NM_000334.4(SCN4A):c.1570A>G (p.Ser524Gly)
|
rs6504191
|
0.91477
|
NM_000091.5(COL4A3):c.1195C>T (p.Leu399=)
|
rs10205042
|
0.72668
|
NM_024649.5(BBS1):c.*7A>G
|
rs8432
|
0.66464
|
NM_000163.5(GHR):c.558A>G (p.Gly186=)
|
rs6179
|
0.64137
|
NM_000334.4(SCN4A):c.4126A>G (p.Asn1376Asp)
|
rs2058194
|
0.59717
|
NM_000083.3(CLCN1):c.1402-9C>T
|
rs2272252
|
0.44267
|
NM_000334.4(SCN4A):c.4869A>G (p.Thr1623=)
|
rs2070720
|
0.43390
|
NM_000163.5(GHR):c.1630A>C (p.Ile544Leu)
|
rs6180
|
0.42616
|
NM_018972.4(GDAP1):c.507T>G (p.Ser169=)
|
rs11554166
|
0.27295
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_024649.5(BBS1):c.724-8G>C
|
rs10896125
|
0.24158
|
NM_001130987.2(DYSF):c.5976A>C (p.Pro1992=)
|
rs17718530
|
0.23571
|
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys)
|
rs17612126
|
0.22387
|
NM_024649.5(BBS1):c.378G>A (p.Leu126=)
|
rs2298806
|
0.21158
|
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp)
|
rs2236654
|
0.20662
|
NM_002180.3(IGHMBP2):c.1554C>T (p.Val518=)
|
rs11228413
|
0.20651
|
NM_031885.5(BBS2):c.367A>G (p.Ile123Val)
|
rs11373
|
0.20545
|
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val)
|
rs10896380
|
0.19067
|
NM_024649.5(BBS1):c.1413C>T (p.Leu471=)
|
rs3816492
|
0.17957
|
NM_000334.4(SCN4A):c.4539C>A (p.Ile1513=)
|
rs56342400
|
0.16783
|
NM_000334.4(SCN4A):c.5478T>G (p.Thr1826=)
|
rs2227906
|
0.15916
|
NM_000091.5(COL4A3):c.976G>T (p.Asp326Tyr)
|
rs55703767
|
0.15364
|
NM_001083961.2(WDR62):c.186C>T (p.Leu62=)
|
rs11538454
|
0.14792
|
NM_001083961.2(WDR62):c.2271G>A (p.Leu757=)
|
rs61494900
|
0.14221
|
NM_001083961.2(WDR62):c.3468C>T (p.Leu1156=)
|
rs17851502
|
0.14024
|
NM_001083961.2(WDR62):c.1643-10C>T
|
rs4806263
|
0.14010
|
NM_001083961.2(WDR62):c.1470C>T (p.Asp490=)
|
rs45567532
|
0.13368
|
NM_000334.4(SCN4A):c.5403C>T (p.Ala1801=)
|
rs2227907
|
0.12581
|
NM_001077365.2(POMT1):c.699+53=
|
rs2296949
|
0.11752
|
NM_001077365.2(POMT1):c.1047= (p.Asp349=)
|
rs3739494
|
0.11727
|
NM_001077365.2(POMT1):c.876= (p.Thr292=)
|
rs10901065
|
0.11723
|
NM_000091.5(COL4A3):c.1452G>A (p.Gly484=)
|
rs34019152
|
0.07474
|
NM_000091.5(COL4A3):c.1223G>A (p.Arg408His)
|
rs34505188
|
0.06909
|
NM_024685.4(BBS10):c.1616C>T (p.Pro539Leu)
|
rs35676114
|
0.05430
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
NM_000070.3(CAPN3):c.2380+12del
|
rs28364538
|
0.04623
|
NM_000337.6(SGCD):c.290G>A (p.Arg97Gln)
|
rs45559835
|
0.04292
|
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
|
rs4740164
|
0.04243
|
NM_001083961.2(WDR62):c.180G>A (p.Val60=)
|
rs61742664
|
0.04216
|
NM_000334.4(SCN4A):c.366C>T (p.Arg122=)
|
rs41280108
|
0.04121
|
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu)
|
rs11243406
|
0.04069
|
NM_000334.4(SCN4A):c.1167T>C (p.Tyr389=)
|
rs16947296
|
0.03818
|
NM_001083961.2(WDR62):c.4123G>A (p.Gly1375Ser)
|
rs17851503
|
0.03516
|
NM_001083961.2(WDR62):c.3401T>G (p.Met1134Arg)
|
rs61741470
|
0.03313
|
NM_001083961.2(WDR62):c.3639C>T (p.Ser1213=)
|
rs45470992
|
0.03038
|
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys)
|
rs80109666
|
0.02845
|
NM_000092.5(COL4A4):c.948T>C (p.Tyr316=)
|
rs34509421
|
0.02777
|
NM_000091.5(COL4A3):c.4041C>A (p.Asp1347Glu)
|
rs73996414
|
0.02579
|
NM_000092.5(COL4A4):c.4041A>G (p.Leu1347=)
|
