NM_015335.5(MED13L):c.2013-7C>T
|
rs199749418
|
0.12825
|
NM_005751.5(AKAP9):c.4693-10A>T
|
rs772968330
|
0.00678
|
NM_145054.5(CFAP52):c.458C>T (p.Ala153Val)
|
rs77839011
|
0.00442
|
NM_000218.3(KCNQ1):c.683+20T>C
|
rs184516288
|
0.00440
|
NM_145054.5(CFAP52):c.537-18T>G
|
rs200087214
|
0.00349
|
NM_145054.5(CFAP52):c.1772C>T (p.Thr591Ile)
|
rs112783393
|
0.00257
|
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr)
|
rs187194973
|
0.00252
|
NM_145054.5(CFAP52):c.788G>A (p.Gly263Asp)
|
rs139646620
|
0.00230
|
NM_000238.4(KCNH2):c.558C>T (p.Gly186=)
|
rs139533994
|
0.00228
|
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
|
rs56157422
|
0.00217
|
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr)
|
rs139872140
|
0.00207
|
NM_001148.6(ANK2):c.10901T>A (p.Val3634Asp)
|
rs66785829
|
0.00200
|
NM_003098.3(SNTA1):c.221C>T (p.Pro74Leu)
|
rs572545726
|
0.00198
|
NM_022114.4(PRDM16):c.2506G>A (p.Gly836Ser)
|
rs114204766
|
0.00168
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val)
|
rs115372595
|
0.00144
|
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys)
|
rs61757671
|
0.00142
|
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu)
|
rs142401936
|
0.00137
|
NM_022114.4(PRDM16):c.49G>A (p.Val17Ile)
|
rs183153140
|
0.00137
|
NM_015335.5(MED13L):c.4522C>T (p.His1508Tyr)
|
rs75575870
|
0.00136
|
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=)
|
rs200799870
|
0.00134
|
NM_145054.5(CFAP52):c.214A>G (p.Ile72Val)
|
rs112544398
|
0.00129
|
NM_145020.5(CFAP53):c.194A>G (p.Glu65Gly)
|
rs200684225
|
0.00126
|
NM_022114.4(PRDM16):c.2290G>A (p.Val764Met)
|
rs149333409
|
0.00117
|
NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp)
|
rs199972068
|
0.00117
|
NM_005751.5(AKAP9):c.288G>T (p.Glu96Asp)
|
rs34953651
|
0.00112
|
NM_001148.6(ANK2):c.11725T>C (p.Ser3909Pro)
|
rs141124755
|
0.00100
|
NM_145054.5(CFAP52):c.1613G>C (p.Arg538Thr)
|
rs140641061
|
0.00099
|
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp)
|
rs121912706
|
0.00094
|
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn)
|
rs144875383
|
0.00093
|
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met)
|
rs75813654
|
0.00091
|
NM_005257.6(GATA6):c.1375G>A (p.Ala459Thr)
|
rs151176879
|
0.00091
|
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln)
|
rs138842207
|
0.00090
|
NM_005751.5(AKAP9):c.10664A>T (p.Asp3555Val)
|
rs139046510
|
0.00089
|
NM_001148.6(ANK2):c.11524C>T (p.Arg3842Trp)
|
rs139797180
|
0.00088
|
NM_033337.3(CAV3):c.40G>A (p.Val14Ile)
|
rs121909281
|
0.00088
|
NM_005257.6(GATA6):c.533C>T (p.Ala178Val)
|
rs387906815
|
0.00087
|
NM_145020.5(CFAP53):c.124C>T (p.Arg42Cys)
|
rs138060809
|
0.00087
|
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)
|
rs72544141
|
0.00085
|
NM_018055.5(NODAL):c.916C>T (p.His306Tyr)
|
rs148708629
|
0.00085
|
NM_005751.5(AKAP9):c.5369T>G (p.Val1790Gly)
|
rs151021935
|
0.00082
|
NM_001148.6(ANK2):c.7397G>A (p.Arg2466His)
|
rs142078935
|
0.00081
|
NM_005751.5(AKAP9):c.1651A>G (p.Ile551Val)
|
rs140664656
|
0.00081
|
NM_022114.4(PRDM16):c.2296G>A (p.Gly766Ser)
|
rs199998420
|
0.00081
|
NM_005751.5(AKAP9):c.9127G>A (p.Ala3043Thr)
|
rs138390702
|
0.00080
|
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser)
|
rs41314354
|
0.00079
|
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn)
|
rs121912705
|
0.00077
|
NM_018055.5(NODAL):c.545C>T (p.Pro182Leu)
|
rs143239895
|
0.00076
|
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)
|
rs201090446
|
0.00074
|
NM_005751.5(AKAP9):c.7166A>G (p.Asp2389Gly)
|
rs140782750
|
0.00074
|
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln)
|
rs104893904
|
0.00073
|
NM_001148.6(ANK2):c.669+3A>G
|
rs370475820
|
0.00072
|
NM_022114.4(PRDM16):c.3154G>A (p.Ala1052Thr)
|
rs113879347
|
0.00072
|
NM_004387.4(NKX2-5):c.124G>C (p.Ala42Pro)
|
rs113818864
|
0.00071
|
NM_001148.6(ANK2):c.11493G>T (p.Glu3831Asp)
|
rs144046572
|
0.00070
|
NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly)
|
rs73226383
|
0.00070
|
NM_005257.6(GATA6):c.592C>G (p.Leu198Val)
|
rs387906814
|
0.00068
|
NM_001148.6(ANK2):c.11459G>A (p.Arg3820Gln)
|
rs138085317
|
0.00067
|
NM_001276345.2(TNNT2):c.98-81G>A
|
rs45576939
|
0.00067
|
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn)
|
rs141724500
|
0.00067
|
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr)
|
rs201756421
|
0.00066
|
NM_005751.5(AKAP9):c.2581T>C (p.Tyr861His)
|
rs61757557
|
0.00066
|
NM_001148.6(ANK2):c.6206G>A (p.Arg2069His)
|
rs149645600
|
0.00065
|
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His)
|
rs61757663
|
0.00065
|
NM_005751.5(AKAP9):c.4342A>G (p.Ile1448Val)
|
rs150379637
|
0.00065
|
NM_001148.6(ANK2):c.8979A>G (p.Ile2993Met)
|
rs112252825
|
0.00064
|
NM_172201.2(KCNE2):c.317C>T (p.Ser106Leu)
|
rs183427173
|
0.00064
|
NM_000719.7(CACNA1C):c.5451C>T (p.His1817=)
|
rs113239186
|
0.00063
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
NM_000218.3(KCNQ1):c.1799C>T (p.Thr600Met)
|
rs34516117
|
0.00062
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr)
|
rs150016098
|
0.00061
|
NM_145054.5(CFAP52):c.936G>A (p.Ser312=)
|
rs146057434
|
0.00061
|
NM_005257.6(GATA6):c.855G>T (p.Ala285=)
|
rs1014349671
|
0.00060
|
NM_005751.5(AKAP9):c.10672A>G (p.Ile3558Val)
|
rs144054367
|
0.00060
|
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn)
|
rs191798831
|
0.00060
|
NM_015335.5(MED13L):c.2013-5T>C
|
rs372464585
|
0.00059
|
NM_022114.4(PRDM16):c.2691+12G>T
|
rs201371121
|
0.00059
|
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=)
|
rs183192651
|
0.00058
|
NM_001148.6(ANK2):c.6176C>T (p.Thr2059Met)
|
rs200765866
|
0.00058
|
NM_001148.6(ANK2):c.6912T>C (p.Thr2304=)
|
rs190680846
|
0.00058
|
NM_005751.5(AKAP9):c.4127G>C (p.Ser1376Thr)
|
rs144372406
|
0.00058
|
NM_022114.4(PRDM16):c.2603+6C>T
|
rs374549827
|
0.00058
|
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser)
|
rs375308440
|
0.00057
|
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_018055.5(NODAL):c.972G>A (p.Leu324=)
|
rs143903715
|
0.00056
|
NM_005751.5(AKAP9):c.10459G>A (p.Glu3487Lys)
|
rs61757664
|
0.00055
|
NM_022114.4(PRDM16):c.553A>G (p.Met185Val)
|
rs376567517
|
0.00053
|
NM_172201.2(KCNE2):c.40G>A (p.Val14Ile)
|
rs142153692
|
0.00053
|
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys)
|
rs149963885
|
0.00052
|
NM_015335.5(MED13L):c.1910G>A (p.Arg637His)
|
rs146499452
|
0.00052
|
NM_001148.6(ANK2):c.130C>G (p.Leu44Val)
|
rs145272651
|
0.00051
|
NM_001148.6(ANK2):c.9923C>G (p.Thr3308Ser)
|
rs145145511
|
0.00051
|
NM_005751.5(AKAP9):c.8975C>T (p.Ser2992Leu)
|
rs149341527
|
0.00051
|
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys)
|
rs150819707
|
0.00051
|
NM_022114.4(PRDM16):c.142G>A (p.Val48Met)
|
rs199968728
|
0.00051
|
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn)
|
rs144848998
|
0.00050
|
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=)
|
rs140019543
|
0.00049
|
NM_001148.6(ANK2):c.231G>A (p.Val77=)
|
rs149699185
|
0.00049
|
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)
|
rs140575619
|
0.00049
|
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly)
|
rs201492706
|
0.00048
|
NM_000719.7(CACNA1C):c.537C>T (p.Ile179=)
|
rs369673473
|
0.00048
|
NM_015335.5(MED13L):c.73-7T>C
|
rs199550041
|
0.00048
|
NM_022114.4(PRDM16):c.481A>G (p.Asn161Asp)
|
rs374664141
|
0.00048
|
NM_001386795.1(DTNA):c.955A>G (p.Met319Val)
|
rs141981161
|
0.00047
|
NM_174934.4(SCN4B):c.542T>C (p.Leu181Pro)
|
rs61065977
|
0.00047
|
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)
|
rs200754249
|
0.00046
|
NM_001148.6(ANK2):c.10289A>C (p.Glu3430Ala)
|
rs149574241
|
0.00046
|
NM_022114.4(PRDM16):c.3110-4G>A
|
rs201495178
|
0.00046
|
NM_022114.4(PRDM16):c.2741T>C (p.Met914Thr)
|
rs201304831
|
0.00045
|
NM_001308093.3(GATA4):c.348C>T (p.Ser116=)
|
rs772532276
|
0.00044
|
NM_003098.3(SNTA1):c.619C>T (p.Arg207Trp)
|
rs139537086
|
0.00044
|
NM_005751.5(AKAP9):c.883A>G (p.Thr295Ala)
|
rs149825027
|
0.00044
|
NM_015335.5(MED13L):c.5809A>C (p.Ile1937Leu)
|
rs143602183
|
0.00044
|
NM_005751.5(AKAP9):c.158A>G (p.His53Arg)
|
rs142125596
|
0.00043
|
NM_033337.3(CAV3):c.417C>T (p.Val139=)
|
rs147250678
|
0.00043
|
NM_000218.3(KCNQ1):c.105C>A (p.Pro35=)
|
rs968695655
|
0.00042
|
NM_000891.3(KCNJ2):c.1200G>A (p.Thr400=)
|
rs201253055
|
0.00042
|
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)
|
rs141069645
|
0.00042
|
NM_022114.4(PRDM16):c.342G>A (p.Val114=)
|
rs35186069
|
0.00042
|
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=)
|
rs189991547
|
0.00041
|
NM_015335.5(MED13L):c.4459C>A (p.Pro1487Thr)
|
rs146112707
|
0.00041
|
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu)
|
rs112709561
|
0.00041
|
NM_022114.4(PRDM16):c.2142G>A (p.Lys714=)
|
rs200167919
|
0.00041
|
NM_005159.5(ACTC1):c.219C>T (p.Ile73=)
|
rs376566924
|
0.00040
|
NM_005751.5(AKAP9):c.3430T>C (p.Cys1144Arg)
|
rs141039834
|
0.00040
|
NM_005751.5(AKAP9):c.4246-6A>T
|
rs192046591
|
0.00040
|
NM_003098.3(SNTA1):c.210G>C (p.Pro70=)
|
rs751651742
|
0.00039
|
NM_005257.6(GATA6):c.1723G>C (p.Ala575Pro)
|
rs149569288
|
0.00039
|
NM_005184.4(CALM3):c.183C>T (p.Asn61=)
|
rs3729761
|
0.00038
|
NM_000238.4(KCNH2):c.2900C>T (p.Pro967Leu)
|
rs199473016
|
0.00037
|
NM_000890.5(KCNJ5):c.273C>T (p.Leu91=)
|
rs146853795
|
0.00037
|
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn)
|
rs144880521
|
0.00037
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00036
|
NM_001148.6(ANK2):c.2727T>A (p.Thr909=)
|
rs144548535
|
0.00036
|
NM_001136271.3(NKX2-6):c.150G>T (p.Pro50=)
|
rs550727329
|
0.00035
|
NM_001148.6(ANK2):c.4123-19T>G
|
rs199938838
|
0.00035
|
NM_004821.3(HAND1):c.518G>T (p.Arg173Leu)
|
rs146912397
|
0.00035
|
NM_015335.5(MED13L):c.2703_2705dup (p.Pro901_Met902insIle)
|
rs556713164
|
0.00035
|
NM_015335.5(MED13L):c.3214G>A (p.Val1072Ile)
|
rs142907547
|
0.00035
|
NM_000890.5(KCNJ5):c.825C>A (p.Ile275=)
|
rs113012271
|
0.00034
|
NM_001308093.3(GATA4):c.531C>A (p.Ala177=)
|
rs573733348
|
0.00034
|
NM_005751.5(AKAP9):c.4163C>T (p.Ser1388Leu)
|
rs143565222
|
0.00034
|
NM_006888.6(CALM1):c.69T>C (p.Asp23=)
|
rs144339242
|
0.00034
|
NM_015335.5(MED13L):c.1877C>T (p.Pro626Leu)
|
rs186297695
|
0.00034
|
NM_022114.4(PRDM16):c.1632C>T (p.Asp544=)
|
rs199499877
|
0.00034
|
NM_022114.4(PRDM16):c.1726G>A (p.Glu576Lys)
|
rs201517929
|
0.00034
|
NM_022114.4(PRDM16):c.2187C>G (p.Phe729Leu)
|
rs200109766
|
0.00033
|
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg)
|
rs200588235
|
0.00032
|
NM_001148.6(ANK2):c.867C>T (p.Gly289=)
|
rs113692517
|
0.00032
|
NM_001148.6(ANK2):c.8727C>T (p.Pro2909=)
|
rs144821187
|
0.00032
|
NM_005257.6(GATA6):c.352C>T (p.Leu118Phe)
|
rs368297251
|
0.00032
|
NM_005257.6(GATA6):c.62C>G (p.Ala21Gly)
|
rs139666654
|
0.00032
|
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu)
|
rs113890513
|
0.00032
|
NM_022114.4(PRDM16):c.488C>T (p.Ala163Val)
|
rs201182055
|
0.00032
|
NM_145020.5(CFAP53):c.1125G>A (p.Lys375=)
|
rs372566333
|
0.00032
|
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=)
|
rs202194703
|
0.00031
|
NM_005751.5(AKAP9):c.1099G>A (p.Val367Met)
|
rs138161478
|
0.00031
|
NM_022114.4(PRDM16):c.2394C>T (p.Gly798=)
|
rs374283575
|
0.00031
|
NM_174934.4(SCN4B):c.607G>A (p.Val203Met)
|
rs150312046
|
0.00031
|
NM_001148.6(ANK2):c.1386+18C>A
|
rs374858404
|
0.00030
|
NM_001148.6(ANK2):c.5371G>A (p.Val1791Ile)
|
rs148921195
|
0.00030
|
NM_001386795.1(DTNA):c.51G>A (p.Gln17=)
|
rs368000651
|
0.00030
|
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=)
|
rs72549418
|
0.00029
|
NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=)
|
rs371473271
|
0.00029
|
NM_000719.7(CACNA1C):c.5149G>A (p.Ala1717Thr)
|
rs200865354
|
0.00029
|
NM_001148.6(ANK2):c.10881T>G (p.His3627Gln)
|
rs148405740
|
0.00029
|
NM_001308093.3(GATA4):c.786+8C>T
|
rs371709162
|
0.00029
|
NM_001308093.3(GATA4):c.802G>A (p.Val268Met)
|
rs116781972
|
0.00029
|
NM_021005.4(NR2F2):c.129C>G (p.Pro43=)
|
rs551936462
|
0.00029
|
NM_022114.4(PRDM16):c.885-4G>A
|
rs374365034
|
0.00029
|
NM_000238.4(KCNH2):c.2730G>A (p.Pro910=)
|
rs916754925
|
0.00028
|
NM_001148.6(ANK2):c.7254C>T (p.Ser2418=)
|
rs369910938
|
0.00028
|
NM_005751.5(AKAP9):c.7208A>G (p.Glu2403Gly)
|
rs150102469
|
0.00028
|
NM_000219.6(KCNE1):c.374C>T (p.Thr125Met)
|
rs142511345
|
0.00027
|
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=)
|
rs200847105
|
0.00027
|
NM_001308094.2(GATA4):c.-6+2500T>C
|
rs372004083
|
0.00027
|
NM_000218.3(KCNQ1):c.386+14C>T
|
rs370023636
|
0.00026
|
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)
|
rs138498207
|
0.00026
|
NM_000719.7(CACNA1C):c.5885G>A (p.Arg1962Gln)
|
rs199776761
|
0.00026
|
NM_000890.5(KCNJ5):c.1158G>C (p.Leu386=)
|
rs141325005
|
0.00026
|
NM_001106.4(ACVR2B):c.1477C>T (p.Leu493Phe)
|
rs150752796
|
0.00026
|
NM_001148.6(ANK2):c.7707A>G (p.Ala2569=)
|
rs144407821
|
0.00026
|
NM_004387.4(NKX2-5):c.632C>T (p.Pro211Leu)
|
rs3729754
|
0.00026
|
NM_005751.5(AKAP9):c.4826G>A (p.Arg1609Lys)
|
rs148146011
|
0.00026
|
NM_005751.5(AKAP9):c.9444G>A (p.Thr3148=)
|
rs148799606
|
0.00026
|
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=)
|
rs141633456
|
0.00025
|
NM_000719.7(CACNA1C):c.618G>A (p.Gly206=)
|
rs200602896
|
0.00025
|
NM_000890.5(KCNJ5):c.122G>A (p.Arg41His)
|
rs139073333
|
0.00025
|
NM_001308093.3(GATA4):c.616+15G>A
|
rs767068839
|
0.00025
|
NM_001386795.1(DTNA):c.1404G>A (p.Ala468=)
|
rs144776465
|
0.00025
|
NM_005257.6(GATA6):c.849G>A (p.Ala283=)
|
rs1000153828
|
0.00025
|
NM_005751.5(AKAP9):c.3952+14A>G
|
rs147955593
|
0.00025
|
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met)
|
rs199473648
|
0.00025
|
NM_172201.2(KCNE2):c.80G>A (p.Arg27His)
|
rs148968498
|
0.00025
|
NM_174934.4(SCN4B):c.194A>T (p.His65Leu)
|
rs112363898
|
0.00025
|
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser)
|
rs199472820
|
0.00024
|
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln)
|
rs373335068
|
0.00024
|
NM_000719.7(CACNA1C):c.5975G>T (p.Cys1992Phe)
|
rs375818733
|
0.00024
|
NM_005751.5(AKAP9):c.577-14C>G
|
rs377559109
|
0.00024
|
NM_005751.5(AKAP9):c.971T>C (p.Ile324Thr)
|
rs367857951
|
0.00024
|
NM_015335.5(MED13L):c.5502C>T (p.His1834=)
|
rs200440551
|
0.00024
|
NM_015335.5(MED13L):c.5732-3C>T
|
rs370245982
|
0.00024
|
NM_174934.4(SCN4B):c.235-7C>T
|
rs377621220
|
0.00024
|
NM_000238.4(KCNH2):c.697G>T (p.Ala233Ser)
|
rs772037564
|
0.00023
|
NM_001148.6(ANK2):c.286-7A>G
|
rs371664490
|
0.00023
|
NM_001148.6(ANK2):c.2868C>T (p.Asn956=)
|
rs145960256
|
0.00023
|
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)
|
rs34591340
|
0.00023
|
NM_001148.6(ANK2):c.741C>T (p.Asn247=)
|
rs190102899
|
0.00023
|
NM_004387.4(NKX2-5):c.852C>G (p.Ala284=)
|
rs374150672
|
0.00023
|
NM_006888.6(CALM1):c.285+20G>T
|
rs185096080
|
0.00023
|
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu)
|
rs200187663
|
0.00023
|
NM_015335.5(MED13L):c.4853C>G (p.Thr1618Ser)
|
rs150339628
|
0.00023
|
NM_000238.4(KCNH2):c.1946-9C>T
|
rs367997739
|
0.00022
|
NM_000238.4(KCNH2):c.2398+16C>T
|
rs201873431
|
0.00022
|
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly)
|
rs76649554
|
0.00022
|
NM_001148.6(ANK2):c.10531C>T (p.Leu3511=)
|
rs148462839
|
0.00022
|
NM_001148.6(ANK2):c.2424C>T (p.Ser808=)
|
rs150598396
|
0.00022
|
NM_001308093.3(GATA4):c.72C>G (p.Gly24=)
|
rs746574040
|
0.00022
|
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=)
|
rs145023222
|
0.00022
|
NM_005257.6(GATA6):c.183G>A (p.Gly61=)
|
rs377217497
|
0.00022
|
NM_022114.4(PRDM16):c.1033-17G>T
|
rs374947232
|
0.00022
|
NM_022114.4(PRDM16):c.3498C>T (p.Ala1166=)
|
rs368383914
|
0.00022
|
NM_022114.4(PRDM16):c.438+15C>T
|
rs182265560
|
0.00022
|
NM_022114.4(PRDM16):c.884+13C>G
|
rs377312275
|
0.00022
|
NM_145054.5(CFAP52):c.138A>G (p.Thr46=)
|
rs376343886
|
0.00022
|
NM_000238.4(KCNH2):c.2965+18C>T
|
rs751311800
|
0.00021
|
NM_000238.4(KCNH2):c.441C>T (p.His147=)
|
rs143479939
|
0.00021
|
NM_000719.7(CACNA1C):c.3946-12G>A
|
rs41276706
|
0.00021
|
NM_000890.5(KCNJ5):c.645G>A (p.Leu215=)
|
rs147245544
|
0.00021
|
NM_001148.6(ANK2):c.8388G>A (p.Pro2796=)
|
rs369684289
|
0.00021
|
NM_001148.6(ANK2):c.997C>T (p.Leu333=)
|
rs201024064
|
0.00021
|
NM_005257.6(GATA6):c.627C>A (p.Gly209=)
|
rs1051642564
|
0.00021
|
NM_005751.5(AKAP9):c.10518C>T (p.Thr3506=)
|
rs377663331
|
0.00021
|
NM_005751.5(AKAP9):c.11580T>G (p.Gly3860=)
|
rs756398963
|
0.00021
|
NM_022114.4(PRDM16):c.3109+9C>T
|
rs369808146
|
0.00021
|
NM_022114.4(PRDM16):c.646C>A (p.Pro216Thr)
|
rs368140002
|
0.00021
|
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=)
|
rs112170830
|
0.00020
|
NM_001148.6(ANK2):c.5240C>G (p.Pro1747Arg)
|
rs200628845
|
0.00020
|
NM_001148.6(ANK2):c.5523G>A (p.Arg1841=)
|
rs148234093
|
0.00020
|
NM_001386795.1(DTNA):c.126G>A (p.Arg42=)
|
rs376001633
|
0.00020
|
NM_001386795.1(DTNA):c.2283T>C (p.Asp761=)
|
rs187028045
|
0.00020
|
NM_005257.6(GATA6):c.1755A>C (p.Arg585=)
|
rs971615402
|
0.00020
|
NM_015335.5(MED13L):c.5559C>T (p.Thr1853=)
|
rs141451756
|
0.00020
|
NM_022114.4(PRDM16):c.2172G>A (p.Ala724=)
|
rs773130347
|
0.00020
|
NM_033337.3(CAV3):c.115-13G>C
|
rs368367319
|
0.00020
|
NM_000238.4(KCNH2):c.1923C>T (p.Ser641=)
|
rs142249065
|
0.00019
|
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=)
|
rs374857905
|
0.00019
|
NM_000719.7(CACNA1C):c.6018C>T (p.Ser2006=)
|
rs368817423
|
0.00019
|
NM_001148.6(ANK2):c.1638A>G (p.Ala546=)
|
rs372133055
|
0.00019
|
NM_001148.6(ANK2):c.385-6C>T
|
rs199939848
|
0.00019
|
NM_001148.6(ANK2):c.4311G>A (p.Thr1437=)
|
rs374770898
|
0.00019
|
NM_001308093.3(GATA4):c.1126G>A (p.Gly376Arg)
|
rs149872786
|
0.00019
|
NM_001308093.3(GATA4):c.585G>C (p.Arg195=)
|
rs1040398846
|
0.00019
|
NM_001386795.1(DTNA):c.1918T>C (p.Leu640=)
|
rs372620035
|
0.00019
|
NM_003098.3(SNTA1):c.1080C>T (p.Tyr360=)
|
rs141844806
|
0.00019
|
NM_003413.4(ZIC3):c.1194G>T (p.Thr398=)
|
rs143990850
|
0.00019
|
NM_005751.5(AKAP9):c.5601+17G>T
|
rs181593695
|
0.00019
|
NM_005751.5(AKAP9):c.5901G>A (p.Gln1967=)
|
rs574683571
|
0.00019
|
NM_005751.5(AKAP9):c.8161-7G>A
|
rs202218770
|
0.00019
|
NM_015335.5(MED13L):c.1316A>G (p.Asn439Ser)
|
rs189898124
|
0.00019
|
NM_015335.5(MED13L):c.201C>T (p.Asn67=)
|
rs144509091
|
0.00019
|
NM_015335.5(MED13L):c.4339-10A>G
|
rs376463996
|
0.00019
|
NM_021005.4(NR2F2):c.816C>G (p.Ala272=)
|
rs76163938
|
0.00019
|
NM_022114.4(PRDM16):c.1186+10C>T
|
rs368744559
|
0.00019
|
NM_033337.3(CAV3):c.306G>A (p.Ala102=)
|
rs149375325
|
0.00019
|
NM_172201.2(KCNE2):c.153G>T (p.Leu51=)
|
rs143767851
|
0.00019
|
NM_000219.6(KCNE1):c.118G>A (p.Gly40Ser)
|
rs778439872
|
0.00018
|
NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile)
|
rs201392574
|
0.00018
|
NM_001136271.3(NKX2-6):c.444G>A (p.Glu148=)
|
rs552633150
|
0.00018
|
NM_005257.6(GATA6):c.1663C>G (p.Pro555Ala)
|
rs146243018
|
0.00018
|
NM_022114.4(PRDM16):c.3051C>T (p.Phe1017=)
|
rs778222564
|
0.00018
|
NM_022114.4(PRDM16):c.456C>T (p.Gly152=)
|
rs576685798
|
0.00018
|
NM_000238.4(KCNH2):c.3321G>A (p.Ser1107=)
|
rs189457419
|
0.00017
|
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=)
|
rs368065584
|
0.00017
|
NM_000719.7(CACNA1C):c.4122C>T (p.Tyr1374=)
|
rs146868811
|
0.00017
|
NM_000890.5(KCNJ5):c.1123C>T (p.Arg375Trp)
|
rs142454198
|
0.00017
|
NM_001106.4(ACVR2B):c.1269G>A (p.Ser423=)
|
rs146067304
|
0.00017
|
NM_001308093.3(GATA4):c.1000+8A>G
|
rs368991642
|
0.00017
|
NM_005751.5(AKAP9):c.4148+18G>C
|
rs375733678
|
0.00017
|
NM_005751.5(AKAP9):c.5661A>G (p.Gln1887=)
|
rs368222299
|
0.00017
|
NM_015335.5(MED13L):c.969G>A (p.Met323Ile)
|
rs141207031
|
0.00017
|
NM_022114.4(PRDM16):c.252C>T (p.Phe84=)
|
rs370290776
|
0.00017
|
NM_022114.4(PRDM16):c.439-16G>A
|
rs374357486
|
0.00017
|
NM_022114.4(PRDM16):c.471C>T (p.Cys157=)
|
rs201912658
|
0.00017
|
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp)
|
rs140452381
|
0.00016
|
NM_000238.4(KCNH2):c.1558-18C>A
|
rs760047606
|
0.00016
|
NM_000238.4(KCNH2):c.432C>T (p.Asp144=)
|
rs369314508
|
0.00016
|
NM_000719.7(CACNA1C):c.4944G>A (p.Ala1648=)
|
rs200330326
|
0.00016
|
NM_000719.7(CACNA1C):c.4957-15C>T
|
rs766975739
|
0.00016
|
NM_000719.7(CACNA1C):c.5119G>A (p.Val1707Ile)
|
rs147896322
|
0.00016
|
NM_000719.7(CACNA1C):c.5143C>A (p.Arg1715=)
|
rs373996684
|
0.00016
|
NM_000719.7(CACNA1C):c.6344G>C (p.Gly2115Ala)
|
rs199694744
|
0.00016
|
NM_000890.5(KCNJ5):c.630G>A (p.Met210Ile)
|
rs138295501
|
0.00016
|
NM_001106.4(ACVR2B):c.960-19T>C
|
rs41285125
|
0.00016
|
NM_001148.6(ANK2):c.11032+19A>G
|
rs200769962
|
0.00016
|
NM_001148.6(ANK2):c.270G>T (p.Val90=)
|
rs376457094
|
0.00016
|
NM_001148.6(ANK2):c.4710C>T (p.Thr1570=)
|
rs554486974
|
0.00016
|
NM_001148.6(ANK2):c.7251T>C (p.Asp2417=)
|
rs201688836
|
0.00016
|
NM_001148.6(ANK2):c.792+8T>G
|
rs112086259
|
0.00016
|
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=)
|
rs397517443
|
0.00016
|
NM_005159.5(ACTC1):c.141G>T (p.Val47=)
|
rs1409682416
|
0.00016
|
NM_005751.5(AKAP9):c.10406C>T (p.Thr3469Met)
|
rs746860114
|
0.00016
|
NM_005751.5(AKAP9):c.5404G>A (p.Asp1802Asn)
|
rs142263098
|
0.00016
|
NM_018055.5(NODAL):c.531T>C (p.Ala177=)
|
rs145468639
|
0.00016
|
NM_022114.4(PRDM16):c.1578G>A (p.Pro526=)
|
rs376747653
|
0.00016
|
NM_033337.3(CAV3):c.144T>C (p.Pro48=)
|
rs149287333
|
0.00016
|
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro)
|
rs369438564
|
0.00015
|
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)
|
rs199473660
|
0.00015
|
NM_001106.4(ACVR2B):c.210C>T (p.Ile70=)
|
rs145456109
|
0.00015
|
NM_001148.6(ANK2):c.5577C>T (p.Pro1859=)
|
rs371557308
|
0.00015
|
NM_001308093.3(GATA4):c.1029C>T (p.Pro343=)
|
rs368098911
|
0.00015
|
NM_003098.3(SNTA1):c.1032C>T (p.Ile344=)
|
rs541665582
|
0.00015
|
NM_005751.5(AKAP9):c.9669T>C (p.Ala3223=)
|
rs139192857
|
0.00015
|
NM_015335.5(MED13L):c.878C>T (p.Pro293Leu)
|
rs537593859
|
0.00015
|
NM_022114.4(PRDM16):c.2748G>A (p.Ala916=)
|
rs370768364
|
0.00015
|
NM_022114.4(PRDM16):c.439-17C>T
|
rs370432632
|
0.00015
|
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=)
|
rs200669271
|
0.00014
|
NM_000219.6(KCNE1):c.325G>A (p.Val109Ile)
|
rs77442996
|
0.00014
|
NM_000719.7(CACNA1C):c.1114-416G>A
|
rs187604163
|
0.00014
|
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr)
|
rs752000790
|
0.00014
|
NM_000719.7(CACNA1C):c.35A>T (p.Glu12Val)
|
rs751212715
|
0.00014
|
NM_000719.7(CACNA1C):c.4075-4C>A
|
rs369044605
|
0.00014
|
NM_000719.7(CACNA1C):c.6006C>T (p.Gly2002=)
|
rs373253192
|
0.00014
|
NM_000891.3(KCNJ2):c.174C>T (p.Phe58=)
|
rs587781006
|
0.00014
|
NM_001106.4(ACVR2B):c.112C>T (p.Leu38=)
|
rs767336154
|
0.00014
|
NM_001148.6(ANK2):c.1077T>C (p.Asp359=)
|
rs368291932
|
0.00014
|
NM_001148.6(ANK2):c.2190A>T (p.Thr730=)
|
rs775084946
|
0.00014
|
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg)
|
rs371787039
|
0.00014
|
NM_001148.6(ANK2):c.4372-7C>T
|
rs370720661
|
0.00014
|
NM_001148.6(ANK2):c.5457G>A (p.Ala1819=)
|
rs138113206
|
0.00014
|
NM_001148.6(ANK2):c.7525C>T (p.Leu2509=)
|
rs199591964
|
0.00014
|
NM_001148.6(ANK2):c.8631A>T (p.Thr2877=)
|
rs374164682
|
0.00014
|
NM_005159.5(ACTC1):c.130-9T>C
|
rs147406641
|
0.00014
|
NM_005184.4(CALM3):c.309C>T (p.Ala103=)
|
rs200095251
|
0.00014
|
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)
|
rs387906816
|
0.00014
|
NM_005751.5(AKAP9):c.10221G>A (p.Glu3407=)
|
rs200711005
|
0.00014
|
NM_005751.5(AKAP9):c.4190A>G (p.Gln1397Arg)
|
rs139612565
|
0.00014
|
NM_005751.5(AKAP9):c.717G>A (p.Gln239=)
|
rs370346906
|
0.00014
|
NM_005751.5(AKAP9):c.7212C>T (p.Thr2404=)
|
rs146854871
|
0.00014
|
NM_005751.5(AKAP9):c.9537C>G (p.Leu3179=)
|
rs143138024
|
0.00014
|
NM_022114.4(PRDM16):c.1187-10G>C
|
rs201517837
|
0.00014
|
NM_022114.4(PRDM16):c.1815G>A (p.Glu605=)
|
rs566856228
|
0.00014
|
NM_022114.4(PRDM16):c.2154G>A (p.Ser718=)
|
rs781041726
|
0.00014
|
NM_022114.4(PRDM16):c.3675G>C (p.Leu1225=)
|
rs201038279
|
0.00014
|
NM_145054.5(CFAP52):c.243C>T (p.Ser81=)
|
rs373499244
|
0.00014
|
NM_000218.3(KCNQ1):c.111G>C (p.Ser37=)
|
rs750088311
|
0.00013
|
NM_000218.3(KCNQ1):c.759C>T (p.Ser253=)
|
rs752457145
|
0.00013
|
NM_000218.3(KCNQ1):c.820A>G (p.Ile274Val)
|
rs199472728
|
0.00013
|
NM_000219.6(KCNE1):c.8T>C (p.Leu3Pro)
|
rs567021150
|
0.00013
|
NM_000238.4(KCNH2):c.2692+7C>T
|
rs372023163
|
0.00013
|
NM_000238.4(KCNH2):c.473-7C>T
|
rs146570628
|
0.00013
|
NM_000719.7(CACNA1C):c.4829-8C>T
|
rs370969487
|
0.00013
|
NM_000719.7(CACNA1C):c.6034C>T (p.Arg2012Trp)
|
rs553500083
|
0.00013
|
NM_001136271.3(NKX2-6):c.468C>T (p.Tyr156=)
|
rs750361656
|
0.00013
|
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn)
|
rs199549660
|
0.00013
|
NM_001148.6(ANK2):c.7436A>G (p.Lys2479Arg)
|
rs201619005
|
0.00013
|
NM_001148.6(ANK2):c.85-4G>A
|
rs377576219
|
0.00013
|
NM_001148.6(ANK2):c.9060C>T (p.Ser3020=)
|
rs372511706
|
0.00013
|
NM_004387.4(NKX2-5):c.823C>A (p.Pro275Thr)
|
rs368366482
|
0.00013
|
NM_005751.5(AKAP9):c.3192A>G (p.Glu1064=)
|
rs375586792
|
0.00013
|
NM_006888.6(CALM1):c.324C>T (p.His108=)
|
rs139706811
|
0.00013
|
NM_015335.5(MED13L):c.3063C>T (p.Pro1021=)
|
rs142191700
|
0.00013
|
NM_022114.4(PRDM16):c.1033-10G>A
|
rs370090853
|
0.00013
|
NM_022114.4(PRDM16):c.1668G>A (p.Leu556=)
|
rs372910329
|
0.00013
|
NM_022114.4(PRDM16):c.884+7C>T
|
rs373228175
|
0.00013
|
NM_145054.5(CFAP52):c.1701T>C (p.His567=)
|
rs776124001
|
0.00013
|
NM_000238.4(KCNH2):c.3348G>A (p.Ala1116=)
|
rs376180501
|
0.00012
|
NM_000719.7(CACNA1C):c.3510G>A (p.Gln1170=)
|
rs372745326
|
0.00012
|
NM_001148.6(ANK2):c.3033C>T (p.Arg1011=)
|
rs142052072
|
0.00012
|
NM_001148.6(ANK2):c.8903T>C (p.Val2968Ala)
|
rs751095004
|
0.00012
|
NM_003098.3(SNTA1):c.1425+18del
|
rs746145193
|
0.00012
|
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=)
|
rs140261885
|
0.00012
|
NM_005257.6(GATA6):c.714A>C (p.Gly238=)
|
rs1000227951
|
0.00012
|
NM_005257.6(GATA6):c.735G>A (p.Gly245=)
|
rs1031755167
|
0.00012
|
NM_005751.5(AKAP9):c.2475T>G (p.Leu825=)
|
rs200078353
|
0.00012
|
NM_005751.5(AKAP9):c.5058+12T>G
|
rs373705132
|
0.00012
|
NM_005751.5(AKAP9):c.931-16A>T
|
rs527365987
|
0.00012
|
NM_006888.6(CALM1):c.3+13T>C
|
rs745827400
|
0.00012
|
NM_015335.5(MED13L):c.4989G>A (p.Thr1663=)
|
rs755349611
|
0.00012
|
NM_018055.5(NODAL):c.662G>A (p.Arg221Gln)
|
rs138681813
|
0.00012
|
NM_022114.4(PRDM16):c.21G>A (p.Ala7=)
|
rs370334235
|
0.00012
|
NM_022114.4(PRDM16):c.2426G>C (p.Ser809Thr)
|
rs765866896
|
0.00012
|
NM_022114.4(PRDM16):c.2797C>T (p.Arg933Trp)
|
rs371460126
|
0.00012
|
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=)
|
rs370676650
|
0.00011
|
NM_000238.4(KCNH2):c.1641G>A (p.Ala547=)
|
rs149902084
|
0.00011
|
NM_000238.4(KCNH2):c.2616C>T (p.Pro872=)
|
rs374296728
|
0.00011
|
NM_000719.7(CACNA1C):c.1508+15C>T
|
rs776362233
|
0.00011
|
NM_000719.7(CACNA1C):c.212C>T (p.Ala71Val)
|
rs755579963
|
0.00011
|
NM_000719.7(CACNA1C):c.4727-9G>A
|
rs757966245
|
0.00011
|
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr)
|
rs370432385
|
0.00011
|
NM_000890.5(KCNJ5):c.133G>A (p.Glu45Lys)
|
rs372447456
|
0.00011
|
NM_000891.3(KCNJ2):c.132G>A (p.Arg44=)
|
rs551369705
|
0.00011
|
NM_000891.3(KCNJ2):c.168T>C (p.Val56=)
|
rs370111593
|
0.00011
|
NM_001148.6(ANK2):c.4287A>G (p.Ser1429=)
|
rs72556369
|
0.00011
|
NM_001148.6(ANK2):c.609C>T (p.Asp203=)
|
rs946382221
|
0.00011
|
NM_001148.6(ANK2):c.7266C>T (p.Ser2422=)
|
rs150349588
|
0.00011
|
NM_001148.6(ANK2):c.7341T>C (p.Ser2447=)
|
rs138010625
|
0.00011
|
NM_001148.6(ANK2):c.792+15A>G
|
rs375914552
|
0.00011
|
NM_001148.6(ANK2):c.8144C>T (p.Ser2715Phe)
|
rs147619875
|
0.00011
|
NM_001148.6(ANK2):c.9690G>A (p.Thr3230=)
|
rs755430079
|
0.00011
|
NM_001276345.2(TNNT2):c.852-19C>T
|
rs759855940
|
0.00011
|
NM_001308093.3(GATA4):c.246C>A (p.Thr82=)
|
rs1037655842
|
0.00011
|
NM_003098.3(SNTA1):c.815C>T (p.Thr272Met)
|
rs144465646
|
0.00011
|
NM_005751.5(AKAP9):c.5532G>C (p.Leu1844=)
|
rs765888359
|
0.00011
|
NM_005751.5(AKAP9):c.5725G>A (p.Ala1909Thr)
|
rs200844952
|
0.00011
|
NM_005751.5(AKAP9):c.610G>A (p.Asp204Asn)
|
rs148920964
|
0.00011
|
NM_015335.5(MED13L):c.2292G>A (p.Pro764=)
|
rs754150111
|
0.00011
|
NM_015335.5(MED13L):c.3079G>A (p.Ala1027Thr)
|
rs757625355
|
0.00011
|
NM_015335.5(MED13L):c.5508G>A (p.Gln1836=)
|
rs150860907
|
0.00011
|
NM_015335.5(MED13L):c.5563G>A (p.Val1855Ile)
|
rs182752795
|
0.00011
|
NM_018055.5(NODAL):c.1020C>T (p.Ile340=)
|
rs142286836
|
0.00011
|
NM_022114.4(PRDM16):c.1545G>A (p.Pro515=)
|
rs34992735
|
0.00011
|
NM_022114.4(PRDM16):c.1709C>T (p.Thr570Met)
|
rs138655327
|
0.00011
|
NM_022114.4(PRDM16):c.1719G>A (p.Ala573=)
|
rs374254884
|
0.00011
|
NM_022114.4(PRDM16):c.3453C>T (p.Ala1151=)
|
rs966858972
|
0.00011
|
NM_022114.4(PRDM16):c.42C>T (p.Asp14=)
|
rs540560495
|
0.00011
|
NM_000218.3(KCNQ1):c.387-18C>T
|
rs377350869
|
0.00010
|
NM_000238.4(KCNH2):c.1881C>T (p.Phe627=)
|
rs199473039
|
0.00010
|
NM_000238.4(KCNH2):c.2681G>A (p.Arg894His)
|
rs199473668
|
0.00010
|
NM_000238.4(KCNH2):c.2739G>A (p.Ala913=)
|
rs776097223
|
0.00010
|
NM_000238.4(KCNH2):c.2769G>A (p.Pro923=)
|
rs557789224
|
0.00010
|
NM_000238.4(KCNH2):c.3390A>G (p.Glu1130=)
|
rs41313068
|
0.00010
|
NM_000238.4(KCNH2):c.777C>T (p.Asp259=)
|
rs887354896
|
0.00010
|
NM_000719.7(CACNA1C):c.1669+8G>A
|
rs762675533
|
0.00010
|
NM_000719.7(CACNA1C):c.1872G>A (p.Leu624=)
|
rs202227691
|
0.00010
|
NM_000719.7(CACNA1C):c.1953C>T (p.Ile651=)
|
rs762656408
|
0.00010
|
NM_000719.7(CACNA1C):c.2664-19T>C
|
rs760046431
|
0.00010
|
NM_000719.7(CACNA1C):c.4233-4C>T
|
rs769538757
|
0.00010
|
NM_000719.7(CACNA1C):c.4624-8G>A
|
rs529345041
|
0.00010
|
NM_000719.7(CACNA1C):c.477+14C>T
|
rs371836468
|
0.00010
|
NM_000719.7(CACNA1C):c.5022C>T (p.Thr1674=)
|
rs372300407
|
0.00010
|
NM_000719.7(CACNA1C):c.5717G>A (p.Arg1906Gln)
|
rs758166168
|
0.00010
|
NM_000891.3(KCNJ2):c.867C>T (p.Asn289=)
|
rs201909993
|
0.00010
|
NM_001106.4(ACVR2B):c.370+20G>T
|
rs370286614
|
0.00010
|
NM_001148.6(ANK2):c.10134C>T (p.Asp3378=)
|
rs549375755
|
0.00010
|
NM_001148.6(ANK2):c.1119G>A (p.Ala373=)
|
rs139123934
|
0.00010
|
NM_001148.6(ANK2):c.1899A>G (p.Leu633=)
|
rs377608305
|
0.00010
|
NM_001148.6(ANK2):c.8673C>T (p.Pro2891=)
|
rs374884110
|
0.00010
|
NM_001276345.2(TNNT2):c.852-23A>G
|
rs371692788
|
0.00010
|
NM_001308093.3(GATA4):c.1152G>A (p.Thr384=)
|
rs147958528
|
0.00010
|
NM_001308093.3(GATA4):c.15G>A (p.Leu5=)
|
rs55635838
|
0.00010
|
NM_004821.3(HAND1):c.252G>A (p.Arg84=)
|
rs576744103
|
0.00010
|
NM_005159.5(ACTC1):c.84G>T (p.Ala28=)
|
rs1008290796
|
0.00010
|
NM_005257.6(GATA6):c.237G>C (p.Leu79=)
|
rs772338637
|
0.00010
|
NM_005257.6(GATA6):c.726T>C (p.Ala242=)
|
rs1310939981
|
0.00010
|
NM_005751.5(AKAP9):c.126G>A (p.Thr42=)
|
rs186969744
|
0.00010
|
NM_005751.5(AKAP9):c.4800A>G (p.Glu1600=)
|
rs138765069
|
0.00010
|
NM_005751.5(AKAP9):c.8711-8T>C
|
rs367764105
|
0.00010
|
NM_015335.5(MED13L):c.1970A>T (p.Asp657Val)
|
rs775442091
|
0.00010
|
NM_015335.5(MED13L):c.2682A>G (p.Ala894=)
|
rs146390612
|
0.00010
|
NM_015335.5(MED13L):c.656C>T (p.Thr219Met)
|
rs191743300
|
0.00010
|
NM_022114.4(PRDM16):c.1953C>A (p.Gly651=)
|
rs780589589
|
0.00010
|
NM_022114.4(PRDM16):c.2223G>A (p.Thr741=)
|
rs756779855
|
0.00010
|
NM_022114.4(PRDM16):c.615G>A (p.Glu205=)
|
rs370059347
|
0.00010
|
NM_022114.4(PRDM16):c.714C>A (p.Leu238=)
|
rs371540074
|
0.00010
|
NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=)
|
rs144615901
|
0.00009
|
NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=)
|
rs200275211
|
0.00009
|
NM_000219.6(KCNE1):c.225C>T (p.Asn75=)
|
rs79175878
|
0.00009
|
NM_000238.4(KCNH2):c.1129-6G>T
|
rs555400904
|
0.00009
|
NM_000238.4(KCNH2):c.1284G>A (p.Ser428=)
|
rs371864051
|
0.00009
|
NM_000238.4(KCNH2):c.2145+9A>T
|
rs371749379
|
0.00009
|
NM_000238.4(KCNH2):c.3120C>T (p.Ser1040=)
|
rs543615478
|
0.00009
|
NM_000238.4(KCNH2):c.3203A>G (p.Gln1068Arg)
|
rs151031345
|
0.00009
|
NM_000719.7(CACNA1C):c.1114-291G>A
|
rs375370446
|
0.00009
|
NM_000719.7(CACNA1C):c.1332C>T (p.Ala444=)
|
rs202027411
|
0.00009
|
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=)
|
rs377643814
|
0.00009
|
NM_000719.7(CACNA1C):c.1509-12T>G
|
rs200412525
|
0.00009
|
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=)
|
rs201345843
|
0.00009
|
NM_000719.7(CACNA1C):c.3988C>T (p.Leu1330=)
|
rs1455874684
|
0.00009
|
NM_000719.7(CACNA1C):c.459C>T (p.Asn153=)
|
rs367638447
|
0.00009
|
NM_000719.7(CACNA1C):c.5092-16T>C
|
rs772454813
|
0.00009
|
NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly)
|
rs769297492
|
0.00009
|
NM_000719.7(CACNA1C):c.5550G>A (p.Glu1850=)
|
rs367783859
|
0.00009
|
NM_000719.7(CACNA1C):c.798C>T (p.Val266=)
|
rs758394964
|
0.00009
|
NM_000719.7(CACNA1C):c.906G>A (p.Glu302=)
|
rs367860917
|
0.00009
|
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=)
|
rs369079645
|
0.00009
|
NM_000890.5(KCNJ5):c.792C>T (p.Gly264=)
|
rs750600982
|
0.00009
|
NM_000891.3(KCNJ2):c.327C>T (p.Leu109=)
|
rs140274795
|
0.00009
|
NM_000891.3(KCNJ2):c.60G>A (p.Lys20=)
|
rs768120590
|
0.00009
|
NM_001148.6(ANK2):c.2127T>C (p.Asn709=)
|
rs113454484
|
0.00009
|
NM_001148.6(ANK2):c.2712C>T (p.Ser904=)
|
rs149310669
|
0.00009
|
NM_001148.6(ANK2):c.2796+17C>T
|
rs201815173
|
0.00009
|
NM_001148.6(ANK2):c.4146C>T (p.Tyr1382=)
|
rs761142483
|
0.00009
|
NM_001148.6(ANK2):c.5313G>A (p.Lys1771=)
|
rs140992864
|
0.00009
|
NM_001148.6(ANK2):c.5784A>C (p.Val1928=)
|
rs757420275
|
0.00009
|
NM_001148.6(ANK2):c.6641C>T (p.Pro2214Leu)
|
rs143469039
|
0.00009
|
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val)
|
rs141837529
|
0.00009
|
NM_001276345.2(TNNT2):c.720-4G>T
|
rs201753429
|
0.00009
|
NM_001276345.2(TNNT2):c.774C>T (p.Phe258=)
|
rs397516481
|
0.00009
|
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=)
|
rs376923877
|
0.00009
|
NM_001276345.2(TNNT2):c.98-186C>T
|
rs576888252
|
0.00009
|
NM_001308093.3(GATA4):c.1167G>A (p.Ala389=)
|
rs55968178
|
0.00009
|
NM_001308093.3(GATA4):c.867C>T (p.Gly289=)
|
rs781143539
|
0.00009
|
NM_003098.3(SNTA1):c.1377C>T (p.Asp459=)
|
rs146134721
|
0.00009
|
NM_003098.3(SNTA1):c.36G>C (p.Leu12=)
|
rs949722422
|
0.00009
|
NM_005159.5(ACTC1):c.246C>T (p.Asp82=)
|
rs373261583
|
0.00009
|
NM_005159.5(ACTC1):c.455-7C>T
|
rs768363857
|
0.00009
|
NM_005257.6(GATA6):c.1779C>T (p.Ala593=)
|
rs760578963
|
0.00009
|
NM_005751.5(AKAP9):c.11098-17C>T
|
rs752119071
|
0.00009
|
NM_005751.5(AKAP9):c.11364C>T (p.Val3788=)
|
rs142092767
|
0.00009
|
NM_005751.5(AKAP9):c.4259T>G (p.Phe1420Cys)
|
rs184184931
|
0.00009
|
NM_005751.5(AKAP9):c.6177A>G (p.Glu2059=)
|
rs752723636
|
0.00009
|
NM_005751.5(AKAP9):c.9689A>G (p.Lys3230Arg)
|
rs192845338
|
0.00009
|
NM_006888.6(CALM1):c.402C>T (p.Asp134=)
|
rs193072150
|
0.00009
|
NM_015335.5(MED13L):c.3935-12C>T
|
rs764151600
|
0.00009
|
NM_018055.5(NODAL):c.9C>T (p.Ala3=)
|
rs376002393
|
0.00009
|
NM_022114.4(PRDM16):c.1377G>A (p.Pro459=)
|
rs776479768
|
0.00009
|
NM_022114.4(PRDM16):c.1485G>A (p.Pro495=)
|
rs370666366
|
0.00009
|
NM_022114.4(PRDM16):c.1674G>A (p.Leu558=)
|
rs748822939
|
0.00009
|
NM_022114.4(PRDM16):c.2856G>A (p.Thr952=)
|
rs563342786
|
0.00009
|
NM_022114.4(PRDM16):c.573+9G>A
|
rs376759712
|
0.00009
|
NM_000218.3(KCNQ1):c.1323C>T (p.Pro441=)
|
rs145452045
|
0.00008
|
NM_000218.3(KCNQ1):c.387-7C>T
|
rs201682200
|
0.00008
|
NM_000218.3(KCNQ1):c.804C>T (p.Ile268=)
|
rs373227792
|
0.00008
|
NM_000238.4(KCNH2):c.1341C>T (p.Tyr447=)
|
rs367570298
|
0.00008
|
NM_000238.4(KCNH2):c.1437C>T (p.Asn479=)
|
rs188818227
|
0.00008
|
NM_000238.4(KCNH2):c.2904G>A (p.Pro968=)
|
rs75005975
|
0.00008
|
NM_000719.7(CACNA1C):c.5284G>C (p.Gly1762Arg)
|
rs374863121
|
0.00008
|
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=)
|
rs371831239
|
0.00008
|
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg)
|
rs199830292
|
0.00008
|
NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=)
|
rs768775204
|
0.00008
|
NM_001136271.3(NKX2-6):c.341A>G (p.Asn114Ser)
|
rs751485832
|
0.00008
|
NM_001148.6(ANK2):c.10983T>C (p.Ser3661=)
|
rs544195596
|
0.00008
|
NM_001148.6(ANK2):c.2796+18T>C
|
rs201393078
|
0.00008
|
NM_001148.6(ANK2):c.7131C>T (p.Asp2377=)
|
rs553324580
|
0.00008
|
NM_001148.6(ANK2):c.9639T>C (p.Pro3213=)
|
rs141830736
|
0.00008
|
NM_001308093.3(GATA4):c.106C>G (p.Pro36Ala)
|
rs1431477414
|
0.00008
|
NM_003098.3(SNTA1):c.129C>T (p.Ser43=)
|
rs956270311
|
0.00008
|
NM_003413.4(ZIC3):c.426C>T (p.Gly142=)
|
rs750150672
|
0.00008
|
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=)
|
rs149432225
|
0.00008
|
NM_005257.6(GATA6):c.1136-20_1136-16del
|
rs751625594
|
0.00008
|
NM_005751.5(AKAP9):c.3066A>G (p.Gly1022=)
|
rs372748115
|
0.00008
|
NM_005751.5(AKAP9):c.3953-15C>T
|
rs201879671
|
0.00008
|
NM_005751.5(AKAP9):c.5765-20C>G
|
rs368800819
|
0.00008
|
NM_005751.5(AKAP9):c.645A>G (p.Gln215=)
|
rs767167128
|
0.00008
|
NM_005751.5(AKAP9):c.931-10T>G
|
rs757310407
|
0.00008
|
NM_015335.5(MED13L):c.1308C>T (p.Val436=)
|
rs149631695
|
0.00008
|
NM_015335.5(MED13L):c.1564A>G (p.Ser522Gly)
|
rs201414612
|
0.00008
|
NM_022114.4(PRDM16):c.1614C>A (p.Pro538=)
|
rs375659212
|
0.00008
|
NM_022114.4(PRDM16):c.3153C>T (p.Ser1051=)
|
rs752378700
|
0.00008
|
NM_022114.4(PRDM16):c.451C>G (p.Leu151Val)
|
rs371021789
|
0.00008
|
NM_022114.4(PRDM16):c.706G>A (p.Asp236Asn)
|
rs185041492
|
0.00008
|
NM_033337.3(CAV3):c.444G>A (p.Arg148=)
|
rs376749605
|
0.00008
|
NM_000218.3(KCNQ1):c.1733-16G>A
|
rs374351635
|
0.00007
|
NM_000219.6(KCNE1):c.252C>T (p.Ser84=)
|
rs138884514
|
0.00007
|
NM_000219.6(KCNE1):c.29C>T (p.Thr10Met)
|
rs144917638
|
0.00007
|
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=)
|
rs745993706
|
0.00007
|
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)
|
rs199472864
|
0.00007
|
NM_000238.4(KCNH2):c.555G>A (p.Ala185=)
|
rs894519401
|
0.00007
|
NM_000238.4(KCNH2):c.720G>A (p.Pro240=)
|
rs899939755
|
0.00007
|
NM_000719.7(CACNA1C):c.135C>G (p.Thr45=)
|
rs749123185
|
0.00007
|
NM_000719.7(CACNA1C):c.1509-13G>C
|
rs746321738
|
0.00007
|
NM_000719.7(CACNA1C):c.2232A>C (p.Leu744=)
|
rs370145265
|
0.00007
|
NM_000719.7(CACNA1C):c.2530+19A>C
|
rs757560550
|
0.00007
|
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser)
|
rs145549773
|
0.00007
|
NM_000719.7(CACNA1C):c.2854-4G>A
|
rs113929946
|
0.00007
|
NM_000719.7(CACNA1C):c.3210-13C>A
|
rs762235690
|
0.00007
|
NM_000719.7(CACNA1C):c.3933C>T (p.Cys1311=)
|
rs199569953
|
0.00007
|
NM_000719.7(CACNA1C):c.4068C>T (p.Ser1356=)
|
rs765091519
|
0.00007
|
NM_000719.7(CACNA1C):c.570C>T (p.Tyr190=)
|
rs372770722
|
0.00007
|
NM_000719.7(CACNA1C):c.5729G>A (p.Arg1910Gln)
|
rs190288386
|
0.00007
|
NM_000719.7(CACNA1C):c.6011G>T (p.Gly2004Val)
|
rs374991642
|
0.00007
|
NM_000719.7(CACNA1C):c.6388G>A (p.Asp2130Asn)
|
rs199473392
|
0.00007
|
NM_000891.3(KCNJ2):c.1080C>T (p.Asp360=)
|
rs66476803
|
0.00007
|
NM_001148.6(ANK2):c.10322G>A (p.Arg3441Gln)
|
rs772954896
|
0.00007
|
NM_001148.6(ANK2):c.11523G>A (p.Pro3841=)
|
rs143290935
|
0.00007
|
NM_001148.6(ANK2):c.11683G>A (p.Val3895Met)
|
rs72556370
|
0.00007
|
NM_001148.6(ANK2):c.1422C>T (p.Ala474=)
|
rs151180821
|
0.00007
|
NM_001148.6(ANK2):c.3931G>A (p.Val1311Ile)
|
rs34065266
|
0.00007
|
NM_001308093.3(GATA4):c.13T>C (p.Leu5=)
|
rs55670878
|
0.00007
|
NM_001308093.3(GATA4):c.678C>T (p.Thr226=)
|
rs759042604
|
0.00007
|
NM_001386795.1(DTNA):c.1479C>T (p.Ile493=)
|
rs145061501
|
0.00007
|
NM_001386795.1(DTNA):c.1939G>T (p.Ala647Ser)
|
rs566869682
|
0.00007
|
NM_001386795.1(DTNA):c.229A>G (p.Asn77Asp)
|
rs147782267
|
0.00007
|
NM_001743.6(CALM2):c.178+12A>G
|
rs376209800
|
0.00007
|
NM_004821.3(HAND1):c.279C>T (p.Gly93=)
|
rs201302137
|
0.00007
|
NM_005159.5(ACTC1):c.465G>A (p.Leu155=)
|
rs397517062
|
0.00007
|
NM_005184.4(CALM3):c.237C>T (p.Asp79=)
|
rs147734536
|
0.00007
|
NM_005257.6(GATA6):c.123C>T (p.Ser41=)
|
rs762641247
|
0.00007
|
NM_005257.6(GATA6):c.151G>A (p.Glu51Lys)
|
rs770662152
|
0.00007
|
NM_005257.6(GATA6):c.372C>T (p.Ala124=)
|
rs532888783
|
0.00007
|
NM_005751.5(AKAP9):c.11235G>C (p.Gly3745=)
|
rs150138799
|
0.00007
|
NM_005751.5(AKAP9):c.11250G>A (p.Thr3750=)
|
rs138566065
|
0.00007
|
NM_005751.5(AKAP9):c.1446A>G (p.Thr482=)
|
rs374138966
|
0.00007
|
NM_005751.5(AKAP9):c.492G>A (p.Leu164=)
|
rs148852801
|
0.00007
|
NM_005751.5(AKAP9):c.5284A>G (p.Lys1762Glu)
|
rs568626378
|
0.00007
|
NM_005751.5(AKAP9):c.9141G>A (p.Thr3047=)
|
rs375897283
|
0.00007
|
NM_005751.5(AKAP9):c.9181C>T (p.Leu3061=)
|
rs775991910
|
0.00007
|
NM_018055.5(NODAL):c.281G>A (p.Arg94Gln)
|
rs146018217
|
0.00007
|
NM_021005.4(NR2F2):c.357G>C (p.Arg119=)
|
rs137861279
|
0.00007
|
NM_022114.4(PRDM16):c.1839C>T (p.Thr613=)
|
rs549179676
|
0.00007
|
NM_022114.4(PRDM16):c.2037C>T (p.Asp679=)
|
rs770781991
|
0.00007
|
NM_022114.4(PRDM16):c.2814G>A (p.Thr938=)
|
rs140540302
|
0.00007
|
NM_022114.4(PRDM16):c.3135G>A (p.Thr1045=)
|
rs761078027
|
0.00007
|
NM_033337.3(CAV3):c.204C>A (p.Ser68=)
|
rs116840775
|
0.00007
|
NM_174934.4(SCN4B):c.378G>A (p.Thr126=)
|
rs376627393
|
0.00007
|
NM_000218.3(KCNQ1):c.1129-9C>T
|
rs758945992
|
0.00006
|
NM_000218.3(KCNQ1):c.1514+19G>A
|
rs201932283
|
0.00006
|
NM_000218.3(KCNQ1):c.1596G>A (p.Ala532=)
|
rs558452873
|
0.00006
|
NM_000218.3(KCNQ1):c.1733-7C>G
|
rs367568223
|
0.00006
|
NM_000218.3(KCNQ1):c.1795-20G>A
|
rs547982653
|
0.00006
|
NM_000218.3(KCNQ1):c.1795-4G>A
|
rs769865006
|
0.00006
|
NM_000218.3(KCNQ1):c.1938C>T (p.Gly646=)
|
rs184844767
|
0.00006
|
NM_000218.3(KCNQ1):c.225T>C (p.Val75=)
|
rs367817352
|
0.00006
|
NM_000218.3(KCNQ1):c.351C>T (p.Pro117=)
|
rs764872490
|
0.00006
|
NM_000218.3(KCNQ1):c.683+16A>G
|
rs982822546
|
0.00006
|
NM_000218.3(KCNQ1):c.780+11C>T
|
rs201316912
|
0.00006
|
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=)
|
rs727504769
|
0.00006
|
NM_000218.3(KCNQ1):c.922-18C>T
|
rs750681207
|
0.00006
|
NM_000219.6(KCNE1):c.138C>T (p.Tyr46=)
|
rs758346045
|
0.00006
|
NM_000238.4(KCNH2):c.1053G>C (p.Ser351=)
|
rs766203252
|
0.00006
|
NM_000238.4(KCNH2):c.1683G>A (p.Ala561=)
|
rs140366118
|
0.00006
|
NM_000238.4(KCNH2):c.1839G>A (p.Thr613=)
|
rs146309583
|
0.00006
|
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys)
|
rs201627778
|
0.00006
|
NM_000238.4(KCNH2):c.2932G>A (p.Glu978Lys)
|
rs141117135
|
0.00006
|
NM_000238.4(KCNH2):c.3048C>T (p.Pro1016=)
|
rs770968269
|
0.00006
|
NM_000238.4(KCNH2):c.3090G>A (p.Pro1030=)
|
rs778604642
|
0.00006
|
NM_000238.4(KCNH2):c.3108C>T (p.Gly1036=)
|
rs373414022
|
0.00006
|
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)
|
rs199473544
|
0.00006
|
NM_000238.4(KCNH2):c.3153-13C>T
|
rs372337645
|
0.00006
|
NM_000238.4(KCNH2):c.342C>T (p.Pro114=)
|
rs532959204
|
0.00006
|
NM_000238.4(KCNH2):c.3465G>A (p.Ser1155=)
|
rs750145862
|
0.00006
|
NM_000719.7(CACNA1C):c.1524G>A (p.Arg508=)
|
rs377431864
|
0.00006
|
NM_000719.7(CACNA1C):c.1686C>T (p.Ala562=)
|
rs748256548
|
0.00006
|
NM_000719.7(CACNA1C):c.1896-18C>A
|
rs1056995890
|
0.00006
|
NM_000719.7(CACNA1C):c.2350C>T (p.Pro784Ser)
|
rs749935207
|
0.00006
|
NM_000719.7(CACNA1C):c.2362C>G (p.Gln788Glu)
|
rs751261669
|
0.00006
|
NM_000719.7(CACNA1C):c.2853+14C>T
|
rs374655072
|
0.00006
|
NM_000719.7(CACNA1C):c.3357-16C>A
|
rs201876309
|
0.00006
|
NM_000719.7(CACNA1C):c.4140+19C>T
|
rs374647461
|
0.00006
|
NM_000719.7(CACNA1C):c.4500C>A (p.Ile1500=)
|
rs752697651
|
0.00006
|
NM_000719.7(CACNA1C):c.4581A>G (p.Pro1527=)
|
rs367773879
|
0.00006
|
NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp)
|
rs113157354
|
0.00006
|
NM_000719.7(CACNA1C):c.5411T>C (p.Val1804Ala)
|
rs756492434
|
0.00006
|
NM_000719.7(CACNA1C):c.5423C>T (p.Ala1808Val)
|
rs745997744
|
0.00006
|
NM_000719.7(CACNA1C):c.5785-5C>T
|
rs750451768
|
0.00006
|
NM_000719.7(CACNA1C):c.6117+12G>A
|
rs768628781
|
0.00006
|
NM_000719.7(CACNA1C):c.6339C>T (p.Asp2113=)
|
rs374843203
|
0.00006
|
NM_000719.7(CACNA1C):c.859T>C (p.Leu287=)
|
rs570043167
|
0.00006
|
NM_000719.7(CACNA1C):c.898A>G (p.Asn300Asp)
|
rs200289321
|
0.00006
|
NM_000891.3(KCNJ2):c.366T>C (p.Cys122=)
|
rs748924113
|
0.00006
|
NM_000891.3(KCNJ2):c.51C>T (p.Asp17=)
|
rs141965142
|
0.00006
|
NM_001148.6(ANK2):c.10017G>A (p.Ala3339=)
|
rs774143296
|
0.00006
|
NM_001148.6(ANK2):c.11040G>A (p.Ser3680=)
|
rs72544142
|
0.00006
|
NM_001148.6(ANK2):c.11133C>T (p.Ile3711=)
|
rs142441044
|
0.00006
|
NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys)
|
rs143043717
|
0.00006
|
NM_001148.6(ANK2):c.11628A>G (p.Glu3876=)
|
rs376376716
|
0.00006
|
NM_001148.6(ANK2):c.1287+10T>C
|
rs751370687
|
0.00006
|
NM_001148.6(ANK2):c.1288-4G>A
|
rs780788513
|
0.00006
|
NM_001148.6(ANK2):c.1575G>A (p.Ala525=)
|
rs565952102
|
0.00006
|
NM_001148.6(ANK2):c.1869T>C (p.His623=)
|
rs761925962
|
0.00006
|
NM_001148.6(ANK2):c.1881+12A>C
|
rs763612449
|
0.00006
|
NM_001148.6(ANK2):c.2679A>G (p.Gly893=)
|
rs766183219
|
0.00006
|
NM_001148.6(ANK2):c.2900+15A>C
|
rs369903397
|
0.00006
|
NM_001148.6(ANK2):c.3807C>A (p.Thr1269=)
|
rs759239926
|
0.00006
|
NM_001148.6(ANK2):c.597C>T (p.Ala199=)
|
rs749414257
|
0.00006
|
NM_001148.6(ANK2):c.6033T>C (p.Phe2011=)
|
rs547380782
|
0.00006
|
NM_001148.6(ANK2):c.6102G>T (p.Gly2034=)
|
rs757998275
|
0.00006
|
NM_001148.6(ANK2):c.744G>A (p.Val248=)
|
rs201208094
|
0.00006
|
NM_001148.6(ANK2):c.7863T>C (p.Ser2621=)
|
rs377056824
|
0.00006
|
NM_001148.6(ANK2):c.8124A>G (p.Val2708=)
|
rs776586126
|
0.00006
|
NM_001148.6(ANK2):c.8324A>G (p.His2775Arg)
|
rs534934297
|
0.00006
|
NM_001148.6(ANK2):c.85-5C>T
|
rs372560419
|
0.00006
|
NM_001148.6(ANK2):c.9381A>G (p.Glu3127=)
|
rs544513087
|
0.00006
|
NM_001276345.2(TNNT2):c.114G>A (p.Ala38=)
|
rs200283086
|
0.00006
|
NM_001276345.2(TNNT2):c.430C>A (p.Arg144=)
|
rs45525839
|
0.00006
|
NM_001276345.2(TNNT2):c.489+18C>T
|
rs377743847
|
0.00006
|
NM_001276345.2(TNNT2):c.601-8C>T
|
rs397516475
|
0.00006
|
NM_001308093.3(GATA4):c.127C>A (p.Arg43=)
|
rs387906770
|
0.00006
|
NM_001308093.3(GATA4):c.330C>T (p.Phe110=)
|
rs779273192
|
0.00006
|
NM_001308093.3(GATA4):c.609C>T (p.Pro203=)
|
rs1210009123
|
0.00006
|
NM_001386795.1(DTNA):c.1532+16C>T
|
rs562514105
|
0.00006
|
NM_001386795.1(DTNA):c.1592C>T (p.Thr531Met)
|
rs199828427
|
0.00006
|
NM_001386795.1(DTNA):c.1593G>A (p.Thr531=)
|
rs748063105
|
0.00006
|
NM_001386795.1(DTNA):c.423A>G (p.Gly141=)
|
rs376651004
|
0.00006
|
NM_001386795.1(DTNA):c.448+10T>G
|
rs757645396
|
0.00006
|
NM_001386795.1(DTNA):c.603+15T>C
|
rs367772080
|
0.00006
|
NM_003098.3(SNTA1):c.1238-14T>C
|
rs369876616
|
0.00006
|
NM_003098.3(SNTA1):c.1281C>T (p.Ile427=)
|
rs761116006
|
0.00006
|
NM_003098.3(SNTA1):c.589C>T (p.Arg197Trp)
|
rs530603992
|
0.00006
|
NM_004387.4(NKX2-5):c.492G>C (p.Ser164=)
|
rs754229011
|
0.00006
|
NM_004387.4(NKX2-5):c.609G>A (p.Glu203=)
|
rs376792087
|
0.00006
|
NM_004821.3(HAND1):c.339A>G (p.Ala113=)
|
rs150104384
|
0.00006
|
NM_005159.5(ACTC1):c.129+18C>A
|
rs368977747
|
0.00006
|
NM_005159.5(ACTC1):c.717G>A (p.Glu239=)
|
rs369019849
|
0.00006
|
NM_005184.4(CALM3):c.444A>T (p.Ala148=)
|
rs779594484
|
0.00006
|
NM_005257.6(GATA6):c.408G>T (p.Leu136=)
|
rs546073071
|
0.00006
|
NM_005257.6(GATA6):c.660C>T (p.Gly220=)
|
rs1385756157
|
0.00006
|
NM_005257.6(GATA6):c.768G>A (p.Ala256=)
|
rs919012580
|
0.00006
|
NM_005751.5(AKAP9):c.1398G>A (p.Arg466=)
|
rs371085808
|
0.00006
|
NM_005751.5(AKAP9):c.261A>G (p.Leu87=)
|
rs150736347
|
0.00006
|
NM_005751.5(AKAP9):c.3752-10T>C
|
rs372028453
|
0.00006
|
NM_005751.5(AKAP9):c.4293G>A (p.Leu1431=)
|
rs151197146
|
0.00006
|
NM_005751.5(AKAP9):c.4917+14del
|
rs765796287
|
0.00006
|
NM_005751.5(AKAP9):c.6681A>G (p.Gln2227=)
|
rs745898364
|
0.00006
|
NM_005751.5(AKAP9):c.9730-7G>A
|
rs377255415
|
0.00006
|
