NC_000002.11:g.(?_71708003)_(71709110_?)del


NC_000002.11:g.(?_71795071)_(71797474_?)del


NC_000002.11:g.(?_71906177)_(71906375_?)del


NM_001130987.1(DYSF):c.1696dup (p.Glu566Glyfs)

rs398123772 
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs)

rs756118312 
NM_001130987.2(DYSF):c.1033+1G>A

rs201869739 
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)

rs398123764 
NM_001130987.2(DYSF):c.1149+1G>A

rs398123763 
NM_001130987.2(DYSF):c.1149+5G>A

rs1023002894 
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)

rs758180890 
NM_001130987.2(DYSF):c.1260del (p.Glu421fs)

rs1559079887 
NM_001130987.2(DYSF):c.1263_1276+1dup

rs863225019 
NM_001130987.2(DYSF):c.1273C>T (p.Gln425Ter)

rs1131691651 
NM_001130987.2(DYSF):c.1274_1276+4dup

rs1553530017 
NM_001130987.2(DYSF):c.1276+5G>A

rs766433603 
NM_001130987.2(DYSF):c.1350del (p.Phe451fs)

rs766936914 
NM_001130987.2(DYSF):c.1380+2T>C

rs398123765 
NM_001130987.2(DYSF):c.13812A>G

rs786200897 
NM_001130987.2(DYSF):c.1449+1G>A

rs1553535902 
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)

rs202044973 
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)

rs398123767 
NM_001130987.2(DYSF):c.1493G>A (p.Trp498Ter)

rs1559100639 
NM_001130987.2(DYSF):c.14941G>A

rs398123768 
NM_001130987.2(DYSF):c.14942A>G

rs398123769 
NM_001130987.2(DYSF):c.1560del (p.Gly521fs)

rs1456182703 
NM_001130987.2(DYSF):c.1562del (p.Gly521fs)

rs1559109621 
NM_001130987.2(DYSF):c.1576G>T (p.Val526Leu)

rs886044537 
NM_001130987.2(DYSF):c.15771692G>A

rs398123770 
NM_001130987.2(DYSF):c.15772A>G

rs1553542142 
NM_001130987.2(DYSF):c.1589_1592dup (p.Phe532fs)

rs1559136308 
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)

rs886042641 
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)

rs121908962 
NM_001130987.2(DYSF):c.167dup (p.Ile58fs)

rs863225020 
NM_001130987.2(DYSF):c.1692+2T>A

rs398123771 
NM_001130987.2(DYSF):c.16936T>A

rs886039573 
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)

rs377735262 
NM_001130987.2(DYSF):c.1766_1767insTTCT (p.Lys589fs)

rs1553542773 
NM_001130987.2(DYSF):c.1812C>G (p.Tyr604Ter)

rs1553543506 
NM_001130987.2(DYSF):c.1834_1835del (p.Leu612fs)

rs1559141367 
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter)

rs121908953 
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)

rs746873768 
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg)

rs201049092 
NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr)

rs121908960 
NM_001130987.2(DYSF):c.19852del

rs774047700 
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp)

rs121908957 
NM_001130987.2(DYSF):c.22172A>G

rs747289205 
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter)

rs398123773 
NM_001130987.2(DYSF):c.2378G>A (p.Trp793Ter)

rs1559162681 
NM_001130987.2(DYSF):c.2409+1G>A

rs151317754 
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)

rs121908956 
NM_001130987.2(DYSF):c.2426dup (p.Asp810fs)

rs752479889 
NM_001130987.2(DYSF):c.2524del (p.Cys842fs)

rs1553551006 
NM_001130987.2(DYSF):c.2548C>T (p.Gln850Ter)

rs199543257 
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)

rs794727636 
NM_001130987.2(DYSF):c.26982A>G

rs1420930684 
NM_001130987.2(DYSF):c.2760dup (p.Lys921fs)

rs1559177278 
NM_001130987.2(DYSF):c.2864+1G>A

rs199954546 
NM_001130987.2(DYSF):c.28652A>C

rs886043964 
NM_001130987.2(DYSF):c.2923C>T (p.Gln975Ter)

rs398123776 
NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs)

rs398123777 
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)

rs202218890 
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)

rs750028300 
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)

rs28937581 
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)

rs756328339 
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)

rs369607332 
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)

rs121908958 
NM_001130987.2(DYSF):c.3270_3271CT[2] (p.Leu1092fs)


NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)

rs746315830 
NM_001130987.2(DYSF):c.3361A>T (p.Lys1121Ter)

rs1558513494 
NM_001130987.2(DYSF):c.3379_3380GT[1] (p.Phe1128fs)

rs398123780 
NM_001130987.2(DYSF):c.34032A>G

rs370874727 
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs)

rs748542672 
NM_001130987.2(DYSF):c.342del (p.Ala116fs)

rs886042379 
NM_001130987.2(DYSF):c.349733A>G

rs786205083 
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter)

rs758944159 
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)

rs398123781 
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)

rs886042091 
NM_001130987.2(DYSF):c.3564_3565CT[1] (p.Ser1189fs)

rs886042827 
NM_001130987.2(DYSF):c.356del (p.Val119fs)

rs398123782 
NM_001130987.2(DYSF):c.361C>T (p.Gln121Ter)

rs1423123313 
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter)

rs1380642629 
NM_001130987.2(DYSF):c.3695del (p.Pro1232fs)

rs398123783 
NM_001130987.2(DYSF):c.3741C>A (p.Tyr1247Ter)