rs16823077
|
0.02492
|
NM_000092.5(COL4A4):c.1781A>G (p.Glu594Gly)
|
rs35998949
|
0.02275
|
NM_004004.6(GJB2):c.79G>A (p.Val27Ile)
|
rs2274084
|
0.02218
|
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln)
|
rs77298332
|
0.02147
|
NM_000091.5(COL4A3):c.399G>A (p.Gly133=)
|
rs75683214
|
0.02133
|
NM_000334.4(SCN4A):c.2989+5G>A
|
rs115695396
|
0.02066
|
NM_001077365.2(POMT1):c.1275A>G (p.Glu425=)
|
rs62620174
|
0.02004
|
NM_000092.5(COL4A4):c.2899A>G (p.Ile967Val)
|
rs80243096
|
0.01747
|
NM_024301.5(FKRP):c.192C>T (p.Pro64=)
|
rs111754012
|
0.01474
|
NM_000334.4(SCN4A):c.2289C>T (p.Ile763=)
|
rs76894284
|
0.01359
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
NM_000163.5(GHR):c.1735C>A (p.Pro579Thr)
|
rs6184
|
0.01120
|
NM_024301.5(FKRP):c.585C>T (p.Asp195=)
|
rs75079578
|
0.01080
|
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)
|
rs187401185
|
0.00343
|
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)
|
rs41280110
|
0.00232
|
NM_000334.4(SCN4A):c.1100+7G>A
|
rs200770684
|
0.00212
|
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser)
|
rs201148948
|
0.00134
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000070.3(CAPN3):c.2393C>A (p.Ala798Glu)
|
rs149095128
|
0.00018
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_000070.3(CAPN3):c.499-1G>A
|
rs863224964
|
0.00006
|
NM_213599.3(ANO5):c.41-1G>A
|
rs398124625
|
0.00006
|
NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)
|
rs863224959
|
0.00004
|
NM_213599.3(ANO5):c.1210C>T (p.Arg404Ter)
|
rs566415362
|
0.00004
|
NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter)
|
rs863224960
|
0.00003
|
NM_213599.3(ANO5):c.762+1G>A
|
rs372221490
|
0.00003
|
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys)
|
rs758647756
|
0.00002
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro)
|
rs758795961
|
0.00002
|
NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr)
|
rs774048743
|
0.00001
|
NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)
|
rs121434544
|
0.00001
|
NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)
|
rs762471207
|
0.00001
|
NM_001130987.2(DYSF):c.1888C>T (p.Gln630Ter)
|
rs746873768
|
0.00001
|
NM_001130987.2(DYSF):c.356del (p.Val119fs)
|
rs398123782
|
0.00001
|
NM_018972.4(GDAP1):c.373C>T (p.Arg125Ter)
|
rs745663149
|
0.00001
|
NM_000070.3(CAPN3):c.146G>A (p.Arg49His)
|
rs863224958
|
|
NM_000070.3(CAPN3):c.1992+1G>T
|
rs863224961
|
|
NM_000070.3(CAPN3):c.2381-2A>G
|
rs863224962
|
|
NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)
|
rs863224966
|
|
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg)
|
rs13424243
|
|
NM_001083961.2(WDR62):c.1641G>A (p.Thr547=)
|
rs2301734
|
|
NM_001130987.2(DYSF):c.1263_1276+1dup
|
rs863225019
|
|
NM_001130987.2(DYSF):c.1906G>C (p.Gly636Arg)
|
rs201049092
|
|
NM_001130987.2(DYSF):c.3166C>T (p.Arg1056Ter)
|
rs369607332
|
|
NM_001130987.2(DYSF):c.3570_3571del (p.Phe1190_Ser1191insTer)
|
rs766341386
|
|
NM_001130987.2(DYSF):c.5546G>A (p.Arg1849Lys)
|
rs786205084
|
|
NM_001130987.2(DYSF):c.5953_5956del (p.Gln1985fs)
|
rs398123797
|
|
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp)
|
rs28937903
|
|
NM_024301.5(FKRP):c.941C>T (p.Thr314Met)
|
rs398124395
|
|
NM_213599.3(ANO5):c.989dup (p.Leu330fs)
|
rs398124626
|
|