NM_000363.5(TNNI3):c.373-10=
|
rs7252610
|
0.99999
|
NM_000117.3(EMD):c.144C>T (p.Leu48=)
|
rs200537612
|
0.00315
|
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile)
|
rs148915045
|
0.00284
|
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
|
rs45550635
|
0.00271
|
NM_002471.4(MYH6):c.1449C>T (p.Asn483=)
|
rs145447555
|
0.00238
|
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser)
|
rs186681106
|
0.00131
|
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile)
|
rs578191491
|
0.00131
|
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro)
|
rs61735272
|
0.00126
|
NM_001943.5(DSG2):c.221A>G (p.His74Arg)
|
rs201855245
|
0.00104
|
NM_020433.5(JPH2):c.565G>A (p.Ala189Thr)
|
rs730880254
|
0.00099
|
NM_002471.4(MYH6):c.3303G>A (p.Val1101=)
|
rs143825034
|
0.00095
|
NM_003476.4(CSRP3):c.-74A>C
|
rs45498797
|
0.00092
|
NM_003673.4(TCAP):c.353C>T (p.Ala118Val)
|
rs143233087
|
0.00092
|
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val)
|
rs72648989
|
0.00083
|
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro)
|
rs56399205
|
0.00071
|
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr)
|
rs72648263
|
0.00070
|
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His)
|
rs72648206
|
0.00069
|
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys)
|
rs146868519
|
0.00067
|
NM_033118.4(MYLK2):c.524C>A (p.Thr175Asn)
|
rs202084078
|
0.00066
|
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu)
|
rs141033098
|
0.00064
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser)
|
rs140852019
|
0.00060
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_001927.4(DES):c.656C>T (p.Thr219Ile)
|
rs144901249
|
0.00058
|
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp)
|
rs61746358
|
0.00056
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)
|
rs146664754
|
0.00055
|
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln)
|
rs372174546
|
0.00054
|
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr)
|
rs45539535
|
0.00054
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu)
|
rs369440319
|
0.00049
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly)
|
rs200525962
|
0.00048
|
NM_001105206.3(LAMA4):c.*1C>T
|
rs148811960
|
0.00048
|
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His)
|
rs201512527
|
0.00048
|
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser)
|
rs371513491
|
0.00046
|
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys)
|
rs186624523
|
0.00046
|
NM_000335.5(SCN5A):c.2437-5C>A
|
rs72549411
|
0.00045
|
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met)
|
rs186906598
|
0.00045
|
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly)
|
rs200166942
|
0.00045
|
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys)
|
rs142410803
|
0.00045
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_033118.4(MYLK2):c.834T>A (p.Asn278Lys)
|
rs41293104
|
0.00044
|
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys)
|
rs199601548
|
0.00041
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe)
|
rs183262122
|
0.00040
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln)
|
rs200161147
|
0.00039
|
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys)
|
rs199474808
|
0.00038
|
NM_144573.4(NEXN):c.512T>C (p.Ile171Thr)
|
rs372065024
|
0.00035
|
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)
|
rs141122361
|
0.00034
|
NM_001267550.2(TTN):c.28187C>T (p.Pro9396Leu)
|
rs373065549
|
0.00034
|
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly)
|
rs199512049
|
0.00034
|
NM_144573.4(NEXN):c.613G>A (p.Glu205Lys)
|
rs201447781
|
0.00034
|
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser)
|
rs369941201
|
0.00032
|
NM_001943.5(DSG2):c.2192A>C (p.Gln731Pro)
|
rs202063433
|
0.00032
|
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp)
|
rs150036969
|
0.00032
|
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu)
|
rs200415625
|
0.00031
|
NM_004415.4(DSP):c.273+5G>A
|
rs200473206
|
0.00031
|
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys)
|
rs140596256
|
0.00030
|
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala)
|
rs143139258
|
0.00029
|
NM_001035.3(RYR2):c.649A>G (p.Ile217Val)
|
rs200642525
|
0.00029
|
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile)
|
rs376768790
|
0.00029
|
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg)
|
rs375204371
|
0.00029
|
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg)
|
rs199738750
|
0.00029
|
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys)
|
rs571985775
|
0.00028
|
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser)
|
rs727503392
|
0.00028
|
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)
|
rs200248944
|
0.00027
|
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln)
|
rs397515922
|
0.00026
|
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala)
|
rs139633545
|
0.00026
|
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr)
|
rs45577134
|
0.00026
|
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile)
|
rs376504548
|
0.00025
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
NM_001035.3(RYR2):c.2574G>A (p.Thr858=)
|
rs367992907
|
0.00025
|
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met)
|
rs139515659
|
0.00025
|
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu)
|
rs200943714
|
0.00025
|
NM_014000.3(VCL):c.1294C>G (p.Leu432Val)
|
rs144146254
|
0.00025
|
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val)
|
rs201845641
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)
|
rs200625851
|
0.00024
|
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro)
|
rs377225516
|
0.00024
|
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn)
|
rs201307101
|
0.00024
|
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys)
|
rs551099887
|
0.00024
|
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met)
|
rs193922635
|
0.00024
|
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser)
|
rs28730713
|
0.00024
|
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln)
|
rs188996850
|
0.00024
|
NM_024422.6(DSC2):c.857G>T (p.Gly286Val)
|
rs199682735
|
0.00024
|
NM_001035.3(RYR2):c.8060G>A (p.Ser2687Asn)
|
rs202020477
|
0.00023
|
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg)
|
rs147109895
|
0.00023
|
NM_001105206.3(LAMA4):c.4645A>T (p.Asn1549Tyr)
|
rs141261442
|
0.00022
|
NM_003803.4(MYOM1):c.2848A>G (p.Met950Val)
|
rs184774935
|
0.00022
|
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr)
|
rs199918720
|
0.00022
|
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)
|
rs397515985
|
0.00021
|
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg)
|
rs200121281
|
0.00021
|
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys)
|
rs145039979
|
0.00021
|
NM_002471.4(MYH6):c.3383G>A (p.Arg1128His)
|
rs376002621
|
0.00021
|
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys)
|
rs150339369
|
0.00021
|
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr)
|
rs762561997
|
0.00021
|
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met)
|
rs148056866
|
0.00021
|
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn)
|
rs376736293
|
0.00020
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys)
|
rs202040519
|
0.00020
|
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe)
|
rs201029552
|
0.00020
|
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His)
|
rs372628478
|
0.00019
|
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe)
|
rs375776406
|
0.00019
|
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)
|
rs373946195
|
0.00019
|
NM_000371.4(TTR):c.190T>C (p.Phe64Leu)
|
rs138065384
|
0.00019
|
NM_000371.4(TTR):c.368G>A (p.Arg123His)
|
rs148538950
|
0.00019
|
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His)
|
rs201312753
|
0.00019
|
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg)
|
rs397516625
|
0.00019
|
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met)
|
rs142534126
|
0.00019
|
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro)
|
rs375177753
|
0.00019
|
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile)
|
rs377682563
|
0.00019
|
NM_001458.5(FLNC):c.4127+9C>T
|
rs368729011
|
0.00019
|
NM_001927.4(DES):c.635G>A (p.Arg212Gln)
|
rs144261171
|
0.00019
|
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser)
|
rs147628503
|
0.00019
|
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe)
|
rs764692193
|
0.00019
|
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys)
|
rs370093129
|
0.00019
|
NM_004415.4(DSP):c.961G>C (p.Val321Leu)
|
rs143994626
|
0.00019
|
NM_014000.3(VCL):c.2969C>T (p.Ala990Val)
|
rs150595117
|
0.00019
|
NM_014000.3(VCL):c.590C>T (p.Thr197Ile)
|
rs189242810
|
0.00019
|
NM_000117.3(EMD):c.272A>G (p.Asn91Ser)
|
rs137977232
|
0.00018
|
NM_001035.3(RYR2):c.11116G>A (p.Asp3706Asn)
|
rs942040362
|
0.00018
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
NM_001267550.2(TTN):c.30511+3G>A
|
rs563582627
|
0.00018
|
NM_001267550.2(TTN):c.32953C>T (p.Arg10985Trp)
|
rs201991864
|
0.00018
|
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=)
|
rs775954427
|
0.00018
|
NM_002230.4(JUP):c.1582G>A (p.Val528Ile)
|
rs368271628
|
0.00018
|
NM_000169.3(GLA):c.123C>T (p.Thr41=)
|
rs137902198
|
0.00017
|
NM_000256.3(MYBPC3):c.3415G>A (p.Val1139Ile)
|
rs373519667
|
0.00017
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
NM_000371.4(TTR):c.14G>A (p.Arg5His)
|
rs138657343
|
0.00017
|
NM_001005242.3(PKP2):c.928G>A (p.Val310Met)
|
rs768396351
|
0.00017
|
NM_001267550.2(TTN):c.111G>C (p.Val37=)
|
rs373923523
|
0.00017
|
NM_001267550.2(TTN):c.76402G>T (p.Val25468Leu)
|
rs200308639
|
0.00017
|
NM_001267550.2(TTN):c.77848C>T (p.Leu25950Phe)
|
rs376814602
|
0.00017
|
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn)
|
rs200697681
|
0.00017
|
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln)
|
rs141801816
|
0.00017
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
NM_000256.3(MYBPC3):c.2210C>T (p.Thr737Met)
|
rs199893357
|
0.00016
|
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln)
|
rs200476861
|
0.00016
|
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met)
|
rs143038626
|
0.00016
|
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys)
|
rs199583774
|
0.00016
|
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr)
|
rs139215336
|
0.00016
|
NM_001005242.3(PKP2):c.336+17T>G
|
rs185681814
|
0.00016
|
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp)
|
rs547005691
|
0.00016
|
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp)
|
rs200420897
|
0.00016
|
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys)
|
rs372048968
|
0.00016
|
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu)
|
rs72629783
|
0.00016
|
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln)
|
rs117551279
|
0.00016
|
NM_001267550.2(TTN):c.45979C>T (p.Arg15327Cys)
|
rs367774903
|
0.00016
|
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His)
|
rs370135374
|
0.00016
|
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg)
|
rs375198596
|
0.00016
|
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp)
|
rs200022152
|
0.00016
|
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln)
|
rs200141081
|
0.00016
|
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg)
|
rs200052398
|
0.00016
|
NM_001330.5(CTF1):c.*5C>A
|
rs397516644
|
0.00016
|
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp)
|
rs763039506
|
0.00016
|
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg)
|
rs201564919
|
0.00016
|
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser)
|
rs121913010
|
0.00016
|
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr)
|
rs397516775
|
0.00016
|
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg)
|
rs200421954
|
0.00016
|
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln)
|
rs146642551
|
0.00016
|
NM_004415.4(DSP):c.8482G>A (p.Gly2828Ser)
|
rs369682599
|
0.00016
|
NM_004415.4(DSP):c.943C>T (p.Arg315Cys)
|
rs200476515
|
0.00016
|
NM_024422.6(DSC2):c.1766T>C (p.Met589Thr)
|
rs201856473
|
0.00016
|
NM_024422.6(DSC2):c.2471C>T (p.Ser824Leu)
|
rs143413607
|
0.00016
|
NM_000256.3(MYBPC3):c.1226+6T>C
|
rs397515892
|
0.00015
|
NM_000256.3(MYBPC3):c.1633C>A (p.Leu545Met)
|
rs377163678
|
0.00015
|
NM_001005242.3(PKP2):c.805G>A (p.Gly269Arg)
|
rs757285245
|
0.00015
|
NM_001035.3(RYR2):c.6022+5G>A
|
rs376389213
|
0.00015
|
NM_001267550.2(TTN):c.88645_88647del (p.Glu29549del)
|
rs778364983
|
0.00015
|
NM_001267550.2(TTN):c.97859C>T (p.Ala32620Val)
|
rs397517772
|
0.00015
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser)
|
rs199707920
|
0.00015
|
NM_001458.5(FLNC):c.970-4A>G
|
rs532143625
|
0.00015
|
NM_001943.5(DSG2):c.2305G>A (p.Glu769Lys)
|
rs371146201
|
0.00015
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys)
|
rs61094188
|
0.00015
|
NM_000169.3(GLA):c.-8C>G
|
rs371291716
|
0.00014
|
NM_000257.4(MYH7):c.4170-8C>A
|
rs199632504
|
0.00014
|
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr)
|
rs115622575
|
0.00014
|
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His)
|
rs79457258
|
0.00014
|
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg)
|
rs200450676
|
0.00014
|
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser)
|
rs200070226
|
0.00014
|
NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln)
|
rs559773178
|
0.00014
|
NM_001103.4(ACTN2):c.1930G>A (p.Ala644Thr)
|
rs146164600
|
0.00014
|
NM_001103.4(ACTN2):c.2367+5G>A
|
rs200469353
|
0.00014
|
NM_001105206.3(LAMA4):c.4493G>A (p.Arg1498His)
|
rs147556641
|
0.00014
|
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala)
|
rs376634193
|
0.00014
|
NM_001267550.2(TTN):c.56942C>T (p.Ala18981Val)
|
rs397517627
|
0.00014
|
NM_001267550.2(TTN):c.62425G>A (p.Ala20809Thr)
|
rs532844402
|
0.00014
|
NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg)
|
rs537071956
|
0.00014
|
NM_001267550.2(TTN):c.87111G>A (p.Glu29037=)
|
rs374902148
|
0.00014
|
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser)
|
rs141708467
|
0.00014
|
NM_001943.5(DSG2):c.3353C>T (p.Ser1118Phe)
|
rs368703304
|
0.00014
|
NM_001943.5(DSG2):c.430G>A (p.Glu144Lys)
|
rs199842209
|
0.00014
|
NM_002471.4(MYH6):c.1753G>A (p.Gly585Ser)
|
rs150415679
|
0.00014
|
NM_002471.4(MYH6):c.2611C>T (p.Arg871Cys)
|
rs376682837
|
0.00014
|
NM_004415.4(DSP):c.242G>A (p.Cys81Tyr)
|
rs140965835
|
0.00014
|
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln)
|
rs138907450
|
0.00014
|
NM_004415.4(DSP):c.521G>T (p.Cys174Phe)
|
rs377507763
|
0.00014
|
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)
|
rs201930322
|
0.00014
|
NM_005159.5(ACTC1):c.130-9T>C
|
rs147406641
|
0.00014
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
NM_001005242.3(PKP2):c.1379-2018G>A
|
rs369518480
|
0.00013
|
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=)
|
rs397516524
|
0.00013
|
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val)
|
rs137893207
|
0.00013
|
NM_001267550.2(TTN):c.10115-4G>A
|
rs367648529
|
0.00013
|
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser)
|
rs199837769
|
0.00013
|
NM_001267550.2(TTN):c.62534C>G (p.Thr20845Arg)
|
rs727505316
|
0.00013
|
NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln)
|
rs141142920
|
0.00013
|
NM_001943.5(DSG2):c.148G>A (p.Ala50Thr)
|
rs1267795586
|
0.00013
|
NM_001943.5(DSG2):c.2744G>C (p.Arg915Thr)
|
rs375358300
|
0.00013
|
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp)
|
rs202120238
|
0.00013
|
NM_004415.4(DSP):c.251G>A (p.Arg84Gln)
|
rs373736975
|
0.00013
|
NM_004415.4(DSP):c.2552T>A (p.Leu851Gln)
|
rs111368396
|
0.00013
|
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His)
|
rs141508330
|
0.00013
|
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)
|
rs367910936
|
0.00013
|
NM_024422.6(DSC2):c.2298G>C (p.Gln766His)
|
rs139558481
|
0.00013
|
NM_024422.6(DSC2):c.547C>T (p.Arg183Trp)
|
rs368082152
|
0.00013
|
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala)
|
rs373201722
|
0.00013
|
NM_001005242.3(PKP2):c.682G>A (p.Asp228Asn)
|
rs143954425
|
0.00012
|
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser)
|
rs777365708
|
0.00012
|
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser)
|
rs375209098
|
0.00012
|
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg)
|
rs184713215
|
0.00012
|
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys)
|
rs2303830
|
0.00012
|
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala)
|
rs727503600
|
0.00012
|
NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu)
|
rs750217838
|
0.00012
|
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn)
|
rs375676529
|
0.00012
|
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln)
|
rs370890454
|
0.00012
|
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser)
|
rs368443217
|
0.00012
|
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys)
|
rs775591945
|
0.00012
|
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys)
|
rs202049575
|
0.00012
|
NM_000256.3(MYBPC3):c.1445C>T (p.Ala482Val)
|
rs370285346
|
0.00011
|
NM_000256.3(MYBPC3):c.2011G>A (p.Val671Ile)
|
rs876657869
|
0.00011
|
NM_000256.3(MYBPC3):c.2176C>T (p.Arg726Cys)
|
rs752200396
|
0.00011
|
NM_000256.3(MYBPC3):c.3323A>C (p.Lys1108Thr)
|
rs397516015
|
0.00011
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
NM_000256.3(MYBPC3):c.598A>G (p.Ser200Gly)
|
rs370554185
|
0.00011
|
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr)
|
rs199552354
|
0.00011
|
NM_000257.4(MYH7):c.3982G>A (p.Ala1328Thr)
|
rs372727092
|
0.00011
|
NM_000257.4(MYH7):c.5071G>A (p.Val1691Met)
|
rs45464193
|
0.00011
|
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp)
|
rs370219248
|
0.00011
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile)
|
rs368633311
|
0.00011
|
NM_001035.3(RYR2):c.10700G>A (p.Arg3567His)
|
rs577371071
|
0.00011
|
NM_001035.3(RYR2):c.4096A>G (p.Thr1366Ala)
|
rs369982130
|
0.00011
|
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met)
|
rs371147744
|
0.00011
|
NM_001105206.3(LAMA4):c.2719G>A (p.Val907Ile)
|
rs138030555
|
0.00011
|
NM_001105206.3(LAMA4):c.3283-3C>G
|
rs374159760
|
0.00011
|
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln)
|
rs143785916
|
0.00011
|
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr)
|
rs397516622
|
0.00011
|
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg)
|
rs200716018
|
0.00011
|
NM_001267550.2(TTN):c.19715-4A>G
|
rs375009631
|
0.00011
|
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp)
|
rs199834143
|
0.00011
|
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser)
|
rs773035917
|
0.00011
|
NM_001267550.2(TTN):c.55745C>T (p.Pro18582Leu)
|
rs201194435
|
0.00011
|
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His)
|
rs572453785
|
0.00011
|
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile)
|
rs377334665
|
0.00011
|
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys)
|
rs368932767
|
0.00011
|
NM_001267550.2(TTN):c.95558G>A (p.Arg31853His)
|
rs754151944
|
0.00011
|
NM_001927.4(DES):c.407T>A (p.Leu136His)
|
rs397516695
|
0.00011
|
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln)
|
rs766933370
|
0.00011
|
NM_007078.3(LDB3):c.794G>A (p.Arg265His)
|
rs45458895
|
0.00011
|
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_170707.4(LMNA):c.1978A>G (p.Asn660Asp)
|
rs374926367
|
0.00011
|
NM_000256.3(MYBPC3):c.50G>A (p.Arg17Gln)
|
rs374630007
|
0.00010
|
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys)
|
rs193922385
|
0.00010
|
NM_000257.4(MYH7):c.5786C>T (p.Thr1929Met)
|
rs730880918
|
0.00010
|
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)
|
rs372731424
|
0.00010
|
NM_000432.4(MYL2):c.274+9G>A
|
rs371405579
|
0.00010
|
NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln)
|
rs376908332
|
0.00010
|
NM_001035.3(RYR2):c.2357G>A (p.Gly786Asp)
|
rs182778119
|
0.00010
|
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly)
|
rs200574919
|
0.00010
|
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)
|
rs193922626
|
0.00010
|
NM_001035.3(RYR2):c.8590+4A>G
|
rs778964264
|
0.00010
|
NM_001035.3(RYR2):c.9067+10C>T
|
rs372631657
|
0.00010
|
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr)
|
rs375482798
|
0.00010
|
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu)
|
rs139489232
|
0.00010
|
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp)
|
rs151119304
|
0.00010
|
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val)
|
rs397516608
|
0.00010
|
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys)
|
rs371552518
|
0.00010
|
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe)
|
rs370109572
|
0.00010
|
NM_001267550.2(TTN):c.5577G>T (p.Arg1859Ser)
|
rs551538420
|
0.00010
|
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His)
|
rs148920986
|
0.00010
|
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile)
|
rs200709344
|
0.00010
|
NM_001267550.2(TTN):c.91732G>A (p.Val30578Ile)
|
rs727504672
|
0.00010
|
NM_003280.3(TNNC1):c.210C>T (p.Gly70=)
|
rs141505676
|
0.00010
|
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)
|
rs267607124
|
0.00010
|
NM_004415.4(DSP):c.3146C>T (p.Ser1049Leu)
|
rs751361395
|
0.00010
|
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile)
|
rs151115778
|
0.00010
|
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp)
|
rs144641271
|
0.00010
|
NM_004415.4(DSP):c.6307A>G (p.Lys2103Glu)
|
rs149513743
|
0.00010
|
NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln)
|
rs373979810
|
0.00010
|
NM_014000.3(VCL):c.829C>A (p.Leu277Met)
|
rs71579353
|
0.00010
|
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)
|
rs397517270
|
0.00010
|
NM_024422.6(DSC2):c.1721G>A (p.Ser574Asn)
|
rs150318400
|
0.00010
|
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr)
|
rs756304120
|
0.00010
|
NM_170707.4(LMNA):c.1202G>A (p.Arg401His)
|
rs141490569
|
0.00010
|
NM_000256.3(MYBPC3):c.3384G>C (p.Glu1128Asp)
|
rs375116558
|
0.00009
|
NM_000256.3(MYBPC3):c.3412C>T (p.Arg1138Cys)
|
rs377171707
|
0.00009
|
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn)
|
rs769167548
|
0.00009
|
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val)
|
rs121913644
|
0.00009
|
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys)
|
rs145677314
|
0.00009
|
NM_000257.4(MYH7):c.4423C>T (p.Arg1475Cys)
|
rs139646545
|
0.00009
|
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr)
|
rs727504355
|
0.00009
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
0.00009
|
NM_000257.4(MYH7):c.5559+5G>A
|
rs371177871
|
0.00009
|
NM_000335.5(SCN5A):c.1598G>A (p.Arg533His)
|
rs146848219
|
0.00009
|
NM_000335.5(SCN5A):c.4783T>A (p.Phe1595Ile)
|
rs199473278
|
0.00009
|
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp)
|
rs45465995
|
0.00009
|
NM_000432.4(MYL2):c.359G>A (p.Arg120Gln)
|
rs192057022
|
0.00009
|
NM_000432.4(MYL2):c.374C>T (p.Thr125Met)
|
rs375667565
|
0.00009
|
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn)
|
rs200947767
|
0.00009
|
NM_001018005.2(TPM1):c.829G>A (p.Ala277Thr)
|
rs149659674
|
0.00009
|
NM_001035.3(RYR2):c.10680T>A (p.His3560Gln)
|
rs727503404
|
0.00009
|
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser)
|
rs373665895
|
0.00009
|
NM_001035.3(RYR2):c.4273A>G (p.Thr1425Ala)
|
rs776046135
|
0.00009
|
NM_001035.3(RYR2):c.463+9C>T
|
rs559545973
|
0.00009
|
NM_001035.3(RYR2):c.5600A>C (p.Glu1867Ala)
|
rs539021736
|
0.00009
|
NM_001035.3(RYR2):c.5756G>A (p.Arg1919Gln)
|
rs199893812
|
0.00009
|
NM_001035.3(RYR2):c.7094A>G (p.Asn2365Ser)
|
rs369774984
|
0.00009
|
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met)
|
rs769219555
|
0.00009
|
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val)
|
rs200675195
|
0.00009
|
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=)
|
rs183328495
|
0.00009
|
NM_001267550.2(TTN):c.16934C>T (p.Pro5645Leu)
|
rs370889765
|
0.00009
|
NM_001267550.2(TTN):c.33881C>G (p.Pro11294Arg)
|
rs372841136
|
0.00009
|
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met)
|
rs766145596
|
0.00009
|
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile)
|
rs375474669
|
0.00009
|
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His)
|
rs200100660
|
0.00009
|
NM_001267550.2(TTN):c.61337G>A (p.Arg20446His)
|
rs368278158
|
0.00009
|
NM_001267550.2(TTN):c.70864G>A (p.Val23622Ile)
|
rs72646892
|
0.00009
|
NM_001267550.2(TTN):c.71104G>T (p.Gly23702Trp)
|
rs750853901
|
0.00009
|
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp)
|
rs534003014
|
0.00009
|
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His)
|
rs373532064
|
0.00009
|
NM_001458.5(FLNC):c.4951+7G>A
|
rs370501464
|
0.00009
|
NM_001943.5(DSG2):c.2096G>T (p.Ser699Ile)
|
rs727504770
|
0.00009
|
NM_003476.5(CSRP3):c.190C>T (p.Arg64Cys)
|
rs368392588
|
0.00009
|
NM_003673.4(TCAP):c.388C>T (p.Arg130Cys)
|
rs374886575
|
0.00009
|
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe)
|
rs372922674
|
0.00009
|
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln)
|
rs201736018
|
0.00009
|
NM_004415.4(DSP):c.424C>T (p.Leu142Phe)
|
rs373769397
|
0.00009
|
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
|
rs377715841
|
0.00009
|
NM_004415.4(DSP):c.7852C>T (p.Pro2618Ser)
|
rs376005629
|
0.00009
|
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His)
|
rs765374050
|
0.00009
|
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg)
|
rs730880226
|
0.00009
|
NM_024422.6(DSC2):c.2251-5T>G
|
rs374262463
|
0.00009
|
NM_024422.6(DSC2):c.23G>T (p.Gly8Val)
|
rs794728063
|
0.00009
|
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser)
|
rs139979318
|
0.00009
|
NM_170707.4(LMNA):c.1390A>G (p.Met464Val)
|
rs200262654
|
0.00009
|
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)
|
rs56851164
|
0.00009
|
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu)
|
rs373056282
|
0.00008
|
NM_000257.4(MYH7):c.241C>T (p.Pro81Ser)
|
rs1489940065
|
0.00008
|
NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln)
|
rs759584454
|
0.00008
|
NM_000335.5(SCN5A):c.2989G>A (p.Ala997Thr)
|
rs137854609
|
0.00008
|
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val)
|
rs139924723
|
0.00008
|
NM_001035.3(RYR2):c.12047T>A (p.Phe4016Tyr)
|
rs375021201
|
0.00008
|
NM_001035.3(RYR2):c.13718G>A (p.Arg4573His)
|
rs371157286
|
0.00008
|
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln)
|
rs752144775
|
0.00008
|
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile)
|
rs185715460
|
0.00008
|
NM_001035.3(RYR2):c.4735G>A (p.Val1579Met)
|
rs763389778
|
0.00008
|
NM_001035.3(RYR2):c.629C>T (p.Thr210Ile)
|
rs371086868
|
0.00008
|
NM_001035.3(RYR2):c.6445A>G (p.Ile2149Val)
|
rs767258350
|
0.00008
|
NM_001035.3(RYR2):c.9397A>G (p.Ile3133Val)
|
rs1032783973
|
0.00008
|
NM_001035.3(RYR2):c.9518C>T (p.Thr3173Ile)
|
rs746161154
|
0.00008
|
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp)
|
rs372601642
|
0.00008
|
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp)
|
rs751551400
|
0.00008
|
NM_001103.4(ACTN2):c.154C>T (p.Leu52=)
|
rs199910162
|
0.00008
|
NM_001105206.3(LAMA4):c.4405G>A (p.Ala1469Thr)
|
rs727504595
|
0.00008
|
NM_001134363.3(RBM20):c.1858G>A (p.Asp620Asn)
|
rs541330074
|
0.00008
|
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln)
|
rs375798246
|
0.00008
|
NM_001267550.2(TTN):c.22420G>A (p.Ala7474Thr)
|
rs759713604
|
0.00008
|
NM_001267550.2(TTN):c.39709+9G>C
|
rs765647346
|
0.00008
|
NM_001927.4(DES):c.216C>A (p.Ser72Arg)
|
rs375719734
|
0.00008
|
NM_004415.4(DSP):c.107G>C (p.Gly36Ala)
|
rs778506459
|
0.00008
|
NM_004415.4(DSP):c.2125C>T (p.Leu709Phe)
|
rs1431507005
|
0.00008
|
NM_004415.4(DSP):c.7552G>A (p.Val2518Ile)
|
rs757394666
|
0.00008
|
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln)
|
rs763908636
|
0.00008
|
NM_014000.3(VCL):c.1490T>C (p.Ile497Thr)
|
rs572757800
|
0.00008
|
NM_014000.3(VCL):c.1621C>G (p.Leu541Val)
|
rs370229150
|
0.00008
|
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser)
|
rs200589374
|
0.00008
|
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly)
|
rs754797146
|
0.00008
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
NM_024422.6(DSC2):c.136G>A (p.Glu46Lys)
|
rs180908546
|
0.00008
|
NM_024422.6(DSC2):c.295T>A (p.Ser99Thr)
|
rs199714872
|
0.00008
|
NM_024422.6(DSC2):c.4G>A (p.Glu2Lys)
|
rs762556795
|
0.00008
|
NM_024422.6(DSC2):c.596G>A (p.Arg199His)
|
rs374707462
|
0.00008
|
NM_170707.4(LMNA):c.1381-5G>A
|
rs730880133
|
0.00008
|
NM_170707.4(LMNA):c.1488+6T>G
|
rs369642101
|
0.00008
|
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met)
|
rs765594825
|
0.00008
|
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg)
|
rs199728019
|
0.00007
|
NM_000256.3(MYBPC3):c.2672G>A (p.Arg891Gln)
|
rs727504378
|
0.00007
|
NM_000256.3(MYBPC3):c.3049G>A (p.Glu1017Lys)
|
rs368180702
|
0.00007
|
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His)
|
rs374255381
|
0.00007
|
NM_000256.3(MYBPC3):c.3742G>A (p.Gly1248Arg)
|
rs202147520
|
0.00007
|
NM_000256.3(MYBPC3):c.814C>T (p.Arg272Cys)
|
rs397516075
|
0.00007
|
NM_000256.3(MYBPC3):c.844C>T (p.Arg282Trp)
|
rs727504234
|
0.00007
|
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val)
|
rs370588133
|
0.00007
|
NM_001035.3(RYR2):c.1144G>A (p.Val382Met)
|
rs370057029
|
0.00007
|
NM_001035.3(RYR2):c.1396C>G (p.Pro466Ala)
|
rs376612295
|
0.00007
|
NM_001035.3(RYR2):c.2104G>A (p.Gly702Arg)
|
rs569386030
|
0.00007
|
NM_001035.3(RYR2):c.5822G>A (p.Arg1941His)
|
rs373600053
|
0.00007
|
NM_001035.3(RYR2):c.7495G>A (p.Ala2499Thr)
|
rs191850147
|
0.00007
|
NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu)
|
rs146568303
|
0.00007
|
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr)
|
rs373797219
|
0.00007
|
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys)
|
rs375598471
|
0.00007
|
NM_001267550.2(TTN):c.44423A>C (p.Lys14808Thr)
|
rs374419129
|
0.00007
|
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr)
|
rs377000174
|
0.00007
|
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met)
|
rs144398602
|
0.00007
|
NM_001267550.2(TTN):c.78980G>A (p.Arg26327Gln)
|
rs370367786
|
0.00007
|
NM_001267550.2(TTN):c.87220C>G (p.Pro29074Ala)
|
rs761409208
|
0.00007
|
NM_001276345.2(TNNT2):c.762G>T (p.Glu254Asp)
|
rs45466197
|
0.00007
|
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln)
|
rs765173966
|
0.00007
|
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile)
|
rs769137357
|
0.00007
|
NM_002230.4(JUP):c.427G>A (p.Ala143Thr)
|
rs375788626
|
0.00007
|
NM_002471.4(MYH6):c.4036C>T (p.Arg1346Trp)
|
rs372736126
|
0.00007
|
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu)
|
rs747580402
|
0.00007
|
NM_004415.4(DSP):c.4901G>A (p.Arg1634Gln)
|
rs144106775
|
0.00007
|
NM_004415.4(DSP):c.5363A>G (p.Gln1788Arg)
|
rs139673146
|
0.00007
|
NM_005061.3(RPL3L):c.722C>T (p.Pro241Leu)
|
rs748822456
|
0.00007
|
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg)
|
rs751094298
|
0.00007
|
NM_024334.3(TMEM43):c.-4C>T
|
rs760598925
|
0.00007
|
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln)
|
rs201806320
|
0.00007
|
NM_144573.4(NEXN):c.1996A>G (p.Thr666Ala)
|
rs374000722
|
0.00007
|
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys)
|
rs369486891
|
0.00007
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys)
|
rs368770848
|
0.00006
|
NM_000256.3(MYBPC3):c.1309G>A (p.Val437Met)
|
rs730880535
|
0.00006
|
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys)
|
rs397515956
|
0.00006
|
NM_000256.3(MYBPC3):c.2308+9G>A
|
rs769533145
|
0.00006
|
NM_000256.3(MYBPC3):c.2518G>A (p.Val840Met)
|
rs376936056
|
0.00006
|
NM_000256.3(MYBPC3):c.604A>C (p.Lys202Gln)
|
rs730880623
|
0.00006
|
NM_000256.3(MYBPC3):c.752A>T (p.Asn251Ile)
|
rs368588523
|
0.00006
|
NM_000256.3(MYBPC3):c.94G>A (p.Glu32Lys)
|
rs730880575
|
0.00006
|
NM_000257.4(MYH7):c.1000-7C>T
|
rs200129563
|
0.00006
|
NM_000257.4(MYH7):c.115G>A (p.Val39Met)
|
rs376160714
|
0.00006
|
NM_000257.4(MYH7):c.1888+8G>T
|
rs200668471
|
0.00006
|
NM_000257.4(MYH7):c.2922G>A (p.Lys974=)
|
rs147727900
|
0.00006
|
NM_000257.4(MYH7):c.3116A>G (p.Glu1039Gly)
|
rs199573700
|
0.00006
|
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn)
|
rs730880906
|
0.00006
|
NM_000257.4(MYH7):c.4210G>A (p.Val1404Met)
|
rs371552806
|
0.00006
|
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser)
|
rs727503244
|
0.00006
|
NM_000257.4(MYH7):c.4353+5G>A
|
rs200436876
|
0.00006
|
NM_000257.4(MYH7):c.4363G>A (p.Glu1455Lys)
|
rs876661373
|
0.00006
|
NM_000257.4(MYH7):c.4709C>A (p.Ala1570Glu)
|
rs730880807
|
0.00006
|
NM_000257.4(MYH7):c.5326A>G (p.Ser1776Gly)
|
rs369437262
|
0.00006
|
NM_000257.4(MYH7):c.5779A>T (p.Ile1927Phe)
|
rs767300277
|
0.00006
|
NM_000257.4(MYH7):c.968T>C (p.Ile323Thr)
|
rs397516275
|
0.00006
|
NM_000335.5(SCN5A):c.101G>A (p.Arg34His)
|
rs199473046
|
0.00006
|
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn)
|
rs184709702
|
0.00006
|
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn)
|
rs772334698
|
0.00006
|
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val)
|
rs145324631
|
0.00006
|
NM_001005242.3(PKP2):c.985A>C (p.Ser329Arg)
|
rs779173447
|
0.00006
|
NM_001035.3(RYR2):c.10725+4A>T
|
rs116444428
|
0.00006
|
NM_001035.3(RYR2):c.11974A>C (p.Asn3992His)
|
rs781352451
|
0.00006
|
NM_001035.3(RYR2):c.12076T>G (p.Leu4026Val)
|
rs765141566
|
0.00006
|
NM_001035.3(RYR2):c.13237C>A (p.Pro4413Thr)
|
rs773441342
|
0.00006
|
NM_001035.3(RYR2):c.2045C>G (p.Thr682Arg)
|
rs377285489
|
0.00006
|
NM_001035.3(RYR2):c.2717C>T (p.Pro906Leu)
|
rs397516522
|
0.00006
|
NM_001035.3(RYR2):c.3164G>A (p.Arg1055His)
|
rs757490010
|
0.00006
|
NM_001035.3(RYR2):c.3266G>A (p.Arg1089His)
|
rs552564367
|
0.00006
|
NM_001035.3(RYR2):c.4596+4C>T
|
rs397516532
|
0.00006
|
NM_001035.3(RYR2):c.6320C>T (p.Thr2107Met)
|
rs370331492
|
0.00006
|
NM_001035.3(RYR2):c.76G>A (p.Ala26Thr)
|
rs368974917
|
0.00006
|
NM_001035.3(RYR2):c.8248T>A (p.Ser2750Thr)
|
rs547987180
|
0.00006
|
NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln)
|
rs369276868
|
0.00006
|
NM_001103.4(ACTN2):c.2568G>A (p.Pro856=)
|
rs149554430
|
0.00006
|
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=)
|
rs141988342
|
0.00006
|
NM_001105206.3(LAMA4):c.5437G>A (p.Gly1813Ser)
|
rs142048329
|
0.00006
|
NM_001105206.3(LAMA4):c.928C>G (p.His310Asp)
|
rs374968791
|
0.00006
|
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr)
|
rs727504476
|
0.00006
|
NM_001267550.2(TTN):c.107696T>C (p.Ile35899Thr)
|
rs372276487
|
0.00006
|
NM_001267550.2(TTN):c.1541G>A (p.Arg514Lys)
|
rs139178471
|
0.00006
|
NM_001267550.2(TTN):c.17302G>A (p.Asp5768Asn)
|
rs576904726
|
0.00006
|
NM_001267550.2(TTN):c.32198-10T>C
|
rs371121439
|
0.00006
|
NM_001267550.2(TTN):c.41812A>G (p.Met13938Val)
|
rs201725483
|
0.00006
|
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu)
|
rs751929345
|
0.00006
|
NM_001267550.2(TTN):c.48595T>C (p.Ser16199Pro)
|
rs752629624
|
0.00006
|
NM_001267550.2(TTN):c.54518C>A (p.Pro18173Gln)
|
rs794729458
|
0.00006
|
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg)
|
rs770499179
|
0.00006
|
NM_001267550.2(TTN):c.60364G>A (p.Asp20122Asn)
|
rs776191153
|
0.00006
|
NM_001267550.2(TTN):c.63877G>A (p.Asp21293Asn)
|
rs199505416
|
0.00006
|
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His)
|
rs764882950
|
0.00006
|
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr)
|
rs371818894
|
0.00006
|
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup)
|
rs772268958
|
0.00006
|
NM_001267550.2(TTN):c.77749T>C (p.Tyr25917His)
|
rs370137092
|
0.00006
|
NM_001267550.2(TTN):c.80462C>T (p.Pro26821Leu)
|
rs200489046
|
0.00006
|
NM_001267550.2(TTN):c.82084A>G (p.Ile27362Val)
|
rs886039181
|
0.00006
|
NM_001267550.2(TTN):c.84436G>A (p.Val28146Ile)
|
rs371366196
|
0.00006
|
NM_001267550.2(TTN):c.93131G>T (p.Gly31044Val)
|
rs570464905
|
0.00006
|
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile)
|
rs779663332
|
0.00006
|
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser)
|
rs202011992
|
0.00006
|
NM_001267550.2(TTN):c.97579G>A (p.Gly32527Ser)
|
rs762160311
|
0.00006
|
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala)
|
rs372494397
|
0.00006
|
NM_001943.5(DSG2):c.513G>T (p.Leu171Phe)
|
rs199926617
|
0.00006
|
NM_001943.5(DSG2):c.98A>G (p.Asn33Ser)
|
rs727505205
|
0.00006
|
NM_002230.4(JUP):c.109G>A (p.Val37Ile)
|
rs150769772
|
0.00006
|
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del)
|
rs782439900
|
0.00006
|
NM_002471.4(MYH6):c.3177C>T (p.Gly1059=)
|
rs529676901
|
0.00006
|
NM_002471.4(MYH6):c.4991G>A (p.Arg1664His)
|
rs778287981
|
0.00006
|
NM_003673.4(TCAP):c.480G>A (p.Met160Ile)
|
rs755395354
|
0.00006
|
NM_004281.4(BAG3):c.1214C>T (p.Ala405Val)
|
rs11199064
|
0.00006
|
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser)
|
rs746956979
|
0.00006
|
NM_004415.4(DSP):c.2122G>A (p.Glu708Lys)
|
rs773113261
|
0.00006
|
NM_004415.4(DSP):c.3294C>G (p.Asp1098Glu)
|
rs535762713
|
0.00006
|
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser)
|
rs2491079
|
0.00006
|
NM_004415.4(DSP):c.3836C>T (p.Ala1279Val)
|
rs753270443
|
0.00006
|
NM_004415.4(DSP):c.4022G>A (p.Arg1341His)
|
rs112242645
|
0.00006
|
NM_004415.4(DSP):c.4117A>G (p.Thr1373Ala)
|
rs200745877
|
0.00006
|
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn)
|
rs138588403
|
0.00006
|
NM_004415.4(DSP):c.6188G>A (p.Arg2063Gln)
|
rs142927608
|
0.00006
|
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp)
|
rs149827779
|
0.00006
|
NM_014000.3(VCL):c.1743+6A>T
|
rs370709860
|
0.00006
|
NM_014000.3(VCL):c.2467C>T (p.Arg823Trp)
|
rs779047174
|
0.00006
|
NM_014000.3(VCL):c.404T>C (p.Ile135Thr)
|
rs373744314
|
0.00006
|
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr)
|
rs144857453
|
0.00006
|
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu)
|
rs182750960
|
0.00006
|
NM_024334.3(TMEM43):c.214G>A (p.Val72Met)
|
rs368603914
|
0.00006
|
NM_024334.3(TMEM43):c.53A>G (p.Lys18Arg)
|
rs1214893591
|
0.00006
|
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu)
|
rs140380494
|
0.00006
|
NM_024422.6(DSC2):c.1091T>G (p.Val364Gly)
|
rs368089478
|
0.00006
|
NM_024422.6(DSC2):c.2162C>T (p.Thr721Met)
|
rs759513934
|
0.00006
|
NM_024422.6(DSC2):c.2245A>C (p.Lys749Gln)
|
rs765067237
|
0.00006
|
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe)
|
rs141873745
|
0.00006
|
NM_024422.6(DSC2):c.266C>T (p.Ser89Leu)
|
rs141379407
|
0.00006
|
NM_033118.4(MYLK2):c.463A>T (p.Ile155Phe)
|
rs140233643
|
0.00006
|
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys)
|
rs368812830
|
0.00006
|
NM_144573.4(NEXN):c.687+4A>T
|
rs754061340
|
0.00006
|
NM_170707.4(LMNA):c.1004G>A (p.Arg335Gln)
|
rs138592977
|
0.00006
|
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg)
|
rs201583907
|
0.00006
|
NM_170707.4(LMNA):c.937-7C>G
|
rs267607681
|
0.00006
|
NM_000116.5(TAFAZZIN):c.110-6C>T
|
rs782099193
|
0.00005
|
NM_000117.3(EMD):c.355C>A (p.Gln119Lys)
|
rs398123157
|
0.00005
|
NM_000256.3(MYBPC3):c.1372C>T (p.Arg458Cys)
|
rs377577698
|
0.00005
|
NM_000256.3(MYBPC3):c.1672G>A (p.Ala558Thr)
|
rs727503198
|
0.00005
|
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp)
|
rs201596087
|
0.00005
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000256.3(MYBPC3):c.187C>T (p.Arg63Trp)
|
rs373315466
|
0.00005
|
NM_000256.3(MYBPC3):c.3123C>T (p.Gly1041=)
|
rs374626656
|
0.00005
|
NM_000256.3(MYBPC3):c.3190+4C>T
|
rs571457875
|
0.00005
|
NM_000256.3(MYBPC3):c.3569G>A (p.Arg1190His)
|
rs117354682
|
0.00005
|
NM_000256.3(MYBPC3):c.3799C>T (p.Arg1267Cys)
|
rs765825263
|
0.00005
|
NM_000256.3(MYBPC3):c.534G>T (p.Val178=)
|
rs759249105
|
0.00005
|
NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala)
|
rs375774648
|
0.00005
|
NM_000257.4(MYH7):c.1261A>G (p.Ile421Val)
|
rs747189113
|
0.00005
|
NM_000257.4(MYH7):c.4010G>A (p.Arg1337Gln)
|
rs368575559
|
0.00005
|
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile)
|
rs144200285
|
0.00005
|
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)
|
rs200303340
|
0.00005
|
NM_000257.4(MYH7):c.67C>T (p.Arg23Trp)
|
rs730880828
|
0.00005
|
NM_000335.5(SCN5A):c.3337G>A (p.Asp1113Asn)
|
rs199473195
|
0.00005
|
NM_000335.5(SCN5A):c.4811-5C>T
|
rs765962519
|
0.00005
|
NM_000371.4(TTR):c.385G>A (p.Ala129Thr)
|
rs267607159
|
0.00005
|
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn)
|
rs199567559
|
0.00005
|
NM_001005242.3(PKP2):c.1379-2000T>A
|
rs769899368
|
0.00005
|
NM_001005242.3(PKP2):c.1451C>T (p.Thr484Met)
|
rs774942476
|
0.00005
|
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp)
|
rs767935208
|
0.00005
|
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys)
|
rs564987195
|
0.00005
|
NM_001005242.3(PKP2):c.974C>T (p.Ala325Val)
|
rs201803918
|
0.00005
|
NM_001035.3(RYR2):c.11206G>A (p.Ala3736Thr)
|
rs375095599
|
0.00005
|
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser)
|
rs199624074
|
0.00005
|
NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser)
|
rs2009813
|
0.00005
|
NM_001035.3(RYR2):c.2039A>G (p.Asp680Gly)
|
rs758835308
|
0.00005
|
NM_001035.3(RYR2):c.5793T>G (p.Asp1931Glu)
|
rs372222227
|
0.00005
|
NM_001035.3(RYR2):c.8147A>T (p.Lys2716Ile)
|
rs749618476
|
0.00005
|
NM_001035.3(RYR2):c.815G>T (p.Arg272Leu)
|
rs377368967
|
0.00005
|
NM_001035.3(RYR2):c.9251G>A (p.Arg3084Gln)
|
rs747605864
|
0.00005
|
NM_001103.4(ACTN2):c.127-3C>A
|
rs368775036
|
0.00005
|
NM_001103.4(ACTN2):c.2278G>A (p.Ala760Thr)
|
rs757134452
|
0.00005
|
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr)
|
rs200854335
|
0.00005
|
NM_001267550.2(TTN):c.102424A>C (p.Ile34142Leu)
|
rs528796532
|
0.00005
|
NM_001267550.2(TTN):c.102451G>C (p.Gly34151Arg)
|
rs191522469
|
0.00005
|
NM_001267550.2(TTN):c.105424G>A (p.Glu35142Lys)
|
rs765274398
|
0.00005
|
NM_001267550.2(TTN):c.106100C>T (p.Thr35367Met)
|
rs377056111
|
0.00005
|
NM_001267550.2(TTN):c.18267T>A (p.Asp6089Glu)
|
rs754848806
|
0.00005
|
NM_001267550.2(TTN):c.28849G>A (p.Glu9617Lys)
|
rs144025230
|
0.00005
|
NM_001267550.2(TTN):c.4153G>A (p.Ala1385Thr)
|
rs140760859
|
0.00005
|
NM_001267550.2(TTN):c.415C>T (p.Arg139Trp)
|
rs752970602
|
0.00005
|
NM_001267550.2(TTN):c.60140G>A (p.Arg20047Lys)
|
rs371060708
|
0.00005
|
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn)
|
rs727503577
|
0.00005
|
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val)
|
rs367914610
|
0.00005
|
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His)
|
rs371615296
|
0.00005
|
NM_001267550.2(TTN):c.8788G>A (p.Val2930Ile)
|
rs56373393
|
0.00005
|
NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro)
|
rs568322187
|
0.00005
|
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=)
|
rs727504857
|
0.00005
|
NM_001267550.2(TTN):c.9851A>G (p.Lys3284Arg)
|
rs147903846
|
0.00005
|
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln)
|
rs371531675
|
0.00005
|
NM_001276345.2(TNNT2):c.863G>A (p.Arg288His)
|
rs397516484
|
0.00005
|
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His)
|
rs141121678
|
0.00005
|
NM_001318895.3(FHL2):c.725G>A (p.Arg242Gln)
|
rs188279857
|
0.00005
|
NM_001458.5(FLNC):c.3209C>T (p.Pro1070Leu)
|
rs370391049
|
0.00005
|
NM_001458.5(FLNC):c.6052C>T (p.Arg2018Cys)
|
rs1335627502
|
0.00005
|
NM_001458.5(FLNC):c.7111G>A (p.Val2371Ile)
|
rs552252122
|
0.00005
|
NM_001943.5(DSG2):c.175C>T (p.Arg59Trp)
|
rs749602291
|
0.00005
|
NM_001943.5(DSG2):c.2275G>A (p.Gly759Arg)
|
rs765793636
|
0.00005
|
NM_001943.5(DSG2):c.2341G>T (p.Ala781Ser)
|
rs760402926
|
0.00005
|
NM_001943.5(DSG2):c.2471G>A (p.Arg824His)
|
rs376858770
|
0.00005
|
NM_001943.5(DSG2):c.862G>A (p.Val288Ile)
|
rs780374242
|
0.00005
|
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile)
|
rs201040643
|
0.00005
|
NM_002230.4(JUP):c.1130G>A (p.Arg377His)
|
rs794729044
|
0.00005
|
NM_002471.4(MYH6):c.5077G>A (p.Val1693Met)
|
rs373457153
|
0.00005
|
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg)
|
rs750886219
|
0.00005
|
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg)
|
rs137852765
|
0.00005
|
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala)
|
rs397516859
|
0.00005
|
NM_004415.4(DSP):c.1034A>G (p.Asp345Gly)
|
rs753855393
|
0.00005
|
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile)
|
rs749820299
|
0.00005
|
NM_004415.4(DSP):c.5063C>T (p.Ala1688Val)
|
rs372288373
|
0.00005
|
NM_004415.4(DSP):c.5221G>A (p.Ala1741Thr)
|
rs777773801
|
0.00005
|
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln)
|
rs751849031
|
0.00005
|
NM_004415.4(DSP):c.643G>A (p.Glu215Lys)
|
rs148095061
|
0.00005
|
NM_004415.4(DSP):c.6452G>A (p.Arg2151Gln)
|
rs367759510
|
0.00005
|
NM_004415.4(DSP):c.6565C>T (p.Arg2189Trp)
|
rs767661570
|
0.00005
|
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu)
|
rs374262024
|
0.00005
|
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln)
|
rs769706539
|
0.00005
|
NM_004415.4(DSP):c.8281G>A (p.Ala2761Thr)
|
rs376751288
|
0.00005
|
NM_004415.4(DSP):c.8462C>T (p.Ser2821Leu)
|
rs201826850
|
0.00005
|
NM_004415.4(DSP):c.8524C>T (p.Arg2842Cys)
|
rs144850908
|
0.00005
|
NM_004415.4(DSP):c.916G>A (p.Ala306Thr)
|
rs368193211
|
0.00005
|
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr)
|
rs774976112
|
0.00005
|
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)
|
rs760826751
|
0.00005
|
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu)
|
rs41317142
|
0.00005
|
NM_024334.3(TMEM43):c.679C>G (p.His227Asp)
|
rs201460674
|
0.00005
|
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys)
|
rs879255385
|
0.00005
|
NM_024422.6(DSC2):c.835C>T (p.Arg279Cys)
|
rs193922708
|
0.00005
|
NM_033337.3(CAV3):c.244G>A (p.Val82Ile)
|
rs112626848
|
0.00005
|
NM_170707.4(LMNA):c.329G>A (p.Arg110His)
|
rs556237236
|
0.00005
|
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln)
|
rs267607570
|
0.00005
|
NM_000256.3(MYBPC3):c.-10G>A
|
rs567307744
|
0.00004
|
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln)
|
rs397515885
|
0.00004
|
NM_000256.3(MYBPC3):c.107C>A (p.Ala36Glu)
|
rs376646845
|
0.00004
|
NM_000256.3(MYBPC3):c.1294G>A (p.Ala432Thr)
|
rs371167525
|
0.00004
|
NM_000256.3(MYBPC3):c.131G>A (p.Arg44His)
|
rs369205562
|
0.00004
|
NM_000256.3(MYBPC3):c.2056G>C (p.Ala686Pro)
|
rs367992212
|
0.00004
|
NM_000256.3(MYBPC3):c.2177G>A (p.Arg726His)
|
rs397515953
|
0.00004
|
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met)
|
rs564378953
|
0.00004
|
NM_000256.3(MYBPC3):c.2200A>G (p.Ser734Gly)
|
rs747081382
|
0.00004
|
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00004
|
NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val)
|
rs774172488
|
0.00004
|
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu)
|
rs773819168
|
0.00004
|
NM_000256.3(MYBPC3):c.2807C>T (p.Thr936Met)
|
rs374946555
|
0.00004
|
NM_000256.3(MYBPC3):c.2939G>A (p.Arg980His)
|
rs727503179
|
0.00004
|
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln)
|
rs727504235
|
0.00004
|
NM_000256.3(MYBPC3):c.3052G>C (p.Glu1018Gln)
|
rs372003333
|
0.00004
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met)
|
rs371061770
|
0.00004
|
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)
|
rs121909378
|
0.00004
|
NM_000256.3(MYBPC3):c.3452C>T (p.Ala1151Val)
|
rs779884363
|
0.00004
|
NM_000256.3(MYBPC3):c.3580G>A (p.Ala1194Thr)
|
rs397516026
|
0.00004
|
NM_000256.3(MYBPC3):c.3614G>A (p.Arg1205Gln)
|
rs730880596
|
0.00004
|
NM_000256.3(MYBPC3):c.3676C>T (p.Arg1226Cys)
|
rs397516033
|
0.00004
|
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His)
|
rs730880142
|
0.00004
|
NM_000256.3(MYBPC3):c.479G>A (p.Arg160Gln)
|
rs730880617
|
0.00004
|
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu)
|
rs727503216
|
0.00004
|
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg)
|
rs373730381
|
0.00004
|
NM_000256.3(MYBPC3):c.799C>G (p.Leu267Val)
|
rs370941975
|
0.00004
|
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln)
|
rs11570060
|
0.00004
|
NM_000256.3(MYBPC3):c.956A>C (p.Glu319Ala)
|
rs545675333
|
0.00004
|
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn)
|
rs397516106
|
0.00004
|
NM_000257.4(MYH7):c.211G>A (p.Val71Met)
|
rs730880830
|
0.00004
|
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val)
|
rs397516138
|
0.00004
|
NM_000257.4(MYH7):c.2425G>T (p.Asp809Tyr)
|
rs397516147
|
0.00004
|
NM_000257.4(MYH7):c.2585C>T (p.Ala862Val)
|
rs149576470
|
0.00004
|
NM_000257.4(MYH7):c.2822G>A (p.Arg941His)
|
rs765458590
|
0.00004
|
NM_000257.4(MYH7):c.3125A>G (p.Lys1042Arg)
|
rs991485633
|
0.00004
|
NM_000257.4(MYH7):c.3854-14T>G
|
rs371212384
|
0.00004
|
NM_000257.4(MYH7):c.3974C>T (p.Ala1325Val)
|
rs768393069
|
0.00004
|
NM_000257.4(MYH7):c.4097C>T (p.Ser1366Leu)
|
rs767000995
|
0.00004
|
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)
|
rs397516211
|
0.00004
|
NM_000257.4(MYH7):c.4721G>A (p.Arg1574Gln)
|
rs779715863
|
0.00004
|
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln)
|
rs730880808
|
0.00004
|
NM_000257.4(MYH7):c.4904T>C (p.Met1635Thr)
|
rs145822086
|
0.00004
|
NM_000257.4(MYH7):c.4954G>T (p.Asp1652Tyr)
|
rs397516233
|
0.00004
|
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met)
|
rs139222507
|
0.00004
|
NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln)
|
rs371855540
|
0.00004
|
NM_000257.4(MYH7):c.5495G>A (p.Arg1832His)
|
rs730880820
|
0.00004
|
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu)
|
rs727503242
|
0.00004
|
NM_000258.3(MYL3):c.367A>G (p.Lys123Glu)
|
rs536445081
|
0.00004
|
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys)
|
rs143852164
|
0.00004
|
NM_000258.3(MYL3):c.466G>A (p.Val156Met)
|
rs199474707
|
0.00004
|
NM_000258.3(MYL3):c.476C>T (p.Thr159Met)
|
rs748832105
|
0.00004
|
NM_000363.5(TNNI3):c.236G>T (p.Arg79Leu)
|
rs397516342
|
0.00004
|
NM_000363.5(TNNI3):c.282+5C>G
|
rs770260866
|
0.00004
|