NM_001130987.2(DYSF):c.3786_3787del (p.Ile1262fs)

rs1558583697 
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)

rs763674597 
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)

rs727503911 
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)

rs121908954 
NM_001130987.2(DYSF):c.396_397del (p.Leu133fs)

rs398123784 
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter)

rs778092738 
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)

rs199870606 
NM_001130987.2(DYSF):c.410del (p.Pro137fs)

rs886043342 
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter)


NM_001130987.2(DYSF):c.4221+1G>C

rs1474151297 
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)

rs398123786 
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)

rs398123787 
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)

rs886043145 
NM_001130987.2(DYSF):c.4418_4419dup (p.Val1474fs)


NM_001130987.2(DYSF):c.4444G>T (p.Glu1482Ter)


NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)

rs886044411 
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)

rs766016391 
NM_001130987.2(DYSF):c.4590C>A (p.Cys1530Ter)

rs778185705 
NM_001130987.2(DYSF):c.4768del (p.Ile1590fs)

rs1179051248 
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs)

rs778065845 
NM_001130987.2(DYSF):c.4843C>T (p.Gln1615Ter)

rs1163488527 
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)

rs398123789 
NM_001130987.2(DYSF):c.4909A>T (p.Lys1637Ter)

rs1558750788 
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs)

rs1057516051 
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs)

rs786200896 
NM_001130987.2(DYSF):c.5003+1249G>T

rs886042110 
NM_001130987.2(DYSF):c.5011G>T (p.Glu1671Ter)

rs398123790 
NM_001130987.2(DYSF):c.5086G>T (p.Glu1696Ter)


NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)

rs1057519132 
NM_001130987.2(DYSF):c.5174+5G>A

rs745891180 
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)

rs863225021 
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter)

rs886044422 
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs)

rs1558771348 
NM_001130987.2(DYSF):c.5317+1G>A

rs773386253 
NM_001130987.2(DYSF):c.5318A>G (p.Glu1773Gly)

rs121908961 
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter)

rs727503912 
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)

rs746243052 
NM_001130987.2(DYSF):c.5437dup (p.Leu1813fs)

rs769873428 
NM_001130987.2(DYSF):c.54582A>C

rs398123792 
NM_001130987.2(DYSF):c.5467C>T (p.Gln1823Ter)

rs1553415109 
NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs)

rs1558783870 
NM_001130987.2(DYSF):c.5546+1G>T

rs398123793 
NM_001130987.2(DYSF):c.5546+2T>A

rs1553415233 
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)

rs786205084 
NM_001130987.2(DYSF):c.5614G>T (p.Glu1872Ter)

rs201592500 
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)

rs398123794 
NM_001130987.2(DYSF):c.5642+1G>A

rs727503915 
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp)

rs1131692158 
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter)

rs886043966 
NM_001130987.2(DYSF):c.5711del (p.Gly1904fs)

rs786205081 
NM_001130987.2(DYSF):c.5724G>A (p.Trp1908Ter)

rs1558787893 
NM_001130987.2(DYSF):c.5761C>T (p.Gln1921Ter)

rs398123795 
NM_001130987.2(DYSF):c.57857G>A

rs753861836 
NM_001130987.2(DYSF):c.5813_5814AG[1] (p.Ser1939fs)

rs398123796 
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)

rs121908959 
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)

rs398123797 
NM_001130987.2(DYSF):c.5976_5977inv (p.Glu1993Ter)


NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)

rs1064794020 
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter)

rs1553420848 
NM_001130987.2(DYSF):c.6063+1G>A

rs398123798 
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)

rs398123799 
NM_001130987.2(DYSF):c.6099_6106dup (p.His2036fs)

rs886042318 
NM_001130987.2(DYSF):c.6141_6151del (p.Pro2048_Asn2049insTer)

rs1558817973 
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)

rs1553521017 
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)

rs121908955 
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter)

rs1553422723 
NM_001130987.2(DYSF):c.682dup (p.His228fs)

rs886042680 
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)

rs373585652 
NM_001130987.2(DYSF):c.730del (p.Leu244fs)

rs1553521119 
NM_001130987.2(DYSF):c.759+1G>C

rs398123800 
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)

rs794727851 
NM_001130987.2(DYSF):c.890_891CT[1] (p.Leu298fs)

rs1553522104 
NM_001130987.2(DYSF):c.895_896del (p.Phe299fs)


