NM_004408.4(DNM1):c.2582C>A (p.Pro861His)
|
rs187315526
|
0.00022
|
NM_004408.4(DNM1):c.849+6C>T
|
rs527412689
|
0.00013
|
NM_004408.4(DNM1):c.796C>T (p.Arg266Cys)
|
rs138053929
|
0.00006
|
NM_004408.4(DNM1):c.1390A>G (p.Ile464Val)
|
rs992608425
|
0.00003
|
NM_004408.4(DNM1):c.812G>A (p.Arg271His)
|
rs201656136
|
0.00003
|
NM_004408.4(DNM1):c.774C>G (p.Phe258Leu)
|
rs146211149
|
0.00002
|
NM_004408.4(DNM1):c.*6T>A
|
rs766139015
|
0.00001
|
NM_004408.4(DNM1):c.1186C>T (p.His396Tyr)
|
rs1835103565
|
0.00001
|
NM_004408.4(DNM1):c.1199C>T (p.Thr400Met)
|
rs750618124
|
0.00001
|
NM_004408.4(DNM1):c.1268C>T (p.Pro423Leu)
|
rs1373361613
|
0.00001
|
NM_004408.4(DNM1):c.1358G>A (p.Arg453Gln)
|
rs750296552
|
0.00001
|
NM_004408.4(DNM1):c.1359G>A (p.Arg453=)
|
rs968662562
|
0.00001
|
NM_004408.4(DNM1):c.1399C>T (p.Arg467Cys)
|
rs769485700
|
0.00001
|
NM_004408.4(DNM1):c.1408C>T (p.Arg470Cys)
|
rs762553379
|
0.00001
|
NM_004408.4(DNM1):c.1545+6T>C
|
rs368249222
|
0.00001
|
NM_004408.4(DNM1):c.1558-3C>T
|
rs546517702
|
0.00001
|
NM_004408.4(DNM1):c.1891G>C (p.Gly631Arg)
|
rs1333859821
|
0.00001
|
NM_004408.4(DNM1):c.2076+4C>T
|
rs374379668
|
0.00001
|
NM_004408.4(DNM1):c.2173C>T (p.Arg725Cys)
|
rs1414107946
|
0.00001
|
NM_004408.4(DNM1):c.2178C>A (p.Asp726Glu)
|
rs745835138
|
0.00001
|
NM_004408.4(DNM1):c.2527G>A (p.Val843Ile)
|
rs1006999214
|
0.00001
|
NM_004408.4(DNM1):c.2560C>T (p.Arg854Cys)
|
rs757501966
|
0.00001
|
NM_004408.4(DNM1):c.2561G>A (p.Arg854His)
|
rs781345149
|
0.00001
|
NM_004408.4(DNM1):c.595C>T (p.Arg199Cys)
|
rs1485891906
|
0.00001
|
NM_004408.4(DNM1):c.650G>A (p.Arg217His)
|
rs753953686
|
0.00001
|
NM_004408.4(DNM1):c.695T>C (p.Ile232Thr)
|
rs766504829
|
0.00001
|
NM_004408.4(DNM1):c.775T>C (p.Phe259Leu)
|
rs1431736054
|
0.00001
|
NM_004408.4(DNM1):c.788C>T (p.Pro263Leu)
|
rs930963855
|
0.00001
|
NM_004408.4(DNM1):c.827A>G (p.Tyr276Cys)
|
rs752917058
|
0.00001
|
NM_004408.4(DNM1):c.890G>A (p.Arg297Gln)
|
rs1321080189
|
0.00001
|
NM_004408.4(DNM1):c.946A>G (p.Asn316Asp)
|
rs1214581005
|
0.00001
|
NC_000009.12:g.(?_128234001)_(128234127_?)del
|
|
|
NM_004408.4(DNM1):c.1009G>A (p.Ala337Thr)
|
|
|
NM_004408.4(DNM1):c.1012G>A (p.Val338Ile)
|
|
|
NM_004408.4(DNM1):c.1013T>C (p.Val338Ala)
|
|
|
NM_004408.4(DNM1):c.1021G>A (p.Glu341Lys)
|
|
|
