NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
NM_001130987.2(DYSF):c.3125C>T (p.Pro1042Leu)
|
rs372880553
|
0.00025
|
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
|
0.00007
|
NM_001130987.2(DYSF):c.853C>T (p.Arg285Trp)
|
rs149827237
|
0.00005
|
NM_001130987.2(DYSF):c.3169C>T (p.Arg1057Trp)
|
rs760443264
|
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.1261G>A (p.Glu421Lys)
|
rs778673716
|
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.1717C>T (p.Arg573Trp)
|
rs377735262
|
0.00001
|
NM_001130987.2(DYSF):c.1906G>A (p.Gly636Arg)
|
rs201049092
|
0.00001
|
NM_001130987.2(DYSF):c.1985-1G>T
|
rs2091139939
|
0.00001
|
NM_001130987.2(DYSF):c.2864+1G>A
|
rs199954546
|
0.00001
|
NM_001130987.2(DYSF):c.3028T>C (p.Trp1010Arg)
|
rs750028300
|
0.00001
|
NM_001130987.2(DYSF):c.3051G>T (p.Trp1017Cys)
|
rs28937581
|
0.00001
|
NM_001130987.2(DYSF):c.3391G>T (p.Glu1131Ter)
|
rs1231906656
|
0.00001
|
NM_001130987.2(DYSF):c.4387+2T>C
|
rs759939755
|
0.00001
|
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
|
rs576130413
|
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.4755+1G>A
|
rs754039882
|
0.00001
|
NM_001130987.2(DYSF):c.4989del (p.Glu1663fs)
|
rs1156805286
|
0.00001
|
NM_001130987.2(DYSF):c.5188C>T (p.Gln1730Ter)
|
rs1476505138
|
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.5626G>A (p.Asp1876Asn)
|
rs398123794
|
0.00001
|
NM_001130987.2(DYSF):c.5784+1G>A
|
rs909564120
|
0.00001
|
NM_001130987.2(DYSF):c.5842C>T (p.Gln1948Ter)
|
rs1573138313
|
0.00001
|
NM_001130987.2(DYSF):c.5885-1G>C
|
rs771257070
|
0.00001
|
NM_001130987.2(DYSF):c.6025C>T (p.Pro2009Ser)
|
rs1057521141
|
0.00001
|
NM_001130987.2(DYSF):c.889-2A>G
|
rs934428561
|
0.00001
|
NM_003494.4(DYSF):c.24T>G (p.Tyr8Ter)
|
rs2080944539
|
0.00001
|
NM_001130987.1(DYSF):c.3105dup(p.Ile1036Hisfs)
|
rs756118312
|
|
NM_001130987.2(DYSF):c.1002+1G>A
|
rs2545428157
|
|
NM_001130987.2(DYSF):c.1002+4A>G
|
rs905322985
|
|
NM_001130987.2(DYSF):c.1067C>G (p.Ser356Ter)
|
rs1289536335
|
|
NM_001130987.2(DYSF):c.1110_1117dup (p.Leu373fs)
|
|
|
NM_001130987.2(DYSF):c.1116C>G (p.Ser372Arg)
|
rs766891289
|
|
NM_001130987.2(DYSF):c.1141G>T (p.Glu381Ter)
|
rs1301200599
|
|
NM_001130987.2(DYSF):c.1149+1G>C
|
rs398123763
|
|
NM_001130987.2(DYSF):c.1149+3G>C
|
rs1573704236
|
|
NM_001130987.2(DYSF):c.1150-2A>G
|
|
|
NM_001130987.2(DYSF):c.1171G>T (p.Glu391Ter)
|
rs2545491750
|
|