NM_005751.5(AKAP9):c.9867A>G (p.Ser3289=)
|
rs61757675
|
0.00006
|
NM_006888.6(CALM1):c.72C>T (p.Gly24=)
|
rs267607278
|
0.00006
|
NM_015335.5(MED13L):c.2035C>T (p.Arg679Trp)
|
rs368437832
|
0.00006
|
NM_015335.5(MED13L):c.3354C>T (p.Ser1118=)
|
rs368878357
|
0.00006
|
NM_015335.5(MED13L):c.5115C>T (p.Arg1705=)
|
rs370324246
|
0.00006
|
NM_015335.5(MED13L):c.6348G>A (p.Ser2116=)
|
rs769874135
|
0.00006
|
NM_018055.5(NODAL):c.672G>A (p.Glu224=)
|
rs745724942
|
0.00006
|
NM_018055.5(NODAL):c.924C>T (p.Val308=)
|
rs188029435
|
0.00006
|
NM_022114.4(PRDM16):c.141C>T (p.Pro47=)
|
rs746262080
|
0.00006
|
NM_022114.4(PRDM16):c.1947T>C (p.Phe649=)
|
rs1369460161
|
0.00006
|
NM_022114.4(PRDM16):c.2118C>T (p.Pro706=)
|
rs543211916
|
0.00006
|
NM_022114.4(PRDM16):c.2295C>T (p.Gly765=)
|
rs376224745
|
0.00006
|
NM_022114.4(PRDM16):c.2604-13T>C
|
rs750825082
|
0.00006
|
NM_022114.4(PRDM16):c.3284+17G>A
|
rs376268478
|
0.00006
|
NM_022114.4(PRDM16):c.3366C>T (p.Asp1122=)
|
rs370195954
|
0.00006
|
NM_022114.4(PRDM16):c.3696+10C>T
|
rs369030039
|
0.00006
|
NM_022114.4(PRDM16):c.387+12C>T
|
rs371946677
|
0.00006
|
NM_022114.4(PRDM16):c.399G>A (p.Thr133=)
|
rs368785625
|
0.00006
|
NM_022114.4(PRDM16):c.75C>T (p.Asn25=)
|
rs759261262
|
0.00006
|
NM_022114.4(PRDM16):c.822C>T (p.Gly274=)
|
rs372730781
|
0.00006
|
NM_022114.4(PRDM16):c.969C>T (p.Asn323=)
|
rs371151181
|
0.00006
|
NM_033337.3(CAV3):c.129C>T (p.Asp43=)
|
rs374584030
|
0.00006
|
NM_033337.3(CAV3):c.39C>T (p.Ile13=)
|
rs200562715
|
0.00006
|
NM_172201.2(KCNE2):c.39C>T (p.Asp13=)
|
rs556106127
|
0.00006
|
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys)
|
rs74315449
|
0.00006
|
NM_174934.4(SCN4B):c.432C>T (p.His144=)
|
rs373045667
|
0.00006
|
NM_174934.4(SCN4B):c.640G>A (p.Gly214Ser)
|
rs367988277
|
0.00006
|
NM_000218.3(KCNQ1):c.1686-4C>T
|
rs548313980
|
0.00005
|
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=)
|
rs200670744
|
0.00005
|
NM_000218.3(KCNQ1):c.1761G>A (p.Thr587=)
|
rs148794853
|
0.00005
|
NM_000218.3(KCNQ1):c.1902C>T (p.Gly634=)
|
rs774046442
|
0.00005
|
NM_000218.3(KCNQ1):c.683+19C>T
|
rs372777085
|
0.00005
|
NM_000218.3(KCNQ1):c.780+12G>A
|
rs200796314
|
0.00005
|
NM_000218.3(KCNQ1):c.921+7C>T
|
rs370506451
|
0.00005
|
NM_000219.6(KCNE1):c.24G>A (p.Ala8=)
|
rs144094344
|
0.00005
|
NM_000219.6(KCNE1):c.315G>A (p.Ser105=)
|
rs563859144
|
0.00005
|
NM_000238.4(KCNH2):c.1129-9C>T
|
rs372184728
|
0.00005
|
NM_000238.4(KCNH2):c.1512C>T (p.Ala504=)
|
rs41311003
|
0.00005
|
NM_000238.4(KCNH2):c.2055C>T (p.Arg685=)
|
rs753149816
|
0.00005
|
NM_000238.4(KCNH2):c.2931C>T (p.Cys977=)
|
rs761585108
|
0.00005
|
NM_000238.4(KCNH2):c.3147C>T (p.Leu1049=)
|
rs999440318
|
0.00005
|
NM_000238.4(KCNH2):c.3436A>T (p.Thr1146Ser)
|
rs778879572
|
0.00005
|
NM_000238.4(KCNH2):c.702G>C (p.Leu234=)
|
rs954537017
|
0.00005
|
NM_000238.4(KCNH2):c.864C>T (p.Ile288=)
|
rs915031143
|
0.00005
|
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met)
|
rs572234918
|
0.00005
|
NM_000719.7(CACNA1C):c.2022A>G (p.Gly674=)
|
rs765301620
|
0.00005
|
NM_000719.7(CACNA1C):c.2339+18C>T
|
rs778390407
|
0.00005
|
NM_000719.7(CACNA1C):c.3492C>T (p.Phe1164=)
|
rs757106180
|
0.00005
|
NM_000719.7(CACNA1C):c.3946-10C>T
|
rs370630496
|
0.00005
|
NM_000719.7(CACNA1C):c.4074+9C>G
|
rs368648708
|
0.00005
|
NM_000719.7(CACNA1C):c.4920G>A (p.Val1640=)
|
rs773063881
|
0.00005
|
NM_000719.7(CACNA1C):c.4941C>T (p.Asn1647=)
|
rs773832706
|
0.00005
|
NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln)
|
rs376706496
|
0.00005
|
NM_000719.7(CACNA1C):c.5293G>A (p.Ala1765Thr)
|
rs200937586
|
0.00005
|
NM_000719.7(CACNA1C):c.5747A>G (p.Gln1916Arg)
|
rs186867242
|
0.00005
|
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=)
|
rs757236915
|
0.00005
|
NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr)
|
rs369483452
|
0.00005
|
NM_000719.7(CACNA1C):c.990G>A (p.Thr330=)
|
rs371837699
|
0.00005
|
NM_000890.5(KCNJ5):c.1254G>A (p.Ser418=)
|
rs528463709
|
0.00005
|
NM_000890.5(KCNJ5):c.739G>A (p.Gly247Arg)
|
rs200170681
|
0.00005
|
NM_000890.5(KCNJ5):c.843C>T (p.Asn281=)
|
rs370673577
|
0.00005
|
NM_001148.6(ANK2):c.10032A>G (p.Pro3344=)
|
rs775667097
|
0.00005
|
NM_001148.6(ANK2):c.10992T>C (p.Tyr3664=)
|
rs749476928
|
0.00005
|
NM_001148.6(ANK2):c.11658A>G (p.Glu3886=)
|
rs771750785
|
0.00005
|
NM_001148.6(ANK2):c.1177G>A (p.Ala393Thr)
|
rs147458476
|
0.00005
|
NM_001148.6(ANK2):c.285+19G>A
|
rs111878655
|
0.00005
|
NM_001148.6(ANK2):c.3136C>T (p.Leu1046=)
|
rs149840991
|
0.00005
|
NM_001148.6(ANK2):c.4254C>T (p.Arg1418=)
|
rs778974823
|
0.00005
|
NM_001148.6(ANK2):c.6843G>A (p.Thr2281=)
|
rs548896674
|
0.00005
|
NM_001148.6(ANK2):c.7320C>T (p.Ser2440=)
|
rs190590036
|
0.00005
|
NM_001148.6(ANK2):c.7877C>T (p.Pro2626Leu)
|
rs754511955
|
0.00005
|
NM_001148.6(ANK2):c.813T>C (p.His271=)
|
rs774848857
|
0.00005
|
NM_001148.6(ANK2):c.9180A>G (p.Lys3060=)
|
rs753698480
|
0.00005
|
NM_001276345.2(TNNT2):c.567C>T (p.Ser189=)
|
rs397516474
|
0.00005
|
NM_001276345.2(TNNT2):c.864C>T (p.Arg288=)
|
rs45503195
|
0.00005
|
NM_001308093.3(GATA4):c.786+16G>A
|
rs200555437
|
0.00005
|
NM_001386795.1(DTNA):c.1002-6T>C
|
rs200208281
|
0.00005
|
NM_001386795.1(DTNA):c.1848G>A (p.Thr616=)
|
rs373742103
|
0.00005
|
NM_001386795.1(DTNA):c.675G>A (p.Leu225=)
|
rs376519672
|
0.00005
|
NM_003098.3(SNTA1):c.13A>C (p.Arg5=)
|
rs980437334
|
0.00005
|
NM_003098.3(SNTA1):c.162C>T (p.Gly54=)
|
rs544127915
|
0.00005
|
NM_005257.6(GATA6):c.543G>C (p.Ala181=)
|
rs1462466315
|
0.00005
|
NM_005751.5(AKAP9):c.11376T>G (p.Val3792=)
|
rs200050078
|
0.00005
|
NM_005751.5(AKAP9):c.11687-16T>C
|
rs549524911
|
0.00005
|
NM_005751.5(AKAP9):c.2609G>A (p.Cys870Tyr)
|
rs187255726
|
0.00005
|
NM_005751.5(AKAP9):c.5610T>C (p.His1870=)
|
rs150332727
|
0.00005
|
NM_005751.5(AKAP9):c.5978-13T>C
|
rs370504212
|
0.00005
|
NM_005751.5(AKAP9):c.6141A>G (p.Glu2047=)
|
rs141830654
|
0.00005
|
NM_015335.5(MED13L):c.2570-7T>C
|
rs768826816
|
0.00005
|
NM_015335.5(MED13L):c.573G>C (p.Leu191Phe)
|
rs201690921
|
0.00005
|
NM_022114.4(PRDM16):c.1800C>T (p.Asp600=)
|
rs375279095
|
0.00005
|
NM_022114.4(PRDM16):c.1893C>T (p.Ser631=)
|
rs372411909
|
0.00005
|
NM_022114.4(PRDM16):c.1926C>T (p.Ser642=)
|
rs369294573
|
0.00005
|
NM_022114.4(PRDM16):c.2034C>T (p.Pro678=)
|
rs371635702
|
0.00005
|
NM_022114.4(PRDM16):c.2100C>T (p.Ala700=)
|
rs565237990
|
0.00005
|
NM_022114.4(PRDM16):c.2646G>A (p.Leu882=)
|
rs1060504134
|
0.00005
|
NM_022114.4(PRDM16):c.3306C>T (p.Asp1102=)
|
rs199800219
|
0.00005
|
NM_022114.4(PRDM16):c.3405C>T (p.Ala1135=)
|
rs765114438
|
0.00005
|
NM_022114.4(PRDM16):c.762C>T (p.Gly254=)
|
rs763433232
|
0.00005
|
NM_172201.2(KCNE2):c.252C>T (p.Tyr84=)
|
rs1028976664
|
0.00005
|
NM_174934.4(SCN4B):c.633G>A (p.Thr211=)
|
rs111905160
|
0.00005
|
NM_000218.3(KCNQ1):c.1033-13C>T
|
rs765281450
|
0.00004
|
NM_000218.3(KCNQ1):c.1033-15T>A
|
rs534945737
|
0.00004
|
NM_000218.3(KCNQ1):c.1033-4C>T
|
rs543599445
|
0.00004
|
NM_000218.3(KCNQ1):c.1033-5C>G
|
rs764094211
|
0.00004
|
NM_000218.3(KCNQ1):c.1107G>A (p.Pro369=)
|
rs746037904
|
0.00004
|
NM_000218.3(KCNQ1):c.1393+9C>A
|
rs774803201
|
0.00004
|
NM_000218.3(KCNQ1):c.1533G>A (p.Arg511=)
|
rs535306115
|
0.00004
|
NM_000218.3(KCNQ1):c.1905G>A (p.Gly635=)
|
rs1003639764
|
0.00004
|
NM_000218.3(KCNQ1):c.478-16C>T
|
rs758656397
|
0.00004
|
NM_000219.6(KCNE1):c.222G>A (p.Ser74=)
|
rs766767618
|
0.00004
|
NM_000238.4(KCNH2):c.1128+14G>A
|
rs1017169925
|
0.00004
|
NM_000238.4(KCNH2):c.1128+1869C>T
|
rs62492438
|
0.00004
|
NM_000238.4(KCNH2):c.1128+1884G>A
|
rs765679790
|
0.00004
|
NM_000238.4(KCNH2):c.1129-17G>A
|
rs376741938
|
0.00004
|
NM_000238.4(KCNH2):c.1179G>A (p.Pro393=)
|
rs200020952
|
0.00004
|
NM_000238.4(KCNH2):c.1458C>T (p.Pro486=)
|
rs376388545
|
0.00004
|
NM_000238.4(KCNH2):c.1471G>A (p.Val491Ile)
|
rs374376640
|
0.00004
|
NM_000238.4(KCNH2):c.1524C>T (p.Phe508=)
|
rs555601424
|
0.00004
|
NM_000238.4(KCNH2):c.1608G>A (p.Ala536=)
|
rs144925439
|
0.00004
|
NM_000238.4(KCNH2):c.1644C>T (p.Ala548=)
|
rs370764268
|
0.00004
|
NM_000238.4(KCNH2):c.1945+18C>T
|
rs778276270
|
0.00004
|
NM_000238.4(KCNH2):c.1946-14G>A
|
rs371820756
|
0.00004
|
NM_000238.4(KCNH2):c.2142C>T (p.Asn714=)
|
rs552000706
|
0.00004
|
NM_000238.4(KCNH2):c.2361C>T (p.Ile787=)
|
rs147635827
|
0.00004
|
NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val)
|
rs765427343
|
0.00004
|
NM_000238.4(KCNH2):c.2793G>A (p.Pro931=)
|
rs200976506
|
0.00004
|
NM_000238.4(KCNH2):c.2889C>T (p.Pro963=)
|
rs749814759
|
0.00004
|
NM_000238.4(KCNH2):c.2901G>A (p.Pro967=)
|
rs780481239
|
0.00004
|
NM_000238.4(KCNH2):c.2943C>T (p.Ser981=)
|
rs374528441
|
0.00004
|
NM_000238.4(KCNH2):c.2994C>T (p.Phe998=)
|
rs368954514
|
0.00004
|
NM_000238.4(KCNH2):c.3164G>A (p.Arg1055Gln)
|
rs41307270
|
0.00004
|
NM_000238.4(KCNH2):c.738C>A (p.Gly246=)
|
rs1189681084
|
0.00004
|
NM_000238.4(KCNH2):c.77-10G>C
|
rs774772373
|
0.00004
|
NM_000238.4(KCNH2):c.918G>A (p.Gly306=)
|
rs761554886
|
0.00004
|
NM_000719.7(CACNA1C):c.102G>A (p.Ala34=)
|
rs376345869
|
0.00004
|
NM_000719.7(CACNA1C):c.1065G>A (p.Thr355=)
|
rs757055492
|
0.00004
|
NM_000719.7(CACNA1C):c.1104G>A (p.Val368=)
|
rs377274770
|
0.00004
|
NM_000719.7(CACNA1C):c.1114-10G>A
|
rs371725005
|
0.00004
|
NM_000719.7(CACNA1C):c.1217+13A>G
|
rs781570516
|
0.00004
|
NM_000719.7(CACNA1C):c.1434C>T (p.Asn478=)
|
rs765805414
|
0.00004
|
NM_000719.7(CACNA1C):c.1477C>A (p.Leu493Met)
|
rs376530064
|
0.00004
|
NM_000719.7(CACNA1C):c.1481+16G>A
|
rs369604192
|
0.00004
|
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln)
|
rs369255950
|
0.00004
|
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=)
|
rs398123517
|
0.00004
|
NM_000719.7(CACNA1C):c.1620C>T (p.Thr540=)
|
rs893883530
|
0.00004
|
NM_000719.7(CACNA1C):c.1674G>A (p.Thr558=)
|
rs781180544
|
0.00004
|
NM_000719.7(CACNA1C):c.201C>T (p.Ser67=)
|
rs766851793
|
0.00004
|
NM_000719.7(CACNA1C):c.2637G>A (p.Ala879=)
|
rs199629800
|
0.00004
|
NM_000719.7(CACNA1C):c.2663+15T>G
|
rs182986691
|
0.00004
|
NM_000719.7(CACNA1C):c.2664-6G>A
|
rs374269485
|
0.00004
|
NM_000719.7(CACNA1C):c.2664-7C>T
|
rs575664788
|
0.00004
|
NM_000719.7(CACNA1C):c.2816T>C (p.Val939Ala)
|
rs754495060
|
0.00004
|
NM_000719.7(CACNA1C):c.2853+189A>G
|
rs370050438
|
0.00004
|
NM_000719.7(CACNA1C):c.2960+15C>T
|
rs769108641
|
0.00004
|
NM_000719.7(CACNA1C):c.300G>A (p.Pro100=)
|
rs764323907
|
0.00004
|
NM_000719.7(CACNA1C):c.3081G>A (p.Arg1027=)
|
rs746010296
|
0.00004
|
NM_000719.7(CACNA1C):c.3201G>A (p.Ala1067=)
|
rs758461435
|
0.00004
|
NM_000719.7(CACNA1C):c.3330C>T (p.Thr1110=)
|
rs375202118
|
0.00004
|
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=)
|
rs202058956
|
0.00004
|
NM_000719.7(CACNA1C):c.3717+11G>A
|
rs763622598
|
0.00004
|
NM_000719.7(CACNA1C):c.3718-12C>T
|
rs774165526
|
0.00004
|
NM_000719.7(CACNA1C):c.375A>G (p.Pro125=)
|
rs587780882
|
0.00004
|
NM_000719.7(CACNA1C):c.3945+18G>A
|
rs775246723
|
0.00004
|
NM_000719.7(CACNA1C):c.4044G>A (p.Thr1348=)
|
rs911952595
|
0.00004
|
NM_000719.7(CACNA1C):c.4075-15T>C
|
rs1025618556
|
0.00004
|
NM_000719.7(CACNA1C):c.4128G>A (p.Val1376=)
|
rs377173101
|
0.00004
|
NM_000719.7(CACNA1C):c.4170C>T (p.Thr1390=)
|
rs587780878
|
0.00004
|
NM_000719.7(CACNA1C):c.426G>A (p.Ala142=)
|
rs546786746
|
0.00004
|
NM_000719.7(CACNA1C):c.4526+12G>C
|
rs748926089
|
0.00004
|
NM_000719.7(CACNA1C):c.4863G>A (p.Thr1621=)
|
rs780301618
|
0.00004
|
NM_000719.7(CACNA1C):c.4899G>A (p.Lys1633=)
|
rs368667721
|
0.00004
|
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala)
|
rs531161884
|
0.00004
|
NM_000719.7(CACNA1C):c.5136C>T (p.Ser1712=)
|
rs780871697
|
0.00004
|
NM_000719.7(CACNA1C):c.5181G>A (p.Pro1727=)
|
rs370149297
|
0.00004
|
NM_000719.7(CACNA1C):c.5226G>A (p.Ser1742=)
|
rs368281620
|
0.00004
|
NM_000719.7(CACNA1C):c.5277G>A (p.Ser1759=)
|
rs371931644
|
0.00004
|
NM_000719.7(CACNA1C):c.5320G>A (p.Ala1774Thr)
|
rs767425352
|
0.00004
|
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=)
|
rs587780881
|
0.00004
|
NM_000719.7(CACNA1C):c.5785-15C>A
|
rs777236425
|
0.00004
|
NM_000719.7(CACNA1C):c.6001G>A (p.Gly2001Ser)
|
rs552478740
|
0.00004
|
NM_000719.7(CACNA1C):c.6022G>A (p.Ala2008Thr)
|
rs765885227
|
0.00004
|
NM_000719.7(CACNA1C):c.6054G>A (p.Val2018=)
|
rs370090255
|
0.00004
|
NM_000719.7(CACNA1C):c.6224A>C (p.Glu2075Ala)
|
rs749035949
|
0.00004
|
NM_000719.7(CACNA1C):c.6324C>T (p.Ala2108=)
|
rs757538773
|
0.00004
|
NM_000719.7(CACNA1C):c.687C>T (p.Ala229=)
|
rs201664704
|
0.00004
|
NM_000719.7(CACNA1C):c.828G>A (p.Leu276=)
|
rs540934161
|
0.00004
|
NM_000719.7(CACNA1C):c.855C>T (p.Ile285=)
|
rs752809686
|
0.00004
|
NM_000719.7(CACNA1C):c.916+16G>A
|
rs553880579
|
0.00004
|
NM_000890.5(KCNJ5):c.366C>T (p.Gly122=)
|
rs375205252
|
0.00004
|
NM_000891.3(KCNJ2):c.1164C>T (p.Asp388=)
|
rs150855087
|
0.00004
|
NM_000891.3(KCNJ2):c.570C>T (p.Asn190=)
|
rs183993685
|
0.00004
|
NM_000891.3(KCNJ2):c.597C>T (p.Ala199=)
|
rs771056622
|
0.00004
|
NM_001106.4(ACVR2B):c.243C>T (p.Asp81=)
|
rs781394045
|
0.00004
|
NM_001148.6(ANK2):c.10809T>A (p.Ile3603=)
|
rs924379504
|
0.00004
|
NM_001148.6(ANK2):c.10935T>C (p.Ile3645=)
|
rs143932461
|
0.00004
|
NM_001148.6(ANK2):c.1110C>T (p.His370=)
|
rs371839121
|
0.00004
|
NM_001148.6(ANK2):c.132G>A (p.Leu44=)
|
rs150986299
|
0.00004
|
NM_001148.6(ANK2):c.1683+15A>G
|
rs754371069
|
0.00004
|
NM_001148.6(ANK2):c.1722A>C (p.Gly574=)
|
rs754496484
|
0.00004
|
NM_001148.6(ANK2):c.1737A>C (p.Ala579=)
|
rs892057800
|
0.00004
|
NM_001148.6(ANK2):c.1773T>C (p.Ser591=)
|
rs374775005
|
0.00004
|
NM_001148.6(ANK2):c.1896G>A (p.Pro632=)
|
rs140761981
|
0.00004
|
NM_001148.6(ANK2):c.2010G>A (p.Ser670=)
|
rs370715876
|
0.00004
|
NM_001148.6(ANK2):c.2265C>T (p.Asn755=)
|
rs765273107
|
0.00004
|
NM_001148.6(ANK2):c.2466C>G (p.Thr822=)
|
rs553116512
|
0.00004
|
NM_001148.6(ANK2):c.2475+19C>A
|
rs377657569
|
0.00004
|
NM_001148.6(ANK2):c.2622A>G (p.Ser874=)
|
rs764486532
|
0.00004
|
NM_001148.6(ANK2):c.2964G>T (p.Gly988=)
|
rs779092487
|
0.00004
|
NM_001148.6(ANK2):c.3379+17C>T
|
rs201185141
|
0.00004
|
NM_001148.6(ANK2):c.3930C>T (p.Ser1310=)
|
rs563444325
|
0.00004
|
NM_001148.6(ANK2):c.417A>G (p.Gln139=)
|
rs145234030
|
0.00004
|
NM_001148.6(ANK2):c.4653C>T (p.Ile1551=)
|
rs200539502
|
0.00004
|
NM_001148.6(ANK2):c.5607G>A (p.Ala1869=)
|
rs760246803
|
0.00004
|
NM_001148.6(ANK2):c.5936C>T (p.Ser1979Leu)
|
rs531574502
|
0.00004
|
NM_001148.6(ANK2):c.6561C>T (p.Phe2187=)
|
rs950082624
|
0.00004
|
NM_001148.6(ANK2):c.6585C>T (p.Ser2195=)
|
rs147316211
|
0.00004
|
NM_001148.6(ANK2):c.6726G>A (p.Thr2242=)
|
rs778145810
|
0.00004
|
NM_001148.6(ANK2):c.6801A>G (p.Thr2267=)
|
rs774126279
|
0.00004
|
NM_001148.6(ANK2):c.7149G>A (p.Pro2383=)
|
rs200877971
|
0.00004
|
NM_001148.6(ANK2):c.7396C>T (p.Arg2466Cys)
|
rs562115547
|
0.00004
|
NM_001148.6(ANK2):c.7578G>A (p.Ser2526=)
|
rs74930244
|
0.00004
|
NM_001148.6(ANK2):c.8087C>T (p.Pro2696Leu)
|
rs371879286
|
0.00004
|
NM_001148.6(ANK2):c.8286A>G (p.Leu2762=)
|
rs751252941
|
0.00004
|
NM_001148.6(ANK2):c.9153C>T (p.Asp3051=)
|
rs144397802
|
0.00004
|
NM_001148.6(ANK2):c.9822C>T (p.Pro3274=)
|
rs144939151
|
0.00004
|
NM_001276345.2(TNNT2):c.52+13G>A
|
rs376820377
|
0.00004
|
NM_001276345.2(TNNT2):c.720-13C>G
|
rs377714587
|
0.00004
|
NM_001276345.2(TNNT2):c.720-5T>G
|
rs730881092
|
0.00004
|
NM_001276345.2(TNNT2):c.720-7C>T
|
rs376303087
|
0.00004
|
NM_001276345.2(TNNT2):c.882C>T (p.Thr294=)
|
rs45465693
|
0.00004
|
NM_001308093.3(GATA4):c.1236G>A (p.Ala412=)
|
rs771755685
|
0.00004
|
NM_001308093.3(GATA4):c.1311C>T (p.His437=)
|
rs779684582
|
0.00004
|
NM_001308093.3(GATA4):c.720C>T (p.Asn240=)
|
rs747431380
|
0.00004
|
NM_001308093.3(GATA4):c.747C>T (p.Asn249=)
|
rs140212153
|
0.00004
|
NM_001308093.3(GATA4):c.789C>T (p.Ser263=)
|
rs777744927
|
0.00004
|
NM_001308093.3(GATA4):c.957A>G (p.Arg319=)
|
rs746390280
|
0.00004
|
NM_001386795.1(DTNA):c.1431G>A (p.Ser477=)
|
rs202088347
|
0.00004
|
NM_001386795.1(DTNA):c.2157C>T (p.Gly719=)
|
rs754959223
|
0.00004
|
NM_001386795.1(DTNA):c.657G>A (p.Pro219=)
|
rs140446215
|
0.00004
|
NM_001386795.1(DTNA):c.69G>A (p.Arg23=)
|
rs751765838
|
0.00004
|
NM_001386795.1(DTNA):c.877-8C>G
|
rs764675965
|
0.00004
|
NM_001386795.1(DTNA):c.978G>A (p.Lys326=)
|
rs200830541
|
0.00004
|
NM_001743.6(CALM2):c.421+10T>G
|
rs1193912501
|
0.00004
|
NM_003098.3(SNTA1):c.1158G>A (p.Pro386=)
|
rs774320273
|
0.00004
|
NM_003098.3(SNTA1):c.339C>G (p.Leu113=)
|
rs746780665
|
0.00004
|
NM_003098.3(SNTA1):c.447T>C (p.Asp149=)
|
rs760527177
|
0.00004
|
NM_003098.3(SNTA1):c.513C>T (p.Asp171=)
|
rs182320044
|
0.00004
|
NM_003098.3(SNTA1):c.847T>C (p.Leu283=)
|
rs754862058
|
0.00004
|
NM_003413.4(ZIC3):c.98C>T (p.Ala33Val)
|
rs201398331
|
0.00004
|
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val)
|
rs530270916
|
0.00004
|
NM_004387.4(NKX2-5):c.408A>G (p.Arg136=)
|
rs974468549
|
0.00004
|
NM_004387.4(NKX2-5):c.462G>A (p.Glu154=)
|
rs909098202
|
0.00004
|
NM_004387.4(NKX2-5):c.969C>T (p.Ala323=)
|
rs370499146
|
0.00004
|
NM_004821.3(HAND1):c.219T>C (p.Gly73=)
|
rs6880185
|
0.00004
|
NM_005159.5(ACTC1):c.1053G>C (p.Leu351=)
|
rs151321743
|
0.00004
|
NM_005159.5(ACTC1):c.309C>T (p.His103=)
|
rs769303249
|
0.00004
|
NM_005159.5(ACTC1):c.652C>T (p.Leu218=)
|
rs760269526
|
0.00004
|
NM_005257.6(GATA6):c.1734C>T (p.Ala578=)
|
rs747397185
|
0.00004
|
NM_005257.6(GATA6):c.282T>A (p.Pro94=)
|
rs374591296
|
0.00004
|
NM_005257.6(GATA6):c.477G>C (p.Pro159=)
|
rs771297576
|
0.00004
|
NM_005257.6(GATA6):c.762A>G (p.Ser254=)
|
rs1275066172
|
0.00004
|
NM_005257.6(GATA6):c.999T>C (p.His333=)
|
rs1317202692
|
0.00004
|
NM_005751.5(AKAP9):c.10305A>T (p.Arg3435=)
|
rs372493917
|
0.00004
|
NM_005751.5(AKAP9):c.10896+20C>T
|
rs765220786
|
0.00004
|
NM_005751.5(AKAP9):c.11490G>A (p.Thr3830=)
|
rs751636798
|
0.00004
|
NM_005751.5(AKAP9):c.2406A>G (p.Arg802=)
|
rs565850417
|
0.00004
|
NM_005751.5(AKAP9):c.3345C>G (p.Ala1115=)
|
rs749254312
|
0.00004
|
NM_005751.5(AKAP9):c.3927T>G (p.Ser1309=)
|
rs150875198
|
0.00004
|
NM_005751.5(AKAP9):c.4137G>A (p.Thr1379=)
|
rs766454113
|
0.00004
|
NM_005751.5(AKAP9):c.5543C>G (p.Ser1848Cys)
|
rs189083857
|
0.00004
|
NM_005751.5(AKAP9):c.6946-12A>G
|
rs375657019
|
0.00004
|
NM_005751.5(AKAP9):c.7074A>G (p.Lys2358=)
|
rs150968594
|
0.00004
|
NM_005751.5(AKAP9):c.7515G>A (p.Glu2505=)
|
rs761387563
|
0.00004
|
NM_005751.5(AKAP9):c.7800T>C (p.Asp2600=)
|
rs770573236
|
0.00004
|
NM_005751.5(AKAP9):c.8079T>C (p.Ala2693=)
|
rs371316172
|
0.00004
|
NM_005751.5(AKAP9):c.8355T>G (p.Thr2785=)
|
rs201128911
|
0.00004
|
NM_005751.5(AKAP9):c.8778A>G (p.Glu2926=)
|
rs779524120
|
0.00004
|
NM_005751.5(AKAP9):c.9025-19G>A
|
rs768077367
|
0.00004
|
NM_005751.5(AKAP9):c.9729+17C>T
|
rs776936265
|
0.00004
|
NM_006888.6(CALM1):c.18C>T (p.Thr6=)
|
rs755065015
|
0.00004
|
NM_015335.5(MED13L):c.1503A>G (p.Gln501=)
|
rs538329234
|
0.00004
|
NM_015335.5(MED13L):c.3273C>T (p.Pro1091=)
|
rs145072799
|
0.00004
|
NM_015335.5(MED13L):c.3306A>G (p.Pro1102=)
|
rs375910790
|
0.00004
|
NM_015335.5(MED13L):c.4396C>T (p.Arg1466Cys)
|
rs530432287
|
0.00004
|
NM_015335.5(MED13L):c.6522C>T (p.Asn2174=)
|
rs370692319
|
0.00004
|
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg)
|
rs121909283
|
0.00004
|
NM_021005.4(NR2F2):c.264C>G (p.Gly88=)
|
rs757445345
|
0.00004
|
NM_022114.4(PRDM16):c.114C>T (p.Ala38=)
|
rs372823594
|
0.00004
|
NM_022114.4(PRDM16):c.1206C>T (p.Ser402=)
|
rs370042460
|
0.00004
|
NM_022114.4(PRDM16):c.1359G>A (p.Pro453=)
|
rs749676367
|
0.00004
|
NM_022114.4(PRDM16):c.1440C>T (p.His480=)
|
rs777323102
|
0.00004
|
NM_022114.4(PRDM16):c.1470C>T (p.Pro490=)
|
rs763999418
|
0.00004
|
NM_022114.4(PRDM16):c.1509G>A (p.Ala503=)
|
rs558211792
|
0.00004
|
NM_022114.4(PRDM16):c.153G>A (p.Pro51=)
|
rs1266307612
|
0.00004
|
NM_022114.4(PRDM16):c.1680C>T (p.Ser560=)
|
rs565375368
|
0.00004
|
NM_022114.4(PRDM16):c.171C>T (p.Ser57=)
|
rs369648897
|
0.00004
|
NM_022114.4(PRDM16):c.1863G>A (p.Thr621=)
|
rs1412454555
|
0.00004
|
NM_022114.4(PRDM16):c.1869G>A (p.Ser623=)
|
rs778188314
|
0.00004
|
NM_022114.4(PRDM16):c.2283C>T (p.Ala761=)
|
rs751542963
|
0.00004
|
NM_022114.4(PRDM16):c.2421C>T (p.Ile807=)
|
rs549044743
|
0.00004
|
NM_022114.4(PRDM16):c.2505C>T (p.Ala835=)
|
rs762623730
|
0.00004
|
NM_022114.4(PRDM16):c.2532G>A (p.Pro844=)
|
rs755046777
|
0.00004
|
NM_022114.4(PRDM16):c.2577G>A (p.Ser859=)
|
rs768230502
|
0.00004
|
NM_022114.4(PRDM16):c.2724G>C (p.Leu908=)
|
rs757917553
|
0.00004
|
NM_022114.4(PRDM16):c.2940-15G>A
|
rs538723120
|
0.00004
|
NM_022114.4(PRDM16):c.3066C>T (p.Asn1022=)
|
rs747451506
|
0.00004
|
NM_022114.4(PRDM16):c.3156G>A (p.Ala1052=)
|
rs374274116
|
0.00004
|
NM_022114.4(PRDM16):c.3198C>T (p.Asp1066=)
|
rs541579138
|
0.00004
|
NM_022114.4(PRDM16):c.3270G>A (p.Thr1090=)
|
rs375314464
|
0.00004
|
NM_022114.4(PRDM16):c.3327C>T (p.Gly1109=)
|
rs766134173
|
0.00004
|
NM_022114.4(PRDM16):c.3521+12C>T
|
rs982195800
|
0.00004
|
NM_022114.4(PRDM16):c.3696+11G>A
|
rs775474986
|
0.00004
|
NM_022114.4(PRDM16):c.378C>T (p.Phe126=)
|
rs774801289
|
0.00004
|
NM_022114.4(PRDM16):c.777G>A (p.Ala259=)
|
rs557978089
|
0.00004
|
NM_022114.4(PRDM16):c.885-10C>T
|
rs368200652
|
0.00004
|
NM_022114.4(PRDM16):c.885-5C>T
|
rs374596243
|
0.00004
|
NM_033337.3(CAV3):c.201C>A (p.Val67=)
|
rs201593267
|
0.00004
|
NM_033337.3(CAV3):c.384C>T (p.Phe128=)
|
rs773934743
|
0.00004
|
NM_145020.5(CFAP53):c.71G>T (p.Arg24Ile)
|
rs754876515
|
0.00004
|
NM_172201.2(KCNE2):c.207G>A (p.Val69=)
|
rs780534713
|
0.00004
|
NM_172201.2(KCNE2):c.222C>T (p.Ser74=)
|
rs755211128
|
0.00004
|
NM_172201.2(KCNE2):c.228A>G (p.Arg76=)
|
rs202169020
|
0.00004
|
NM_172201.2(KCNE2):c.309A>G (p.Leu103=)
|
rs1387119980
|
0.00004
|
NM_174934.4(SCN4B):c.348T>C (p.Ile116=)
|
rs144127307
|
0.00004
|
NM_174934.4(SCN4B):c.507C>T (p.Val169=)
|
rs759761004
|
0.00004
|
NM_000218.3(KCNQ1):c.1197C>A (p.Ala399=)
|
rs756413033
|
0.00003
|
NM_000218.3(KCNQ1):c.1383T>C (p.Tyr461=)
|
rs794728527
|
0.00003
|
NM_000218.3(KCNQ1):c.1514+13A>G
|
rs532874422
|
0.00003
|
NM_000218.3(KCNQ1):c.1548C>T (p.Val516=)
|
rs748073960
|
0.00003
|
NM_000218.3(KCNQ1):c.1590+20T>C
|
rs761012323
|
0.00003
|
NM_000218.3(KCNQ1):c.1591-18T>C
|
rs1046721792
|
0.00003
|
NM_000218.3(KCNQ1):c.1591-19G>A
|
rs1167627067
|
0.00003
|
NM_000218.3(KCNQ1):c.1656C>T (p.Leu552=)
|
rs745675388
|
0.00003
|
NM_000218.3(KCNQ1):c.1767C>T (p.Gly589=)
|
rs368364062
|
0.00003
|
NM_000218.3(KCNQ1):c.1794+12C>G
|
rs727505084
|
0.00003
|
NM_000218.3(KCNQ1):c.1881C>T (p.Ser627=)
|
rs781272088
|
0.00003
|
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser)
|
rs763478809
|
0.00003
|
NM_000218.3(KCNQ1):c.2016C>T (p.Pro672=)
|
rs751946698
|
0.00003
|
NM_000218.3(KCNQ1):c.501C>T (p.Phe167=)
|
rs774085613
|
0.00003
|
NM_000218.3(KCNQ1):c.618C>T (p.Val206=)
|
rs772565627
|
0.00003
|
NM_000218.3(KCNQ1):c.858C>T (p.Asp286=)
|
rs760047145
|
0.00003
|
NM_000218.3(KCNQ1):c.966G>A (p.Thr322=)
|
rs777450662
|
0.00003
|
NM_000219.6(KCNE1):c.107G>A (p.Arg36His)
|
rs199473351
|
0.00003
|
NM_000219.6(KCNE1):c.297C>G (p.Val99=)
|
rs780553669
|
0.00003
|
NM_000219.6(KCNE1):c.324C>T (p.Val108=)
|
rs200684060
|
0.00003
|
NM_000238.4(KCNH2):c.1128+1830C>T
|
rs778819756
|
0.00003
|
NM_000238.4(KCNH2):c.1128+1852G>A
|
rs780068180
|
0.00003
|
NM_000238.4(KCNH2):c.1128+18G>A
|
rs1315084650
|
0.00003
|
NM_000238.4(KCNH2):c.1128+7G>A
|
rs200884259
|
0.00003
|
NM_000238.4(KCNH2):c.1281C>T (p.Tyr427=)
|
rs1291372587
|
0.00003
|
NM_000238.4(KCNH2):c.1648C>T (p.Leu550=)
|
rs773783499
|
0.00003
|
NM_000238.4(KCNH2):c.1749C>T (p.Ile583=)
|
rs765893780
|
0.00003
|
NM_000238.4(KCNH2):c.1887C>T (p.Asn629=)
|
rs41307295
|
0.00003
|
NM_000238.4(KCNH2):c.1974C>T (p.Asn658=)
|
rs553107049
|
0.00003
|
NM_000238.4(KCNH2):c.2146-16C>T
|
rs375568514
|
0.00003
|
NM_000238.4(KCNH2):c.2457C>T (p.Asn819=)
|
rs768725008
|
0.00003
|
NM_000238.4(KCNH2):c.2595C>T (p.Thr865=)
|
rs762327995
|
0.00003
|
NM_000238.4(KCNH2):c.2607G>A (p.Pro869=)
|
rs199828796
|
0.00003
|
NM_000238.4(KCNH2):c.2625G>A (p.Thr875=)
|
rs147980211
|
0.00003
|
NM_000238.4(KCNH2):c.2886G>A (p.Arg962=)
|
rs774873967
|
0.00003
|
NM_000238.4(KCNH2):c.2892C>T (p.Pro964=)
|
rs769972412
|
0.00003
|
NM_000238.4(KCNH2):c.3072C>T (p.Asn1024=)
|
rs781274793
|
0.00003
|
NM_000238.4(KCNH2):c.3162C>G (p.Thr1054=)
|
rs368701315
|
0.00003
|
NM_000238.4(KCNH2):c.3225G>A (p.Pro1075=)
|
rs778119775
|
0.00003
|
NM_000238.4(KCNH2):c.3459C>T (p.His1153=)
|
rs755599756
|
0.00003
|
NM_000238.4(KCNH2):c.504C>G (p.Pro168=)
|
rs547228640
|
0.00003
|
NM_000238.4(KCNH2):c.6G>A (p.Pro2=)
|
rs976831436
|
0.00003
|
NM_000719.7(CACNA1C):c.1467C>T (p.Cys489=)
|
rs781074075
|
0.00003
|
NM_000719.7(CACNA1C):c.1486C>T (p.Arg496Trp)
|
rs760888275
|
0.00003
|
NM_000719.7(CACNA1C):c.1649A>G (p.Asn550Ser)
|
rs781306162
|
0.00003
|
NM_000719.7(CACNA1C):c.1693G>A (p.Ala565Thr)
|
rs777945001
|
0.00003
|
NM_000719.7(CACNA1C):c.1782C>T (p.Phe594=)
|
rs374976163
|
0.00003
|
NM_000719.7(CACNA1C):c.1797C>T (p.Gly599=)
|
rs367614356
|
0.00003
|
NM_000719.7(CACNA1C):c.1863C>T (p.Cys621=)
|
rs747010529
|
0.00003
|
NM_000719.7(CACNA1C):c.1980C>A (p.Leu660=)
|
rs754356413
|
0.00003
|
NM_000719.7(CACNA1C):c.2229C>A (p.Ile743=)
|
rs759734767
|
0.00003
|
NM_000719.7(CACNA1C):c.241C>A (p.Arg81=)
|
rs745759667
|
0.00003
|
NM_000719.7(CACNA1C):c.2486A>G (p.Asn829Ser)
|
rs773015884
|
0.00003
|
NM_000719.7(CACNA1C):c.258T>C (p.Tyr86=)
|
rs776280284
|
0.00003
|
NM_000719.7(CACNA1C):c.2793+7A>G
|
rs371643663
|
0.00003
|
NM_000719.7(CACNA1C):c.2853+212T>C
|
rs188733100
|
0.00003
|
NM_000719.7(CACNA1C):c.285C>T (p.Thr95=)
|
rs768096981
|
0.00003
|
NM_000719.7(CACNA1C):c.2961-5C>T
|
rs781703710
|
0.00003
|
NM_000719.7(CACNA1C):c.3157-7C>T
|
rs759274364
|
0.00003
|
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=)
|
rs754527651
|
0.00003
|
NM_000719.7(CACNA1C):c.3558+9C>T
|
rs866480818
|
0.00003
|
NM_000719.7(CACNA1C):c.3828+11G>A
|
rs745632403
|
0.00003
|
NM_000719.7(CACNA1C):c.3829-9C>T
|
rs762649453
|
0.00003
|
NM_000719.7(CACNA1C):c.4050G>A (p.Leu1350=)
|
rs371640459
|
0.00003
|
NM_000719.7(CACNA1C):c.4727-10C>T
|
rs749903718
|
0.00003
|
NM_000719.7(CACNA1C):c.49+7C>G
|
rs779393130
|
0.00003
|
NM_000719.7(CACNA1C):c.4956+13G>A
|
rs199753929
|
0.00003
|
NM_000719.7(CACNA1C):c.4956+16C>T
|
rs781417944
|
0.00003
|
NM_000719.7(CACNA1C):c.5091+8G>A
|
rs768117202
|
0.00003
|
NM_000719.7(CACNA1C):c.5092-5T>C
|
rs760689991
|
0.00003
|
NM_000719.7(CACNA1C):c.5118C>T (p.His1706=)
|
rs372547992
|
0.00003
|
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser)
|
rs533676935
|
0.00003
|
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=)
|
rs530924728
|
0.00003
|
NM_000719.7(CACNA1C):c.5382C>T (p.His1794=)
|
rs377680168
|
0.00003
|
NM_000719.7(CACNA1C):c.5408G>A (p.Arg1803Gln)
|
rs201918158
|
0.00003
|
NM_000719.7(CACNA1C):c.5445-10G>A
|
rs368236368
|
0.00003
|
NM_000719.7(CACNA1C):c.5492C>T (p.Thr1831Met)
|
rs186015395
|
0.00003
|
NM_000719.7(CACNA1C):c.5493G>A (p.Thr1831=)
|
rs368046891
|
0.00003
|
NM_000719.7(CACNA1C):c.5680+7G>A
|
rs561730431
|
0.00003
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
NM_000719.7(CACNA1C):c.5895C>T (p.Pro1965=)
|
rs200227029
|
0.00003
|
NM_000719.7(CACNA1C):c.6030A>G (p.Arg2010=)
|
rs372555640
|
0.00003
|
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn)
|
rs373503739
|
0.00003
|
NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro)
|
rs758974396
|
0.00003
|
NM_000719.7(CACNA1C):c.6329G>T (p.Gly2110Val)
|
rs745731628
|
0.00003
|
NM_000719.7(CACNA1C):c.6369G>A (p.Pro2123=)
|
rs201211211
|
0.00003
|
NM_000719.7(CACNA1C):c.65G>T (p.Ser22Ile)
|
rs769703001
|
0.00003
|
NM_000890.5(KCNJ5):c.1230T>G (p.Gly410=)
|
rs772009654
|
0.00003
|
NM_000890.5(KCNJ5):c.351C>T (p.Asp117=)
|
rs765873474
|
0.00003
|
NM_000890.5(KCNJ5):c.405C>T (p.Gly135=)
|
rs1249014742
|
0.00003
|
NM_000890.5(KCNJ5):c.438C>T (p.Thr146=)
|
rs140697732
|
0.00003
|
NM_000890.5(KCNJ5):c.591G>A (p.Ala197=)
|
rs750048771
|
0.00003
|
NM_000890.5(KCNJ5):c.615C>T (p.Asn205=)
|
rs370546974
|
0.00003
|
NM_000890.5(KCNJ5):c.795C>T (p.Asp265=)
|
rs757895735
|
0.00003
|
NM_000891.3(KCNJ2):c.1206G>A (p.Thr402=)
|
rs1279223538
|
0.00003
|
NM_000891.3(KCNJ2):c.1227C>T (p.His409=)
|
rs933444870
|
0.00003
|
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)
|
rs749707062
|
0.00003
|
NM_000891.3(KCNJ2):c.513C>T (p.Ile171=)
|
rs573888708
|
0.00003
|
NM_001106.4(ACVR2B):c.366G>A (p.Pro122=)
|
rs551737290
|
0.00003
|
NM_001148.6(ANK2):c.10641T>C (p.Ile3547=)
|
rs377212743
|
0.00003
|
NM_001148.6(ANK2):c.10743C>T (p.Gly3581=)
|
rs1224768492
|
0.00003
|
NM_001148.6(ANK2):c.10924C>A (p.Arg3642=)
|
rs757033443
|
0.00003
|
NM_001148.6(ANK2):c.11118C>T (p.Cys3706=)
|
rs1431671939
|
0.00003
|
NM_001148.6(ANK2):c.11256T>C (p.Asp3752=)
|
rs956234289
|
0.00003
|
NM_001148.6(ANK2):c.1173G>A (p.Pro391=)
|
rs755621902
|
0.00003
|
NM_001148.6(ANK2):c.1189-5C>T
|
rs779990637
|
0.00003
|
NM_001148.6(ANK2):c.1698C>T (p.Pro566=)
|
rs764406723
|
0.00003
|
NM_001148.6(ANK2):c.1824C>T (p.Asn608=)
|
rs778848510
|
0.00003
|
NM_001148.6(ANK2):c.2781G>C (p.Val927=)
|
rs534751969
|
0.00003
|
NM_001148.6(ANK2):c.3592-8T>A
|
rs771376396
|
0.00003
|
NM_001148.6(ANK2):c.4206T>C (p.Ser1402=)
|
rs769675138
|
0.00003
|
NM_001148.6(ANK2):c.4260G>A (p.Thr1420=)
|
rs571896168
|
0.00003
|
NM_001148.6(ANK2):c.5388C>T (p.Asp1796=)
|
rs374140329
|
0.00003
|
NM_001148.6(ANK2):c.5760G>A (p.Gly1920=)
|
rs370865498
|
0.00003
|
NM_001148.6(ANK2):c.5826C>T (p.Ser1942=)
|
rs368036068
|
0.00003
|
NM_001148.6(ANK2):c.6662G>A (p.Gly2221Glu)
|
rs185384934
|
0.00003
|
NM_001148.6(ANK2):c.7221A>G (p.Gln2407=)
|
rs776036456
|
0.00003
|
NM_001148.6(ANK2):c.7245C>T (p.Ser2415=)
|
rs762603334
|
0.00003
|
NM_001148.6(ANK2):c.7500G>A (p.Thr2500=)
|
rs374941639
|
0.00003
|
NM_001148.6(ANK2):c.7569G>A (p.Glu2523=)
|
rs1053383831
|
0.00003
|
NM_001148.6(ANK2):c.8550G>A (p.Leu2850=)
|
rs748855197
|
0.00003
|
NM_001148.6(ANK2):c.8814T>A (p.Ser2938=)
|
rs759775013
|
0.00003
|
NM_001148.6(ANK2):c.9474G>A (p.Pro3158=)
|
rs145111737
|
0.00003
|
NM_001148.6(ANK2):c.9939C>T (p.Thr3313=)
|
rs562895246
|
0.00003
|
NM_001276345.2(TNNT2):c.164-14C>T
|
rs778709814
|
0.00003
|
NM_001276345.2(TNNT2):c.435C>T (p.Ala145=)
|
rs375675827
|
0.00003
|
NM_001276345.2(TNNT2):c.52+12C>T
|
rs199865577
|
0.00003
|
NM_001276345.2(TNNT2):c.552G>A (p.Lys184=)
|
rs566113559
|
0.00003
|
NM_001276345.2(TNNT2):c.601-6G>A
|
rs760197357
|
0.00003
|
NM_001276345.2(TNNT2):c.96C>T (p.Asp32=)
|
rs751728017
|
0.00003
|
NM_001308093.3(GATA4):c.1206G>A (p.Ser402=)
|
rs141909277
|
0.00003
|
NM_001308093.3(GATA4):c.762G>A (p.Pro254=)
|
rs143454176
|
0.00003
|
NM_001308093.3(GATA4):c.930A>G (p.Ala310=)
|
rs779911000
|
0.00003
|
NM_001386795.1(DTNA):c.149-15C>G
|
rs752608761
|
0.00003
|
NM_001386795.1(DTNA):c.449-19T>G
|
rs1469662484
|
0.00003
|
NM_001386795.1(DTNA):c.68-7G>A
|
rs372126412
|
0.00003
|
NM_001743.6(CALM2):c.348G>A (p.Lys116=)
|
rs546507069
|
0.00003
|
NM_001743.6(CALM2):c.4-10C>T
|
rs375578672
|
0.00003
|
NM_003098.3(SNTA1):c.114C>T (p.Asp38=)
|
rs780018849
|
0.00003
|
NM_003098.3(SNTA1):c.1238-11C>T
|
rs779500941
|
0.00003
|
NM_003098.3(SNTA1):c.255G>C (p.Arg85=)
|
rs1335742203
|
0.00003
|
NM_003098.3(SNTA1):c.310+19G>A
|
rs554224001
|
0.00003
|
NM_004387.4(NKX2-5):c.755C>T (p.Ala252Val)
|
rs762090105
|
0.00003
|
NM_004387.4(NKX2-5):c.771G>T (p.Pro257=)
|
rs762428190
|
0.00003
|
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr)
|
rs587782931
|
0.00003
|
NM_004387.4(NKX2-5):c.939G>A (p.Ser313=)
|
rs748311298
|
0.00003
|
NM_005159.5(ACTC1):c.270C>T (p.His90=)
|
rs138812333
|
0.00003
|
NM_005159.5(ACTC1):c.300C>T (p.Pro100=)
|
rs141322728
|
0.00003
|
NM_005159.5(ACTC1):c.399C>T (p.Ala133=)
|
rs764630691
|
0.00003
|
NM_005159.5(ACTC1):c.498C>T (p.Pro166=)
|
rs370082904
|
0.00003
|
NM_005159.5(ACTC1):c.51G>A (p.Gly17=)
|
rs993704001
|
0.00003
|
NM_005184.4(CALM3):c.35-13C>G
|
rs369539598
|
0.00003
|
NM_005257.6(GATA6):c.786C>A (p.Arg262=)
|
rs1437667524
|
0.00003
|
NM_005257.6(GATA6):c.949C>A (p.Arg317=)
|
rs1249153916
|
0.00003
|
NM_005751.5(AKAP9):c.1203C>T (p.Val401=)
|
rs748951815
|
0.00003
|
NM_005751.5(AKAP9):c.1269A>G (p.Glu423=)
|
rs1409141394
|
0.00003
|
NM_005751.5(AKAP9):c.1890A>G (p.Leu630=)
|
rs200976922
|
0.00003
|
NM_005751.5(AKAP9):c.2349A>G (p.Glu783=)
|
rs61757667
|
0.00003
|
NM_005751.5(AKAP9):c.3447G>A (p.Glu1149=)
|
rs779022140
|
0.00003
|
NM_005751.5(AKAP9):c.3751+16C>G
|
rs769984472
|
0.00003
|
NM_005751.5(AKAP9):c.4143G>A (p.Pro1381=)
|
rs754974720
|
0.00003
|
NM_005751.5(AKAP9):c.4815G>A (p.Thr1605=)
|
rs141237587
|
0.00003
|
NM_005751.5(AKAP9):c.4872A>G (p.Glu1624=)
|
rs570384292
|
0.00003
|
NM_005751.5(AKAP9):c.5565A>G (p.Glu1855=)
|
rs141094356
|
0.00003
|
NM_005751.5(AKAP9):c.576+18G>T
|
rs1428653311
|
0.00003
|
NM_005751.5(AKAP9):c.5928G>A (p.Leu1976=)
|
rs142251048
|
0.00003
|
NM_005751.5(AKAP9):c.6720T>C (p.Ser2240=)
|
rs762890144
|
0.00003
|
NM_005751.5(AKAP9):c.7026G>A (p.Lys2342=)
|
rs763275688
|
0.00003
|
NM_005751.5(AKAP9):c.7281A>G (p.Thr2427=)
|
rs145915675
|
0.00003
|
NM_005751.5(AKAP9):c.7572C>T (p.Asp2524=)
|
rs1004449825
|
0.00003
|
NM_005751.5(AKAP9):c.8205A>G (p.Gln2735=)
|
rs780002980
|
0.00003
|
NM_015335.5(MED13L):c.1124A>G (p.His375Arg)
|
rs376059806
|
0.00003
|
NM_015335.5(MED13L):c.1855T>G (p.Cys619Gly)
|
rs1345208839
|
0.00003
|
NM_015335.5(MED13L):c.2196A>G (p.Lys732=)
|
rs545013557
|
0.00003
|
NM_015335.5(MED13L):c.2470-13C>T
|
rs757038374
|
0.00003
|
NM_015335.5(MED13L):c.2913G>T (p.Leu971=)
|
rs201948814
|
0.00003
|
NM_015335.5(MED13L):c.3752G>A (p.Arg1251His)
|
rs142574863
|
0.00003
|
NM_015335.5(MED13L):c.3819G>A (p.Thr1273=)
|
rs542711978
|
0.00003
|
NM_015335.5(MED13L):c.564A>G (p.Pro188=)
|
rs370983626
|
0.00003
|
NM_015335.5(MED13L):c.5850G>A (p.Leu1950=)
|
rs1482014512
|
0.00003
|
NM_015335.5(MED13L):c.626-10C>A
|
rs776407123
|
0.00003
|
NM_015335.5(MED13L):c.626-4A>G
|
rs768048151
|
0.00003
|
NM_015335.5(MED13L):c.672A>T (p.Ala224=)
|
rs756122556
|
0.00003
|
NM_015335.5(MED13L):c.72+10C>T
|
rs779448093
|
0.00003
|
NM_021005.4(NR2F2):c.843C>T (p.Ser281=)
|
rs1006491294
|
0.00003
|
NM_022114.4(PRDM16):c.1032+15G>A
|
rs757603329
|
0.00003
|
NM_022114.4(PRDM16):c.1080C>T (p.His360=)
|
rs761160322
|
0.00003
|
NM_022114.4(PRDM16):c.1962G>A (p.Ala654=)
|
rs376206605
|
0.00003
|
NM_022114.4(PRDM16):c.2049G>A (p.Leu683=)
|
rs374601479
|
0.00003
|
NM_022114.4(PRDM16):c.204C>T (p.Tyr68=)
|
rs930898977
|
0.00003
|
NM_022114.4(PRDM16):c.2259C>T (p.Ala753=)
|
rs548246861
|
0.00003
|
NM_022114.4(PRDM16):c.2934G>A (p.Pro978=)
|
rs372850015
|
0.00003
|
NM_022114.4(PRDM16):c.306G>A (p.Arg102=)
|
rs1312935714
|
0.00003
|
NM_022114.4(PRDM16):c.3109+11C>T
|
rs757749746
|
0.00003
|
NM_022114.4(PRDM16):c.3110-5C>T
|
rs377426436
|
0.00003
|
NM_022114.4(PRDM16):c.3144G>T (p.Leu1048=)
|
rs193241720
|
0.00003
|
NM_022114.4(PRDM16):c.318C>T (p.Ala106=)
|
rs749938760
|
0.00003
|
NM_022114.4(PRDM16):c.3492C>T (p.Ser1164=)
|
rs1023870233
|
0.00003
|
NM_022114.4(PRDM16):c.3697-5G>A
|
rs757211426
|
0.00003
|
NM_022114.4(PRDM16):c.687G>A (p.Thr229=)
|
rs773103874
|
0.00003
|
NM_022114.4(PRDM16):c.756G>A (p.Thr252=)
|
rs775660693
|
0.00003
|
NM_022114.4(PRDM16):c.843C>T (p.His281=)
|
rs201199516
|
0.00003
|
NM_022114.4(PRDM16):c.912G>A (p.Thr304=)
|
rs371323418
|
0.00003
|
NM_033337.3(CAV3):c.135C>T (p.Ile45=)
|
rs115593543
|
0.00003
|
NM_145054.5(CFAP52):c.531T>A (p.Ala177=)
|
rs771541433
|
0.00003
|
NM_145054.5(CFAP52):c.873C>T (p.Gly291=)
|
rs762482958
|
0.00003
|
NM_172201.2(KCNE2):c.75T>C (p.Asn25=)
|
rs372013275
|
0.00003
|
NM_174934.4(SCN4B):c.372C>T (p.Ser124=)
|
rs1208629284
|
0.00003
|
NM_174934.4(SCN4B):c.62-13G>A
|
rs747651845
|
0.00003
|
NM_000218.3(KCNQ1):c.1128+5G>A
|
rs76735093
|
0.00002
|
NM_000218.3(KCNQ1):c.1252-15T>C
|
rs367880913
|
0.00002
|
NM_000218.3(KCNQ1):c.1386C>T (p.Asp462=)
|
rs749631604
|
0.00002
|
NM_000218.3(KCNQ1):c.1591-4G>A
|
rs555518358
|
0.00002
|
NM_000218.3(KCNQ1):c.1685+8C>T
|
rs768101676
|
0.00002
|
NM_000218.3(KCNQ1):c.1725C>T (p.Ser575=)
|
rs199561157
|
0.00002
|
NM_000218.3(KCNQ1):c.1794+10C>T
|
rs558507741
|
0.00002
|
NM_000218.3(KCNQ1):c.1795-10G>A
|
rs780067234
|
0.00002
|
NM_000218.3(KCNQ1):c.1827C>T (p.Ile609=)
|
rs377553748
|
0.00002
|
NM_000218.3(KCNQ1):c.1935C>T (p.Gly645=)
|
rs753256738
|
0.00002
|
NM_000218.3(KCNQ1):c.345G>A (p.Glu115=)
|
rs758960211
|
0.00002
|
NM_000218.3(KCNQ1):c.386+9C>A
|
rs766453921
|
0.00002
|
NM_000218.3(KCNQ1):c.387-9G>C
|
rs751000500
|
0.00002
|
NM_000218.3(KCNQ1):c.417C>T (p.Phe139=)
|
rs149143353
|
0.00002
|
NM_000218.3(KCNQ1):c.507G>A (p.Thr169=)
|
rs375845797
|
0.00002
|
NM_000218.3(KCNQ1):c.525C>T (p.Leu175=)
|
rs751902200
|
0.00002
|
NM_000218.3(KCNQ1):c.604+9T>C
|
rs758164749
|
0.00002
|
NM_000218.3(KCNQ1):c.642C>T (p.Cys214=)
|
rs775479779
|
0.00002
|
NM_000218.3(KCNQ1):c.678C>G (p.Ala226=)
|
rs771489129
|
0.00002
|
NM_000218.3(KCNQ1):c.921+13C>T
|
rs576305241
|
0.00002
|
NM_000218.3(KCNQ1):c.948G>C (p.Gly316=)
|
rs727505231
|
0.00002
|
NM_000219.6(KCNE1):c.117C>T (p.Asp39=)
|
rs368465967
|
0.00002
|
NM_000219.6(KCNE1):c.174C>G (p.Thr58=)
|
rs727503101
|
0.00002
|
NM_000219.6(KCNE1):c.298C>T (p.Leu100=)
|
rs140643047
|
0.00002
|
NM_000219.6(KCNE1):c.312G>A (p.Arg104=)
|
rs746628151
|
0.00002
|
NM_000219.6(KCNE1):c.314C>T (p.Ser105Leu)
|
rs780041404
|
0.00002
|
NM_000219.6(KCNE1):c.375G>A (p.Thr125=)
|
rs767686634
|
0.00002
|
NM_000219.6(KCNE1):c.9G>A (p.Leu3=)
|
rs868666103
|
0.00002
|
NM_000238.4(KCNH2):c.1149C>T (p.Asp383=)
|
rs201995634
|
0.00002
|
NM_000238.4(KCNH2):c.1158T>C (p.Pro386=)
|
rs749161732
|
0.00002
|
NM_000238.4(KCNH2):c.120C>T (p.Ala40=)
|
rs146715185
|
0.00002
|
NM_000238.4(KCNH2):c.1374C>T (p.Ile458=)
|
rs764322241
|
0.00002
|
NM_000238.4(KCNH2):c.1425C>T (p.Tyr475=)
|
rs760584131
|
0.00002
|
NM_000238.4(KCNH2):c.1551T>C (p.Ser517=)
|
rs770283713
|
0.00002
|
NM_000238.4(KCNH2):c.1558-6C>T
|
rs777107971
|
0.00002
|
NM_000238.4(KCNH2):c.1572G>A (p.Leu524=)
|
rs372089646
|
0.00002
|
NM_000238.4(KCNH2):c.1602C>T (p.Arg534=)
|
rs369102529
|
0.00002
|
NM_000238.4(KCNH2):c.2146-14C>A
|
rs971275958
|
0.00002
|
NM_000238.4(KCNH2):c.2190G>A (p.Leu730=)
|
rs1401248493
|
0.00002
|
NM_000238.4(KCNH2):c.2193C>T (p.His731=)
|
rs755252767
|
0.00002
|
NM_000238.4(KCNH2):c.2238C>G (p.Ala746=)
|
rs765110115
|
0.00002
|
NM_000238.4(KCNH2):c.2475C>T (p.Leu825=)
|
rs149367419
|
0.00002
|
NM_000238.4(KCNH2):c.249G>A (p.Ala83=)
|
rs963871771
|
0.00002
|
NM_000238.4(KCNH2):c.2693-6C>T
|
rs1469748213
|
0.00002
|
NM_000238.4(KCNH2):c.2751G>A (p.Pro917=)
|
rs1404614771
|
0.00002
|
NM_000238.4(KCNH2):c.2965+7C>T
|
rs754828103
|
0.00002
|
NM_000238.4(KCNH2):c.2965+8G>A
|
rs749079285
|
0.00002
|
NM_000238.4(KCNH2):c.2967C>T (p.Gly989=)
|
rs759887868
|
0.00002
|
NM_000238.4(KCNH2):c.3075C>T (p.Ile1025=)
|
rs76547432
|
0.00002
|
NM_000238.4(KCNH2):c.3153-10C>A
|
rs781609392
|
0.00002
|
NM_000238.4(KCNH2):c.3153-6C>T
|
rs970093127
|
0.00002
|
NM_000238.4(KCNH2):c.3252G>A (p.Pro1084=)
|
rs753375396
|
0.00002
|
NM_000238.4(KCNH2):c.3255G>T (p.Gly1085=)
|
rs1005325992
|
0.00002
|
NM_000238.4(KCNH2):c.351C>T (p.Asn117=)
|
rs757132095
|
0.00002
|
NM_000238.4(KCNH2):c.39C>T (p.Thr13=)
|
rs776189512
|
0.00002
|
NM_000238.4(KCNH2):c.447C>T (p.Gly149=)
|
rs1004321690
|
0.00002
|
NM_000238.4(KCNH2):c.524C>A (p.Ala175Asp)
|
rs776541110
|
0.00002
|
NM_000238.4(KCNH2):c.76+18C>T
|
rs749396597
|
0.00002
|
NM_000238.4(KCNH2):c.817C>A (p.Arg273=)
|
rs552583527
|
0.00002
|
NM_000238.4(KCNH2):c.917-8C>G
|
rs41313086
|
0.00002
|
NM_000238.4(KCNH2):c.939C>T (p.Ser313=)
|
rs778439539
|
0.00002
|
NM_000719.7(CACNA1C):c.1053C>T (p.Phe351=)
|
rs182805644
|
0.00002
|
NM_000719.7(CACNA1C):c.1125C>T (p.Ala375=)
|
rs1131652
|
0.00002
|
NM_000719.7(CACNA1C):c.123G>A (p.Glu41=)
|
rs981806518
|
0.00002
|
NM_000719.7(CACNA1C):c.1669+7G>A
|
rs772951246
|
0.00002
|
NM_000719.7(CACNA1C):c.1689G>C (p.Leu563=)
|
rs372908090
|
0.00002
|
NM_000719.7(CACNA1C):c.1729A>G (p.Ser577Gly)
|
rs772171893
|
0.00002
|
NM_000719.7(CACNA1C):c.1785C>T (p.Val595=)
|
rs755436625
|
0.00002
|
NM_000719.7(CACNA1C):c.1895+20A>G
|
rs757376156
|
0.00002
|
NM_000719.7(CACNA1C):c.1968T>A (p.Leu656=)
|
rs375950982
|
0.00002
|
NM_000719.7(CACNA1C):c.2224+20C>A
|
rs777194958
|
0.00002
|
NM_000719.7(CACNA1C):c.2225-15A>G
|
rs774706225
|
0.00002
|
NM_000719.7(CACNA1C):c.2325A>G (p.Arg775=)
|
rs1280678164
|
0.00002
|
NM_000719.7(CACNA1C):c.2382G>A (p.Pro794=)
|
rs371978680
|
0.00002
|
NM_000719.7(CACNA1C):c.2437G>A (p.Gly813Arg)
|
rs545511851
|
0.00002
|
NM_000719.7(CACNA1C):c.2634C>T (p.Ser878=)
|
rs752800134
|
0.00002
|
NM_000719.7(CACNA1C):c.2824A>G (p.Thr942Ala)
|
rs369884505
|
0.00002
|
NM_000719.7(CACNA1C):c.2853+11C>T
|
rs1319241844
|
0.00002
|
NM_000719.7(CACNA1C):c.2853+9C>G
|
rs774649223
|
0.00002
|
NM_000719.7(CACNA1C):c.3072C>T (p.Val1024=)
|
rs566310000
|
0.00002
|
NM_000719.7(CACNA1C):c.3138C>T (p.Ile1046=)
|
rs373517122
|
0.00002
|
NM_000719.7(CACNA1C):c.3285G>A (p.Lys1095=)
|
rs900491834
|
0.00002
|
NM_000719.7(CACNA1C):c.3483C>T (p.Phe1161=)
|
rs367790910
|
0.00002
|
NM_000719.7(CACNA1C):c.3654C>T (p.Ser1218=)
|
rs776884902
|
0.00002
|
NM_000719.7(CACNA1C):c.372-9C>G
|
rs367763190
|
0.00002
|
NM_000719.7(CACNA1C):c.3732C>T (p.Ser1244=)
|
rs760173547
|
0.00002
|
NM_000719.7(CACNA1C):c.3789C>A (p.Thr1263=)
|
rs765393806
|
0.00002
|
NM_000719.7(CACNA1C):c.3912+14G>A
|
rs372728453
|
0.00002
|
NM_000719.7(CACNA1C):c.3930A>G (p.Gln1310=)
|
rs369262825
|
0.00002
|
NM_000719.7(CACNA1C):c.4074+19C>T
|
rs779341594
|
0.00002
|
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=)
|
rs769295096
|
0.00002
|
NM_000719.7(CACNA1C):c.4242C>T (p.Thr1414=)
|
rs773062528
|
0.00002
|
NM_000719.7(CACNA1C):c.4578G>A (p.Pro1526=)
|
rs376555924
|
0.00002
|
NM_000719.7(CACNA1C):c.460G>A (p.Ala154Thr)
|
rs1064796583
|
0.00002
|
NM_000719.7(CACNA1C):c.513G>A (p.Thr171=)
|
rs769915094
|
0.00002
|
NM_000719.7(CACNA1C):c.5148C>T (p.Ser1716=)
|
rs371262001
|
0.00002
|
NM_000719.7(CACNA1C):c.5217C>T (p.Asp1739=)
|
rs864622139
|
0.00002
|
NM_000719.7(CACNA1C):c.5236G>A (p.Glu1746Lys)
|
rs759468937
|
0.00002
|
NM_000719.7(CACNA1C):c.5283C>T (p.Thr1761=)
|
rs747358417
|
0.00002
|
NM_000719.7(CACNA1C):c.5329C>T (p.Arg1777Cys)
|
rs775251529
|
0.00002
|
NM_000719.7(CACNA1C):c.5331C>T (p.Arg1777=)
|
rs587780880
|
0.00002
|
NM_000719.7(CACNA1C):c.5445-17dup
|
rs752372266
|
0.00002
|
NM_000719.7(CACNA1C):c.54C>T (p.Ser18=)
|
rs2083379050
|
0.00002
|
NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln)
|
rs753954220
|
0.00002
|
NM_000719.7(CACNA1C):c.5688G>A (p.Arg1896=)
|
rs757426840
|
0.00002
|
NM_000719.7(CACNA1C):c.5906T>C (p.Val1969Ala)
|
rs1298514198
|
0.00002
|
NM_000719.7(CACNA1C):c.594A>G (p.Leu198=)
|
rs778711543
|
0.00002
|
NM_000719.7(CACNA1C):c.5957G>A (p.Ser1986Asn)
|
rs755280013
|
0.00002
|
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile)
|
rs532551057
|
0.00002
|
NM_000719.7(CACNA1C):c.6111G>A (p.Val2037=)
|
rs758922114
|
0.00002
|
NM_000719.7(CACNA1C):c.6234C>T (p.Ala2078=)
|
rs774966357
|
0.00002
|
NM_000719.7(CACNA1C):c.6282C>G (p.Leu2094=)
|
rs1337662531
|
0.00002
|
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=)
|
rs527741368
|
0.00002
|
NM_000719.7(CACNA1C):c.705G>A (p.Ala235=)
|
rs775314673
|
0.00002
|
NM_000719.7(CACNA1C):c.71G>A (p.Arg24His)
|
rs200941579
|
0.00002
|
NM_000719.7(CACNA1C):c.758-7C>T
|
rs892807484
|
0.00002
|
NM_000719.7(CACNA1C):c.810C>T (p.His270=)
|
rs780247399
|
0.00002
|
NM_000719.7(CACNA1C):c.813C>T (p.Ile271=)
|
rs747169285
|
0.00002
|
NM_000719.7(CACNA1C):c.864G>A (p.Glu288=)
|
rs749309131
|
0.00002
|
NM_000890.5(KCNJ5):c.10G>A (p.Asp4Asn)
|
rs529755922
|
0.00002
|
NM_000890.5(KCNJ5):c.1190A>G (p.Glu397Gly)
|
rs780934792
|
0.00002
|
NM_000890.5(KCNJ5):c.447C>T (p.Thr149=)
|
rs140491115
|
0.00002
|
NM_000890.5(KCNJ5):c.492G>T (p.Gly164=)
|
rs540291475
|
0.00002
|
NM_000890.5(KCNJ5):c.687C>T (p.Ile229=)
|
rs149327599
|
0.00002
|
NM_000891.3(KCNJ2):c.1002G>A (p.Lys334=)
|
rs372264881
|
0.00002
|
NM_000891.3(KCNJ2):c.282G>A (p.Leu94=)
|
rs776798798
|
0.00002
|
NM_000891.3(KCNJ2):c.411T>C (p.Ile137=)
|
rs775567368
|
0.00002
|
NM_000891.3(KCNJ2):c.858C>T (p.Asp286=)
|
rs142750807
|
0.00002
|
NM_000891.3(KCNJ2):c.882C>T (p.Ile294=)
|
rs751279819
|
0.00002
|
NM_001148.6(ANK2):c.1020C>T (p.Ala340=)
|
rs757576841
|
0.00002
|
NM_001148.6(ANK2):c.1043T>C (p.Val348Ala)
|
rs758931317
|
0.00002
|
NM_001148.6(ANK2):c.11652A>G (p.Glu3884=)
|
rs752145926
|
0.00002
|
NM_001148.6(ANK2):c.11685G>A (p.Val3895=)
|
rs747044770
|
0.00002
|
NM_001148.6(ANK2):c.11862C>T (p.Asp3954=)
|
rs755240882
|
0.00002
|
NM_001148.6(ANK2):c.1387-8C>T
|
rs748602773
|
0.00002
|
NM_001148.6(ANK2):c.1485+19A>G
|
rs3025731
|
0.00002
|
NM_001148.6(ANK2):c.1680C>T (p.Thr560=)
|
rs752903781
|
0.00002
|
NM_001148.6(ANK2):c.1710A>G (p.Ala570=)
|
rs757515084
|
0.00002
|
NM_001148.6(ANK2):c.2430C>T (p.Val810=)
|
rs766919590
|
0.00002
|
NM_001148.6(ANK2):c.2549-11A>G
|
rs1481767332
|
0.00002
|
NM_001148.6(ANK2):c.2643G>A (p.Leu881=)
|
rs936820651
|
0.00002
|
NM_001148.6(ANK2):c.286-18T>C
|
rs760621803
|
0.00002
|
NM_001148.6(ANK2):c.2901-13T>C
|
rs45604840
|
0.00002
|
NM_001148.6(ANK2):c.297C>T (p.Thr99=)
|
rs587780851
|
0.00002
|
NM_001148.6(ANK2):c.312A>G (p.Ala104=)
|
rs140254310
|
0.00002
|
NM_001148.6(ANK2):c.4074T>C (p.Leu1358=)
|
rs759582929
|
0.00002
|
NM_001148.6(ANK2):c.435T>C (p.Val145=)
|
rs1402032181
|
0.00002
|
NM_001148.6(ANK2):c.4791T>C (p.Asp1597=)
|
rs760330010
|
0.00002
|
NM_001148.6(ANK2):c.4974T>G (p.Val1658=)
|
rs746886469
|
0.00002
|
NM_001148.6(ANK2):c.7575A>G (p.Thr2525=)
|
rs750595595
|
0.00002
|
NM_001148.6(ANK2):c.7728C>T (p.Asn2576=)
|
rs374771370
|
0.00002
|
NM_001148.6(ANK2):c.7785C>A (p.Ile2595=)
|
rs780285975
|
0.00002
|
NM_001148.6(ANK2):c.7965G>A (p.Ser2655=)
|
rs745838946
|
0.00002
|
NM_001148.6(ANK2):c.8139C>T (p.Val2713=)
|
rs564510599
|
0.00002
|
NM_001148.6(ANK2):c.84+11G>A
|
rs759736399
|
0.00002
|
NM_001148.6(ANK2):c.8643A>G (p.Glu2881=)
|
rs1157740411
|
0.00002
|
NM_001148.6(ANK2):c.9222A>G (p.Gln3074=)
|
rs747032627
|
0.00002
|
NM_001148.6(ANK2):c.9681C>T (p.Thr3227=)
|
rs144466117
|
0.00002
|
NM_001148.6(ANK2):c.991-11T>C
|
rs199730008
|
0.00002
|
NM_001148.6(ANK2):c.9990A>C (p.Leu3330=)
|
rs777870973
|
0.00002
|
NM_001167623.2(CACNA1C):c.1203C>T (p.Leu401=)
|
rs766208314
|
0.00002
|
NM_001276345.2(TNNT2):c.282A>G (p.Arg94=)
|
rs397516453
|
0.00002
|
NM_001276345.2(TNNT2):c.295-13G>A
|
rs764804961
|
0.00002
|
NM_001276345.2(TNNT2):c.391G>A (p.Val131Ile)
|
rs537067344
|
0.00002
|
NM_001276345.2(TNNT2):c.519G>A (p.Glu173=)
|
rs928898709
|
0.00002
|
NM_001276345.2(TNNT2):c.610-15T>A
|
rs950076691
|
0.00002
|
NM_001276345.2(TNNT2):c.63T>G (p.Val21=)
|
rs397516477
|
0.00002
|
NM_001276345.2(TNNT2):c.67+9C>T
|
rs201839711
|
0.00002
|
NM_001276345.2(TNNT2):c.720-6G>A
|
rs113471285
|
0.00002
|
NM_001276345.2(TNNT2):c.84A>G (p.Arg28=)
|
rs370895664
|
0.00002
|
NM_001276345.2(TNNT2):c.98-14C>T
|
rs918945214
|
0.00002
|
NM_001308093.3(GATA4):c.195C>T (p.Gly65=)
|
rs752600136
|
0.00002
|
NM_001308093.3(GATA4):c.459C>T (p.Gly153=)
|
rs1178980770
|
0.00002
|
NM_001308093.3(GATA4):c.486C>T (p.Tyr162=)
|
rs1253695712
|
0.00002
|
NM_001308093.3(GATA4):c.786+15C>T
|
rs374933423
|
0.00002
|
NM_001308093.3(GATA4):c.861G>A (p.Ala287=)
|
rs757208344
|
0.00002
|
NM_001308093.3(GATA4):c.909C>T (p.His303=)
|
rs201516339
|
0.00002
|
NM_001386795.1(DTNA):c.1002-2338C>T
