NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)
|
rs372880553
|
0.00024
|
NM_001130987.2(DYSF):c.3175C>T (p.Arg1059Cys)
|
rs144598063
|
0.00014
|
NM_001130987.2(DYSF):c.4078C>T (p.Arg1360Trp)
|
rs199870606
|
0.00010
|
NM_001130987.2(DYSF):c.3191G>A (p.Arg1064His)
|
rs121908958
|
0.00006
|
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)
|
rs760443264
|
0.00004
|
NM_001130987.2(DYSF):c.3173G>A (p.Arg1058Gln)
|
rs372226487
|
0.00004
|
NM_001130987.2(DYSF):c.3190C>T (p.Arg1064Cys)
|
rs752810646
|
0.00004
|
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.3170G>A (p.Arg1057Gln)
|
rs149617331
|
0.00003
|
NM_001130987.2(DYSF):c.3498T>A (p.Tyr1166Ter)
|
rs758944159
|
0.00003
|
NM_001130987.2(DYSF):c.4079G>A (p.Arg1360Gln)
|
rs747583441
|
0.00003
|
NM_001130987.2(DYSF):c.5420G>A (p.Arg1807Gln)
|
rs148860301
|
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.1258dup (p.Ala420fs)
|
rs779969348
|
0.00002
|
NM_001130987.2(DYSF):c.2930G>A (p.Arg977Gln)
|
rs752689148
|
0.00002
|
NM_001130987.2(DYSF):c.3176G>A (p.Arg1059His)
|
rs754763074
|
0.00002
|
NM_001130987.2(DYSF):c.3403-2A>G
|
rs370874727
|
0.00002
|
NM_001130987.2(DYSF):c.404C>T (p.Pro135Leu)
|
rs773837400
|
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.1225C>T (p.Arg409Ter)
|
rs758180890
|
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.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.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.2426C>T (p.Pro809Leu)
|
rs121908956
|
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.4135T>C (p.Cys1379Arg)
|
rs776472879
|
0.00001
|
NM_001130987.2(DYSF):c.4282C>T (p.Gln1428Ter)
|
rs769721856
|
0.00001
|
NM_001130987.2(DYSF):c.4387+2T>C
|
rs759939755
|
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.4631A>G (p.Tyr1544Cys)
|
rs757820496
|
0.00001
|
NM_001130987.2(DYSF):c.4911+1G>T
|
rs777216777
|
0.00001
|
NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter)
|
rs1476505138
|
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.5239C>T (p.Gln1747Ter)
|
rs1342179740
|
0.00001
|
NM_001130987.2(DYSF):c.5419C>T (p.Arg1807Trp)
|
rs746243052
|
0.00001
|
NM_001130987.2(DYSF):c.5626G>A (p.Asp1876Asn)
|
rs398123794
|
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.6021G>A (p.Trp2007Ter)
|
rs1553420848
|
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.889-2A>G
|
rs934428561
|
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.992G>A (p.Gly331Glu)
|
rs1258728780
|
0.00001
|
GRCh37/hg19 2p13.2(chr2:71755428-71755531)x0
|
|
|
NC_000002.11:g.(71748035_71753349)_(71766370_71776479)dup
|
|
|
NC_000002.11:g.(?_71680752)_(71681217_71708012)del
|
|
|
NC_000002.11:g.(?_71693963)_(71744179_?)dup
|
|
|
NC_000002.11:g.(?_71755408)_(71755551_?)dup
|
|
|
NC_000002.11:g.(?_71816713)_(71817428_?)dup
|
|
|
NC_000002.11:g.(?_71913574)_(71913729_?)del
|
|
|
NC_000002.12:g.(?_71511797)_(71539257_?)dup
|
|
|
NC_000002.12:g.(?_71520168)_(71549401_?)dup
|
|
|
NC_000002.12:g.(?_71549340)_(71549401_?)del
|
|
|
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs)
|
rs756118312
|
|
NM_001130987.2(DYSF):c.1002+1G>A