NM_001130987.2(DYSF):c.118A>T (p.Lys40Ter)
|
rs2082829594
|
|
NM_001130987.2(DYSF):c.1192del (p.Ser398fs)
|
rs2087887269
|
|
NM_001130987.2(DYSF):c.1234delinsAGGAAATGTTA (p.His412delinsArgLysCysTer)
|
rs2545492351
|
|
NM_001130987.2(DYSF):c.1264_1276+1dup
|
rs746745779
|
|
NM_001130987.2(DYSF):c.1268T>A (p.Leu423Ter)
|
rs2087900330
|
|
NM_001130987.2(DYSF):c.1272_1276+3dup
|
rs1559080091
|
|
NM_001130987.2(DYSF):c.1274_1276+4dup
|
rs768425085
|
|
NM_001130987.2(DYSF):c.1276+5G>C
|
rs766433603
|
|
NM_001130987.2(DYSF):c.1426C>T (p.Gln476Ter)
|
rs2089169741
|
|
NM_001130987.2(DYSF):c.1449+1G>A
|
rs1553535902
|
|
NM_001130987.2(DYSF):c.1475_1477del (p.Arg492del)
|
rs2152761340
|
|
NM_001130987.2(DYSF):c.1493+1G>T
|
|
|
NM_001130987.2(DYSF):c.1494-1G>C
|
rs398123768
|
|
NM_001130987.2(DYSF):c.1530_1531del (p.Tyr511fs)
|
rs2545584373
|
|
NM_001130987.2(DYSF):c.1577-1655C>G
|
rs886044410
|
|
NM_001130987.2(DYSF):c.1577-21_1586delinsGGCTT
|
rs2545668182
|
|
NM_001130987.2(DYSF):c.1595del (p.Phe532fs)
|
rs2545668446
|
|
NM_001130987.2(DYSF):c.1597del (p.Leu533fs)
|
rs2545668456
|
|
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)
|
rs2545668961
|
|
NM_001130987.2(DYSF):c.1686del (p.Gly563fs)
|
rs2545669126
|
|
NM_001130987.2(DYSF):c.1762C>T (p.Gln588Ter)
|
rs886042633
|
|
NM_001130987.2(DYSF):c.1806+1G>T
|
rs1216569807
|
|
NM_001130987.2(DYSF):c.1806+2T>A
|
|
|
NM_001130987.2(DYSF):c.1807-2A>G
|
rs2545685225
|
|
NM_001130987.2(DYSF):c.181del (p.Asp61fs)
|
rs2467184232
|
|
NM_001130987.2(DYSF):c.1852_1853del (p.Ala619fs)
|
rs2545685563
|
|
NM_001130987.2(DYSF):c.1902C>A (p.Ser634Arg)
|
rs1573943032
|
|
NM_001130987.2(DYSF):c.1914C>G (p.Tyr638Ter)
|
rs35721373
|
|
NM_001130987.2(DYSF):c.193G>T (p.Glu65Ter)
|
rs2082945195
|
|
NM_001130987.2(DYSF):c.1984+1G>A
|
|
|
NM_001130987.2(DYSF):c.1984+2T>A
|
rs2152791033
|
|
NM_001130987.2(DYSF):c.1995C>A (p.Tyr665Ter)
|
rs2545694520
|
|
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.2110-1G>A
|
rs1228463747
|
|
NM_001130987.2(DYSF):c.2203del (p.Ile735fs)
|
|
|
NM_001130987.2(DYSF):c.2217-1G>A
|
rs886044379
|
|
NM_001130987.2(DYSF):c.221del (p.Glu74fs)
|
|
|
NM_001130987.2(DYSF):c.2232_2233del (p.Ile745fs)
|
rs2545752835
|
|
NM_001130987.2(DYSF):c.2239G>T (p.Glu747Ter)
|
rs369209261
|
|
NM_001130987.2(DYSF):c.2253del (p.Thr752fs)
|
rs2545752931
|
|
NM_001130987.2(DYSF):c.2266C>T (p.Gln756Ter)
|
rs1172643225
|
|