|
rs201631418
|
0.00002
|
NM_001386795.1(DTNA):c.1776C>T (p.Pro592=)
|
rs113072494
|
0.00002
|
NM_001386795.1(DTNA):c.1851G>A (p.Pro617=)
|
rs756382217
|
0.00002
|
NM_001386795.1(DTNA):c.1993+11G>T
|
rs540652495
|
0.00002
|
NM_001386795.1(DTNA):c.1993+9C>T
|
rs573243965
|
0.00002
|
NM_001386795.1(DTNA):c.1994-18T>A
|
rs772589214
|
0.00002
|
NM_001386795.1(DTNA):c.2094G>A (p.Ala698=)
|
rs369914309
|
0.00002
|
NM_001386795.1(DTNA):c.354G>A (p.Ala118=)
|
rs748607011
|
0.00002
|
NM_001386795.1(DTNA):c.362+18G>A
|
rs771172339
|
0.00002
|
NM_001386795.1(DTNA):c.362+9C>T
|
rs778158771
|
0.00002
|
NM_001743.6(CALM2):c.336C>T (p.Asn112=)
|
rs751334551
|
0.00002
|
NM_003098.3(SNTA1):c.1209C>T (p.Ala403=)
|
rs144821472
|
0.00002
|
NM_003098.3(SNTA1):c.1212C>T (p.Ala404=)
|
rs754521867
|
0.00002
|
NM_003098.3(SNTA1):c.1440C>T (p.His480=)
|
rs201485963
|
0.00002
|
NM_003098.3(SNTA1):c.1479C>T (p.Phe493=)
|
rs559827815
|
0.00002
|
NM_003098.3(SNTA1):c.522G>A (p.Pro174=)
|
rs780808390
|
0.00002
|
NM_003098.3(SNTA1):c.702-7C>G
|
rs780688953
|
0.00002
|
NM_003413.4(ZIC3):c.630C>T (p.Tyr210=)
|
rs779878257
|
0.00002
|
NM_004387.4(NKX2-5):c.381G>A (p.Ala127=)
|
rs957139658
|
0.00002
|
NM_004387.4(NKX2-5):c.534G>A (p.Thr178=)
|
rs1315138203
|
0.00002
|
NM_004387.4(NKX2-5):c.898T>C (p.Leu300=)
|
rs761208569
|
0.00002
|
NM_004387.4(NKX2-5):c.915C>T (p.Ser305=)
|
rs760182745
|
0.00002
|
NM_004821.3(HAND1):c.174G>C (p.Ala58=)
|
rs761768832
|
0.00002
|
NM_005159.5(ACTC1):c.180C>T (p.Ala60=)
|
rs370322510
|
0.00002
|
NM_005159.5(ACTC1):c.294G>A (p.Val98=)
|
rs397517058
|
0.00002
|
NM_005159.5(ACTC1):c.333G>A (p.Pro111=)
|
rs774767260
|
0.00002
|
NM_005159.5(ACTC1):c.405C>T (p.Tyr135=)
|
rs181479041
|
0.00002
|
NM_005159.5(ACTC1):c.455-18G>A
|
rs925035661
|
0.00002
|
NM_005159.5(ACTC1):c.456C>T (p.Gly152=)
|
rs771310484
|
0.00002
|
NM_005159.5(ACTC1):c.617-10A>G
|
rs751985418
|
0.00002
|
NM_005159.5(ACTC1):c.809-11C>A
|
rs1175630739
|
0.00002
|
NM_005159.5(ACTC1):c.809-8G>A
|
rs767180775
|
0.00002
|
NM_005159.5(ACTC1):c.903A>G (p.Leu301=)
|
rs138347995
|
0.00002
|
NM_005159.5(ACTC1):c.991-13T>C
|
rs1375741970
|
0.00002
|
NM_005184.4(CALM3):c.178+17G>A
|
rs764944151
|
0.00002
|
NM_005184.4(CALM3):c.35-10C>T
|
rs748438358
|
0.00002
|
NM_005184.4(CALM3):c.354C>T (p.Thr118=)
|
rs750712140
|
0.00002
|
NM_005257.6(GATA6):c.1125T>A (p.Gly375=)
|
rs1203711555
|
0.00002
|
NM_005257.6(GATA6):c.1173G>A (p.Val391=)
|
rs1399740472
|
0.00002
|
NM_005257.6(GATA6):c.1377C>T (p.Ala459=)
|
rs765639422
|
0.00002
|
NM_005257.6(GATA6):c.534A>G (p.Ala178=)
|
rs1166249324
|
0.00002
|
NM_005257.6(GATA6):c.555C>T (p.Ser185=)
|
rs1337642807
|
0.00002
|
NM_005751.5(AKAP9):c.10107T>C (p.Tyr3369=)
|
rs376961682
|
0.00002
|
NM_005751.5(AKAP9):c.10378C>T (p.Leu3460=)
|
rs370129982
|
0.00002
|
NM_005751.5(AKAP9):c.10713+18T>C
|
rs945350718
|
0.00002
|
NM_005751.5(AKAP9):c.10713+20del
|
rs1348883488
|
0.00002
|
NM_005751.5(AKAP9):c.10887T>C (p.Gly3629=)
|
rs761734539
|
0.00002
|
NM_005751.5(AKAP9):c.11307C>T (p.Val3769=)
|
rs955404695
|
0.00002
|
NM_005751.5(AKAP9):c.11330+15G>A
|
rs749274837
|
0.00002
|
NM_005751.5(AKAP9):c.1365A>G (p.Gln455=)
|
rs902008678
|
0.00002
|
NM_005751.5(AKAP9):c.1623G>A (p.Arg541=)
|
rs746045284
|
0.00002
|
NM_005751.5(AKAP9):c.1851A>C (p.Ser617=)
|
rs1228322452
|
0.00002
|
NM_005751.5(AKAP9):c.2407T>C (p.Leu803=)
|
rs759926255
|
0.00002
|
NM_005751.5(AKAP9):c.2604T>C (p.Tyr868=)
|
rs770476104
|
0.00002
|
NM_005751.5(AKAP9):c.339C>T (p.Asp113=)
|
rs1384886142
|
0.00002
|
NM_005751.5(AKAP9):c.48+11C>T
|
rs1206811077
|
0.00002
|
NM_005751.5(AKAP9):c.5223A>G (p.Thr1741=)
|
rs760761631
|
0.00002
|
NM_005751.5(AKAP9):c.5301C>T (p.Ala1767=)
|
rs1060504956
|
0.00002
|
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys)
|
rs376950905
|
0.00002
|
NM_005751.5(AKAP9):c.6906G>A (p.Thr2302=)
|
rs746485312
|
0.00002
|
NM_005751.5(AKAP9):c.723A>G (p.Gln241=)
|
rs748229690
|
0.00002
|
NM_005751.5(AKAP9):c.8181A>T (p.Thr2727=)
|
rs367793038
|
0.00002
|
NM_005751.5(AKAP9):c.8646+7G>T
|
rs776864125
|
0.00002
|
NM_005751.5(AKAP9):c.909G>A (p.Glu303=)
|
rs770983849
|
0.00002
|
NM_005751.5(AKAP9):c.9730-16G>A
|
rs758993863
|
0.00002
|
NM_005751.5(AKAP9):c.9813C>T (p.Asn3271=)
|
rs749572064
|
0.00002
|
NM_006888.6(CALM1):c.285+17A>G
|
rs757946033
|
0.00002
|
NM_015335.5(MED13L):c.1765C>T (p.Leu589Phe)
|
rs372595490
|
0.00002
|
NM_015335.5(MED13L):c.4269G>T (p.Val1423=)
|
rs997965874
|
0.00002
|
NM_015335.5(MED13L):c.4788T>A (p.Ile1596=)
|
rs757338321
|
0.00002
|
NM_015335.5(MED13L):c.479+18T>C
|
rs200912170
|
0.00002
|
NM_015335.5(MED13L):c.5058G>A (p.Thr1686=)
|
rs74757206
|
0.00002
|
NM_015335.5(MED13L):c.5162C>T (p.Ser1721Phe)
|
rs755513948
|
0.00002
|
NM_015335.5(MED13L):c.6486G>A (p.Thr2162=)
|
rs763493523
|
0.00002
|
NM_015335.5(MED13L):c.6549G>A (p.Pro2183=)
|
rs768288594
|
0.00002
|
NM_021005.4(NR2F2):c.443-5C>T
|
rs374487006
|
0.00002
|
NM_022114.4(PRDM16):c.108C>T (p.Asp36=)
|
rs770557050
|
0.00002
|
NM_022114.4(PRDM16):c.1098C>T (p.His366=)
|
rs764582197
|
0.00002
|
NM_022114.4(PRDM16):c.1116G>A (p.Gly372=)
|
rs757093442
|
0.00002
|
NM_022114.4(PRDM16):c.1152C>T (p.His384=)
|
rs1014743652
|
0.00002
|
NM_022114.4(PRDM16):c.1170G>A (p.Thr390=)
|
rs374263452
|
0.00002
|
NM_022114.4(PRDM16):c.1446C>T (p.Ser482=)
|
rs776196845
|
0.00002
|
NM_022114.4(PRDM16):c.1506G>A (p.Thr502=)
|
rs375543158
|
0.00002
|
NM_022114.4(PRDM16):c.1563C>G (p.Ser521=)
|
rs1355664737
|
0.00002
|
NM_022114.4(PRDM16):c.1665C>A (p.Ala555=)
|
rs768209040
|
0.00002
|
NM_022114.4(PRDM16):c.1737C>T (p.Phe579=)
|
rs35579804
|
0.00002
|
NM_022114.4(PRDM16):c.2088C>T (p.Ile696=)
|
rs755442577
|
0.00002
|
NM_022114.4(PRDM16):c.2265A>G (p.Pro755=)
|
rs374005215
|
0.00002
|
NM_022114.4(PRDM16):c.2307C>T (p.Ala769=)
|
rs746000528
|
0.00002
|
NM_022114.4(PRDM16):c.2451C>T (p.Gly817=)
|
rs757162475
|
0.00002
|
NM_022114.4(PRDM16):c.2493C>A (p.Arg831=)
|
rs1185762574
|
0.00002
|
NM_022114.4(PRDM16):c.2667G>A (p.Pro889=)
|
rs774537766
|
0.00002
|
NM_022114.4(PRDM16):c.2754G>A (p.Ser918=)
|
rs1319181975
|
0.00002
|
NM_022114.4(PRDM16):c.2916G>A (p.Thr972=)
|
rs537121344
|
0.00002
|
NM_022114.4(PRDM16):c.3177G>A (p.Ser1059=)
|
rs576168703
|
0.00002
|
NM_022114.4(PRDM16):c.3284+14C>T
|
rs201774450
|
0.00002
|
NM_022114.4(PRDM16):c.3351C>T (p.Asp1117=)
|
rs936932210
|
0.00002
|
NM_022114.4(PRDM16):c.3387C>T (p.Asp1129=)
|
rs1435855185
|
0.00002
|
NM_022114.4(PRDM16):c.360G>A (p.Ala120=)
|
rs775922979
|
0.00002
|
NM_022114.4(PRDM16):c.489G>A (p.Ala163=)
|
rs746338723
|
0.00002
|
NM_022114.4(PRDM16):c.801G>A (p.Glu267=)
|
rs369972213
|
0.00002
|
NM_022114.4(PRDM16):c.884+8_884+38del
|
rs1643499408
|
0.00002
|
NM_033337.3(CAV3):c.147G>A (p.Val49=)
|
rs777363173
|
0.00002
|
NM_033337.3(CAV3):c.243C>T (p.Gly81=)
|
rs564597663
|
0.00002
|
NM_033337.3(CAV3):c.267C>T (p.Gly89=)
|
rs765234409
|
0.00002
|
NM_033337.3(CAV3):c.30G>A (p.Glu10=)
|
rs587780883
|
0.00002
|
NM_033337.3(CAV3):c.438G>A (p.Val146=)
|
rs1575478070
|
0.00002
|
NM_145020.5(CFAP53):c.498T>A (p.Val166=)
|
rs576840719
|
0.00002
|
NM_145020.5(CFAP53):c.69+9A>G
|
rs1226448723
|
0.00002
|
NM_145020.5(CFAP53):c.804T>C (p.His268=)
|
rs763736108
|
0.00002
|
NM_145054.5(CFAP52):c.1257C>T (p.Gly419=)
|
rs768830852
|
0.00002
|
NM_145054.5(CFAP52):c.751T>C (p.Leu251=)
|
rs371814923
|
0.00002
|
NM_172201.2(KCNE2):c.204G>A (p.Leu68=)
|
rs200403369
|
0.00002
|
NM_172201.2(KCNE2):c.348G>A (p.Ala116=)
|
rs16991657
|
0.00002
|
NM_174934.4(SCN4B):c.593+10T>C
|
rs751802844
|
0.00002
|
NM_174934.4(SCN4B):c.627C>T (p.Asp209=)
|
rs371872353
|
0.00002
|
NM_000218.3(KCNQ1):c.1008C>T (p.Ala336=)
|
rs201009813
|
0.00001
|
NM_000218.3(KCNQ1):c.1011C>T (p.Ile337=)
|
rs794728521
|
0.00001
|
NM_000218.3(KCNQ1):c.1023G>A (p.Ala341=)
|
rs772363276
|
0.00001
|
NM_000218.3(KCNQ1):c.1035G>A (p.Gly345=)
|
rs534906627
|
0.00001
|
NM_000218.3(KCNQ1):c.1047G>A (p.Ser349=)
|
rs199630316
|
0.00001
|
NM_000218.3(KCNQ1):c.1096C>A (p.Arg366=)
|
rs199473411
|
0.00001
|
NM_000218.3(KCNQ1):c.1128+13C>A
|
rs1218132232
|
0.00001
|
NM_000218.3(KCNQ1):c.1128+3G>A
|
rs539607508
|
0.00001
|
NM_000218.3(KCNQ1):c.1131C>T (p.Thr377=)
|
rs763723387
|
0.00001
|
NM_000218.3(KCNQ1):c.1140G>A (p.Arg380=)
|
rs199472771
|
0.00001
|
NM_000218.3(KCNQ1):c.114G>C (p.Leu38=)
|
rs1386513213
|
0.00001
|
NM_000218.3(KCNQ1):c.1161C>T (p.Pro387=)
|
rs772078282
|
0.00001
|
NM_000218.3(KCNQ1):c.1164C>T (p.Asp388=)
|
rs555968887
|
0.00001
|
NM_000218.3(KCNQ1):c.1185C>T (p.Tyr395=)
|
rs764870839
|
0.00001
|
NM_000218.3(KCNQ1):c.123G>A (p.Ala41=)
|
rs1450451878
|
0.00001
|
NM_000218.3(KCNQ1):c.1251+9C>A
|
rs373467697
|
0.00001
|
NM_000218.3(KCNQ1):c.1252-11G>T
|
rs773848861
|
0.00001
|
NM_000218.3(KCNQ1):c.1257G>A (p.Lys419=)
|
rs759955554
|
0.00001
|
NM_000218.3(KCNQ1):c.1263A>G (p.Lys421=)
|
rs765645573
|
0.00001
|
NM_000218.3(KCNQ1):c.1281A>G (p.Lys427=)
|
rs763197403
|
0.00001
|
NM_000218.3(KCNQ1):c.129C>T (p.Gly43=)
|
rs1057520400
|
0.00001
|
NM_000218.3(KCNQ1):c.1335C>T (p.Cys445=)
|
rs890238618
|
0.00001
|
NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn)
|
rs149089817
|
0.00001
|
NM_000218.3(KCNQ1):c.1356G>T (p.Arg452=)
|
rs753619991
|
0.00001
|
NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=)
|
rs200418488
|
0.00001
|
NM_000218.3(KCNQ1):c.1425C>T (p.Ser475=)
|
rs562579708
|
0.00001
|
NM_000218.3(KCNQ1):c.1446C>T (p.Thr482=)
|
rs1060503982
|
0.00001
|
NM_000218.3(KCNQ1):c.1514+9C>T
|
rs770840921
|
0.00001
|
NM_000218.3(KCNQ1):c.1563G>A (p.Gln521=)
|
rs1468372406
|
0.00001
|
NM_000218.3(KCNQ1):c.1591-5C>T
|
rs1311166904
|
0.00001
|
NM_000218.3(KCNQ1):c.1608C>T (p.Tyr536=)
|
rs138551008
|
0.00001
|
NM_000218.3(KCNQ1):c.165G>T (p.Ala55=)
|
rs921646979
|
0.00001
|
NM_000218.3(KCNQ1):c.1685+18G>T
|
rs1192048960
|
0.00001
|
NM_000218.3(KCNQ1):c.1685+9G>A
|
rs545535640
|
0.00001
|
NM_000218.3(KCNQ1):c.1686-18C>G
|
rs1846715620
|
0.00001
|
NM_000218.3(KCNQ1):c.1716G>A (p.Leu572=)
|
rs886039093
|
0.00001
|
NM_000218.3(KCNQ1):c.1719C>T (p.Phe573=)
|
rs199472810
|
0.00001
|
NM_000218.3(KCNQ1):c.1728C>T (p.Val576=)
|
rs144363041
|
0.00001
|
NM_000218.3(KCNQ1):c.1764C>T (p.Ile588=)
|
rs377206449
|
0.00001
|
NM_000218.3(KCNQ1):c.177A>G (p.Pro59=)
|
rs1403467559
|
0.00001
|
NM_000218.3(KCNQ1):c.1785A>G (p.Val595=)
|
rs1027750390
|
0.00001
|
NM_000218.3(KCNQ1):c.1794+15C>T
|
rs759410280
|
0.00001
|
NM_000218.3(KCNQ1):c.1795-5C>T
|
rs727503104
|
0.00001
|
NM_000218.3(KCNQ1):c.1795-6C>T
|
rs1412279664
|
0.00001
|
NM_000218.3(KCNQ1):c.1806G>A (p.Leu602=)
|
rs991680454
|
0.00001
|
NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=)
|
rs774101297
|
0.00001
|
NM_000218.3(KCNQ1):c.1851C>T (p.Leu617=)
|
rs962199389
|
0.00001
|
NM_000218.3(KCNQ1):c.1884C>T (p.Gly628=)
|
rs769848998
|
0.00001
|
NM_000218.3(KCNQ1):c.189C>G (p.Pro63=)
|
rs1398693672
|
0.00001
|
NM_000218.3(KCNQ1):c.192T>C (p.Pro64=)
|
rs1360376744
|
0.00001
|
NM_000218.3(KCNQ1):c.1941C>T (p.Ser647=)
|
rs1386852977
|
0.00001
|
NM_000218.3(KCNQ1):c.1998C>T (p.Thr666=)
|
rs775497150
|
0.00001
|
NM_000218.3(KCNQ1):c.222A>G (p.Pro74=)
|
rs1380003005
|
0.00001
|
NM_000218.3(KCNQ1):c.255G>A (p.Val85=)
|
rs766078716
|
0.00001
|
NM_000218.3(KCNQ1):c.267G>A (p.Pro89=)
|
rs907132030
|
0.00001
|
NM_000218.3(KCNQ1):c.297G>C (p.Pro99=)
|
rs778702162
|
0.00001
|
NM_000218.3(KCNQ1):c.301T>C (p.Leu101=)
|
rs1186850886
|
0.00001
|
NM_000218.3(KCNQ1):c.324C>T (p.Gly108=)
|
rs372757312
|
0.00001
|
NM_000218.3(KCNQ1):c.411C>T (p.Leu137=)
|
rs1035435122
|
0.00001
|
NM_000218.3(KCNQ1):c.420C>T (p.Ser140=)
|
rs377520734
|
0.00001
|
NM_000218.3(KCNQ1):c.462G>A (p.Gly154=)
|
rs759593218
|
0.00001
|
NM_000218.3(KCNQ1):c.478-7C>G
|
rs372906106
|
0.00001
|
NM_000218.3(KCNQ1):c.552C>T (p.Tyr184=)
|
rs780231722
|
0.00001
|
NM_000218.3(KCNQ1):c.576C>T (p.Arg192=)
|
rs762267954
|
0.00001
|
NM_000218.3(KCNQ1):c.604+12C>T
|
rs370821907
|
0.00001
|
NM_000218.3(KCNQ1):c.604+16C>T
|
rs746807746
|
0.00001
|
NM_000218.3(KCNQ1):c.604+19G>A
|
rs780717196
|
0.00001
|
NM_000218.3(KCNQ1):c.605-10C>T
|
rs1301374663
|
0.00001
|
NM_000218.3(KCNQ1):c.612C>T (p.Ile204=)
|
rs199473455
|
0.00001
|
NM_000218.3(KCNQ1):c.672G>A (p.Thr224=)
|
rs550887954
|
0.00001
|
NM_000218.3(KCNQ1):c.684-15C>T
|
rs752087023
|
0.00001
|
NM_000218.3(KCNQ1):c.684-17C>T
|
rs1399659408
|
0.00001
|
NM_000218.3(KCNQ1):c.684-5C>T
|
rs1212611138
|
0.00001
|
NM_000218.3(KCNQ1):c.729C>T (p.Arg243=)
|
rs755104170
|
0.00001
|
NM_000218.3(KCNQ1):c.844C>T (p.Leu282=)
|
rs979241598
|
0.00001
|
NM_000218.3(KCNQ1):c.861G>A (p.Ala287=)
|
rs764403483
|
0.00001
|
NM_000218.3(KCNQ1):c.867C>T (p.Asn289=)
|
rs1262523905
|
0.00001
|
NM_000218.3(KCNQ1):c.870G>A (p.Glu290=)
|
rs1438599984
|
0.00001
|
NM_000218.3(KCNQ1):c.888C>T (p.Phe296=)
|
rs768506433
|
0.00001
|
NM_000218.3(KCNQ1):c.897C>T (p.Tyr299=)
|
rs373183513
|
0.00001
|
NM_000218.3(KCNQ1):c.921+17C>T
|
rs370226856
|
0.00001
|
NM_000218.3(KCNQ1):c.939C>T (p.Ile313=)
|
rs199472747
|
0.00001
|
NM_000218.3(KCNQ1):c.981C>T (p.Thr327=)
|
rs1848536339
|
0.00001
|
NM_000218.3(KCNQ1):c.999T>G (p.Ser333=)
|
rs769230282
|
0.00001
|
NM_000219.6(KCNE1):c.237C>T (p.Asn79=)
|
rs746345034
|
0.00001
|
NM_000219.6(KCNE1):c.246C>T (p.Ile82=)
|
rs555086287
|
0.00001
|
NM_000219.6(KCNE1):c.54G>A (p.Gln18=)
|
rs149875299
|
0.00001
|
NM_000219.6(KCNE1):c.78C>T (p.Asn26=)
|
rs201604169
|
0.00001
|
NM_000238.4(KCNH2):c.1035C>T (p.Gly345=)
|
rs576125279
|
0.00001
|
NM_000238.4(KCNH2):c.1107T>C (p.Asn369=)
|
rs372231104
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1810C>T
|
rs972201049
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1854G>A
|
rs995080056
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1868G>C
|
rs990053814
|
0.00001
|
NM_000238.4(KCNH2):c.1128+1870G>A
|
rs1219643674
|
0.00001
|
NM_000238.4(KCNH2):c.1143C>T (p.Gly381=)
|
rs1452623581
|
0.00001
|
NM_000238.4(KCNH2):c.1146C>T (p.Ala382=)
|
rs202147325
|
0.00001
|
NM_000238.4(KCNH2):c.1224C>T (p.Ala408=)
|
rs372318358
|
0.00001
|
NM_000238.4(KCNH2):c.1263G>A (p.Thr421=)
|
rs368109121
|
0.00001
|
NM_000238.4(KCNH2):c.1266T>C (p.Ala422=)
|
rs375112881
|
0.00001
|
NM_000238.4(KCNH2):c.1329C>T (p.Thr443=)
|
rs754215143
|
0.00001
|
NM_000238.4(KCNH2):c.132C>T (p.Cys44=)
|
rs199472838
|
0.00001
|
NM_000238.4(KCNH2):c.1404C>T (p.Leu468=)
|
rs1448964607
|
0.00001
|
NM_000238.4(KCNH2):c.1407C>A (p.Ile469=)
|
rs759310358
|
0.00001
|
NM_000238.4(KCNH2):c.1470C>T (p.Ala490=)
|
rs1228965902
|
0.00001
|
NM_000238.4(KCNH2):c.1476C>T (p.His492=)
|
rs1801213900
|
0.00001
|
NM_000238.4(KCNH2):c.1497C>T (p.Leu499=)
|
rs926503173
|
0.00001
|
NM_000238.4(KCNH2):c.1558-20G>A
|
rs769553994
|
0.00001
|
NM_000238.4(KCNH2):c.1558-8T>A
|
rs1032007159
|
0.00001
|
NM_000238.4(KCNH2):c.156C>T (p.Cys52=)
|
rs754921704
|
0.00001
|
NM_000238.4(KCNH2):c.1668C>T (p.Thr556=)
|
rs748266308
|
0.00001
|
NM_000238.4(KCNH2):c.1707C>T (p.Tyr569=)
|
rs777831008
|
0.00001
|
NM_000238.4(KCNH2):c.1713C>T (p.Ile571=)
|
rs768652751
|
0.00001
|
NM_000238.4(KCNH2):c.1725G>A (p.Glu575=)
|
rs764865502
|
0.00001
|
NM_000238.4(KCNH2):c.1731A>T (p.Pro577=)
|
rs1438092503
|
0.00001
|
NM_000238.4(KCNH2):c.1770C>T (p.Gly590=)
|
rs369187892
|
0.00001
|
NM_000238.4(KCNH2):c.177G>A (p.Val59=)
|
rs753837732
|
0.00001
|
NM_000238.4(KCNH2):c.1815C>G (p.Pro605=)
|
rs1184158072
|
0.00001
|
NM_000238.4(KCNH2):c.1842G>A (p.Ala614=)
|
rs746863761
|
0.00001
|
NM_000238.4(KCNH2):c.1845C>G (p.Leu615=)
|
rs946076506
|
0.00001
|
NM_000238.4(KCNH2):c.186A>T (p.Arg62=)
|
rs1313067678
|
0.00001
|
NM_000238.4(KCNH2):c.1929C>T (p.Cys643=)
|
rs755698372
|
0.00001
|
NM_000238.4(KCNH2):c.1946-16G>A
|
rs376848355
|
0.00001
|
NM_000238.4(KCNH2):c.1946-17C>T
|
rs763430080
|
0.00001
|
NM_000238.4(KCNH2):c.1946-4C>G
|
rs1169211344
|
0.00001
|
NM_000238.4(KCNH2):c.1946-7C>T
|
rs1415460379
|
0.00001
|
NM_000238.4(KCNH2):c.1946-8G>A
|
rs1384850938
|
0.00001
|
NM_000238.4(KCNH2):c.1968C>T (p.Phe656=)
|
rs1238904019
|
0.00001
|
NM_000238.4(KCNH2):c.1980G>A (p.Ser660=)
|
rs774258761
|
0.00001
|
NM_000238.4(KCNH2):c.2091C>T (p.Leu697=)
|
rs968886132
|
0.00001
|
NM_000238.4(KCNH2):c.2109C>T (p.His703=)
|
rs202214833
|
0.00001
|
NM_000238.4(KCNH2):c.2121C>T (p.Tyr707=)
|
rs1307528282
|
0.00001
|
NM_000238.4(KCNH2):c.2145+17G>A
|
rs201021019
|
0.00001
|
NM_000238.4(KCNH2):c.2146-18C>T
|
rs770433324
|
0.00001
|
NM_000238.4(KCNH2):c.2166G>A (p.Glu722=)
|
rs1201327312
|
0.00001
|
NM_000238.4(KCNH2):c.2208G>A (p.Leu736=)
|
rs1302068958
|
0.00001
|
NM_000238.4(KCNH2):c.222G>A (p.Thr74=)
|
rs1243986727
|
0.00001
|
NM_000238.4(KCNH2):c.2265C>T (p.Ala755=)
|
rs144308070
|
0.00001
|
NM_000238.4(KCNH2):c.2292G>A (p.Pro764=)
|
rs766291953
|
0.00001
|
NM_000238.4(KCNH2):c.2316T>C (p.Ala772=)
|
rs1013660810
|
0.00001
|
NM_000238.4(KCNH2):c.2325G>C (p.Leu775=)
|
rs772751748
|
0.00001
|
NM_000238.4(KCNH2):c.2379C>T (p.Asp793=)
|
rs147507005
|
0.00001
|
NM_000238.4(KCNH2):c.237C>T (p.Ala79=)
|
rs1060503994
|
0.00001
|
NM_000238.4(KCNH2):c.2382C>T (p.Val794=)
|
rs777801910
|
0.00001
|
NM_000238.4(KCNH2):c.2385C>T (p.Val795=)
|
rs1161547614
|
0.00001
|
NM_000238.4(KCNH2):c.2409C>T (p.Asp803=)
|
rs776830887
|
0.00001
|
NM_000238.4(KCNH2):c.2445T>C (p.Pro815=)
|
rs375147598
|
0.00001
|
NM_000238.4(KCNH2):c.2547C>T (p.Ser849=)
|
rs543184784
|
0.00001
|
NM_000238.4(KCNH2):c.2593-16C>A
|
rs750751517
|
0.00001
|
NM_000238.4(KCNH2):c.2604C>T (p.Ile868=)
|
rs764083249
|
0.00001
|
NM_000238.4(KCNH2):c.2673C>T (p.Phe891=)
|
rs776954605
|
0.00001
|
NM_000238.4(KCNH2):c.2685G>T (p.Thr895=)
|
rs376008424
|
0.00001
|
NM_000238.4(KCNH2):c.2692+10G>A
|
rs1309224856
|
0.00001
|
NM_000238.4(KCNH2):c.2692+14G>A
|
rs774170513
|
0.00001
|
NM_000238.4(KCNH2):c.2693-5C>T
|
rs1060503992
|
0.00001
|
NM_000238.4(KCNH2):c.276C>T (p.Arg92=)
|
rs753629014
|
0.00001
|
NM_000238.4(KCNH2):c.2778G>A (p.Pro926=)
|
rs898987242
|
0.00001
|
NM_000238.4(KCNH2):c.27G>T (p.Ala9=)
|
rs863224336
|
0.00001
|
NM_000238.4(KCNH2):c.2823T>C (p.Ser941=)
|
rs1449358173
|
0.00001
|
NM_000238.4(KCNH2):c.2965+11C>T
|
rs770052290
|
0.00001
|
NM_000238.4(KCNH2):c.2965+12G>A
|
rs755987120
|
0.00001
|
NM_000238.4(KCNH2):c.2965+19_2965+20insA
|
rs1428146449
|
0.00001
|
NM_000238.4(KCNH2):c.3021C>T (p.Arg1007=)
|
rs781317328
|
0.00001
|
NM_000238.4(KCNH2):c.307+14G>A
|
rs763393992
|
0.00001
|
NM_000238.4(KCNH2):c.3081C>T (p.Leu1027=)
|
rs1438907234
|
0.00001
|
NM_000238.4(KCNH2):c.3276C>T (p.Ser1092=)
|
rs776100082
|
0.00001
|
NM_000238.4(KCNH2):c.3288C>T (p.Pro1096=)
|
rs748606749
|
0.00001
|
NM_000238.4(KCNH2):c.3331-20A>G
|
rs1471394428
|
0.00001
|
NM_000238.4(KCNH2):c.3399A>G (p.Thr1133=)
|
rs746102465
|
0.00001
|
NM_000238.4(KCNH2):c.3414A>T (p.Leu1138=)
|
rs1457023483
|
0.00001
|
NM_000238.4(KCNH2):c.3471G>A (p.Pro1157=)
|
rs562609392
|
0.00001
|
NM_000238.4(KCNH2):c.3471G>C (p.Pro1157=)
|
rs562609392
|
0.00001
|
NM_000238.4(KCNH2):c.36C>T (p.Asn12=)
|
rs372029645
|
0.00001
|
NM_000238.4(KCNH2):c.387C>T (p.Phe129=)
|
rs764831888
|
0.00001
|
NM_000238.4(KCNH2):c.423G>A (p.Pro141=)
|
rs148483769
|
0.00001
|
NM_000238.4(KCNH2):c.453C>G (p.Pro151=)
|
rs1408538509
|
0.00001
|
NM_000238.4(KCNH2):c.473-15T>G
|
rs1461571667
|
0.00001
|
NM_000238.4(KCNH2):c.473-5C>T
|
rs1181633993
|
0.00001
|
NM_000238.4(KCNH2):c.473-6C>T
|
rs751673669
|
0.00001
|
NM_000238.4(KCNH2):c.477C>T (p.Arg159=)
|
rs1271822540
|
0.00001
|
NM_000238.4(KCNH2):c.486C>T (p.Thr162=)
|
rs1563171221
|
0.00001
|
NM_000238.4(KCNH2):c.517C>T (p.Leu173=)
|
rs1031238925
|
0.00001
|
NM_000238.4(KCNH2):c.549C>T (p.Gly183=)
|
rs1178361948
|
0.00001
|
NM_000238.4(KCNH2):c.564G>A (p.Ala188=)
|
rs1339115530
|
0.00001
|
NM_000238.4(KCNH2):c.579C>T (p.Ala193=)
|
rs778362419
|
0.00001
|
NM_000238.4(KCNH2):c.675C>T (p.Leu225=)
|
rs760401552
|
0.00001
|
NM_000238.4(KCNH2):c.699G>A (p.Ala233=)
|
rs1242612823
|
0.00001
|
NM_000238.4(KCNH2):c.735C>A (p.Pro245=)
|
rs1361757645
|
0.00001
|
NM_000238.4(KCNH2):c.77-13C>T
|
rs771793839
|
0.00001
|
NM_000238.4(KCNH2):c.774C>G (p.Pro258=)
|
rs1554427740
|
0.00001
|
NM_000238.4(KCNH2):c.810G>A (p.Thr270=)
|
rs1801443154
|
0.00001
|
NM_000238.4(KCNH2):c.819A>T (p.Arg273=)
|
rs1398180335
|
0.00001
|
NM_000238.4(KCNH2):c.858C>T (p.Asp286=)
|
rs1250999461
|
0.00001
|
NM_000238.4(KCNH2):c.867G>A (p.Glu289=)
|
rs1247786599
|
0.00001
|
NM_000238.4(KCNH2):c.879C>T (p.Ala293=)
|
rs987421968
|
0.00001
|
NM_000238.4(KCNH2):c.916+16G>C
|
rs1329078306
|
0.00001
|
NM_000238.4(KCNH2):c.917-18C>T
|
rs1057520866
|
0.00001
|
NM_000238.4(KCNH2):c.930A>G (p.Pro310=)
|
rs745496986
|
0.00001
|
NM_000238.4(KCNH2):c.957C>T (p.Thr319=)
|
rs759130424
|
0.00001
|
NM_000238.4(KCNH2):c.966C>T (p.Ser322=)
|
rs200290864
|
0.00001
|
NM_000238.4(KCNH2):c.969C>T (p.Asp323=)
|
rs762912817
|
0.00001
|
NM_000238.4(KCNH2):c.972C>T (p.Leu324=)
|
rs146297032
|
0.00001
|
NM_000238.4(KCNH2):c.987C>G (p.Thr329=)
|
rs544461554
|
0.00001
|
NM_000719.7(CACNA1C):c.1023C>T (p.His341=)
|
rs375785714
|
0.00001
|
NM_000719.7(CACNA1C):c.1026C>T (p.Gly342=)
|
rs752842357
|
0.00001
|
NM_000719.7(CACNA1C):c.1032C>G (p.Thr344=)
|
rs760916463
|
0.00001
|
NM_000719.7(CACNA1C):c.108G>A (p.Ala36=)
|
rs781395450
|
0.00001
|
NM_000719.7(CACNA1C):c.1098G>A (p.Thr366=)
|
rs372622798
|
0.00001
|
NM_000719.7(CACNA1C):c.1101C>T (p.Asp367=)
|
rs746525111
|
0.00001
|
NM_000719.7(CACNA1C):c.1107G>A (p.Leu369=)
|
rs1021674676
|
0.00001
|
NM_000719.7(CACNA1C):c.1114-294A>G
|
rs368509650
|
0.00001
|
NM_000719.7(CACNA1C):c.1114-417C>T
|
rs746270394
|
0.00001
|
NM_000719.7(CACNA1C):c.114G>A (p.Leu38=)
|
rs1261325615
|
0.00001
|
NM_000719.7(CACNA1C):c.1215C>T (p.Ser405=)
|
rs780409021
|
0.00001
|
NM_000719.7(CACNA1C):c.1217+10A>C
|
rs751874167
|
0.00001
|
NM_000719.7(CACNA1C):c.1218-20C>T
|
rs1463763114
|
0.00001
|
NM_000719.7(CACNA1C):c.1218-8C>G
|
rs1306278750
|
0.00001
|
NM_000719.7(CACNA1C):c.1227C>T (p.Ser409=)
|
rs753412341
|
0.00001
|
NM_000719.7(CACNA1C):c.1242G>A (p.Lys414=)
|
rs764828828
|
0.00001
|
NM_000719.7(CACNA1C):c.1251C>T (p.Ala417=)
|
rs751902029
|
0.00001
|
NM_000719.7(CACNA1C):c.132C>T (p.Pro44=)
|
rs770183452
|
0.00001
|
NM_000719.7(CACNA1C):c.1356G>A (p.Glu452=)
|
rs1257737700
|
0.00001
|
NM_000719.7(CACNA1C):c.1360G>A (p.Glu454Lys)
|
rs775414849
|
0.00001
|
NM_000719.7(CACNA1C):c.1383C>T (p.Pro461=)
|
rs2099788030
|
0.00001
|
NM_000719.7(CACNA1C):c.138G>A (p.Pro46=)
|
rs774165120
|
0.00001
|
NM_000719.7(CACNA1C):c.1390+13C>G
|
rs1445102448
|
0.00001
|
NM_000719.7(CACNA1C):c.1390+19C>T
|
rs1408914166
|
0.00001
|
NM_000719.7(CACNA1C):c.1413C>T (p.Thr471=)
|
rs748856976
|
0.00001
|
NM_000719.7(CACNA1C):c.1420G>A (p.Val474Ile)
|
rs765581751
|
0.00001
|
NM_000719.7(CACNA1C):c.1428C>T (p.Thr476=)
|
rs750843602
|
0.00001
|
NM_000719.7(CACNA1C):c.1452C>T (p.Ile484=)
|
rs1432858631
|
0.00001
|
NM_000719.7(CACNA1C):c.1481+13G>A
|
rs375265901
|
0.00001
|
NM_000719.7(CACNA1C):c.1508+16G>A
|
rs1358258790
|
0.00001
|
NM_000719.7(CACNA1C):c.153G>A (p.Ser51=)
|
rs563315606
|
0.00001
|
NM_000719.7(CACNA1C):c.1578C>T (p.Phe526=)
|
rs752386939
|
0.00001
|
NM_000719.7(CACNA1C):c.1599G>A (p.Leu533=)
|
rs376618291
|
0.00001
|
NM_000719.7(CACNA1C):c.1614G>A (p.Thr538=)
|
rs747593586
|
0.00001
|
NM_000719.7(CACNA1C):c.162G>A (p.Ala54=)
|
rs760297846
|
0.00001
|
NM_000719.7(CACNA1C):c.1669+9C>T
|
rs1275252257
|
0.00001
|
NM_000719.7(CACNA1C):c.1670-14C>T
|
rs1184132854
|
0.00001
|
NM_000719.7(CACNA1C):c.1670-15T>C
|
rs1479929744
|
0.00001
|
NM_000719.7(CACNA1C):c.168C>T (p.Ile56=)
|
rs763760402
|
0.00001
|
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn)
|
rs773528195
|
0.00001
|
NM_000719.7(CACNA1C):c.1704G>A (p.Thr568=)
|
rs770625734
|
0.00001
|
NM_000719.7(CACNA1C):c.1716C>T (p.Leu572=)
|
rs745728974
|
0.00001
|
NM_000719.7(CACNA1C):c.1749C>T (p.Tyr583=)
|
rs375155518
|
0.00001
|
NM_000719.7(CACNA1C):c.1752C>T (p.Phe584=)
|
rs886043677
|
0.00001
|
NM_000719.7(CACNA1C):c.1800C>T (p.Ile600=)
|
rs1057523219
|
0.00001
|
NM_000719.7(CACNA1C):c.1806G>A (p.Glu602=)
|
rs775181288
|
0.00001
|
NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile)
|
rs768270021
|
0.00001
|
NM_000719.7(CACNA1C):c.1893G>A (p.Thr631=)
|
rs1252210096
|
0.00001
|
NM_000719.7(CACNA1C):c.1905C>T (p.Asn635=)
|
rs768640848
|
0.00001
|
NM_000719.7(CACNA1C):c.1989C>T (p.Ile663=)
|
rs1453566638
|
0.00001
|
NM_000719.7(CACNA1C):c.2073C>T (p.Asn691=)
|
rs794727117
|
0.00001
|
NM_000719.7(CACNA1C):c.2103+20G>A
|
rs543434844
|
0.00001
|
NM_000719.7(CACNA1C):c.2103+8C>T
|
rs574529871
|
0.00001
|
NM_000719.7(CACNA1C):c.2112C>T (p.Thr704=)
|
rs766729384
|
0.00001
|
NM_000719.7(CACNA1C):c.2208C>T (p.Leu736=)
|
rs756015892
|
0.00001
|
NM_000719.7(CACNA1C):c.2220A>G (p.Gly740=)
|
rs940854113
|
0.00001
|
NM_000719.7(CACNA1C):c.2224+18C>A
|
rs1179653920
|
0.00001
|
NM_000719.7(CACNA1C):c.225A>C (p.Thr75=)
|
rs756361032
|
0.00001
|
NM_000719.7(CACNA1C):c.2277T>C (p.Ala759=)
|
rs756036003
|
0.00001
|
NM_000719.7(CACNA1C):c.2368T>C (p.Leu790=)
|
rs1184185290
|
0.00001
|
NM_000719.7(CACNA1C):c.236C>T (p.Thr79Met)
|
rs749031775
|
0.00001
|
NM_000719.7(CACNA1C):c.2387T>G (p.Val796Gly)
|
rs1277492029
|
0.00001
|
NM_000719.7(CACNA1C):c.2403G>A (p.Glu801=)
|
rs1393294693
|
0.00001
|
NM_000719.7(CACNA1C):c.2427C>T (p.Ile809=)
|
rs886038904
|
0.00001
|
NM_000719.7(CACNA1C):c.2430G>A (p.Thr810=)
|
rs775571017
|
0.00001
|
NM_000719.7(CACNA1C):c.2451C>T (p.Pro817=)
|
rs1257316721
|
0.00001
|
NM_000719.7(CACNA1C):c.2457C>G (p.Thr819=)
|
rs1458943435
|
0.00001
|
NM_000719.7(CACNA1C):c.2493T>C (p.Asn831=)
|
rs571245393
|
0.00001
|
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys)
|
rs774002530
|
0.00001
|
NM_000719.7(CACNA1C):c.2531-7C>T
|
rs1382973630
|
0.00001
|
NM_000719.7(CACNA1C):c.2547G>A (p.Glu849=)
|
rs759093479
|
0.00001
|
NM_000719.7(CACNA1C):c.2565C>T (p.Val855=)
|
rs760390307
|
0.00001
|
NM_000719.7(CACNA1C):c.2610G>A (p.Lys870=)
|
rs1030242284
|
0.00001
|
NM_000719.7(CACNA1C):c.2619C>T (p.Pro873=)
|
rs374481837
|
0.00001
|
NM_000719.7(CACNA1C):c.2664-11C>G
|
rs767514995
|
0.00001
|
NM_000719.7(CACNA1C):c.2670C>T (p.Arg890=)
|
rs778866775
|
0.00001
|
NM_000719.7(CACNA1C):c.2700G>A (p.Thr900=)
|
rs200717140
|
0.00001
|
NM_000719.7(CACNA1C):c.2757T>C (p.Ala919=)
|
rs1474150842
|
0.00001
|
NM_000719.7(CACNA1C):c.2760G>A (p.Glu920=)
|
rs1156871556
|
0.00001
|
NM_000719.7(CACNA1C):c.2793+10G>A
|
rs587780877
|
0.00001
|
NM_000719.7(CACNA1C):c.2853+8C>A
|
rs769463930
|
0.00001
|
NM_000719.7(CACNA1C):c.2854-10C>G
|
rs767334396
|
0.00001
|
NM_000719.7(CACNA1C):c.3048+19T>C
|
rs368017840
|
0.00001
|
NM_000719.7(CACNA1C):c.3049-18C>T
|
rs764862438
|
0.00001
|
NM_000719.7(CACNA1C):c.3060G>A (p.Gln1020=)
|
rs115017320
|
0.00001
|
NM_000719.7(CACNA1C):c.3087C>T (p.Ile1029=)
|
rs151211423
|
0.00001
|
NM_000719.7(CACNA1C):c.3093C>T (p.Asn1031=)
|
rs775739185
|
0.00001
|
NM_000719.7(CACNA1C):c.3096C>T (p.Ile1032=)
|
rs917266570
|
0.00001
|
NM_000719.7(CACNA1C):c.3156+20G>C
|
rs751966602
|
0.00001
|
NM_000719.7(CACNA1C):c.3157-16G>C
|
rs770629047
|
0.00001
|
NM_000719.7(CACNA1C):c.3168C>T (p.Tyr1056=)
|
rs1344307413
|
0.00001
|
NM_000719.7(CACNA1C):c.3210-15C>T
|
rs1160881733
|
0.00001
|
NM_000719.7(CACNA1C):c.3210-5C>A
|
rs373331407
|
0.00001
|
NM_000719.7(CACNA1C):c.3220A>G (p.Ile1074Val)
|
rs786205779
|
0.00001
|
NM_000719.7(CACNA1C):c.3225G>A (p.Thr1075=)
|
rs1229921966
|
0.00001
|
NM_000719.7(CACNA1C):c.3246C>T (p.Asp1082=)
|
rs370662635
|
0.00001
|
NM_000719.7(CACNA1C):c.3258C>T (p.Ile1086=)
|
rs757290350
|
0.00001
|
NM_000719.7(CACNA1C):c.3294T>C (p.Phe1098=)
|
rs745340145
|
0.00001
|
NM_000719.7(CACNA1C):c.3303T>C (p.Val1101=)
|
rs760313875
|
0.00001
|
NM_000719.7(CACNA1C):c.3342C>T (p.Phe1114=)
|
rs1238999546
|
0.00001
|
NM_000719.7(CACNA1C):c.3356+10C>T
|
rs2075722266
|
0.00001
|
NM_000719.7(CACNA1C):c.3357-9C>T
|
rs2076295735
|
0.00001
|
NM_000719.7(CACNA1C):c.3363G>A (p.Leu1121=)
|
rs778991232
|
0.00001
|
NM_000719.7(CACNA1C):c.3372C>T (p.Ser1124=)
|
rs757869704
|
0.00001
|
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=)
|
rs398123521
|
0.00001
|
NM_000719.7(CACNA1C):c.3391G>A (p.Asp1131Asn)
|
rs776318939
|
0.00001
|
NM_000719.7(CACNA1C):c.3459C>T (p.Ile1153=)
|
rs374850501
|
0.00001
|
NM_000719.7(CACNA1C):c.3489C>G (p.Gly1163=)
|
rs1057522786
|
0.00001
|
NM_000719.7(CACNA1C):c.3498C>T (p.Ile1166=)
|
rs201147949
|
0.00001
|
NM_000719.7(CACNA1C):c.3558+10dup
|
rs1555884916
|
0.00001
|
NM_000719.7(CACNA1C):c.356G>A (p.Ser119Asn)
|
rs1220725707
|
0.00001
|
NM_000719.7(CACNA1C):c.3570G>T (p.Val1190=)
|
rs1182990232
|
0.00001
|
NM_000719.7(CACNA1C):c.3576C>T (p.Tyr1192=)
|
rs376481211
|
0.00001
|
NM_000719.7(CACNA1C):c.3590G>A (p.Arg1197Gln)
|
rs1474032393
|
0.00001
|
NM_000719.7(CACNA1C):c.363C>T (p.Val121=)
|
rs886042281
|
0.00001
|
NM_000719.7(CACNA1C):c.3663C>T (p.Phe1221=)
|
rs369646222
|
0.00001
|
NM_000719.7(CACNA1C):c.366A>G (p.Glu122=)
|
rs1350789310
|
0.00001
|
NM_000719.7(CACNA1C):c.3681C>T (p.Val1227=)
|
rs886049204
|
0.00001
|
NM_000719.7(CACNA1C):c.3723C>T (p.Tyr1241=)
|
rs377686760
|
0.00001
|
NM_000719.7(CACNA1C):c.3762C>T (p.Leu1254=)
|
rs781762504
|
0.00001
|
NM_000719.7(CACNA1C):c.3829-16G>T
|
rs374295746
|
0.00001
|
NM_000719.7(CACNA1C):c.3829-18C>T
|
rs541705112
|
0.00001
|
NM_000719.7(CACNA1C):c.3829-428C>T
|
rs1470846177
|
0.00001
|
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr)
|
rs749588699
|
0.00001
|
NM_000719.7(CACNA1C):c.3978C>T (p.Thr1326=)
|
rs1022346720
|
0.00001
|
NM_000719.7(CACNA1C):c.4017G>A (p.Leu1339=)
|
rs772214847
|
0.00001
|
NM_000719.7(CACNA1C):c.4074+7G>A
|
rs765822946
|
0.00001
|
NM_000719.7(CACNA1C):c.4078C>T (p.Leu1360=)
|
rs752125137
|
0.00001
|
NM_000719.7(CACNA1C):c.4131C>T (p.Ile1377=)
|
rs770774627
|
0.00001
|
NM_000719.7(CACNA1C):c.4141-4C>T
|
rs745757052
|
0.00001
|
NM_000719.7(CACNA1C):c.4215C>T (p.Ala1405=)
|
rs768068080
|
0.00001
|
NM_000719.7(CACNA1C):c.4224C>T (p.Leu1408=)
|
rs1476420888
|
0.00001
|
NM_000719.7(CACNA1C):c.4232+16C>A
|
rs757493608
|
0.00001
|
NM_000719.7(CACNA1C):c.4232+18T>C
|
rs779157902
|
0.00001
|
NM_000719.7(CACNA1C):c.42C>T (p.Asn14=)
|
rs778173570
|
0.00001
|
NM_000719.7(CACNA1C):c.4305C>T (p.Ser1435=)
|
rs756717724
|
0.00001
|
NM_000719.7(CACNA1C):c.4323G>A (p.Thr1441=)
|
rs753892795
|
0.00001
|
NM_000719.7(CACNA1C):c.4380C>T (p.Tyr1460=)
|
rs747654175
|
0.00001
|
NM_000719.7(CACNA1C):c.4398+18T>G
|
rs370864993
|
0.00001
|
NM_000719.7(CACNA1C):c.4399-16G>T
|
rs1327545993
|
0.00001
|
NM_000719.7(CACNA1C):c.4399-20C>T
|
rs763105882
|
0.00001
|
NM_000719.7(CACNA1C):c.4440C>T (p.Asp1480=)
|
rs1355078427
|
0.00001
|
NM_000719.7(CACNA1C):c.4527-6T>A
|
rs1239248123
|
0.00001
|
NM_000719.7(CACNA1C):c.4656C>T (p.Ser1552=)
|
rs372600490
|
0.00001
|
NM_000719.7(CACNA1C):c.4704G>A (p.Thr1568=)
|
rs377050884
|
0.00001
|
NM_000719.7(CACNA1C):c.4726+8C>T
|
rs748503663
|
0.00001
|
NM_000719.7(CACNA1C):c.4727-8C>T
|
rs1569189265
|
0.00001
|
NM_000719.7(CACNA1C):c.478-12T>C
|
rs747409082
|
0.00001
|
NM_000719.7(CACNA1C):c.4782G>A (p.Lys1594=)
|
rs1336965329
|
0.00001
|
NM_000719.7(CACNA1C):c.482G>A (p.Arg161Gln)
|
rs777210376
|
0.00001
|
NM_000719.7(CACNA1C):c.4857C>T (p.Tyr1619=)
|
rs758486779
|
0.00001
|
NM_000719.7(CACNA1C):c.4881C>T (p.Tyr1627=)
|
rs1331189773
|
0.00001
|
NM_000719.7(CACNA1C):c.4890G>A (p.Lys1630=)
|
rs781335488
|
0.00001
|
NM_000719.7(CACNA1C):c.4947G>A (p.Leu1649=)
|
rs765704747
|
0.00001
|
NM_000719.7(CACNA1C):c.4956+8C>T
|
rs1318299880
|
0.00001
|
NM_000719.7(CACNA1C):c.4971A>G (p.Thr1657=)
|
rs755018705
|
0.00001
|
NM_000719.7(CACNA1C):c.4983C>T (p.Ile1661=)
|
rs756309007
|
0.00001
|
NM_000719.7(CACNA1C):c.4986G>T (p.Gly1662=)
|
rs1181211424
|
0.00001
|
NM_000719.7(CACNA1C):c.50-18T>C
|
rs750923289
|
0.00001
|
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr)
|
rs773930851
|
0.00001
|
NM_000719.7(CACNA1C):c.5109C>T (p.Phe1703=)
|
rs767569416
|
0.00001
|
NM_000719.7(CACNA1C):c.5137G>A (p.Asp1713Asn)
|
rs747708938
|
0.00001
|
NM_000719.7(CACNA1C):c.5157C>G (p.Pro1719=)
|
rs534589273
|
0.00001
|
NM_000719.7(CACNA1C):c.5162C>G (p.Thr1721Ser)
|
rs554737427
|
0.00001
|
NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val)
|
rs751493277
|
0.00001
|
NM_000719.7(CACNA1C):c.5184G>A (p.Leu1728=)
|
rs942346157
|
0.00001
|
NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=)
|
rs769124319
|
0.00001
|
NM_000719.7(CACNA1C):c.5220T>G (p.Thr1740=)
|
rs1319539049
|
0.00001
|
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu)
|
rs375571032
|
0.00001
|
NM_000719.7(CACNA1C):c.5250C>T (p.Asp1750=)
|
rs1231791018
|
0.00001
|
NM_000719.7(CACNA1C):c.5265G>A (p.Pro1755=)
|
rs763694744
|
0.00001
|
NM_000719.7(CACNA1C):c.5319C>T (p.Thr1773=)
|
rs897857982
|
0.00001
|
NM_000719.7(CACNA1C):c.5330G>A (p.Arg1777His)
|
rs189719120
|
0.00001
|
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys)
|
rs371760034
|
0.00001
|
NM_000719.7(CACNA1C):c.5339G>A (p.Arg1780His)
|
rs756829999
|
0.00001
|
NM_000719.7(CACNA1C):c.5344G>A (p.Ala1782Thr)
|
rs750078053
|
0.00001
|
NM_000719.7(CACNA1C):c.5352C>T (p.Tyr1784=)
|
rs753051498
|
0.00001
|
NM_000719.7(CACNA1C):c.5415G>A (p.Gln1805=)
|
rs778285875
|
0.00001
|
NM_000719.7(CACNA1C):c.5441A>G (p.Asn1814Ser)
|
rs780210232
|
0.00001
|
NM_000719.7(CACNA1C):c.5442C>T (p.Asn1814=)
|
rs1051978823
|
0.00001
|
NM_000719.7(CACNA1C):c.5535G>A (p.Thr1845=)
|
rs746271719
|
0.00001
|
NM_000719.7(CACNA1C):c.5568A>G (p.Thr1856=)
|
rs113417515
|
0.00001
|
NM_000719.7(CACNA1C):c.5610G>A (p.Thr1870=)
|
rs754665233
|
0.00001
|
NM_000719.7(CACNA1C):c.5637C>A (p.Ile1879=)
|
rs569227029
|
0.00001
|
NM_000719.7(CACNA1C):c.5658T>C (p.Gly1886=)
|
rs769766334
|
0.00001
|
NM_000719.7(CACNA1C):c.5681-20C>T
|
rs867626259
|
0.00001
|
NM_000719.7(CACNA1C):c.5733G>A (p.Gly1911=)
|
rs769215743
|
0.00001
|
NM_000719.7(CACNA1C):c.5763C>T (p.Pro1921=)
|
rs1470737165
|
0.00001
|
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=)
|
rs757373786
|
0.00001
|
NM_000719.7(CACNA1C):c.5785-4G>A
|
rs763102512
|
0.00001
|
NM_000719.7(CACNA1C):c.5788T>C (p.Leu1930=)
|
rs780936636
|
0.00001
|
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=)
|
rs561224137
|
0.00001
|
NM_000719.7(CACNA1C):c.5841A>G (p.Ser1947=)
|
rs1056550014
|
0.00001
|
NM_000719.7(CACNA1C):c.5849G>A (p.Arg1950Lys)
|
rs773787202
|
0.00001
|
NM_000719.7(CACNA1C):c.5883C>T (p.Ser1961=)
|
rs1291974001
|
0.00001
|
NM_000719.7(CACNA1C):c.5922T>C (p.Leu1974=)
|
rs775794989
|
0.00001
|
NM_000719.7(CACNA1C):c.5928G>A (p.Gly1976=)
|
rs763979736
|
0.00001
|
NM_000719.7(CACNA1C):c.5955C>T (p.Ser1985=)
|
rs2097649401
|
0.00001
|
NM_000719.7(CACNA1C):c.5976C>T (p.Cys1992=)
|
rs369690952
|
0.00001
|
NM_000719.7(CACNA1C):c.5995A>G (p.Thr1999Ala)
|
rs1309581039
|
0.00001
|
NM_000719.7(CACNA1C):c.5997C>G (p.Thr1999=)
|
rs1291561787
|
0.00001
|
NM_000719.7(CACNA1C):c.6000C>T (p.Pro2000=)
|
rs772160508
|
0.00001
|
NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg)
|
rs886038918
|
0.00001
|
NM_000719.7(CACNA1C):c.6019G>A (p.Ala2007Thr)
|
rs750411964
|
0.00001
|
NM_000719.7(CACNA1C):c.6021C>T (p.Ala2007=)
|
rs762515457
|
0.00001
|
NM_000719.7(CACNA1C):c.6026G>A (p.Arg2009Gln)
|
rs535291848
|
0.00001
|
NM_000719.7(CACNA1C):c.6039C>T (p.Pro2013=)
|
rs780157730
|
0.00001
|
NM_000719.7(CACNA1C):c.6063G>A (p.Gln2021=)
|
rs751077510
|
0.00001
|
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=)
|
rs750835120
|
0.00001
|
NM_000719.7(CACNA1C):c.6096T>C (p.Ser2032=)
|
rs530955089
|
0.00001
|
NM_000719.7(CACNA1C):c.609G>A (p.Val203=)
|
rs1417477759
|
0.00001
|
NM_000719.7(CACNA1C):c.615G>T (p.Val205=)
|
rs747320984
|
0.00001
|
NM_000719.7(CACNA1C):c.617+11C>T
|
rs550267364
|
0.00001
|
NM_000719.7(CACNA1C):c.618-4C>G
|
rs1483190714
|
0.00001
|
NM_000719.7(CACNA1C):c.6243C>T (p.Ile2081=)
|
rs763666740
|
0.00001
|
NM_000719.7(CACNA1C):c.6254G>A (p.Gly2085Asp)
|
rs776275799
|
0.00001
|
NM_000719.7(CACNA1C):c.6279C>T (p.Ala2093=)
|
rs768208850
|
0.00001
|
NM_000719.7(CACNA1C):c.6354C>T (p.Arg2118=)
|
rs774577016
|
0.00001
|
NM_000719.7(CACNA1C):c.6362G>A (p.Gly2121Asp)
|
rs759953087
|
0.00001
|
NM_000719.7(CACNA1C):c.6390C>T (p.Asp2130=)
|
rs757406553
|
0.00001
|
NM_000719.7(CACNA1C):c.672C>T (p.Leu224=)
|
rs868024886
|
0.00001
|
NM_000719.7(CACNA1C):c.714C>G (p.Ala238=)
|
rs561293967
|
0.00001
|
NM_000719.7(CACNA1C):c.720C>T (p.Arg240=)
|
rs527755968
|
0.00001
|
NM_000719.7(CACNA1C):c.733C>T (p.Leu245=)
|
rs2099444468
|
0.00001
|
NM_000719.7(CACNA1C):c.75C>T (p.Pro25=)
|
rs773869181
|
0.00001
|
NM_000719.7(CACNA1C):c.762C>T (p.Leu254=)
|
rs1196925256
|
0.00001
|
NM_000719.7(CACNA1C):c.792C>A (p.Ala264=)
|
rs750459136
|
0.00001
|
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr)
|
rs373687005
|
0.00001
|
NM_000719.7(CACNA1C):c.897C>T (p.Tyr299=)
|
rs1427818356
|
0.00001
|
NM_000719.7(CACNA1C):c.917-20T>C
|
rs1228502476
|
0.00001
|
NM_000719.7(CACNA1C):c.969G>A (p.Gly323=)
|
rs1321784808
|
0.00001
|
NM_000719.7(CACNA1C):c.98A>G (p.Asn33Ser)
|
rs535608443
|
0.00001
|
NM_000719.7(CACNA1C):c.999G>A (p.Lys333=)
|
rs770382212
|
0.00001
|
NM_000890.5(KCNJ5):c.1137C>T (p.Tyr379=)
|
rs781130958
|
0.00001
|
NM_000890.5(KCNJ5):c.1155G>T (p.Leu385=)
|
rs1202155314
|
0.00001
|
NM_000890.5(KCNJ5):c.120G>A (p.Thr40=)
|
rs370114584
|
0.00001
|
NM_000890.5(KCNJ5):c.183C>T (p.Asn61=)
|
rs760931417
|
0.00001
|
NM_000890.5(KCNJ5):c.198C>T (p.Asn66=)
|
rs371347693
|
0.00001
|
NM_000890.5(KCNJ5):c.408C>T (p.Phe136=)
|
rs780052854
|
0.00001
|
NM_000890.5(KCNJ5):c.414C>T (p.Ser138=)
|
rs149219318
|
0.00001
|
NM_000890.5(KCNJ5):c.618A>G (p.Ala206=)
|
rs758377412
|
0.00001
|
NM_000890.5(KCNJ5):c.732C>T (p.Thr244=)
|
rs545729688
|
0.00001
|
NM_000890.5(KCNJ5):c.906G>T (p.Val302=)
|
rs533482437
|
0.00001
|
NM_000890.5(KCNJ5):c.937+9C>T
|
rs781582486
|
0.00001
|
NM_000890.5(KCNJ5):c.938-4C>T
|
rs753186315
|
0.00001
|
NM_000890.5(KCNJ5):c.990C>A (p.Gly330=)
|
rs1370256653
|
0.00001
|
NM_000891.3(KCNJ2):c.1083A>G (p.Leu361=)
|
rs767166881
|
0.00001
|
NM_000891.3(KCNJ2):c.1104C>T (p.Leu368=)
|
rs753839703
|
0.00001
|
NM_000891.3(KCNJ2):c.1212T>C (p.Pro404=)
|
rs763917912
|
0.00001
|
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=)
|
rs555386610
|
0.00001
|
NM_000891.3(KCNJ2):c.138C>T (p.Arg46=)
|
rs997406384
|
0.00001
|
NM_000891.3(KCNJ2):c.219C>T (p.Phe73=)
|
rs1434901464
|
0.00001
|
NM_000891.3(KCNJ2):c.222C>T (p.Thr74=)
|
rs1053161336
|
0.00001
|
NM_000891.3(KCNJ2):c.24C>T (p.Arg8=)
|
rs550697411
|
0.00001
|
NM_000891.3(KCNJ2):c.261C>T (p.Ile87=)
|
rs1166497262
|
0.00001
|
NM_000891.3(KCNJ2):c.276C>T (p.Phe92=)
|
rs556248547
|
0.00001
|
NM_000891.3(KCNJ2):c.279C>T (p.Val93=)
|
rs767566718
|
0.00001
|
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)
|
rs376921497
|
0.00001
|
NM_000891.3(KCNJ2):c.387C>T (p.Phe129=)
|
rs1402832714
|
0.00001
|
NM_000891.3(KCNJ2):c.390G>A (p.Thr130=)
|
rs745672560
|
0.00001
|
NM_000891.3(KCNJ2):c.435T>C (p.Tyr145=)
|
rs773185250
|
0.00001
|
NM_000891.3(KCNJ2):c.453G>A (p.Thr151=)
|
rs751862699
|
0.00001
|
NM_000891.3(KCNJ2):c.465A>G (p.Pro155=)
|
rs759879267
|
0.00001
|
NM_000891.3(KCNJ2):c.498C>T (p.Ile166=)
|
rs142049682
|
0.00001
|
NM_000891.3(KCNJ2):c.579T>G (p.Leu193=)
|
rs773272852
|
0.00001
|
NM_000891.3(KCNJ2):c.675T>C (p.Ala225=)
|
rs201850260
|
0.00001
|
NM_000891.3(KCNJ2):c.678T>C (p.His226=)
|
rs559935671
|
0.00001
|
NM_000891.3(KCNJ2):c.687A>G (p.Ala229=)
|
rs1276042254
|
0.00001
|
NM_000891.3(KCNJ2):c.750C>A (p.Ile250=)
|
rs886039094
|
0.00001
|
NM_000891.3(KCNJ2):c.75A>C (p.Ala25=)
|
rs1217136489
|
0.00001
|
NM_000891.3(KCNJ2):c.81A>C (p.Ala27=)
|
rs2074384649
|
0.00001
|
NM_000891.3(KCNJ2):c.87C>T (p.Gly29=)
|
rs1027878057
|
0.00001
|
NM_000891.3(KCNJ2):c.924G>A (p.Thr308=)
|
rs1441547463
|
0.00001
|
NM_000891.3(KCNJ2):c.945T>C (p.Tyr315=)
|
rs2074390355
|
0.00001
|
NM_000891.3(KCNJ2):c.984T>C (p.Pro328=)
|
rs905657549
|
0.00001
|
NM_000891.3(KCNJ2):c.99G>A (p.Gly33=)
|
rs769513425
|
0.00001
|
NM_000891.3(KCNJ2):c.9T>C (p.Ser3=)
|
rs1598210962
|
0.00001
|
NM_001106.4(ACVR2B):c.1209A>G (p.Ala403=)
|
rs372522416
|
0.00001
|
NM_001106.4(ACVR2B):c.260+10G>C
|
rs200401350
|
0.00001
|
NM_001106.4(ACVR2B):c.99C>T (p.Asn33=)
|
rs759328980
|
0.00001
|
NM_001136271.3(NKX2-6):c.180C>T (p.Gly60=)
|
rs1356335573
|
0.00001
|
NM_001148.6(ANK2):c.10263C>T (p.Ala3421=)
|
rs745900850
|
0.00001
|
NM_001148.6(ANK2):c.102C>T (p.Ser34=)
|
rs866875104
|
0.00001
|
NM_001148.6(ANK2):c.10407C>T (p.Asp3469=)
|
rs1207598022
|
0.00001
|
NM_001148.6(ANK2):c.10555C>T (p.Leu3519=)
|
rs750329150
|
0.00001
|
NM_001148.6(ANK2):c.1062C>T (p.His354=)
|
rs748901491
|
0.00001
|
NM_001148.6(ANK2):c.10674T>C (p.His3558=)
|
rs761385520
|
0.00001
|
NM_001148.6(ANK2):c.10848G>A (p.Leu3616=)
|
rs1060504151
|
0.00001
|
NM_001148.6(ANK2):c.10899C>T (p.Leu3633=)
|
rs1460849721
|
0.00001
|
NM_001148.6(ANK2):c.11010C>T (p.Thr3670=)
|
rs794727664
|
0.00001
|
NM_001148.6(ANK2):c.11205C>T (p.Ser3735=)
|
rs895533888
|
0.00001
|
NM_001148.6(ANK2):c.11235C>T (p.His3745=)
|
rs1031911175
|
0.00001
|
NM_001148.6(ANK2):c.11454C>T (p.Ser3818=)
|
rs778361140
|
0.00001
|
NM_001148.6(ANK2):c.11496C>G (p.Pro3832=)
|
rs1367181224
|
0.00001
|
NM_001148.6(ANK2):c.11556C>T (p.Ala3852=)
|
rs751064768
|
0.00001
|
NM_001148.6(ANK2):c.11577T>C (p.Cys3859=)
|
rs1315574689
|
0.00001
|
NM_001148.6(ANK2):c.11583A>G (p.Arg3861=)
|
rs777408433
|
0.00001
|
NM_001148.6(ANK2):c.11682C>T (p.Thr3894=)
|
rs758235027
|
0.00001
|
NM_001148.6(ANK2):c.1176C>T (p.Asn392=)
|
rs777256180
|
0.00001
|
NM_001148.6(ANK2):c.11847C>T (p.Thr3949=)
|
rs771225003
|
0.00001
|
NM_001148.6(ANK2):c.1287+19T>C
|
rs754784099
|
0.00001
|
NM_001148.6(ANK2):c.1308T>C (p.His436=)
|
rs777946326
|
0.00001
|
NM_001148.6(ANK2):c.1344C>G (p.Leu448=)
|
rs1435867786
|
0.00001
|
NM_001148.6(ANK2):c.1387-20C>T
|
rs747367469
|
0.00001
|
NM_001148.6(ANK2):c.1387-6T>C
|
rs536304475
|
0.00001
|
NM_001148.6(ANK2):c.1509T>A (p.Ile503=)
|
rs775008205
|
0.00001
|
NM_001148.6(ANK2):c.1578C>G (p.Ala526=)
|
rs762958248
|
0.00001
|
NM_001148.6(ANK2):c.1602G>T (p.Leu534=)
|
rs755241369
|
0.00001
|
NM_001148.6(ANK2):c.162C>T (p.Gly54=)
|
rs749635039
|
0.00001
|
NM_001148.6(ANK2):c.1647A>G (p.Leu549=)
|
rs186150414
|
0.00001
|
NM_001148.6(ANK2):c.1783-19T>A
|
rs1013598144
|
0.00001
|
NM_001148.6(ANK2):c.1803T>C (p.His601=)
|
rs144016063
|
0.00001
|
NM_001148.6(ANK2):c.1818T>C (p.Tyr606=)
|
rs1416016915
|
0.00001
|
NM_001148.6(ANK2):c.186+18A>G
|
rs1057521531
|
0.00001
|
NM_001148.6(ANK2):c.187-10C>A
|
rs370724614
|
0.00001
|
NM_001148.6(ANK2):c.1882-8C>G
|
rs3025720
|
0.00001
|
NM_001148.6(ANK2):c.2067C>T (p.His689=)
|
rs772480764
|
0.00001
|
NM_001148.6(ANK2):c.2073A>G (p.Ser691=)
|
rs1369823612
|
0.00001
|
NM_001148.6(ANK2):c.2172T>C (p.His724=)
|
rs1216755738
|
0.00001
|
NM_001148.6(ANK2):c.2289G>A (p.Thr763=)
|
rs753131867
|
0.00001
|
NM_001148.6(ANK2):c.228C>T (p.His76=)
|
rs1300920995
|
0.00001
|
NM_001148.6(ANK2):c.2304C>T (p.Ala768=)
|
rs1386348948
|
0.00001
|
NM_001148.6(ANK2):c.2334C>T (p.Asn778=)
|
rs779535881
|
0.00001
|
NM_001148.6(ANK2):c.2364C>T (p.Asn788=)
|
rs769405364
|
0.00001
|
NM_001148.6(ANK2):c.2376+20C>T
|
rs767816261
|
0.00001
|
NM_001148.6(ANK2):c.2580A>G (p.Glu860=)
|
rs2079827735
|
0.00001
|
NM_001148.6(ANK2):c.2838C>G (p.Arg946=)
|
rs776367538
|
0.00001
|
NM_001148.6(ANK2):c.2841A>G (p.Leu947=)
|
rs1270964149
|
0.00001
|
NM_001148.6(ANK2):c.285+12G>A
|
rs752639381
|
0.00001
|
NM_001148.6(ANK2):c.286-10T>G
|
rs1424126524
|
0.00001
|
NM_001148.6(ANK2):c.3093C>T (p.Ile1031=)
|
rs767037865
|
0.00001
|
NM_001148.6(ANK2):c.3339T>C (p.Thr1113=)
|
rs1482914715
|
0.00001
|
NM_001148.6(ANK2):c.348T>C (p.Leu116=)
|
rs752015185
|
0.00001
|
NM_001148.6(ANK2):c.3591+19C>A
|
rs116394434
|
0.00001
|
NM_001148.6(ANK2):c.36T>C (p.Ser12=)
|
rs2066075615
|
0.00001
|
NM_001148.6(ANK2):c.3796+10A>T
|
rs754794031
|
0.00001
|
NM_001148.6(ANK2):c.3858T>C (p.Asn1286=)
|
rs1563885033
|
0.00001
|
NM_001148.6(ANK2):c.3894-15T>C
|
rs761835615
|
0.00001
|
NM_001148.6(ANK2):c.3969C>T (p.Cys1323=)
|
rs756674393
|
0.00001
|
NM_001148.6(ANK2):c.4123-13del
|
rs1371663354
|
0.00001
|
NM_001148.6(ANK2):c.4125G>A (p.Val1375=)
|
rs767793694
|
0.00001
|
NM_001148.6(ANK2):c.4239A>G (p.Leu1413=)
|
rs770858212
|
0.00001
|
NM_001148.6(ANK2):c.4248+6dup
|
rs1205810294
|
0.00001
|
NM_001148.6(ANK2):c.4248+9T>C
|
rs776783690
|
0.00001
|
NM_001148.6(ANK2):c.4275C>T (p.Cys1425=)
|
rs776983267
|
0.00001
|
NM_001148.6(ANK2):c.4284A>G (p.Leu1428=)
|
rs963639278
|
0.00001
|
NM_001148.6(ANK2):c.4372-8G>A
|
rs771323413
|
0.00001
|
NM_001148.6(ANK2):c.4470C>T (p.His1490=)
|
rs950761799
|
0.00001
|
NM_001148.6(ANK2):c.4554C>T (p.Thr1518=)
|
rs747525865
|
0.00001
|
NM_001148.6(ANK2):c.468G>A (p.Gln156=)
|
rs886059008
|
0.00001
|
NM_001148.6(ANK2):c.483+15C>T
|
rs2099316979
|
0.00001
|
NM_001148.6(ANK2):c.4845A>T (p.Pro1615=)
|
rs927533605
|
0.00001
|
NM_001148.6(ANK2):c.4995A>G (p.Lys1665=)
|
rs769675253
|
0.00001
|
NM_001148.6(ANK2):c.5148G>A (p.Glu1716=)
|
rs770887625
|
0.00001
|
NM_001148.6(ANK2):c.5376A>G (p.Lys1792=)
|
rs930905135
|
0.00001
|
NM_001148.6(ANK2):c.5463G>A (p.Gly1821=)
|
rs758361128
|
0.00001
|
NM_001148.6(ANK2):c.547T>C (p.Leu183=)
|
rs146891854
|
0.00001
|
NM_001148.6(ANK2):c.5508C>T (p.Ser1836=)
|
rs766217545
|
0.00001
|
NM_001148.6(ANK2):c.5616G>A (p.Ser1872=)
|
rs761557717
|
0.00001
|
NM_001148.6(ANK2):c.5787G>A (p.Ser1929=)
|
rs145614759
|
0.00001
|
NM_001148.6(ANK2):c.579G>A (p.Leu193=)
|
rs1382509585
|
0.00001
|
NM_001148.6(ANK2):c.5833A>T (p.Thr1945Ser)
|
rs527552716
|
0.00001
|
NM_001148.6(ANK2):c.5847A>G (p.Gln1949=)
|
rs751984665
|
0.00001
|
NM_001148.6(ANK2):c.5913G>A (p.Lys1971=)
|
rs776705641
|
0.00001
|
NM_001148.6(ANK2):c.6060G>A (p.Gln2020=)
|
rs1244990938
|
0.00001
|
NM_001148.6(ANK2):c.6105G>A (p.Pro2035=)
|
rs757880191
|
0.00001
|
NM_001148.6(ANK2):c.6147A>T (p.Thr2049=)
|
rs372014591
|
0.00001
|
NM_001148.6(ANK2):c.6285T>G (p.Pro2095=)
|
rs761106853
|
0.00001
|
NM_001148.6(ANK2):c.630T>C (p.Leu210=)
|
rs759688702
|
0.00001
|
NM_001148.6(ANK2):c.6318A>G (p.Arg2106=)
|
rs762414760
|
0.00001
|
NM_001148.6(ANK2):c.6324C>T (p.Ser2108=)
|
rs765932856
|
0.00001
|
NM_001148.6(ANK2):c.6432G>A (p.Leu2144=)
|
rs773867500
|
0.00001
|
NM_001148.6(ANK2):c.6492T>G (p.Leu2164=)
|
rs1060504152
|
0.00001
|
NM_001148.6(ANK2):c.657C>T (p.Asp219=)
|
rs761137041
|
0.00001
|
NM_001148.6(ANK2):c.6627G>T (p.Gly2209=)
|
rs755239682
|
0.00001
|
NM_001148.6(ANK2):c.6666C>A (p.Thr2222=)
|
rs773101190
|
0.00001
|
NM_001148.6(ANK2):c.6705C>T (p.Gly2235=)
|
rs377644448
|
0.00001
|
NM_001148.6(ANK2):c.684G>A (p.Arg228=)
|
rs376024223
|
0.00001
|
NM_001148.6(ANK2):c.693+20C>A
|
rs759313576
|
0.00001
|
NM_001148.6(ANK2):c.7392T>C (p.Pro2464=)
|
rs1214317931
|
0.00001
|
NM_001148.6(ANK2):c.7452A>G (p.Pro2484=)
|
rs769272083
|
0.00001
|
NM_001148.6(ANK2):c.7518G>T (p.Arg2506=)
|
rs747440582
|
0.00001
|
NM_001148.6(ANK2):c.7587G>A (p.Glu2529=)
|
rs936860550
|
0.00001
|
NM_001148.6(ANK2):c.7848A>G (p.Lys2616=)
|
rs1334157294
|
0.00001
|
NM_001148.6(ANK2):c.7866A>G (p.Ser2622=)
|
rs1261397512
|
0.00001
|
NM_001148.6(ANK2):c.7929G>A (p.Gly2643=)
|
rs776923550
|
0.00001
|
NM_001148.6(ANK2):c.8019T>C (p.Leu2673=)
|
rs200735587
|
0.00001
|
NM_001148.6(ANK2):c.8088A>G (p.Pro2696=)
|
rs747137546
|
0.00001
|
NM_001148.6(ANK2):c.8175T>C (p.Asp2725=)
|
rs754804134
|
0.00001
|
NM_001148.6(ANK2):c.8214T>C (p.Asp2738=)
|
rs180936398
|
0.00001
|
NM_001148.6(ANK2):c.84+7C>T
|
rs762973067
|
0.00001
|
NM_001148.6(ANK2):c.8409A>G (p.Glu2803=)
|
rs74743698
|
0.00001
|
NM_001148.6(ANK2):c.882C>G (p.Ala294=)
|
rs758330357
