NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00006
|
NM_001130987.2(DYSF):c.4307G>A (p.Gly1436Asp)
|
rs398123787
|
0.00004
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00004
|
NM_001130987.2(DYSF):c.1721T>C (p.Leu574Pro)
|
rs200916654
|
0.00003
|
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)
|
rs148860301
|
0.00003
|
NM_001130987.2(DYSF):c.1258dup (p.Ala420fs)
|
rs779969348
|
0.00002
|
NM_001130987.2(DYSF):c.2929C>T (p.Arg977Trp)
|
rs202218890
|
0.00002
|
NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln)
|
rs752689148
|
0.00002
|
NM_001130987.2(DYSF):c.3403-2A>G
|
rs370874727
|
0.00002
|
NM_001130987.2(DYSF):c.4076T>C (p.Leu1359Pro)
|
rs757917335
|
0.00002
|
NM_001130987.2(DYSF):c.6241C>T (p.Arg2081Cys)
|
rs121908955
|
0.00002
|
NM_001130987.2(DYSF):c.1061T>C (p.Leu354Pro)
|
rs768546511
|
0.00001
|
NM_001130987.2(DYSF):c.1264G>A (p.Asp422Asn)
|
rs886042389
|
0.00001
|
NM_001130987.2(DYSF):c.1276+5G>A
|
rs766433603
|
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.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001130987.2(DYSF):c.2217-2A>G
|
rs747289205
|
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.3167G>A (p.Arg1056Gln)
|
rs150877497
|
0.00001
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
NM_001130987.2(DYSF):c.4057G>A (p.Glu1353Lys)
|
rs758993965
|
0.00001
|
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)
|
rs769721856
|
0.00001
|
NM_001130987.2(DYSF):c.4462C>T (p.Gln1488Ter)
|
rs886044411
|
0.00001
|
NM_001130987.2(DYSF):c.4528-2A>G
|
rs1213965862
|
0.00001
|
NM_001130987.2(DYSF):c.460+1G>A
|
rs1278864604
|
0.00001
|
NM_001130987.2(DYSF):c.5195G>A (p.Arg1732Gln)
|
rs779987458
|
0.00001
|
NM_001130987.2(DYSF):c.5200C>T (p.Gln1734Ter)
|
rs886044422
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001130987.2(DYSF):c.5784+1G>A
|
rs909564120
|
0.00001
|
NM_001130987.2(DYSF):c.5884+1G>A
|
rs756689063
|
0.00001
|
NM_001130987.2(DYSF):c.5885-1G>C
|
rs771257070
|
0.00001
|
NM_001130987.2(DYSF):c.851C>T (p.Thr284Met)
|
rs398123802
|
0.00001
|
NM_001130987.2(DYSF):c.991G>A (p.Gly331Arg)
|
rs121908963
|
0.00001
|
NM_000070.3(CAPN3):c.1813G>C (p.Val605Leu)
|
rs200759807
|
|
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs)
|
rs756118312
|
|
NM_001130987.2(DYSF):c.1002+4A>G
|
rs905322985
|
|
NM_001130987.2(DYSF):c.1033+2T>C
|
rs886042617
|
|
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1127T>C (p.Leu376Pro)
|
rs2152742282
|
|
NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter)
|
|
|
NM_001130987.2(DYSF):c.1258del (p.Ala420fs)
|
rs779969348
|
|
NM_001130987.2(DYSF):c.1277-2A>C
|
rs1553531682
|
|
NM_001130987.2(DYSF):c.1493+1G>A
|
rs1553536007
|
|
NM_001130987.2(DYSF):c.1494-1G>A
|
rs398123768
|
|
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)
|
rs139258703
|
|
NM_001130987.2(DYSF):c.1576+1del
|
rs1553537332
|
|
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)
|
rs886042641
|
|
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.2266C>T (p.Gln756Ter)
|
rs1172643225
|
|
NM_001130987.2(DYSF):c.240-1G>A
|
rs1553518087
|
|
NM_001130987.2(DYSF):c.2864+1dup
|
|
|
NM_001130987.2(DYSF):c.2865-2A>C
|
rs886043964
|
|
NM_001130987.2(DYSF):c.3085+1G>T
|
rs1553555585
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs)
|
rs753711667
|
|
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)
|
rs1553556116
|
|
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
|
rs886042379
|
|
NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs)
|
|
|
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer)
|
rs1574264671
|
|
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)
|
rs758107024
|
|
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs)
|
rs1553376558
|
|
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs)
|
rs1574277160
|
|
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.4179del (p.Lys1394fs)
|
rs1574340607
|
|
NM_001130987.2(DYSF):c.4221+5del
|
rs1574341049
|
|
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)
|
|
|
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
NM_001130987.2(DYSF):c.4626+1G>A
|
rs1558708492
|
|
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs)
|
rs1553408378
|
|
NM_001130987.2(DYSF):c.4691del (p.Phe1564fs)
|
rs1572994572
|
|
NM_001130987.2(DYSF):c.4701C>G (p.Tyr1567Ter)
|
rs770905160
|
|
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter)
|
rs1573009747
|
|
NM_001130987.2(DYSF):c.5003+1249G>T
|
rs886042110
|
|
NM_001130987.2(DYSF):c.5174+2T>C
|
rs1553412826
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.5195G>C (p.Arg1732Pro)
|
|
|
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs)
|
rs1558771348
|
|
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)
|
|
|
NM_001130987.2(DYSF):c.5457+1G>A
|
rs1553414413
|
|
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs)
|
rs1553415211
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)
|
rs886042584
|
|
NM_001130987.2(DYSF):c.5571G>C (p.Trp1857Cys)
|
rs1573094789
|
|
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs)
|
rs1553416039
|
|
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu)
|
rs1233961202
|
|
NM_001130987.2(DYSF):c.5724dup (p.Arg1909fs)
|
|
|
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His)
|
rs762258343
|
|
NM_001130987.2(DYSF):c.5785-1G>C
|
rs751473506
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
|
NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro)
|
|
|
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)
|
rs1057521141
|
|
NM_001130987.2(DYSF):c.6174-2A>G
|
rs1451269647
|
|
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter)
|
rs1553422709
|
|
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.952-2A>G
|
rs1553522730
|
|
NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)
|
rs1553522751
|
|
NM_001130987.2(DYSF):c.982del (p.Ala328fs)
|
|
|
NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)
|
rs121908963
|
|
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.1521delinsAA (p.Asp507fs)
|
rs1553541329
|
|
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.66_69dup (p.Cys24fs)
|
rs1553495983
|
|
NM_003494.4(DYSF):c.[1670T>C];[4701C>G]
|
|
|
Single allele
|
|
|