NM_004408.4(DNM1):c.1025del (p.Lys342fs)
|
|
|
NM_004408.4(DNM1):c.1027C>T (p.Arg343Cys)
|
|
|
NM_004408.4(DNM1):c.1028G>T (p.Arg343Leu)
|
|
|
NM_004408.4(DNM1):c.1042G>A (p.Gly348Arg)
|
|
|
NM_004408.4(DNM1):c.1054G>A (p.Asp352Asn)
|
rs148695604
|
|
NM_004408.4(DNM1):c.1061A>G (p.Tyr354Cys)
|
|
|
NM_004408.4(DNM1):c.1082G>A (p.Arg361His)
|
rs1172228858
|
|
NM_004408.4(DNM1):c.1100A>C (p.His367Pro)
|
|
|
NM_004408.4(DNM1):c.1102G>A (p.Glu368Lys)
|
rs1835087040
|
|
NM_004408.4(DNM1):c.1116C>G (p.Phe372Leu)
|
rs367584321
|
|
NM_004408.4(DNM1):c.1131G>A (p.Met377Ile)
|
rs1247269957
|
|
NM_004408.4(DNM1):c.1138G>T (p.Asp380Tyr)
|
rs1835101754
|
|
NM_004408.4(DNM1):c.1153C>T (p.Arg385Ter)
|
rs1835102166
|
|
NM_004408.4(DNM1):c.1154G>A (p.Arg385Gln)
|
rs1428107171
|
|
NM_004408.4(DNM1):c.1180A>C (p.Asn394His)
|
rs1835103161
|
|
NM_004408.4(DNM1):c.1196+5G>A
|
rs1835103921
|
|
NM_004408.4(DNM1):c.1197-10G>A
|
|
|
NM_004408.4(DNM1):c.1197-1G>T
|
|
|
NM_004408.4(DNM1):c.1197-7C>A
|
rs41306488
|
|
NM_004408.4(DNM1):c.1246C>G (p.Gln416Glu)
|
rs866836375
|
|
NM_004408.4(DNM1):c.1282G>A (p.Val428Met)
|
rs868805405
|
|
NM_004408.4(DNM1):c.1283T>G (p.Val428Gly)
|
|
|
NM_004408.4(DNM1):c.1324T>C (p.Cys442Arg)
|
|
|
NM_004408.4(DNM1):c.1335+1785G>C
|
|
|
NM_004408.4(DNM1):c.1336-7T>G
|
rs550764968
|
|
NM_004408.4(DNM1):c.1345T>C (p.Tyr449His)
|
rs1835857400
|
|
NM_004408.4(DNM1):c.1347C>A (p.Tyr449Ter)
|
rs2131226916
|
|
NM_004408.4(DNM1):c.1351C>T (p.Arg451Trp)
|
|
|
NM_004408.4(DNM1):c.1352G>A (p.Arg451Gln)
|
|
|
NM_004408.4(DNM1):c.1357C>T (p.Arg453Trp)
|
rs368427334
|
|
NM_004408.4(DNM1):c.1358G>T (p.Arg453Leu)
|
rs750296552
|
|
NM_004408.4(DNM1):c.1371G>T (p.Glu457Asp)
|
rs1835858946
|
|
NM_004408.4(DNM1):c.1372C>T (p.Arg458Cys)
|
|
|
NM_004408.4(DNM1):c.1373G>A (p.Arg458His)
|
|
|
NM_004408.4(DNM1):c.1384A>G (p.Thr462Ala)
|
|
|
NM_004408.4(DNM1):c.1393C>T (p.Arg465Trp)
|
rs772264918
|
|
NM_004408.4(DNM1):c.1404G>C (p.Glu468Asp)
|
|
|
NM_004408.4(DNM1):c.1409G>C (p.Arg470Pro)
|
|
|
NM_004408.4(DNM1):c.1422+5del
|
|
|
NM_004408.4(DNM1):c.1424T>C (p.Val475Ala)
|
|
|
NM_004408.4(DNM1):c.1429C>A (p.Leu477Ile)
|
|
|
NM_004408.4(DNM1):c.1468C>G (p.His490Asp)
|
|
|
NM_004408.4(DNM1):c.1493+20A>G
|
|
|
NM_004408.4(DNM1):c.1493+3G>C
|
|
|
NM_004408.4(DNM1):c.1493+4A>T
|
|
|