NM_001130987.2(DYSF):c.2274_2275del (p.Tyr759fs)
|
rs2545753088
|
|
NM_001130987.2(DYSF):c.2310dup (p.Glu771Ter)
|
rs2545753329
|
|
NM_001130987.2(DYSF):c.2343_2346del (p.Glu782fs)
|
rs2545753525
|
|
NM_001130987.2(DYSF):c.240-2del
|
|
|
NM_001130987.2(DYSF):c.2484dup (p.Ala829fs)
|
|
|
NM_001130987.2(DYSF):c.2530A>T (p.Lys844Ter)
|
rs2545770353
|
|
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.2628del (p.Phe876fs)
|
rs2545798028
|
|
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)
|
rs2545798157
|
|
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)
|
rs1574042462
|
|
NM_001130987.2(DYSF):c.2782A>T (p.Lys928Ter)
|
rs1324029651
|
|
NM_001130987.2(DYSF):c.2807dup (p.Arg937fs)
|
rs2545800105
|
|
NM_001130987.2(DYSF):c.2832G>A (p.Trp944Ter)
|
rs2545800359
|
|
NM_001130987.2(DYSF):c.2853T>A (p.Cys951Ter)
|
rs2092231526
|
|
NM_001130987.2(DYSF):c.2888del (p.Gly963fs)
|
rs2545814877
|
|
NM_001130987.2(DYSF):c.2947del (p.Trp983fs)
|
rs2545815337
|
|
NM_001130987.2(DYSF):c.2964del (p.Asp988fs)
|
rs2545815498
|
|
NM_001130987.2(DYSF):c.2986G>T (p.Glu996Ter)
|
rs2092340623
|
|
NM_001130987.2(DYSF):c.3013G>T (p.Glu1005Ter)
|
rs763925689
|
|
NM_001130987.2(DYSF):c.3031A>T (p.Lys1011Ter)
|
rs2545819541
|
|
NM_001130987.2(DYSF):c.3035G>A (p.Trp1012Ter)
|
rs2092343409
|
|
NM_001130987.2(DYSF):c.3085+1G>T
|
rs1553555585
|
|
NM_001130987.2(DYSF):c.3086-11_3105dup
|
|
|
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)
|
rs1424933941
|
|
NM_001130987.2(DYSF):c.3107dup (p.Glu1039fs)
|
|
|
NM_001130987.2(DYSF):c.3127A>T (p.Lys1043Ter)
|
|
|
NM_001130987.2(DYSF):c.3135G>A (p.Trp1045Ter)
|
rs2545823705
|
|
NM_001130987.2(DYSF):c.3157_3158del (p.Tyr1053fs)
|
rs2545823906
|
|
NM_001130987.2(DYSF):c.3164_3165del (p.His1055fs)
|
rs2545823922
|
|
NM_001130987.2(DYSF):c.316del (p.Leu106fs)
|
rs2545295422
|
|
NM_001130987.2(DYSF):c.3173_3177del (p.Arg1058fs)
|
rs2545824104
|
|
NM_001130987.2(DYSF):c.3179G>A (p.Trp1060Ter)
|
rs2092369130
|
|
NM_001130987.2(DYSF):c.320_329delinsATT (p.Leu107fs)
|
rs2545295522
|
|
NM_001130987.2(DYSF):c.3216del (p.Ala1073fs)
|
rs2545824574
|
|
NM_001130987.2(DYSF):c.321_322del (p.Asp108fs)
|
rs2545295529
|
|
NM_001130987.2(DYSF):c.3228+2T>C
|
rs2545824673
|
|
NM_001130987.2(DYSF):c.3241G>T (p.Glu1081Ter)
|
rs1666836481
|
|
NM_001130987.2(DYSF):c.3251del (p.Gly1084fs)
|
rs2152822956
|
|
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)