|
|
|
NM_001130987.2(DYSF):c.1002+4A>G
|
rs905322985
|
|
NM_001130987.2(DYSF):c.1003-2A>G
|
rs1559065297
|
|
NM_001130987.2(DYSF):c.1003-3C>A
|
rs2087101244
|
|
NM_001130987.2(DYSF):c.1033+2T>C
|
rs886042617
|
|
NM_001130987.2(DYSF):c.1033+4A>T
|
rs1397221551
|
|
NM_001130987.2(DYSF):c.1055G>C (p.Trp352Ser)
|
rs2152742210
|
|
NM_001130987.2(DYSF):c.1067C>G (p.Ser356Ter)
|
|
|
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.1149+5G>A
|
rs1023002894
|
|
NM_001130987.2(DYSF):c.1150-42_1155del
|
rs1573743003
|
|
NM_001130987.2(DYSF):c.1150-43_1155delinsA
|
rs1573743003
|
|
NM_001130987.2(DYSF):c.1156A>T (p.Arg386Ter)
|
|
|
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)
|
|
|
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter)
|
rs2082829594
|
|
NM_001130987.2(DYSF):c.1192del (p.Ser398fs)
|
rs2087887269
|
|
NM_001130987.2(DYSF):c.1233_1239dup (p.Cys414fs)
|
rs2152748641
|
|
NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)
|
|
|
NM_001130987.2(DYSF):c.1260del (p.Glu421fs)
|
rs1559079887
|
|
NM_001130987.2(DYSF):c.1261G>A (p.Glu421Lys)
|
rs778673716
|
|
NM_001130987.2(DYSF):c.1264_1276+1dup
|
|
|
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter)
|
rs2087900330
|
|
NM_001130987.2(DYSF):c.1272_1276+3dup
|
|
|
NM_001130987.2(DYSF):c.1274_1276+4dup
|
rs768425085
|
|
NM_001130987.2(DYSF):c.1276+5G>C
|
rs766433603
|
|
NM_001130987.2(DYSF):c.1276_1276+3del
|
|
|
NM_001130987.2(DYSF):c.1277-2A>C
|
rs1553531682
|
|
NM_001130987.2(DYSF):c.1381-2del
|
|
|
NM_001130987.2(DYSF):c.1381_1418del (p.Leu461fs)
|
rs2152760967
|
|
NM_001130987.2(DYSF):c.139T>C (p.Trp47Arg)
|
rs2082832384
|
|
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter)
|
rs2089169741
|
|
NM_001130987.2(DYSF):c.1475_1477del (p.Arg492del)
|
rs2152761340
|
|
NM_001130987.2(DYSF):c.1493+1G>A
|
rs1553536007
|
|
NM_001130987.2(DYSF):c.1494-1G>A
|
rs398123768
|
|
NM_001130987.2(DYSF):c.1529_1530del (p.Thr510fs)
|
rs2152766936
|
|
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)
|
|
|
NM_001130987.2(DYSF):c.1530del (p.Tyr511fs)
|
rs786205632
|
|
NM_001130987.2(DYSF):c.1536_1539del (p.Ser513fs)
|
rs774402454
|
|
NM_001130987.2(DYSF):c.1544C>A (p.Ser515Ter)
|
rs139258703
|
|
NM_001130987.2(DYSF):c.1576+1del
|
rs1553537332
|
|
NM_001130987.2(DYSF):c.1577-1655C>G
|
rs886044410
|
|
NM_001130987.2(DYSF):c.1577-21_1586delinsGGCTT
|
|
|
NM_001130987.2(DYSF):c.157T>A (p.Trp53Arg)
|
rs1553508863
|
|
NM_001130987.2(DYSF):c.1595del (p.Phe532fs)
|
|
|
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
|
|
|
NM_001130987.2(DYSF):c.159G>A (p.Trp53Ter)
|
rs886042641
|
|
NM_001130987.2(DYSF):c.1609G>T (p.Gly537Trp)
|
|
|
NM_001130987.2(DYSF):c.1617C>A (p.Cys539Ter)
|
rs2090909751
|
|
NM_001130987.2(DYSF):c.1625del (p.Asn542fs)
|
rs2152786967
|
|
NM_001130987.2(DYSF):c.1669del (p.Tyr557fs)
|
|
|
NM_001130987.2(DYSF):c.1686del (p.Gly563fs)
|
|
|
NM_001130987.2(DYSF):c.1722_1723insGTT (p.Leu574_Leu575insVal)
|
rs1446214240
|
|
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter)
|
rs886042633
|
|
NM_001130987.2(DYSF):c.1806+1G>T
|
|
|