|
0.00001
|
NM_001148.6(ANK2):c.8955A>G (p.Glu2985=)
|
rs377317854
|
0.00001
|
NM_001148.6(ANK2):c.9045C>T (p.Phe3015=)
|
rs1211416297
|
0.00001
|
NM_001148.6(ANK2):c.921A>G (p.Ala307=)
|
rs1586090494
|
0.00001
|
NM_001148.6(ANK2):c.9225A>T (p.Ser3075=)
|
rs147809741
|
0.00001
|
NM_001148.6(ANK2):c.9471A>G (p.Leu3157=)
|
rs1300523414
|
0.00001
|
NM_001148.6(ANK2):c.9495A>C (p.Ser3165=)
|
rs2095919894
|
0.00001
|
NM_001148.6(ANK2):c.9546T>C (p.Leu3182=)
|
rs762601575
|
0.00001
|
NM_001148.6(ANK2):c.9555C>T (p.Asp3185=)
|
rs371509239
|
0.00001
|
NM_001148.6(ANK2):c.9598C>T (p.Leu3200Phe)
|
rs750774547
|
0.00001
|
NM_001148.6(ANK2):c.9606C>T (p.Ser3202=)
|
rs370760271
|
0.00001
|
NM_001148.6(ANK2):c.9729C>T (p.Ser3243=)
|
rs2095947879
|
0.00001
|
NM_001148.6(ANK2):c.9735C>T (p.Pro3245=)
|
rs572502923
|
0.00001
|
NM_001167623.2(CACNA1C):c.1122C>T (p.Asp374=)
|
rs374268470
|
0.00001
|
NM_001167623.2(CACNA1C):c.1186G>A (p.Val396Ile)
|
rs762756712
|
0.00001
|
NM_001167623.2(CACNA1C):c.1212G>A (p.Leu404=)
|
rs1334409535
|
0.00001
|
NM_001276345.2(TNNT2):c.135G>A (p.Glu45=)
|
rs756174289
|
0.00001
|
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=)
|
rs746492909
|
0.00001
|
NM_001276345.2(TNNT2):c.153C>G (p.Thr51=)
|
rs1347127737
|
0.00001
|
NM_001276345.2(TNNT2):c.163+13T>C
|
rs527486692
|
0.00001
|
NM_001276345.2(TNNT2):c.164-11G>A
|
rs1410150306
|
0.00001
|
NM_001276345.2(TNNT2):c.164-13G>A
|
rs369469475
|
0.00001
|
NM_001276345.2(TNNT2):c.192G>A (p.Glu64=)
|
rs1180516886
|
0.00001
|
NM_001276345.2(TNNT2):c.199+12A>G
|
rs904874768
|
0.00001
|
NM_001276345.2(TNNT2):c.200-4C>G
|
rs397516448
|
0.00001
|
NM_001276345.2(TNNT2):c.21G>T (p.Val7=)
|
rs777128825
|
0.00001
|
NM_001276345.2(TNNT2):c.222A>G (p.Lys74=)
|
rs781024179
|
0.00001
|
NM_001276345.2(TNNT2):c.255G>A (p.Val85=)
|
rs780115529
|
0.00001
|
NM_001276345.2(TNNT2):c.273T>C (p.Asp91=)
|
rs763782935
|
0.00001
|
NM_001276345.2(TNNT2):c.390C>T (p.Leu130=)
|
rs758543857
|
0.00001
|
NM_001276345.2(TNNT2):c.39G>A (p.Glu13=)
|
rs727503516
|
0.00001
|
NM_001276345.2(TNNT2):c.405C>T (p.Asp135=)
|
rs1161852405
|
0.00001
|
NM_001276345.2(TNNT2):c.411+18C>T
|
rs1384231060
|
0.00001
|
NM_001276345.2(TNNT2):c.412-14C>A
|
rs745721749
|
0.00001
|
NM_001276345.2(TNNT2):c.412-8C>T
|
rs781240506
|
0.00001
|
NM_001276345.2(TNNT2):c.450C>T (p.Ile150=)
|
rs200604266
|
0.00001
|
NM_001276345.2(TNNT2):c.459G>A (p.Glu153=)
|
rs775274966
|
0.00001
|
NM_001276345.2(TNNT2):c.52+16T>C
|
rs372210580
|
0.00001
|
NM_001276345.2(TNNT2):c.600+11A>G
|
rs1377139344
|
0.00001
|
NM_001276345.2(TNNT2):c.600+8G>C
|
rs1387765771
|
0.00001
|
NM_001276345.2(TNNT2):c.600+9G>C
|
rs760490476
|
0.00001
|
NM_001276345.2(TNNT2):c.610-6C>T
|
rs45516702
|
0.00001
|
NM_001276345.2(TNNT2):c.642G>A (p.Glu214=)
|
rs772300998
|
0.00001
|
NM_001276345.2(TNNT2):c.67+12A>G
|
rs138757060
|
0.00001
|
NM_001276345.2(TNNT2):c.720-14C>A
|
rs761998371
|
0.00001
|
NM_001276345.2(TNNT2):c.720-9C>A
|
rs763204242
|
0.00001
|
NM_001276345.2(TNNT2):c.778C>T (p.Leu260=)
|
rs977853063
|
0.00001
|
NM_001276345.2(TNNT2):c.810+8G>A
|
rs369645817
|
0.00001
|
NM_001276345.2(TNNT2):c.811-4G>A
|
rs1431082504
|
0.00001
|
NM_001276345.2(TNNT2):c.852-18G>A
|
rs778928540
|
0.00001
|
NM_001276345.2(TNNT2):c.861C>A (p.Thr287=)
|
rs754211195
|
0.00001
|
NM_001308093.3(GATA4):c.1001-13T>C
|
rs913114491
|
0.00001
|
NM_001308093.3(GATA4):c.1008A>G (p.Ser336=)
|
rs752425131
|
0.00001
|
NM_001308093.3(GATA4):c.1077C>T (p.Ser359=)
|
rs375407669
|
0.00001
|
NM_001308093.3(GATA4):c.1095C>A (p.Ile365=)
|
rs1554498776
|
0.00001
|
NM_001308093.3(GATA4):c.1104G>A (p.Glu368=)
|
rs769775284
|
0.00001
|
NM_001308093.3(GATA4):c.1149+8C>T
|
rs1490422997
|
0.00001
|
NM_001308093.3(GATA4):c.1150-7T>C
|
rs776340600
|
0.00001
|
NM_001308093.3(GATA4):c.1161C>T (p.Val387=)
|
rs372993566
|
0.00001
|
NM_001308093.3(GATA4):c.1200C>A (p.Val400=)
|
rs778818575
|
0.00001
|
NM_001308093.3(GATA4):c.1242C>T (p.Pro414=)
|
rs761007335
|
0.00001
|
NM_001308093.3(GATA4):c.159C>T (p.Tyr53=)
|
rs1258554563
|
0.00001
|
NM_001308093.3(GATA4):c.336G>A (p.Gly112=)
|
rs748572046
|
0.00001
|
NM_001308093.3(GATA4):c.375G>A (p.Ala125=)
|
rs1368525776
|
0.00001
|
NM_001308093.3(GATA4):c.510C>A (p.Gly170=)
|
rs1272768214
|
0.00001
|
NM_001308093.3(GATA4):c.576G>T (p.Leu192=)
|
rs1189744811
|
0.00001
|
NM_001308093.3(GATA4):c.582C>T (p.Gly194=)
|
rs1467767687
|
0.00001
|
NM_001308093.3(GATA4):c.588C>T (p.Ala196=)
|
rs1060503829
|
0.00001
|
NM_001308093.3(GATA4):c.594G>A (p.Pro198=)
|
rs1213779475
|
0.00001
|
NM_001308093.3(GATA4):c.616+18G>T
|
rs1174507680
|
0.00001
|
NM_001308093.3(GATA4):c.645C>T (p.Gly215=)
|
rs1411266373
|
0.00001
|
NM_001308093.3(GATA4):c.69C>T (p.Pro23=)
|
rs1411452741
|
0.00001
|
NM_001308093.3(GATA4):c.732C>G (p.Leu244=)
|
rs200443296
|
0.00001
|
NM_001308093.3(GATA4):c.768C>A (p.Ile256=)
|
rs760250504
|
0.00001
|
NM_001308093.3(GATA4):c.786+11G>A
|
rs1165880305
|
0.00001
|
NM_001308093.3(GATA4):c.855C>T (p.Arg285=)
|
rs758475308
|
0.00001
|
NM_001308093.3(GATA4):c.906C>T (p.Leu302=)
|
rs1289378857
|
0.00001
|
NM_001308093.3(GATA4):c.912+7G>T
|
rs759872773
|
0.00001
|
NM_001308093.3(GATA4):c.969C>G (p.Pro323=)
|
rs1802489642
|
0.00001
|
NM_001386795.1(DTNA):c.1002-2320T>A
|
rs1268810426
|
0.00001
|
NM_001386795.1(DTNA):c.1002-2332C>A
|
rs1212752013
|
0.00001
|
NM_001386795.1(DTNA):c.1251A>G (p.Lys417=)
|
rs752820082
|
0.00001
|
NM_001386795.1(DTNA):c.1435-11A>G
|
rs758607581
|
0.00001
|
NM_001386795.1(DTNA):c.1491G>A (p.Lys497=)
|
rs397517444
|
0.00001
|
NM_001386795.1(DTNA):c.1532+17G>A
|
rs777993752
|
0.00001
|
NM_001386795.1(DTNA):c.1533-6C>G
|
rs1238846335
|
0.00001
|
NM_001386795.1(DTNA):c.1562G>A (p.Arg521Gln)
|
rs530066221
|
0.00001
|
NM_001386795.1(DTNA):c.1695C>T (p.Ser565=)
|
rs774966330
|
0.00001
|
NM_001386795.1(DTNA):c.174C>T (p.Val58=)
|
rs145335092
|
0.00001
|
NM_001386795.1(DTNA):c.1857C>T (p.Asp619=)
|
rs1437954707
|
0.00001
|
NM_001386795.1(DTNA):c.1903+19T>C
|
rs2096804951
|
0.00001
|
NM_001386795.1(DTNA):c.2265G>A (p.Leu755=)
|
rs1603352070
|
0.00001
|
NM_001386795.1(DTNA):c.2295+10T>A
|
rs376012937
|
0.00001
|
NM_001386795.1(DTNA):c.264T>C (p.Ile88=)
|
rs776672964
|
0.00001
|
NM_001386795.1(DTNA):c.282A>G (p.Lys94=)
|
rs751436638
|
0.00001
|
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn)
|
rs147115867
|
0.00001
|
NM_001386795.1(DTNA):c.54G>A (p.Leu18=)
|
rs754265551
|
0.00001
|
NM_001386795.1(DTNA):c.603+20A>G
|
rs371565552
|
0.00001
|
NM_001386795.1(DTNA):c.615G>A (p.Thr205=)
|
rs552069190
|
0.00001
|
NM_001386795.1(DTNA):c.633C>T (p.Asp211=)
|
rs1425308391
|
0.00001
|
NM_001386795.1(DTNA):c.68-5A>G
|
rs1243110074
|
0.00001
|
NM_001386795.1(DTNA):c.682C>T (p.Leu228=)
|
rs2095588092
|
0.00001
|
NM_001386795.1(DTNA):c.837T>A (p.Ser279=)
|
rs560476760
|
0.00001
|
NM_001386795.1(DTNA):c.840T>C (p.His280=)
|
rs933476610
|
0.00001
|
NM_001386795.1(DTNA):c.864G>A (p.Glu288=)
|
rs778634462
|
0.00001
|
NM_001386795.1(DTNA):c.876+16G>A
|
rs913518501
|
0.00001
|
NM_001386795.1(DTNA):c.876+9A>G
|
rs933087416
|
0.00001
|
NM_001386795.1(DTNA):c.96C>G (p.Leu32=)
|
rs1162412939
|
0.00001
|
NM_001743.6(CALM2):c.165A>G (p.Glu55=)
|
rs1687190320
|
0.00001
|
NM_001743.6(CALM2):c.285+14_285+20del
|
rs1481884663
|
0.00001
|
NM_001743.6(CALM2):c.3+9A>C
|
rs749288383
|
0.00001
|
NM_001743.6(CALM2):c.429A>G (p.Val143=)
|
rs1400854272
|
0.00001
|
NM_003098.3(SNTA1):c.1104G>A (p.Leu368=)
|
rs758435546
|
0.00001
|
NM_003098.3(SNTA1):c.1245G>A (p.Thr415=)
|
rs780680201
|
0.00001
|
NM_003098.3(SNTA1):c.1386T>C (p.Ser462=)
|
rs1335638175
|
0.00001
|
NM_003098.3(SNTA1):c.1485G>A (p.Ser495=)
|
rs374100952
|
0.00001
|
NM_003098.3(SNTA1):c.173A>G (p.Glu58Gly)
|
rs555231776
|
0.00001
|
NM_003098.3(SNTA1):c.198C>A (p.Gly66=)
|
rs1335292078
|
0.00001
|
NM_003098.3(SNTA1):c.354C>T (p.Phe118=)
|
rs1178809115
|
0.00001
|
NM_003098.3(SNTA1):c.441C>T (p.Thr147=)
|
rs1421000101
|
0.00001
|
NM_003098.3(SNTA1):c.630C>T (p.Ser210=)
|
rs747390007
|
0.00001
|
NM_003098.3(SNTA1):c.816G>A (p.Thr272=)
|
rs371028127
|
0.00001
|
NM_003098.3(SNTA1):c.837G>A (p.Leu279=)
|
rs746607636
|
0.00001
|
NM_003413.4(ZIC3):c.366G>A (p.Gln122=)
|
rs1043815068
|
0.00001
|
NM_003413.4(ZIC3):c.668A>G (p.Asn223Ser)
|
rs1034877221
|
0.00001
|
NM_003413.4(ZIC3):c.870G>A (p.Pro290=)
|
rs757814584
|
0.00001
|
NM_004387.4(NKX2-5):c.111G>A (p.Leu37=)
|
rs746594822
|
0.00001
|
NM_004387.4(NKX2-5):c.117G>A (p.Ala39=)
|
rs1282271902
|
0.00001
|
NM_004387.4(NKX2-5):c.147C>G (p.Ala49=)
|
rs1057523798
|
0.00001
|
NM_004387.4(NKX2-5):c.168C>T (p.Tyr56=)
|
rs756377692
|
0.00001
|
NM_004387.4(NKX2-5):c.173G>T (p.Gly58Val)
|
rs1012750146
|
0.00001
|
NM_004387.4(NKX2-5):c.282A>G (p.Pro94=)
|
rs1468594356
|
0.00001
|
NM_004387.4(NKX2-5):c.387C>T (p.Asn129=)
|
rs750029908
|
0.00001
|
NM_004387.4(NKX2-5):c.420G>A (p.Lys140=)
|
rs1761361713
|
0.00001
|
NM_004387.4(NKX2-5):c.444G>A (p.Ala148=)
|
rs776529245
|
0.00001
|
NM_004387.4(NKX2-5):c.450C>T (p.Val150=)
|
rs376636481
|
0.00001
|
NM_004387.4(NKX2-5):c.48C>T (p.Asp16=)
|
rs1380213330
|
0.00001
|
NM_004387.4(NKX2-5):c.558C>T (p.Phe186=)
|
rs994615466
|
0.00001
|
NM_004387.4(NKX2-5):c.561G>A (p.Gln187=)
|
rs767559311
|
0.00001
|
NM_004387.4(NKX2-5):c.639G>C (p.Pro213=)
|
rs1190579821
|
0.00001
|
NM_004387.4(NKX2-5):c.645C>T (p.Ala215=)
|
rs755052461
|
0.00001
|
NM_004387.4(NKX2-5):c.705G>C (p.Ala235=)
|
rs202071628
|
0.00001
|
NM_004387.4(NKX2-5):c.828C>T (p.Ala276=)
|
rs762836048
|
0.00001
|
NM_004387.4(NKX2-5):c.849G>A (p.Pro283=)
|
rs769114793
|
0.00001
|
NM_004387.4(NKX2-5):c.84T>A (p.Ala28=)
|
rs1403843686
|
0.00001
|
NM_004387.4(NKX2-5):c.957T>C (p.His319=)
|
rs1244640427
|
0.00001
|
NM_004821.3(HAND1):c.183G>A (p.Pro61=)
|
rs774965575
|
0.00001
|
NM_004821.3(HAND1):c.204C>T (p.Ala68=)
|
rs746848071
|
0.00001
|
NM_004821.3(HAND1):c.237G>A (p.Gly79=)
|
rs1415491664
|
0.00001
|
NM_004821.3(HAND1):c.345G>T (p.Ala115=)
|
rs1043638166
|
0.00001
|
NM_004821.3(HAND1):c.357G>C (p.Glu119Asp)
|
rs775093878
|
0.00001
|
NM_004821.3(HAND1):c.544-18C>G
|
rs933165391
|
0.00001
|
NM_005159.5(ACTC1):c.1035C>T (p.Gly345=)
|
rs1430980455
|
0.00001
|
NM_005159.5(ACTC1):c.1044G>A (p.Leu348=)
|
rs1461497941
|
0.00001
|
NM_005159.5(ACTC1):c.108C>T (p.Ile36=)
|
rs1457769757
|
0.00001
|
NM_005159.5(ACTC1):c.1098G>A (p.Glu366=)
|
rs758173419
|
0.00001
|
NM_005159.5(ACTC1):c.1131C>T (p.Phe377=)
|
rs764683976
|
0.00001
|
NM_005159.5(ACTC1):c.117C>T (p.Arg39=)
|
rs751851323
|
0.00001
|
NM_005159.5(ACTC1):c.120G>A (p.Pro40=)
|
rs766934253
|
0.00001
|
NM_005159.5(ACTC1):c.12C>T (p.Asp4=)
|
rs768526036
|
0.00001
|
NM_005159.5(ACTC1):c.130-4A>T
|
rs772110994
|
0.00001
|
NM_005159.5(ACTC1):c.240C>T (p.Asn80=)
|
rs1178754602
|
0.00001
|
NM_005159.5(ACTC1):c.318G>A (p.Leu106=)
|
rs1335305223
|
0.00001
|
NM_005159.5(ACTC1):c.352C>A (p.Arg118=)
|
rs1159252460
|
0.00001
|
NM_005159.5(ACTC1):c.369G>A (p.Gln123=)
|
rs768169477
|
0.00001
|
NM_005159.5(ACTC1):c.423G>A (p.Val141=)
|
rs922191208
|
0.00001
|
NM_005159.5(ACTC1):c.432G>T (p.Leu144=)
|
rs1595761302
|
0.00001
|
NM_005159.5(ACTC1):c.441T>C (p.Ser147=)
|
rs1199593688
|
0.00001
|
NM_005159.5(ACTC1):c.447T>C (p.Arg149=)
|
rs1315206069
|
0.00001
|
NM_005159.5(ACTC1):c.455-14A>G
|
rs902599585
|
0.00001
|
NM_005159.5(ACTC1):c.455-4G>A
|
rs746508669
|
0.00001
|
NM_005159.5(ACTC1):c.455-9C>T
|
rs1891726942
|
0.00001
|
NM_005159.5(ACTC1):c.609C>T (p.Val203=)
|
rs1055408313
|
0.00001
|
NM_005159.5(ACTC1):c.617-7T>C
|
rs750536667
|
0.00001
|
NM_005159.5(ACTC1):c.633C>T (p.Val211=)
|
rs199947846
|
0.00001
|
NM_005159.5(ACTC1):c.663C>T (p.Val221=)
|
rs766868624
|
0.00001
|
NM_005159.5(ACTC1):c.747C>T (p.Val249=)
|
rs1470571495
|
0.00001
|
NM_005159.5(ACTC1):c.756T>C (p.Ile252=)
|
rs371940910
|
0.00001
|
NM_005159.5(ACTC1):c.792C>T (p.Phe264=)
|
rs769158928
|
0.00001
|
NM_005159.5(ACTC1):c.809-9C>T
|
rs752499457
|
0.00001
|
NM_005159.5(ACTC1):c.81C>T (p.Asp27=)
|
rs753552901
|
0.00001
|
NM_005159.5(ACTC1):c.93T>C (p.Ala31=)
|
rs1341945129
|
0.00001
|
NM_005159.5(ACTC1):c.942T>C (p.Arg314=)
|
rs778914066
|
0.00001
|
NM_005184.4(CALM3):c.138A>G (p.Glu46=)
|
rs1454292329
|
0.00001
|
NM_005184.4(CALM3):c.179-18C>T
|
rs761694804
|
0.00001
|
NM_005184.4(CALM3):c.24G>A (p.Glu8=)
|
rs1001080500
|
0.00001
|
NM_005184.4(CALM3):c.286-10C>G
|
rs375255516
|
0.00001
|
NM_005184.4(CALM3):c.286-19C>G
|
rs1478765429
|
0.00001
|
NM_005184.4(CALM3):c.3+13G>A
|
rs759824845
|
0.00001
|
NM_005184.4(CALM3):c.324C>T (p.His108=)
|
rs45587137
|
0.00001
|
NM_005184.4(CALM3):c.366G>A (p.Val122=)
|
rs1261825623
|
0.00001
|
NM_005184.4(CALM3):c.402T>C (p.Asp134=)
|
rs755022859
|
0.00001
|
NM_005184.4(CALM3):c.447G>A (p.Lys149=)
|
rs746647108
|
0.00001
|
NM_005257.6(GATA6):c.1212C>T (p.Asp404=)
|
rs749866394
|
0.00001
|
NM_005257.6(GATA6):c.1290G>T (p.Pro430=)
|
rs1030890046
|
0.00001
|
NM_005257.6(GATA6):c.1332T>C (p.Cys444=)
|
rs2033195222
|
0.00001
|
NM_005257.6(GATA6):c.141C>T (p.Ser47=)
|
rs754073585
|
0.00001
|
NM_005257.6(GATA6):c.1516+10C>T
|
rs201544789
|
0.00001
|
NM_005257.6(GATA6):c.156G>A (p.Arg52=)
|
rs1228736787
|
0.00001
|
NM_005257.6(GATA6):c.1743G>A (p.Thr581=)
|
rs1027770450
|
0.00001
|
NM_005257.6(GATA6):c.203A>T (p.Glu68Val)
|
rs200483324
|
0.00001
|
NM_005257.6(GATA6):c.261C>T (p.Pro87=)
|
rs1293405632
|
0.00001
|
NM_005257.6(GATA6):c.337C>T (p.Leu113=)
|
rs771752366
|
0.00001
|
NM_005257.6(GATA6):c.33G>A (p.Pro11=)
|
rs773163815
|
0.00001
|
NM_005257.6(GATA6):c.459T>C (p.Ala153=)
|
rs752220329
|
0.00001
|
NM_005257.6(GATA6):c.48C>A (p.Ala16=)
|
rs764776127
|
0.00001
|
NM_005257.6(GATA6):c.525G>A (p.Ala175=)
|
rs759587190
|
0.00001
|
NM_005257.6(GATA6):c.597C>T (p.Pro199=)
|
rs1172457864
|
0.00001
|
NM_005257.6(GATA6):c.606G>A (p.Pro202=)
|
rs1407999679
|
0.00001
|
NM_005257.6(GATA6):c.621G>C (p.Gly207=)
|
rs1288470498
|
0.00001
|
NM_005257.6(GATA6):c.729C>T (p.Gly243=)
|
rs1323741166
|
0.00001
|
NM_005257.6(GATA6):c.777C>T (p.Val259=)
|
rs1402116310
|
0.00001
|
NM_005257.6(GATA6):c.789C>T (p.Phe263=)
|
rs1254802999
|
0.00001
|
NM_005257.6(GATA6):c.807G>T (p.Pro269=)
|
rs1301479852
|
0.00001
|
NM_005257.6(GATA6):c.87G>A (p.Ala29=)
|
rs1254633924
|
0.00001
|
NM_005257.6(GATA6):c.924C>T (p.Pro308=)
|
rs1431203656
|
0.00001
|
NM_005257.6(GATA6):c.954G>C (p.Pro318=)
|
rs1313279921
|
0.00001
|
NM_005257.6(GATA6):c.966G>A (p.Thr322=)
|
rs2033060375
|
0.00001
|
NM_005751.5(AKAP9):c.10179A>G (p.Thr3393=)
|
rs1437373369
|
0.00001
|
NM_005751.5(AKAP9):c.10200G>A (p.Glu3400=)
|
rs796565514
|
0.00001
|
NM_005751.5(AKAP9):c.10335G>A (p.Lys3445=)
|
rs755614570
|
0.00001
|
NM_005751.5(AKAP9):c.10419C>T (p.Thr3473=)
|
rs776467620
|
0.00001
|
NM_005751.5(AKAP9):c.1044A>C (p.Leu348=)
|
rs747912745
|
0.00001
|
NM_005751.5(AKAP9):c.10485C>T (p.Tyr3495=)
|
rs764654898
|
0.00001
|
NM_005751.5(AKAP9):c.11037A>G (p.Glu3679=)
|
rs746472680
|
0.00001
|
NM_005751.5(AKAP9):c.11142T>A (p.Ala3714=)
|
rs1038760302
|
0.00001
|
NM_005751.5(AKAP9):c.11157G>A (p.Lys3719=)
|
rs1060504955
|
0.00001
|
NM_005751.5(AKAP9):c.11301G>A (p.Ser3767=)
|
rs764711357
|
0.00001
|
NM_005751.5(AKAP9):c.11316C>T (p.Ser3772=)
|
rs185491437
|
0.00001
|
NM_005751.5(AKAP9):c.11340T>C (p.Phe3780=)
|
rs756185133
|
0.00001
|
NM_005751.5(AKAP9):c.1134A>G (p.Leu378=)
|
rs541883996
|
0.00001
|
NM_005751.5(AKAP9):c.177A>G (p.Gln59=)
|
rs368162150
|
0.00001
|
NM_005751.5(AKAP9):c.2181A>G (p.Glu727=)
|
rs1316869578
|
0.00001
|
NM_005751.5(AKAP9):c.2328G>A (p.Glu776=)
|
rs78221443
|
0.00001
|
NM_005751.5(AKAP9):c.2520T>C (p.Asn840=)
|
rs775917820
|
0.00001
|
NM_005751.5(AKAP9):c.2625A>G (p.Lys875=)
|
rs775799706
|
0.00001
|
NM_005751.5(AKAP9):c.2793T>A (p.Gly931=)
|
rs756987521
|
0.00001
|
NM_005751.5(AKAP9):c.352-12G>A
|
rs761240315
|
0.00001
|
NM_005751.5(AKAP9):c.3533-17A>G
|
rs899307339
|
0.00001
|
NM_005751.5(AKAP9):c.3645T>C (p.Thr1215=)
|
rs372167195
|
0.00001
|
NM_005751.5(AKAP9):c.3672A>G (p.Ala1224=)
|
rs892241767
|
0.00001
|
NM_005751.5(AKAP9):c.3741T>C (p.Tyr1247=)
|
rs1411763455
|
0.00001
|
NM_005751.5(AKAP9):c.3838-10T>C
|
rs1426775226
|
0.00001
|
NM_005751.5(AKAP9):c.4017A>G (p.Gln1339=)
|
rs1802527615
|
0.00001
|
NM_005751.5(AKAP9):c.405+19C>T
|
rs1187490453
|
0.00001
|
NM_005751.5(AKAP9):c.4098C>T (p.His1366=)
|
rs907372253
|
0.00001
|
NM_005751.5(AKAP9):c.4149-12A>C
|
rs768017962
|
0.00001
|
NM_005751.5(AKAP9):c.4149-4T>C
|
rs565975524
|
0.00001
|
NM_005751.5(AKAP9):c.4362A>G (p.Ala1454=)
|
rs1047659808
|
0.00001
|
NM_005751.5(AKAP9):c.438T>C (p.Ser146=)
|
rs753770347
|
0.00001
|
NM_005751.5(AKAP9):c.4401A>G (p.Gly1467=)
|
rs1215615118
|
0.00001
|
NM_005751.5(AKAP9):c.4431A>G (p.Ala1477=)
|
rs780559414
|
0.00001
|
NM_005751.5(AKAP9):c.4692+14C>G
|
rs761520797
|
0.00001
|
NM_005751.5(AKAP9):c.4764A>G (p.Glu1588=)
|
rs778957233
|
0.00001
|
NM_005751.5(AKAP9):c.4881A>G (p.Gln1627=)
|
rs765317913
|
0.00001
|
NM_005751.5(AKAP9):c.4908A>G (p.Gln1636=)
|
rs777713030
|
0.00001
|
NM_005751.5(AKAP9):c.4971A>G (p.Leu1657=)
|
rs1490213211
|
0.00001
|
NM_005751.5(AKAP9):c.5049G>A (p.Thr1683=)
|
rs757137701
|
0.00001
|
NM_005751.5(AKAP9):c.5163-8C>T
|
rs940997249
|
0.00001
|
NM_005751.5(AKAP9):c.5358A>G (p.Glu1786=)
|
rs371133254
|
0.00001
|
NM_005751.5(AKAP9):c.54C>A (p.Ala18=)
|
rs770850802
|
0.00001
|
NM_005751.5(AKAP9):c.5523A>G (p.Glu1841=)
|
rs761370402
|
0.00001
|
NM_005751.5(AKAP9):c.5613G>A (p.Ala1871=)
|
rs778297562
|
0.00001
|
NM_005751.5(AKAP9):c.5765-7A>G
|
rs751012743
|
0.00001
|
NM_005751.5(AKAP9):c.5766C>T (p.Gly1922=)
|
rs781051056
|
0.00001
|
NM_005751.5(AKAP9):c.577-18C>T
|
rs1329104112
|
0.00001
|
NM_005751.5(AKAP9):c.5977+8T>C
|
rs764652601
|
0.00001
|
NM_005751.5(AKAP9):c.6027A>G (p.Gln2009=)
|
rs556260953
|
0.00001
|
NM_005751.5(AKAP9):c.6165C>T (p.Asn2055=)
|
rs766673963
|
0.00001
|
NM_005751.5(AKAP9):c.6210+20A>G
|
rs1810624974
|
0.00001
|
NM_005751.5(AKAP9):c.6237G>A (p.Glu2079=)
|
rs537731606
|
0.00001
|
NM_005751.5(AKAP9):c.6477G>A (p.Ala2159=)
|
rs780419888
|
0.00001
|
NM_005751.5(AKAP9):c.6612+8G>T
|
rs755377393
|
0.00001
|
NM_005751.5(AKAP9):c.6613-10G>A
|
rs1304799923
|
0.00001
|
NM_005751.5(AKAP9):c.6669T>C (p.Asn2223=)
|
rs551316515
|
0.00001
|
NM_005751.5(AKAP9):c.6672A>G (p.Glu2224=)
|
rs868365021
|
0.00001
|
NM_005751.5(AKAP9):c.6756A>G (p.Lys2252=)
|
rs768123631
|
0.00001
|
NM_005751.5(AKAP9):c.6915G>A (p.Gln2305=)
|
rs776992805
|
0.00001
|
NM_005751.5(AKAP9):c.6996A>G (p.Glu2332=)
|
rs1315064294
|
0.00001
|
NM_005751.5(AKAP9):c.7122T>C (p.Ala2374=)
|
rs771287562
|
0.00001
|
NM_005751.5(AKAP9):c.7356C>T (p.Asn2452=)
|
rs747269042
|
0.00001
|
NM_005751.5(AKAP9):c.738G>A (p.Gln246=)
|
rs1460983721
|
0.00001
|
NM_005751.5(AKAP9):c.7683T>C (p.Leu2561=)
|
rs746961943
|
0.00001
|
NM_005751.5(AKAP9):c.7788G>A (p.Glu2596=)
|
rs777561134
|
0.00001
|
NM_005751.5(AKAP9):c.8013T>C (p.Val2671=)
|
rs771712081
|
0.00001
|
NM_005751.5(AKAP9):c.8020-12G>A
|
rs779767584
|
0.00001
|
NM_005751.5(AKAP9):c.8020-5T>C
|
rs375175124
|
0.00001
|
NM_005751.5(AKAP9):c.8052A>G (p.Glu2684=)
|
rs878854810
|
0.00001
|
NM_005751.5(AKAP9):c.8161-6T>A
|
rs554984079
|
0.00001
|
NM_005751.5(AKAP9):c.8490G>A (p.Lys2830=)
|
rs772173332
|
0.00001
|
NM_005751.5(AKAP9):c.8610C>A (p.Thr2870=)
|
rs148603859
|
0.00001
|
NM_005751.5(AKAP9):c.8688G>A (p.Gln2896=)
|
rs751625334
|
0.00001
|
NM_005751.5(AKAP9):c.8710+18T>C
|
rs1814202128
|
0.00001
|
NM_005751.5(AKAP9):c.8833-15G>A
|
rs181600318
|
0.00001
|
NM_005751.5(AKAP9):c.8892C>G (p.Pro2964=)
|
rs1172853201
|
0.00001
|
NM_005751.5(AKAP9):c.9012A>G (p.Gln3004=)
|
rs1401144711
|
0.00001
|
NM_005751.5(AKAP9):c.9108A>G (p.Glu3036=)
|
rs1199129544
|
0.00001
|
NM_005751.5(AKAP9):c.9165A>G (p.Thr3055=)
|
rs775921193
|
0.00001
|
NM_005751.5(AKAP9):c.9214-7G>A
|
rs772360609
|
0.00001
|
NM_005751.5(AKAP9):c.931-8T>C
|
rs1359812106
|
0.00001
|
NM_005751.5(AKAP9):c.9358+17G>C
|
rs76156185
|
0.00001
|
NM_005751.5(AKAP9):c.9468T>G (p.Ser3156=)
|
rs759583976
|
0.00001
|
NM_005751.5(AKAP9):c.9517T>C (p.Leu3173=)
|
rs756495468
|
0.00001
|
NM_005751.5(AKAP9):c.9678A>G (p.Lys3226=)
|
rs766928167
|
0.00001
|
NM_005751.5(AKAP9):c.9711G>T (p.Arg3237=)
|
rs747049411
|
0.00001
|
NM_006888.6(CALM1):c.183T>C (p.Asn61=)
|
rs751759267
|
0.00001
|
NM_006888.6(CALM1):c.201C>T (p.Pro67=)
|
rs762047997
|
0.00001
|
NM_006888.6(CALM1):c.273A>G (p.Arg91=)
|
rs1211887414
|
0.00001
|
NM_006888.6(CALM1):c.4-9T>A
|
rs1213908678
|
0.00001
|
NM_006888.6(CALM1):c.417T>C (p.Tyr139=)
|
rs377521523
|
0.00001
|
NM_006888.6(CALM1):c.421+8_421+9del
|
rs767443947
|
0.00001
|
NM_006888.6(CALM1):c.422-16dup
|
rs776212211
|
0.00001
|
NM_006888.6(CALM1):c.422-20T>C
|
rs1232803707
|
0.00001
|
NM_006888.6(CALM1):c.426C>T (p.Phe142=)
|
rs199744595
|
0.00001
|
NM_015335.5(MED13L):c.1091G>A (p.Arg364Lys)
|
rs993003177
|
0.00001
|
NM_015335.5(MED13L):c.1175+5G>A
|
rs567368642
|
0.00001
|
NM_015335.5(MED13L):c.1385C>T (p.Pro462Leu)
|
rs772715909
|
0.00001
|
NM_015335.5(MED13L):c.1859G>A (p.Gly620Glu)
|
rs780566155
|
0.00001
|
NM_015335.5(MED13L):c.2075C>G (p.Pro692Arg)
|
rs781324695
|
0.00001
|
NM_015335.5(MED13L):c.2211G>A (p.Thr737=)
|
rs747879843
|
0.00001
|
NM_015335.5(MED13L):c.2570-11C>G
|
rs765381458
|
0.00001
|
NM_015335.5(MED13L):c.2871G>A (p.Pro957=)
|
rs771187948
|
0.00001
|
NM_015335.5(MED13L):c.3000C>T (p.Asn1000=)
|
rs775221277
|
0.00001
|
NM_015335.5(MED13L):c.360G>A (p.Thr120=)
|
rs534984622
|
0.00001
|
NM_015335.5(MED13L):c.3834G>A (p.Ala1278=)
|
rs145466664
|
0.00001
|
NM_015335.5(MED13L):c.4275A>G (p.Pro1425=)
|
rs112942800
|
0.00001
|
NM_015335.5(MED13L):c.4368C>T (p.Ile1456=)
|
rs1592915963
|
0.00001
|
NM_015335.5(MED13L):c.4386C>T (p.Asp1462=)
|
rs760971347
|
0.00001
|
NM_015335.5(MED13L):c.4839G>A (p.Gly1613=)
|
rs754275970
|
0.00001
|
NM_015335.5(MED13L):c.4956-10C>G
|
rs1060504701
|
0.00001
|
NM_015335.5(MED13L):c.4956-5T>A
|
rs771118133
|
0.00001
|
NM_015335.5(MED13L):c.4988C>T (p.Thr1663Met)
|
rs142102185
|
0.00001
|
NM_015335.5(MED13L):c.5052G>A (p.Pro1684=)
|
rs753488932
|
0.00001
|
NM_015335.5(MED13L):c.5376A>G (p.Pro1792=)
|
rs779527731
|
0.00001
|
NM_015335.5(MED13L):c.5409C>T (p.Ala1803=)
|
rs756949902
|
0.00001
|
NM_015335.5(MED13L):c.546G>A (p.Glu182=)
|
rs781132536
|
0.00001
|
NM_015335.5(MED13L):c.57C>A (p.Ser19=)
|
rs1060504702
|
0.00001
|
NM_015335.5(MED13L):c.6318T>C (p.Ala2106=)
|
rs1258835287
|
0.00001
|
NM_015335.5(MED13L):c.861C>A (p.Ile287=)
|
rs61756230
|
0.00001
|
NM_015335.5(MED13L):c.879G>A (p.Pro293=)
|
rs140586744
|
0.00001
|
NM_018055.5(NODAL):c.473C>T (p.Pro158Leu)
|
rs772585502
|
0.00001
|
NM_021005.4(NR2F2):c.1206C>T (p.Ser402=)
|
rs757077299
|
0.00001
|
NM_021005.4(NR2F2):c.789C>T (p.Pro263=)
|
rs1174849712
|
0.00001
|
NM_021005.4(NR2F2):c.882C>T (p.Ile294=)
|
rs1163679972
|
0.00001
|
NM_021005.4(NR2F2):c.918C>T (p.His306=)
|
rs751816358
|
0.00001
|
NM_021005.4(NR2F2):c.971-11C>T
|
rs1208596248
|
0.00001
|
NM_022114.4(PRDM16):c.1032+12G>A
|
rs751952895
|
0.00001
|
NM_022114.4(PRDM16):c.1032+9C>T
|
rs752780796
|
0.00001
|
NM_022114.4(PRDM16):c.1033-14A>G
|
rs778504357
|
0.00001
|
NM_022114.4(PRDM16):c.1062G>A (p.Arg354=)
|
rs749348281
|
0.00001
|
NM_022114.4(PRDM16):c.1131G>A (p.Thr377=)
|
rs769778096
|
0.00001
|
NM_022114.4(PRDM16):c.1158T>C (p.His386=)
|
rs1260995619
|
0.00001
|
NM_022114.4(PRDM16):c.1187-8T>C
|
rs1183088688
|
0.00001
|
NM_022114.4(PRDM16):c.132G>A (p.Ser44=)
|
rs373546344
|
0.00001
|
NM_022114.4(PRDM16):c.1461G>A (p.Glu487=)
|
rs374384603
|
0.00001
|
NM_022114.4(PRDM16):c.1564T>C (p.Leu522=)
|
rs376746589
|
0.00001
|
NM_022114.4(PRDM16):c.1651C>T (p.Leu551=)
|
rs757695488
|
0.00001
|
NM_022114.4(PRDM16):c.1707G>A (p.Thr569=)
|
rs774578880
|
0.00001
|
NM_022114.4(PRDM16):c.1725C>T (p.Pro575=)
|
rs753442334
|
0.00001
|
NM_022114.4(PRDM16):c.1788C>T (p.Ser596=)
|
rs766972389
|
0.00001
|
NM_022114.4(PRDM16):c.1807G>A (p.Asp603Asn)
|
rs199984813
|
0.00001
|
NM_022114.4(PRDM16):c.1818C>T (p.Asp606=)
|
rs372578303
|
0.00001
|
NM_022114.4(PRDM16):c.1884C>T (p.Asp628=)
|
rs762491643
|
0.00001
|
NM_022114.4(PRDM16):c.1929C>T (p.Ala643=)
|
rs781608108
|
0.00001
|
NM_022114.4(PRDM16):c.1977G>A (p.Pro659=)
|
rs759550479
|
0.00001
|
NM_022114.4(PRDM16):c.1995G>A (p.Val665=)
|
rs370328226
|
0.00001
|
NM_022114.4(PRDM16):c.2067C>T (p.Ala689=)
|
rs371813954
|
0.00001
|
NM_022114.4(PRDM16):c.2106G>A (p.Lys702=)
|
rs776564044
|
0.00001
|
NM_022114.4(PRDM16):c.2169G>A (p.Ser723=)
|
rs775363690
|
0.00001
|
NM_022114.4(PRDM16):c.2188C>T (p.Leu730=)
|
rs998587011
|
0.00001
|
NM_022114.4(PRDM16):c.2316C>T (p.Pro772=)
|
rs1643709868
|
0.00001
|
NM_022114.4(PRDM16):c.2358G>C (p.Leu786=)
|
rs539709297
|
0.00001
|
NM_022114.4(PRDM16):c.2376C>T (p.Pro792=)
|
rs765834618
|
0.00001
|
NM_022114.4(PRDM16):c.2385C>T (p.Pro795=)
|
rs752553894
|
0.00001
|
NM_022114.4(PRDM16):c.2436T>A (p.Arg812=)
|
rs1287494453
|
0.00001
|
NM_022114.4(PRDM16):c.2457G>A (p.Gly819=)
|
rs779330948
|
0.00001
|
NM_022114.4(PRDM16):c.2556G>A (p.Pro852=)
|
rs570631594
|
0.00001
|
NM_022114.4(PRDM16):c.2565C>T (p.Tyr855=)
|
rs769253322
|
0.00001
|
NM_022114.4(PRDM16):c.2568C>T (p.Ala856=)
|
rs1028577681
|
0.00001
|
NM_022114.4(PRDM16):c.267C>T (p.Ser89=)
|
rs1375652103
|
0.00001
|
NM_022114.4(PRDM16):c.2772C>G (p.Pro924=)
|
rs759889503
|
0.00001
|
NM_022114.4(PRDM16):c.2820C>T (p.Ser940=)
|
rs764764989
|
0.00001
|
NM_022114.4(PRDM16):c.2861+9C>G
|
rs1311984735
|
0.00001
|
NM_022114.4(PRDM16):c.2940-16C>T
|
rs374845861
|
0.00001
|
NM_022114.4(PRDM16):c.2976G>A (p.Ser992=)
|
rs558657594
|
0.00001
|
NM_022114.4(PRDM16):c.2991C>T (p.His997=)
|
rs1230593041
|
0.00001
|
NM_022114.4(PRDM16):c.3090C>T (p.His1030=)
|
rs768283494
|
0.00001
|
NM_022114.4(PRDM16):c.30A>G (p.Leu10=)
|
rs776122259
|
0.00001
|
NM_022114.4(PRDM16):c.3110-6C>T
|
rs1300909185
|
0.00001
|
NM_022114.4(PRDM16):c.3123C>T (p.Pro1041=)
|
rs111922473
|
0.00001
|
NM_022114.4(PRDM16):c.3129C>T (p.Val1043=)
|
rs199507891
|
0.00001
|
NM_022114.4(PRDM16):c.3189A>G (p.Ala1063=)
|
rs1557670065
|
0.00001
|
NM_022114.4(PRDM16):c.3210C>T (p.Asp1070=)
|
rs1408885025
|
0.00001
|
NM_022114.4(PRDM16):c.3288G>A (p.Ala1096=)
|
rs754951901
|
0.00001
|
NM_022114.4(PRDM16):c.3300C>T (p.Ile1100=)
|
rs757372504
|
0.00001
|
NM_022114.4(PRDM16):c.3444G>A (p.Glu1148=)
|
rs370445519
|
0.00001
|
NM_022114.4(PRDM16):c.3459C>T (p.Tyr1153=)
|
rs994086253
|
0.00001
|
NM_022114.4(PRDM16):c.3522-15C>T
|
rs768576120
|
0.00001
|
NM_022114.4(PRDM16):c.3564G>A (p.Pro1188=)
|
rs1439452609
|
0.00001
|
NM_022114.4(PRDM16):c.3579G>A (p.Gly1193=)
|
rs1172414043
|
0.00001
|
NM_022114.4(PRDM16):c.366G>A (p.Lys122=)
|
rs763380749
|
0.00001
|
NM_022114.4(PRDM16):c.3697-12C>T
|
rs758164093
|
0.00001
|
NM_022114.4(PRDM16):c.3697-6C>T
|
rs746937579
|
0.00001
|
NM_022114.4(PRDM16):c.3729C>T (p.Asp1243=)
|
rs1198367549
|
0.00001
|
NM_022114.4(PRDM16):c.3750C>T (p.Ser1250=)
|
rs546815156
|
0.00001
|
NM_022114.4(PRDM16):c.3792G>A (p.Thr1264=)
|
rs566695262
|
0.00001
|
NM_022114.4(PRDM16):c.3795G>A (p.Ser1265=)
|
rs777228666
|
0.00001
|
NM_022114.4(PRDM16):c.387+11G>A
|
rs748135291
|
0.00001
|
NM_022114.4(PRDM16):c.402C>T (p.Asp134=)
|
rs779682238
|
0.00001
|
NM_022114.4(PRDM16):c.666C>T (p.Pro222=)
|
rs876657565
|
0.00001
|
NM_022114.4(PRDM16):c.831C>T (p.Ser277=)
|
rs1278770328
|
0.00001
|
NM_022114.4(PRDM16):c.882C>T (p.Tyr294=)
|
rs985187014
|
0.00001
|
NM_022114.4(PRDM16):c.885-13G>A
|
rs908696915
|
0.00001
|
NM_022114.4(PRDM16):c.936C>T (p.Asp312=)
|
rs752864531
|
0.00001
|
NM_022114.4(PRDM16):c.954C>T (p.Phe318=)
|
rs758648409
|
0.00001
|
NM_022114.4(PRDM16):c.993C>T (p.His331=)
|
rs374504712
|
0.00001
|
NM_022114.4(PRDM16):c.999C>T (p.Ser333=)
|
rs779735049
|
0.00001
|
NM_033337.3(CAV3):c.114+11C>T
|
rs779911803
|
0.00001
|
NM_033337.3(CAV3):c.117G>C (p.Val39=)
|
rs753959620
|
0.00001
|
NM_033337.3(CAV3):c.165C>T (p.Asp55=)
|
rs759446749
|
0.00001
|
NM_033337.3(CAV3):c.273G>A (p.Leu91=)
|
rs368976665
|
0.00001
|
NM_033337.3(CAV3):c.318C>T (p.Cys106=)
|
rs1478420018
|
0.00001
|
NM_033337.3(CAV3):c.435G>T (p.Val145=)
|
rs758111937
|
0.00001
|
NM_033337.3(CAV3):c.60G>A (p.Lys20=)
|
rs972788554
|
0.00001
|
NM_145020.5(CFAP53):c.1059A>G (p.Glu353=)
|
rs762156930
|
0.00001
|
NM_172201.2(KCNE2):c.246C>T (p.Asp82=)
|
rs774193019
|
0.00001
|
NM_172201.2(KCNE2):c.261C>T (p.Tyr87=)
|
rs587781005
|
0.00001
|
NM_172201.2(KCNE2):c.318G>A (p.Ser106=)
|
rs781438592
|
0.00001
|
NM_172201.2(KCNE2):c.351T>G (p.Ala117=)
|
rs1568814278
|
0.00001
|
NM_172201.2(KCNE2):c.60T>C (p.Ile20=)
|
rs1213881768
|
0.00001
|
NM_174934.4(SCN4B):c.21A>G (p.Gly7=)
|
rs1332884912
|
0.00001
|
NM_174934.4(SCN4B):c.234+14G>A
|
rs1300967093
|
0.00001
|
NM_174934.4(SCN4B):c.235-13C>T
|
rs757744201
|
0.00001
|
NM_174934.4(SCN4B):c.33G>C (p.Pro11=)
|
rs755861941
|
0.00001
|
NM_174934.4(SCN4B):c.513C>T (p.Gly171=)
|
rs368141412
|
0.00001
|
NM_174934.4(SCN4B):c.546G>A (p.Leu182=)
|
rs1306208725
|
0.00001
|
NM_174934.4(SCN4B):c.579G>A (p.Lys193=)
|
rs202087057
|
0.00001
|
NM_174934.4(SCN4B):c.606C>T (p.Leu202=)
|
rs1047192753
|
0.00001
|
NM_174934.4(SCN4B):c.630C>T (p.Asn210=)
|
rs1418864816
|
0.00001
|
NM_174934.4(SCN4B):c.78C>T (p.Pro26=)
|
rs1326784999
|
0.00001
|
NM_000218.3(KCNQ1):c.1014C>T (p.Ser338=)
|
|
|
NM_000218.3(KCNQ1):c.1026C>A (p.Leu342=)
|
rs1848537794
|
|
NM_000218.3(KCNQ1):c.1032+12G>A
|
rs1011077828
|
|
NM_000218.3(KCNQ1):c.1032+16G>A
|
|
|
NM_000218.3(KCNQ1):c.1032+19C>T
|
|
|
NM_000218.3(KCNQ1):c.1032+20G>A
|
|
|
NM_000218.3(KCNQ1):c.1032+7G>A
|
rs760839693
|
|
NM_000218.3(KCNQ1):c.1032+8C>T
|
rs2133751041
|
|
NM_000218.3(KCNQ1):c.1033-12A>C
|
rs200423553
|
|
NM_000218.3(KCNQ1):c.1033-14C>A
|
|
|
NM_000218.3(KCNQ1):c.1033-19C>T
|
|
|
NM_000218.3(KCNQ1):c.1033-5C>T
|
rs764094211
|
|
NM_000218.3(KCNQ1):c.1047G>C (p.Ser349=)
|
|
|
NM_000218.3(KCNQ1):c.105C>T (p.Pro35=)
|
|
|
NM_000218.3(KCNQ1):c.1089C>T (p.His363=)
|
rs1589967006
|
|
NM_000218.3(KCNQ1):c.1095C>T (p.Asn365=)
|
rs1589967022
|
|
NM_000218.3(KCNQ1):c.1098G>A (p.Arg366=)
|
rs1848576720
|
|
NM_000218.3(KCNQ1):c.1101G>A (p.Gln367=)
|
rs199473663
|
|
NM_000218.3(KCNQ1):c.1104C>A (p.Ile368=)
|
|
|
NM_000218.3(KCNQ1):c.1113A>T (p.Ala371=)
|
rs2133754803
|
|
NM_000218.3(KCNQ1):c.1128+15A>G
|
|
|
NM_000218.3(KCNQ1):c.1128+20C>T
|
|
|
NM_000218.3(KCNQ1):c.1128+9C>T
|
|
|
NM_000218.3(KCNQ1):c.1129-17C>A
|
rs374941727
|
|
NM_000218.3(KCNQ1):c.1129-17C>T
|
|
|
NM_000218.3(KCNQ1):c.1129-18C>T
|
|
|
NM_000218.3(KCNQ1):c.1129-8G>A
|
rs200612600
|
|
NM_000218.3(KCNQ1):c.1129-8G>C
|
|
|
NM_000218.3(KCNQ1):c.1129-8G>T
|
rs200612600
|
|
NM_000218.3(KCNQ1):c.1146T>C (p.Tyr382=)
|
rs2133758141
|
|
NM_000218.3(KCNQ1):c.114G>A (p.Leu38=)
|
rs1386513213
|
|
NM_000218.3(KCNQ1):c.1158C>T (p.Asn386=)
|
|
|
NM_000218.3(KCNQ1):c.1188C>A (p.Ile396=)
|
rs2133758311
|
|
NM_000218.3(KCNQ1):c.1195G>T (p.Ala399Ser)
|
rs571899254
|
|
NM_000218.3(KCNQ1):c.1197C>T (p.Ala399=)
|
|
|
NM_000218.3(KCNQ1):c.1200C>T (p.Pro400=)
|
|
|
NM_000218.3(KCNQ1):c.1218G>A (p.Leu406=)
|
rs890420565
|
|
NM_000218.3(KCNQ1):c.1221A>G (p.Ser407=)
|
rs1589968626
|
|
NM_000218.3(KCNQ1):c.1224C>T (p.Pro408=)
|
rs1342663112
|
|
NM_000218.3(KCNQ1):c.1236C>G (p.Pro412=)
|
rs1060503984
|
|
NM_000218.3(KCNQ1):c.1236C>T (p.Pro412=)
|
rs1060503984
|
|
NM_000218.3(KCNQ1):c.1248G>C (p.Val416=)
|
|
|
NM_000218.3(KCNQ1):c.1251+13C>A
|
rs201364493
|
|
NM_000218.3(KCNQ1):c.1251+13C>G
|
|
|
NM_000218.3(KCNQ1):c.1251+13C>T
|
rs201364493
|
|
NM_000218.3(KCNQ1):c.1251+7A>G
|
|
|
NM_000218.3(KCNQ1):c.1251+9C>T
|
|
|
NM_000218.3(KCNQ1):c.1252-11_1252-9del
|
|
|
NM_000218.3(KCNQ1):c.1252-18T>C
|
|
|
NM_000218.3(KCNQ1):c.1252-19G>C
|
|
|
NM_000218.3(KCNQ1):c.1252-20T>C
|
|
|
NM_000218.3(KCNQ1):c.1252-8T>C
|
rs761247239
|
|
NM_000218.3(KCNQ1):c.1260A>G (p.Lys420=)
|
|
|
NM_000218.3(KCNQ1):c.1272G>A (p.Lys424=)
|
|
|
NM_000218.3(KCNQ1):c.1287T>C (p.Asn429=)
|
|
|
NM_000218.3(KCNQ1):c.1290G>A (p.Gly430=)
|
rs1848629909
|
|
NM_000218.3(KCNQ1):c.1317A>G (p.Thr439=)
|
|
|
NM_000218.3(KCNQ1):c.1320C>A (p.Val440=)
|
rs781151116
|
|
NM_000218.3(KCNQ1):c.1320C>G (p.Val440=)
|
rs781151116
|
|
NM_000218.3(KCNQ1):c.1323C>A (p.Pro441=)
|
|
|
NM_000218.3(KCNQ1):c.1326T>C (p.His442=)
|
|
|
NM_000218.3(KCNQ1):c.1338C>A (p.Asp446Glu)
|
rs199472780
|
|
NM_000218.3(KCNQ1):c.1338C>G (p.Asp446Glu)
|
rs199472780
|
|
NM_000218.3(KCNQ1):c.1340C>A (p.Pro447His)
|
rs143149582
|
|
NM_000218.3(KCNQ1):c.1341C>T (p.Pro447=)
|
rs374829273
|
|
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu)
|
rs12720449
|
|
NM_000218.3(KCNQ1):c.1350G>A (p.Glu450=)
|
rs767449004
|
|
NM_000218.3(KCNQ1):c.1356G>A (p.Arg452=)
|
rs753619991
|
|
NM_000218.3(KCNQ1):c.1359G>A (p.Leu453=)
|
|
|
NM_000218.3(KCNQ1):c.135G>A (p.Pro45=)
|
|
|
NM_000218.3(KCNQ1):c.135G>C (p.Pro45=)
|
|
|
NM_000218.3(KCNQ1):c.1368C>T (p.Phe456=)
|
|
|
NM_000218.3(KCNQ1):c.1374C>T (p.Val458=)
|
rs778598703
|
|
NM_000218.3(KCNQ1):c.1393+19G>A
|
|
|
NM_000218.3(KCNQ1):c.1393+9C>T
|
rs774803201
|
|
NM_000218.3(KCNQ1):c.1394-12C>T
|
|
|
NM_000218.3(KCNQ1):c.1394-13_1394-12del
|
rs550005589
|
|
NM_000218.3(KCNQ1):c.1394-6C>A
|
rs759714698
|
|
NM_000218.3(KCNQ1):c.1394-6C>T
|
rs759714698
|
|
NM_000218.3(KCNQ1):c.1394-8C>A
|
rs371488379
|
|
NM_000218.3(KCNQ1):c.1394-8C>G
|
rs371488379
|
|
NM_000218.3(KCNQ1):c.1394-9T>C
|
|
|
NM_000218.3(KCNQ1):c.1431C>G (p.Pro477=)
|
|
|
NM_000218.3(KCNQ1):c.1449C>T (p.Asn483=)
|
rs1849966701
|
|
NM_000218.3(KCNQ1):c.144C>G (p.Gly48=)
|
rs1060503985
|
|
NM_000218.3(KCNQ1):c.1467G>C (p.Leu489=)
|
rs1849967508
|
|
NM_000218.3(KCNQ1):c.147G>T (p.Ala49=)
|
rs2133559634
|
|
NM_000218.3(KCNQ1):c.1494A>G (p.Thr498=)
|
rs2133856204
|
|
NM_000218.3(KCNQ1):c.1514+10T>C
|
rs2133856285
|
|
NM_000218.3(KCNQ1):c.1514+17G>T
|
|
|
NM_000218.3(KCNQ1):c.1515-10T>C
|
|
|
NM_000218.3(KCNQ1):c.1515-13C>G
|
rs2133980915
|
|
NM_000218.3(KCNQ1):c.1515-16C>T
|
|
|
NM_000218.3(KCNQ1):c.1587C>T (p.Phe529=)
|
|
|
NM_000218.3(KCNQ1):c.1590+10G>A
|
rs2133981173
|
|
NM_000218.3(KCNQ1):c.1590+18C>G
|
rs1415384223
|
|
NM_000218.3(KCNQ1):c.1590+18C>T
|
|
|
NM_000218.3(KCNQ1):c.1590+8C>A
|
rs2133981170
|
|
NM_000218.3(KCNQ1):c.1590+8C>T
|
|
|
NM_000218.3(KCNQ1):c.1591-17G>A
|
|
|
NM_000218.3(KCNQ1):c.1591-20C>T
|
rs772628940
|
|
NM_000218.3(KCNQ1):c.1596G>T (p.Ala532=)
|
rs558452873
|
|
NM_000218.3(KCNQ1):c.1599G>A (p.Arg533=)
|
|
|
NM_000218.3(KCNQ1):c.159C>T (p.Pro53=)
|
rs1057520456
|
|
NM_000218.3(KCNQ1):c.15C>T (p.Ser5=)
|
|
|
NM_000218.3(KCNQ1):c.1611T>C (p.Asp537=)
|
rs1590081349
|
|
NM_000218.3(KCNQ1):c.1632G>A (p.Gln544=)
|
|
|
NM_000218.3(KCNQ1):c.1638G>T (p.Ser546=)
|
|
|
NM_000218.3(KCNQ1):c.1665C>T (p.Arg555=)
|
rs878853755
|
|
NM_000218.3(KCNQ1):c.1674G>A (p.Glu558=)
|
rs2133989416
|
|
NM_000218.3(KCNQ1):c.1685+11C>A
|
|
|
NM_000218.3(KCNQ1):c.1685+15A>G
|
|
|
NM_000218.3(KCNQ1):c.1685+16C>T
|
|
|
NM_000218.3(KCNQ1):c.1685+17G>A
|
rs977469911
|
|
NM_000218.3(KCNQ1):c.1686-14G>A
|
|
|
NM_000218.3(KCNQ1):c.1689G>A (p.Leu563=)
|
|
|
NM_000218.3(KCNQ1):c.168C>G (p.Pro56=)
|
rs2133559703
|
|
NM_000218.3(KCNQ1):c.1707G>A (p.Lys569=)
|
rs1288914203
|
|
NM_000218.3(KCNQ1):c.1710C>T (p.Pro570=)
|
rs1322520867
|
|
NM_000218.3(KCNQ1):c.1713A>G (p.Ser571=)
|
rs1846718527
|
|
NM_000218.3(KCNQ1):c.171C>A (p.Gly57=)
|
|
|
NM_000218.3(KCNQ1):c.1732+12T>C
|
|
|
NM_000218.3(KCNQ1):c.1732+15C>T
|
rs1846720431
|
|
NM_000218.3(KCNQ1):c.1732+7T>C
|
|
|
NM_000218.3(KCNQ1):c.1733-10T>A
|
|
|
NM_000218.3(KCNQ1):c.1733-9C>T
|
|
|
NM_000218.3(KCNQ1):c.1737G>A (p.Lys579=)
|
|
|
NM_000218.3(KCNQ1):c.174C>T (p.Ala58=)
|
|
|
NM_000218.3(KCNQ1):c.1770C>A (p.Ala590=)
|
rs1590082970
|
|
NM_000218.3(KCNQ1):c.1776G>A (p.Leu592=)
|
rs2133992330
|
|
NM_000218.3(KCNQ1):c.1794+10C>G
|
rs558507741
|
|
NM_000218.3(KCNQ1):c.1794+13G>A
|
|
|
NM_000218.3(KCNQ1):c.1794+17G>A
|
|
|
NM_000218.3(KCNQ1):c.1794+18C>T
|
|
|
NM_000218.3(KCNQ1):c.1795-14C>G
|
|
|
NM_000218.3(KCNQ1):c.1830C>G (p.Thr610=)
|
|
|
NM_000218.3(KCNQ1):c.1839T>A (p.Leu613=)
|
|
|
NM_000218.3(KCNQ1):c.1854C>T (p.Ser618=)
|
|
|
NM_000218.3(KCNQ1):c.1857G>A (p.Leu619=)
|
|
|
NM_000218.3(KCNQ1):c.186G>C (p.Ala62=)
|
|
|
NM_000218.3(KCNQ1):c.1872C>T (p.Thr624=)
|
|
|
NM_000218.3(KCNQ1):c.1875C>G (p.Pro625=)
|
rs112113213
|
|
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)
|
rs112113213
|
|
NM_000218.3(KCNQ1):c.1884C>G (p.Gly628=)
|
rs769848998
|
|
NM_000218.3(KCNQ1):c.1887C>T (p.Gly629=)
|
rs749068909
|
|
NM_000218.3(KCNQ1):c.1893C>A (p.Pro631=)
|
|
|
NM_000218.3(KCNQ1):c.1911C>T (p.His637=)
|
rs2134097230
|
|
NM_000218.3(KCNQ1):c.1923C>T (p.Pro641=)
|
|
|
NM_000218.3(KCNQ1):c.1938C>A (p.Gly646=)
|
rs184844767
|
|
NM_000218.3(KCNQ1):c.1956C>T (p.Leu652=)
|
|
|
NM_000218.3(KCNQ1):c.1960C>T (p.Leu654=)
|
rs1848368654
|
|
NM_000218.3(KCNQ1):c.1962G>C (p.Leu654=)
|
|
|
NM_000218.3(KCNQ1):c.1970A>G (p.Asn657Ser)
|
rs552087428
|
|
NM_000218.3(KCNQ1):c.1975C>T (p.Leu659=)
|
rs2134097500
|
|
NM_000218.3(KCNQ1):c.1977G>T (p.Leu659=)
|
rs2134097506
|
|
NM_000218.3(KCNQ1):c.1989G>A (p.Glu663=)
|
|
|
NM_000218.3(KCNQ1):c.1995G>T (p.Leu665=)
|
rs2134097569
|
|
NM_000218.3(KCNQ1):c.1998C>G (p.Thr666=)
|
rs775497150
|
|
NM_000218.3(KCNQ1):c.2022G>A (p.Glu674=)
|
|
|
NM_000218.3(KCNQ1):c.2030G>A (p.Ter677=)
|
|
|
NM_000218.3(KCNQ1):c.207G>A (p.Ala69=)
|
rs587781009
|
|
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=)
|
rs587781009
|
|
NM_000218.3(KCNQ1):c.210C>T (p.Pro70=)
|
|
|
NM_000218.3(KCNQ1):c.213C>A (p.Ala71=)
|
|
|
NM_000218.3(KCNQ1):c.21G>A (p.Pro7=)
|
|
|
NM_000218.3(KCNQ1):c.21G>C (p.Pro7=)
|
|
|
NM_000218.3(KCNQ1):c.225T>G (p.Val75=)
|
rs367817352
|
|
NM_000218.3(KCNQ1):c.228C>T (p.Ala76=)
|
|
|
NM_000218.3(KCNQ1):c.240C>T (p.Gly80=)
|
|
|
NM_000218.3(KCNQ1):c.249G>T (p.Pro83=)
|
rs760371519
|
|
NM_000218.3(KCNQ1):c.282C>T (p.Tyr94=)
|
rs750648908
|
|
NM_000218.3(KCNQ1):c.288G>T (p.Thr96=)
|
|
|
NM_000218.3(KCNQ1):c.294C>A (p.Arg98=)
|
|
|
NM_000218.3(KCNQ1):c.294C>T (p.Arg98=)
|
|
|
NM_000218.3(KCNQ1):c.306G>A (p.Ala102=)
|
rs761591068
|
|
NM_000218.3(KCNQ1):c.312C>T (p.Thr104=)
|
|
|
NM_000218.3(KCNQ1):c.339C>T (p.Phe113=)
|
rs1283105113
|
|
NM_000218.3(KCNQ1):c.348T>C (p.Arg116=)
|
rs1846023501
|
|
NM_000218.3(KCNQ1):c.354C>A (p.Thr118=)
|
|
|
NM_000218.3(KCNQ1):c.354C>T (p.Thr118=)
|
|
|
NM_000218.3(KCNQ1):c.36G>A (p.Arg12=)
|
|
|
NM_000218.3(KCNQ1):c.381C>T (p.Phe127=)
|
|
|
NM_000218.3(KCNQ1):c.386+13A>G
|
|
|
NM_000218.3(KCNQ1):c.386+15C>A
|
|
|
NM_000218.3(KCNQ1):c.386+18C>A
|
|
|
NM_000218.3(KCNQ1):c.386+19G>A
|
|
|
NM_000218.3(KCNQ1):c.386+8T>G
|
|
|
NM_000218.3(KCNQ1):c.387-12C>G
|
|
|
NM_000218.3(KCNQ1):c.387-15G>A
|
rs1023819811
|
|
NM_000218.3(KCNQ1):c.387-20G>C
|
|
|
NM_000218.3(KCNQ1):c.396C>T (p.Ile132=)
|
rs1400426641
|
|
NM_000218.3(KCNQ1):c.402G>C (p.Leu134=)
|
|
|
NM_000218.3(KCNQ1):c.408C>T (p.Cys136=)
|
rs1334675056
|
|
NM_000218.3(KCNQ1):c.426G>A (p.Leu142=)
|
|
|
NM_000218.3(KCNQ1):c.468C>T (p.Leu156=)
|
|
|
NM_000218.3(KCNQ1):c.477+16G>C
|
|
|
NM_000218.3(KCNQ1):c.478-12C>G
|
|
|
NM_000218.3(KCNQ1):c.478-19T>C
|
|
|
NM_000218.3(KCNQ1):c.478-8C>A
|
|
|
NM_000218.3(KCNQ1):c.483C>A (p.Ile161=)
|
rs146981549
|
|
NM_000218.3(KCNQ1):c.483C>T (p.Ile161=)
|
rs146981549
|
|
NM_000218.3(KCNQ1):c.492G>A (p.Val164=)
|
|
|
NM_000218.3(KCNQ1):c.495G>A (p.Val165=)
|
|
|
NM_000218.3(KCNQ1):c.531C>G (p.Ser177=)
|
rs757713526
|
|
NM_000218.3(KCNQ1):c.531C>T (p.Ser177=)
|
rs757713526
|
|
NM_000218.3(KCNQ1):c.534C>T (p.Ala178=)
|
rs1848319199
|
|
NM_000218.3(KCNQ1):c.567G>A (p.Gly189=)
|
|
|
NM_000218.3(KCNQ1):c.573G>A (p.Leu191=)
|
|
|
NM_000218.3(KCNQ1):c.588G>A (p.Lys196=)
|
|
|
NM_000218.3(KCNQ1):c.604+3_604+6dup
|
rs1848322064
|
|
NM_000218.3(KCNQ1):c.604+7C>T
|
|
|
NM_000218.3(KCNQ1):c.605-18C>A
|
rs192254843
|
|
NM_000218.3(KCNQ1):c.605-18C>G
|
rs192254843
|
|
NM_000218.3(KCNQ1):c.605-18C>T
|
|
|
NM_000218.3(KCNQ1):c.606C>T (p.Asp202=)
|
|
|
NM_000218.3(KCNQ1):c.609C>T (p.Leu203=)
|
rs1060503983
|
|
NM_000218.3(KCNQ1):c.615G>A (p.Val205=)
|
|
|
NM_000218.3(KCNQ1):c.624C>T (p.Ala208=)
|
rs1057524320
|
|
NM_000218.3(KCNQ1):c.636C>G (p.Val212=)
|
|
|
NM_000218.3(KCNQ1):c.636C>T (p.Val212=)
|
|
|
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=)
|
rs146350010
|
|
NM_000218.3(KCNQ1):c.657G>A (p.Gly219=)
|
|
|
NM_000218.3(KCNQ1):c.663G>A (p.Val221=)
|
rs779859587
|
|
NM_000218.3(KCNQ1):c.666T>C (p.Phe222=)
|
|
|
NM_000218.3(KCNQ1):c.669C>T (p.Ala223=)
|
rs371978875
|
|
NM_000218.3(KCNQ1):c.66C>A (p.Gly22=)
|
|
|
NM_000218.3(KCNQ1):c.675G>C (p.Ser225=)
|
rs148566141
|
|
NM_000218.3(KCNQ1):c.678C>T (p.Ala226=)
|
rs771489129
|
|
NM_000218.3(KCNQ1):c.683+10T>C
|
rs2133729063
|
|
NM_000218.3(KCNQ1):c.683+12C>A
|
|
|
NM_000218.3(KCNQ1):c.683+7C>G
|
rs2133729047
|
|
NM_000218.3(KCNQ1):c.684-4G>A
|
rs750965939
|
|
NM_000218.3(KCNQ1):c.684-4G>T
|
rs750965939
|
|
NM_000218.3(KCNQ1):c.723C>T (p.Val241=)
|
rs1358413257
|
|
NM_000218.3(KCNQ1):c.756C>T (p.Gly252=)
|
|
|
NM_000218.3(KCNQ1):c.774C>T (p.His258=)
|
rs1848345991
|
|
NM_000218.3(KCNQ1):c.780+11C>G
|
|
|
NM_000218.3(KCNQ1):c.780+13G>A
|
|
|
NM_000218.3(KCNQ1):c.780+15T>C
|
|
|
NM_000218.3(KCNQ1):c.781-19TG[2]
|
rs727503103
|
|
NM_000218.3(KCNQ1):c.831G>A (p.Ser277=)
|
rs761225039
|
|
NM_000218.3(KCNQ1):c.840G>T (p.Val280=)
|
rs1554893236
|
|
NM_000218.3(KCNQ1):c.855G>A (p.Lys285=)
|
rs776982883
|
|
NM_000218.3(KCNQ1):c.864G>A (p.Val288=)
|
|
|
NM_000218.3(KCNQ1):c.879C>A (p.Arg293=)
|
rs181106858
|
|
NM_000218.3(KCNQ1):c.879C>T (p.Arg293=)
|
rs181106858
|
|
NM_000218.3(KCNQ1):c.891C>A (p.Gly297=)
|
|
|
NM_000218.3(KCNQ1):c.906G>A (p.Ala302=)
|
rs200762150
|
|
NM_000218.3(KCNQ1):c.906G>T (p.Ala302=)
|
rs200762150
|
|
NM_000218.3(KCNQ1):c.918G>A (p.Gly306=)
|
|
|
NM_000218.3(KCNQ1):c.921+12A>G
|
rs1848365236
|
|
NM_000218.3(KCNQ1):c.921+15T>C
|
|
|
NM_000218.3(KCNQ1):c.921+8G>A
|
|
|
NM_000218.3(KCNQ1):c.921+8_921+15dup
|
|
|
NM_000218.3(KCNQ1):c.922-12C>T
|
|
|
NM_000218.3(KCNQ1):c.922-20C>T
|
|
|
NM_000218.3(KCNQ1):c.922-7C>T
|
|
|
NM_000218.3(KCNQ1):c.936C>T (p.Thr312=)
|
rs753939458
|
|
NM_000218.3(KCNQ1):c.948G>A (p.Gly316=)
|
rs727505231
|
|
NM_000218.3(KCNQ1):c.954G>A (p.Lys318=)
|
|
|
NM_000218.3(KCNQ1):c.972C>G (p.Val324=)
|
|
|
NM_000218.3(KCNQ1):c.975G>A (p.Gly325=)
|
rs2133750801
|
|
NM_000218.3(KCNQ1):c.987C>T (p.Ala329=)
|
|
|
NM_000218.3(KCNQ1):c.996C>T (p.Phe332=)
|
rs1554894464
|
|
NM_000218.3(KCNQ1):c.99G>A (p.Lys33=)
|
|
|
NM_000219.6(KCNE1):c.111_112inv (p.Ser38Gly)
|
|
|
NM_000219.6(KCNE1):c.120C>T (p.Gly40=)
|
rs756778741
|
|
NM_000219.6(KCNE1):c.124C>T (p.Leu42=)
|
|
|
NM_000219.6(KCNE1):c.175C>T (p.Leu59=)
|
rs754731040
|
|
NM_000219.6(KCNE1):c.183C>T (p.Ile61=)
|
rs2123458313
|
|
NM_000219.6(KCNE1):c.189G>T (p.Leu63=)
|
rs1057521237
|
|
NM_000219.6(KCNE1):c.207G>A (p.Lys69=)
|
|
|
NM_000219.6(KCNE1):c.216G>A (p.Glu72=)
|
|
|
NM_000219.6(KCNE1):c.219C>T (p.His73=)
|
|
|
NM_000219.6(KCNE1):c.288G>A (p.Gln96=)
|
|
|
NM_000219.6(KCNE1):c.292C>A (p.Arg98=)
|
rs199473362
|
|
NM_000219.6(KCNE1):c.294G>T (p.Arg98=)
|
|
|
NM_000219.6(KCNE1):c.315G>C (p.Ser105=)
|
|
|
NM_000219.6(KCNE1):c.327T>G (p.Val109=)
|
rs1601042810
|
|
NM_000219.6(KCNE1):c.339G>A (p.Leu113=)
|
|
|
NM_000219.6(KCNE1):c.384C>A (p.Ser128=)
|
|
|
NM_000219.6(KCNE1):c.39G>C (p.Leu13=)
|
rs976122175
|
|
NM_000219.6(KCNE1):c.60A>G (p.Thr20=)
|
rs2123459519
|
|
NM_000219.6(KCNE1):c.72T>C (p.Gly24=)
|
|
|
NM_000219.6(KCNE1):c.75C>A (p.Gly25=)
|
rs753064398
|
|
NM_000238.4(KCNH2):c.1017C>T (p.Asn339=)
|
rs1801410026
|
|
NM_000238.4(KCNH2):c.1041C>G (p.Pro347=)
|
rs545444296
|
|
NM_000238.4(KCNH2):c.1041C>T (p.Pro347=)
|
|
|
NM_000238.4(KCNH2):c.1053G>A (p.Ser351=)
|
rs766203252
|
|
NM_000238.4(KCNH2):c.1056C>T (p.Pro352=)
|
rs1554427342
|
|
NM_000238.4(KCNH2):c.1089A>T (p.Ile363=)
|
|
|
NM_000238.4(KCNH2):c.1092G>A (p.Lys364=)
|
rs2116997432
|
|
NM_000238.4(KCNH2):c.1110C>A (p.Val370=)
|
rs1460270324
|
|
NM_000238.4(KCNH2):c.111G>A (p.Glu37=)
|
rs1584883463
|
|
NM_000238.4(KCNH2):c.1122C>T (p.Val374=)
|
|
|
NM_000238.4(KCNH2):c.1128+10C>G
|
rs2116997072
|
|
NM_000238.4(KCNH2):c.1128+11A>G
|
|
|
NM_000238.4(KCNH2):c.1128+13C>A
|
|
|
NM_000238.4(KCNH2):c.1128+13C>G
|
|
|
NM_000238.4(KCNH2):c.1128+17C>G
|
|
|
NM_000238.4(KCNH2):c.1128+17C>T
|
|
|
NM_000238.4(KCNH2):c.1128+1822G>T
|
rs781494018
|
|
NM_000238.4(KCNH2):c.1128+1826T>C
|
rs2116987080
|
|
NM_000238.4(KCNH2):c.1128+1851C>T
|
rs1584860856
|
|
NM_000238.4(KCNH2):c.1128+1871C>T
|
rs1554426874
|
|
NM_000238.4(KCNH2):c.1128+1883C>G
|
rs199698029
|
|
NM_000238.4(KCNH2):c.1128+1883C>T
|
rs199698029
|
|
NM_000238.4(KCNH2):c.1128+1888C>T
|
rs1031478932
|
|
NM_000238.4(KCNH2):c.1131C>T (p.Val377=)
|
rs1251473864
|
|
NM_000238.4(KCNH2):c.1146C>G (p.Ala382=)
|
rs202147325
|
|
NM_000238.4(KCNH2):c.1155G>A (p.Leu385=)
|
|
|
NM_000238.4(KCNH2):c.1161G>A (p.Glu387=)
|
|
|
NM_000238.4(KCNH2):c.1167G>A (p.Lys389=)
|
rs2116973050
|
|
NM_000238.4(KCNH2):c.1182C>T (p.Arg394=)
|
rs2116972917
|
|
NM_000238.4(KCNH2):c.1188C>T (p.His396=)
|
rs2116972876
|
|
NM_000238.4(KCNH2):c.1191C>A (p.Arg397=)
|
rs1362497464
|
|
NM_000238.4(KCNH2):c.1203G>A (p.Leu401=)
|
rs2116972683
|
|
NM_000238.4(KCNH2):c.1215C>G (p.Pro405=)
|
rs2116972585
|
|
NM_000238.4(KCNH2):c.1227G>C (p.Val409=)
|
|
|
NM_000238.4(KCNH2):c.1242C>T (p.Ile414=)
|
rs766849710
|
|
NM_000238.4(KCNH2):c.1243C>T (p.Leu415=)
|
rs1286044647
|
|
NM_000238.4(KCNH2):c.1245G>C (p.Leu415=)
|
rs1411817701
|
|
NM_000238.4(KCNH2):c.1251G>A (p.Leu417=)
|
rs1345291709
|
|
NM_000238.4(KCNH2):c.1251G>C (p.Leu417=)
|
rs1345291709
|
|
NM_000238.4(KCNH2):c.126C>T (p.Ile42=)
|
|
|
NM_000238.4(KCNH2):c.1278C>G (p.Pro426=)
|
|
|
NM_000238.4(KCNH2):c.1287T>C (p.Ala429=)
|
|
|
NM_000238.4(KCNH2):c.1294C>T (p.Leu432=)
|
|
|
NM_000238.4(KCNH2):c.1308G>A (p.Thr436=)
|
rs527911312
|
|
NM_000238.4(KCNH2):c.1311A>G (p.Glu437=)
|
rs2116971640
|
|
NM_000238.4(KCNH2):c.1320G>A (p.Pro440=)
|
rs144926928
|
|
NM_000238.4(KCNH2):c.1329C>G (p.Thr443=)
|
|
|
NM_000238.4(KCNH2):c.1342G>T (p.Ala448Ser)
|
rs767723985
|
|
NM_000238.4(KCNH2):c.1368C>T (p.Asp456=)
|
rs1292657488
|
|
NM_000238.4(KCNH2):c.1371C>G (p.Leu457=)
|
rs2116970938
|
|
NM_000238.4(KCNH2):c.1383C>A (p.Ile461=)
|
rs1017150984
|
|
NM_000238.4(KCNH2):c.13A>C (p.Arg5=)
|
|
|
NM_000238.4(KCNH2):c.1401C>T (p.Ile467=)
|
rs1584856486
|
|
NM_000238.4(KCNH2):c.1416C>T (p.Arg472=)
|
rs770899326
|
|
NM_000238.4(KCNH2):c.1419C>A (p.Thr473=)
|
rs1057522546
|
|
NM_000238.4(KCNH2):c.141C>T (p.Gly47=)
|
|
|
NM_000238.4(KCNH2):c.1446G>A (p.Val482=)
|
|
|
NM_000238.4(KCNH2):c.1455C>T (p.His485=)
|
|
|
NM_000238.4(KCNH2):c.1467C>A (p.Ile489=)
|
rs740952
|
|
NM_000238.4(KCNH2):c.1479C>T (p.Tyr493=)
|
rs878853771
|
|
NM_000238.4(KCNH2):c.147C>T (p.Cys49=)
|
rs794728410
|
|
NM_000238.4(KCNH2):c.1482C>T (p.Phe494=)
|
rs2116969628
|
|
NM_000238.4(KCNH2):c.1500C>T (p.Ile500=)
|
rs147126965
|
|
NM_000238.4(KCNH2):c.1509G>A (p.Val503=)
|
rs967889413
|
|
NM_000238.4(KCNH2):c.1512C>G (p.Ala504=)
|
rs41311003
|
|
NM_000238.4(KCNH2):c.1518C>A (p.Ile506=)
|
rs1418058264
|
|
NM_000238.4(KCNH2):c.1533C>T (p.Leu511=)
|
rs1489383422
|
|
NM_000238.4(KCNH2):c.1557+13A>G
|
|
|
NM_000238.4(KCNH2):c.1557+17G>A
|
|
|
NM_000238.4(KCNH2):c.1557+18G>A
|
|
|
NM_000238.4(KCNH2):c.1557+8C>T
|
rs2116968729
|
|
NM_000238.4(KCNH2):c.1558-11C>A
|
|
|
NM_000238.4(KCNH2):c.1558-13C>T
|
|
|
NM_000238.4(KCNH2):c.1558-17C>T
|
|
|
NM_000238.4(KCNH2):c.1558-4C>T
|
rs1801185176
|
|
NM_000238.4(KCNH2):c.1558-7C>T
|
|
|
NM_000238.4(KCNH2):c.1566G>C (p.Gly522=)
|
rs1801184437
|
|
NM_000238.4(KCNH2):c.1569G>A (p.Leu523=)
|
rs2116964732
|
|
NM_000238.4(KCNH2):c.1570C>T (p.Leu524=)
|
|
|
