NC_000002.11:g.71788622_71897384dup


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

rs756118312 
NM_001130987.1(DYSF):c.4478_4481dup (p.Ser1495Valfs)

rs1553389065 
NM_001130987.1(DYSF):c.4494dup (p.Thr1499Hisfs)

rs1553389118 
NM_001130987.2(DYSF):c.1033+1G>A

rs201869739 
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)

rs768546511 
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)

rs766891289 
NM_001130987.2(DYSF):c.1149+1G>A

rs398123763 
NM_001130987.2(DYSF):c.1149+7A>T

rs771741504 
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=)

rs199955501 
NM_001130987.2(DYSF):c.1216G>C (p.Val406Leu)

rs150724610 
NM_001130987.2(DYSF):c.1263_1276+1dup

rs863225019 
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)

rs886042389 
NM_001130987.2(DYSF):c.1274_1276+4dup

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

rs766433603 
NM_001130987.2(DYSF):c.12772A>C

rs1553531682 
NM_001130987.2(DYSF):c.1332_1334GAA[1] (p.Lys445del)

rs1553531818 
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.1439T>C (p.Leu480Pro)

rs794727119 
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.1493+1G>A

rs1553536007 
NM_001130987.2(DYSF):c.14941G>A

rs398123768 
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)

rs139258703 
NM_001130987.2(DYSF):c.1560del (p.Gly521fs)

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

rs1559109621 
NM_001130987.2(DYSF):c.1576+18T>C

rs768373625 
NM_001130987.2(DYSF):c.15771651delinsAA

rs1553541329 
NM_001130987.2(DYSF):c.15771692G>A

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

rs1553542142 
NM_001130987.2(DYSF):c.167dup (p.Ile58fs)

rs863225020 
NM_001130987.2(DYSF):c.16936T>A

rs886039573 
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)

rs200916654 
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu)

rs546679270 
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)

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

rs201049092 
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg)

rs201049092 
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)

rs886043900 
NM_001130987.2(DYSF):c.1927G>T (p.Asp643Tyr)

rs121908960 
NM_001130987.2(DYSF):c.2016C>T (p.Asn672=)

rs199565036 
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp)

rs121908957 
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)

rs886042878 
NM_001130987.2(DYSF):c.22172A>G

rs747289205 
NM_001130987.2(DYSF):c.2401G>A

rs1553518087 
NM_001130987.2(DYSF):c.2409+1G>A

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

rs121908956 
NM_001130987.2(DYSF):c.2462G>A (p.Arg821His)

rs759675023 
NM_001130987.2(DYSF):c.2463_2477dup (p.Ala823_Val827dup)

rs1326126736 
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.2706C>T (p.Asn902=)

rs398123775 
NM_001130987.2(DYSF):c.2777_2788del (p.Thr926_Ile929del)

rs1553553762 
NM_001130987.2(DYSF):c.2816C>T (p.Ser939Leu)

rs535323489 
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)

rs727503910 
NM_001130987.2(DYSF):c.2864+1G>A

rs199954546 
NM_001130987.2(DYSF):c.2864+5G>A

rs886044131 
NM_001130987.2(DYSF):c.28652A>C

rs886043964 
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)

rs202218890 
NM_001130987.2(DYSF):c.298_300del (p.Ala100del)

rs1316197789 
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.3067C>T (p.Arg1023Trp)

rs778316824 
NM_001130987.2(DYSF):c.3085+1G>T

rs1553555585 
NM_001130987.2(DYSF):c.308617G>T

rs3764971 
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)

rs756328339 
NM_001130987.2(DYSF):c.3098_3103dup (p.Ser1033_Ile1034dup)

rs1553555901 
NM_001130987.2(DYSF):c.3113C>T (p.Pro1038Leu)

rs764931697 
NM_001130987.2(DYSF):c.3114G>A (p.Pro1038=)

rs398123778 
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)

rs369607332 
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)

rs760443264 
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)

rs144598063 
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)

rs121908958 
NM_001130987.2(DYSF):c.3228+8_3228+33del

rs1553556251 
NM_001130987.2(DYSF):c.3239_3244CGGAGG[4] (p.1080_1081AE[4])