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter)
|
rs730881068
|
0.00004
|
NM_000363.5(TNNI3):c.293G>A (p.Arg98Gln)
|
rs747522089
|
0.00004
|
NM_000363.5(TNNI3):c.308G>A (p.Arg103His)
|
rs371000425
|
0.00004
|
NM_000363.5(TNNI3):c.373-11T>A
|
rs746918706
|
0.00004
|
NM_000363.5(TNNI3):c.556C>T (p.Arg186Trp)
|
rs760978512
|
0.00004
|
NM_000432.4(MYL2):c.459G>C (p.Lys153Asn)
|
rs149078011
|
0.00004
|
NM_000432.4(MYL2):c.97T>C (p.Phe33Leu)
|
rs730880945
|
0.00004
|
NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn)
|
rs144401285
|
0.00004
|
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln)
|
rs370868564
|
0.00004
|
NM_001005242.3(PKP2):c.1238G>A (p.Arg413Gln)
|
rs200715477
|
0.00004
|
NM_001005242.3(PKP2):c.1379-1967_1379-1966del
|
rs1491439367
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2022G>A
|
rs111450489
|
0.00004
|
NM_001005242.3(PKP2):c.1379-2102C>G
|
rs762631031
|
0.00004
|
NM_001005242.3(PKP2):c.1537A>G (p.Asn513Asp)
|
rs200343561
|
0.00004
|
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr)
|
rs558637427
|
0.00004
|
NM_001005242.3(PKP2):c.1825A>G (p.Arg609Gly)
|
rs775103879
|
0.00004
|
NM_001005242.3(PKP2):c.1874G>C (p.Ser625Thr)
|
rs779926314
|
0.00004
|
NM_001005242.3(PKP2):c.2002G>A (p.Gly668Arg)
|
rs200844640
|
0.00004
|
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val)
|
rs143503798
|
0.00004
|
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln)
|
rs397517020
|
0.00004
|
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=)
|
rs727504509
|
0.00004
|
NM_001005242.3(PKP2):c.2480G>A (p.Arg827Gln)
|
rs372263407
|
0.00004
|
NM_001005242.3(PKP2):c.2504T>C (p.Leu835Pro)
|
rs775572104
|
0.00004
|
NM_001005242.3(PKP2):c.364C>T (p.Arg122Cys)
|
rs759377911
|
0.00004
|
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr)
|
rs141438322
|
0.00004
|
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn)
|
rs373222905
|
0.00004
|
NM_001005242.3(PKP2):c.634C>T (p.Arg212Cys)
|
rs766379716
|
0.00004
|
NM_001005242.3(PKP2):c.950C>T (p.Ala317Val)
|
rs775318947
|
0.00004
|
NM_001006630.2(CHRM2):c.1189A>G (p.Ile397Val)
|
rs745902607
|
0.00004
|
NM_001018004.2(TPM1):c.773-1153G>A
|
rs772871597
|
0.00004
|
NM_001018005.2(TPM1):c.851+7G>A
|
rs765721221
|
0.00004
|
NM_001035.3(RYR2):c.10640C>T (p.Thr3547Met)
|
rs552050895
|
0.00004
|
NM_001035.3(RYR2):c.11476+10A>C
|
rs794728702
|
0.00004
|
NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln)
|
rs750908017
|
0.00004
|
NM_001035.3(RYR2):c.1249C>G (p.Arg417Gly)
|
rs564822776
|
0.00004
|
NM_001035.3(RYR2):c.12541G>A (p.Gly4181Arg)
|
rs775477470
|
0.00004
|
NM_001035.3(RYR2):c.12664G>A (p.Glu4222Lys)
|
rs758453646
|
0.00004
|
NM_001035.3(RYR2):c.12859T>C (p.Tyr4287His)
|
rs190009333
|
0.00004
|
NM_001035.3(RYR2):c.12944G>A (p.Gly4315Glu)
|
rs766109950
|
0.00004
|
NM_001035.3(RYR2):c.13254A>T (p.Lys4418Asn)
|
rs934659622
|
0.00004
|
NM_001035.3(RYR2):c.1358G>C (p.Ser453Thr)
|
rs761911597
|
0.00004
|
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe)
|
rs727504508
|
0.00004
|
NM_001035.3(RYR2):c.2512C>G (p.Arg838Gly)
|
rs1407524067
|
0.00004
|
NM_001035.3(RYR2):c.2521A>G (p.Lys841Glu)
|
rs563091152
|
0.00004
|
NM_001035.3(RYR2):c.2545G>A (p.Asp849Asn)
|
rs372569289
|
0.00004
|
NM_001035.3(RYR2):c.2629C>T (p.His877Tyr)
|
rs372575878
|
0.00004
|
NM_001035.3(RYR2):c.3025C>T (p.Arg1009Trp)
|
rs368040638
|
0.00004
|
NM_001035.3(RYR2):c.309G>A (p.Lys103=)
|
rs532274202
|
0.00004
|
NM_001035.3(RYR2):c.3397C>T (p.Arg1133Cys)
|
rs748085424
|
0.00004
|
NM_001035.3(RYR2):c.3481G>C (p.Val1161Leu)
|
rs372761438
|
0.00004
|
NM_001035.3(RYR2):c.3971G>C (p.Gly1324Ala)
|
rs773678614
|
0.00004
|
NM_001035.3(RYR2):c.4076T>C (p.Val1359Ala)
|
rs1005458283
|
0.00004
|
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile)
|
rs201675951
|
0.00004
|
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=)
|
rs369323506
|
0.00004
|
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met)
|
rs770863319
|
0.00004
|
NM_001035.3(RYR2):c.5593G>A (p.Glu1865Lys)
|
rs553819263
|
0.00004
|
NM_001035.3(RYR2):c.6299G>A (p.Arg2100Gln)
|
rs796202631
|
0.00004
|
NM_001035.3(RYR2):c.6433G>C (p.Gly2145Arg)
|
rs587782974
|
0.00004
|
NM_001035.3(RYR2):c.7076G>A (p.Arg2359Gln)
|
rs727504976
|
0.00004
|
NM_001035.3(RYR2):c.7459C>A (p.Leu2487Ile)
|
rs748581317
|
0.00004
|
NM_001035.3(RYR2):c.8309T>C (p.Ile2770Thr)
|
rs397516550
|
0.00004
|
NM_001035.3(RYR2):c.950T>C (p.Met317Thr)
|
rs367601258
|
0.00004
|
NM_001035.3(RYR2):c.9736A>G (p.Met3246Val)
|
rs745839689
|
0.00004
|
NM_001035.3(RYR2):c.982G>A (p.Ala328Thr)
|
rs201669522
|
0.00004
|
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His)
|
rs201335965
|
0.00004
|
NM_001105206.3(LAMA4):c.1385G>A (p.Arg462Gln)
|
rs781977997
|
0.00004
|
NM_001134363.3(RBM20):c.1767G>T (p.Arg589=)
|
rs929489764
|
0.00004
|
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu)
|
rs191342808
|
0.00004
|
NM_001134363.3(RBM20):c.2371C>T (p.Arg791Trp)
|
rs529403382
|
0.00004
|
NM_001134363.3(RBM20):c.3574-6C>G
|
rs762069628
|
0.00004
|
NM_001134363.3(RBM20):c.57G>T (p.Pro19=)
|
rs781263787
|
0.00004
|
NM_001232.4(CASQ2):c.376G>C (p.Asp126His)
|
rs727502908
|
0.00004
|
NM_001232.4(CASQ2):c.751C>T (p.Arg251Cys)
|
rs781113955
|
0.00004
|
NM_001267550.2(TTN):c.102272G>A (p.Arg34091Gln)
|
rs763708375
|
0.00004
|
NM_001267550.2(TTN):c.104694A>C (p.Arg34898Ser)
|
rs755502219
|
0.00004
|
NM_001267550.2(TTN):c.16010A>G (p.Asn5337Ser)
|
rs752924679
|
0.00004
|
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro)
|
rs776790387
|
0.00004
|
NM_001267550.2(TTN):c.18037T>C (p.Tyr6013His)
|
rs548015673
|
0.00004
|
NM_001267550.2(TTN):c.19770A>G (p.Thr6590=)
|
rs775289296
|
0.00004
|
NM_001267550.2(TTN):c.21844G>A (p.Glu7282Lys)
|
rs778532757
|
0.00004
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu)
|
rs200061856
|
0.00004
|
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn)
|
rs766935265
|
0.00004
|
NM_001267550.2(TTN):c.24196G>A (p.Asp8066Asn)
|
rs755202091
|
0.00004
|
NM_001267550.2(TTN):c.24769C>G (p.Leu8257Val)
|
rs371322658
|
0.00004
|
NM_001267550.2(TTN):c.28093C>T (p.Arg9365Trp)
|
rs190600127
|
0.00004
|
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys)
|
rs375266859
|
0.00004
|
NM_001267550.2(TTN):c.29309G>A (p.Arg9770Gln)
|
rs368309068
|
0.00004
|
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr)
|
rs201635835
|
0.00004
|
NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg)
|
rs541811273
|
0.00004
|
NM_001267550.2(TTN):c.39212-9C>G
|
rs373056460
|
0.00004
|
NM_001267550.2(TTN):c.40558+1G>A
|
rs368219776
|
0.00004
|
NM_001267550.2(TTN):c.42383G>C (p.Gly14128Ala)
|
rs370793851
|
0.00004
|
NM_001267550.2(TTN):c.42851G>A (p.Arg14284His)
|
rs368572799
|
0.00004
|
NM_001267550.2(TTN):c.4646-7C>A
|
rs758516007
|
0.00004
|
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His)
|
rs397517593
|
0.00004
|
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His)
|
rs140914855
|
0.00004
|
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met)
|
rs370629962
|
0.00004
|
NM_001267550.2(TTN):c.56884C>T (p.Arg18962Trp)
|
rs556286196
|
0.00004
|
NM_001267550.2(TTN):c.58124A>G (p.Lys19375Arg)
|
rs374594411
|
0.00004
|
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu)
|
rs374118468
|
0.00004
|
NM_001267550.2(TTN):c.60869T>C (p.Val20290Ala)
|
rs550655820
|
0.00004
|
NM_001267550.2(TTN):c.62859A>T (p.Lys20953Asn)
|
rs765002114
|
0.00004
|
NM_001267550.2(TTN):c.63458T>C (p.Ile21153Thr)
|
rs772411127
|
0.00004
|
NM_001267550.2(TTN):c.64885G>A (p.Glu21629Lys)
|
rs746364765
|
0.00004
|
NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp)
|
rs371856109
|
0.00004
|
NM_001267550.2(TTN):c.67210G>A (p.Val22404Met)
|
rs369257896
|
0.00004
|
NM_001267550.2(TTN):c.70424G>A (p.Arg23475His)
|
rs370257707
|
0.00004
|
NM_001267550.2(TTN):c.70748C>A (p.Thr23583Lys)
|
rs397517687
|
0.00004
|
NM_001267550.2(TTN):c.78039A>C (p.Glu26013Asp)
|
rs755117644
|
0.00004
|
NM_001267550.2(TTN):c.79251G>C (p.Glu26417Asp)
|
rs369019463
|
0.00004
|
NM_001267550.2(TTN):c.80941C>T (p.Arg26981Trp)
|
rs779878975
|
0.00004
|
NM_001267550.2(TTN):c.8494G>C (p.Val2832Leu)
|
rs375549179
|
0.00004
|
NM_001267550.2(TTN):c.85723G>A (p.Glu28575Lys)
|
rs760762822
|
0.00004
|
NM_001267550.2(TTN):c.9050G>A (p.Arg3017Lys)
|
rs372303620
|
0.00004
|
NM_001267550.2(TTN):c.94507G>A (p.Ala31503Thr)
|
rs375657115
|
0.00004
|
NM_001267550.2(TTN):c.9650A>C (p.Glu3217Ala)
|
rs1014216424
|
0.00004
|
NM_001267550.2(TTN):c.99310C>T (p.Arg33104Cys)
|
rs766169253
|
0.00004
|
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser)
|
rs397516450
|
0.00004
|
NM_001276345.2(TNNT2):c.403G>A (p.Asp135Asn)
|
rs765359025
|
0.00004
|
NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln)
|
rs745632066
|
0.00004
|
NM_001276345.2(TNNT2):c.601-7G>A
|
rs369759523
|
0.00004
|
NM_001276345.2(TNNT2):c.706G>A (p.Glu236Lys)
|
rs730881107
|
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.779T>C (p.Leu260Pro)
|
rs376037051
|
0.00004
|
NM_001276345.2(TNNT2):c.810+5G>A
|
rs730881113
|
0.00004
|
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys)
|
rs121908335
|
0.00004
|
NM_001458.5(FLNC):c.140A>G (p.Asn47Ser)
|
rs770861991
|
0.00004
|
NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg)
|
rs768103657
|
0.00004
|
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn)
|
rs201863231
|
0.00004
|
NM_001458.5(FLNC):c.547C>T (p.Arg183Cys)
|
rs369221655
|
0.00004
|
NM_001458.5(FLNC):c.925G>A (p.Glu309Lys)
|
rs781212262
|
0.00004
|
NM_001927.4(DES):c.1158C>T (p.Arg386=)
|
rs774323736
|
0.00004
|
NM_001943.5(DSG2):c.-1G>C
|
rs1012160082
|
0.00004
|
NM_001943.5(DSG2):c.1204G>A (p.Asp402Asn)
|
rs397516701
|
0.00004
|
NM_001943.5(DSG2):c.1837G>A (p.Ala613Thr)
|
rs368257724
|
0.00004
|
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser)
|
rs200804638
|
0.00004
|
NM_001943.5(DSG2):c.1920C>T (p.Gly640=)
|
rs775642244
|
0.00004
|
NM_001943.5(DSG2):c.208A>G (p.Ile70Val)
|
rs769713919
|
0.00004
|
NM_001943.5(DSG2):c.2328C>A (p.Phe776Leu)
|
rs771104668
|
0.00004
|
NM_001943.5(DSG2):c.2405A>G (p.Glu802Gly)
|
rs763315024
|
0.00004
|
NM_001943.5(DSG2):c.3167C>T (p.Thr1056Ile)
|
rs767538450
|
0.00004
|
NM_001943.5(DSG2):c.3293C>G (p.Ser1098Cys)
|
rs2848673
|
0.00004
|
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys)
|
rs786204291
|
0.00004
|
NM_002230.4(JUP):c.2105G>A (p.Arg702His)
|
rs200690479
|
0.00004
|
NM_002230.4(JUP):c.329C>T (p.Ala110Val)
|
rs782770278
|
0.00004
|
NM_002471.4(MYH6):c.2612G>A (p.Arg871His)
|
rs869025473
|
0.00004
|
NM_002471.4(MYH6):c.3569C>T (p.Thr1190Ile)
|
rs759117852
|
0.00004
|
NM_002667.5(PLN):c.145G>A (p.Val49Met)
|
rs749962743
|
0.00004
|
NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys)
|
rs201214593
|
0.00004
|
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys)
|
rs376198883
|
0.00004
|
NM_003673.4(TCAP):c.460C>T (p.Arg154Cys)
|
rs755539784
|
0.00004
|
NM_004415.4(DSP):c.1222A>C (p.Asn408His)
|
rs142129767
|
0.00004
|
NM_004415.4(DSP):c.137G>A (p.Gly46Asp)
|
rs140403872
|
0.00004
|
NM_004415.4(DSP):c.1418A>G (p.Gln473Arg)
|
rs746802503
|
0.00004
|
NM_004415.4(DSP):c.1469G>A (p.Arg490His)
|
rs747815091
|
0.00004
|
NM_004415.4(DSP):c.2308G>A (p.Val770Ile)
|
rs1225927424
|
0.00004
|
NM_004415.4(DSP):c.2622C>G (p.Ile874Met)
|
rs751067479
|
0.00004
|
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys)
|
rs367752002
|
0.00004
|
NM_004415.4(DSP):c.2735T>C (p.Leu912Ser)
|
rs765831604
|
0.00004
|
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln)
|
rs374263890
|
0.00004
|
NM_004415.4(DSP):c.3863A>G (p.Lys1288Arg)
|
rs746482538
|
0.00004
|
NM_004415.4(DSP):c.3904C>T (p.Arg1302Cys)
|
rs775594375
|
0.00004
|
NM_004415.4(DSP):c.4199G>A (p.Arg1400Gln)
|
rs748109826
|
0.00004
|
NM_004415.4(DSP):c.4490G>A (p.Arg1497Gln)
|
rs727505037
|
0.00004
|
NM_004415.4(DSP):c.4696C>G (p.Leu1566Val)
|
rs201785897
|
0.00004
|
NM_004415.4(DSP):c.4819G>A (p.Glu1607Lys)
|
rs750054075
|
0.00004
|
NM_004415.4(DSP):c.4915G>A (p.Val1639Met)
|
rs539587517
|
0.00004
|
NM_004415.4(DSP):c.4996C>T (p.Arg1666Trp)
|
rs758312365
|
0.00004
|
NM_004415.4(DSP):c.4997G>A (p.Arg1666Gln)
|
rs768577891
|
0.00004
|
NM_004415.4(DSP):c.5173C>T (p.Arg1725Trp)
|
rs200336897
|
0.00004
|
NM_004415.4(DSP):c.5194G>A (p.Asp1732Asn)
|
rs780224658
|
0.00004
|
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val)
|
rs749124581
|
0.00004
|
NM_004415.4(DSP):c.5522C>T (p.Ser1841Leu)
|
rs397516947
|
0.00004
|
NM_004415.4(DSP):c.5668A>G (p.Arg1890Gly)
|
rs762079110
|
0.00004
|
NM_004415.4(DSP):c.5795G>A (p.Arg1932His)
|
rs770522444
|
0.00004
|
NM_004415.4(DSP):c.596G>A (p.Arg199Lys)
|
rs143648545
|
0.00004
|
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr)
|
rs144539278
|
0.00004
|
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr)
|
rs371129517
|
0.00004
|
NM_004415.4(DSP):c.7970C>T (p.Thr2657Ile)
|
rs1478775642
|
0.00004
|
NM_004415.4(DSP):c.8084T>A (p.Phe2695Tyr)
|
rs764994940
|
0.00004
|
NM_004415.4(DSP):c.8117A>T (p.Lys2706Met)
|
rs537588390
|
0.00004
|
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys)
|
rs753033333
|
0.00004
|
NM_004415.4(DSP):c.8590T>C (p.Phe2864Leu)
|
rs764514210
|
0.00004
|
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met)
|
rs397517057
|
0.00004
|
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs)
|
rs730880387
|
0.00004
|
NM_005159.5(ACTC1):c.623G>A (p.Arg208His)
|
rs142839840
|
0.00004
|
NM_005477.3(HCN4):c.3262G>A (p.Ala1088Thr)
|
rs1050326641
|
0.00004
|
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn)
|
rs748399477
|
0.00004
|
NM_007078.3(LDB3):c.306G>A (p.Val102=)
|
rs201715521
|
0.00004
|
NM_007078.3(LDB3):c.530C>T (p.Ala177Val)
|
rs397517224
|
0.00004
|
NM_014000.3(VCL):c.1534C>T (p.Arg512Cys)
|
rs781079975
|
0.00004
|
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe)
|
rs565398652
|
0.00004
|
NM_014391.3(ANKRD1):c.838A>G (p.Ile280Val)
|
rs144770680
|
0.00004
|
NM_016203.4(PRKAG2):c.166G>A (p.Gly56Arg)
|
rs397517266
|
0.00004
|
NM_016203.4(PRKAG2):c.346C>T (p.Arg116Cys)
|
rs730880989
|
0.00004
|
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu)
|
rs876657963
|
0.00004
|
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)
|
rs145669999
|
0.00004
|
NM_016203.4(PRKAG2):c.617C>T (p.Pro206Leu)
|
rs182084936
|
0.00004
|
NM_020297.4(ABCC9):c.-11T>C
|
rs72559432
|
0.00004
|
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter)
|
rs778127887
|
0.00004
|
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu)
|
rs376514478
|
0.00004
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys)
|
rs201094625
|
0.00004
|
NM_024334.3(TMEM43):c.231C>G (p.Ile77Met)
|
rs899266809
|
0.00004
|
NM_024334.3(TMEM43):c.310C>G (p.Pro104Ala)
|
rs775872602
|
0.00004
|
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg)
|
rs397517384
|
0.00004
|
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter)
|
rs1423539317
|
0.00004
|
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter)
|
rs147336367
|
0.00004
|
NM_024334.3(TMEM43):c.518T>C (p.Met173Thr)
|
rs373023080
|
0.00004
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr)
|
rs777688726
|
0.00004
|
NM_024422.6(DSC2):c.2191G>A (p.Asp731Asn)
|
rs762055797
|
0.00004
|
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg)
|
rs139290300
|
0.00004
|
NM_024422.6(DSC2):c.2366G>A (p.Gly789Glu)
|
rs766828422
|
0.00004
|
NM_024422.6(DSC2):c.239A>G (p.Tyr80Cys)
|
rs369761766
|
0.00004
|
NM_024422.6(DSC2):c.2576A>G (p.Tyr859Cys)
|
rs758950880
|
0.00004
|
NM_024422.6(DSC2):c.2591C>T (p.Ser864Leu)
|
rs202031070
|
0.00004
|
NM_024422.6(DSC2):c.286A>G (p.Ile96Val)
|
rs772447450
|
0.00004
|
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr)
|
rs200218585
|
0.00004
|
NM_024422.6(DSC2):c.669A>G (p.Pro223=)
|
rs923697621
|
0.00004
|
NM_024422.6(DSC2):c.914C>T (p.Thr305Ile)
|
rs1270395120
|
0.00004
|
NM_033337.3(CAV3):c.384C>T (p.Phe128=)
|
rs773934743
|
0.00004
|
NM_144573.4(NEXN):c.818G>A (p.Arg273His)
|
rs765385072
|
0.00004
|
NM_144573.4(NEXN):c.967G>A (p.Glu323Lys)
|
rs1196365963
|
0.00004
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
NM_170707.4(LMNA):c.1196G>A (p.Arg399His)
|
rs267607563
|
0.00004
|
NM_170707.4(LMNA):c.1255C>T (p.Arg419Cys)
|
rs755686359
|
0.00004
|
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser)
|
rs372011095
|
0.00004
|
NM_170707.4(LMNA):c.1580G>A (p.Arg527His)
|
rs57520892
|
0.00004
|
NM_170707.4(LMNA):c.1664A>G (p.Asp555Gly)
|
rs141578711
|
0.00004
|
NM_170707.4(LMNA):c.1931G>A (p.Arg644His)
|
rs368386019
|
0.00004
|
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg)
|
rs397517901
|
0.00004
|
NM_170707.4(LMNA):c.467G>A (p.Arg156His)
|
rs764475194
|
0.00004
|
NM_170707.4(LMNA):c.692A>G (p.Asn231Ser)
|
rs760388350
|
0.00004
|
NM_170707.4(LMNA):c.848A>G (p.Asn283Ser)
|
rs765241364
|
0.00004
|
NM_000116.5(TAFAZZIN):c.371-6C>A
|
rs782195445
|
0.00003
|
NM_000116.5(TAFAZZIN):c.758G>A (p.Arg253Gln)
|
rs782653725
|
0.00003
|
NM_000169.3(GLA):c.601T>G (p.Ser201Ala)
|
rs782164447
|
0.00003
|
NM_000219.6(KCNE1):c.293G>A (p.Arg98Gln)
|
rs150454912
|
0.00003
|
NM_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser)
|
rs397515881
|
0.00003
|
NM_000256.3(MYBPC3):c.103C>T (p.Arg35Trp)
|
rs727504249
|
0.00003
|
NM_000256.3(MYBPC3):c.1072G>A (p.Asp358Asn)
|
rs746267533
|
0.00003
|
NM_000256.3(MYBPC3):c.121C>T (p.Arg41Cys)
|
rs373638535
|
0.00003
|
NM_000256.3(MYBPC3):c.1243A>C (p.Ile415Leu)
|
rs1269517446
|
0.00003
|
NM_000256.3(MYBPC3):c.1601C>T (p.Ala534Val)
|
rs374349666
|
0.00003
|
NM_000256.3(MYBPC3):c.1670G>A (p.Gly557Asp)
|
rs730880549
|
0.00003
|
NM_000256.3(MYBPC3):c.1816G>A (p.Val606Ile)
|
rs368482358
|
0.00003
|
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His)
|
rs371564200
|
0.00003
|
NM_000256.3(MYBPC3):c.2063C>A (p.Thr688Lys)
|
rs3729946
|
0.00003
|
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His)
|
rs534345197
|
0.00003
|
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)
|
rs375471260
|
0.00003
|
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met)
|
rs727503189
|
0.00003
|
NM_000256.3(MYBPC3):c.2562G>A (p.Met854Ile)
|
rs730880572
|
0.00003
|
NM_000256.3(MYBPC3):c.2599A>G (p.Ile867Val)
|
rs768339148
|
0.00003
|
NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys)
|
rs374976635
|
0.00003
|
NM_000256.3(MYBPC3):c.2828G>A (p.Arg943Gln)
|
rs397515986
|
0.00003
|
NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp)
|
rs730880138
|
0.00003
|
NM_000256.3(MYBPC3):c.2909G>A (p.Arg970Gln)
|
rs727504346
|
0.00003
|
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu)
|
rs730880610
|
0.00003
|
NM_000256.3(MYBPC3):c.3154A>G (p.Met1052Val)
|
rs730880589
|
0.00003
|
NM_000256.3(MYBPC3):c.3191-7C>T
|
rs373012629
|
0.00003
|
NM_000256.3(MYBPC3):c.3229G>T (p.Ala1077Ser)
|
rs397516009
|
0.00003
|
NM_000256.3(MYBPC3):c.3343G>A (p.Val1115Ile)
|
rs531189495
|
0.00003
|
NM_000256.3(MYBPC3):c.3470C>T (p.Pro1157Leu)
|
rs373304680
|
0.00003
|
NM_000256.3(MYBPC3):c.373G>T (p.Ala125Ser)
|
rs370958401
|
0.00003
|
NM_000256.3(MYBPC3):c.437C>T (p.Thr146Ile)
|
rs780458215
|
0.00003
|
NM_000256.3(MYBPC3):c.659A>G (p.Tyr220Cys)
|
rs779693951
|
0.00003
|
NM_000256.3(MYBPC3):c.667G>A (p.Glu223Lys)
|
rs397516069
|
0.00003
|
NM_000256.3(MYBPC3):c.67G>A (p.Ala23Thr)
|
rs758044508
|
0.00003
|
NM_000256.3(MYBPC3):c.758A>G (p.Asn253Ser)
|
rs727503214
|
0.00003
|
NM_000256.3(MYBPC3):c.841C>T (p.Arg281Trp)
|
rs371711564
|
0.00003
|
NM_000256.3(MYBPC3):c.88G>A (p.Glu30Lys)
|
rs761079937
|
0.00003
|
NM_000256.3(MYBPC3):c.927-10C>T
|
rs201078659
|
0.00003
|
NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys)
|
rs397516086
|
0.00003
|
NM_000257.4(MYH7):c.161G>A (p.Arg54Gln)
|
rs397516117
|
0.00003
|
NM_000257.4(MYH7):c.166G>A (p.Gly56Ser)
|
rs759500431
|
0.00003
|
NM_000257.4(MYH7):c.2599G>A (p.Glu867Lys)
|
rs558673680
|
0.00003
|
NM_000257.4(MYH7):c.3100-2A>C
|
rs759013925
|
0.00003
|
NM_000257.4(MYH7):c.3134G>A (p.Arg1045His)
|
rs397516178
|
0.00003
|
NM_000257.4(MYH7):c.3337-10G>A
|
rs397516181
|
0.00003
|
NM_000257.4(MYH7):c.3407G>T (p.Arg1136Leu)
|
rs730880905
|
0.00003
|
NM_000257.4(MYH7):c.3779G>A (p.Arg1260Gln)
|
rs747308839
|
0.00003
|
NM_000257.4(MYH7):c.4170-15C>A
|
rs370438666
|
0.00003
|
NM_000257.4(MYH7):c.4868A>G (p.Asn1623Ser)
|
rs1306407579
|
0.00003
|
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr)
|
rs565663412
|
0.00003
|
NM_000257.4(MYH7):c.49C>T (p.Arg17Cys)
|
rs45511396
|
0.00003
|
NM_000257.4(MYH7):c.5088G>C (p.Glu1696Asp)
|
rs373219734
|
0.00003
|
NM_000257.4(MYH7):c.5471A>G (p.Asn1824Ser)
|
rs760218400
|
0.00003
|
NM_000257.4(MYH7):c.5689C>T (p.Arg1897Cys)
|
rs756655803
|
0.00003
|
NM_000257.4(MYH7):c.611G>A (p.Arg204His)
|
rs397516260
|
0.00003
|
NM_000257.4(MYH7):c.639+5G>T
|
rs765724983
|
0.00003
|
NM_000257.4(MYH7):c.737A>G (p.Lys246Arg)
|
rs730880851
|
0.00003
|
NM_000258.3(MYL3):c.245C>T (p.Ala82Val)
|
rs752549068
|
0.00003
|
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys)
|
rs199473328
|
0.00003
|
NM_000363.5(TNNI3):c.-8G>A
|
rs773513015
|
0.00003
|
NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr)
|
rs374618872
|
0.00003
|
NM_000371.4(TTR):c.370C>T (p.Arg124Cys)
|
rs745834030
|
0.00003
|
NM_000371.4(TTR):c.431A>G (p.Asn144Ser)
|
rs144965179
|
0.00003
|
NM_000432.4(MYL2):c.49G>A (p.Val17Met)
|
rs730880943
|
0.00003
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
NM_001005242.3(PKP2):c.1035-11del
|
rs1393167652
|
0.00003
|
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys)
|
rs1208347768
|
0.00003
|
NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn)
|
rs763427502
|
0.00003
|
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val)
|
rs397517002
|
0.00003
|
NM_001005242.3(PKP2):c.1679C>T (p.Thr560Met)
|
rs373360192
|
0.00003
|
NM_001005242.3(PKP2):c.1945A>G (p.Ser649Gly)
|
rs375295635
|
0.00003
|
NM_001005242.3(PKP2):c.1968A>T (p.Glu656Asp)
|
rs879210282
|
0.00003
|
NM_001005242.3(PKP2):c.19C>T (p.Pro7Ser)
|
rs764645176
|
0.00003
|
NM_001005242.3(PKP2):c.223G>A (p.Gly75Arg)
|
rs765852160
|
0.00003
|
NM_001005242.3(PKP2):c.236G>A (p.Arg79Gln)
|
rs766802880
|
0.00003
|
NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg)
|
rs372729739
|
0.00003
|
NM_001005242.3(PKP2):c.259G>C (p.Val87Leu)
|
rs750028032
|
0.00003
|
NM_001035.3(RYR2):c.10709G>A (p.Arg3570Gln)
|
rs751520590
|
0.00003
|
NM_001035.3(RYR2):c.10876A>G (p.Lys3626Glu)
|
rs1343502629
|
0.00003
|
NM_001035.3(RYR2):c.1092A>C (p.Gln364His)
|
rs763183698
|
0.00003
|
NM_001035.3(RYR2):c.11497G>A (p.Asp3833Asn)
|
rs768711283
|
0.00003
|
NM_001035.3(RYR2):c.1154G>C (p.Gly385Ala)
|
rs373148638
|
0.00003
|
NM_001035.3(RYR2):c.1165C>T (p.Arg389Cys)
|
rs376135032
|
0.00003
|
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly)
|
rs374306538
|
0.00003
|
NM_001035.3(RYR2):c.1241G>A (p.Arg414His)
|
rs371121679
|
0.00003
|
NM_001035.3(RYR2):c.12658G>A (p.Glu4220Lys)
|
rs753433827
|
0.00003
|
NM_001035.3(RYR2):c.1304C>T (p.Ala435Val)
|
rs757313291
|
0.00003
|
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg)
|
rs753733164
|
0.00003
|
NM_001035.3(RYR2):c.1324G>T (p.Ala442Ser)
|
rs747344666
|
0.00003
|
NM_001035.3(RYR2):c.13666G>A (p.Ala4556Thr)
|
rs189345192
|
0.00003
|
NM_001035.3(RYR2):c.14167G>A (p.Ala4723Thr)
|
rs397516514
|
0.00003
|
NM_001035.3(RYR2):c.2617G>A (p.Val873Met)
|
rs369248015
|
0.00003
|
NM_001035.3(RYR2):c.2951G>A (p.Ser984Asn)
|
rs730880188
|
0.00003
|
NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg)
|
rs199682282
|
0.00003
|
NM_001035.3(RYR2):c.3423+6T>G
|
rs1057521957
|
0.00003
|
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu)
|
rs1019112544
|
0.00003
|
NM_001035.3(RYR2):c.3827C>T (p.Thr1276Ile)
|
rs762899950
|
0.00003
|
NM_001035.3(RYR2):c.4802A>G (p.Asn1601Ser)
|
rs1474971861
|
0.00003
|
NM_001035.3(RYR2):c.5011C>T (p.Arg1671Trp)
|
rs747404408
|
0.00003
|
NM_001035.3(RYR2):c.5021A>G (p.His1674Arg)
|
rs771414167
|
0.00003
|
NM_001035.3(RYR2):c.5066T>C (p.Ile1689Thr)
|
rs763907583
|
0.00003
|
NM_001035.3(RYR2):c.5278C>T (p.Arg1760Trp)
|
rs776550479
|
0.00003
|
NM_001035.3(RYR2):c.5570C>T (p.Pro1857Leu)
|
rs568198475
|
0.00003
|
NM_001035.3(RYR2):c.5761C>T (p.Arg1921Trp)
|
rs760010432
|
0.00003
|
NM_001035.3(RYR2):c.5762G>A (p.Arg1921Gln)
|
rs370568809
|
0.00003
|
NM_001035.3(RYR2):c.5774T>C (p.Ile1925Thr)
|
rs761505396
|
0.00003
|
NM_001035.3(RYR2):c.6232C>T (p.Pro2078Ser)
|
rs780993255
|
0.00003
|
NM_001035.3(RYR2):c.6772C>T (p.Arg2258Cys)
|
rs757350594
|
0.00003
|
NM_001035.3(RYR2):c.7354G>A (p.Val2452Met)
|
rs377136047
|
0.00003
|
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)
|
rs374191985
|
0.00003
|
NM_001035.3(RYR2):c.8041A>T (p.Met2681Leu)
|
rs768547151
|
0.00003
|
NM_001035.3(RYR2):c.8209-4T>C
|
rs371966353
|
0.00003
|
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His)
|
rs773748242
|
0.00003
|
NM_001035.3(RYR2):c.8936G>A (p.Arg2979His)
|
rs753179691
|
0.00003
|
NM_001035.3(RYR2):c.953A>G (p.Asp318Gly)
|
rs1268335647
|
0.00003
|
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg)
|
rs760379293
|
0.00003
|
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter)
|
rs765669597
|
0.00003
|
NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg)
|
rs376144003
|
0.00003
|
NM_001103.4(ACTN2):c.1180C>T (p.Arg394Trp)
|
rs559395092
|
0.00003
|
NM_001103.4(ACTN2):c.1287C>T (p.Tyr429=)
|
rs764881077
|
0.00003
|
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys)
|
rs145248415
|
0.00003
|
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe)
|
rs371930065
|
0.00003
|
NM_001105206.3(LAMA4):c.572G>A (p.Gly191Glu)
|
rs782010849
|
0.00003
|
NM_001105206.3(LAMA4):c.652G>A (p.Gly218Arg)
|
rs781829741
|
0.00003
|
NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser)
|
rs780673583
|
0.00003
|
NM_001267550.2(TTN):c.102094_102096dup (p.Tyr34032dup)
|
rs763311506
|
0.00003
|
NM_001267550.2(TTN):c.102790C>T (p.Leu34264Phe)
|
rs773984912
|
0.00003
|
NM_001267550.2(TTN):c.103364G>A (p.Arg34455His)
|
rs756023873
|
0.00003
|
NM_001267550.2(TTN):c.103946G>A (p.Arg34649Gln)
|
rs397517788
|
0.00003
|
NM_001267550.2(TTN):c.106439A>G (p.His35480Arg)
|
rs766337455
|
0.00003
|
NM_001267550.2(TTN):c.106662G>A (p.Glu35554=)
|
rs753862749
|
0.00003
|
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu)
|
rs766440492
|
0.00003
|
NM_001267550.2(TTN):c.11756C>A (p.Thr3919Asn)
|
rs727503661
|
0.00003
|
NM_001267550.2(TTN):c.19118A>G (p.Glu6373Gly)
|
rs367868361
|
0.00003
|
NM_001267550.2(TTN):c.23308G>A (p.Gly7770Arg)
|
rs374739582
|
0.00003
|
NM_001267550.2(TTN):c.24905C>A (p.Thr8302Lys)
|
rs549604128
|
0.00003
|
NM_001267550.2(TTN):c.25646C>A (p.Pro8549His)
|
rs774351461
|
0.00003
|
NM_001267550.2(TTN):c.26464G>A (p.Ala8822Thr)
|
rs184883436
|
0.00003
|
NM_001267550.2(TTN):c.29638G>A (p.Glu9880Lys)
|
rs532933900
|
0.00003
|
NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val)
|
rs752903377
|
0.00003
|
NM_001267550.2(TTN):c.3847A>G (p.Ile1283Val)
|
rs1391955404
|
0.00003
|
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp)
|
rs199889888
|
0.00003
|
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys)
|
rs397517577
|
0.00003
|
NM_001267550.2(TTN):c.46984C>T (p.Arg15662Cys)
|
rs762723635
|
0.00003
|
NM_001267550.2(TTN):c.48118C>T (p.Arg16040Cys)
|
rs774736458
|
0.00003
|
NM_001267550.2(TTN):c.50254C>G (p.Pro16752Ala)
|
rs938347047
|
0.00003
|
NM_001267550.2(TTN):c.50797G>A (p.Ala16933Thr)
|
rs794729452
|
0.00003
|
NM_001267550.2(TTN):c.58601G>A (p.Ser19534Asn)
|
rs563833549
|
0.00003
|
NM_001267550.2(TTN):c.64048G>A (p.Val21350Ile)
|
rs772377673
|
0.00003
|
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu)
|
rs145649088
|
0.00003
|
NM_001267550.2(TTN):c.75734G>A (p.Arg25245Lys)
|
rs397517701
|
0.00003
|
NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val)
|
rs749194310
|
0.00003
|
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr)
|
rs374022393
|
0.00003
|
NM_001267550.2(TTN):c.86078C>G (p.Ser28693Cys)
|
rs893693576
|
0.00003
|
NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu)
|
rs754207859
|
0.00003
|
NM_001267550.2(TTN):c.89753T>C (p.Val29918Ala)
|
rs768749427
|
0.00003
|
NM_001267550.2(TTN):c.93674T>C (p.Ile31225Thr)
|
rs727505175
|
0.00003
|
NM_001267550.2(TTN):c.98591T>C (p.Val32864Ala)
|
rs201257063
|
0.00003
|
NM_001276345.2(TNNT2):c.*3C>A
|
rs529731863
|
0.00003
|
NM_001276345.2(TNNT2):c.103G>A (p.Glu35Lys)
|
rs867180029
|
0.00003
|
NM_001276345.2(TNNT2):c.411+6T>A
|
rs761043932
|
0.00003
|
NM_001276345.2(TNNT2):c.436G>A (p.Glu146Lys)
|
rs371142225
|
0.00003
|
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp)
|
rs483352832
|
0.00003
|
NM_001276345.2(TNNT2):c.609+3G>A
|
rs997358710
|
0.00003
|
NM_001276345.2(TNNT2):c.617G>A (p.Arg206Gln)
|
rs371047521
|
0.00003
|
NM_001276345.2(TNNT2):c.691A>G (p.Ile231Val)
|
rs886045828
|
0.00003
|
NM_001276345.2(TNNT2):c.883G>A (p.Gly295Arg)
|
rs147940106
|
0.00003
|
NM_001330.5(CTF1):c.466G>A (p.Ala156Thr)
|
rs936775298
|
0.00003
|
NM_001458.5(FLNC):c.3376C>G (p.Pro1126Ala)
|
rs748785077
|
0.00003
|
NM_001458.5(FLNC):c.4420C>T (p.Arg1474Trp)
|
rs372454458
|
0.00003
|
NM_001458.5(FLNC):c.4970G>A (p.Arg1657Gln)
|
rs374294752
|
0.00003
|
NM_001458.5(FLNC):c.5540-6C>G
|
rs201335006
|
0.00003
|
NM_001943.5(DSG2):c.122A>T (p.His41Leu)
|
rs777373864
|
0.00003
|
NM_001943.5(DSG2):c.1418C>T (p.Ser473Leu)
|
rs774607590
|
0.00003
|
NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala)
|
rs193298428
|
0.00003
|
NM_001943.5(DSG2):c.1642C>T (p.Arg548Cys)
|
rs550400909
|
0.00003
|
NM_001943.5(DSG2):c.1792G>A (p.Gly598Ser)
|
rs773666300
|
0.00003
|
NM_001943.5(DSG2):c.2079A>C (p.Glu693Asp)
|
rs375595872
|
0.00003
|
NM_001943.5(DSG2):c.216+3A>C
|
rs774208829
|
0.00003
|
NM_001943.5(DSG2):c.2162A>G (p.His721Arg)
|
rs756912703
|
0.00003
|
NM_001943.5(DSG2):c.2468A>G (p.Asp823Gly)
|
rs777642924
|
0.00003
|
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp)
|
rs756338201
|
0.00003
|
NM_001943.5(DSG2):c.2638A>C (p.Asn880His)
|
rs745617885
|
0.00003
|
NM_001943.5(DSG2):c.2880C>G (p.Ser960Arg)
|
rs374807974
|
0.00003
|
NM_001943.5(DSG2):c.2960T>C (p.Val987Ala)
|
rs727502991
|
0.00003
|
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter)
|
rs539821357
|
0.00003
|
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile)
|
rs200830807
|
0.00003
|
NM_002294.3(LAMP2):c.519A>G (p.Val173=)
|
rs1060504543
|
0.00003
|
NM_002667.5(PLN):c.53T>C (p.Ile18Thr)
|
rs1029766634
|
0.00003
|
NM_003476.5(CSRP3):c.191G>A (p.Arg64His)
|
rs375014380
|
0.00003
|
NM_003476.5(CSRP3):c.568G>T (p.Val190Leu)
|
rs145073736
|
0.00003
|
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr)
|
rs141163578
|
0.00003
|
NM_004415.4(DSP):c.1267-14A>T
|
rs374439921
|
0.00003
|
NM_004415.4(DSP):c.1324T>G (p.Ser442Ala)
|
rs755492444
|
0.00003
|
NM_004415.4(DSP):c.1487C>T (p.Thr496Met)
|
rs374283517
|
0.00003
|
NM_004415.4(DSP):c.1501G>A (p.Val501Ile)
|
rs368778031
|
0.00003
|
NM_004415.4(DSP):c.1630A>C (p.Met544Leu)
|
rs201960323
|
0.00003
|
NM_004415.4(DSP):c.1840G>A (p.Asp614Asn)
|
rs764951792
|
0.00003
|
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys)
|
rs775181391
|
0.00003
|
NM_004415.4(DSP):c.2345A>G (p.Asp782Gly)
|
rs557966264
|
0.00003
|
NM_004415.4(DSP):c.2540C>T (p.Pro847Leu)
|
rs727504657
|
0.00003
|
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys)
|
rs778636665
|
0.00003
|
NM_004415.4(DSP):c.2720G>A (p.Arg907His)
|
rs774665110
|
0.00003
|
NM_004415.4(DSP):c.3153C>A (p.Asn1051Lys)
|
rs563387839
|
0.00003
|
NM_004415.4(DSP):c.344A>G (p.Asn115Ser)
|
rs28763958
|
0.00003
|
NM_004415.4(DSP):c.3551G>A (p.Arg1184Gln)
|
rs147909031
|
0.00003
|
NM_004415.4(DSP):c.3760G>A (p.Val1254Ile)
|
rs778448699
|
0.00003
|
NM_004415.4(DSP):c.4019G>A (p.Arg1340His)
|
rs765247380
|
0.00003
|
NM_004415.4(DSP):c.4081A>C (p.Ser1361Arg)
|
rs747326519
|
0.00003
|
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile)
|
rs948230523
|
0.00003
|
NM_004415.4(DSP):c.4492A>G (p.Lys1498Glu)
|
rs794728122
|
0.00003
|
NM_004415.4(DSP):c.4573A>G (p.Ile1525Val)
|
rs145796901
|
0.00003
|
NM_004415.4(DSP):c.484C>T (p.Arg162Cys)
|
rs760711308
|
0.00003
|
NM_004415.4(DSP):c.485G>T (p.Arg162Leu)
|
rs397516944
|
0.00003
|
NM_004415.4(DSP):c.5019A>T (p.Glu1673Asp)
|
rs773113214
|
0.00003
|
NM_004415.4(DSP):c.5414G>A (p.Cys1805Tyr)
|
rs768161038
|
0.00003
|
NM_004415.4(DSP):c.55C>A (p.Arg19Ser)
|
rs777340009
|
0.00003
|
NM_004415.4(DSP):c.578G>T (p.Gly193Val)
|
rs750350474
|
0.00003
|
NM_004415.4(DSP):c.5827A>G (p.Arg1943Gly)
|
rs140663822
|
0.00003
|
NM_004415.4(DSP):c.5899G>A (p.Val1967Met)
|
rs397516949
|
0.00003
|
NM_004415.4(DSP):c.6062C>G (p.Ala2021Gly)
|
rs760673242
|
0.00003
|
NM_004415.4(DSP):c.6248G>A (p.Arg2083His)
|
rs574637009
|
0.00003
|
NM_004415.4(DSP):c.6368G>A (p.Arg2123His)
|
rs142272846
|
0.00003
|
NM_004415.4(DSP):c.6416A>G (p.Asn2139Ser)
|
rs765687440
|
0.00003
|
NM_004415.4(DSP):c.665G>A (p.Arg222Gln)
|
rs377749481
|
0.00003
|
NM_004415.4(DSP):c.6935T>C (p.Val2312Ala)
|
rs886061748
|
0.00003
|
NM_004415.4(DSP):c.7039A>G (p.Ile2347Val)
|
rs768837509
|
0.00003
|
NM_004415.4(DSP):c.7075A>G (p.Ile2359Val)
|
rs774087560
|
0.00003
|
NM_004415.4(DSP):c.7123G>A (p.Gly2375Arg)
|
rs376923069
|
0.00003
|
NM_004415.4(DSP):c.7826T>C (p.Phe2609Ser)
|
rs397516959
|
0.00003
|
NM_004415.4(DSP):c.7915C>T (p.Arg2639Trp)
|
rs771553674
|
0.00003
|
NM_004415.4(DSP):c.8030A>G (p.Gln2677Arg)
|
rs749806703
|
0.00003
|
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly)
|
rs760215987
|
0.00003
|
NM_004415.4(DSP):c.860A>G (p.Asn287Ser)
|
rs138872423
|
0.00003
|
NM_007078.3(LDB3):c.1165G>A (p.Ala389Thr)
|
rs924634578
|
0.00003
|
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu)
|
rs200239096
|
0.00003
|
NM_014000.3(VCL):c.1039C>T (p.Pro347Ser)
|
rs566961713
|
0.00003
|
NM_014000.3(VCL):c.2875A>C (p.Asn959His)
|
rs758969419
|
0.00003
|
NM_014000.3(VCL):c.3267G>C (p.Glu1089Asp)
|
rs149300310
|
0.00003
|
NM_014391.3(ANKRD1):c.154C>G (p.Pro52Ala)
|
rs397517248
|
0.00003
|
NM_014391.3(ANKRD1):c.388G>T (p.Glu130Ter)
|
rs1048316962
|
0.00003
|
NM_016203.4(PRKAG2):c.*2C>T
|
rs199559205
|
0.00003
|
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=)
|
rs767902787
|
0.00003
|
NM_016203.4(PRKAG2):c.1234-6G>A
|
rs780341115
|
0.00003
|
NM_016203.4(PRKAG2):c.1584+8G>A
|
rs762649633
|
0.00003
|
NM_016203.4(PRKAG2):c.361A>G (p.Met121Val)
|
rs760511236
|
0.00003
|
NM_016203.4(PRKAG2):c.554A>T (p.Glu185Val)
|
rs397517274
|
0.00003
|
NM_016599.5(MYOZ2):c.376+9T>A
|
rs536009604
|
0.00003
|
NM_020297.4(ABCC9):c.2932C>A (p.Pro978Thr)
|
rs376874273
|
0.00003
|
NM_020297.4(ABCC9):c.3594G>A (p.Met1198Ile)
|
rs199900459
|
0.00003
|
NM_024334.3(TMEM43):c.-2C>T
|
rs754747623
|
0.00003
|
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys)
|
rs752269639
|
0.00003
|
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)
|
rs773224617
|
0.00003
|
NM_024334.3(TMEM43):c.644A>C (p.His215Pro)
|
rs730880225
|
0.00003
|
NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys)
|
rs182464375
|
0.00003
|
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)
|
rs139842014
|
0.00003
|
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)
|
rs757651177
|
0.00003
|
NM_024334.3(TMEM43):c.980C>G (p.Thr327Arg)
|
rs368111230
|
0.00003
|
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
|
rs368299411
|
0.00003
|
NM_024422.6(DSC2):c.1019C>A (p.Thr340Asn)
|
rs757065157
|
0.00003
|
NM_024422.6(DSC2):c.1048G>T (p.Asp350Tyr)
|
rs766413086
|
0.00003
|
NM_024422.6(DSC2):c.115G>A (p.Val39Ile)
|
rs1447651355
|
0.00003
|
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr)
|
rs373324195
|
0.00003
|
NM_024422.6(DSC2):c.1814G>A (p.Gly605Asp)
|
rs1342808624
|
0.00003
|
NM_024422.6(DSC2):c.2020G>A (p.Glu674Lys)
|
rs1483383737
|
0.00003
|
NM_024422.6(DSC2):c.2036A>G (p.His679Arg)
|
rs145710244
|
0.00003
|
NM_024422.6(DSC2):c.2059G>A (p.Gly687Ser)
|
rs199616533
|
0.00003
|
NM_024422.6(DSC2):c.2126G>A (p.Cys709Tyr)
|
rs145831682
|
0.00003
|
NM_024422.6(DSC2):c.321G>T (p.Lys107Asn)
|
rs140856220
|
0.00003
|
NM_024422.6(DSC2):c.395G>A (p.Arg132His)
|
rs375410133
|
0.00003
|
NM_024422.6(DSC2):c.595C>T (p.Arg199Cys)
|
rs769787593
|
0.00003
|
NM_024422.6(DSC2):c.601G>A (p.Val201Ile)
|
rs202058544
|
0.00003
|
NM_024422.6(DSC2):c.619G>C (p.Glu207Gln)
|
rs200634448
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_033118.4(MYLK2):c.-3C>T
|
rs1452504056
|
0.00003
|
NM_033118.4(MYLK2):c.1626C>A (p.Asn542Lys)
|
rs368444888
|
0.00003
|
NM_033118.4(MYLK2):c.1694T>C (p.Met565Thr)
|
rs727503306
|
0.00003
|
NM_033337.3(CAV3):c.100G>A (p.Glu34Lys)
|
rs199476325
|
0.00003
|
NM_144573.4(NEXN):c.1053+1G>A
|
rs397517843
|
0.00003
|
NM_144573.4(NEXN):c.1894G>C (p.Glu632Gln)
|
rs370965740
|
0.00003
|
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn)
|
rs370656306
|
0.00003
|
NM_170707.4(LMNA):c.1028G>A (p.Arg343Gln)
|
rs61177390
|
0.00003
|
NM_170707.4(LMNA):c.1324G>A (p.Val442Met)
|
rs368542816
|
0.00003
|
NM_170707.4(LMNA):c.1517A>C (p.His506Pro)
|
rs878855233
|
0.00003
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met)
|
rs727503208
|
0.00002
|
NM_000256.3(MYBPC3):c.1291G>A (p.Asp431Asn)
|
rs753321277
|
0.00002
|
NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg)
|
rs775837337
|
0.00002
|
NM_000256.3(MYBPC3):c.1351+4G>A
|
rs777487971
|
0.00002
|
NM_000256.3(MYBPC3):c.1458-6G>A
|
rs375347534
|
0.00002
|
NM_000256.3(MYBPC3):c.1814A>G (p.Asp605Gly)
|
rs372371774
|
0.00002
|
NM_000256.3(MYBPC3):c.1889A>T (p.His630Leu)
|
rs745859544
|
0.00002
|
NM_000256.3(MYBPC3):c.1960C>T (p.Arg654Cys)
|
rs397515939
|
0.00002
|
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)
|
rs727503191
|
0.00002
|
NM_000256.3(MYBPC3):c.2171G>A (p.Arg724Gln)
|
rs756102881
|
0.00002
|
NM_000256.3(MYBPC3):c.2275G>A (p.Glu759Lys)
|
rs750810342
|
0.00002
|
NM_000256.3(MYBPC3):c.2500C>T (p.Arg834Trp)
|
rs752007810
|
0.00002
|
NM_000256.3(MYBPC3):c.251G>A (p.Gly84Asp)
|
rs569824900
|
0.00002
|
NM_000256.3(MYBPC3):c.2534G>A (p.Arg845His)
|
rs730880568
|
0.00002
|
NM_000256.3(MYBPC3):c.2654C>T (p.Thr885Met)
|
rs397515981
|
0.00002
|
NM_000256.3(MYBPC3):c.2682G>T (p.Glu894Asp)
|
rs369289966
|
0.00002
|
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=)
|
rs727503181
|
0.00002
|
NM_000256.3(MYBPC3):c.2968C>A (p.Pro990Thr)
|
rs776100156
|
0.00002
|
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys)
|
rs397515999
|
0.00002
|
NM_000256.3(MYBPC3):c.3072C>A (p.Ser1024Arg)
|
rs767605155
|
0.00002
|
NM_000256.3(MYBPC3):c.3097C>T (p.Arg1033Trp)
|
rs748909815
|
0.00002
|
NM_000256.3(MYBPC3):c.3103G>A (p.Ala1035Thr)
|
rs552505566
|
0.00002
|
NM_000256.3(MYBPC3):c.3143G>A (p.Arg1048His)
|
rs769018051
|
0.00002
|
NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met)
|
rs754115924
|
0.00002
|
NM_000256.3(MYBPC3):c.3361C>T (p.Arg1121Cys)
|
rs747738308
|
0.00002
|
NM_000256.3(MYBPC3):c.3658G>A (p.Asp1220Asn)
|
rs1198000256
|
0.00002
|
NM_000256.3(MYBPC3):c.3683G>A (p.Arg1228His)
|
rs528940575
|
0.00002
|
NM_000256.3(MYBPC3):c.439C>T (p.Pro147Ser)
|
rs1204042102
|
0.00002
|
NM_000256.3(MYBPC3):c.49C>T (p.Arg17Trp)
|
rs747857800
|
0.00002
|
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)
|
rs397516063
|
0.00002
|
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn)
|
rs369300885
|
0.00002
|
NM_000256.3(MYBPC3):c.712C>T (p.Arg238Cys)
|
rs771143409
|
0.00002
|
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His)
|
rs727504396
|
0.00002
|
NM_000256.3(MYBPC3):c.75C>T (p.Ser25=)
|
rs1368122828
|
0.00002
|
NM_000256.3(MYBPC3):c.815G>A (p.Arg272His)
|
rs759515993
|
0.00002
|
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His)
|
rs376461745
|
0.00002
|
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr)
|
rs121913640
|
0.00002
|
NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu)
|
rs730880158
|
0.00002
|
NM_000257.4(MYH7):c.11C>T (p.Ser4Leu)
|
rs758659692
|
0.00002
|
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val)
|
rs752349938
|
0.00002
|
NM_000257.4(MYH7):c.1384A>T (p.Ile462Phe)
|
rs397516105
|
0.00002
|
NM_000257.4(MYH7):c.1519G>A (p.Glu507Lys)
|
rs558212108
|
0.00002
|
NM_000257.4(MYH7):c.154G>A (p.Val52Met)
|
rs730880919
|
0.00002
|
NM_000257.4(MYH7):c.1856C>T (p.Thr619Ile)
|
rs541143322
|
0.00002
|
NM_000257.4(MYH7):c.1913C>T (p.Ala638Val)
|
rs369935820
|
0.00002
|
NM_000257.4(MYH7):c.2420G>A (p.Arg807His)
|
rs141414377
|
0.00002
|
NM_000257.4(MYH7):c.29G>C (p.Gly10Ala)
|
rs730880826
|
0.00002
|
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp)
|
rs779973529
|
0.00002
|
NM_000257.4(MYH7):c.3037G>A (p.Glu1013Lys)
|
rs730880764
|
0.00002
|
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn)
|
rs755392435
|
0.00002
|
NM_000257.4(MYH7):c.3236G>A (p.Arg1079Gln)
|
rs727504342
|
0.00002
|
NM_000257.4(MYH7):c.3301G>A (p.Gly1101Ser)
|
rs367546859
|
0.00002
|
NM_000257.4(MYH7):c.3475G>A (p.Val1159Met)
|
rs730880776
|
0.00002
|
NM_000257.4(MYH7):c.3479A>G (p.Gln1160Arg)
|
rs1376667533
|
0.00002
|
NM_000257.4(MYH7):c.3803G>A (p.Arg1268His)
|
rs397516194
|
0.00002
|
NM_000257.4(MYH7):c.3853+1G>A
|
rs202031879
|
0.00002
|
NM_000257.4(MYH7):c.3854-5C>T
|
rs752385694
|
0.00002
|
NM_000257.4(MYH7):c.3997C>G (p.Leu1333Val)
|
rs940589674
|
0.00002
|
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln)
|
rs797045097
|
0.00002
|
NM_000257.4(MYH7):c.4052C>T (p.Thr1351Met)
|
rs370403289
|
0.00002
|
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His)
|
rs750836033
|
0.00002
|
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile)
|
rs373231077
|
0.00002
|
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln)
|
rs121913647
|
0.00002
|
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=)
|
rs150552664
|
0.00002
|
NM_000257.4(MYH7):c.4558G>A (p.Gly1520Arg)
|
rs763683589
|
0.00002
|
NM_000257.4(MYH7):c.4687C>G (p.Leu1563Val)
|
rs376843222
|
0.00002
|
NM_000257.4(MYH7):c.4762C>T (p.Arg1588Cys)
|
rs1194197356
|
0.00002
|
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser)
|
rs730880913
|
0.00002
|
NM_000257.4(MYH7):c.4916C>T (p.Ala1639Val)
|
rs1195157116
|
0.00002
|
NM_000257.4(MYH7):c.4996G>A (p.Asp1666Asn)
|
rs747993770
|
0.00002
|
NM_000257.4(MYH7):c.5020G>A (p.Val1674Met)
|
rs397516235
|
0.00002
|
NM_000257.4(MYH7):c.5090G>A (p.Arg1697Gln)
|
rs766831916
|
0.00002
|
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)
|
rs369940645
|
0.00002
|
NM_000257.4(MYH7):c.5485G>A (p.Glu1829Lys)
|
rs143562243
|
0.00002
|
NM_000257.4(MYH7):c.5537G>A (p.Arg1846His)
|
rs757803046
|
0.00002
|
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met)
|
rs372381770
|
0.00002
|
NM_000257.4(MYH7):c.5800G>A (p.Glu1934Lys)
|
rs730880825
|
0.00002
|
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu)
|
rs727503277
|
0.00002
|
NM_000257.4(MYH7):c.733-3C>T
|
rs765068619
|
0.00002
|
NM_000257.4(MYH7):c.910A>T (p.Thr304Ser)
|
rs730880858
|
0.00002
|
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn)
|
rs730880923
|
0.00002
|
NM_000258.3(MYL3):c.*6G>A
|
rs754568155
|
0.00002
|
NM_000258.3(MYL3):c.136T>C (p.Phe46Leu)
|
rs730880953
|
0.00002
|
NM_000258.3(MYL3):c.140C>T (p.Thr47Ile)
|
rs778515428
|
0.00002
|
NM_000258.3(MYL3):c.152T>C (p.Ile51Thr)
|
rs749017586
|
0.00002
|
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys)
|
rs565312070
|
0.00002
|
NM_000258.3(MYL3):c.280C>T (p.Arg94Cys)
|
rs730880961
|
0.00002
|
NM_000258.3(MYL3):c.461G>A (p.Arg154His)
|
rs104893749
|
0.00002
|
NM_000258.3(MYL3):c.530A>G (p.Glu177Gly)
|
rs193922391
|
0.00002
|
NM_000258.3(MYL3):c.61C>T (p.Pro21Ser)
|
rs779557153
|
0.00002
|
NM_000335.5(SCN5A):c.1588T>G (p.Phe530Val)
|
rs199473120
|
0.00002
|
NM_000335.5(SCN5A):c.5326G>A (p.Val1776Met)
|
rs199473314
|
0.00002
|
NM_000363.5(TNNI3):c.143A>C (p.Gln48Pro)
|
rs200720341
|
0.00002
|
NM_000363.5(TNNI3):c.151-6C>G
|
rs377258542
|
0.00002
|
NM_000363.5(TNNI3):c.347C>G (p.Ala116Gly)
|
rs777177571
|
0.00002
|
NM_000363.5(TNNI3):c.439G>C (p.Val147Leu)
|
rs777782551
|
0.00002
|
NM_000363.5(TNNI3):c.92C>T (p.Thr31Met)
|
rs201928445
|
0.00002
|
NM_000432.4(MYL2):c.184A>T (p.Lys62Ter)
|
rs201728041
|
0.00002
|
NM_000432.4(MYL2):c.256T>C (p.Phe86Leu)
|
rs765287559
|
0.00002
|
NM_000432.4(MYL2):c.355G>A (p.Val119Ile)
|
rs730880940
|
0.00002
|
NM_000432.4(MYL2):c.430C>G (p.Pro144Ala)
|
rs777689913
|
0.00002
|
NM_000432.4(MYL2):c.436G>A (p.Val146Met)
|
rs370075755
|
0.00002
|
NM_001005242.3(PKP2):c.-7C>T
|
rs959129403
|
0.00002
|
NM_001005242.3(PKP2):c.1045A>G (p.Met349Val)
|
rs199957846
|
0.00002
|
NM_001005242.3(PKP2):c.1127T>C (p.Phe376Ser)
|
rs56869013
|
0.00002
|
NM_001005242.3(PKP2):c.1144T>C (p.Phe382Leu)
|
rs753839199
|
0.00002
|
NM_001005242.3(PKP2):c.1183C>T (p.Arg395Cys)
|
rs761238380
|
0.00002
|
NM_001005242.3(PKP2):c.1322G>A (p.Arg441Gln)
|
rs753912985
|
0.00002
|
NM_001005242.3(PKP2):c.1379-1972G>A
|
rs779392697
|
0.00002
|
NM_001005242.3(PKP2):c.1379-2012C>T
|
rs760461056
|
0.00002
|
NM_001005242.3(PKP2):c.1483C>G (p.Pro495Ala)
|
rs543325231
|
0.00002
|
NM_001005242.3(PKP2):c.1510G>T (p.Gly504Cys)
|
rs374641292
|
0.00002
|
NM_001005242.3(PKP2):c.155A>G (p.Lys52Arg)
|
rs549598534
|
0.00002
|
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu)
|
rs866789949
|
0.00002
|
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=)
|
rs368325383
|
0.00002
|
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser)
|
rs143323961
|
0.00002
|
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg)
|
rs776915959
|
0.00002
|
NM_001005242.3(PKP2):c.1952G>A (p.Arg651His)
|
rs758813231
|
0.00002
|
NM_001005242.3(PKP2):c.2068A>G (p.Thr690Ala)
|
rs867374780
|
0.00002
|
NM_001005242.3(PKP2):c.2140C>T (p.Arg714Trp)
|
rs537046857
|
0.00002
|
NM_001005242.3(PKP2):c.2234T>C (p.Ile745Thr)
|
rs543233804
|
0.00002
|
NM_001005242.3(PKP2):c.2404T>G (p.Ser802Ala)
|
rs1183143350
|
0.00002
|
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met)
|
rs146118033
|
0.00002
|
NM_001005242.3(PKP2):c.2483C>T (p.Thr828Ile)
|
rs370599966
|
0.00002
|
NM_001005242.3(PKP2):c.288T>G (p.Asp96Glu)
|
rs762825735
|
0.00002
|
NM_001005242.3(PKP2):c.382G>A (p.Ala128Thr)
|
rs1193697338
|
0.00002
|
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr)
|
rs727503373
|
0.00002
|
NM_001005242.3(PKP2):c.587G>A (p.Arg196His)
|
rs146566525
|
0.00002
|
NM_001005242.3(PKP2):c.602G>A (p.Gly201Glu)
|
rs757316313
|
0.00002
|
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu)
|
rs746530389
|
0.00002
|
NM_001005242.3(PKP2):c.818C>T (p.Pro273Leu)
|
rs878943755
|
0.00002
|
NM_001005242.3(PKP2):c.976G>A (p.Ala326Thr)
|
rs148480056
|
0.00002
|
NM_001018004.2(TPM1):c.773-1218del
|
rs1249033660
|
0.00002
|
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)
|
rs730881151
|
0.00002
|
NM_001035.3(RYR2):c.10258G>A (p.Val3420Ile)
|
rs397516497
|
0.00002
|
NM_001035.3(RYR2):c.10360C>T (p.Arg3454Cys)
|
rs773252606
|
0.00002
|
NM_001035.3(RYR2):c.10373G>A (p.Arg3458Gln)
|
rs762944627
|
0.00002
|
NM_001035.3(RYR2):c.10444G>A (p.Ala3482Thr)
|
rs757656504
|
0.00002
|
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln)
|
rs748805290
|
0.00002
|
NM_001035.3(RYR2):c.10557G>T (p.Leu3519Phe)
|
rs558910032
|
0.00002
|
NM_001035.3(RYR2):c.10708C>T (p.Arg3570Trp)
|
rs765835441
|
0.00002
|
NM_001035.3(RYR2):c.11090A>G (p.Lys3697Arg)
|
rs754610757
|
0.00002
|
NM_001035.3(RYR2):c.1166G>A (p.Arg389His)
|
rs200685968
|
0.00002
|
NM_001035.3(RYR2):c.12091A>G (p.Thr4031Ala)
|
rs755148895
|
0.00002
|
NM_001035.3(RYR2):c.12092C>A (p.Thr4031Asn)
|
rs781478740
|
0.00002
|
NM_001035.3(RYR2):c.1217C>T (p.Ser406Leu)
|
rs759830423
|
0.00002
|
NM_001035.3(RYR2):c.12215C>T (p.Thr4072Met)
|
rs928224285
|
0.00002
|
NM_001035.3(RYR2):c.12331A>C (p.Asn4111His)
|
rs192890834
|
0.00002
|
NM_001035.3(RYR2):c.12674G>A (p.Arg4225Lys)
|
rs1223110750
|
0.00002
|
NM_001035.3(RYR2):c.12865A>G (p.Ser4289Gly)
|
rs1386632671
|
0.00002
|
NM_001035.3(RYR2):c.13213C>T (p.Leu4405Phe)
|
rs568257273
|
0.00002
|
NM_001035.3(RYR2):c.1354G>A (p.Val452Ile)
|
rs375218751
|
0.00002
|
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met)
|
rs200803276
|
0.00002
|
NM_001035.3(RYR2):c.14434-14T>A
|
rs1490862924
|
0.00002
|
NM_001035.3(RYR2):c.1614G>A (p.Ala538=)
|
rs566885717
|
0.00002
|
NM_001035.3(RYR2):c.1675A>G (p.Ile559Val)
|
rs773609522
|
0.00002
|
NM_001035.3(RYR2):c.1707A>G (p.Ser569=)
|
rs757215216
|
0.00002
|
NM_001035.3(RYR2):c.1940G>A (p.Arg647His)
|
rs766330093
|
0.00002
|
NM_001035.3(RYR2):c.2251A>G (p.Thr751Ala)
|
rs878854154
|
0.00002
|
NM_001035.3(RYR2):c.2374G>A (p.Val792Ile)
|
rs764485892
|
0.00002
|
NM_001035.3(RYR2):c.2459C>G (p.Ala820Gly)
|
rs748492817
|
0.00002
|
NM_001035.3(RYR2):c.2506C>A (p.His836Asn)
|
rs760544949
|
0.00002
|
NM_001035.3(RYR2):c.2909A>G (p.Tyr970Cys)
|
rs753510394
|
0.00002
|
NM_001035.3(RYR2):c.3163C>T (p.Arg1055Cys)
|
rs754181384
|
0.00002
|
NM_001035.3(RYR2):c.322G>A (p.Gly108Ser)
|
rs1431073529
|
0.00002
|
NM_001035.3(RYR2):c.3484G>A (p.Val1162Met)
|
rs377030538
|
0.00002
|
NM_001035.3(RYR2):c.364C>T (p.Arg122Cys)
|
rs397516527
|
0.00002
|
NM_001035.3(RYR2):c.36G>C (p.Gln12His)
|
rs746811389
|
0.00002
|
NM_001035.3(RYR2):c.4161-5T>C
|
rs1416816823
|
0.00002
|
NM_001035.3(RYR2):c.4489G>A (p.Gly1497Arg)
|
rs748678280
|
0.00002
|
NM_001035.3(RYR2):c.458C>T (p.Thr153Ile)
|
rs766802574
|
0.00002
|
NM_001035.3(RYR2):c.469G>T (p.Ala157Ser)
|
rs753443369
|
0.00002
|
NM_001035.3(RYR2):c.4733C>G (p.Pro1578Arg)
|
rs765351308
|
0.00002
|
NM_001035.3(RYR2):c.5096G>A (p.Arg1699His)
|
rs779464111
|
0.00002
|
NM_001035.3(RYR2):c.5509G>A (p.Glu1837Lys)
|
rs749184443
|
0.00002
|
NM_001035.3(RYR2):c.556G>A (p.Val186Met)
|
rs201211033
|
0.00002
|
NM_001035.3(RYR2):c.5602C>A (p.Leu1868Ile)
|
rs768636940
|
0.00002
|
