NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00006
|
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)
|
rs398123799
|
0.00005
|
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
|
rs398123787
|
0.00004
|
NM_001130987.2(DYSF):c.3886C>T (p.Gln1296Ter)
|
rs727503911
|
0.00003
|
NM_001130987.2(DYSF):c.4802dup (p.Met1601fs)
|
rs778065845
|
0.00003
|
NM_001130987.2(DYSF):c.797G>A (p.Gly266Glu)
|
rs141497053
|
0.00003
|
NM_001130987.2(DYSF):c.1149+1G>A
|
rs398123763
|
0.00002
|
NM_001130987.2(DYSF):c.1380+2T>C
|
rs398123765
|
0.00002
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
NM_001130987.2(DYSF):c.3403-2A>G
|
rs370874727
|
0.00002
|
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)
|
rs121908955
|
0.00002
|
NM_001130987.2(DYSF):c.1033+1G>A
|
rs201869739
|
0.00001
|
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)
|
rs768546511
|
0.00001
|
NM_001130987.2(DYSF):c.1225C>T (p.Arg409Ter)
|
rs758180890
|
0.00001
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
0.00001
|
NM_001130987.2(DYSF):c.1439T>C (p.Leu480Pro)
|
rs794727119
|
0.00001
|
NM_001130987.2(DYSF):c.1609G>A (p.Gly537Arg)
|
rs121908962
|
0.00001
|
NM_001130987.2(DYSF):c.1693-6T>A
|
rs886039573
|
0.00001
|
NM_001130987.2(DYSF):c.1717C>T (p.Arg573Trp)
|
rs377735262
|
0.00001
|
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)
|
rs746873768
|
0.00001
|
NM_001130987.2(DYSF):c.2125C>T (p.Gln709Ter)
|
rs756258757
|
0.00001
|
NM_001130987.2(DYSF):c.2409+1G>A
|
rs151317754
|
0.00001
|
NM_001130987.2(DYSF):c.2864+1G>A
|
rs199954546
|
0.00001
|
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)
|
rs28937581
|
0.00001
|
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.3421_3422del (p.Lys1141fs)
|
rs748542672
|
0.00001
|
NM_001130987.2(DYSF):c.3532C>T (p.Gln1178Ter)
|
rs886042091
|
0.00001
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
NM_001130987.2(DYSF):c.3859G>T (p.Glu1287Ter)
|
rs763674597
|
0.00001
|
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
|
rs758993965
|
0.00001
|
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)
|
rs886044411
|
0.00001
|
NM_001130987.2(DYSF):c.4873C>T (p.Arg1625Ter)
|
rs398123789
|
0.00001
|
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs)
|
rs1156805286
|
0.00001
|
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)
|
rs779987458
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001130987.2(DYSF):c.5458-1G>A
|
rs886042879
|
0.00001
|
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)
|
rs398123794
|
0.00001
|
NM_001130987.2(DYSF):c.5830C>T (p.Arg1944Ter)
|
rs121908959
|
0.00001
|
NM_001130987.2(DYSF):c.5884+1G>A
|
rs756689063
|
0.00001
|
NM_001130987.2(DYSF):c.6099_6106dup (p.His2036fs)
|
rs886042318
|
0.00001
|
NM_001130987.2(DYSF):c.6313G>A (p.Ala2105Thr)
|
rs746663568
|
0.00001
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
NM_001130987.2(DYSF):c.961T>C (p.Ser321Pro)
|
rs398123808
|
0.00001
|
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)
|
rs121908963
|
0.00001
|
NM_001130987.2(DYSF):c.1000del (p.Arg334fs)
|
rs1573671276
|
|
NM_001130987.2(DYSF):c.1002+4A>G
|
rs905322985
|
|
NM_001130987.2(DYSF):c.1055G>A (p.Trp352Ter)
|
|
|
NM_001130987.2(DYSF):c.110_111del (p.Lys37fs)
|
rs398123764
|
|
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1258del (p.Ala420fs)
|
rs779969348
|
|
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)
|
rs778673716
|
|
NM_001130987.2(DYSF):c.1261G>C (p.Glu421Gln)
|
|
|
NM_001130987.2(DYSF):c.128dup (p.Asn44fs)
|
|
|
NM_001130987.2(DYSF):c.1350del (p.Phe451fs)
|
rs766936914
|
|
NM_001130987.2(DYSF):c.1464C>A (p.Cys488Ter)
|
rs202044973
|
|
NM_001130987.2(DYSF):c.147+1G>A
|
rs2082833010
|
|
NM_001130987.2(DYSF):c.1471dup (p.Met491fs)
|
rs1236367931
|
|
NM_001130987.2(DYSF):c.148-2A>G
|
|
|
NM_001130987.2(DYSF):c.1488dup (p.Asp497fs)
|
rs398123767
|
|
NM_001130987.2(DYSF):c.1576+1del
|
rs1553537332
|
|
NM_001130987.2(DYSF):c.1867C>T (p.Gln623Ter)
|
rs121908953
|
|
NM_001130987.2(DYSF):c.1915G>A (p.Gly639Arg)
|
rs886043900
|
|
NM_001130987.2(DYSF):c.203_204delinsAT (p.Val68Asp)
|
rs121908957
|
|
NM_001130987.2(DYSF):c.2365C>T (p.Gln789Ter)
|
rs398123773
|
|