rs398123779 
NM_001130987.2(DYSF):c.3322_3324CGC[5] (p.Arg1111dup)

rs779680055 
NM_001130987.2(DYSF):c.3333_3335del (p.Trp1112del)

rs1553361884 
NM_001130987.2(DYSF):c.342del (p.Ala116fs)

rs886042379 
NM_001130987.2(DYSF):c.3477G>A (p.Thr1159=)

rs576460368 
NM_001130987.2(DYSF):c.349733A>G

rs786205083 
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.3655C>T (p.Gln1219Ter)

rs1380642629 
NM_001130987.2(DYSF):c.3665_3667TCT[1] (p.Phe1223del)

rs1173583014 
NM_001130987.2(DYSF):c.3672C>T (p.Tyr1224=)

rs143393575 
NM_001130987.2(DYSF):c.3713_3718del (p.Gln1238_Pro1239del)

rs748683903 
NM_001130987.2(DYSF):c.3779G>A (p.Arg1260His)

rs2303603 
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs)

rs1553376558 
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)

rs763674597 
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)

rs34997054 
NM_001130987.2(DYSF):c.3897+1G>A

rs1553376691 
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)

rs121908954 
NM_001130987.2(DYSF):c.3957+2T>A

rs1553377764 
NM_001130987.2(DYSF):c.3969del (p.Asp1324fs)

rs1553381945 
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter)

rs1558613592 
NM_001130987.2(DYSF):c.4042C>T (p.Gln1348Ter)

rs778092738 
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)

rs773837400 
NM_001130987.2(DYSF):c.4150G>A (p.Val1384Met)

rs1404000468 
NM_001130987.2(DYSF):c.4221+1G>C

rs1474151297 
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)

rs138268837 
NM_001130987.2(DYSF):c.4290_4292CCG[1] (p.Arg1432del)

rs765090357 
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)

rs398123787 
NM_001130987.2(DYSF):c.4387+3_4387+28del

rs1553383255 
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)

rs886044411 
NM_001130987.2(DYSF):c.44651G>A

rs1553389041 
NM_001130987.2(DYSF):c.45282A>G

rs1213965862 
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)

rs766016391 
NM_001130987.2(DYSF):c.4597T>C (p.Tyr1533His)

rs150139276 
NM_001130987.2(DYSF):c.460+1G>A

rs1278864604 
NM_001130987.2(DYSF):c.4611G>A

rs1553520795 
NM_001130987.2(DYSF):c.4626+1G>A

rs1558708492 
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)

rs757820496 
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs)

rs1553408378 
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter)

rs770905160 
NM_001130987.2(DYSF):c.4702C>T (p.Arg1568Trp)

rs375698433 
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)

rs398123789 
NM_001130987.2(DYSF):c.4941del (p.Lys1648fs)

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

rs786200896 
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile)

rs147056383 
NM_001130987.2(DYSF):c.5003+1249G>T

rs886042110 
NM_001130987.2(DYSF):c.5071_5073CTC[1] (p.Leu1692del)

rs1163037004 
NM_001130987.2(DYSF):c.5102C>T (p.Thr1701Met)

rs143059463 
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)

rs753279446 
NM_001130987.2(DYSF):c.5174+2T>C

rs1553412826 
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.5333C>A (p.Pro1778Gln)

rs145272777 
NM_001130987.2(DYSF):c.5362C>T (p.Arg1788Cys)

rs545645581 
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)

rs746243052 
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)

rs148860301 
NM_001130987.2(DYSF):c.5457+1G>A

rs1553414413 
NM_001130987.2(DYSF):c.5488C>T (p.Pro1830Ser)

rs145832952 
NM_001130987.2(DYSF):c.5516_5517dup (p.Phe1840fs)

rs1558783870 
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)

rs786205084 
NM_001130987.2(DYSF):c.5557C>T (p.Arg1853Cys)

rs1280185461 
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)

rs886042584 
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)

rs398123794 
NM_001130987.2(DYSF):c.5642G>A (p.Gly1881Asp)

