NC_000002.11:g.71788622_71897384dup


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

rs756118312 
NM_001130987.2(DYSF):c.10032A>G

rs1559065297 
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.1225C>T (p.Arg409Ter)

rs758180890 
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)

rs886042389 
NM_001130987.2(DYSF):c.1276+5G>A

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

rs1553531682 
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.15771651delinsAA

rs1553541329 
NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg)

rs1553508863 
NM_001130987.2(DYSF):c.16936T>A

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

rs200916654 
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu575_Leu576insVal)

rs1446214240 
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.2020A>G (p.Lys674Glu)

rs139754493 
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.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.3028T>C (p.Trp1010Arg)

rs750028300 
NM_001130987.2(DYSF):c.3085+1G>T

rs1553555585 
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)

rs756328339 
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)

rs121908958 
NM_001130987.2(DYSF):c.342del (p.Ala116fs)

rs886042379 
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter)

rs758944159 
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs)

rs1553376558 
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)

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

rs1553376691 
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.404C>T (p.Pro135Leu)

rs773837400 
NM_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)

rs138268837 
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)

rs398123787 
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)

rs886044411 
NM_001130987.2(DYSF):c.45282A>G

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

rs766016391 
NM_001130987.2(DYSF):c.460+1G>A

rs1278864604 
NM_001130987.2(DYSF):c.4626+1G>A

rs1558708492 
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs)

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

rs770905160 
NM_001130987.2(DYSF):c.5003+1249G>T

rs886042110 
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)

rs1057519132 
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)

rs141137410 
NM_001130987.2(DYSF):c.5174+2T>C

rs1553412826 
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.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.5561G>T (p.Cys1854Phe)

rs886042584 
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs)

rs1553416039 
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp)

rs1024524968 
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.58851G>C

rs771257070 
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)

rs1057521141 
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)

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

rs1451269647 
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.797G>A (p.Gly266Glu)

rs141497053 
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.9522A>G

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

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

rs121908963 
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.5078G>A

rs779987458 
NM_003494.3(DYSF):c.[2643+1G>A];[3113G>A]


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


NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]


NM_003494.4(DYSF):c.105443_1059delinsA


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

rs779969348 
NM_003494.4(DYSF):c.1434del (p.Tyr479fs)

rs786205632 
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.3118C>T (p.Arg1040Trp)

rs1553556116 
NM_003494.4(DYSF):c.3517dup (p.Ser1173fs)

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

rs757917335 
NM_003494.4(DYSF):c.4333+2T>A

rs759939755 
NM_003494.4(DYSF):c.5018del (p.Lys1673fs)

rs1064797253 
NM_003494.4(DYSF):c.5414dup (p.Arg1806fs)

rs1553415211 
NM_003494.4(DYSF):c.5767+1G>A


NM_003494.4(DYSF):c.6056G>A (p.Arg2019Lys)

rs886042452 
NM_003494.4(DYSF):c.631A>G (p.Lys211Glu)

rs786205525 
NM_003494.4(DYSF):c.66_69dup (p.Cys24fs)

rs1553495983 
NM_003494.4(DYSF):c.757C>T (p.Arg253Trp)

rs149827237 
NM_003494.4(DYSF):c.891G>A

rs786205524 
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]