NM_000238.4(KCNH2):c.1578T>C (p.Thr526=)
|
|
|
NM_000238.4(KCNH2):c.1582C>A (p.Arg528=)
|
rs864622403
|
|
NM_000238.4(KCNH2):c.1596G>C (p.Leu532=)
|
rs2116964399
|
|
NM_000238.4(KCNH2):c.159C>G (p.Gly53=)
|
|
|
NM_000238.4(KCNH2):c.1605G>T (p.Val535=)
|
|
|
NM_000238.4(KCNH2):c.1608G>C (p.Ala536=)
|
rs144925439
|
|
NM_000238.4(KCNH2):c.1611G>A (p.Arg537=)
|
rs756962248
|
|
NM_000238.4(KCNH2):c.1611G>T (p.Arg537=)
|
rs756962248
|
|
NM_000238.4(KCNH2):c.1629A>C (p.Ser543=)
|
rs762579233
|
|
NM_000238.4(KCNH2):c.1632G>A (p.Glu544=)
|
rs752253750
|
|
NM_000238.4(KCNH2):c.1638C>T (p.Gly546=)
|
rs759245832
|
|
NM_000238.4(KCNH2):c.1641G>C (p.Ala547=)
|
rs149902084
|
|
NM_000238.4(KCNH2):c.1650G>A (p.Leu550=)
|
rs1801178785
|
|
NM_000238.4(KCNH2):c.1650G>T (p.Leu550=)
|
|
|
NM_000238.4(KCNH2):c.165G>C (p.Ser55=)
|
rs1801937336
|
|
NM_000238.4(KCNH2):c.166C>A (p.Arg56=)
|
rs1801937245
|
|
NM_000238.4(KCNH2):c.1674G>A (p.Ala558=)
|
rs554855472
|
|
NM_000238.4(KCNH2):c.1674G>C (p.Ala558=)
|
rs554855472
|
|
NM_000238.4(KCNH2):c.1674G>T (p.Ala558=)
|
rs554855472
|
|
NM_000238.4(KCNH2):c.1680C>T (p.Ile560=)
|
rs372725107
|
|
NM_000238.4(KCNH2):c.1683G>C (p.Ala561=)
|
|
|
NM_000238.4(KCNH2):c.1719C>T (p.Asn573=)
|
|
|
NM_000238.4(KCNH2):c.171C>T (p.Ala57=)
|
|
|
NM_000238.4(KCNH2):c.1770C>A (p.Gly590=)
|
|
|
NM_000238.4(KCNH2):c.1788C>G (p.Pro596=)
|
rs1801166919
|
|
NM_000238.4(KCNH2):c.1806G>A (p.Leu602=)
|
|
|
NM_000238.4(KCNH2):c.1812C>T (p.Gly604=)
|
rs1801165070
|
|
NM_000238.4(KCNH2):c.1824G>A (p.Lys608=)
|
rs1413887234
|
|
NM_000238.4(KCNH2):c.1833T>C (p.Tyr611=)
|
rs2116960512
|
|
NM_000238.4(KCNH2):c.1836G>A (p.Val612=)
|
rs1554425781
|
|
NM_000238.4(KCNH2):c.1836G>T (p.Val612=)
|
rs1554425781
|
|
NM_000238.4(KCNH2):c.1842G>C (p.Ala614=)
|
|
|
NM_000238.4(KCNH2):c.1842G>T (p.Ala614=)
|
|
|
NM_000238.4(KCNH2):c.184C>A (p.Arg62=)
|
rs1218798860
|
|
NM_000238.4(KCNH2):c.1854C>T (p.Thr618=)
|
rs1801161429
|
|
NM_000238.4(KCNH2):c.1872T>C (p.Ser624=)
|
|
|
NM_000238.4(KCNH2):c.1890C>G (p.Val630=)
|
|
|
NM_000238.4(KCNH2):c.1893T>G (p.Ser631=)
|
rs1554425717
|
|
NM_000238.4(KCNH2):c.189C>T (p.Pro63=)
|
rs760274672
|
|
NM_000238.4(KCNH2):c.18C>A (p.Gly6=)
|
|
|
NM_000238.4(KCNH2):c.1902C>A (p.Thr634=)
|
|
|
NM_000238.4(KCNH2):c.1908A>G (p.Ser636=)
|
rs753387993
|
|
NM_000238.4(KCNH2):c.1938C>T (p.Leu646=)
|
|
|
NM_000238.4(KCNH2):c.1945+10C>G
|
|
|
NM_000238.4(KCNH2):c.1945+13del
|
|
|
NM_000238.4(KCNH2):c.1945+19G>A
|
|
|
NM_000238.4(KCNH2):c.1945+20G>A
|
rs1057523089
|
|
NM_000238.4(KCNH2):c.1945+20G>T
|
rs1057523089
|
|
NM_000238.4(KCNH2):c.1946-17_1946-2dup
|
rs1554425573
|
|
NM_000238.4(KCNH2):c.1946-5C>T
|
|
|
NM_000238.4(KCNH2):c.1947C>T (p.Ser649=)
|
|
|
NM_000238.4(KCNH2):c.1965C>A (p.Ile655=)
|
rs774672362
|
|
NM_000238.4(KCNH2):c.1998G>T (p.Leu666=)
|
|
|
NM_000238.4(KCNH2):c.2013C>T (p.Ala671=)
|
rs2116955668
|
|
NM_000238.4(KCNH2):c.2022C>T (p.His674=)
|
rs2116955585
|
|
NM_000238.4(KCNH2):c.2037G>A (p.Arg679=)
|
rs1554425500
|
|
NM_000238.4(KCNH2):c.2079G>A (p.Leu693=)
|
|
|
NM_000238.4(KCNH2):c.2085G>A (p.Gln695=)
|
|
|
NM_000238.4(KCNH2):c.2097G>A (p.Glu699=)
|
rs550680502
|
|
NM_000238.4(KCNH2):c.2124C>G (p.Thr708=)
|
|
|
NM_000238.4(KCNH2):c.2145+10C>G
|
rs746696683
|
|
NM_000238.4(KCNH2):c.2145+11C>G
|
|
|
NM_000238.4(KCNH2):c.2145+15_2145+16delinsTT
|
rs2116953868
|
|
NM_000238.4(KCNH2):c.2146-14C>G
|
rs971275958
|
|
NM_000238.4(KCNH2):c.2146-17C>T
|
|
|
NM_000238.4(KCNH2):c.2146-8G>A
|
|
|
NM_000238.4(KCNH2):c.2146-9T>C
|
|
|
NM_000238.4(KCNH2):c.2157C>T (p.Gly719=)
|
rs748506070
|
|
NM_000238.4(KCNH2):c.219C>A (p.Arg73=)
|
rs761494105
|
|
NM_000238.4(KCNH2):c.21C>T (p.His7=)
|
|
|
NM_000238.4(KCNH2):c.2206C>T (p.Leu736=)
|
rs1554425294
|
|
NM_000238.4(KCNH2):c.222G>C (p.Thr74=)
|
|
|
NM_000238.4(KCNH2):c.2244G>A (p.Lys748=)
|
|
|
NM_000238.4(KCNH2):c.2250C>T (p.Cys750=)
|
rs2116950050
|
|
NM_000238.4(KCNH2):c.2253T>A (p.Leu751=)
|
rs1436763090
|
|
NM_000238.4(KCNH2):c.2256G>C (p.Arg752=)
|
|
|
NM_000238.4(KCNH2):c.225G>A (p.Gln75=)
|
|
|
NM_000238.4(KCNH2):c.2292G>T (p.Pro764=)
|
rs766291953
|
|
NM_000238.4(KCNH2):c.2298G>A (p.Gly766=)
|
|
|
NM_000238.4(KCNH2):c.2304A>G (p.Thr768=)
|
rs2116949473
|
|
NM_000238.4(KCNH2):c.2310G>A (p.Val770=)
|
rs1584850538
|
|
NM_000238.4(KCNH2):c.2313T>C (p.His771=)
|
rs2116949373
|
|
NM_000238.4(KCNH2):c.2328C>T (p.Leu776=)
|
|
|
NM_000238.4(KCNH2):c.2343C>T (p.Phe781=)
|
rs886039215
|
|
NM_000238.4(KCNH2):c.2351G>A (p.Arg784Gln)
|
|
|
NM_000238.4(KCNH2):c.237C>G (p.Ala79=)
|
rs1060503994
|
|
NM_000238.4(KCNH2):c.2382C>A (p.Val794=)
|
|
|
NM_000238.4(KCNH2):c.2398+15G>A
|
|
|
NM_000238.4(KCNH2):c.2399-11A>G
|
rs572515767
|
|
NM_000238.4(KCNH2):c.2399-15C>G
|
rs1246466836
|
|
NM_000238.4(KCNH2):c.2399-15C>T
|
|
|
NM_000238.4(KCNH2):c.2399-6C>T
|
|
|
NM_000238.4(KCNH2):c.2399-8G>A
|
rs2116941591
|
|
NM_000238.4(KCNH2):c.240G>A (p.Ala80=)
|
rs1554430915
|
|
NM_000238.4(KCNH2):c.240G>T (p.Ala80=)
|
rs1554430915
|
|
NM_000238.4(KCNH2):c.2425C>T (p.Leu809=)
|
rs761112618
|
|
NM_000238.4(KCNH2):c.2430C>T (p.Asn810=)
|
|
|
NM_000238.4(KCNH2):c.2433G>A (p.Leu811=)
|
rs1801032409
|
|
NM_000238.4(KCNH2):c.243G>A (p.Gln81=)
|
rs199472849
|
|
NM_000238.4(KCNH2):c.2448C>G (p.Gly816=)
|
rs41311000
|
|
NM_000238.4(KCNH2):c.2454G>C (p.Ser818=)
|
rs72549418
|
|
NM_000238.4(KCNH2):c.2463T>C (p.Asp821=)
|
rs1460365886
|
|
NM_000238.4(KCNH2):c.246C>T (p.Ile82=)
|
rs974990528
|
|
NM_000238.4(KCNH2):c.2472C>T (p.Ala824=)
|
|
|
NM_000238.4(KCNH2):c.2478C>T (p.Thr826=)
|
rs757036802
|
|
NM_000238.4(KCNH2):c.2508C>T (p.Asp836=)
|
rs139295242
|
|
NM_000238.4(KCNH2):c.2517G>A (p.Leu839=)
|
|
|
NM_000238.4(KCNH2):c.252G>A (p.Gln84=)
|
rs770232755
|
|
NM_000238.4(KCNH2):c.2535C>T (p.Tyr845=)
|
rs111531831
|
|
NM_000238.4(KCNH2):c.2547C>G (p.Ser849=)
|
|
|
NM_000238.4(KCNH2):c.255A>C (p.Ala85=)
|
|
|
NM_000238.4(KCNH2):c.2562C>T (p.Ser854=)
|
rs897540177
|
|
NM_000238.4(KCNH2):c.2574C>T (p.Ile858=)
|
|
|
NM_000238.4(KCNH2):c.2577C>A (p.Thr859=)
|
rs1060503993
|
|
NM_000238.4(KCNH2):c.2577C>T (p.Thr859=)
|
|
|
NM_000238.4(KCNH2):c.2584C>T (p.Leu862=)
|
rs1554424783
|
|
NM_000238.4(KCNH2):c.2589A>G (p.Arg863=)
|
rs1036535206
|
|
NM_000238.4(KCNH2):c.258G>C (p.Leu86=)
|
rs1801931669
|
|
NM_000238.4(KCNH2):c.258G>T (p.Leu86=)
|
rs1801931669
|
|
NM_000238.4(KCNH2):c.2592+16T>A
|
|
|
NM_000238.4(KCNH2):c.2592+17G>A
|
|
|
NM_000238.4(KCNH2):c.2592+8G>A
|
|
|
NM_000238.4(KCNH2):c.2592+9G>A
|
|
|
NM_000238.4(KCNH2):c.2593-17A>G
|
|
|
NM_000238.4(KCNH2):c.2593-17_2593-16insAA
|
|
|
NM_000238.4(KCNH2):c.2593-7G>A
|
rs1217547849
|
|
NM_000238.4(KCNH2):c.2607G>T (p.Pro869=)
|
rs199828796
|
|
NM_000238.4(KCNH2):c.2610C>G (p.Gly870=)
|
rs2116938469
|
|
NM_000238.4(KCNH2):c.2628G>A (p.Glu876=)
|
|
|
NM_000238.4(KCNH2):c.2631A>G (p.Leu877=)
|
rs1182206044
|
|
NM_000238.4(KCNH2):c.2634G>A (p.Glu878=)
|
rs1463041004
|
|
NM_000238.4(KCNH2):c.2647C>A (p.Arg883=)
|
rs201765446
|
|
NM_000238.4(KCNH2):c.2661C>A (p.Arg887=)
|
|
|
NM_000238.4(KCNH2):c.2670C>G (p.Ser890=)
|
|
|
NM_000238.4(KCNH2):c.2677A>C (p.Arg893=)
|
|
|
NM_000238.4(KCNH2):c.2679G>A (p.Arg893=)
|
rs1584846932
|
|
NM_000238.4(KCNH2):c.267C>G (p.Ala89=)
|
rs771100245
|
|
NM_000238.4(KCNH2):c.267C>T (p.Ala89=)
|
|
|
NM_000238.4(KCNH2):c.2690_2691delinsCA (p.Lys897Thr)
|
|
|
NM_000238.4(KCNH2):c.2690_2691delinsCC (p.Lys897Thr)
|
|
|
NM_000238.4(KCNH2):c.2692+12G>T
|
|
|
NM_000238.4(KCNH2):c.2692+18A>G
|
rs964660781
|
|
NM_000238.4(KCNH2):c.2692+20G>T
|
|
|
NM_000238.4(KCNH2):c.2692+21_2692+47del
|
|
|
NM_000238.4(KCNH2):c.2692+7C>G
|
rs372023163
|
|
NM_000238.4(KCNH2):c.2692+8G>A
|
rs200032281
|
|
NM_000238.4(KCNH2):c.2692+8G>C
|
rs200032281
|
|
NM_000238.4(KCNH2):c.2692+9G>A
|
|
|
NM_000238.4(KCNH2):c.2693-4A>C
|
rs1800976590
|
|
NM_000238.4(KCNH2):c.2697G>A (p.Thr899=)
|
rs1171773594
|
|
NM_000238.4(KCNH2):c.270G>A (p.Glu90=)
|
rs2117062411
|
|
NM_000238.4(KCNH2):c.2718G>A (p.Ser906=)
|
|
|
NM_000238.4(KCNH2):c.2721C>T (p.Ala907=)
|
rs1800974519
|
|
NM_000238.4(KCNH2):c.2730G>C (p.Pro910=)
|
|
|
NM_000238.4(KCNH2):c.2748G>A (p.Gly916=)
|
|
|
NM_000238.4(KCNH2):c.2757C>T (p.Ser919=)
|
rs2116933746
|
|
NM_000238.4(KCNH2):c.2760G>C (p.Arg920=)
|
rs1800971378
|
|
NM_000238.4(KCNH2):c.2769G>C (p.Pro923=)
|
rs557789224
|
|
NM_000238.4(KCNH2):c.2769G>T (p.Pro923=)
|
rs557789224
|
|
NM_000238.4(KCNH2):c.2778G>T (p.Pro926=)
|
rs898987242
|
|
NM_000238.4(KCNH2):c.278A>G (p.Lys93Arg)
|
rs780197027
|
|
NM_000238.4(KCNH2):c.2796C>T (p.Ser932=)
|
|
|
NM_000238.4(KCNH2):c.279A>G (p.Lys93=)
|
rs2117062320
|
|
NM_000238.4(KCNH2):c.27G>A (p.Ala9=)
|
|
|
NM_000238.4(KCNH2):c.27G>C (p.Ala9=)
|
rs863224336
|
|
NM_000238.4(KCNH2):c.2802C>G (p.Gly934=)
|
rs780308005
|
|
NM_000238.4(KCNH2):c.2808C>T (p.Ser936=)
|
rs1057520290
|
|
NM_000238.4(KCNH2):c.2811C>T (p.Ser937=)
|
|
|
NM_000238.4(KCNH2):c.2850C>T (p.Ser950=)
|
rs2116932647
|
|
NM_000238.4(KCNH2):c.2868G>A (p.Val956=)
|
|
|
NM_000238.4(KCNH2):c.2880C>T (p.Ser960=)
|
rs2116932430
|
|
NM_000238.4(KCNH2):c.2889C>G (p.Pro963=)
|
rs749814759
|
|
NM_000238.4(KCNH2):c.288C>A (p.Ile96=)
|
rs2117062260
|
|
NM_000238.4(KCNH2):c.288C>T (p.Ile96=)
|
rs2117062260
|
|
NM_000238.4(KCNH2):c.2892C>G (p.Pro964=)
|
rs769972412
|
|
NM_000238.4(KCNH2):c.2901G>C (p.Pro967=)
|
|
|
NM_000238.4(KCNH2):c.2901G>T (p.Pro967=)
|
rs780481239
|
|
NM_000238.4(KCNH2):c.2910G>A (p.Gly970=)
|
rs2116932035
|
|
NM_000238.4(KCNH2):c.2913G>A (p.Glu971=)
|
|
|
NM_000238.4(KCNH2):c.2916C>T (p.Pro972=)
|
rs1800959026
|
|
NM_000238.4(KCNH2):c.2919G>T (p.Leu973=)
|
rs2116931940
|
|
NM_000238.4(KCNH2):c.2925G>A (p.Glu975=)
|
rs1452843656
|
|
NM_000238.4(KCNH2):c.2934G>A (p.Glu978=)
|
rs2116931812
|
|
NM_000238.4(KCNH2):c.2937G>A (p.Lys979=)
|
rs2116931783
|
|
NM_000238.4(KCNH2):c.2952C>T (p.Cys984=)
|
|
|
NM_000238.4(KCNH2):c.2955C>T (p.Asn985=)
|
rs1584844286
|
|
NM_000238.4(KCNH2):c.2958C>T (p.Pro986=)
|
rs2116931525
|
|
NM_000238.4(KCNH2):c.2959C>T (p.Leu987=)
|
rs1800955984
|
|
NM_000238.4(KCNH2):c.2965+10G>A
|
rs1419050750
|
|
NM_000238.4(KCNH2):c.2965+11C>A
|
|
|
NM_000238.4(KCNH2):c.2965+11_2965+12insAGG
|
rs1360166698
|
|
NM_000238.4(KCNH2):c.2965+13A>G
|
rs1434583260
|
|
NM_000238.4(KCNH2):c.2965+13_2965+17dup
|
|
|
NM_000238.4(KCNH2):c.2965+14_2965+24del
|
|
|
NM_000238.4(KCNH2):c.2965+15G>A
|
rs750330550
|
|
NM_000238.4(KCNH2):c.2965+15G>T
|
|
|
NM_000238.4(KCNH2):c.2965+19G>A
|
|
|
NM_000238.4(KCNH2):c.2965+8G>T
|
rs749079285
|
|
NM_000238.4(KCNH2):c.2966-20G>A
|
|
|
NM_000238.4(KCNH2):c.2966-4G>A
|
rs1252745863
|
|
NM_000238.4(KCNH2):c.2966-5T>C
|
rs2116930650
|
|
NM_000238.4(KCNH2):c.2967C>A (p.Gly989=)
|
rs759887868
|
|
NM_000238.4(KCNH2):c.2976A>G (p.Ser992=)
|
rs2116930515
|
|
NM_000238.4(KCNH2):c.2979A>C (p.Gly993=)
|
rs2116930477
|
|
NM_000238.4(KCNH2):c.300G>A (p.Arg100=)
|
|
|
NM_000238.4(KCNH2):c.3018C>T (p.Gly1006=)
|
|
|
NM_000238.4(KCNH2):c.3024G>A (p.Gln1008=)
|
|
|
NM_000238.4(KCNH2):c.3045C>T (p.Cys1015=)
|
rs1800944753
|
|
NM_000238.4(KCNH2):c.3051C>A (p.Ala1017=)
|
rs75488587
|
|
NM_000238.4(KCNH2):c.3051C>T (p.Ala1017=)
|
rs75488587
|
|
NM_000238.4(KCNH2):c.3054C>A (p.Pro1018=)
|
rs1452266394
|
|
NM_000238.4(KCNH2):c.3057C>T (p.Thr1019=)
|
rs41307277
|
|
NM_000238.4(KCNH2):c.307+10G>A
|
|
|
NM_000238.4(KCNH2):c.307+13C>G
|
|
|
NM_000238.4(KCNH2):c.307+13C>T
|
|
|
NM_000238.4(KCNH2):c.307+7G>T
|
|
|
NM_000238.4(KCNH2):c.308-10C>T
|
rs2117012699
|
|
NM_000238.4(KCNH2):c.308-15C>T
|
|
|
NM_000238.4(KCNH2):c.308-18T>C
|
|
|
NM_000238.4(KCNH2):c.308-19A>G
|
|
|
NM_000238.4(KCNH2):c.308-377T>A
|
rs12668582
|
|
NM_000238.4(KCNH2):c.308-378_308-377delinsTG
|
|
|
NM_000238.4(KCNH2):c.3090G>C (p.Pro1030=)
|
rs778604642
|
|
NM_000238.4(KCNH2):c.3094C>A (p.Arg1032=)
|
rs373394254
|
|
NM_000238.4(KCNH2):c.3096G>T (p.Arg1032=)
|
|
|
NM_000238.4(KCNH2):c.3097C>A (p.Arg1033=)
|
rs199473021
|
|
NM_000238.4(KCNH2):c.3099G>C (p.Arg1033=)
|
rs912722561
|
|
NM_000238.4(KCNH2):c.30G>C (p.Pro10=)
|
|
|
NM_000238.4(KCNH2):c.3105G>A (p.Arg1035=)
|
|
|
NM_000238.4(KCNH2):c.3126G>A (p.Leu1042=)
|
|
|
NM_000238.4(KCNH2):c.3129T>C (p.Asp1043=)
|
rs2116928259
|
|
NM_000238.4(KCNH2):c.3132C>T (p.Ala1044=)
|
|
|
NM_000238.4(KCNH2):c.3152+10T>C
|
rs1427022039
|
|
NM_000238.4(KCNH2):c.3152+11G>A
|
rs1451056969
|
|
NM_000238.4(KCNH2):c.3152+20G>T
|
rs2116927915
|
|
NM_000238.4(KCNH2):c.3153-14A>G
|
|
|
NM_000238.4(KCNH2):c.3153-15C>A
|
|
|
NM_000238.4(KCNH2):c.3153-16C>G
|
rs779662956
|
|
NM_000238.4(KCNH2):c.3153-18C>A
|
|
|
NM_000238.4(KCNH2):c.3153-4C>G
|
|
|
NM_000238.4(KCNH2):c.3153-5C>T
|
|
|
NM_000238.4(KCNH2):c.3153-9C>T
|
rs1057520425
|
|
NM_000238.4(KCNH2):c.315C>T (p.Cys105=)
|
rs772377097
|
|
NM_000238.4(KCNH2):c.3162C>T (p.Thr1054=)
|
|
|
NM_000238.4(KCNH2):c.3163C>A (p.Arg1055=)
|
|
|
NM_000238.4(KCNH2):c.3186T>C (p.Thr1062=)
|
rs774112063
|
|
NM_000238.4(KCNH2):c.3196C>T (p.Leu1066=)
|
|
|
NM_000238.4(KCNH2):c.3207G>A (p.Arg1069=)
|
|
|
NM_000238.4(KCNH2):c.3219G>A (p.Leu1073=)
|
|
|
NM_000238.4(KCNH2):c.3222C>T (p.Val1074=)
|
rs2116925925
|
|
NM_000238.4(KCNH2):c.3228C>A (p.Pro1076=)
|
|
|
NM_000238.4(KCNH2):c.3246C>A (p.Thr1082=)
|
rs2116925686
|
|
NM_000238.4(KCNH2):c.3255G>A (p.Gly1085=)
|
rs1005325992
|
|
NM_000238.4(KCNH2):c.3255G>C (p.Gly1085=)
|
|
|
NM_000238.4(KCNH2):c.3258T>G (p.Pro1086=)
|
|
|
NM_000238.4(KCNH2):c.3261C>T (p.Gly1087=)
|
rs1584841732
|
|
NM_000238.4(KCNH2):c.3264C>A (p.Pro1088=)
|
|
|
NM_000238.4(KCNH2):c.3264C>G (p.Pro1088=)
|
rs1554423761
|
|
NM_000238.4(KCNH2):c.3279G>A (p.Pro1093=)
|
rs202198564
|
|
NM_000238.4(KCNH2):c.3280C>T (p.Leu1094=)
|
|
|
NM_000238.4(KCNH2):c.3282G>C (p.Leu1094=)
|
rs2116925281
|
|
NM_000238.4(KCNH2):c.3291C>A (p.Val1097=)
|
|
|
NM_000238.4(KCNH2):c.3312C>T (p.Thr1104=)
|
|
|
NM_000238.4(KCNH2):c.3321G>C (p.Ser1107=)
|
rs189457419
|
|
NM_000238.4(KCNH2):c.3330+10A>G
|
|
|
NM_000238.4(KCNH2):c.3330+11G>C
|
|
|
NM_000238.4(KCNH2):c.3330+12C>T
|
|
|
NM_000238.4(KCNH2):c.3330+15T>G
|
|
|
NM_000238.4(KCNH2):c.3330+17C>T
|
|
|
NM_000238.4(KCNH2):c.3330+8C>T
|
|
|
NM_000238.4(KCNH2):c.3331-15_3331-14del
|
|
|
NM_000238.4(KCNH2):c.3331-18G>T
|
|
|
NM_000238.4(KCNH2):c.3331-9G>A
|
rs754582515
|
|
NM_000238.4(KCNH2):c.3333T>C (p.Val1111=)
|
rs2116918156
|
|
NM_000238.4(KCNH2):c.3348G>T (p.Ala1116=)
|
|
|
NM_000238.4(KCNH2):c.3351T>C (p.Cys1117=)
|
|
|
NM_000238.4(KCNH2):c.3357G>A (p.Glu1119=)
|
rs1389024546
|
|
NM_000238.4(KCNH2):c.3366G>C (p.Pro1122=)
|
rs371473271
|
|
NM_000238.4(KCNH2):c.3384C>G (p.Pro1128=)
|
|
|
NM_000238.4(KCNH2):c.3384C>T (p.Pro1128=)
|
rs2116917718
|
|
NM_000238.4(KCNH2):c.3387A>G (p.Gln1129=)
|
|
|
NM_000238.4(KCNH2):c.33G>A (p.Gln11=)
|
rs1473417269
|
|
NM_000238.4(KCNH2):c.3417G>A (p.Pro1139=)
|
|
|
NM_000238.4(KCNH2):c.3429G>T (p.Gly1143=)
|
rs747931464
|
|
NM_000238.4(KCNH2):c.3432C>T (p.Ala1144=)
|
rs2116917441
|
|
NM_000238.4(KCNH2):c.3456A>G (p.Arg1152=)
|
rs1173999193
|
|
NM_000238.4(KCNH2):c.360G>A (p.Gly120=)
|
|
|
NM_000238.4(KCNH2):c.393G>A (p.Val131=)
|
rs754093210
|
|
NM_000238.4(KCNH2):c.396G>T (p.Val132=)
|
|
|
NM_000238.4(KCNH2):c.420C>T (p.Ser140=)
|
|
|
NM_000238.4(KCNH2):c.426T>C (p.Ala142=)
|
rs2117011686
|
|
NM_000238.4(KCNH2):c.42C>T (p.Phe14=)
|
|
|
NM_000238.4(KCNH2):c.435C>T (p.Thr145=)
|
rs1008362369
|
|
NM_000238.4(KCNH2):c.442C>A (p.Arg148=)
|
rs139544114
|
|
NM_000238.4(KCNH2):c.453C>T (p.Pro151=)
|
|
|
NM_000238.4(KCNH2):c.468C>A (p.Ala156=)
|
|
|
NM_000238.4(KCNH2):c.472+17T>C
|
|
|
NM_000238.4(KCNH2):c.472+19G>A
|
rs1350531891
|
|
NM_000238.4(KCNH2):c.472+7G>A
|
rs896402461
|
|
NM_000238.4(KCNH2):c.473-20G>A
|
rs1362273954
|
|
NM_000238.4(KCNH2):c.473-4G>A
|
rs1472016275
|
|
NM_000238.4(KCNH2):c.473-4G>T
|
rs1472016275
|
|
NM_000238.4(KCNH2):c.473-8T>A
|
rs1801464787
|
|
NM_000238.4(KCNH2):c.493C>T (p.Leu165=)
|
rs763058928
|
|
NM_000238.4(KCNH2):c.504C>A (p.Pro168=)
|
rs547228640
|
|
NM_000238.4(KCNH2):c.504C>T (p.Pro168=)
|
rs547228640
|
|
NM_000238.4(KCNH2):c.510G>T (p.Leu170=)
|
|
|
NM_000238.4(KCNH2):c.519G>A (p.Leu173=)
|
|
|
NM_000238.4(KCNH2):c.51C>A (p.Thr17=)
|
rs144338227
|
|
NM_000238.4(KCNH2):c.522G>A (p.Thr174=)
|
|
|
NM_000238.4(KCNH2):c.522G>C (p.Thr174=)
|
|
|
NM_000238.4(KCNH2):c.522G>T (p.Thr174=)
|
|
|
NM_000238.4(KCNH2):c.537G>A (p.Ser179=)
|
|
|
NM_000238.4(KCNH2):c.540G>A (p.Val180=)
|
|
|
NM_000238.4(KCNH2):c.543G>A (p.Arg181=)
|
rs2117006753
|
|
NM_000238.4(KCNH2):c.546G>T (p.Ser182=)
|
|
|
NM_000238.4(KCNH2):c.555G>T (p.Ala185=)
|
|
|
NM_000238.4(KCNH2):c.567C>G (p.Gly189=)
|
rs2117006470
|
|
NM_000238.4(KCNH2):c.567C>T (p.Gly189=)
|
|
|
NM_000238.4(KCNH2):c.573G>A (p.Pro191=)
|
|
|
NM_000238.4(KCNH2):c.576G>A (p.Gly192=)
|
rs2117006246
|
|
NM_000238.4(KCNH2):c.585G>A (p.Val195=)
|
rs2117006136
|
|
NM_000238.4(KCNH2):c.598C>T (p.Leu200=)
|
rs1057523402
|
|
NM_000238.4(KCNH2):c.600G>A (p.Leu200=)
|
rs2117006027
|
|
NM_000238.4(KCNH2):c.603G>A (p.Thr201=)
|
rs756435622
|
|
NM_000238.4(KCNH2):c.603G>T (p.Thr201=)
|
rs756435622
|
|
NM_000238.4(KCNH2):c.606C>T (p.Pro202=)
|
rs1188978264
|
|
NM_000238.4(KCNH2):c.60C>A (p.Arg20=)
|
rs748478702
|
|
NM_000238.4(KCNH2):c.60C>G (p.Arg20=)
|
rs748478702
|
|
NM_000238.4(KCNH2):c.624G>A (p.Glu208=)
|
|
|
NM_000238.4(KCNH2):c.627G>T (p.Ser209=)
|
|
|
NM_000238.4(KCNH2):c.639C>T (p.Asp213=)
|
|
|
NM_000238.4(KCNH2):c.63G>A (p.Lys21=)
|
|
|
NM_000238.4(KCNH2):c.657C>T (p.Asp219=)
|
rs1187595181
|
|
NM_000238.4(KCNH2):c.672G>T (p.Gly224=)
|
|
|
NM_000238.4(KCNH2):c.681C>A (p.Pro227=)
|
rs1554427841
|
|
NM_000238.4(KCNH2):c.681C>G (p.Pro227=)
|
rs1554427841
|
|
NM_000238.4(KCNH2):c.684G>A (p.Ala228=)
|
rs1350217087
|
|
NM_000238.4(KCNH2):c.684G>C (p.Ala228=)
|
rs1350217087
|
|
NM_000238.4(KCNH2):c.699G>T (p.Ala233=)
|
|
|
NM_000238.4(KCNH2):c.69G>A (p.Glu23=)
|
|
|
NM_000238.4(KCNH2):c.700C>T (p.Leu234=)
|
|
|
NM_000238.4(KCNH2):c.711C>G (p.Pro237=)
|
rs774222426
|
|
NM_000238.4(KCNH2):c.711C>T (p.Pro237=)
|
|
|
NM_000238.4(KCNH2):c.720G>C (p.Pro240=)
|
rs899939755
|
|
NM_000238.4(KCNH2):c.726C>T (p.Arg242=)
|
|
|
NM_000238.4(KCNH2):c.729C>T (p.Ser243=)
|
rs863224337
|
|
NM_000238.4(KCNH2):c.72C>G (p.Gly24=)
|
rs1436486897
|
|
NM_000238.4(KCNH2):c.732G>T (p.Ala244=)
|
rs1255299868
|
|
NM_000238.4(KCNH2):c.735C>T (p.Pro245=)
|
rs1361757645
|
|
NM_000238.4(KCNH2):c.738C>T (p.Gly246=)
|
|
|
NM_000238.4(KCNH2):c.744C>G (p.Leu248=)
|
rs1584865603
|
|
NM_000238.4(KCNH2):c.747A>G (p.Pro249=)
|
rs2117004364
|
|
NM_000238.4(KCNH2):c.750G>A (p.Ser250=)
|
|
|
NM_000238.4(KCNH2):c.754C>A (p.Arg252=)
|
rs199472874
|
|
NM_000238.4(KCNH2):c.756G>A (p.Arg252=)
|
rs2117004166
|
|
NM_000238.4(KCNH2):c.759G>A (p.Ala253=)
|
|
|
NM_000238.4(KCNH2):c.76+10G>A
|
rs1584885840
|
|
NM_000238.4(KCNH2):c.76+11G>A
|
|
|
NM_000238.4(KCNH2):c.76+15G>A
|
|
|
NM_000238.4(KCNH2):c.76+16G>T
|
|
|
NM_000238.4(KCNH2):c.76+19T>C
|
|
|
NM_000238.4(KCNH2):c.76+20_76+35del
|
|
|
NM_000238.4(KCNH2):c.76+8G>A
|
rs755499118
|
|
NM_000238.4(KCNH2):c.76+9G>A
|
|
|
NM_000238.4(KCNH2):c.765C>T (p.Ser255=)
|
rs2117004097
|
|
NM_000238.4(KCNH2):c.77-10del
|
rs2117064069
|
|
NM_000238.4(KCNH2):c.77-16C>T
|
|
|
NM_000238.4(KCNH2):c.77-18T>C
|
|
|
NM_000238.4(KCNH2):c.77-19C>G
|
rs2117064110
|
|
NM_000238.4(KCNH2):c.77-4C>T
|
rs1584883545
|
|
NM_000238.4(KCNH2):c.77-5C>A
|
rs72549419
|
|
NM_000238.4(KCNH2):c.77-5C>G
|
rs72549419
|
|
NM_000238.4(KCNH2):c.77-5C>T
|
rs72549419
|
|
NM_000238.4(KCNH2):c.77-6C>G
|
rs1474982625
|
|
NM_000238.4(KCNH2):c.77-6C>T
|
rs1474982625
|
|
NM_000238.4(KCNH2):c.77-7C>A
|
|
|
NM_000238.4(KCNH2):c.77-9C>T
|
rs1311500123
|
|
NM_000238.4(KCNH2):c.786C>A (p.Gly262=)
|
|
|
NM_000238.4(KCNH2):c.786C>T (p.Gly262=)
|
|
|
NM_000238.4(KCNH2):c.798C>T (p.Ser266=)
|
rs939487237
|
|
NM_000238.4(KCNH2):c.807G>A (p.Arg269=)
|
|
|
NM_000238.4(KCNH2):c.813C>T (p.Arg271=)
|
rs13230253
|
|
NM_000238.4(KCNH2):c.816C>G (p.Ser272=)
|
rs1457478171
|
|
NM_000238.4(KCNH2):c.819A>G (p.Arg273=)
|
|
|
NM_000238.4(KCNH2):c.834C>T (p.Ser278=)
|
rs1801441486
|
|
NM_000238.4(KCNH2):c.849G>C (p.Ser283=)
|
rs1801440759
|
|
NM_000238.4(KCNH2):c.855C>G (p.Ala285=)
|
rs1475464155
|
|
NM_000238.4(KCNH2):c.855C>T (p.Ala285=)
|
|
|
NM_000238.4(KCNH2):c.870C>A (p.Ala290=)
|
|
|
NM_000238.4(KCNH2):c.876C>T (p.Arg292=)
|
|
|
NM_000238.4(KCNH2):c.879C>A (p.Ala293=)
|
|
|
NM_000238.4(KCNH2):c.87C>T (p.Phe29=)
|
rs199472830
|
|
NM_000238.4(KCNH2):c.888G>C (p.Leu296=)
|
rs1157638570
|
|
NM_000238.4(KCNH2):c.897A>C (p.Pro299=)
|
|
|
NM_000238.4(KCNH2):c.906C>T (p.His302=)
|
|
|
NM_000238.4(KCNH2):c.909C>G (p.Ala303=)
|
|
|
NM_000238.4(KCNH2):c.912C>T (p.Ser304=)
|
rs1801436652
|
|
NM_000238.4(KCNH2):c.916+14_916+15delinsTA
|
rs2117002143
|
|
NM_000238.4(KCNH2):c.916+8C>T
|
|
|
NM_000238.4(KCNH2):c.916+9G>A
|
rs1801436106
|
|
NM_000238.4(KCNH2):c.917-10C>T
|
rs767322698
|
|
NM_000238.4(KCNH2):c.917-13C>T
|
|
|
NM_000238.4(KCNH2):c.917-16C>G
|
|
|
NM_000238.4(KCNH2):c.917-17G>A
|
rs1315999663
|
|
NM_000238.4(KCNH2):c.917-17G>T
|
|
|
NM_000238.4(KCNH2):c.917-5C>T
|
rs1563168459
|
|
NM_000238.4(KCNH2):c.927C>T (p.His309=)
|
rs775056804
|
|
NM_000238.4(KCNH2):c.933G>A (p.Leu311=)
|
rs1801415043
|
|
NM_000238.4(KCNH2):c.936C>T (p.Arg312=)
|
|
|
NM_000238.4(KCNH2):c.93C>A (p.Ile31=)
|
rs745885744
|
|
NM_000238.4(KCNH2):c.93C>T (p.Ile31=)
|
rs745885744
|
|
NM_000238.4(KCNH2):c.942C>T (p.Gly314=)
|
|
|
NM_000238.4(KCNH2):c.954C>T (p.Ser318=)
|
|
|
NM_000238.4(KCNH2):c.960G>A (p.Ser320=)
|
rs757055211
|
|
NM_000238.4(KCNH2):c.960G>C (p.Ser320=)
|
|
|
NM_000238.4(KCNH2):c.96C>T (p.Ala32=)
|
|
|
NM_000238.4(KCNH2):c.972C>G (p.Leu324=)
|
|
|
NM_000238.4(KCNH2):c.978C>T (p.Arg326=)
|
rs1346776296
|
|
NM_000238.4(KCNH2):c.9G>A (p.Val3=)
|
rs762691171
|
|
NM_000719.7(CACNA1C):c.1035C>T (p.Asn345=)
|
rs1254050843
|
|
NM_000719.7(CACNA1C):c.1044C>T (p.Asn348=)
|
rs764411892
|
|
NM_000719.7(CACNA1C):c.1056C>T (p.Ala352=)
|
rs2154571843
|
|
NM_000719.7(CACNA1C):c.105A>G (p.Ala35=)
|
rs2154136895
|
|
NM_000719.7(CACNA1C):c.1062C>T (p.Leu354=)
|
|
|
NM_000719.7(CACNA1C):c.1068G>A (p.Val356=)
|
rs778614316
|
|
NM_000719.7(CACNA1C):c.1098G>C (p.Thr366=)
|
|
|
NM_000719.7(CACNA1C):c.1107G>C (p.Leu369=)
|
rs1021674676
|
|
NM_000719.7(CACNA1C):c.1113+11T>C
|
|
|
NM_000719.7(CACNA1C):c.1113+17G>A
|
|
|
NM_000719.7(CACNA1C):c.1113+7A>C
|
|
|
NM_000719.7(CACNA1C):c.1113+9C>T
|
|
|
NM_000719.7(CACNA1C):c.1114-16C>G
|
|
|
NM_000719.7(CACNA1C):c.1114-18A>G
|
rs763200806
|
|
NM_000719.7(CACNA1C):c.1114-285A>G
|
|
|
NM_000719.7(CACNA1C):c.1114-295G>A
|
|
|
NM_000719.7(CACNA1C):c.1114-410C>A
|
rs1843666783
|
|
NM_000719.7(CACNA1C):c.1114-421C>A
|
rs755776209
|
|
NM_000719.7(CACNA1C):c.1114-421C>T
|
|
|
NM_000719.7(CACNA1C):c.1114-422T>C
|
rs780604576
|
|
NM_000719.7(CACNA1C):c.1114-422T>G
|
|
|
NM_000719.7(CACNA1C):c.1114-423T>C
|
rs2099767230
|
|
NM_000719.7(CACNA1C):c.1116C>A (p.Val372=)
|
rs2154577554
|
|
NM_000719.7(CACNA1C):c.1143C>G (p.Pro381=)
|
|
|
NM_000719.7(CACNA1C):c.1161A>G (p.Thr387=)
|
|
|
NM_000719.7(CACNA1C):c.1167C>T (p.Ile389=)
|
rs2154577572
|
|
NM_000719.7(CACNA1C):c.1179A>G (p.Ser393=)
|
rs1051361
|
|
NM_000719.7(CACNA1C):c.117C>G (p.Ala39=)
|
rs2154136907
|
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NM_000719.7(CACNA1C):c.1194C>T (p.Asn398=)
|
|
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NM_000719.7(CACNA1C):c.1203C>T (p.Leu401=)
|
rs2099768275
|
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NM_000719.7(CACNA1C):c.1217+12C>G
|
rs755471406
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NM_000719.7(CACNA1C):c.1217+18A>T
|
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NM_000719.7(CACNA1C):c.1217+9G>A
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NM_000719.7(CACNA1C):c.1218-11_1218-8del
|
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NM_000719.7(CACNA1C):c.1218-14C>T
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NM_000719.7(CACNA1C):c.1218-16C>G
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NM_000719.7(CACNA1C):c.1218-18T>C
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NM_000719.7(CACNA1C):c.1218-6C>G
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NM_000719.7(CACNA1C):c.1218-6C>T
|
rs727503833
|
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NM_000719.7(CACNA1C):c.1252C>A (p.Arg418=)
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NM_000719.7(CACNA1C):c.1275G>A (p.Arg425=)
|
rs887707998
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NM_000719.7(CACNA1C):c.129C>T (p.Ile43=)
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rs2154136926
|
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NM_000719.7(CACNA1C):c.1302C>G (p.Leu434=)
|
rs777768545
|
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NM_000719.7(CACNA1C):c.1332C>G (p.Ala444=)
|
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NM_000719.7(CACNA1C):c.1338C>T (p.Asp446=)
|
rs2154579676
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NM_000719.7(CACNA1C):c.135C>T (p.Thr45=)
|
rs749123185
|
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NM_000719.7(CACNA1C):c.1374G>A (p.Glu458=)
|
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NM_000719.7(CACNA1C):c.1383C>A (p.Pro461=)
|
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NM_000719.7(CACNA1C):c.1390+10C>T
|
|
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NM_000719.7(CACNA1C):c.1390+12TCT[2]
|
|
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NM_000719.7(CACNA1C):c.1391-4G>A
|
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NM_000719.7(CACNA1C):c.144T>C (p.Ala48=)
|
rs2083406685
|
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NM_000719.7(CACNA1C):c.1455G>A (p.Glu485=)
|
|
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NM_000719.7(CACNA1C):c.1455G>C (p.Glu485Asp)
|
|
|
NM_000719.7(CACNA1C):c.1470G>A (p.Gly490=)
|
rs1337579827
|
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NM_000719.7(CACNA1C):c.1476G>A (p.Arg492=)
|
rs1447946742
|
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NM_000719.7(CACNA1C):c.1479G>A (p.Leu493=)
|
rs1555775201
|
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NM_000719.7(CACNA1C):c.1481+10C>A
|
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NM_000719.7(CACNA1C):c.1481+9G>A
|
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NM_000719.7(CACNA1C):c.1482-15C>T
|
rs1057521702
|
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NM_000719.7(CACNA1C):c.1482-8T>A
|
rs2044651283
|
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NM_000719.7(CACNA1C):c.1491C>T (p.Ile497=)
|
rs750329281
|
|
NM_000719.7(CACNA1C):c.1500A>G (p.Ser500=)
|
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NM_000719.7(CACNA1C):c.1508+14dup
|
rs1428591728
|
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NM_000719.7(CACNA1C):c.1508+19G>T
|
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NM_000719.7(CACNA1C):c.1508+20C>T
|
rs1471165180
|
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NM_000719.7(CACNA1C):c.1508+7G>T
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NM_000719.7(CACNA1C):c.1508+9G>A
|
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NM_000719.7(CACNA1C):c.1509-17C>A
|
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NM_000719.7(CACNA1C):c.1509-17C>T
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NM_000719.7(CACNA1C):c.1509-9C>G
|
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NM_000719.7(CACNA1C):c.150G>A (p.Leu50=)
|
rs1383351740
|
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NM_000719.7(CACNA1C):c.1539C>T (p.Cys513=)
|
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NM_000719.7(CACNA1C):c.153G>T (p.Ser51=)
|
rs563315606
|
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NM_000719.7(CACNA1C):c.1557C>T (p.Ala519=)
|
rs186720824
|
|
NM_000719.7(CACNA1C):c.1569T>C (p.Ser523=)
|
rs2154593335
|
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NM_000719.7(CACNA1C):c.1575C>T (p.Val525=)
|
rs1395286439
|
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NM_000719.7(CACNA1C):c.1597C>T (p.Leu533=)
|
rs2050976205
|
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NM_000719.7(CACNA1C):c.1605C>T (p.Phe535=)
|
rs1600338231
|
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NM_000719.7(CACNA1C):c.1608C>T (p.Leu536=)
|
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NM_000719.7(CACNA1C):c.1611C>T (p.Asn537=)
|
rs1193363186
|
|
NM_000719.7(CACNA1C):c.162G>C (p.Ala54=)
|
rs760297846
|
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NM_000719.7(CACNA1C):c.1635C>T (p.His545=)
|
rs1171966123
|
|
NM_000719.7(CACNA1C):c.1647C>T (p.Pro549=)
|
rs2154593340
|
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NM_000719.7(CACNA1C):c.1659A>C (p.Thr553=)
|
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NM_000719.7(CACNA1C):c.1669+17G>T
|
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NM_000719.7(CACNA1C):c.1669+7G>T
|
rs772951246
|
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NM_000719.7(CACNA1C):c.1670-13C>T
|
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NM_000719.7(CACNA1C):c.1670-19C>T
|
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NM_000719.7(CACNA1C):c.1670-8C>A
|
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NM_000719.7(CACNA1C):c.1670-9G>T
|
rs2154593413
|
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NM_000719.7(CACNA1C):c.1683G>A (p.Lys561=)
|
rs1203726409
|
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NM_000719.7(CACNA1C):c.1686C>G (p.Ala562=)
|
rs748256548
|
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NM_000719.7(CACNA1C):c.1717C>T (p.Leu573=)
|
rs2154593421
|
|
NM_000719.7(CACNA1C):c.1732C>T (p.Leu578=)
|
rs2154593424
|
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NM_000719.7(CACNA1C):c.1734G>C (p.Leu578=)
|
rs150692845
|
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NM_000719.7(CACNA1C):c.1740G>A (p.Leu580=)
|
rs1373658871
|
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NM_000719.7(CACNA1C):c.1758C>G (p.Ser586=)
|
rs2154593428
|
|
NM_000719.7(CACNA1C):c.1770C>T (p.Arg590=)
|
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NM_000719.7(CACNA1C):c.1776C>T (p.Asp592=)
|
|
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NM_000719.7(CACNA1C):c.1785C>G (p.Val595=)
|
|
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NM_000719.7(CACNA1C):c.1818G>A (p.Val606=)
|
rs2154593435
|
|
NM_000719.7(CACNA1C):c.1824C>A (p.Thr608=)
|
rs762503774
|
|
NM_000719.7(CACNA1C):c.1828A>G (p.Ile610Val)
|
|
|
NM_000719.7(CACNA1C):c.1839A>C (p.Pro613=)
|
rs1060504922
|
|
NM_000719.7(CACNA1C):c.1840C>T (p.Leu614=)
|
|
|
NM_000719.7(CACNA1C):c.1842G>C (p.Leu614=)
|
rs1600388690
|
|
NM_000719.7(CACNA1C):c.1851C>T (p.Ser617=)
|
rs371654949
|
|
NM_000719.7(CACNA1C):c.1895+13C>T
|
|
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NM_000719.7(CACNA1C):c.1895+14C>T
|
|
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NM_000719.7(CACNA1C):c.1895+19C>G
|
|
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NM_000719.7(CACNA1C):c.1895+7G>A
|
rs767905628
|
|
NM_000719.7(CACNA1C):c.1895+7G>C
|
rs767905628
|
|
NM_000719.7(CACNA1C):c.1895+8dup
|
|
|
NM_000719.7(CACNA1C):c.1896-15_1896-13del
|
|
|
NM_000719.7(CACNA1C):c.1896-17C>G
|
rs746887798
|
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NM_000719.7(CACNA1C):c.1896-18C>T
|
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NM_000719.7(CACNA1C):c.1896-20T>C
|
|
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NM_000719.7(CACNA1C):c.1896-8G>A
|
|
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NM_000719.7(CACNA1C):c.18G>A (p.Thr6=)
|
|
|
NM_000719.7(CACNA1C):c.1917C>T (p.Asn639=)
|
rs1057524804
|
|
NM_000719.7(CACNA1C):c.1938C>T (p.Asn646=)
|
rs1163407170
|
|
NM_000719.7(CACNA1C):c.1956C>T (p.Ala652=)
|
|
|
NM_000719.7(CACNA1C):c.1962G>A (p.Leu654=)
|
|
|
NM_000719.7(CACNA1C):c.1965C>G (p.Leu655=)
|
rs775843731
|
|
NM_000719.7(CACNA1C):c.1965C>T (p.Leu655=)
|
rs775843731
|
|
NM_000719.7(CACNA1C):c.1983C>T (p.Phe661=)
|
rs1555825459
|
|
NM_000719.7(CACNA1C):c.198C>G (p.Gly66=)
|
rs1060504919
|
|
NM_000719.7(CACNA1C):c.198C>T (p.Gly66=)
|
rs1060504919
|
|
NM_000719.7(CACNA1C):c.2002C>T (p.Leu668=)
|
|
|
NM_000719.7(CACNA1C):c.204T>A (p.Ala68=)
|
rs1364792147
|
|
NM_000719.7(CACNA1C):c.2055G>A (p.Arg685=)
|
rs2153223873
|
|
NM_000719.7(CACNA1C):c.2058G>A (p.Arg686=)
|
rs2153223874
|
|
NM_000719.7(CACNA1C):c.2091C>T (p.Leu697=)
|
|
|
NM_000719.7(CACNA1C):c.20G>C (p.Arg7Thr)
|
|
|
NM_000719.7(CACNA1C):c.2115G>T (p.Gly705=)
|
|
|
NM_000719.7(CACNA1C):c.2178G>A (p.Gly726=)
|
rs1601019645
|
|
NM_000719.7(CACNA1C):c.2188T>A (p.Cys730Ser)
|
|
|
NM_000719.7(CACNA1C):c.21G>T (p.Arg7Ser)
|
|
|
NM_000719.7(CACNA1C):c.2224+16G>A
|
|
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NM_000719.7(CACNA1C):c.2224+19C>T
|
|
|
NM_000719.7(CACNA1C):c.2224+9dup
|
rs2061040966
|
|
NM_000719.7(CACNA1C):c.2225-12G>T
|
|
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NM_000719.7(CACNA1C):c.2225-8A>C
|
|
|
NM_000719.7(CACNA1C):c.2229C>T (p.Ile743=)
|
rs759734767
|
|
NM_000719.7(CACNA1C):c.2238T>C (p.Asn746=)
|
rs2153229430
|
|
NM_000719.7(CACNA1C):c.2265C>T (p.Asn755=)
|
|
|
NM_000719.7(CACNA1C):c.2268G>T (p.Leu756=)
|
rs2061708057
|
|
NM_000719.7(CACNA1C):c.2289A>T (p.Thr763=)
|
rs2061711741
|
|
NM_000719.7(CACNA1C):c.2319G>A (p.Lys773=)
|
|
|
NM_000719.7(CACNA1C):c.2323A>C (p.Arg775=)
|
|
|
NM_000719.7(CACNA1C):c.2337C>A (p.Ala779=)
|
rs1291124140
|
|
NM_000719.7(CACNA1C):c.2339+10T>G
|
rs1240969473
|
|
NM_000719.7(CACNA1C):c.2339+11A>C
|
|
|
NM_000719.7(CACNA1C):c.2339+16T>C
|
rs540949447
|
|
NM_000719.7(CACNA1C):c.2339+19C>G
|
rs952576649
|
|
NM_000719.7(CACNA1C):c.2339+7C>G
|
rs748481639
|
|
NM_000719.7(CACNA1C):c.2339+7C>T
|
rs748481639
|
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NM_000719.7(CACNA1C):c.2340-12C>G
|
|
|
NM_000719.7(CACNA1C):c.2340-4C>G
|
rs1157833396
|
|
NM_000719.7(CACNA1C):c.2340-6G>C
|
|
|
NM_000719.7(CACNA1C):c.2346C>T (p.Ala782=)
|
|
|
NM_000719.7(CACNA1C):c.234C>T (p.Ser78=)
|
rs1060504924
|
|
NM_000719.7(CACNA1C):c.2370G>A (p.Leu790=)
|
|
|
NM_000719.7(CACNA1C):c.2376G>A (p.Glu792=)
|
rs2153231554
|
|
NM_000719.7(CACNA1C):c.237G>A (p.Thr79=)
|
rs374468402
|
|
NM_000719.7(CACNA1C):c.2394A>G (p.Glu798=)
|
rs1187672149
|
|
NM_000719.7(CACNA1C):c.2397C>T (p.Ser799=)
|
rs1440491763
|
|
NM_000719.7(CACNA1C):c.2411T>C (p.Ile804Thr)
|
|
|
NM_000719.7(CACNA1C):c.2430G>T (p.Thr810=)
|
|
|
NM_000719.7(CACNA1C):c.2456C>T (p.Thr819Ile)
|
|
|
NM_000719.7(CACNA1C):c.2460+10T>C
|
rs1601147859
|
|
NM_000719.7(CACNA1C):c.2460+11G>A
|
|
|
NM_000719.7(CACNA1C):c.2460+8G>A
|
|
|
NM_000719.7(CACNA1C):c.2461-10G>C
|
|
|
NM_000719.7(CACNA1C):c.2461-8C>T
|
|
|
NM_000719.7(CACNA1C):c.246G>A (p.Lys82=)
|
|
|
NM_000719.7(CACNA1C):c.2481G>A (p.Gln827=)
|
rs2153232494
|
|
NM_000719.7(CACNA1C):c.2484C>T (p.Pro828=)
|
|
|
NM_000719.7(CACNA1C):c.2496G>A (p.Glu832=)
|
|
|
NM_000719.7(CACNA1C):c.2530+10C>T
|
rs1601164807
|
|
NM_000719.7(CACNA1C):c.2531-13G>A
|
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
NM_000719.7(CACNA1C):c.2553A>G (p.Pro851=)
|
rs775270597
|
|
NM_000719.7(CACNA1C):c.2571T>C (p.Pro857=)
|
rs2153339232
|
|
NM_000719.7(CACNA1C):c.2583A>G (p.Pro861=)
|
|
|
NM_000719.7(CACNA1C):c.2586C>G (p.Leu862=)
|
rs2066343746
|
|
NM_000719.7(CACNA1C):c.2586C>T (p.Leu862=)
|
|
|
NM_000719.7(CACNA1C):c.2592G>A (p.Glu864=)
|
|
|
NM_000719.7(CACNA1C):c.2646C>A (p.Ile882=)
|
|
|
NM_000719.7(CACNA1C):c.2649C>T (p.Phe883=)
|
|
|
NM_000719.7(CACNA1C):c.2663+15T>A
|
|
|
NM_000719.7(CACNA1C):c.2663+9C>T
|
rs1601458995
|
|
NM_000719.7(CACNA1C):c.2664-12T>C
|
rs2153363359
|
|
NM_000719.7(CACNA1C):c.2664-18G>A
|
|
|
NM_000719.7(CACNA1C):c.2664-20C>T
|
|
|
NM_000719.7(CACNA1C):c.2664-6G>T
|
|
|
NM_000719.7(CACNA1C):c.2694T>C (p.Asn898=)
|
rs2153363748
|
|
NM_000719.7(CACNA1C):c.2697C>T (p.Asp899=)
|
rs2153363781
|
|
NM_000719.7(CACNA1C):c.2700G>T (p.Thr900=)
|
|
|
NM_000719.7(CACNA1C):c.2713C>T (p.Leu905=)
|
rs2153363888
|
|
NM_000719.7(CACNA1C):c.2715G>T (p.Leu905=)
|
rs573906794
|
|
NM_000719.7(CACNA1C):c.2733G>C (p.Leu911=)
|
|
|
NM_000719.7(CACNA1C):c.2751G>T (p.Leu917=)
|
|
|
NM_000719.7(CACNA1C):c.2763C>T (p.Asp921=)
|
|
|
NM_000719.7(CACNA1C):c.2794-10T>G
|
rs2068755022
|
|
NM_000719.7(CACNA1C):c.2794-15C>A
|
|
|
NM_000719.7(CACNA1C):c.2794-5T>C
|
rs1568666242
|
|
NM_000719.7(CACNA1C):c.27C>T (p.Tyr9=)
|
rs2154502663
|
|
NM_000719.7(CACNA1C):c.282C>T (p.Ser94=)
|
rs774821611
|
|
NM_000719.7(CACNA1C):c.2847T>A (p.Ala949=)
|
|
|
NM_000719.7(CACNA1C):c.2850G>A (p.Leu950=)
|
|
|
NM_000719.7(CACNA1C):c.2853+216A>G
|
rs2153374222
|
|
NM_000719.7(CACNA1C):c.2853+217C>A
|
|
|
NM_000719.7(CACNA1C):c.2853+217C>T
|
rs749006268
|
|
NM_000719.7(CACNA1C):c.2853+8C>T
|
rs769463930
|
|
NM_000719.7(CACNA1C):c.2854-14G>T
|
rs751337744
|
|
NM_000719.7(CACNA1C):c.2854-18C>A
|
|
|
NM_000719.7(CACNA1C):c.2854-5T>G
|
rs2072537795
|
|
NM_000719.7(CACNA1C):c.2854-7C>T
|
rs2153406205
|
|
NM_000719.7(CACNA1C):c.2854-8C>T
|
|
|
NM_000719.7(CACNA1C):c.2913C>T (p.Ile971=)
|
|
|
NM_000719.7(CACNA1C):c.2937G>T (p.Val979=)
|
rs1016238751
|
|
NM_000719.7(CACNA1C):c.2940C>T (p.Ser980=)
|
|
|
NM_000719.7(CACNA1C):c.2949C>T (p.Ser983=)
|
rs2153406422
|
|
NM_000719.7(CACNA1C):c.2958C>T (p.Ile986=)
|
rs886049203
|
|
NM_000719.7(CACNA1C):c.2960+18A>G
|
|
|
NM_000719.7(CACNA1C):c.2960+20C>G
|
|
|
NM_000719.7(CACNA1C):c.2970A>G (p.Ala990=)
|
|
|
NM_000719.7(CACNA1C):c.2979C>T (p.Val993=)
|
rs1025481136
|
|
NM_000719.7(CACNA1C):c.2988C>T (p.Ile996=)
|
rs886039065
|
|
NM_000719.7(CACNA1C):c.300G>T (p.Pro100=)
|
|
|
NM_000719.7(CACNA1C):c.3018G>A (p.Leu1006=)
|
|
|
NM_000719.7(CACNA1C):c.3048+20A>C
|
|
|
NM_000719.7(CACNA1C):c.3049-13C>T
|
rs749065737
|
|
NM_000719.7(CACNA1C):c.3049-14C>G
|
|
|
NM_000719.7(CACNA1C):c.3049-17G>A
|
|
|
NM_000719.7(CACNA1C):c.3049-17G>T
|
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NM_000719.7(CACNA1C):c.3049-18C>G
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NM_000719.7(CACNA1C):c.3049-4G>A
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NM_000719.7(CACNA1C):c.3049-7A>C
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NM_000719.7(CACNA1C):c.3096C>A (p.Ile1032=)
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NM_000719.7(CACNA1C):c.309C>T (p.Ala103=)
|
rs757538469
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NM_000719.7(CACNA1C):c.30T>C (p.Ile10=)
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rs1383697367
|
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NM_000719.7(CACNA1C):c.3117G>A (p.Leu1039=)
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NM_000719.7(CACNA1C):c.3129T>C (p.Phe1043=)
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NM_000719.7(CACNA1C):c.3132C>T (p.Ala1044=)
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NM_000719.7(CACNA1C):c.3150C>T (p.Leu1050=)
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NM_000719.7(CACNA1C):c.3156+10G>T
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NM_000719.7(CACNA1C):c.3156+12G>T
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NM_000719.7(CACNA1C):c.3156+16C>T
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NM_000719.7(CACNA1C):c.3157-10T>C
|
rs1337865643
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NM_000719.7(CACNA1C):c.3157-11C>T
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NM_000719.7(CACNA1C):c.3157-8C>A
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NM_000719.7(CACNA1C):c.3159A>G (p.Gly1053=)
|
rs764298283
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NM_000719.7(CACNA1C):c.3180C>T (p.Asp1060=)
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rs2153431200
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NM_000719.7(CACNA1C):c.318C>T (p.Cys106=)
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NM_000719.7(CACNA1C):c.3201G>C (p.Ala1067=)
|
rs758461435
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NM_000719.7(CACNA1C):c.3209+15G>C
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NM_000719.7(CACNA1C):c.3209+19G>T
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NM_000719.7(CACNA1C):c.3209+7A>G
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NM_000719.7(CACNA1C):c.3210-12C>T
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NM_000719.7(CACNA1C):c.3210-16_3210-14del
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NM_000719.7(CACNA1C):c.3210-19C>A
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rs775045125
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NM_000719.7(CACNA1C):c.3210-19_3210-17del
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NM_000719.7(CACNA1C):c.3225G>T (p.Thr1075=)
|
rs1229921966
|
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NM_000719.7(CACNA1C):c.3240G>A (p.Glu1080=)
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rs1555882488
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NM_000719.7(CACNA1C):c.324C>T (p.Thr108=)
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NM_000719.7(CACNA1C):c.3252C>G (p.Pro1084=)
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NM_000719.7(CACNA1C):c.3261A>G (p.Gln1087=)
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NM_000719.7(CACNA1C):c.3324C>A (p.Leu1108=)
|
rs2153433279
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NM_000719.7(CACNA1C):c.3327C>T (p.Phe1109=)
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rs2075712869
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NM_000719.7(CACNA1C):c.3356+15C>A
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rs1330501233
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NM_000719.7(CACNA1C):c.3356+20C>T
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NM_000719.7(CACNA1C):c.3356+8T>C
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rs2153433417
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NM_000719.7(CACNA1C):c.3357-16C>G
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rs201876309
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NM_000719.7(CACNA1C):c.3357-19G>A
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NM_000719.7(CACNA1C):c.3357-20G>A
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rs769877763
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NM_000719.7(CACNA1C):c.3357-4G>A
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NM_000719.7(CACNA1C):c.3357-6C>T
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NM_000719.7(CACNA1C):c.3357-7_3357-5del
|
rs748106344
|
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NM_000719.7(CACNA1C):c.3393C>T (p.Asp1131=)
|
rs1180370037
|
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NM_000719.7(CACNA1C):c.3399C>T (p.Gly1133=)
|
rs749617983
|
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NM_000719.7(CACNA1C):c.33A>G (p.Pro11=)
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NM_000719.7(CACNA1C):c.3405C>A (p.Ile1135=)
|
rs1324768943
|
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NM_000719.7(CACNA1C):c.3441C>T (p.Ile1147=)
|
rs899600937
|
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NM_000719.7(CACNA1C):c.345G>A (p.Arg115=)
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NM_000719.7(CACNA1C):c.3489C>T (p.Gly1163=)
|
rs1057522786
|
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NM_000719.7(CACNA1C):c.3495C>G (p.Val1165=)
|
rs1428160387
|
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NM_000719.7(CACNA1C):c.3522G>A (p.Glu1174=)
|
rs779571274
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NM_000719.7(CACNA1C):c.3558+13G>A
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NM_000719.7(CACNA1C):c.3558+17G>A
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NM_000719.7(CACNA1C):c.3558+20C>A
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rs747852949
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NM_000719.7(CACNA1C):c.3558+20C>T
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NM_000719.7(CACNA1C):c.3559-12C>T
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rs2153449709
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NM_000719.7(CACNA1C):c.3559-14C>T
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NM_000719.7(CACNA1C):c.3559-15C>T
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NM_000719.7(CACNA1C):c.3559-17C>T
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rs897046930
|
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NM_000719.7(CACNA1C):c.3559-5C>T
|
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NM_000719.7(CACNA1C):c.3589C>A (p.Arg1197=)
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NM_000719.7(CACNA1C):c.3597G>A (p.Leu1199=)
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NM_000719.7(CACNA1C):c.360T>C (p.Ile120=)
|
rs2154137225
|
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NM_000719.7(CACNA1C):c.3621G>A (p.Gln1207=)
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NM_000719.7(CACNA1C):c.363C>G (p.Val121=)
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NM_000719.7(CACNA1C):c.3648C>T (p.Val1216=)
|
rs1057521327
|
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NM_000719.7(CACNA1C):c.3660C>T (p.Tyr1220=)
|
rs1602005148
|
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NM_000719.7(CACNA1C):c.3669C>T (p.Tyr1223=)
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NM_000719.7(CACNA1C):c.3687C>A (p.Ile1229=)
|
rs1602005761
|
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NM_000719.7(CACNA1C):c.3696C>T (p.Asn1232=)
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NM_000719.7(CACNA1C):c.3702C>T (p.Ile1234=)
|
rs1602006284
|
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NM_000719.7(CACNA1C):c.3705C>T (p.Cys1235=)
|
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NM_000719.7(CACNA1C):c.3706C>T (p.Leu1236=)
|
rs1032468475
|
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NM_000719.7(CACNA1C):c.371+13C>T
|
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NM_000719.7(CACNA1C):c.371+16C>G
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NM_000719.7(CACNA1C):c.371+20C>T
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NM_000719.7(CACNA1C):c.3717+14G>A
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NM_000719.7(CACNA1C):c.3717+15G>C
|
rs969140430
|
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NM_000719.7(CACNA1C):c.3717+16A>G
|
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NM_000719.7(CACNA1C):c.3717+7C>A
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NM_000719.7(CACNA1C):c.3718-14C>T
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NM_000719.7(CACNA1C):c.3718-16C>T
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NM_000719.7(CACNA1C):c.3718-17C>G
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NM_000719.7(CACNA1C):c.3718-4G>A
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NM_000719.7(CACNA1C):c.372-10C>G
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NM_000719.7(CACNA1C):c.372-17T>C
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NM_000719.7(CACNA1C):c.372-18C>T
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NM_000719.7(CACNA1C):c.372-64T>C
|
rs1596372167
|
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NM_000719.7(CACNA1C):c.3789C>T (p.Thr1263=)
|
rs765393806
|
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NM_000719.7(CACNA1C):c.3802C>T (p.Leu1268=)
|
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NM_000719.7(CACNA1C):c.3810C>T (p.Leu1270=)