rs1131692158 
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs)

rs1553416039 
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His)

rs762258343 
NM_001130987.2(DYSF):c.5784+1G>A

rs909564120 
NM_001130987.2(DYSF):c.57851G>C

rs751473506 
NM_001130987.2(DYSF):c.57857G>A

rs753861836 
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)

rs121908959 
NM_001130987.2(DYSF):c.5841C>T (p.Phe1947=)

rs772521748 
NM_001130987.2(DYSF):c.58851G>C

rs771257070 
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)

rs398123797 
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)

rs1064794020 
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)

rs1057521141 
NM_001130987.2(DYSF):c.6063G>A (p.Ala2021=)

rs138936064 
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)

rs398123799 
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)

rs115407852 
NM_001130987.2(DYSF):c.61742A>G

rs1451269647 
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.6251G>A (p.Trp2084Ter)

rs1553422709 
NM_001130987.2(DYSF):c.6252G>A (p.Trp2084Ter)

rs1553422723 
NM_001130987.2(DYSF):c.6259_6270ATCCTCTTCATC[1] (p.2087_2090ILFI[1])

rs749619435 
NM_001130987.2(DYSF):c.6268_6270ATC[1] (p.Ile2091del)

rs1553422765 
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)

rs746663568 
NM_001130987.2(DYSF):c.6320C>T (p.Pro2107Leu)

rs149732545 
NM_001130987.2(DYSF):c.632G>A (p.Gly211Asp)

rs768820090 
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.7607_7606delinsATCC

rs1553521641 
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)

rs398123802 
NM_001130987.2(DYSF):c.875C>G (p.Pro292Arg)

rs1559053603 
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)

rs794727851 
NM_001130987.2(DYSF):c.888+1G>A

rs886044377 
NM_001130987.2(DYSF):c.890_891CT[1] (p.Leu298fs)

rs1553522104 
NM_001130987.2(DYSF):c.922del (p.Glu308fs)

rs1553522133 
NM_001130987.2(DYSF):c.947T>C (p.Ile316Thr)

rs1553522164 
NM_001130987.2(DYSF):c.951+1del

rs786200898 
NM_001130987.2(DYSF):c.9522A>G

rs1553522730 
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)

rs1553522751 
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)

rs121908963 
NM_001130987.2(DYSF):c.992G>A (p.Gly331Glu)

rs1258728780 
NM_003494.3(DYSF):c.1480+1delG

rs1553537332 
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.3516_3517delTT

rs766341386 
NM_003494.3(DYSF):c.5057+6_5057+7dup

rs1553412837 
NM_003494.3(DYSF):c.5078G>A

rs779987458 
NM_003494.3(DYSF):c.88+12805_88+12807delAAG

rs1553501109 
NM_003494.3(DYSF):c.[2643+1G>A];[3113G>A]


NM_003494.3(DYSF):c.[2643+1G>A];[4577A>C]


NM_003494.4(DYSF):c.1162dup (p.Ala388fs)

rs779969348 
NM_003494.4(DYSF):c.1375dup (p.Met459fs)

rs1236367931 
NM_003494.4(DYSF):c.1397+2dup

rs753885022 
NM_003494.4(DYSF):c.1A>G (p.Met1Val)

rs1259378167 
NM_003494.4(DYSF):c.2T>C (p.Met1Thr)

rs1459713589 
NM_003494.4(DYSF):c.3260_3262dup (p.Asp1087dup)

rs1553361783 
NM_003494.4(DYSF):c.3517dup (p.Ser1173fs)

rs766341386 
NM_003494.4(DYSF):c.4022T>C (p.Leu1341Pro)

rs757917335 
NM_003494.4(DYSF):c.5039_5057+4dup

rs786205082 
NM_003494.4(DYSF):c.5414dup (p.Arg1806fs)

rs1553415211 
NM_003494.4(DYSF):c.5525+3dup

rs1341734203 
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs)

rs1553495983 
NM_003494.4(DYSF):c.75C>T (p.Ser25=)

rs375772222 
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]