NM_001130987.2(DYSF):c.1806+2T>G
|
rs2090962038
|
|
NM_001130987.2(DYSF):c.1807-2A>G
|
|
|
NM_001130987.2(DYSF):c.181del (p.Asp61fs)
|
|
|
NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs)
|
|
|
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.193G>T (p.Glu65Ter)
|
rs2082945195
|
|
NM_001130987.2(DYSF):c.1984+2T>A
|
|
|
NM_001130987.2(DYSF):c.1985-2del
|
rs774047700
|
|
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)
|
|
|
NM_001130987.2(DYSF):c.2009G>A (p.Trp670Ter)
|
rs2091142154
|
|
NM_001130987.2(DYSF):c.2039C>G (p.Ser680Ter)
|
rs2091144091
|
|
NM_001130987.2(DYSF):c.209T>G (p.Val70Gly)
|
rs886042878
|
|
NM_001130987.2(DYSF):c.2109+1G>C
|
rs2152792714
|
|
NM_001130987.2(DYSF):c.2110-1G>A
|
|
|
NM_001130987.2(DYSF):c.2217-1G>A
|
|
|
NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs)
|
|
|
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)
|
|
|
NM_001130987.2(DYSF):c.2253del (p.Thr752fs)
|
|
|
NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs)
|
|
|
NM_001130987.2(DYSF):c.2310dup (p.Glu771Ter)
|
|
|
NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs)
|
|
|
NM_001130987.2(DYSF):c.2351del (p.Pro784fs)
|
|
|
NM_001130987.2(DYSF):c.240-1G>A
|
rs1553518087
|
|
NM_001130987.2(DYSF):c.2409+1G>T
|
|
|
NM_001130987.2(DYSF):c.2410-2A>G
|
rs1242016118
|
|
NM_001130987.2(DYSF):c.247G>C (p.Gly83Arg)
|
|
|
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)
|
|
|
NM_001130987.2(DYSF):c.2563A>T (p.Lys855Ter)
|
rs2091951931
|
|
NM_001130987.2(DYSF):c.2568T>A (p.Tyr856Ter)
|
rs2092204417
|
|
NM_001130987.2(DYSF):c.2578A>T (p.Lys860Ter)
|
rs2092205152
|
|
NM_001130987.2(DYSF):c.2636C>A (p.Ser879Ter)
|
rs2092208616
|
|
NM_001130987.2(DYSF):c.2644G>T (p.Glu882Ter)
|
rs2092209337
|
|
NM_001130987.2(DYSF):c.2646_2647del (p.Lys883fs)
|
|
|
NM_001130987.2(DYSF):c.2650G>T (p.Glu884Ter)
|
rs2092210085
|
|
NM_001130987.2(DYSF):c.2674A>T (p.Lys892Ter)
|
rs2092211777
|
|
NM_001130987.2(DYSF):c.2695A>C (p.Thr899Pro)
|
|
|
NM_001130987.2(DYSF):c.2697+5G>A
|
rs2092213253
|
|
NM_001130987.2(DYSF):c.2697+5G>C
|
rs2092213253
|
|
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)
|
|
|
NM_001130987.2(DYSF):c.2807dup (p.Arg937fs)
|
|
|
NM_001130987.2(DYSF):c.2831G>A (p.Trp944Ter)
|
rs2152811441
|
|
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)
|
|
|
NM_001130987.2(DYSF):c.2844G>C (p.Trp948Cys)
|
rs727503910
|
|
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter)
|
rs2092231526
|
|
NM_001130987.2(DYSF):c.2864+1dup
|
|
|
NM_001130987.2(DYSF):c.2865-1G>A
|
rs2152813916
|
|
NM_001130987.2(DYSF):c.2865-2A>C
|
rs886043964
|
|
NM_001130987.2(DYSF):c.2930G>C (p.Arg977Pro)
|
rs752689148
|
|
NM_001130987.2(DYSF):c.2947del (p.Trp983fs)
|
|
|
NM_001130987.2(DYSF):c.2980-1G>C
|
rs2092340224
|
|
NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter)
|
rs2092340623
|
|
NM_001130987.2(DYSF):c.300del (p.Ser101fs)
|
|
|
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter)
|
rs763925689
|
|
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)
|
rs750028300
|
|
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)
