360.2(DNM2):c.636G>T (p.Glu212Asp)

rs542515194 
NM_001005360.2(DNM2):c.637G>T (p.Gly213Cys)

rs767908123 
NM_001005360.2(DNM2):c.643G>A (p.Asp215Asn)

rs145478270 
NM_001005360.2(DNM2):c.645C>A (p.Asp215Glu)

rs148900299 
NM_001005360.2(DNM2):c.645C>T (p.Asp215=)

rs148900299 
NM_001005360.2(DNM2):c.648C>T (p.Ala216=)

rs1060504950 
NM_001005360.2(DNM2):c.655G>A (p.Val219Ile)

rs111845811 
NM_001005360.2(DNM2):c.666C>T (p.Asn222=)

rs2229921 
NM_001005360.2(DNM2):c.677C>T (p.Pro226Leu)

rs779734638 
NM_001005360.2(DNM2):c.688+15del

rs1555706470 
NM_001005360.2(DNM2):c.6893C>T

rs373330742 
NM_001005360.2(DNM2):c.695T>A (p.Ile232Asn)

rs749672066 
NM_001005360.2(DNM2):c.695T>C (p.Ile232Thr)

rs749672066 
NM_001005360.2(DNM2):c.699C>T (p.Gly233=)

rs751844947 
NM_001005360.2(DNM2):c.700G>C (p.Val234Leu)

rs377159042 
NM_001005360.2(DNM2):c.736A>T (p.Lys246Ter)

rs1555707649 
NM_001005360.2(DNM2):c.750A>G (p.Ala250=)

rs202214529 
NM_001005360.2(DNM2):c.758C>T (p.Ala253Val)

rs752195631 
NM_001005360.2(DNM2):c.778C>G (p.Leu260Val)

rs145607989 
NM_001005360.2(DNM2):c.788C>T (p.Pro263Leu)

rs3745674 
NM_001005360.2(DNM2):c.789G>A (p.Pro263=)

rs199976453 
NM_001005360.2(DNM2):c.797G>A (p.Arg266Gln)

rs754507545 
NM_001005360.2(DNM2):c.800A>G (p.His267Arg)

rs1412618988 
NM_001005360.2(DNM2):c.811C>T (p.Arg271Cys)

rs138128705 
NM_001005360.2(DNM2):c.812G>A (p.Arg271His)

rs781546006 
NM_001005360.2(DNM2):c.819C>T (p.Gly273=)

rs1464745378 
NM_001005360.2(DNM2):c.81C>T (p.Cys27=)

rs534605878 
NM_001005360.2(DNM2):c.821C>T (p.Thr274Met)

rs746387165 
NM_001005360.2(DNM2):c.822G>A (p.Thr274=)

rs201763720 
NM_001005360.2(DNM2):c.831G>A (p.Leu277=)

rs1555707690 
NM_001005360.2(DNM2):c.839C>T (p.Thr280Met)

rs202155679 
NM_001005360.2(DNM2):c.83A>T (p.His28Leu)

rs774962668 
NM_001005360.2(DNM2):c.8507C>G

rs778548382 
NM_001005360.2(DNM2):c.853C>G (p.Leu285Val)

rs878854382 
NM_001005360.2(DNM2):c.858C>G (p.Thr286=)

rs542637338 
NM_001005360.2(DNM2):c.868C>G (p.Arg290Gly)

rs587778235 
NM_001005360.2(DNM2):c.868C>T (p.Arg290Trp)

rs587778235 
NM_001005360.2(DNM2):c.876G>A (p.Ser292=)

rs749140605 
NM_001005360.2(DNM2):c.882G>A (p.Pro294=)

rs144790170 
NM_001005360.2(DNM2):c.889C>T (p.Arg297Cys)

rs760254039 
NM_001005360.2(DNM2):c.890G>A (p.Arg297His)

rs763894364 
NM_001005360.2(DNM2):c.8A>G (p.Asn3Ser)

rs890297188 
NM_001005360.2(DNM2):c.90C>T (p.Asp30=)

rs759919549 
NM_001005360.2(DNM2):c.934G>A (p.Glu312Lys)

rs370636702 
NM_001005360.2(DNM2):c.949T>C (p.Phe317Leu)

rs1057518858 
NM_001005360.2(DNM2):c.953G>A (p.Arg318Gln)