NM_001035.3(RYR2):c.5801C>T (p.Ala1934Val)
|
rs368009389
|
0.00002
|
NM_001035.3(RYR2):c.5825T>G (p.Phe1942Cys)
|
rs397516546
|
0.00002
|
NM_001035.3(RYR2):c.5917A>G (p.Ile1973Val)
|
rs780681855
|
0.00002
|
NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr)
|
rs142498105
|
0.00002
|
NM_001035.3(RYR2):c.6800G>A (p.Arg2267His)
|
rs759012078
|
0.00002
|
NM_001035.3(RYR2):c.7063G>A (p.Glu2355Lys)
|
rs754990305
|
0.00002
|
NM_001035.3(RYR2):c.7315G>A (p.Ala2439Thr)
|
rs367818536
|
0.00002
|
NM_001035.3(RYR2):c.7458T>G (p.His2486Gln)
|
rs377763795
|
0.00002
|
NM_001035.3(RYR2):c.782A>G (p.His261Arg)
|
rs577416427
|
0.00002
|
NM_001035.3(RYR2):c.8130T>G (p.Asn2710Lys)
|
rs876661388
|
0.00002
|
NM_001035.3(RYR2):c.8205C>A (p.Asp2735Glu)
|
rs794728823
|
0.00002
|
NM_001035.3(RYR2):c.8357G>C (p.Gly2786Ala)
|
rs1060500149
|
0.00002
|
NM_001035.3(RYR2):c.8398C>G (p.Leu2800Val)
|
rs1060500143
|
0.00002
|
NM_001035.3(RYR2):c.8408G>A (p.Arg2803Gln)
|
rs780643623
|
0.00002
|
NM_001035.3(RYR2):c.8449G>A (p.Ala2817Thr)
|
rs527576067
|
0.00002
|
NM_001035.3(RYR2):c.8798T>G (p.Val2933Gly)
|
rs550691734
|
0.00002
|
NM_001035.3(RYR2):c.8876A>C (p.Glu2959Ala)
|
rs536037366
|
0.00002
|
NM_001035.3(RYR2):c.9094T>G (p.Cys3032Gly)
|
rs193007458
|
0.00002
|
NM_001035.3(RYR2):c.9442G>A (p.Val3148Met)
|
rs876657994
|
0.00002
|
NM_001035.3(RYR2):c.9561G>C (p.Lys3187Asn)
|
rs1060500168
|
0.00002
|
NM_001035.3(RYR2):c.9673G>A (p.Gly3225Ser)
|
rs780484631
|
0.00002
|
NM_001035.3(RYR2):c.9738G>A (p.Met3246Ile)
|
rs771846177
|
0.00002
|
NM_001035.3(RYR2):c.9743G>A (p.Arg3248His)
|
rs1041429670
|
0.00002
|
NM_001103.4(ACTN2):c.1057C>T (p.Arg353Trp)
|
rs1150181
|
0.00002
|
NM_001103.4(ACTN2):c.2231C>T (p.Thr744Met)
|
rs765747662
|
0.00002
|
NM_001103.4(ACTN2):c.419G>A (p.Arg140His)
|
rs370689695
|
0.00002
|
NM_001103.4(ACTN2):c.536+6C>G
|
rs771398006
|
0.00002
|
NM_001103.4(ACTN2):c.646A>G (p.Met216Val)
|
rs749019847
|
0.00002
|
NM_001103.4(ACTN2):c.745G>A (p.Val249Ile)
|
rs771260546
|
0.00002
|
NM_001105206.3(LAMA4):c.1507G>A (p.Glu503Lys)
|
rs782568868
|
0.00002
|
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp)
|
rs767827357
|
0.00002
|
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val)
|
rs397516602
|
0.00002
|
NM_001134363.3(RBM20):c.5T>C (p.Val2Ala)
|
rs996172004
|
0.00002
|
NM_001267550.2(TTN):c.100047A>C (p.Thr33349=)
|
rs727504698
|
0.00002
|
NM_001267550.2(TTN):c.10024G>A (p.Val3342Ile)
|
rs727503679
|
0.00002
|
NM_001267550.2(TTN):c.100303A>C (p.Lys33435Gln)
|
rs773848816
|
0.00002
|
NM_001267550.2(TTN):c.101282G>A (p.Arg33761Gln)
|
rs774790424
|
0.00002
|
NM_001267550.2(TTN):c.102950A>G (p.Gln34317Arg)
|
rs745933614
|
0.00002
|
NM_001267550.2(TTN):c.103859G>A (p.Arg34620His)
|
rs367927066
|
0.00002
|
NM_001267550.2(TTN):c.104315A>G (p.Glu34772Gly)
|
rs766674127
|
0.00002
|
NM_001267550.2(TTN):c.105241G>A (p.Glu35081Lys)
|
rs779952686
|
0.00002
|
NM_001267550.2(TTN):c.11567A>G (p.Asn3856Ser)
|
rs765523683
|
0.00002
|
NM_001267550.2(TTN):c.13782G>A (p.Gln4594=)
|
rs188071134
|
0.00002
|
NM_001267550.2(TTN):c.14002A>G (p.Thr4668Ala)
|
rs758920941
|
0.00002
|
NM_001267550.2(TTN):c.14536G>A (p.Ala4846Thr)
|
rs752150323
|
0.00002
|
NM_001267550.2(TTN):c.21277A>G (p.Thr7093Ala)
|
rs773883340
|
0.00002
|
NM_001267550.2(TTN):c.26684G>A (p.Ser8895Asn)
|
rs752659193
|
0.00002
|
NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser)
|
rs753121692
|
0.00002
|
NM_001267550.2(TTN):c.29962+1G>T
|
rs774961188
|
0.00002
|
NM_001267550.2(TTN):c.31351C>T (p.Pro10451Ser)
|
rs927638747
|
0.00002
|
NM_001267550.2(TTN):c.32797C>A (p.Pro10933Thr)
|
rs773350281
|
0.00002
|
NM_001267550.2(TTN):c.40335C>T (p.Leu13445=)
|
rs727504696
|
0.00002
|
NM_001267550.2(TTN):c.43918C>T (p.Arg14640Cys)
|
rs72650088
|
0.00002
|
NM_001267550.2(TTN):c.45143T>C (p.Ile15048Thr)
|
rs727505261
|
0.00002
|
NM_001267550.2(TTN):c.46G>A (p.Val16Met)
|
rs756212082
|
0.00002
|
NM_001267550.2(TTN):c.47429C>T (p.Thr15810Ile)
|
rs748816848
|
0.00002
|
NM_001267550.2(TTN):c.48346G>A (p.Val16116Ile)
|
rs367769671
|
0.00002
|
NM_001267550.2(TTN):c.54622G>A (p.Glu18208Lys)
|
rs575533984
|
0.00002
|
NM_001267550.2(TTN):c.61462G>A (p.Val20488Met)
|
rs77957535
|
0.00002
|
NM_001267550.2(TTN):c.61963G>A (p.Glu20655Lys)
|
rs776314797
|
0.00002
|
NM_001267550.2(TTN):c.63285G>A (p.Pro21095=)
|
rs760168563
|
0.00002
|
NM_001267550.2(TTN):c.64238A>G (p.Asp21413Gly)
|
rs375659466
|
0.00002
|
NM_001267550.2(TTN):c.66386G>A (p.Arg22129His)
|
rs187257105
|
0.00002
|
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=)
|
rs548223512
|
0.00002
|
NM_001267550.2(TTN):c.69287C>T (p.Ser23096Phe)
|
rs775422985
|
0.00002
|
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile)
|
rs752648041
|
0.00002
|
NM_001267550.2(TTN):c.73439C>G (p.Ser24480Cys)
|
rs775608256
|
0.00002
|
NM_001267550.2(TTN):c.91004A>G (p.Asn30335Ser)
|
rs768793048
|
0.00002
|
NM_001267550.2(TTN):c.93474C>T (p.Asp31158=)
|
rs750803038
|
0.00002
|
NM_001267550.2(TTN):c.94711G>A (p.Val31571Met)
|
rs140081451
|
0.00002
|
NM_001267550.2(TTN):c.94828G>A (p.Ala31610Thr)
|
rs141357723
|
0.00002
|
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu)
|
rs587780983
|
0.00002
|
NM_001267550.2(TTN):c.95521A>G (p.Asn31841Asp)
|
rs794729540
|
0.00002
|
NM_001267550.2(TTN):c.97605T>G (p.Ile32535Met)
|
rs760676361
|
0.00002
|
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu)
|
rs140025425
|
0.00002
|
NM_001276345.2(TNNT2):c.110C>G (p.Ala37Gly)
|
rs776406819
|
0.00002
|
NM_001276345.2(TNNT2):c.260C>T (p.Pro87Leu)
|
rs144900708
|
0.00002
|
NM_001276345.2(TNNT2):c.295-13G>A
|
rs764804961
|
0.00002
|
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val)
|
rs727504245
|
0.00002
|
NM_001276345.2(TNNT2):c.34G>A (p.Glu12Lys)
|
rs760247765
|
0.00002
|
NM_001276345.2(TNNT2):c.40G>A (p.Glu14Lys)
|
rs772890125
|
0.00002
|
NM_001276345.2(TNNT2):c.610-15T>A
|
rs950076691
|
0.00002
|
NM_001318895.3(FHL2):c.332-6T>A
|
rs754744445
|
0.00002
|
NM_001330.5(CTF1):c.474C>T (p.Thr158=)
|
rs1217608616
|
0.00002
|
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile)
|
rs759452636
|
0.00002
|
NM_001458.5(FLNC):c.6773C>T (p.Ser2258Leu)
|
rs762051422
|
0.00002
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
NM_001927.4(DES):c.1325C>A (p.Thr442Asn)
|
rs121913005
|
0.00002
|
NM_001927.4(DES):c.212C>T (p.Ala71Val)
|
rs759235186
|
0.00002
|
NM_001943.5(DSG2):c.1195G>A (p.Glu399Lys)
|
rs774863785
|
0.00002
|
NM_001943.5(DSG2):c.1480G>A (p.Asp494Asn)
|
rs747248279
|
0.00002
|
NM_001943.5(DSG2):c.1967C>A (p.Pro656His)
|
rs1288233995
|
0.00002
|
NM_001943.5(DSG2):c.2084C>T (p.Thr695Met)
|
rs200137091
|
0.00002
|
NM_001943.5(DSG2):c.2165G>A (p.Arg722Lys)
|
rs376819371
|
0.00002
|
NM_001943.5(DSG2):c.2179G>A (p.Gly727Ser)
|
rs755555966
|
0.00002
|
NM_001943.5(DSG2):c.2212G>A (p.Ala738Thr)
|
rs397516705
|
0.00002
|
NM_001943.5(DSG2):c.2269A>T (p.Met757Leu)
|
rs750010743
|
0.00002
|
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val)
|
rs547406532
|
0.00002
|
NM_001943.5(DSG2):c.244G>A (p.Gly82Arg)
|
rs762769555
|
0.00002
|
NM_001943.5(DSG2):c.2569C>T (p.Pro857Ser)
|
rs775091459
|
0.00002
|
NM_001943.5(DSG2):c.2623A>G (p.Met875Val)
|
rs370316475
|
0.00002
|
NM_001943.5(DSG2):c.2996C>T (p.Ser999Leu)
|
rs762717195
|
0.00002
|
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln)
|
rs532305326
|
0.00002
|
NM_001943.5(DSG2):c.527C>T (p.Thr176Ile)
|
rs536617217
|
0.00002
|
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys)
|
rs121913012
|
0.00002
|
NM_002230.4(JUP):c.286G>A (p.Glu96Lys)
|
rs191683892
|
0.00002
|
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg)
|
rs727504953
|
0.00002
|
NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln)
|
rs750118236
|
0.00002
|
NM_002471.4(MYH6):c.3154C>T (p.Arg1052Ter)
|
rs532606047
|
0.00002
|
NM_002667.5(PLN):c.34A>G (p.Ile12Val)
|
rs749571694
|
0.00002
|
NM_002667.5(PLN):c.36A>G (p.Ile12Met)
|
rs774556120
|
0.00002
|
NM_003280.3(TNNC1):c.203-10C>G
|
rs727505237
|
0.00002
|
NM_003280.3(TNNC1):c.216G>A (p.Val72=)
|
rs770331194
|
0.00002
|
NM_003476.5(CSRP3):c.437G>A (p.Arg146His)
|
rs377066670
|
0.00002
|
NM_004281.4(BAG3):c.1096G>C (p.Val366Leu)
|
rs1215731985
|
0.00002
|
NM_004415.4(DSP):c.104G>C (p.Gly35Ala)
|
rs202194206
|
0.00002
|
NM_004415.4(DSP):c.130C>T (p.Arg44Trp)
|
rs1255744065
|
0.00002
|
NM_004415.4(DSP):c.1349C>T (p.Pro450Leu)
|
rs756357907
|
0.00002
|
NM_004415.4(DSP):c.1419+5G>C
|
rs1004508873
|
0.00002
|
NM_004415.4(DSP):c.1493C>T (p.Pro498Leu)
|
rs761051181
|
0.00002
|
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp)
|
rs372467697
|
0.00002
|
NM_004415.4(DSP):c.2000G>C (p.Trp667Ser)
|
rs760214732
|
0.00002
|
NM_004415.4(DSP):c.2027G>A (p.Arg676His)
|
rs777782794
|
0.00002
|
NM_004415.4(DSP):c.2184T>A (p.Asp728Glu)
|
rs750383681
|
0.00002
|
NM_004415.4(DSP):c.2275G>A (p.Val759Ile)
|
rs745544854
|
0.00002
|
NM_004415.4(DSP):c.2329A>G (p.Ile777Val)
|
rs755860619
|
0.00002
|
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu)
|
rs774638728
|
0.00002
|
NM_004415.4(DSP):c.2675G>A (p.Arg892His)
|
rs758592774
|
0.00002
|
NM_004415.4(DSP):c.2719C>T (p.Arg907Cys)
|
rs749051278
|
0.00002
|
NM_004415.4(DSP):c.2771T>C (p.Met924Thr)
|
rs752816142
|
0.00002
|
NM_004415.4(DSP):c.2861G>A (p.Cys954Tyr)
|
rs779878192
|
0.00002
|
NM_004415.4(DSP):c.3282G>A (p.Lys1094=)
|
rs2491080
|
0.00002
|
NM_004415.4(DSP):c.3388G>A (p.Asp1130Asn)
|
rs765769174
|
0.00002
|
NM_004415.4(DSP):c.3754G>A (p.Glu1252Lys)
|
rs1262533485
|
0.00002
|
NM_004415.4(DSP):c.3766C>T (p.Leu1256Phe)
|
rs775080202
|
0.00002
|
NM_004415.4(DSP):c.3774C>A (p.Asp1258Glu)
|
rs748733750
|
0.00002
|
NM_004415.4(DSP):c.3800G>A (p.Arg1267Gln)
|
rs759698959
|
0.00002
|
NM_004415.4(DSP):c.3835G>A (p.Ala1279Thr)
|
rs763915365
|
0.00002
|
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val)
|
rs376555665
|
0.00002
|
NM_004415.4(DSP):c.3912G>C (p.Glu1304Asp)
|
rs764189408
|
0.00002
|
NM_004415.4(DSP):c.4233G>C (p.Arg1411Ser)
|
rs771721410
|
0.00002
|
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg)
|
rs746782582
|
0.00002
|
NM_004415.4(DSP):c.4471G>A (p.Asp1491Asn)
|
rs768402359
|
0.00002
|
NM_004415.4(DSP):c.4478A>C (p.Glu1493Ala)
|
rs760433367
|
0.00002
|
NM_004415.4(DSP):c.449G>A (p.Arg150Gln)
|
rs587782940
|
0.00002
|
NM_004415.4(DSP):c.4514C>T (p.Ala1505Val)
|
rs375919492
|
0.00002
|
NM_004415.4(DSP):c.4565C>T (p.Thr1522Met)
|
rs375150075
|
0.00002
|
NM_004415.4(DSP):c.4610G>A (p.Arg1537His)
|
rs762135558
|
0.00002
|
NM_004415.4(DSP):c.4657G>A (p.Asp1553Asn)
|
rs730880084
|
0.00002
|
NM_004415.4(DSP):c.467T>A (p.Ile156Asn)
|
rs767692014
|
0.00002
|
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro)
|
rs749679496
|
0.00002
|
NM_004415.4(DSP):c.5084G>A (p.Ser1695Asn)
|
rs758637843
|
0.00002
|
NM_004415.4(DSP):c.517A>T (p.Thr173Ser)
|
rs1372912970
|
0.00002
|
NM_004415.4(DSP):c.5183G>A (p.Arg1728Lys)
|
rs750854585
|
0.00002
|
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile)
|
rs34738426
|
0.00002
|
NM_004415.4(DSP):c.5383T>A (p.Ser1795Thr)
|
rs764279057
|
0.00002
|
NM_004415.4(DSP):c.5932A>G (p.Met1978Val)
|
rs770077556
|
0.00002
|
NM_004415.4(DSP):c.6100G>A (p.Ala2034Thr)
|
rs1043978096
|
0.00002
|
NM_004415.4(DSP):c.6223C>T (p.Arg2075Trp)
|
rs751050235
|
0.00002
|
NM_004415.4(DSP):c.6269A>G (p.Glu2090Gly)
|
rs755069593
|
0.00002
|
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser)
|
rs372393122
|
0.00002
|
NM_004415.4(DSP):c.6451C>T (p.Arg2151Trp)
|
rs181608152
|
0.00002
|
NM_004415.4(DSP):c.6464A>G (p.Asp2155Gly)
|
rs752740718
|
0.00002
|
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe)
|
rs1581822548
|
0.00002
|
NM_004415.4(DSP):c.668G>A (p.Gly223Asp)
|
rs199509943
|
0.00002
|
NM_004415.4(DSP):c.7117G>A (p.Ala2373Thr)
|
rs373965771
|
0.00002
|
NM_004415.4(DSP):c.7184G>A (p.Gly2395Asp)
|
rs777930834
|
0.00002
|
NM_004415.4(DSP):c.7200A>C (p.Glu2400Asp)
|
rs1209240894
|
0.00002
|
NM_004415.4(DSP):c.7310A>G (p.Glu2437Gly)
|
rs794728132
|
0.00002
|
NM_004415.4(DSP):c.7622G>A (p.Arg2541Lys)
|
rs142078450
|
0.00002
|
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile)
|
rs869025397
|
0.00002
|
NM_004415.4(DSP):c.8042A>C (p.Asp2681Ala)
|
rs746166372
|
0.00002
|
NM_004415.4(DSP):c.8044C>G (p.Gln2682Glu)
|
rs772365921
|
0.00002
|
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val)
|
rs747284663
|
0.00002
|
NM_004415.4(DSP):c.8279C>T (p.Ala2760Val)
|
rs774309765
|
0.00002
|
NM_004415.4(DSP):c.8402G>A (p.Arg2801His)
|
rs763712887
|
0.00002
|
NM_004415.4(DSP):c.8536C>G (p.Arg2846Gly)
|
rs397516972
|
0.00002
|
NM_005159.5(ACTC1):c.*5C>G
|
rs756594449
|
0.00002
|
NM_005159.5(ACTC1):c.19A>T (p.Thr7Ser)
|
rs746748461
|
0.00002
|
NM_005159.5(ACTC1):c.217A>G (p.Ile73Val)
|
rs750951965
|
0.00002
|
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg)
|
rs370521488
|
0.00002
|
NM_014000.3(VCL):c.1019C>T (p.Ala340Val)
|
rs374928228
|
0.00002
|
NM_016203.4(PRKAG2):c.1051+3A>G
|
rs376499470
|
0.00002
|
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr)
|
rs377603922
|
0.00002
|
NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu)
|
rs984007665
|
0.00002
|
NM_016203.4(PRKAG2):c.1364G>A (p.Arg455Lys)
|
rs747840565
|
0.00002
|
NM_016203.4(PRKAG2):c.137C>A (p.Pro46Gln)
|
rs373477232
|
0.00002
|
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=)
|
rs767613486
|
0.00002
|
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile)
|
rs778668093
|
0.00002
|
NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln)
|
rs730880983
|
0.00002
|
NM_016203.4(PRKAG2):c.181C>T (p.Arg61Ter)
|
rs770100112
|
0.00002
|
NM_016203.4(PRKAG2):c.356G>A (p.Arg119Gln)
|
rs142808871
|
0.00002
|
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu)
|
rs150140412
|
0.00002
|
NM_016203.4(PRKAG2):c.454C>T (p.Arg152Cys)
|
rs752783859
|
0.00002
|
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)
|
rs145006140
|
0.00002
|
NM_016203.4(PRKAG2):c.642G>C (p.Arg214Ser)
|
rs757556996
|
0.00002
|
NM_016203.4(PRKAG2):c.685-5C>A
|
rs779931367
|
0.00002
|
NM_024334.3(TMEM43):c.1022G>A (p.Arg341Gln)
|
rs749727938
|
0.00002
|
NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu)
|
rs730880227
|
0.00002
|
NM_024334.3(TMEM43):c.1172G>A (p.Arg391Gln)
|
rs757742631
|
0.00002
|
NM_024334.3(TMEM43):c.179C>T (p.Thr60Met)
|
rs1362645227
|
0.00002
|
NM_024334.3(TMEM43):c.32G>A (p.Arg11Gln)
|
rs568179990
|
0.00002
|
NM_024334.3(TMEM43):c.475A>G (p.Lys159Glu)
|
rs1269566290
|
0.00002
|
NM_024334.3(TMEM43):c.719G>A (p.Arg240His)
|
rs758817244
|
0.00002
|
NM_024334.3(TMEM43):c.778G>A (p.Val260Met)
|
rs758872772
|
0.00002
|
NM_024334.3(TMEM43):c.98C>T (p.Ser33Leu)
|
rs539753097
|
0.00002
|
NM_024422.6(DSC2):c.1033A>G (p.Ile345Val)
|
rs1177194145
|
0.00002
|
NM_024422.6(DSC2):c.1231A>G (p.Lys411Glu)
|
rs560482778
|
0.00002
|
NM_024422.6(DSC2):c.1438A>G (p.Met480Val)
|
rs370616107
|
0.00002
|
NM_024422.6(DSC2):c.149G>A (p.Gly50Asp)
|
rs397517391
|
0.00002
|
NM_024422.6(DSC2):c.1846A>G (p.Thr616Ala)
|
rs753887142
|
0.00002
|
NM_024422.6(DSC2):c.1862G>T (p.Arg621Ile)
|
rs1225904818
|
0.00002
|
NM_024422.6(DSC2):c.1938T>G (p.Tyr646Ter)
|
rs397517395
|
0.00002
|
NM_024422.6(DSC2):c.20C>T (p.Ser7Phe)
|
rs1227564823
|
0.00002
|
NM_024422.6(DSC2):c.2138C>T (p.Thr713Met)
|
rs180863872
|
0.00002
|
NM_024422.6(DSC2):c.2287G>A (p.Ala763Thr)
|
rs777004957
|
0.00002
|
NM_024422.6(DSC2):c.2392C>T (p.Arg798Trp)
|
rs201548399
|
0.00002
|
NM_024422.6(DSC2):c.394C>T (p.Arg132Cys)
|
rs727504578
|
0.00002
|
NM_024422.6(DSC2):c.658G>A (p.Gly220Arg)
|
rs750961818
|
0.00002
|
NM_024422.6(DSC2):c.745A>C (p.Thr249Pro)
|
rs149848359
|
0.00002
|
NM_024422.6(DSC2):c.865C>T (p.Pro289Ser)
|
rs200802591
|
0.00002
|
NM_024422.6(DSC2):c.874C>T (p.Pro292Ser)
|
rs767340313
|
0.00002
|
NM_024422.6(DSC2):c.898A>G (p.Thr300Ala)
|
rs531245154
|
0.00002
|
NM_024422.6(DSC2):c.943-1G>A
|
rs796756333
|
0.00002
|
NM_024422.6(DSC2):c.965A>G (p.Lys322Arg)
|
rs1157312147
|
0.00002
|
NM_024422.6(DSC2):c.977A>C (p.Gln326Pro)
|
rs397517409
|
0.00002
|
NM_033118.4(MYLK2):c.364G>C (p.Asp122His)
|
rs748134754
|
0.00002
|
NM_033337.3(CAV3):c.401C>T (p.Ala134Val)
|
rs201267913
|
0.00002
|
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp)
|
rs730880422
|
0.00002
|
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn)
|
rs373377525
|
0.00002
|
NM_170707.4(LMNA):c.-1C>A
|
rs886043355
|
0.00002
|
NM_170707.4(LMNA):c.1187A>T (p.Gln396Leu)
|
rs61693978
|
0.00002
|
NM_170707.4(LMNA):c.1190G>A (p.Arg397His)
|
rs747952058
|
0.00002
|
NM_170707.4(LMNA):c.1279C>T (p.Arg427Cys)
|
rs373584456
|
0.00002
|
NM_170707.4(LMNA):c.1318G>A (p.Val440Met)
|
rs121912493
|
0.00002
|
NM_170707.4(LMNA):c.1748C>T (p.Ser583Leu)
|
rs59601651
|
0.00002
|
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys)
|
rs777841827
|
0.00002
|
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr)
|
rs1060502216
|
0.00002
|
NM_170707.4(LMNA):c.364A>G (p.Lys122Glu)
|
rs1222398892
|
0.00002
|
NM_170707.4(LMNA):c.566G>A (p.Arg189Gln)
|
rs766856162
|
0.00002
|
NM_170707.4(LMNA):c.647G>A (p.Arg216His)
|
rs757041809
|
0.00002
|
NM_170707.4(LMNA):c.658C>T (p.Arg220Cys)
|
rs370134870
|
0.00002
|
NM_170707.4(LMNA):c.74G>T (p.Arg25Leu)
|
rs61578124
|
0.00002
|
NM_170707.4(LMNA):c.884C>T (p.Ser295Leu)
|
rs769210828
|
0.00002
|
NM_170707.4(LMNA):c.886C>T (p.Arg296Cys)
|
rs375987939
|
0.00002
|
NM_170707.4(LMNA):c.977C>T (p.Ser326Leu)
|
rs745540806
|
0.00002
|
NM_170707.4(LMNA):c.986G>A (p.Arg329His)
|
rs397517913
|
0.00002
|
NM_000117.3(EMD):c.167C>T (p.Ala56Val)
|
rs781840855
|
0.00001
|
NM_000256.3(MYBPC3):c.-11C>T
|
rs762719022
|
0.00001
|
NM_000256.3(MYBPC3):c.1003C>T (p.Arg335Cys)
|
rs730880630
|
0.00001
|
NM_000256.3(MYBPC3):c.1009G>A (p.Ala337Thr)
|
rs769830766
|
0.00001
|
NM_000256.3(MYBPC3):c.1024G>A (p.Val342Ile)
|
rs397515882
|
0.00001
|
NM_000256.3(MYBPC3):c.1037G>A (p.Arg346His)
|
rs397515883
|
0.00001
|
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=)
|
rs758016271
|
0.00001
|
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His)
|
rs199741162
|
0.00001
|
NM_000256.3(MYBPC3):c.1074T>A (p.Asp358Glu)
|
rs775464343
|
0.00001
|
NM_000256.3(MYBPC3):c.1112C>T (p.Pro371Leu)
|
rs397515887
|
0.00001
|
NM_000256.3(MYBPC3):c.112G>A (p.Val38Met)
|
rs1299024877
|
0.00001
|
NM_000256.3(MYBPC3):c.1139A>G (p.Lys380Arg)
|
rs1377634776
|
0.00001
|
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met)
|
rs772073491
|
0.00001
|
NM_000256.3(MYBPC3):c.1174G>A (p.Ala392Thr)
|
rs1019697151
|
0.00001
|
NM_000256.3(MYBPC3):c.11C>T (p.Pro4Leu)
|
rs748689012
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-9C>A
|
rs11570079
|
0.00001
|
NM_000256.3(MYBPC3):c.122G>A (p.Arg41His)
|
rs764849803
|
0.00001
|
NM_000256.3(MYBPC3):c.1287G>A (p.Ala429=)
|
rs778718628
|
0.00001
|
NM_000256.3(MYBPC3):c.1316G>A (p.Gly439Asp)
|
rs763045718
|
0.00001
|
NM_000256.3(MYBPC3):c.1363C>T (p.Leu455Phe)
|
rs747686377
|
0.00001
|
NM_000256.3(MYBPC3):c.1373G>A (p.Arg458His)
|
rs374255707
|
0.00001
|
NM_000256.3(MYBPC3):c.1375C>T (p.Pro459Ser)
|
rs758901980
|
0.00001
|
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln)
|
rs776734314
|
0.00001
|
NM_000256.3(MYBPC3):c.1433C>T (p.Ser478Leu)
|
rs730880540
|
0.00001
|
NM_000256.3(MYBPC3):c.145A>T (p.Ile49Phe)
|
rs760058908
|
0.00001
|
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met)
|
rs730880543
|
0.00001
|
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly)
|
rs373164247
|
0.00001
|
NM_000256.3(MYBPC3):c.1554G>A (p.Met518Ile)
|
rs372499440
|
0.00001
|
NM_000256.3(MYBPC3):c.1652T>A (p.Ile551Asn)
|
rs1047978195
|
0.00001
|
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val)
|
rs730880694
|
0.00001
|
NM_000256.3(MYBPC3):c.1759G>A (p.Asp587Asn)
|
rs730880526
|
0.00001
|
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His)
|
rs397515923
|
0.00001
|
NM_000256.3(MYBPC3):c.1773G>T (p.Lys591Asn)
|
rs754902004
|
0.00001
|
NM_000256.3(MYBPC3):c.1778C>T (p.Ser593Phe)
|
rs397515924
|
0.00001
|
NM_000256.3(MYBPC3):c.1791-13T>A
|
rs982545302
|
0.00001
|
NM_000256.3(MYBPC3):c.1797C>A (p.His599Gln)
|
rs1446676554
|
0.00001
|
NM_000256.3(MYBPC3):c.1809T>G (p.Ile603Met)
|
rs774348756
|
0.00001
|
NM_000256.3(MYBPC3):c.188G>A (p.Arg63Gln)
|
rs549239819
|
0.00001
|
NM_000256.3(MYBPC3):c.1897+3G>A
|
rs937023392
|
0.00001
|
NM_000256.3(MYBPC3):c.1927+3A>C
|
rs730880559
|
0.00001
|
NM_000256.3(MYBPC3):c.1928-3C>T
|
rs1415195455
|
0.00001
|
NM_000256.3(MYBPC3):c.1972A>T (p.Thr658Ser)
|
rs950381214
|
0.00001
|
NM_000256.3(MYBPC3):c.2002C>T (p.Arg668Cys)
|
rs730880561
|
0.00001
|
NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=)
|
rs757832991
|
0.00001
|
NM_000256.3(MYBPC3):c.2035C>T (p.Pro679Ser)
|
rs372493586
|
0.00001
|
NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln)
|
rs397515945
|
0.00001
|
NM_000256.3(MYBPC3):c.2074A>C (p.Lys692Gln)
|
rs730880562
|
0.00001
|
NM_000256.3(MYBPC3):c.2119G>A (p.Asp707Asn)
|
rs774838273
|
0.00001
|
NM_000256.3(MYBPC3):c.2126A>T (p.Asp709Val)
|
rs1270219308
|
0.00001
|
NM_000256.3(MYBPC3):c.2164G>A (p.Glu722Lys)
|
rs730880696
|
0.00001
|
NM_000256.3(MYBPC3):c.2170C>T (p.Arg724Trp)
|
rs200399246
|
0.00001
|
NM_000256.3(MYBPC3):c.2269G>A (p.Val757Met)
|
rs369790992
|
0.00001
|
NM_000256.3(MYBPC3):c.2273G>A (p.Gly758Asp)
|
rs1163861044
|
0.00001
|
NM_000256.3(MYBPC3):c.2300A>G (p.Lys767Arg)
|
rs760786216
|
0.00001
|
NM_000256.3(MYBPC3):c.2309-4C>T
|
rs942669152
|
0.00001
|
NM_000256.3(MYBPC3):c.2320G>A (p.Ala774Thr)
|
rs368104687
|
0.00001
|
NM_000256.3(MYBPC3):c.2327C>T (p.Ala776Val)
|
rs1188736507
|
0.00001
|
NM_000256.3(MYBPC3):c.2330C>T (p.Ala777Val)
|
rs759631792
|
0.00001
|
NM_000256.3(MYBPC3):c.2336A>G (p.Lys779Arg)
|
rs774512738
|
0.00001
|
NM_000256.3(MYBPC3):c.2345A>G (p.Asn782Ser)
|
rs776351251
|
0.00001
|
NM_000256.3(MYBPC3):c.2347G>T (p.Val783Leu)
|
rs1060499878
|
0.00001
|
NM_000256.3(MYBPC3):c.2398G>A (p.Gly800Arg)
|
rs727504574
|
0.00001
|
NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu)
|
rs1273374175
|
0.00001
|
NM_000256.3(MYBPC3):c.244A>G (p.Ile82Val)
|
rs1470947124
|
0.00001
|
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln)
|
rs397515964
|
0.00001
|
NM_000256.3(MYBPC3):c.2501G>C (p.Arg834Pro)
|
rs540988604
|
0.00001
|
NM_000256.3(MYBPC3):c.2536G>A (p.Val846Ile)
|
rs747774791
|
0.00001
|
NM_000256.3(MYBPC3):c.2551G>A (p.Ala851Thr)
|
rs730880571
|
0.00001
|
NM_000256.3(MYBPC3):c.2605C>T (p.Pro869Ser)
|
rs1219654172
|
0.00001
|
NM_000256.3(MYBPC3):c.2641G>A (p.Val881Ile)
|
rs727504360
|
0.00001
|
NM_000256.3(MYBPC3):c.2665A>C (p.Lys889Gln)
|
rs970845959
|
0.00001
|
NM_000256.3(MYBPC3):c.2671C>T (p.Arg891Trp)
|
rs727504418
|
0.00001
|
NM_000256.3(MYBPC3):c.26T>C (p.Val9Ala)
|
rs1395620536
|
0.00001
|
NM_000256.3(MYBPC3):c.2714G>A (p.Ser905Asn)
|
rs397515983
|
0.00001
|
NM_000256.3(MYBPC3):c.2716G>A (p.Val906Met)
|
rs774634021
|
0.00001
|
NM_000256.3(MYBPC3):c.2723A>G (p.Tyr908Cys)
|
rs397515984
|
0.00001
|
NM_000256.3(MYBPC3):c.2771C>T (p.Thr924Ile)
|
rs200406864
|
0.00001
|
NM_000256.3(MYBPC3):c.280G>T (p.Val94Phe)
|
rs770777166
|
0.00001
|
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp)
|
rs534366414
|
0.00001
|
NM_000256.3(MYBPC3):c.2833C>T (p.Arg945Trp)
|
rs727503183
|
0.00001
|
NM_000256.3(MYBPC3):c.2834G>A (p.Arg945Gln)
|
rs1443971720
|
0.00001
|
NM_000256.3(MYBPC3):c.283A>C (p.Ile95Leu)
|
rs549758428
|
0.00001
|
NM_000256.3(MYBPC3):c.2915G>A (p.Arg972Gln)
|
rs761696555
|
0.00001
|
NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys)
|
rs397515994
|
0.00001
|
NM_000256.3(MYBPC3):c.2995-5C>G
|
rs376083315
|
0.00001
|
NM_000256.3(MYBPC3):c.3037C>G (p.Pro1013Ala)
|
rs965977966
|
0.00001
|
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln)
|
rs397516003
|
0.00001
|
NM_000256.3(MYBPC3):c.3109C>T (p.Arg1037Cys)
|
rs758421775
|
0.00001
|
NM_000256.3(MYBPC3):c.3110G>A (p.Arg1037His)
|
rs750609594
|
0.00001
|
NM_000256.3(MYBPC3):c.3112G>A (p.Val1038Met)
|
rs370223247
|
0.00001
|
NM_000256.3(MYBPC3):c.3142C>T (p.Arg1048Cys)
|
rs11570113
|
0.00001
|
NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys)
|
rs780449220
|
0.00001
|
NM_000256.3(MYBPC3):c.317C>G (p.Pro106Arg)
|
rs986848670
|
0.00001
|
NM_000256.3(MYBPC3):c.3191-5C>T
|
rs1384298522
|
0.00001
|
NM_000256.3(MYBPC3):c.3197C>G (p.Pro1066Arg)
|
rs2095879154
|
0.00001
|
NM_000256.3(MYBPC3):c.3210G>C (p.Gln1070His)
|
rs1164619452
|
0.00001
|
NM_000256.3(MYBPC3):c.3217C>T (p.Arg1073Trp)
|
rs368973872
|
0.00001
|
NM_000256.3(MYBPC3):c.3223A>G (p.Thr1075Ala)
|
rs767927162
|
0.00001
|
NM_000256.3(MYBPC3):c.322C>T (p.Pro108Ser)
|
rs749233808
|
0.00001
|
NM_000256.3(MYBPC3):c.3277G>T (p.Gly1093Cys)
|
rs727503173
|
0.00001
|
NM_000256.3(MYBPC3):c.3284C>T (p.Thr1095Met)
|
rs755653624
|
0.00001
|
NM_000256.3(MYBPC3):c.3295G>C (p.Gly1099Arg)
|
rs1064794364
|
0.00001
|
NM_000256.3(MYBPC3):c.3328A>G (p.Met1110Val)
|
rs1221557714
|
0.00001
|
NM_000256.3(MYBPC3):c.332C>T (p.Ala111Val)
|
rs730880530
|
0.00001
|
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys)
|
rs368721523
|
0.00001
|
NM_000256.3(MYBPC3):c.3359G>A (p.Arg1120His)
|
rs1297036943
|
0.00001
|
NM_000256.3(MYBPC3):c.3379C>T (p.Pro1127Ser)
|
rs1488618086
|
0.00001
|
NM_000256.3(MYBPC3):c.3491-14C>A
|
rs1380147625
|
0.00001
|
NM_000256.3(MYBPC3):c.3514T>C (p.Tyr1172His)
|
rs1280085255
|
0.00001
|
NM_000256.3(MYBPC3):c.3518A>G (p.Lys1173Arg)
|
rs1165270727
|
0.00001
|
NM_000256.3(MYBPC3):c.355G>A (p.Glu119Lys)
|
rs397516025
|
0.00001
|
NM_000256.3(MYBPC3):c.3568C>T (p.Arg1190Cys)
|
rs755160084
|
0.00001
|
NM_000256.3(MYBPC3):c.3572C>T (p.Ser1191Leu)
|
rs761545914
|
0.00001
|
NM_000256.3(MYBPC3):c.3605G>C (p.Cys1202Ser)
|
rs727503170
|
0.00001
|
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp)
|
rs727503171
|
0.00001
|
NM_000256.3(MYBPC3):c.3628-6T>C
|
rs1057520329
|
0.00001
|
NM_000256.3(MYBPC3):c.364G>A (p.Ala122Thr)
|
rs754633960
|
0.00001
|
NM_000256.3(MYBPC3):c.3673G>A (p.Ala1225Thr)
|
rs1278226452
|
0.00001
|
NM_000256.3(MYBPC3):c.3750C>G (p.Ile1250Met)
|
rs770102135
|
0.00001
|
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)
|
rs727503167
|
0.00001
|
NM_000256.3(MYBPC3):c.3781G>A (p.Glu1261Lys)
|
rs730880141
|
0.00001
|
NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln)
|
rs762225417
|
0.00001
|
NM_000256.3(MYBPC3):c.3815-10T>G
|
rs397516043
|
0.00001
|
NM_000256.3(MYBPC3):c.394C>T (p.Pro132Ser)
|
rs1042129854
|
0.00001
|
NM_000256.3(MYBPC3):c.3G>A (p.Met1Ile)
|
rs397516045
|
0.00001
|
NM_000256.3(MYBPC3):c.418G>C (p.Ala140Pro)
|
rs730880614
|
0.00001
|
NM_000256.3(MYBPC3):c.41A>G (p.Lys14Arg)
|
rs779049126
|
0.00001
|
NM_000256.3(MYBPC3):c.434C>A (p.Pro145His)
|
rs768309693
|
0.00001
|
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro)
|
rs397516048
|
0.00001
|
NM_000256.3(MYBPC3):c.451G>A (p.Asp151Asn)
|
rs397516051
|
0.00001
|
NM_000256.3(MYBPC3):c.467T>C (p.Leu156Pro)
|
rs730880616
|
0.00001
|
NM_000256.3(MYBPC3):c.495G>C (p.Glu165Asp)
|
rs730880619
|
0.00001
|
NM_000256.3(MYBPC3):c.505+6T>C
|
rs397516055
|
0.00001
|
NM_000256.3(MYBPC3):c.505+9G>A
|
rs890255177
|
0.00001
|
NM_000256.3(MYBPC3):c.517A>G (p.Thr173Ala)
|
rs727505168
|
0.00001
|
NM_000256.3(MYBPC3):c.547C>T (p.Leu183Phe)
|
rs1293264960
|
0.00001
|
NM_000256.3(MYBPC3):c.602G>A (p.Ser201Asn)
|
rs1395414085
|
0.00001
|
NM_000256.3(MYBPC3):c.631G>A (p.Asp211Asn)
|
rs773414747
|
0.00001
|
NM_000256.3(MYBPC3):c.651C>T (p.Ser217=)
|
rs1199611247
|
0.00001
|
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu)
|
rs886039000
|
0.00001
|
NM_000256.3(MYBPC3):c.73A>T (p.Ser25Cys)
|
rs749970304
|
0.00001
|
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys)
|
rs551119259
|
0.00001
|
NM_000256.3(MYBPC3):c.821C>T (p.Thr274Met)
|
rs748746951
|
0.00001
|
NM_000256.3(MYBPC3):c.822-5C>G
|
rs764381544
|
0.00001
|
NM_000256.3(MYBPC3):c.823A>T (p.Ser275Cys)
|
rs1224529304
|
0.00001
|
NM_000256.3(MYBPC3):c.845G>A (p.Arg282Gln)
|
rs761520688
|
0.00001
|
NM_000256.3(MYBPC3):c.851+2T>C
|
rs1194615408
|
0.00001
|
NM_000256.3(MYBPC3):c.852-6C>T
|
rs397516078
|
0.00001
|
NM_000256.3(MYBPC3):c.859C>T (p.His287Tyr)
|
rs776238883
|
0.00001
|
NM_000256.3(MYBPC3):c.886A>G (p.Ser296Gly)
|
rs768164989
|
0.00001
|
NM_000256.3(MYBPC3):c.906-11C>T
|
rs1296550753
|
0.00001
|
NM_000256.3(MYBPC3):c.906-30T>G
|
rs1215702043
|
0.00001
|
NM_000256.3(MYBPC3):c.908+3A>G
|
rs2095895009
|
0.00001
|
NM_000256.3(MYBPC3):c.923C>T (p.Pro308Leu)
|
rs1330127507
|
0.00001
|
NM_000256.3(MYBPC3):c.926+1G>A
|
rs767239679
|
0.00001
|
NM_000256.3(MYBPC3):c.950C>T (p.Ala317Val)
|
rs1281956829
|
0.00001
|
NM_000257.4(MYH7):c.-8G>A
|
rs45556042
|
0.00001
|
NM_000257.4(MYH7):c.1045A>G (p.Met349Val)
|
rs730880730
|
0.00001
|
NM_000257.4(MYH7):c.1118C>T (p.Ala373Val)
|
rs730880924
|
0.00001
|
NM_000257.4(MYH7):c.1129G>C (p.Gly377Arg)
|
rs773599095
|
0.00001
|
NM_000257.4(MYH7):c.124G>A (p.Asp42Asn)
|
rs780785242
|
0.00001
|
NM_000257.4(MYH7):c.1407+4A>C
|
rs373043783
|
0.00001
|
NM_000257.4(MYH7):c.160C>T (p.Arg54Ter)
|
rs761841748
|
0.00001
|
NM_000257.4(MYH7):c.1630A>G (p.Thr544Ala)
|
rs397516119
|
0.00001
|
NM_000257.4(MYH7):c.1633G>A (p.Asp545Asn)
|
rs564101364
|
0.00001
|
NM_000257.4(MYH7):c.1678T>A (p.Ser560Thr)
|
rs1892754005
|
0.00001
|
NM_000257.4(MYH7):c.1681G>A (p.Ala561Thr)
|
rs730880878
|
0.00001
|
NM_000257.4(MYH7):c.1684A>G (p.Asn562Asp)
|
rs397516118
|
0.00001
|
NM_000257.4(MYH7):c.1699C>T (p.Arg567Cys)
|
rs771771163
|
0.00001
|
NM_000257.4(MYH7):c.1756G>A (p.Val586Met)
|
rs754465530
|
0.00001
|
NM_000257.4(MYH7):c.1772T>C (p.Ile591Thr)
|
rs775089432
|
0.00001
|
NM_000257.4(MYH7):c.184G>A (p.Glu62Lys)
|
rs727504416
|
0.00001
|
NM_000257.4(MYH7):c.1886C>T (p.Ala629Val)
|
rs140824103
|
0.00001
|
NM_000257.4(MYH7):c.1903A>T (p.Lys635Ter)
|
rs1430156584
|
0.00001
|
NM_000257.4(MYH7):c.2039C>T (p.Ser680Phe)
|
rs1175481910
|
0.00001
|
NM_000257.4(MYH7):c.2044+4A>G
|
rs780521910
|
0.00001
|
NM_000257.4(MYH7):c.2060C>A (p.Pro687His)
|
rs747382784
|
0.00001
|
NM_000257.4(MYH7):c.2137A>G (p.Ile713Val)
|
rs1339799654
|
0.00001
|
NM_000257.4(MYH7):c.2286G>A (p.Lys762=)
|
rs958169569
|
0.00001
|
NM_000257.4(MYH7):c.22G>A (p.Val8Ile)
|
rs754388460
|
0.00001
|
NM_000257.4(MYH7):c.2456G>A (p.Arg819Gln)
|
rs773009513
|
0.00001
|
NM_000257.4(MYH7):c.2508C>G (p.Ile836Met)
|
rs772442923
|
0.00001
|
NM_000257.4(MYH7):c.253G>A (p.Asp85Asn)
|
rs770246266
|
0.00001
|
NM_000257.4(MYH7):c.2556G>A (p.Met852Ile)
|
rs1343088568
|
0.00001
|
NM_000257.4(MYH7):c.2570C>T (p.Thr857Ile)
|
rs397516158
|
0.00001
|
NM_000257.4(MYH7):c.2597C>A (p.Ser866Tyr)
|
rs1473607930
|
0.00001
|
NM_000257.4(MYH7):c.2677G>A (p.Ala893Thr)
|
rs750204313
|
0.00001
|
NM_000257.4(MYH7):c.2765T>C (p.Met922Thr)
|
rs771599539
|
0.00001
|
NM_000257.4(MYH7):c.2804A>T (p.Glu935Val)
|
rs730880761
|
0.00001
|
NM_000257.4(MYH7):c.2846A>T (p.Glu949Val)
|
rs397516175
|
0.00001
|
NM_000257.4(MYH7):c.2852A>G (p.Lys951Arg)
|
rs1230261713
|
0.00001
|
NM_000257.4(MYH7):c.2855G>C (p.Arg952Thr)
|
rs1446444428
|
0.00001
|
NM_000257.4(MYH7):c.2908G>A (p.Ala970Thr)
|
rs1446657813
|
0.00001
|
NM_000257.4(MYH7):c.2923-7T>A
|
rs746915271
|
0.00001
|
NM_000257.4(MYH7):c.2973G>T (p.Lys991Asn)
|
rs727504388
|
0.00001
|
NM_000257.4(MYH7):c.2974C>A (p.Leu992Met)
|
rs149840927
|
0.00001
|
NM_000257.4(MYH7):c.2981A>G (p.Lys994Arg)
|
rs1298804415
|
0.00001
|
NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu)
|
rs730880762
|
0.00001
|
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr)
|
rs1159928168
|
0.00001
|
NM_000257.4(MYH7):c.3138G>A (p.Met1046Ile)
|
rs201195256
|
0.00001
|
NM_000257.4(MYH7):c.3147G>A (p.Glu1049=)
|
rs1216521596
|
0.00001
|
NM_000257.4(MYH7):c.3148C>T (p.Arg1050Ter)
|
rs730880767
|
0.00001
|
NM_000257.4(MYH7):c.3152C>T (p.Ala1051Val)
|
rs727504358
|
0.00001
|
NM_000257.4(MYH7):c.3200T>C (p.Met1067Thr)
|
rs763564858
|
0.00001
|
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp)
|
rs192722540
|
0.00001
|
NM_000257.4(MYH7):c.3245+2T>G
|
rs113859723
|
0.00001
|
NM_000257.4(MYH7):c.3245+3A>T
|
rs727505355
|
0.00001
|
NM_000257.4(MYH7):c.3274G>A (p.Ala1092Thr)
|
rs772216320
|
0.00001
|
NM_000257.4(MYH7):c.3341G>A (p.Arg1114His)
|
rs730880773
|
0.00001
|
NM_000257.4(MYH7):c.3407G>A (p.Arg1136His)
|
rs730880905
|
0.00001
|
NM_000257.4(MYH7):c.343T>C (p.Tyr115His)
|
rs397516183
|
0.00001
|
NM_000257.4(MYH7):c.3451G>C (p.Glu1151Gln)
|
rs1370927693
|
0.00001
|
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val)
|
rs397516184
|
0.00001
|
NM_000257.4(MYH7):c.3483C>G (p.Ile1161Met)
|
rs778909719
|
0.00001
|
NM_000257.4(MYH7):c.3500G>A (p.Arg1167His)
|
rs766412659
|
0.00001
|
NM_000257.4(MYH7):c.3589G>A (p.Ala1197Thr)
|
rs1487430775
|
0.00001
|
NM_000257.4(MYH7):c.3598G>A (p.Val1200Met)
|
rs375283149
|
0.00001
|
NM_000257.4(MYH7):c.3701A>C (p.Asn1234Thr)
|
rs745970387
|
0.00001
|
NM_000257.4(MYH7):c.3778C>T (p.Arg1260Trp)
|
rs755386220
|
0.00001
|
NM_000257.4(MYH7):c.3781A>C (p.Ser1261Arg)
|
rs193922389
|
0.00001
|
NM_000257.4(MYH7):c.37G>A (p.Ala13Thr)
|
rs759231966
|
0.00001
|
NM_000257.4(MYH7):c.3801G>C (p.Gln1267His)
|
rs200000290
|
0.00001
|
NM_000257.4(MYH7):c.3828G>C (p.Gln1276His)
|
rs1892377170
|
0.00001
|
NM_000257.4(MYH7):c.3830G>A (p.Arg1277Gln)
|
rs397516195
|
0.00001
|
NM_000257.4(MYH7):c.3856G>A (p.Glu1286Lys)
|
rs397516196
|
0.00001
|
NM_000257.4(MYH7):c.3865C>T (p.Arg1289Trp)
|
rs180824037
|
0.00001
|
NM_000257.4(MYH7):c.3883G>A (p.Glu1295Lys)
|
rs730880785
|
0.00001
|
NM_000257.4(MYH7):c.3975G>A (p.Ala1325=)
|
rs1424491117
|
0.00001
|
NM_000257.4(MYH7):c.3977A>G (p.Lys1326Arg)
|
rs730880786
|
0.00001
|
NM_000257.4(MYH7):c.3994G>A (p.Ala1332Thr)
|
rs397516198
|
0.00001
|
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu)
|
rs397516199
|
0.00001
|
NM_000257.4(MYH7):c.4009C>T (p.Arg1337Trp)
|
rs763326046
|
0.00001
|
NM_000257.4(MYH7):c.4021G>A (p.Asp1341Asn)
|
rs746724436
|
0.00001
|
NM_000257.4(MYH7):c.4023C>A (p.Asp1341Glu)
|
rs775285385
|
0.00001
|
NM_000257.4(MYH7):c.4042G>A (p.Glu1348Lys)
|
rs1275262402
|
0.00001
|
NM_000257.4(MYH7):c.4057G>T (p.Ala1353Ser)
|
rs1892314426
|
0.00001
|
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys)
|
rs45451303
|
0.00001
|
NM_000257.4(MYH7):c.4102G>A (p.Val1368Met)
|
rs771892152
|
0.00001
|
NM_000257.4(MYH7):c.4180G>A (p.Ala1394Thr)
|
rs751075815
|
0.00001
|
NM_000257.4(MYH7):c.4186C>T (p.Arg1396Trp)
|
rs730880793
|
0.00001
|
NM_000257.4(MYH7):c.4213G>A (p.Glu1405Lys)
|
rs1431555615
|
0.00001
|
NM_000257.4(MYH7):c.4219G>A (p.Val1407Ile)
|
rs730880795
|
0.00001
|
NM_000257.4(MYH7):c.4301G>A (p.Arg1434His)
|
rs780625785
|
0.00001
|
NM_000257.4(MYH7):c.4321G>T (p.Ala1441Ser)
|
rs745414245
|
0.00001
|
NM_000257.4(MYH7):c.4343A>T (p.Asn1448Ile)
|
rs753484341
|
0.00001
|
NM_000257.4(MYH7):c.4353+6C>T
|
rs765398896
|
0.00001
|
NM_000257.4(MYH7):c.4354-5G>A
|
rs950409210
|
0.00001
|
NM_000257.4(MYH7):c.4390C>T (p.Gln1464Ter)
|
rs754829218
|
0.00001
|
NM_000257.4(MYH7):c.4394C>T (p.Ser1465Leu)
|
rs1033511138
|
0.00001
|
NM_000257.4(MYH7):c.4459G>A (p.Ala1487Thr)
|
rs766909770
|
0.00001
|
NM_000257.4(MYH7):c.4481A>T (p.His1494Leu)
|
rs727505329
|
0.00001
|
NM_000257.4(MYH7):c.4489A>T (p.Thr1497Ser)
|
rs928227757
|
0.00001
|
NM_000257.4(MYH7):c.4525A>C (p.Ile1509Leu)
|
rs397516221
|
0.00001
|
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter)
|
rs397516225
|
0.00001
|
NM_000257.4(MYH7):c.4606G>A (p.Glu1536Lys)
|
rs779315151
|
0.00001
|
NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln)
|
rs730880806
|
0.00001
|
NM_000257.4(MYH7):c.4717G>A (p.Glu1573Lys)
|
rs750987717
|
0.00001
|
NM_000257.4(MYH7):c.4763G>A (p.Arg1588His)
|
rs797044600
|
0.00001
|
NM_000257.4(MYH7):c.4775G>A (p.Arg1592Gln)
|
rs1257980330
|
0.00001
|
NM_000257.4(MYH7):c.4787C>T (p.Ser1596Leu)
|
rs774540446
|
0.00001
|
NM_000257.4(MYH7):c.4807G>A (p.Ala1603Thr)
|
rs730880809
|
0.00001
|
NM_000257.4(MYH7):c.4816C>T (p.Arg1606Cys)
|
rs200530211
|
0.00001
|
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His)
|
rs373514686
|
0.00001
|
NM_000257.4(MYH7):c.4822C>T (p.Arg1608Cys)
|
rs746571601
|
0.00001
|
NM_000257.4(MYH7):c.4823G>A (p.Arg1608His)
|
rs587779391
|
0.00001
|
NM_000257.4(MYH7):c.4832C>T (p.Ala1611Val)
|
rs757090529
|
0.00001
|
NM_000257.4(MYH7):c.4864C>T (p.Leu1622Phe)
|
rs397516231
|
0.00001
|
NM_000257.4(MYH7):c.493A>G (p.Met165Val)
|
rs730880839
|
0.00001
|
NM_000257.4(MYH7):c.4984C>T (p.Arg1662Cys)
|
rs773977507
|
0.00001
|
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=)
|
rs763538103
|
0.00001
|
NM_000257.4(MYH7):c.5011A>G (p.Ile1671Val)
|
rs1456418703
|
0.00001
|
NM_000257.4(MYH7):c.5014G>A (p.Ala1672Thr)
|
rs550015662
|
0.00001
|
NM_000257.4(MYH7):c.5026C>T (p.Arg1676Trp)
|
rs753115999
|
0.00001
|
NM_000257.4(MYH7):c.5029C>T (p.Arg1677Cys)
|
rs377461670
|
0.00001
|
NM_000257.4(MYH7):c.503-8C>A
|
rs606231313
|
0.00001
|
NM_000257.4(MYH7):c.5030G>A (p.Arg1677His)
|
rs730880914
|
0.00001
|
NM_000257.4(MYH7):c.5065C>T (p.Arg1689Cys)
|
rs730880915
|
0.00001
|
NM_000257.4(MYH7):c.5066G>A (p.Arg1689His)
|
rs772008016
|
0.00001
|
NM_000257.4(MYH7):c.50G>A (p.Arg17His)
|
rs727503280
|
0.00001
|
NM_000257.4(MYH7):c.5120T>C (p.Ile1707Thr)
|
rs730880811
|
0.00001
|
NM_000257.4(MYH7):c.5129G>C (p.Ser1710Thr)
|
rs869279274
|
0.00001
|
NM_000257.4(MYH7):c.5178G>A (p.Gln1726=)
|
rs747252861
|
0.00001
|
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr)
|
rs144066768
|
0.00001
|
NM_000257.4(MYH7):c.5216C>T (p.Thr1739Ile)
|
rs1469341108
|
0.00001
|
NM_000257.4(MYH7):c.5229G>T (p.Glu1743Asp)
|
rs149509691
|
0.00001
|
NM_000257.4(MYH7):c.5251G>A (p.Ala1751Thr)
|
rs1892151210
|
0.00001
|
NM_000257.4(MYH7):c.5272G>T (p.Ala1758Ser)
|
rs878853839
|
0.00001
|
NM_000257.4(MYH7):c.5283+7C>T
|
rs772148835
|
0.00001
|
NM_000257.4(MYH7):c.5293A>G (p.Met1765Val)
|
rs770165807
|
0.00001
|
NM_000257.4(MYH7):c.530+1G>A
|
rs112447523
|
0.00001
|
NM_000257.4(MYH7):c.530C>T (p.Thr177Ile)
|
rs752930302
|
0.00001
|
NM_000257.4(MYH7):c.532G>A (p.Gly178Arg)
|
rs730880156
|
0.00001
|
NM_000257.4(MYH7):c.5341C>T (p.Arg1781Cys)
|
rs397516245
|
0.00001
|
NM_000257.4(MYH7):c.5386C>T (p.Arg1796Trp)
|
rs748598020
|
0.00001
|
NM_000257.4(MYH7):c.5387G>A (p.Arg1796Gln)
|
rs1433063251
|
0.00001
|
NM_000257.4(MYH7):c.541G>A (p.Gly181Arg)
|
rs760187215
|
0.00001
|
NM_000257.4(MYH7):c.5450C>T (p.Ala1817Val)
|
rs1469786429
|
0.00001
|
NM_000257.4(MYH7):c.5500G>A (p.Ala1834Thr)
|
rs143362532
|
0.00001
|
NM_000257.4(MYH7):c.5519T>C (p.Met1840Thr)
|
rs149193520
|
0.00001
|
NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly)
|
rs200157204
|
0.00001
|
NM_000257.4(MYH7):c.5536C>T (p.Arg1846Cys)
|
rs12590294
|
0.00001
|
NM_000257.4(MYH7):c.5559+6A>G
|
rs781124375
|
0.00001
|
NM_000257.4(MYH7):c.5587C>T (p.Arg1863Trp)
|
rs376668612
|
0.00001
|
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln)
|
rs45520836
|
0.00001
|
NM_000257.4(MYH7):c.5606A>G (p.Asp1869Gly)
|
rs730880824
|
0.00001
|
NM_000257.4(MYH7):c.5639G>A (p.Arg1880His)
|
rs867477685
|
0.00001
|
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=)
|
rs753392652
|
0.00001
|
NM_000257.4(MYH7):c.5656-8T>G
|
rs397516251
|
0.00001
|
NM_000257.4(MYH7):c.5671A>G (p.Thr1891Ala)
|
rs1295948508
|
0.00001
|
NM_000257.4(MYH7):c.5687T>G (p.Phe1896Cys)
|
rs778562229
|
0.00001
|
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln)
|
rs397516253
|
0.00001
|
NM_000257.4(MYH7):c.5737G>A (p.Ala1913Thr)
|
rs747451109
|
0.00001
|
NM_000257.4(MYH7):c.5749G>T (p.Val1917Phe)
|
rs397516255
|
0.00001
|
NM_000257.4(MYH7):c.5757G>C (p.Lys1919Asn)
|
rs1343372308
|
0.00001
|
NM_000257.4(MYH7):c.5762G>A (p.Arg1921Gln)
|
rs397516256
|
0.00001
|
NM_000257.4(MYH7):c.5765C>T (p.Ala1922Val)
|
rs777524474
|
0.00001
|
NM_000257.4(MYH7):c.728G>A (p.Arg243His)
|
rs267606910
|
0.00001
|
NM_000257.4(MYH7):c.732+14G>C
|
rs762982193
|
0.00001
|
NM_000257.4(MYH7):c.821T>C (p.Ile274Thr)
|
rs773456019
|
0.00001
|
NM_000257.4(MYH7):c.853A>G (p.Ile285Val)
|
rs748692506
|
0.00001
|
NM_000257.4(MYH7):c.898A>T (p.Met300Leu)
|
rs759998697
|
0.00001
|
NM_000257.4(MYH7):c.969T>G (p.Ile323Met)
|
rs730880861
|
0.00001
|
NM_000258.3(MYL3):c.106G>A (p.Glu36Lys)
|
rs749941468
|
0.00001
|
NM_000258.3(MYL3):c.147G>T (p.Glu49Asp)
|
rs1004231349
|
0.00001
|
NM_000258.3(MYL3):c.178C>G (p.Leu60Val)
|
rs1367233580
|
0.00001
|
NM_000258.3(MYL3):c.188G>A (p.Arg63His)
|
rs139354105
|
0.00001
|
NM_000258.3(MYL3):c.193C>T (p.Pro65Ser)
|
rs730880960
|
0.00001
|
NM_000258.3(MYL3):c.220G>A (p.Gly74Arg)
|
rs730880956
|
0.00001
|
NM_000258.3(MYL3):c.235G>A (p.Val79Ile)
|
rs150634297
|
0.00001
|
NM_000258.3(MYL3):c.241C>T (p.Arg81Trp)
|
rs761891361
|
0.00001
|
NM_000258.3(MYL3):c.26A>G (p.Lys9Arg)
|
rs1025864971
|
0.00001
|
NM_000258.3(MYL3):c.307G>A (p.Glu103Lys)
|
rs1479071663
|
0.00001
|
NM_000258.3(MYL3):c.502G>A (p.Glu168Lys)
|
rs1376871183
|
0.00001
|
NM_000258.3(MYL3):c.517A>G (p.Met173Val)
|
rs199474708
|
0.00001
|
NM_000258.3(MYL3):c.521C>T (p.Ala174Val)
|
rs763216044
|
0.00001
|
NM_000258.3(MYL3):c.557A>C (p.Glu186Ala)
|
rs374329098
|
0.00001
|
NM_000258.3(MYL3):c.560-15T>G
|
rs1041055773
|
0.00001
|
NM_000335.5(SCN5A):c.2314G>A (p.Asp772Asn)
|
rs199473157
|
0.00001
|
NM_000335.5(SCN5A):c.3456G>C (p.Gln1152His)
|
rs776705132
|
0.00001
|
NM_000335.5(SCN5A):c.458C>T (p.Pro153Leu)
|
rs1298498462
|
0.00001
|
NM_000335.5(SCN5A):c.4672A>G (p.Ile1558Val)
|
rs779999584
|
0.00001
|
NM_000363.5(TNNI3):c.146dup (p.Lys50fs)
|
rs1162696593
|
0.00001
|
NM_000363.5(TNNI3):c.150G>A (p.Lys50=)
|
rs730881086
|
0.00001
|
NM_000363.5(TNNI3):c.152C>T (p.Thr51Ile)
|
rs1366283106
|
0.00001
|
NM_000363.5(TNNI3):c.164A>C (p.Gln55Pro)
|
rs775512887
|
0.00001
|
NM_000363.5(TNNI3):c.217G>C (p.Gly73Arg)
|
rs1170054667
|
0.00001
|
NM_000363.5(TNNI3):c.233C>T (p.Thr78Ile)
|
rs786205288
|
0.00001
|
NM_000363.5(TNNI3):c.278T>C (p.Leu93Pro)
|
rs776035548
|
0.00001
|
NM_000363.5(TNNI3):c.307C>T (p.Arg103Cys)
|
rs397516344
|
0.00001
|
NM_000363.5(TNNI3):c.322G>A (p.Asp108Asn)
|
rs766958196
|
0.00001
|
NM_000363.5(TNNI3):c.331A>G (p.Arg111Gly)
|
rs730881088
|
0.00001
|
NM_000363.5(TNNI3):c.34C>T (p.Pro12Ser)
|
rs553214254
|
0.00001
|
NM_000363.5(TNNI3):c.35C>T (p.Pro12Leu)
|
rs768052584
|
0.00001
|
NM_000363.5(TNNI3):c.368C>T (p.Thr123Met)
|
rs397516345
|
0.00001
|
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln)
|
rs727503506
|
0.00001
|
NM_000363.5(TNNI3):c.416T>G (p.Phe139Cys)
|
rs1462112345
|
0.00001
|
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp)
|
rs730881071
|
0.00001
|
NM_000363.5(TNNI3):c.428C>A (p.Thr143Asn)
|
rs397516348
|
0.00001
|
NM_000363.5(TNNI3):c.482C>T (p.Ala161Val)
|
rs753413305
|
0.00001
|
NM_000363.5(TNNI3):c.620A>G (p.Lys207Arg)
|
rs367672692
|
0.00001
|
NM_000366.2(TPM1):c.801C>T (p.Asn267=)
|
rs146470352
|
0.00001
|
NM_000371.4(TTR):c.367C>T (p.Arg123Cys)
|
rs371566010
|
0.00001
|
NM_000432.4(MYL2):c.*3G>A
|
rs530713211
|
0.00001
|
NM_000432.4(MYL2):c.-2C>T
|
rs730880938
|
0.00001
|
NM_000432.4(MYL2):c.101C>T (p.Thr34Ile)
|
rs876657894
|
0.00001
|
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp)
|
rs863225117
|
0.00001
|
NM_000432.4(MYL2):c.142G>A (p.Asp48Asn)
|
rs727504405
|
0.00001
|
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu)
|
rs199474809
|
0.00001
|
NM_000432.4(MYL2):c.206T>C (p.Met69Thr)
|
rs2071674449
|
0.00001
|
NM_000432.4(MYL2):c.221C>T (p.Pro74Leu)
|
rs942467544
|
0.00001
|
NM_000432.4(MYL2):c.257T>C (p.Phe86Ser)
|
rs730880950
|
0.00001
|
NM_000432.4(MYL2):c.28G>A (p.Ala10Thr)
|
rs730880942
|
0.00001
|
NM_000432.4(MYL2):c.31G>A (p.Gly11Arg)
|
rs397516402
|
0.00001
|
NM_000432.4(MYL2):c.34G>T (p.Gly12Cys)
|
rs730880937
|
0.00001
|
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly)
|
rs397516404
|
0.00001
|
NM_000432.4(MYL2):c.4-5C>G
|
rs374870836
|
0.00001
|
NM_000432.4(MYL2):c.413T>A (p.Met138Lys)
|
rs748760581
|
0.00001
|
NM_000432.4(MYL2):c.422C>A (p.Ala141Asp)
|
rs1024307408
|
0.00001
|
NM_000432.4(MYL2):c.472A>G (p.Ile158Val)
|
rs2071648139
|
0.00001
|
NM_001005242.3(PKP2):c.-8C>T
|
rs767539502
|
0.00001
|
NM_001005242.3(PKP2):c.1024T>C (p.Ser342Pro)
|
rs563797120
|
0.00001
|
NM_001005242.3(PKP2):c.1025C>T (p.Ser342Phe)
|
rs1282672078
|
0.00001
|
NM_001005242.3(PKP2):c.1034+5G>A
|
rs1956944743
|
0.00001
|
NM_001005242.3(PKP2):c.1095G>A (p.Met365Ile)
|
rs770333863
|
0.00001
|
NM_001005242.3(PKP2):c.10C>T (p.Pro4Ser)
|
rs1425675043
|
0.00001
|
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys)
|
rs878898365
|
0.00001
|
NM_001005242.3(PKP2):c.1292T>C (p.Leu431Ser)
|
rs143397927
|
0.00001
|
NM_001005242.3(PKP2):c.130A>C (p.Ser44Arg)
|
rs1401769906
|
0.00001
|
NM_001005242.3(PKP2):c.136C>A (p.Arg46Ser)
|
rs764116301
|
0.00001
|
NM_001005242.3(PKP2):c.1379-1983C>G
|
rs377000496
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2033G>A
|
rs757689437
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2051G>A
|
rs1408803372
|
0.00001
|
NM_001005242.3(PKP2):c.1379-2055G>A
|
rs920363668
|
0.00001
|
NM_001005242.3(PKP2):c.1379-5T>C
|
rs189036647
|
0.00001
|
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser)
|
rs374163198
|
0.00001
|
NM_001005242.3(PKP2):c.1420C>A (p.Leu474Ile)
|
rs879168083
|
0.00001
|
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val)
|
rs763749576
|
0.00001
|
NM_001005242.3(PKP2):c.1429A>G (p.Thr477Ala)
|
rs775192286
|
0.00001
|
NM_001005242.3(PKP2):c.1492G>A (p.Asp498Asn)
|
rs879068263
|
0.00001
|
NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp)
|
rs774778142
|
0.00001
|
NM_001005242.3(PKP2):c.1547G>C (p.Gly516Ala)
|
rs1402108604
|
0.00001
|
NM_001005242.3(PKP2):c.1567T>A (p.Ser523Thr)
|
rs753678882
|
0.00001
|
NM_001005242.3(PKP2):c.1574G>A (p.Gly525Asp)
|
rs898915439
|
0.00001
|
NM_001005242.3(PKP2):c.158G>A (p.Ser53Asn)
|
rs776363973
|
0.00001
|
NM_001005242.3(PKP2):c.1604G>A (p.Cys535Tyr)
|
rs1956409874
|
0.00001
|
NM_001005242.3(PKP2):c.1757T>C (p.Ile586Thr)
|
rs397517011
|
0.00001
|
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys)
|
rs1060501183
|
0.00001
|
NM_001005242.3(PKP2):c.1762A>G (p.Ile588Val)
|
rs1169362109
|
0.00001
|
NM_001005242.3(PKP2):c.1794C>A (p.Asn598Lys)
|
rs727503370
|
0.00001
|
NM_001005242.3(PKP2):c.1840-10G>C
|
rs768000598
|
0.00001
|
NM_001005242.3(PKP2):c.1875C>A (p.Ser625Arg)
|
rs1956377686
|
0.00001
|
NM_001005242.3(PKP2):c.1896G>T (p.Trp632Cys)
|
rs193922673
|
0.00001
|
NM_001005242.3(PKP2):c.1916T>C (p.Ile639Thr)
|
rs1956376395
|
0.00001
|
NM_001005242.3(PKP2):c.1920G>T (p.Arg640Ser)
|
rs760660042
|
0.00001
|
NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr)
|
rs759920696
|
0.00001
|
NM_001005242.3(PKP2):c.1958A>G (p.Tyr653Cys)
|
rs778600610
|
0.00001
|
NM_001005242.3(PKP2):c.1989G>T (p.Gln663His)
|
rs765884775
|
0.00001
|
NM_001005242.3(PKP2):c.2013+3G>A
|
rs1222272381
|
0.00001
|
NM_001005242.3(PKP2):c.2014-12C>G
|
rs990954323
|
0.00001
|
NM_001005242.3(PKP2):c.2017C>T (p.Pro673Ser)
|
rs757205704
|
0.00001
|
NM_001005242.3(PKP2):c.2030C>T (p.Ala677Val)
|
rs1359431679
|
0.00001
|
NM_001005242.3(PKP2):c.2071C>G (p.Arg691Gly)
|
rs121434421
|
0.00001
|
NM_001005242.3(PKP2):c.2159A>G (p.Asn720Ser)
|
rs767496004
|
0.00001
|
NM_001005242.3(PKP2):c.224-11C>A
|
rs928408888
|
0.00001
|
NM_001005242.3(PKP2):c.2246C>A (p.Ala749Asp)
|
rs727504950
|
0.00001
|
NM_001005242.3(PKP2):c.2282A>G (p.Asn761Ser)
|
rs1488359220
|
0.00001
|
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg)
|
rs766775778
|
0.00001
|
NM_001005242.3(PKP2):c.2356G>C (p.Ala786Pro)
|
rs768463319
|
0.00001
|
NM_001005242.3(PKP2):c.2358-6T>C
|
rs761613652
|
0.00001
|
NM_001005242.3(PKP2):c.2363C>T (p.Ala788Val)
|
rs763663760
|
0.00001
|
NM_001005242.3(PKP2):c.2411G>C (p.Trp804Ser)
|
rs117425357
|
0.00001
|
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr)
|
rs397517023
|
0.00001
|
NM_001005242.3(PKP2):c.2446-2A>C
|
rs1060501188
|
0.00001
|
NM_001005242.3(PKP2):c.2479C>T (p.Arg827Trp)
|
rs754873048
|
0.00001
|
NM_001005242.3(PKP2):c.301C>T (p.Arg101Cys)
|
rs796827562
|
0.00001
|
NM_001005242.3(PKP2):c.320C>T (p.Thr107Ile)
|
rs749774181
|
0.00001
|
NM_001005242.3(PKP2):c.35A>G (p.Tyr12Cys)
|
rs763433296
|
0.00001
|
NM_001005242.3(PKP2):c.374G>A (p.Arg125Lys)
|
rs1278479150
|
0.00001
|
NM_001005242.3(PKP2):c.409G>A (p.Glu137Lys)
|
rs781739949
|
0.00001
|
NM_001005242.3(PKP2):c.414A>T (p.Glu138Asp)
|
rs771153426
|
0.00001
|
NM_001005242.3(PKP2):c.428A>G (p.His143Arg)
|
rs1448551311
|
0.00001
|
NM_001005242.3(PKP2):c.454C>T (p.Pro152Ser)
|
rs972806409
|
0.00001
|
NM_001005242.3(PKP2):c.462C>G (p.Ser154Arg)
|
rs397517026
|
0.00001
|
NM_001005242.3(PKP2):c.467C>T (p.Pro156Leu)
|
rs766360871
|
0.00001
|
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala)
|
rs765195368
|
0.00001
|
NM_001005242.3(PKP2):c.485C>T (p.Thr162Met)
|
rs759687672
|
0.00001
|
NM_001005242.3(PKP2):c.493G>A (p.Asp165Asn)
|
rs886049322
|
0.00001
|
NM_001005242.3(PKP2):c.542A>C (p.Gln181Pro)
|
rs767358039
|
0.00001
|
NM_001005242.3(PKP2):c.553C>T (p.Arg185Trp)
|
rs571569344
|
0.00001
|
NM_001005242.3(PKP2):c.568G>C (p.Val190Leu)
|
rs772384894
|
0.00001
|
NM_001005242.3(PKP2):c.575C>T (p.Pro192Leu)
|
rs748566573
|
0.00001
|
NM_001005242.3(PKP2):c.598G>A (p.Val200Met)
|
rs369923216
|
0.00001
|
NM_001005242.3(PKP2):c.610C>T (p.Arg204Cys)
|
rs777497296
|
0.00001
|
NM_001005242.3(PKP2):c.688G>A (p.Val230Ile)
|
rs543281875
|
0.00001
|
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu)
|
rs560220280
|
0.00001
|
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn)
|
rs1085307949
|
0.00001
|
NM_001005242.3(PKP2):c.788C>T (p.Thr263Met)
|
rs543758984
|
0.00001
|
NM_001005242.3(PKP2):c.838G>A (p.Val280Ile)
|
rs748148237
|
0.00001
|
NM_001005242.3(PKP2):c.893C>A (p.Thr298Asn)
|
rs753271708
|
0.00001
|