|
rs2545875669
|
|
NM_001130987.2(DYSF):c.3270_3282del (p.Ser1091fs)
|
rs2545875803
|
|
NM_001130987.2(DYSF):c.3332_3353dup (p.Glu1120fs)
|
|
|
NM_001130987.2(DYSF):c.3334T>C (p.Trp1112Arg)
|
rs2545876644
|
|
NM_001130987.2(DYSF):c.3369del (p.Pro1124fs)
|
rs2545877072
|
|
NM_001130987.2(DYSF):c.3381_3382del (p.Phe1128fs)
|
rs398123780
|
|
NM_001130987.2(DYSF):c.342del (p.Ala116fs)
|
rs886042379
|
|
NM_001130987.2(DYSF):c.3517del (p.Arg1173fs)
|
rs2093220811
|
|
NM_001130987.2(DYSF):c.3559A>T (p.Lys1187Ter)
|
rs2093222376
|
|
NM_001130987.2(DYSF):c.3575-1G>C
|
rs2093462674
|
|
NM_001130987.2(DYSF):c.3620_3621del (p.Val1207fs)
|
|
|
NM_001130987.2(DYSF):c.3651G>A (p.Trp1217Ter)
|
rs2093464314
|
|
NM_001130987.2(DYSF):c.3666del (p.Phe1223fs)
|
rs2546046402
|
|
NM_001130987.2(DYSF):c.3667_3673del (p.Phe1223fs)
|
rs2546046409
|
|
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.3812del (p.Pro1271fs)
|
rs2546061360
|
|
NM_001130987.2(DYSF):c.3842dup (p.Ser1282fs)
|
rs2093531358
|
|
NM_001130987.2(DYSF):c.3894_3895dup (p.Lys1299fs)
|
rs1558584694
|
|
NM_001130987.2(DYSF):c.3895A>T (p.Lys1299Ter)
|
rs1462064763
|
|
NM_001130987.2(DYSF):c.4053del (p.Ile1352fs)
|
rs2546126754
|
|
NM_001130987.2(DYSF):c.4078C>G (p.Arg1360Gly)
|
rs199870606
|
|
NM_001130987.2(DYSF):c.408_409delinsG (p.Pro137fs)
|
rs2545377069
|
|
NM_001130987.2(DYSF):c.410del (p.Pro137fs)
|
rs886043342
|
|
NM_001130987.2(DYSF):c.4153C>T (p.Gln1385Ter)
|
rs1574340403
|
|
NM_001130987.2(DYSF):c.431del (p.Pro144fs)
|
rs2545377387
|
|
NM_001130987.2(DYSF):c.4328dup (p.Glu1444fs)
|
rs2546143605
|
|
NM_001130987.2(DYSF):c.4347_4348insTTGA (p.Pro1450fs)
|
rs2546143826
|
|
NM_001130987.2(DYSF):c.4350del (p.Tyr1451fs)
|
rs2546143809
|
|
NM_001130987.2(DYSF):c.4379_4382del (p.Gly1460fs)
|
rs2546144322
|
|
NM_001130987.2(DYSF):c.4385dup (p.Asp1463fs)
|
|
|
NM_001130987.2(DYSF):c.4528-2del
|
rs1401992478
|
|
NM_001130987.2(DYSF):c.4528-5C>G
|
rs774448845
|
|
NM_001130987.2(DYSF):c.4538_4539del (p.Phe1513fs)
|
rs2546398160
|
|
NM_001130987.2(DYSF):c.4556A>C (p.Lys1519Thr)
|
rs398123788
|
|
NM_001130987.2(DYSF):c.4599C>G (p.Tyr1533Ter)
|
rs2546398668
|
|
NM_001130987.2(DYSF):c.460+2T>G
|
rs750356247
|
|
NM_001130987.2(DYSF):c.4643_4645delinsA (p.Leu1548fs)
|
rs2546474606
|
|
NM_001130987.2(DYSF):c.4670del (p.Leu1557fs)
|
rs1553408378
|
|
NM_001130987.2(DYSF):c.4683dup (p.Asn1562Ter)
|
|
|