rs879254323 
NM_001005360.2(DNM2):c.957C>T (p.Pro319=)

rs141911457 
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn)

rs150613209 
NM_001005360.2(DNM2):c.992+11C>T

rs761511769 
NM_001005360.2(DNM2):c.992+231G>A

rs8102648 
NM_001005360.2(DNM2):c.992+4T>C

rs1225723240 
NM_001005360.2(DNM2):c.992A>G (p.Gln331Arg)

rs879254084 
NM_001005360.2(DNM2):c.99314C>T

rs761380478 
NM_001005361.3(DNM2):c.*185A>C


NM_001005361.3(DNM2):c.*214C>T


NM_001005361.3(DNM2):c.*321A>G


NM_001005361.3(DNM2):c.*373G>A


NM_001005361.3(DNM2):c.*379C>T


NM_001005361.3(DNM2):c.*671T>C


NM_001005361.3(DNM2):c.*716C>T


NM_001005361.3(DNM2):c.*751T>A


NM_001005361.3(DNM2):c.116C>T


NM_001005361.3(DNM2):c.1012G>A (p.Val338Met)


NM_001005361.3(DNM2):c.1040C>T (p.Ser347Leu)


NM_001005361.3(DNM2):c.1090C>G (p.Arg364Gly)


NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)


NM_001005361.3(DNM2):c.1110C>T (p.Phe370=)

rs201700534 
NM_001005361.3(DNM2):c.1128+10C>A

rs1010041153 
NM_001005361.3(DNM2):c.1134G>C (p.Glu378Asp)


NM_001005361.3(DNM2):c.1141G>A (p.Glu381Lys)


NM_001005361.3(DNM2):c.1161G>T (p.Glu387Asp)


NM_001005361.3(DNM2):c.1188T>C (p.His396=)

rs1039592560 
NM_001005361.3(DNM2):c.1196+625C>T

rs542089703 
NM_001005361.3(DNM2):c.1196+626G>A


NM_001005361.3(DNM2):c.1196+628G>C

rs374376619 
NM_001005361.3(DNM2):c.1196+640G>A


NM_001005361.3(DNM2):c.1196+652C>T

rs377319162 
NM_001005361.3(DNM2):c.1196+658C>T

rs1599569966 
NM_001005361.3(DNM2):c.1196+677G>A

rs763986985 
NM_001005361.3(DNM2):c.1196+707G>C


NM_001005361.3(DNM2):c.1196+710G>A


NM_001005361.3(DNM2):c.1196+730A>G

rs1599570127 
NM_001005361.3(DNM2):c.1218C>T (p.Asp406=)

rs147668465 
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp)


NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu)


NM_001005361.3(DNM2):c.1368A>G (p.Thr456=)

rs1207399656 
NM_001005361.3(DNM2):c.1372C>A (p.Arg458=)


NM_001005361.3(DNM2):c.1373G>A (p.Arg458Gln)


NM_001005361.3(DNM2):c.1378G>A (p.Val460Ile)


NM_001005361.3(DNM2):c.1400G>A (p.Arg467Gln)


NM_001005361.3(DNM2):c.14238T>C

rs1599583116 
NM_001005361.3(DNM2):c.1438G>A (p.Asp480Asn)


NM_001005361.3(DNM2):c.1493+5G>A


NM_001005361.3(DNM2):c.1511C>T (p.Thr504Met)


NM_001005361.3(DNM2):c.1547G>A (p.Gly516Glu)

rs1599595311 
NM_001005361.3(DNM2):c.15587C>A

rs184310103 
NM_001005361.3(DNM2):c.15589T>G

rs748026953 
NM_001005361.3(DNM2):c.1608C>T (p.Gly536=)

rs774973372 
NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly)


NM_001005361.3(DNM2):c.1628C>A

rs747484495 
NM_001005361.3(DNM2):c.1659C>T (p.Tyr553=)

rs1399189951 
NM_001005361.3(DNM2):c.1671+14G>A


NM_001005361.3(DNM2):c.1708C>T (p.Leu570Phe)


NM_001005361.3(DNM2):c.1721A>C (p.Asp574Ala)


NM_001005361.3(DNM2):c.1735_1737dup (p.Phe579dup)


NM_001005361.3(DNM2):c.17826C>T

rs963604980 
NM_001005361.3(DNM2):c.17827C>G


NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)