|
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NM_000719.7(CACNA1C):c.3828+17G>A
|
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NM_000719.7(CACNA1C):c.3828+19C>A
|
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NM_000719.7(CACNA1C):c.3829-152A>C
|
rs1603006225
|
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NM_000719.7(CACNA1C):c.3829-6A>G
|
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NM_000719.7(CACNA1C):c.3829-85C>A
|
rs1206288485
|
|
NM_000719.7(CACNA1C):c.3834T>C (p.Tyr1278=)
|
|
|
NM_000719.7(CACNA1C):c.3837C>T (p.Phe1279=)
|
|
|
NM_000719.7(CACNA1C):c.3846A>C (p.Ala1282=)
|
rs1367812313
|
|
NM_000719.7(CACNA1C):c.3852T>C (p.Asn1284=)
|
rs1603021612
|
|
NM_000719.7(CACNA1C):c.3861C>T (p.Asp1287=)
|
|
|
NM_000719.7(CACNA1C):c.3862G>A (p.Ala1288Thr)
|
rs367895193
|
|
NM_000719.7(CACNA1C):c.3873T>C (p.Val1291=)
|
|
|
NM_000719.7(CACNA1C):c.3894A>T (p.Ile1298=)
|
rs2153572525
|
|
NM_000719.7(CACNA1C):c.3903C>G (p.Thr1301=)
|
rs1489840314
|
|
NM_000719.7(CACNA1C):c.3912+13C>T
|
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NM_000719.7(CACNA1C):c.3912+9A>C
|
rs1380438006
|
|
NM_000719.7(CACNA1C):c.3913-18A>G
|
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NM_000719.7(CACNA1C):c.3945+10A>T
|
rs2153638149
|
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NM_000719.7(CACNA1C):c.3945+17C>A
|
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NM_000719.7(CACNA1C):c.3945+17C>T
|
rs375789498
|
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NM_000719.7(CACNA1C):c.3945+17del
|
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NM_000719.7(CACNA1C):c.3945+19A>C
|
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NM_000719.7(CACNA1C):c.3945+7C>G
|
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NM_000719.7(CACNA1C):c.3946-13C>G
|
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NM_000719.7(CACNA1C):c.3946-13C>T
|
rs757785634
|
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NM_000719.7(CACNA1C):c.3946-15G>C
|
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NM_000719.7(CACNA1C):c.3946-7G>A
|
rs1060504923
|
|
NM_000719.7(CACNA1C):c.3946-8G>T
|
|
|
NM_000719.7(CACNA1C):c.3951A>G (p.Ala1317=)
|
rs1444937156
|
|
NM_000719.7(CACNA1C):c.3981C>T (p.Phe1327=)
|
|
|
NM_000719.7(CACNA1C):c.3990G>A (p.Leu1330=)
|
|
|
NM_000719.7(CACNA1C):c.3996G>A (p.Arg1332=)
|
|
|
NM_000719.7(CACNA1C):c.4015C>T (p.Leu1339=)
|
|
|
NM_000719.7(CACNA1C):c.4020G>C (p.Leu1340=)
|
rs775743198
|
|
NM_000719.7(CACNA1C):c.4029G>A (p.Gly1343=)
|
rs1437448208
|
|
NM_000719.7(CACNA1C):c.4032G>A (p.Glu1344=)
|
rs2153655310
|
|
NM_000719.7(CACNA1C):c.4048C>T (p.Leu1350=)
|
|
|
NM_000719.7(CACNA1C):c.4056C>T (p.Thr1352=)
|
|
|
NM_000719.7(CACNA1C):c.4068C>A (p.Ser1356=)
|
rs765091519
|
|
NM_000719.7(CACNA1C):c.4071C>T (p.Phe1357=)
|
|
|
NM_000719.7(CACNA1C):c.4074+10C>T
|
rs564029809
|
|
NM_000719.7(CACNA1C):c.4075-7del
|
rs951281182
|
|
NM_000719.7(CACNA1C):c.4080G>A (p.Leu1360=)
|
rs2153664259
|
|
NM_000719.7(CACNA1C):c.4083C>T (p.Pro1361=)
|
rs529645023
|
|
NM_000719.7(CACNA1C):c.4101C>T (p.Ile1367=)
|
|
|
NM_000719.7(CACNA1C):c.4108C>T (p.Leu1370=)
|
|
|
NM_000719.7(CACNA1C):c.4110G>A (p.Leu1370=)
|
|
|
NM_000719.7(CACNA1C):c.4125G>A (p.Ala1375=)
|
|
|
NM_000719.7(CACNA1C):c.4140+12C>T
|
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|
NM_000719.7(CACNA1C):c.4140+20G>A
|
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|
NM_000719.7(CACNA1C):c.4140+20G>C
|
rs377631971
|
|
NM_000719.7(CACNA1C):c.4141-11C>A
|
rs2153668732
|
|
NM_000719.7(CACNA1C):c.4141-18C>G
|
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|
NM_000719.7(CACNA1C):c.4141-20C>T
|
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|
NM_000719.7(CACNA1C):c.4141-5C>T
|
rs1603374438
|
|
NM_000719.7(CACNA1C):c.4164T>C (p.Asn1388=)
|
|
|
NM_000719.7(CACNA1C):c.4176G>A (p.Glu1392=)
|
rs1603374773
|
|
NM_000719.7(CACNA1C):c.4185G>A (p.Arg1395=)
|
rs2153668917
|
|
NM_000719.7(CACNA1C):c.4188C>T (p.Asn1396=)
|
rs2153668929
|
|
NM_000719.7(CACNA1C):c.4215C>G (p.Ala1405=)
|
|
|
NM_000719.7(CACNA1C):c.4219C>T (p.Leu1407=)
|
|
|
NM_000719.7(CACNA1C):c.4232+11G>A
|
rs2153669098
|
|
NM_000719.7(CACNA1C):c.4232+18T>G
|
rs779157902
|
|
NM_000719.7(CACNA1C):c.4232+9C>G
|
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NM_000719.7(CACNA1C):c.4233-12C>G
|
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|
NM_000719.7(CACNA1C):c.4233-16T>C
|
|
|
NM_000719.7(CACNA1C):c.4233-5T>G
|
rs1407708004
|
|
NM_000719.7(CACNA1C):c.4233-6C>A
|
rs1377204108
|
|
NM_000719.7(CACNA1C):c.4233-9C>G
|
|
|
NM_000719.7(CACNA1C):c.4290G>A (p.Lys1430=)
|
|
|
NM_000719.7(CACNA1C):c.4302G>A (p.Glu1434=)
|
rs2153706773
|
|
NM_000719.7(CACNA1C):c.4329T>C (p.Gly1443=)
|
|
|
NM_000719.7(CACNA1C):c.4349G>A (p.Ser1450Asn)
|
rs1009822245
|
|
NM_000719.7(CACNA1C):c.4389T>C (p.Cys1463=)
|
rs1060504918
|
|
NM_000719.7(CACNA1C):c.4398+12G>A
|
|
|
NM_000719.7(CACNA1C):c.4398+17C>T
|
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|
NM_000719.7(CACNA1C):c.4399-8C>T
|
|
|
NM_000719.7(CACNA1C):c.4410C>G (p.Leu1470=)
|
rs2153709475
|
|
NM_000719.7(CACNA1C):c.4416A>G (p.Val1472=)
|
|
|
NM_000719.7(CACNA1C):c.4446G>C (p.Leu1482=)
|
rs2153709538
|
|
NM_000719.7(CACNA1C):c.444A>G (p.Pro148=)
|
|
|
NM_000719.7(CACNA1C):c.4479C>T (p.His1493=)
|
|
|
NM_000719.7(CACNA1C):c.447A>G (p.Glu149=)
|
rs1297869395
|
|
NM_000719.7(CACNA1C):c.4488G>A (p.Glu1496=)
|
rs2153709581
|
|
NM_000719.7(CACNA1C):c.450T>C (p.Asp150=)
|
rs2086035884
|
|
NM_000719.7(CACNA1C):c.4515C>T (p.Asp1505=)
|
|
|
NM_000719.7(CACNA1C):c.4526+9C>G
|
rs1473029850
|
|
NM_000719.7(CACNA1C):c.4527-14C>T
|
rs769815718
|
|
NM_000719.7(CACNA1C):c.4527-6T>C
|
rs1239248123
|
|
NM_000719.7(CACNA1C):c.4527-7C>T
|
rs1057522340
|
|
NM_000719.7(CACNA1C):c.4527-9C>G
|
|
|
NM_000719.7(CACNA1C):c.4533T>A (p.Arg1511=)
|
|
|
NM_000719.7(CACNA1C):c.4533T>C (p.Arg1511=)
|
rs1060504920
|
|
NM_000719.7(CACNA1C):c.456C>T (p.Ser152=)
|
rs776532518
|
|
NM_000719.7(CACNA1C):c.4582C>T (p.Leu1528=)
|
rs2153713290
|
|
NM_000719.7(CACNA1C):c.4623+12C>T
|
|
|
NM_000719.7(CACNA1C):c.4623+16G>A
|
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|
NM_000719.7(CACNA1C):c.4623+16G>T
|
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NM_000719.7(CACNA1C):c.4623+20A>G
|
rs1440822075
|
|
NM_000719.7(CACNA1C):c.4623+20A>T
|
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|
NM_000719.7(CACNA1C):c.4623+9T>C
|
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|
NM_000719.7(CACNA1C):c.4623+9_4623+10del
|
rs1415722013
|
|
NM_000719.7(CACNA1C):c.4624-19T>C
|
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|
NM_000719.7(CACNA1C):c.4624-4G>A
|
rs886049205
|
|
NM_000719.7(CACNA1C):c.4624-6del
|
rs2153728993
|
|
NM_000719.7(CACNA1C):c.4624-8G>T
|
rs529345041
|
|
NM_000719.7(CACNA1C):c.4632C>T (p.Val1544=)
|
|
|
NM_000719.7(CACNA1C):c.4653C>T (p.Asn1551=)
|
|
|
NM_000719.7(CACNA1C):c.4668C>T (p.Val1556=)
|
|
|
NM_000719.7(CACNA1C):c.4683C>T (p.Thr1561=)
|
rs1603435300
|
|
NM_000719.7(CACNA1C):c.4686G>A (p.Leu1562=)
|
|
|
NM_000719.7(CACNA1C):c.468T>C (p.Asn156=)
|
|
|
NM_000719.7(CACNA1C):c.4692C>A (p.Ala1564=)
|
|
|
NM_000719.7(CACNA1C):c.4692C>T (p.Ala1564=)
|
rs2153729290
|
|
NM_000719.7(CACNA1C):c.4708C>T (p.Leu1570=)
|
|
|
NM_000719.7(CACNA1C):c.4726+12C>G
|
rs531900229
|
|
NM_000719.7(CACNA1C):c.4726+13G>A
|
rs561365937
|
|
NM_000719.7(CACNA1C):c.4726+13G>T
|
|
|
NM_000719.7(CACNA1C):c.4726+15G>A
|
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NM_000719.7(CACNA1C):c.4726+19A>G
|
|
|
NM_000719.7(CACNA1C):c.4727-45C>T
|
|
|
NM_000719.7(CACNA1C):c.4727-6C>T
|
rs886042224
|
|
NM_000719.7(CACNA1C):c.4737A>G (p.Glu1579=)
|
|
|
NM_000719.7(CACNA1C):c.4743C>G (p.Ala1581=)
|
rs1053126937
|
|
NM_000719.7(CACNA1C):c.474C>T (p.Asn158=)
|
|
|
NM_000719.7(CACNA1C):c.4755G>A (p.Leu1585=)
|
|
|
NM_000719.7(CACNA1C):c.475C>T (p.Leu159=)
|
|
|
NM_000719.7(CACNA1C):c.4761G>A (p.Ala1587=)
|
rs756364065
|
|
NM_000719.7(CACNA1C):c.4761G>T (p.Ala1587=)
|
rs756364065
|
|
NM_000719.7(CACNA1C):c.477+11C>T
|
|
|
NM_000719.7(CACNA1C):c.477+15C>G
|
|
|
NM_000719.7(CACNA1C):c.477+17C>G
|
|
|
NM_000719.7(CACNA1C):c.477+17C>T
|
rs1418690794
|
|
NM_000719.7(CACNA1C):c.477+8C>T
|
rs763228787
|
|
NM_000719.7(CACNA1C):c.4776C>A (p.Ile1592=)
|
|
|
NM_000719.7(CACNA1C):c.478-10T>C
|
rs1414468096
|
|
NM_000719.7(CACNA1C):c.478-11_478-10del
|
rs750093371
|
|
NM_000719.7(CACNA1C):c.478-17C>T
|
|
|
NM_000719.7(CACNA1C):c.478-6T>G
|
rs769218160
|
|
NM_000719.7(CACNA1C):c.478-8T>C
|
|
|
NM_000719.7(CACNA1C):c.478-9G>A
|
rs1339837769
|
|
NM_000719.7(CACNA1C):c.4797G>A (p.Lys1599=)
|
rs2153756922
|
|
NM_000719.7(CACNA1C):c.481C>A (p.Arg161=)
|
|
|
NM_000719.7(CACNA1C):c.4821T>C (p.Pro1607=)
|
rs2096712361
|
|
NM_000719.7(CACNA1C):c.4828+16A>T
|
|
|
NM_000719.7(CACNA1C):c.4828+19C>G
|
|
|
NM_000719.7(CACNA1C):c.4829-14_4829-8del
|
rs2153787106
|
|
NM_000719.7(CACNA1C):c.4829-17C>G
|
|
|
NM_000719.7(CACNA1C):c.4829-17C>T
|
|
|
NM_000719.7(CACNA1C):c.4839C>A (p.Val1613=)
|
|
|
NM_000719.7(CACNA1C):c.483A>G (p.Arg161=)
|
|
|
NM_000719.7(CACNA1C):c.4842C>T (p.Thr1614=)
|
rs779550437
|
|
NM_000719.7(CACNA1C):c.4869G>T (p.Leu1623=)
|
|
|
NM_000719.7(CACNA1C):c.486G>A (p.Val162=)
|
rs1555599597
|
|
NM_000719.7(CACNA1C):c.4878G>A (p.Glu1626=)
|
rs2153787347
|
|
NM_000719.7(CACNA1C):c.4887G>A (p.Arg1629=)
|
rs768891783
|
|
NM_000719.7(CACNA1C):c.4893C>T (p.Phe1631=)
|
rs1388985790
|
|
NM_000719.7(CACNA1C):c.49+20C>T
|
|
|
NM_000719.7(CACNA1C):c.4908G>A (p.Glu1636=)
|
|
|
NM_000719.7(CACNA1C):c.4914C>T (p.Gly1638=)
|
rs2096865452
|
|
NM_000719.7(CACNA1C):c.4917T>C (p.Leu1639=)
|
rs886049206
|
|
NM_000719.7(CACNA1C):c.4923C>A (p.Gly1641=)
|
|
|
NM_000719.7(CACNA1C):c.4956+10T>G
|
rs1603448949
|
|
NM_000719.7(CACNA1C):c.4956+11G>C
|
|
|
NM_000719.7(CACNA1C):c.4956+12G>A
|
|
|
NM_000719.7(CACNA1C):c.4956+15G>A
|
|
|
NM_000719.7(CACNA1C):c.4956+18G>T
|
|
|
NM_000719.7(CACNA1C):c.4956+7G>A
|
|
|
NM_000719.7(CACNA1C):c.4957-20A>G
|
rs2153790979
|
|
NM_000719.7(CACNA1C):c.50-10T>G
|
rs2083369755
|
|
NM_000719.7(CACNA1C):c.50-14C>A
|
rs1195250797
|
|
NM_000719.7(CACNA1C):c.50-14C>G
|
|
|
NM_000719.7(CACNA1C):c.50-6C>T
|
|
|
NM_000719.7(CACNA1C):c.5034G>A (p.Glu1678=)
|
rs863224373
|
|
NM_000719.7(CACNA1C):c.5040C>T (p.Asp1680=)
|
|
|
NM_000719.7(CACNA1C):c.5043G>A (p.Lys1681=)
|
|
|
NM_000719.7(CACNA1C):c.5048T>C (p.Met1683Thr)
|
rs1231959976
|
|
NM_000719.7(CACNA1C):c.5060T>A (p.Val1687Glu)
|
|
|
NM_000719.7(CACNA1C):c.5088C>T (p.Phe1696=)
|
|
|
NM_000719.7(CACNA1C):c.5091+12C>T
|
|
|
NM_000719.7(CACNA1C):c.5091+14T>C
|
rs2153791607
|
|
NM_000719.7(CACNA1C):c.5091+18G>C
|
|
|
NM_000719.7(CACNA1C):c.5092-15_5092-14dup
|
|
|
NM_000719.7(CACNA1C):c.5092-19C>A
|
|
|
NM_000719.7(CACNA1C):c.5092-19C>T
|
rs2097014318
|
|
NM_000719.7(CACNA1C):c.5092-4A>G
|
rs764167894
|
|
NM_000719.7(CACNA1C):c.5092-4A>T
|
|
|
NM_000719.7(CACNA1C):c.5092-8G>T
|
|
|
NM_000719.7(CACNA1C):c.5133A>G (p.Gln1711=)
|
|
|
NM_000719.7(CACNA1C):c.5145G>C (p.Arg1715=)
|
rs761205516
|
|
NM_000719.7(CACNA1C):c.5151C>G (p.Ala1717=)
|
rs1292968645
|
|
NM_000719.7(CACNA1C):c.5172T>C (p.Thr1724=)
|
|
|
NM_000719.7(CACNA1C):c.5178C>T (p.Arg1726=)
|
rs2097020052
|
|
NM_000719.7(CACNA1C):c.5182C>T (p.Leu1728=)
|
rs1603450747
|
|
NM_000719.7(CACNA1C):c.5202C>G (p.Gly1734=)
|
rs769124319
|
|
NM_000719.7(CACNA1C):c.5213G>A (p.Gly1738Asp)
|
|
|
NM_000719.7(CACNA1C):c.5223G>A (p.Glu1741=)
|
rs1372760091
|
|
NM_000719.7(CACNA1C):c.5247G>A (p.Val1749=)
|
rs2153803500
|
|
NM_000719.7(CACNA1C):c.5271C>T (p.Ser1757=)
|
|
|
NM_000719.7(CACNA1C):c.5286C>G (p.Gly1762=)
|
rs748717675
|
|
NM_000719.7(CACNA1C):c.5295C>T (p.Ala1765=)
|
|
|
NM_000719.7(CACNA1C):c.5304C>T (p.Asn1768=)
|
|
|
NM_000719.7(CACNA1C):c.5321C>T (p.Ala1774Val)
|
|
|
NM_000719.7(CACNA1C):c.5322C>G (p.Ala1774=)
|
rs2097025327
|
|
NM_000719.7(CACNA1C):c.5323C>T (p.Leu1775=)
|
rs1603450804
|
|
NM_000719.7(CACNA1C):c.5325G>A (p.Leu1775=)
|
rs1049183237
|
|
NM_000719.7(CACNA1C):c.5334C>A (p.Leu1778=)
|
|
|
NM_000719.7(CACNA1C):c.5346C>G (p.Ala1782=)
|
rs369254461
|
|
NM_000719.7(CACNA1C):c.5346C>T (p.Ala1782=)
|
rs369254461
|
|
NM_000719.7(CACNA1C):c.5347G>A (p.Gly1783Ser)
|
|
|
NM_000719.7(CACNA1C):c.5355C>T (p.Pro1785=)
|
|
|
NM_000719.7(CACNA1C):c.537C>A (p.Ile179=)
|
|
|
NM_000719.7(CACNA1C):c.5385G>T (p.Gly1795=)
|
rs1569224830
|
|
NM_000719.7(CACNA1C):c.5407C>A (p.Arg1803=)
|
|
|
NM_000719.7(CACNA1C):c.5418G>A (p.Glu1806=)
|
|
|
NM_000719.7(CACNA1C):c.5423C>G (p.Ala1808Gly)
|
rs745997744
|
|
NM_000719.7(CACNA1C):c.5436C>T (p.Ser1812=)
|
|
|
NM_000719.7(CACNA1C):c.543T>C (p.Tyr181=)
|
|
|
NM_000719.7(CACNA1C):c.5444+13C>A
|
|
|
NM_000719.7(CACNA1C):c.5444+13C>T
|
|
|
NM_000719.7(CACNA1C):c.5444+20C>T
|
rs1233609944
|
|
NM_000719.7(CACNA1C):c.5445-4G>A
|
|
|
NM_000719.7(CACNA1C):c.5511T>C (p.Tyr1837=)
|
|
|
NM_000719.7(CACNA1C):c.5514A>G (p.Glu1838=)
|
|
|
NM_000719.7(CACNA1C):c.5520G>A (p.Lys1840=)
|
|
|
NM_000719.7(CACNA1C):c.5532C>T (p.Asp1844=)
|
rs1196232443
|
|
NM_000719.7(CACNA1C):c.5535G>T (p.Thr1845=)
|
rs746271719
|
|
NM_000719.7(CACNA1C):c.5538G>A (p.Glu1846=)
|
rs1603457634
|
|
NM_000719.7(CACNA1C):c.5547T>C (p.Ser1849=)
|
|
|
NM_000719.7(CACNA1C):c.5573+12T>C
|
rs2153818170
|
|
NM_000719.7(CACNA1C):c.5573+16C>T
|
|
|
NM_000719.7(CACNA1C):c.5573+8C>T
|
rs2153818145
|
|
NM_000719.7(CACNA1C):c.5574-16G>A
|
|
|
NM_000719.7(CACNA1C):c.5574-18A>G
|
|
|
NM_000719.7(CACNA1C):c.5577C>T (p.Leu1859=)
|
rs1193794181
|
|
NM_000719.7(CACNA1C):c.5580C>A (p.Ser1860=)
|
|
|
NM_000719.7(CACNA1C):c.558C>T (p.His186=)
|
rs1596540994
|
|
NM_000719.7(CACNA1C):c.5592C>T (p.Asp1864=)
|
rs748240245
|
|
NM_000719.7(CACNA1C):c.5598T>C (p.Asn1866=)
|
rs1202853506
|
|
NM_000719.7(CACNA1C):c.5676A>G (p.Ser1892=)
|
|
|
NM_000719.7(CACNA1C):c.5680+12G>C
|
|
|
NM_000719.7(CACNA1C):c.5680+12G>T
|
|
|
NM_000719.7(CACNA1C):c.5680+15C>G
|
|
|
NM_000719.7(CACNA1C):c.5680+16G>A
|
rs755308153
|
|
NM_000719.7(CACNA1C):c.5681-15T>C
|
|
|
NM_000719.7(CACNA1C):c.5701C>T (p.Leu1901=)
|
|
|
NM_000719.7(CACNA1C):c.5716C>A (p.Arg1906=)
|
|
|
NM_000719.7(CACNA1C):c.5739C>T (p.Asp1913=)
|
rs1391330801
|
|
NM_000719.7(CACNA1C):c.5751G>A (p.Lys1917=)
|
|
|
NM_000719.7(CACNA1C):c.5757C>T (p.Val1919=)
|
rs2153836239
|
|
NM_000719.7(CACNA1C):c.5769T>C (p.His1923=)
|
|
|
NM_000719.7(CACNA1C):c.5784+10A>T
|
|
|
NM_000719.7(CACNA1C):c.5784+8A>C
|
rs1603462720
|
|
NM_000719.7(CACNA1C):c.5785-10G>A
|
rs762376206
|
|
NM_000719.7(CACNA1C):c.5785-12G>A
|
|
|
NM_000719.7(CACNA1C):c.5785-19A>G
|
rs1603466626
|
|
NM_000719.7(CACNA1C):c.5785-20C>T
|
|
|
NM_000719.7(CACNA1C):c.5785-8G>A
|
rs2153864107
|
|
NM_000719.7(CACNA1C):c.5785-9T>C
|
rs2153864076
|
|
NM_000719.7(CACNA1C):c.5787A>C (p.Ala1929=)
|
rs2153864360
|
|
NM_000719.7(CACNA1C):c.5815C>G (p.Leu1939Val)
|
|
|
NM_000719.7(CACNA1C):c.5844C>T (p.Phe1948=)
|
|
|
NM_000719.7(CACNA1C):c.5852C>G (p.Pro1951Arg)
|
rs762896810
|
|
NM_000719.7(CACNA1C):c.5862C>G (p.Thr1954=)
|
rs945227847
|
|
NM_000719.7(CACNA1C):c.5862C>T (p.Thr1954=)
|
rs945227847
|
|
NM_000719.7(CACNA1C):c.5862_5873del (p.Pro1956_Pro1959del)
|
rs781559449
|
|
NM_000719.7(CACNA1C):c.5875C>T (p.Pro1959Ser)
|
rs755941724
|
|
NM_000719.7(CACNA1C):c.5884C>A (p.Arg1962=)
|
|
|
NM_000719.7(CACNA1C):c.5914C>T (p.Leu1972=)
|
|
|
NM_000719.7(CACNA1C):c.5917C>A (p.Arg1973=)
|
rs774402582
|
|
NM_000719.7(CACNA1C):c.5928G>C (p.Gly1976=)
|
rs763979736
|
|
NM_000719.7(CACNA1C):c.592C>T (p.Leu198=)
|
|
|
NM_000719.7(CACNA1C):c.5949C>T (p.Leu1983=)
|
|
|
NM_000719.7(CACNA1C):c.5976C>G (p.Cys1992Trp)
|
|
|
NM_000719.7(CACNA1C):c.5979C>T (p.Gly1993=)
|
|
|
NM_000719.7(CACNA1C):c.5991G>A (p.Glu1997=)
|
|
|
NM_000719.7(CACNA1C):c.5994C>G (p.Thr1998=)
|
rs1296936169
|
|
NM_000719.7(CACNA1C):c.5997C>T (p.Thr1999=)
|
rs1291561787
|
|
NM_000719.7(CACNA1C):c.59A>G (p.Tyr20Cys)
|
|
|
NM_000719.7(CACNA1C):c.6009G>A (p.Gly2003=)
|
rs1211444440
|
|
NM_000719.7(CACNA1C):c.6012C>T (p.Gly2004=)
|
|
|
NM_000719.7(CACNA1C):c.6025C>A (p.Arg2009=)
|
|
|
NM_000719.7(CACNA1C):c.6029G>T (p.Arg2010Ile)
|
|
|
NM_000719.7(CACNA1C):c.6034C>A (p.Arg2012=)
|
rs553500083
|
|
NM_000719.7(CACNA1C):c.6035G>A (p.Arg2012Gln)
|
rs772606843
|
|
NM_000719.7(CACNA1C):c.6039C>G (p.Pro2013=)
|
|
|
NM_000719.7(CACNA1C):c.603A>C (p.Ile201=)
|
rs2154562882
|
|
NM_000719.7(CACNA1C):c.6042C>T (p.Val2014=)
|
|
|
NM_000719.7(CACNA1C):c.6057C>T (p.Pro2019=)
|
rs1556311718
|
|
NM_000719.7(CACNA1C):c.6072C>A (p.Ala2024=)
|
|
|
NM_000719.7(CACNA1C):c.6081G>A (p.Arg2027=)
|
|
|
NM_000719.7(CACNA1C):c.6084G>T (p.Gln2028His)
|
rs767141738
|
|
NM_000719.7(CACNA1C):c.6087C>T (p.Phe2029=)
|
rs779215492
|
|
NM_000719.7(CACNA1C):c.60T>C (p.Tyr20=)
|
rs781275687
|
|
NM_000719.7(CACNA1C):c.6105C>T (p.Ser2035=)
|
rs2153867848
|
|
NM_000719.7(CACNA1C):c.6117+13C>T
|
|
|
NM_000719.7(CACNA1C):c.6117+15G>A
|
rs1434693338
|
|
NM_000719.7(CACNA1C):c.6118-10G>T
|
rs1307865315
|
|
NM_000719.7(CACNA1C):c.6118-11C>G
|
|
|
NM_000719.7(CACNA1C):c.6118-11C>T
|
rs551289807
|
|
NM_000719.7(CACNA1C):c.6118-14C>T
|
rs2153890795
|
|
NM_000719.7(CACNA1C):c.6118-15_6118-11dup
|
|
|
NM_000719.7(CACNA1C):c.6118-9C>A
|
rs1205417714
|
|
NM_000719.7(CACNA1C):c.612T>G (p.Val204=)
|
|
|
NM_000719.7(CACNA1C):c.615G>A (p.Val205=)
|
rs747320984
|
|
NM_000719.7(CACNA1C):c.6168C>T (p.Ile2056=)
|
|
|
NM_000719.7(CACNA1C):c.6169G>A (p.Glu2057Lys)
|
rs755553231
|
|
NM_000719.7(CACNA1C):c.617+15C>T
|
|
|
NM_000719.7(CACNA1C):c.617+15_617+18del
|
|
|
NM_000719.7(CACNA1C):c.618-12C>A
|
|
|
NM_000719.7(CACNA1C):c.618-6T>G
|
rs2154564923
|
|
NM_000719.7(CACNA1C):c.618-7C>A
|
rs2154564922
|
|
NM_000719.7(CACNA1C):c.6187C>T (p.Leu2063=)
|
rs1603473212
|
|
NM_000719.7(CACNA1C):c.6201C>T (p.Cys2067=)
|
|
|
NM_000719.7(CACNA1C):c.6204C>A (p.Asp2068Glu)
|
|
|
NM_000719.7(CACNA1C):c.6204C>T (p.Asp2068=)
|
|
|
NM_000719.7(CACNA1C):c.621T>C (p.Leu207=)
|
rs2099443384
|
|
NM_000719.7(CACNA1C):c.6228C>A (p.Ser2076Arg)
|
|
|
NM_000719.7(CACNA1C):c.6231G>A (p.Ala2077=)
|
rs772093926
|
|
NM_000719.7(CACNA1C):c.6249C>T (p.Ser2083=)
|
|
|
NM_000719.7(CACNA1C):c.624T>C (p.Phe208=)
|
|
|
NM_000719.7(CACNA1C):c.6252G>A (p.Gly2084=)
|
|
|
NM_000719.7(CACNA1C):c.6255C>T (p.Gly2085=)
|
|
|
NM_000719.7(CACNA1C):c.6258C>A (p.Ala2086=)
|
|
|
NM_000719.7(CACNA1C):c.6267C>T (p.Ser2089=)
|
rs766626036
|
|
NM_000719.7(CACNA1C):c.6270C>A (p.Pro2090=)
|
rs1060504921
|
|
NM_000719.7(CACNA1C):c.6275G>A (p.Gly2092Asp)
|
rs755430543
|
|
NM_000719.7(CACNA1C):c.6275G>C (p.Gly2092Ala)
|
rs755430543
|
|
NM_000719.7(CACNA1C):c.6276C>A (p.Gly2092=)
|
rs1556333950
|
|
NM_000719.7(CACNA1C):c.6279C>G (p.Ala2093=)
|
|
|
NM_000719.7(CACNA1C):c.6282C>T (p.Leu2094=)
|
|
|
NM_000719.7(CACNA1C):c.6294G>T (p.Val2098=)
|
|
|
NM_000719.7(CACNA1C):c.630A>G (p.Ala210=)
|
|
|
NM_000719.7(CACNA1C):c.6315G>A (p.Gln2105=)
|
rs1051555434
|
|
NM_000719.7(CACNA1C):c.6324C>G (p.Ala2108=)
|
rs757538773
|
|
NM_000719.7(CACNA1C):c.6345C>T (p.Gly2115=)
|
|
|
NM_000719.7(CACNA1C):c.6351G>A (p.Val2117=)
|
rs761353690
|
|
NM_000719.7(CACNA1C):c.6352C>T (p.Arg2118Cys)
|
|
|
NM_000719.7(CACNA1C):c.6354C>A (p.Arg2118=)
|
rs774577016
|
|
NM_000719.7(CACNA1C):c.6369G>T (p.Pro2123=)
|
|
|
NM_000719.7(CACNA1C):c.6384C>G (p.Leu2128=)
|
|
|
NM_000719.7(CACNA1C):c.6391A>G (p.Ser2131Gly)
|
|
|
NM_000719.7(CACNA1C):c.6394A>C (p.Arg2132=)
|
|
|
NM_000719.7(CACNA1C):c.6399C>G (p.Val2133=)
|
rs2153892722
|
|
NM_000719.7(CACNA1C):c.6405C>T (p.Val2135=)
|
rs2153892738
|
|
NM_000719.7(CACNA1C):c.645A>C (p.Ala215=)
|
rs2154564926
|
|
NM_000719.7(CACNA1C):c.645A>G (p.Ala215=)
|
|
|
NM_000719.7(CACNA1C):c.667G>A (p.Ala223Thr)
|
|
|
NM_000719.7(CACNA1C):c.669T>C (p.Ala223=)
|
rs1596886599
|
|
NM_000719.7(CACNA1C):c.672C>A (p.Leu224=)
|
rs868024886
|
|
NM_000719.7(CACNA1C):c.69A>C (p.Pro23=)
|
rs2154136816
|
|
NM_000719.7(CACNA1C):c.69A>G (p.Pro23=)
|
rs2154136816
|
|
NM_000719.7(CACNA1C):c.714C>A (p.Ala238=)
|
|
|
NM_000719.7(CACNA1C):c.726G>T (p.Leu242=)
|
|
|
NM_000719.7(CACNA1C):c.732C>A (p.Pro244=)
|
|
|
NM_000719.7(CACNA1C):c.741G>C (p.Leu247=)
|
rs2154564935
|
|
NM_000719.7(CACNA1C):c.747C>T (p.Ser249=)
|
rs761910114
|
|
NM_000719.7(CACNA1C):c.756A>G (p.Pro252=)
|
rs2099444592
|
|
NM_000719.7(CACNA1C):c.757+11C>T
|
rs762620118
|
|
NM_000719.7(CACNA1C):c.757+14G>A
|
rs753042094
|
|
NM_000719.7(CACNA1C):c.757+17C>A
|
|
|
NM_000719.7(CACNA1C):c.758-16G>A
|
|
|
NM_000719.7(CACNA1C):c.758-4G>A
|
|
|
NM_000719.7(CACNA1C):c.758-5C>T
|
|
|
NM_000719.7(CACNA1C):c.758-7C>G
|
|
|
NM_000719.7(CACNA1C):c.758-8C>T
|
rs1597759154
|
|
NM_000719.7(CACNA1C):c.777T>C (p.Asn259=)
|
rs1433280046
|
|
NM_000719.7(CACNA1C):c.786C>T (p.Ile262=)
|
|
|
NM_000719.7(CACNA1C):c.798C>A (p.Val266=)
|
|
|
NM_000719.7(CACNA1C):c.817C>T (p.Leu273=)
|
|
|
NM_000719.7(CACNA1C):c.852C>T (p.Ile284=)
|
rs2154570577
|
|
NM_000719.7(CACNA1C):c.876G>A (p.Gly292=)
|
rs2154570585
|
|
NM_000719.7(CACNA1C):c.885C>T (p.His295=)
|
|
|
NM_000719.7(CACNA1C):c.916+10G>A
|
|
|
NM_000719.7(CACNA1C):c.916+8G>A
|
rs2154570594
|
|
NM_000719.7(CACNA1C):c.916+9G>A
|
|
|
NM_000719.7(CACNA1C):c.917-15T>C
|
|
|
NM_000719.7(CACNA1C):c.917-16C>T
|
rs2154571822
|
|
NM_000719.7(CACNA1C):c.917-8C>T
|
|
|
NM_000719.7(CACNA1C):c.930A>G (p.Glu310=)
|
|
|
NM_000719.7(CACNA1C):c.951G>A (p.Ala317=)
|
rs373875149
|
|
NM_000719.7(CACNA1C):c.974A>G (p.Gln325Arg)
|
|
|
NM_000890.5(KCNJ5):c.1026C>T (p.Gly342=)
|
|
|
NM_000890.5(KCNJ5):c.1071C>T (p.Thr357=)
|
rs1159900612
|
|
NM_000890.5(KCNJ5):c.1098G>A (p.Glu366=)
|
|
|
NM_000890.5(KCNJ5):c.1161G>C (p.Gly387=)
|
rs2136004112
|
|
NM_000890.5(KCNJ5):c.1194T>C (p.Ala398=)
|
|
|
NM_000890.5(KCNJ5):c.1200G>A (p.Gln400=)
|
|
|
NM_000890.5(KCNJ5):c.1227G>C (p.Leu409=)
|
|
|
NM_000890.5(KCNJ5):c.1237A>C (p.Arg413=)
|
|
|
NM_000890.5(KCNJ5):c.123C>T (p.Arg41=)
|
|
|
NM_000890.5(KCNJ5):c.1245C>G (p.Ala415=)
|
rs919890581
|
|
NM_000890.5(KCNJ5):c.1248G>A (p.Arg416=)
|
|
|
NM_000890.5(KCNJ5):c.132C>T (p.Ala44=)
|
rs757867512
|
|
NM_000890.5(KCNJ5):c.204G>A (p.Gln68=)
|
rs1735429450
|
|
NM_000890.5(KCNJ5):c.246G>A (p.Val82=)
|
|
|
NM_000890.5(KCNJ5):c.276C>G (p.Val92=)
|
rs1944499040
|
|
NM_000890.5(KCNJ5):c.297C>T (p.Val99=)
|
|
|
NM_000890.5(KCNJ5):c.330C>T (p.Leu110=)
|
rs762272154
|
|
NM_000890.5(KCNJ5):c.411G>A (p.Val137=)
|
|
|
NM_000890.5(KCNJ5):c.597C>T (p.Thr199=)
|
rs2135999272
|
|
NM_000890.5(KCNJ5):c.636C>T (p.Asp212=)
|
|
|
NM_000890.5(KCNJ5):c.666C>A (p.Gly222=)
|
|
|
NM_000890.5(KCNJ5):c.741G>A (p.Gly247=)
|
|
|
NM_000890.5(KCNJ5):c.741G>C (p.Gly247=)
|
|
|
NM_000890.5(KCNJ5):c.774C>T (p.Asn258=)
|
|
|
NM_000890.5(KCNJ5):c.789G>A (p.Thr263=)
|
|
|
NM_000890.5(KCNJ5):c.810T>A (p.Leu270=)
|
|
|
NM_000890.5(KCNJ5):c.810T>C (p.Leu270=)
|
rs7118824
|
|
NM_000890.5(KCNJ5):c.813G>T (p.Val271=)
|
|
|
NM_000890.5(KCNJ5):c.828C>A (p.Ile276=)
|
|
|
NM_000890.5(KCNJ5):c.843_844delinsTG (p.Gln282Glu)
|
rs1060503834
|
|
NM_000890.5(KCNJ5):c.849G>A (p.Lys283=)
|
|
|
NM_000890.5(KCNJ5):c.880C>T (p.Leu294=)
|
rs2135999678
|
|
NM_000890.5(KCNJ5):c.938-11_938-10delinsTA
|
rs2136003778
|
|
NM_000890.5(KCNJ5):c.938-13T>G
|
rs2136003773
|
|
NM_000890.5(KCNJ5):c.938-20T>C
|
|
|
NM_000890.5(KCNJ5):c.966C>T (p.Tyr322=)
|
|
|
NM_000890.5(KCNJ5):c.96T>A (p.Tyr32Ter)
|
|
|
NM_000890.5(KCNJ5):c.96T>C (p.Tyr32=)
|
rs767651199
|
|
NM_000890.5(KCNJ5):c.9C>T (p.Gly3=)
|
|
|
NM_000891.3(KCNJ2):c.1005C>T (p.His335=)
|
rs2144377784
|
|
NM_000891.3(KCNJ2):c.102G>A (p.Lys34=)
|
rs1476737505
|
|
NM_000891.3(KCNJ2):c.1053C>T (p.Pro351=)
|
rs2144377840
|
|
NM_000891.3(KCNJ2):c.1056C>T (p.Asn352=)
|
rs1473243559
|
|
NM_000891.3(KCNJ2):c.1086A>G (p.Ala362=)
|
|
|
NM_000891.3(KCNJ2):c.1179A>G (p.Gly393=)
|
|
|
NM_000891.3(KCNJ2):c.1206G>T (p.Thr402=)
|
rs1279223538
|
|
NM_000891.3(KCNJ2):c.1215C>T (p.Asp405=)
|
rs863224374
|
|
NM_000891.3(KCNJ2):c.1248A>G (p.Leu416=)
|
|
|
NM_000891.3(KCNJ2):c.1254C>A (p.Pro418=)
|
|
|
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=)
|
rs748445140
|
|
NM_000891.3(KCNJ2):c.1260C>G (p.Pro420=)
|
rs1257779655
|
|
NM_000891.3(KCNJ2):c.126G>A (p.Gln42=)
|
rs2144376459
|
|
NM_000891.3(KCNJ2):c.186T>C (p.Gly62=)
|
rs2144376552
|
|
NM_000891.3(KCNJ2):c.18C>A (p.Thr6=)
|
rs2144376313
|
|
NM_000891.3(KCNJ2):c.207C>G (p.Leu69=)
|
rs1007358932
|
|
NM_000891.3(KCNJ2):c.207C>T (p.Leu69=)
|
|
|
NM_000891.3(KCNJ2):c.225G>T (p.Thr75=)
|
|
|
NM_000891.3(KCNJ2):c.234C>T (p.Asp78=)
|
|
|
NM_000891.3(KCNJ2):c.244C>A (p.Arg82=)
|
|
|
NM_000891.3(KCNJ2):c.246G>A (p.Arg82=)
|
|
|
NM_000891.3(KCNJ2):c.285A>T (p.Ser95=)
|
rs1388829981
|
|
NM_000891.3(KCNJ2):c.297T>C (p.Phe99=)
|
|
|
NM_000891.3(KCNJ2):c.306G>C (p.Val102=)
|
rs2144376790
|
|
NM_000891.3(KCNJ2):c.321T>C (p.Ala107=)
|
rs2074386434
|
|
NM_000891.3(KCNJ2):c.322C>T (p.Leu108=)
|
rs371331394
|
|
NM_000891.3(KCNJ2):c.324G>A (p.Leu108=)
|
rs900684102
|
|
NM_000891.3(KCNJ2):c.333G>A (p.Gly111=)
|
rs2144376829
|
|
NM_000891.3(KCNJ2):c.402C>T (p.Leu134=)
|
|
|
NM_000891.3(KCNJ2):c.417C>A (p.Thr139=)
|
|
|
NM_000891.3(KCNJ2):c.417C>T (p.Thr139=)
|
|
|
NM_000891.3(KCNJ2):c.426C>G (p.Thr142=)
|
|
|
NM_000891.3(KCNJ2):c.42A>G (p.Ser14=)
|
rs2144376348
|
|
NM_000891.3(KCNJ2):c.453G>C (p.Thr151=)
|
|
|
NM_000891.3(KCNJ2):c.489C>T (p.Phe163=)
|
|
|
NM_000891.3(KCNJ2):c.48A>G (p.Glu16=)
|
rs1470684052
|
|
NM_000891.3(KCNJ2):c.510C>T (p.Ile170=)
|
|
|
NM_000891.3(KCNJ2):c.531C>A (p.Gly177=)
|
|
|
NM_000891.3(KCNJ2):c.564G>A (p.Lys188=)
|
|
|
NM_000891.3(KCNJ2):c.585C>T (p.Phe195=)
|
|
|
NM_000891.3(KCNJ2):c.591C>T (p.His197=)
|
|
|
NM_000891.3(KCNJ2):c.615C>T (p.Asp205=)
|
rs767844416
|
|
NM_000891.3(KCNJ2):c.684A>C (p.Arg228=)
|
rs758144475
|
|
NM_000891.3(KCNJ2):c.690G>A (p.Gln230=)
|
rs2074388781
|
|
NM_000891.3(KCNJ2):c.696C>T (p.Leu232=)
|
|
|
NM_000891.3(KCNJ2):c.699A>G (p.Lys233=)
|
|
|
NM_000891.3(KCNJ2):c.6C>T (p.Gly2=)
|
|
|
NM_000891.3(KCNJ2):c.723G>A (p.Glu241=)
|
|
|
NM_000891.3(KCNJ2):c.762T>C (p.Phe254=)
|
|
|
NM_000891.3(KCNJ2):c.774C>T (p.Ile258=)
|
rs1057524125
|
|
NM_000891.3(KCNJ2):c.789G>C (p.Leu263=)
|
|
|
NM_000891.3(KCNJ2):c.792G>A (p.Val264=)
|
rs2144377441
|
|
NM_000891.3(KCNJ2):c.795C>T (p.Ser265=)
|
rs1381202025
|
|
NM_000891.3(KCNJ2):c.810C>T (p.Val270=)
|
rs1049263340
|
|
NM_000891.3(KCNJ2):c.828C>T (p.Asp276=)
|
|
|
NM_000891.3(KCNJ2):c.849T>C (p.Ser283=)
|
rs2074389639
|
|
NM_000891.3(KCNJ2):c.864C>T (p.Asp288=)
|
rs2144377560
|
|
NM_000891.3(KCNJ2):c.87C>A (p.Gly29=)
|
rs1027878057
|
|
NM_000891.3(KCNJ2):c.885G>A (p.Val295=)
|
|
|
NM_000891.3(KCNJ2):c.93G>A (p.Gly31=)
|
|
|
NM_000891.3(KCNJ2):c.993T>C (p.Phe331=)
|
|
|
NM_000891.3(KCNJ2):c.999G>A (p.Glu333=)
|
rs2144377764
|
|
NM_001106.4(ACVR2B):c.1075-19C>T
|
|
|
NM_001106.4(ACVR2B):c.1080C>T (p.Gly360=)
|
|
|
NM_001106.4(ACVR2B):c.1179G>T (p.Leu393=)
|
rs1710030723
|
|
NM_001106.4(ACVR2B):c.1287G>A (p.Glu429=)
|
|
|
NM_001106.4(ACVR2B):c.1530A>G (p.Ser510=)
|
|
|
NM_001106.4(ACVR2B):c.1536C>T (p.Ile512=)
|
|
|
NM_001106.4(ACVR2B):c.260+12C>T
|
|
|
NM_001106.4(ACVR2B):c.261-8G>A
|
rs971663776
|
|
NM_001106.4(ACVR2B):c.351A>G (p.Pro117=)
|
rs1709941256
|
|
NM_001106.4(ACVR2B):c.371-9G>C
|
rs374269276
|
|
NM_001106.4(ACVR2B):c.420C>T (p.Ala140=)
|
|
|
NM_001106.4(ACVR2B):c.507T>C (p.His169=)
|
|
|
NM_001106.4(ACVR2B):c.510G>C (p.Val170=)
|
|
|
NM_001106.4(ACVR2B):c.52+8C>T
|
rs1353190405
|
|
NM_001106.4(ACVR2B):c.702C>T (p.Phe234=)
|
|
|
NM_001106.4(ACVR2B):c.981A>G (p.Val327=)
|
|
|
NM_001106.4(ACVR2B):c.9G>A (p.Ala3=)
|
|
|
NM_001136271.3(NKX2-6):c.156G>T (p.Gly52=)
|
|
|
NM_001136271.3(NKX2-6):c.196A>C (p.Lys66Gln)
|
rs545394251
|
|
NM_001136271.3(NKX2-6):c.291G>A (p.Ala97=)
|
|
|
NM_001136271.3(NKX2-6):c.29C>G (p.Pro10Arg)
|
rs747477274
|
|
NM_001136271.3(NKX2-6):c.359G>C (p.Arg120Pro)
|
rs61743032
|
|
NM_001136271.3(NKX2-6):c.368G>A (p.Arg123His)
|
rs568127693
|
|
NM_001136271.3(NKX2-6):c.381C>G (p.Pro127=)
|
|
|
NM_001136271.3(NKX2-6):c.516G>A (p.Thr172=)
|
rs2117594368
|
|
NM_001136271.3(NKX2-6):c.67C>A (p.Arg23=)
|
|
|
NM_001136271.3(NKX2-6):c.771C>G (p.Gly257=)
|
rs773766949
|
|
NM_001136271.3(NKX2-6):c.771C>T (p.Gly257=)
|
|
|
NM_001136271.3(NKX2-6):c.780C>T (p.Tyr260=)
|
|
|
NM_001136271.3(NKX2-6):c.801T>C (p.Pro267=)
|
|
|
NM_001136271.3(NKX2-6):c.867C>T (p.Gly289=)
|
rs1554510734
|
|
NM_001148.6(ANK2):c.10023A>G (p.Glu3341=)
|
rs2154030257
|
|
NM_001148.6(ANK2):c.10026A>C (p.Ala3342=)
|
|
|
NM_001148.6(ANK2):c.10050C>T (p.Val3350=)
|
|
|
NM_001148.6(ANK2):c.10080G>A (p.Gln3360=)
|
rs1214575789
|
|
NM_001148.6(ANK2):c.10296C>G (p.Ala3432=)
|
rs2154030868
|
|
NM_001148.6(ANK2):c.10362G>T (p.Arg3454Ser)
|
rs55726422
|
|
NM_001148.6(ANK2):c.10383A>G (p.Lys3461=)
|
|
|
NM_001148.6(ANK2):c.10476G>A (p.Leu3492=)
|
|
|
NM_001148.6(ANK2):c.10512C>T (p.Asp3504=)
|
|
|
NM_001148.6(ANK2):c.1056A>G (p.Leu352=)
|
|
|
NM_001148.6(ANK2):c.10608G>A (p.Arg3536=)
|
rs919212543
|
|
NM_001148.6(ANK2):c.10632G>A (p.Glu3544=)
|
rs114891456
|
|
NM_001148.6(ANK2):c.10681+16C>T
|
|
|
NM_001148.6(ANK2):c.10682-20C>T
|
|
|
NM_001148.6(ANK2):c.10682-8T>C
|
rs2154036877
|
|
NM_001148.6(ANK2):c.10702C>A (p.Arg3568=)
|
rs72556376
|
|
NM_001148.6(ANK2):c.10707C>A (p.Ile3569=)
|
rs539298479
|
|
NM_001148.6(ANK2):c.10737C>T (p.His3579=)
|
rs2096173164
|
|
NM_001148.6(ANK2):c.10757-6T>G
|
rs1554578788
|
|
NM_001148.6(ANK2):c.10779C>T (p.Phe3593=)
|
|
|
NM_001148.6(ANK2):c.10791A>G (p.Gln3597=)
|
|
|
NM_001148.6(ANK2):c.10800A>G (p.Gln3600=)
|
rs770882355
|
|
NM_001148.6(ANK2):c.10863A>G (p.Leu3621=)
|
rs2154047631
|
|
NM_001148.6(ANK2):c.10888+17A>G
|
rs2154047844
|
|
NM_001148.6(ANK2):c.10888+9G>A
|
|
|
NM_001148.6(ANK2):c.10889-12C>T
|
|
|
NM_001148.6(ANK2):c.10889-20C>G
|
|
|
NM_001148.6(ANK2):c.10889-6T>C
|
|
|
NM_001148.6(ANK2):c.10889-7G>A
|
rs2154052597
|
|
NM_001148.6(ANK2):c.108C>T (p.Leu36=)
|
|
|
NM_001148.6(ANK2):c.10959A>G (p.Thr3653=)
|
|
|
NM_001148.6(ANK2):c.1095C>T (p.Tyr365=)
|
rs1057521408
|
|
NM_001148.6(ANK2):c.10976G>A (p.Arg3659His)
|
rs556640912
|
|
NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu)
|
rs556640912
|
|
NM_001148.6(ANK2):c.11004A>G (p.Glu3668=)
|
rs771352067
|
|
NM_001148.6(ANK2):c.11032+19_11032+20del
|
rs775672634
|
|
NM_001148.6(ANK2):c.11032+19_11032+22del
|
rs772253914
|
|
NM_001148.6(ANK2):c.11032+19_11032+24del
|
rs746130839
|
|
NM_001148.6(ANK2):c.11032+19_11032+28del
|
|
|
NM_001148.6(ANK2):c.11032+20TG[10]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[11]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[19]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[20]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[21]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[22]
|
|
|
NM_001148.6(ANK2):c.11032+20TG[7]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+20TG[9]
|
rs34201791
|
|
NM_001148.6(ANK2):c.11032+4_11032+7dup
|
|
|
NM_001148.6(ANK2):c.11032+8TG[4]
|
rs749676836
|
|
NM_001148.6(ANK2):c.11064T>C (p.Thr3688=)
|
|
|
NM_001148.6(ANK2):c.11088G>A (p.Glu3696=)
|
rs2154060249
|
|
NM_001148.6(ANK2):c.11151T>A (p.Ile3717=)
|
rs1216705074
|
|
NM_001148.6(ANK2):c.11196G>A (p.Glu3732=)
|
|
|
NM_001148.6(ANK2):c.11211A>G (p.Ala3737=)
|
|
|
NM_001148.6(ANK2):c.11280G>A (p.Leu3760=)
|
rs769085254
|
|
NM_001148.6(ANK2):c.11318+12A>G
|
|
|
NM_001148.6(ANK2):c.11318+15A>C
|
|
|
NM_001148.6(ANK2):c.11318+18G>T
|
|
|
NM_001148.6(ANK2):c.11319-16G>T
|
rs2154065644
|
|
NM_001148.6(ANK2):c.11319-20A>G
|
|
|
NM_001148.6(ANK2):c.11373C>T (p.Pro3791=)
|
rs1252658200
|
|
NM_001148.6(ANK2):c.11436C>G (p.Leu3812=)
|
rs1057524537
|
|
NM_001148.6(ANK2):c.11442C>T (p.Thr3814=)
|
rs767815065
|
|
NM_001148.6(ANK2):c.11586C>G (p.Leu3862=)
|
|
|
NM_001148.6(ANK2):c.11611-6G>C
|
|
|
NM_001148.6(ANK2):c.11661C>T (p.Tyr3887=)
|
rs1476306807
|
|
NM_001148.6(ANK2):c.11688A>G (p.Val3896=)
|
rs2096800806
|
|
NM_001148.6(ANK2):c.11694+11G>T
|
|
|
NM_001148.6(ANK2):c.11695-4dup
|
|
|
NM_001148.6(ANK2):c.11695-7A>G
|
|
|
NM_001148.6(ANK2):c.11724A>G (p.Val3908=)
|
|
|
NM_001148.6(ANK2):c.1173G>T (p.Pro391=)
|
rs755621902
|
|
NM_001148.6(ANK2):c.11844C>T (p.Asp3948=)
|
|
|
NM_001148.6(ANK2):c.11847C>G (p.Thr3949=)
|
rs771225003
|
|
NM_001148.6(ANK2):c.11859+10C>A
|
|
|
NM_001148.6(ANK2):c.11859+10C>T
|
rs769280185
|
|
NM_001148.6(ANK2):c.11859+19C>G
|
|
|
NM_001148.6(ANK2):c.11860-11C>T
|
|
|
NM_001148.6(ANK2):c.1188+14A>T
|
rs2153626902
|
|
NM_001148.6(ANK2):c.1188+18C>T
|
rs2049052876
|
|
NM_001148.6(ANK2):c.1188+8T>G
|
|
|
NM_001148.6(ANK2):c.1189-17G>A
|
rs756680317
|
|
NM_001148.6(ANK2):c.1203A>G (p.Pro401=)
|
|
|
NM_001148.6(ANK2):c.1293C>A (p.Gly431=)
|
rs369287939
|
|
NM_001148.6(ANK2):c.1386+18C>T
|
|
|
NM_001148.6(ANK2):c.1387-19G>A
|
|
|
NM_001148.6(ANK2):c.1387-19G>T
|
|
|
NM_001148.6(ANK2):c.1387-4G>A
|
|
|
NM_001148.6(ANK2):c.1389T>C (p.Arg463=)
|
rs945947703
|
|
NM_001148.6(ANK2):c.1398G>A (p.Thr466=)
|
|
|
NM_001148.6(ANK2):c.1417C>A (p.Arg473=)
|
rs864622760
|
|
NM_001148.6(ANK2):c.1450C>T (p.Leu484=)
|
|
|
NM_001148.6(ANK2):c.1539C>T (p.Val513=)
|
rs1193723935
|
|
NM_001148.6(ANK2):c.1584A>C (p.Thr528=)
|
|
|
NM_001148.6(ANK2):c.1608C>A (p.Ile536=)
|
|
|
NM_001148.6(ANK2):c.1614C>T (p.Ala538=)
|
rs2153688749
|
|
NM_001148.6(ANK2):c.1620G>A (p.Glu540=)
|
|
|
NM_001148.6(ANK2):c.1623C>T (p.Gly541=)
|
|
|
NM_001148.6(ANK2):c.1635G>A (p.Val545=)
|
rs200115563
|
|
NM_001148.6(ANK2):c.1641A>G (p.Ser547=)
|
|
|
NM_001148.6(ANK2):c.1645C>T (p.Leu549=)
|
|
|
NM_001148.6(ANK2):c.1671C>T (p.Ser557=)
|
rs2059592026
|
|
NM_001148.6(ANK2):c.1683+16T>C
|
|
|
NM_001148.6(ANK2):c.1683+17C>A
|
|
|
NM_001148.6(ANK2):c.1684-8A>G
|
|
|
NM_001148.6(ANK2):c.1761T>A (p.Ala587=)
|
|
|
NM_001148.6(ANK2):c.1776A>G (p.Ala592=)
|
|
|
NM_001148.6(ANK2):c.1782+17C>T
|
|
|
NM_001148.6(ANK2):c.1782+18G>A
|
rs974888693
|
|
NM_001148.6(ANK2):c.186+16C>G
|
|
|
NM_001148.6(ANK2):c.186+8C>T
|
rs1263399987
|
|
NM_001148.6(ANK2):c.1860T>C (p.Ala620=)
|
rs2061079301
|
|
NM_001148.6(ANK2):c.1863C>T (p.Ser621=)
|
|
|
NM_001148.6(ANK2):c.187-15T>C
|
|
|
NM_001148.6(ANK2):c.187-8TC[2]
|
rs1060501160
|
|
NM_001148.6(ANK2):c.1881+10A>G
|
|
|
NM_001148.6(ANK2):c.1905T>C (p.Ile635=)
|
rs1060504154
|
|
NM_001148.6(ANK2):c.1941A>G (p.Thr647=)
|
rs2153713621
|
|
NM_001148.6(ANK2):c.1941A>T (p.Thr647=)
|
rs2153713621
|
|
NM_001148.6(ANK2):c.2013G>A (p.Gln671=)
|
|
|
NM_001148.6(ANK2):c.2025A>G (p.Thr675=)
|
|
|
NM_001148.6(ANK2):c.2079+14T>C
|
|
|
NM_001148.6(ANK2):c.2080-5T>C
|
|
|
NM_001148.6(ANK2):c.2178+9A>G
|
|
|
NM_001148.6(ANK2):c.2187C>T (p.Tyr729=)
|
|
|
NM_001148.6(ANK2):c.2247G>A (p.Lys749=)
|
rs2153731993
|
|
NM_001148.6(ANK2):c.2277+17C>G
|
rs2153732081
|
|
NM_001148.6(ANK2):c.2278-20G>A
|
|
|
NM_001148.6(ANK2):c.2278-20G>T
|
rs1323464610
|
|
NM_001148.6(ANK2):c.2278-7T>C
|
rs1345888282
|
|
NM_001148.6(ANK2):c.2278-7T>G
|
|
|
NM_001148.6(ANK2):c.2280C>T (p.Asn760=)
|
rs1060501162
|
|
NM_001148.6(ANK2):c.231G>T (p.Val77=)
|
rs149699185
|
|
NM_001148.6(ANK2):c.2373T>C (p.Thr791=)
|
|
|
NM_001148.6(ANK2):c.2376+12G>C
|
|
|
NM_001148.6(ANK2):c.2377-17_2377-14del
|
|
|
NM_001148.6(ANK2):c.2397G>T (p.Ala799=)
|
rs2069014217
|
|
NM_001148.6(ANK2):c.2421C>T (p.Ile807=)
|
|
|
NM_001148.6(ANK2):c.2427G>C (p.Val809=)
|
rs759057278
|
|
NM_001148.6(ANK2):c.2433C>T (p.Asp811=)
|
rs2153746997
|
|
NM_001148.6(ANK2):c.2460CAC[4] (p.Thr826del)
|
rs770530257
|
|
NM_001148.6(ANK2):c.2476-10G>T
|
rs878854257
|
|
NM_001148.6(ANK2):c.2476-6T>C
|
rs2153793959
|
|
NM_001148.6(ANK2):c.2481T>C (p.Ile827=)
|
rs1057522599
|
|
NM_001148.6(ANK2):c.249G>A (p.Leu83=)
|
rs772876832
|
|
NM_001148.6(ANK2):c.2514G>A (p.Thr838=)
|
|
|
NM_001148.6(ANK2):c.2514G>C (p.Thr838=)
|
rs895618053
|
|
NM_001148.6(ANK2):c.2548+19del
|
|
|
NM_001148.6(ANK2):c.2598C>T (p.Asp866=)
|
rs878854258
|
|
NM_001148.6(ANK2):c.2646T>C (p.Asp882=)
|
rs1203137650
|
|
NM_001148.6(ANK2):c.2694-16C>T
|
|
|
NM_001148.6(ANK2):c.2724C>T (p.His908=)
|
rs576844483
|
|
NM_001148.6(ANK2):c.2739C>T (p.Ala913=)
|
|
|
NM_001148.6(ANK2):c.2754C>T (p.Asp918=)
|
rs1445606491
|
|
NM_001148.6(ANK2):c.2763G>C (p.Val921=)
|
|
|
NM_001148.6(ANK2):c.2796+13T>C
|
rs2153836583
|
|
NM_001148.6(ANK2):c.2797-6G>T
|
|
|
NM_001148.6(ANK2):c.2820A>G (p.Ala940=)
|
|
|
NM_001148.6(ANK2):c.2839C>T (p.Leu947=)
|
|
|
NM_001148.6(ANK2):c.285+15G>T
|
|
|
NM_001148.6(ANK2):c.286-15G>C
|
|
|
NM_001148.6(ANK2):c.2901-11T>C
|
|
|
NM_001148.6(ANK2):c.2901-7T>C
|
|
|
NM_001148.6(ANK2):c.2937T>C (p.Gly979=)
|
rs768997753
|
|
NM_001148.6(ANK2):c.2961T>C (p.Asn987=)
|
|
|
NM_001148.6(ANK2):c.3057A>G (p.Pro1019=)
|
|
|
NM_001148.6(ANK2):c.3087C>T (p.Arg1029=)
|
|
|
NM_001148.6(ANK2):c.3090G>A (p.Leu1030=)
|
rs1487758535
|
|
NM_001148.6(ANK2):c.3126-4T>A
|
|
|
NM_001148.6(ANK2):c.3147T>G (p.Ala1049=)
|
|
|
NM_001148.6(ANK2):c.3213C>G (p.Thr1071=)
|
rs1395480636
|
|
NM_001148.6(ANK2):c.3234C>A (p.Ile1078=)
|
rs776320443
|
|
NM_001148.6(ANK2):c.324A>G (p.Gly108=)
|
|
|
NM_001148.6(ANK2):c.3294C>T (p.Arg1098=)
|
rs1554513891
|
|
NM_001148.6(ANK2):c.3379+18G>A
|
|
|
NM_001148.6(ANK2):c.3380-8T>C
|
rs755517362
|
|
NM_001148.6(ANK2):c.3393A>G (p.Pro1131=)
|
|
|
NM_001148.6(ANK2):c.351T>G (p.Val117=)
|
rs2153405491
|
|
NM_001148.6(ANK2):c.3567C>G (p.Thr1189=)
|
rs1588489652
|
|
NM_001148.6(ANK2):c.3570G>A (p.Lys1190=)
|
rs2153959444
|
|
NM_001148.6(ANK2):c.3588G>A (p.Leu1196=)
|
|
|
NM_001148.6(ANK2):c.3591+13T>G
|
|
|
NM_001148.6(ANK2):c.3591+18G>A
|
|
|
NM_001148.6(ANK2):c.3592-12T>C
|
|
|
NM_001148.6(ANK2):c.3594T>C (p.Ala1198=)
|
|
|
NM_001148.6(ANK2):c.3630A>G (p.Leu1210=)
|
rs997757383
|
|
NM_001148.6(ANK2):c.3786C>T (p.Cys1262=)
|
rs1245737444
|
|
NM_001148.6(ANK2):c.3797-10A>G
|
rs1379499964
|
|
NM_001148.6(ANK2):c.3797-7A>G
|
|
|
NM_001148.6(ANK2):c.3825T>C (p.Asp1275=)
|
|
|
NM_001148.6(ANK2):c.3840G>C (p.Thr1280=)
|
rs369917208
|
|
NM_001148.6(ANK2):c.3893+18A>G
|
rs2153971958
|
|
NM_001148.6(ANK2):c.3894-16_3894-15del
|
rs781478156
|
|
NM_001148.6(ANK2):c.390C>T (p.Gly130=)
|
rs1585494394
|
|
NM_001148.6(ANK2):c.399T>A (p.Pro133=)
|
rs2153534620
|
|
NM_001148.6(ANK2):c.4014C>T (p.Asp1338=)
|
rs2153979162
|
|
NM_001148.6(ANK2):c.4122+16T>C
|
|
|
NM_001148.6(ANK2):c.4122+17A>G
|
|
|
NM_001148.6(ANK2):c.4143C>A (p.Ile1381=)
|
rs1197148822
|
|
NM_001148.6(ANK2):c.4158C>T (p.Phe1386=)
|
rs567608851
|
|
NM_001148.6(ANK2):c.4218C>T (p.Phe1406=)
|
rs777564125
|
|
NM_001148.6(ANK2):c.4230A>G (p.Arg1410=)
|
rs2153983651
|
|
NM_001148.6(ANK2):c.4237C>T (p.Leu1413=)
|
rs878854259
|
|
NM_001148.6(ANK2):c.4239A>C (p.Leu1413=)
|
rs770858212
|
|
NM_001148.6(ANK2):c.4249-12T>G
|
|
|
NM_001148.6(ANK2):c.4249-7G>T
|
|
|
NM_001148.6(ANK2):c.4260G>T (p.Thr1420=)
|
rs571896168
|
|
NM_001148.6(ANK2):c.4287A>C (p.Ser1429=)
|
rs72556369
|
|
NM_001148.6(ANK2):c.4323G>A (p.Val1441=)
|
|
|
NM_001148.6(ANK2):c.4329A>G (p.Gln1443=)
|
rs1588704832
|
|
NM_001148.6(ANK2):c.4335T>C (p.Ile1445=)
|
|
|
NM_001148.6(ANK2):c.4371+18A>G
|
|
|
NM_001148.6(ANK2):c.4372-12T>C
|
|
|
NM_001148.6(ANK2):c.4372-18G>A
|
|
|
NM_001148.6(ANK2):c.4372-6G>T
|
rs760014047
|
|
NM_001148.6(ANK2):c.4386T>C (p.Asp1462=)
|
|
|
NM_001148.6(ANK2):c.438A>G (p.Val146=)
|
|
|
NM_001148.6(ANK2):c.4404+15G>A
|
|
|
NM_001148.6(ANK2):c.4426+15A>G
|
rs2095318118
|
|
NM_001148.6(ANK2):c.4427-13A>G
|
|
|
NM_001148.6(ANK2):c.4427-8C>T
|
|
|
NM_001148.6(ANK2):c.4428T>C (p.Asn1476=)
|
|
|
NM_001148.6(ANK2):c.4476T>A (p.Val1492=)
|
|
|
NM_001148.6(ANK2):c.4503G>A (p.Pro1501=)
|
|
|
NM_001148.6(ANK2):c.4566C>A (p.Thr1522=)
|
|
|
NM_001148.6(ANK2):c.4716A>C (p.Thr1572=)
|
rs199658305
|
|
NM_001148.6(ANK2):c.471C>T (p.Ser157=)
|
rs1278047767
|
|
NM_001148.6(ANK2):c.4744C>A (p.Arg1582=)
|
rs35249198
|
|
NM_001148.6(ANK2):c.4773A>G (p.Glu1591=)
|
rs2154016902
|
|
NM_001148.6(ANK2):c.4782T>A (p.Ile1594=)
|
|
|
NM_001148.6(ANK2):c.4811G>A (p.Arg1604Lys)
|
rs776426910
|
|
NM_001148.6(ANK2):c.483+16C>T
|
|
|
NM_001148.6(ANK2):c.484-4C>T
|
|
|
NM_001148.6(ANK2):c.48C>T (p.Phe16=)
|
|
|
NM_001148.6(ANK2):c.4941T>C (p.Cys1647=)
|
rs1588897925
|
|
NM_001148.6(ANK2):c.4989G>T (p.Gly1663=)
|
|
|
NM_001148.6(ANK2):c.4998T>C (p.Cys1666=)
|
|
|
NM_001148.6(ANK2):c.5001G>A (p.Glu1667=)
|
rs1166567955
|
|
NM_001148.6(ANK2):c.5064G>A (p.Gln1688=)
|
|
|
NM_001148.6(ANK2):c.5094G>A (p.Leu1698=)
|
|
|
NM_001148.6(ANK2):c.519A>G (p.Gln173=)
|
|
|
NM_001148.6(ANK2):c.5205G>A (p.Glu1735=)
|
|
|
NM_001148.6(ANK2):c.5235T>C (p.Pro1745=)
|
rs754587486
|
|
NM_001148.6(ANK2):c.5283T>C (p.Thr1761=)
|
|
|
NM_001148.6(ANK2):c.534G>A (p.Ala178=)
|
|
|
NM_001148.6(ANK2):c.534G>T (p.Ala178=)
|
|
|
NM_001148.6(ANK2):c.5391G>A (p.Val1797=)
|
rs2154019571
|
|
NM_001148.6(ANK2):c.5406C>T (p.Thr1802=)
|
|
|
NM_001148.6(ANK2):c.5424T>A (p.Ala1808=)
|
|
|
NM_001148.6(ANK2):c.5484A>G (p.Glu1828=)
|
|
|
NM_001148.6(ANK2):c.5490C>T (p.His1830=)
|
|
|
NM_001148.6(ANK2):c.5517T>A (p.Thr1839=)
|
|
|
NM_001148.6(ANK2):c.5541A>G (p.Pro1847=)
|
rs1300939911
|
|
NM_001148.6(ANK2):c.5604T>G (p.Pro1868=)
|
|
|
NM_001148.6(ANK2):c.5613A>G (p.Ser1871=)
|
rs908056052
|
|
NM_001148.6(ANK2):c.5628G>A (p.Glu1876=)
|
|
|
NM_001148.6(ANK2):c.5631A>G (p.Lys1877=)
|
|
|
NM_001148.6(ANK2):c.573G>A (p.Val191=)
|
|
|
NM_001148.6(ANK2):c.5748A>G (p.Val1916=)
|
rs1554553562
|
|
NM_001148.6(ANK2):c.5830A>C (p.Arg1944=)
|
|
|
NM_001148.6(ANK2):c.5835G>A (p.Thr1945=)
|
|
|
NM_001148.6(ANK2):c.5844C>T (p.His1948=)
|
rs780648194
|
|
NM_001148.6(ANK2):c.5850T>C (p.Pro1950=)
|
|
|
NM_001148.6(ANK2):c.5925A>G (p.Val1975=)
|
|
|
NM_001148.6(ANK2):c.5928C>T (p.Ser1976=)
|
rs2154021134
|
|
NM_001148.6(ANK2):c.5943A>G (p.Thr1981=)
|
rs1588929237
|
|
NM_001148.6(ANK2):c.6015A>G (p.Lys2005=)
|
|
|
NM_001148.6(ANK2):c.6084G>T (p.Arg2028=)
|
|
|
NM_001148.6(ANK2):c.6087A>G (p.Val2029=)
|
rs1588934579
|
|
NM_001148.6(ANK2):c.6142C>G (p.Gln2048Glu)
|
|
|
NM_001148.6(ANK2):c.6171G>A (p.Pro2057=)
|
|
|
NM_001148.6(ANK2):c.6177G>C (p.Thr2059=)
|
rs891749744
|
|
NM_001148.6(ANK2):c.618A>G (p.Lys206=)
|
rs957048917
|
|
NM_001148.6(ANK2):c.6213C>G (p.Ser2071=)
|
rs777757295
|
|
NM_001148.6(ANK2):c.6213C>T (p.Ser2071=)
|
|
|
NM_001148.6(ANK2):c.624C>T (p.Ala208=)
|
|
|
NM_001148.6(ANK2):c.6264C>T (p.Leu2088=)
|
rs201663032
|
|
NM_001148.6(ANK2):c.6273A>G (p.Lys2091=)
|
rs2154022097
|
|
NM_001148.6(ANK2):c.6372A>G (p.Leu2124=)
|
|
|
NM_001148.6(ANK2):c.6399C>T (p.Ser2133=)
|
rs2154022373
|
|
NM_001148.6(ANK2):c.63G>A (p.Gln21=)
|
rs1060504155
|
|
NM_001148.6(ANK2):c.6402T>C (p.Thr2134=)
|
|
|
NM_001148.6(ANK2):c.6450C>T (p.Tyr2150=)
|
|
|
NM_001148.6(ANK2):c.6453A>G (p.Gln2151=)
|
|
|
NM_001148.6(ANK2):c.6504A>G (p.Gln2168=)
|
rs2154022589
|
|
NM_001148.6(ANK2):c.6531A>G (p.Thr2177=)
|
rs747273242
|
|
NM_001148.6(ANK2):c.6567A>G (p.Pro2189=)
|
rs916751004
|
|
NM_001148.6(ANK2):c.6663G>A (p.Gly2221=)
|
|
|
NM_001148.6(ANK2):c.669+11C>A
|
|
|
NM_001148.6(ANK2):c.669+16C>G
|
rs1264807527
|
|
NM_001148.6(ANK2):c.669+18_669+19del
|
|
|
NM_001148.6(ANK2):c.669+19A>G
|
|
|
NM_001148.6(ANK2):c.6693T>C (p.Tyr2231=)
|
rs2154023129
|
|
NM_001148.6(ANK2):c.670-12_670-10del
|
|
|
NM_001148.6(ANK2):c.670-7G>A
|
rs2153558579
|
|
NM_001148.6(ANK2):c.6711A>G (p.Ala2237=)
|
rs1040262969
|
|
NM_001148.6(ANK2):c.6744T>C (p.Ser2248=)
|
rs529758377
|
|
NM_001148.6(ANK2):c.6792C>T (p.Ser2264=)
|
|
|
NM_001148.6(ANK2):c.6996T>C (p.Ser2332=)
|
rs2154023756
|
|
NM_001148.6(ANK2):c.7002A>G (p.Ala2334=)
|
|
|
NM_001148.6(ANK2):c.7014G>A (p.Glu2338=)
|
rs771964590
|
|
NM_001148.6(ANK2):c.7029G>C (p.Leu2343=)
|
rs777427207
|
|
NM_001148.6(ANK2):c.705C>G (p.Thr235=)
|
|
|
NM_001148.6(ANK2):c.7104G>A (p.Glu2368=)
|
rs2095714803
|
|
NM_001148.6(ANK2):c.7182A>G (p.Gly2394=)
|
|
|
NM_001148.6(ANK2):c.7236A>T (p.Ala2412=)
|
rs1394535709
|
|
NM_001148.6(ANK2):c.7284A>C (p.Ser2428=)
|
|
|
NM_001148.6(ANK2):c.7311G>C (p.Leu2437=)
|
rs2095736787
|
|
NM_001148.6(ANK2):c.7344A>G (p.Ser2448=)
|
|
|
NM_001148.6(ANK2):c.7405C>T (p.Leu2469=)
|
rs2154024675
|
|
NM_001148.6(ANK2):c.7563T>C (p.Ser2521=)
|
|
|
NM_001148.6(ANK2):c.7581C>T (p.Leu2527=)
|
rs376323883
|
|
NM_001148.6(ANK2):c.7605C>T (p.Pro2535=)
|
|
|
NM_001148.6(ANK2):c.7617C>T (p.Asp2539=)
|
|
|
NM_001148.6(ANK2):c.7650T>G (p.Val2550=)
|
rs1060504156
|
|
NM_001148.6(ANK2):c.7836A>G (p.Lys2612=)
|
rs1060504153
|
|
NM_001148.6(ANK2):c.7854A>G (p.Glu2618=)
|
|
|
NM_001148.6(ANK2):c.7899T>C (p.Asp2633=)
|
rs1159096479
|
|
NM_001148.6(ANK2):c.7902G>T (p.Val2634=)
|
rs150878494
|
|
NM_001148.6(ANK2):c.792+10G>A
|
rs878854260
|
|
NM_001148.6(ANK2):c.793-17G>A
|
|
|
NM_001148.6(ANK2):c.8031T>A (p.Ala2677=)
|
|
|
NM_001148.6(ANK2):c.8040C>A (p.Gly2680=)
|
|
|
NM_001148.6(ANK2):c.8082A>G (p.Pro2694=)
|
rs1369104507
|
|
NM_001148.6(ANK2):c.8127A>G (p.Gln2709=)
|
|
|
NM_001148.6(ANK2):c.8133G>A (p.Gln2711=)
|
|
|
NM_001148.6(ANK2):c.8247T>C (p.Ala2749=)
|
rs772870512
|
|
NM_001148.6(ANK2):c.8277T>C (p.Tyr2759=)
|
rs2154026618
|
|
NM_001148.6(ANK2):c.828A>G (p.Arg276=)
|
rs2153573581
|
|
NM_001148.6(ANK2):c.8298T>C (p.Thr2766=)
|
rs1272772997
|
|
NM_001148.6(ANK2):c.8381A>G (p.Gln2794Arg)
|
rs528909081
|
|
NM_001148.6(ANK2):c.8397T>C (p.Asp2799=)
|
rs779002619
|
|
NM_001148.6(ANK2):c.84+10C>T
|
|
|
NM_001148.6(ANK2):c.84+8G>A
|
rs766430801
|
|
NM_001148.6(ANK2):c.8403T>G (p.Val2801=)
|
|
|
NM_001148.6(ANK2):c.8406T>C (p.Asp2802=)
|
|
|
NM_001148.6(ANK2):c.8439T>C (p.Ala2813=)
|
|
|
NM_001148.6(ANK2):c.8469G>A (p.Glu2823=)
|
|
|
NM_001148.6(ANK2):c.85-19T>C
|
|
|
NM_001148.6(ANK2):c.85-20G>A
|
|
|
NM_001148.6(ANK2):c.8565A>T (p.Val2855=)
|
|
|
NM_001148.6(ANK2):c.8592C>T (p.Asp2864=)
|
rs2154027276
|
|
NM_001148.6(ANK2):c.8673C>G (p.Pro2891=)
|
|
|
NM_001148.6(ANK2):c.8706T>C (p.Asp2902=)
|
rs2154027556
|
|
NM_001148.6(ANK2):c.8709A>G (p.Arg2903=)
|
rs773207797
|
|
NM_001148.6(ANK2):c.8733T>A (p.Ser2911=)
|
|
|
NM_001148.6(ANK2):c.8772C>A (p.Ile2924=)
|
rs773189867
|
|
NM_001148.6(ANK2):c.8790T>C (p.Asn2930=)
|
rs777722099
|
|
NM_001148.6(ANK2):c.8814T>G (p.Ser2938=)
|
rs759775013
|
|
NM_001148.6(ANK2):c.8829A>G (p.Lys2943=)
|
rs1589016672
|
|
NM_001148.6(ANK2):c.8892C>T (p.Ile2964=)
|
rs62313245
|
|
NM_001148.6(ANK2):c.8916A>G (p.Val2972=)
|
rs897280623
|
|
NM_001148.6(ANK2):c.892-12T>C
|
|
|
NM_001148.6(ANK2):c.892-18C>A
|
|
|
NM_001148.6(ANK2):c.8958T>C (p.Ser2986=)
|
rs779012328
|
|
NM_001148.6(ANK2):c.8997G>A (p.Gln2999=)
|
|
|
NM_001148.6(ANK2):c.9009G>A (p.Leu3003=)
|
|
|
NM_001148.6(ANK2):c.9039A>C (p.Ser3013=)
|
|
|
NM_001148.6(ANK2):c.903A>G (p.Thr301=)
|
rs2153601389
|
|
NM_001148.6(ANK2):c.9141A>G (p.Glu3047=)
|
rs1273694931
|
|
NM_001148.6(ANK2):c.9192A>G (p.Gln3064=)
|
rs1554567994
|
|
NM_001148.6(ANK2):c.9228G>A (p.Gln3076=)
|
rs1223201780
|
|
NM_001148.6(ANK2):c.9306G>A (p.Leu3102=)
|
rs1589029903
|
|
NM_001148.6(ANK2):c.9322T>C (p.Leu3108=)
|
rs1234637379
|
|
NM_001148.6(ANK2):c.9465T>C (p.Asp3155=)
|
|
|
NM_001148.6(ANK2):c.9474G>T (p.Pro3158=)
|
rs145111737
|
|
NM_001148.6(ANK2):c.9475C>T (p.Leu3159=)
|
|
|
NM_001148.6(ANK2):c.9588G>A (p.Ser3196=)
|
|
|
NM_001148.6(ANK2):c.9606C>A (p.Ser3202=)
|
rs370760271
|
|
NM_001148.6(ANK2):c.9618T>A (p.Ile3206=)
|
|
|
NM_001148.6(ANK2):c.9627C>T (p.Ser3209=)
|
|
|
NM_001148.6(ANK2):c.963G>C (p.Arg321=)
|
rs749639153
|
|
NM_001148.6(ANK2):c.9702T>A (p.Pro3234=)
|
|
|
NM_001148.6(ANK2):c.9807G>A (p.Arg3269=)
|
|
|
NM_001148.6(ANK2):c.9855C>T (p.Ile3285=)
|
|
|
NM_001148.6(ANK2):c.9864T>C (p.Pro3288=)
|
|
|
NM_001148.6(ANK2):c.9888T>C (p.Pro3296=)
|
|
|
NM_001148.6(ANK2):c.990+14A>C
|
|
|
NM_001148.6(ANK2):c.990+20A>G
|
|
|
NM_001148.6(ANK2):c.990+7C>T
|
rs2153602020
|
|