|
|
|
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)
|
rs2092343409
|
|
NM_001130987.2(DYSF):c.3076G>C (p.Asp1026His)
|
|
|
NM_001130987.2(DYSF):c.3085+1G>A
|
rs1553555585
|
|
NM_001130987.2(DYSF):c.3085+1G>T
|
rs1553555585
|
|
NM_001130987.2(DYSF):c.3086-2A>G
|
rs2092361815
|
|
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)
|
|
|
NM_001130987.2(DYSF):c.3095A>G (p.Tyr1032Cys)
|
rs756328339
|
|
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs)
|
rs753711667
|
|
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
|
|
|
NM_001130987.2(DYSF):c.3148A>G (p.Lys1050Glu)
|
rs2092366383
|
|
NM_001130987.2(DYSF):c.3150G>C (p.Lys1050Asn)
|
|
|
NM_001130987.2(DYSF):c.3157_3158del (p.Tyr1053fs)
|
|
|
NM_001130987.2(DYSF):c.316del (p.Leu106fs)
|
|
|
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)
|
rs1553556116
|
|
NM_001130987.2(DYSF):c.3173_3177del (p.Arg1058fs)
|
|
|
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)
|
rs2092369130
|
|
NM_001130987.2(DYSF):c.3190C>A (p.Arg1064Ser)
|
|
|
NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs)
|
|
|
NM_001130987.2(DYSF):c.3216del (p.Ala1073fs)
|
|
|
NM_001130987.2(DYSF):c.321_322del (p.Asp108fs)
|
|
|
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter)
|
rs1666836481
|
|
NM_001130987.2(DYSF):c.3251del (p.Gly1084fs)
|
|
|
NM_001130987.2(DYSF):c.3251dup (p.Glu1085fs)
|
rs2152822956
|
|
NM_001130987.2(DYSF):c.3253G>T (p.Glu1085Ter)
|
rs1252415299
|
|
NM_001130987.2(DYSF):c.3260G>A (p.Trp1087Ter)
|
|
|
NM_001130987.2(DYSF):c.3270_3282del (p.Ser1091fs)
|
|
|
NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)
|
|
|
NM_001130987.2(DYSF):c.3369del (p.Pro1124fs)
|
|
|
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs)
|
rs398123780
|
|
NM_001130987.2(DYSF):c.3402+1G>A
|
|
|
NM_001130987.2(DYSF):c.3403-109_3436del
|
|
|
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
|
rs886042379
|
|
NM_001130987.2(DYSF):c.3433_3434dup (p.Met1146fs)
|
|
|
NM_001130987.2(DYSF):c.346-2A>C
|
|
|
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter)
|
rs2093222376
|
|
NM_001130987.2(DYSF):c.3571dup (p.Ser1191fs)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.3574+1G>A
|
rs2152843484
|
|
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)
|
rs2093464314
|
|
NM_001130987.2(DYSF):c.3666del (p.Phe1223fs)
|
|
|
NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs)
|
|
|
NM_001130987.2(DYSF):c.3672C>A (p.Tyr1224Ter)
|
rs143393575
|
|
NM_001130987.2(DYSF):c.3679G>T (p.Glu1227Ter)
|
rs773773555
|
|
NM_001130987.2(DYSF):c.3687del (p.Phe1229fs)
|
|
|
NM_001130987.2(DYSF):c.3737T>C (p.Leu1246Pro)
|
rs2152855991
|
|
NM_001130987.2(DYSF):c.3756del (p.Thr1251_Tyr1252insTer)
|
rs1574264671
|
|
NM_001130987.2(DYSF):c.3762del (p.Asp1255fs)
|
rs758107024
|
|
NM_001130987.2(DYSF):c.3812del (p.Pro1271fs)
|
|
|
NM_001130987.2(DYSF):c.3827del (p.Phe1276fs)
|
rs1553376558
|
|
NM_001130987.2(DYSF):c.3842dup (p.Ser1282fs)
|
|
|
NM_001130987.2(DYSF):c.3843_3858del (p.Gln1283fs)
|
rs1574277160
|
|
NM_001130987.2(DYSF):c.3856G>A (p.Gly1286Arg)
|
rs2093531900
|
|