NM_001005361.3(DNM2):c.1948G>A (p.Glu650Lys)


NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)


NM_001005361.3(DNM2):c.1965C>T (p.Thr655=)

rs201972896 
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe)


NM_001005361.3(DNM2):c.1989C>T (p.Tyr663=)

rs754264521 
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met)


NM_001005361.3(DNM2):c.1993G>A (p.Ala665Thr)

rs1262634479 
NM_001005361.3(DNM2):c.2035A>G (p.Ile679Val)

rs1381561772 
NM_001005361.3(DNM2):c.2106G>A (p.Ser702=)


NM_001005361.3(DNM2):c.2139T>C (p.Ala713=)

rs2229920 
NM_001005361.3(DNM2):c.2152C>T (p.Arg718Trp)


NM_001005361.3(DNM2):c.2153G>A (p.Arg718Gln)


NM_001005361.3(DNM2):c.2161G>A (p.Asp721Asn)


NM_001005361.3(DNM2):c.2173A>G (p.Met725Val)


NM_001005361.3(DNM2):c.2194G>A (p.Ala732Thr)


NM_001005361.3(DNM2):c.2195C>T (p.Ala732Val)


NM_001005361.3(DNM2):c.219C>A (p.Leu73=)

rs372012614 
NM_001005361.3(DNM2):c.2237C>T (p.Thr746Met)

rs202136528 
NM_001005361.3(DNM2):c.2238G>T (p.Thr746=)

rs370550750 
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser)


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)


NM_001005361.3(DNM2):c.2256C>T (p.Val752=)

rs751020224 
NM_001005361.3(DNM2):c.2291+5G>A


NM_001005361.3(DNM2):c.22927C>G


NM_001005361.3(DNM2):c.22928C>A


NM_001005361.3(DNM2):c.2295C>T (p.Pro765=)

rs1040102521 
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile)


NM_001005361.3(DNM2):c.2311C>A (p.Pro771Thr)


NM_001005361.3(DNM2):c.2312C>T (p.Pro771Leu)

rs202060910 
NM_001005361.3(DNM2):c.2328C>A (p.His776Gln)


NM_001005361.3(DNM2):c.2338C>T (p.Arg780Trp)


NM_001005361.3(DNM2):c.2358C>A (p.Gly786=)


NM_001005361.3(DNM2):c.2376_2378del (p.Leu793del)


NM_001005361.3(DNM2):c.2395G>A (p.Gly799Arg)


NM_001005361.3(DNM2):c.2414C>T (p.Ser805Leu)


NM_001005361.3(DNM2):c.2417C>T (p.Ala806Val)


NM_001005361.3(DNM2):c.2432C>T (p.Ser811Phe)


NM_001005361.3(DNM2):c.2437C>T (p.Pro813Ser)


NM_001005361.3(DNM2):c.2438C>T (p.Pro813Leu)


NM_001005361.3(DNM2):c.2451C>G (p.Ser817Arg)


NM_001005361.3(DNM2):c.2514C>T (p.Ile838=)

rs200782592 
NM_001005361.3(DNM2):c.2526T>A (p.Ile842=)

rs1173105671 
NM_001005361.3(DNM2):c.2543+5G>C


NM_001005361.3(DNM2):c.25443C>T


NM_001005361.3(DNM2):c.2584C>T (p.Arg862Cys)


NM_001005361.3(DNM2):c.2596C>T (p.Pro866Ser)


NM_001005361.3(DNM2):c.2606T>C (p.Leu869Pro)


NM_001005361.3(DNM2):c.2607C>T (p.Leu869=)

rs144472798 
NM_001005361.3(DNM2):c.315C>T (p.Thr105=)

rs111837150 
NM_001005361.3(DNM2):c.327G>A (p.Thr109=)

rs369843334 
NM_001005361.3(DNM2):c.376T>G (p.Ser126Ala)


NM_001005361.3(DNM2):c.3866T>C

rs114623441 
NM_001005361.3(DNM2):c.414G>A (p.Pro138=)


NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser)


NM_001005361.3(DNM2):c.453C>T (p.Asp151=)

rs201681441 
NM_001005361.3(DNM2):c.471G>T (p.Lys157Asn)

rs757708760 
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp)