NM_001148.6(ANK2):c.9984T>C (p.Asp3328=)
|
rs1554570983
|
|
NM_001167623.2(CACNA1C):c.1185C>T (p.Phe395=)
|
|
|
NM_001167623.2(CACNA1C):c.1215C>T (p.Ser405=)
|
rs751480224
|
|
NM_001276345.2(TNNT2):c.114G>T (p.Ala38=)
|
|
|
NM_001276345.2(TNNT2):c.147G>A (p.Glu49=)
|
|
|
NM_001276345.2(TNNT2):c.163+12G>T
|
rs45580032
|
|
NM_001276345.2(TNNT2):c.163+17G>A
|
|
|
NM_001276345.2(TNNT2):c.163+8T>C
|
|
|
NM_001276345.2(TNNT2):c.164-15T>C
|
|
|
NM_001276345.2(TNNT2):c.164-5T>C
|
|
|
NM_001276345.2(TNNT2):c.199+13G>A
|
|
|
NM_001276345.2(TNNT2):c.199+9A>T
|
rs749187235
|
|
NM_001276345.2(TNNT2):c.200-11A>T
|
|
|
NM_001276345.2(TNNT2):c.200-15T>G
|
|
|
NM_001276345.2(TNNT2):c.200-16C>G
|
|
|
NM_001276345.2(TNNT2):c.200-6C>T
|
rs1659750096
|
|
NM_001276345.2(TNNT2):c.200-8T>C
|
|
|
NM_001276345.2(TNNT2):c.207A>G (p.Pro69=)
|
rs531954320
|
|
NM_001276345.2(TNNT2):c.213G>A (p.Glu71=)
|
|
|
NM_001276345.2(TNNT2):c.225A>G (p.Pro75=)
|
rs2102273890
|
|
NM_001276345.2(TNNT2):c.228G>A (p.Lys76=)
|
rs727504869
|
|
NM_001276345.2(TNNT2):c.233+10G>A
|
rs543193858
|
|
NM_001276345.2(TNNT2):c.233+9G>A
|
rs1553283445
|
|
NM_001276345.2(TNNT2):c.234-10T>C
|
rs1342160801
|
|
NM_001276345.2(TNNT2):c.234-13C>A
|
|
|
NM_001276345.2(TNNT2):c.234-13C>T
|
|
|
NM_001276345.2(TNNT2):c.234-6C>T
|
|
|
NM_001276345.2(TNNT2):c.234-9C>G
|
rs1571631213
|
|
NM_001276345.2(TNNT2):c.237G>T (p.Ser79=)
|
rs3729845
|
|
NM_001276345.2(TNNT2):c.255G>T (p.Val85=)
|
rs780115529
|
|
NM_001276345.2(TNNT2):c.270C>G (p.Pro90=)
|
rs140245123
|
|
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=)
|
rs140245123
|
|
NM_001276345.2(TNNT2):c.279G>A (p.Glu93=)
|
|
|
NM_001276345.2(TNNT2):c.285G>A (p.Val95=)
|
rs1060503885
|
|
NM_001276345.2(TNNT2):c.294+8G>C
|
rs374092436
|
|
NM_001276345.2(TNNT2):c.295-17C>T
|
|
|
NM_001276345.2(TNNT2):c.295-18G>A
|
|
|
NM_001276345.2(TNNT2):c.300C>T (p.Ile100=)
|
rs1230932782
|
|
NM_001276345.2(TNNT2):c.321G>A (p.Lys107=)
|
rs397516459
|
|
NM_001276345.2(TNNT2):c.325C>T (p.Leu109=)
|
rs779857935
|
|
NM_001276345.2(TNNT2):c.327G>A (p.Leu109=)
|
rs2102261737
|
|
NM_001276345.2(TNNT2):c.342G>A (p.Ala114=)
|
rs918054429
|
|
NM_001276345.2(TNNT2):c.351G>A (p.Glu117=)
|
rs1659436211
|
|
NM_001276345.2(TNNT2):c.357C>T (p.His119=)
|
|
|
NM_001276345.2(TNNT2):c.363G>A (p.Glu121=)
|
rs2102261144
|
|
NM_001276345.2(TNNT2):c.366C>T (p.Asn122=)
|
rs979006197
|
|
NM_001276345.2(TNNT2):c.378G>A (p.Glu126=)
|
|
|
NM_001276345.2(TNNT2):c.41+14G>A
|
|
|
NM_001276345.2(TNNT2):c.41+16A>T
|
rs370729174
|
|
NM_001276345.2(TNNT2):c.41+6dup
|
rs1479180367
|
|
NM_001276345.2(TNNT2):c.412-4T>G
|
rs757304775
|
|
NM_001276345.2(TNNT2):c.412-6_412-4del
|
rs397516462
|
|
NM_001276345.2(TNNT2):c.42-11G>C
|
|
|
NM_001276345.2(TNNT2):c.42-12T>C
|
|
|
NM_001276345.2(TNNT2):c.42-18_42-17del
|
|
|
NM_001276345.2(TNNT2):c.42-6T>C
|
rs1660720268
|
|
NM_001276345.2(TNNT2):c.42-8G>A
|
|
|
NM_001276345.2(TNNT2):c.420T>C (p.Arg140=)
|
|
|
NM_001276345.2(TNNT2):c.441G>A (p.Gln147=)
|
rs1044313920
|
|
NM_001276345.2(TNNT2):c.444G>A (p.Gln148=)
|
rs2102253556
|
|
NM_001276345.2(TNNT2):c.447C>T (p.Arg149=)
|
rs1257601230
|
|
NM_001276345.2(TNNT2):c.453G>C (p.Arg151=)
|
rs786204406
|
|
NM_001276345.2(TNNT2):c.465G>A (p.Glu155=)
|
rs1416632771
|
|
NM_001276345.2(TNNT2):c.489+16C>A
|
rs1220628508
|
|
NM_001276345.2(TNNT2):c.489+18del
|
|
|
NM_001276345.2(TNNT2):c.489+7G>T
|
rs2102252517
|
|
NM_001276345.2(TNNT2):c.489+9C>A
|
rs1060503884
|
|
NM_001276345.2(TNNT2):c.490-10T>C
|
rs1659073969
|
|
NM_001276345.2(TNNT2):c.490-11C>A
|
|
|
NM_001276345.2(TNNT2):c.490-14C>G
|
|
|
NM_001276345.2(TNNT2):c.490-69C>T
|
rs483352834
|
|
NM_001276345.2(TNNT2):c.498G>A (p.Arg166=)
|
rs750399630
|
|
NM_001276345.2(TNNT2):c.507A>G (p.Arg169=)
|
|
|
NM_001276345.2(TNNT2):c.513G>A (p.Glu171=)
|
rs1378883954
|
|
NM_001276345.2(TNNT2):c.52+13_52+17dup
|
|
|
NM_001276345.2(TNNT2):c.52+18T>C
|
|
|
NM_001276345.2(TNNT2):c.528G>A (p.Arg176=)
|
|
|
NM_001276345.2(TNNT2):c.53-11C>T
|
|
|
NM_001276345.2(TNNT2):c.53-4G>A
|
rs2102308667
|
|
NM_001276345.2(TNNT2):c.547C>A (p.Arg183=)
|
|
|
NM_001276345.2(TNNT2):c.549G>A (p.Arg183=)
|
|
|
NM_001276345.2(TNNT2):c.558G>A (p.Lys186=)
|
|
|
NM_001276345.2(TNNT2):c.570C>T (p.Asn190=)
|
rs764636823
|
|
NM_001276345.2(TNNT2):c.57A>T (p.Ala19=)
|
rs1571673874
|
|
NM_001276345.2(TNNT2):c.600+13C>T
|
|
|
NM_001276345.2(TNNT2):c.600+13CAG[3]
|
|
|
NM_001276345.2(TNNT2):c.600+14A>G
|
|
|
NM_001276345.2(TNNT2):c.600+14A>T
|
|
|
NM_001276345.2(TNNT2):c.600+20G>T
|
|
|
NM_001276345.2(TNNT2):c.601-7G>T
|
|
|
NM_001276345.2(TNNT2):c.601-8C>A
|
rs397516475
|
|
NM_001276345.2(TNNT2):c.609+18C>T
|
|
|
NM_001276345.2(TNNT2):c.610-10C>T
|
rs375547142
|
|
NM_001276345.2(TNNT2):c.610-12C>T
|
|
|
NM_001276345.2(TNNT2):c.610-4C>A
|
|
|
NM_001276345.2(TNNT2):c.610-9A>C
|
|
|
NM_001276345.2(TNNT2):c.645G>C (p.Arg215=)
|
rs1571605548
|
|
NM_001276345.2(TNNT2):c.67+18G>C
|
|
|
NM_001276345.2(TNNT2):c.67+20G>A
|
|
|
NM_001276345.2(TNNT2):c.67+7G>T
|
rs1312770200
|
|
NM_001276345.2(TNNT2):c.68-6C>A
|
rs941842854
|
|
NM_001276345.2(TNNT2):c.681G>A (p.Lys227=)
|
rs2102234206
|
|
NM_001276345.2(TNNT2):c.696C>T (p.Asp232=)
|
rs2102234025
|
|
NM_001276345.2(TNNT2):c.714G>A (p.Gln238=)
|
|
|
NM_001276345.2(TNNT2):c.715C>T (p.Leu239=)
|
|
|
NM_001276345.2(TNNT2):c.719+13A>C
|
rs563883763
|
|
NM_001276345.2(TNNT2):c.719+13A>G
|
rs563883763
|
|
NM_001276345.2(TNNT2):c.719+17A>G
|
|
|
NM_001276345.2(TNNT2):c.719+18T>C
|
|
|
NM_001276345.2(TNNT2):c.720-10G>A
|
rs2102229886
|
|
NM_001276345.2(TNNT2):c.720-14C>G
|
|
|
NM_001276345.2(TNNT2):c.720-32_720-14dup
|
|
|
NM_001276345.2(TNNT2):c.720-6G>T
|
rs113471285
|
|
NM_001276345.2(TNNT2):c.732G>A (p.Lys244=)
|
|
|
NM_001276345.2(TNNT2):c.736C>T (p.Leu246=)
|
rs786204407
|
|
NM_001276345.2(TNNT2):c.750C>T (p.Ile250=)
|
rs2102229287
|
|
NM_001276345.2(TNNT2):c.753T>C (p.Tyr251=)
|
|
|
NM_001276345.2(TNNT2):c.780G>A (p.Leu260=)
|
rs1658580183
|
|
NM_001276345.2(TNNT2):c.807T>C (p.Tyr269=)
|
|
|
NM_001276345.2(TNNT2):c.810+15T>C
|
rs2102228364
|
|
NM_001276345.2(TNNT2):c.810+18C>T
|
|
|
NM_001276345.2(TNNT2):c.810+7C>T
|
rs373069229
|
|
NM_001276345.2(TNNT2):c.811-17T>C
|
|
|
NM_001276345.2(TNNT2):c.811-18T>C
|
|
|
NM_001276345.2(TNNT2):c.811-7C>T
|
|
|
NM_001276345.2(TNNT2):c.828C>T (p.Asn276=)
|
rs1553279337
|
|
NM_001276345.2(TNNT2):c.834C>T (p.Ile278=)
|
rs1278830616
|
|
NM_001276345.2(TNNT2):c.840T>C (p.Asp280=)
|
|
|
NM_001276345.2(TNNT2):c.851+11G>A
|
|
|
NM_001276345.2(TNNT2):c.851+8T>C
|
|
|
NM_001276345.2(TNNT2):c.852-7C>T
|
rs1233814100
|
|
NM_001276345.2(TNNT2):c.852-9C>T
|
|
|
NM_001276345.2(TNNT2):c.861C>G (p.Thr287=)
|
rs754211195
|
|
NM_001276345.2(TNNT2):c.861C>T (p.Thr287=)
|
|
|
NM_001276345.2(TNNT2):c.864C>A (p.Arg288=)
|
|
|
NM_001276345.2(TNNT2):c.870G>A (p.Lys290=)
|
|
|
NM_001276345.2(TNNT2):c.879C>T (p.Val293=)
|
|
|
NM_001276345.2(TNNT2):c.885G>A (p.Gly295=)
|
rs2102212901
|
|
NM_001276345.2(TNNT2):c.897G>A (p.Ter299=)
|
rs1311267989
|
|
NM_001276345.2(TNNT2):c.97G>A (p.Glu33Lys)
|
rs377474357
|
|
NM_001276345.2(TNNT2):c.98-13T>C
|
|
|
NM_001276345.2(TNNT2):c.98-19G>A
|
|
|
NM_001276345.2(TNNT2):c.98-4C>G
|
rs775895925
|
|
NM_001276345.2(TNNT2):c.98-6C>T
|
rs1335680363
|
|
NM_001276345.2(TNNT2):c.98-9C>A
|
|
|
NM_001308093.3(GATA4):c.1000+17_1000+18del
|
|
|
NM_001308093.3(GATA4):c.1000+19A>G
|
rs2130338672
|
|
NM_001308093.3(GATA4):c.1001-20C>G
|
|
|
NM_001308093.3(GATA4):c.1017G>A (p.Glu339=)
|
|
|
NM_001308093.3(GATA4):c.1035C>T (p.Ser345=)
|
rs755482369
|
|
NM_001308093.3(GATA4):c.1053C>T (p.Ser351=)
|
|
|
NM_001308093.3(GATA4):c.1065C>T (p.Thr355=)
|
|
|
NM_001308093.3(GATA4):c.1068C>A (p.Thr356=)
|
rs775324602
|
|
NM_001308093.3(GATA4):c.1089T>A (p.Arg363=)
|
rs143385784
|
|
NM_001308093.3(GATA4):c.1089T>C (p.Arg363=)
|
rs143385784
|
|
NM_001308093.3(GATA4):c.1101G>A (p.Thr367=)
|
rs771381966
|
|
NM_001308093.3(GATA4):c.1101G>C (p.Thr367=)
|
rs771381966
|
|
NM_001308093.3(GATA4):c.1116A>T (p.Ser372=)
|
rs112435835
|
|
NM_001308093.3(GATA4):c.111C>A (p.Val37=)
|
rs1585595173
|
|
NM_001308093.3(GATA4):c.1128G>A (p.Gly376=)
|
rs781488882
|
|
NM_001308093.3(GATA4):c.1149+15T>G
|
|
|
NM_001308093.3(GATA4):c.1149+20C>T
|
|
|
NM_001308093.3(GATA4):c.1149+7G>A
|
rs781457045
|
|
NM_001308093.3(GATA4):c.1149+7G>T
|
rs781457045
|
|
NM_001308093.3(GATA4):c.1150-14T>C
|
|
|
NM_001308093.3(GATA4):c.1150-18G>A
|
|
|
NM_001308093.3(GATA4):c.1150-18G>C
|
rs751207561
|
|
NM_001308093.3(GATA4):c.1150-20del
|
|
|
NM_001308093.3(GATA4):c.1150-8C>T
|
|
|
NM_001308093.3(GATA4):c.1188C>A (p.Ser396=)
|
|
|
NM_001308093.3(GATA4):c.1188C>T (p.Ser396=)
|
|
|
NM_001308093.3(GATA4):c.1209C>T (p.Ala403=)
|
rs2130355423
|
|
NM_001308093.3(GATA4):c.1218C>T (p.Leu406=)
|
|
|
NM_001308093.3(GATA4):c.1221C>G (p.Ser407=)
|
rs2130355480
|
|
NM_001308093.3(GATA4):c.1224A>G (p.Pro408=)
|
|
|
NM_001308093.3(GATA4):c.1254T>C (p.Ser418=)
|
rs1060503828
|
|
NM_001308093.3(GATA4):c.1296C>G (p.Val432=)
|
|
|
NM_001308093.3(GATA4):c.129G>A (p.Arg43=)
|
rs1563199849
|
|
NM_001308093.3(GATA4):c.129G>T (p.Arg43=)
|
rs1563199849
|
|
NM_001308093.3(GATA4):c.12C>T (p.Ser4=)
|
|
|
NM_001308093.3(GATA4):c.1302C>T (p.Ala434=)
|
|
|
NM_001308093.3(GATA4):c.1314G>A (p.Gly438=)
|
|
|
NM_001308093.3(GATA4):c.1328C>G (p.Ala443Gly)
|
rs146017816
|
|
NM_001308093.3(GATA4):c.135C>G (p.Pro45=)
|
rs1297614525
|
|
NM_001308093.3(GATA4):c.151C>T (p.Leu51=)
|
|
|
NM_001308093.3(GATA4):c.174C>A (p.Gly58=)
|
|
|
NM_001308093.3(GATA4):c.174C>T (p.Gly58=)
|
|
|
NM_001308093.3(GATA4):c.177G>A (p.Ala59=)
|
|
|
NM_001308093.3(GATA4):c.183T>C (p.Ser61=)
|
|
|
NM_001308093.3(GATA4):c.186G>A (p.Ala62=)
|
rs1466381420
|
|
NM_001308093.3(GATA4):c.195C>A (p.Gly65=)
|
|
|
NM_001308093.3(GATA4):c.204C>A (p.Gly68=)
|
rs1800003368
|
|
NM_001308093.3(GATA4):c.219G>C (p.Gly73=)
|
rs1057052962
|
|
NM_001308093.3(GATA4):c.219G>T (p.Gly73=)
|
|
|
NM_001308093.3(GATA4):c.222C>A (p.Ala74=)
|
|
|
NM_001308093.3(GATA4):c.222C>G (p.Ala74=)
|
|
|
NM_001308093.3(GATA4):c.243G>C (p.Gly81=)
|
|
|
NM_001308093.3(GATA4):c.246C>G (p.Thr82=)
|
rs1037655842
|
|
NM_001308093.3(GATA4):c.24C>G (p.Ala8=)
|
|
|
NM_001308093.3(GATA4):c.24C>T (p.Ala8=)
|
|
|
NM_001308093.3(GATA4):c.270C>T (p.Ser90=)
|
|
|
NM_001308093.3(GATA4):c.273G>A (p.Gln91=)
|
rs1585595804
|
|
NM_001308093.3(GATA4):c.276G>A (p.Ala92=)
|
|
|
NM_001308093.3(GATA4):c.300C>A (p.Thr100=)
|
rs1585595889
|
|
NM_001308093.3(GATA4):c.303G>A (p.Pro101=)
|
rs1585595911
|
|
NM_001308093.3(GATA4):c.306G>T (p.Pro102=)
|
rs1336667597
|
|
NM_001308093.3(GATA4):c.309G>T (p.Pro103=)
|
|
|
NM_001308093.3(GATA4):c.315G>A (p.Ser105=)
|
rs1329688744
|
|
NM_001308093.3(GATA4):c.321C>G (p.Arg107=)
|
|
|
NM_001308093.3(GATA4):c.333G>A (p.Pro111=)
|
rs1331416104
|
|
NM_001308093.3(GATA4):c.342C>T (p.Thr114=)
|
|
|
NM_001308093.3(GATA4):c.357C>G (p.Ala119=)
|
rs2130069809
|
|
NM_001308093.3(GATA4):c.366C>A (p.Ala122=)
|
|
|
NM_001308093.3(GATA4):c.366C>T (p.Ala122=)
|
rs1471365872
|
|
NM_001308093.3(GATA4):c.369T>C (p.Ala123=)
|
|
|
NM_001308093.3(GATA4):c.369T>G (p.Ala123=)
|
|
|
NM_001308093.3(GATA4):c.36G>A (p.Gly12=)
|
|
|
NM_001308093.3(GATA4):c.378C>T (p.Ala126=)
|
|
|
NM_001308093.3(GATA4):c.387T>A (p.Ala129=)
|
|
|
NM_001308093.3(GATA4):c.390G>A (p.Ala130=)
|
rs2130070163
|
|
NM_001308093.3(GATA4):c.423G>A (p.Ala141=)
|
rs1404734578
|
|
NM_001308093.3(GATA4):c.427C>T (p.Leu143=)
|
rs2130070594
|
|
NM_001308093.3(GATA4):c.429G>C (p.Leu143=)
|
|
|
NM_001308093.3(GATA4):c.432G>T (p.Ala144=)
|
rs1356013644
|
|
NM_001308093.3(GATA4):c.438C>G (p.Arg146=)
|
|
|
NM_001308093.3(GATA4):c.441G>A (p.Glu147=)
|
rs1800019637
|
|
NM_001308093.3(GATA4):c.444G>A (p.Gln148=)
|
rs1352635163
|
|
NM_001308093.3(GATA4):c.456C>T (p.Ala152=)
|
|
|
NM_001308093.3(GATA4):c.465G>A (p.Ala155=)
|
|
|
NM_001308093.3(GATA4):c.474C>T (p.Tyr158=)
|
|
|
NM_001308093.3(GATA4):c.480C>T (p.Ser160=)
|
rs2130071100
|
|
NM_001308093.3(GATA4):c.495C>T (p.Tyr165=)
|
|
|
NM_001308093.3(GATA4):c.501C>G (p.Ala167=)
|
|
|
NM_001308093.3(GATA4):c.516C>T (p.Ser172=)
|
|
|
NM_001308093.3(GATA4):c.525A>T (p.Ala175=)
|
|
|
NM_001308093.3(GATA4):c.543C>A (p.Ala181=)
|
rs544097659
|
|
NM_001308093.3(GATA4):c.543C>G (p.Ala181=)
|
rs544097659
|
|
NM_001308093.3(GATA4):c.543C>T (p.Ala181=)
|
rs544097659
|
|
NM_001308093.3(GATA4):c.546C>T (p.Gly182=)
|
rs2130071849
|
|
NM_001308093.3(GATA4):c.552C>T (p.Phe184=)
|
|
|
NM_001308093.3(GATA4):c.561G>A (p.Pro187=)
|
|
|
NM_001308093.3(GATA4):c.561G>T (p.Pro187=)
|
|
|
NM_001308093.3(GATA4):c.567G>A (p.Leu189=)
|
rs1554488672
|
|
NM_001308093.3(GATA4):c.594G>T (p.Pro198=)
|
rs1213779475
|
|
NM_001308093.3(GATA4):c.597C>G (p.Ala199=)
|
|
|
NM_001308093.3(GATA4):c.601C>A (p.Arg201=)
|
|
|
NM_001308093.3(GATA4):c.603A>G (p.Arg201=)
|
|
|
NM_001308093.3(GATA4):c.616+10A>C
|
|
|
NM_001308093.3(GATA4):c.616+15G>C
|
rs767068839
|
|
NM_001308093.3(GATA4):c.616+17G>C
|
|
|
NM_001308093.3(GATA4):c.617-12C>A
|
rs763950464
|
|
NM_001308093.3(GATA4):c.617-13C>T
|
|
|
NM_001308093.3(GATA4):c.639A>C (p.Ser213=)
|
|
|
NM_001308093.3(GATA4):c.63C>G (p.Gly21=)
|
|
|
NM_001308093.3(GATA4):c.657C>T (p.Val219=)
|
|
|
NM_001308093.3(GATA4):c.678C>A (p.Thr226=)
|
|
|
NM_001308093.3(GATA4):c.681G>A (p.Pro227=)
|
|
|
NM_001308093.3(GATA4):c.684C>G (p.Leu228=)
|
rs1563227410
|
|
NM_001308093.3(GATA4):c.699G>C (p.Gly233=)
|
rs2130307080
|
|
NM_001308093.3(GATA4):c.702G>C (p.Thr234=)
|
rs55788387
|
|
NM_001308093.3(GATA4):c.72C>T (p.Gly24=)
|
|
|
NM_001308093.3(GATA4):c.765C>T (p.Leu255=)
|
|
|
NM_001308093.3(GATA4):c.786+10T>G
|
|
|
NM_001308093.3(GATA4):c.786+17C>T
|
|
|
NM_001308093.3(GATA4):c.786+9G>A
|
|
|
NM_001308093.3(GATA4):c.786+9G>T
|
rs752147603
|
|
NM_001308093.3(GATA4):c.787-11C>T
|
rs1802226812
|
|
NM_001308093.3(GATA4):c.787-20A>G
|
rs2130312704
|
|
NM_001308093.3(GATA4):c.840C>T (p.Thr280=)
|
rs141114164
|
|
NM_001308093.3(GATA4):c.846G>C (p.Leu282=)
|
|
|
NM_001308093.3(GATA4):c.84C>T (p.His28=)
|
|
|
NM_001308093.3(GATA4):c.852C>G (p.Arg284=)
|
|
|
NM_001308093.3(GATA4):c.858T>C (p.Asn286=)
|
|
|
NM_001308093.3(GATA4):c.879C>T (p.Cys293=)
|
rs2130313407
|
|
NM_001308093.3(GATA4):c.903G>A (p.Lys301=)
|
rs1585687961
|
|
NM_001308093.3(GATA4):c.912+11C>T
|
|
|
NM_001308093.3(GATA4):c.912+17C>T
|
|
|
NM_001308093.3(GATA4):c.912+19C>G
|
|
|
NM_001308093.3(GATA4):c.912+19C>T
|
|
|
NM_001308093.3(GATA4):c.912+7G>C
|
|
|
NM_001308093.3(GATA4):c.912+9G>A
|
|
|
NM_001308093.3(GATA4):c.913-14T>C
|
|
|
NM_001308093.3(GATA4):c.913-16A>C
|
|
|
NM_001308093.3(GATA4):c.913-16A>G
|
rs1802484971
|
|
NM_001308093.3(GATA4):c.913-18T>G
|
|
|
NM_001308093.3(GATA4):c.913-19T>A
|
|
|
NM_001308093.3(GATA4):c.913-4C>T
|
rs947982256
|
|
NM_001308093.3(GATA4):c.913-8C>A
|
|
|
NM_001308093.3(GATA4):c.921G>A (p.Arg307=)
|
|
|
NM_001308093.3(GATA4):c.934C>A (p.Arg312=)
|
rs138404762
|
|
NM_001308093.3(GATA4):c.93C>A (p.Gly31=)
|
|
|
NM_001308093.3(GATA4):c.963G>A (p.Arg321=)
|
rs2130338269
|
|
NM_001308093.3(GATA4):c.966G>A (p.Lys322=)
|
rs995668697
|
|
NM_001308093.3(GATA4):c.978G>T (p.Leu326=)
|
rs939153862
|
|
NM_001308093.3(GATA4):c.999A>C (p.Ala333=)
|
rs1554498361
|
|
NM_001386795.1(DTNA):c.1001+10C>A
|
rs2095698605
|
|
NM_001386795.1(DTNA):c.1001+12T>C
|
|
|
NM_001386795.1(DTNA):c.1001+7A>G
|
rs2149448019
|
|
NM_001386795.1(DTNA):c.1002-19A>G
|
|
|
NM_001386795.1(DTNA):c.1002-2337G>A
|
|
|
NM_001386795.1(DTNA):c.1002-2340T>G
|
|
|
NM_001386795.1(DTNA):c.1002-7_1002-3del
|
|
|
NM_001386795.1(DTNA):c.102C>T (p.Thr34=)
|
|
|
NM_001386795.1(DTNA):c.1085+11A>G
|
rs2149544048
|
|
NM_001386795.1(DTNA):c.1085+19A>T
|
|
|
NM_001386795.1(DTNA):c.114A>T (p.Ala38=)
|
rs1005316955
|
|
NM_001386795.1(DTNA):c.1176-10T>C
|
rs2149710302
|
|
NM_001386795.1(DTNA):c.1176-12C>T
|
|
|
NM_001386795.1(DTNA):c.1209C>T (p.Asn403=)
|
rs1603062913
|
|
NM_001386795.1(DTNA):c.1248C>T (p.Gly416=)
|
|
|
NM_001386795.1(DTNA):c.1253+9C>T
|
|
|
NM_001386795.1(DTNA):c.1254-9C>T
|
|
|
NM_001386795.1(DTNA):c.1254-9_1254-8del
|
rs1568718398
|
|
NM_001386795.1(DTNA):c.1344A>C (p.Ser448=)
|
|
|
NM_001386795.1(DTNA):c.1347-19_1347-17del
|
|
|
NM_001386795.1(DTNA):c.1347-6T>C
|
|
|
NM_001386795.1(DTNA):c.1428T>C (p.Ser476=)
|
rs2149870918
|
|
NM_001386795.1(DTNA):c.1532+18T>A
|
|
|
NM_001386795.1(DTNA):c.1532+7C>T
|
|
|
NM_001386795.1(DTNA):c.153C>T (p.His51=)
|
rs756884885
|
|
NM_001386795.1(DTNA):c.1560T>C (p.Leu520=)
|
|
|
NM_001386795.1(DTNA):c.1566A>G (p.Leu522=)
|
|
|
NM_001386795.1(DTNA):c.1572T>C (p.His524=)
|
|
|
NM_001386795.1(DTNA):c.15T>C (p.Ser5=)
|
rs964404879
|
|
NM_001386795.1(DTNA):c.1646+11G>C
|
|
|
NM_001386795.1(DTNA):c.1646+13A>G
|
|
|
NM_001386795.1(DTNA):c.1646+17A>T
|
rs376948940
|
|
NM_001386795.1(DTNA):c.1646+18T>C
|
|
|
NM_001386795.1(DTNA):c.1647-16G>T
|
rs2150150416
|
|
NM_001386795.1(DTNA):c.1671G>A (p.Gln557=)
|
|
|
NM_001386795.1(DTNA):c.1740A>G (p.Leu580=)
|
|
|
NM_001386795.1(DTNA):c.1743+14_1743+15delinsAT
|
rs2150151636
|
|
NM_001386795.1(DTNA):c.1743+17A>G
|
|
|
NM_001386795.1(DTNA):c.1744-19A>G
|
|
|
NM_001386795.1(DTNA):c.1746T>C (p.Thr582=)
|
|
|
NM_001386795.1(DTNA):c.1770C>A (p.Ser590=)
|
rs570093404
|
|
NM_001386795.1(DTNA):c.1770C>T (p.Ser590=)
|
|
|
NM_001386795.1(DTNA):c.1776C>A (p.Pro592=)
|
|
|
NM_001386795.1(DTNA):c.1776C>G (p.Pro592=)
|
|
|
NM_001386795.1(DTNA):c.1821G>C (p.Ala607=)
|
rs9959365
|
|
NM_001386795.1(DTNA):c.1821G>T (p.Ala607=)
|
rs9959365
|
|
NM_001386795.1(DTNA):c.1836C>T (p.Thr612=)
|
|
|
NM_001386795.1(DTNA):c.187C>A (p.Arg63=)
|
rs773407468
|
|
NM_001386795.1(DTNA):c.1904-17T>C
|
|
|
NM_001386795.1(DTNA):c.1904-8C>G
|
|
|
NM_001386795.1(DTNA):c.1968C>T (p.Ser656=)
|
|
|
NM_001386795.1(DTNA):c.1971T>A (p.Ser657=)
|
|
|
NM_001386795.1(DTNA):c.1994-5G>A
|
|
|
NM_001386795.1(DTNA):c.2001G>A (p.Gly667=)
|
|
|
NM_001386795.1(DTNA):c.2093C>T (p.Ala698Val)
|
rs747872788
|
|
NM_001386795.1(DTNA):c.2118G>A (p.Gly706=)
|
rs2150373256
|
|
NM_001386795.1(DTNA):c.2163-17C>T
|
rs2150404797
|
|
NM_001386795.1(DTNA):c.2262C>T (p.Tyr754=)
|
|
|
NM_001386795.1(DTNA):c.2280A>G (p.Gln760=)
|
|
|
NM_001386795.1(DTNA):c.2295+10T>C
|
rs376012937
|
|
NM_001386795.1(DTNA):c.2310T>C (p.Gly770=)
|
|
|
NM_001386795.1(DTNA):c.255C>A (p.Leu85=)
|
|
|
NM_001386795.1(DTNA):c.261T>C (p.Thr87=)
|
|
|
NM_001386795.1(DTNA):c.267T>C (p.Phe89=)
|
rs2149041135
|
|
NM_001386795.1(DTNA):c.333C>T (p.Leu111=)
|
rs2149041765
|
|
NM_001386795.1(DTNA):c.362+14del
|
rs2149042288
|
|
NM_001386795.1(DTNA):c.362+7A>G
|
|
|
NM_001386795.1(DTNA):c.363-12_363-8del
|
rs2149252560
|
|
NM_001386795.1(DTNA):c.363-17C>A
|
rs578249361
|
|
NM_001386795.1(DTNA):c.363-9A>G
|
rs886053771
|
|
NM_001386795.1(DTNA):c.372T>C (p.His124=)
|
|
|
NM_001386795.1(DTNA):c.381T>A (p.Ile127=)
|
rs958850248
|
|
NM_001386795.1(DTNA):c.448+17del
|
rs754687179
|
|
NM_001386795.1(DTNA):c.48A>G (p.Arg16=)
|
rs2148227417
|
|
NM_001386795.1(DTNA):c.504C>T (p.Asp168=)
|
rs1602476332
|
|
NM_001386795.1(DTNA):c.507A>G (p.Gln169=)
|
|
|
NM_001386795.1(DTNA):c.529C>T (p.Leu177=)
|
|
|
NM_001386795.1(DTNA):c.537G>A (p.Thr179=)
|
rs11877640
|
|
NM_001386795.1(DTNA):c.552T>G (p.Gly184=)
|
|
|
NM_001386795.1(DTNA):c.558A>T (p.Ser186=)
|
|
|
NM_001386795.1(DTNA):c.603+7G>C
|
rs1602477433
|
|
NM_001386795.1(DTNA):c.604-16G>A
|
|
|
NM_001386795.1(DTNA):c.654C>A (p.Pro218=)
|
rs1478981280
|
|
NM_001386795.1(DTNA):c.67+7A>G
|
|
|
NM_001386795.1(DTNA):c.67+8T>C
|
rs979990151
|
|
NM_001386795.1(DTNA):c.68-10C>T
|
|
|
NM_001386795.1(DTNA):c.68-6C>T
|
|
|
NM_001386795.1(DTNA):c.684G>T (p.Leu228=)
|
|
|
NM_001386795.1(DTNA):c.709+20C>T
|
|
|
NM_001386795.1(DTNA):c.709+8G>C
|
|
|
NM_001386795.1(DTNA):c.710-11T>G
|
|
|
NM_001386795.1(DTNA):c.710-4T>G
|
rs2149411883
|
|
NM_001386795.1(DTNA):c.750T>C (p.Ser250=)
|
rs758308153
|
|
NM_001386795.1(DTNA):c.780G>A (p.Gln260=)
|
|
|
NM_001386795.1(DTNA):c.78T>C (p.Asp26=)
|
|
|
NM_001386795.1(DTNA):c.79C>T (p.Leu27=)
|
|
|
NM_001386795.1(DTNA):c.813C>T (p.Phe271=)
|
|
|
NM_001386795.1(DTNA):c.828C>T (p.Ala276=)
|
rs756146461
|
|
NM_001386795.1(DTNA):c.877-16T>G
|
rs2095695411
|
|
NM_001386795.1(DTNA):c.877-6T>C
|
rs1555830507
|
|
NM_001386795.1(DTNA):c.906A>C (p.Ala302=)
|
rs1060504938
|
|
NM_001386795.1(DTNA):c.921G>A (p.Leu307=)
|
|
|
NM_001743.6(CALM2):c.105T>C (p.Thr35=)
|
|
|
NM_001743.6(CALM2):c.123G>A (p.Gly41=)
|
rs369374910
|
|
NM_001743.6(CALM2):c.123G>C (p.Gly41=)
|
|
|
NM_001743.6(CALM2):c.178+10C>T
|
|
|
NM_001743.6(CALM2):c.178+10del
|
rs2103825559
|
|
NM_001743.6(CALM2):c.178+17G>A
|
|
|
NM_001743.6(CALM2):c.178+7C>G
|
|
|
NM_001743.6(CALM2):c.178+9T>A
|
|
|
NM_001743.6(CALM2):c.179-15A>G
|
|
|
NM_001743.6(CALM2):c.179-15A>T
|
rs747307571
|
|
NM_001743.6(CALM2):c.179-29_179-10del
|
rs1558694867
|
|
NM_001743.6(CALM2):c.179-9C>T
|
rs778197988
|
|
NM_001743.6(CALM2):c.186C>A (p.Gly62=)
|
rs1573215311
|
|
NM_001743.6(CALM2):c.249A>G (p.Glu83=)
|
|
|
NM_001743.6(CALM2):c.261A>G (p.Arg87=)
|
rs765564888
|
|
NM_001743.6(CALM2):c.285+16G>T
|
rs3729963
|
|
NM_001743.6(CALM2):c.285+17A>T
|
|
|
NM_001743.6(CALM2):c.285+9A>G
|
|
|
NM_001743.6(CALM2):c.286-10T>A
|
rs1558694452
|
|
NM_001743.6(CALM2):c.286-13A>C
|
|
|
NM_001743.6(CALM2):c.286-14A>G
|
|
|
NM_001743.6(CALM2):c.286-14A>T
|
|
|
NM_001743.6(CALM2):c.286-19A>G
|
|
|
NM_001743.6(CALM2):c.291C>T (p.Gly97=)
|
|
|
NM_001743.6(CALM2):c.3+12G>A
|
|
|
NM_001743.6(CALM2):c.3+13C>T
|
|
|
NM_001743.6(CALM2):c.3+17G>C
|
|
|
NM_001743.6(CALM2):c.3+18C>G
|
|
|
NM_001743.6(CALM2):c.3+20G>T
|
|
|
NM_001743.6(CALM2):c.3+9_3+18del
|
|
|
NM_001743.6(CALM2):c.34+12_34+13delinsCT
|
rs2103844524
|
|
NM_001743.6(CALM2):c.34+17T>C
|
rs2103844496
|
|
NM_001743.6(CALM2):c.34+19G>T
|
|
|
NM_001743.6(CALM2):c.342A>C (p.Gly114=)
|
|
|
NM_001743.6(CALM2):c.35-10_35-7del
|
rs757274055
|
|
NM_001743.6(CALM2):c.35-12T>C
|
|
|
NM_001743.6(CALM2):c.35-14T>C
|
|
|
NM_001743.6(CALM2):c.35-15C>G
|
rs2103825832
|
|
NM_001743.6(CALM2):c.4-15T>C
|
|
|
NM_001743.6(CALM2):c.4-17C>G
|
|
|
NM_001743.6(CALM2):c.4-19C>A
|
|
|
NM_001743.6(CALM2):c.4-5T>C
|
|
|
NM_001743.6(CALM2):c.4-8dup
|
rs2103844591
|
|
NM_001743.6(CALM2):c.411A>G (p.Val137=)
|
|
|
NM_001743.6(CALM2):c.417T>C (p.Tyr139=)
|
rs2103823534
|
|
NM_001743.6(CALM2):c.421+11C>T
|
|
|
NM_001743.6(CALM2):c.421+13G>A
|
|
|
NM_001743.6(CALM2):c.421+19C>T
|
|
|
NM_001743.6(CALM2):c.421+8T>C
|
|
|
NM_001743.6(CALM2):c.422-12C>T
|
|
|
NM_001743.6(CALM2):c.422-12dup
|
|
|
NM_001743.6(CALM2):c.422-13del
|
rs2103821563
|
|
NM_001743.6(CALM2):c.422-15C>T
|
|
|
NM_001743.6(CALM2):c.422-15CTT[2]
|
rs775247848
|
|
NM_001743.6(CALM2):c.422-9C>T
|
|
|
NM_001743.6(CALM2):c.57A>G (p.Leu19=)
|
rs754538204
|
|
NM_001743.6(CALM2):c.63C>T (p.Asp21=)
|
rs2103825750
|
|
NM_003098.3(SNTA1):c.1038C>T (p.Thr346=)
|
rs763466091
|
|
NM_003098.3(SNTA1):c.1040+11G>A
|
|
|
NM_003098.3(SNTA1):c.1041-11C>G
|
|
|
NM_003098.3(SNTA1):c.1047G>A (p.Val349=)
|
rs954667824
|
|
NM_003098.3(SNTA1):c.1047G>C (p.Val349=)
|
|
|
NM_003098.3(SNTA1):c.1053A>G (p.Ser351=)
|
rs1555816772
|
|
NM_003098.3(SNTA1):c.1122C>T (p.His374=)
|
|
|
NM_003098.3(SNTA1):c.1158G>T (p.Pro386=)
|
rs774320273
|
|
NM_003098.3(SNTA1):c.1164G>A (p.Glu388=)
|
|
|
NM_003098.3(SNTA1):c.1191G>C (p.Val397=)
|
rs1555816721
|
|
NM_003098.3(SNTA1):c.1197C>T (p.Gly399=)
|
|
|
NM_003098.3(SNTA1):c.1237+20G>A
|
rs1989701964
|
|
NM_003098.3(SNTA1):c.1238-13G>C
|
rs748801869
|
|
NM_003098.3(SNTA1):c.1238-9dup
|
|
|
NM_003098.3(SNTA1):c.123C>T (p.Thr41=)
|
rs1476277698
|
|
NM_003098.3(SNTA1):c.1269G>A (p.Leu423=)
|
|
|
NM_003098.3(SNTA1):c.1338G>A (p.Leu446=)
|
|
|
NM_003098.3(SNTA1):c.1425+15G>A
|
|
|
NM_003098.3(SNTA1):c.1428G>A (p.Gln476=)
|
rs1060504991
|
|
NM_003098.3(SNTA1):c.1443G>A (p.Ser481=)
|
|
|
NM_003098.3(SNTA1):c.1480C>T (p.Leu494=)
|
rs763351253
|
|
NM_003098.3(SNTA1):c.1482G>T (p.Leu494=)
|
|
|
NM_003098.3(SNTA1):c.150T>G (p.Gly50=)
|
|
|
NM_003098.3(SNTA1):c.168G>T (p.Pro56=)
|
|
|
NM_003098.3(SNTA1):c.180G>A (p.Glu60=)
|
|
|
NM_003098.3(SNTA1):c.201C>G (p.Ala67=)
|
|
|
NM_003098.3(SNTA1):c.210G>T (p.Pro70=)
|
rs751651742
|
|
NM_003098.3(SNTA1):c.213C>G (p.Gly71=)
|
rs1374381593
|
|
NM_003098.3(SNTA1):c.222C>G (p.Pro74=)
|
rs752864338
|
|
NM_003098.3(SNTA1):c.225G>A (p.Pro75=)
|
rs2146814729
|
|
NM_003098.3(SNTA1):c.240G>A (p.Ala80=)
|
rs765352601
|
|
NM_003098.3(SNTA1):c.240G>T (p.Ala80=)
|
rs765352601
|
|
NM_003098.3(SNTA1):c.279C>A (p.Ala93=)
|
rs1178951223
|
|
NM_003098.3(SNTA1):c.292C>T (p.Leu98=)
|
rs2146814454
|
|
NM_003098.3(SNTA1):c.310+10G>C
|
|
|
NM_003098.3(SNTA1):c.310+12_310+27del
|
rs1441274981
|
|
NM_003098.3(SNTA1):c.310+17G>A
|
|
|
NM_003098.3(SNTA1):c.311-16T>G
|
rs998028927
|
|
NM_003098.3(SNTA1):c.311-6G>A
|
rs139532210
|
|
NM_003098.3(SNTA1):c.34C>T (p.Leu12=)
|
rs2146815323
|
|
NM_003098.3(SNTA1):c.390T>C (p.Phe130=)
|
rs2146808171
|
|
NM_003098.3(SNTA1):c.414G>T (p.Val138=)
|
|
|
NM_003098.3(SNTA1):c.42G>A (p.Glu14=)
|
|
|
NM_003098.3(SNTA1):c.496+12C>T
|
|
|
NM_003098.3(SNTA1):c.496+13G>A
|
|
|
NM_003098.3(SNTA1):c.496+7A>G
|
|
|
NM_003098.3(SNTA1):c.497-14TC[4]
|
rs752630265
|
|
NM_003098.3(SNTA1):c.51C>T (p.Ala17=)
|
rs1221002090
|
|
NM_003098.3(SNTA1):c.57G>T (p.Ala19=)
|
rs1288013630
|
|
NM_003098.3(SNTA1):c.582C>T (p.Pro194=)
|
|
|
NM_003098.3(SNTA1):c.649T>C (p.Leu217=)
|
rs1555818113
|
|
NM_003098.3(SNTA1):c.669G>A (p.Ser223=)
|
rs199762207
|
|
NM_003098.3(SNTA1):c.684C>T (p.Pro228=)
|
|
|
NM_003098.3(SNTA1):c.699C>T (p.Pro233=)
|
|
|
NM_003098.3(SNTA1):c.701+10G>C
|
|
|
NM_003098.3(SNTA1):c.702-13T>A
|
|
|
NM_003098.3(SNTA1):c.702-13T>C
|
|
|
NM_003098.3(SNTA1):c.702-7C>A
|
rs780688953
|
|
NM_003098.3(SNTA1):c.702-8G>A
|
|
|
NM_003098.3(SNTA1):c.750G>A (p.Arg250=)
|
rs1014697667
|
|
NM_003098.3(SNTA1):c.756G>A (p.Lys252=)
|
|
|
NM_003098.3(SNTA1):c.75C>T (p.Gly25=)
|
|
|
NM_003098.3(SNTA1):c.783G>A (p.Ala261=)
|
|
|
NM_003098.3(SNTA1):c.798C>T (p.Ala266=)
|
|
|
NM_003098.3(SNTA1):c.822G>A (p.Arg274=)
|
|
|
NM_003098.3(SNTA1):c.840G>A (p.Gln280=)
|
|
|
NM_003098.3(SNTA1):c.910-9del
|
|
|
NM_003098.3(SNTA1):c.939G>T (p.Leu313=)
|
rs1181358730
|
|
NM_003098.3(SNTA1):c.969C>T (p.Leu323=)
|
|
|
NM_003098.3(SNTA1):c.975G>A (p.Leu325=)
|
|
|
NM_003098.3(SNTA1):c.981C>T (p.Leu327=)
|
|
|
NM_003098.3(SNTA1):c.984C>G (p.Pro328=)
|
rs138863915
|
|
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup)
|
rs748325646
|
|
NM_003413.4(ZIC3):c.141C>T (p.Ala47=)
|
rs771406033
|
|
NM_003413.4(ZIC3):c.18C>T (p.Asp6=)
|
rs1602742253
|
|
NM_003413.4(ZIC3):c.312C>T (p.Tyr104=)
|
|
|
NM_003413.4(ZIC3):c.36T>C (p.Pro12=)
|
|
|
NM_003413.4(ZIC3):c.429G>C (p.Ser143=)
|
rs755825923
|
|
NM_003413.4(ZIC3):c.54C>T (p.Ser18=)
|
|
|
NM_003413.4(ZIC3):c.667AACATG[3] (p.223NM[3])
|
rs779610526
|
|
NM_003413.4(ZIC3):c.900G>A (p.Glu300=)
|
|
|
NM_004387.4(NKX2-5):c.132C>G (p.Ser44=)
|
|
|
NM_004387.4(NKX2-5):c.159A>T (p.Pro53=)
|
rs1581111412
|
|
NM_004387.4(NKX2-5):c.15T>C (p.Pro5=)
|
rs747865362
|
|
NM_004387.4(NKX2-5):c.177C>A (p.Pro59=)
|
|
|
NM_004387.4(NKX2-5):c.189G>A (p.Ala63=)
|
rs760954359
|
|
NM_004387.4(NKX2-5):c.192G>A (p.Pro64=)
|
rs1242630173
|
|
NM_004387.4(NKX2-5):c.192G>C (p.Pro64=)
|
|
|
NM_004387.4(NKX2-5):c.207G>A (p.Leu69=)
|
|
|
NM_004387.4(NKX2-5):c.234A>T (p.Ser78=)
|
rs2113906146
|
|
NM_004387.4(NKX2-5):c.237G>A (p.Pro79=)
|
rs72554029
|
|
NM_004387.4(NKX2-5):c.237G>T (p.Pro79=)
|
rs72554029
|
|
NM_004387.4(NKX2-5):c.246T>C (p.Cys82=)
|
|
|
NM_004387.4(NKX2-5):c.249G>T (p.Ala83=)
|
rs1442654880
|
|
NM_004387.4(NKX2-5):c.252T>C (p.Ser84=)
|
|
|
NM_004387.4(NKX2-5):c.261C>T (p.Pro87=)
|
|
|
NM_004387.4(NKX2-5):c.298C>G (p.Pro100Ala)
|
rs550046293
|
|
NM_004387.4(NKX2-5):c.300C>G (p.Pro100=)
|
|
|
NM_004387.4(NKX2-5):c.315C>T (p.Asp105=)
|
|
|
NM_004387.4(NKX2-5):c.334+9G>A
|
rs534308328
|
|
NM_004387.4(NKX2-5):c.334+9G>T
|
rs534308328
|
|
NM_004387.4(NKX2-5):c.335-16C>T
|
|
|
NM_004387.4(NKX2-5):c.335-18C>T
|
|
|
NM_004387.4(NKX2-5):c.335-5C>T
|
rs2113902342
|
|
NM_004387.4(NKX2-5):c.335-6C>T
|
|
|
NM_004387.4(NKX2-5):c.357G>T (p.Ala119=)
|
rs769566306
|
|
NM_004387.4(NKX2-5):c.369G>A (p.Glu123=)
|
|
|
NM_004387.4(NKX2-5):c.381G>T (p.Ala127=)
|
|
|
NM_004387.4(NKX2-5):c.387C>A (p.Asn129Lys)
|
rs750029908
|
|
NM_004387.4(NKX2-5):c.406C>A (p.Arg136=)
|
|
|
NM_004387.4(NKX2-5):c.409C>A (p.Arg137=)
|
rs1260214548
|
|
NM_004387.4(NKX2-5):c.410G>A (p.Arg137Gln)
|
|
|
NM_004387.4(NKX2-5):c.423G>A (p.Pro141=)
|
|
|
NM_004387.4(NKX2-5):c.429G>A (p.Val143=)
|
|
|
NM_004387.4(NKX2-5):c.432C>T (p.Leu144=)
|
rs1182838417
|
|
NM_004387.4(NKX2-5):c.465G>A (p.Arg155=)
|
|
|
NM_004387.4(NKX2-5):c.489G>T (p.Leu163=)
|
rs2113901761
|
|
NM_004387.4(NKX2-5):c.513G>A (p.Leu171=)
|
|
|
NM_004387.4(NKX2-5):c.565C>A (p.Arg189=)
|
|
|
NM_004387.4(NKX2-5):c.567G>A (p.Arg189=)
|
|
|
NM_004387.4(NKX2-5):c.582G>A (p.Lys194=)
|
|
|
NM_004387.4(NKX2-5):c.591G>A (p.Arg197=)
|
rs1761354689
|
|
NM_004387.4(NKX2-5):c.603T>G (p.Thr201=)
|
rs980492525
|
|
NM_004387.4(NKX2-5):c.606G>A (p.Leu202=)
|
|
|
NM_004387.4(NKX2-5):c.60G>C (p.Leu20=)
|
rs554604572
|
|
NM_004387.4(NKX2-5):c.612G>A (p.Leu204=)
|
rs946354549
|
|
NM_004387.4(NKX2-5):c.615G>A (p.Val205=)
|
|
|
NM_004387.4(NKX2-5):c.627G>A (p.Pro209=)
|
|
|
NM_004387.4(NKX2-5):c.627GCC[4] (p.Pro214del)
|
rs746833511
|
|
NM_004387.4(NKX2-5):c.635C>T (p.Pro212Leu)
|
rs372282873
|
|
NM_004387.4(NKX2-5):c.651G>A (p.Arg217=)
|
|
|
NM_004387.4(NKX2-5):c.657G>C (p.Ala219=)
|
rs990341478
|
|
NM_004387.4(NKX2-5):c.690C>T (p.Cys230=)
|
|
|
NM_004387.4(NKX2-5):c.699C>T (p.Asp233=)
|
|
|
NM_004387.4(NKX2-5):c.723C>T (p.Tyr241=)
|
rs1204175293
|
|
NM_004387.4(NKX2-5):c.78C>T (p.Ser26=)
|
rs2113906717
|
|
NM_004387.4(NKX2-5):c.813T>A (p.Thr271=)
|
|
|
NM_004387.4(NKX2-5):c.816C>T (p.Ala272=)
|
|
|
NM_004387.4(NKX2-5):c.819T>A (p.Ala273=)
|
rs2113900942
|
|
NM_004387.4(NKX2-5):c.828C>G (p.Ala276=)
|
rs762836048
|
|
NM_004387.4(NKX2-5):c.837C>T (p.Ser279=)
|
rs1761345000
|
|
NM_004387.4(NKX2-5):c.858C>G (p.Ala286=)
|
|
|
NM_004387.4(NKX2-5):c.858C>T (p.Ala286=)
|
|
|
NM_004387.4(NKX2-5):c.861C>A (p.Ala287=)
|
|
|
NM_004387.4(NKX2-5):c.882C>T (p.Asn294=)
|
rs1554093405
|
|
NM_004387.4(NKX2-5):c.885C>T (p.Phe295=)
|
rs150581386
|
|
NM_004387.4(NKX2-5):c.888C>A (p.Gly296=)
|
|
|
NM_004387.4(NKX2-5):c.891C>T (p.Val297=)
|
|
|
NM_004387.4(NKX2-5):c.894G>A (p.Gly298=)
|
rs2113900696
|
|
NM_004387.4(NKX2-5):c.897C>T (p.Asp299=)
|
rs1060504828
|
|
NM_004387.4(NKX2-5):c.906G>C (p.Ala302=)
|
rs529731562
|
|
NM_004387.4(NKX2-5):c.918C>T (p.Pro306=)
|
|
|
NM_004387.4(NKX2-5):c.921G>A (p.Gly307=)
|
|
|
NM_004387.4(NKX2-5):c.966A>G (p.Arg322=)
|
|
|
NM_004387.4(NKX2-5):c.96G>A (p.Glu32=)
|
rs776310516
|
|
NM_004387.4(NKX2-5):c.99C>G (p.Leu33=)
|
rs2113906643
|
|
NM_004821.3(HAND1):c.174G>A (p.Ala58=)
|
rs761768832
|
|
NM_004821.3(HAND1):c.174G>T (p.Ala58=)
|
|
|
NM_004821.3(HAND1):c.186G>T (p.Pro62=)
|
|
|
NM_004821.3(HAND1):c.210C>A (p.Thr70=)
|
|
|
NM_004821.3(HAND1):c.225C>T (p.Asp75=)
|
rs752995620
|
|
NM_004821.3(HAND1):c.261G>T (p.Ala87=)
|
rs768347498
|
|
NM_004821.3(HAND1):c.280C>A (p.Arg94=)
|
|
|
NM_004821.3(HAND1):c.339A>C (p.Ala113=)
|
|
|
NM_004821.3(HAND1):c.420C>T (p.Thr140=)
|
|
|
NM_004821.3(HAND1):c.447G>A (p.Val149=)
|
|
|
NM_004821.3(HAND1):c.468T>C (p.Ser156=)
|
rs34402828
|
|
NM_004821.3(HAND1):c.480G>A (p.Glu160=)
|
|
|
NM_004821.3(HAND1):c.504G>A (p.Lys168=)
|
rs2113303031
|
|
NM_004821.3(HAND1):c.516C>A (p.Gly172=)
|
|
|
NM_004821.3(HAND1):c.543+19A>T
|
|
|
NM_004821.3(HAND1):c.544-13T>G
|
|
|
NM_004821.3(HAND1):c.564T>C (p.Pro188=)
|
rs1561710559
|
|
NM_004821.3(HAND1):c.579A>C (p.Pro193=)
|
|
|
NM_004821.3(HAND1):c.600A>C (p.Gly200=)
|
rs942295767
|
|
NM_004821.3(HAND1):c.600A>G (p.Gly200=)
|
|
|
NM_004821.3(HAND1):c.606C>T (p.Thr202=)
|
|
|
NM_004821.3(HAND1):c.609C>G (p.Gly203=)
|
|
|
NM_004821.3(HAND1):c.615G>C (p.Pro205=)
|
|
|
NM_004821.3(HAND1):c.615G>T (p.Pro205=)
|
|
|
NM_004821.3(HAND1):c.76C>T (p.Pro26Ser)
|
|
|
NM_004821.3(HAND1):c.88G>A (p.Gly30Ser)
|
|
|
NM_004821.3(HAND1):c.96C>T (p.Ala32=)
|
|
|
NM_005159.5(ACTC1):c.1005T>C (p.Pro335=)
|
rs1179163467
|
|
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=)
|
rs748062476
|
|
NM_005159.5(ACTC1):c.1050T>A (p.Ser350=)
|
rs895745627
|
|
NM_005159.5(ACTC1):c.1053G>A (p.Leu351=)
|
rs151321743
|
|
NM_005159.5(ACTC1):c.1056C>T (p.Ser352=)
|
rs1595759957
|
|
NM_005159.5(ACTC1):c.1095T>C (p.Asp365=)
|
|
|
NM_005159.5(ACTC1):c.1107A>G (p.Pro369=)
|
|
|
NM_005159.5(ACTC1):c.1119C>T (p.His373=)
|
rs1208061059
|
|
NM_005159.5(ACTC1):c.1128C>T (p.Cys376=)
|
rs1891679853
|
|
NM_005159.5(ACTC1):c.120G>C (p.Pro40=)
|
rs766934253
|
|
NM_005159.5(ACTC1):c.123G>A (p.Arg41=)
|
|
|
NM_005159.5(ACTC1):c.129+10C>T
|
|
|
NM_005159.5(ACTC1):c.129+11C>T
|
|
|
NM_005159.5(ACTC1):c.129+14C>G
|
|
|
NM_005159.5(ACTC1):c.129+15G>A
|
|
|
NM_005159.5(ACTC1):c.129+17G>T
|
|
|
NM_005159.5(ACTC1):c.129+8T>A
|
|
|
NM_005159.5(ACTC1):c.130-15T>G
|
rs376417852
|
|
NM_005159.5(ACTC1):c.130-18C>A
|
|
|
NM_005159.5(ACTC1):c.132A>C (p.Gly44=)
|
|
|
NM_005159.5(ACTC1):c.150T>C (p.Gly50=)
|
|
|
NM_005159.5(ACTC1):c.177A>G (p.Glu59=)
|
rs755858258
|
|
NM_005159.5(ACTC1):c.195C>T (p.Gly65=)
|
|
|
NM_005159.5(ACTC1):c.201G>C (p.Leu67=)
|
|
|
NM_005159.5(ACTC1):c.204C>T (p.Thr68=)
|
rs1891751214
|
|
NM_005159.5(ACTC1):c.207G>C (p.Leu69=)
|
|
|
NM_005159.5(ACTC1):c.213T>C (p.Tyr71=)
|
|
|
NM_005159.5(ACTC1):c.234C>T (p.Ile78=)
|
rs1393400015
|
|
NM_005159.5(ACTC1):c.24C>T (p.Thr8=)
|
|
|
NM_005159.5(ACTC1):c.267C>T (p.His89=)
|
|
|
NM_005159.5(ACTC1):c.27C>T (p.Ala9=)
|
rs1595762043
|
|
NM_005159.5(ACTC1):c.285G>A (p.Glu95=)
|
rs1211913373
|
|
NM_005159.5(ACTC1):c.294G>T (p.Val98=)
|
rs397517058
|
|
NM_005159.5(ACTC1):c.300C>G (p.Pro100=)
|
|
|
NM_005159.5(ACTC1):c.30G>A (p.Leu10=)
|
|
|
NM_005159.5(ACTC1):c.30G>C (p.Leu10=)
|
|
|
NM_005159.5(ACTC1):c.312C>G (p.Pro104=)
|
|
|
NM_005159.5(ACTC1):c.324A>T (p.Thr108=)
|
|
|
NM_005159.5(ACTC1):c.342C>T (p.Pro114=)
|
rs878854754
|
|
NM_005159.5(ACTC1):c.384C>T (p.Thr128=)
|
|
|
NM_005159.5(ACTC1):c.408G>C (p.Val136=)
|
|
|
NM_005159.5(ACTC1):c.42C>T (p.Asn14=)
|
rs1257278537
|
|
NM_005159.5(ACTC1):c.438T>C (p.Ala146=)
|
|
|
NM_005159.5(ACTC1):c.454+13C>A
|
|
|
NM_005159.5(ACTC1):c.454+18G>A
|
|
|
NM_005159.5(ACTC1):c.455-10C>T
|
|
|
NM_005159.5(ACTC1):c.455-12T>C
|
|
|
NM_005159.5(ACTC1):c.455-18G>C
|
rs925035661
|
|
NM_005159.5(ACTC1):c.455-4del
|
rs1178667520
|
|
NM_005159.5(ACTC1):c.459T>C (p.Ile153=)
|
rs2140431034
|
|
NM_005159.5(ACTC1):c.45C>T (p.Gly15=)
|
|
|
NM_005159.5(ACTC1):c.471T>C (p.Ser157=)
|
rs2140431029
|
|
NM_005159.5(ACTC1):c.489C>T (p.His163=)
|
|
|
NM_005159.5(ACTC1):c.501C>T (p.Ile167=)
|
rs1306504752
|
|
NM_005159.5(ACTC1):c.504T>C (p.Tyr168=)
|
rs2140430970
|
|
NM_005159.5(ACTC1):c.516T>C (p.Ala172=)
|
rs397517064
|
|
NM_005159.5(ACTC1):c.522C>T (p.Pro174=)
|
|
|
NM_005159.5(ACTC1):c.525T>C (p.His175=)
|
rs2140430937
|
|
NM_005159.5(ACTC1):c.537T>A (p.Arg179=)
|
rs750131288
|
|
NM_005159.5(ACTC1):c.555G>A (p.Arg185=)
|
|
|
NM_005159.5(ACTC1):c.570C>T (p.Tyr190=)
|
rs1595760934
|
|
NM_005159.5(ACTC1):c.579G>A (p.Lys193=)
|
|
|
NM_005159.5(ACTC1):c.597C>A (p.Gly199=)
|
rs1595760921
|
|
NM_005159.5(ACTC1):c.616+10T>C
|
|
|
NM_005159.5(ACTC1):c.616+5GT[4]
|
rs749539033
|
|
NM_005159.5(ACTC1):c.616+5GT[6]
|
|
|
NM_005159.5(ACTC1):c.616+7G>A
|
|
|
NM_005159.5(ACTC1):c.616+7G>T
|
|
|
NM_005159.5(ACTC1):c.617-11T>C
|
rs1891721032
|
|
NM_005159.5(ACTC1):c.636T>C (p.Arg212=)
|
rs1595760838
|
|
NM_005159.5(ACTC1):c.648G>A (p.Glu216=)
|
|
|
NM_005159.5(ACTC1):c.66C>T (p.Gly22=)
|
rs1060504729
|
|
NM_005159.5(ACTC1):c.699C>T (p.Ala233=)
|
rs1595760786
|
|
NM_005159.5(ACTC1):c.705C>T (p.Ser235=)
|
rs2140430606
|
|
NM_005159.5(ACTC1):c.712C>T (p.Leu238=)
|
rs1891718902
|
|
NM_005159.5(ACTC1):c.72G>A (p.Ala24=)
|
|
|
NM_005159.5(ACTC1):c.72G>C (p.Ala24=)
|
rs778572289
|
|
NM_005159.5(ACTC1):c.741C>A (p.Gly247=)
|
rs1595760747
|
|
NM_005159.5(ACTC1):c.744A>G (p.Gln248=)
|
|
|
NM_005159.5(ACTC1):c.753T>G (p.Thr251=)
|
rs1595760737
|
|
NM_005159.5(ACTC1):c.75C>A (p.Gly25=)
|
|
|
NM_005159.5(ACTC1):c.75C>T (p.Gly25=)
|
rs144819872
|
|
NM_005159.5(ACTC1):c.768C>T (p.Arg256=)
|
|
|
NM_005159.5(ACTC1):c.789C>T (p.Leu263=)
|
|
|
NM_005159.5(ACTC1):c.798C>G (p.Pro266=)
|
rs397517068
|
|
NM_005159.5(ACTC1):c.798C>T (p.Pro266=)
|
rs397517068
|
|
NM_005159.5(ACTC1):c.808+18G>A
|
|
|
NM_005159.5(ACTC1):c.808+20G>A
|
|
|
NM_005159.5(ACTC1):c.808+8G>T
|
|
|
NM_005159.5(ACTC1):c.808+9T>C
|
|
|
NM_005159.5(ACTC1):c.809-12A>G
|
rs587780846
|
|
NM_005159.5(ACTC1):c.809-12A>T
|
rs587780846
|
|
NM_005159.5(ACTC1):c.809-12_809-11insGT
|
rs774238821
|
|
NM_005159.5(ACTC1):c.809-12_809-11insGTGG
|
rs774238821
|
|
NM_005159.5(ACTC1):c.809-18_809-17insTGTGTA
|
rs1447068308
|
|
NM_005159.5(ACTC1):c.809-20_809-19insTGTA
|
rs1194538397
|
|
NM_005159.5(ACTC1):c.809-58TG[12]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[13]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[14]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[15]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[16]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[17]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[18]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[19]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[20]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[21]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[22]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[24]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[25]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[26]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[27]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[28]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[29]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[30]
|
rs59431308
|
|
NM_005159.5(ACTC1):c.809-58TG[32]
|
|
|
NM_005159.5(ACTC1):c.809-8G>T
|
rs767180775
|
|
NM_005159.5(ACTC1):c.852C>T (p.Ile284=)
|
|
|
NM_005159.5(ACTC1):c.861T>C (p.Cys287=)
|
|
|
NM_005159.5(ACTC1):c.885G>C (p.Leu295=)
|
rs2140429649
|
|
NM_005159.5(ACTC1):c.906T>C (p.Ser302=)
|
rs2140429615
|
|
NM_005159.5(ACTC1):c.90C>A (p.Arg30=)
|
|
|
NM_005159.5(ACTC1):c.90C>T (p.Arg30=)
|
rs1555419004
|
|
NM_005159.5(ACTC1):c.915C>T (p.Thr305=)
|
rs1049511214
|
|
NM_005159.5(ACTC1):c.93T>A (p.Ala31=)
|
|
|
NM_005159.5(ACTC1):c.969T>C (p.Ala323=)
|
|
|
NM_005159.5(ACTC1):c.975C>T (p.Ser325=)
|
rs939520463
|
|
NM_005159.5(ACTC1):c.990+15T>C
|
|
|
NM_005159.5(ACTC1):c.991-10C>T
|
rs1298992263
|
|
NM_005159.5(ACTC1):c.991-10_991-8del
|
|
|
NM_005159.5(ACTC1):c.991-18T>G
|
rs1891683495
|
|
NM_005159.5(ACTC1):c.991-8T>A
|
|
|
NM_005159.5(ACTC1):c.993T>C (p.Ile331=)
|
|
|
NM_005159.5(ACTC1):c.999T>C (p.Ala333=)
|
rs1891683050
|
|
NM_005159.5(ACTC1):c.9C>T (p.Asp3=)
|
rs535623090
|
|
NM_005184.4(CALM3):c.108G>A (p.Val36=)
|
|
|
NM_005184.4(CALM3):c.12G>A (p.Gln4=)
|
|
|
NM_005184.4(CALM3):c.132C>T (p.Pro44=)
|
|
|
NM_005184.4(CALM3):c.144G>A (p.Glu48=)
|
rs1599758683
|
|
NM_005184.4(CALM3):c.147G>A (p.Leu49=)
|
|
|
NM_005184.4(CALM3):c.147G>T (p.Leu49=)
|
rs760657005
|
|
NM_005184.4(CALM3):c.159C>A (p.Ile53=)
|
|
|
NM_005184.4(CALM3):c.159C>T (p.Ile53=)
|
|
|
NM_005184.4(CALM3):c.165G>A (p.Glu55=)
|
|
|
NM_005184.4(CALM3):c.174A>G (p.Ala58=)
|
rs2122245693
|
|
NM_005184.4(CALM3):c.178+12A>G
|
|
|
NM_005184.4(CALM3):c.179-13C>T
|
|
|
NM_005184.4(CALM3):c.192T>A (p.Ile64=)
|
|
|
NM_005184.4(CALM3):c.213C>T (p.Thr71=)
|
|
|
NM_005184.4(CALM3):c.273T>A (p.Arg91=)
|
rs559783307
|
|
NM_005184.4(CALM3):c.27G>A (p.Gln9=)
|
|
|
NM_005184.4(CALM3):c.285+17A>G
|
|
|
NM_005184.4(CALM3):c.286-4C>G
|
|
|
NM_005184.4(CALM3):c.286-8dup
|
rs2122249132
|
|
NM_005184.4(CALM3):c.3+11C>T
|
rs2122211406
|
|
NM_005184.4(CALM3):c.3+14G>C
|
|
|
NM_005184.4(CALM3):c.3+17G>A
|
|
|
NM_005184.4(CALM3):c.3+18G>A
|
rs767873951
|
|
NM_005184.4(CALM3):c.3+19T>G
|
|
|
NM_005184.4(CALM3):c.318G>T (p.Leu106=)
|
|
|
NM_005184.4(CALM3):c.333G>C (p.Thr111=)
|
rs1274089736
|
|
NM_005184.4(CALM3):c.339G>C (p.Leu113=)
|
|
|
NM_005184.4(CALM3):c.34+11T>C
|
|
|
NM_005184.4(CALM3):c.34+7C>G
|
rs2122231385
|
|
NM_005184.4(CALM3):c.342G>A (p.Gly114=)
|
|
|
NM_005184.4(CALM3):c.35-13C>A
|
|
|
NM_005184.4(CALM3):c.35-14C>A
|
|
|
NM_005184.4(CALM3):c.35-14C>T
|
|
|
NM_005184.4(CALM3):c.35-18T>C
|
|
|
NM_005184.4(CALM3):c.35-18T>G
|
|
|
NM_005184.4(CALM3):c.35-19C>T
|
|
|
NM_005184.4(CALM3):c.35-9T>C
|
|
|
NM_005184.4(CALM3):c.363G>A (p.Glu121=)
|
|
|
NM_005184.4(CALM3):c.387T>C (p.Ala129=)
|
rs1271316314
|
|
NM_005184.4(CALM3):c.393C>T (p.Ile131=)
|
|
|
NM_005184.4(CALM3):c.4-17C>G
|
rs370333318
|
|
NM_005184.4(CALM3):c.4-5T>C
|
rs2122231200
|
|
NM_005184.4(CALM3):c.4-6T>C
|
|
|
NM_005184.4(CALM3):c.421+10G>T
|
|
|
NM_005184.4(CALM3):c.421+14A>G
|
|
|
NM_005184.4(CALM3):c.421+16G>A
|
|
|
NM_005184.4(CALM3):c.421+18T>C
|
|
|
NM_005184.4(CALM3):c.422-20C>G
|
|
|
NM_005184.4(CALM3):c.422-5C>T
|
|
|
NM_005184.4(CALM3):c.422-7T>C
|
|
|
NM_005184.4(CALM3):c.422-8C>T
|
rs1317120997
|
|
NM_005184.4(CALM3):c.429A>G (p.Val143=)
|
rs2122252253
|
|
NM_005184.4(CALM3):c.51C>T (p.Phe17=)
|
|
|
NM_005184.4(CALM3):c.57C>A (p.Leu19=)
|
|
|
NM_005184.4(CALM3):c.66G>A (p.Lys22=)
|
rs2122245298
|
|
NM_005184.4(CALM3):c.72A>G (p.Gly24=)
|
rs2122245344
|
|
NM_005184.4(CALM3):c.75T>C (p.Asp25=)
|
|
|
NM_005184.4(CALM3):c.81T>C (p.Thr27=)
|
|
|
NM_005257.6(GATA6):c.1002G>A (p.Pro334=)
|
|
|
NM_005257.6(GATA6):c.1005C>T (p.Ser335=)
|
rs2143278591
|
|
NM_005257.6(GATA6):c.1050C>T (p.Pro350=)
|
rs976781879
|
|
NM_005257.6(GATA6):c.1053C>G (p.Ala351=)
|
|
|
NM_005257.6(GATA6):c.1053C>T (p.Ala351=)
|
rs1399574460
|
|
NM_005257.6(GATA6):c.1086G>T (p.Leu362=)
|
|
|
NM_005257.6(GATA6):c.1104C>T (p.Ala368=)
|
|
|
NM_005257.6(GATA6):c.1107G>A (p.Pro369=)
|
|
|
NM_005257.6(GATA6):c.1135+12G>C
|
|
|
NM_005257.6(GATA6):c.1135+14dup
|
rs943255115
|
|
NM_005257.6(GATA6):c.1135+16C>T
|
|
|
NM_005257.6(GATA6):c.1135+9C>T
|
rs76308670
|
|
NM_005257.6(GATA6):c.1136-14C>T
|
|
|
NM_005257.6(GATA6):c.1136-19C>A
|
|
|
NM_005257.6(GATA6):c.1140G>A (p.Leu380=)
|
|
|
NM_005257.6(GATA6):c.1152G>T (p.Leu384=)
|
rs1479772095
|
|
NM_005257.6(GATA6):c.1155C>G (p.Ser385=)
|
|
|
NM_005257.6(GATA6):c.1161C>T (p.Ser387=)
|
rs1481597424
|
|
NM_005257.6(GATA6):c.1170C>T (p.Cys390=)
|
rs1192312578
|
|
NM_005257.6(GATA6):c.1209G>A (p.Arg403=)
|
rs2143289871
|
|
NM_005257.6(GATA6):c.1236C>T (p.Asn412=)
|
|
|
NM_005257.6(GATA6):c.1245G>T (p.Gly415=)
|
rs1180175270
|
|
NM_005257.6(GATA6):c.1257G>A (p.Lys419=)
|
|
|
NM_005257.6(GATA6):c.1281C>T (p.Leu427=)
|
|
|
NM_005257.6(GATA6):c.1299C>G (p.Arg433=)
|
rs887805315
|
|
NM_005257.6(GATA6):c.1302+12C>T
|
|
|
NM_005257.6(GATA6):c.1302+14G>A
|
|
|
NM_005257.6(GATA6):c.1302+20_1302+52del
|
|
|
NM_005257.6(GATA6):c.1303-13G>T
|
|
|
NM_005257.6(GATA6):c.1303-6T>C
|
rs1555629497
|
|
NM_005257.6(GATA6):c.1303-8G>C
|
|
|
NM_005257.6(GATA6):c.1320T>A (p.Leu440=)
|
rs146624465
|
|
NM_005257.6(GATA6):c.1320T>C (p.Leu440=)
|
rs146624465
|
|
NM_005257.6(GATA6):c.1329C>G (p.Ser443=)
|
rs768460903
|
|
NM_005257.6(GATA6):c.1329C>T (p.Ser443=)
|
rs768460903
|
|
NM_005257.6(GATA6):c.1380G>A (p.Glu460=)
|
rs2143300898
|
|
NM_005257.6(GATA6):c.1398T>C (p.Asn466=)
|
|
|
NM_005257.6(GATA6):c.1428+10G>A
|
|
|
NM_005257.6(GATA6):c.1428+9T>A
|
rs751665524
|
|
NM_005257.6(GATA6):c.1429-17A>G
|
|
|
NM_005257.6(GATA6):c.1516+15A>G
|
rs901042088
|
|
NM_005257.6(GATA6):c.1516+20G>A
|
|
|
NM_005257.6(GATA6):c.1516+20G>C
|
|
|
NM_005257.6(GATA6):c.1578C>T (p.Cys526=)
|
rs2033217814
|
|
NM_005257.6(GATA6):c.1596C>A (p.Pro532=)
|
|
|
NM_005257.6(GATA6):c.1596C>G (p.Pro532=)
|
|
|
NM_005257.6(GATA6):c.1617A>G (p.Ser539=)
|
|
|
NM_005257.6(GATA6):c.1620+18A>T
|
rs2143304391
|
|
NM_005257.6(GATA6):c.1620+19T>C
|
|
|
NM_005257.6(GATA6):c.1620+7A>T
|
|
|
NM_005257.6(GATA6):c.1621-14C>T
|
|
|
NM_005257.6(GATA6):c.1621-15C>T
|
|
|
NM_005257.6(GATA6):c.1621-20G>T
|
|
|
NM_005257.6(GATA6):c.1647G>C (p.Ala549=)
|
|
|
NM_005257.6(GATA6):c.1665C>T (p.Pro555=)
|
|
|
NM_005257.6(GATA6):c.1689G>A (p.Ser563=)
|
|
|
NM_005257.6(GATA6):c.1728G>A (p.Ser576=)
|
|
|
NM_005257.6(GATA6):c.1749C>T (p.Ser583=)
|
rs142079702
|
|
NM_005257.6(GATA6):c.1764C>T (p.Ser588=)
|
rs1333538423
|
|
NM_005257.6(GATA6):c.1770C>T (p.Cys590=)
|
|
|
NM_005257.6(GATA6):c.180C>T (p.Cys60=)
|
|
|
NM_005257.6(GATA6):c.186G>A (p.Thr62=)
|
|
|
NM_005257.6(GATA6):c.18C>A (p.Gly6=)
|
rs2143273333
|
|
NM_005257.6(GATA6):c.234G>A (p.Leu78=)
|
|
|
NM_005257.6(GATA6):c.273C>A (p.Pro91=)
|
|
|
NM_005257.6(GATA6):c.291T>C (p.Pro97=)
|
|
|
NM_005257.6(GATA6):c.297C>T (p.Val99=)
|
rs2143275034
|
|
NM_005257.6(GATA6):c.300G>T (p.Ala100=)
|
rs767279089
|
|
NM_005257.6(GATA6):c.303C>T (p.Gly101=)
|
|
|
NM_005257.6(GATA6):c.336G>A (p.Leu112=)
|
|
|
NM_005257.6(GATA6):c.342G>A (p.Leu114=)
|
rs2143275390
|
|
NM_005257.6(GATA6):c.369C>T (p.Thr123=)
|
rs747422213
|
|
NM_005257.6(GATA6):c.399C>T (p.Gly133=)
|
|
|
NM_005257.6(GATA6):c.423C>G (p.Pro141=)
|
|
|
NM_005257.6(GATA6):c.432G>A (p.Pro144=)
|
|
|
NM_005257.6(GATA6):c.43G>A (p.Gly15Arg)
|
rs116262672
|
|
NM_005257.6(GATA6):c.465C>T (p.Ser155=)
|
|
|
NM_005257.6(GATA6):c.474T>C (p.Gly158=)
|
|
|
NM_005257.6(GATA6):c.48C>G (p.Ala16=)
|
rs764776127
|
|
NM_005257.6(GATA6):c.507C>T (p.Phe169=)
|
|
|
NM_005257.6(GATA6):c.525G>T (p.Ala175=)
|
rs759587190
|
|
NM_005257.6(GATA6):c.564C>T (p.Tyr188=)
|
|
|
NM_005257.6(GATA6):c.576C>T (p.Thr192=)
|
rs2033051987
|
|
NM_005257.6(GATA6):c.57G>A (p.Ala19=)
|
rs764489452
|
|
NM_005257.6(GATA6):c.613C>T (p.Leu205=)
|
|
|
NM_005257.6(GATA6):c.618G>A (p.Gln206=)
|
|
|
NM_005257.6(GATA6):c.621G>A (p.Gly207=)
|
|
|
NM_005257.6(GATA6):c.627C>G (p.Gly209=)
|
|
|
NM_005257.6(GATA6):c.648G>A (p.Ala216=)
|
|
|
NM_005257.6(GATA6):c.666C>T (p.His222=)
|
|
|
NM_005257.6(GATA6):c.687G>C (p.Ser229=)
|
rs1189580893
|
|
NM_005257.6(GATA6):c.702A>C (p.Pro234=)
|
|
|
NM_005257.6(GATA6):c.750C>G (p.Gly250=)
|
|
|
NM_005257.6(GATA6):c.750C>T (p.Gly250=)
|
rs1024528816
|
|
NM_005257.6(GATA6):c.759C>T (p.Gly253=)
|
|
|
NM_005257.6(GATA6):c.765C>A (p.Ala255=)
|
rs926270539
|
|
NM_005257.6(GATA6):c.765C>G (p.Ala255=)
|
rs926270539
|
|
NM_005257.6(GATA6):c.765C>T (p.Ala255=)
|
rs926270539
|
|
NM_005257.6(GATA6):c.771G>A (p.Ala257=)
|
|
|
NM_005257.6(GATA6):c.771G>T (p.Ala257=)
|
|
|
NM_005257.6(GATA6):c.780G>T (p.Ser260=)
|
rs1157916092
|
|
NM_005257.6(GATA6):c.798T>C (p.Ser266=)
|
rs2143277468
|
|
NM_005257.6(GATA6):c.810C>T (p.Pro270=)
|
rs2033057273
|
|
NM_005257.6(GATA6):c.819C>T (p.Asn273=)
|
rs943267073
|
|
NM_005257.6(GATA6):c.837G>T (p.Pro279=)
|
rs1350572697
|
|
NM_005257.6(GATA6):c.867C>T (p.Gly289=)
|
|
|
NM_005257.6(GATA6):c.879G>A (p.Val293=)
|
rs1311556193
|
|
NM_005257.6(GATA6):c.888C>T (p.Gly296=)
|
|
|
NM_005257.6(GATA6):c.900G>C (p.Leu300=)
|
rs1060503826
|
|
NM_005257.6(GATA6):c.918C>G (p.Arg306=)
|
|
|
NM_005257.6(GATA6):c.936G>T (p.Ser312=)
|
|
|
NM_005257.6(GATA6):c.945C>T (p.Ala315=)
|
|
|
NM_005257.6(GATA6):c.946G>C (p.Ala316Pro)
|
|
|
NM_005257.6(GATA6):c.969CCA[11] (p.His333dup)
|
rs562588574
|
|
NM_005257.6(GATA6):c.969CCA[9] (p.His333del)
|
rs562588574
|
|
NM_005257.6(GATA6):c.998_1000del (p.His333del)
|
rs763204851
|
|
NM_005751.5(AKAP9):c.10023A>C (p.Ser3341=)
|
|
|
NM_005751.5(AKAP9):c.1002A>G (p.Leu334=)
|
rs2130662396
|
|
NM_005751.5(AKAP9):c.10056A>C (p.Leu3352=)
|
|
|
NM_005751.5(AKAP9):c.10062A>G (p.Glu3354=)
|
|
|
NM_005751.5(AKAP9):c.10203A>G (p.Gly3401=)
|
rs2130901779
|
|
NM_005751.5(AKAP9):c.10233A>G (p.Lys3411=)
|