NM_004408.4(DNM1):c.1493+5G>A
|
rs752004261
|
|
NM_004408.4(DNM1):c.1493+7G>A
|
|
|
NM_004408.4(DNM1):c.1518G>T (p.Met506Ile)
|
|
|
NM_004408.4(DNM1):c.1523AGA[2] (p.Lys510del)
|
rs763633863
|
|
NM_004408.4(DNM1):c.1535C>T (p.Ser512Leu)
|
rs867314420
|
|
NM_004408.4(DNM1):c.1545G>A (p.Gln515=)
|
|
|
NM_004408.4(DNM1):c.1557G>C (p.Leu519=)
|
|
|
NM_004408.4(DNM1):c.1564C>T (p.Arg522Cys)
|
|
|
NM_004408.4(DNM1):c.1565G>C (p.Arg522Pro)
|
|
|
NM_004408.4(DNM1):c.1571G>T (p.Gly524Val)
|
|
|
NM_004408.4(DNM1):c.1587T>A (p.Asn529Lys)
|
|
|
NM_004408.4(DNM1):c.1594G>C (p.Gly532Arg)
|
|
|
NM_004408.4(DNM1):c.1610G>A (p.Gly537Asp)
|
rs1554781552
|
|
NM_004408.4(DNM1):c.1631T>C (p.Val544Ala)
|
|
|
NM_004408.4(DNM1):c.1646A>G (p.Asn549Ser)
|
rs2131262599
|
|
NM_004408.4(DNM1):c.1678G>C (p.Glu560Gln)
|
|
|
NM_004408.4(DNM1):c.1687T>C (p.Tyr563His)
|
|
|
NM_004408.4(DNM1):c.1690A>T (p.Met564Leu)
|
rs2131283540
|
|
NM_004408.4(DNM1):c.1718G>A (p.Arg573Gln)
|
|
|
NM_004408.4(DNM1):c.1723G>A (p.Val575Met)
|
rs748647924
|
|
NM_004408.4(DNM1):c.1769A>G (p.Asn590Ser)
|
|
|
NM_004408.4(DNM1):c.1781+4C>A
|
|
|
NM_004408.4(DNM1):c.1781+5C>T
|
rs1836821115
|
|
NM_004408.4(DNM1):c.1782-3C>T
|
|
|
NM_004408.4(DNM1):c.1786G>A (p.Val596Ile)
|
rs1588449769
|
|
NM_004408.4(DNM1):c.1801C>T (p.Arg601Trp)
|
|
|
NM_004408.4(DNM1):c.1810G>A (p.Glu604Lys)
|
rs1588449811
|
|
NM_004408.4(DNM1):c.1867G>T (p.Ala623Ser)
|
|
|
NM_004408.4(DNM1):c.1867_1873del (p.Ala623fs)
|
rs2131287870
|
|
NM_004408.4(DNM1):c.1872C>T (p.Gly624=)
|
rs1367619284
|
|
NM_004408.4(DNM1):c.1885C>T (p.Arg629Cys)
|
|
|
NM_004408.4(DNM1):c.1888G>A (p.Val630Ile)
|
rs1836896799
|
|
NM_004408.4(DNM1):c.1905A>G (p.Lys635=)
|
|
|
NM_004408.4(DNM1):c.1906-3C>T
|
|
|
NM_004408.4(DNM1):c.1918G>C (p.Glu640Gln)
|
|
|
NM_004408.4(DNM1):c.1918GAG[1] (p.Glu641del)
|
rs748362979
|
|
NM_004408.4(DNM1):c.1928G>A (p.Gly643Asp)
|
rs763245663
|
|
NM_004408.4(DNM1):c.1939T>C (p.Phe647Leu)
|
|
|
NM_004408.4(DNM1):c.1973A>T (p.Gln658Leu)
|
|
|
NM_004408.4(DNM1):c.1987C>T (p.Arg663Trp)
|
|
|
NM_004408.4(DNM1):c.2008A>C (p.Met670Leu)
|
|
|
NM_004408.4(DNM1):c.2009T>C (p.Met670Thr)
|
rs1437208936
|
|
NM_004408.4(DNM1):c.2015T>C (p.Ile672Thr)
|
|
|
NM_004408.4(DNM1):c.2028C>G (p.Thr676=)
|
rs1339784958
|
|
NM_004408.4(DNM1):c.2029G>C (p.Val677Leu)
|
|
|