NM_001130987.2(DYSF):c.3859dup (p.Glu1287fs)
|
rs779407815
|
|
NM_001130987.2(DYSF):c.3894_3895del (p.Lys1299fs)
|
rs1558584694
|
|
NM_001130987.2(DYSF):c.3894_3895dup (p.Lys1299fs)
|
|
|
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)
|
rs1462064763
|
|
NM_001130987.2(DYSF):c.3897+1G>A
|
rs1553376691
|
|
NM_001130987.2(DYSF):c.3898-1G>C
|
rs2152859973
|
|
NM_001130987.2(DYSF):c.3898-2A>C
|
rs989599402
|
|
NM_001130987.2(DYSF):c.3958-1G>A
|
|
|
NM_001130987.2(DYSF):c.3969del (p.Asp1324fs)
|
rs1553381945
|
|
NM_001130987.2(DYSF):c.3991C>T (p.Gln1331Ter)
|
rs1558613592
|
|
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)
|
|
|
NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)
|
|
|
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)
|
|
|
NM_001130987.2(DYSF):c.410del (p.Pro137fs)
|
rs886043342
|
|
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter)
|
rs1574340403
|
|
NM_001130987.2(DYSF):c.4179del (p.Lys1394fs)
|
rs1574340607
|
|
NM_001130987.2(DYSF):c.4193T>C (p.Phe1398Ser)
|
rs2093763492
|
|
NM_001130987.2(DYSF):c.4221+5del
|
rs1574341049
|
|
NM_001130987.2(DYSF):c.431del (p.Pro144fs)
|
|
|
NM_001130987.2(DYSF):c.4328dup (p.Glu1444fs)
|
|
|
NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs)
|
|
|
NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs)
|
|
|
NM_001130987.2(DYSF):c.4379_4382del (p.Gly1460fs)
|
|
|
NM_001130987.2(DYSF):c.4387+1G>T
|
rs2152877211
|
|
NM_001130987.2(DYSF):c.4387+2T>A
|
rs759939755
|
|
NM_001130987.2(DYSF):c.4387+2T>G
|
|
|
NM_001130987.2(DYSF):c.440del (p.Pro147fs)
|
rs2152728763
|
|
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
|
rs576130413
|
|
NM_001130987.2(DYSF):c.4528-2A>T
|
|
|
NM_001130987.2(DYSF):c.4528-2del
|
|
|
NM_001130987.2(DYSF):c.4528-5C>G
|
rs774448845
|
|
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)
|
|
|
NM_001130987.2(DYSF):c.4550G>A (p.Trp1517Ter)
|
|
|
NM_001130987.2(DYSF):c.4551G>A (p.Trp1517Ter)
|
rs766016391
|
|
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr)
|
rs398123788
|
|
NM_001130987.2(DYSF):c.4556A>T (p.Lys1519Ile)
|
|
|
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
|
|
|
NM_001130987.2(DYSF):c.460+2_460+3del
|
|
|
NM_001130987.2(DYSF):c.4626+1G>A
|
rs1558708492
|
|
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)
|
|
|
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.4755+1G>A
|
|
|
NM_001130987.2(DYSF):c.4756-1G>A
|
rs2152940909
|
|
NM_001130987.2(DYSF):c.4794dup (p.Ile1599fs)
|
rs2152940961
|
|
NM_001130987.2(DYSF):c.4822C>T (p.Gln1608Ter)
|
rs1573009747
|
|
NM_001130987.2(DYSF):c.4888C>T (p.Gln1630Ter)
|
rs2094828804
|
|
NM_001130987.2(DYSF):c.4911G>T (p.Lys1637Asn)
|
rs141704244
|
|
NM_001130987.2(DYSF):c.4923C>A (p.Tyr1641Ter)
|
|
|
NM_001130987.2(DYSF):c.4954del (p.Ser1652fs)
|
rs772270346
|
|
NM_001130987.2(DYSF):c.4980C>A (p.Cys1660Ter)
|
rs2094861411
|
|
NM_001130987.2(DYSF):c.4999G>T (p.Gly1667Ter)
|
rs868779799
|
|
NM_001130987.2(DYSF):c.5003+1249G>T
|
rs886042110
|
|
NM_001130987.2(DYSF):c.5004-2A>G
|
rs2094956322
|
|
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)