NM_001005242.3(PKP2):c.8C>T (p.Ala3Val)
|
rs1033569962
|
0.00001
|
NM_001005242.3(PKP2):c.931G>C (p.Asp311His)
|
rs1956947554
|
0.00001
|
NM_001005242.3(PKP2):c.941G>A (p.Gly314Glu)
|
rs139903989
|
0.00001
|
NM_001018005.2(TPM1):c.-13C>A
|
rs1257687404
|
0.00001
|
NM_001018005.2(TPM1):c.-7C>A
|
rs370871307
|
0.00001
|
NM_001018005.2(TPM1):c.105G>C (p.Arg35Ser)
|
rs1448738061
|
0.00001
|
NM_001018005.2(TPM1):c.106A>G (p.Ser36Gly)
|
rs1566936237
|
0.00001
|
NM_001018005.2(TPM1):c.114+3C>T
|
rs112677344
|
0.00001
|
NM_001018005.2(TPM1):c.114+4T>C
|
rs745777320
|
0.00001
|
NM_001018005.2(TPM1):c.118G>T (p.Glu40Ter)
|
rs104894501
|
0.00001
|
NM_001018005.2(TPM1):c.272G>A (p.Arg91His)
|
rs1477561695
|
0.00001
|
NM_001018005.2(TPM1):c.314G>A (p.Arg105His)
|
rs773149185
|
0.00001
|
NM_001018005.2(TPM1):c.493-6C>T
|
rs397516374
|
0.00001
|
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val)
|
rs397516376
|
0.00001
|
NM_001018005.2(TPM1):c.564-9A>G
|
rs755689022
|
0.00001
|
NM_001018005.2(TPM1):c.630G>T (p.Gln210His)
|
rs761816813
|
0.00001
|
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr)
|
rs397516382
|
0.00001
|
NM_001018005.2(TPM1):c.673A>G (p.Ile225Val)
|
rs193922410
|
0.00001
|
NM_001018005.2(TPM1):c.774C>T (p.Asp258=)
|
rs762282433
|
0.00001
|
NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn)
|
rs397516391
|
0.00001
|
NM_001018005.2(TPM1):c.82G>C (p.Asp28His)
|
rs397516391
|
0.00001
|
NM_001018005.2(TPM1):c.838G>A (p.Asp280Asn)
|
rs777635889
|
0.00001
|
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val)
|
rs199476322
|
0.00001
|
NM_001018005.2(TPM1):c.852-4G>A
|
rs374970923
|
0.00001
|
NM_001018005.2(TPM1):c.852-7C>G
|
rs370475599
|
0.00001
|
NM_001035.3(RYR2):c.-10G>A
|
rs1248591116
|
0.00001
|
NM_001035.3(RYR2):c.-15A>G
|
rs772056240
|
0.00001
|
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe)
|
rs377712921
|
0.00001
|
NM_001035.3(RYR2):c.10189C>T (p.Arg3397Cys)
|
rs764084155
|
0.00001
|
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His)
|
rs368064371
|
0.00001
|
NM_001035.3(RYR2):c.10361G>A (p.Arg3454His)
|
rs1229045575
|
0.00001
|
NM_001035.3(RYR2):c.10370A>C (p.Asp3457Ala)
|
rs544496844
|
0.00001
|
NM_001035.3(RYR2):c.1043G>A (p.Gly348Asp)
|
rs747138259
|
0.00001
|
NM_001035.3(RYR2):c.10529G>A (p.Arg3510His)
|
rs375947003
|
0.00001
|
NM_001035.3(RYR2):c.10529G>T (p.Arg3510Leu)
|
rs375947003
|
0.00001
|
NM_001035.3(RYR2):c.10622C>A (p.Thr3541Asn)
|
rs1169415432
|
0.00001
|
NM_001035.3(RYR2):c.10681C>G (p.Leu3561Val)
|
rs1022428392
|
0.00001
|
NM_001035.3(RYR2):c.1078G>A (p.Val360Ile)
|
rs773628016
|
0.00001
|
NM_001035.3(RYR2):c.10790G>A (p.Arg3597Lys)
|
rs757494145
|
0.00001
|
NM_001035.3(RYR2):c.10816G>A (p.Ala3606Thr)
|
rs772511386
|
0.00001
|
NM_001035.3(RYR2):c.1088T>C (p.Ile363Thr)
|
rs1360751290
|
0.00001
|
NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys)
|
rs748501600
|
0.00001
|
NM_001035.3(RYR2):c.10973C>G (p.Thr3658Ser)
|
rs766499417
|
0.00001
|
NM_001035.3(RYR2):c.10975A>G (p.Lys3659Glu)
|
rs184527312
|
0.00001
|
NM_001035.3(RYR2):c.10982T>C (p.Val3661Ala)
|
rs1163500187
|
0.00001
|
NM_001035.3(RYR2):c.11040-14C>G
|
rs1398488595
|
0.00001
|
NM_001035.3(RYR2):c.11065A>G (p.Met3689Val)
|
rs1215940793
|
0.00001
|
NM_001035.3(RYR2):c.11092-3C>A
|
rs1349755343
|
0.00001
|
NM_001035.3(RYR2):c.11111A>G (p.Asp3704Gly)
|
rs1334028810
|
0.00001
|
NM_001035.3(RYR2):c.11119G>A (p.Gly3707Ser)
|
rs1262001748
|
0.00001
|
NM_001035.3(RYR2):c.11158G>C (p.Glu3720Gln)
|
rs770241781
|
0.00001
|
NM_001035.3(RYR2):c.11201G>A (p.Arg3734His)
|
rs1366611409
|
0.00001
|
NM_001035.3(RYR2):c.11207C>T (p.Ala3736Val)
|
rs1209754420
|
0.00001
|
NM_001035.3(RYR2):c.11252C>G (p.Thr3751Ser)
|
rs772768256
|
0.00001
|
NM_001035.3(RYR2):c.11266G>A (p.Ala3756Thr)
|
rs942942966
|
0.00001
|
NM_001035.3(RYR2):c.112G>T (p.Ala38Ser)
|
rs747977592
|
0.00001
|
NM_001035.3(RYR2):c.11351A>G (p.Lys3784Arg)
|
rs1382429252
|
0.00001
|
NM_001035.3(RYR2):c.11485G>A (p.Val3829Ile)
|
rs886524806
|
0.00001
|
NM_001035.3(RYR2):c.11552A>G (p.Asn3851Ser)
|
rs967116157
|
0.00001
|
NM_001035.3(RYR2):c.1159A>C (p.Ile387Leu)
|
rs748169418
|
0.00001
|
NM_001035.3(RYR2):c.11608A>G (p.Ile3870Val)
|
rs1333353951
|
0.00001
|
NM_001035.3(RYR2):c.11672A>T (p.Tyr3891Phe)
|
rs1430332496
|
0.00001
|
NM_001035.3(RYR2):c.1174A>G (p.Ile392Val)
|
rs574563209
|
0.00001
|
NM_001035.3(RYR2):c.11775+6C>A
|
rs758183625
|
0.00001
|
NM_001035.3(RYR2):c.11839T>C (p.Phe3947Leu)
|
rs1490290877
|
0.00001
|
NM_001035.3(RYR2):c.11894T>C (p.Ile3965Thr)
|
rs1272734214
|
0.00001
|
NM_001035.3(RYR2):c.11981C>T (p.Thr3994Met)
|
rs1488908381
|
0.00001
|
NM_001035.3(RYR2):c.11998G>A (p.Val4000Met)
|
rs773760019
|
0.00001
|
NM_001035.3(RYR2):c.12023A>G (p.Asn4008Ser)
|
rs1330847491
|
0.00001
|
NM_001035.3(RYR2):c.12057G>A (p.Met4019Ile)
|
rs763668006
|
0.00001
|
NM_001035.3(RYR2):c.12192A>C (p.Glu4064Asp)
|
rs1172947190
|
0.00001
|
NM_001035.3(RYR2):c.12210G>A (p.Ala4070=)
|
rs757703714
|
0.00001
|
NM_001035.3(RYR2):c.12217G>A (p.Asp4073Asn)
|
rs768341298
|
0.00001
|
NM_001035.3(RYR2):c.12244G>A (p.Glu4082Lys)
|
rs774241742
|
0.00001
|
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser)
|
rs753850982
|
0.00001
|
NM_001035.3(RYR2):c.12292G>A (p.Val4098Ile)
|
rs1047248475
|
0.00001
|
NM_001035.3(RYR2):c.12298G>A (p.Val4100Ile)
|
rs758785338
|
0.00001
|
NM_001035.3(RYR2):c.12404G>A (p.Arg4135His)
|
rs764202302
|
0.00001
|
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys)
|
rs764698152
|
0.00001
|
NM_001035.3(RYR2):c.12497A>G (p.Lys4166Arg)
|
rs1450189858
|
0.00001
|
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp)
|
rs190140598
|
0.00001
|
NM_001035.3(RYR2):c.12639G>C (p.Glu4213Asp)
|
rs1695374375
|
0.00001
|
NM_001035.3(RYR2):c.12660A>C (p.Glu4220Asp)
|
rs1323430299
|
0.00001
|
NM_001035.3(RYR2):c.12684G>T (p.Glu4228Asp)
|
rs776421571
|
0.00001
|
NM_001035.3(RYR2):c.12692C>T (p.Pro4231Leu)
|
rs1321340277
|
0.00001
|
NM_001035.3(RYR2):c.12700G>A (p.Ala4234Thr)
|
rs773317989
|
0.00001
|
NM_001035.3(RYR2):c.1272C>G (p.Phe424Leu)
|
rs767394797
|
0.00001
|
NM_001035.3(RYR2):c.12770G>A (p.Arg4257Gln)
|
rs371396204
|
0.00001
|
NM_001035.3(RYR2):c.1284A>T (p.Arg428Ser)
|
rs777771262
|
0.00001
|
NM_001035.3(RYR2):c.12920G>A (p.Arg4307His)
|
rs769146715
|
0.00001
|
NM_001035.3(RYR2):c.12958G>A (p.Glu4320Lys)
|
rs1409819668
|
0.00001
|
NM_001035.3(RYR2):c.13061T>G (p.Leu4354Arg)
|
rs1361307283
|
0.00001
|
NM_001035.3(RYR2):c.13070C>T (p.Ala4357Val)
|
rs1695412913
|
0.00001
|
NM_001035.3(RYR2):c.13079C>T (p.Ser4360Phe)
|
rs982384666
|
0.00001
|
NM_001035.3(RYR2):c.13088T>C (p.Leu4363Pro)
|
rs762239413
|
0.00001
|
NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn)
|
rs372880584
|
0.00001
|
NM_001035.3(RYR2):c.13112A>G (p.Glu4371Gly)
|
rs1695416603
|
0.00001
|
NM_001035.3(RYR2):c.13160A>G (p.Glu4387Gly)
|
rs1190034895
|
0.00001
|
NM_001035.3(RYR2):c.13216A>T (p.Met4406Leu)
|
rs1328615953
|
0.00001
|
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn)
|
rs755585430
|
0.00001
|
NM_001035.3(RYR2):c.13252A>G (p.Lys4418Glu)
|
rs1029442866
|
0.00001
|
NM_001035.3(RYR2):c.13301A>C (p.Glu4434Ala)
|
rs771286329
|
0.00001
|
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=)
|
rs768161152
|
0.00001
|
NM_001035.3(RYR2):c.13328+3A>G
|
rs776115513
|
0.00001
|
NM_001035.3(RYR2):c.13351G>A (p.Glu4451Lys)
|
rs780734342
|
0.00001
|
NM_001035.3(RYR2):c.13370A>G (p.Lys4457Arg)
|
rs747584325
|
0.00001
|
NM_001035.3(RYR2):c.13379A>G (p.Gln4460Arg)
|
rs762879895
|
0.00001
|
NM_001035.3(RYR2):c.13399A>G (p.Thr4467Ala)
|
rs774270919
|
0.00001
|
NM_001035.3(RYR2):c.13423G>A (p.Val4475Met)
|
rs1275899087
|
0.00001
|
NM_001035.3(RYR2):c.1343C>T (p.Pro448Leu)
|
rs759603395
|
0.00001
|
NM_001035.3(RYR2):c.13457C>G (p.Ala4486Gly)
|
rs779309213
|
0.00001
|
NM_001035.3(RYR2):c.1345A>G (p.Ile449Val)
|
rs775428443
|
0.00001
|
NM_001035.3(RYR2):c.1346T>G (p.Ile449Arg)
|
rs373331669
|
0.00001
|
NM_001035.3(RYR2):c.13504A>C (p.Met4502Leu)
|
rs876657985
|
0.00001
|
NM_001035.3(RYR2):c.13526T>C (p.Val4509Ala)
|
rs1209033509
|
0.00001
|
NM_001035.3(RYR2):c.13604C>T (p.Thr4535Met)
|
rs756839134
|
0.00001
|
NM_001035.3(RYR2):c.13624G>A (p.Ala4542Thr)
|
rs1296705206
|
0.00001
|
NM_001035.3(RYR2):c.13655A>G (p.His4552Arg)
|
rs768299786
|
0.00001
|
NM_001035.3(RYR2):c.13661T>C (p.Ile4554Thr)
|
rs1234650666
|
0.00001
|
NM_001035.3(RYR2):c.1392C>A (p.His464Gln)
|
rs749032742
|
0.00001
|
NM_001035.3(RYR2):c.13976A>G (p.Glu4659Gly)
|
rs749030677
|
0.00001
|
NM_001035.3(RYR2):c.14024C>A (p.Ala4675Glu)
|
rs1172831046
|
0.00001
|
NM_001035.3(RYR2):c.14041G>A (p.Asp4681Asn)
|
rs1478475074
|
0.00001
|
NM_001035.3(RYR2):c.1405C>T (p.His469Tyr)
|
rs776288769
|
0.00001
|
NM_001035.3(RYR2):c.14098T>G (p.Ser4700Ala)
|
rs766629125
|
0.00001
|
NM_001035.3(RYR2):c.14172G>C (p.Trp4724Cys)
|
rs780752317
|
0.00001
|
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln)
|
rs765389300
|
0.00001
|
NM_001035.3(RYR2):c.1424A>G (p.Lys475Arg)
|
rs750510651
|
0.00001
|
NM_001035.3(RYR2):c.14302G>A (p.Val4768Ile)
|
rs775534249
|
0.00001
|
NM_001035.3(RYR2):c.14369G>A (p.Arg4790Gln)
|
rs750780758
|
0.00001
|
NM_001035.3(RYR2):c.1438C>T (p.Arg480Ter)
|
rs1340830020
|
0.00001
|
NM_001035.3(RYR2):c.1476+5G>A
|
rs778668388
|
0.00001
|
NM_001035.3(RYR2):c.14841G>T (p.Arg4947Ser)
|
rs1252294768
|
0.00001
|
NM_001035.3(RYR2):c.14869T>A (p.Cys4957Ser)
|
rs758500988
|
0.00001
|
NM_001035.3(RYR2):c.14884T>A (p.Tyr4962Asn)
|
rs748937501
|
0.00001
|
NM_001035.3(RYR2):c.1492G>A (p.Val498Met)
|
rs760100468
|
0.00001
|
NM_001035.3(RYR2):c.1504A>G (p.Ile502Val)
|
rs1309242606
|
0.00001
|
NM_001035.3(RYR2):c.1509C>A (p.Asp503Glu)
|
rs764532025
|
0.00001
|
NM_001035.3(RYR2):c.1537C>G (p.His513Asp)
|
rs1230792928
|
0.00001
|
NM_001035.3(RYR2):c.1698A>C (p.Glu566Asp)
|
rs1397154786
|
0.00001
|
NM_001035.3(RYR2):c.1699G>C (p.Ala567Pro)
|
rs753758467
|
0.00001
|
NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu)
|
rs794728724
|
0.00001
|
NM_001035.3(RYR2):c.1828G>T (p.Val610Phe)
|
rs1304783030
|
0.00001
|
NM_001035.3(RYR2):c.1864G>A (p.Gly622Arg)
|
rs376243998
|
0.00001
|
NM_001035.3(RYR2):c.1903A>C (p.Asn635His)
|
rs768241033
|
0.00001
|
NM_001035.3(RYR2):c.1909C>A (p.Leu637Ile)
|
rs1159892117
|
0.00001
|
NM_001035.3(RYR2):c.1963A>T (p.Met655Leu)
|
rs1664091653
|
0.00001
|
NM_001035.3(RYR2):c.1976T>G (p.Ile659Ser)
|
rs753013388
|
0.00001
|
NM_001035.3(RYR2):c.1987G>A (p.Val663Ile)
|
rs374277541
|
0.00001
|
NM_001035.3(RYR2):c.2006A>G (p.Gln669Arg)
|
rs1481345595
|
0.00001
|
NM_001035.3(RYR2):c.2050C>A (p.Pro684Thr)
|
rs1553473182
|
0.00001
|
NM_001035.3(RYR2):c.2081G>A (p.Arg694Gln)
|
rs190787113
|
0.00001
|
NM_001035.3(RYR2):c.2101G>A (p.Glu701Lys)
|
rs748762074
|
0.00001
|
NM_001035.3(RYR2):c.2125G>T (p.Gly709Trp)
|
rs775143324
|
0.00001
|
NM_001035.3(RYR2):c.2146A>G (p.Asn716Asp)
|
rs1395171532
|
0.00001
|
NM_001035.3(RYR2):c.2174A>G (p.Tyr725Cys)
|
rs776700027
|
0.00001
|
NM_001035.3(RYR2):c.2203+3_2203+4dup
|
rs730880376
|
0.00001
|
NM_001035.3(RYR2):c.2215C>T (p.Arg739Cys)
|
rs1170501862
|
0.00001
|
NM_001035.3(RYR2):c.2216G>A (p.Arg739His)
|
rs955065308
|
0.00001
|
NM_001035.3(RYR2):c.226C>T (p.Arg76Trp)
|
rs542777295
|
0.00001
|
NM_001035.3(RYR2):c.2275T>A (p.Leu759Ile)
|
rs768063536
|
0.00001
|
NM_001035.3(RYR2):c.2294G>A (p.Ser765Asn)
|
rs764934687
|
0.00001
|
NM_001035.3(RYR2):c.2306G>A (p.Arg769Gln)
|
rs754901791
|
0.00001
|
NM_001035.3(RYR2):c.2350A>T (p.Ile784Phe)
|
rs794728729
|
0.00001
|
NM_001035.3(RYR2):c.2356G>A (p.Gly786Ser)
|
rs1664560589
|
0.00001
|
NM_001035.3(RYR2):c.2394A>G (p.Ile798Met)
|
rs192876953
|
0.00001
|
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu)
|
rs371157868
|
0.00001
|
NM_001035.3(RYR2):c.2420G>A (p.Arg807Gln)
|
rs753611255
|
0.00001
|
NM_001035.3(RYR2):c.2423A>G (p.His808Arg)
|
rs757443712
|
0.00001
|
NM_001035.3(RYR2):c.2513G>A (p.Arg838Gln)
|
rs764043352
|
0.00001
|
NM_001035.3(RYR2):c.2603A>G (p.Asp868Gly)
|
rs1272250863
|
0.00001
|
NM_001035.3(RYR2):c.2642T>G (p.Ile881Arg)
|
rs762792701
|
0.00001
|
NM_001035.3(RYR2):c.2650A>G (p.Lys884Glu)
|
rs767642846
|
0.00001
|
NM_001035.3(RYR2):c.2656G>C (p.Ala886Pro)
|
rs752663219
|
0.00001
|
NM_001035.3(RYR2):c.2663A>G (p.Asn888Ser)
|
rs1289969599
|
0.00001
|
NM_001035.3(RYR2):c.2719-4T>A
|
rs397516523
|
0.00001
|
NM_001035.3(RYR2):c.284T>A (p.Val95Glu)
|
rs900519025
|
0.00001
|
NM_001035.3(RYR2):c.2945A>G (p.Asp982Gly)
|
rs1461569961
|
0.00001
|
NM_001035.3(RYR2):c.2957T>A (p.Ile986Asn)
|
rs1670049700
|
0.00001
|
NM_001035.3(RYR2):c.2960A>C (p.Lys987Thr)
|
rs1294571823
|
0.00001
|
NM_001035.3(RYR2):c.2969C>T (p.Pro990Leu)
|
rs912594681
|
0.00001
|
NM_001035.3(RYR2):c.2978A>G (p.Glu993Gly)
|
rs760019189
|
0.00001
|
NM_001035.3(RYR2):c.3026G>A (p.Arg1009Gln)
|
rs754812132
|
0.00001
|
NM_001035.3(RYR2):c.3037C>T (p.Arg1013Trp)
|
rs777740439
|
0.00001
|
NM_001035.3(RYR2):c.3070G>T (p.Val1024Leu)
|
rs1291873158
|
0.00001
|
NM_001035.3(RYR2):c.3089C>T (p.Pro1030Leu)
|
rs1404965456
|
0.00001
|
NM_001035.3(RYR2):c.3167C>T (p.Thr1056Met)
|
rs779146564
|
0.00001
|
NM_001035.3(RYR2):c.3220A>G (p.Arg1074Gly)
|
rs1559038380
|
0.00001
|
NM_001035.3(RYR2):c.3226G>A (p.Glu1076Lys)
|
rs781547572
|
0.00001
|
NM_001035.3(RYR2):c.3244G>A (p.Gly1082Arg)
|
rs774797663
|
0.00001
|
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)
|
rs730880191
|
0.00001
|
NM_001035.3(RYR2):c.3295G>A (p.Gly1099Arg)
|
rs767849564
|
0.00001
|
NM_001035.3(RYR2):c.3400G>T (p.Ala1134Ser)
|
rs886046265
|
0.00001
|
NM_001035.3(RYR2):c.3478G>A (p.Asp1160Asn)
|
rs1064794172
|
0.00001
|
NM_001035.3(RYR2):c.3514A>T (p.Thr1172Ser)
|
rs760782284
|
0.00001
|
NM_001035.3(RYR2):c.3517A>G (p.Met1173Val)
|
rs762372863
|
0.00001
|
NM_001035.3(RYR2):c.3622G>A (p.Gly1208Arg)
|
rs770286824
|
0.00001
|
NM_001035.3(RYR2):c.3638G>C (p.Gly1213Ala)
|
rs766838912
|
0.00001
|
NM_001035.3(RYR2):c.365G>A (p.Arg122His)
|
rs727503396
|
0.00001
|
NM_001035.3(RYR2):c.3707A>G (p.Tyr1236Cys)
|
rs1421115838
|
0.00001
|
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu)
|
rs773915323
|
0.00001
|
NM_001035.3(RYR2):c.3839C>T (p.Ser1280Phe)
|
rs759424061
|
0.00001
|
NM_001035.3(RYR2):c.3890C>T (p.Thr1297Ile)
|
rs746350036
|
0.00001
|
NM_001035.3(RYR2):c.3894T>G (p.Asp1298Glu)
|
rs1383564773
|
0.00001
|
NM_001035.3(RYR2):c.3898A>C (p.Met1300Leu)
|
rs769384124
|
0.00001
|
NM_001035.3(RYR2):c.3920C>T (p.Pro1307Leu)
|
rs1412253468
|
0.00001
|
NM_001035.3(RYR2):c.3931G>A (p.Ala1311Thr)
|
rs368635274
|
0.00001
|
NM_001035.3(RYR2):c.3955G>A (p.Ala1319Thr)
|
rs376526841
|
0.00001
|
NM_001035.3(RYR2):c.3973G>C (p.Ala1325Pro)
|
rs1043523829
|
0.00001
|
NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys)
|
rs765369749
|
0.00001
|
NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg)
|
rs193922625
|
0.00001
|
NM_001035.3(RYR2):c.4078G>A (p.Asp1360Asn)
|
rs1274140033
|
0.00001
|
NM_001035.3(RYR2):c.4097C>A (p.Thr1366Asn)
|
rs531412940
|
0.00001
|
NM_001035.3(RYR2):c.409C>T (p.Arg137Trp)
|
rs761916230
|
0.00001
|
NM_001035.3(RYR2):c.4121A>G (p.Lys1374Arg)
|
rs1675089718
|
0.00001
|
NM_001035.3(RYR2):c.412T>G (p.Ser138Ala)
|
rs765875891
|
0.00001
|
NM_001035.3(RYR2):c.4171A>G (p.Arg1391Gly)
|
rs371561223
|
0.00001
|
NM_001035.3(RYR2):c.4241G>A (p.Arg1414Gln)
|
rs727504850
|
0.00001
|
NM_001035.3(RYR2):c.4250A>G (p.Tyr1417Cys)
|
rs777557037
|
0.00001
|
NM_001035.3(RYR2):c.4274C>T (p.Thr1425Met)
|
rs761181641
|
0.00001
|
NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu)
|
rs769163639
|
0.00001
|
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys)
|
rs764144130
|
0.00001
|
NM_001035.3(RYR2):c.4444C>T (p.Arg1482Cys)
|
rs564869863
|
0.00001
|
NM_001035.3(RYR2):c.4457A>G (p.Tyr1486Cys)
|
rs1353376223
|
0.00001
|
NM_001035.3(RYR2):c.4499G>A (p.Arg1500His)
|
rs749719028
|
0.00001
|
NM_001035.3(RYR2):c.4538C>T (p.Ala1513Val)
|
rs895086218
|
0.00001
|
NM_001035.3(RYR2):c.4585A>C (p.Thr1529Pro)
|
rs765195072
|
0.00001
|
NM_001035.3(RYR2):c.463+6C>T
|
rs397516533
|
0.00001
|
NM_001035.3(RYR2):c.4666G>A (p.Glu1556Lys)
|
rs1048532590
|
0.00001
|
NM_001035.3(RYR2):c.4700C>T (p.Ser1567Leu)
|
rs772008541
|
0.00001
|
NM_001035.3(RYR2):c.4723C>T (p.His1575Tyr)
|
rs397516535
|
0.00001
|
NM_001035.3(RYR2):c.4753C>T (p.Arg1585Cys)
|
rs528206995
|
0.00001
|
NM_001035.3(RYR2):c.4780G>A (p.Val1594Ile)
|
rs794728737
|
0.00001
|
NM_001035.3(RYR2):c.4793G>A (p.Arg1598Lys)
|
rs1056392680
|
0.00001
|
NM_001035.3(RYR2):c.4831A>G (p.Ile1611Val)
|
rs755572625
|
0.00001
|
NM_001035.3(RYR2):c.4840C>T (p.Arg1614Cys)
|
rs373079767
|
0.00001
|
NM_001035.3(RYR2):c.4841G>A (p.Arg1614His)
|
rs746943081
|
0.00001
|
NM_001035.3(RYR2):c.4846G>A (p.Gly1616Ser)
|
rs1414022182
|
0.00001
|
NM_001035.3(RYR2):c.4882A>G (p.Met1628Val)
|
rs757286828
|
0.00001
|
NM_001035.3(RYR2):c.489C>A (p.His163Gln)
|
rs1178843120
|
0.00001
|
NM_001035.3(RYR2):c.4904A>G (p.Glu1635Gly)
|
rs775882877
|
0.00001
|
NM_001035.3(RYR2):c.4915G>A (p.Val1639Ile)
|
rs1477625488
|
0.00001
|
NM_001035.3(RYR2):c.4950G>C (p.Leu1650Phe)
|
rs376251968
|
0.00001
|
NM_001035.3(RYR2):c.4975C>T (p.Arg1659Trp)
|
rs1483097607
|
0.00001
|
NM_001035.3(RYR2):c.5046A>C (p.Glu1682Asp)
|
rs3766870
|
0.00001
|
NM_001035.3(RYR2):c.5056C>T (p.Leu1686Phe)
|
rs752684338
|
0.00001
|
NM_001035.3(RYR2):c.505C>T (p.Arg169Ter)
|
rs749930577
|
0.00001
|
NM_001035.3(RYR2):c.5102G>C (p.Gly1701Ala)
|
rs750602360
|
0.00001
|
NM_001035.3(RYR2):c.5135G>A (p.Ser1712Asn)
|
rs1484043877
|
0.00001
|
NM_001035.3(RYR2):c.5189C>T (p.Thr1730Met)
|
rs745569662
|
0.00001
|
NM_001035.3(RYR2):c.5261G>C (p.Ser1754Thr)
|
rs397516542
|
0.00001
|
NM_001035.3(RYR2):c.5336G>A (p.Ser1779Asn)
|
rs778312204
|
0.00001
|
NM_001035.3(RYR2):c.5363A>C (p.Lys1788Thr)
|
rs779637196
|
0.00001
|
NM_001035.3(RYR2):c.5419C>T (p.Arg1807Trp)
|
rs752863160
|
0.00001
|
NM_001035.3(RYR2):c.5420G>A (p.Arg1807Gln)
|
rs730880192
|
0.00001
|
NM_001035.3(RYR2):c.5542C>T (p.Pro1848Ser)
|
rs760731968
|
0.00001
|
NM_001035.3(RYR2):c.5590C>A (p.Leu1864Met)
|
rs1202498329
|
0.00001
|
NM_001035.3(RYR2):c.5645A>G (p.Glu1882Gly)
|
rs376441643
|
0.00001
|
NM_001035.3(RYR2):c.5684A>C (p.Gln1895Pro)
|
rs1468884704
|
0.00001
|
NM_001035.3(RYR2):c.5717T>C (p.Met1906Thr)
|
rs748307254
|
0.00001
|
NM_001035.3(RYR2):c.5750A>G (p.Gln1917Arg)
|
rs777782696
|
0.00001
|
NM_001035.3(RYR2):c.5751G>T (p.Gln1917His)
|
rs1259517167
|
0.00001
|
NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp)
|
rs771469528
|
0.00001
|
NM_001035.3(RYR2):c.5821C>A (p.Arg1941Ser)
|
rs754811291
|
0.00001
|
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu)
|
rs368669045
|
0.00001
|
NM_001035.3(RYR2):c.5916+9A>G
|
rs1002006336
|
0.00001
|
NM_001035.3(RYR2):c.5933A>G (p.Asn1978Ser)
|
rs773006920
|
0.00001
|
NM_001035.3(RYR2):c.5949A>C (p.Lys1983Asn)
|
rs1181887323
|
0.00001
|
NM_001035.3(RYR2):c.5978G>A (p.Arg1993His)
|
rs551362343
|
0.00001
|
NM_001035.3(RYR2):c.6052G>A (p.Asp2018Asn)
|
rs763907565
|
0.00001
|
NM_001035.3(RYR2):c.6054T>G (p.Asp2018Glu)
|
rs1396015766
|
0.00001
|
NM_001035.3(RYR2):c.616G>A (p.Ala206Thr)
|
rs930769080
|
0.00001
|
NM_001035.3(RYR2):c.6203G>A (p.Arg2068Gln)
|
rs869025512
|
0.00001
|
NM_001035.3(RYR2):c.6230A>G (p.Asp2077Gly)
|
rs1415188748
|
0.00001
|
NM_001035.3(RYR2):c.6233C>T (p.Pro2078Leu)
|
rs1158268722
|
0.00001
|
NM_001035.3(RYR2):c.6265C>T (p.His2089Tyr)
|
rs1057524513
|
0.00001
|
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala)
|
rs780707255
|
0.00001
|
NM_001035.3(RYR2):c.6415G>C (p.Glu2139Gln)
|
rs1418995790
|
0.00001
|
NM_001035.3(RYR2):c.6430C>T (p.Arg2144Cys)
|
rs770847446
|
0.00001
|
NM_001035.3(RYR2):c.6431G>A (p.Arg2144His)
|
rs1243083109
|
0.00001
|
NM_001035.3(RYR2):c.6519G>T (p.Glu2173Asp)
|
rs368920731
|
0.00001
|
NM_001035.3(RYR2):c.6779C>T (p.Pro2260Leu)
|
rs746319435
|
0.00001
|
NM_001035.3(RYR2):c.6799C>T (p.Arg2267Cys)
|
rs554220274
|
0.00001
|
NM_001035.3(RYR2):c.6849G>C (p.Lys2283Asn)
|
rs1558114884
|
0.00001
|
NM_001035.3(RYR2):c.6952A>G (p.Asn2318Asp)
|
rs1006334960
|
0.00001
|
NM_001035.3(RYR2):c.6976C>T (p.Arg2326Trp)
|
rs1207293121
|
0.00001
|
NM_001035.3(RYR2):c.7040T>C (p.Met2347Thr)
|
rs1177415020
|
0.00001
|
NM_001035.3(RYR2):c.7055A>G (p.Lys2352Arg)
|
rs1378161090
|
0.00001
|
NM_001035.3(RYR2):c.7097G>A (p.Ser2366Asn)
|
rs1390457488
|
0.00001
|
NM_001035.3(RYR2):c.7117G>T (p.Asp2373Tyr)
|
rs397516548
|
0.00001
|
NM_001035.3(RYR2):c.7234G>A (p.Gly2412Arg)
|
rs550534270
|
0.00001
|
NM_001035.3(RYR2):c.7363G>A (p.Asp2455Asn)
|
rs956994660
|
0.00001
|
NM_001035.3(RYR2):c.7373C>T (p.Ala2458Val)
|
rs768478443
|
0.00001
|
NM_001035.3(RYR2):c.737C>T (p.Thr246Ile)
|
rs757478498
|
0.00001
|
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=)
|
rs759314800
|
0.00001
|
NM_001035.3(RYR2):c.7528A>G (p.Thr2510Ala)
|
rs777279244
|
0.00001
|
NM_001035.3(RYR2):c.7529C>T (p.Thr2510Ile)
|
rs748865411
|
0.00001
|
NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile)
|
rs934248102
|
0.00001
|
NM_001035.3(RYR2):c.7658A>G (p.Tyr2553Cys)
|
rs1358268703
|
0.00001
|
NM_001035.3(RYR2):c.769C>T (p.Arg257Trp)
|
rs750477551
|
0.00001
|
NM_001035.3(RYR2):c.7750A>G (p.Met2584Val)
|
rs772541555
|
0.00001
|
NM_001035.3(RYR2):c.7955T>A (p.Leu2652Gln)
|
rs748531950
|
0.00001
|
NM_001035.3(RYR2):c.796G>A (p.Ala266Thr)
|
rs373326624
|
0.00001
|
NM_001035.3(RYR2):c.8027T>C (p.Leu2676Ser)
|
rs1338788038
|
0.00001
|
NM_001035.3(RYR2):c.8059A>T (p.Ser2687Cys)
|
rs1457097150
|
0.00001
|
NM_001035.3(RYR2):c.8063T>A (p.Met2688Lys)
|
rs1257768473
|
0.00001
|
NM_001035.3(RYR2):c.8065A>G (p.Met2689Val)
|
rs1440224644
|
0.00001
|
NM_001035.3(RYR2):c.8096G>A (p.Gly2699Glu)
|
rs750180419
|
0.00001
|
NM_001035.3(RYR2):c.8143G>A (p.Glu2715Lys)
|
rs756472432
|
0.00001
|
NM_001035.3(RYR2):c.8228A>G (p.Tyr2743Cys)
|
rs368952500
|
0.00001
|
NM_001035.3(RYR2):c.8269A>G (p.Met2757Val)
|
rs376015452
|
0.00001
|
NM_001035.3(RYR2):c.8291C>G (p.Ser2764Cys)
|
rs769728229
|
0.00001
|
NM_001035.3(RYR2):c.8298+5G>A
|
rs773129405
|
0.00001
|
NM_001035.3(RYR2):c.8310T>G (p.Ile2770Met)
|
rs974847063
|
0.00001
|
NM_001035.3(RYR2):c.8363G>A (p.Arg2788Lys)
|
rs1374332710
|
0.00001
|
NM_001035.3(RYR2):c.836C>A (p.Thr279Lys)
|
rs754312807
|
0.00001
|
NM_001035.3(RYR2):c.836C>T (p.Thr279Met)
|
rs754312807
|
0.00001
|
NM_001035.3(RYR2):c.8377C>T (p.Arg2793Trp)
|
rs373172640
|
0.00001
|
NM_001035.3(RYR2):c.8392A>T (p.Met2798Leu)
|
rs1275797500
|
0.00001
|
NM_001035.3(RYR2):c.8410A>T (p.Thr2804Ser)
|
rs1192280862
|
0.00001
|
NM_001035.3(RYR2):c.8414G>A (p.Arg2805His)
|
rs1247067433
|
0.00001
|
NM_001035.3(RYR2):c.8450C>T (p.Ala2817Val)
|
rs765782802
|
0.00001
|
NM_001035.3(RYR2):c.848+1G>A
|
rs772984053
|
0.00001
|
NM_001035.3(RYR2):c.848C>T (p.Ala283Val)
|
rs1163526442
|
0.00001
|
NM_001035.3(RYR2):c.8621A>G (p.Tyr2874Cys)
|
rs1481998485
|
0.00001
|
NM_001035.3(RYR2):c.865A>G (p.Ile289Val)
|
rs767673456
|
0.00001
|
NM_001035.3(RYR2):c.8681A>G (p.Lys2894Arg)
|
rs1374749880
|
0.00001
|
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=)
|
rs762521873
|
0.00001
|
NM_001035.3(RYR2):c.8791C>T (p.Arg2931Cys)
|
rs777983238
|
0.00001
|
NM_001035.3(RYR2):c.881C>T (p.Pro294Leu)
|
rs750542606
|
0.00001
|
NM_001035.3(RYR2):c.8896-9T>C
|
rs773401697
|
0.00001
|
NM_001035.3(RYR2):c.8899G>A (p.Val2967Ile)
|
rs751546090
|
0.00001
|
NM_001035.3(RYR2):c.8933A>T (p.His2978Leu)
|
rs767843817
|
0.00001
|
NM_001035.3(RYR2):c.893G>A (p.Arg298His)
|
rs754259295
|
0.00001
|
NM_001035.3(RYR2):c.8968C>T (p.Leu2990Phe)
|
rs746439954
|
0.00001
|
NM_001035.3(RYR2):c.8993A>G (p.Asn2998Ser)
|
rs1243409978
|
0.00001
|
NM_001035.3(RYR2):c.9050A>G (p.His3017Arg)
|
rs777560001
|
0.00001
|
NM_001035.3(RYR2):c.9116C>T (p.Thr3039Ile)
|
rs1175249332
|
0.00001
|
NM_001035.3(RYR2):c.9138G>A (p.Met3046Ile)
|
rs867521152
|
0.00001
|
NM_001035.3(RYR2):c.9284A>G (p.Asn3095Ser)
|
rs778591641
|
0.00001
|
NM_001035.3(RYR2):c.9293C>T (p.Thr3098Ile)
|
rs1227241969
|
0.00001
|
NM_001035.3(RYR2):c.9295G>C (p.Val3099Leu)
|
rs745616771
|
0.00001
|
NM_001035.3(RYR2):c.9329A>C (p.Glu3110Ala)
|
rs1419674808
|
0.00001
|
NM_001035.3(RYR2):c.9338G>A (p.Gly3113Asp)
|
rs770278770
|
0.00001
|
NM_001035.3(RYR2):c.9367+3A>G
|
rs767212566
|
0.00001
|
NM_001035.3(RYR2):c.9399T>G (p.Ile3133Met)
|
rs1688007466
|
0.00001
|
NM_001035.3(RYR2):c.9407G>A (p.Ser3136Asn)
|
rs748194372
|
0.00001
|
NM_001035.3(RYR2):c.9454C>T (p.Arg3152Cys)
|
rs181105904
|
0.00001
|
NM_001035.3(RYR2):c.9506C>T (p.Ala3169Val)
|
rs1411593172
|
0.00001
|
NM_001035.3(RYR2):c.95A>C (p.Gln32Pro)
|
rs909314611
|
0.00001
|
NM_001035.3(RYR2):c.9625C>A (p.Pro3209Thr)
|
rs767375014
|
0.00001
|
NM_001035.3(RYR2):c.9626C>T (p.Pro3209Leu)
|
rs956317332
|
0.00001
|
NM_001035.3(RYR2):c.9667G>A (p.Glu3223Lys)
|
rs556291797
|
0.00001
|
NM_001035.3(RYR2):c.9679C>T (p.Arg3227Cys)
|
rs747271394
|
0.00001
|
NM_001035.3(RYR2):c.9680G>A (p.Arg3227His)
|
rs755897867
|
0.00001
|
NM_001035.3(RYR2):c.9691A>G (p.Met3231Val)
|
rs374899980
|
0.00001
|
NM_001035.3(RYR2):c.9692T>C (p.Met3231Thr)
|
rs1472732790
|
0.00001
|
NM_001035.3(RYR2):c.9703A>G (p.Met3235Val)
|
rs773957909
|
0.00001
|
NM_001035.3(RYR2):c.9742C>T (p.Arg3248Cys)
|
rs1290534109
|
0.00001
|
NM_001035.3(RYR2):c.9772C>T (p.Pro3258Ser)
|
rs368028300
|
0.00001
|
NM_001035.3(RYR2):c.9778C>T (p.Arg3260Trp)
|
rs765325906
|
0.00001
|
NM_001035.3(RYR2):c.9779G>A (p.Arg3260Gln)
|
rs750415021
|
0.00001
|
NM_001035.3(RYR2):c.9817A>G (p.Met3273Val)
|
rs1365049763
|
0.00001
|
NM_001035.3(RYR2):c.9911A>G (p.Gln3304Arg)
|
rs794728766
|
0.00001
|
NM_001035.3(RYR2):c.994C>T (p.Arg332Trp)
|
rs876657995
|
0.00001
|
NM_001035.3(RYR2):c.9962C>T (p.Pro3321Leu)
|
rs747933306
|
0.00001
|
NM_001103.4(ACTN2):c.*10T>C
|
rs991306355
|
0.00001
|
NM_001103.4(ACTN2):c.1099A>G (p.Met367Val)
|
rs771923322
|
0.00001
|
NM_001103.4(ACTN2):c.1107+3G>A
|
rs764249491
|
0.00001
|
NM_001103.4(ACTN2):c.1181G>A (p.Arg394Gln)
|
rs758358941
|
0.00001
|
NM_001103.4(ACTN2):c.1325G>A (p.Arg442Gln)
|
rs776947613
|
0.00001
|
NM_001103.4(ACTN2):c.1355C>G (p.Ala452Gly)
|
rs201875003
|
0.00001
|
NM_001103.4(ACTN2):c.1549C>T (p.Leu517Phe)
|
rs759778745
|
0.00001
|
NM_001103.4(ACTN2):c.1624A>G (p.Met542Val)
|
rs770807444
|
0.00001
|
NM_001103.4(ACTN2):c.1657-9C>T
|
rs777367297
|
0.00001
|
NM_001103.4(ACTN2):c.1726A>G (p.Met576Val)
|
rs764719024
|
0.00001
|
NM_001103.4(ACTN2):c.19G>A (p.Gly7Ser)
|
rs1057523721
|
0.00001
|
NM_001103.4(ACTN2):c.2609C>T (p.Ser870Leu)
|
rs368754823
|
0.00001
|
NM_001103.4(ACTN2):c.2644G>A (p.Ala882Thr)
|
rs747843638
|
0.00001
|
NM_001103.4(ACTN2):c.440C>T (p.Ser147Leu)
|
rs749667083
|
0.00001
|
NM_001103.4(ACTN2):c.449-3C>T
|
rs1247389339
|
0.00001
|
NM_001103.4(ACTN2):c.581G>A (p.Arg194Gln)
|
rs528123945
|
0.00001
|
NM_001103.4(ACTN2):c.616-3C>T
|
rs111464645
|
0.00001
|
NM_001103.4(ACTN2):c.775G>A (p.Ala259Thr)
|
rs574401232
|
0.00001
|
NM_001103.4(ACTN2):c.959T>G (p.Leu320Arg)
|
rs1407369744
|
0.00001
|
NM_001103.4(ACTN2):c.982C>T (p.Arg328Trp)
|
rs770855273
|
0.00001
|
NM_001105206.3(LAMA4):c.1455G>T (p.Leu485Phe)
|
rs782305599
|
0.00001
|
NM_001105206.3(LAMA4):c.1726C>G (p.Leu576Val)
|
rs782074007
|
0.00001
|
NM_001105206.3(LAMA4):c.2195G>A (p.Gly732Glu)
|
rs781889038
|
0.00001
|
NM_001105206.3(LAMA4):c.2762C>A (p.Ser921Tyr)
|
rs782424587
|
0.00001
|
NM_001105206.3(LAMA4):c.4111A>C (p.Ile1371Leu)
|
rs974775253
|
0.00001
|
NM_001105206.3(LAMA4):c.837C>T (p.Asp279=)
|
rs782335744
|
0.00001
|
NM_001134363.3(RBM20):c.1400C>G (p.Thr467Arg)
|
rs775062085
|
0.00001
|
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg)
|
rs774916799
|
0.00001
|
NM_001134363.3(RBM20):c.1742T>A (p.Ile581Asn)
|
rs1444950975
|
0.00001
|
NM_001134363.3(RBM20):c.2069C>T (p.Pro690Leu)
|
rs550942448
|
0.00001
|
NM_001134363.3(RBM20):c.2108G>A (p.Arg703Lys)
|
rs397516600
|
0.00001
|
NM_001134363.3(RBM20):c.2131C>T (p.Arg711Cys)
|
rs750763255
|
0.00001
|
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys)
|
rs866975469
|
0.00001
|
NM_001134363.3(RBM20):c.3655G>A (p.Val1219Met)
|
rs374875207
|
0.00001
|
NM_001134363.3(RBM20):c.3662G>A (p.Arg1221His)
|
rs1421547378
|
0.00001
|
NM_001134363.3(RBM20):c.485C>T (p.Thr162Ile)
|
rs1214311876
|
0.00001
|
NM_001134363.3(RBM20):c.536G>A (p.Gly179Asp)
|
rs727504943
|
0.00001
|
NM_001134363.3(RBM20):c.762G>A (p.Ser254=)
|
rs1175327119
|
0.00001
|
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly)
|
rs200899037
|
0.00001
|
NM_001232.4(CASQ2):c.1136A>T (p.Asp379Val)
|
rs940257382
|
0.00001
|
NM_001267550.2(TTN):c.10067C>T (p.Thr3356Ile)
|
rs763323132
|
0.00001
|
NM_001267550.2(TTN):c.102586G>A (p.Val34196Ile)
|
rs1185169765
|
0.00001
|
NM_001267550.2(TTN):c.10303+2T>C
|
rs371596417
|
0.00001
|
NM_001267550.2(TTN):c.103730A>G (p.Gln34577Arg)
|
rs727505009
|
0.00001
|
NM_001267550.2(TTN):c.104168G>T (p.Arg34723Ile)
|
rs794729564
|
0.00001
|
NM_001267550.2(TTN):c.106374+3A>G
|
rs976515961
|
0.00001
|
NM_001267550.2(TTN):c.106914G>C (p.Trp35638Cys)
|
rs758497512
|
0.00001
|
NM_001267550.2(TTN):c.107083A>G (p.Ser35695Gly)
|
rs376475822
|
0.00001
|
NM_001267550.2(TTN):c.107721C>A (p.Ser35907Arg)
|
rs977991321
|
0.00001
|
NM_001267550.2(TTN):c.11282T>C (p.Ile3761Thr)
|
rs758073208
|
0.00001
|
NM_001267550.2(TTN):c.11521G>A (p.Val3841Ile)
|
rs755132807
|
0.00001
|
NM_001267550.2(TTN):c.12175G>T (p.Gly4059Cys)
|
rs377114166
|
0.00001
|
NM_001267550.2(TTN):c.12910T>A (p.Leu4304Met)
|
rs754169563
|
0.00001
|
NM_001267550.2(TTN):c.13509G>T (p.Leu4503Phe)
|
rs370302649
|
0.00001
|
NM_001267550.2(TTN):c.13839G>A (p.Val4613=)
|
rs1307850717
|
0.00001
|
NM_001267550.2(TTN):c.16709C>T (p.Thr5570Ile)
|
rs535319438
|
0.00001
|
NM_001267550.2(TTN):c.16975G>A (p.Glu5659Lys)
|
rs763708860
|
0.00001
|
NM_001267550.2(TTN):c.17189C>T (p.Pro5730Leu)
|
rs779187099
|
0.00001
|
NM_001267550.2(TTN):c.17279C>T (p.Thr5760Met)
|
rs770310501
|
0.00001
|
NM_001267550.2(TTN):c.1911A>C (p.Arg637Ser)
|
rs764146059
|
0.00001
|
NM_001267550.2(TTN):c.20481C>A (p.Asp6827Glu)
|
rs368033114
|
0.00001
|
NM_001267550.2(TTN):c.22414A>G (p.Asn7472Asp)
|
rs1174856533
|
0.00001
|
NM_001267550.2(TTN):c.2275G>A (p.Val759Ile)
|
rs769333723
|
0.00001
|
NM_001267550.2(TTN):c.23317C>T (p.His7773Tyr)
|
rs777185633
|
0.00001
|
NM_001267550.2(TTN):c.24469G>A (p.Gly8157Ser)
|
rs753025964
|
0.00001
|
NM_001267550.2(TTN):c.26030A>G (p.Tyr8677Cys)
|
rs778578388
|
0.00001
|
NM_001267550.2(TTN):c.26440G>T (p.Asp8814Tyr)
|
rs1035364658
|
0.00001
|
NM_001267550.2(TTN):c.26762-9A>G
|
rs200821070
|
0.00001
|
NM_001267550.2(TTN):c.27427G>T (p.Val9143Phe)
|
rs186857044
|
0.00001
|
NM_001267550.2(TTN):c.2836G>A (p.Val946Ile)
|
rs752246051
|
0.00001
|
NM_001267550.2(TTN):c.29252G>T (p.Gly9751Val)
|
rs779884658
|
0.00001
|
NM_001267550.2(TTN):c.29520C>T (p.Arg9840=)
|
rs1297716279
|
0.00001
|
NM_001267550.2(TTN):c.29762T>C (p.Ile9921Thr)
|
rs373651676
|
0.00001
|
NM_001267550.2(TTN):c.30196G>C (p.Glu10066Gln)
|
rs370072382
|
0.00001
|
NM_001267550.2(TTN):c.30443C>T (p.Ser10148Leu)
|
rs766069724
|
0.00001
|
NM_001267550.2(TTN):c.30503C>T (p.Thr10168Met)
|
rs746275042
|
0.00001
|
NM_001267550.2(TTN):c.32243T>C (p.Val10748Ala)
|
rs535089616
|
0.00001
|
NM_001267550.2(TTN):c.32392G>A (p.Val10798Met)
|
rs764015733
|
0.00001
|
NM_001267550.2(TTN):c.33602C>T (p.Pro11201Leu)
|
rs748063760
|
0.00001
|
NM_001267550.2(TTN):c.34435G>C (p.Glu11479Gln)
|
rs1298237270
|
0.00001
|
NM_001267550.2(TTN):c.34453+6del
|
rs764521300
|
0.00001
|
NM_001267550.2(TTN):c.34570C>T (p.Arg11524Ter)
|
rs1441434215
|
0.00001
|
NM_001267550.2(TTN):c.35254C>A (p.Pro11752Thr)
|
rs760509158
|
0.00001
|
NM_001267550.2(TTN):c.35380A>G (p.Thr11794Ala)
|
rs751454643
|
0.00001
|
NM_001267550.2(TTN):c.40931T>C (p.Val13644Ala)
|
rs770248490
|
0.00001
|
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg)
|
rs374085402
|
0.00001
|
NM_001267550.2(TTN):c.43861G>A (p.Asp14621Asn)
|
rs374032491
|
0.00001
|
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter)
|
rs140743001
|
0.00001
|
NM_001267550.2(TTN):c.44815+7A>G
|
rs758417150
|
0.00001
|
NM_001267550.2(TTN):c.45839C>T (p.Ser15280Phe)
|
rs763279178
|
0.00001
|
NM_001267550.2(TTN):c.45890T>C (p.Val15297Ala)
|
rs775158152
|
0.00001
|
NM_001267550.2(TTN):c.48055G>A (p.Glu16019Lys)
|
rs758399903
|
0.00001
|
NM_001267550.2(TTN):c.48289G>A (p.Val16097Ile)
|
rs550894260
|
0.00001
|
NM_001267550.2(TTN):c.48891G>A (p.Met16297Ile)
|
rs754110019
|
0.00001
|
NM_001267550.2(TTN):c.49770G>C (p.Met16590Ile)
|
rs774495753
|
0.00001
|
NM_001267550.2(TTN):c.50268C>T (p.Tyr16756=)
|
rs748836778
|
0.00001
|
NM_001267550.2(TTN):c.50400A>T (p.Lys16800Asn)
|
rs794729239
|
0.00001
|
NM_001267550.2(TTN):c.52409C>A (p.Pro17470Gln)
|
rs372618781
|
0.00001
|
NM_001267550.2(TTN):c.52531G>C (p.Val17511Leu)
|
rs1446269783
|
0.00001
|
NM_001267550.2(TTN):c.55060G>C (p.Glu18354Gln)
|
rs1559697777
|
0.00001
|
NM_001267550.2(TTN):c.55516G>A (p.Asp18506Asn)
|
rs757839460
|
0.00001
|
NM_001267550.2(TTN):c.57848-5C>T
|
rs764245090
|
0.00001
|
NM_001267550.2(TTN):c.58195C>T (p.Arg19399Ter)
|
rs768073446
|
0.00001
|
NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys)
|
rs564432498
|
0.00001
|
NM_001267550.2(TTN):c.60464A>G (p.Asn20155Ser)
|
rs369044697
|
0.00001
|
NM_001267550.2(TTN):c.60984G>A (p.Leu20328=)
|
rs1209561983
|
0.00001
|
NM_001267550.2(TTN):c.61220T>C (p.Val20407Ala)
|
rs761797946
|
0.00001
|
NM_001267550.2(TTN):c.6128A>G (p.Lys2043Arg)
|
rs551501561
|
0.00001
|
NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser)
|
rs756873840
|
0.00001
|
NM_001267550.2(TTN):c.613A>G (p.Lys205Glu)
|
rs763768455
|
0.00001
|
NM_001267550.2(TTN):c.62218G>A (p.Glu20740Lys)
|
rs1451572769
|
0.00001
|
NM_001267550.2(TTN):c.62891C>A (p.Pro20964His)
|
rs548460016
|
0.00001
|
NM_001267550.2(TTN):c.63379C>T (p.Arg21127Cys)
|
rs751590336
|
0.00001
|
NM_001267550.2(TTN):c.63796A>G (p.Thr21266Ala)
|
rs1453662624
|
0.00001
|
NM_001267550.2(TTN):c.6388G>A (p.Glu2130Lys)
|
rs762914675
|
0.00001
|
NM_001267550.2(TTN):c.64025C>G (p.Ala21342Gly)
|
rs1218513536
|
0.00001
|
NM_001267550.2(TTN):c.64147G>A (p.Ala21383Thr)
|
rs727503582
|
0.00001
|
NM_001267550.2(TTN):c.64504A>G (p.Lys21502Glu)
|
rs1199736147
|
0.00001
|
NM_001267550.2(TTN):c.65000G>A (p.Arg21667Gln)
|
rs758072872
|
0.00001
|
NM_001267550.2(TTN):c.65062G>C (p.Gly21688Arg)
|
rs372661193
|
0.00001
|
NM_001267550.2(TTN):c.65794G>A (p.Gly21932Arg)
|
rs373636513
|
0.00001
|
NM_001267550.2(TTN):c.6601C>T (p.Pro2201Ser)
|
rs763426070
|
0.00001
|
NM_001267550.2(TTN):c.66452G>A (p.Arg22151Gln)
|
rs781750042
|
0.00001
|
NM_001267550.2(TTN):c.66542C>G (p.Ala22181Gly)
|
rs1187714227
|
0.00001
|
NM_001267550.2(TTN):c.66577G>A (p.Val22193Ile)
|
rs760767895
|
0.00001
|
NM_001267550.2(TTN):c.66770-10A>C
|
rs769421715
|
0.00001
|
NM_001267550.2(TTN):c.67069C>T (p.Pro22357Ser)
|
rs1446351991
|
0.00001
|
NM_001267550.2(TTN):c.67834G>A (p.Asp22612Asn)
|
rs757888367
|
0.00001
|
NM_001267550.2(TTN):c.68825-7T>A
|
rs767881914
|
0.00001
|
NM_001267550.2(TTN):c.68827G>T (p.Ala22943Ser)
|
rs878941853
|
0.00001
|
NM_001267550.2(TTN):c.68996C>T (p.Thr22999Ile)
|
rs755306597
|
0.00001
|
NM_001267550.2(TTN):c.69637C>T (p.Arg23213Cys)
|
rs1335495074
|
0.00001
|
NM_001267550.2(TTN):c.69815T>G (p.Ile23272Ser)
|
rs758398301
|
0.00001
|
NM_001267550.2(TTN):c.70181C>T (p.Thr23394Met)
|
rs397517683
|
0.00001
|
NM_001267550.2(TTN):c.70231G>A (p.Gly23411Ser)
|
rs767075037
|
0.00001
|
NM_001267550.2(TTN):c.70739C>G (p.Thr23580Ser)
|
rs779765346
|
0.00001
|
NM_001267550.2(TTN):c.71909G>A (p.Arg23970Gln)
|
rs727503563
|
0.00001
|
NM_001267550.2(TTN):c.72071T>C (p.Val24024Ala)
|
rs1177425234
|
0.00001
|
NM_001267550.2(TTN):c.72363C>G (p.Asp24121Glu)
|
rs919790172
|
0.00001
|
NM_001267550.2(TTN):c.72373C>A (p.Pro24125Thr)
|
rs1480996647
|
0.00001
|
NM_001267550.2(TTN):c.725A>G (p.Asp242Gly)
|
rs773021696
|
0.00001
|
NM_001267550.2(TTN):c.74120T>A (p.Val24707Glu)
|
rs780299418
|
0.00001
|
NM_001267550.2(TTN):c.74332G>A (p.Ala24778Thr)
|
rs761619474
|
0.00001
|
NM_001267550.2(TTN):c.74843A>C (p.Lys24948Thr)
|
rs1263875134
|
0.00001
|
NM_001267550.2(TTN):c.7502G>A (p.Arg2501Gln)
|
rs369559000
|
0.00001
|
NM_001267550.2(TTN):c.7534G>A (p.Glu2512Lys)
|
rs116049561
|
0.00001
|
NM_001267550.2(TTN):c.75539G>T (p.Gly25180Val)
|
rs745329154
|
0.00001
|
NM_001267550.2(TTN):c.75575A>G (p.Glu25192Gly)
|
rs998111823
|
0.00001
|
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe)
|
rs374494927
|
0.00001
|
NM_001267550.2(TTN):c.76374A>T (p.Pro25458=)
|
rs891629905
|
0.00001
|
NM_001267550.2(TTN):c.7682T>C (p.Ile2561Thr)
|
rs747031357
|
0.00001
|
NM_001267550.2(TTN):c.76952T>C (p.Val25651Ala)
|
rs370768049
|
0.00001
|
NM_001267550.2(TTN):c.77450T>C (p.Ile25817Thr)
|
rs770455270
|
0.00001
|
NM_001267550.2(TTN):c.77452G>A (p.Glu25818Lys)
|
rs748619096
|
0.00001
|
NM_001267550.2(TTN):c.7783A>G (p.Met2595Val)
|
rs760786665
|
0.00001
|
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter)
|
rs727505284
|
0.00001
|
NM_001267550.2(TTN):c.82739C>T (p.Thr27580Met)
|
rs748535477
|
0.00001
|
NM_001267550.2(TTN):c.82792G>A (p.Gly27598Ser)
|
rs985566463
|
0.00001
|
NM_001267550.2(TTN):c.84589A>G (p.Ser28197Gly)
|
rs769905776
|
0.00001
|
NM_001267550.2(TTN):c.85006G>C (p.Val28336Leu)
|
rs375593513
|
0.00001
|
NM_001267550.2(TTN):c.85100T>C (p.Ile28367Thr)
|
rs1199614118
|
0.00001
|
NM_001267550.2(TTN):c.85861T>C (p.Tyr28621His)
|
rs751308383
|
0.00001
|
NM_001267550.2(TTN):c.86435T>C (p.Ile28812Thr)
|
rs727504959
|
0.00001
|
NM_001267550.2(TTN):c.87496G>A (p.Gly29166Ser)
|
rs200263009
|
0.00001
|
NM_001267550.2(TTN):c.87761T>C (p.Ile29254Thr)
|
rs868383233
|
0.00001
|
NM_001267550.2(TTN):c.88010-10A>G
|
rs1701805005
|
0.00001
|
NM_001267550.2(TTN):c.88754C>T (p.Ser29585Phe)
|
rs752117968
|
0.00001
|
NM_001267550.2(TTN):c.90041G>A (p.Gly30014Glu)
|
rs1359003253
|
0.00001
|
NM_001267550.2(TTN):c.91366G>A (p.Gly30456Ser)
|
rs773655064
|
0.00001
|
NM_001267550.2(TTN):c.92552T>G (p.Met30851Arg)
|
rs1206527
|
0.00001
|
NM_001267550.2(TTN):c.93537A>C (p.Lys31179Asn)
|
rs776904754
|
0.00001
|
NM_001267550.2(TTN):c.95021T>C (p.Val31674Ala)
|
rs754222897
|
0.00001
|
NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys)
|
rs776682000
|
0.00001
|
NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln)
|
rs369237346
|
0.00001
|
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln)
|
rs201696360
|
0.00001
|
NM_001267550.2(TTN):c.98255C>T (p.Ala32752Val)
|
rs778166587
|
0.00001
|
NM_001267550.2(TTN):c.98684-9T>C
|
rs767607825
|
0.00001
|
NM_001267550.2(TTN):c.98743A>G (p.Ser32915Gly)
|
rs760917372
|
0.00001
|
NM_001267550.2(TTN):c.98907G>C (p.Gln32969His)
|
rs1018386868
|
0.00001
|
NM_001267550.2(TTN):c.99305G>A (p.Gly33102Glu)
|
rs751364205
|
0.00001
|
NM_001276345.2(TNNT2):c.100C>A (p.Gln34Lys)
|
rs1350800220
|
0.00001
|
NM_001276345.2(TNNT2):c.105G>T (p.Glu35Asp)
|
rs1660031053
|
0.00001
|
NM_001276345.2(TNNT2):c.145G>A (p.Glu49Lys)
|
rs757526942
|
0.00001
|
NM_001276345.2(TNNT2):c.172G>A (p.Glu58Lys)
|
rs1659923363
|
0.00001
|
NM_001276345.2(TNNT2):c.200-4C>G
|
rs397516448
|
0.00001
|
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys)
|
rs727504244
|
0.00001
|
NM_001276345.2(TNNT2):c.281dup (p.Val95fs)
|
rs780087395
|
0.00001
|
NM_001276345.2(TNNT2):c.349G>A (p.Glu117Lys)
|
rs730881099
|
0.00001
|
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=)
|
rs727504322
|
0.00001
|
NM_001276345.2(TNNT2):c.419G>A (p.Arg140His)
|
rs1339922051
|
0.00001
|
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln)
|
rs754037135
|
0.00001
|
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln)
|
rs730881101
|
0.00001
|
NM_001276345.2(TNNT2):c.472C>T (p.Arg158Trp)
|
rs730881123
|
0.00001
|
NM_001276345.2(TNNT2):c.487G>T (p.Ala163Ser)
|
rs727505030
|
0.00001
|
NM_001276345.2(TNNT2):c.490-1G>C
|
rs111344408
|
0.00001
|
NM_001276345.2(TNNT2):c.52+3A>C
|
rs763459940
|
0.00001
|
NM_001276345.2(TNNT2):c.601-1G>A
|
rs483352835
|
0.00001
|
NM_001276345.2(TNNT2):c.613G>A (p.Glu205Lys)
|
rs150008205
|
0.00001
|
NM_001276345.2(TNNT2):c.659A>T (p.Lys220Met)
|
rs190805300
|
0.00001
|
NM_001276345.2(TNNT2):c.677G>A (p.Arg226Lys)
|
rs1205564576
|
0.00001
|
NM_001276345.2(TNNT2):c.720-9C>A
|
rs763204242
|
0.00001
|
NM_001276345.2(TNNT2):c.752A>G (p.Tyr251Cys)
|
rs200500421
|
0.00001
|
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)
|
rs141805127
|
0.00001
|
NM_001276345.2(TNNT2):c.815A>G (p.Asn272Ser)
|
rs397516483
|
0.00001
|
NM_001276345.2(TNNT2):c.835A>G (p.Asn279Asp)
|
rs4523540
|
0.00001
|
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys)
|
rs367785431
|
0.00001
|
NM_001289808.2(CRYAB):c.406T>A (p.Ser136Thr)
|
rs371079119
|
0.00001
|
NM_001289808.2(CRYAB):c.427C>T (p.Leu143Phe)
|
rs782629197
|
0.00001
|
NM_001289808.2(CRYAB):c.511G>A (p.Ala171Thr)
|
rs370803064
|
0.00001
|
NM_001289808.2(CRYAB):c.52C>T (p.His18Tyr)
|
rs373032047
|
0.00001
|
NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys)
|
rs1422233407
|
0.00001
|
NM_001458.5(FLNC):c.2121+4G>A
|
rs372098008
|
0.00001
|
NM_001458.5(FLNC):c.3381C>T (p.Gly1127=)
|
rs1052000080
|
0.00001
|
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp)
|
rs369187211
|
0.00001
|
NM_001458.5(FLNC):c.5765C>T (p.Ala1922Val)
|
rs377206490
|
0.00001
|
NM_001458.5(FLNC):c.5828C>T (p.Thr1943Ile)
|
rs376413798
|
0.00001
|
NM_001458.5(FLNC):c.7072G>A (p.Glu2358Lys)
|
rs370769744
|
0.00001
|
NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val)
|
rs1343869103
|
0.00001
|
NM_001927.4(DES):c.1027G>A (p.Asp343Asn)
|
rs763903197
|
0.00001
|
NM_001927.4(DES):c.516G>A (p.Gln172=)
|
rs1014762661
|
0.00001
|
NM_001927.4(DES):c.854C>T (p.Ala285Val)
|
rs1368507241
|
0.00001
|
NM_001943.5(DSG2):c.-12G>A
|
rs1011787097
|
0.00001
|
NM_001943.5(DSG2):c.-15G>A
|
rs727502982
|
0.00001
|
NM_001943.5(DSG2):c.1011T>G (p.Ile337Met)
|
rs751003065
|
0.00001
|
NM_001943.5(DSG2):c.105T>A (p.Asn35Lys)
|
rs1380949518
|
0.00001
|
NM_001943.5(DSG2):c.106A>G (p.Lys36Glu)
|
rs1441795357
|
0.00001
|
NM_001943.5(DSG2):c.1072G>A (p.Ala358Thr)
|
rs758537946
|
0.00001
|
NM_001943.5(DSG2):c.1095G>C (p.Arg365Ser)
|
rs749191457
|
0.00001
|
NM_001943.5(DSG2):c.1105A>G (p.Lys369Glu)
|
rs727505208
|
0.00001
|
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys)
|
rs369214871
|
0.00001
|
NM_001943.5(DSG2):c.1193G>A (p.Ser398Asn)
|
rs1481718957
|
0.00001
|
NM_001943.5(DSG2):c.1199G>A (p.Ser400Asn)
|
rs1188569362
|
0.00001
|
NM_001943.5(DSG2):c.1250A>T (p.Asp417Val)
|
rs1192016851
|
0.00001
|
NM_001943.5(DSG2):c.1262G>A (p.Gly421Glu)
|
rs1232284581
|
0.00001
|
NM_001943.5(DSG2):c.1281A>T (p.Arg427Ser)
|
rs370547219
|
0.00001
|
NM_001943.5(DSG2):c.128A>G (p.His43Arg)
|
rs370922106
|
0.00001
|
NM_001943.5(DSG2):c.1292T>C (p.Leu431Ser)
|
rs540113579
|
0.00001
|
NM_001943.5(DSG2):c.1438A>G (p.Thr480Ala)
|
rs998496995
|
0.00001
|
NM_001943.5(DSG2):c.1439C>T (p.Thr480Ile)
|
rs1598819592
|
0.00001
|
NM_001943.5(DSG2):c.1441A>G (p.Ile481Val)
|
rs368419383
|
0.00001
|
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys)
|
rs762526848
|
0.00001
|
NM_001943.5(DSG2):c.1460T>G (p.Ile487Ser)
|
rs776525113
|
0.00001
|
NM_001943.5(DSG2):c.1484A>G (p.Asn495Ser)
|
rs1343972091
|
0.00001
|
NM_001943.5(DSG2):c.1489C>A (p.Pro497Thr)
|
rs1293179210
|
0.00001
|
NM_001943.5(DSG2):c.1499T>C (p.Ile500Thr)
|
rs769741655
|
0.00001
|
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr)
|
rs121913009
|
0.00001
|
NM_001943.5(DSG2):c.1525G>A (p.Asp509Asn)
|
rs753406968
|
0.00001
|
NM_001943.5(DSG2):c.1537G>A (p.Val513Met)
|
rs1325342385
|
0.00001
|
NM_001943.5(DSG2):c.1562A>G (p.Asp521Gly)
|
rs730880077
|
0.00001
|
NM_001943.5(DSG2):c.1592T>G (p.Phe531Cys)
|
rs200484060
|
0.00001
|
NM_001943.5(DSG2):c.160G>A (p.Ala54Thr)
|
rs549421694
|
0.00001
|
NM_001943.5(DSG2):c.1612C>T (p.Pro538Ser)
|
rs766053352
|
0.00001
|
NM_001943.5(DSG2):c.1754T>G (p.Val585Gly)
|
rs1226887053
|
0.00001
|
NM_001943.5(DSG2):c.176G>A (p.Arg59Gln)
|
rs768794560
|
0.00001
|
NM_001943.5(DSG2):c.1814A>T (p.Asp605Val)
|
rs761157959
|
0.00001
|
NM_001943.5(DSG2):c.1826G>T (p.Gly609Val)
|
rs754168863
|
0.00001
|
NM_001943.5(DSG2):c.1829T>C (p.Leu610Pro)
|
rs755196345
|
0.00001
|
NM_001943.5(DSG2):c.1843A>G (p.Ile615Val)
|
rs794728087
|
0.00001
|
NM_001943.5(DSG2):c.1957A>T (p.Met653Leu)
|
rs1382682032
|
0.00001
|
NM_001943.5(DSG2):c.1996G>C (p.Asp666His)
|
rs771623047
|
0.00001
|
NM_001943.5(DSG2):c.2035G>A (p.Gly679Ser)
|
rs756896076
|
0.00001
|
NM_001943.5(DSG2):c.2070G>A (p.Met690Ile)
|
rs1408480908
|
0.00001
|
NM_001943.5(DSG2):c.2074A>G (p.Lys692Glu)
|
rs997161591
|
0.00001
|
NM_001943.5(DSG2):c.2110A>G (p.Ile704Val)
|
rs141388237
|
0.00001
|
NM_001943.5(DSG2):c.2111T>C (p.Ile704Thr)
|
rs759420598
|
0.00001
|
NM_001943.5(DSG2):c.2126A>G (p.His709Arg)
|
rs752557148
|
0.00001
|
NM_001943.5(DSG2):c.220C>A (p.His74Asn)
|
rs772406363
|
0.00001
|
NM_001943.5(DSG2):c.2215A>G (p.Ile739Val)
|
rs772240008
|
0.00001
|
NM_001943.5(DSG2):c.2252C>T (p.Thr751Ile)
|
rs727502989
|
0.00001
|
NM_001943.5(DSG2):c.2335-9T>C
|
rs757355636
|
0.00001
|
NM_001943.5(DSG2):c.233C>A (p.Ala78Glu)
|
rs769649528
|
0.00001
|
NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys)
|
rs794728090
|
0.00001
|
NM_001943.5(DSG2):c.2497T>A (p.Phe833Ile)
|
rs764461485
|
0.00001
|
NM_001943.5(DSG2):c.2525G>A (p.Gly842Asp)
|
rs374177723
|
0.00001
|
NM_001943.5(DSG2):c.2558A>G (p.Gln853Arg)
|
rs1567934468
|
0.00001
|
NM_001943.5(DSG2):c.2614G>C (p.Glu872Gln)
|
rs754057911
|
0.00001
|
NM_001943.5(DSG2):c.2642C>T (p.Thr881Ile)
|
rs760786694
|
0.00001
|
NM_001943.5(DSG2):c.2648C>T (p.Ser883Phe)
|
rs371498622
|
0.00001
|
NM_001943.5(DSG2):c.2676A>T (p.Lys892Asn)
|
rs1393096287
|
0.00001
|
NM_001943.5(DSG2):c.2681T>G (p.Leu894Trp)
|
rs759746836
|
0.00001
|
NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp)
|
rs765238150
|
0.00001
|
NM_001943.5(DSG2):c.2694T>A (p.Asn898Lys)
|
rs1246005488
|
0.00001
|
NM_001943.5(DSG2):c.2710C>G (p.Gln904Glu)
|
rs372335085
|
0.00001
|
NM_001943.5(DSG2):c.2768C>G (p.Pro923Arg)
|
rs1408093009
|
0.00001
|
NM_001943.5(DSG2):c.2813C>A (p.Thr938Asn)
|
rs919875624
|
0.00001
|
NM_001943.5(DSG2):c.287A>T (p.Glu96Val)
|
rs2073123571
|
0.00001
|
NM_001943.5(DSG2):c.2908C>T (p.Pro970Ser)
|
rs758058872
|
0.00001
|
NM_001943.5(DSG2):c.2953G>A (p.Val985Ile)
|
rs749540432
|
0.00001
|
NM_001943.5(DSG2):c.2965G>A (p.Glu989Lys)
|
rs748298838
|
0.00001
|
NM_001943.5(DSG2):c.296T>A (p.Phe99Tyr)
|
rs1275376903
|
0.00001
|
NM_001943.5(DSG2):c.2987G>A (p.Gly996Glu)
|
rs1567934945
|
0.00001
|
NM_001943.5(DSG2):c.3013A>G (p.Thr1005Ala)
|
rs1386679487
|
0.00001
|
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr)
|
rs886053716
|
0.00001
|
NM_001943.5(DSG2):c.3086T>C (p.Val1029Ala)
|
rs769806198
|
0.00001
|
NM_001943.5(DSG2):c.308T>C (p.Val103Ala)
|
rs876657790
|
0.00001
|
NM_001943.5(DSG2):c.3101C>T (p.Ala1034Val)
|
rs762885186
|
0.00001
|
NM_001943.5(DSG2):c.3113T>C (p.Ile1038Thr)
|
rs543979536
|
0.00001
|
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met)
|
rs943749481
|
0.00001
|
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter)
|
rs753052874
|
0.00001
|
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr)
|
rs373542380
|
0.00001
|
NM_001943.5(DSG2):c.445G>A (p.Val149Ile)
|
rs372606274
|
0.00001
|
NM_001943.5(DSG2):c.458A>G (p.Asn153Ser)
|
rs375597675
|
0.00001
|
NM_001943.5(DSG2):c.466G>A (p.Glu156Lys)
|
rs566251077
|
0.00001
|
NM_001943.5(DSG2):c.46A>G (p.Ile16Val)
|
rs376660601
|
0.00001
|
NM_001943.5(DSG2):c.470C>T (p.Pro157Leu)
|
rs587782938
|
0.00001
|
NM_001943.5(DSG2):c.523C>T (p.His175Tyr)
|
rs375422019
|
0.00001
|
NM_001943.5(DSG2):c.536T>C (p.Met179Thr)
|
rs753854046
|
0.00001
|
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys)
|
rs763948986
|
0.00001
|
NM_001943.5(DSG2):c.58G>A (p.Val20Ile)
|
rs746192055
|
0.00001
|
NM_001943.5(DSG2):c.677C>A (p.Thr226Asn)
|
rs751490881
|
0.00001
|
NM_001943.5(DSG2):c.677C>T (p.Thr226Ile)
|
rs751490881
|
0.00001
|
NM_001943.5(DSG2):c.690G>A (p.Glu230=)
|
rs767433640
|
0.00001
|
NM_001943.5(DSG2):c.73C>T (p.His25Tyr)
|
rs1335695492
|
0.00001
|
NM_001943.5(DSG2):c.770A>G (p.Gln257Arg)
|
rs765118809
|
0.00001
|
NM_001943.5(DSG2):c.782G>A (p.Arg261His)
|
rs727502984
|
0.00001
|
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys)
|
rs770921270
|
0.00001
|
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu)
|
rs752432726
|
0.00001
|
NM_001943.5(DSG2):c.884T>C (p.Val295Ala)
|
rs762588785
|
0.00001
|
NM_001943.5(DSG2):c.889G>A (p.Asp297Asn)
|
rs751012696
|
0.00001
|
NM_001943.5(DSG2):c.908C>T (p.Ser303Phe)
|
rs757792714
|
0.00001
|
NM_002230.4(JUP):c.1319A>G (p.His440Arg)
|
rs782305614
|
0.00001
|
NM_002230.4(JUP):c.151C>T (p.Arg51Cys)
|
rs782254006
|
0.00001
|
NM_002230.4(JUP):c.485C>T (p.Ala162Val)
|
rs369121094
|
0.00001
|
NM_002230.4(JUP):c.562G>A (p.Ala188Thr)
|
rs782585387
|
0.00001
|
NM_002230.4(JUP):c.661G>A (p.Ala221Thr)
|
rs782076415
|
0.00001
|
NM_002230.4(JUP):c.764T>G (p.Leu255Arg)
|
rs878854482
|
0.00001
|
NM_002294.3(LAMP2):c.959A>G (p.Tyr320Cys)
|
rs1292531971
|
0.00001
|
NM_002471.4(MYH6):c.2828G>A (p.Arg943His)
|
rs766640013
|
0.00001
|
NM_002471.4(MYH6):c.4176-6G>T
|
rs760780588
|
0.00001
|
NM_002471.4(MYH6):c.4299C>T (p.Asp1433=)
|
rs765006624
|
0.00001
|
NM_002471.4(MYH6):c.4465G>A (p.Ala1489Thr)
|
rs761539900
|
0.00001
|
NM_002471.4(MYH6):c.642+1G>C
|
rs199989693
|
0.00001
|
NM_002471.4(MYH6):c.68G>A (p.Arg23His)
|
rs771786844
|
0.00001
|
NM_002471.4(MYH6):c.899-9C>T
|
rs767945761
|
0.00001
|
NM_002667.5(PLN):c.148A>C (p.Met50Leu)
|
rs757797900
|
0.00001
|
NM_003280.3(TNNC1):c.376G>A (p.Glu126Lys)
|
rs730881060
|
0.00001
|
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp)
|
rs730881061
|
0.00001
|
