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.*166G>A
|
rs886054145 |
NM_001005360.2(DNM2):c.*391C>T
|
rs886054147 |
NM_001005360.2(DNM2):c.*550G>A
|
rs886054148 |
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.1010G>T (p.Gly337Val)
|
rs767838513 |
NM_001005360.2(DNM2):c.1051G>A (p.Val351Met)
|
rs876661176 |
NM_001005360.2(DNM2):c.1273C>A (p.Leu425Met)
|
rs879253980 |
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+1G>A
|
rs1431565635 |
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.1372C>G (p.Arg458Gly)
|
rs745748213 |
NM_001005360.2(DNM2):c.1418A>T (p.Asp473Val)
|
rs766613900 |
NM_001005360.2(DNM2):c.1423-9C>G
|
rs371006369 |
NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val)
|
rs758246840 |
NM_001005360.2(DNM2):c.1493A>G (p.Asn498Ser)
|
rs886054140 |
NM_001005360.2(DNM2):c.1526A>G (p.Lys509Arg)
|
rs1555712608 |
NM_001005360.2(DNM2):c.1552A>G (p.Ile518Val)
|
rs753402698 |
NM_001005360.2(DNM2):c.1594A>G (p.Ser532Gly)
|
rs368752035 |
NM_001005360.2(DNM2):c.1616A>T (p.Lys539Met)
|
rs1568314284 |
NM_001005360.2(DNM2):c.162-9C>A
|
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.1671+3G>C
|
rs942932745 |
NM_001005360.2(DNM2):c.1718G>A (p.Arg573His)
|
rs1555715216 |
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.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.1781+6G>T
|
rs1568318838 |
NM_001005360.2(DNM2):c.1782-7C>A
|
rs200843089 |
NM_001005360.2(DNM2):c.1852G>T (p.Ala618Ser)
|
rs773598203 |
NM_001005360.2(DNM2):c.1858T>C (p.Phe620Leu)
|
rs1274228418 |
NM_001005360.2(DNM2):c.1903G>A (p.Glu635Lys)
|
rs761198315 |
NM_001005360.2(DNM2):c.1912G>A (p.Ala638Thr)
|
rs587778236 |
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.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.2023A>G (p.Met675Val)
|
rs1555716140 |
NM_001005360.2(DNM2):c.2041C>A (p.His681Asn)
|
rs1437296623 |
NM_001005360.2(DNM2):c.2105C>T (p.Ser702Leu)
|
rs745382488 |
NM_001005360.2(DNM2):c.2144A>G (p.Gln715Arg)
|
rs374041367 |
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.2231T>C (p.Val744Ala)
|
rs777609224 |
NM_001005360.2(DNM2):c.2233T>A (p.Ser745Thr)
|
rs1568324267 |
NM_001005360.2(DNM2):c.2264C>A (p.Thr755Asn)
|
rs754691182 |
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+4C>T
|
rs200408852 |
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.2356G>T (p.Gly786Cys)
|
rs1555717200 |
NM_001005360.2(DNM2):c.2372C>A (p.Pro791His)
|
rs780738840 |
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.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.2497T>C (p.Ser833Pro)
|
rs1253864930 |
NM_001005360.2(DNM2):c.2531C>T (p.Pro844Leu)
|
rs1398139585 |
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.2576_2581del (p.Thr859_Ile860del)
|
rs876661117 |
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.31C>T (p.Pro11Ser)
|
rs1014814501 |
NM_001005360.2(DNM2):c.345C>G (p.Ile115Met)
|
rs753176358 |
NM_001005360.2(DNM2):c.439G>A (p.Asp147Asn)
|
rs370086632 |
NM_001005360.2(DNM2):c.481C>A (p.Leu161Met)
|
rs1060503547 |
NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln)
|
rs200002469 |
NM_001005360.2(DNM2):c.535A>G (p.Met179Val)
|
rs748887276 |
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.645C>A (p.Asp215Glu)
|
rs148900299 |
NM_001005360.2(DNM2):c.655G>A (p.Val219Ile)
|
rs111845811 |
NM_001005360.2(DNM2):c.689-3C>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.758C>T (p.Ala253Val)
|
rs752195631 |
NM_001005360.2(DNM2):c.778C>G (p.Leu260Val)
|
rs145607989 |
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.821C>T (p.Thr274Met)
|
rs746387165 |
NM_001005360.2(DNM2):c.83A>T (p.His28Leu)
|
rs774962668 |
NM_001005360.2(DNM2):c.850-7C>G
|
rs778548382 |
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.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.934G>A (p.Glu312Lys)
|
rs370636702 |
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn)
|
rs150613209 |
NM_001005360.2(DNM2):c.992+4T>C
|
rs1225723240 |
NM_001005361.3(DNM2):c.*185A>C
|
|
NM_001005361.3(DNM2):c.*214C>T
|
|
NM_001005361.3(DNM2):c.*373G>A
|
|
NM_001005361.3(DNM2):c.*379C>T
|
|
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.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.1196+626G>A
|
|
NM_001005361.3(DNM2):c.1196+640G>A
|
|
NM_001005361.3(DNM2):c.1196+707G>C
|
|
NM_001005361.3(DNM2):c.1351C>T (p.Arg451Trp)
|
|
NM_001005361.3(DNM2):c.1352G>T (p.Arg451Leu)
|
|
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.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.160C>G (p.Arg54Gly)
|
|
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.1782-6C>T
|
rs963604980 |
NM_001005361.3(DNM2):c.1782-7C>G
|
|
NM_001005361.3(DNM2):c.1907A>G (p.Asp636Gly)
|
|
NM_001005361.3(DNM2):c.1962G>A (p.Glu654=)
|
|
NM_001005361.3(DNM2):c.1966A>T (p.Ile656Phe)
|
|
NM_001005361.3(DNM2):c.1990G>A (p.Val664Met)
|
|
NM_001005361.3(DNM2):c.2106G>A (p.Ser702=)
|
|
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.2237C>T (p.Thr746Met)
|
rs202136528 |
NM_001005361.3(DNM2):c.2245C>T (p.Pro749Ser)
|
|
NM_001005361.3(DNM2):c.2249C>T (p.Pro750Leu)
|
|
NM_001005361.3(DNM2):c.2291+5G>A
|
|
NM_001005361.3(DNM2):c.2292-7C>G
|
|
NM_001005361.3(DNM2):c.2297C>T (p.Thr766Ile)
|
|
NM_001005361.3(DNM2):c.2311C>A (p.Pro771Thr)
|
|
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.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.2543+5G>C
|
|
NM_001005361.3(DNM2):c.2544-3C>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.376T>G (p.Ser126Ala)
|
|
NM_001005361.3(DNM2):c.414G>A (p.Pro138=)
|
|
NM_001005361.3(DNM2):c.448C>T (p.Pro150Ser)
|
|
NM_001005361.3(DNM2):c.496C>T (p.Arg166Trp)
|
|
NM_001005361.3(DNM2):c.533A>G (p.Asn178Ser)
|
|
NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu)
|
|
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.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.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_004945.3(DNM2):c.1597G>T (p.Gly533Cys)
|
rs121909093 |
NM_004945.3(DNM2):c.1652_1659+1del
|
rs1568314339 |
NM_004945.3(DNM2):c.1663_1665del (p.Lys555del)
|
rs1599620398 |
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.2088_2090CTC[1] (p.Ser698del)
|
rs1324559612 |
NM_004945.3(DNM2):c.2561_2563CCA[1] (p.Thr855del)
|
rs1599643472 |