|
|
|
NM_001130987.2(DYSF):c.5060A>G (p.Tyr1687Cys)
|
rs1553412643
|
|
NM_001130987.2(DYSF):c.5086G>A (p.Glu1696Lys)
|
|
|
NM_001130987.2(DYSF):c.5135del (p.Lys1712fs)
|
rs1064797253
|
|
NM_001130987.2(DYSF):c.5139del (p.Phe1713fs)
|
rs1057519132
|
|
NM_001130987.2(DYSF):c.5149T>C (p.Cys1717Arg)
|
|
|
NM_001130987.2(DYSF):c.5150G>C (p.Cys1717Ser)
|
rs753279446
|
|
NM_001130987.2(DYSF):c.5161C>T (p.Gln1721Ter)
|
rs758992291
|
|
NM_001130987.2(DYSF):c.5167_5168del (p.Tyr1723fs)
|
|
|
NM_001130987.2(DYSF):c.5174+2T>C
|
rs1553412826
|
|
NM_001130987.2(DYSF):c.5174+5G>A
|
rs745891180
|
|
NM_001130987.2(DYSF):c.5174+5G>T
|
rs745891180
|
|
NM_001130987.2(DYSF):c.5175-2A>G
|
|
|
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)
|
|
|
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.5210C>G (p.Pro1737Arg)
|
rs776452710
|
|
NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs)
|
|
|
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter)
|
rs2094975129
|
|
NM_001130987.2(DYSF):c.5255del (p.Ala1752fs)
|
|
|
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)
|
|
|
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)
|
|
|
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)
|
|
|
NM_001130987.2(DYSF):c.5296G>T (p.Glu1766Ter)
|
rs2094975881
|
|
NM_001130987.2(DYSF):c.5308G>T (p.Glu1770Ter)
|
rs2094976185
|
|
NM_001130987.2(DYSF):c.5311G>T (p.Glu1771Ter)
|
rs762398889
|
|
NM_001130987.2(DYSF):c.5317+1G>A
|
rs773386253
|
|
NM_001130987.2(DYSF):c.5317G>T (p.Glu1773Ter)
|
rs2094976441
|
|
NM_001130987.2(DYSF):c.5413G>A (p.Glu1805Lys)
|
|
|
NM_001130987.2(DYSF):c.5420G>C (p.Arg1807Pro)
|
|
|
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)
|
|
|
NM_001130987.2(DYSF):c.5457+1G>A
|
rs1553414413
|
|
NM_001130987.2(DYSF):c.5458-2A>G
|
|
|
NM_001130987.2(DYSF):c.5531dup (p.Arg1845fs)
|
rs1553415211
|
|
NM_001130987.2(DYSF):c.5546+1G>A
|
rs398123793
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
NM_001130987.2(DYSF):c.5547-1G>C
|
rs1573094617
|
|
NM_001130987.2(DYSF):c.5547-2A>G
|
rs1238293747
|
|
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.5617A>T (p.Lys1873Ter)
|
rs2095073059
|
|
NM_001130987.2(DYSF):c.561del (p.Gly188fs)
|
|
|
NM_001130987.2(DYSF):c.5626G>C (p.Asp1876His)
|
|
|
NM_001130987.2(DYSF):c.5635G>A (p.Val1879Met)
|
rs886042880
|
|
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter)
|
rs1320752132
|
|
NM_001130987.2(DYSF):c.5642+2T>A
|
|
|
NM_001130987.2(DYSF):c.5642_5642+12del
|
|
|
NM_001130987.2(DYSF):c.5643-2A>C
|
|
|
NM_001130987.2(DYSF):c.5650del (p.Ile1884fs)
|
rs1553416039
|
|
NM_001130987.2(DYSF):c.5681A>T (p.Asp1894Val)
|
rs1553416071
|
|
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp)
|
rs1024524968
|
|
NM_001130987.2(DYSF):c.5718C>G (p.Phe1906Leu)
|
rs1233961202
|
|
NM_001130987.2(DYSF):c.5724dup (p.Arg1909fs)
|
|
|
NM_001130987.2(DYSF):c.5729T>C (p.Phe1910Ser)
|
rs2095084796
|
|
NM_001130987.2(DYSF):c.5746T>C (p.Tyr1916His)
|
rs762258343
|
|
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
|
|
|
NM_001130987.2(DYSF):c.5785-1G>C
|
rs751473506
|
|