NM_003280.3(TNNC1):c.439C>T (p.Arg147Cys)
|
rs796243470
|
0.00001
|
NM_003280.3(TNNC1):c.454+7G>A
|
rs747842576
|
0.00001
|
NM_003280.3(TNNC1):c.55+9C>A
|
rs750647348
|
0.00001
|
NM_003476.5(CSRP3):c.152C>A (p.Ala51Asp)
|
rs397516853
|
0.00001
|
NM_003476.5(CSRP3):c.197A>G (p.Tyr66Cys)
|
rs397516854
|
0.00001
|
NM_003476.5(CSRP3):c.293C>T (p.Pro98Leu)
|
rs773411006
|
0.00001
|
NM_003476.5(CSRP3):c.302C>T (p.Ser101Leu)
|
rs746707959
|
0.00001
|
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)
|
rs761507504
|
0.00001
|
NM_004281.4(BAG3):c.1429C>T (p.Arg477Cys)
|
rs775645671
|
0.00001
|
NM_004281.4(BAG3):c.1447G>A (p.Gly483Ser)
|
rs570294713
|
0.00001
|
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser)
|
rs747846089
|
0.00001
|
NM_004415.4(DSP):c.1012C>T (p.Leu338Phe)
|
rs774852168
|
0.00001
|
NM_004415.4(DSP):c.1016A>G (p.Asn339Ser)
|
rs746245682
|
0.00001
|
NM_004415.4(DSP):c.1045-3C>T
|
rs765077011
|
0.00001
|
NM_004415.4(DSP):c.106G>A (p.Gly36Ser)
|
rs1395509692
|
0.00001
|
NM_004415.4(DSP):c.1102A>T (p.Ile368Phe)
|
rs794728112
|
0.00001
|
NM_004415.4(DSP):c.1136T>C (p.Phe379Ser)
|
rs1064795084
|
0.00001
|
NM_004415.4(DSP):c.117G>T (p.Arg39Ser)
|
rs748578019
|
0.00001
|
NM_004415.4(DSP):c.1197C>G (p.Ile399Met)
|
rs375828592
|
0.00001
|
NM_004415.4(DSP):c.120G>A (p.Met40Ile)
|
rs1377575571
|
0.00001
|
NM_004415.4(DSP):c.1262T>C (p.Leu421Pro)
|
rs763523373
|
0.00001
|
NM_004415.4(DSP):c.1274G>A (p.Arg425Gln)
|
rs397516916
|
0.00001
|
NM_004415.4(DSP):c.1323G>C (p.Lys441Asn)
|
rs1037212969
|
0.00001
|
NM_004415.4(DSP):c.136G>A (p.Gly46Ser)
|
rs371517189
|
0.00001
|
NM_004415.4(DSP):c.1465G>A (p.Glu489Lys)
|
rs904467199
|
0.00001
|
NM_004415.4(DSP):c.1468C>T (p.Arg490Cys)
|
rs781084693
|
0.00001
|
NM_004415.4(DSP):c.1472G>A (p.Ser491Asn)
|
rs930342643
|
0.00001
|
NM_004415.4(DSP):c.1502T>C (p.Val501Ala)
|
rs544017143
|
0.00001
|
NM_004415.4(DSP):c.163G>T (p.Gly55Cys)
|
rs1214660308
|
0.00001
|
NM_004415.4(DSP):c.1671A>G (p.Ile557Met)
|
rs766505506
|
0.00001
|
NM_004415.4(DSP):c.1685C>T (p.Ala562Val)
|
rs767605301
|
0.00001
|
NM_004415.4(DSP):c.1693A>G (p.Ile565Val)
|
rs1287232143
|
0.00001
|
NM_004415.4(DSP):c.1714C>T (p.Arg572Trp)
|
rs796851273
|
0.00001
|
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln)
|
rs370531666
|
0.00001
|
NM_004415.4(DSP):c.1730T>C (p.Met577Thr)
|
rs141956992
|
0.00001
|
NM_004415.4(DSP):c.1731G>A (p.Met577Ile)
|
rs794728101
|
0.00001
|
NM_004415.4(DSP):c.17G>A (p.Gly6Asp)
|
rs1339636876
|
0.00001
|
NM_004415.4(DSP):c.181A>G (p.Thr61Ala)
|
rs1380249575
|
0.00001
|
NM_004415.4(DSP):c.182C>T (p.Thr61Met)
|
rs200250096
|
0.00001
|
NM_004415.4(DSP):c.1960G>A (p.Val654Ile)
|
rs375629257
|
0.00001
|
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser)
|
rs749183448
|
0.00001
|
NM_004415.4(DSP):c.2026C>T (p.Arg676Cys)
|
rs756249036
|
0.00001
|
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys)
|
rs749238502
|
0.00001
|
NM_004415.4(DSP):c.2054G>C (p.Arg685Thr)
|
rs1212756552
|
0.00001
|
NM_004415.4(DSP):c.2071C>T (p.Leu691Phe)
|
rs1363445022
|
0.00001
|
NM_004415.4(DSP):c.2077C>G (p.Leu693Val)
|
rs1339486272
|
0.00001
|
NM_004415.4(DSP):c.2081C>T (p.Ala694Val)
|
rs543446763
|
0.00001
|
NM_004415.4(DSP):c.2158G>T (p.Ala720Ser)
|
rs1180846023
|
0.00001
|
NM_004415.4(DSP):c.2186T>C (p.Met729Thr)
|
rs758200210
|
0.00001
|
NM_004415.4(DSP):c.2192C>A (p.Ala731Asp)
|
rs1280322841
|
0.00001
|
NM_004415.4(DSP):c.2260G>A (p.Glu754Lys)
|
rs730880080
|
0.00001
|
NM_004415.4(DSP):c.2270A>G (p.Asn757Ser)
|
rs372354883
|
0.00001
|
NM_004415.4(DSP):c.2287T>C (p.Tyr763His)
|
rs1064794463
|
0.00001
|
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys)
|
rs755067397
|
0.00001
|
NM_004415.4(DSP):c.2423G>A (p.Arg808His)
|
rs372906646
|
0.00001
|
NM_004415.4(DSP):c.249G>A (p.Met83Ile)
|
rs1426930663
|
0.00001
|
NM_004415.4(DSP):c.2550_2552dup (p.Leu851dup)
|
rs730880373
|
0.00001
|
NM_004415.4(DSP):c.2609T>C (p.Ile870Thr)
|
rs534413559
|
0.00001
|
NM_004415.4(DSP):c.2617C>G (p.Gln873Glu)
|
rs794728118
|
0.00001
|
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys)
|
rs730880081
|
0.00001
|
NM_004415.4(DSP):c.2698A>G (p.Lys900Glu)
|
rs371493210
|
0.00001
|
NM_004415.4(DSP):c.26C>A (p.Pro9Gln)
|
rs1303669220
|
0.00001
|
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln)
|
rs759869347
|
0.00001
|
NM_004415.4(DSP):c.2828A>C (p.Lys943Thr)
|
rs1279814161
|
0.00001
|
NM_004415.4(DSP):c.2850T>G (p.Ile950Met)
|
rs727502999
|
0.00001
|
NM_004415.4(DSP):c.2858T>C (p.Leu953Pro)
|
rs745641212
|
0.00001
|
NM_004415.4(DSP):c.2878-15_2878-14del
|
rs763029451
|
0.00001
|
NM_004415.4(DSP):c.2884G>A (p.Glu962Lys)
|
rs1289962465
|
0.00001
|
NM_004415.4(DSP):c.2906C>T (p.Thr969Ile)
|
rs1265482489
|
0.00001
|
NM_004415.4(DSP):c.2924T>C (p.Leu975Pro)
|
rs1473895931
|
0.00001
|
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys)
|
rs1060500615
|
0.00001
|
NM_004415.4(DSP):c.2966C>T (p.Ser989Phe)
|
rs746346559
|
0.00001
|
NM_004415.4(DSP):c.2985G>A (p.Glu995=)
|
rs768858918
|
0.00001
|
NM_004415.4(DSP):c.2993A>T (p.Asp998Val)
|
rs752344739
|
0.00001
|
NM_004415.4(DSP):c.2T>G (p.Met1Arg)
|
rs748738880
|
0.00001
|
NM_004415.4(DSP):c.3001G>T (p.Ala1001Ser)
|
rs1218975129
|
0.00001
|
NM_004415.4(DSP):c.3004C>T (p.Arg1002Trp)
|
rs772551736
|
0.00001
|
NM_004415.4(DSP):c.3059T>C (p.Met1020Thr)
|
rs773331618
|
0.00001
|
NM_004415.4(DSP):c.308G>A (p.Arg103Gln)
|
rs775015862
|
0.00001
|
NM_004415.4(DSP):c.3136G>A (p.Asp1046Asn)
|
rs1759341863
|
0.00001
|
NM_004415.4(DSP):c.314G>A (p.Arg105Gln)
|
rs762238621
|
0.00001
|
NM_004415.4(DSP):c.3277G>A (p.Ala1093Thr)
|
rs1185986064
|
0.00001
|
NM_004415.4(DSP):c.334G>T (p.Ala112Ser)
|
rs758746580
|
0.00001
|
NM_004415.4(DSP):c.340G>A (p.Ala114Thr)
|
rs751745906
|
0.00001
|
NM_004415.4(DSP):c.3526G>T (p.Val1176Phe)
|
rs1261167694
|
0.00001
|
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp)
|
rs761331634
|
0.00001
|
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser)
|
rs777375223
|
0.00001
|
NM_004415.4(DSP):c.3649A>T (p.Thr1217Ser)
|
rs770484693
|
0.00001
|
NM_004415.4(DSP):c.364G>A (p.Asp122Asn)
|
rs756013600
|
0.00001
|
NM_004415.4(DSP):c.365A>G (p.Asp122Gly)
|
rs1206577405
|
0.00001
|
NM_004415.4(DSP):c.3680A>G (p.Gln1227Arg)
|
rs1458557680
|
0.00001
|
NM_004415.4(DSP):c.3715C>T (p.Leu1239Phe)
|
rs752645827
|
0.00001
|
NM_004415.4(DSP):c.3742G>A (p.Asp1248Asn)
|
rs989348634
|
0.00001
|
NM_004415.4(DSP):c.3757A>C (p.Ile1253Leu)
|
rs924651718
|
0.00001
|
NM_004415.4(DSP):c.3806G>T (p.Arg1269Leu)
|
rs876657795
|
0.00001
|
NM_004415.4(DSP):c.3820G>A (p.Ala1274Thr)
|
rs1285435504
|
0.00001
|
NM_004415.4(DSP):c.385C>T (p.Arg129Trp)
|
rs777763456
|
0.00001
|
NM_004415.4(DSP):c.386G>A (p.Arg129Gln)
|
rs749155619
|
0.00001
|
NM_004415.4(DSP):c.3878T>C (p.Ile1293Thr)
|
rs759823665
|
0.00001
|
NM_004415.4(DSP):c.38C>T (p.Thr13Ile)
|
rs201133637
|
0.00001
|
NM_004415.4(DSP):c.3905G>A (p.Arg1302His)
|
rs760691999
|
0.00001
|
NM_004415.4(DSP):c.3919G>A (p.Ala1307Thr)
|
rs367579811
|
0.00001
|
NM_004415.4(DSP):c.3968A>G (p.Lys1323Arg)
|
rs971198843
|
0.00001
|
NM_004415.4(DSP):c.3973A>C (p.Lys1325Gln)
|
rs41302883
|
0.00001
|
NM_004415.4(DSP):c.4021C>T (p.Arg1341Cys)
|
rs547568275
|
0.00001
|
NM_004415.4(DSP):c.4046G>A (p.Ser1349Asn)
|
rs144465638
|
0.00001
|
NM_004415.4(DSP):c.4103C>T (p.Thr1368Ile)
|
rs530481219
|
0.00001
|
NM_004415.4(DSP):c.4142C>G (p.Thr1381Ser)
|
rs767174407
|
0.00001
|
NM_004415.4(DSP):c.4174C>T (p.Arg1392Trp)
|
rs987487921
|
0.00001
|
NM_004415.4(DSP):c.423G>C (p.Arg141Ser)
|
rs771688614
|
0.00001
|
NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys)
|
rs577560157
|
0.00001
|
NM_004415.4(DSP):c.4303G>C (p.Ala1435Pro)
|
rs751972271
|
0.00001
|
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro)
|
rs1561698695
|
0.00001
|
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe)
|
rs752121953
|
0.00001
|
NM_004415.4(DSP):c.4447A>T (p.Ile1483Leu)
|
rs775143161
|
0.00001
|
NM_004415.4(DSP):c.4448T>C (p.Ile1483Thr)
|
rs745872344
|
0.00001
|
NM_004415.4(DSP):c.4513G>A (p.Ala1505Thr)
|
rs1488770025
|
0.00001
|
NM_004415.4(DSP):c.4592A>C (p.Gln1531Pro)
|
rs1208037043
|
0.00001
|
NM_004415.4(DSP):c.4621G>A (p.Asp1541Asn)
|
rs750607476
|
0.00001
|
NM_004415.4(DSP):c.4625A>G (p.Tyr1542Cys)
|
rs1279142467
|
0.00001
|
NM_004415.4(DSP):c.4666A>G (p.Ile1556Val)
|
rs530647574
|
0.00001
|
NM_004415.4(DSP):c.4684T>C (p.Ser1562Pro)
|
rs1394590334
|
0.00001
|
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp)
|
rs755868373
|
0.00001
|
NM_004415.4(DSP):c.4736G>A (p.Arg1579Gln)
|
rs397516942
|
0.00001
|
NM_004415.4(DSP):c.4748C>G (p.Thr1583Ser)
|
rs778603023
|
0.00001
|
NM_004415.4(DSP):c.4754C>T (p.Ser1585Leu)
|
rs773622004
|
0.00001
|
NM_004415.4(DSP):c.479G>A (p.Arg160Gln)
|
rs752941845
|
0.00001
|
NM_004415.4(DSP):c.4859A>G (p.Glu1620Gly)
|
rs1423503309
|
0.00001
|
NM_004415.4(DSP):c.4871T>C (p.Ile1624Thr)
|
rs771250599
|
0.00001
|
NM_004415.4(DSP):c.4916T>G (p.Val1639Gly)
|
rs1304994640
|
0.00001
|
NM_004415.4(DSP):c.4961T>C (p.Leu1654Pro)
|
rs749730642
|
0.00001
|
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr)
|
rs757753880
|
0.00001
|
NM_004415.4(DSP):c.5123C>T (p.Ser1708Phe)
|
rs372452104
|
0.00001
|
NM_004415.4(DSP):c.5186T>G (p.Leu1729Arg)
|
rs377344768
|
0.00001
|
NM_004415.4(DSP):c.5284C>T (p.Arg1762Trp)
|
rs766833113
|
0.00001
|
NM_004415.4(DSP):c.5396A>G (p.Gln1799Arg)
|
rs987386495
|
0.00001
|
NM_004415.4(DSP):c.5572C>G (p.Gln1858Glu)
|
rs1474132784
|
0.00001
|
NM_004415.4(DSP):c.5594A>G (p.Asn1865Ser)
|
rs780714982
|
0.00001
|
NM_004415.4(DSP):c.5618G>A (p.Arg1873His)
|
rs776088292
|
0.00001
|
NM_004415.4(DSP):c.5647T>C (p.Ser1883Pro)
|
rs1056652234
|
0.00001
|
NM_004415.4(DSP):c.5648C>T (p.Ser1883Leu)
|
rs1418959797
|
0.00001
|
NM_004415.4(DSP):c.5651A>G (p.Glu1884Gly)
|
rs1414563217
|
0.00001
|
NM_004415.4(DSP):c.5656G>C (p.Glu1886Gln)
|
rs776728790
|
0.00001
|
NM_004415.4(DSP):c.5779C>G (p.Gln1927Glu)
|
rs794728104
|
0.00001
|
NM_004415.4(DSP):c.5794C>T (p.Arg1932Cys)
|
rs748825632
|
0.00001
|
NM_004415.4(DSP):c.5822A>C (p.Lys1941Thr)
|
rs143484124
|
0.00001
|
NM_004415.4(DSP):c.582G>T (p.Trp194Cys)
|
rs1345570966
|
0.00001
|
NM_004415.4(DSP):c.5833C>T (p.Arg1945Cys)
|
rs1456378645
|
0.00001
|
NM_004415.4(DSP):c.5875T>C (p.Trp1959Arg)
|
rs1759501923
|
0.00001
|
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile)
|
rs368869076
|
0.00001
|
NM_004415.4(DSP):c.5959G>A (p.Asp1987Asn)
|
rs759443302
|
0.00001
|
NM_004415.4(DSP):c.5963A>G (p.Lys1988Arg)
|
rs767516148
|
0.00001
|
NM_004415.4(DSP):c.5984T>C (p.Leu1995Ser)
|
rs794728128
|
0.00001
|
NM_004415.4(DSP):c.599C>T (p.Ala200Val)
|
rs1337095425
|
0.00001
|
NM_004415.4(DSP):c.6014C>T (p.Ala2005Val)
|
rs749925817
|
0.00001
|
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln)
|
rs557263443
|
0.00001
|
NM_004415.4(DSP):c.6043G>A (p.Ala2015Thr)
|
rs1200353349
|
0.00001
|
NM_004415.4(DSP):c.6086A>G (p.Tyr2029Cys)
|
rs753271305
|
0.00001
|
NM_004415.4(DSP):c.6112A>C (p.Lys2038Gln)
|
rs185846631
|
0.00001
|
NM_004415.4(DSP):c.6137T>G (p.Val2046Gly)
|
rs746016404
|
0.00001
|
NM_004415.4(DSP):c.6141G>C (p.Met2047Ile)
|
rs374226658
|
0.00001
|
NM_004415.4(DSP):c.61G>A (p.Glu21Lys)
|
rs747956457
|
0.00001
|
NM_004415.4(DSP):c.6233T>C (p.Ile2078Thr)
|
rs377035113
|
0.00001
|
NM_004415.4(DSP):c.6235G>C (p.Asp2079His)
|
rs992731463
|
0.00001
|
NM_004415.4(DSP):c.6241G>A (p.Asp2081Asn)
|
rs779129603
|
0.00001
|
NM_004415.4(DSP):c.6325G>A (p.Glu2109Lys)
|
rs397516951
|
0.00001
|
NM_004415.4(DSP):c.6332T>C (p.Ile2111Thr)
|
rs370865499
|
0.00001
|
NM_004415.4(DSP):c.6346A>G (p.Ile2116Val)
|
rs777184414
|
0.00001
|
NM_004415.4(DSP):c.6385A>G (p.Ile2129Val)
|
rs755981187
|
0.00001
|
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp)
|
rs762434061
|
0.00001
|
NM_004415.4(DSP):c.6497G>A (p.Arg2166Gln)
|
rs771692503
|
0.00001
|
NM_004415.4(DSP):c.6592C>G (p.Leu2198Val)
|
rs752057967
|
0.00001
|
NM_004415.4(DSP):c.664C>T (p.Arg222Trp)
|
rs1233981969
|
0.00001
|
NM_004415.4(DSP):c.6689C>T (p.Pro2230Leu)
|
rs759982048
|
0.00001
|
NM_004415.4(DSP):c.677A>G (p.Asn226Ser)
|
rs921332894
|
0.00001
|
NM_004415.4(DSP):c.6880G>A (p.Ala2294Thr)
|
rs1422022096
|
0.00001
|
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr)
|
rs772381363
|
0.00001
|
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys)
|
rs770210088
|
0.00001
|
NM_004415.4(DSP):c.6932C>T (p.Pro2311Leu)
|
rs768947332
|
0.00001
|
NM_004415.4(DSP):c.6947A>G (p.Tyr2316Cys)
|
rs765245807
|
0.00001
|
NM_004415.4(DSP):c.7000C>T (p.Arg2334Ter)
|
rs369482721
|
0.00001
|
NM_004415.4(DSP):c.7046C>G (p.Ser2349Cys)
|
rs769930190
|
0.00001
|
NM_004415.4(DSP):c.7162G>A (p.Val2388Ile)
|
rs370490538
|
0.00001
|
NM_004415.4(DSP):c.7193A>G (p.Asn2398Ser)
|
rs1251606363
|
0.00001
|
NM_004415.4(DSP):c.721G>A (p.Asp241Asn)
|
rs868293429
|
0.00001
|
NM_004415.4(DSP):c.7235C>A (p.Thr2412Asn)
|
rs775399575
|
0.00001
|
NM_004415.4(DSP):c.7279C>A (p.Leu2427Met)
|
rs555784793
|
0.00001
|
NM_004415.4(DSP):c.7341A>C (p.Lys2447Asn)
|
rs755448403
|
0.00001
|
NM_004415.4(DSP):c.7390C>T (p.Arg2464Cys)
|
rs778822920
|
0.00001
|
NM_004415.4(DSP):c.7433C>T (p.Ser2478Phe)
|
rs1759570987
|
0.00001
|
NM_004415.4(DSP):c.7451A>G (p.Lys2484Arg)
|
rs1346398330
|
0.00001
|
NM_004415.4(DSP):c.7465G>A (p.Asp2489Asn)
|
rs760552749
|
0.00001
|
NM_004415.4(DSP):c.7501T>C (p.Cys2501Arg)
|
rs776405018
|
0.00001
|
NM_004415.4(DSP):c.7534G>T (p.Asp2512Tyr)
|
rs772574987
|
0.00001
|
NM_004415.4(DSP):c.7549G>T (p.Val2517Leu)
|
rs764359340
|
0.00001
|
NM_004415.4(DSP):c.7583A>G (p.Tyr2528Cys)
|
rs746932951
|
0.00001
|
NM_004415.4(DSP):c.7618G>A (p.Asp2540Asn)
|
rs761136328
|
0.00001
|
NM_004415.4(DSP):c.764A>T (p.Tyr255Phe)
|
rs1490279963
|
0.00001
|
NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser)
|
rs139486943
|
0.00001
|
NM_004415.4(DSP):c.7735G>A (p.Asp2579Asn)
|
rs750744914
|
0.00001
|
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys)
|
rs751712837
|
0.00001
|
NM_004415.4(DSP):c.7751G>A (p.Ser2584Asn)
|
rs1186385876
|
0.00001
|
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser)
|
rs563272509
|
0.00001
|
NM_004415.4(DSP):c.7783A>G (p.Thr2595Ala)
|
rs1170072296
|
0.00001
|
NM_004415.4(DSP):c.7784C>T (p.Thr2595Ile)
|
rs772951950
|
0.00001
|
NM_004415.4(DSP):c.7810A>G (p.Ile2604Val)
|
rs1301635888
|
0.00001
|
NM_004415.4(DSP):c.7847C>T (p.Ser2616Leu)
|
rs571577908
|
0.00001
|
NM_004415.4(DSP):c.7855A>G (p.Ile2619Val)
|
rs767630308
|
0.00001
|
NM_004415.4(DSP):c.7864A>G (p.Ile2622Val)
|
rs752616130
|
0.00001
|
NM_004415.4(DSP):c.7876G>C (p.Glu2626Gln)
|
rs144821643
|
0.00001
|
NM_004415.4(DSP):c.7937C>T (p.Thr2646Met)
|
rs1425701789
|
0.00001
|
NM_004415.4(DSP):c.794G>A (p.Arg265Lys)
|
rs1064796438
|
0.00001
|
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met)
|
rs151309106
|
0.00001
|
NM_004415.4(DSP):c.8015A>C (p.Gln2672Pro)
|
rs1060500612
|
0.00001
|
NM_004415.4(DSP):c.8032G>A (p.Gly2678Ser)
|
rs1371748682
|
0.00001
|
NM_004415.4(DSP):c.8050A>G (p.Met2684Val)
|
rs147801650
|
0.00001
|
NM_004415.4(DSP):c.809G>A (p.Arg270Gln)
|
rs1203795810
|
0.00001
|
NM_004415.4(DSP):c.8118G>C (p.Lys2706Asn)
|
rs751201132
|
0.00001
|
NM_004415.4(DSP):c.8174G>A (p.Arg2725His)
|
rs776674939
|
0.00001
|
NM_004415.4(DSP):c.8216C>T (p.Pro2739Leu)
|
rs761527198
|
0.00001
|
NM_004415.4(DSP):c.8221G>A (p.Val2741Met)
|
rs779485431
|
0.00001
|
NM_004415.4(DSP):c.8278G>A (p.Ala2760Thr)
|
rs991726607
|
0.00001
|
NM_004415.4(DSP):c.8309A>G (p.Tyr2770Cys)
|
rs371020228
|
0.00001
|
NM_004415.4(DSP):c.8330C>A (p.Pro2777His)
|
rs376273136
|
0.00001
|
NM_004415.4(DSP):c.8372G>A (p.Arg2791His)
|
rs749339594
|
0.00001
|
NM_004415.4(DSP):c.8390T>C (p.Ile2797Thr)
|
rs769734918
|
0.00001
|
NM_004415.4(DSP):c.8440C>T (p.Pro2814Ser)
|
rs1303168294
|
0.00001
|
NM_004415.4(DSP):c.8477G>A (p.Arg2826His)
|
rs548754771
|
0.00001
|
NM_004415.4(DSP):c.8495G>T (p.Gly2832Val)
|
rs397516970
|
0.00001
|
NM_004415.4(DSP):c.8498C>G (p.Ser2833Cys)
|
rs767961179
|
0.00001
|
NM_004415.4(DSP):c.8608G>A (p.Gly2870Arg)
|
rs1258855325
|
0.00001
|
NM_004415.4(DSP):c.900C>A (p.Asp300Glu)
|
rs374335702
|
0.00001
|
NM_004415.4(DSP):c.946A>G (p.Met316Val)
|
rs201672777
|
0.00001
|
NM_004415.4(DSP):c.965A>G (p.Lys322Arg)
|
rs757098196
|
0.00001
|
NM_005159.5(ACTC1):c.-12A>G
|
rs372036883
|
0.00001
|
NM_005159.5(ACTC1):c.1099G>A (p.Ala367Thr)
|
rs370256882
|
0.00001
|
NM_005159.5(ACTC1):c.129G>A (p.Gln43=)
|
rs878854753
|
0.00001
|
NM_005159.5(ACTC1):c.130-3T>C
|
rs745838366
|
0.00001
|
NM_005159.5(ACTC1):c.454+5G>C
|
rs756249146
|
0.00001
|
NM_005159.5(ACTC1):c.455-6G>A
|
rs1359050330
|
0.00001
|
NM_005159.5(ACTC1):c.5G>A (p.Cys2Tyr)
|
rs1469206760
|
0.00001
|
NM_005159.5(ACTC1):c.994A>G (p.Ile332Val)
|
rs749354463
|
0.00001
|
NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys)
|
rs760392343
|
0.00001
|
NM_006393.3(NEBL):c.503A>T (p.Gln168Leu)
|
rs730880171
|
0.00001
|
NM_007078.3(LDB3):c.1018G>C (p.Ala340Pro)
|
rs755329877
|
0.00001
|
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln)
|
rs150868546
|
0.00001
|
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn)
|
rs397517212
|
0.00001
|
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val)
|
rs755362259
|
0.00001
|
NM_007078.3(LDB3):c.1870G>A (p.Ala624Thr)
|
rs879218802
|
0.00001
|
NM_007078.3(LDB3):c.2119C>T (p.Gln707Ter)
|
rs771316707
|
0.00001
|
NM_007078.3(LDB3):c.54G>T (p.Gln18His)
|
rs149348427
|
0.00001
|
NM_014000.3(VCL):c.163G>T (p.Val55Phe)
|
rs755441334
|
0.00001
|
NM_014000.3(VCL):c.1798A>C (p.Ser600Arg)
|
rs397517236
|
0.00001
|
NM_014000.3(VCL):c.2284C>T (p.Arg762Trp)
|
rs1334643090
|
0.00001
|
NM_014000.3(VCL):c.2834T>C (p.Met945Thr)
|
rs1443843519
|
0.00001
|
NM_014000.3(VCL):c.2867T>G (p.Met956Arg)
|
rs765717598
|
0.00001
|
NM_014000.3(VCL):c.313C>T (p.Arg105Ter)
|
rs397517239
|
0.00001
|
NM_014000.3(VCL):c.625A>T (p.Met209Leu)
|
rs144683137
|
0.00001
|
NM_014391.3(ANKRD1):c.523G>A (p.Ala175Thr)
|
rs914206942
|
0.00001
|
NM_014391.3(ANKRD1):c.651+6C>T
|
rs762041559
|
0.00001
|
NM_014391.3(ANKRD1):c.805C>T (p.Arg269Ter)
|
rs397517254
|
0.00001
|
NM_016203.4(PRKAG2):c.-12C>G
|
rs765372069
|
0.00001
|
NM_016203.4(PRKAG2):c.-6dup
|
rs1203090914
|
0.00001
|
NM_016203.4(PRKAG2):c.1052-6A>G
|
rs772764664
|
0.00001
|
NM_016203.4(PRKAG2):c.1112T>A (p.Phe371Tyr)
|
rs769892556
|
0.00001
|
NM_016203.4(PRKAG2):c.1172T>C (p.Ile391Thr)
|
rs1425296851
|
0.00001
|
NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln)
|
rs139653890
|
0.00001
|
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)
|
rs758756757
|
0.00001
|
NM_016203.4(PRKAG2):c.1255G>A (p.Ala419Thr)
|
rs373919593
|
0.00001
|
NM_016203.4(PRKAG2):c.131C>T (p.Ala44Val)
|
rs730880984
|
0.00001
|
NM_016203.4(PRKAG2):c.1361A>G (p.Glu454Gly)
|
rs940818676
|
0.00001
|
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)
|
rs397517264
|
0.00001
|
NM_016203.4(PRKAG2):c.1450G>C (p.Glu484Gln)
|
rs1469637477
|
0.00001
|
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)
|
rs186114650
|
0.00001
|
NM_016203.4(PRKAG2):c.1502G>A (p.Arg501His)
|
rs144077131
|
0.00001
|
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)
|
rs727504337
|
0.00001
|
NM_016203.4(PRKAG2):c.161G>A (p.Gly54Asp)
|
rs878855019
|
0.00001
|
NM_016203.4(PRKAG2):c.1621A>G (p.Ile541Val)
|
rs1381567996
|
0.00001
|
NM_016203.4(PRKAG2):c.1637C>G (p.Ser546Cys)
|
rs1584912413
|
0.00001
|
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)
|
rs397517267
|
0.00001
|
NM_016203.4(PRKAG2):c.1693G>C (p.Glu565Gln)
|
rs763331532
|
0.00001
|
NM_016203.4(PRKAG2):c.274C>A (p.Pro92Thr)
|
rs1170556084
|
0.00001
|
NM_016203.4(PRKAG2):c.275C>A (p.Pro92His)
|
rs375398155
|
0.00001
|
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)
|
rs1041124171
|
0.00001
|
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu)
|
rs730880985
|
0.00001
|
NM_016203.4(PRKAG2):c.350C>T (p.Ser117Phe)
|
rs372433693
|
0.00001
|
NM_016203.4(PRKAG2):c.355C>T (p.Arg119Ter)
|
rs1177945294
|
0.00001
|
NM_016203.4(PRKAG2):c.376A>G (p.Ile126Val)
|
rs1379819489
|
0.00001
|
NM_016203.4(PRKAG2):c.38A>G (p.Asp13Gly)
|
rs768453540
|
0.00001
|
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg)
|
rs779753891
|
0.00001
|
NM_016203.4(PRKAG2):c.40G>C (p.Val14Leu)
|
rs150188173
|
0.00001
|
NM_016203.4(PRKAG2):c.410A>G (p.Asn137Ser)
|
rs869025498
|
0.00001
|
NM_016203.4(PRKAG2):c.418C>T (p.Pro140Ser)
|
rs755782342
|
0.00001
|
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu)
|
rs397517271
|
0.00001
|
NM_016203.4(PRKAG2):c.466+2T>G
|
rs962806505
|
0.00001
|
NM_016203.4(PRKAG2):c.475C>T (p.Leu159Phe)
|
rs1832795622
|
0.00001
|
NM_016203.4(PRKAG2):c.482C>T (p.Ser161Phe)
|
rs748557485
|
0.00001
|
NM_016203.4(PRKAG2):c.515A>C (p.Gln172Pro)
|
rs969117866
|
0.00001
|
NM_016203.4(PRKAG2):c.541A>C (p.Lys181Gln)
|
rs765259437
|
0.00001
|
NM_016203.4(PRKAG2):c.547G>A (p.Glu183Lys)
|
rs1131692281
|
0.00001
|
NM_016203.4(PRKAG2):c.569G>A (p.Arg190His)
|
rs551795395
|
0.00001
|
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu)
|
rs368522976
|
0.00001
|
NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe)
|
rs267601424
|
0.00001
|
NM_016203.4(PRKAG2):c.640A>G (p.Arg214Gly)
|
rs730880987
|
0.00001
|
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu)
|
rs200181419
|
0.00001
|
NM_016203.4(PRKAG2):c.679A>G (p.Lys227Glu)
|
rs766460601
|
0.00001
|
NM_016203.4(PRKAG2):c.67A>C (p.Lys23Gln)
|
rs780864954
|
0.00001
|
NM_016203.4(PRKAG2):c.68A>G (p.Lys23Arg)
|
rs1280299073
|
0.00001
|
NM_016203.4(PRKAG2):c.713C>T (p.Ala238Val)
|
rs1184637689
|
0.00001
|
NM_016203.4(PRKAG2):c.820G>A (p.Val274Ile)
|
rs917493455
|
0.00001
|
NM_016203.4(PRKAG2):c.866T>C (p.Val289Ala)
|
rs730880975
|
0.00001
|
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)
|
rs775005432
|
0.00001
|
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter)
|
rs374655743
|
0.00001
|
NM_020297.4(ABCC9):c.1456-3T>C
|
rs759866398
|
0.00001
|
NM_020297.4(ABCC9):c.2045G>A (p.Gly682Asp)
|
rs752106985
|
0.00001
|
NM_020297.4(ABCC9):c.2086C>T (p.Pro696Ser)
|
rs183603557
|
0.00001
|
NM_020297.4(ABCC9):c.3051A>G (p.Thr1017=)
|
rs1290109600
|
0.00001
|
NM_020297.4(ABCC9):c.3273G>C (p.Leu1091=)
|
rs144325590
|
0.00001
|
NM_020297.4(ABCC9):c.67T>A (p.Ser23Thr)
|
rs1949497438
|
0.00001
|
NM_020297.4(ABCC9):c.764T>C (p.Met255Thr)
|
rs150627958
|
0.00001
|
NM_020297.4(ABCC9):c.842G>A (p.Arg281Gln)
|
rs753456211
|
0.00001
|
NM_024334.3(TMEM43):c.1000+2T>C
|
rs748618994
|
0.00001
|
NM_024334.3(TMEM43):c.1037T>C (p.Ile346Thr)
|
rs1286798674
|
0.00001
|
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser)
|
rs565997790
|
0.00001
|
NM_024334.3(TMEM43):c.1067C>T (p.Ala356Val)
|
rs1465084342
|
0.00001
|
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met)
|
rs754236206
|
0.00001
|
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser)
|
rs767916602
|
0.00001
|
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp)
|
rs765762863
|
0.00001
|
NM_024334.3(TMEM43):c.1180G>A (p.Val394Met)
|
rs758697367
|
0.00001
|
NM_024334.3(TMEM43):c.118C>G (p.Leu40Val)
|
rs755682525
|
0.00001
|
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His)
|
rs727505249
|
0.00001
|
NM_024334.3(TMEM43):c.167G>A (p.Arg56His)
|
rs747164382
|
0.00001
|
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly)
|
rs1225730180
|
0.00001
|
NM_024334.3(TMEM43):c.208C>T (p.Leu70Phe)
|
rs577359875
|
0.00001
|
NM_024334.3(TMEM43):c.223G>A (p.Asp75Asn)
|
rs138764471
|
0.00001
|
NM_024334.3(TMEM43):c.227G>A (p.Ser76Asn)
|
rs144663367
|
0.00001
|
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala)
|
rs148171303
|
0.00001
|
NM_024334.3(TMEM43):c.251A>G (p.Asn84Ser)
|
rs773605236
|
0.00001
|
NM_024334.3(TMEM43):c.344T>C (p.Leu115Pro)
|
rs376182664
|
0.00001
|
NM_024334.3(TMEM43):c.346C>T (p.Arg116Trp)
|
rs752588115
|
0.00001
|
NM_024334.3(TMEM43):c.353A>G (p.His118Arg)
|
rs796729938
|
0.00001
|
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile)
|
rs754381041
|
0.00001
|
NM_024334.3(TMEM43):c.440A>T (p.Tyr147Phe)
|
rs766312977
|
0.00001
|
NM_024334.3(TMEM43):c.47A>T (p.Lys16Ile)
|
rs770619613
|
0.00001
|
NM_024334.3(TMEM43):c.497G>C (p.Gly166Ala)
|
rs767516734
|
0.00001
|
NM_024334.3(TMEM43):c.500A>G (p.His167Arg)
|
rs775986881
|
0.00001
|
NM_024334.3(TMEM43):c.530C>T (p.Ser177Leu)
|
rs1167948235
|
0.00001
|
NM_024334.3(TMEM43):c.592G>A (p.Asp198Asn)
|
rs1383512011
|
0.00001
|
NM_024334.3(TMEM43):c.646G>A (p.Val216Met)
|
rs143735210
|
0.00001
|
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys)
|
rs562700595
|
0.00001
|
NM_024334.3(TMEM43):c.659G>A (p.Arg220His)
|
rs570836197
|
0.00001
|
NM_024334.3(TMEM43):c.65dup (p.Pro23fs)
|
rs1300909566
|
0.00001
|
NM_024334.3(TMEM43):c.662G>A (p.Arg221His)
|
rs774735646
|
0.00001
|
NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg)
|
rs746183974
|
0.00001
|
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser)
|
rs374202326
|
0.00001
|
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala)
|
rs751419150
|
0.00001
|
NM_024334.3(TMEM43):c.705+5G>T
|
rs754716462
|
0.00001
|
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys)
|
rs150478052
|
0.00001
|
NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn)
|
rs375481688
|
0.00001
|
NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu)
|
rs769969149
|
0.00001
|
NM_024334.3(TMEM43):c.859C>T (p.His287Tyr)
|
rs780299346
|
0.00001
|
NM_024334.3(TMEM43):c.935G>A (p.Arg312Gln)
|
rs201543634
|
0.00001
|
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro)
|
rs1431861933
|
0.00001
|
NM_024334.3(TMEM43):c.959T>G (p.Phe320Cys)
|
rs886787374
|
0.00001
|
NM_024334.3(TMEM43):c.982C>T (p.Arg328Trp)
|
rs561883271
|
0.00001
|
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln)
|
rs185611706
|
0.00001
|
NM_024334.3(TMEM43):c.99G>A (p.Ser33=)
|
rs147710692
|
0.00001
|
NM_024422.6(DSC2):c.1024A>G (p.Ile342Val)
|
rs746745677
|
0.00001
|
NM_024422.6(DSC2):c.1039G>T (p.Asp347Tyr)
|
rs1214725211
|
0.00001
|
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr)
|
rs999869714
|
0.00001
|
NM_024422.6(DSC2):c.1172C>A (p.Ala391Asp)
|
rs1300215880
|
0.00001
|
NM_024422.6(DSC2):c.1309G>C (p.Val437Leu)
|
rs775579662
|
0.00001
|
NM_024422.6(DSC2):c.1315A>G (p.Asn439Asp)
|
rs148712725
|
0.00001
|
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr)
|
rs1467311353
|
0.00001
|
NM_024422.6(DSC2):c.1399G>C (p.Glu467Gln)
|
rs1208470556
|
0.00001
|
NM_024422.6(DSC2):c.1421C>T (p.Pro474Leu)
|
rs776398212
|
0.00001
|
NM_024422.6(DSC2):c.1435C>T (p.Arg479Cys)
|
rs138761522
|
0.00001
|
NM_024422.6(DSC2):c.1438A>C (p.Met480Leu)
|
rs370616107
|
0.00001
|
NM_024422.6(DSC2):c.1469G>A (p.Ser490Asn)
|
rs780446276
|
0.00001
|
NM_024422.6(DSC2):c.146T>C (p.Val49Ala)
|
rs1275514075
|
0.00001
|
NM_024422.6(DSC2):c.14G>T (p.Arg5Leu)
|
rs899009158
|
0.00001
|
NM_024422.6(DSC2):c.1506T>A (p.Ser502Arg)
|
rs756803622
|
0.00001
|
NM_024422.6(DSC2):c.1547G>A (p.Gly516Glu)
|
rs1402893994
|
0.00001
|
NM_024422.6(DSC2):c.1568A>G (p.Asn523Ser)
|
rs766187198
|
0.00001
|
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val)
|
rs756058875
|
0.00001
|
NM_024422.6(DSC2):c.1581C>G (p.Ile527Met)
|
rs750329563
|
0.00001
|
NM_024422.6(DSC2):c.1627G>A (p.Gly543Ser)
|
rs1418248949
|
0.00001
|
NM_024422.6(DSC2):c.1628G>A (p.Gly543Asp)
|
rs977709312
|
0.00001
|
NM_024422.6(DSC2):c.1634A>G (p.Tyr545Cys)
|
rs776917359
|
0.00001
|
NM_024422.6(DSC2):c.1663G>A (p.Gly555Arg)
|
rs1598580423
|
0.00001
|
NM_024422.6(DSC2):c.1679C>T (p.Thr560Met)
|
rs772775522
|
0.00001
|
NM_024422.6(DSC2):c.1693A>G (p.Ile565Val)
|
rs780712159
|
0.00001
|
NM_024422.6(DSC2):c.1697T>C (p.Ile566Thr)
|
rs1399123480
|
0.00001
|
NM_024422.6(DSC2):c.1712A>G (p.Asn571Ser)
|
rs1462605063
|
0.00001
|
NM_024422.6(DSC2):c.1760C>T (p.Pro587Leu)
|
rs761123301
|
0.00001
|
NM_024422.6(DSC2):c.1783G>A (p.Val595Ile)
|
rs1447974524
|
0.00001
|
NM_024422.6(DSC2):c.1796C>G (p.Pro599Arg)
|
rs377384219
|
0.00001
|
NM_024422.6(DSC2):c.1910A>G (p.Tyr637Cys)
|
rs758990451
|
0.00001
|
NM_024422.6(DSC2):c.2039G>T (p.Arg680Leu)
|
rs374002111
|
0.00001
|
NM_024422.6(DSC2):c.2108G>T (p.Gly703Val)
|
rs1218967716
|
0.00001
|
NM_024422.6(DSC2):c.2158G>C (p.Gly720Arg)
|
rs1170934513
|
0.00001
|
NM_024422.6(DSC2):c.2206A>G (p.Asn736Asp)
|
rs371950232
|
0.00001
|
NM_024422.6(DSC2):c.2231C>T (p.Ala744Val)
|
rs758269321
|
0.00001
|
NM_024422.6(DSC2):c.2258C>T (p.Ala753Val)
|
rs1217851416
|
0.00001
|
NM_024422.6(DSC2):c.2300G>A (p.Gly767Glu)
|
rs772898155
|
0.00001
|
NM_024422.6(DSC2):c.2318G>C (p.Gly773Ala)
|
rs749174176
|
0.00001
|
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met)
|
rs1789054
|
0.00001
|
NM_024422.6(DSC2):c.2342A>G (p.Gln781Arg)
|
rs1244664122
|
0.00001
|
NM_024422.6(DSC2):c.2353G>A (p.Glu785Lys)
|
rs752873618
|
0.00001
|
NM_024422.6(DSC2):c.2354A>G (p.Glu785Gly)
|
rs769747496
|
0.00001
|
NM_024422.6(DSC2):c.2357T>C (p.Met786Thr)
|
rs397517398
|
0.00001
|
NM_024422.6(DSC2):c.2368G>A (p.Gly790Arg)
|
rs1335955296
|
0.00001
|
NM_024422.6(DSC2):c.2419G>C (p.Asp807His)
|
rs748323101
|
0.00001
|
NM_024422.6(DSC2):c.2441C>T (p.Thr814Met)
|
rs756497616
|
0.00001
|
NM_024422.6(DSC2):c.2452A>G (p.Asn818Asp)
|
rs1454999415
|
0.00001
|
NM_024422.6(DSC2):c.2512G>A (p.Val838Met)
|
rs1986695514
|
0.00001
|
NM_024422.6(DSC2):c.2597C>G (p.Ala866Gly)
|
rs760363798
|
0.00001
|
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter)
|
rs727504823
|
0.00001
|
NM_024422.6(DSC2):c.2626C>G (p.Gln876Glu)
|
rs727504906
|
0.00001
|
NM_024422.6(DSC2):c.2692T>C (p.Cys898Arg)
|
rs1027240725
|
0.00001
|
NM_024422.6(DSC2):c.2694C>A (p.Cys898Ter)
|
rs1986684188
|
0.00001
|
NM_024422.6(DSC2):c.26C>G (p.Ser9Cys)
|
rs794728064
|
0.00001
|
NM_024422.6(DSC2):c.327A>G (p.Ile109Met)
|
rs373305929
|
0.00001
|
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn)
|
rs762877422
|
0.00001
|
NM_024422.6(DSC2):c.373A>G (p.Thr125Ala)
|
rs369061469
|
0.00001
|
NM_024422.6(DSC2):c.412G>A (p.Ala138Thr)
|
rs1405349273
|
0.00001
|
NM_024422.6(DSC2):c.474+5C>T
|
rs397517400
|
0.00001
|
NM_024422.6(DSC2):c.47G>A (p.Arg16Gln)
|
rs869025386
|
0.00001
|
NM_024422.6(DSC2):c.488C>T (p.Thr163Met)
|
rs758759298
|
0.00001
|
NM_024422.6(DSC2):c.509A>G (p.Tyr170Cys)
|
rs759910399
|
0.00001
|
NM_024422.6(DSC2):c.517A>T (p.Ile173Leu)
|
rs766855728
|
0.00001
|
NM_024422.6(DSC2):c.587A>G (p.Tyr196Cys)
|
rs1987518387
|
0.00001
|
NM_024422.6(DSC2):c.608G>A (p.Arg203His)
|
rs758527425
|
0.00001
|
NM_024422.6(DSC2):c.617A>G (p.Tyr206Cys)
|
rs753004247
|
0.00001
|
NM_024422.6(DSC2):c.62C>A (p.Thr21Asn)
|
rs931909783
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_024422.6(DSC2):c.638C>T (p.Ala213Val)
|
rs1299475740
|
0.00001
|
NM_024422.6(DSC2):c.662A>G (p.Tyr221Cys)
|
rs1265924444
|
0.00001
|
NM_024422.6(DSC2):c.69+1G>A
|
rs1245669690
|
0.00001
|
NM_024422.6(DSC2):c.70A>G (p.Ile24Val)
|
rs1228372400
|
0.00001
|
NM_024422.6(DSC2):c.740C>A (p.Thr247Asn)
|
rs1171077859
|
0.00001
|
NM_024422.6(DSC2):c.769A>G (p.Arg257Gly)
|
rs1253861748
|
0.00001
|
NM_024422.6(DSC2):c.836G>A (p.Arg279His)
|
rs775614779
|
0.00001
|
NM_024422.6(DSC2):c.872C>T (p.Ser291Leu)
|
rs755952123
|
0.00001
|
NM_024422.6(DSC2):c.880C>A (p.Leu294Ile)
|
rs761796202
|
0.00001
|
NM_024422.6(DSC2):c.893A>T (p.His298Leu)
|
rs397517407
|
0.00001
|
NM_024422.6(DSC2):c.901A>G (p.Thr301Ala)
|
rs576466497
|
0.00001
|
NM_024422.6(DSC2):c.949G>A (p.Asp317Asn)
|
rs769219956
|
0.00001
|
NM_033337.3(CAV3):c.-2C>T
|
rs772475990
|
0.00001
|
NM_033337.3(CAV3):c.169G>A (p.Val57Met)
|
rs116840795
|
0.00001
|
NM_033337.3(CAV3):c.221G>A (p.Arg74His)
|
rs201893621
|
0.00001
|
NM_144573.4(NEXN):c.1234A>G (p.Arg412Gly)
|
rs768693715
|
0.00001
|
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile)
|
rs200442502
|
0.00001
|
NM_144573.4(NEXN):c.1364T>C (p.Ile455Thr)
|
rs1338886488
|
0.00001
|
NM_144573.4(NEXN):c.1430T>C (p.Ile477Thr)
|
rs727504658
|
0.00001
|
NM_144573.4(NEXN):c.1489G>A (p.Val497Ile)
|
rs778330292
|
0.00001
|
NM_144573.4(NEXN):c.1642G>A (p.Asp548Asn)
|
rs1404772841
|
0.00001
|
NM_144573.4(NEXN):c.1653A>G (p.Leu551=)
|
rs794727078
|
0.00001
|
NM_144573.4(NEXN):c.1664_1666del (p.Arg555_Glu556delinsLys)
|
rs1221963637
|
0.00001
|
NM_144573.4(NEXN):c.1720G>A (p.Glu574Lys)
|
rs756408591
|
0.00001
|
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg)
|
rs876657929
|
0.00001
|
NM_144573.4(NEXN):c.2019T>A (p.Ser673Arg)
|
rs539689450
|
0.00001
|
NM_144573.4(NEXN):c.299-3T>C
|
rs397517856
|
0.00001
|
NM_144573.4(NEXN):c.341_342del (p.Gln114fs)
|
rs397517857
|
0.00001
|
NM_144573.4(NEXN):c.373C>T (p.Arg125Ter)
|
rs773500471
|
0.00001
|
NM_144573.4(NEXN):c.421C>T (p.Arg141Cys)
|
rs536537549
|
0.00001
|
NM_144573.4(NEXN):c.620A>G (p.Asp207Gly)
|
rs570946423
|
0.00001
|
NM_144573.4(NEXN):c.906T>A (p.Phe302Leu)
|
rs767740199
|
0.00001
|
NM_144573.4(NEXN):c.916C>T (p.Arg306Cys)
|
rs765051104
|
0.00001
|
NM_144573.4(NEXN):c.917G>A (p.Arg306His)
|
rs758055856
|
0.00001
|
NM_170707.4(LMNA):c.-4G>A
|
rs1205781706
|
0.00001
|
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp)
|
rs749784223
|
0.00001
|
NM_170707.4(LMNA):c.1195C>T (p.Arg399Cys)
|
rs58672172
|
0.00001
|
NM_170707.4(LMNA):c.1231G>T (p.Gly411Cys)
|
rs727504852
|
0.00001
|
NM_170707.4(LMNA):c.1234G>C (p.Gly412Arg)
|
rs966050612
|
0.00001
|
NM_170707.4(LMNA):c.1262T>C (p.Leu421Pro)
|
rs267607564
|
0.00001
|
NM_170707.4(LMNA):c.1270A>G (p.Thr424Ala)
|
rs1166140426
|
0.00001
|
NM_170707.4(LMNA):c.1303C>T (p.Arg435Cys)
|
rs150840924
|
0.00001
|
NM_170707.4(LMNA):c.1306A>G (p.Thr436Ala)
|
rs876657849
|
0.00001
|
NM_170707.4(LMNA):c.1315C>T (p.Arg439Cys)
|
rs62636506
|
0.00001
|
NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln)
|
rs267607598
|
0.00001
|
NM_170707.4(LMNA):c.1363C>T (p.Arg455Cys)
|
rs397517892
|
0.00001
|
NM_170707.4(LMNA):c.1364G>A (p.Arg455His)
|
rs267607597
|
0.00001
|
NM_170707.4(LMNA):c.1381G>T (p.Asp461Tyr)
|
rs267607642
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met)
|
rs200466188
|
0.00001
|
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys)
|
rs57318642
|
0.00001
|
NM_170707.4(LMNA):c.1583C>T (p.Thr528Met)
|
rs57629361
|
0.00001
|
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser)
|
rs144740174
|
0.00001
|
NM_170707.4(LMNA):c.1604G>A (p.Gly535Glu)
|
rs747717293
|
0.00001
|
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys)
|
rs267607613
|
0.00001
|
NM_170707.4(LMNA):c.1660G>A (p.Glu554Lys)
|
rs71630616
|
0.00001
|
NM_170707.4(LMNA):c.1699-8C>G
|
rs727503137
|
0.00001
|
NM_170707.4(LMNA):c.1729G>A (p.Ala577Thr)
|
rs1439261714
|
0.00001
|
NM_170707.4(LMNA):c.1745G>A (p.Arg582His)
|
rs57830985
|
0.00001
|
NM_170707.4(LMNA):c.1750C>T (p.Arg584Cys)
|
rs578193315
|
0.00001
|
NM_170707.4(LMNA):c.1751G>A (p.Arg584His)
|
rs56657623
|
0.00001
|
NM_170707.4(LMNA):c.1765G>A (p.Gly589Arg)
|
rs372201662
|
0.00001
|
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)
|
rs769561386
|
0.00001
|
NM_170707.4(LMNA):c.1822G>T (p.Gly608Cys)
|
rs61064130
|
0.00001
|
NM_170707.4(LMNA):c.1825G>A (p.Gly609Arg)
|
rs397517898
|
0.00001
|
NM_170707.4(LMNA):c.1867A>G (p.Thr623Ala)
|
rs757888891
|
0.00001
|
NM_170707.4(LMNA):c.1871G>A (p.Arg624His)
|
rs13768
|
0.00001
|
NM_170707.4(LMNA):c.1880G>A (p.Arg627His)
|
rs745997478
|
0.00001
|
NM_170707.4(LMNA):c.1891G>A (p.Gly631Ser)
|
rs951584348
|
0.00001
|
NM_170707.4(LMNA):c.1961G>A (p.Arg654Gln)
|
rs768986279
|
0.00001
|
NM_170707.4(LMNA):c.20G>A (p.Arg7Gln)
|
rs751916168
|
0.00001
|
NM_170707.4(LMNA):c.215G>A (p.Arg72His)
|
rs727504340
|
0.00001
|
NM_170707.4(LMNA):c.23G>A (p.Arg8His)
|
rs1329278578
|
0.00001
|
NM_170707.4(LMNA):c.293A>G (p.Glu98Gly)
|
rs1441670218
|
0.00001
|
NM_170707.4(LMNA):c.328C>A (p.Arg110Ser)
|
rs1064797121
|
0.00001
|
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln)
|
rs60864230
|
0.00001
|
NM_170707.4(LMNA):c.480C>T (p.Gly160=)
|
rs758848135
|
0.00001
|
NM_170707.4(LMNA):c.496C>T (p.Arg166Trp)
|
rs370200334
|
0.00001
|
NM_170707.4(LMNA):c.565C>T (p.Arg189Trp)
|
rs267607626
|
0.00001
|
NM_170707.4(LMNA):c.632A>G (p.Tyr211Cys)
|
rs987157491
|
0.00001
|
NM_170707.4(LMNA):c.659G>A (p.Arg220His)
|
rs780066296
|
0.00001
|
NM_170707.4(LMNA):c.65C>T (p.Ser22Leu)
|
rs1016767319
|
0.00001
|
NM_170707.4(LMNA):c.704G>A (p.Arg235His)
|
rs759829161
|
0.00001
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
NM_170707.4(LMNA):c.749C>T (p.Ala250Val)
|
rs397517907
|
0.00001
|
NM_170707.4(LMNA):c.835G>A (p.Glu279Lys)
|
rs1651446094
|
0.00001
|
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr)
|
rs267607574
|
0.00001
|
NM_170707.4(LMNA):c.953C>T (p.Ala318Val)
|
rs1212920276
|
0.00001
|
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp)
|
rs879253898
|
0.00001
|
NC_000001.11:g.156115286C>T
|
|
|
NM_000117.3(EMD):c.143T>G (p.Leu48Arg)
|
rs2148128160
|
|
NM_000117.3(EMD):c.264G>C (p.Lys88Asn)
|
|
|
NM_000117.3(EMD):c.352C>T (p.Arg118Cys)
|
rs781847968
|
|
NM_000117.3(EMD):c.562A>C (p.Thr188Pro)
|
rs1557182639
|
|
NM_000117.3(EMD):c.759C>G (p.Pro253=)
|
rs1569552110
|
|
NM_000169.3(GLA):c.1234A>G (p.Thr412Ala)
|
rs2147470521
|
|
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp)
|
rs879254061
|
|
NM_000169.3(GLA):c.639+3G>A
|
rs1569303777
|
|
NM_000169.3(GLA):c.659G>A (p.Arg220Gln)
|
rs869312378
|
|
NM_000169.3(GLA):c.70T>A (p.Trp24Arg)
|
rs397515871
|
|
NM_000256.3(MYBPC3):c.*2C>G
|
|
|
NM_000256.3(MYBPC3):c.*3_*15del
|
rs2095876441
|
|
NM_000256.3(MYBPC3):c.1008C>G (p.Ile336Met)
|
rs397515880
|
|
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=)
|
rs397515880
|
|
NM_000256.3(MYBPC3):c.1010C>T (p.Ala337Val)
|
rs1356431718
|
|
NM_000256.3(MYBPC3):c.1017G>A (p.Gln339=)
|
|
|
NM_000256.3(MYBPC3):c.1028C>T (p.Thr343Ile)
|
|
|
NM_000256.3(MYBPC3):c.1031A>G (p.Asp344Gly)
|
rs2095893984
|
|
NM_000256.3(MYBPC3):c.1036C>T (p.Arg346Cys)
|
rs1236178301
|
|
NM_000256.3(MYBPC3):c.1061G>T (p.Gly354Val)
|
|
|
NM_000256.3(MYBPC3):c.1072G>T (p.Asp358Tyr)
|
rs746267533
|
|
NM_000256.3(MYBPC3):c.1076A>G (p.Glu359Gly)
|
rs2095893888
|
|
NM_000256.3(MYBPC3):c.1076AGA[2] (p.Lys361del)
|
rs775069579
|
|
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly)
|
rs730880633
|
|
NM_000256.3(MYBPC3):c.1091-14G>A
|
|
|
NM_000256.3(MYBPC3):c.1091-7T>C
|
rs2142862333
|
|
NM_000256.3(MYBPC3):c.109G>A (p.Gly37Arg)
|
rs2142869753
|
|
NM_000256.3(MYBPC3):c.1115C>T (p.Ala372Val)
|
rs2095891415
|
|
NM_000256.3(MYBPC3):c.1122G>C (p.Gln374His)
|
|
|
NM_000256.3(MYBPC3):c.1140G>T (p.Lys380Asn)
|
rs2095891372
|
|
NM_000256.3(MYBPC3):c.1151C>T (p.Thr384Ile)
|
rs2095891335
|
|
NM_000256.3(MYBPC3):c.1153G>C (p.Val385Leu)
|
|
|
NM_000256.3(MYBPC3):c.1166A>T (p.Asp389Val)
|
rs1412710023
|
|
NM_000256.3(MYBPC3):c.1167C>G (p.Asp389Glu)
|
rs1292522713
|
|
NM_000256.3(MYBPC3):c.1169A>C (p.His390Pro)
|
|
|
NM_000256.3(MYBPC3):c.1188G>T (p.Trp396Cys)
|
rs397515890
|
|
NM_000256.3(MYBPC3):c.1195A>G (p.Asn399Asp)
|
rs2142862196
|
|
NM_000256.3(MYBPC3):c.1217G>A (p.Ser406Asn)
|
rs1053965064
|
|
NM_000256.3(MYBPC3):c.1222A>G (p.Ser408Gly)
|
rs730880638
|
|
NM_000256.3(MYBPC3):c.1223+4C>T
|
rs1348810506
|
|
NM_000256.3(MYBPC3):c.1224-61_1224-53dup
|
rs1565628380
|
|
NM_000256.3(MYBPC3):c.1227-10C>G
|
|
|
NM_000256.3(MYBPC3):c.1227-6A>G
|
rs1595846573
|
|
NM_000256.3(MYBPC3):c.122G>T (p.Arg41Leu)
|
|
|
NM_000256.3(MYBPC3):c.1246G>T (p.Gly416Cys)
|
|
|
NM_000256.3(MYBPC3):c.1254G>C (p.Lys418Asn)
|
rs2095890764
|
|
NM_000256.3(MYBPC3):c.1255C>A (p.Arg419Ser)
|
rs368770848
|
|
NM_000256.3(MYBPC3):c.1300T>C (p.Tyr434His)
|
|
|
NM_000256.3(MYBPC3):c.1305G>T (p.Gln435His)
|
|
|
NM_000256.3(MYBPC3):c.130C>T (p.Arg44Cys)
|
rs557439091
|
|
NM_000256.3(MYBPC3):c.1312G>C (p.Val438Leu)
|
|
|
NM_000256.3(MYBPC3):c.1315G>A (p.Gly439Ser)
|
rs2095890672
|
|
NM_000256.3(MYBPC3):c.1350A>G (p.Lys450=)
|
|
|
NM_000256.3(MYBPC3):c.1352-13C>G
|
rs1349916237
|
|
NM_000256.3(MYBPC3):c.1355C>A (p.Pro452His)
|
rs730880536
|
|
NM_000256.3(MYBPC3):c.1363C>G (p.Leu455Val)
|
rs747686377
|
|
NM_000256.3(MYBPC3):c.1375C>G (p.Pro459Ala)
|
rs758901980
|
|
NM_000256.3(MYBPC3):c.1383G>C (p.Glu461Asp)
|
rs1486640299
|
|
NM_000256.3(MYBPC3):c.1396A>G (p.Met466Val)
|
rs2142861425
|
|
NM_000256.3(MYBPC3):c.139A>G (p.Ser47Gly)
|
rs1267396024
|
|
NM_000256.3(MYBPC3):c.13G>T (p.Gly5Trp)
|
rs201278114
|
|
NM_000256.3(MYBPC3):c.1408C>T (p.Arg470Trp)
|
rs1595846365
|
|
NM_000256.3(MYBPC3):c.1411G>C (p.Val471Leu)
|
rs1378189986
|
|
NM_000256.3(MYBPC3):c.1422G>C (p.Glu474Asp)
|
rs397515901
|
|
NM_000256.3(MYBPC3):c.1441G>C (p.Gly481Arg)
|
rs2095890302
|
|
NM_000256.3(MYBPC3):c.1456T>G (p.Trp486Gly)
|
rs397515902
|
|
NM_000256.3(MYBPC3):c.1457+4A>G
|
rs886039119
|
|
NM_000256.3(MYBPC3):c.1458-18ACCC[4]
|
rs778947597
|
|
NM_000256.3(MYBPC3):c.1461G>A (p.Leu487=)
|
rs1565627976
|
|
NM_000256.3(MYBPC3):c.1466_1468dup (p.Asp489dup)
|
rs2095890089
|
|
NM_000256.3(MYBPC3):c.1467C>G (p.Asp489Glu)
|
rs35690719
|
|
NM_000256.3(MYBPC3):c.146_148del (p.Ile49del)
|
rs781207661
|
|
NM_000256.3(MYBPC3):c.147C>G (p.Ile49Met)
|
rs774273586
|
|
NM_000256.3(MYBPC3):c.1495T>C (p.Phe499Leu)
|
rs2095890036
|
|
NM_000256.3(MYBPC3):c.1502A>G (p.Tyr501Cys)
|
rs1595846231
|
|
NM_000256.3(MYBPC3):c.150C>A (p.Ser50Arg)
|
rs368918487
|
|
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del)
|
rs727504287
|
|
NM_000256.3(MYBPC3):c.1519G>C (p.Gly507Arg)
|
|
|
NM_000256.3(MYBPC3):c.151G>A (p.Ala51Thr)
|
rs534282225
|
|
NM_000256.3(MYBPC3):c.151G>T (p.Ala51Ser)
|
rs534282225
|
|
NM_000256.3(MYBPC3):c.1531C>A (p.His511Asn)
|
rs2095889971
|
|
NM_000256.3(MYBPC3):c.1533C>G (p.His511Gln)
|
|
|
NM_000256.3(MYBPC3):c.1543_1545del (p.Asn515del)
|
rs730880643
|
|
NM_000256.3(MYBPC3):c.1546G>A (p.Glu516Lys)
|
rs730880545
|
|
NM_000256.3(MYBPC3):c.1576G>A (p.Ala526Thr)
|
rs2095889889
|
|
NM_000256.3(MYBPC3):c.1579C>A (p.Leu527Met)
|
|
|
NM_000256.3(MYBPC3):c.1615A>G (p.Ile539Val)
|
|
|
NM_000256.3(MYBPC3):c.1616T>G (p.Ile539Ser)
|
rs1158024707
|
|
NM_000256.3(MYBPC3):c.1654G>A (p.Ala552Thr)
|
rs727504887
|
|
NM_000256.3(MYBPC3):c.1666G>T (p.Val556Leu)
|
rs2142860299
|
|
NM_000256.3(MYBPC3):c.1675A>G (p.Lys559Glu)
|
rs2095889250
|
|
NM_000256.3(MYBPC3):c.1678G>C (p.Asp560His)
|
|
|
NM_000256.3(MYBPC3):c.1685C>A (p.Ala562Glu)
|
rs730880694
|
|
NM_000256.3(MYBPC3):c.1687G>A (p.Val563Met)
|
rs2142860254
|
|
NM_000256.3(MYBPC3):c.1696T>A (p.Cys566Ser)
|
rs730880695
|
|
NM_000256.3(MYBPC3):c.1720C>T (p.Arg574Trp)
|
rs61897383
|
|
NM_000256.3(MYBPC3):c.1721G>T (p.Arg574Leu)
|
rs397515922
|
|
NM_000256.3(MYBPC3):c.1766G>T (p.Arg589Leu)
|
|
|
NM_000256.3(MYBPC3):c.1819A>T (p.Thr607Ser)
|
rs2095888220
|
|
NM_000256.3(MYBPC3):c.1822C>T (p.Pro608Ser)
|
rs730880552
|
|
NM_000256.3(MYBPC3):c.1827C>G (p.Ala609=)
|
rs535853707
|
|
NM_000256.3(MYBPC3):c.1827CGA[1] (p.Asp610del)
|
rs2142859322
|
|
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn)
|
rs371564200
|
|
NM_000256.3(MYBPC3):c.1828G>T (p.Asp610Tyr)
|
rs371564200
|
|
NM_000256.3(MYBPC3):c.1830C>G (p.Asp610Glu)
|
rs768049705
|
|
NM_000256.3(MYBPC3):c.1832A>G (p.Glu611Gly)
|
rs2142859317
|
|
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys)
|
rs727503194
|
|
NM_000256.3(MYBPC3):c.1845C>G (p.Ser615Arg)
|
|
|
NM_000256.3(MYBPC3):c.1850T>C (p.Val617Ala)
|
rs898001027
|
|
NM_000256.3(MYBPC3):c.1864G>A (p.Ala622Thr)
|
rs1489679460
|
|
NM_000256.3(MYBPC3):c.1880C>G (p.Ala627Gly)
|
|
|
NM_000256.3(MYBPC3):c.1898-3C>G
|
|
|
NM_000256.3(MYBPC3):c.1898-4G>T
|
rs2095887900
|
|
NM_000256.3(MYBPC3):c.1899G>C (p.Glu633Asp)
|
rs1206508060
|
|
NM_000256.3(MYBPC3):c.1919C>T (p.Pro640Leu)
|
rs755244836
|
|
NM_000256.3(MYBPC3):c.1922G>A (p.Arg641Lys)
|
|
|
NM_000256.3(MYBPC3):c.1933C>T (p.Pro645Ser)
|
|
|
NM_000256.3(MYBPC3):c.194C>T (p.Thr65Met)
|
rs753300898
|
|
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His)
|
rs1800565
|
|
NM_000256.3(MYBPC3):c.1965A>G (p.Ile655Met)
|
|
|
NM_000256.3(MYBPC3):c.1972A>G (p.Thr658Ala)
|
|
|
NM_000256.3(MYBPC3):c.1991G>T (p.Gly664Val)
|
rs2095886397
|
|
NM_000256.3(MYBPC3):c.1A>T (p.Met1Leu)
|
rs1461764618
|
|
NM_000256.3(MYBPC3):c.2005C>A (p.Leu669Met)
|
rs1565626407
|
|
NM_000256.3(MYBPC3):c.2019C>G (p.Ile673Met)
|
rs746263346
|
|
NM_000256.3(MYBPC3):c.202G>A (p.Val68Met)
|
rs1199851911
|
|
NM_000256.3(MYBPC3):c.2033C>A (p.Ala678Asp)
|
|
|
NM_000256.3(MYBPC3):c.2039C>T (p.Thr680Ile)
|
rs2142857616
|
|
NM_000256.3(MYBPC3):c.203T>C (p.Val68Ala)
|
rs2095900715
|
|
NM_000256.3(MYBPC3):c.2063C>T (p.Thr688Met)
|
rs3729946
|
|
NM_000256.3(MYBPC3):c.2077G>T (p.Ala693Ser)
|
rs771753579
|
|
NM_000256.3(MYBPC3):c.2078C>T (p.Ala693Val)
|
rs896073779
|
|
NM_000256.3(MYBPC3):c.2081C>G (p.Pro694Arg)
|
rs1448112841
|
|
NM_000256.3(MYBPC3):c.2084C>G (p.Ala695Gly)
|
rs2095885936
|
|
NM_000256.3(MYBPC3):c.2098G>A (p.Asp700Asn)
|
rs2095885920
|
|
NM_000256.3(MYBPC3):c.2113A>G (p.Thr705Ala)
|
rs2059051476
|
|
NM_000256.3(MYBPC3):c.2117G>A (p.Gly706Asp)
|
rs1565626231
|
|
NM_000256.3(MYBPC3):c.2120A>G (p.Asp707Gly)
|
rs2095885891
|
|
NM_000256.3(MYBPC3):c.2134G>T (p.Val712Leu)
|
|
|
NM_000256.3(MYBPC3):c.2149-5C>G
|
rs36211722
|
|
NM_000256.3(MYBPC3):c.2177G>T (p.Arg726Leu)
|
|
|
NM_000256.3(MYBPC3):c.2179G>C (p.Val727Leu)
|
rs564378953
|
|
NM_000256.3(MYBPC3):c.2198G>T (p.Arg733Leu)
|
rs534345197
|
|
NM_000256.3(MYBPC3):c.2215G>A (p.Glu739Lys)
|
|
|
NM_000256.3(MYBPC3):c.2217G>T (p.Glu739Asp)
|
rs786204348
|
|
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly)
|
rs727503190
|
|
NM_000256.3(MYBPC3):c.2240G>T (p.Gly747Val)
|
|
|
NM_000256.3(MYBPC3):c.2242G>A (p.Val748Ile)
|
rs730880563
|
|
NM_000256.3(MYBPC3):c.2277_2278delinsAC (p.Asp760His)
|
|
|
NM_000256.3(MYBPC3):c.2290C>G (p.Leu764Val)
|
rs2095884916
|
|
NM_000256.3(MYBPC3):c.2291T>G (p.Leu764Arg)
|
rs2142856528
|
|
NM_000256.3(MYBPC3):c.2318A>T (p.Asp773Val)
|
rs2142855771
|
|
NM_000256.3(MYBPC3):c.2320G>C (p.Ala774Pro)
|
|
|
NM_000256.3(MYBPC3):c.2326G>A (p.Ala776Thr)
|
rs1247018816
|
|
NM_000256.3(MYBPC3):c.2339T>C (p.Ile780Thr)
|
rs747912257
|
|
NM_000256.3(MYBPC3):c.2350G>A (p.Gly784Arg)
|
rs1436008394
|
|
NM_000256.3(MYBPC3):c.2351G>A (p.Gly784Glu)
|
rs931275955
|
|
NM_000256.3(MYBPC3):c.2356G>T (p.Asp786Tyr)
|
rs2142855728
|
|
NM_000256.3(MYBPC3):c.2357A>G (p.Asp786Gly)
|
rs1595843879
|
|
NM_000256.3(MYBPC3):c.2360_2362dup (p.Ser787dup)
|
rs2095883988
|
|
NM_000256.3(MYBPC3):c.236A>G (p.Tyr79Cys)
|
rs2095900637
|
|
NM_000256.3(MYBPC3):c.2375G>T (p.Trp792Leu)
|
|
|
NM_000256.3(MYBPC3):c.238G>A (p.Ala80Thr)
|
rs730880700
|
|
NM_000256.3(MYBPC3):c.238G>C (p.Ala80Pro)
|
rs730880700
|
|
NM_000256.3(MYBPC3):c.238G>T (p.Ala80Ser)
|
rs730880700
|
|
NM_000256.3(MYBPC3):c.2396G>A (p.Gly799Asp)
|
rs2095883919
|
|
NM_000256.3(MYBPC3):c.239delinsGAGG (p.Ala80delinsGlyGly)
|
rs727504335
|
|
NM_000256.3(MYBPC3):c.2409C>G (p.Ile803Met)
|
rs202088839
|
|
NM_000256.3(MYBPC3):c.2414-3C>T
|
rs2142855549
|
|
NM_000256.3(MYBPC3):c.2414-9del
|
|
|
NM_000256.3(MYBPC3):c.2417A>G (p.Tyr806Cys)
|
rs979085643
|
|
NM_000256.3(MYBPC3):c.241G>T (p.Val81Phe)
|
rs999833111
|
|
NM_000256.3(MYBPC3):c.2423T>C (p.Leu808Pro)
|
rs2142855537
|
|
NM_000256.3(MYBPC3):c.2432A>G (p.Lys811Arg)
|
rs1338707268
|
|
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del)
|
rs727504288
|
|
NM_000256.3(MYBPC3):c.2441A>G (p.Lys814Arg)
|
rs1565625356
|
|
NM_000256.3(MYBPC3):c.2447A>G (p.Tyr816Cys)
|
rs1565625347
|
|
NM_000256.3(MYBPC3):c.2449C>G (p.Arg817Gly)
|
rs727503188
|
|
NM_000256.3(MYBPC3):c.2450G>C (p.Arg817Pro)
|
rs397515964
|
|
NM_000256.3(MYBPC3):c.2450G>T (p.Arg817Leu)
|
rs397515964
|
|
NM_000256.3(MYBPC3):c.2456T>C (p.Met819Thr)
|
rs876657870
|
|
NM_000256.3(MYBPC3):c.2470G>A (p.Asp824Asn)
|
rs774442478
|
|
NM_000256.3(MYBPC3):c.2479C>A (p.Gln827Lys)
|
rs375322174
|
|
NM_000256.3(MYBPC3):c.2482G>C (p.Glu828Gln)
|
rs770514536
|
|
NM_000256.3(MYBPC3):c.2499GCG[1] (p.Arg835del)
|
rs2095883548
|
|
NM_000256.3(MYBPC3):c.25+10G>A
|
rs368489793
|
|
NM_000256.3(MYBPC3):c.2501G>A (p.Arg834Gln)
|
|
|
NM_000256.3(MYBPC3):c.2504_2505delinsTT (p.Arg835Leu)
|
rs1595843667
|
|
NM_000256.3(MYBPC3):c.2506A>G (p.Met836Val)
|
|
|
NM_000256.3(MYBPC3):c.2533C>G (p.Arg845Gly)
|
rs727504345
|
|
NM_000256.3(MYBPC3):c.2534G>C (p.Arg845Pro)
|
rs730880568
|
|
NM_000256.3(MYBPC3):c.2536G>C (p.Val846Leu)
|
rs747774791
|
|
NM_000256.3(MYBPC3):c.2540A>G (p.Tyr847Cys)
|
rs864622071
|
|
NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly)
|
rs730880569
|
|
NM_000256.3(MYBPC3):c.2560A>T (p.Met854Leu)
|
rs373171036
|
|
NM_000256.3(MYBPC3):c.2587C>T (p.Pro863Ser)
|
rs2095883304
|
|
NM_000256.3(MYBPC3):c.2602+9G>A
|
rs960769310
|
|
NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser)
|
rs775890771
|
|
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)
|
rs371401403
|
|
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu)
|
rs371401403
|
|
NM_000256.3(MYBPC3):c.2621C>T (p.Thr874Ile)
|
rs759847861
|
|
NM_000256.3(MYBPC3):c.2630C>T (p.Ala877Val)
|
|
|
NM_000256.3(MYBPC3):c.2651C>T (p.Thr884Ile)
|
rs1454927227
|
|
NM_000256.3(MYBPC3):c.2687T>G (p.Val896Gly)
|
rs2095881827
|
|
NM_000256.3(MYBPC3):c.268T>C (p.Phe90Leu)
|
rs2095900572
|
|
NM_000256.3(MYBPC3):c.2693C>T (p.Ala898Val)
|
rs752354801
|
|
NM_000256.3(MYBPC3):c.2702T>C (p.Leu901Pro)
|
rs767113733
|
|
NM_000256.3(MYBPC3):c.2705A>G (p.Asp902Gly)
|
rs959418808
|
|
NM_000256.3(MYBPC3):c.2705A>T (p.Asp902Val)
|
rs959418808
|
|
NM_000256.3(MYBPC3):c.2708G>A (p.Gly903Asp)
|
rs1007623141
|
|
NM_000256.3(MYBPC3):c.2715C>A (p.Ser905Arg)
|
rs759920601
|
|
NM_000256.3(MYBPC3):c.2717T>C (p.Val906Ala)
|
rs2095881764
|
|
NM_000256.3(MYBPC3):c.2737+7G>A
|
rs2095881718
|
|
NM_000256.3(MYBPC3):c.2737+9C>T
|
rs1565624501
|
|
NM_000256.3(MYBPC3):c.2738-7C>A
|
rs1224814897