NM_001130987.2(DYSF):c.922del (p.Glu308fs)

rs1553522133 
NM_001130987.2(DYSF):c.951+1del

rs786200898 
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)

rs121908963 
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)

rs121908963 
NM_003494.3(DYSF):c.1642delG (p.Glu548Lysfs)

rs398123772 
NM_003494.3(DYSF):c.25121495_3148del


NM_003494.3(DYSF):c.25121496_3149del


NM_003494.3(DYSF):c.2643+1G>A

rs140108514 
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)

rs727503909 
NM_003494.3(DYSF):c.3113G>A

rs150877497 
NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs)

rs1553370437 
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs)

rs886042504 
NM_003494.3(DYSF):c.3516_3517delTT

rs766341386 
NM_003494.4(DYSF):c.1071del (p.Ser358fs)

rs886044355 
NM_003494.4(DYSF):c.1171_1180+4dup

rs1553529974 
NM_003494.4(DYSF):c.1276G>A (p.Gly426Arg)

rs886042093 
NM_003494.4(DYSF):c.13543_13542del

rs886043328 
NM_003494.4(DYSF):c.1375dup (p.Met459fs)

rs1236367931 
NM_003494.4(DYSF):c.1480+1G>A

rs886044258 
NM_003494.4(DYSF):c.1517C>G (p.Ser506Ter)

rs886044410 
NM_003494.4(DYSF):c.15231G>A

rs189923208 
NM_003494.4(DYSF):c.1708C>T (p.Gln570Ter)

rs886042633 
NM_003494.4(DYSF):c.1868del (p.Lys623fs)


NM_003494.4(DYSF):c.1956G>A (p.Trp652Ter)

rs794727343 
NM_003494.4(DYSF):c.2016del (p.Ile672fs)


NM_003494.4(DYSF):c.2034del (p.Ile681fs)

rs886044390 
NM_003494.4(DYSF):c.21631G>T

rs886044379 
NM_003494.4(DYSF):c.2248C>T (p.Gln750Ter)

rs1027145211 
NM_003494.4(DYSF):c.2290G>T (p.Glu764Ter)

rs886043901 
NM_003494.4(DYSF):c.2352_2355+1del

rs398123774 
NM_003494.4(DYSF):c.2496_2499del (p.Thr833fs)

rs755849745 
NM_003494.4(DYSF):c.2772G>A (p.Trp924Ter)

rs1553553888 
NM_003494.4(DYSF):c.2810+2T>A

rs1553553943 
NM_003494.4(DYSF):c.2894G>A (p.Trp965Ter)

rs1268594965 
NM_003494.4(DYSF):c.3031+2T>C

rs886042951 
NM_003494.4(DYSF):c.3230G>A (p.Trp1077Ter)

rs794727534 
NM_003494.4(DYSF):c.3429del (p.Cys1144fs)

rs886042632 
NM_003494.4(DYSF):c.3517dup (p.Ser1173fs)

rs766341386 
NM_003494.4(DYSF):c.37032A>G

rs886043149 
NM_003494.4(DYSF):c.3770G>A (p.Trp1257Ter)

rs1553376538 
NM_003494.4(DYSF):c.3805dup (p.Glu1269fs)


NM_003494.4(DYSF):c.3887C>G (p.Ser1296Ter)

rs1553377740 
NM_003494.4(DYSF):c.4081T>C (p.Cys1361Arg)

rs776472879 
NM_003494.4(DYSF):c.4090C>T (p.Gln1364Ter)

rs886042095 
NM_003494.4(DYSF):c.4228C>T (p.Gln1410Ter)

rs769721856 
NM_003494.4(DYSF):c.4263dup (p.Ile1422fs)

rs1553383144 
NM_003494.4(DYSF):c.4459G>T (p.Glu1487Ter)

rs886042635 
NM_003494.4(DYSF):c.4497del (p.Phe1499fs)

rs886042578 
NM_003494.4(DYSF):c.4794+1G>T

rs777216777 
NM_003494.4(DYSF):c.48871G>A

rs886043170 
NM_003494.4(DYSF):c.5039_5057+4dup

rs786205082 
NM_003494.4(DYSF):c.5057+1G>A

rs886042581 
NM_003494.4(DYSF):c.53411G>A

rs886042879 
NM_003494.4(DYSF):c.5646del (p.Val1883fs)

rs1553416197 
NM_003494.4(DYSF):c.5767+1G>A


NM_003494.4(DYSF):c.5821A>T (p.Lys1941Ter)

rs1553420738 
NM_003494.4(DYSF):c.59471G>C

rs886042636 
NM_003494.4(DYSF):c.6022G>T (p.Glu2008Ter)

rs886043489 
NM_003494.4(DYSF):c.6049del (p.Asp2017fs)


NM_003494.4(DYSF):c.6216del (p.Ala2072_Met2073insTer)

rs886043884 
NM_003494.4(DYSF):c.661C>T (p.Gln221Ter)

rs886044381 
NM_003494.4(DYSF):c.792+2T>A

rs886042970 
NM_003494.4(DYSF):c.7932A>G

rs934428561 
NM_003494.4(DYSF):c.855+2T>G

rs886042590 
NM_003494.4(DYSF):c.899del (p.Glu300fs)

rs886044386 
NM_003494.4(DYSF):c.937+2T>C

rs886042617 
NM_003494.4(DYSF):c.997_998del (p.Ala333fs)

rs1553525756 