NM_004408.4(DNM1):c.2043G>A (p.Met681Ile)
|
|
|
NM_004408.4(DNM1):c.2057T>C (p.Met686Thr)
|
|
|
NM_004408.4(DNM1):c.2076+5G>A
|
rs1829321597
|
|
NM_004408.4(DNM1):c.2121G>T (p.Ser707=)
|
|
|
NM_004408.4(DNM1):c.2128G>C (p.Asp710His)
|
rs2131297334
|
|
NM_004408.4(DNM1):c.2144T>C (p.Met715Thr)
|
|
|
NM_004408.4(DNM1):c.2154_2166delinsCAT (p.Ala719fs)
|
|
|
NM_004408.4(DNM1):c.2155G>T (p.Ala719Ser)
|
|
|
NM_004408.4(DNM1):c.2159A>G (p.Glu720Gly)
|
rs1588457823
|
|
NM_004408.4(DNM1):c.2164G>T (p.Ala722Ser)
|
|
|
NM_004408.4(DNM1):c.2170C>T (p.Arg724Trp)
|
|
|
NM_004408.4(DNM1):c.2171G>A (p.Arg724Gln)
|
rs1829428293
|
|
NM_004408.4(DNM1):c.2197_2199dup (p.His733_Ala734insHis)
|
|
|
NM_004408.4(DNM1):c.2198A>G (p.His733Arg)
|
|
|
NM_004408.4(DNM1):c.2240C>A (p.Thr747Lys)
|
rs1829432262
|
|
NM_004408.4(DNM1):c.2240C>T (p.Thr747Met)
|
|
|
NM_004408.4(DNM1):c.2251A>C (p.Ser751Arg)
|
|
|
NM_004408.4(DNM1):c.2253C>G (p.Ser751Arg)
|
rs754280238
|
|
NM_004408.4(DNM1):c.2395G>A (p.Ala799Thr)
|
|
|
NM_004408.4(DNM1):c.2510A>C (p.Asn837Thr)
|
|
|
NM_004408.4(DNM1):c.2510A>G (p.Asn837Ser)
|
|
|
NM_004408.4(DNM1):c.2510A>T (p.Asn837Ile)
|
|
|
NM_004408.4(DNM1):c.2515G>A (p.Ala839Thr)
|
|
|
NM_004408.4(DNM1):c.2531C>G (p.Pro844Arg)
|
rs1564355393
|
|
NM_004408.4(DNM1):c.2534+1dup
|
|
|
NM_004408.4(DNM1):c.2534+2T>G
|
|
|
NM_004408.4(DNM1):c.2534G>A (p.Ser845Asn)
|
rs1829479381
|
|
NM_004408.4(DNM1):c.2535-1G>A
|
|
|
NM_004408.4(DNM1):c.2535-2A>G
|
rs1564358627
|
|
NM_004408.4(DNM1):c.2535-613C>T
|
rs1385389663
|
|
NM_004408.4(DNM1):c.2537G>C (p.Arg846Pro)
|
rs758567328
|
|
NM_004408.4(DNM1):c.2537G>T (p.Arg846Leu)
|
|
|
NM_004408.4(DNM1):c.2540C>A (p.Ser847Ter)
|
|
|
NM_004408.4(DNM1):c.2542G>A (p.Gly848Ser)
|
|
|
NM_004408.4(DNM1):c.2542_2559dup (p.Gly848_Ser853dup)
|
rs1564358652
|
|
NM_004408.4(DNM1):c.2566G>A (p.Glu856Lys)
|
|
|
NM_004408.4(DNM1):c.2576G>A (p.Arg859Lys)
|
|
|
NM_004408.4(DNM1):c.2581C>G (p.Pro861Ala)
|
|
|
NM_004408.4(DNM1):c.2582C>T (p.Pro861Leu)
|
rs187315526
|
|
NM_004408.4(DNM1):c.2583del (p.Phe862fs)
|
|
|
NM_004408.4(DNM1):c.2584T>G (p.Phe862Val)
|
rs2131314418
|
|
NM_004408.4(DNM1):c.603C>G (p.Ile201Met)
|
|
|
NM_004408.4(DNM1):c.604G>A (p.Gly202Arg)
|
rs1057524561
|
|
NM_004408.4(DNM1):c.604G>T (p.Gly202Trp)
|
|
|
NM_004408.4(DNM1):c.643_646delinsA (p.Asp215_Ala216delinsThr)