|
|
NM_000256.3(MYBPC3):c.2794A>G (p.Lys932Glu)
|
rs2142852976
|
|
NM_000256.3(MYBPC3):c.2813C>G (p.Ala938Gly)
|
rs1439755592
|
|
NM_000256.3(MYBPC3):c.2816G>C (p.Arg939Pro)
|
rs946763177
|
|
NM_000256.3(MYBPC3):c.2840A>G (p.His947Arg)
|
|
|
NM_000256.3(MYBPC3):c.2842A>G (p.Asn948Asp)
|
rs1156895803
|
|
NM_000256.3(MYBPC3):c.2843A>C (p.Asn948Thr)
|
rs121909376
|
|
NM_000256.3(MYBPC3):c.2849C>T (p.Ala950Val)
|
rs730880577
|
|
NM_000256.3(MYBPC3):c.286G>C (p.Glu96Gln)
|
rs1011673088
|
|
NM_000256.3(MYBPC3):c.2893C>G (p.Gln965Glu)
|
rs730880578
|
|
NM_000256.3(MYBPC3):c.2896_2898dup (p.Glu966_Ile967insGlu)
|
|
|
NM_000256.3(MYBPC3):c.289G>T (p.Ala97Ser)
|
rs2095900531
|
|
NM_000256.3(MYBPC3):c.292+3A>G
|
rs2142869308
|
|
NM_000256.3(MYBPC3):c.292+6A>C
|
|
|
NM_000256.3(MYBPC3):c.2926C>T (p.Pro976Ser)
|
|
|
NM_000256.3(MYBPC3):c.2938C>G (p.Arg980Gly)
|
rs397515994
|
|
NM_000256.3(MYBPC3):c.2942A>C (p.Gln981Pro)
|
rs730880582
|
|
NM_000256.3(MYBPC3):c.2959G>A (p.Val987Ile)
|
rs1565623672
|
|
NM_000256.3(MYBPC3):c.2963G>T (p.Gly988Val)
|
rs727504942
|
|
NM_000256.3(MYBPC3):c.2965G>A (p.Glu989Lys)
|
rs727503178
|
|
NM_000256.3(MYBPC3):c.2965G>C (p.Glu989Gln)
|
rs727503178
|
|
NM_000256.3(MYBPC3):c.2995-9T>A
|
rs1243985803
|
|
NM_000256.3(MYBPC3):c.3065G>A (p.Arg1022His)
|
rs397516000
|
|
NM_000256.3(MYBPC3):c.3083C>G (p.Thr1028Ser)
|
rs397516002
|
|
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile)
|
rs397516002
|
|
NM_000256.3(MYBPC3):c.308T>G (p.Met103Arg)
|
|
|
NM_000256.3(MYBPC3):c.3095T>C (p.Ile1032Thr)
|
|
|
NM_000256.3(MYBPC3):c.3130C>G (p.Gln1044Glu)
|
rs1565623421
|
|
NM_000256.3(MYBPC3):c.3142C>A (p.Arg1048Ser)
|
rs11570113
|
|
NM_000256.3(MYBPC3):c.3146T>C (p.Ile1049Thr)
|
|
|
NM_000256.3(MYBPC3):c.315CCCTGC[4] (p.106PA[4])
|
rs1216799257
|
|
NM_000256.3(MYBPC3):c.3188T>C (p.Val1063Ala)
|
rs988454775
|
|
NM_000256.3(MYBPC3):c.3190+3_3190+4delinsAT
|
rs2142851313
|
|
NM_000256.3(MYBPC3):c.3191-7C>G
|
rs373012629
|
|
NM_000256.3(MYBPC3):c.3191-8_3191-7del
|
rs2142851109
|
|
NM_000256.3(MYBPC3):c.3192C>G (p.Asp1064Glu)
|
rs2095879164
|
|
NM_000256.3(MYBPC3):c.3196C>T (p.Pro1066Ser)
|
rs2095879157
|
|
NM_000256.3(MYBPC3):c.3202C>T (p.Pro1068Ser)
|
rs2095879147
|
|
NM_000256.3(MYBPC3):c.3212A>T (p.Asp1071Val)
|
rs1445937499
|
|
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser)
|
rs150786409
|
|
NM_000256.3(MYBPC3):c.3224C>T (p.Thr1075Ile)
|
rs150786409
|
|
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr)
|
rs397516009
|
|
NM_000256.3(MYBPC3):c.3236G>A (p.Gly1079Asp)
|
|
|
NM_000256.3(MYBPC3):c.323_324inv (p.Pro108Gln)
|
|
|
NM_000256.3(MYBPC3):c.3274G>A (p.Val1092Ile)
|
rs778853122
|
|
NM_000256.3(MYBPC3):c.3281A>T (p.Asn1094Ile)
|
rs397516012
|
|
NM_000256.3(MYBPC3):c.3294G>C (p.Trp1098Cys)
|
rs767039057
|
|
NM_000256.3(MYBPC3):c.3299A>T (p.Tyr1100Phe)
|
rs769925144
|
|
NM_000256.3(MYBPC3):c.3301A>G (p.Thr1101Ala)
|
rs2095878980
|
|
NM_000256.3(MYBPC3):c.3320AGA[1] (p.Lys1108del)
|
rs767318190
|
|
NM_000256.3(MYBPC3):c.3331-15C>G
|
|
|
NM_000256.3(MYBPC3):c.3331-3C>A
|
rs2142850455
|
|
NM_000256.3(MYBPC3):c.3333G>C (p.Glu1111Asp)
|
rs1026643094
|
|
NM_000256.3(MYBPC3):c.3333G>T (p.Glu1111Asp)
|
|
|
NM_000256.3(MYBPC3):c.3335_3337dup (p.Trp1112dup)
|
rs730880673
|
|
NM_000256.3(MYBPC3):c.3340A>G (p.Thr1114Ala)
|
rs1595841329
|
|
NM_000256.3(MYBPC3):c.3340_3342del (p.Thr1114del)
|
rs763160213
|
|
NM_000256.3(MYBPC3):c.3343G>C (p.Val1115Leu)
|
rs531189495
|
|
NM_000256.3(MYBPC3):c.3355T>C (p.Tyr1119His)
|
rs2095878685
|
|
NM_000256.3(MYBPC3):c.3356A>G (p.Tyr1119Cys)
|
rs1595841315
|
|
NM_000256.3(MYBPC3):c.3364A>T (p.Thr1122Ser)
|
rs996588721
|
|
NM_000256.3(MYBPC3):c.3370T>A (p.Cys1124Ser)
|
rs1360819456
|
|
NM_000256.3(MYBPC3):c.3373G>T (p.Val1125Leu)
|
rs121909378
|
|
NM_000256.3(MYBPC3):c.3376G>C (p.Val1126Leu)
|
rs1193029862
|
|
NM_000256.3(MYBPC3):c.3383A>C (p.Glu1128Ala)
|
rs765817791
|
|
NM_000256.3(MYBPC3):c.338C>A (p.Ala113Asp)
|
rs730880611
|
|
NM_000256.3(MYBPC3):c.3407A>G (p.Tyr1136Cys)
|
rs1278059170
|
|
NM_000256.3(MYBPC3):c.3433G>A (p.Val1145Ile)
|
rs747606711
|
|
NM_000256.3(MYBPC3):c.3445G>A (p.Asp1149Asn)
|
rs2095878564
|
|
NM_000256.3(MYBPC3):c.3446A>T (p.Asp1149Val)
|
rs2095878563
|
|
NM_000256.3(MYBPC3):c.3457A>G (p.Thr1153Ala)
|
rs746297609
|
|
NM_000256.3(MYBPC3):c.3490G>C (p.Gly1164Arg)
|
rs2095878486
|
|
NM_000256.3(MYBPC3):c.3506C>T (p.Pro1169Leu)
|
rs2095878381
|
|
NM_000256.3(MYBPC3):c.3531C>G (p.Phe1177Leu)
|
rs2095878341
|
|
NM_000256.3(MYBPC3):c.3538G>A (p.Ala1180Thr)
|
rs2142849995
|
|
NM_000256.3(MYBPC3):c.3544A>C (p.Ser1182Arg)
|
|
|
NM_000256.3(MYBPC3):c.3547T>C (p.Phe1183Leu)
|
rs786204359
|
|
NM_000256.3(MYBPC3):c.3548T>G (p.Phe1183Cys)
|
rs397516024
|
|
NM_000256.3(MYBPC3):c.3555G>T (p.Gln1185His)
|
rs2095878312
|
|
NM_000256.3(MYBPC3):c.3581C>A (p.Ala1194Glu)
|
rs730880594
|
|
NM_000256.3(MYBPC3):c.3595A>G (p.Met1199Val)
|
rs1218279399
|
|
NM_000256.3(MYBPC3):c.3596T>C (p.Met1199Thr)
|
|
|
NM_000256.3(MYBPC3):c.3622C>T (p.Pro1208Ser)
|
rs2142849872
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
NM_000256.3(MYBPC3):c.3628C>A (p.Pro1210Thr)
|
rs1293774054
|
|
NM_000256.3(MYBPC3):c.362C>A (p.Pro121Gln)
|
rs551888783
|
|
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu)
|
rs551888783
|
|
NM_000256.3(MYBPC3):c.3633G>T (p.Lys1211Asn)
|
rs2095877907
|
|
NM_000256.3(MYBPC3):c.3662T>C (p.Leu1221Pro)
|
rs2095877881
|
|
NM_000256.3(MYBPC3):c.3668A>G (p.Glu1223Gly)
|
rs372821359
|
|
NM_000256.3(MYBPC3):c.3686T>A (p.Met1229Lys)
|
rs2095877823
|
|
NM_000256.3(MYBPC3):c.3686T>C (p.Met1229Thr)
|
|
|
NM_000256.3(MYBPC3):c.3709A>C (p.Thr1237Pro)
|
rs727503168
|
|
NM_000256.3(MYBPC3):c.3716A>G (p.Glu1239Gly)
|
rs1085308024
|
|
NM_000256.3(MYBPC3):c.3719T>A (p.Ile1240Asn)
|
rs1565622348
|
|
NM_000256.3(MYBPC3):c.3731G>A (p.Cys1244Tyr)
|
rs2095877743
|
|
NM_000256.3(MYBPC3):c.3737T>C (p.Phe1246Ser)
|
rs786204361
|
|
NM_000256.3(MYBPC3):c.3744_3758del (p.Gly1249_Cys1253del)
|
rs730880676
|
|
NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp)
|
rs727504722
|
|
NM_000256.3(MYBPC3):c.378G>T (p.Glu126Asp)
|
|
|
NM_000256.3(MYBPC3):c.3790T>C (p.Cys1264Arg)
|
rs2142849221
|
|
NM_000256.3(MYBPC3):c.3794_3796delinsTGC (p.Glu1265_Cys1266delinsValArg)
|
rs2095877635
|
|
NM_000256.3(MYBPC3):c.3799C>G (p.Arg1267Gly)
|
|
|
NM_000256.3(MYBPC3):c.3808G>T (p.Val1270Leu)
|
rs1064796634
|
|
NM_000256.3(MYBPC3):c.3814+1G>A
|
rs1057521823
|
|
NM_000256.3(MYBPC3):c.3815-11_3815-9del
|
rs1329380245
|
|
NM_000256.3(MYBPC3):c.407-7C>A
|
rs1595849981
|
|
NM_000256.3(MYBPC3):c.407-9T>G
|
rs2142868275
|
|
NM_000256.3(MYBPC3):c.422C>T (p.Ala141Val)
|
rs1346020654
|
|
NM_000256.3(MYBPC3):c.437C>A (p.Thr146Asn)
|
rs780458215
|
|
NM_000256.3(MYBPC3):c.445G>T (p.Ala149Ser)
|
rs2095898977
|
|
NM_000256.3(MYBPC3):c.446C>G (p.Ala149Gly)
|
rs779493486
|
|
NM_000256.3(MYBPC3):c.446C>T (p.Ala149Val)
|
rs779493486
|
|
NM_000256.3(MYBPC3):c.449C>T (p.Pro150Leu)
|
rs2095898975
|
|
NM_000256.3(MYBPC3):c.458C>A (p.Pro153His)
|
rs756328813
|
|
NM_000256.3(MYBPC3):c.460A>T (p.Ile154Phe)
|
rs2142868165
|
|
NM_000256.3(MYBPC3):c.470T>A (p.Phe157Tyr)
|
|
|
NM_000256.3(MYBPC3):c.475A>G (p.Met159Val)
|
|
|
NM_000256.3(MYBPC3):c.476T>G (p.Met159Arg)
|
rs1305012073
|
|
NM_000256.3(MYBPC3):c.485A>T (p.Gln162Leu)
|
rs1565631087
|
|
NM_000256.3(MYBPC3):c.505G>C (p.Gly169Arg)
|
rs886039212
|
|
NM_000256.3(MYBPC3):c.506-24G>A
|
rs527895892
|
|
NM_000256.3(MYBPC3):c.529C>G (p.Arg177Gly)
|
rs193922385
|
|
NM_000256.3(MYBPC3):c.532G>A (p.Val178Met)
|
rs727503218
|
|
NM_000256.3(MYBPC3):c.539G>A (p.Gly180Asp)
|
rs867571018
|
|
NM_000256.3(MYBPC3):c.53C>T (p.Ser18Leu)
|
|
|
NM_000256.3(MYBPC3):c.541G>A (p.Ala181Thr)
|
rs773646282
|
|
NM_000256.3(MYBPC3):c.541G>T (p.Ala181Ser)
|
rs773646282
|
|
NM_000256.3(MYBPC3):c.566T>A (p.Val189Asp)
|
rs397516060
|
|
NM_000256.3(MYBPC3):c.568A>G (p.Lys190Glu)
|
rs777665200
|
|
NM_000256.3(MYBPC3):c.580G>T (p.Gly194Cys)
|
rs2095898517
|
|
NM_000256.3(MYBPC3):c.592G>A (p.Asp198Asn)
|
rs2095898499
|
|
NM_000256.3(MYBPC3):c.594C>A (p.Asp198Glu)
|
rs1318614905
|
|
NM_000256.3(MYBPC3):c.62T>C (p.Val21Ala)
|
rs1362750360
|
|
NM_000256.3(MYBPC3):c.642C>A (p.Asp214Glu)
|
rs1294673404
|
|
NM_000256.3(MYBPC3):c.644G>C (p.Arg215Pro)
|
rs775580020
|
|
NM_000256.3(MYBPC3):c.653A>G (p.Lys218Arg)
|
rs730880707
|
|
NM_000256.3(MYBPC3):c.654+2_654+4dup
|
rs730880682
|
|
NM_000256.3(MYBPC3):c.654+5G>A
|
rs397516066
|
|
NM_000256.3(MYBPC3):c.655-7C>A
|
rs2095896909
|
|
NM_000256.3(MYBPC3):c.676A>G (p.Ile226Val)
|
rs1336201335
|
|
NM_000256.3(MYBPC3):c.677T>C (p.Ile226Thr)
|
|
|
NM_000256.3(MYBPC3):c.683A>G (p.Asp228Gly)
|
rs2142866342
|
|
NM_000256.3(MYBPC3):c.709T>C (p.Tyr237His)
|
rs730880624
|
|
NM_000256.3(MYBPC3):c.713G>C (p.Arg238Pro)
|
rs727504396
|
|
NM_000256.3(MYBPC3):c.735C>A (p.Asp245Glu)
|
rs2095896763
|
|
NM_000256.3(MYBPC3):c.754T>C (p.Phe252Leu)
|
rs1565630281
|
|
NM_000256.3(MYBPC3):c.76C>T (p.Pro26Ser)
|
|
|
NM_000256.3(MYBPC3):c.776C>G (p.Ala259Gly)
|
rs187455402
|
|
NM_000256.3(MYBPC3):c.779T>C (p.Met260Thr)
|
rs1173563116
|
|
NM_000256.3(MYBPC3):c.797A>G (p.Asp266Gly)
|
rs1595848603
|
|
NM_000256.3(MYBPC3):c.821+9C>T
|
|
|
NM_000256.3(MYBPC3):c.821C>A (p.Thr274Lys)
|
rs748746951
|
|
NM_000256.3(MYBPC3):c.822-2A>T
|
rs1245855037
|
|
NM_000256.3(MYBPC3):c.841C>A (p.Arg281=)
|
rs371711564
|
|
NM_000256.3(MYBPC3):c.841C>G (p.Arg281Gly)
|
rs371711564
|
|
NM_000256.3(MYBPC3):c.852-10C>G
|
rs750425291
|
|
NM_000256.3(MYBPC3):c.852-13T>G
|
|
|
NM_000256.3(MYBPC3):c.852-1G>T
|
rs368121566
|
|
NM_000256.3(MYBPC3):c.86T>C (p.Phe29Ser)
|
rs2095900955
|
|
NM_000256.3(MYBPC3):c.871G>A (p.Gly291Arg)
|
rs2095895406
|
|
NM_000256.3(MYBPC3):c.887G>A (p.Ser296Asn)
|
rs1595848305
|
|
NM_000256.3(MYBPC3):c.905+7C>G
|
rs2095895367
|
|
NM_000256.3(MYBPC3):c.905G>C (p.Arg302Thr)
|
rs1414396886
|
|
NM_000256.3(MYBPC3):c.906-20CTG[3]
|
rs751038432
|
|
NM_000256.3(MYBPC3):c.906-35G>T
|
|
|
NM_000256.3(MYBPC3):c.909-11C>A
|
rs1198046425
|
|
NM_000256.3(MYBPC3):c.909-6G>A
|
rs962907671
|
|
NM_000256.3(MYBPC3):c.922C>T (p.Pro308Ser)
|
rs1565629496
|
|
NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu)
|
rs193922386
|
|
NM_000256.3(MYBPC3):c.942G>T (p.Glu314Asp)
|
|
|
NM_000256.3(MYBPC3):c.946C>A (p.Pro316Thr)
|
rs2095894126
|
|
NM_000256.3(MYBPC3):c.976C>T (p.Arg326Trp)
|
rs776681371
|
|
NM_000256.3(MYBPC3):c.983C>T (p.Ala328Val)
|
rs2095894054
|
|
NM_000256.3(MYBPC3):c.988C>A (p.Pro330Thr)
|
rs1369307553
|
|
NM_000257.4(MYH7):c.-7C>A
|
rs876657890
|
|
NM_000257.4(MYH7):c.-8G>T
|
|
|
NM_000257.4(MYH7):c.1000-11C>A
|
|
|
NM_000257.4(MYH7):c.1000A>G (p.Asn334Asp)
|
rs1275864764
|
|
NM_000257.4(MYH7):c.1003G>T (p.Ala335Ser)
|
rs727503272
|
|
NM_000257.4(MYH7):c.1071G>A (p.Met357Ile)
|
|
|
NM_000257.4(MYH7):c.1075T>G (p.Phe359Val)
|
rs2138677363
|
|
NM_000257.4(MYH7):c.1085T>C (p.Met362Thr)
|
rs1210839181
|
|
NM_000257.4(MYH7):c.1129G>A (p.Gly377Ser)
|
rs773599095
|
|
NM_000257.4(MYH7):c.1132A>C (p.Thr378Pro)
|
rs397516090
|
|
NM_000257.4(MYH7):c.1180G>A (p.Asp394Asn)
|
rs397516093
|
|
NM_000257.4(MYH7):c.1203C>A (p.His401Gln)
|
rs1892824991
|
|
NM_000257.4(MYH7):c.1235C>A (p.Thr412Asn)
|
|
|
NM_000257.4(MYH7):c.1258-3_1258-2delinsAT
|
rs1555338344
|
|
NM_000257.4(MYH7):c.1276G>A (p.Ala426Thr)
|
|
|
NM_000257.4(MYH7):c.129del (p.Lys43fs)
|
rs1364012197
|
|
NM_000257.4(MYH7):c.1302G>T (p.Arg434Ser)
|
|
|
NM_000257.4(MYH7):c.1361dup (p.Tyr455fs)
|
|
|
NM_000257.4(MYH7):c.136T>A (p.Phe46Ile)
|
rs1893036458
|
|
NM_000257.4(MYH7):c.1370T>G (p.Ile457Arg)
|
rs397516103
|
|
NM_000257.4(MYH7):c.137T>G (p.Phe46Cys)
|
rs397516104
|
|
NM_000257.4(MYH7):c.1395C>G (p.Phe465Leu)
|
rs45508293
|
|
NM_000257.4(MYH7):c.1405G>T (p.Asp469Tyr)
|
rs397516106
|
|
NM_000257.4(MYH7):c.1408-6del
|
rs1892796424
|
|
NM_000257.4(MYH7):c.1413C>G (p.Asn471Lys)
|
|
|
NM_000257.4(MYH7):c.1463_1464insGGTGCAGTGG (p.Phe488fs)
|
rs1892794319
|
|
NM_000257.4(MYH7):c.1477_1478del (p.Met493fs)
|
rs727504336
|
|
NM_000257.4(MYH7):c.1514G>T (p.Gly505Val)
|
rs397516109
|
|
NM_000257.4(MYH7):c.1534G>A (p.Asp512Asn)
|
rs1566534648
|
|
NM_000257.4(MYH7):c.1559G>A (p.Cys520Tyr)
|
rs1892789510
|
|
NM_000257.4(MYH7):c.1578+1G>A
|
rs1892788026
|
|
NM_000257.4(MYH7):c.1578+1G>T
|
rs1892788026
|
|
NM_000257.4(MYH7):c.1579C>T (p.Pro527Ser)
|
rs1437377039
|
|
NM_000257.4(MYH7):c.1588A>G (p.Ile530Val)
|
rs771831848
|
|
NM_000257.4(MYH7):c.158C>A (p.Ser53Tyr)
|
rs1893034734
|
|
NM_000257.4(MYH7):c.1592T>C (p.Met531Thr)
|
rs1892758684
|
|
NM_000257.4(MYH7):c.161G>T (p.Arg54Leu)
|
rs397516117
|
|
NM_000257.4(MYH7):c.1647G>T (p.Lys549Asn)
|
rs2138672472
|
|
NM_000257.4(MYH7):c.1649C>A (p.Ala550Asp)
|
rs1188606962
|
|
NM_000257.4(MYH7):c.1651A>C (p.Lys551Gln)
|
rs1566534156
|
|
NM_000257.4(MYH7):c.1654C>G (p.Leu552Val)
|
rs1892755053
|
|
NM_000257.4(MYH7):c.166G>T (p.Gly56Cys)
|
rs759500431
|
|
NM_000257.4(MYH7):c.1684A>C (p.Asn562His)
|
rs397516118
|
|
NM_000257.4(MYH7):c.1703A>G (p.Asn568Ser)
|
rs1892752744
|
|
NM_000257.4(MYH7):c.1704T>A (p.Asn568Lys)
|
|
|
NM_000257.4(MYH7):c.1720G>C (p.Glu574Gln)
|
rs1892752183
|
|
NM_000257.4(MYH7):c.1763ACA[1] (p.Asn589del)
|
|
|
NM_000257.4(MYH7):c.1764C>A (p.Tyr588Ter)
|
|
|
NM_000257.4(MYH7):c.1788G>C (p.Lys596Asn)
|
rs606231325
|
|
NM_000257.4(MYH7):c.1834T>G (p.Ser612Ala)
|
|
|
NM_000257.4(MYH7):c.1844A>G (p.Lys615Arg)
|
rs1892745662
|
|
NM_000257.4(MYH7):c.184G>C (p.Glu62Gln)
|
rs727504416
|
|
NM_000257.4(MYH7):c.1864G>T (p.Ala622Ser)
|
rs150153771
|
|
NM_000257.4(MYH7):c.1871A>G (p.Tyr624Cys)
|
rs727504291
|
|
NM_000257.4(MYH7):c.1879G>A (p.Ala627Thr)
|
rs1174863002
|
|
NM_000257.4(MYH7):c.1888+1G>A
|
rs113186231
|
|
NM_000257.4(MYH7):c.1888+3A>T
|
|
|
NM_000257.4(MYH7):c.1909A>G (p.Lys637Glu)
|
rs2138671179
|
|
NM_000257.4(MYH7):c.190G>A (p.Glu64Lys)
|
|
|
NM_000257.4(MYH7):c.1911G>T (p.Lys637Asn)
|
rs1892730403
|
|
NM_000257.4(MYH7):c.1951C>T (p.His651Tyr)
|
rs1892728751
|
|
NM_000257.4(MYH7):c.1952A>G (p.His651Arg)
|
rs606231328
|
|
NM_000257.4(MYH7):c.1956+1G>A
|
rs1555338074
|
|
NM_000257.4(MYH7):c.1970A>T (p.Lys657Met)
|
rs1064793204
|
|
NM_000257.4(MYH7):c.2006T>G (p.Phe669Cys)
|
rs1892712215
|
|
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys)
|
rs727503263
|
|
NM_000257.4(MYH7):c.202-3C>T
|
rs112935906
|
|
NM_000257.4(MYH7):c.2021_2022del (p.Ile674fs)
|
|
|
NM_000257.4(MYH7):c.202A>G (p.Thr68Ala)
|
|
|
NM_000257.4(MYH7):c.2041C>T (p.Pro681Ser)
|
rs1566533236
|
|
NM_000257.4(MYH7):c.2044+5G>C
|
rs1892710272
|
|
NM_000257.4(MYH7):c.2045-5C>A
|
|
|
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile)
|
rs727503262
|
|
NM_000257.4(MYH7):c.2053del (p.Asp685fs)
|
rs1566532860
|
|
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr)
|
rs397516128
|
|
NM_000257.4(MYH7):c.212T>C (p.Val71Ala)
|
rs1376905623
|
|
NM_000257.4(MYH7):c.2140C>A (p.Leu714Ile)
|
rs1892682030
|
|
NM_000257.4(MYH7):c.2163-1G>C
|
rs606231334
|
|
NM_000257.4(MYH7):c.2163-8del
|
rs1892675036
|
|
NM_000257.4(MYH7):c.2196G>C (p.Glu732Asp)
|
rs1465544124
|
|
NM_000257.4(MYH7):c.2213G>A (p.Ser738Asn)
|
rs730880894
|
|
NM_000257.4(MYH7):c.2220G>T (p.Lys740Asn)
|
|
|
NM_000257.4(MYH7):c.2224G>A (p.Ala742Thr)
|
rs769396106
|
|
NM_000257.4(MYH7):c.2228A>G (p.Glu743Gly)
|
rs1892669315
|
|
NM_000257.4(MYH7):c.2242T>C (p.Ser748Pro)
|
rs876657879
|
|
NM_000257.4(MYH7):c.2248G>C (p.Asp750His)
|
rs1208712277
|
|
NM_000257.4(MYH7):c.2251A>G (p.Ile751Val)
|
rs1892668023
|
|
NM_000257.4(MYH7):c.2251A>T (p.Ile751Phe)
|
rs1892668023
|
|
NM_000257.4(MYH7):c.225G>A (p.Gln75=)
|
rs1595091114
|
|
NM_000257.4(MYH7):c.2267A>T (p.Tyr756Phe)
|
|
|
NM_000257.4(MYH7):c.2286+10G>A
|
rs1892665943
|
|
NM_000257.4(MYH7):c.2286+1G>T
|
rs1064796489
|
|
NM_000257.4(MYH7):c.2287G>A (p.Val763Met)
|
rs727504253
|
|
NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys)
|
rs727503258
|
|
NM_000257.4(MYH7):c.2348G>T (p.Arg783Leu)
|
rs397516142
|
|
NM_000257.4(MYH7):c.2356A>G (p.Thr786Ala)
|
rs1892652051
|
|
NM_000257.4(MYH7):c.2357C>A (p.Thr786Lys)
|
|
|
NM_000257.4(MYH7):c.2374T>C (p.Ser792Pro)
|
rs2138667036
|
|
NM_000257.4(MYH7):c.2377C>T (p.Arg793Ter)
|
rs140175704
|
|
NM_000257.4(MYH7):c.2382T>C (p.Gly794=)
|
rs1566531920
|
|
NM_000257.4(MYH7):c.2386C>T (p.Leu796Phe)
|
rs1222361739
|
|
NM_000257.4(MYH7):c.2400G>T (p.Glu800Asp)
|
rs730880737
|
|
NM_000257.4(MYH7):c.2423+1G>A
|
rs113580172
|
|
NM_000257.4(MYH7):c.2424-1G>T
|
rs1892639476
|
|
NM_000257.4(MYH7):c.2424-5T>G
|
rs397516146
|
|
NM_000257.4(MYH7):c.2424-6del
|
rs748311799
|
|
NM_000257.4(MYH7):c.2424-8C>A
|
rs767171610
|
|
NM_000257.4(MYH7):c.2455C>T (p.Arg819Trp)
|
rs1064793206
|
|
NM_000257.4(MYH7):c.2462T>C (p.Phe821Ser)
|
rs397516148
|
|
NM_000257.4(MYH7):c.2470G>A (p.Val824Ile)
|
rs397516149
|
|
NM_000257.4(MYH7):c.2479T>C (p.Trp827Arg)
|
rs730880744
|
|
NM_000257.4(MYH7):c.2504A>G (p.Lys835Arg)
|
rs876657880
|
|
NM_000257.4(MYH7):c.2525G>C (p.Ser842Thr)
|
rs397516154
|
|
NM_000257.4(MYH7):c.2548G>A (p.Ala850Thr)
|
rs1060499880
|
|
NM_000257.4(MYH7):c.2554A>T (p.Met852Leu)
|
rs1595082558
|
|
NM_000257.4(MYH7):c.2562G>T (p.Glu854Asp)
|
rs778148245
|
|
NM_000257.4(MYH7):c.2579A>G (p.Lys860Arg)
|
rs1892630499
|
|
NM_000257.4(MYH7):c.2582A>G (p.Glu861Gly)
|
rs1236517740
|
|
NM_000257.4(MYH7):c.2585C>G (p.Ala862Gly)
|
rs149576470
|
|
NM_000257.4(MYH7):c.2587C>A (p.Leu863Ile)
|
rs1595082485
|
|
NM_000257.4(MYH7):c.2594A>T (p.Lys865Met)
|
rs758891557
|
|
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.2632G>T (p.Val878Leu)
|
rs730880751
|
|
NM_000257.4(MYH7):c.2653A>T (p.Asn885Tyr)
|
rs1892625736
|
|
NM_000257.4(MYH7):c.2662C>T (p.Gln888Ter)
|
rs2138665370
|
|
NM_000257.4(MYH7):c.2677G>T (p.Ala893Ser)
|
rs750204313
|
|
NM_000257.4(MYH7):c.2680G>A (p.Glu894Lys)
|
rs2138664054
|
|
NM_000257.4(MYH7):c.2684A>G (p.Gln895Arg)
|
rs1892600025
|
|
NM_000257.4(MYH7):c.2709G>T (p.Glu903Asp)
|
rs773468693
|
|
NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser)
|
rs730880757
|
|
NM_000257.4(MYH7):c.2714G>T (p.Cys905Phe)
|
rs730880757
|
|
NM_000257.4(MYH7):c.271_276del (p.Ala91_Met92del)
|
rs1893017067
|
|
NM_000257.4(MYH7):c.2731A>T (p.Asn911Tyr)
|
rs1566530777
|
|
NM_000257.4(MYH7):c.2737A>G (p.Ile913Val)
|
rs1892595728
|
|
NM_000257.4(MYH7):c.2742G>T (p.Gln914His)
|
rs727504404
|
|
NM_000257.4(MYH7):c.275T>C (p.Met92Thr)
|
rs2138685614
|
|
NM_000257.4(MYH7):c.2762A>C (p.Glu921Ala)
|
rs779467831
|
|
NM_000257.4(MYH7):c.2766G>C (p.Met922Ile)
|
|
|
NM_000257.4(MYH7):c.2786dup (p.Glu930fs)
|
rs2138663618
|
|
NM_000257.4(MYH7):c.2795T>C (p.Met932Thr)
|
rs202097576
|
|
NM_000257.4(MYH7):c.2812G>T (p.Ala938Ser)
|
rs763082533
|
|
NM_000257.4(MYH7):c.2819A>T (p.Lys940Met)
|
rs1892589863
|
|
NM_000257.4(MYH7):c.2821C>A (p.Arg941Ser)
|
rs750435648
|
|
NM_000257.4(MYH7):c.2821C>T (p.Arg941Cys)
|
rs750435648
|
|
NM_000257.4(MYH7):c.2841C>A (p.Cys947Ter)
|
rs1892589158
|
|
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)
|
rs121913629
|
|
NM_000257.4(MYH7):c.2872G>A (p.Glu958Lys)
|
rs2138663362
|
|
NM_000257.4(MYH7):c.2894A>T (p.Glu965Val)
|
rs1473734002
|
|
NM_000257.4(MYH7):c.28G>A (p.Gly10Arg)
|
rs199577321
|
|
NM_000257.4(MYH7):c.2908G>T (p.Ala970Ser)
|
rs1446657813
|
|
NM_000257.4(MYH7):c.2922+1G>A
|
|
|
NM_000257.4(MYH7):c.2923-4G>C
|
rs1391789257
|
|
NM_000257.4(MYH7):c.2923-6C>A
|
rs587781082
|
|
NM_000257.4(MYH7):c.2981A>C (p.Lys994Thr)
|
rs1298804415
|
|
NM_000257.4(MYH7):c.2987A>G (p.Lys996Arg)
|
|
|
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr)
|
rs730880154
|
|
NM_000257.4(MYH7):c.3016G>A (p.Ala1006Thr)
|
rs1892572179
|
|
NM_000257.4(MYH7):c.3019C>G (p.Leu1007Val)
|
rs1308445601
|
|
NM_000257.4(MYH7):c.3037G>C (p.Glu1013Gln)
|
rs730880764
|
|
NM_000257.4(MYH7):c.3065A>T (p.Lys1022Met)
|
|
|
NM_000257.4(MYH7):c.3067G>A (p.Ala1023Thr)
|
rs1595081240
|
|
NM_000257.4(MYH7):c.3068C>T (p.Ala1023Val)
|
rs767004235
|
|
NM_000257.4(MYH7):c.3099T>A (p.Asp1033Glu)
|
rs761574227
|
|
NM_000257.4(MYH7):c.3110C>G (p.Ser1037Cys)
|
rs1159928168
|
|
NM_000257.4(MYH7):c.3128A>G (p.Lys1043Arg)
|
rs1892505925
|
|
NM_000257.4(MYH7):c.3130G>A (p.Val1044Met)
|
|
|
NM_000257.4(MYH7):c.3130G>T (p.Val1044Leu)
|
rs2138659105
|
|
NM_000257.4(MYH7):c.3136A>G (p.Met1046Val)
|
rs1566529310
|
|
NM_000257.4(MYH7):c.3137T>C (p.Met1046Thr)
|
rs763760498
|
|
NM_000257.4(MYH7):c.3139G>C (p.Asp1047His)
|
|
|
NM_000257.4(MYH7):c.3149G>A (p.Arg1050Gln)
|
rs759579652
|
|
NM_000257.4(MYH7):c.3151G>A (p.Ala1051Thr)
|
|
|
NM_000257.4(MYH7):c.3154A>G (p.Lys1052Glu)
|
rs1566529274
|
|
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp)
|
rs730880903
|
|
NM_000257.4(MYH7):c.323G>A (p.Arg108His)
|
rs730880832
|
|
NM_000257.4(MYH7):c.3246-6C>G
|
|
|
NM_000257.4(MYH7):c.328G>T (p.Gly110Cys)
|
|
|
NM_000257.4(MYH7):c.3294G>C (p.Gln1098His)
|
rs375323916
|
|
NM_000257.4(MYH7):c.3294G>T (p.Gln1098His)
|
rs375323916
|
|
NM_000257.4(MYH7):c.3318G>T (p.Lys1106Asn)
|
|
|
NM_000257.4(MYH7):c.3323T>C (p.Leu1108Pro)
|
|
|
NM_000257.4(MYH7):c.3331C>T (p.Leu1111Phe)
|
rs1346156456
|
|
NM_000257.4(MYH7):c.3337-2_3337delinsCAGA
|
rs1892420744
|
|
NM_000257.4(MYH7):c.3337-5_3337-4insT
|
rs779144252
|
|
NM_000257.4(MYH7):c.3337-64A>C
|
rs1892426856
|
|
NM_000257.4(MYH7):c.3340C>A (p.Arg1114Ser)
|
rs1204830698
|
|
NM_000257.4(MYH7):c.3340C>T (p.Arg1114Cys)
|
rs1204830698
|
|
NM_000257.4(MYH7):c.3349G>A (p.Glu1117Lys)
|
rs141735183
|
|
NM_000257.4(MYH7):c.3358G>A (p.Glu1120Lys)
|
rs863225098
|
|
NM_000257.4(MYH7):c.3373G>A (p.Glu1125Lys)
|
rs730880904
|
|
NM_000257.4(MYH7):c.3373G>C (p.Glu1125Gln)
|
rs730880904
|
|
NM_000257.4(MYH7):c.3377G>A (p.Arg1126His)
|
|
|
NM_000257.4(MYH7):c.337A>G (p.Met113Val)
|
rs1893014420
|
|
NM_000257.4(MYH7):c.338T>A (p.Met113Lys)
|
rs1595091003
|
|
NM_000257.4(MYH7):c.341T>C (p.Ile114Thr)
|
rs730880833
|
|
NM_000257.4(MYH7):c.3421C>T (p.Arg1141Trp)
|
|
|
NM_000257.4(MYH7):c.3422G>A (p.Arg1141Gln)
|
rs1407919500
|
|
NM_000257.4(MYH7):c.3441C>G (p.Ser1147Arg)
|
rs1892414802
|
|
NM_000257.4(MYH7):c.345+1G>A
|
rs112907315
|
|
NM_000257.4(MYH7):c.346-15_346-10del
|
rs1893003165
|
|
NM_000257.4(MYH7):c.346-4C>G
|
rs1470520864
|
|
NM_000257.4(MYH7):c.3460G>A (p.Gly1154Ser)
|
rs1211784451
|
|
NM_000257.4(MYH7):c.3484G>T (p.Glu1162Ter)
|
|
|
NM_000257.4(MYH7):c.3502G>A (p.Glu1168Lys)
|
rs1566527832
|
|
NM_000257.4(MYH7):c.3508G>A (p.Glu1170Lys)
|
rs750627218
|
|
NM_000257.4(MYH7):c.3517A>G (p.Lys1173Glu)
|
|
|
NM_000257.4(MYH7):c.3524G>A (p.Arg1175Gln)
|
|
|
NM_000257.4(MYH7):c.3536A>T (p.Glu1179Val)
|
|
|
NM_000257.4(MYH7):c.3539A>C (p.Glu1180Ala)
|
|
|
NM_000257.4(MYH7):c.3542C>A (p.Ala1181Asp)
|
|
|
NM_000257.4(MYH7):c.3549_3550insT (p.Gln1184fs)
|
|
|
NM_000257.4(MYH7):c.3551A>G (p.Gln1184Arg)
|
rs546586969
|
|
NM_000257.4(MYH7):c.3554A>G (p.His1185Arg)
|
|
|
NM_000257.4(MYH7):c.3554_3555insTGCTTCTTG (p.His1185_Glu1186insAlaSerCys)
|
|
|
NM_000257.4(MYH7):c.3556_3557insC (p.Glu1186fs)
|
|
|
NM_000257.4(MYH7):c.3560C>T (p.Ala1187Val)
|
|
|
NM_000257.4(MYH7):c.3560_3564del (p.Ala1187fs)
|
|
|
NM_000257.4(MYH7):c.3563C>T (p.Thr1188Ile)
|
rs1566527771
|
|
NM_000257.4(MYH7):c.3568G>A (p.Ala1190Thr)
|
|
|
NM_000257.4(MYH7):c.3569C>T (p.Ala1190Val)
|
|
|
NM_000257.4(MYH7):c.3572_3573insAGTGG (p.Leu1192fs)
|
|
|
NM_000257.4(MYH7):c.3576del (p.Arg1193fs)
|
|
|
NM_000257.4(MYH7):c.3577C>T (p.Arg1193Cys)
|
rs886039090
|
|
NM_000257.4(MYH7):c.3592G>A (p.Asp1198Asn)
|
rs730880778
|
|
NM_000257.4(MYH7):c.3593del (p.Asp1198fs)
|
|
|
NM_000257.4(MYH7):c.3601dup (p.Ala1201fs)
|
|
|
NM_000257.4(MYH7):c.3604G>A (p.Glu1202Lys)
|
rs748011341
|
|
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys)
|
rs727505026
|
|
NM_000257.4(MYH7):c.3644A>G (p.Gln1215Arg)
|
|
|
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys)
|
rs794727410
|
|
NM_000257.4(MYH7):c.3691G>A (p.Val1231Ile)
|
|
|
NM_000257.4(MYH7):c.3695C>T (p.Thr1232Ile)
|
|
|
NM_000257.4(MYH7):c.3712A>T (p.Ile1238Phe)
|
rs2138653375
|
|
NM_000257.4(MYH7):c.3721G>T (p.Ala1241Ser)
|
rs757538583
|
|
NM_000257.4(MYH7):c.3727-5C>A
|
rs1160062159
|
|
NM_000257.4(MYH7):c.3740del (p.Lys1247fs)
|
rs1384488225
|
|
NM_000257.4(MYH7):c.3745_3746del (p.Cys1249fs)
|
|
|
NM_000257.4(MYH7):c.3748C>G (p.Arg1250Gly)
|
rs727503249
|
|
NM_000257.4(MYH7):c.3749G>C (p.Arg1250Pro)
|
rs540263945
|
|
NM_000257.4(MYH7):c.3752C>T (p.Thr1251Ile)
|
rs1892382659
|
|
NM_000257.4(MYH7):c.3767T>C (p.Met1256Thr)
|
rs1892381836
|
|
NM_000257.4(MYH7):c.3783C>G (p.Ser1261Arg)
|
rs1566527289
|
|
NM_000257.4(MYH7):c.3788C>A (p.Ala1263Glu)
|
rs758889483
|
|
NM_000257.4(MYH7):c.3802C>T (p.Arg1268Cys)
|
rs1892379072
|
|
NM_000257.4(MYH7):c.3829C>T (p.Arg1277Trp)
|
rs727503248
|
|
NM_000257.4(MYH7):c.3833C>A (p.Ala1278Asp)
|
rs1892376484
|
|
NM_000257.4(MYH7):c.3854-1G>T
|
rs1892364786
|
|
NM_000257.4(MYH7):c.3882G>T (p.Lys1294Asn)
|
rs1892363435
|
|
NM_000257.4(MYH7):c.3890T>A (p.Leu1297Gln)
|
rs1566527011
|
|
NM_000257.4(MYH7):c.3895T>G (p.Ser1299Ala)
|
|
|
NM_000257.4(MYH7):c.3908G>A (p.Arg1303Gln)
|
rs727505325
|
|
NM_000257.4(MYH7):c.3910G>A (p.Gly1304Ser)
|
|
|
NM_000257.4(MYH7):c.3934C>G (p.Leu1312Val)
|
rs886050419
|
|
NM_000257.4(MYH7):c.3942C>A (p.Asp1314Glu)
|
rs921429381
|
|
NM_000257.4(MYH7):c.3973-12delinsCCC
|
|
|
NM_000257.4(MYH7):c.3973-8dup
|
rs762851416
|
|
NM_000257.4(MYH7):c.4002del (p.Gln1334fs)
|
|
|
NM_000257.4(MYH7):c.4025T>G (p.Leu1342Arg)
|
|
|
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp)
|
rs727504352
|
|
NM_000257.4(MYH7):c.4045G>A (p.Glu1349Lys)
|
rs1566526272
|
|
NM_000257.4(MYH7):c.4063G>A (p.Ala1355Thr)
|
rs755058300
|
|
NM_000257.4(MYH7):c.4064C>A (p.Ala1355Asp)
|
rs1892313725
|
|
NM_000257.4(MYH7):c.4079T>A (p.Val1360Asp)
|
rs730880789
|
|
NM_000257.4(MYH7):c.4081C>A (p.Leu1361Ile)
|
rs2138648744
|
|
NM_000257.4(MYH7):c.4084T>C (p.Ser1362Pro)
|
rs112771600
|
|
NM_000257.4(MYH7):c.4090G>A (p.Ala1364Thr)
|
|
|
NM_000257.4(MYH7):c.4099G>A (p.Glu1367Lys)
|
rs1555336835
|
|
NM_000257.4(MYH7):c.4102G>T (p.Val1368Leu)
|
rs771892152
|
|
NM_000257.4(MYH7):c.4106C>G (p.Ala1369Gly)
|
rs1595076182
|
|
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys)
|
rs727503245
|
|
NM_000257.4(MYH7):c.4136C>A (p.Ala1379Asp)
|
rs397516203
|
|
NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe)
|
rs727504703
|
|
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys)
|
rs730880792
|
|
NM_000257.4(MYH7):c.4169A>G (p.Lys1390Arg)
|
rs1892306997
|
|
NM_000257.4(MYH7):c.4181C>T (p.Ala1394Val)
|
rs2138646993
|
|
NM_000257.4(MYH7):c.4187G>A (p.Arg1396Gln)
|
rs370069461
|
|
NM_000257.4(MYH7):c.4187G>T (p.Arg1396Leu)
|
rs370069461
|
|
NM_000257.4(MYH7):c.418del (p.Ala140fs)
|
rs2138684658
|
|
NM_000257.4(MYH7):c.41C>A (p.Pro14His)
|
rs766301164
|
|
NM_000257.4(MYH7):c.4201G>A (p.Glu1401Lys)
|
rs2138646903
|
|
NM_000257.4(MYH7):c.4203G>T (p.Glu1401Asp)
|
rs774351170
|
|
NM_000257.4(MYH7):c.4207G>T (p.Ala1403Ser)
|
rs2138646882
|
|
NM_000257.4(MYH7):c.4246A>G (p.Lys1416Glu)
|
rs753682085
|
|
NM_000257.4(MYH7):c.4250C>T (p.Thr1417Ile)
|
rs1057524383
|
|
NM_000257.4(MYH7):c.4259G>C (p.Arg1420Pro)
|
rs397516207
|
|
NM_000257.4(MYH7):c.427del (p.Arg143fs)
|
rs1892999203
|
|
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys)
|
rs730880800
|
|
NM_000257.4(MYH7):c.431G>A (p.Gly144Asp)
|
rs730880834
|
|
NM_000257.4(MYH7):c.4347C>G (p.Phe1449Leu)
|
rs182311329
|
|
NM_000257.4(MYH7):c.4360G>A (p.Ala1454Thr)
|
rs1358268382
|
|
NM_000257.4(MYH7):c.4384G>A (p.Glu1462Lys)
|
rs1892258263
|
|
NM_000257.4(MYH7):c.4396G>T (p.Glu1466Ter)
|
|
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
|
NM_000257.4(MYH7):c.4411C>T (p.Gln1471Ter)
|
rs397516216
|
|
NM_000257.4(MYH7):c.4427C>T (p.Ser1476Phe)
|
rs1566525169
|
|
NM_000257.4(MYH7):c.4436C>T (p.Thr1479Ile)
|
rs397516217
|
|
NM_000257.4(MYH7):c.4454A>G (p.Lys1485Arg)
|
rs1566525134
|
|
NM_000257.4(MYH7):c.4458C>A (p.Asn1486Lys)
|
rs571704020
|
|
NM_000257.4(MYH7):c.4463A>G (p.Tyr1488Cys)
|
rs948329167
|
|
NM_000257.4(MYH7):c.4483C>G (p.Leu1495Val)
|
rs1892252122
|
|
NM_000257.4(MYH7):c.4511A>C (p.Asn1504Thr)
|
rs1892250074
|
|
NM_000257.4(MYH7):c.4524G>C (p.Glu1508Asp)
|
rs1033543834
|
|
NM_000257.4(MYH7):c.4527C>G (p.Ile1509Met)
|
rs781223723
|
|
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu)
|
rs730880837
|
|
NM_000257.4(MYH7):c.4537A>T (p.Thr1513Ser)
|
rs397516222
|
|
NM_000257.4(MYH7):c.4541A>G (p.Glu1514Gly)
|
rs1351712658
|
|
NM_000257.4(MYH7):c.4565C>T (p.Thr1522Ile)
|
rs2138644446
|
|
NM_000257.4(MYH7):c.4568T>C (p.Ile1523Thr)
|
rs1892237828
|
|
NM_000257.4(MYH7):c.457del (p.His153fs)
|
rs397516224
|
|
NM_000257.4(MYH7):c.4584_4585delinsAT (p.Val1529Phe)
|
rs1892237017
|
|
NM_000257.4(MYH7):c.4628C>T (p.Ala1543Val)
|
rs1892235051
|
|
NM_000257.4(MYH7):c.4643A>T (p.Glu1548Val)
|
rs730880804
|
|
NM_000257.4(MYH7):c.4645-7T>C
|
rs796681603
|
|
NM_000257.4(MYH7):c.4660G>A (p.Glu1554Lys)
|
rs142694139
|
|
NM_000257.4(MYH7):c.4678C>T (p.Arg1560Trp)
|
rs368722536
|
|
NM_000257.4(MYH7):c.4681G>T (p.Ala1561Ser)
|
|
|
NM_000257.4(MYH7):c.4682C>T (p.Ala1561Val)
|
rs1566524159
|
|
NM_000257.4(MYH7):c.4701G>C (p.Gln1567His)
|
|
|
NM_000257.4(MYH7):c.4702A>G (p.Ile1568Val)
|
rs1892204171
|
|
NM_000257.4(MYH7):c.4708G>A (p.Ala1570Thr)
|
|
|
NM_000257.4(MYH7):c.4746G>C (p.Glu1582Asp)
|
rs1892202130
|
|
NM_000257.4(MYH7):c.4749G>T (p.Met1583Ile)
|
rs1892201771
|
|
NM_000257.4(MYH7):c.4751A>G (p.Glu1584Gly)
|
rs765004831
|
|
NM_000257.4(MYH7):c.4756G>A (p.Ala1586Thr)
|
rs1595073523
|
|
NM_000257.4(MYH7):c.4757C>G (p.Ala1586Gly)
|
rs1892201286
|
|
NM_000257.4(MYH7):c.4774C>T (p.Arg1592Trp)
|
rs1468958169
|
|
NM_000257.4(MYH7):c.4819A>G (p.Ser1607Gly)
|
rs1892196940
|
|
NM_000257.4(MYH7):c.4823G>T (p.Arg1608Leu)
|
rs587779391
|
|
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln)
|
rs730880810
|
|
NM_000257.4(MYH7):c.4879A>C (p.Ile1627Leu)
|
|
|
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His)
|
rs545875689
|
|
NM_000257.4(MYH7):c.4907C>T (p.Ala1636Val)
|
rs1555336406
|
|
NM_000257.4(MYH7):c.490T>C (p.Tyr164His)
|
rs2138684414
|
|
NM_000257.4(MYH7):c.4912G>A (p.Glu1638Lys)
|
rs1238699518
|
|
NM_000257.4(MYH7):c.4915G>A (p.Ala1639Thr)
|
rs864309553
|
|
NM_000257.4(MYH7):c.4919A>C (p.Gln1640Pro)
|
rs756827282
|
|
NM_000257.4(MYH7):c.4935C>A (p.Ser1645Arg)
|
rs1595073192
|
|
NM_000257.4(MYH7):c.4953+4C>T
|
rs933520031
|
|
NM_000257.4(MYH7):c.4953G>A (p.Lys1651=)
|
rs1892187995
|
|
NM_000257.4(MYH7):c.4953G>T (p.Lys1651Asn)
|
rs1892187995
|
|
NM_000257.4(MYH7):c.4954-5C>G
|
|
|
NM_000257.4(MYH7):c.4964T>C (p.Ile1655Thr)
|
rs1892177990
|
|
NM_000257.4(MYH7):c.4981G>A (p.Val1661Ile)
|
rs1358266100
|
|
NM_000257.4(MYH7):c.4985G>A (p.Arg1662His)
|
rs370328209
|
|
NM_000257.4(MYH7):c.4985G>T (p.Arg1662Leu)
|
rs370328209
|
|
NM_000257.4(MYH7):c.4988C>A (p.Ala1663Asp)
|
rs1892175888
|
|
NM_000257.4(MYH7):c.4991A>G (p.Asn1664Ser)
|
rs1398693075
|
|
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys)
|
rs763538103
|
|
NM_000257.4(MYH7):c.5005G>T (p.Glu1669Ter)
|
rs45620235
|
|
NM_000257.4(MYH7):c.5017A>T (p.Ile1673Phe)
|
rs753907340
|
|
NM_000257.4(MYH7):c.5020G>T (p.Val1674Leu)
|
rs397516235
|
|
NM_000257.4(MYH7):c.5046G>T (p.Gln1682His)
|
rs2138640487
|
|
NM_000257.4(MYH7):c.5074G>T (p.Val1692Leu)
|
rs748373063
|
|
NM_000257.4(MYH7):c.5075_5076delinsAA (p.Val1692Glu)
|
rs1892169334
|
|
NM_000257.4(MYH7):c.5089C>G (p.Arg1697Gly)
|
rs1282833804
|
|
NM_000257.4(MYH7):c.5105C>G (p.Ala1702Gly)
|
rs750013359
|
|
NM_000257.4(MYH7):c.5105C>T (p.Ala1702Val)
|
rs750013359
|
|
NM_000257.4(MYH7):c.5119A>T (p.Ile1707Phe)
|
rs763791649
|
|
NM_000257.4(MYH7):c.5137G>A (p.Val1713Met)
|
rs1892164860
|
|
NM_000257.4(MYH7):c.5149C>T (p.His1717Tyr)
|
rs1892164451
|
|
NM_000257.4(MYH7):c.5158-12C>A
|
rs1020453843
|
|
NM_000257.4(MYH7):c.5158A>G (p.Asn1720Asp)
|
rs1566523039
|
|
NM_000257.4(MYH7):c.5181G>A (p.Lys1727=)
|
rs1566523007
|
|
NM_000257.4(MYH7):c.5183A>G (p.Lys1728Arg)
|
rs1357222680
|
|
NM_000257.4(MYH7):c.5189T>C (p.Met1730Thr)
|
rs867004523
|
|
NM_000257.4(MYH7):c.5190G>C (p.Met1730Ile)
|
rs1566522989
|
|
NM_000257.4(MYH7):c.5221del (p.Val1741fs)
|
rs1440353909
|
|
NM_000257.4(MYH7):c.5270A>G (p.Lys1757Arg)
|
rs2138639265
|
|
NM_000257.4(MYH7):c.5283T>G (p.Asp1761Glu)
|
rs1892149011
|
|
NM_000257.4(MYH7):c.5291T>C (p.Met1764Thr)
|
rs1284464290
|
|
NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr)
|
rs267606909
|
|
NM_000257.4(MYH7):c.530+3G>A
|
rs2138683909
|
|
NM_000257.4(MYH7):c.5346GAA[2] (p.Lys1784del)
|
rs730880935
|
|
NM_000257.4(MYH7):c.5368A>G (p.Ile1790Val)
|
rs2138638553
|
|
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)
|
rs730880816
|
|
NM_000257.4(MYH7):c.5407A>G (p.Ile1803Val)
|
rs1892134813
|
|
NM_000257.4(MYH7):c.5414T>G (p.Leu1805Arg)
|
|
|
NM_000257.4(MYH7):c.5420del (p.Gly1807fs)
|
|
|
NM_000257.4(MYH7):c.5428A>C (p.Lys1810Gln)
|
rs2138638325
|
|
NM_000257.4(MYH7):c.5434C>G (p.Leu1812Val)
|
rs2138638313
|
|
NM_000257.4(MYH7):c.5458C>G (p.Arg1820Gly)
|
rs145734640
|
|
NM_000257.4(MYH7):c.5469_5471delinsATG (p.Asn1824Cys)
|
rs1060499881
|
|
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly)
|
rs1595071680
|
|
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys)
|
rs201865159
|
|
NM_000257.4(MYH7):c.5500G>T (p.Ala1834Ser)
|
rs143362532
|
|
NM_000257.4(MYH7):c.5506T>G (p.Ser1836Ala)
|
rs1892127650
|
|
NM_000257.4(MYH7):c.5516G>A (p.Gly1839Asp)
|
rs1566522362
|
|
NM_000257.4(MYH7):c.5528G>C (p.Ser1843Thr)
|
|
|
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp)
|
rs28933098
|
|
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln)
|
rs730880822
|
|
NM_000257.4(MYH7):c.5536C>G (p.Arg1846Gly)
|
rs12590294
|
|
NM_000257.4(MYH7):c.554C>T (p.Thr185Ile)
|
rs2138682451
|
|
NM_000257.4(MYH7):c.5556C>G (p.Tyr1852Ter)
|
rs730880823
|
|
NM_000257.4(MYH7):c.5560-7C>A
|
rs778224065
|
|
NM_000257.4(MYH7):c.5630C>T (p.Ala1877Val)
|
rs2138635866
|
|
NM_000257.4(MYH7):c.5638C>G (p.Arg1880Gly)
|
rs1057522617
|
|
NM_000257.4(MYH7):c.5641C>T (p.Gln1881Ter)
|
rs1892080773
|
|
NM_000257.4(MYH7):c.5690G>A (p.Arg1897His)
|
rs727503240
|
|
NM_000257.4(MYH7):c.5704G>A (p.Glu1902Lys)
|
rs187073962
|
|
NM_000257.4(MYH7):c.5725C>T (p.Arg1909Trp)
|
rs146796870
|
|
NM_000257.4(MYH7):c.572T>A (p.Val191Asp)
|
rs876661135
|
|
NM_000257.4(MYH7):c.5734A>T (p.Ile1912Phe)
|
rs1396486231
|
|
NM_000257.4(MYH7):c.5761C>T (p.Arg1921Trp)
|
rs539290591
|
|
NM_000257.4(MYH7):c.5771G>T (p.Ser1924Ile)
|
rs786204385
|
|
NM_000257.4(MYH7):c.5790+4G>T
|
|
|
NM_000257.4(MYH7):c.5790+9C>G
|
rs1057521992
|
|
NM_000257.4(MYH7):c.5798A>G (p.Asn1933Ser)
|
rs2138633164
|
|
NM_000257.4(MYH7):c.625C>T (p.Gln209Ter)
|
rs878853840
|
|
NM_000257.4(MYH7):c.639G>C (p.Lys213Asn)
|
rs1892953374
|
|
NM_000257.4(MYH7):c.658A>C (p.Ile220Leu)
|
rs779190577
|
|
NM_000257.4(MYH7):c.658A>G (p.Ile220Val)
|
rs779190577
|
|
NM_000257.4(MYH7):c.715_717del (p.Asp239del)
|
|
|
NM_000257.4(MYH7):c.728G>T (p.Arg243Leu)
|
rs267606910
|
|
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter)
|
rs730880852
|
|
NM_000257.4(MYH7):c.782C>T (p.Ala261Val)
|
rs1892932955
|
|
NM_000257.4(MYH7):c.787A>C (p.Ile263Leu)
|
rs2138681177
|
|
NM_000257.4(MYH7):c.788_789del (p.Ile263fs)
|
|
|
NM_000257.4(MYH7):c.796+4A>G
|
rs1892931557
|
|
NM_000257.4(MYH7):c.797-8G>C
|
|
|
NM_000257.4(MYH7):c.816_817del (p.Arg272fs)
|
rs1399993803
|
|
NM_000257.4(MYH7):c.853A>C (p.Ile285Leu)
|
|
|
NM_000257.4(MYH7):c.88C>T (p.Pro30Ser)
|
rs1016438334
|
|
NM_000257.4(MYH7):c.896-15T>A
|
|
|
NM_000257.4(MYH7):c.908T>G (p.Ile303Ser)
|
rs1892892489
|
|
NM_000257.4(MYH7):c.934T>G (p.Phe312Val)
|
rs761284960
|
|
NM_000257.4(MYH7):c.944A>G (p.Gln315Arg)
|
rs1892890666
|
|
NM_000257.4(MYH7):c.94G>A (p.Asp32Asn)
|
rs2138686791
|
|
NM_000257.4(MYH7):c.967A>G (p.Ile323Val)
|
rs730880860
|
|
NM_000257.4(MYH7):c.976G>A (p.Ala326Thr)
|
rs372731424
|
|
NM_000257.4(MYH7):c.985C>A (p.Leu329Ile)
|
rs1566536367
|
|
NM_000257.4(MYH7):c.999+1G>A
|
rs112040347
|
|
NM_000258.3(MYL3):c.-15T>A
|
|
|
NM_000258.3(MYL3):c.124A>T (p.Ile42Phe)
|
rs1322033572
|
|
NM_000258.3(MYL3):c.127A>G (p.Lys43Glu)
|
rs2106914291
|
|
NM_000258.3(MYL3):c.129+1G>T
|
rs112545893
|
|
NM_000258.3(MYL3):c.158-3C>G
|
rs111668273
|
|
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)
|
rs139794067
|
|
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly)
|
rs139794067
|
|
NM_000258.3(MYL3):c.184G>A (p.Asp62Asn)
|
rs730880954
|
|
NM_000258.3(MYL3):c.1A>G (p.Met1Val)
|
|
|
NM_000258.3(MYL3):c.206T>A (p.Met69Lys)
|
rs1575498236
|
|
NM_000258.3(MYL3):c.214A>G (p.Thr72Ala)
|
|
|
NM_000258.3(MYL3):c.229G>A (p.Gly77Arg)
|
rs1559520411
|
|
NM_000258.3(MYL3):c.274G>A (p.Val92Met)
|
rs770961856
|
|
NM_000258.3(MYL3):c.307+3A>G
|
rs2106909563
|
|
NM_000258.3(MYL3):c.307+4G>T
|
|
|
NM_000258.3(MYL3):c.310C>A (p.Leu104Ile)
|
|
|
NM_000258.3(MYL3):c.31G>A (p.Asp11Asn)
|
|
|
NM_000258.3(MYL3):c.320A>G (p.Lys107Arg)
|
rs1701969420
|
|
NM_000258.3(MYL3):c.338C>T (p.Thr113Ile)
|
rs397516278
|
|
NM_000258.3(MYL3):c.344T>C (p.Leu115Pro)
|
|
|
NM_000258.3(MYL3):c.370A>T (p.Asn124Tyr)
|
rs1278498849
|
|
NM_000258.3(MYL3):c.397T>A (p.Phe133Ile)
|
rs1553639870
|
|
NM_000258.3(MYL3):c.40A>C (p.Lys14Gln)
|
rs1702011948
|
|
NM_000258.3(MYL3):c.413G>A (p.Arg138Gln)
|
rs1057524652
|
|
NM_000258.3(MYL3):c.419T>G (p.Phe140Cys)
|
rs1559520147
|
|
NM_000258.3(MYL3):c.421G>T (p.Asp141Tyr)
|
rs1483805765
|
|
NM_000258.3(MYL3):c.430G>A (p.Gly144Ser)
|
|
|
NM_000258.3(MYL3):c.457del (p.Leu153fs)
|
rs1064793448
|
|
NM_000258.3(MYL3):c.482-9T>A
|
rs1559519895
|
|
NM_000258.3(MYL3):c.484G>A (p.Glu162Lys)
|
rs371642547
|
|
NM_000258.3(MYL3):c.488G>A (p.Arg163Lys)
|
rs752165383
|
|
NM_000258.3(MYL3):c.499G>A (p.Asp167Asn)
|
rs1701956074
|
|
NM_000258.3(MYL3):c.49C>T (p.Pro17Ser)
|
rs1702011848
|
|
NM_000258.3(MYL3):c.4G>T (p.Ala2Ser)
|
rs148310342
|
|
NM_000258.3(MYL3):c.520G>C (p.Ala174Pro)
|
rs397516279
|
|
NM_000258.3(MYL3):c.52A>G (p.Lys18Glu)
|
rs1702011793
|
|
NM_000258.3(MYL3):c.539A>G (p.Asn180Ser)
|
rs1575497410
|
|
NM_000258.3(MYL3):c.551A>G (p.Asn184Ser)
|
|
|
NM_000258.3(MYL3):c.55G>T (p.Ala19Ser)
|
|
|
NM_000258.3(MYL3):c.560-1G>A
|
rs1701953138
|
|
NM_000258.3(MYL3):c.577A>G (p.Met193Val)
|
rs1701951996
|
|
NM_000258.3(MYL3):c.65C>T (p.Ala22Val)
|
rs2106914529
|
|
NM_000258.3(MYL3):c.77C>G (p.Pro26Arg)
|
rs1702011145
|
|
NM_000258.3(MYL3):c.79C>G (p.Pro27Ala)
|
rs1248338056
|
|
NM_000258.3(MYL3):c.80C>G (p.Pro27Arg)
|
rs1210373907
|
|
NM_000258.3(MYL3):c.8C>A (p.Pro3His)
|
rs536404643
|
|
NM_000335.5(SCN5A):c.1762C>T (p.His588Tyr)
|
|
|
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr)
|
rs756474485
|
|
NM_000335.5(SCN5A):c.274-5C>T
|
|
|
NM_000335.5(SCN5A):c.3664G>C (p.Ala1222Pro)
|
rs863225118
|
|
NM_000335.5(SCN5A):c.3743_3744delinsAT (p.Val1248Asp)
|
|
|
NM_000335.5(SCN5A):c.5848G>A (p.Val1950Met)
|
rs41315493
|
|
NM_000335.5(SCN5A):c.5894C>A (p.Ser1965Tyr)
|
|
|
NM_000337.6(SGCD):c.274A>C (p.Lys92Gln)
|
rs1159364901
|
|
NM_000363.5(TNNI3):c.-13C>A
|
rs2147286713
|
|
NM_000363.5(TNNI3):c.104C>T (p.Ala35Val)
|
rs1190447904
|
|
NM_000363.5(TNNI3):c.114A>T (p.Lys38Asn)
|
rs730881066
|
|
NM_000363.5(TNNI3):c.114del (p.Lys38fs)
|
rs772607683
|
|
NM_000363.5(TNNI3):c.114dup (p.Ser39fs)
|
rs772607683
|
|
NM_000363.5(TNNI3):c.116C>G (p.Ser39Cys)
|
rs2085732731
|
|
NM_000363.5(TNNI3):c.122T>A (p.Ile41Asn)
|
rs2085732683
|
|
NM_000363.5(TNNI3):c.125C>T (p.Ser42Phe)
|
rs2085732640
|
|
NM_000363.5(TNNI3):c.136A>T (p.Lys46Ter)
|
rs2085732554
|
|
NM_000363.5(TNNI3):c.150+8C>T
|
rs1568859373
|
|
NM_000363.5(TNNI3):c.15C>A (p.Ser5Arg)
|
rs989588363
|
|
NM_000363.5(TNNI3):c.173A>C (p.Lys58Thr)
|
rs878853955
|
|
NM_000363.5(TNNI3):c.175C>G (p.Gln59Glu)
|
rs2085729446
|
|
NM_000363.5(TNNI3):c.179A>G (p.Glu60Gly)
|
rs2085729410
|
|
NM_000363.5(TNNI3):c.194C>T (p.Ala65Val)
|
rs1057518784
|
|
NM_000363.5(TNNI3):c.197A>G (p.Glu66Gly)
|
|
|
NM_000363.5(TNNI3):c.204del (p.Arg69fs)
|
rs727504872
|
|
NM_000363.5(TNNI3):c.208G>A (p.Gly70Arg)
|
rs730881067
|
|
NM_000363.5(TNNI3):c.220C>A (p.Arg74Ser)
|
rs375795196
|
|
NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys)
|
rs375795196
|
|
NM_000363.5(TNNI3):c.221_237dup (p.Cys80delinsAlaLeuTer)
|
rs2085728611
|
|
NM_000363.5(TNNI3):c.223G>T (p.Ala75Ser)
|
rs1187997222
|
|
NM_000363.5(TNNI3):c.227T>C (p.Leu76Pro)
|
rs1443859469
|
|
NM_000363.5(TNNI3):c.235C>A (p.Arg79Ser)
|
rs3729712
|
|
NM_000363.5(TNNI3):c.235_236insT (p.Arg79fs)
|
rs2085728638
|
|
NM_000363.5(TNNI3):c.239G>A (p.Cys80Tyr)
|
|
|
NM_000363.5(TNNI3):c.241C>T (p.Gln81Ter)
|
rs2147284889
|
|
NM_000363.5(TNNI3):c.245C>G (p.Pro82Arg)
|
rs752503819
|
|
NM_000363.5(TNNI3):c.25-10_25-8del
|
rs2147286052
|
|
NM_000363.5(TNNI3):c.258del (p.Leu88fs)
|
rs727503507
|
|
NM_000363.5(TNNI3):c.259G>C (p.Gly87Arg)
|
rs1276684253
|
|
NM_000363.5(TNNI3):c.260G>C (p.Gly87Ala)
|
rs2085728343
|
|
NM_000363.5(TNNI3):c.271G>A (p.Ala91Thr)
|
rs1568859108
|
|
NM_000363.5(TNNI3):c.274G>A (p.Glu92Lys)
|
rs2085728215
|
|
NM_000363.5(TNNI3):c.283-10C>A
|
rs1470947353
|
|
NM_000363.5(TNNI3):c.292C>G (p.Arg98Gly)
|
rs730881068
|
|
NM_000363.5(TNNI3):c.298C>T (p.Leu100Phe)
|
rs773216333
|
|
NM_000363.5(TNNI3):c.307C>A (p.Arg103Ser)
|
rs397516344
|
|
NM_000363.5(TNNI3):c.30G>T (p.Arg10Ser)
|
rs2085738998
|
|
NM_000363.5(TNNI3):c.318G>C (p.Lys106Asn)
|
rs750350912
|
|
NM_000363.5(TNNI3):c.328G>A (p.Glu110Lys)
|
rs2147283707
|
|
NM_000363.5(TNNI3):c.337G>T (p.Asp113Tyr)
|
|
|
NM_000363.5(TNNI3):c.346G>A (p.Ala116Thr)
|
rs2085716374
|
|
NM_000363.5(TNNI3):c.362A>T (p.Asn121Ile)
|
rs2085716252
|
|
NM_000363.5(TNNI3):c.371_372+4del
|
rs2085716080
|
|
NM_000363.5(TNNI3):c.373-11T>C
|
rs746918706
|
|
NM_000363.5(TNNI3):c.389A>G (p.Gln130Arg)
|
rs1390435424
|
|
NM_000363.5(TNNI3):c.421C>G (p.Arg141Gly)
|
rs730881071
|
|
NM_000363.5(TNNI3):c.458C>T (p.Ala153Val)
|
rs730881073
|
|
NM_000363.5(TNNI3):c.48_64del (p.Ala17fs)
|
rs2085738631
|
|
NM_000363.5(TNNI3):c.500T>C (p.Leu167Pro)
|
rs1391407750
|
|
NM_000363.5(TNNI3):c.52C>G (p.Pro18Ala)
|
rs779416591
|
|
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly)
|
rs1060499912
|
|
NM_000363.5(TNNI3):c.548A>G (p.Lys183Arg)
|
|
|
NM_000363.5(TNNI3):c.550-12G>T
|
|
|
NM_000363.5(TNNI3):c.55A>C (p.Ile19Leu)
|
rs755862334
|
|
NM_000363.5(TNNI3):c.578A>G (p.Lys193Arg)
|
|
|
NM_000363.5(TNNI3):c.581A>C (p.Asn194Thr)
|
rs730881081
|
|
NM_000363.5(TNNI3):c.586G>T (p.Asp196Tyr)
|
rs104894727
|
|
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val)
|
rs397516359
|
|
NM_000363.5(TNNI3):c.64C>G (p.Arg22Gly)
|
rs2085738602
|
|
NM_000363.5(TNNI3):c.67TCC[1] (p.Ser24del)
|
rs2085738445
|
|
NM_000363.5(TNNI3):c.71C>T (p.Ser24Phe)
|
rs1056846497
|
|
NM_000363.5(TNNI3):c.73A>G (p.Asn25Asp)
|
rs2085738407
|
|
NM_000363.5(TNNI3):c.74A>T (p.Asn25Ile)
|
rs1555864368
|
|
NM_000363.5(TNNI3):c.75C>G (p.Asn25Lys)
|
rs1568859781
|
|
NM_000363.5(TNNI3):c.82G>T (p.Ala28Ser)
|
|
|
NM_000363.5(TNNI3):c.88G>A (p.Ala30Thr)
|
rs796104366
|
|
NM_000363.5(TNNI3):c.91A>G (p.Thr31Ala)
|
rs1298916040
|
|
NM_000371.4(TTR):c.*8C>A
|
|
|
NM_000371.4(TTR):c.201-8C>A
|
|
|
NM_000371.4(TTR):c.231del (p.Leu78fs)
|
|
|
NM_000371.4(TTR):c.302C>T (p.Ala101Val)
|
rs1555631417
|
|
NM_000371.4(TTR):c.356A>C (p.Asp119Ala)
|
rs761127889
|
|
NM_000371.4(TTR):c.358T>C (p.Ser120Pro)
|
rs76591836
|
|
NM_000371.4(TTR):c.385G>T (p.Ala129Ser)
|
rs267607159
|
|
NM_000371.4(TTR):c.62G>C (p.Gly21Ala)
|
rs1469623969
|
|
NM_000432.4(MYL2):c.-12G>A
|
rs886048962
|
|
NM_000432.4(MYL2):c.-16_-13del
|
rs2071716291
|
|
NM_000432.4(MYL2):c.103A>G (p.Ile35Val)
|
rs730880946
|
|
NM_000432.4(MYL2):c.110A>G (p.Asp37Gly)
|
rs2136774114
|
|
NM_000432.4(MYL2):c.11A>G (p.Lys4Arg)
|
|
|
NM_000432.4(MYL2):c.135C>A (p.Asp45Glu)
|
rs199474807
|
|
NM_000432.4(MYL2):c.139A>T (p.Asn47Tyr)
|
rs2136774049
|
|
NM_000432.4(MYL2):c.142G>C (p.Asp48His)
|
rs727504405
|
|
NM_000432.4(MYL2):c.144T>A (p.Asp48Glu)
|
rs2136774026
|
|
NM_000432.4(MYL2):c.151G>T (p.Asp51Tyr)
|
rs2071683858
|
|
NM_000432.4(MYL2):c.161C>T (p.Ala54Val)
|
rs2136773989
|
|
NM_000432.4(MYL2):c.176T>A (p.Val59Glu)
|
rs2071674771
|
|
NM_000432.4(MYL2):c.181G>A (p.Val61Met)
|
rs730880949
|
|
NM_000432.4(MYL2):c.188del (p.Asn63fs)
|
rs1177936172
|
|
NM_000432.4(MYL2):c.216G>C (p.Glu72Asp)
|
rs376506450
|
|
NM_000432.4(MYL2):c.241G>A (p.Val81Met)
|
rs762872370
|
|
NM_000432.4(MYL2):c.274+6G>T
|
rs776878088
|
|
NM_000432.4(MYL2):c.275-1G>A
|
rs764312941
|
|
NM_000432.4(MYL2):c.275-2A>G
|
rs112557362
|
|
NM_000432.4(MYL2):c.275G>A (p.Gly92Glu)
|
rs727503297
|
|
NM_000432.4(MYL2):c.298C>G (p.Leu100Val)
|
rs573898913
|
|
NM_000432.4(MYL2):c.299_309del (p.Leu100fs)
|
rs2071666850
|
|
NM_000432.4(MYL2):c.302A>G (p.Asn101Ser)
|
rs886048960
|
|
NM_000432.4(MYL2):c.304G>A (p.Ala102Thr)
|
rs369868176
|
|
NM_000432.4(MYL2):c.304G>T (p.Ala102Ser)
|
rs369868176
|
|
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys)
|
rs547860537
|
|
NM_000432.4(MYL2):c.310A>C (p.Lys104Gln)
|
rs199474811
|
|
NM_000432.4(MYL2):c.310A>G (p.Lys104Glu)
|
rs199474811
|
|
NM_000432.4(MYL2):c.316_319del (p.Phe106fs)
|
rs2071666714
|
|
NM_000432.4(MYL2):c.31G>C (p.Gly11Arg)
|
rs397516402
|
|
NM_000432.4(MYL2):c.337dup (p.Val113fs)
|
|
|
NM_000432.4(MYL2):c.341T>G (p.Leu114Arg)
|
rs2071666465
|
|
NM_000432.4(MYL2):c.347C>T (p.Ala116Val)
|
rs1566148270
|
|
NM_000432.4(MYL2):c.34G>A (p.Gly12Ser)
|
rs730880937
|
|
NM_000432.4(MYL2):c.353+6T>A
|
rs372824804
|
|
NM_000432.4(MYL2):c.358C>T (p.Arg120Trp)
|
rs397516404
|
|
NM_000432.4(MYL2):c.35G>T (p.Gly12Val)
|
rs762584624
|
|
NM_000432.4(MYL2):c.376C>G (p.Gln126Glu)
|
rs1064796377
|
|
NM_000432.4(MYL2):c.391T>A (p.Ser131Thr)
|
|
|
NM_000432.4(MYL2):c.4-3C>G
|
|
|
NM_000432.4(MYL2):c.402+3A>G
|
rs113740554
|
|
NM_000432.4(MYL2):c.424T>C (p.Phe142Leu)
|
rs747192296
|
|
NM_000432.4(MYL2):c.430C>T (p.Pro144Ser)
|
rs777689913
|
|
NM_000432.4(MYL2):c.431C>A (p.Pro144His)
|
rs755993281
|
|
NM_000432.4(MYL2):c.431_432del (p.Pro144fs)
|
rs1566147422
|
|
NM_000432.4(MYL2):c.433G>T (p.Asp145Tyr)
|
rs199567559
|
|
NM_000432.4(MYL2):c.435C>G (p.Asp145Glu)
|
rs766907447
|
|
NM_000432.4(MYL2):c.438dup (p.Thr147fs)
|
rs2071649166
|
|
NM_000432.4(MYL2):c.441_442insTCACT (p.Gly148fs)
|
rs2071649075
|
|
NM_000432.4(MYL2):c.449T>C (p.Leu150Ser)
|
rs2071648869
|
|
NM_000432.4(MYL2):c.475A>G (p.Ile159Val)
|
rs747098269
|
|
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg)
|
rs199474814
|
|
NM_000432.4(MYL2):c.49del (p.Val17fs)
|
rs2136777366
|
|
NM_000432.4(MYL2):c.56C>G (p.Ser19Cys)
|
rs2071704028
|
|
NM_000432.4(MYL2):c.58A>G (p.Met20Val)
|
rs199474816
|
|
NM_000432.4(MYL2):c.81G>C (p.Gln27His)
|
rs1566150393
|
|
NM_000432.4(MYL2):c.84A>T (p.Glu28Asp)
|
rs397516410
|
|
NM_000432.4(MYL2):c.92_93+1del
|
rs751392310
|
|
NM_000432.4(MYL2):c.93+5G>A
|
rs2071703564
|
|
NM_001005242.3(PKP2):c.-15G>A
|
rs886049325
|
|
NM_001005242.3(PKP2):c.-15G>C
|
rs886049325
|
|
NM_001005242.3(PKP2):c.-15G>T
|
rs886049325
|
|
NM_001005242.3(PKP2):c.-6G>T
|
|
|
NM_001005242.3(PKP2):c.-9A>C
|
rs1957129622
|
|
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro)
|
rs770443705
|
|
NM_001005242.3(PKP2):c.101C>G (p.Ser34Cys)
|
rs1957128054
|
|
NM_001005242.3(PKP2):c.1028A>G (p.Gln343Arg)
|
rs762744983
|
|
NM_001005242.3(PKP2):c.1035-10G>T
|
rs1448052777
|
|
NM_001005242.3(PKP2):c.1035-13C>T
|
rs1189037360
|
|
NM_001005242.3(PKP2):c.103G>A (p.Glu35Lys)
|
|
|
NM_001005242.3(PKP2):c.1048G>A (p.Glu350Lys)
|
rs147264025
|
|
NM_001005242.3(PKP2):c.1073G>A (p.Ser358Asn)
|
rs1215591759
|
|
NM_001005242.3(PKP2):c.1081G>A (p.Glu361Lys)
|
|
|
NM_001005242.3(PKP2):c.1114G>A (p.Ala372Thr)
|
rs200586695
|
|
NM_001005242.3(PKP2):c.1133A>G (p.Gln378Arg)
|
rs1956873618
|
|
NM_001005242.3(PKP2):c.1154C>G (p.Ser385Cys)
|
rs1956873230
|
|
NM_001005242.3(PKP2):c.1163G>C (p.Arg388Pro)
|
rs756000218
|
|
NM_001005242.3(PKP2):c.1170+5G>A
|
rs794729105
|
|
NM_001005242.3(PKP2):c.1183C>A (p.Arg395Ser)
|
rs761238380
|
|
NM_001005242.3(PKP2):c.1184G>A (p.Arg395His)
|
rs773611613
|
|
NM_001005242.3(PKP2):c.118C>G (p.Leu40Val)
|
rs1039022167
|
|
NM_001005242.3(PKP2):c.1201C>A (p.Leu401Met)
|
|
|
NM_001005242.3(PKP2):c.1202T>A (p.Leu401Gln)
|
|
|
NM_001005242.3(PKP2):c.122C>T (p.Ala41Val)
|
rs1220759009
|
|
NM_001005242.3(PKP2):c.1244T>G (p.Val415Gly)
|
rs1335415987
|
|
NM_001005242.3(PKP2):c.1249G>A (p.Gly417Arg)
|
rs1956690284
|
|
NM_001005242.3(PKP2):c.1270T>A (p.Phe424Ile)
|
rs1956690020
|
|
NM_001005242.3(PKP2):c.1293_1294delinsAGTTC (p.Glu432delinsValGln)
|
rs1956689523
|
|
NM_001005242.3(PKP2):c.1319C>T (p.Pro440Leu)
|
rs1956689076
|
|
NM_001005242.3(PKP2):c.131G>A (p.Ser44Asn)
|
|
|
NM_001005242.3(PKP2):c.1328T>C (p.Leu443Pro)
|
rs1314470423
|
|
NM_001005242.3(PKP2):c.134G>A (p.Gly45Asp)
|
|
|
NM_001005242.3(PKP2):c.1377A>T (p.Thr459=)
|
rs1565590176
|
|
NM_001005242.3(PKP2):c.1379-1976G>T
|
rs1332615728
|
|
NM_001005242.3(PKP2):c.1379-1984C>G
|
rs759017992
|
|
NM_001005242.3(PKP2):c.1379-1985A>G
|
rs1193122924
|
|
NM_001005242.3(PKP2):c.1379-1986G>T
|
rs1956614139
|
|
NM_001005242.3(PKP2):c.1379-1989C>A
|
|
|
NM_001005242.3(PKP2):c.1379-1997G>T
|
rs781072699
|
|
NM_001005242.3(PKP2):c.1379-2013A>T
|
|
|
NM_001005242.3(PKP2):c.1379-2018G>T
|
rs369518480
|
|
NM_001005242.3(PKP2):c.1379-2039C>T
|
rs1257306156
|
|
NM_001005242.3(PKP2):c.1379-2047_1379-2043del
|
rs775995156
|
|
NM_001005242.3(PKP2):c.1379-2056C>A
|
rs749052785
|
|
NM_001005242.3(PKP2):c.1379-2067_1379-2066delinsAT
|
rs2137838213
|
|
NM_001005242.3(PKP2):c.1379-2070G>T
|
|
|
NM_001005242.3(PKP2):c.1379-2072C>G
|
rs758950276
|
|
NM_001005242.3(PKP2):c.1379-2075_1379-2074dup
|
|
|
NM_001005242.3(PKP2):c.1379-2107C>A
|
rs751862142
|
|
NM_001005242.3(PKP2):c.1379-2112_1379-2099del
|
rs1956617072
|