NM_001005361.3(DNM2):c.501G>A (p.Glu167=)

rs751712223 
NM_001005361.3(DNM2):c.514C>T (p.Leu172=)

rs1599530007 
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser)


NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu)


NM_001005361.3(DNM2):c.561C>T (p.Leu187=)

rs1599530095 
NM_001005361.3(DNM2):c.57C>T (p.Ala19=)

rs1599402522 
NM_001005361.3(DNM2):c.591C>T (p.Gly197=)


NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp)


NM_001005361.3(DNM2):c.625C>T (p.Leu209=)

rs927749691 
NM_001005361.3(DNM2):c.642C>G (p.Thr214=)

rs752944817 
NM_001005361.3(DNM2):c.646G>T (p.Ala216Ser)


NM_001005361.3(DNM2):c.700G>A (p.Val234Met)


NM_001005361.3(DNM2):c.72C>T (p.Gly24=)


NM_001005361.3(DNM2):c.782C>G (p.Ser261Cys)


NM_001005361.3(DNM2):c.796C>T (p.Arg266Trp)


NM_001005361.3(DNM2):c.806C>T (p.Ala269Val)


NM_001005361.3(DNM2):c.807C>T (p.Ala269=)

rs752361306 
NM_001005361.3(DNM2):c.808G>A (p.Asp270Asn)


NM_001005361.3(DNM2):c.812G>T (p.Arg271Leu)


NM_001005361.3(DNM2):c.823C>A (p.Pro275Thr)


NM_001005361.3(DNM2):c.849+7C>T


NM_001005361.3(DNM2):c.857C>T (p.Thr286Ile)


NM_001005361.3(DNM2):c.869G>A (p.Arg290Gln)

rs117398902 
NM_001005361.3(DNM2):c.890G>T (p.Arg297Leu)


NM_001005361.3(DNM2):c.900A>G (p.Leu300=)

rs1599552753 
NM_001005361.3(DNM2):c.906C>T (p.Ser302=)

rs1314241405 
NM_001005361.3(DNM2):c.930G>A (p.Glu310=)

rs1599552792 
NM_001005361.3(DNM2):c.936G>A (p.Glu312=)

rs949106319 
NM_001005361.3(DNM2):c.944A>G (p.Lys315Arg)

rs148105340 
NM_001005361.3(DNM2):c.960C>T (p.Asp320=)

rs774137901 
NM_001005361.3(DNM2):c.961G>A (p.Asp321Asn)

rs745794161 
NM_001005361.3(DNM2):c.990G>A (p.Leu330=)

rs1386181817 
NM_001005361.3(DNM2):c.9935C>T

rs1465269872 
NM_001190716.2(DNM2):c.1021G>A (p.Glu341Lys)

rs864309705 
NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg)

rs267606772 
NM_004945.3(DNM2):c.1135T>G (p.Phe379Val)

rs397514735 
NM_004945.3(DNM2):c.149A>G (p.Asn50Ser)

rs757121012 
NM_004945.3(DNM2):c.1597G>A (p.Gly533Ser)

rs121909093 
NM_004945.3(DNM2):c.1597G>T (p.Gly533Cys)

rs121909093 
NM_004945.3(DNM2):c.1626del

rs766449694 
NM_004945.3(DNM2):c.164A>G (p.Asp55Gly)

rs587778234 
NM_004945.3(DNM2):c.1652_1659+1del

rs1568314339 
NM_004945.3(DNM2):c.1663_1665del (p.Lys555del)

rs1599620398 
NM_004945.3(DNM2):c.1664A>G (p.Lys555Arg)

rs886043756 
NM_004945.3(DNM2):c.1669_1671AAG[1] (p.Lys558del)

rs1599620408 
NM_004945.3(DNM2):c.1672A>G (p.Lys558Glu)

rs121909088 
NM_004945.3(DNM2):c.1697T>A (p.Leu566His)

rs121909094 
NM_004945.3(DNM2):c.1798G>A (p.Glu600Lys)

rs951875086 
NM_004945.3(DNM2):c.1844C>G (p.Ser615Trp)

rs121909095 
NM_004945.3(DNM2):c.2088_2090CTC[1] (p.Ser698del)

rs1324559612 
NM_004945.3(DNM2):c.2561_2563CCA[1] (p.Thr855del)

rs1599643472 
NM_004945.3(DNM2):c.2577A>C (p.Pro859=)

rs1555717448 