NM_001130987.2(DYSF):c.2426C>G (p.Pro809Arg)
|
rs121908956
|
|
NM_001130987.2(DYSF):c.2550_2553del (p.Thr851fs)
|
rs755849745
|
|
NM_001130987.2(DYSF):c.2605C>T (p.Gln869Ter)
|
rs780129376
|
|
NM_001130987.2(DYSF):c.268C>T (p.Arg90Ter)
|
rs794727636
|
|
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)
|
rs727503910
|
|
NM_001130987.2(DYSF):c.2891del (p.His964fs)
|
|
|
NM_001130987.2(DYSF):c.2912dup (p.Phe972fs)
|
rs2092323164
|
|
NM_001130987.2(DYSF):c.2924_2928del (p.Gln975fs)
|
rs398123777
|
|
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)
|
rs750028300
|
|
NM_001130987.2(DYSF):c.3085+2T>C
|
rs886042951
|
|
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.3172C>T (p.Arg1058Trp)
|
rs1553556116
|
|
NM_001130987.2(DYSF):c.3298G>T (p.Glu1100Ter)
|
|
|
NM_001130987.2(DYSF):c.334C>T (p.Gln112Ter)
|
rs746315830
|
|
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs)
|
rs398123780
|
|
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
|
rs886042379
|
|
NM_001130987.2(DYSF):c.3443_3453dup (p.Ser1152_Phe1153insProProTer)
|
|
|
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)
|
rs398123781
|
|
NM_001130987.2(DYSF):c.3566_3567del (p.Ser1189fs)
|
rs886042827
|
|
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3655C>T (p.Gln1219Ter)
|
rs1380642629
|
|
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)
|
rs143393575
|
|
NM_001130987.2(DYSF):c.3672C>G (p.Tyr1224Ter)
|
|
|
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs)
|
rs779407815
|
|
NM_001130987.2(DYSF):c.4254del (p.Ile1419fs)
|
rs398123786
|
|
NM_001130987.2(DYSF):c.4254dup (p.Ile1419fs)
|
rs398123786
|
|
NM_001130987.2(DYSF):c.4353C>G (p.Tyr1451Ter)
|
rs886043145
|
|
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)
|
|
|
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter)
|
rs886042635
|
|
NM_001130987.2(DYSF):c.4756-1G>A
|
rs2152940909
|
|
NM_001130987.2(DYSF):c.4989_4993delinsCCCC (p.Glu1663fs)
|
rs786200896
|
|
NM_001130987.2(DYSF):c.5003+1249G>T
|
rs886042110
|
|
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)
|
rs1057519132
|
|
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)
|
rs758992291
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.5383C>T (p.Gln1795Ter)
|
rs727503912
|
|
NM_001130987.2(DYSF):c.5405del (p.Glu1802fs)
|
rs2095035479
|
|
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs)
|
rs1553415211
|
|
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)
|
rs886042584
|
|
NM_001130987.2(DYSF):c.5642+1G>A
|
rs727503915
|
|
NM_001130987.2(DYSF):c.5642+3A>G
|
|
|
NM_001130987.2(DYSF):c.5646G>A (p.Trp1882Ter)
|
rs886043966
|
|
NM_001130987.2(DYSF):c.5680_5681insC (p.Asp1894fs)
|
|
|
NM_001130987.2(DYSF):c.5711del (p.Gly1904fs)
|
rs786205081
|
|
NM_001130987.2(DYSF):c.5757del (p.Glu1920fs)
|
rs1573100371
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
|
NM_001130987.2(DYSF):c.5815_5816del (p.Ser1939fs)
|
rs398123796
|
|
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)
|
rs398123797
|
|
NM_001130987.2(DYSF):c.5977G>T (p.Glu1993Ter)
|
|
|
NM_001130987.2(DYSF):c.5990C>T (p.Ser1997Phe)
|
|
|
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)
|
rs1057521141
|
|
NM_001130987.2(DYSF):c.6198G>A (p.Trp2066Ter)
|
|
|
NM_001130987.2(DYSF):c.622C>T (p.Gln208Ter)
|
rs1553521017
|
|
NM_001130987.2(DYSF):c.706C>T (p.Arg236Ter)
|
rs373585652
|
|
NM_001130987.2(DYSF):c.759+1G>C
|
rs398123800
|
|
NM_001130987.2(DYSF):c.859del (p.His287fs)
|
|
|
NM_001130987.2(DYSF):c.888+1G>A
|
rs886044377
|
|
NM_001130987.2(DYSF):c.892_893del (p.Leu298fs)
|
rs1553522104
|
|
NM_001130987.2(DYSF):c.907_910del (p.Phe303fs)
|
|
|
NM_001130987.2(DYSF):c.922del (p.Glu308fs)
|
rs1553522133
|
|
NM_001130987.2(DYSF):c.923del (p.Glu308fs)
|
rs2086635842
|
|
NM_001130987.2(DYSF):c.951+1del
|
rs786200898
|
|
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)
|
rs1553522751
|
|
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)
|
rs121908963
|
|
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)
|
rs727503909
|
|
NM_003494.3(DYSF):c.3504dup (p.Lys1169Glnfs)
|
rs886042504
|
|
NM_003494.4(DYSF):c.1481-1G>A
|
rs398123770
|
|
NM_003494.4(DYSF):c.1642del
|
rs398123772
|
|