|
NM_001005242.3(PKP2):c.1382T>C (p.Leu461Ser)
|
|
|
NM_001005242.3(PKP2):c.1395G>T (p.Leu465Phe)
|
rs1956588629
|
|
NM_001005242.3(PKP2):c.139GGC[3] (p.Gly48dup)
|
rs944330366
|
|
NM_001005242.3(PKP2):c.1406A>T (p.Asp469Val)
|
rs2137830944
|
|
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg)
|
rs749926313
|
|
NM_001005242.3(PKP2):c.1435G>T (p.Ala479Ser)
|
rs766622938
|
|
NM_001005242.3(PKP2):c.1442T>G (p.Leu481Arg)
|
rs397516998
|
|
NM_001005242.3(PKP2):c.1478G>C (p.Gly493Ala)
|
rs1956587234
|
|
NM_001005242.3(PKP2):c.1515G>T (p.Leu505Phe)
|
|
|
NM_001005242.3(PKP2):c.1516C>T (p.Leu506Phe)
|
rs1956586574
|
|
NM_001005242.3(PKP2):c.1519G>T (p.Asp507Tyr)
|
rs763427502
|
|
NM_001005242.3(PKP2):c.1547G>T (p.Gly516Val)
|
rs1402108604
|
|
NM_001005242.3(PKP2):c.1556G>A (p.Arg519Lys)
|
rs2137829798
|
|
NM_001005242.3(PKP2):c.1557-14_1557-8del
|
rs1220372775
|
|
NM_001005242.3(PKP2):c.1573G>A (p.Gly525Ser)
|
rs1956410714
|
|
NM_001005242.3(PKP2):c.1577C>T (p.Ala526Val)
|
|
|
NM_001005242.3(PKP2):c.1583G>A (p.Gly528Glu)
|
rs2137783679
|
|
NM_001005242.3(PKP2):c.1594A>T (p.Met532Leu)
|
rs1298544159
|
|
NM_001005242.3(PKP2):c.1597AGA[1] (p.Arg534del)
|
rs1956409943
|
|
NM_001005242.3(PKP2):c.159C>A (p.Ser53Arg)
|
rs770694213
|
|
NM_001005242.3(PKP2):c.1612C>T (p.Leu538Phe)
|
rs794729134
|
|
NM_001005242.3(PKP2):c.1613T>C (p.Leu538Pro)
|
rs1565581687
|
|
NM_001005242.3(PKP2):c.1636G>A (p.Val546Ile)
|
rs1475361697
|
|
NM_001005242.3(PKP2):c.1658A>C (p.Tyr553Ser)
|
rs1956408680
|
|
NM_001005242.3(PKP2):c.1663C>A (p.Pro555Thr)
|
rs771808028
|
|
NM_001005242.3(PKP2):c.1674G>C (p.Lys558Asn)
|
|
|
NM_001005242.3(PKP2):c.1674G>T (p.Lys558Asn)
|
rs1956408431
|
|
NM_001005242.3(PKP2):c.1690G>A (p.Val564Met)
|
rs1565581029
|
|
NM_001005242.3(PKP2):c.1696A>G (p.Ile566Val)
|
rs794729110
|
|
NM_001005242.3(PKP2):c.16G>T (p.Ala6Ser)
|
rs1190256335
|
|
NM_001005242.3(PKP2):c.1707C>G (p.Asn569Lys)
|
rs1254113735
|
|
NM_001005242.3(PKP2):c.1748C>T (p.Ser583Phe)
|
rs769817013
|
|
NM_001005242.3(PKP2):c.176A>G (p.Gln59Arg)
|
|
|
NM_001005242.3(PKP2):c.1771C>T (p.Arg591Trp)
|
rs778928536
|
|
NM_001005242.3(PKP2):c.1775A>T (p.Asn592Ile)
|
rs1264675248
|
|
NM_001005242.3(PKP2):c.1791C>A (p.Asn597Lys)
|
|
|
NM_001005242.3(PKP2):c.1813G>C (p.Gly605Arg)
|
rs1956389925
|
|
NM_001005242.3(PKP2):c.1831G>A (p.Val611Ile)
|
|
|
NM_001005242.3(PKP2):c.1831G>T (p.Val611Leu)
|
rs1003410304
|
|
NM_001005242.3(PKP2):c.1843T>C (p.Tyr615His)
|
rs1221180761
|
|
NM_001005242.3(PKP2):c.1856C>T (p.Pro619Leu)
|
rs1056066633
|
|
NM_001005242.3(PKP2):c.1862C>G (p.Pro621Arg)
|
rs773061639
|
|
NM_001005242.3(PKP2):c.1862C>T (p.Pro621Leu)
|
rs773061639
|
|
NM_001005242.3(PKP2):c.1879C>T (p.Pro627Ser)
|
rs1956377569
|
|
NM_001005242.3(PKP2):c.1888G>C (p.Val630Leu)
|
rs143038626
|
|
NM_001005242.3(PKP2):c.1903C>T (p.His635Tyr)
|
rs757922359
|
|
NM_001005242.3(PKP2):c.1938C>G (p.Ile646Met)
|
|
|
NM_001005242.3(PKP2):c.1960A>G (p.Thr654Ala)
|
rs1956375175
|
|
NM_001005242.3(PKP2):c.1981G>A (p.Ala661Thr)
|
rs1199864691
|
|
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met)
|
rs397517016
|
|
NM_001005242.3(PKP2):c.2003G>A (p.Gly668Glu)
|
rs1348373466
|
|
NM_001005242.3(PKP2):c.2006G>A (p.Ser669Asn)
|
|
|
NM_001005242.3(PKP2):c.2008G>A (p.Gly670Arg)
|
|
|
NM_001005242.3(PKP2):c.2023_2024delinsCT (p.Ser675Leu)
|
rs1956192621
|
|
NM_001005242.3(PKP2):c.202G>A (p.Gly68Ser)
|
rs794729114
|
|
NM_001005242.3(PKP2):c.2030C>G (p.Ala677Gly)
|
rs1359431679
|
|
NM_001005242.3(PKP2):c.2057G>A (p.Gly686Asp)
|
|
|
NM_001005242.3(PKP2):c.2097_2099dup (p.Pro699_Ser700insArg)
|
rs1324822103
|
|
NM_001005242.3(PKP2):c.214G>T (p.Val72Leu)
|
rs397517019
|
|
NM_001005242.3(PKP2):c.2172A>T (p.Lys724Asn)
|
rs752507257
|
|
NM_001005242.3(PKP2):c.217G>T (p.Gly73Cys)
|
rs2138009825
|
|
NM_001005242.3(PKP2):c.2182C>T (p.Pro728Ser)
|
|
|
NM_001005242.3(PKP2):c.2216C>A (p.Pro739Gln)
|
rs758834771
|
|
NM_001005242.3(PKP2):c.2224G>A (p.Asp742Asn)
|
rs1956122133
|
|
NM_001005242.3(PKP2):c.2228T>G (p.Leu743Arg)
|
rs145553222
|
|
NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn)
|
rs543233804
|
|
NM_001005242.3(PKP2):c.223G>C (p.Gly75Arg)
|
rs765852160
|
|
NM_001005242.3(PKP2):c.224-13T>G
|
|
|
NM_001005242.3(PKP2):c.224-3C>G
|
rs786204387
|
|
NM_001005242.3(PKP2):c.2248T>G (p.Ser750Ala)
|
rs1431341096
|
|
NM_001005242.3(PKP2):c.2261C>G (p.Thr754Arg)
|
rs1481690663
|
|
NM_001005242.3(PKP2):c.2277C>G (p.Ile759Met)
|
rs1956120923
|
|
NM_001005242.3(PKP2):c.2283C>G (p.Asn761Lys)
|
rs774405490
|
|
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys)
|
rs139734328
|
|
NM_001005242.3(PKP2):c.2320G>A (p.Gly774Ser)
|
rs1592726250
|
|
NM_001005242.3(PKP2):c.2321G>A (p.Gly774Asp)
|
rs1192534020
|
|
NM_001005242.3(PKP2):c.2321G>T (p.Gly774Val)
|
rs1192534020
|
|
NM_001005242.3(PKP2):c.232C>A (p.His78Asn)
|
rs1956962463
|
|
NM_001005242.3(PKP2):c.2332A>T (p.Ile778Phe)
|
rs145324631
|
|
NM_001005242.3(PKP2):c.2348C>T (p.Ala783Val)
|
|
|
NM_001005242.3(PKP2):c.2357C>T (p.Ala786Val)
|
|
|
NM_001005242.3(PKP2):c.2380A>G (p.Lys794Glu)
|
rs1247384437
|
|
NM_001005242.3(PKP2):c.2402A>G (p.Tyr801Cys)
|
rs1060501187
|
|
NM_001005242.3(PKP2):c.2405C>A (p.Ser802Tyr)
|
rs768808114
|
|
NM_001005242.3(PKP2):c.2416C>G (p.His806Asp)
|
rs2137697992
|
|
NM_001005242.3(PKP2):c.2419A>G (p.Thr807Ala)
|
|
|
NM_001005242.3(PKP2):c.2446G>A (p.Ala816Thr)
|
rs1956078237
|
|
NM_001005242.3(PKP2):c.2446G>T (p.Ala816Ser)
|
rs1956078237
|
|
NM_001005242.3(PKP2):c.244A>C (p.Ser82Arg)
|
|
|
NM_001005242.3(PKP2):c.2461A>G (p.Thr821Ala)
|
|
|
NM_001005242.3(PKP2):c.2473A>G (p.Asn825Asp)
|
|
|
NM_001005242.3(PKP2):c.2489A>G (p.Lys830Arg)
|
rs1956077369
|
|
NM_001005242.3(PKP2):c.2491G>T (p.Ala831Ser)
|
rs1202929042
|
|
NM_001005242.3(PKP2):c.250C>T (p.Pro84Ser)
|
rs756468173
|
|
NM_001005242.3(PKP2):c.2511_2513delinsATT (p.Asp837_Ter838delinsGluLeu)
|
rs2137697058
|
|
NM_001005242.3(PKP2):c.265A>T (p.Asn89Tyr)
|
rs1335621190
|
|
NM_001005242.3(PKP2):c.28T>C (p.Tyr10His)
|
rs1237779872
|
|
NM_001005242.3(PKP2):c.307C>G (p.Pro103Ala)
|
rs139215336
|
|
NM_001005242.3(PKP2):c.31G>A (p.Gly11Ser)
|
|
|
NM_001005242.3(PKP2):c.31G>T (p.Gly11Cys)
|
rs1250140346
|
|
NM_001005242.3(PKP2):c.328A>G (p.Met110Val)
|
|
|
NM_001005242.3(PKP2):c.336G>A (p.Lys112=)
|
rs2137952432
|
|
NM_001005242.3(PKP2):c.365G>A (p.Arg122His)
|
rs201306582
|
|
NM_001005242.3(PKP2):c.365G>T (p.Arg122Leu)
|
rs201306582
|
|
NM_001005242.3(PKP2):c.367T>C (p.Trp123Arg)
|
rs1956956697
|
|
NM_001005242.3(PKP2):c.373A>G (p.Arg125Gly)
|
rs1565599588
|
|
NM_001005242.3(PKP2):c.377G>A (p.Gly126Glu)
|
rs2137951017
|
|
NM_001005242.3(PKP2):c.388T>C (p.Tyr130His)
|
|
|
NM_001005242.3(PKP2):c.406G>T (p.Val136Leu)
|
rs567795321
|
|
NM_001005242.3(PKP2):c.428_430dup (p.His143dup)
|
rs2137950571
|
|
NM_001005242.3(PKP2):c.454_456del (p.Pro152del)
|
rs1956955180
|
|
NM_001005242.3(PKP2):c.478C>T (p.His160Tyr)
|
rs1360804472
|
|
NM_001005242.3(PKP2):c.491G>A (p.Ser164Asn)
|
|
|
NM_001005242.3(PKP2):c.500A>G (p.Gln167Arg)
|
rs1956954474
|
|
NM_001005242.3(PKP2):c.520G>T (p.Ala174Ser)
|
rs2137949857
|
|
NM_001005242.3(PKP2):c.523G>T (p.Gly175Trp)
|
rs2137949835
|
|
NM_001005242.3(PKP2):c.527A>G (p.His176Arg)
|
rs1380823797
|
|
NM_001005242.3(PKP2):c.529A>G (p.Thr177Ala)
|
rs1956954122
|
|
NM_001005242.3(PKP2):c.568G>A (p.Val190Met)
|
rs772384894
|
|
NM_001005242.3(PKP2):c.584C>T (p.Ala195Val)
|
rs1041783952
|
|
NM_001005242.3(PKP2):c.586C>T (p.Arg196Cys)
|
rs748957791
|
|
NM_001005242.3(PKP2):c.592G>A (p.Glu198Lys)
|
rs1040585677
|
|
NM_001005242.3(PKP2):c.599T>C (p.Val200Ala)
|
rs1591828837
|
|
NM_001005242.3(PKP2):c.629G>A (p.Arg210Lys)
|
rs1555148132
|
|
NM_001005242.3(PKP2):c.655A>G (p.Arg219Gly)
|
rs1309098966
|
|
NM_001005242.3(PKP2):c.746G>C (p.Ser249Thr)
|
|
|
NM_001005242.3(PKP2):c.746G>T (p.Ser249Ile)
|
rs1085307949
|
|
NM_001005242.3(PKP2):c.748C>A (p.Arg250Ser)
|
rs577631447
|
|
NM_001005242.3(PKP2):c.754A>G (p.Met252Val)
|
rs1956951277
|
|
NM_001005242.3(PKP2):c.758G>C (p.Gly253Ala)
|
rs1396012405
|
|
NM_001005242.3(PKP2):c.764T>A (p.Leu255His)
|
rs1956951118
|
|
NM_001005242.3(PKP2):c.802G>T (p.Val268Phe)
|
rs746144782
|
|
NM_001005242.3(PKP2):c.811G>T (p.Val271Phe)
|
rs876657953
|
|
NM_001005242.3(PKP2):c.848A>T (p.Asn283Ile)
|
rs2137947371
|
|
NM_001005242.3(PKP2):c.850A>G (p.Arg284Gly)
|
rs768451308
|
|
NM_001005242.3(PKP2):c.896G>A (p.Arg299His)
|
rs755425370
|
|
NM_001005242.3(PKP2):c.89T>A (p.Leu30Gln)
|
rs1957128191
|
|
NM_001005242.3(PKP2):c.916C>T (p.Pro306Ser)
|
rs1209340253
|
|
NM_001005242.3(PKP2):c.922G>T (p.Val308Phe)
|
rs1956947894
|
|
NM_001005242.3(PKP2):c.934T>C (p.Ser312Pro)
|
rs756604557
|
|
NM_001005242.3(PKP2):c.940G>A (p.Gly314Arg)
|
rs551812289
|
|
NM_001005242.3(PKP2):c.964G>A (p.Gly322Ser)
|
rs200069860
|
|
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
|
|
|
NM_001005242.3(PKP2):c.969G>C (p.Gln323His)
|
rs879170191
|
|
NM_001005242.3(PKP2):c.977C>A (p.Ala326Glu)
|
rs762949110
|
|
NM_001005242.3(PKP2):c.979G>T (p.Gly327Trp)
|
rs1956945922
|
|
NM_001005242.3(PKP2):c.980G>A (p.Gly327Glu)
|
rs759660796
|
|
NM_001005242.3(PKP2):c.980G>C (p.Gly327Ala)
|
rs759660796
|
|
NM_001005242.3(PKP2):c.980G>T (p.Gly327Val)
|
rs759660796
|
|
NM_001005242.3(PKP2):c.985A>T (p.Ser329Cys)
|
rs779173447
|
|
NM_001018004.2(TPM1):c.773-1206C>G
|
rs771167283
|
|
NM_001018004.2(TPM1):c.773-1225T>C
|
rs2036507718
|
|
NM_001018005.2(TPM1):c.*5_*8del
|
rs786204415
|
|
NM_001018005.2(TPM1):c.-10C>T
|
|
|
NM_001018005.2(TPM1):c.-12G>A
|
|
|
NM_001018005.2(TPM1):c.-15C>G
|
|
|
NM_001018005.2(TPM1):c.-7C>T
|
|
|
NM_001018005.2(TPM1):c.100G>A (p.Asp34Asn)
|
|
|
NM_001018005.2(TPM1):c.104G>A (p.Arg35Lys)
|
rs730881152
|
|
NM_001018005.2(TPM1):c.106A>C (p.Ser36Arg)
|
|
|
NM_001018005.2(TPM1):c.112C>G (p.Gln38Glu)
|
rs1060501863
|
|
NM_001018005.2(TPM1):c.115-7C>T
|
rs1566937651
|
|
NM_001018005.2(TPM1):c.152A>C (p.Lys51Thr)
|
rs1566937728
|
|
NM_001018005.2(TPM1):c.154G>A (p.Gly52Ser)
|
rs730881127
|
|
NM_001018005.2(TPM1):c.164A>G (p.Asp55Gly)
|
rs1566937759
|
|
NM_001018005.2(TPM1):c.182C>G (p.Ser61Cys)
|
rs2031863455
|
|
NM_001018005.2(TPM1):c.185A>G (p.Glu62Gly)
|
rs2031864718
|
|
NM_001018005.2(TPM1):c.196G>C (p.Asp66His)
|
rs2031866819
|
|
NM_001018005.2(TPM1):c.207G>T (p.Glu69Asp)
|
|
|
NM_001018005.2(TPM1):c.20_26dup (p.Met10fs)
|
rs2031422919
|
|
NM_001018005.2(TPM1):c.214G>A (p.Glu72Lys)
|
rs1566937844
|
|
NM_001018005.2(TPM1):c.252C>G (p.Asp84Glu)
|
rs369617788
|
|
NM_001018005.2(TPM1):c.253G>A (p.Val85Ile)
|
rs730881156
|
|
NM_001018005.2(TPM1):c.262C>G (p.Leu88Val)
|
rs1555407795
|
|
NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys)
|
rs1266444831
|
|
NM_001018005.2(TPM1):c.301C>G (p.Arg101Gly)
|
rs769069020
|
|
NM_001018005.2(TPM1):c.304G>A (p.Ala102Thr)
|
rs2140908263
|
|
NM_001018005.2(TPM1):c.319G>C (p.Ala107Pro)
|
|
|
NM_001018005.2(TPM1):c.343G>A (p.Glu115Lys)
|
rs727504313
|
|
NM_001018005.2(TPM1):c.34A>T (p.Lys12Ter)
|
rs2031426015
|
|
NM_001018005.2(TPM1):c.375-11T>A
|
rs2140936883
|
|
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr)
|
rs727503517
|
|
NM_001018005.2(TPM1):c.408A>C (p.Lys136Asn)
|
rs1596372037
|
|
NM_001018005.2(TPM1):c.431A>G (p.Gln144Arg)
|
rs1566962338
|
|
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val)
|
rs1555408679
|
|
NM_001018005.2(TPM1):c.560A>T (p.Glu187Val)
|
rs786204411
|
|
NM_001018005.2(TPM1):c.562G>A (p.Gly188Ser)
|
rs2035531508
|
|
NM_001018005.2(TPM1):c.563+10C>T
|
rs397516377
|
|
NM_001018005.2(TPM1):c.563+6C>G
|
rs397516378
|
|
NM_001018005.2(TPM1):c.564-103G>A
|
rs528733046
|
|
NM_001018005.2(TPM1):c.564-12C>G
|
rs113591254
|
|
NM_001018005.2(TPM1):c.572_573delinsTT (p.Ala191Val)
|
rs730881154
|
|
NM_001018005.2(TPM1):c.586G>T (p.Glu196Ter)
|
rs1131003
|
|
NM_001018005.2(TPM1):c.598_610del (p.Thr199_Val200insTer)
|
rs2035664302
|
|
NM_001018005.2(TPM1):c.617C>G (p.Ser206Ter)
|
rs2140964158
|
|
NM_001018005.2(TPM1):c.620del (p.Leu207fs)
|
rs587777905
|
|
NM_001018005.2(TPM1):c.629A>G (p.Gln210Arg)
|
rs777139450
|
|
NM_001018005.2(TPM1):c.635A>T (p.Glu212Val)
|
rs769951937
|
|
NM_001018005.2(TPM1):c.639+3A>C
|
rs2140964607
|
|
NM_001018005.2(TPM1):c.640-14C>G
|
rs781638696
|
|
NM_001018005.2(TPM1):c.65C>G (p.Ala22Gly)
|
rs2031431973
|
|
NM_001018005.2(TPM1):c.681_682delinsAG (p.Leu228Val)
|
rs2140969876
|
|
NM_001018005.2(TPM1):c.703-8C>G
|
rs2035786670
|
|
NM_001018005.2(TPM1):c.703G>A (p.Ala235Thr)
|
rs2035787414
|
|
NM_001018005.2(TPM1):c.727G>A (p.Glu243Lys)
|
|
|
NM_001018005.2(TPM1):c.731G>A (p.Arg244Lys)
|
rs1566967710
|
|
NM_001018005.2(TPM1):c.735A>G (p.Ser245=)
|
rs771961466
|
|
NM_001018005.2(TPM1):c.746T>G (p.Leu249Trp)
|
rs786204412
|
|
NM_001018005.2(TPM1):c.773-6T>A
|
rs374049254
|
|
NM_001018005.2(TPM1):c.79G>A (p.Ala27Thr)
|
|
|
NM_001018005.2(TPM1):c.842T>G (p.Met281Arg)
|
rs199476321
|
|
NM_001018005.2(TPM1):c.851+5dup
|
rs2036008903
|
|
NM_001018005.2(TPM1):c.94G>T (p.Ala32Ser)
|
rs2140596321
|
|
NM_001018005.2(TPM1):c.95C>T (p.Ala32Val)
|
|
|
NM_001018008.2(TPM1):c.707A>G (p.Asn236Ser)
|
|
|
NM_001035.3(RYR2):c.-13G>A
|
|
|
NM_001035.3(RYR2):c.-1C>T
|
rs1660032119
|
|
NM_001035.3(RYR2):c.-2C>A
|
rs1660031883
|
|
NM_001035.3(RYR2):c.-7C>A
|
rs1660031623
|
|
NM_001035.3(RYR2):c.10035G>C (p.Arg3345Ser)
|
rs754976419
|
|
NM_001035.3(RYR2):c.10036G>C (p.Gly3346Arg)
|
rs1488791858
|
|
NM_001035.3(RYR2):c.10042A>G (p.Met3348Val)
|
rs2149067182
|
|
NM_001035.3(RYR2):c.10069G>C (p.Asp3357His)
|
rs1688606545
|
|
NM_001035.3(RYR2):c.10142+1G>T
|
rs1688613586
|
|
NM_001035.3(RYR2):c.10152G>T (p.Trp3384Cys)
|
rs1232214660
|
|
NM_001035.3(RYR2):c.10190G>A (p.Arg3397His)
|
rs753630324
|
|
NM_001035.3(RYR2):c.10190G>T (p.Arg3397Leu)
|
rs753630324
|
|
NM_001035.3(RYR2):c.10201G>A (p.Glu3401Lys)
|
rs2149069897
|
|
NM_001035.3(RYR2):c.10211T>G (p.Ile3404Ser)
|
rs2149069956
|
|
NM_001035.3(RYR2):c.10283T>G (p.Met3428Arg)
|
rs2149079618
|
|
NM_001035.3(RYR2):c.10314G>T (p.Lys3438Asn)
|
rs2149079692
|
|
NM_001035.3(RYR2):c.10324-9G>T
|
|
|
NM_001035.3(RYR2):c.10364A>G (p.Lys3455Arg)
|
rs1573649552
|
|
NM_001035.3(RYR2):c.10378dup (p.Ser3460fs)
|
rs1689341818
|
|
NM_001035.3(RYR2):c.10382T>C (p.Met3461Thr)
|
rs1689342753
|
|
NM_001035.3(RYR2):c.10412A>T (p.Lys3471Met)
|
rs1689344558
|
|
NM_001035.3(RYR2):c.10468G>T (p.Ala3490Ser)
|
rs1321141557
|
|
NM_001035.3(RYR2):c.10490G>A (p.Ser3497Asn)
|
rs1689350944
|
|
NM_001035.3(RYR2):c.1049G>A (p.Gly350Glu)
|
rs1707881822
|
|
NM_001035.3(RYR2):c.10501_10503delinsGCT (p.Thr3501Ala)
|
rs2149105212
|
|
NM_001035.3(RYR2):c.10528C>A (p.Arg3510Ser)
|
rs201749277
|
|
NM_001035.3(RYR2):c.10528C>T (p.Arg3510Cys)
|
rs201749277
|
|
NM_001035.3(RYR2):c.10549G>A (p.Gly3517Ser)
|
rs1689447350
|
|
NM_001035.3(RYR2):c.10550G>T (p.Gly3517Val)
|
rs1689447516
|
|
NM_001035.3(RYR2):c.10555-5T>G
|
rs2149125350
|
|
NM_001035.3(RYR2):c.10589T>C (p.Leu3530Pro)
|
rs2149125524
|
|
NM_001035.3(RYR2):c.10603C>T (p.Pro3535Ser)
|
rs2149125570
|
|
NM_001035.3(RYR2):c.10631C>G (p.Pro3544Arg)
|
rs752032924
|
|
NM_001035.3(RYR2):c.10631C>T (p.Pro3544Leu)
|
rs752032924
|
|
NM_001035.3(RYR2):c.10648A>G (p.Arg3550Gly)
|
rs1553300589
|
|
NM_001035.3(RYR2):c.10655T>A (p.Leu3552Ter)
|
|
|
NM_001035.3(RYR2):c.10655T>C (p.Leu3552Ser)
|
|
|
NM_001035.3(RYR2):c.10661T>C (p.Ile3554Thr)
|
rs1364277722
|
|
NM_001035.3(RYR2):c.10662A>G (p.Ile3554Met)
|
rs1558290857
|
|
NM_001035.3(RYR2):c.10663G>A (p.Ala3555Thr)
|
rs1689900582
|
|
NM_001035.3(RYR2):c.10679A>T (p.His3560Leu)
|
|
|
NM_001035.3(RYR2):c.10681C>T (p.Leu3561Phe)
|
rs1022428392
|
|
NM_001035.3(RYR2):c.10691A>G (p.Lys3564Arg)
|
rs2149138633
|
|
NM_001035.3(RYR2):c.10693T>C (p.Ser3565Pro)
|
|
|
NM_001035.3(RYR2):c.10703del (p.Val3568fs)
|
rs1690189277
|
|
NM_001035.3(RYR2):c.10792G>A (p.Ala3598Thr)
|
rs1690267868
|
|
NM_001035.3(RYR2):c.10799T>C (p.Val3600Ala)
|
|
|
NM_001035.3(RYR2):c.10813A>G (p.Met3605Val)
|
rs745936598
|
|
NM_001035.3(RYR2):c.10818C>A (p.Ala3606=)
|
rs1558298221
|
|
NM_001035.3(RYR2):c.10846G>T (p.Ala3616Ser)
|
|
|
NM_001035.3(RYR2):c.10853A>G (p.Asn3618Ser)
|
rs1690559112
|
|
NM_001035.3(RYR2):c.10894GAA[1] (p.Glu3633del)
|
rs1690562656
|
|
NM_001035.3(RYR2):c.10904A>G (p.Tyr3635Cys)
|
rs886044331
|
|
NM_001035.3(RYR2):c.10914T>G (p.Asp3638Glu)
|
rs1690563932
|
|
NM_001035.3(RYR2):c.10922T>C (p.Ile3641Thr)
|
rs1060500145
|
|
NM_001035.3(RYR2):c.10933G>A (p.Ala3645Thr)
|
rs1558304228
|
|
NM_001035.3(RYR2):c.10936-2A>G
|
|
|
NM_001035.3(RYR2):c.10940C>T (p.Pro3647Leu)
|
rs776678165
|
|
NM_001035.3(RYR2):c.10943G>T (p.Gly3648Val)
|
rs528573895
|
|
NM_001035.3(RYR2):c.10952C>A (p.Pro3651His)
|
|
|
NM_001035.3(RYR2):c.10969G>A (p.Gly3657Ser)
|
rs1476256919
|
|
NM_001035.3(RYR2):c.10972A>C (p.Thr3658Pro)
|
rs763304030
|
|
NM_001035.3(RYR2):c.10984G>C (p.Asp3662His)
|
|
|
NM_001035.3(RYR2):c.10987C>G (p.Pro3663Ala)
|
rs1299197961
|
|
NM_001035.3(RYR2):c.10993C>T (p.His3665Tyr)
|
rs1374577335
|
|
NM_001035.3(RYR2):c.11002A>G (p.Ile3668Val)
|
rs1558307580
|
|
NM_001035.3(RYR2):c.11018G>T (p.Arg3673Leu)
|
rs778111237
|
|
NM_001035.3(RYR2):c.11039+4del
|
|
|
NM_001035.3(RYR2):c.11039+6G>A
|
rs779549361
|
|
NM_001035.3(RYR2):c.110T>C (p.Leu37Ser)
|
rs1689578487
|
|
NM_001035.3(RYR2):c.11106G>T (p.Glu3702Asp)
|
rs2149211394
|
|
NM_001035.3(RYR2):c.11120G>A (p.Gly3707Asp)
|
rs755613281
|
|
NM_001035.3(RYR2):c.11145+4A>G
|
|
|
NM_001035.3(RYR2):c.11146-8G>A
|
rs1425021300
|
|
NM_001035.3(RYR2):c.11181G>T (p.Gln3727His)
|
rs773884612
|
|
NM_001035.3(RYR2):c.11189G>A (p.Arg3730Gln)
|
rs1060500157
|
|
NM_001035.3(RYR2):c.11197G>A (p.Asp3733Asn)
|
rs760307737
|
|
NM_001035.3(RYR2):c.11210C>G (p.Ala3737Gly)
|
rs1458694641
|
|
NM_001035.3(RYR2):c.11242A>G (p.Lys3748Glu)
|
rs1692955012
|
|
NM_001035.3(RYR2):c.11288T>C (p.Ile3763Thr)
|
rs1693078772
|
|
NM_001035.3(RYR2):c.112G>A (p.Ala38Thr)
|
rs747977592
|
|
NM_001035.3(RYR2):c.11306G>T (p.Gly3769Val)
|
rs1558353446
|
|
NM_001035.3(RYR2):c.11362G>A (p.Gly3788Ser)
|
rs775471018
|
|
NM_001035.3(RYR2):c.11376C>G (p.Ser3792Arg)
|
|
|
NM_001035.3(RYR2):c.11398T>A (p.Cys3800Ser)
|
rs397516504
|
|
NM_001035.3(RYR2):c.11399G>T (p.Cys3800Phe)
|
rs1239093704
|
|
NM_001035.3(RYR2):c.11403-10_11403-8del
|
rs2149276934
|
|
NM_001035.3(RYR2):c.11440G>A (p.Ala3814Thr)
|
rs1693387167
|
|
NM_001035.3(RYR2):c.11477-8del
|
rs1694208486
|
|
NM_001035.3(RYR2):c.11491C>T (p.Gln3831Ter)
|
rs2149310533
|
|
NM_001035.3(RYR2):c.11503T>C (p.Phe3835Leu)
|
rs1694211408
|
|
NM_001035.3(RYR2):c.1152G>A (p.Met384Ile)
|
rs1707894967
|
|
NM_001035.3(RYR2):c.11557+6T>A
|
rs2149310783
|
|
NM_001035.3(RYR2):c.11558-13T>G
|
rs1694310385
|
|
NM_001035.3(RYR2):c.11646+1G>T
|
rs2149314836
|
|
NM_001035.3(RYR2):c.11674T>A (p.Tyr3892Asn)
|
rs1694429616
|
|
NM_001035.3(RYR2):c.11711G>A (p.Arg3904Gln)
|
|
|
NM_001035.3(RYR2):c.11737G>T (p.Ala3913Ser)
|
rs1212225668
|
|
NM_001035.3(RYR2):c.1177A>G (p.Met393Val)
|
rs2150165985
|
|
NM_001035.3(RYR2):c.11786C>T (p.Thr3929Ile)
|
rs1694858606
|
|
NM_001035.3(RYR2):c.11822G>C (p.Trp3941Ser)
|
rs1694860715
|
|
NM_001035.3(RYR2):c.11880+4AACT[4]
|
rs773240729
|
|
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu)
|
rs370103782
|
|
NM_001035.3(RYR2):c.11933T>A (p.Met3978Lys)
|
rs1695116818
|
|
NM_001035.3(RYR2):c.11962+4_11962+6dup
|
rs1695119532
|
|
NM_001035.3(RYR2):c.11962+9_11962+13dup
|
rs764190942
|
|
NM_001035.3(RYR2):c.11963-11T>G
|
rs790889
|
|
NM_001035.3(RYR2):c.11G>T (p.Gly4Val)
|
rs866878858
|
|
NM_001035.3(RYR2):c.12077T>G (p.Leu4026Trp)
|
rs750259830
|
|
NM_001035.3(RYR2):c.12080C>T (p.Thr4027Met)
|
|
|
NM_001035.3(RYR2):c.12085T>C (p.Ser4029Pro)
|
rs1558403952
|
|
NM_001035.3(RYR2):c.12106G>A (p.Asp4036Asn)
|
rs748216455
|
|
NM_001035.3(RYR2):c.12116G>T (p.Gly4039Val)
|
rs749706996
|
|
NM_001035.3(RYR2):c.12168G>T (p.Lys4056Asn)
|
rs1573932788
|
|
NM_001035.3(RYR2):c.12171C>G (p.His4057Gln)
|
rs1558404274
|
|
NM_001035.3(RYR2):c.12176C>T (p.Thr4059Met)
|
|
|
NM_001035.3(RYR2):c.12235G>T (p.Asp4079Tyr)
|
rs868071612
|
|
NM_001035.3(RYR2):c.12247T>C (p.Phe4083Leu)
|
rs1695338910
|
|
NM_001035.3(RYR2):c.12249C>A (p.Phe4083Leu)
|
rs371599450
|
|
NM_001035.3(RYR2):c.12250G>A (p.Val4084Ile)
|
rs1695339297
|
|
NM_001035.3(RYR2):c.12266A>C (p.Glu4089Ala)
|
|
|
NM_001035.3(RYR2):c.12327G>T (p.Met4109Ile)
|
|
|
NM_001035.3(RYR2):c.12373G>A (p.Val4125Ile)
|
rs775417996
|
|
NM_001035.3(RYR2):c.12377T>G (p.Leu4126Arg)
|
rs1695352124
|
|
NM_001035.3(RYR2):c.12392C>T (p.Pro4131Leu)
|
rs1695353131
|
|
NM_001035.3(RYR2):c.12415A>G (p.Met4139Val)
|
rs1199657338
|
|
NM_001035.3(RYR2):c.12416T>C (p.Met4139Thr)
|
|
|
NM_001035.3(RYR2):c.12430C>T (p.Arg4144Cys)
|
rs1298823746
|
|
NM_001035.3(RYR2):c.12481G>A (p.Glu4161Lys)
|
|
|
NM_001035.3(RYR2):c.12510A>T (p.Arg4170Ser)
|
rs1695363889
|
|
NM_001035.3(RYR2):c.12526G>A (p.Val4176Met)
|
rs794728828
|
|
NM_001035.3(RYR2):c.12548A>T (p.Lys4183Ile)
|
rs1695367132
|
|
NM_001035.3(RYR2):c.12572dup (p.Asn4191fs)
|
|
|
NM_001035.3(RYR2):c.12589A>G (p.Ile4197Val)
|
rs765238394
|
|
NM_001035.3(RYR2):c.125T>G (p.Phe42Cys)
|
rs1689580158
|
|
NM_001035.3(RYR2):c.12636C>A (p.Asn4212Lys)
|
|
|
NM_001035.3(RYR2):c.12637G>A (p.Glu4213Lys)
|
rs1695373966
|
|
NM_001035.3(RYR2):c.1264A>G (p.Thr422Ala)
|
rs1350054663
|
|
NM_001035.3(RYR2):c.12655G>A (p.Glu4219Lys)
|
rs1417926762
|
|
NM_001035.3(RYR2):c.12663C>G (p.Ser4221Arg)
|
rs370297602
|
|
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del)
|
rs794728838
|
|
NM_001035.3(RYR2):c.12672G>C (p.Glu4224Asp)
|
rs746898186
|
|
NM_001035.3(RYR2):c.12676C>T (p.Pro4226Ser)
|
rs1293881648
|
|
NM_001035.3(RYR2):c.12745A>T (p.Arg4249Trp)
|
rs1695385129
|
|
NM_001035.3(RYR2):c.12751A>G (p.Asn4251Asp)
|
rs764955292
|
|
NM_001035.3(RYR2):c.12767T>G (p.Met4256Arg)
|
rs530277653
|
|
NM_001035.3(RYR2):c.12778A>G (p.Ser4260Gly)
|
rs1416980159
|
|
NM_001035.3(RYR2):c.1280A>G (p.Asn427Ser)
|
rs753007912
|
|
NM_001035.3(RYR2):c.12826G>T (p.Val4276Leu)
|
rs368599791
|
|
NM_001035.3(RYR2):c.12846CTT[1] (p.Phe4284del)
|
rs1695394603
|
|
NM_001035.3(RYR2):c.12875T>C (p.Met4292Thr)
|
rs1695396981
|
|
NM_001035.3(RYR2):c.12876G>T (p.Met4292Ile)
|
rs1434067914
|
|
NM_001035.3(RYR2):c.12893T>C (p.Val4298Ala)
|
rs984942880
|
|
NM_001035.3(RYR2):c.12899G>A (p.Ser4300Asn)
|
rs998814994
|
|
NM_001035.3(RYR2):c.12901G>A (p.Val4301Ile)
|
rs772007722
|
|
NM_001035.3(RYR2):c.12922A>T (p.Ile4308Phe)
|
|
|
NM_001035.3(RYR2):c.12929G>C (p.Cys4310Ser)
|
rs1695402383
|
|
NM_001035.3(RYR2):c.12931A>C (p.Ser4311Arg)
|
rs2149355805
|
|
NM_001035.3(RYR2):c.12997A>G (p.Asn4333Asp)
|
rs371680410
|
|
NM_001035.3(RYR2):c.13003C>A (p.Pro4335Thr)
|
rs768583251
|
|
NM_001035.3(RYR2):c.1300G>A (p.Asp434Asn)
|
rs1658551806
|
|
NM_001035.3(RYR2):c.1302T>G (p.Asp434Glu)
|
rs2150216792
|
|
NM_001035.3(RYR2):c.13034A>T (p.Asp4345Val)
|
rs1695410103
|
|
NM_001035.3(RYR2):c.13044G>T (p.Glu4348Asp)
|
rs559197657
|
|
NM_001035.3(RYR2):c.13046G>A (p.Gly4349Glu)
|
rs1695410973
|
|
NM_001035.3(RYR2):c.13049A>G (p.Glu4350Gly)
|
|
|
NM_001035.3(RYR2):c.13067C>T (p.Ala4356Val)
|
rs981875785
|
|
NM_001035.3(RYR2):c.13078T>C (p.Ser4360Pro)
|
rs1420181587
|
|
NM_001035.3(RYR2):c.13078T>G (p.Ser4360Ala)
|
rs1420181587
|
|
NM_001035.3(RYR2):c.13101G>T (p.Lys4367Asn)
|
|
|
NM_001035.3(RYR2):c.13130C>T (p.Ser4377Leu)
|
rs869025514
|
|
NM_001035.3(RYR2):c.13162GGA[1] (p.Gly4389del)
|
rs1695419973
|
|
NM_001035.3(RYR2):c.13169A>G (p.Gln4390Arg)
|
rs763987225
|
|
NM_001035.3(RYR2):c.13193C>A (p.Pro4398Gln)
|
|
|
NM_001035.3(RYR2):c.13216A>C (p.Met4406Leu)
|
rs1328615953
|
|
NM_001035.3(RYR2):c.13228G>C (p.Val4410Leu)
|
|
|
NM_001035.3(RYR2):c.13229T>C (p.Val4410Ala)
|
rs748604898
|
|
NM_001035.3(RYR2):c.13255T>A (p.Phe4419Ile)
|
rs866127660
|
|
NM_001035.3(RYR2):c.13261-9T>C
|
rs766481385
|
|
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del)
|
rs869025516
|
|
NM_001035.3(RYR2):c.13325C>T (p.Ala4442Val)
|
rs1553324230
|
|
NM_001035.3(RYR2):c.13337A>G (p.Asp4446Gly)
|
rs2149367007
|
|
NM_001035.3(RYR2):c.13367A>C (p.Asp4456Ala)
|
|
|
NM_001035.3(RYR2):c.1336G>A (p.Asp446Asn)
|
rs748867973
|
|
NM_001035.3(RYR2):c.13371G>T (p.Lys4457Asn)
|
rs769311004
|
|
NM_001035.3(RYR2):c.13372G>A (p.Gly4458Ser)
|
|
|
NM_001035.3(RYR2):c.13398C>G (p.His4466Gln)
|
|
|
NM_001035.3(RYR2):c.13400C>T (p.Thr4467Ile)
|
rs933184477
|
|
NM_001035.3(RYR2):c.13401_13410dup (p.Gly4471fs)
|
rs1657872579
|
|
NM_001035.3(RYR2):c.13476+6A>T
|
rs1457866950
|
|
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)
|
rs397516510
|
|
NM_001035.3(RYR2):c.13529C>T (p.Ala4510Val)
|
rs1658373672
|
|
NM_001035.3(RYR2):c.13535C>G (p.Ala4512Gly)
|
|
|
NM_001035.3(RYR2):c.13541A>G (p.Asn4514Ser)
|
rs397516511
|
|
NM_001035.3(RYR2):c.13553T>C (p.Leu4518Pro)
|
rs1558422697
|
|
NM_001035.3(RYR2):c.13561A>G (p.Lys4521Glu)
|
|
|
NM_001035.3(RYR2):c.13563+2T>C
|
|
|
NM_001035.3(RYR2):c.13571C>T (p.Thr4524Ile)
|
|
|
NM_001035.3(RYR2):c.13573TCT[1] (p.Ser4526del)
|
rs749495172
|
|
NM_001035.3(RYR2):c.13588G>A (p.Gly4530Arg)
|
|
|
NM_001035.3(RYR2):c.13616G>C (p.Ser4539Thr)
|
|
|
NM_001035.3(RYR2):c.13627A>G (p.Lys4543Glu)
|
rs745869007
|
|
NM_001035.3(RYR2):c.13630G>A (p.Val4544Met)
|
rs1235379196
|
|
NM_001035.3(RYR2):c.13640T>C (p.Leu4547Pro)
|
rs2149381328
|
|
NM_001035.3(RYR2):c.13655A>T (p.His4552Leu)
|
rs768299786
|
|
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro)
|
rs189345192
|
|
NM_001035.3(RYR2):c.13672C>A (p.His4558Asn)
|
rs773264033
|
|
NM_001035.3(RYR2):c.13695C>A (p.Ser4565Arg)
|
|
|
NM_001035.3(RYR2):c.13702A>G (p.Met4568Val)
|
rs1658463987
|
|
NM_001035.3(RYR2):c.13717C>T (p.Arg4573Cys)
|
rs764900002
|
|
NM_001035.3(RYR2):c.13739C>T (p.Thr4580Met)
|
rs1658469199
|
|
NM_001035.3(RYR2):c.13774T>C (p.Cys4592Arg)
|
rs1193389004
|
|
NM_001035.3(RYR2):c.137T>C (p.Leu46Pro)
|
rs931490334
|
|
NM_001035.3(RYR2):c.13805G>A (p.Arg4602Gln)
|
rs1553328160
|
|
NM_001035.3(RYR2):c.13838A>C (p.Asp4613Ala)
|
|
|
NM_001035.3(RYR2):c.13850T>A (p.Ile4617Asn)
|
rs2149388189
|
|
NM_001035.3(RYR2):c.13861C>A (p.Pro4621Thr)
|
rs1573977132
|
|
NM_001035.3(RYR2):c.13897C>A (p.Leu4633Ile)
|
|
|
NM_001035.3(RYR2):c.13901T>C (p.Val4634Ala)
|
rs1384324063
|
|
NM_001035.3(RYR2):c.13903A>G (p.Ile4635Val)
|
rs1558429505
|
|
NM_001035.3(RYR2):c.13957-13C>G
|
rs1659469270
|
|
NM_001035.3(RYR2):c.1397C>G (p.Pro466Arg)
|
rs967199869
|
|
NM_001035.3(RYR2):c.13G>T (p.Gly5Cys)
|
rs2148061465
|
|
NM_001035.3(RYR2):c.14002G>C (p.Glu4668Gln)
|
|
|
NM_001035.3(RYR2):c.14003A>T (p.Glu4668Val)
|
rs1659482165
|
|
NM_001035.3(RYR2):c.14008C>T (p.Leu4670Phe)
|
rs775408548
|
|
NM_001035.3(RYR2):c.14014A>G (p.Met4672Val)
|
rs1423265074
|
|
NM_001035.3(RYR2):c.14048_14049delinsAT (p.Arg4683Asn)
|
rs1558439258
|
|
NM_001035.3(RYR2):c.14053AAG[2] (p.Lys4687del)
|
rs1245102430
|
|
NM_001035.3(RYR2):c.14062C>G (p.Pro4688Ala)
|
rs1659493419
|
|
NM_001035.3(RYR2):c.14113T>G (p.Tyr4705Asp)
|
rs1660017859
|
|
NM_001035.3(RYR2):c.14151+4A>G
|
rs2149419707
|
|
NM_001035.3(RYR2):c.14179A>T (p.Thr4727Ser)
|
rs2149437498
|
|
NM_001035.3(RYR2):c.14182A>G (p.Met4728Val)
|
rs562116040
|
|
NM_001035.3(RYR2):c.14217dup (p.Ala4740fs)
|
rs749201569
|
|
NM_001035.3(RYR2):c.14233G>A (p.Asp4745Asn)
|
rs1660618055
|
|
NM_001035.3(RYR2):c.14398G>A (p.Asp4800Asn)
|
rs1660967126
|
|
NM_001035.3(RYR2):c.14399_14401del (p.Asp4800_Thr4801delinsAla)
|
|
|
NM_001035.3(RYR2):c.14405C>T (p.Pro4802Leu)
|
rs1660968129
|
|
NM_001035.3(RYR2):c.14485G>A (p.Asp4829Asn)
|
|
|
NM_001035.3(RYR2):c.14494G>A (p.Glu4832Lys)
|
rs1443988544
|
|
NM_001035.3(RYR2):c.14563A>G (p.Ile4855Val)
|
|
|
NM_001035.3(RYR2):c.14567T>C (p.Val4856Ala)
|
rs2102825767
|
|
NM_001035.3(RYR2):c.14590+8T>A
|
rs1662158417
|
|
NM_001035.3(RYR2):c.14591-9del
|
rs876657987
|
|
NM_001035.3(RYR2):c.14593C>G (p.Leu4865Val)
|
rs1197708875
|
|
NM_001035.3(RYR2):c.14656-13C>A
|
rs1663654908
|
|
NM_001035.3(RYR2):c.14701G>A (p.Val4901Met)
|
rs2102947130
|
|
NM_001035.3(RYR2):c.1471G>A (p.Glu491Lys)
|
rs1658580412
|
|
NM_001035.3(RYR2):c.14756+3G>A
|
rs1057523295
|
|
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT
|
rs727504630
|
|
NM_001035.3(RYR2):c.14808+2T>G
|
rs1663793978
|
|
NM_001035.3(RYR2):c.14809-8T>G
|
|
|
NM_001035.3(RYR2):c.14818G>A (p.Val4940Ile)
|
rs1558506940
|
|
NM_001035.3(RYR2):c.14904_*1dup (p.Ter4968=)
|
rs777179393
|
|
NM_001035.3(RYR2):c.1501T>G (p.Cys501Gly)
|
rs969500202
|
|
NM_001035.3(RYR2):c.1510C>T (p.Arg504Cys)
|
rs373502556
|
|
NM_001035.3(RYR2):c.1514T>G (p.Leu505Trp)
|
rs1658857026
|
|
NM_001035.3(RYR2):c.1556G>C (p.Gly519Ala)
|
rs1658861680
|
|
NM_001035.3(RYR2):c.1558C>T (p.Arg520Ter)
|
rs749567039
|
|
NM_001035.3(RYR2):c.1559G>T (p.Arg520Leu)
|
rs564957172
|
|
NM_001035.3(RYR2):c.1568G>A (p.Gly523Glu)
|
rs1658865001
|
|
NM_001035.3(RYR2):c.1578G>A (p.Trp526Ter)
|
|
|
NM_001035.3(RYR2):c.1595C>T (p.Ser532Phe)
|
rs751116149
|
|
NM_001035.3(RYR2):c.1601A>G (p.Tyr534Cys)
|
rs1572409976
|
|
NM_001035.3(RYR2):c.167A>C (p.Lys56Thr)
|
rs2149347249
|
|
NM_001035.3(RYR2):c.169-2A>C
|
rs1696639875
|
|
NM_001035.3(RYR2):c.1691G>A (p.Arg564Lys)
|
rs1660408895
|
|
NM_001035.3(RYR2):c.1694T>A (p.Leu565Gln)
|
|
|
NM_001035.3(RYR2):c.1709G>C (p.Gly570Ala)
|
rs1663381527
|
|
NM_001035.3(RYR2):c.170A>G (p.Asn57Ser)
|
|
|
NM_001035.3(RYR2):c.1712T>A (p.Ile571Asn)
|
rs886046263
|
|
NM_001035.3(RYR2):c.1738G>T (p.Val580Leu)
|
rs1572569244
|
|
NM_001035.3(RYR2):c.1784A>G (p.Lys595Arg)
|
rs1370136013
|
|
NM_001035.3(RYR2):c.179C>G (p.Pro60Arg)
|
|
|
NM_001035.3(RYR2):c.1822C>G (p.His608Asp)
|
rs727504718
|
|
NM_001035.3(RYR2):c.1828-12T>G
|
rs1663578215
|
|
NM_001035.3(RYR2):c.1842G>T (p.Leu614Phe)
|
rs1227994309
|
|
NM_001035.3(RYR2):c.1844G>T (p.Cys615Phe)
|
rs748190200
|
|
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe)
|
rs794728813
|
|
NM_001035.3(RYR2):c.1867G>A (p.Val623Ile)
|
|
|
NM_001035.3(RYR2):c.1926_1927delinsAAAGA (p.Leu643delinsLysIle)
|
|
|
NM_001035.3(RYR2):c.1929A>T (p.Leu643Phe)
|
|
|
NM_001035.3(RYR2):c.1962-15C>G
|
|
|
NM_001035.3(RYR2):c.1962-2dup
|
|
|
NM_001035.3(RYR2):c.1964T>C (p.Met655Thr)
|
rs1664091907
|
|
NM_001035.3(RYR2):c.1989C>G (p.Val663=)
|
|
|
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser)
|
rs779910353
|
|
NM_001035.3(RYR2):c.2021A>G (p.Tyr674Cys)
|
|
|
NM_001035.3(RYR2):c.2038G>A (p.Asp680Asn)
|
rs794728727
|
|
NM_001035.3(RYR2):c.2041C>T (p.His681Tyr)
|
|
|
NM_001035.3(RYR2):c.2042A>G (p.His681Arg)
|
rs1344581490
|
|
NM_001035.3(RYR2):c.2057T>G (p.Val686Gly)
|
rs1664102967
|
|
NM_001035.3(RYR2):c.2069C>T (p.Ala690Val)
|
rs2150448358
|
|
NM_001035.3(RYR2):c.2075A>T (p.His692Leu)
|
|
|
NM_001035.3(RYR2):c.208G>A (p.Glu70Lys)
|
|
|
NM_001035.3(RYR2):c.2122G>A (p.Gly708Arg)
|
rs1235629482
|
|
NM_001035.3(RYR2):c.2126G>A (p.Gly709Glu)
|
rs1664109062
|
|
NM_001035.3(RYR2):c.2129G>T (p.Gly710Val)
|
rs926435910
|
|
NM_001035.3(RYR2):c.2138G>C (p.Trp713Ser)
|
rs1553473238
|
|
NM_001035.3(RYR2):c.2138G>T (p.Trp713Leu)
|
rs1553473238
|
|
NM_001035.3(RYR2):c.2161G>A (p.Asp721Asn)
|
rs867855587
|
|
NM_001035.3(RYR2):c.2203+4C>A
|
|
|
NM_001035.3(RYR2):c.2203G>C (p.Gly735Arg)
|
rs1442111387
|
|
NM_001035.3(RYR2):c.2204-12T>A
|
rs753604347
|
|
NM_001035.3(RYR2):c.2204-12T>G
|
rs753604347
|
|
NM_001035.3(RYR2):c.2213C>G (p.Ala738Gly)
|
rs758381482
|
|
NM_001035.3(RYR2):c.2213C>T (p.Ala738Val)
|
|
|
NM_001035.3(RYR2):c.223G>A (p.Val75Ile)
|
rs868504232
|
|
NM_001035.3(RYR2):c.2240A>G (p.His747Arg)
|
|
|
NM_001035.3(RYR2):c.2275T>G (p.Leu759Val)
|
rs768063536
|
|
NM_001035.3(RYR2):c.227G>A (p.Arg76Gln)
|
rs1696646305
|
|
NM_001035.3(RYR2):c.2288C>T (p.Ala763Val)
|
rs1664552898
|
|
NM_001035.3(RYR2):c.2293A>C (p.Ser765Arg)
|
rs748603282
|
|
NM_001035.3(RYR2):c.2300_2301delinsGT (p.Ser767Cys)
|
rs1553474603
|
|
NM_001035.3(RYR2):c.2302T>C (p.Phe768Leu)
|
rs751507066
|
|
NM_001035.3(RYR2):c.2353G>A (p.Asp785Asn)
|
rs774486571
|
|
NM_001035.3(RYR2):c.2397A>C (p.Lys799Asn)
|
rs1558931160
|
|
NM_001035.3(RYR2):c.2399T>C (p.Val800Ala)
|
rs794728730
|
|
NM_001035.3(RYR2):c.2401C>T (p.Arg801Cys)
|
rs940667860
|
|
NM_001035.3(RYR2):c.2431T>A (p.Phe811Ile)
|
rs1664862243
|
|
NM_001035.3(RYR2):c.2435A>C (p.Lys812Thr)
|
rs779155482
|
|
NM_001035.3(RYR2):c.2435A>G (p.Lys812Arg)
|
rs779155482
|
|
NM_001035.3(RYR2):c.2435A>T (p.Lys812Ile)
|
rs779155482
|
|
NM_001035.3(RYR2):c.2445_2446del (p.Pro816fs)
|
|
|
NM_001035.3(RYR2):c.2446C>T (p.Pro816Ser)
|
|
|
NM_001035.3(RYR2):c.2449C>A (p.Pro817Thr)
|
rs780266883
|
|
NM_001035.3(RYR2):c.2449C>G (p.Pro817Ala)
|
rs780266883
|
|
NM_001035.3(RYR2):c.2450C>T (p.Pro817Leu)
|
rs747582933
|
|
NM_001035.3(RYR2):c.2471A>T (p.Glu824Val)
|
rs1664867345
|
|
NM_001035.3(RYR2):c.2510G>C (p.Ser837Thr)
|
rs375607964
|
|
NM_001035.3(RYR2):c.2511C>A (p.Ser837Arg)
|
|
|
NM_001035.3(RYR2):c.2540C>A (p.Thr847Lys)
|
|
|
NM_001035.3(RYR2):c.2573C>A (p.Thr858Lys)
|
|
|
NM_001035.3(RYR2):c.2617G>C (p.Val873Leu)
|
rs369248015
|
|
NM_001035.3(RYR2):c.2631T>A (p.His877Gln)
|
rs1050687513
|
|
NM_001035.3(RYR2):c.2635G>C (p.Glu879Gln)
|
rs576214225
|
|
NM_001035.3(RYR2):c.2639G>T (p.Arg880Ile)
|
rs1386796924
|
|
NM_001035.3(RYR2):c.2656G>T (p.Ala886Ser)
|
rs752663219
|
|
NM_001035.3(RYR2):c.2697G>C (p.Glu899Asp)
|
rs1290085302
|
|
NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala)
|
rs754520058
|
|
NM_001035.3(RYR2):c.272G>A (p.Gly91Glu)
|
rs1696651542
|
|
NM_001035.3(RYR2):c.2761T>A (p.Phe921Ile)
|
rs372752031
|
|
NM_001035.3(RYR2):c.2785C>A (p.Arg929Ser)
|
|
|
NM_001035.3(RYR2):c.2785C>G (p.Arg929Gly)
|
rs528906699
|
|
NM_001035.3(RYR2):c.2785C>T (p.Arg929Cys)
|
|
|
NM_001035.3(RYR2):c.2833G>T (p.Ala945Ser)
|
rs755764350
|
|
NM_001035.3(RYR2):c.283G>A (p.Val95Met)
|
rs2149691920
|
|
NM_001035.3(RYR2):c.2879A>C (p.Lys960Thr)
|
rs1668036111
|
|
NM_001035.3(RYR2):c.2881G>A (p.Val961Met)
|
rs876657990
|
|
NM_001035.3(RYR2):c.2881G>T (p.Val961Leu)
|
rs876657990
|
|
NM_001035.3(RYR2):c.2890A>C (p.Met964Leu)
|
rs1362839960
|
|
NM_001035.3(RYR2):c.2906+6T>C
|
|
|
NM_001035.3(RYR2):c.2920A>T (p.Ser974Cys)
|
rs1670045546
|
|
NM_001035.3(RYR2):c.292del (p.Trp98fs)
|
rs2149691982
|
|
NM_001035.3(RYR2):c.2936C>T (p.Ala979Val)
|
|
|
NM_001035.3(RYR2):c.2938C>T (p.Pro980Ser)
|
|
|
NM_001035.3(RYR2):c.2943G>T (p.Met981Ile)
|
rs1559007743
|
|
NM_001035.3(RYR2):c.295-2A>C
|
rs2149727068
|
|
NM_001035.3(RYR2):c.295-6C>G
|
rs1700027349
|
|
NM_001035.3(RYR2):c.295-9C>A
|
|
|
NM_001035.3(RYR2):c.2969C>A (p.Pro990Gln)
|
rs912594681
|
|
NM_001035.3(RYR2):c.3023C>A (p.Ala1008Glu)
|
rs1232224119
|
|
NM_001035.3(RYR2):c.3028G>A (p.Asp1010Asn)
|
rs780949229
|
|
NM_001035.3(RYR2):c.3056G>A (p.Gly1019Asp)
|
rs768150796
|
|
NM_001035.3(RYR2):c.3056G>T (p.Gly1019Val)
|
rs768150796
|
|
NM_001035.3(RYR2):c.3063A>C (p.Gln1021His)
|
rs2148091504
|
|
NM_001035.3(RYR2):c.306G>A (p.Met102Ile)
|
rs1700029219
|
|
NM_001035.3(RYR2):c.3070G>A (p.Val1024Ile)
|
rs1291873158
|
|
NM_001035.3(RYR2):c.3086A>C (p.Asn1029Thr)
|
rs2148112396
|
|
NM_001035.3(RYR2):c.309+1G>A
|
rs2149727202
|
|
NM_001035.3(RYR2):c.309+5G>A
|
rs794728695
|
|
NM_001035.3(RYR2):c.310A>T (p.Thr104Ser)
|
rs1060500155
|
|
NM_001035.3(RYR2):c.3115G>T (p.Asp1039Tyr)
|
rs1670289173
|
|
NM_001035.3(RYR2):c.3122G>A (p.Arg1041Gln)
|
rs773781713
|
|
NM_001035.3(RYR2):c.3143A>G (p.Asp1048Gly)
|
|
|
NM_001035.3(RYR2):c.3160G>C (p.Val1054Leu)
|
rs1670294201
|
|
NM_001035.3(RYR2):c.3179A>G (p.Tyr1060Cys)
|
rs922979329
|
|
NM_001035.3(RYR2):c.3182G>A (p.Gly1061Asp)
|
rs373083911
|
|
NM_001035.3(RYR2):c.3199C>G (p.Pro1067Ala)
|
rs778889621
|
|
NM_001035.3(RYR2):c.3208G>C (p.Asp1070His)
|
rs1670298968
|
|
NM_001035.3(RYR2):c.3215-14T>G
|
rs1672104473
|
|
NM_001035.3(RYR2):c.3215-4C>G
|
|
|
NM_001035.3(RYR2):c.3217G>A (p.Ala1073Thr)
|
rs1427686482
|
|
NM_001035.3(RYR2):c.3218C>T (p.Ala1073Val)
|
rs752172893
|
|
NM_001035.3(RYR2):c.3257G>A (p.Arg1086Gln)
|
rs749566870
|
|
NM_001035.3(RYR2):c.3265C>T (p.Arg1089Cys)
|
rs879255350
|
|
NM_001035.3(RYR2):c.3277A>C (p.Thr1093Pro)
|
rs1672114573
|
|
NM_001035.3(RYR2):c.3286G>A (p.Val1096Met)
|
rs1386531236
|
|
NM_001035.3(RYR2):c.3303G>T (p.Trp1101Cys)
|
|
|
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu)
|
rs779640835
|
|
NM_001035.3(RYR2):c.3397C>G (p.Arg1133Gly)
|
rs748085424
|
|
NM_001035.3(RYR2):c.3398G>T (p.Arg1133Leu)
|
rs374397612
|
|
NM_001035.3(RYR2):c.3401C>A (p.Ala1134Asp)
|
|
|
NM_001035.3(RYR2):c.3414T>A (p.Asp1138Glu)
|
rs763881346
|
|
NM_001035.3(RYR2):c.3425C>T (p.Ala1142Val)
|
rs772148152
|
|
NM_001035.3(RYR2):c.3446A>G (p.Asn1149Ser)
|
rs1289440571
|
|
NM_001035.3(RYR2):c.3449A>T (p.Glu1150Val)
|
rs754335935
|
|
NM_001035.3(RYR2):c.346G>A (p.Gly116Arg)
|
|
|
NM_001035.3(RYR2):c.3497T>C (p.Val1166Ala)
|
|
|
NM_001035.3(RYR2):c.3565G>C (p.Glu1189Gln)
|
rs794728732
|
|
NM_001035.3(RYR2):c.356T>C (p.Ile119Thr)
|
rs1700481043
|
|
NM_001035.3(RYR2):c.3580G>C (p.Asp1194His)
|
rs1672413566
|
|
NM_001035.3(RYR2):c.3593G>A (p.Gly1198Asp)
|
rs1377831447
|
|
NM_001035.3(RYR2):c.3599-7T>A
|
rs2148430249
|
|
NM_001035.3(RYR2):c.3599-8_3599-7del
|
|
|
NM_001035.3(RYR2):c.3616A>G (p.Ser1206Gly)
|
|
|
NM_001035.3(RYR2):c.3645G>A (p.Met1215Ile)
|
rs1674954397
|
|
NM_001035.3(RYR2):c.3658G>T (p.Asp1220Tyr)
|
rs753078642
|
|
NM_001035.3(RYR2):c.3702_3710del (p.Gly1235_Glu1237del)
|
|
|
NM_001035.3(RYR2):c.3704G>A (p.Gly1235Asp)
|
rs765263326
|
|
NM_001035.3(RYR2):c.3704G>C (p.Gly1235Ala)
|
rs765263326
|
|
NM_001035.3(RYR2):c.3727A>G (p.Thr1243Ala)
|
rs2148431124
|
|
NM_001035.3(RYR2):c.3738T>A (p.Asp1246Glu)
|
rs755170090
|
|
NM_001035.3(RYR2):c.3763C>T (p.Leu1255Phe)
|
rs2148431317
|
|
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr)
|
rs769729405
|
|
NM_001035.3(RYR2):c.377G>T (p.Ser126Ile)
|
rs2149755711
|
|
NM_001035.3(RYR2):c.3785C>T (p.Pro1262Leu)
|
rs1674966868
|
|
NM_001035.3(RYR2):c.380G>C (p.Gly127Ala)
|
|
|
NM_001035.3(RYR2):c.3838T>C (p.Ser1280Pro)
|
rs1208920889
|
|
NM_001035.3(RYR2):c.3839C>G (p.Ser1280Cys)
|
rs759424061
|
|
NM_001035.3(RYR2):c.3845G>A (p.Cys1282Tyr)
|
rs1559075923
|
|
NM_001035.3(RYR2):c.3866C>A (p.Ser1289Tyr)
|
rs1675056984
|
|
NM_001035.3(RYR2):c.386A>G (p.Tyr129Cys)
|
|
|
NM_001035.3(RYR2):c.3871G>C (p.Gly1291Arg)
|
rs2148436857
|
|
NM_001035.3(RYR2):c.3875C>G (p.Ser1292Cys)
|
rs1559075982
|
|
NM_001035.3(RYR2):c.3897C>G (p.Ile1299Met)
|
rs747846327
|
|
NM_001035.3(RYR2):c.3898A>G (p.Met1300Val)
|
rs769384124
|
|
NM_001035.3(RYR2):c.3900G>A (p.Met1300Ile)
|
|
|
NM_001035.3(RYR2):c.3905A>G (p.Tyr1302Cys)
|
rs2148437157
|
|
NM_001035.3(RYR2):c.3936G>C (p.Glu1312Asp)
|
|
|
NM_001035.3(RYR2):c.3938TCT[1] (p.Phe1314del)
|
|
|
NM_001035.3(RYR2):c.3946A>G (p.Lys1316Glu)
|
rs1675067457
|
|
NM_001035.3(RYR2):c.3946_3954delinsGCGAGGA (p.Lys1316fs)
|
rs1675067718
|
|
NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala)
|
rs1553514981
|
|
NM_001035.3(RYR2):c.3952G>A (p.Val1318Met)
|
rs1675068916
|
|
NM_001035.3(RYR2):c.3968C>G (p.Pro1323Arg)
|
|
|
NM_001035.3(RYR2):c.3977G>A (p.Gly1326Asp)
|
rs1675072837
|
|
NM_001035.3(RYR2):c.3980T>C (p.Leu1327Pro)
|
rs923667966
|
|
NM_001035.3(RYR2):c.3997G>A (p.Asp1333Asn)
|
rs368281275
|
|
NM_001035.3(RYR2):c.4010ATG[1] (p.Asp1338del)
|
rs1675076853
|
|
NM_001035.3(RYR2):c.4015del (p.Ala1339fs)
|
rs1675077361
|
|
NM_001035.3(RYR2):c.4058A>G (p.His1353Arg)
|
rs1675083076
|
|
NM_001035.3(RYR2):c.4069G>A (p.Asp1357Asn)
|
rs193922626
|
|
NM_001035.3(RYR2):c.4072C>T (p.Arg1358Cys)
|
rs771593145
|
|
NM_001035.3(RYR2):c.4073G>A (p.Arg1358His)
|
rs1675084862
|
|
NM_001035.3(RYR2):c.4073G>T (p.Arg1358Leu)
|
|
|
NM_001035.3(RYR2):c.4109T>C (p.Phe1370Ser)
|
rs1675088358
|
|
NM_001035.3(RYR2):c.4130C>T (p.Ala1377Val)
|
|
|
NM_001035.3(RYR2):c.4193G>A (p.Ser1398Asn)
|
rs761006189
|
|
NM_001035.3(RYR2):c.4240C>T (p.Arg1414Trp)
|
rs868750680
|
|
NM_001035.3(RYR2):c.4246G>A (p.Asp1416Asn)
|
rs1675234680
|
|
NM_001035.3(RYR2):c.4265A>G (p.Gln1422Arg)
|
rs2148446764
|
|
NM_001035.3(RYR2):c.4276-9T>C
|
rs1559081633
|
|
NM_001035.3(RYR2):c.4286C>T (p.Ser1429Leu)
|
rs1675464523
|
|
NM_001035.3(RYR2):c.4292G>A (p.Arg1431Lys)
|
rs267598435
|
|
NM_001035.3(RYR2):c.4294A>G (p.Ile1432Val)
|
rs769163639
|
|
NM_001035.3(RYR2):c.4316C>G (p.Ala1439Gly)
|
rs1675467871
|
|
NM_001035.3(RYR2):c.4340C>T (p.Thr1447Ile)
|
rs759197026
|
|
NM_001035.3(RYR2):c.4352A>T (p.His1451Leu)
|
rs1675471793
|
|
NM_001035.3(RYR2):c.4361A>G (p.Asp1454Gly)
|
rs752212017
|
|
NM_001035.3(RYR2):c.4366G>T (p.Gly1456Cys)
|
rs1265113691
|
|
NM_001035.3(RYR2):c.4384G>A (p.Val1462Ile)
|
rs755547916
|
|
NM_001035.3(RYR2):c.4388G>A (p.Arg1463His)
|
rs753707154
|
|
NM_001035.3(RYR2):c.4396A>G (p.Thr1466Ala)
|
rs1675479559
|
|
NM_001035.3(RYR2):c.4405C>G (p.Leu1469Val)
|
rs2148458888
|
|
NM_001035.3(RYR2):c.4438A>G (p.Ile1480Val)
|
rs2148474350
|
|
NM_001035.3(RYR2):c.4448G>C (p.Ser1483Thr)
|
|
|
NM_001035.3(RYR2):c.4459A>G (p.Met1487Val)
|
rs1278512393
|
|
NM_001035.3(RYR2):c.4469C>T (p.Ala1490Val)
|
rs2148474559
|
|
NM_001035.3(RYR2):c.4480A>G (p.Met1494Val)
|
rs1675797583
|
|
NM_001035.3(RYR2):c.4487C>T (p.Pro1496Leu)
|
rs1675798798
|
|
NM_001035.3(RYR2):c.4499G>T (p.Arg1500Leu)
|
|
|
NM_001035.3(RYR2):c.4518G>T (p.Glu1506Asp)
|
|
|
NM_001035.3(RYR2):c.4531G>T (p.Val1511Leu)
|
rs1298609322
|
|
NM_001035.3(RYR2):c.4544G>T (p.Ser1515Ile)
|
|
|
NM_001035.3(RYR2):c.4546G>A (p.Gly1516Arg)
|
rs1287904079
|
|
NM_001035.3(RYR2):c.4556C>T (p.Thr1519Ile)
|
|
|
NM_001035.3(RYR2):c.4561A>G (p.Ile1521Val)
|
rs1484404966
|
|
NM_001035.3(RYR2):c.4562T>C (p.Ile1521Thr)
|
|
|
NM_001035.3(RYR2):c.4571G>A (p.Gly1524Asp)
|
rs1675809815
|
|
NM_001035.3(RYR2):c.4604C>T (p.Pro1535Leu)
|
rs973392998
|
|
NM_001035.3(RYR2):c.4607G>T (p.Ser1536Ile)
|
rs2148510905
|
|
NM_001035.3(RYR2):c.4625C>T (p.Ala1542Val)
|
|
|
NM_001035.3(RYR2):c.4634C>G (p.Ala1545Gly)
|
|
|
NM_001035.3(RYR2):c.4635A>C (p.Ala1545=)
|
rs1559095013
|
|
NM_001035.3(RYR2):c.4668G>T (p.Glu1556Asp)
|
rs370332700
|
|
NM_001035.3(RYR2):c.4684-11C>G
|
|
|
NM_001035.3(RYR2):c.4684-7C>A
|
rs563233361
|
|
NM_001035.3(RYR2):c.46A>G (p.Thr16Ala)
|
rs1660040720
|
|
NM_001035.3(RYR2):c.4718G>A (p.Ser1573Asn)
|
rs776893934
|
|
NM_001035.3(RYR2):c.4720G>A (p.Glu1574Lys)
|
rs1677761241
|
|
NM_001035.3(RYR2):c.4735G>C (p.Val1579Leu)
|
rs763389778
|
|
NM_001035.3(RYR2):c.4748C>T (p.Pro1583Leu)
|
rs1421328710
|
|
NM_001035.3(RYR2):c.4751C>T (p.Pro1584Leu)
|
rs772098320
|
|
NM_001035.3(RYR2):c.4796T>C (p.Met1599Thr)
|
rs1250300972
|
|
NM_001035.3(RYR2):c.4799C>T (p.Pro1600Leu)
|
rs759952370
|
|
NM_001035.3(RYR2):c.4801A>G (p.Asn1601Asp)
|
rs1677778043
|
|
NM_001035.3(RYR2):c.4815G>A (p.Lys1605=)
|
rs1559110544
|
|
NM_001035.3(RYR2):c.4822G>C (p.Val1608Leu)
|
rs1677780778
|
|
NM_001035.3(RYR2):c.4826C>T (p.Ser1609Phe)
|
rs1677781028
|
|
NM_001035.3(RYR2):c.4844A>G (p.Gln1615Arg)
|
rs1677783755
|
|
NM_001035.3(RYR2):c.4856T>C (p.Val1619Ala)
|
rs1559110709
|
|
NM_001035.3(RYR2):c.4879T>C (p.Phe1627Leu)
|
|
|
NM_001035.3(RYR2):c.4885T>C (p.Ser1629Pro)
|
rs1435195421
|
|
NM_001035.3(RYR2):c.4886C>A (p.Ser1629Tyr)
|
rs763623545
|
|
NM_001035.3(RYR2):c.4889T>C (p.Leu1630Pro)
|
rs1677791612
|
|
NM_001035.3(RYR2):c.4910+3C>G
|
rs757198624
|
|
NM_001035.3(RYR2):c.4910+4A>G
|
|
|
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr)
|
rs794728739
|
|
NM_001035.3(RYR2):c.4929G>T (p.Glu1643Asp)
|
rs1573122061
|
|
NM_001035.3(RYR2):c.4937A>G (p.Glu1646Gly)
|
rs1678196776
|
|
NM_001035.3(RYR2):c.4938G>C (p.Glu1646Asp)
|
rs1678197035
|
|
NM_001035.3(RYR2):c.4944G>C (p.Glu1648Asp)
|
rs1394657369
|
|
NM_001035.3(RYR2):c.4949del (p.Leu1650fs)
|
|
|
NM_001035.3(RYR2):c.4976G>A (p.Arg1659Gln)
|
rs1281673231
|
|
NM_001035.3(RYR2):c.4990G>A (p.Val1664Ile)
|
rs749434532
|
|
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe)
|
rs749434532
|
|
NM_001035.3(RYR2):c.4991T>A (p.Val1664Asp)
|
rs878854158
|
|
NM_001035.3(RYR2):c.49G>T (p.Asp17Tyr)
|
rs370488091
|
|
NM_001035.3(RYR2):c.4G>T (p.Ala2Ser)
|
rs1660032942
|
|
NM_001035.3(RYR2):c.5000T>C (p.Leu1667Pro)
|
rs1678203977
|
|
NM_001035.3(RYR2):c.5012G>A (p.Arg1671Gln)
|
rs777091366
|
|
NM_001035.3(RYR2):c.5047C>G (p.Pro1683Ala)
|
|
|
NM_001035.3(RYR2):c.5047C>T (p.Pro1683Ser)
|
rs766933683
|
|
NM_001035.3(RYR2):c.5077T>C (p.Tyr1693His)
|
rs2148594145
|
|
NM_001035.3(RYR2):c.5080A>G (p.Met1694Val)
|
rs1486465466
|
|
NM_001035.3(RYR2):c.5117T>G (p.Leu1706Arg)
|
|
|
NM_001035.3(RYR2):c.5120T>G (p.Ile1707Ser)
|
rs1678215875
|
|
NM_001035.3(RYR2):c.5125A>C (p.Ile1709Leu)
|
rs779944369
|
|
NM_001035.3(RYR2):c.5125A>G (p.Ile1709Val)
|
rs779944369
|
|
NM_001035.3(RYR2):c.5147C>T (p.Thr1716Ile)
|
|
|
NM_001035.3(RYR2):c.5154G>C (p.Arg1718Ser)
|
rs114534505
|
|
NM_001035.3(RYR2):c.5176A>G (p.Ile1726Val)
|
rs764065333
|
|
NM_001035.3(RYR2):c.5182C>G (p.Pro1728Ala)
|
rs1678223407
|
|
NM_001035.3(RYR2):c.5213T>C (p.Leu1738Pro)
|
rs1678227269
|
|
NM_001035.3(RYR2):c.5223T>G (p.Asp1741Glu)
|
rs1421320653
|
|
NM_001035.3(RYR2):c.5225A>G (p.Glu1742Gly)
|
rs751634430
|
|
NM_001035.3(RYR2):c.5279G>C (p.Arg1760Pro)
|
rs765106198
|
|
NM_001035.3(RYR2):c.5285A>C (p.Gln1762Pro)
|
rs772846797
|
|
NM_001035.3(RYR2):c.5291C>T (p.Ser1764Phe)
|
rs1678236675
|
|
NM_001035.3(RYR2):c.5299A>T (p.Ser1767Cys)
|
rs751819202
|
|
NM_001035.3(RYR2):c.5315G>T (p.Ser1772Ile)
|
rs1559116458
|
|
NM_001035.3(RYR2):c.5318A>G (p.Asn1773Ser)
|
rs1678240520
|
|
NM_001035.3(RYR2):c.5354A>G (p.Asp1785Gly)
|
|
|
NM_001035.3(RYR2):c.5407A>T (p.Ser1803Cys)
|
rs762716832
|
|
NM_001035.3(RYR2):c.5417C>T (p.Ala1806Val)
|
rs1415713582
|
|
NM_001035.3(RYR2):c.5429T>A (p.Val1810Asp)
|
rs2148596643
|
|
NM_001035.3(RYR2):c.5441C>A (p.Thr1814Asn)
|
|
|
NM_001035.3(RYR2):c.5452T>C (p.Phe1818Leu)
|
rs1678254845
|
|
NM_001035.3(RYR2):c.5480C>A (p.Thr1827Asn)
|
rs968046365
|
|
NM_001035.3(RYR2):c.5507A>G (p.Asn1836Ser)
|
rs1678261343
|
|
NM_001035.3(RYR2):c.5525T>C (p.Ile1842Thr)
|
rs1168483242
|
|
NM_001035.3(RYR2):c.5557G>A (p.Glu1853Lys)
|
rs1226782967
|
|
NM_001035.3(RYR2):c.5599G>C (p.Glu1867Gln)
|
rs565583530
|
|
NM_001035.3(RYR2):c.5600A>G (p.Glu1867Gly)
|
rs539021736
|
|
NM_001035.3(RYR2):c.5611G>T (p.Asp1871Tyr)
|
rs1678273557
|
|
NM_001035.3(RYR2):c.5617G>A (p.Ala1873Thr)
|
rs1312516879
|
|
NM_001035.3(RYR2):c.5623C>G (p.Leu1875Val)
|
rs1262621152
|
|
NM_001035.3(RYR2):c.5629G>A (p.Gly1877Arg)
|
|
|
NM_001035.3(RYR2):c.5635G>A (p.Gly1879Ser)
|
rs1678277050
|
|
NM_001035.3(RYR2):c.5648C>A (p.Ala1883Asp)
|
rs1678279011
|
|
NM_001035.3(RYR2):c.5652_5653delinsTT (p.Lys1884_Gly1885delinsAsnTrp)
|
rs2148598407
|
|
NM_001035.3(RYR2):c.5653G>T (p.Gly1885Trp)
|
rs200197527
|
|
NM_001035.3(RYR2):c.5654G>C (p.Gly1885Ala)
|
rs41315858
|
|
NM_001035.3(RYR2):c.5752G>T (p.Val1918Phe)
|
rs912197043
|
|
NM_001035.3(RYR2):c.5761C>G (p.Arg1921Gly)
|
rs760010432
|
|
NM_001035.3(RYR2):c.5771C>G (p.Ala1924Gly)
|
rs776358808
|
|
NM_001035.3(RYR2):c.5821C>T (p.Arg1941Cys)
|
rs754811291
|
|
NM_001035.3(RYR2):c.5825T>C (p.Phe1942Ser)
|
rs397516546
|
|
NM_001035.3(RYR2):c.5857A>C (p.Met1953Leu)
|
rs1057518592
|
|
NM_001035.3(RYR2):c.5905C>T (p.Pro1969Ser)
|
|
|
NM_001035.3(RYR2):c.590G>A (p.Gly197Asp)
|
rs1289234815
|
|
NM_001035.3(RYR2):c.5911G>A (p.Glu1971Lys)
|
rs1678602218
|
|
NM_001035.3(RYR2):c.5916+3A>G
|
rs1678602747
|
|
NM_001035.3(RYR2):c.5920A>C (p.Asn1974His)
|
rs1450235463
|
|
NM_001035.3(RYR2):c.5929C>A (p.Leu1977Ile)
|
rs1679353556
|
|
NM_001035.3(RYR2):c.5962T>C (p.Cys1988Arg)
|
|
|
NM_001035.3(RYR2):c.5993A>T (p.Asp1998Val)
|
|
|
NM_001035.3(RYR2):c.6005A>T (p.Asp2002Val)
|
|
|
NM_001035.3(RYR2):c.6023-14T>G
|
|
|
NM_001035.3(RYR2):c.6023-4C>G
|
rs1679570143
|
|
NM_001035.3(RYR2):c.6031C>G (p.Leu2011Val)
|
rs751426174
|
|
NM_001035.3(RYR2):c.6047C>T (p.Ser2016Phe)
|
rs1304117296
|
|
NM_001035.3(RYR2):c.6064G>T (p.Asp2022Tyr)
|
|
|
NM_001035.3(RYR2):c.6077G>C (p.Arg2026Thr)
|
|
|
NM_001035.3(RYR2):c.6090_6092delinsTTT (p.Ser2031Phe)
|
rs1679575411
|
|
NM_001035.3(RYR2):c.6109A>G (p.Thr2037Ala)
|
rs1679577488
|
|
NM_001035.3(RYR2):c.6123G>C (p.Lys2041Asn)
|
|
|
NM_001035.3(RYR2):c.6134A>G (p.Glu2045Gly)
|
rs878854160
|
|
NM_001035.3(RYR2):c.6139C>T (p.Pro2047Ser)
|
rs781756026
|
|
NM_001035.3(RYR2):c.6149G>A (p.Ser2050Asn)
|
rs1679582199
|
|
NM_001035.3(RYR2):c.6163T>C (p.Ser2055Pro)
|
rs746490469
|
|
NM_001035.3(RYR2):c.6170C>T (p.Thr2057Ile)
|
rs1679842104
|
|
NM_001035.3(RYR2):c.6211C>T (p.Gln2071Ter)
|
|
|
NM_001035.3(RYR2):c.6212A>C (p.Gln2071Pro)
|
rs1426800953
|
|
NM_001035.3(RYR2):c.6247G>A (p.Ala2083Thr)
|
rs2148666895
|
|
NM_001035.3(RYR2):c.625C>A (p.Gln209Lys)
|
rs749414350
|
|
NM_001035.3(RYR2):c.6268C>T (p.Arg2090Trp)
|
rs1284802339
|
|
NM_001035.3(RYR2):c.6295G>A (p.Val2099Ile)
|
rs767569006
|
|
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp)
|
rs753164125
|
|
NM_001035.3(RYR2):c.6307C>G (p.Pro2103Ala)
|
rs1559136427
|
|
NM_001035.3(RYR2):c.6313A>G (p.Thr2105Ala)
|
|
|
NM_001035.3(RYR2):c.6332T>C (p.Val2111Ala)
|
rs548415985
|
|
NM_001035.3(RYR2):c.638G>A (p.Ser213Asn)
|
rs1702026122
|
|
NM_001035.3(RYR2):c.639C>A (p.Ser213Arg)
|
rs375180398
|
|
NM_001035.3(RYR2):c.643G>A (p.Ala215Thr)
|
rs1278679578
|
|
NM_001035.3(RYR2):c.6458A>G (p.Lys2153Arg)
|
rs1680240587
|
|
NM_001035.3(RYR2):c.6506A>G (p.Glu2169Gly)
|
rs1064794183
|
|
NM_001035.3(RYR2):c.652A>T (p.Ser218Cys)
|
rs1702027247
|
|
NM_001035.3(RYR2):c.6620G>A (p.Ser2207Asn)
|
|
|
NM_001035.3(RYR2):c.6637G>T (p.Ala2213Ser)
|
rs1680569929
|
|
NM_001035.3(RYR2):c.6639dup (p.Met2214fs)
|
rs1680570569
|
|
NM_001035.3(RYR2):c.6640A>G (p.Met2214Val)
|
rs1680570773
|
|
NM_001035.3(RYR2):c.6656G>T (p.Ser2219Ile)
|
rs774615963
|
|
NM_001035.3(RYR2):c.6677G>A (p.Ser2226Asn)
|
rs1558104099
|
|
NM_001035.3(RYR2):c.6697G>A (p.Ala2233Thr)
|
rs1160549985
|
|
NM_001035.3(RYR2):c.6707G>T (p.Gly2236Val)
|
rs1553261760
|
|