NM_001130987.2(DYSF):c.5785-2A>C
|
rs2152961243
|
|
NM_001130987.2(DYSF):c.5785-7G>A
|
rs753861836
|
|
NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter)
|
rs1573138313
|
|
NM_001130987.2(DYSF):c.5858A>G (p.Asp1953Gly)
|
|
|
NM_001130987.2(DYSF):c.5861del (p.Lys1954fs)
|
|
|
NM_001130987.2(DYSF):c.5885-1G>A
|
|
|
NM_001130987.2(DYSF):c.5921C>T (p.Pro1974Leu)
|
rs1573176526
|
|
NM_001130987.2(DYSF):c.5993T>C (p.Leu1998Pro)
|
|
|
NM_001130987.2(DYSF):c.6019_6020insACACA (p.Trp2007fs)
|
|
|
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)
|
rs1057521141
|
|
NM_001130987.2(DYSF):c.6057dup (p.Leu2020fs)
|
rs2152967906
|
|
NM_001130987.2(DYSF):c.6061del (p.Ala2021fs)
|
|
|
NM_001130987.2(DYSF):c.6064-1G>C
|
rs886042636
|
|
NM_001130987.2(DYSF):c.6073del (p.Glu2025fs)
|
|
|
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)
|
rs2095289978
|
|
NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs)
|
|
|
NM_001130987.2(DYSF):c.6155del (p.Pro2052fs)
|
|
|
NM_001130987.2(DYSF):c.6173+1G>A
|
|
|
NM_001130987.2(DYSF):c.6173+2del
|
|
|
NM_001130987.2(DYSF):c.6173G>A (p.Arg2058Lys)
|
rs886042452
|
|
NM_001130987.2(DYSF):c.6174-2A>G
|
rs1451269647
|
|
NM_001130987.2(DYSF):c.6197G>A (p.Trp2066Ter)
|
|
|
NM_001130987.2(DYSF):c.6236G>A (p.Trp2079Ter)
|
rs2152971975
|
|
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter)
|
rs1553422709
|
|
NM_001130987.2(DYSF):c.6305T>G (p.Phe2102Cys)
|
|
|
NM_001130987.2(DYSF):c.6333del (p.Ala2111_Met2112insTer)
|
rs886043884
|
|
NM_001130987.2(DYSF):c.6335T>G (p.Met2112Arg)
|
|
|
NM_001130987.2(DYSF):c.640del (p.Ala214fs)
|
|
|
NM_001130987.2(DYSF):c.641del (p.Ala214fs)
|
|
|
NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs)
|
|
|
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)
|
|
|
NM_001130987.2(DYSF):c.701del (p.Arg234fs)
|
rs2152731932
|
|
NM_001130987.2(DYSF):c.727A>G (p.Lys243Glu)
|
rs786205525
|
|
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)
|
|
|
NM_001130987.2(DYSF):c.754_759+5del
|
rs1433612344
|
|
NM_001130987.2(DYSF):c.759G>C (p.Gln253His)
|
rs886044472
|
|
NM_001130987.2(DYSF):c.760-2A>G
|
|
|
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter)
|
rs759065714
|
|
NM_001130987.2(DYSF):c.796G>T (p.Gly266Trp)
|
rs1573657614
|
|
NM_001130987.2(DYSF):c.797G>C (p.Gly266Ala)
|
|
|
NM_001130987.2(DYSF):c.875C>G (p.Pro292Arg)
|
rs1559053603
|
|
NM_001130987.2(DYSF):c.875C>T (p.Pro292Leu)
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NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)
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rs794727851
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NM_001130987.2(DYSF):c.888+1G>A
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rs886044377
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NM_001130987.2(DYSF):c.92-1G>A
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rs786205524
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NM_001130987.2(DYSF):c.951+3_951+4del
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rs1573663867
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NM_001130987.2(DYSF):c.952-2A>G