NM_001130987.2(DYSF):c.4768del (p.Ile1590fs)
|
rs1179051248
|
|
NM_001130987.2(DYSF):c.4771del (p.Tyr1591fs)
|
rs2546493997
|
|
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)
|
rs376679461
|
|
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.5004-1G>A
|
rs886043170
|
|
NM_001130987.2(DYSF):c.5025_5053dup (p.Thr1685delinsIleCysLeuTrpArgArgThrTer)
|
rs2152950672
|
|
NM_001130987.2(DYSF):c.5047_5048del (p.Lys1683fs)
|
rs2546540168
|
|
NM_001130987.2(DYSF):c.5086G>A (p.Glu1696Lys)
|
rs368142107
|
|
NM_001130987.2(DYSF):c.5149T>C (p.Cys1717Arg)
|
rs766091136
|
|
NM_001130987.2(DYSF):c.5150G>A (p.Cys1717Tyr)
|
rs753279446
|
|
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)
|
rs2546541038
|
|
NM_001130987.2(DYSF):c.5174+2T>C
|
rs1553412826
|
|
NM_001130987.2(DYSF):c.5174+5G>A
|
rs745891180
|
|
NM_001130987.2(DYSF):c.5175-1G>A
|
rs2546546694
|
|
NM_001130987.2(DYSF):c.5193G>A (p.Trp1731Ter)
|
rs2546546851
|
|
NM_001130987.2(DYSF):c.5194C>T (p.Arg1732Trp)
|
rs863225021
|
|
NM_001130987.2(DYSF):c.5200del (p.Gln1734fs)
|
rs1558771348
|
|
NM_001130987.2(DYSF):c.5249_5250del (p.Val1750fs)
|
rs2546547388
|
|
NM_001130987.2(DYSF):c.5251A>T (p.Lys1751Ter)
|
rs2094975129
|
|
NM_001130987.2(DYSF):c.5255del (p.Ala1752fs)
|
rs2546547454
|
|
NM_001130987.2(DYSF):c.5265C>G (p.Tyr1755Ter)
|
rs2546547546
|
|
NM_001130987.2(DYSF):c.5265_5280del (p.Val1754_Tyr1755insTer)
|
rs2546547503
|
|
NM_001130987.2(DYSF):c.5293A>T (p.Lys1765Ter)
|
rs2094975847
|
|
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.5420G>C (p.Arg1807Pro)
|
rs148860301
|
|
NM_001130987.2(DYSF):c.5437del (p.Leu1813fs)
|
rs769873428
|
|
NM_001130987.2(DYSF):c.5458-2A>G
|
rs398123792
|
|
NM_001130987.2(DYSF):c.5546+2T>A
|
rs1553415233
|
|
NM_001130987.2(DYSF):c.5562T>A (p.Cys1854Ter)
|
rs2095071693
|
|
NM_001130987.2(DYSF):c.5617A>T (p.Lys1873Ter)
|
rs2095073059
|
|
NM_001130987.2(DYSF):c.561del (p.Gly188fs)
|
rs2545395225
|
|
NM_001130987.2(DYSF):c.5638A>T (p.Lys1880Ter)
|
rs1320752132
|
|
NM_001130987.2(DYSF):c.5642+1G>A
|
rs727503915
|
|
NM_001130987.2(DYSF):c.5642+2T>A
|
rs2546575776
|
|
NM_001130987.2(DYSF):c.5642_5642+12del
|
rs2546575717
|
|
NM_001130987.2(DYSF):c.5711G>A (p.Gly1904Asp)
|
rs1024524968
|
|
NM_001130987.2(DYSF):c.5758G>T (p.Glu1920Ter)
|
rs2546579917
|
|
NM_001130987.2(DYSF):c.5785-1G>C
|
rs751473506
|
|
NM_001130987.2(DYSF):c.5830_5843del (p.Arg1944fs)
|
rs2546606310