|
rs1588355906
|
|
NM_004408.4(DNM1):c.646G>A (p.Ala216Thr)
|
|
|
NM_004408.4(DNM1):c.649C>T (p.Arg217Cys)
|
|
|
NM_004408.4(DNM1):c.654T>G (p.Asp218Glu)
|
|
|
NM_004408.4(DNM1):c.676C>T (p.Pro226Ser)
|
|
|
NM_004408.4(DNM1):c.679dup (p.Leu227fs)
|
|
|
NM_004408.4(DNM1):c.680T>G (p.Leu227Arg)
|
|
|
NM_004408.4(DNM1):c.682C>T (p.Arg228Cys)
|
rs1444380018
|
|
NM_004408.4(DNM1):c.683G>A (p.Arg228His)
|
rs866946278
|
|
NM_004408.4(DNM1):c.685A>G (p.Arg229Gly)
|
rs1834851998
|
|
NM_004408.4(DNM1):c.689G>A (p.Gly230Asp)
|
rs1834860828
|
|
NM_004408.4(DNM1):c.694A>G (p.Ile232Val)
|
|
|
NM_004408.4(DNM1):c.701T>G (p.Val234Gly)
|
|
|
NM_004408.4(DNM1):c.703G>A (p.Val235Met)
|
rs2131157918
|
|
NM_004408.4(DNM1):c.718_720del (p.Lys240del)
|
|
|
NM_004408.4(DNM1):c.724A>G (p.Ile242Val)
|
|
|
NM_004408.4(DNM1):c.739G>A (p.Asp247Asn)
|
|
|
NM_004408.4(DNM1):c.745A>G (p.Thr249Ala)
|
|
|
NM_004408.4(DNM1):c.757G>T (p.Ala253Ser)
|
rs752005713
|
|
NM_004408.4(DNM1):c.767G>A (p.Arg256Gln)
|
|
|
NM_004408.4(DNM1):c.786T>A (p.His262Gln)
|
rs1376656660
|
|
NM_004408.4(DNM1):c.796C>A (p.Arg266Ser)
|
rs138053929
|
|
NM_004408.4(DNM1):c.811C>T (p.Arg271Cys)
|
rs1834865373
|
|
NM_004408.4(DNM1):c.821C>T (p.Thr274Met)
|
rs1284660372
|
|
NM_004408.4(DNM1):c.845A>G (p.Asn282Ser)
|
|
|
NM_004408.4(DNM1):c.849+3A>G
|
|
|
NM_004408.4(DNM1):c.889C>T (p.Arg297Trp)
|
|
|
NM_004408.4(DNM1):c.905G>A (p.Ser302Asn)
|
rs1564332436
|
|
NM_004408.4(DNM1):c.919A>G (p.Ile307Val)
|
|
|
NM_004408.4(DNM1):c.925_927del (p.Lys309del)
|
|
|
NM_004408.4(DNM1):c.926A>G (p.Lys309Arg)
|
|
|
NM_004408.4(DNM1):c.929A>G (p.Glu310Gly)
|
rs1835069996
|
|
NM_004408.4(DNM1):c.933G>A (p.Val311=)
|
|
|
NM_004408.4(DNM1):c.944A>G (p.Lys315Arg)
|
rs1564332523
|
|
NM_004408.4(DNM1):c.952C>T (p.Arg318Cys)
|
rs892194903
|
|
NM_004408.4(DNM1):c.956C>T (p.Pro319Leu)
|
|
|
NM_004408.4(DNM1):c.958G>C (p.Asp320His)
|
rs1588368840
|
|
NM_004408.4(DNM1):c.963C>A (p.Asp321Glu)
|
|
|
NM_004408.4(DNM1):c.967G>T (p.Ala323Ser)
|
|
|
NM_004408.4(DNM1):c.970C>T (p.Arg324Cys)
|
|
|
NM_004408.4(DNM1):c.985C>G (p.Leu329Val)
|
rs868772525
|
|
NM_004408.4(DNM1):c.992+3G>A
|
|
|
NM_004408.4(DNM1):c.993-13_993-11del
|
|
|
NM_004408.4(DNM1):c.993-6C>T
|
rs1196657001
|
|
NM_004408.4(DNM1):c.996G>A (p.Met332Ile)
|
|
|