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.1258dup (p.Ala420fs)
|
rs779969348
|
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.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.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_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs)
|
rs756118312
|
|
NM_001130987.2(DYSF):c.1116C>A (p.Ser372Arg)
|
rs766891289
|
|
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.1915G>A (p.Gly639Arg)
|
rs886043900
|
|
NM_001130987.2(DYSF):c.240-1G>A
|
rs1553518087
|
|
NM_001130987.2(DYSF):c.2865-2A>C
|
rs886043964
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
|
rs886042379
|
|
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs)
|
rs1553376558
|
|
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.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs)
|
rs1553408378
|
|
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.5457+1G>A
|
rs1553414413
|
|
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs)
|
rs1553415211
|
|
NM_001130987.2(DYSF):c.5561G>T (p.Cys1854Phe)
|
rs886042584
|
|
NM_001130987.2(DYSF):c.5785-1G>C
|
rs751473506
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
|
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.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_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
|
|