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rs1553522730
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NM_001130987.2(DYSF):c.952-2_952-1del
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NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)
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rs398123807
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NM_001130987.2(DYSF):c.959A>T (p.Asp320Val)
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rs1553522751
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NM_001130987.2(DYSF):c.959dup (p.Asp320fs)
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NM_001130987.2(DYSF):c.982del (p.Ala328fs)
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NM_001130987.2(DYSF):c.991G>T (p.Gly331Trp)
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rs121908963
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NM_001130987.2(DYSF):c.994del (p.Glu332fs)
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NM_001130987.2(DYSF):c.997_1002+1delinsAAAA
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NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)
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rs727503909
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NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs)
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rs1553370437
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NM_003494.3(DYSF):c.[2643+1G>A];[3113G>A]
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NM_003494.3(DYSF):c.[2643+1G>A];[4577A>C]
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NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
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NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs)
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rs1553541329
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NM_003494.4(DYSF):c.1522+1G>A
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rs1473130799
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NM_003494.4(DYSF):c.1A>G (p.Met1Val)
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rs1259378167
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NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter)
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rs2080944539
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NM_003494.4(DYSF):c.2T>C (p.Met1Thr)
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rs1459713589
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NM_003494.4(DYSF):c.42_43del (p.Pro15fs)
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NM_003494.4(DYSF):c.66_69dup (p.Cys24fs)
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rs1553495983
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NM_003494.4(DYSF):c.88+1G>A
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NM_003494.4(DYSF):c.[1670T>C];[4701C>G]
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Single allele
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