|
|
NM_005751.5(AKAP9):c.10236G>A (p.Val3412=)
|
rs878854805
|
|
NM_005751.5(AKAP9):c.10245T>A (p.Leu3415=)
|
rs2130901879
|
|
NM_005751.5(AKAP9):c.10272A>G (p.Gln3424=)
|
rs1397831091
|
|
NM_005751.5(AKAP9):c.10305A>G (p.Arg3435=)
|
rs372493917
|
|
NM_005751.5(AKAP9):c.10368T>C (p.Ser3456=)
|
|
|
NM_005751.5(AKAP9):c.10392T>C (p.Leu3464=)
|
rs773258039
|
|
NM_005751.5(AKAP9):c.10398+12G>T
|
|
|
NM_005751.5(AKAP9):c.10545C>A (p.Ile3515=)
|
|
|
NM_005751.5(AKAP9):c.10607+13T>C
|
|
|
NM_005751.5(AKAP9):c.10607+18G>T
|
|
|
NM_005751.5(AKAP9):c.10714-19C>A
|
|
|
NM_005751.5(AKAP9):c.10755T>G (p.Thr3585=)
|
|
|
NM_005751.5(AKAP9):c.10872A>G (p.Arg3624=)
|
rs774938501
|
|
NM_005751.5(AKAP9):c.10897-10G>T
|
|
|
NM_005751.5(AKAP9):c.10962A>G (p.Val3654=)
|
rs2130909473
|
|
NM_005751.5(AKAP9):c.10978T>C (p.Leu3660=)
|
|
|
NM_005751.5(AKAP9):c.10G>C (p.Glu4Gln)
|
|
|
NM_005751.5(AKAP9):c.1101G>A (p.Val367=)
|
rs878854806
|
|
NM_005751.5(AKAP9):c.11049C>T (p.Asp3683=)
|
|
|
NM_005751.5(AKAP9):c.11097+12C>T
|
|
|
NM_005751.5(AKAP9):c.11097+17A>G
|
rs375213627
|
|
NM_005751.5(AKAP9):c.11196T>C (p.Cys3732=)
|
rs755516007
|
|
NM_005751.5(AKAP9):c.11226G>A (p.Arg3742=)
|
|
|
NM_005751.5(AKAP9):c.11234G>T (p.Gly3745Val)
|
rs140853603
|
|
NM_005751.5(AKAP9):c.11256A>G (p.Leu3752=)
|
|
|
NM_005751.5(AKAP9):c.11262G>A (p.Val3754=)
|
rs1346274347
|
|
NM_005751.5(AKAP9):c.11298G>A (p.Arg3766=)
|
rs775989174
|
|
NM_005751.5(AKAP9):c.11310A>G (p.Arg3770=)
|
|
|
NM_005751.5(AKAP9):c.11330+19A>G
|
|
|
NM_005751.5(AKAP9):c.11330+9T>C
|
|
|
NM_005751.5(AKAP9):c.11367A>G (p.Thr3789=)
|
|
|
NM_005751.5(AKAP9):c.11417-10del
|
|
|
NM_005751.5(AKAP9):c.11417-19A>G
|
|
|
NM_005751.5(AKAP9):c.11457G>C (p.Gly3819=)
|
rs2130924831
|
|
NM_005751.5(AKAP9):c.11464T>C (p.Leu3822=)
|
|
|
NM_005751.5(AKAP9):c.11484T>A (p.His3828Gln)
|
rs538476247
|
|
NM_005751.5(AKAP9):c.1149T>C (p.Ser383=)
|
|
|
NM_005751.5(AKAP9):c.1158A>G (p.Lys386=)
|
|
|
NM_005751.5(AKAP9):c.11610C>T (p.Tyr3870=)
|
|
|
NM_005751.5(AKAP9):c.11682G>A (p.Gln3894=)
|
rs769718964
|
|
NM_005751.5(AKAP9):c.11686+8G>A
|
|
|
NM_005751.5(AKAP9):c.11687-5C>T
|
|
|
NM_005751.5(AKAP9):c.11687-8T>C
|
|
|
NM_005751.5(AKAP9):c.1191A>G (p.Leu397=)
|
|
|
NM_005751.5(AKAP9):c.1200A>G (p.Thr400=)
|
|
|
NM_005751.5(AKAP9):c.1215G>A (p.Gln405=)
|
rs745393946
|
|
NM_005751.5(AKAP9):c.1230A>G (p.Lys410=)
|
|
|
NM_005751.5(AKAP9):c.1233C>T (p.Asp411=)
|
|
|
NM_005751.5(AKAP9):c.1278A>G (p.Thr426=)
|
|
|
NM_005751.5(AKAP9):c.1341A>G (p.Gln447=)
|
|
|
NM_005751.5(AKAP9):c.1536C>A (p.Leu512=)
|
|
|
NM_005751.5(AKAP9):c.1605A>G (p.Glu535=)
|
|
|
NM_005751.5(AKAP9):c.1635G>A (p.Gln545=)
|
rs1471564069
|
|
NM_005751.5(AKAP9):c.1644A>G (p.Arg548=)
|
rs886062468
|
|
NM_005751.5(AKAP9):c.1647G>A (p.Gln549=)
|
rs991776167
|
|
NM_005751.5(AKAP9):c.1650A>C (p.Thr550=)
|
rs2130665345
|
|
NM_005751.5(AKAP9):c.1659A>G (p.Glu553=)
|
|
|
NM_005751.5(AKAP9):c.1743C>G (p.Ser581=)
|
rs749770109
|
|
NM_005751.5(AKAP9):c.1758A>G (p.Glu586=)
|
rs1554404361
|
|
NM_005751.5(AKAP9):c.1821G>A (p.Lys607=)
|
|
|
NM_005751.5(AKAP9):c.183G>A (p.Gln61=)
|
|
|
NM_005751.5(AKAP9):c.1857A>G (p.Glu619=)
|
rs2130666228
|
|
NM_005751.5(AKAP9):c.1864T>C (p.Leu622=)
|
|
|
NM_005751.5(AKAP9):c.1899C>T (p.His633=)
|
|
|
NM_005751.5(AKAP9):c.198C>T (p.Tyr66=)
|
|
|
NM_005751.5(AKAP9):c.2016T>C (p.Asn672=)
|
|
|
NM_005751.5(AKAP9):c.2083T>C (p.Leu695=)
|
|
|
NM_005751.5(AKAP9):c.2259A>G (p.Glu753=)
|
rs2130667609
|
|
NM_005751.5(AKAP9):c.2289G>A (p.Glu763=)
|
|
|
NM_005751.5(AKAP9):c.228T>A (p.Thr76=)
|
|
|
NM_005751.5(AKAP9):c.231G>T (p.Val77=)
|
rs2130563280
|
|
NM_005751.5(AKAP9):c.2325A>G (p.Ala775=)
|
rs1344474912
|
|
NM_005751.5(AKAP9):c.2331T>C (p.Asn777=)
|
|
|
NM_005751.5(AKAP9):c.2394C>T (p.Ser798=)
|
|
|
NM_005751.5(AKAP9):c.2433C>G (p.Ser811=)
|
|
|
NM_005751.5(AKAP9):c.24G>A (p.Lys8=)
|
|
|
NM_005751.5(AKAP9):c.2529T>C (p.Ile843=)
|
|
|
NM_005751.5(AKAP9):c.2673T>C (p.Ser891=)
|
|
|
NM_005751.5(AKAP9):c.2728G>C (p.Val910Leu)
|
rs564064961
|
|
NM_005751.5(AKAP9):c.2754T>C (p.Asp918=)
|
|
|
NM_005751.5(AKAP9):c.2844C>G (p.Thr948=)
|
|
|
NM_005751.5(AKAP9):c.2945C>A (p.Ser982Tyr)
|
rs374340343
|
|
NM_005751.5(AKAP9):c.2974T>C (p.Leu992=)
|
|
|
NM_005751.5(AKAP9):c.306+10C>T
|
|
|
NM_005751.5(AKAP9):c.307-5T>G
|
|
|
NM_005751.5(AKAP9):c.30G>T (p.Leu10=)
|
|
|
NM_005751.5(AKAP9):c.3108T>G (p.Ser1036=)
|
|
|
NM_005751.5(AKAP9):c.3318+14_3318+16del
|
|
|
NM_005751.5(AKAP9):c.3318+20T>C
|
|
|
NM_005751.5(AKAP9):c.3318+9_3318+12del
|
|
|
NM_005751.5(AKAP9):c.3319-7_3319-3del
|
|
|
NM_005751.5(AKAP9):c.3426T>C (p.Ala1142=)
|
rs758236336
|
|
NM_005751.5(AKAP9):c.3432C>T (p.Cys1144=)
|
|
|
NM_005751.5(AKAP9):c.3564T>C (p.Ile1188=)
|
|
|
NM_005751.5(AKAP9):c.3630T>G (p.Leu1210=)
|
|
|
NM_005751.5(AKAP9):c.3663A>G (p.Glu1221=)
|
|
|
NM_005751.5(AKAP9):c.3729A>G (p.Gln1243=)
|
rs1801493738
|
|
NM_005751.5(AKAP9):c.3751+17A>G
|
|
|
NM_005751.5(AKAP9):c.3752-12T>C
|
|
|
NM_005751.5(AKAP9):c.3828A>G (p.Arg1276=)
|
rs143259647
|
|
NM_005751.5(AKAP9):c.3838-4A>T
|
rs565812419
|
|
NM_005751.5(AKAP9):c.387G>A (p.Lys129=)
|
|
|
NM_005751.5(AKAP9):c.3886A>G (p.Asn1296Asp)
|
rs753029277
|
|
NM_005751.5(AKAP9):c.3952+11A>T
|
|
|
NM_005751.5(AKAP9):c.3953-15_3953-12del
|
rs780465671
|
|
NM_005751.5(AKAP9):c.3953-19G>A
|
|
|
NM_005751.5(AKAP9):c.3953-5C>T
|
rs2130731737
|
|
NM_005751.5(AKAP9):c.3975A>G (p.Leu1325=)
|
rs773067200
|
|
NM_005751.5(AKAP9):c.399A>G (p.Leu133=)
|
rs2130634149
|
|
NM_005751.5(AKAP9):c.4041A>C (p.Ile1347=)
|
|
|
NM_005751.5(AKAP9):c.4086G>A (p.Glu1362=)
|
rs2130732323
|
|
NM_005751.5(AKAP9):c.4143G>T (p.Pro1381=)
|
|
|
NM_005751.5(AKAP9):c.4148+15A>G
|
|
|
NM_005751.5(AKAP9):c.4149-12A>G
|
rs768017962
|
|
NM_005751.5(AKAP9):c.4245+15A>G
|
|
|
NM_005751.5(AKAP9):c.4246-9T>C
|
|
|
NM_005751.5(AKAP9):c.4248T>C (p.Phe1416=)
|
|
|
NM_005751.5(AKAP9):c.4266G>A (p.Val1422=)
|
rs1486993423
|
|
NM_005751.5(AKAP9):c.429T>C (p.Asp143=)
|
rs2130637240
|
|
NM_005751.5(AKAP9):c.4302A>G (p.Lys1434=)
|
rs1554422424
|
|
NM_005751.5(AKAP9):c.4338+11A>G
|
|
|
NM_005751.5(AKAP9):c.4338+14T>G
|
|
|
NM_005751.5(AKAP9):c.4338+20G>A
|
|
|
NM_005751.5(AKAP9):c.4338+7T>G
|
|
|
NM_005751.5(AKAP9):c.4339-6C>A
|
rs1805528445
|
|
NM_005751.5(AKAP9):c.4362A>C (p.Ala1454=)
|
|
|
NM_005751.5(AKAP9):c.4410T>C (p.Asn1470=)
|
|
|
NM_005751.5(AKAP9):c.441A>G (p.Glu147=)
|
rs185898118
|
|
NM_005751.5(AKAP9):c.441A>T (p.Glu147Asp)
|
rs185898118
|
|
NM_005751.5(AKAP9):c.4452A>G (p.Glu1484=)
|
rs2130776645
|
|
NM_005751.5(AKAP9):c.453A>G (p.Gln151=)
|
rs1312487005
|
|
NM_005751.5(AKAP9):c.4563A>G (p.Leu1521=)
|
|
|
NM_005751.5(AKAP9):c.462G>A (p.Pro154=)
|
|
|
NM_005751.5(AKAP9):c.4647A>G (p.Ser1549=)
|
rs199683551
|
|
NM_005751.5(AKAP9):c.4674A>G (p.Thr1558=)
|
|
|
NM_005751.5(AKAP9):c.4692+16T>C
|
|
|
NM_005751.5(AKAP9):c.4692+16T>G
|
|
|
NM_005751.5(AKAP9):c.4693-20T>G
|
|
|
NM_005751.5(AKAP9):c.4693-7A>G
|
rs774789362
|
|
NM_005751.5(AKAP9):c.4695T>C (p.Ile1565=)
|
rs1805948665
|
|
NM_005751.5(AKAP9):c.4731T>C (p.Ser1577=)
|
rs1563032741
|
|
NM_005751.5(AKAP9):c.4744T>C (p.Leu1582=)
|
|
|
NM_005751.5(AKAP9):c.4758G>A (p.Gln1586=)
|
|
|
NM_005751.5(AKAP9):c.4779A>G (p.Glu1593=)
|
|
|
NM_005751.5(AKAP9):c.4788A>G (p.Arg1596=)
|
|
|
NM_005751.5(AKAP9):c.48+10C>T
|
rs1217103896
|
|
NM_005751.5(AKAP9):c.48+14A>T
|
|
|
NM_005751.5(AKAP9):c.48+20C>T
|
|
|
NM_005751.5(AKAP9):c.48+5GA[3]
|
rs1554367063
|
|
NM_005751.5(AKAP9):c.4824A>G (p.Leu1608=)
|
|
|
NM_005751.5(AKAP9):c.4825_4826delinsCA (p.Arg1609Gln)
|
rs786205707
|
|
NM_005751.5(AKAP9):c.483A>G (p.Glu161=)
|
|
|
NM_005751.5(AKAP9):c.4893G>A (p.Lys1631=)
|
|
|
NM_005751.5(AKAP9):c.4899T>C (p.Leu1633=)
|
|
|
NM_005751.5(AKAP9):c.4917+20C>A
|
|
|
NM_005751.5(AKAP9):c.4918-12T>C
|
|
|
NM_005751.5(AKAP9):c.4923C>A (p.Ser1641=)
|
rs755109971
|
|
NM_005751.5(AKAP9):c.4969T>C (p.Leu1657=)
|
|
|
NM_005751.5(AKAP9):c.4998G>A (p.Leu1666=)
|
rs2130784499
|
|
NM_005751.5(AKAP9):c.5058+10A>G
|
|
|
NM_005751.5(AKAP9):c.5058+17C>T
|
rs751101680
|
|
NM_005751.5(AKAP9):c.5058+18C>A
|
|
|
NM_005751.5(AKAP9):c.5058+9G>C
|
rs750169072
|
|
NM_005751.5(AKAP9):c.5059-16A>G
|
|
|
NM_005751.5(AKAP9):c.5073C>T (p.Asn1691=)
|
rs2130785521
|
|
NM_005751.5(AKAP9):c.510G>A (p.Glu170=)
|
|
|
NM_005751.5(AKAP9):c.5112A>G (p.Glu1704=)
|
|
|
NM_005751.5(AKAP9):c.5157T>C (p.Asn1719=)
|
rs1584285458
|
|
NM_005751.5(AKAP9):c.5162+14G>T
|
|
|
NM_005751.5(AKAP9):c.5163-10A>G
|
|
|
NM_005751.5(AKAP9):c.5163-6A>G
|
|
|
NM_005751.5(AKAP9):c.5202C>T (p.Ile1734=)
|
|
|
NM_005751.5(AKAP9):c.5217A>G (p.Val1739=)
|
|
|
NM_005751.5(AKAP9):c.5265G>A (p.Gly1755=)
|
|
|
NM_005751.5(AKAP9):c.5369-12C>T
|
|
|
NM_005751.5(AKAP9):c.5369-8T>C
|
rs2130804658
|
|
NM_005751.5(AKAP9):c.5461C>T (p.Leu1821=)
|
|
|
NM_005751.5(AKAP9):c.5475T>C (p.Leu1825=)
|
rs2130804930
|
|
NM_005751.5(AKAP9):c.5496A>G (p.Gly1832=)
|
rs886062474
|
|
NM_005751.5(AKAP9):c.5568A>G (p.Lys1856=)
|
rs886039192
|
|
NM_005751.5(AKAP9):c.5602-10C>T
|
|
|
NM_005751.5(AKAP9):c.5602-10_5602-9del
|
|
|
NM_005751.5(AKAP9):c.5631G>A (p.Glu1877=)
|
|
|
NM_005751.5(AKAP9):c.567A>G (p.Gly189=)
|
rs2130637941
|
|
NM_005751.5(AKAP9):c.5754T>C (p.Ser1918=)
|
|
|
NM_005751.5(AKAP9):c.576+15T>G
|
rs2130638071
|
|
NM_005751.5(AKAP9):c.5764+16T>C
|
|
|
NM_005751.5(AKAP9):c.5802T>C (p.Phe1934=)
|
rs771217403
|
|
NM_005751.5(AKAP9):c.5907C>A (p.Ile1969=)
|
rs1554440805
|
|
NM_005751.5(AKAP9):c.5910A>G (p.Gln1970=)
|
|
|
NM_005751.5(AKAP9):c.5923T>C (p.Leu1975=)
|
rs202199870
|
|
NM_005751.5(AKAP9):c.5967A>G (p.Pro1989=)
|
|
|
NM_005751.5(AKAP9):c.5977+20G>T
|
|
|
NM_005751.5(AKAP9):c.5978-18T>C
|
|
|
NM_005751.5(AKAP9):c.5979A>G (p.Gln1993=)
|
|
|
NM_005751.5(AKAP9):c.6018A>G (p.Leu2006=)
|
rs547028589
|
|
NM_005751.5(AKAP9):c.6123A>G (p.Glu2041=)
|
rs2130830658
|
|
NM_005751.5(AKAP9):c.6129A>G (p.Glu2043=)
|
rs1810606397
|
|
NM_005751.5(AKAP9):c.6210+10C>T
|
|
|
NM_005751.5(AKAP9):c.6210+18G>A
|
|
|
NM_005751.5(AKAP9):c.6210+18G>T
|
rs768368516
|
|
NM_005751.5(AKAP9):c.6252A>G (p.Gln2084=)
|
|
|
NM_005751.5(AKAP9):c.6282T>G (p.Leu2094=)
|
rs2130832903
|
|
NM_005751.5(AKAP9):c.6294T>C (p.Pro2098=)
|
rs780961744
|
|
NM_005751.5(AKAP9):c.6330+7A>G
|
|
|
NM_005751.5(AKAP9):c.6331-10T>G
|
|
|
NM_005751.5(AKAP9):c.6331-9A>G
|
|
|
NM_005751.5(AKAP9):c.6333T>C (p.Val2111=)
|
|
|
NM_005751.5(AKAP9):c.6357A>G (p.Lys2119=)
|
|
|
NM_005751.5(AKAP9):c.654A>G (p.Arg218=)
|
rs998815963
|
|
NM_005751.5(AKAP9):c.6612+16T>C
|
|
|
NM_005751.5(AKAP9):c.6613-18A>C
|
|
|
NM_005751.5(AKAP9):c.669G>A (p.Glu223=)
|
|
|
NM_005751.5(AKAP9):c.6766-18A>C
|
|
|
NM_005751.5(AKAP9):c.6766-4C>T
|
rs1584452484
|
|
NM_005751.5(AKAP9):c.6801A>G (p.Glu2267=)
|
|
|
NM_005751.5(AKAP9):c.687A>G (p.Leu229=)
|
|
|
NM_005751.5(AKAP9):c.6946-11T>C
|
|
|
NM_005751.5(AKAP9):c.6946-5A>G
|
|
|
NM_005751.5(AKAP9):c.6946-6del
|
rs750471110
|
|
NM_005751.5(AKAP9):c.6966A>G (p.Glu2322=)
|
rs878854809
|
|
NM_005751.5(AKAP9):c.696A>C (p.Thr232=)
|
|
|
NM_005751.5(AKAP9):c.6G>A (p.Glu2=)
|
|
|
NM_005751.5(AKAP9):c.7068T>C (p.Ile2356=)
|
rs1584459436
|
|
NM_005751.5(AKAP9):c.7087T>C (p.Leu2363=)
|
rs2130860874
|
|
NM_005751.5(AKAP9):c.7131C>T (p.Leu2377=)
|
|
|
NM_005751.5(AKAP9):c.7140A>C (p.Glu2380Asp)
|
rs553736782
|
|
NM_005751.5(AKAP9):c.7140A>G (p.Glu2380=)
|
rs553736782
|
|
NM_005751.5(AKAP9):c.7167T>C (p.Asp2389=)
|
|
|
NM_005751.5(AKAP9):c.7173T>C (p.Val2391=)
|
|
|
NM_005751.5(AKAP9):c.7188G>A (p.Leu2396=)
|
rs1554450559
|
|
NM_005751.5(AKAP9):c.732+11C>G
|
|
|
NM_005751.5(AKAP9):c.733-17T>C
|
|
|
NM_005751.5(AKAP9):c.733-19G>A
|
rs540214739
|
|
NM_005751.5(AKAP9):c.733-7T>C
|
|
|
NM_005751.5(AKAP9):c.7404C>T (p.Val2468=)
|
|
|
NM_005751.5(AKAP9):c.7422T>C (p.Leu2474=)
|
rs1178839853
|
|
NM_005751.5(AKAP9):c.7440G>A (p.Gln2480=)
|
|
|
NM_005751.5(AKAP9):c.7443A>G (p.Thr2481=)
|
|
|
NM_005751.5(AKAP9):c.7530A>C (p.Ala2510=)
|
|
|
NM_005751.5(AKAP9):c.753G>A (p.Leu251=)
|
|
|
NM_005751.5(AKAP9):c.7551G>A (p.Gln2517=)
|
|
|
NM_005751.5(AKAP9):c.7578A>G (p.Gln2526=)
|
|
|
NM_005751.5(AKAP9):c.7629A>T (p.Leu2543=)
|
|
|
NM_005751.5(AKAP9):c.7857T>C (p.His2619=)
|
|
|
NM_005751.5(AKAP9):c.78G>A (p.Gln26=)
|
rs1030567089
|
|
NM_005751.5(AKAP9):c.7938A>G (p.Leu2646=)
|
|
|
NM_005751.5(AKAP9):c.7941G>A (p.Gln2647=)
|
rs2130862979
|
|
NM_005751.5(AKAP9):c.7965A>G (p.Lys2655=)
|
|
|
NM_005751.5(AKAP9):c.7980A>G (p.Lys2660=)
|
|
|
NM_005751.5(AKAP9):c.7989A>G (p.Lys2663=)
|
|
|
NM_005751.5(AKAP9):c.8019+12A>G
|
|
|
NM_005751.5(AKAP9):c.8020-12G>T
|
rs779767584
|
|
NM_005751.5(AKAP9):c.8020-13C>T
|
|
|
NM_005751.5(AKAP9):c.8020-13del
|
|
|
NM_005751.5(AKAP9):c.8022A>G (p.Thr2674=)
|
|
|
NM_005751.5(AKAP9):c.813C>T (p.Leu271=)
|
rs776451600
|
|
NM_005751.5(AKAP9):c.8160+15A>G
|
|
|
NM_005751.5(AKAP9):c.8160+17A>G
|
|
|
NM_005751.5(AKAP9):c.8161-13C>T
|
|
|
NM_005751.5(AKAP9):c.8244C>T (p.Ser2748=)
|
|
|
NM_005751.5(AKAP9):c.8277A>G (p.Gln2759=)
|
|
|
NM_005751.5(AKAP9):c.8328G>A (p.Lys2776=)
|
|
|
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile)
|
rs543634397
|
|
NM_005751.5(AKAP9):c.8358G>A (p.Leu2786=)
|
rs761088888
|
|
NM_005751.5(AKAP9):c.8367T>C (p.Ser2789=)
|
|
|
NM_005751.5(AKAP9):c.8388A>G (p.Gln2796=)
|
|
|
NM_005751.5(AKAP9):c.8394T>A (p.Leu2798=)
|
|
|
NM_005751.5(AKAP9):c.8397T>A (p.Val2799=)
|
|
|
NM_005751.5(AKAP9):c.8589A>G (p.Leu2863=)
|
|
|
NM_005751.5(AKAP9):c.8598G>A (p.Glu2866=)
|
rs144893755
|
|
NM_005751.5(AKAP9):c.8613G>A (p.Leu2871=)
|
rs780211536
|
|
NM_005751.5(AKAP9):c.8646+16A>G
|
|
|
NM_005751.5(AKAP9):c.8646+16_8646+20del
|
|
|
NM_005751.5(AKAP9):c.8646+20T>C
|
|
|
NM_005751.5(AKAP9):c.8646+8G>A
|
rs878854811
|
|
NM_005751.5(AKAP9):c.8647-8C>T
|
rs1331786459
|
|
NM_005751.5(AKAP9):c.8652C>G (p.Ser2884=)
|
|
|
NM_005751.5(AKAP9):c.8710+10A>G
|
|
|
NM_005751.5(AKAP9):c.8710+13A>C
|
rs372771420
|
|
NM_005751.5(AKAP9):c.8711-11C>A
|
|
|
NM_005751.5(AKAP9):c.8711-15T>C
|
|
|
NM_005751.5(AKAP9):c.873A>G (p.Lys291=)
|
rs2130646545
|
|
NM_005751.5(AKAP9):c.8748A>T (p.Thr2916=)
|
|
|
NM_005751.5(AKAP9):c.8781C>G (p.Gly2927=)
|
rs2130874169
|
|
NM_005751.5(AKAP9):c.8782C>A (p.Arg2928=)
|
|
|
NM_005751.5(AKAP9):c.8805A>T (p.Ala2935=)
|
|
|
NM_005751.5(AKAP9):c.8832+16T>C
|
|
|
NM_005751.5(AKAP9):c.8832+17A>G
|
rs2130874381
|
|
NM_005751.5(AKAP9):c.8833-17del
|
rs2130875372
|
|
NM_005751.5(AKAP9):c.8894A>G (p.Tyr2965Cys)
|
rs201958512
|
|
NM_005751.5(AKAP9):c.8958T>C (p.Ala2986=)
|
|
|
NM_005751.5(AKAP9):c.8961C>T (p.Tyr2987=)
|
|
|
NM_005751.5(AKAP9):c.9021C>T (p.Ala3007=)
|
|
|
NM_005751.5(AKAP9):c.9024+19G>T
|
|
|
NM_005751.5(AKAP9):c.9025-16A>G
|
|
|
NM_005751.5(AKAP9):c.9072T>C (p.Gly3024=)
|
|
|
NM_005751.5(AKAP9):c.9072T>G (p.Gly3024=)
|
|
|
NM_005751.5(AKAP9):c.9124C>T (p.Leu3042=)
|
rs1447756030
|
|
NM_005751.5(AKAP9):c.9129A>G (p.Ala3043=)
|
rs1584492921
|
|
NM_005751.5(AKAP9):c.9180A>G (p.Leu3060=)
|
|
|
NM_005751.5(AKAP9):c.9183A>G (p.Leu3061=)
|
|
|
NM_005751.5(AKAP9):c.9214-11C>G
|
rs2130883508
|
|
NM_005751.5(AKAP9):c.9214-7G>T
|
rs772360609
|
|
NM_005751.5(AKAP9):c.9258T>C (p.Asp3086=)
|
|
|
NM_005751.5(AKAP9):c.9276T>C (p.Ser3092=)
|
|
|
NM_005751.5(AKAP9):c.9291G>A (p.Leu3097=)
|
rs2130883743
|
|
NM_005751.5(AKAP9):c.930+9_930+12del
|
rs1798327943
|
|
NM_005751.5(AKAP9):c.9358+10A>T
|
rs180926926
|
|
NM_005751.5(AKAP9):c.9359-14C>A
|
|
|
NM_005751.5(AKAP9):c.9359-16dup
|
|
|
NM_005751.5(AKAP9):c.9359-19_9359-18dup
|
|
|
NM_005751.5(AKAP9):c.9359-4G>A
|
rs983991110
|
|
NM_005751.5(AKAP9):c.9359-5T>C
|
rs2130891619
|
|
NM_005751.5(AKAP9):c.9359-6G>A
|
|
|
NM_005751.5(AKAP9):c.9375T>C (p.Asn3125=)
|
|
|
NM_005751.5(AKAP9):c.9462G>A (p.Leu3154=)
|
|
|
NM_005751.5(AKAP9):c.9528A>G (p.Glu3176=)
|
|
|
NM_005751.5(AKAP9):c.9561A>G (p.Lys3187=)
|
rs963431431
|
|
NM_005751.5(AKAP9):c.9565T>C (p.Leu3189=)
|
|
|
NM_005751.5(AKAP9):c.9570G>A (p.Glu3190=)
|
rs2130892145
|
|
NM_005751.5(AKAP9):c.9579-6A>T
|
|
|
NM_005751.5(AKAP9):c.9600A>G (p.Thr3200=)
|
rs2130896403
|
|
NM_005751.5(AKAP9):c.963A>G (p.Lys321=)
|
rs2130662268
|
|
NM_005751.5(AKAP9):c.9729+13T>C
|
|
|
NM_005751.5(AKAP9):c.9730-8C>T
|
|
|
NM_005751.5(AKAP9):c.9735G>A (p.Leu3245=)
|
|
|
NM_005751.5(AKAP9):c.9789G>A (p.Leu3263=)
|
rs2130900549
|
|
NM_005751.5(AKAP9):c.9807A>G (p.Leu3269=)
|
rs773519823
|
|
NM_005751.5(AKAP9):c.9858C>T (p.Ala3286=)
|
|
|
NM_005751.5(AKAP9):c.9915G>A (p.Glu3305=)
|
rs878854813
|
|
NM_006888.6(CALM1):c.108C>T (p.Val36=)
|
rs1476676874
|
|
NM_006888.6(CALM1):c.118C>T (p.Leu40=)
|
rs2139767906
|
|
NM_006888.6(CALM1):c.150G>A (p.Gln50=)
|
|
|
NM_006888.6(CALM1):c.178+16C>A
|
|
|
NM_006888.6(CALM1):c.178+20G>T
|
|
|
NM_006888.6(CALM1):c.179-14T>C
|
|
|
NM_006888.6(CALM1):c.179-17T>G
|
|
|
NM_006888.6(CALM1):c.179-4C>T
|
|
|
NM_006888.6(CALM1):c.198C>T (p.Phe66=)
|
|
|
NM_006888.6(CALM1):c.213T>C (p.Thr71=)
|
|
|
NM_006888.6(CALM1):c.225A>G (p.Arg75=)
|
rs1887098758
|
|
NM_006888.6(CALM1):c.234A>G (p.Lys78=)
|
|
|
NM_006888.6(CALM1):c.237T>C (p.Asp79=)
|
|
|
NM_006888.6(CALM1):c.264G>A (p.Glu88=)
|
|
|
NM_006888.6(CALM1):c.267A>G (p.Ala89=)
|
rs2139771046
|
|
NM_006888.6(CALM1):c.27G>A (p.Gln9=)
|
|
|
NM_006888.6(CALM1):c.285+12T>A
|
|
|
NM_006888.6(CALM1):c.285+15A>G
|
|
|
NM_006888.6(CALM1):c.286-9T>C
|
|
|
NM_006888.6(CALM1):c.3+10G>C
|
|
|
NM_006888.6(CALM1):c.3+14G>T
|
|
|
NM_006888.6(CALM1):c.327C>T (p.Val109=)
|
|
|
NM_006888.6(CALM1):c.336C>T (p.Asn112=)
|
|
|
NM_006888.6(CALM1):c.34+12A>C
|
rs752987778
|
|
NM_006888.6(CALM1):c.34+12A>G
|
|
|
NM_006888.6(CALM1):c.34+16C>T
|
rs758632437
|
|
NM_006888.6(CALM1):c.35-13del
|
rs1555365883
|
|
NM_006888.6(CALM1):c.35-14A>G
|
|
|
NM_006888.6(CALM1):c.35-19G>A
|
|
|
NM_006888.6(CALM1):c.390T>C (p.Asp130=)
|
rs2139771676
|
|
NM_006888.6(CALM1):c.4-6A>T
|
|
|
NM_006888.6(CALM1):c.4-7C>T
|
|
|
NM_006888.6(CALM1):c.411C>G (p.Val137=)
|
rs749827346
|
|
NM_006888.6(CALM1):c.421+10A>G
|
|
|
NM_006888.6(CALM1):c.421+6dup
|
rs2139771726
|
|
NM_006888.6(CALM1):c.421+7_421+10del
|
rs771894805
|
|
NM_006888.6(CALM1):c.422-15T>C
|
|
|
NM_006888.6(CALM1):c.422-19A>G
|
|
|
NM_006888.6(CALM1):c.84C>T (p.Ile28=)
|
|
|
NM_006888.6(CALM1):c.87A>C (p.Thr29=)
|
rs2139767870
|
|
NM_006888.6(CALM1):c.90A>C (p.Thr30=)
|
rs1595100965
|
|
NM_015335.5(MED13L):c.1010-12C>T
|
|
|
NM_015335.5(MED13L):c.1010-4dup
|
rs771044608
|
|
NM_015335.5(MED13L):c.1010-6T>G
|
|
|
NM_015335.5(MED13L):c.1064G>A (p.Gly355Glu)
|
|
|
NM_015335.5(MED13L):c.1086A>G (p.Pro362=)
|
rs2137415289
|
|
NM_015335.5(MED13L):c.1164A>G (p.Arg388=)
|
rs1566011405
|
|
NM_015335.5(MED13L):c.1175+12C>T
|
|
|
NM_015335.5(MED13L):c.1176-9C>A
|
|
|
NM_015335.5(MED13L):c.1280+11A>G
|
|
|
NM_015335.5(MED13L):c.1281-17G>A
|
|
|
NM_015335.5(MED13L):c.1297C>T (p.Arg433Cys)
|
|
|
NM_015335.5(MED13L):c.1319G>A (p.Arg440Gln)
|
|
|
NM_015335.5(MED13L):c.1328C>T (p.Thr443Ile)
|
|
|
NM_015335.5(MED13L):c.1344G>A (p.Gly448=)
|
|
|
NM_015335.5(MED13L):c.1362A>G (p.Ser454=)
|
|
|
NM_015335.5(MED13L):c.1394C>T (p.Ser465Phe)
|
|
|
NM_015335.5(MED13L):c.147C>A (p.Ala49=)
|
|
|
NM_015335.5(MED13L):c.1482C>T (p.Ala494=)
|
|
|
NM_015335.5(MED13L):c.1483G>A (p.Glu495Lys)
|
|
|
NM_015335.5(MED13L):c.1563C>T (p.Ser521=)
|
|
|
NM_015335.5(MED13L):c.1617A>C (p.Gln539His)
|
|
|
NM_015335.5(MED13L):c.1617A>G (p.Gln539=)
|
|
|
NM_015335.5(MED13L):c.1689A>T (p.Pro563=)
|
|
|
NM_015335.5(MED13L):c.1722A>G (p.Pro574=)
|
|
|
NM_015335.5(MED13L):c.1724C>T (p.Ser575Leu)
|
rs377144746
|
|
NM_015335.5(MED13L):c.1728C>T (p.Val576=)
|
|
|
NM_015335.5(MED13L):c.1758A>T (p.Gly586=)
|
|
|
NM_015335.5(MED13L):c.1780A>G (p.Thr594Ala)
|
|
|
NM_015335.5(MED13L):c.1784T>C (p.Leu595Pro)
|
rs750811062
|
|
NM_015335.5(MED13L):c.1785G>C (p.Leu595=)
|
rs1592942104
|
|
NM_015335.5(MED13L):c.1797T>C (p.Thr599=)
|
|
|
NM_015335.5(MED13L):c.1871C>T (p.Ser624Leu)
|
|
|
NM_015335.5(MED13L):c.1884A>T (p.Ser628=)
|
|
|
NM_015335.5(MED13L):c.1914C>T (p.Leu638=)
|
rs1279215396
|
|
NM_015335.5(MED13L):c.192G>C (p.Leu64=)
|
|
|
NM_015335.5(MED13L):c.1969G>A (p.Asp657Asn)
|
rs760771799
|
|
NM_015335.5(MED13L):c.2012+12C>G
|
|
|
NM_015335.5(MED13L):c.2013-10_2013-9insTG
|
rs1555247737
|
|
NM_015335.5(MED13L):c.2013-10_2013-9insTTG
|
|
|
NM_015335.5(MED13L):c.2013-9dup
|
|
|
NM_015335.5(MED13L):c.2022A>C (p.Ala674=)
|
|
|
NM_015335.5(MED13L):c.2036G>A (p.Arg679Gln)
|
rs1366343903
|
|
NM_015335.5(MED13L):c.2097G>A (p.Leu699=)
|
|
|
NM_015335.5(MED13L):c.2109A>G (p.Gln703=)
|
|
|
NM_015335.5(MED13L):c.2175C>T (p.Tyr725=)
|
|
|
NM_015335.5(MED13L):c.2220T>G (p.Asp740Glu)
|
|
|
NM_015335.5(MED13L):c.2222C>G (p.Ser741Cys)
|
|
|
NM_015335.5(MED13L):c.2226G>C (p.Leu742=)
|
|
|
NM_015335.5(MED13L):c.2238+13A>T
|
|
|
NM_015335.5(MED13L):c.2238+13dup
|
|
|
NM_015335.5(MED13L):c.2260A>G (p.Lys754Glu)
|
|
|
NM_015335.5(MED13L):c.2268C>G (p.Val756=)
|
|
|
NM_015335.5(MED13L):c.230A>G (p.Lys77Arg)
|
|
|
NM_015335.5(MED13L):c.2320A>G (p.Ile774Val)
|
|
|
NM_015335.5(MED13L):c.2344+13A>G
|
|
|
NM_015335.5(MED13L):c.2345-8T>G
|
|
|
NM_015335.5(MED13L):c.2352G>A (p.Arg784=)
|
rs1226259653
|
|
NM_015335.5(MED13L):c.2352G>T (p.Arg784=)
|
rs1226259653
|
|
NM_015335.5(MED13L):c.2469+11C>T
|
|
|
NM_015335.5(MED13L):c.2469+18A>G
|
|
|
NM_015335.5(MED13L):c.2470-12G>A
|
|
|
NM_015335.5(MED13L):c.2485C>T (p.Leu829=)
|
|
|
NM_015335.5(MED13L):c.2489G>A (p.Arg830His)
|
|
|
NM_015335.5(MED13L):c.2523C>T (p.Asp841=)
|
|
|
NM_015335.5(MED13L):c.2569+16T>A
|
|
|
NM_015335.5(MED13L):c.2570-14T>C
|
|
|
NM_015335.5(MED13L):c.2570-15A>T
|
|
|
NM_015335.5(MED13L):c.2570-8A>T
|
|
|
NM_015335.5(MED13L):c.2604A>G (p.Pro868=)
|
rs772409015
|
|
NM_015335.5(MED13L):c.2621A>C (p.His874Pro)
|
|
|
NM_015335.5(MED13L):c.2648A>G (p.Tyr883Cys)
|
|
|
NM_015335.5(MED13L):c.278A>G (p.Asn93Ser)
|
|
|
NM_015335.5(MED13L):c.2790+11A>G
|
|
|
NM_015335.5(MED13L):c.2790+12T>C
|
|
|
NM_015335.5(MED13L):c.2790+18A>G
|
|
|
NM_015335.5(MED13L):c.2826A>G (p.Gln942=)
|
|
|
NM_015335.5(MED13L):c.2832T>A (p.Phe944Leu)
|
rs764385703
|
|
NM_015335.5(MED13L):c.2886A>C (p.Leu962=)
|
|
|
NM_015335.5(MED13L):c.2911C>T (p.Leu971=)
|
rs2137328447
|
|
NM_015335.5(MED13L):c.2925A>G (p.Ser975=)
|
|
|
NM_015335.5(MED13L):c.2925A>T (p.Ser975=)
|
|
|
NM_015335.5(MED13L):c.2932A>G (p.Ile978Val)
|
|
|
NM_015335.5(MED13L):c.2959A>G (p.Met987Val)
|
|
|
NM_015335.5(MED13L):c.2996+7A>G
|
|
|
NM_015335.5(MED13L):c.3015G>C (p.Gly1005=)
|
|
|
NM_015335.5(MED13L):c.3018C>T (p.Ser1006=)
|
|
|
NM_015335.5(MED13L):c.3064G>A (p.Val1022Met)
|
|
|
NM_015335.5(MED13L):c.3078C>T (p.Ser1026=)
|
|
|
NM_015335.5(MED13L):c.3095A>G (p.Asn1032Ser)
|
|
|
NM_015335.5(MED13L):c.311-10_311-4del
|
|
|
NM_015335.5(MED13L):c.311-20T>C
|
|
|
NM_015335.5(MED13L):c.311-21_311-16del
|
|
|
NM_015335.5(MED13L):c.311-4dup
|
rs150398214
|
|
NM_015335.5(MED13L):c.3114A>G (p.Leu1038=)
|
|
|
NM_015335.5(MED13L):c.3123A>C (p.Pro1041=)
|
|
|
NM_015335.5(MED13L):c.3165G>A (p.Arg1055=)
|
|
|
NM_015335.5(MED13L):c.3207A>G (p.Gln1069=)
|
|
|
NM_015335.5(MED13L):c.3213T>C (p.Ser1071=)
|
|
|
NM_015335.5(MED13L):c.3255C>T (p.Thr1085=)
|
|
|
NM_015335.5(MED13L):c.3258C>G (p.Pro1086=)
|
|
|
NM_015335.5(MED13L):c.327C>T (p.Leu109=)
|
|
|
NM_015335.5(MED13L):c.3285G>A (p.Val1095=)
|
|
|
NM_015335.5(MED13L):c.3327C>T (p.Leu1109=)
|
|
|
NM_015335.5(MED13L):c.3336C>T (p.Thr1112=)
|
|
|
NM_015335.5(MED13L):c.3347C>A (p.Ser1116Tyr)
|
rs1878063256
|
|
NM_015335.5(MED13L):c.3369T>C (p.Phe1123=)
|
|
|
NM_015335.5(MED13L):c.3396C>T (p.Cys1132=)
|
|
|
NM_015335.5(MED13L):c.3450C>A (p.Pro1150=)
|
|
|
NM_015335.5(MED13L):c.3498G>A (p.Ala1166=)
|
rs200960898
|
|
NM_015335.5(MED13L):c.3522C>T (p.Tyr1174=)
|
|
|
NM_015335.5(MED13L):c.3595A>G (p.Arg1199Gly)
|
|
|
NM_015335.5(MED13L):c.359C>T (p.Thr120Met)
|
|
|
NM_015335.5(MED13L):c.3647A>G (p.Lys1216Arg)
|
|
|
NM_015335.5(MED13L):c.3682C>T (p.Leu1228Phe)
|
|
|
NM_015335.5(MED13L):c.3694C>A (p.Gln1232Lys)
|
|
|
NM_015335.5(MED13L):c.3726C>T (p.Phe1242=)
|
rs1422363356
|
|
NM_015335.5(MED13L):c.3734A>G (p.Tyr1245Cys)
|
rs1878039306
|
|
NM_015335.5(MED13L):c.3741C>T (p.Ser1247=)
|
|
|
NM_015335.5(MED13L):c.3751C>T (p.Arg1251Cys)
|
|
|
NM_015335.5(MED13L):c.3783T>C (p.Tyr1261=)
|
|
|
NM_015335.5(MED13L):c.3789G>C (p.Arg1263=)
|
|
|
NM_015335.5(MED13L):c.3801T>A (p.Asp1267Glu)
|
|
|
NM_015335.5(MED13L):c.3882G>A (p.Val1294=)
|
|
|
NM_015335.5(MED13L):c.3885C>T (p.Asp1295=)
|
|
|
NM_015335.5(MED13L):c.3927C>T (p.His1309=)
|
|
|
NM_015335.5(MED13L):c.3929G>A (p.Ser1310Asn)
|
|
|
NM_015335.5(MED13L):c.3930C>T (p.Ser1310=)
|
|
|
NM_015335.5(MED13L):c.3935-9C>A
|
|
|
NM_015335.5(MED13L):c.395+8A>G
|
|
|
NM_015335.5(MED13L):c.395+9A>G
|
|
|
NM_015335.5(MED13L):c.396-14T>C
|
|
|
NM_015335.5(MED13L):c.3960C>T (p.Ser1320=)
|
|
|
NM_015335.5(MED13L):c.4002C>G (p.Leu1334=)
|
rs772069193
|
|
NM_015335.5(MED13L):c.4065A>G (p.Gly1355=)
|
|
|
NM_015335.5(MED13L):c.4114+17G>A
|
|
|
NM_015335.5(MED13L):c.4114+8C>A
|
|
|
NM_015335.5(MED13L):c.4114+8C>G
|
|
|
NM_015335.5(MED13L):c.4115-18A>G
|
|
|
NM_015335.5(MED13L):c.4119G>A (p.Ser1373=)
|
|
|
NM_015335.5(MED13L):c.4144A>G (p.Ile1382Val)
|
|
|
NM_015335.5(MED13L):c.4158G>C (p.Leu1386=)
|
rs2137287371
|
|
NM_015335.5(MED13L):c.4161A>G (p.Val1387=)
|
|
|
NM_015335.5(MED13L):c.4191G>A (p.Ser1397=)
|
|
|
NM_015335.5(MED13L):c.4206G>A (p.Pro1402=)
|
|
|
NM_015335.5(MED13L):c.4217G>A (p.Arg1406Lys)
|
|
|
NM_015335.5(MED13L):c.4330G>A (p.Val1444Ile)
|
|
|
NM_015335.5(MED13L):c.4339-20G>T
|
|
|
NM_015335.5(MED13L):c.4347G>A (p.Arg1449=)
|
|
|
NM_015335.5(MED13L):c.4382G>A (p.Arg1461His)
|
|
|
NM_015335.5(MED13L):c.4405A>G (p.Lys1469Glu)
|
|
|
NM_015335.5(MED13L):c.4458G>A (p.Gln1486=)
|
|
|
NM_015335.5(MED13L):c.4461T>G (p.Pro1487=)
|
|
|
NM_015335.5(MED13L):c.4484A>G (p.Asn1495Ser)
|
|
|
NM_015335.5(MED13L):c.4509G>T (p.Ala1503=)
|
|
|
NM_015335.5(MED13L):c.4519C>T (p.Arg1507Cys)
|
|
|
NM_015335.5(MED13L):c.4531+17T>C
|
|
|
NM_015335.5(MED13L):c.4532-20C>G
|
|
|
NM_015335.5(MED13L):c.4569A>G (p.Leu1523=)
|
|
|
NM_015335.5(MED13L):c.4599A>G (p.Pro1533=)
|
|
|
NM_015335.5(MED13L):c.4625C>A (p.Pro1542Gln)
|
|
|
NM_015335.5(MED13L):c.4641C>T (p.Pro1547=)
|
|
|
NM_015335.5(MED13L):c.4699A>G (p.Asn1567Asp)
|
|
|
NM_015335.5(MED13L):c.4745C>T (p.Ser1582Phe)
|
|
|
NM_015335.5(MED13L):c.479+16G>A
|
|
|
NM_015335.5(MED13L):c.479+8T>C
|
rs2137816605
|
|
NM_015335.5(MED13L):c.480-15T>C
|
|
|
NM_015335.5(MED13L):c.480-9C>G
|
|
|
NM_015335.5(MED13L):c.480-9C>T
|
|
|
NM_015335.5(MED13L):c.4831G>A (p.Val1611Ile)
|
|
|
NM_015335.5(MED13L):c.4854T>G (p.Thr1618=)
|
|
|
NM_015335.5(MED13L):c.4875A>G (p.Arg1625=)
|
|
|
NM_015335.5(MED13L):c.4878G>A (p.Thr1626=)
|
|
|
NM_015335.5(MED13L):c.4932G>C (p.Gln1644His)
|
|
|
NM_015335.5(MED13L):c.4949A>G (p.Gln1650Arg)
|
|
|
NM_015335.5(MED13L):c.4953G>A (p.Glu1651=)
|
|
|
NM_015335.5(MED13L):c.4955+13_4955+14insAAT
|
|
|
NM_015335.5(MED13L):c.4962A>G (p.Thr1654=)
|
|
|
NM_015335.5(MED13L):c.5052G>C (p.Pro1684=)
|
|
|
NM_015335.5(MED13L):c.511C>T (p.Leu171=)
|
|
|
NM_015335.5(MED13L):c.5134G>A (p.Asp1712Asn)
|
rs1565992052
|
|
NM_015335.5(MED13L):c.5160T>C (p.Asn1720=)
|
rs2137270716
|
|
NM_015335.5(MED13L):c.5175+11G>A
|
|
|
NM_015335.5(MED13L):c.5175+19A>G
|
|
|
NM_015335.5(MED13L):c.5176-8G>A
|
|
|
NM_015335.5(MED13L):c.5181G>C (p.Val1727=)
|
rs2137265025
|
|
NM_015335.5(MED13L):c.5253A>G (p.Ala1751=)
|
|
|
NM_015335.5(MED13L):c.5283A>G (p.Pro1761=)
|
rs2137264574
|
|
NM_015335.5(MED13L):c.5284C>T (p.Leu1762=)
|
rs200641273
|
|
NM_015335.5(MED13L):c.5295G>A (p.Gln1765=)
|
|
|
NM_015335.5(MED13L):c.5308T>C (p.Ser1770Pro)
|
|
|
NM_015335.5(MED13L):c.5313C>T (p.Leu1771=)
|
rs1017360857
|
|
NM_015335.5(MED13L):c.5316G>A (p.Thr1772=)
|
rs746426523
|
|
NM_015335.5(MED13L):c.5365-15T>G
|
|
|
NM_015335.5(MED13L):c.5365-16T>C
|
|
|
NM_015335.5(MED13L):c.5365-18T>C
|
|
|
NM_015335.5(MED13L):c.5365-20G>T
|
|
|
NM_015335.5(MED13L):c.5365C>T (p.Arg1789Trp)
|
|
|
NM_015335.5(MED13L):c.5451T>C (p.Gly1817=)
|
|
|
NM_015335.5(MED13L):c.5457G>A (p.Ala1819=)
|
|
|
NM_015335.5(MED13L):c.5466A>G (p.Lys1822=)
|
|
|
NM_015335.5(MED13L):c.5482G>T (p.Val1828Leu)
|
|
|
NM_015335.5(MED13L):c.5490T>C (p.Tyr1830=)
|
|
|
NM_015335.5(MED13L):c.5493T>C (p.Cys1831=)
|
|
|
NM_015335.5(MED13L):c.5540A>G (p.His1847Arg)
|
|
|
NM_015335.5(MED13L):c.5589-15T>G
|
|
|
NM_015335.5(MED13L):c.5589-17A>G
|
|
|
NM_015335.5(MED13L):c.5589-29TTCCCC[3]
|
|
|
NM_015335.5(MED13L):c.5589-9A>G
|
|
|
NM_015335.5(MED13L):c.5594G>A (p.Arg1865Gln)
|
|
|
NM_015335.5(MED13L):c.5607A>T (p.Val1869=)
|
|
|
NM_015335.5(MED13L):c.5658T>A (p.Ile1886=)
|
rs1592904456
|
|
NM_015335.5(MED13L):c.5798G>A (p.Arg1933Gln)
|
|
|
NM_015335.5(MED13L):c.5802G>A (p.Met1934Ile)
|
rs554093251
|
|
NM_015335.5(MED13L):c.5817C>T (p.Ala1939=)
|
|
|
NM_015335.5(MED13L):c.5891-12T>C
|
|
|
NM_015335.5(MED13L):c.5891-16A>C
|
|
|
NM_015335.5(MED13L):c.5891-16A>G
|
|
|
NM_015335.5(MED13L):c.5891-8C>A
|
|
|
NM_015335.5(MED13L):c.5946A>G (p.Ser1982=)
|
|
|
NM_015335.5(MED13L):c.5985C>T (p.His1995=)
|
rs1366083664
|
|
NM_015335.5(MED13L):c.6037C>G (p.Pro2013Ala)
|
rs1387712841
|
|
NM_015335.5(MED13L):c.603G>T (p.Gln201His)
|
rs1880117720
|
|
NM_015335.5(MED13L):c.6057C>T (p.Ser2019=)
|
|
|
NM_015335.5(MED13L):c.6060C>T (p.Pro2020=)
|
|
|
NM_015335.5(MED13L):c.6067+16G>A
|
|
|
NM_015335.5(MED13L):c.6067+7A>T
|
|
|
NM_015335.5(MED13L):c.6068-13C>G
|
|
|
NM_015335.5(MED13L):c.6068-17T>C
|
|
|
NM_015335.5(MED13L):c.611C>T (p.Pro204Leu)
|
|
|
NM_015335.5(MED13L):c.6138C>T (p.Asn2046=)
|
|
|
NM_015335.5(MED13L):c.6189T>A (p.Ser2063=)
|
|
|
NM_015335.5(MED13L):c.625+15T>G
|
|
|
NM_015335.5(MED13L):c.625+16C>G
|
|
|
NM_015335.5(MED13L):c.625+8T>G
|
|
|
NM_015335.5(MED13L):c.626-12T>C
|
|
|
NM_015335.5(MED13L):c.626-13C>T
|
|
|
NM_015335.5(MED13L):c.6279G>A (p.Gln2093=)
|
|
|
NM_015335.5(MED13L):c.6303A>G (p.Val2101=)
|
|
|
NM_015335.5(MED13L):c.6387+11_6387+12insCTTAAAGGTTG
|
|
|
NM_015335.5(MED13L):c.6387+20A>G
|
|
|
NM_015335.5(MED13L):c.6387+8del
|
|
|
NM_015335.5(MED13L):c.6388-13G>A
|
|
|
NM_015335.5(MED13L):c.6388-21CT[2]
|
|
|
NM_015335.5(MED13L):c.6388-4C>T
|
|
|
NM_015335.5(MED13L):c.641A>G (p.Tyr214Cys)
|
|
|
NM_015335.5(MED13L):c.6435G>T (p.Leu2145=)
|
|
|
NM_015335.5(MED13L):c.6500+18C>T
|
|
|
NM_015335.5(MED13L):c.6501-18G>C
|
|
|
NM_015335.5(MED13L):c.6501-9C>G
|
rs2137182384
|
|
NM_015335.5(MED13L):c.6540G>A (p.Thr2180=)
|
rs371240974
|
|
NM_015335.5(MED13L):c.6582C>T (p.Val2194=)
|
|
|
NM_015335.5(MED13L):c.672A>G (p.Ala224=)
|
|
|
NM_015335.5(MED13L):c.70C>T (p.Leu24=)
|
|
|
NM_015335.5(MED13L):c.722A>G (p.Tyr241Cys)
|
rs564830776
|
|
NM_015335.5(MED13L):c.73-19A>T
|
|
|
NM_015335.5(MED13L):c.732G>A (p.Pro244=)
|
|
|
NM_015335.5(MED13L):c.732G>C (p.Pro244=)
|
|
|
NM_015335.5(MED13L):c.780A>G (p.Gly260=)
|
|
|
NM_015335.5(MED13L):c.789T>C (p.Asp263=)
|
|
|
NM_015335.5(MED13L):c.813A>G (p.Val271=)
|
|
|
NM_015335.5(MED13L):c.83C>T (p.Thr28Met)
|
|
|
NM_015335.5(MED13L):c.867G>C (p.Gln289His)
|
|
|
NM_015335.5(MED13L):c.942T>C (p.Ser314=)
|
|
|
NM_015335.5(MED13L):c.979C>T (p.Pro327Ser)
|
|
|
NM_015335.5(MED13L):c.987C>G (p.Thr329=)
|
|
|
NM_018055.5(NODAL):c.152C>T (p.Pro51Leu)
|
|
|
NM_018055.5(NODAL):c.222G>A (p.Thr74=)
|
|
|
NM_018055.5(NODAL):c.291G>T (p.Leu97=)
|
|
|
NM_018055.5(NODAL):c.406C>T (p.Leu136=)
|
|
|
NM_018055.5(NODAL):c.474T>A (p.Pro158=)
|
|
|
NM_018055.5(NODAL):c.661C>A (p.Arg221=)
|
rs144444359
|
|
NM_018055.5(NODAL):c.759G>A (p.Gln253=)
|
rs1554850001
|
|
NM_018055.5(NODAL):c.819C>G (p.Ala273=)
|
rs749265748
|
|
NM_018055.5(NODAL):c.870G>A (p.Pro290=)
|
|
|
NM_018055.5(NODAL):c.870G>T (p.Pro290=)
|
rs763525961
|
|
NM_018055.5(NODAL):c.891+19G>C
|
|
|
NM_018055.5(NODAL):c.93G>A (p.Thr31=)
|
|
|
NM_021005.4(NR2F2):c.1008C>T (p.Ser336=)
|
rs767004289
|
|
NM_021005.4(NR2F2):c.150C>T (p.Ser50=)
|
|
|
NM_021005.4(NR2F2):c.210G>A (p.Lys70=)
|
rs1899171814
|
|
NM_021005.4(NR2F2):c.237C>T (p.Cys79=)
|
|
|
NM_021005.4(NR2F2):c.276C>T (p.Gly92=)
|
rs1332151769
|
|
NM_021005.4(NR2F2):c.36G>A (p.Gln12=)
|
rs2141166624
|
|
NM_021005.4(NR2F2):c.414G>A (p.Lys138=)
|
rs1373249033
|
|
NM_021005.4(NR2F2):c.456C>T (p.Gly152=)
|
|
|
NM_021005.4(NR2F2):c.468G>T (p.Pro156=)
|
rs746596432
|
|
NM_021005.4(NR2F2):c.648C>A (p.Ala216=)
|
|
|
NM_021005.4(NR2F2):c.687C>T (p.Asn229=)
|
|
|
NM_021005.4(NR2F2):c.819C>T (p.Ala273=)
|
|
|
NM_021005.4(NR2F2):c.879G>A (p.Arg293=)
|
|
|
NM_021005.4(NR2F2):c.958C>T (p.Leu320=)
|
rs1596428579
|
|
NM_022114.4(PRDM16):c.1011C>T (p.Phe337=)
|
|
|
NM_022114.4(PRDM16):c.1023C>T (p.Asn341=)
|
|
|
NM_022114.4(PRDM16):c.1032+10G>A
|
|
|
NM_022114.4(PRDM16):c.1032+12G>C
|
|
|
NM_022114.4(PRDM16):c.1032+13G>A
|
|
|
NM_022114.4(PRDM16):c.1032+20C>T
|
|
|
NM_022114.4(PRDM16):c.1032+21_1032+66del
|
|
|
NM_022114.4(PRDM16):c.1033-11C>T
|
|
|
NM_022114.4(PRDM16):c.1033-14A>T
|
|
|
NM_022114.4(PRDM16):c.1033-17G>A
|
|
|
NM_022114.4(PRDM16):c.1033-18C>T
|
|
|
NM_022114.4(PRDM16):c.1033-5C>G
|
|
|
NM_022114.4(PRDM16):c.1033-8C>T
|
rs1049463147
|
|
NM_022114.4(PRDM16):c.1065C>T (p.His355=)
|
|
|
NM_022114.4(PRDM16):c.1074G>A (p.Ser358=)
|
rs767835445
|
|
NM_022114.4(PRDM16):c.1074G>T (p.Ser358=)
|
rs767835445
|
|
NM_022114.4(PRDM16):c.1086C>T (p.Gly362=)
|
|
|
NM_022114.4(PRDM16):c.1134C>T (p.Ser378=)
|
rs200169663
|
|
NM_022114.4(PRDM16):c.1200C>T (p.His400=)
|
rs1569727120
|
|
NM_022114.4(PRDM16):c.1233G>C (p.Arg411=)
|
rs2100662097
|
|
NM_022114.4(PRDM16):c.1239G>A (p.Lys413=)
|
|
|
NM_022114.4(PRDM16):c.1242G>C (p.Arg414=)
|
rs2100662106
|
|
NM_022114.4(PRDM16):c.1248C>T (p.His416=)
|
|
|
NM_022114.4(PRDM16):c.1272G>A (p.Lys424=)
|
|
|
NM_022114.4(PRDM16):c.1302T>C (p.Thr434=)
|
|
|
NM_022114.4(PRDM16):c.1326G>A (p.Arg442=)
|
rs766131529
|
|
NM_022114.4(PRDM16):c.1335C>T (p.Cys445=)
|
|
|
NM_022114.4(PRDM16):c.1338G>A (p.Glu446=)
|
|
|
NM_022114.4(PRDM16):c.1356G>A (p.Thr452=)
|
rs567761188
|
|
NM_022114.4(PRDM16):c.1362C>T (p.Gly454=)
|
|
|
NM_022114.4(PRDM16):c.1386C>G (p.Pro462=)
|
|
|
NM_022114.4(PRDM16):c.1392C>T (p.Thr464=)
|
rs2100662376
|
|
NM_022114.4(PRDM16):c.1422C>G (p.Pro474=)
|
|
|
NM_022114.4(PRDM16):c.1458C>T (p.Asn486=)
|
|
|
NM_022114.4(PRDM16):c.1476G>A (p.Arg492=)
|
|
|
NM_022114.4(PRDM16):c.1482C>T (p.His494=)
|
|
|
NM_022114.4(PRDM16):c.1491C>T (p.Ser497=)
|
|
|
NM_022114.4(PRDM16):c.1506G>C (p.Thr502=)
|
rs375543158
|
|
NM_022114.4(PRDM16):c.1530C>G (p.Leu510=)
|
rs1643690100
|
|
NM_022114.4(PRDM16):c.1566G>A (p.Leu522=)
|
|
|
NM_022114.4(PRDM16):c.1611C>T (p.Ser537=)
|
rs2100662881
|
|
NM_022114.4(PRDM16):c.1625C>A (p.Thr542Asn)
|
rs573253046
|
|
NM_022114.4(PRDM16):c.1638G>A (p.Lys546=)
|
rs1569729040
|
|
NM_022114.4(PRDM16):c.1677C>A (p.Val559=)
|
|
|
NM_022114.4(PRDM16):c.1683C>T (p.Ala561=)
|
rs771966209
|
|
NM_022114.4(PRDM16):c.1761T>C (p.Cys587=)
|
|
|
NM_022114.4(PRDM16):c.1797G>C (p.Ser599=)
|
|
|
NM_022114.4(PRDM16):c.1803C>T (p.Gly601=)
|
rs1643696853
|
|
NM_022114.4(PRDM16):c.1833G>A (p.Thr611=)
|
|
|
NM_022114.4(PRDM16):c.1836G>A (p.Gly612=)
|
rs2100663379
|
|
NM_022114.4(PRDM16):c.1857G>A (p.Thr619=)
|
|
|
NM_022114.4(PRDM16):c.1866C>T (p.Gly622=)
|
|
|
NM_022114.4(PRDM16):c.1881C>T (p.Ser627=)
|
|
|
NM_022114.4(PRDM16):c.192G>A (p.Glu64=)
|
|
|
NM_022114.4(PRDM16):c.1953C>T (p.Gly651=)
|
rs780589589
|
|
NM_022114.4(PRDM16):c.1968G>A (p.Pro656=)
|
|
|
NM_022114.4(PRDM16):c.1971G>T (p.Gly657=)
|
|
|
NM_022114.4(PRDM16):c.1983C>T (p.Ser661=)
|
rs764211215
|
|
NM_022114.4(PRDM16):c.198G>A (p.Ser66=)
|
|
|
NM_022114.4(PRDM16):c.1992G>A (p.Glu664=)
|
rs1222175268
|
|
NM_022114.4(PRDM16):c.2028G>A (p.Pro676=)
|
|
|
NM_022114.4(PRDM16):c.2035G>A (p.Asp679Asn)
|
rs772689095
|
|
NM_022114.4(PRDM16):c.2061C>T (p.Gly687=)
|
|
|
NM_022114.4(PRDM16):c.2064C>T (p.Ala688=)
|
|
|
NM_022114.4(PRDM16):c.2079C>T (p.Ile693=)
|
rs1569731370
|
|
NM_022114.4(PRDM16):c.2100C>G (p.Ala700=)
|
rs565237990
|
|
NM_022114.4(PRDM16):c.2148G>C (p.Leu716=)
|
rs886908974
|
|
NM_022114.4(PRDM16):c.2175C>T (p.Phe725=)
|
rs760788835
|
|
NM_022114.4(PRDM16):c.2196C>T (p.Asn732=)
|
rs765462018
|
|
NM_022114.4(PRDM16):c.219C>T (p.Tyr73=)
|
rs2100798029
|
|
NM_022114.4(PRDM16):c.2235C>T (p.Leu745=)
|
|
|
NM_022114.4(PRDM16):c.2247G>A (p.Leu749=)
|
rs1553176942
|
|
NM_022114.4(PRDM16):c.2248C>T (p.Leu750=)
|
|
|
NM_022114.4(PRDM16):c.2253C>G (p.Val751=)
|
|
|
NM_022114.4(PRDM16):c.2259C>G (p.Ala753=)
|
rs548246861
|
|
NM_022114.4(PRDM16):c.225T>G (p.Pro75=)
|
|
|
NM_022114.4(PRDM16):c.2280C>T (p.Asp760=)
|
rs568097564
|
|
NM_022114.4(PRDM16):c.2298C>T (p.Gly766=)
|
|
|
NM_022114.4(PRDM16):c.2331C>A (p.Thr777=)
|
rs1341380134
|
|
NM_022114.4(PRDM16):c.2361C>T (p.Pro787=)
|
|
|
NM_022114.4(PRDM16):c.237G>A (p.Pro79=)
|
rs143467979
|
|
NM_022114.4(PRDM16):c.237G>T (p.Pro79=)
|
rs143467979
|
|
NM_022114.4(PRDM16):c.2391C>A (p.Ser797=)
|
rs370931714
|
|
NM_022114.4(PRDM16):c.2413C>T (p.Leu805=)
|
rs2100664712
|
|
NM_022114.4(PRDM16):c.2415G>C (p.Leu805=)
|
|
|
NM_022114.4(PRDM16):c.246A>G (p.Ala82=)
|
rs765564758
|
|
NM_022114.4(PRDM16):c.2472G>A (p.Lys824=)
|
rs912467063
|
|
NM_022114.4(PRDM16):c.2535G>A (p.Ala845=)
|
rs1004240763
|
|
NM_022114.4(PRDM16):c.2535G>C (p.Ala845=)
|
rs1004240763
|
|
NM_022114.4(PRDM16):c.2604-16C>T
|
rs368705439
|
|
NM_022114.4(PRDM16):c.2604-20C>A
|
rs1219390021
|
|
NM_022114.4(PRDM16):c.2664G>C (p.Arg888=)
|
|
|
NM_022114.4(PRDM16):c.2667G>T (p.Pro889=)
|
rs774537766
|
|
NM_022114.4(PRDM16):c.2670C>T (p.Ser890=)
|
|
|
NM_022114.4(PRDM16):c.2692-19C>T
|
|
|
NM_022114.4(PRDM16):c.2692-9T>C
|
|
|
NM_022114.4(PRDM16):c.270C>A (p.Ser90=)
|
rs1569799111
|
|
NM_022114.4(PRDM16):c.2724G>A (p.Leu908=)
|
rs757917553
|
|
NM_022114.4(PRDM16):c.2764C>T (p.Leu922=)
|
rs576629075
|
|
NM_022114.4(PRDM16):c.2778C>G (p.Pro926=)
|
|
|
NM_022114.4(PRDM16):c.2815C>A (p.Leu939Ile)
|
rs150022595
|
|
NM_022114.4(PRDM16):c.2817C>T (p.Leu939=)
|
rs1638316744
|
|
NM_022114.4(PRDM16):c.2826C>T (p.Pro942=)
|
|
|
NM_022114.4(PRDM16):c.2861+11C>G
|
|
|
NM_022114.4(PRDM16):c.2862-10T>A
|
rs1569751849
|
|
NM_022114.4(PRDM16):c.2862-13C>T
|
|
|
NM_022114.4(PRDM16):c.2883C>T (p.Pro961=)
|
|
|
NM_022114.4(PRDM16):c.288G>A (p.Leu96=)
|
rs752047886
|
|
NM_022114.4(PRDM16):c.28C>T (p.Leu10=)
|
rs770141414
|
|
NM_022114.4(PRDM16):c.2922T>G (p.Thr974=)
|
|
|
NM_022114.4(PRDM16):c.2931G>A (p.Gln977=)
|
|
|
NM_022114.4(PRDM16):c.2939+11C>T
|
|
|
NM_022114.4(PRDM16):c.2939+12G>A
|
|
|
NM_022114.4(PRDM16):c.2939+14G>C
|
|
|
NM_022114.4(PRDM16):c.2940-12T>C
|
|
|
NM_022114.4(PRDM16):c.2940-13G>C
|
rs2100692247
|
|
NM_022114.4(PRDM16):c.2940-16C>A
|
rs374845861
|
|
NM_022114.4(PRDM16):c.2970C>T (p.Ile990=)
|
rs1638581994
|
|
NM_022114.4(PRDM16):c.2982C>T (p.Leu994=)
|
|
|
NM_022114.4(PRDM16):c.3027G>A (p.Lys1009=)
|
|
|
NM_022114.4(PRDM16):c.3063C>T (p.Thr1021=)
|
rs1638583619
|
|
NM_022114.4(PRDM16):c.3078C>T (p.His1026=)
|
|
|
NM_022114.4(PRDM16):c.3096C>T (p.His1032=)
|
|
|
NM_022114.4(PRDM16):c.3105A>G (p.Ala1035=)
|
rs2100692467
|
|
NM_022114.4(PRDM16):c.3109+15G>T
|
|
|
NM_022114.4(PRDM16):c.3110-12G>A
|
|
|
NM_022114.4(PRDM16):c.3110-19T>A
|
|
|
NM_022114.4(PRDM16):c.3110-7T>C
|
rs1553179293
|
|
NM_022114.4(PRDM16):c.3126G>A (p.Gly1042=)
|
|
|
NM_022114.4(PRDM16):c.3138C>T (p.Asn1046=)
|
rs2100693217
|
|
NM_022114.4(PRDM16):c.3141C>T (p.His1047=)
|
rs754311746
|
|
NM_022114.4(PRDM16):c.3150C>G (p.Thr1050=)
|
|
|
NM_022114.4(PRDM16):c.3222G>A (p.Ser1074=)
|
rs541306513
|
|
NM_022114.4(PRDM16):c.3240T>C (p.Ile1080=)
|
|
|
NM_022114.4(PRDM16):c.3284+15G>A
|
|
|
NM_022114.4(PRDM16):c.3284+17G>C
|
rs376268478
|
|
NM_022114.4(PRDM16):c.3285-15_3285-13del
|
|
|
NM_022114.4(PRDM16):c.3285-20C>A
|
|
|
NM_022114.4(PRDM16):c.3363G>A (p.Glu1121=)
|
rs749724757
|
|
NM_022114.4(PRDM16):c.3366CGA[3] (p.Asp1125dup)
|
rs758774731
|
|
NM_022114.4(PRDM16):c.3393G>A (p.Glu1131=)
|
rs2100702079
|
|
NM_022114.4(PRDM16):c.339C>T (p.Cys113=)
|
|
|
NM_022114.4(PRDM16):c.3414G>A (p.Ser1138=)
|
rs762994553
|
|
NM_022114.4(PRDM16):c.3426C>T (p.Thr1142=)
|
|
|
NM_022114.4(PRDM16):c.3435C>T (p.Pro1145=)
|
|
|
NM_022114.4(PRDM16):c.3441C>T (p.Pro1147=)
|
|
|
NM_022114.4(PRDM16):c.3471G>A (p.Glu1157=)
|
rs1638752992
|
|
NM_022114.4(PRDM16):c.3486C>T (p.Ala1162=)
|
|
|
NM_022114.4(PRDM16):c.3501G>A (p.Val1167=)
|
|
|
NM_022114.4(PRDM16):c.3521+13G>A
|
|
|
NM_022114.4(PRDM16):c.3522-20C>G
|
|
|
NM_022114.4(PRDM16):c.3522-5T>C
|
|
|
NM_022114.4(PRDM16):c.3534C>T (p.Asp1178=)
|
|
|
NM_022114.4(PRDM16):c.3696+16A>T
|
|
|
NM_022114.4(PRDM16):c.3696+7A>G
|
rs746946590
|
|
NM_022114.4(PRDM16):c.3697-17C>T
|
rs752429526
|
|
NM_022114.4(PRDM16):c.3697-5G>C
|
|
|
NM_022114.4(PRDM16):c.3699A>G (p.Ala1233=)
|
|
|
NM_022114.4(PRDM16):c.37+23_37+55del
|
|
|
NM_022114.4(PRDM16):c.3714G>A (p.Leu1238=)
|
rs1427967709
|
|
NM_022114.4(PRDM16):c.3789C>G (p.Ala1263=)
|
|
|
NM_022114.4(PRDM16):c.38-19G>A
|
|
|
NM_022114.4(PRDM16):c.38-20C>A
|
rs190568539
|
|
NM_022114.4(PRDM16):c.38-20C>T
|
rs190568539
|
|
NM_022114.4(PRDM16):c.387+10C>T
|
rs190880470
|
|
NM_022114.4(PRDM16):c.387+13G>A
|
|
|
NM_022114.4(PRDM16):c.387+7G>A
|
|
|
NM_022114.4(PRDM16):c.388-18C>T
|
|
|
NM_022114.4(PRDM16):c.388-20C>T
|
rs1287323909
|
|
NM_022114.4(PRDM16):c.388-8T>C
|
rs2100913261
|
|
NM_022114.4(PRDM16):c.39T>C (p.Ser13=)
|
rs1373869540
|
|
NM_022114.4(PRDM16):c.414G>A (p.Ser138=)
|
|
|
NM_022114.4(PRDM16):c.438+12C>T
|
|
|
NM_022114.4(PRDM16):c.438+13G>A
|
rs749399829
|
|
NM_022114.4(PRDM16):c.438+16C>T
|
|
|
NM_022114.4(PRDM16):c.438+20G>A
|
|
|
NM_022114.4(PRDM16):c.438+7G>T
|
rs1198596075
|
|
NM_022114.4(PRDM16):c.439-4G>T
|
rs1060504136
|
|
NM_022114.4(PRDM16):c.48C>T (p.Asp16=)
|
rs755458264
|
|
NM_022114.4(PRDM16):c.525G>A (p.Ala175=)
|
rs761677255
|
|
NM_022114.4(PRDM16):c.525G>C (p.Ala175=)
|
rs761677255
|
|
NM_022114.4(PRDM16):c.573+10G>A
|
|
|
NM_022114.4(PRDM16):c.573+11G>A
|
|
|
NM_022114.4(PRDM16):c.573+12C>G
|
|
|
NM_022114.4(PRDM16):c.574-20C>G
|
|
|
NM_022114.4(PRDM16):c.574-20_574-17del
|
rs565661633
|
|
NM_022114.4(PRDM16):c.639C>T (p.Gly213=)
|
|
|
NM_022114.4(PRDM16):c.648C>T (p.Pro216=)
|
|
|
NM_022114.4(PRDM16):c.663G>A (p.Pro221=)
|
rs780898226
|
|
NM_022114.4(PRDM16):c.663G>T (p.Pro221=)
|
rs780898226
|
|
NM_022114.4(PRDM16):c.676+16C>A
|
|
|
NM_022114.4(PRDM16):c.677-17C>T
|
|
|
NM_022114.4(PRDM16):c.677-9C>G
|
|
|
NM_022114.4(PRDM16):c.677-9C>T
|
rs755951322
|
|
NM_022114.4(PRDM16):c.699C>T (p.Asp233=)
|
|
|
NM_022114.4(PRDM16):c.708C>T (p.Asp236=)
|
|
|
NM_022114.4(PRDM16):c.72C>T (p.Pro24=)
|
|
|
NM_022114.4(PRDM16):c.753C>T (p.Tyr251=)
|
|
|
NM_022114.4(PRDM16):c.771G>A (p.Gly257=)
|
|
|
NM_022114.4(PRDM16):c.810C>G (p.Pro270=)
|
rs753567065
|
|
NM_022114.4(PRDM16):c.816C>T (p.Gly272=)
|
rs2100642536
|
|
NM_022114.4(PRDM16):c.876C>T (p.Asn292=)
|
rs1553174363
|
|
NM_022114.4(PRDM16):c.884+15T>C
|
rs2100642752
|
|
NM_022114.4(PRDM16):c.884+16_884+17del
|
|
|
NM_022114.4(PRDM16):c.884+33_884+94del
|
rs1557654935
|
|
NM_022114.4(PRDM16):c.884+33_884+94dup
|
|
|
NM_022114.4(PRDM16):c.885-14C>T
|
|
|
NM_022114.4(PRDM16):c.885-15T>C
|
rs2100646015
|
|
NM_022114.4(PRDM16):c.885-8C>T
|
|
|
NM_022114.4(PRDM16):c.912G>C (p.Thr304=)
|
|
|
NM_022114.4(PRDM16):c.921C>T (p.Arg307=)
|
rs767412035
|
|
NM_022114.4(PRDM16):c.930A>G (p.Lys310=)
|
|
|
NM_022114.4(PRDM16):c.99C>T (p.Ser33=)
|
|
|
NM_033337.3(CAV3):c.114+16C>T
|
|
|
NM_033337.3(CAV3):c.114+8C>G
|
rs987275270
|
|
NM_033337.3(CAV3):c.115-17C>T
|
rs2124988175
|
|
NM_033337.3(CAV3):c.115-4G>C
|
|
|
NM_033337.3(CAV3):c.115-6C>T
|
rs1575477387
|
|
NM_033337.3(CAV3):c.115-8C>T
|
rs1473004678
|
|
NM_033337.3(CAV3):c.132G>A (p.Val44=)
|
rs372754279
|
|
NM_033337.3(CAV3):c.135C>A (p.Ile45=)
|
|
|
NM_033337.3(CAV3):c.168C>A (p.Gly56=)
|
rs116840774
|
|
NM_033337.3(CAV3):c.177G>A (p.Lys59=)
|
rs1708131659
|
|
NM_033337.3(CAV3):c.183C>T (p.Ser61=)
|
rs116840796
|
|
NM_033337.3(CAV3):c.192C>A (p.Thr64=)
|
rs1060504548
|
|
NM_033337.3(CAV3):c.201C>T (p.Val67=)
|
rs201593267
|
|
NM_033337.3(CAV3):c.226T>C (p.Leu76=)
|
|
|
NM_033337.3(CAV3):c.231C>G (p.Ser77=)
|
rs1256028341
|
|
NM_033337.3(CAV3):c.231C>T (p.Ser77=)
|
rs1256028341
|
|
NM_033337.3(CAV3):c.246C>G (p.Val82=)
|
|
|
NM_033337.3(CAV3):c.279C>T (p.Ala93=)
|
rs2124988568
|
|
NM_033337.3(CAV3):c.27C>G (p.Leu9=)
|
rs1974763
|
|
NM_033337.3(CAV3):c.297C>T (p.His99=)
|
rs377495315
|
|
NM_033337.3(CAV3):c.312G>A (p.Val104=)
|
rs794727305
|
|
NM_033337.3(CAV3):c.339G>A (p.Glu113=)
|
rs2124988662
|
|
NM_033337.3(CAV3):c.342C>T (p.Ile114=)
|
|
|
NM_033337.3(CAV3):c.357C>T (p.His119=)
|
|
|
NM_033337.3(CAV3):c.372C>T (p.Cys124=)
|
rs894963662
|
|
NM_033337.3(CAV3):c.396C>G (p.Leu132=)
|
|
|
NM_033337.3(CAV3):c.396C>T (p.Leu132=)
|
|
|
NM_033337.3(CAV3):c.399C>T (p.Phe133=)
|
rs769859957
|
|
NM_033337.3(CAV3):c.402G>A (p.Ala134=)
|
rs559206877
|
|
NM_033337.3(CAV3):c.402G>T (p.Ala134=)
|
|
|
NM_033337.3(CAV3):c.406C>T (p.Leu136=)
|
rs2124988765
|
|
NM_033337.3(CAV3):c.408G>A (p.Leu136=)
|
|
|
NM_033337.3(CAV3):c.423C>T (p.Ser141=)
|
rs104893713
|
|
NM_033337.3(CAV3):c.429C>A (p.Ile143=)
|
rs750004840
|
|
NM_033337.3(CAV3):c.455A>G (p.Ter152=)
|
rs748075760
|
|
NM_033337.3(CAV3):c.54C>T (p.His18=)
|
rs775054657
|
|
NM_033337.3(CAV3):c.63G>A (p.Glu21=)
|
rs1417709772
|
|
NM_033337.3(CAV3):c.9A>G (p.Ala3=)
|
rs2124977096
|
|
NM_145020.5(CFAP53):c.111A>T (p.Leu37=)
|
|
|
NM_145020.5(CFAP53):c.117A>G (p.Arg39=)
|
|
|
NM_145020.5(CFAP53):c.1213+17C>A
|
|
|
NM_145020.5(CFAP53):c.1316+20A>G
|
|
|
NM_145020.5(CFAP53):c.1513C>T (p.Arg505Cys)
|
rs192619553
|
|
NM_145020.5(CFAP53):c.1521A>G (p.Ala507=)
|
|
|
NM_145020.5(CFAP53):c.300-4T>A
|
rs2144435745
|
|
NM_145020.5(CFAP53):c.474-6T>C
|
|
|
NM_145020.5(CFAP53):c.843G>A (p.Lys281=)
|
|
|
NM_145020.5(CFAP53):c.915C>T (p.Asp305=)
|
|
|
NM_145020.5(CFAP53):c.957A>G (p.Gln319=)
|
|
|
NM_145020.5(CFAP53):c.993A>G (p.Lys331=)
|
|
|
NM_145054.5(CFAP52):c.1025+19C>A
|
|
|
NM_145054.5(CFAP52):c.1419C>T (p.Asn473=)
|
|
|
NM_172201.2(KCNE2):c.*11A>C
|
rs558860396
|
|
NM_172201.2(KCNE2):c.141C>T (p.Tyr47=)
|
|
|
NM_172201.2(KCNE2):c.183T>G (p.Ser61=)
|
|
|
NM_172201.2(KCNE2):c.195G>T (p.Val65=)
|
|
|
NM_172201.2(KCNE2):c.301T>C (p.Leu101=)
|
|
|
NM_172201.2(KCNE2):c.30G>A (p.Thr10=)
|
rs751014874
|
|
NM_172201.2(KCNE2):c.330C>A (p.Ile110=)
|
|
|
NM_172201.2(KCNE2):c.339C>T (p.Asn113=)
|
rs756380802
|
|
NM_172201.2(KCNE2):c.354G>C (p.Gly118=)
|
|
|
NM_172201.2(KCNE2):c.369C>T (p.Pro123=)
|
rs2123424404
|
|
NM_172201.2(KCNE2):c.42C>A (p.Val14=)
|
rs2123423554
|
|
NM_172201.2(KCNE2):c.87C>T (p.Asn29=)
|
rs1427987437
|
|
NM_174934.4(SCN4B):c.112G>C (p.Ala38Pro)
|
rs777894412
|
|
NM_174934.4(SCN4B):c.156C>G (p.Pro52=)
|
rs1263610504
|
|
NM_174934.4(SCN4B):c.235-20C>T
|
|
|
NM_174934.4(SCN4B):c.270C>T (p.Asp90=)
|
|
|
NM_174934.4(SCN4B):c.291C>T (p.Asp97=)
|
|
|
NM_174934.4(SCN4B):c.294T>C (p.Asp98=)
|
rs2135504024
|
|
NM_174934.4(SCN4B):c.33G>A (p.Pro11=)
|
rs755861941
|
|
NM_174934.4(SCN4B):c.345C>T (p.Ser115=)
|
|
|
NM_174934.4(SCN4B):c.396T>C (p.His132=)
|
|
|
NM_174934.4(SCN4B):c.411G>A (p.Lys137=)
|
|
|
NM_174934.4(SCN4B):c.464-14C>T
|
|
|
NM_174934.4(SCN4B):c.501G>A (p.Leu167=)
|
|
|
NM_174934.4(SCN4B):c.555A>G (p.Lys185=)
|
rs2135501534
|
|
NM_174934.4(SCN4B):c.570C>A (p.Ile190=)
|
|
|
NM_174934.4(SCN4B):c.594-15T>C
|
|
|
NM_174934.4(SCN4B):c.594-17TC[2]
|
rs745759292
|
|
NM_174934.4(SCN4B):c.594-7T>A
|
|
|
NM_174934.4(SCN4B):c.597G>A (p.Lys199=)
|
rs372596382
|
|
NM_174934.4(SCN4B):c.61+14A>G
|
|
|
NM_174934.4(SCN4B):c.61+15G>C
|
|
|
NM_174934.4(SCN4B):c.62-15G>C
|
|
|
NM_174934.4(SCN4B):c.62-5C>T
|
rs2135505353
|
|
NM_174934.4(SCN4B):c.62-7T>C
|
|
|
NM_174934.4(SCN4B):c.75C>T (p.Leu25=)
|
rs1277058252
|
|