|
|
NM_001130987.2(DYSF):c.5861del (p.Lys1954fs)
|
rs2546606567
|
|
NM_001130987.2(DYSF):c.5975del (p.Pro1992fs)
|
|
|
NM_001130987.2(DYSF):c.6001C>T (p.Gln2001Ter)
|
rs1064794020
|
|
NM_001130987.2(DYSF):c.6002del (p.Gln2001fs)
|
|
|
NM_001130987.2(DYSF):c.6019_6020insACACA (p.Trp2007fs)
|
rs2546634485
|
|
NM_001130987.2(DYSF):c.6028T>C (p.Cys2010Arg)
|
rs1553420858
|
|
NM_001130987.2(DYSF):c.6057dup (p.Leu2020fs)
|
rs2152967906
|
|
NM_001130987.2(DYSF):c.6061del (p.Ala2021fs)
|
rs2546634674
|
|
NM_001130987.2(DYSF):c.6064-1G>C
|
rs886042636
|
|
NM_001130987.2(DYSF):c.6073del (p.Glu2025fs)
|
rs2546643711
|
|
NM_001130987.2(DYSF):c.6109G>T (p.Glu2037Ter)
|
rs2095289978
|
|
NM_001130987.2(DYSF):c.6140_6141del (p.Glu2047fs)
|
rs2546644050
|
|
NM_001130987.2(DYSF):c.6155del (p.Pro2052fs)
|
rs2546644089
|
|
NM_001130987.2(DYSF):c.6173+1G>A
|
rs1293857367
|
|
NM_001130987.2(DYSF):c.6251G>A (p.Trp2084Ter)
|
rs1553422709
|
|
NM_001130987.2(DYSF):c.6321+1G>C
|
rs2546653051
|
|
NM_001130987.2(DYSF):c.640del (p.Ala214fs)
|
rs2545396000
|
|
NM_001130987.2(DYSF):c.641del (p.Ala214fs)
|
rs2545396036
|
|
NM_001130987.2(DYSF):c.645_646delinsT (p.Thr216fs)
|
rs2545396065
|
|
NM_001130987.2(DYSF):c.697A>T (p.Lys233Ter)
|
rs2545396702
|
|
NM_001130987.2(DYSF):c.742A>T (p.Lys248Ter)
|
rs2545397244
|
|
NM_001130987.2(DYSF):c.754_759+5del
|
rs1433612344
|
|
NM_001130987.2(DYSF):c.757C>T (p.Gln253Ter)
|
rs886044381
|
|
NM_001130987.2(DYSF):c.760-2A>G
|
rs2086573243
|
|
NM_001130987.2(DYSF):c.778G>T (p.Glu260Ter)
|
rs759065714
|
|
NM_001130987.2(DYSF):c.855del (p.Ile286fs)
|
|
|
NM_001130987.2(DYSF):c.886G>T (p.Glu296Ter)
|
rs794727851
|
|
NM_001130987.2(DYSF):c.947del (p.Ile316fs)
|
rs2545420079
|
|
NM_001130987.2(DYSF):c.951+2T>C
|
rs886042590
|
|
NM_001130987.2(DYSF):c.959dup (p.Asp320fs)
|
rs1559057405
|
|
NM_001130987.2(DYSF):c.994del (p.Glu332fs)
|
rs2545427980
|
|
NM_001130987.2(DYSF):c.997_1002+1delinsAAAA
|
rs2545428060
|
|
NM_003494.3(DYSF):c.2779del (p.Ala927Leufs)
|
rs727503909
|
|
NM_003494.3(DYSF):c.3383dup (p.Met1128Ilefs)
|
rs1553370437
|
|
NM_003494.3(DYSF):c.[3516_3517delTT];[5078G>A]
|
|
|
NM_003494.4(DYSF):c.1521delinsAA (p.Asp507fs)
|
rs1553541329
|
|
NM_003494.4(DYSF):c.1522+1G>A
|
rs1473130799
|
|
NM_003494.4(DYSF):c.42_43del (p.Pro15fs)
|
rs2466863398
|
|
NM_003494.4(DYSF):c.60_61dup (p.Asp21fs)
|
|
|
NM_003494.4(DYSF):c.88+1G>A
|
rs2466864021
|
|