NM_001035.3(RYR2):c.676+3A>G
|
rs1702028230
|
|
NM_001035.3(RYR2):c.677-7C>G
|
rs747407654
|
|
NM_001035.3(RYR2):c.6792+5G>A
|
rs1410840833
|
|
NM_001035.3(RYR2):c.6793-17_6793-10del
|
|
|
NM_001035.3(RYR2):c.6793-4G>T
|
rs568936247
|
|
NM_001035.3(RYR2):c.682C>T (p.Leu228Phe)
|
|
|
NM_001035.3(RYR2):c.6880G>C (p.Glu2294Gln)
|
rs1238576332
|
|
NM_001035.3(RYR2):c.6895C>G (p.Leu2299Val)
|
rs2148724365
|
|
NM_001035.3(RYR2):c.6911T>C (p.Phe2304Ser)
|
rs2148724464
|
|
NM_001035.3(RYR2):c.6929G>T (p.Gly2310Val)
|
rs1681169798
|
|
NM_001035.3(RYR2):c.6958G>A (p.Val2320Met)
|
rs1057522884
|
|
NM_001035.3(RYR2):c.6983C>T (p.Pro2328Leu)
|
rs727503401
|
|
NM_001035.3(RYR2):c.6994G>T (p.Gly2332Cys)
|
rs766508848
|
|
NM_001035.3(RYR2):c.7000G>A (p.Ala2334Thr)
|
rs1681178084
|
|
NM_001035.3(RYR2):c.7052T>C (p.Ile2351Thr)
|
rs1282045319
|
|
NM_001035.3(RYR2):c.7060G>A (p.Ala2354Thr)
|
rs773070579
|
|
NM_001035.3(RYR2):c.7084C>G (p.Pro2362Ala)
|
rs1681189802
|
|
NM_001035.3(RYR2):c.709C>G (p.Leu237Val)
|
rs1572095614
|
|
NM_001035.3(RYR2):c.7102T>G (p.Ser2368Ala)
|
rs1558117178
|
|
NM_001035.3(RYR2):c.7105A>G (p.Ser2369Gly)
|
rs1327450246
|
|
NM_001035.3(RYR2):c.710T>C (p.Leu237Pro)
|
rs1400197755
|
|
NM_001035.3(RYR2):c.7116-1G>A
|
rs2148738153
|
|
NM_001035.3(RYR2):c.7124A>G (p.Glu2375Gly)
|
rs1553264645
|
|
NM_001035.3(RYR2):c.7144A>G (p.Ile2382Val)
|
rs1179831023
|
|
NM_001035.3(RYR2):c.7147C>T (p.His2383Tyr)
|
rs2148738458
|
|
NM_001035.3(RYR2):c.7165A>C (p.Met2389Leu)
|
rs746026638
|
|
NM_001035.3(RYR2):c.71G>A (p.Cys24Tyr)
|
rs1487597802
|
|
NM_001035.3(RYR2):c.7222-15T>A
|
rs1681763241
|
|
NM_001035.3(RYR2):c.7232C>G (p.Ala2411Gly)
|
rs781674330
|
|
NM_001035.3(RYR2):c.723G>A (p.Met241Ile)
|
rs1558733902
|
|
NM_001035.3(RYR2):c.7243G>A (p.Glu2415Lys)
|
rs1573300819
|
|
NM_001035.3(RYR2):c.728A>G (p.Glu243Gly)
|
rs753663342
|
|
NM_001035.3(RYR2):c.7303G>T (p.Val2435Phe)
|
rs188835713
|
|
NM_001035.3(RYR2):c.7306A>G (p.Ile2436Val)
|
rs1681780165
|
|
NM_001035.3(RYR2):c.7306A>T (p.Ile2436Phe)
|
rs1681780165
|
|
NM_001035.3(RYR2):c.7321C>G (p.Gln2441Glu)
|
rs1681782877
|
|
NM_001035.3(RYR2):c.7336_7337delinsAG (p.Ala2446Ser)
|
rs1681784524
|
|
NM_001035.3(RYR2):c.733C>G (p.Leu245Val)
|
rs2149847911
|
|
NM_001035.3(RYR2):c.7360C>G (p.Pro2454Ala)
|
rs1682394014
|
|
NM_001035.3(RYR2):c.7360C>T (p.Pro2454Ser)
|
|
|
NM_001035.3(RYR2):c.7367T>A (p.Met2456Lys)
|
|
|
NM_001035.3(RYR2):c.7385C>A (p.Pro2462Gln)
|
rs794728757
|
|
NM_001035.3(RYR2):c.739G>A (p.Val247Ile)
|
rs1261194692
|
|
NM_001035.3(RYR2):c.7427A>G (p.Tyr2476Cys)
|
rs1573330149
|
|
NM_001035.3(RYR2):c.7457A>G (p.His2486Arg)
|
rs1682404011
|
|
NM_001035.3(RYR2):c.745T>C (p.Ser249Pro)
|
|
|
NM_001035.3(RYR2):c.7471G>T (p.Gly2491Cys)
|
|
|
NM_001035.3(RYR2):c.7489C>T (p.Arg2497Trp)
|
rs1682407283
|
|
NM_001035.3(RYR2):c.7501T>G (p.Ser2501Ala)
|
rs747787121
|
|
NM_001035.3(RYR2):c.753A>T (p.Glu251Asp)
|
rs1702095497
|
|
NM_001035.3(RYR2):c.7558C>A (p.Leu2520Ile)
|
rs1060500136
|
|
NM_001035.3(RYR2):c.755A>G (p.His252Arg)
|
rs2149848141
|
|
NM_001035.3(RYR2):c.7603T>C (p.Phe2535Leu)
|
rs2148796535
|
|
NM_001035.3(RYR2):c.7624G>A (p.Ala2542Thr)
|
rs373602064
|
|
NM_001035.3(RYR2):c.7645C>G (p.Leu2549Val)
|
rs1682569840
|
|
NM_001035.3(RYR2):c.7676G>A (p.Cys2559Tyr)
|
|
|
NM_001035.3(RYR2):c.774-9T>A
|
|
|
NM_001035.3(RYR2):c.7742G>A (p.Arg2581Lys)
|
rs1682718413
|
|
NM_001035.3(RYR2):c.7756C>G (p.Gln2586Glu)
|
rs1682720673
|
|
NM_001035.3(RYR2):c.775A>G (p.Thr259Ala)
|
rs750611654
|
|
NM_001035.3(RYR2):c.7763T>G (p.Leu2588Ter)
|
rs2148804017
|
|
NM_001035.3(RYR2):c.7774T>G (p.Leu2592Val)
|
rs761019645
|
|
NM_001035.3(RYR2):c.778G>T (p.Val260Phe)
|
rs2150028634
|
|
NM_001035.3(RYR2):c.7806_7807delinsTA (p.Ala2603Thr)
|
|
|
NM_001035.3(RYR2):c.7806_7808delinsTGA (p.Ala2603Glu)
|
rs1682725144
|
|
NM_001035.3(RYR2):c.7808C>T (p.Ala2603Val)
|
rs752607318
|
|
NM_001035.3(RYR2):c.7874G>C (p.Gly2625Ala)
|
rs1331814541
|
|
NM_001035.3(RYR2):c.7903GAA[2] (p.Glu2637del)
|
rs1217786961
|
|
NM_001035.3(RYR2):c.7909G>C (p.Glu2637Gln)
|
rs1683044275
|
|
NM_001035.3(RYR2):c.7912C>T (p.Leu2638Phe)
|
rs1447771527
|
|
NM_001035.3(RYR2):c.7948G>A (p.Asp2650Asn)
|
rs1160002244
|
|
NM_001035.3(RYR2):c.8014G>C (p.Val2672Leu)
|
rs1467546989
|
|
NM_001035.3(RYR2):c.8017G>T (p.Ala2673Ser)
|
|
|
NM_001035.3(RYR2):c.8041A>G (p.Met2681Val)
|
rs768547151
|
|
NM_001035.3(RYR2):c.8042T>C (p.Met2681Thr)
|
rs2148823470
|
|
NM_001035.3(RYR2):c.8047T>G (p.Ser2683Ala)
|
rs2148823483
|
|
NM_001035.3(RYR2):c.8113C>T (p.Pro2705Ser)
|
rs1683205763
|
|
NM_001035.3(RYR2):c.8123C>A (p.Thr2708Asn)
|
rs1683206930
|
|
NM_001035.3(RYR2):c.815G>A (p.Arg272His)
|
rs377368967
|
|
NM_001035.3(RYR2):c.8168A>G (p.Lys2723Arg)
|
|
|
NM_001035.3(RYR2):c.8179C>T (p.His2727Tyr)
|
|
|
NM_001035.3(RYR2):c.8183C>G (p.Ser2728Cys)
|
rs768193177
|
|
NM_001035.3(RYR2):c.8200A>G (p.Met2734Val)
|
rs1683418170
|
|
NM_001035.3(RYR2):c.8218G>A (p.Gly2740Arg)
|
rs1558161320
|
|
NM_001035.3(RYR2):c.8240A>T (p.Tyr2747Phe)
|
rs1558161375
|
|
NM_001035.3(RYR2):c.824G>A (p.Trp275Ter)
|
rs2150028964
|
|
NM_001035.3(RYR2):c.8262G>T (p.Gln2754His)
|
rs773748242
|
|
NM_001035.3(RYR2):c.8298+5G>C
|
|
|
NM_001035.3(RYR2):c.8298+7del
|
|
|
NM_001035.3(RYR2):c.8302A>T (p.Lys2768Ter)
|
|
|
NM_001035.3(RYR2):c.8312A>G (p.Tyr2771Cys)
|
|
|
NM_001035.3(RYR2):c.8315G>A (p.Arg2772His)
|
|
|
NM_001035.3(RYR2):c.8315G>T (p.Arg2772Leu)
|
rs922927449
|
|
NM_001035.3(RYR2):c.8317T>C (p.Trp2773Arg)
|
rs1683713927
|
|
NM_001035.3(RYR2):c.8356G>A (p.Gly2786Ser)
|
rs933570391
|
|
NM_001035.3(RYR2):c.8366T>C (p.Ile2789Thr)
|
rs1419719746
|
|
NM_001035.3(RYR2):c.8389A>G (p.Ser2797Gly)
|
|
|
NM_001035.3(RYR2):c.8405A>G (p.Asn2802Ser)
|
|
|
NM_001035.3(RYR2):c.8436G>C (p.Gln2812His)
|
rs1683728001
|
|
NM_001035.3(RYR2):c.8467C>T (p.Pro2823Ser)
|
rs2148872770
|
|
NM_001035.3(RYR2):c.8471G>A (p.Arg2824Gln)
|
|
|
NM_001035.3(RYR2):c.848+1G>C
|
rs772984053
|
|
NM_001035.3(RYR2):c.848+1del
|
|
|
NM_001035.3(RYR2):c.849-15A>C
|
|
|
NM_001035.3(RYR2):c.849-15_849-12del
|
rs1705757186
|
|
NM_001035.3(RYR2):c.8513A>T (p.His2838Leu)
|
|
|
NM_001035.3(RYR2):c.8514+1G>A
|
|
|
NM_001035.3(RYR2):c.8527A>G (p.Met2843Val)
|
rs1479028509
|
|
NM_001035.3(RYR2):c.8528T>C (p.Met2843Thr)
|
rs1259507136
|
|
NM_001035.3(RYR2):c.8542T>C (p.Tyr2848His)
|
rs1684465869
|
|
NM_001035.3(RYR2):c.854G>A (p.Ser285Asn)
|
rs1342435908
|
|
NM_001035.3(RYR2):c.8552T>C (p.Ile2851Thr)
|
|
|
NM_001035.3(RYR2):c.8562G>T (p.Lys2854Asn)
|
|
|
NM_001035.3(RYR2):c.8562del (p.Lys2856fs)
|
|
|
NM_001035.3(RYR2):c.856G>A (p.Gly286Arg)
|
rs1705760567
|
|
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del)
|
rs794728835
|
|
NM_001035.3(RYR2):c.8591-7_8591-2del
|
|
|
NM_001035.3(RYR2):c.8591G>A (p.Gly2864Glu)
|
rs1186402933
|
|
NM_001035.3(RYR2):c.8596_8598del
|
rs794728836
|
|
NM_001035.3(RYR2):c.8599A>C (p.Asn2867His)
|
rs1685187563
|
|
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser)
|
rs1031049689
|
|
NM_001035.3(RYR2):c.8620T>C (p.Tyr2874His)
|
|
|
NM_001035.3(RYR2):c.8665G>A (p.Ala2889Thr)
|
rs905023076
|
|
NM_001035.3(RYR2):c.8680A>C (p.Lys2894Gln)
|
rs2148909005
|
|
NM_001035.3(RYR2):c.8692A>G (p.Ile2898Val)
|
rs1558193694
|
|
NM_001035.3(RYR2):c.869G>T (p.Arg290Ile)
|
rs1705760982
|
|
NM_001035.3(RYR2):c.86A>G (p.His29Arg)
|
|
|
NM_001035.3(RYR2):c.8755A>G (p.Lys2919Glu)
|
|
|
NM_001035.3(RYR2):c.8759G>C (p.Arg2920Pro)
|
rs756302327
|
|
NM_001035.3(RYR2):c.8773T>G (p.Phe2925Val)
|
rs2148911735
|
|
NM_001035.3(RYR2):c.8792G>A (p.Arg2931His)
|
rs905226907
|
|
NM_001035.3(RYR2):c.8818_8819del (p.Ile2940fs)
|
rs1573467034
|
|
NM_001035.3(RYR2):c.8840G>A (p.Ser2947Asn)
|
rs1685553588
|
|
NM_001035.3(RYR2):c.8846G>T (p.Gly2949Val)
|
rs1399706297
|
|
NM_001035.3(RYR2):c.8867A>G (p.Tyr2956Cys)
|
rs1685555977
|
|
NM_001035.3(RYR2):c.8895+6G>T
|
rs1419551037
|
|
NM_001035.3(RYR2):c.8927A>G (p.Lys2976Arg)
|
rs1558206523
|
|
NM_001035.3(RYR2):c.8984A>G (p.His2995Arg)
|
rs1685783884
|
|
NM_001035.3(RYR2):c.9044T>C (p.Val3015Ala)
|
rs1686531122
|
|
NM_001035.3(RYR2):c.9046A>G (p.Arg3016Gly)
|
rs2148969159
|
|
NM_001035.3(RYR2):c.9055A>C (p.Ile3019Leu)
|
rs1686532487
|
|
NM_001035.3(RYR2):c.905C>T (p.Thr302Ile)
|
rs1705765771
|
|
NM_001035.3(RYR2):c.9068-7T>A
|
rs1687728418
|
|
NM_001035.3(RYR2):c.9080C>T (p.Thr3027Ile)
|
rs1400166034
|
|
NM_001035.3(RYR2):c.9125C>A (p.Ala3042Glu)
|
rs794728762
|
|
NM_001035.3(RYR2):c.9128+2T>C
|
|
|
NM_001035.3(RYR2):c.9166G>T (p.Ala3056Ser)
|
rs868335612
|
|
NM_001035.3(RYR2):c.9176C>G (p.Ala3059Gly)
|
rs1687852457
|
|
NM_001035.3(RYR2):c.919A>T (p.Ser307Cys)
|
rs1705767586
|
|
NM_001035.3(RYR2):c.9211A>T (p.Thr3071Ser)
|
rs1208471339
|
|
NM_001035.3(RYR2):c.9214A>G (p.Met3072Val)
|
|
|
NM_001035.3(RYR2):c.9246C>A (p.His3082Gln)
|
rs1409285303
|
|
NM_001035.3(RYR2):c.9250C>G (p.Arg3084Gly)
|
|
|
NM_001035.3(RYR2):c.9296T>C (p.Val3099Ala)
|
rs1687862870
|
|
NM_001035.3(RYR2):c.9310A>G (p.Met3104Val)
|
rs1289777181
|
|
NM_001035.3(RYR2):c.9312G>A (p.Met3104Ile)
|
rs1687864137
|
|
NM_001035.3(RYR2):c.9317_9318delinsTG (p.Ser3106Leu)
|
rs1687864745
|
|
NM_001035.3(RYR2):c.9370G>A (p.Glu3124Lys)
|
|
|
NM_001035.3(RYR2):c.9389G>A (p.Cys3130Tyr)
|
|
|
NM_001035.3(RYR2):c.9392A>G (p.Tyr3131Cys)
|
rs1342384519
|
|
NM_001035.3(RYR2):c.9405_9406delinsAG (p.Ser3136Gly)
|
|
|
NM_001035.3(RYR2):c.9406A>T (p.Ser3136Cys)
|
|
|
NM_001035.3(RYR2):c.9410T>C (p.Leu3137Ser)
|
rs1558249705
|
|
NM_001035.3(RYR2):c.9412T>C (p.Tyr3138His)
|
rs794728765
|
|
NM_001035.3(RYR2):c.9415G>T (p.Ala3139Ser)
|
|
|
NM_001035.3(RYR2):c.942_944del (p.Leu316del)
|
rs749937926
|
|
NM_001035.3(RYR2):c.9434G>T (p.Ser3145Ile)
|
rs1688011604
|
|
NM_001035.3(RYR2):c.9449+6A>G
|
rs2149038687
|
|
NM_001035.3(RYR2):c.9467G>T (p.Gly3156Val)
|
rs1688273617
|
|
NM_001035.3(RYR2):c.9487G>T (p.Ala3163Ser)
|
rs1688275641
|
|
NM_001035.3(RYR2):c.9490G>C (p.Gly3164Arg)
|
rs1558255229
|
|
NM_001035.3(RYR2):c.9503T>C (p.Val3168Ala)
|
rs771061334
|
|
NM_001035.3(RYR2):c.9526G>T (p.Asp3176Tyr)
|
rs761272070
|
|
NM_001035.3(RYR2):c.9561G>T (p.Lys3187Asn)
|
rs1060500168
|
|
NM_001035.3(RYR2):c.9581-8T>C
|
rs1558258551
|
|
NM_001035.3(RYR2):c.9587G>T (p.Ser3196Ile)
|
rs1250418772
|
|
NM_001035.3(RYR2):c.9598A>G (p.Asn3200Asp)
|
rs769276954
|
|
NM_001035.3(RYR2):c.9599A>C (p.Asn3200Thr)
|
rs1688433173
|
|
NM_001035.3(RYR2):c.9611T>C (p.Val3204Ala)
|
rs2149058128
|
|
NM_001035.3(RYR2):c.9640C>G (p.Leu3214Val)
|
rs1688436305
|
|
NM_001035.3(RYR2):c.9645G>A (p.Met3215Ile)
|
rs1688437148
|
|
NM_001035.3(RYR2):c.9671C>T (p.Ser3224Phe)
|
rs1688439810
|
|
NM_001035.3(RYR2):c.9674G>T (p.Gly3225Val)
|
rs1409242852
|
|
NM_001035.3(RYR2):c.9679C>A (p.Arg3227Ser)
|
|
|
NM_001035.3(RYR2):c.9694C>T (p.Pro3232Ser)
|
rs1688442582
|
|
NM_001035.3(RYR2):c.9698A>G (p.His3233Arg)
|
rs1386204884
|
|
NM_001035.3(RYR2):c.9703A>T (p.Met3235Leu)
|
rs773957909
|
|
NM_001035.3(RYR2):c.9705G>A (p.Met3235Ile)
|
rs1009977437
|
|
NM_001035.3(RYR2):c.9718C>T (p.Pro3240Ser)
|
|
|
NM_001035.3(RYR2):c.9745T>G (p.Trp3249Gly)
|
rs1688448137
|
|
NM_001035.3(RYR2):c.9809C>T (p.Ser3270Leu)
|
rs2149059274
|
|
NM_001035.3(RYR2):c.980C>G (p.Thr327Arg)
|
|
|
NM_001035.3(RYR2):c.9811G>A (p.Glu3271Lys)
|
rs1688453287
|
|
NM_001035.3(RYR2):c.9811G>C (p.Glu3271Gln)
|
|
|
NM_001035.3(RYR2):c.982G>T (p.Ala328Ser)
|
|
|
NM_001035.3(RYR2):c.9839T>C (p.Ile3280Thr)
|
rs778496062
|
|
NM_001035.3(RYR2):c.9887T>C (p.Met3296Thr)
|
rs876661390
|
|
NM_001035.3(RYR2):c.9967A>G (p.Met3323Val)
|
rs773288086
|
|
NM_001035.3(RYR2):c.9988G>A (p.Ala3330Thr)
|
rs1688598517
|
|
NM_001035.3(RYR2):c.998C>T (p.Ser333Phe)
|
rs397516552
|
|
NM_001103.4(ACTN2):c.1104G>A (p.Val368=)
|
rs397516563
|
|
NM_001103.4(ACTN2):c.1240G>A (p.Glu414Lys)
|
rs1558243189
|
|
NM_001103.4(ACTN2):c.1256-2A>C
|
rs1659170030
|
|
NM_001103.4(ACTN2):c.1274T>C (p.Leu425Pro)
|
rs1572137003
|
|
NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val)
|
rs566860712
|
|
NM_001103.4(ACTN2):c.1524G>T (p.Glu508Asp)
|
rs772606052
|
|
NM_001103.4(ACTN2):c.1748A>C (p.Glu583Ala)
|
rs200631005
|
|
NM_001103.4(ACTN2):c.1916G>A (p.Arg639Lys)
|
rs1659477796
|
|
NM_001103.4(ACTN2):c.2051A>T (p.Asn684Ile)
|
rs576783493
|
|
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys)
|
rs149433837
|
|
NM_001103.4(ACTN2):c.2196C>T (p.Ala732=)
|
rs1558250284
|
|
NM_001103.4(ACTN2):c.2384C>T (p.Ala795Val)
|
rs2102951500
|
|
NM_001103.4(ACTN2):c.348dup (p.Ile117fs)
|
rs1658302811
|
|
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr)
|
rs727505146
|
|
NM_001103.4(ACTN2):c.686T>G (p.Leu229Trp)
|
rs141793230
|
|
NM_001103.4(ACTN2):c.787G>A (p.Glu263Lys)
|
|
|
NM_001103.4(ACTN2):c.794C>T (p.Ala265Val)
|
rs794728965
|
|
NM_001103.4(ACTN2):c.823G>A (p.Val275Met)
|
rs2102919163
|
|
NM_001103.4(ACTN2):c.928G>A (p.Glu310Lys)
|
rs1572132678
|
|
NM_001105206.3(LAMA4):c.1140C>T (p.His380=)
|
rs782378476
|
|
NM_001105206.3(LAMA4):c.1842C>G (p.Asn614Lys)
|
rs782388698
|
|
NM_001105206.3(LAMA4):c.2687G>T (p.Gly896Val)
|
rs1779691345
|
|
NM_001105206.3(LAMA4):c.3095_3103del (p.Ser1032_Pro1034del)
|
rs1779575645
|
|
NM_001105206.3(LAMA4):c.3110+10A>C
|
rs1554332565
|
|
NM_001105206.3(LAMA4):c.3234A>G (p.Glu1078=)
|
rs1779530897
|
|
NM_001105206.3(LAMA4):c.4606G>C (p.Gly1536Arg)
|
rs1378834238
|
|
NM_001105206.3(LAMA4):c.5269C>T (p.Pro1757Ser)
|
rs782001026
|
|
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup)
|
rs397516593
|
|
NM_001134363.3(RBM20):c.1527+9G>A
|
rs1057521554
|
|
NM_001134363.3(RBM20):c.164A>G (p.Gln55Arg)
|
|
|
NM_001134363.3(RBM20):c.1745A>G (p.Asn582Ser)
|
rs890837429
|
|
NM_001134363.3(RBM20):c.1766G>A (p.Arg589Gln)
|
rs368716639
|
|
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=)
|
rs1554842673
|
|
NM_001134363.3(RBM20):c.2053_2056del (p.Glu685fs)
|
|
|
NM_001134363.3(RBM20):c.2071G>T (p.Ala691Ser)
|
rs1844782261
|
|
NM_001134363.3(RBM20):c.2362G>T (p.Ala788Ser)
|
rs765544509
|
|
NM_001134363.3(RBM20):c.2528A>G (p.Glu843Gly)
|
rs1844794265
|
|
NM_001134363.3(RBM20):c.259G>A (p.Ala87Thr)
|
|
|
NM_001134363.3(RBM20):c.2693A>G (p.Glu898Gly)
|
rs1313871510
|
|
NM_001134363.3(RBM20):c.2719G>A (p.Glu907Lys)
|
rs1564664325
|
|
NM_001134363.3(RBM20):c.3112C>A (p.His1038Asn)
|
rs891835279
|
|
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs)
|
rs727504763
|
|
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala)
|
rs969716149
|
|
NM_001134363.3(RBM20):c.3262C>T (p.Pro1088Ser)
|
rs969716149
|
|
NM_001134363.3(RBM20):c.3267del (p.Ile1090fs)
|
|
|
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs)
|
rs760334885
|
|
NM_001134363.3(RBM20):c.3304G>T (p.Val1102Leu)
|
|
|
NM_001134363.3(RBM20):c.3545G>C (p.Arg1182Pro)
|
rs563762318
|
|
NM_001134363.3(RBM20):c.3632C>T (p.Pro1211Leu)
|
rs587782973
|
|
NM_001134363.3(RBM20):c.4G>T (p.Val2Leu)
|
rs2134792471
|
|
NM_001134363.3(RBM20):c.688G>T (p.Glu230Ter)
|
rs2135042638
|
|
NM_001134363.3(RBM20):c.917G>C (p.Ser306Thr)
|
rs1844347766
|
|
NM_001134363.3(RBM20):c.928_935dup (p.Gln313fs)
|
|
|
NM_001148.6(ANK2):c.9657T>G (p.Ser3219Arg)
|
rs953435984
|
|
NM_001194.4(HCN2):c.449G>T (p.Gly150Val)
|
|
|
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del)
|
rs72554069
|
|
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup)
|
rs72554069
|
|
NM_001232.4(CASQ2):c.1195G>A (p.Glu399Lys)
|
rs1344875325
|
|
NM_001232.4(CASQ2):c.382G>A (p.Glu128Lys)
|
rs1557798151
|
|
NM_001232.4(CASQ2):c.532T>C (p.Tyr178His)
|
rs1648031031
|
|
NM_001232.4(CASQ2):c.5A>G (p.Lys2Arg)
|
rs1649207434
|
|
NM_001232.4(CASQ2):c.824A>T (p.Glu275Val)
|
rs1557789393
|
|
NM_001267550.2(TTN):c.100516A>C (p.Asn33506His)
|
rs2154137299
|
|
NM_001267550.2(TTN):c.100659C>A (p.His33553Gln)
|
rs746903660
|
|
NM_001267550.2(TTN):c.100970A>G (p.Asn33657Ser)
|
rs769340667
|
|
NM_001267550.2(TTN):c.100979A>T (p.Glu33660Val)
|
rs1309484886
|
|
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val)
|
rs773542514
|
|
NM_001267550.2(TTN):c.101680T>C (p.Phe33894Leu)
|
|
|
NM_001267550.2(TTN):c.10178C>T (p.Thr3393Ile)
|
rs752227022
|
|
NM_001267550.2(TTN):c.102772C>A (p.Pro34258Thr)
|
|
|
NM_001267550.2(TTN):c.102795TAA[1] (p.Asn34266del)
|
rs886044414
|
|
NM_001267550.2(TTN):c.102910G>A (p.Asp34304Asn)
|
|
|
NM_001267550.2(TTN):c.103043T>C (p.Leu34348Pro)
|
rs1559027230
|
|
NM_001267550.2(TTN):c.103402G>A (p.Glu34468Lys)
|
|
|
NM_001267550.2(TTN):c.104098C>T (p.Pro34700Ser)
|
rs778877604
|
|
NM_001267550.2(TTN):c.104471A>G (p.His34824Arg)
|
|
|
NM_001267550.2(TTN):c.104860C>G (p.Pro34954Ala)
|
rs1559002618
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001267550.2(TTN):c.106015del (p.Asp35339fs)
|
rs1558988204
|
|
NM_001267550.2(TTN):c.106217G>C (p.Arg35406Thr)
|
rs371304729
|
|
NM_001267550.2(TTN):c.106262dup (p.Ile35422fs)
|
rs1688557883
|
|
NM_001267550.2(TTN):c.106578_106580delinsAGT (p.Glu35527Val)
|
rs386653129
|
|
NM_001267550.2(TTN):c.106862G>C (p.Gly35621Ala)
|
|
|
NM_001267550.2(TTN):c.106990A>G (p.Ile35664Val)
|
rs781108499
|
|
NM_001267550.2(TTN):c.107004T>A (p.Ser35668Arg)
|
rs1558969757
|
|
NM_001267550.2(TTN):c.107123C>T (p.Pro35708Leu)
|
rs71423567
|
|
NM_001267550.2(TTN):c.107833T>A (p.Phe35945Ile)
|
rs1575169924
|
|
NM_001267550.2(TTN):c.11183dup (p.Leu3729fs)
|
rs778172350
|
|
NM_001267550.2(TTN):c.11717A>T (p.Tyr3906Phe)
|
rs375020177
|
|
NM_001267550.2(TTN):c.11933T>G (p.Leu3978Arg)
|
|
|
NM_001267550.2(TTN):c.12243A>T (p.Lys4081Asn)
|
rs1560916419
|
|
NM_001267550.2(TTN):c.1246G>A (p.Val416Met)
|
rs1361179427
|
|
NM_001267550.2(TTN):c.1246G>C (p.Val416Leu)
|
rs1361179427
|
|
NM_001267550.2(TTN):c.1325T>C (p.Val442Ala)
|
rs528684003
|
|
NM_001267550.2(TTN):c.1349C>T (p.Ala450Val)
|
rs727503706
|
|
NM_001267550.2(TTN):c.13719_13721del (p.Glu4575del)
|
rs1363650125
|
|
NM_001267550.2(TTN):c.13863T>A (p.Asp4621Glu)
|
rs2154317500
|
|
NM_001267550.2(TTN):c.14871C>A (p.Thr4957=)
|
rs779268926
|
|
NM_001267550.2(TTN):c.159C>T (p.Gly53=)
|
rs1367693905
|
|
NM_001267550.2(TTN):c.16273G>C (p.Gly5425Arg)
|
rs2080805633
|
|
NM_001267550.2(TTN):c.16836T>A (p.Gly5612=)
|
rs1560808278
|
|
NM_001267550.2(TTN):c.1693del (p.Ser565fs)
|
rs1085307619
|
|
NM_001267550.2(TTN):c.1771C>G (p.Gln591Glu)
|
rs747286444
|
|
NM_001267550.2(TTN):c.17740+7A>G
|
rs2080364920
|
|
NM_001267550.2(TTN):c.1785C>T (p.His595=)
|
rs1561432115
|
|
NM_001267550.2(TTN):c.18260G>A (p.Ser6087Asn)
|
|
|
NM_001267550.2(TTN):c.18309A>G (p.Glu6103=)
|
rs1560779799
|
|
NM_001267550.2(TTN):c.18413C>A (p.Ser6138Tyr)
|
rs727504477
|
|
NM_001267550.2(TTN):c.18590-9A>G
|
|
|
NM_001267550.2(TTN):c.18723C>G (p.Ser6241Arg)
|
rs1015857991
|
|
NM_001267550.2(TTN):c.19117G>A (p.Glu6373Lys)
|
rs1310419887
|
|
NM_001267550.2(TTN):c.19417A>T (p.Arg6473Ter)
|
|
|
NM_001267550.2(TTN):c.19567A>G (p.Thr6523Ala)
|
rs1560756818
|
|
NM_001267550.2(TTN):c.19744C>T (p.Arg6582Ter)
|
rs794727829
|
|
NM_001267550.2(TTN):c.200T>C (p.Ile67Thr)
|
rs952685437
|
|
NM_001267550.2(TTN):c.20148G>A (p.Met6716Ile)
|
|
|
NM_001267550.2(TTN):c.20326G>A (p.Ala6776Thr)
|
rs886055295
|
|
NM_001267550.2(TTN):c.20905T>A (p.Cys6969Ser)
|
rs368762020
|
|
NM_001267550.2(TTN):c.21103G>A (p.Val7035Ile)
|
rs1553913782
|
|
NM_001267550.2(TTN):c.21143G>T (p.Arg7048Leu)
|
rs148072021
|
|
NM_001267550.2(TTN):c.21575C>T (p.Ala7192Val)
|
rs1560705548
|
|
NM_001267550.2(TTN):c.22285G>A (p.Glu7429Lys)
|
rs1560692502
|
|
NM_001267550.2(TTN):c.22511C>T (p.Ala7504Val)
|
|
|
NM_001267550.2(TTN):c.22556_22558dup (p.Ile7519_Lys7520insIle)
|
rs2154301633
|
|
NM_001267550.2(TTN):c.22867G>A (p.Gly7623Arg)
|
rs2078297932
|
|
NM_001267550.2(TTN):c.23099-6T>C
|
rs1560672202
|
|
NM_001267550.2(TTN):c.23249_23259del (p.Ile7750fs)
|
rs2154300686
|
|
NM_001267550.2(TTN):c.23496A>C (p.Arg7832Ser)
|
rs2154300468
|
|
NM_001267550.2(TTN):c.23953C>T (p.Pro7985Ser)
|
rs2154300066
|
|
NM_001267550.2(TTN):c.24725G>A (p.Ser8242Asn)
|
|
|
NM_001267550.2(TTN):c.25087G>C (p.Ala8363Pro)
|
rs200972189
|
|
NM_001267550.2(TTN):c.25631G>C (p.Gly8544Ala)
|
rs2077603060
|
|
NM_001267550.2(TTN):c.26055C>T (p.Ser8685=)
|
rs727505250
|
|
NM_001267550.2(TTN):c.2635C>A (p.Pro879Thr)
|
rs2093003375
|
|
NM_001267550.2(TTN):c.26395G>A (p.Val8799Met)
|
rs1560601919
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[4]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26798_26799del (p.Lys8933fs)
|
rs2076941998
|
|
NM_001267550.2(TTN):c.27116C>T (p.Thr9039Ile)
|
rs1560585408
|
|
NM_001267550.2(TTN):c.27633G>C (p.Leu9211Phe)
|
rs1197586368
|
|
NM_001267550.2(TTN):c.28667C>T (p.Ala9556Val)
|
rs1060500482
|
|
NM_001267550.2(TTN):c.29590G>C (p.Glu9864Gln)
|
rs776836480
|
|
NM_001267550.2(TTN):c.29861A>T (p.Asp9954Val)
|
rs1560515818
|
|
NM_001267550.2(TTN):c.30166G>T (p.Gly10056Cys)
|
rs794729401
|
|
NM_001267550.2(TTN):c.30436G>A (p.Val10146Ile)
|
rs1553875094
|
|
NM_001267550.2(TTN):c.30485C>A (p.Thr10162Lys)
|
rs200593368
|
|
NM_001267550.2(TTN):c.31473G>A (p.Met10491Ile)
|
rs780137093
|
|
NM_001267550.2(TTN):c.31633dup (p.Ala10545fs)
|
|
|
NM_001267550.2(TTN):c.31930C>A (p.Pro10644Thr)
|
rs1213305349
|
|
NM_001267550.2(TTN):c.32197+3A>G
|
rs769891626
|
|
NM_001267550.2(TTN):c.32311G>A (p.Val10771Met)
|
rs549877654
|
|
NM_001267550.2(TTN):c.32409GAA[1] (p.Lys10805del)
|
rs1254565797
|
|
NM_001267550.2(TTN):c.32554+5_32554+6del
|
rs771419718
|
|
NM_001267550.2(TTN):c.32702A>C (p.Glu10901Ala)
|
rs2154274616
|
|
NM_001267550.2(TTN):c.32702_32703insCC (p.Glu10901fs)
|
rs2154274613
|
|
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1])
|
rs766756026
|
|
NM_001267550.2(TTN):c.33151C>T (p.Pro11051Ser)
|
rs1560337533
|
|
NM_001267550.2(TTN):c.3317G>A (p.Gly1106Asp)
|
rs2154349681
|
|
NM_001267550.2(TTN):c.33247+11_33247+14del
|
rs2154270964
|
|
NM_001267550.2(TTN):c.33418+2T>A
|
rs779749654
|
|
NM_001267550.2(TTN):c.33487G>A (p.Glu11163Lys)
|
rs1268100717
|
|
NM_001267550.2(TTN):c.33514_33516del (p.Glu11172del)
|
|
|
NM_001267550.2(TTN):c.33637AAG[2] (p.Lys11215del)
|
rs755085826
|
|
NM_001267550.2(TTN):c.33656C>T (p.Pro11219Leu)
|
rs757268986
|
|
NM_001267550.2(TTN):c.33668C>G (p.Pro11223Arg)
|
|
|
NM_001267550.2(TTN):c.33994+9A>C
|
rs2154268922
|
|
NM_001267550.2(TTN):c.34251_34276delinsG (p.Leu11418fs)
|
rs2154268608
|
|
NM_001267550.2(TTN):c.34402_34416del (p.Thr11468_Val11472del)
|
rs754236839
|
|
NM_001267550.2(TTN):c.34598T>G (p.Val11533Gly)
|
rs1560279603
|
|
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del)
|
rs763098227
|
|
NM_001267550.2(TTN):c.34953A>G (p.Lys11651=)
|
|
|
NM_001267550.2(TTN):c.34993A>T (p.Arg11665Ter)
|
|
|
NM_001267550.2(TTN):c.35040AGA[2] (p.Glu11683del)
|
rs778966063
|
|
NM_001267550.2(TTN):c.35265A>T (p.Lys11755Asn)
|
rs774526152
|
|
NM_001267550.2(TTN):c.35265del (p.Lys11755fs)
|
rs1198364572
|
|
NM_001267550.2(TTN):c.35287C>T (p.Arg11763Ter)
|
rs886044207
|
|
NM_001267550.2(TTN):c.36733C>G (p.Pro12245Ala)
|
|
|
NM_001267550.2(TTN):c.3695A>T (p.Asp1232Val)
|
rs576019235
|
|
NM_001267550.2(TTN):c.385G>A (p.Gly129Arg)
|
rs727503708
|
|
NM_001267550.2(TTN):c.38949del (p.Pro12984fs)
|
rs1560115352
|
|
NM_001267550.2(TTN):c.39052G>C (p.Ala13018Pro)
|
rs1342281244
|
|
NM_001267550.2(TTN):c.39131C>A (p.Pro13044His)
|
|
|
NM_001267550.2(TTN):c.39172G>A (p.Val13058Met)
|
|
|
NM_001267550.2(TTN):c.39250G>A (p.Val13084Met)
|
rs72650062
|
|
NM_001267550.2(TTN):c.39289C>A (p.Pro13097Thr)
|
rs370157162
|
|
NM_001267550.2(TTN):c.39301G>C (p.Glu13101Gln)
|
rs201035457
|
|
NM_001267550.2(TTN):c.39418G>T (p.Ala13140Ser)
|
rs781407045
|
|
NM_001267550.2(TTN):c.39819_39820delinsTT (p.Pro13274Ser)
|
rs727503630
|
|
NM_001267550.2(TTN):c.4057G>C (p.Val1353Leu)
|
|
|
NM_001267550.2(TTN):c.4057GTT[1] (p.Val1354del)
|
rs878854304
|
|
NM_001267550.2(TTN):c.40683T>G (p.Thr13561=)
|
rs1560021605
|
|
NM_001267550.2(TTN):c.4085A>G (p.Tyr1362Cys)
|
rs965997128
|
|
NM_001267550.2(TTN):c.42586C>T (p.His14196Tyr)
|
rs2060111509
|
|
NM_001267550.2(TTN):c.42805A>G (p.Ile14269Val)
|
rs941635511
|
|
NM_001267550.2(TTN):c.42918C>G (p.Asp14306Glu)
|
rs537375897
|
|
NM_001267550.2(TTN):c.43009del (p.His14337fs)
|
|
|
NM_001267550.2(TTN):c.4302T>C (p.Pro1434=)
|
rs1561310756
|
|
NM_001267550.2(TTN):c.4426T>C (p.Phe1476Leu)
|
rs2092383287
|
|
NM_001267550.2(TTN):c.44350G>A (p.Asp14784Asn)
|
rs72677216
|
|
NM_001267550.2(TTN):c.44424+8G>A
|
rs2154219377
|
|
NM_001267550.2(TTN):c.44425-8A>C
|
rs1576608720
|
|
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del)
|
rs727505315
|
|
NM_001267550.2(TTN):c.44504T>A (p.Leu14835Gln)
|
rs1559907686
|
|
NM_001267550.2(TTN):c.44528A>G (p.His14843Arg)
|
rs2154215596
|
|
NM_001267550.2(TTN):c.44993T>C (p.Leu14998Pro)
|
rs1553719829
|
|
NM_001267550.2(TTN):c.45083AAG[2] (p.Glu15030del)
|
|
|
NM_001267550.2(TTN):c.46328G>A (p.Ser15443Asn)
|
rs1559865685
|
|
NM_001267550.2(TTN):c.4748C>T (p.Pro1583Leu)
|
rs2092326705
|
|
NM_001267550.2(TTN):c.47919A>G (p.Glu15973=)
|
rs1207946752
|
|
NM_001267550.2(TTN):c.48316A>G (p.Met16106Val)
|
rs2154207032
|
|
NM_001267550.2(TTN):c.48685G>A (p.Val16229Met)
|
|
|
NM_001267550.2(TTN):c.48727C>A (p.Pro16243Thr)
|
rs72677242
|
|
NM_001267550.2(TTN):c.49094A>G (p.Asn16365Ser)
|
rs1424335711
|
|
NM_001267550.2(TTN):c.4960C>T (p.Pro1654Ser)
|
rs876658070
|
|
NM_001267550.2(TTN):c.49679T>C (p.Val16560Ala)
|
rs2154200776
|
|
NM_001267550.2(TTN):c.50076C>G (p.Asp16692Glu)
|
rs397517598
|
|
NM_001267550.2(TTN):c.50089G>T (p.Gly16697Cys)
|
rs1553698627
|
|
NM_001267550.2(TTN):c.50567C>A (p.Pro16856His)
|
rs2056345177
|
|
NM_001267550.2(TTN):c.50641G>A (p.Gly16881Arg)
|
rs1559780843
|
|
NM_001267550.2(TTN):c.5071G>A (p.Glu1691Lys)
|
rs1561296452
|
|
NM_001267550.2(TTN):c.51352T>C (p.Phe17118Leu)
|
rs1161061741
|
|
NM_001267550.2(TTN):c.51459T>G (p.Asp17153Glu)
|
|
|
NM_001267550.2(TTN):c.51824C>T (p.Pro17275Leu)
|
rs1559759969
|
|
NM_001267550.2(TTN):c.52174C>A (p.Pro17392Thr)
|
|
|
NM_001267550.2(TTN):c.52254G>C (p.Trp17418Cys)
|
rs536554790
|
|
NM_001267550.2(TTN):c.52886A>G (p.Tyr17629Cys)
|
|
|
NM_001267550.2(TTN):c.53204T>C (p.Leu17735Pro)
|
rs2055177287
|
|
NM_001267550.2(TTN):c.53902C>A (p.Arg17968Ser)
|
rs776785175
|
|
NM_001267550.2(TTN):c.54483A>C (p.Gln18161His)
|
rs1559711872
|
|
NM_001267550.2(TTN):c.55060G>A (p.Glu18354Lys)
|
rs1559697777
|
|
NM_001267550.2(TTN):c.5514G>C (p.Lys1838Asn)
|
rs1172907334
|
|
NM_001267550.2(TTN):c.55302+9del
|
rs1419991735
|
|
NM_001267550.2(TTN):c.5576G>C (p.Arg1859Thr)
|
rs777923620
|
|
NM_001267550.2(TTN):c.56125A>G (p.Lys18709Glu)
|
rs2052783572
|
|
NM_001267550.2(TTN):c.57847+1G>A
|
rs397517631
|
|
NM_001267550.2(TTN):c.57847+5_57847+8del
|
rs587782988
|
|
NM_001267550.2(TTN):c.57899C>A (p.Thr19300Asn)
|
rs979451740
|
|
NM_001267550.2(TTN):c.58225C>T (p.Arg19409Cys)
|
rs553606996
|
|
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val)
|
rs397517637
|
|
NM_001267550.2(TTN):c.58771G>A (p.Val19591Ile)
|
rs776808469
|
|
NM_001267550.2(TTN):c.58775C>A (p.Thr19592Asn)
|
rs745441183
|
|
NM_001267550.2(TTN):c.59032A>G (p.Ile19678Val)
|
|
|
NM_001267550.2(TTN):c.59035+6G>A
|
rs753714590
|
|
NM_001267550.2(TTN):c.59248G>T (p.Gly19750Cys)
|
rs200732032
|
|
NM_001267550.2(TTN):c.59282_59284dup (p.Asn19761_Ala19762insAsp)
|
rs1559606525
|
|
NM_001267550.2(TTN):c.59836_59837delinsAG (p.Gln19946Arg)
|
rs1559598959
|
|
NM_001267550.2(TTN):c.59927-10C>A
|
rs1559597189
|
|
NM_001267550.2(TTN):c.60109G>T (p.Val20037Phe)
|
rs749438176
|
|
NM_001267550.2(TTN):c.60455C>T (p.Thr20152Ile)
|
|
|
NM_001267550.2(TTN):c.60953T>C (p.Val20318Ala)
|
|
|
NM_001267550.2(TTN):c.61172T>A (p.Val20391Glu)
|
|
|
NM_001267550.2(TTN):c.61853T>C (p.Ile20618Thr)
|
rs901919886
|
|
NM_001267550.2(TTN):c.61997T>C (p.Ile20666Thr)
|
|
|
NM_001267550.2(TTN):c.62675G>T (p.Gly20892Val)
|
rs2154183533
|
|
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del)
|
rs727505236
|
|
NM_001267550.2(TTN):c.63096T>A (p.His21032Gln)
|
rs1559561109
|
|
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val)
|
rs370687831
|
|
NM_001267550.2(TTN):c.6332G>T (p.Trp2111Leu)
|
rs2092127553
|
|
NM_001267550.2(TTN):c.64240C>T (p.Arg21414Cys)
|
|
|
NM_001267550.2(TTN):c.64266A>C (p.Lys21422Asn)
|
rs758963173
|
|
NM_001267550.2(TTN):c.64664T>C (p.Val21555Ala)
|
|
|
NM_001267550.2(TTN):c.64757A>C (p.Glu21586Ala)
|
rs2048580704
|
|
NM_001267550.2(TTN):c.64918T>A (p.Phe21640Ile)
|
rs2154180049
|
|
NM_001267550.2(TTN):c.64972+10del
|
rs770999001
|
|
NM_001267550.2(TTN):c.6508+10A>G
|
|
|
NM_001267550.2(TTN):c.65177_65179del (p.Glu21726del)
|
|
|
NM_001267550.2(TTN):c.65666G>T (p.Gly21889Val)
|
rs188110701
|
|
NM_001267550.2(TTN):c.669+4T>C
|
rs1199005849
|
|
NM_001267550.2(TTN):c.67522T>C (p.Tyr22508His)
|
rs763377678
|
|
NM_001267550.2(TTN):c.67571G>A (p.Ser22524Asn)
|
rs397517670
|
|
NM_001267550.2(TTN):c.67591G>A (p.Glu22531Lys)
|
rs1559489746
|
|
NM_001267550.2(TTN):c.68051G>A (p.Arg22684Lys)
|
|
|
NM_001267550.2(TTN):c.6855A>C (p.Glu2285Asp)
|
rs2091955390
|
|
NM_001267550.2(TTN):c.68699C>A (p.Ala22900Asp)
|
|
|
NM_001267550.2(TTN):c.69268G>T (p.Val23090Phe)
|
rs377487375
|
|
NM_001267550.2(TTN):c.69738T>G (p.Asn23246Lys)
|
rs2154172948
|
|
NM_001267550.2(TTN):c.69976G>A (p.Glu23326Lys)
|
|
|
NM_001267550.2(TTN):c.70178_70180dup (p.Asn23393dup)
|
rs2154172646
|
|
NM_001267550.2(TTN):c.70327C>G (p.Arg23443Gly)
|
rs765987438
|
|
NM_001267550.2(TTN):c.7104T>G (p.Cys2368Trp)
|
rs1485265360
|
|
NM_001267550.2(TTN):c.71260G>A (p.Asp23754Asn)
|
rs985842925
|
|
NM_001267550.2(TTN):c.71278A>C (p.Ser23760Arg)
|
rs2154171828
|
|
NM_001267550.2(TTN):c.71455G>A (p.Val23819Ile)
|
|
|
NM_001267550.2(TTN):c.71476G>C (p.Val23826Leu)
|
rs377751708
|
|
NM_001267550.2(TTN):c.7223A>G (p.Gln2408Arg)
|
rs777244038
|
|
NM_001267550.2(TTN):c.72534A>G (p.Gln24178=)
|
|
|
NM_001267550.2(TTN):c.72965T>G (p.Phe24322Cys)
|
rs1003983177
|
|
NM_001267550.2(TTN):c.73070G>C (p.Gly24357Ala)
|
rs1559421502
|
|
NM_001267550.2(TTN):c.73663A>G (p.Ile24555Val)
|
rs1708576305
|
|
NM_001267550.2(TTN):c.73814C>T (p.Ala24605Val)
|
rs1559412630
|
|
NM_001267550.2(TTN):c.74119G>A (p.Val24707Met)
|
rs2154169785
|
|
NM_001267550.2(TTN):c.74133T>G (p.Asp24711Glu)
|
rs1708361319
|
|
NM_001267550.2(TTN):c.74741C>T (p.Thr24914Ile)
|
|
|
NM_001267550.2(TTN):c.75143T>C (p.Leu25048Ser)
|
|
|
NM_001267550.2(TTN):c.75239G>A (p.Arg25080Gln)
|
|
|
NM_001267550.2(TTN):c.752A>G (p.His251Arg)
|
rs587782983
|
|
NM_001267550.2(TTN):c.76036A>T (p.Lys25346Ter)
|
|
|
NM_001267550.2(TTN):c.76756A>G (p.Ser25586Gly)
|
rs757243379
|
|
NM_001267550.2(TTN):c.77762G>T (p.Cys25921Phe)
|
rs1242856058
|
|
NM_001267550.2(TTN):c.78068T>C (p.Ile26023Thr)
|
rs572384303
|
|
NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn)
|
rs778290450
|
|
NM_001267550.2(TTN):c.79364A>T (p.His26455Leu)
|
rs1706027095
|
|
NM_001267550.2(TTN):c.79812A>G (p.Val26604=)
|
|
|
NM_001267550.2(TTN):c.80251G>A (p.Ala26751Thr)
|
rs1559345993
|
|
NM_001267550.2(TTN):c.81036G>T (p.Lys27012Asn)
|
rs550999055
|
|
NM_001267550.2(TTN):c.81089CAA[1] (p.Thr27031del)
|
rs1163103954
|
|
NM_001267550.2(TTN):c.8108A>C (p.Lys2703Thr)
|
rs2091436696
|
|
NM_001267550.2(TTN):c.81527G>T (p.Arg27176Leu)
|
rs199726308
|
|
NM_001267550.2(TTN):c.81872A>G (p.Glu27291Gly)
|
rs1197029579
|
|
NM_001267550.2(TTN):c.82123G>A (p.Gly27375Arg)
|
|
|
NM_001267550.2(TTN):c.82537G>C (p.Gly27513Arg)
|
|
|
NM_001267550.2(TTN):c.8324_8326del (p.Ser2775_Val2776delinsPhe)
|
|
|
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile)
|
rs371788070
|
|
NM_001267550.2(TTN):c.83281G>C (p.Val27761Leu)
|
rs371788070
|
|
NM_001267550.2(TTN):c.8390T>C (p.Ile2797Thr)
|
rs1561222466
|
|
NM_001267550.2(TTN):c.84178G>A (p.Gly28060Ser)
|
rs1559303506
|
|
NM_001267550.2(TTN):c.84548G>A (p.Gly28183Glu)
|
rs1486983313
|
|
NM_001267550.2(TTN):c.84860A>T (p.Tyr28287Phe)
|
rs1559296734
|
|
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr)
|
rs397517731
|
|
NM_001267550.2(TTN):c.85121T>A (p.Val28374Asp)
|
rs777681919
|
|
NM_001267550.2(TTN):c.85871G>A (p.Arg28624His)
|
rs538641703
|
|
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del)
|
rs727504797
|
|
NM_001267550.2(TTN):c.87137T>C (p.Met29046Thr)
|
rs143975327
|
|
NM_001267550.2(TTN):c.87138G>C (p.Met29046Ile)
|
rs1559264784
|
|
NM_001267550.2(TTN):c.87139A>G (p.Lys29047Glu)
|
rs1702242672
|
|
NM_001267550.2(TTN):c.88226G>A (p.Arg29409His)
|
|
|
NM_001267550.2(TTN):c.88327C>T (p.Pro29443Ser)
|
rs1700863075
|
|
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu)
|
rs397517763
|
|
NM_001267550.2(TTN):c.88738G>C (p.Val29580Leu)
|
rs371096025
|
|
NM_001267550.2(TTN):c.88836C>A (p.Asn29612Lys)
|
rs767347782
|
|
NM_001267550.2(TTN):c.88858C>A (p.Leu29620Met)
|
rs115070904
|
|
NM_001267550.2(TTN):c.89504-2_89509del
|
|
|
NM_001267550.2(TTN):c.89844C>T (p.Gly29948=)
|
rs1700022340
|
|
NM_001267550.2(TTN):c.90290C>T (p.Ser30097Leu)
|
rs2154151386
|
|
NM_001267550.2(TTN):c.90405T>A (p.Asp30135Glu)
|
rs371945826
|
|
NM_001267550.2(TTN):c.90451C>T (p.Leu30151Phe)
|
rs750520740
|
|
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del)
|
rs748912340
|
|
NM_001267550.2(TTN):c.90834T>A (p.Ser30278Arg)
|
rs397517751
|
|
NM_001267550.2(TTN):c.9116C>A (p.Thr3039Asn)
|
rs774523194
|
|
NM_001267550.2(TTN):c.91199A>G (p.Tyr30400Cys)
|
rs376494747
|
|
NM_001267550.2(TTN):c.91400G>C (p.Arg30467Pro)
|
|
|
NM_001267550.2(TTN):c.92099T>C (p.Phe30700Ser)
|
rs746552047
|
|
NM_001267550.2(TTN):c.92191A>C (p.Ile30731Leu)
|
rs16866391
|
|
NM_001267550.2(TTN):c.92232A>G (p.Glu30744=)
|
rs1395558232
|
|
NM_001267550.2(TTN):c.92302A>G (p.Lys30768Glu)
|
|
|
NM_001267550.2(TTN):c.92350G>C (p.Gly30784Arg)
|
rs979303656
|
|
NM_001267550.2(TTN):c.93295G>A (p.Gly31099Ser)
|
rs2154147309
|
|
NM_001267550.2(TTN):c.93796A>G (p.Thr31266Ala)
|
rs1697843881
|
|
NM_001267550.2(TTN):c.93855A>T (p.Arg31285Ser)
|
rs1697824824
|
|
NM_001267550.2(TTN):c.95020G>T (p.Val31674Leu)
|
rs1559147307
|
|
NM_001267550.2(TTN):c.95029T>C (p.Phe31677Leu)
|
rs1559147244
|
|
NM_001267550.2(TTN):c.9536G>C (p.Trp3179Ser)
|
rs1561183313
|
|
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met)
|
rs727503541
|
|
NM_001267550.2(TTN):c.96235G>C (p.Asp32079His)
|
rs200540781
|
|
NM_001267550.2(TTN):c.96289A>G (p.Thr32097Ala)
|
rs1559126718
|
|
NM_001267550.2(TTN):c.96593T>C (p.Leu32198Pro)
|
rs2154143465
|
|
NM_001267550.2(TTN):c.96812A>G (p.Glu32271Gly)
|
rs1559120065
|
|
NM_001267550.2(TTN):c.9688A>G (p.Thr3230Ala)
|
rs1561180438
|
|
NM_001267550.2(TTN):c.97331G>A (p.Arg32444His)
|
rs184922462
|
|
NM_001267550.2(TTN):c.97578C>G (p.Asp32526Glu)
|
rs142907833
|
|
NM_001267550.2(TTN):c.98051G>A (p.Gly32684Asp)
|
|
|
NM_001267550.2(TTN):c.98068C>T (p.Pro32690Ser)
|
rs1161513687
|
|
NM_001267550.2(TTN):c.98201C>A (p.Pro32734Gln)
|
rs1559091870
|
|
NM_001267550.2(TTN):c.98557A>G (p.Thr32853Ala)
|
rs1693338487
|
|
NM_001267550.2(TTN):c.98893G>A (p.Asp32965Asn)
|
rs186405108
|
|
NM_001267550.2(TTN):c.99058G>A (p.Glu33020Lys)
|
|
|
NM_001267550.2(TTN):c.99080G>A (p.Gly33027Asp)
|
rs1060500594
|
|
NM_001276345.2(TNNT2):c.*2G>A
|
rs1449258380
|
|
NM_001276345.2(TNNT2):c.*3C>G
|
rs529731863
|
|
NM_001276345.2(TNNT2):c.-1C>T
|
rs776936911
|
|
NM_001276345.2(TNNT2):c.121G>A (p.Asp41Asn)
|
rs748078123
|
|
NM_001276345.2(TNNT2):c.124G>A (p.Ala42Thr)
|
rs1571649102
|
|
NM_001276345.2(TNNT2):c.148G>A (p.Glu50Lys)
|
rs1660021596
|
|
NM_001276345.2(TNNT2):c.163+4A>T
|
|
|
NM_001276345.2(TNNT2):c.163G>T (p.Glu55Ter)
|
rs730881120
|
|
NM_001276345.2(TNNT2):c.164-14C>A
|
|
|
NM_001276345.2(TNNT2):c.16G>A (p.Glu6Lys)
|
rs2102316961
|
|
NM_001276345.2(TNNT2):c.175G>A (p.Glu59Lys)
|
rs568628521
|
|
NM_001276345.2(TNNT2):c.193G>C (p.Ala65Pro)
|
rs1659919080
|
|
NM_001276345.2(TNNT2):c.194C>A (p.Ala65Asp)
|
|
|
NM_001276345.2(TNNT2):c.199+8_199+9delinsAGCAAAGGAGGCTGAAGGAAGCAAAGGAGGCTGAAGGAAGCAAAGGAGGCTGAAGGTACC
|
rs1659917504
|
|
NM_001276345.2(TNNT2):c.227del (p.Lys76fs)
|
rs34008819
|
|
NM_001276345.2(TNNT2):c.229C>A (p.Pro77Thr)
|
|
|
NM_001276345.2(TNNT2):c.233+3G>A
|
|
|
NM_001276345.2(TNNT2):c.236C>G (p.Ser79Trp)
|
rs761953142
|
|
NM_001276345.2(TNNT2):c.238T>C (p.Phe80Leu)
|
rs886039053
|
|
NM_001276345.2(TNNT2):c.244C>G (p.Pro82Ala)
|
|
|
NM_001276345.2(TNNT2):c.253G>A (p.Val85Met)
|
rs1659529300
|
|
NM_001276345.2(TNNT2):c.268C>A (p.Pro90Thr)
|
rs397516451
|
|
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser)
|
rs397516451
|
|
NM_001276345.2(TNNT2):c.271G>A (p.Asp91Asn)
|
rs1571630555
|
|
NM_001276345.2(TNNT2):c.279G>C (p.Glu93Asp)
|
rs727503514
|
|
NM_001276345.2(TNNT2):c.281G>C (p.Arg94Thr)
|
rs397516452
|
|
NM_001276345.2(TNNT2):c.282A>T (p.Arg94Ser)
|
rs397516453
|
|
NM_001276345.2(TNNT2):c.282_283del (p.Arg94fs)
|
rs1259701355
|
|
NM_001276345.2(TNNT2):c.294+5G>A
|
rs533357783
|
|
NM_001276345.2(TNNT2):c.295-1G>C
|
|
|
NM_001276345.2(TNNT2):c.295-3C>A
|
rs1659453460
|
|
NM_001276345.2(TNNT2):c.300C>G (p.Ile100Met)
|
rs1230932782
|
|
NM_001276345.2(TNNT2):c.304_305insTTC (p.His101_Arg102insLeu)
|
rs730881117
|
|
NM_001276345.2(TNNT2):c.313A>G (p.Met105Val)
|
rs397516458
|
|
NM_001276345.2(TNNT2):c.316G>A (p.Glu106Lys)
|
rs869312881
|
|
NM_001276345.2(TNNT2):c.329A>G (p.Asn110Ser)
|
rs727505027
|
|
NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr)
|
rs1553282523
|
|
NM_001276345.2(TNNT2):c.374A>T (p.Lys125Ile)
|
rs1558230900
|
|
NM_001276345.2(TNNT2):c.375del (p.Glu126fs)
|
rs560019679
|
|
NM_001276345.2(TNNT2):c.395C>A (p.Ser132Tyr)
|
rs1659426786
|
|
NM_001276345.2(TNNT2):c.406A>T (p.Arg136Trp)
|
rs786204405
|
|
NM_001276345.2(TNNT2):c.408G>C (p.Arg136Ser)
|
rs2102260528
|
|
NM_001276345.2(TNNT2):c.427G>C (p.Glu143Gln)
|
rs1316344347
|
|
NM_001276345.2(TNNT2):c.430C>T (p.Arg144Trp)
|
rs45525839
|
|
NM_001276345.2(TNNT2):c.443A>G (p.Gln148Arg)
|
rs730880232
|
|
NM_001276345.2(TNNT2):c.451del (p.Arg151fs)
|
rs730881115
|
|
NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys)
|
rs45608937
|
|
NM_001276345.2(TNNT2):c.489+5G>A
|
rs1659249392
|
|
NM_001276345.2(TNNT2):c.490-14C>G
|
|
|
NM_001276345.2(TNNT2):c.4T>C (p.Ser2Pro)
|
rs765584396
|
|
NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln)
|
rs45501500
|
|
NM_001276345.2(TNNT2):c.511G>A (p.Glu171Lys)
|
rs1659064618
|
|
NM_001276345.2(TNNT2):c.53-11_53-10del
|
rs764129741
|
|
NM_001276345.2(TNNT2):c.550AAG[2] (p.Lys186del)
|
rs1558225172
|
|
NM_001276345.2(TNNT2):c.552G>C (p.Lys184Asn)
|
rs566113559
|
|
NM_001276345.2(TNNT2):c.552G>T (p.Lys184Asn)
|
rs566113559
|
|
NM_001276345.2(TNNT2):c.564G>C (p.Leu188Phe)
|
rs201270895
|
|
NM_001276345.2(TNNT2):c.569A>G (p.Asn190Ser)
|
|
|
NM_001276345.2(TNNT2):c.572T>C (p.Met191Thr)
|
rs869025538
|
|
NM_001276345.2(TNNT2):c.584G>A (p.Gly195Glu)
|
rs1558224822
|
|
NM_001276345.2(TNNT2):c.5C>T (p.Ser2Phe)
|
rs981844273
|
|
NM_001276345.2(TNNT2):c.601-8C>A
|
rs397516475
|
|
NM_001276345.2(TNNT2):c.610-10C>T
|
rs375547142
|
|
NM_001276345.2(TNNT2):c.610-7C>A
|
rs1658744962
|
|
NM_001276345.2(TNNT2):c.611C>T (p.Thr204Ile)
|
rs2102235172
|
|
NM_001276345.2(TNNT2):c.634C>T (p.Gln212Ter)
|
|
|
NM_001276345.2(TNNT2):c.662T>G (p.Ile221Ser)
|
|
|
NM_001276345.2(TNNT2):c.679A>T (p.Lys227Ter)
|
rs397516478
|
|
NM_001276345.2(TNNT2):c.682G>C (p.Val228Leu)
|
rs397516479
|
|
NM_001276345.2(TNNT2):c.682G>T (p.Val228Leu)
|
rs397516479
|
|
NM_001276345.2(TNNT2):c.709G>C (p.Asp237His)
|
rs867035950
|
|
NM_001276345.2(TNNT2):c.719+12_719+28del
|
|
|
NM_001276345.2(TNNT2):c.719+3G>T
|
rs111451787
|
|
NM_001276345.2(TNNT2):c.719+5G>A
|
rs1658715625
|
|
NM_001276345.2(TNNT2):c.719G>A (p.Arg240Lys)
|
rs2102233852
|
|
NM_001276345.2(TNNT2):c.720-32_720-14dup
|
|
|
NM_001276345.2(TNNT2):c.720-6_720-3del
|
rs1658597866
|
|
NM_001276345.2(TNNT2):c.727G>A (p.Ala243Thr)
|
rs1658594625
|
|
NM_001276345.2(TNNT2):c.751T>C (p.Tyr251His)
|
rs1571600689
|
|
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)
|
rs369181536
|
|
NM_001276345.2(TNNT2):c.772T>C (p.Phe258Leu)
|
rs730881110
|
|
NM_001276345.2(TNNT2):c.772T>G (p.Phe258Val)
|
rs730881110
|
|
NM_001276345.2(TNNT2):c.775G>T (p.Asp259Tyr)
|
|
|
NM_001276345.2(TNNT2):c.776A>T (p.Asp259Val)
|
|
|
NM_001276345.2(TNNT2):c.782A>G (p.Gln261Arg)
|
rs2102228802
|
|
NM_001276345.2(TNNT2):c.811-13A>C
|
|
|
NM_001276345.2(TNNT2):c.811-1G>T
|
rs1658235582
|
|
NM_001276345.2(TNNT2):c.812T>G (p.Ile271Ser)
|
rs371384395
|
|
NM_001276345.2(TNNT2):c.824G>A (p.Arg275Gln)
|
rs730881125
|
|
NM_001276345.2(TNNT2):c.851+5G>A
|
rs193922620
|
|
NM_001276345.2(TNNT2):c.870G>T (p.Lys290Asn)
|
rs752111672
|
|
NM_001276345.2(TNNT2):c.98-4C>G
|
rs775895925
|
|
NM_001281740.3(FHOD3):c.1970G>A (p.Ser657Asn)
|
rs202238556
|
|
NM_001318895.3(FHL2):c.142G>A (p.Gly48Ser)
|
rs777846521
|
|
NM_001318895.3(FHL2):c.595C>A (p.Arg199Ser)
|
rs373259092
|
|
NM_001330.5(CTF1):c.377C>G (p.Ala126Gly)
|
rs1162513328
|
|
NM_001330.5(CTF1):c.503dup (p.Ala170fs)
|
rs1382940759
|
|
NM_001368067.1(LDB3):c.383A>T (p.Lys128Met)
|
rs121908339
|
|
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)
|
rs121908333
|
|
NM_001368067.1(LDB3):c.440C>T (p.Ala147Val)
|
rs281865143
|
|
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)
|
rs121908334
|
|
NM_001458.5(FLNC):c.1042C>T (p.His348Tyr)
|
rs2128934341
|
|
NM_001458.5(FLNC):c.179T>C (p.Leu60Pro)
|
|
|
NM_001458.5(FLNC):c.2084G>A (p.Arg695His)
|
rs766592492
|
|
NM_001458.5(FLNC):c.2092G>A (p.Gly698Ser)
|
rs1461903090
|
|
NM_001458.5(FLNC):c.2124C>A (p.Asp708Glu)
|
rs187481700
|
|
NM_001458.5(FLNC):c.2168A>G (p.Asp723Gly)
|
|
|
NM_001458.5(FLNC):c.244A>C (p.Met82Leu)
|
rs2128932209
|
|
NM_001458.5(FLNC):c.2641+5G>T
|
|
|
NM_001458.5(FLNC):c.271A>G (p.Asn91Asp)
|
|
|
NM_001458.5(FLNC):c.301_302delinsAA (p.Ser101Asn)
|
rs2128932233
|
|
NM_001458.5(FLNC):c.3689A>G (p.Tyr1230Cys)
|
rs863225116
|
|
NM_001458.5(FLNC):c.6129G>C (p.Lys2043Asn)
|
|
|
NM_001458.5(FLNC):c.7990+10G>A
|
rs745488329
|
|
NM_001458.5(FLNC):c.850+4T>G
|
rs368602593
|
|
NM_001458.5(FLNC):c.851-4G>A
|
rs372747855
|
|
NM_001458.5(FLNC):c.883C>G (p.Pro295Ala)
|
|
|
NM_001927.4(DES):c.-2C>T
|
|
|
NM_001927.4(DES):c.1036A>T (p.Met346Leu)
|
|
|
NM_001927.4(DES):c.1204A>T (p.Ile402Phe)
|
|
|
NM_001927.4(DES):c.1244G>A (p.Arg415Gln)
|
rs1262288015
|
|
NM_001927.4(DES):c.178T>G (p.Ser60Ala)
|
rs2125165968
|
|
NM_001927.4(DES):c.226ACC[1] (p.Thr77del)
|
|
|
NM_001927.4(DES):c.541G>C (p.Asp181His)
|
rs1297244198
|
|
NM_001927.4(DES):c.841T>A (p.Tyr281Asn)
|
|
|
NM_001927.4(DES):c.883T>C (p.Trp295Arg)
|
|
|
NM_001927.4(DES):c.976C>T (p.His326Tyr)
|
rs794728987
|
|
NM_001943.3:c.45+3_621del
|
|
|
NM_001943.4(DSG2):c.1015del
|
rs794728094
|
|
NM_001943.5(DSG2):c.*2C>G
|
|
|
NM_001943.5(DSG2):c.-11G>A
|
rs727504450
|
|
NM_001943.5(DSG2):c.-2C>T
|
rs2144276425
|
|
NM_001943.5(DSG2):c.-3G>A
|
rs896428658
|
|
NM_001943.5(DSG2):c.-41_-21del
|
rs786204286
|
|
NM_001943.5(DSG2):c.1006C>T (p.Leu336Phe)
|
rs1060502864
|
|
NM_001943.5(DSG2):c.1015-7C>G
|
rs2073193503
|
|
NM_001943.5(DSG2):c.1018G>T (p.Val340Leu)
|
rs1369312425
|
|
NM_001943.5(DSG2):c.1019T>C (p.Val340Ala)
|
rs766760971
|
|
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del)
|
rs727502987
|
|
NM_001943.5(DSG2):c.1042C>A (p.Leu348Ile)
|
rs1173281259
|
|
NM_001943.5(DSG2):c.1058T>C (p.Ile353Thr)
|
|
|
NM_001943.5(DSG2):c.1072G>C (p.Ala358Pro)
|
rs758537946
|
|
NM_001943.5(DSG2):c.107A>C (p.Lys36Thr)
|
|
|
NM_001943.5(DSG2):c.1080T>A (p.Phe360Leu)
|
|
|
NM_001943.5(DSG2):c.1088C>G (p.Ser363Trp)
|
rs751527714
|
|
NM_001943.5(DSG2):c.10A>G (p.Ser4Gly)
|
rs1415117974
|
|
NM_001943.5(DSG2):c.1114C>T (p.Pro372Ser)
|
|
|
NM_001943.5(DSG2):c.1151A>G (p.Glu384Gly)
|
rs2073195593
|
|
NM_001943.5(DSG2):c.1152A>C (p.Glu384Asp)
|
rs2073195608
|
|
NM_001943.5(DSG2):c.1154G>A (p.Gly385Asp)
|
rs727504748
|
|
NM_001943.5(DSG2):c.1173C>A (p.Ser391Arg)
|
rs763242004
|
|
NM_001943.5(DSG2):c.1220G>A (p.Gly407Asp)
|
rs2073196524
|
|
NM_001943.5(DSG2):c.1249G>A (p.Asp417Asn)
|
rs2144333116
|
|
NM_001943.5(DSG2):c.1256A>T (p.Asp419Val)
|
rs760135423
|
|
NM_001943.5(DSG2):c.1276G>A (p.Ala426Thr)
|
|
|
NM_001943.5(DSG2):c.127C>T (p.His43Tyr)
|
|
|
NM_001943.5(DSG2):c.1283A>G (p.Tyr428Cys)
|
rs2073221993
|
|
NM_001943.5(DSG2):c.1297G>T (p.Asp433Tyr)
|
rs938919152
|
|
NM_001943.5(DSG2):c.1298A>G (p.Asp433Gly)
|
|
|
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs)
|
rs775256998
|
|
NM_001943.5(DSG2):c.1355T>G (p.Leu452Arg)
|
rs763810935
|
|
NM_001943.5(DSG2):c.1381C>G (p.Gln461Glu)
|
|
|
NM_001943.5(DSG2):c.1406T>C (p.Ile469Thr)
|
rs2073223451
|
|
NM_001943.5(DSG2):c.1423+5del
|
|
|
NM_001943.5(DSG2):c.1424-8_1424-7inv
|
|
|
NM_001943.5(DSG2):c.1435A>G (p.Lys479Glu)
|
rs779432999
|
|
NM_001943.5(DSG2):c.143A>G (p.Lys48Arg)
|
rs1225118377
|
|
NM_001943.5(DSG2):c.1447G>A (p.Gly483Ser)
|
rs886053714
|
|
NM_001943.5(DSG2):c.1451C>T (p.Thr484Ile)
|
rs1003784921
|
|
NM_001943.5(DSG2):c.1460T>C (p.Ile487Thr)
|
rs776525113
|
|
NM_001943.5(DSG2):c.1475T>C (p.Ile492Thr)
|
rs2073229530
|
|
NM_001943.5(DSG2):c.1487G>A (p.Cys496Tyr)
|
rs1346150383
|
|
NM_001943.5(DSG2):c.1504C>T (p.Pro502Ser)
|
rs774495857
|
|
NM_001943.5(DSG2):c.1513A>G (p.Thr505Ala)
|
|
|
NM_001943.5(DSG2):c.1520G>C (p.Cys507Ser)
|
rs121913009
|
|
NM_001943.5(DSG2):c.1528G>A (p.Ala510Thr)
|
rs2073230343
|
|
NM_001943.5(DSG2):c.1537G>T (p.Val513Leu)
|
rs1325342385
|
|
NM_001943.5(DSG2):c.1541A>T (p.Asn514Ile)
|
rs986617814
|
|
NM_001943.5(DSG2):c.1546A>G (p.Thr516Ala)
|
|
|
NM_001943.5(DSG2):c.1553A>G (p.Glu518Gly)
|
rs2144341749
|
|
NM_001943.5(DSG2):c.1562A>T (p.Asp521Val)
|
|
|
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu)
|
rs368718022
|
|
NM_001943.5(DSG2):c.1621G>A (p.Ala541Thr)
|
|
|
NM_001943.5(DSG2):c.1639G>A (p.Ala547Thr)
|
|
|
NM_001943.5(DSG2):c.1642C>A (p.Arg548Ser)
|
|
|
NM_001943.5(DSG2):c.1658G>T (p.Ser553Ile)
|
rs1567931587
|
|
NM_001943.5(DSG2):c.1670A>C (p.Gln557Pro)
|
rs2073247474
|
|
NM_001943.5(DSG2):c.1696dup (p.Ser566fs)
|
rs2144346503
|
|
NM_001943.5(DSG2):c.1697G>A (p.Ser566Asn)
|
|
|
NM_001943.5(DSG2):c.1706A>G (p.Gln569Arg)
|
rs2073247749
|
|
NM_001943.5(DSG2):c.170C>T (p.Ala57Val)
|
rs756635006
|
|
NM_001943.5(DSG2):c.1722C>A (p.Asp574Glu)
|
rs2073247879
|
|
NM_001943.5(DSG2):c.1729G>A (p.Gly577Ser)
|
rs2073247973
|
|
NM_001943.5(DSG2):c.172C>G (p.Leu58Val)
|
rs780300040
|
|
NM_001943.5(DSG2):c.1730G>C (p.Gly577Ala)
|
rs1567931644
|
|
NM_001943.5(DSG2):c.1741C>T (p.Pro581Ser)
|
|
|
NM_001943.5(DSG2):c.1762C>G (p.Leu588Val)
|
rs1278145047
|
|
NM_001943.5(DSG2):c.1768G>C (p.Val590Leu)
|
rs2073248446
|
|
NM_001943.5(DSG2):c.1769T>A (p.Val590Asp)
|
rs2144346704
|
|
NM_001943.5(DSG2):c.1795T>C (p.Cys599Arg)
|
rs762413624
|
|
NM_001943.5(DSG2):c.1861G>A (p.Ala621Thr)
|
rs748942919
|
|
NM_001943.5(DSG2):c.1874T>C (p.Leu625Pro)
|
rs2073249656
|
|
NM_001943.5(DSG2):c.1882G>A (p.Val628Ile)
|
rs1330587476
|
|
NM_001943.5(DSG2):c.1882G>T (p.Val628Leu)
|
|
|
NM_001943.5(DSG2):c.1888C>T (p.Leu630Phe)
|
rs1260711208
|
|
NM_001943.5(DSG2):c.1894C>A (p.Leu632Met)
|
rs187508748
|
|
NM_001943.5(DSG2):c.1916del (p.Lys639fs)
|
|
|
NM_001943.5(DSG2):c.1919G>T (p.Gly640Val)
|
rs1308538646
|
|
NM_001943.5(DSG2):c.1942C>G (p.Pro648Ala)
|
rs2073265555
|
|
NM_001943.5(DSG2):c.1945G>A (p.Gly649Ser)
|
rs730880078
|
|
NM_001943.5(DSG2):c.1952T>C (p.Ile651Thr)
|
rs766353242
|
|
NM_001943.5(DSG2):c.1959G>A (p.Met653Ile)
|
rs794728088
|
|
NM_001943.5(DSG2):c.196A>G (p.Lys66Glu)
|
rs759603724
|
|
NM_001943.5(DSG2):c.1987C>T (p.Pro663Ser)
|
rs2073266441
|
|
NM_001943.5(DSG2):c.1A>C (p.Met1Leu)
|
rs2072994017
|
|
NM_001943.5(DSG2):c.1A>T (p.Met1Leu)
|
rs2072994017
|
|
NM_001943.5(DSG2):c.2000A>G (p.Lys667Arg)
|
rs2144350910
|
|
NM_001943.5(DSG2):c.2002-7C>G
|
rs1415718078
|
|
NM_001943.5(DSG2):c.2006T>A (p.Val669Glu)
|
rs1036247495
|
|
NM_001943.5(DSG2):c.2014T>C (p.Phe672Leu)
|
rs2144352923
|
|
NM_001943.5(DSG2):c.2020C>T (p.Pro674Ser)
|
rs2144352935
|
|
NM_001943.5(DSG2):c.2026G>A (p.Asp676Asn)
|
rs2073274764
|
|
NM_001943.5(DSG2):c.204T>G (p.Asn68Lys)
|
rs2144314356
|
|
NM_001943.5(DSG2):c.2059G>T (p.Val687Leu)
|
rs2073275101
|
|
NM_001943.5(DSG2):c.205C>A (p.Pro69Thr)
|
rs1568104882
|
|
NM_001943.5(DSG2):c.2063G>A (p.Gly688Glu)
|
|
|
NM_001943.5(DSG2):c.2088G>A (p.Met696Ile)
|
rs1598823943
|
|
NM_001943.5(DSG2):c.20G>C (p.Arg7Pro)
|
|
|
NM_001943.5(DSG2):c.2117A>G (p.Lys706Arg)
|
rs1244546744
|
|
NM_001943.5(DSG2):c.2140A>G (p.Met714Val)
|
rs2073276090
|
|
NM_001943.5(DSG2):c.2143G>T (p.Asp715Tyr)
|
rs2073276150
|
|
NM_001943.5(DSG2):c.2158G>T (p.Glu720Ter)
|
rs2144353262
|
|
NM_001943.5(DSG2):c.216G>T (p.Lys72Asn)
|
rs2073118602
|
|
NM_001943.5(DSG2):c.217-2A>G
|
rs2144315483
|
|
NM_001943.5(DSG2):c.217-4T>G
|
|
|
NM_001943.5(DSG2):c.2181del (p.Arg728fs)
|
|
|
NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala)
|
rs780650226
|
|
NM_001943.5(DSG2):c.2215A>C (p.Ile739Leu)
|
rs772240008
|
|
NM_001943.5(DSG2):c.2242G>A (p.Ala748Thr)
|
rs763994831
|
|
NM_001943.5(DSG2):c.2243C>T (p.Ala748Val)
|
|
|
NM_001943.5(DSG2):c.2257G>T (p.Ala753Ser)
|
rs2144353551
|
|
NM_001943.5(DSG2):c.2264_2269dup (p.Arg755_Asp756dup)
|
rs1567933186
|
|
NM_001943.5(DSG2):c.2270T>C (p.Met757Thr)
|
rs876657792
|
|
NM_001943.5(DSG2):c.2271G>A (p.Met757Ile)
|
rs2073277708
|
|
NM_001943.5(DSG2):c.2276G>C (p.Gly759Ala)
|
rs2073277829
|
|
NM_001943.5(DSG2):c.2287G>A (p.Ala763Thr)
|
rs754351622
|
|
NM_001943.5(DSG2):c.22G>A (p.Ala8Thr)
|
rs2072994295
|
|
NM_001943.5(DSG2):c.2308G>A (p.Glu770Lys)
|
|
|
NM_001943.5(DSG2):c.2343_2344insAAGA (p.Ser782fs)
|
rs1252006527
|
|
NM_001943.5(DSG2):c.2358A>C (p.Glu786Asp)
|
rs1567934256
|
|
NM_001943.5(DSG2):c.2360A>C (p.Asp787Ala)
|
rs369868954
|
|
NM_001943.5(DSG2):c.2377A>G (p.Lys793Glu)
|
rs2073300770
|
|
NM_001943.5(DSG2):c.238G>A (p.Glu80Lys)
|
rs2073123125
|
|
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)
|
rs121913010
|
|
NM_001943.5(DSG2):c.2459A>G (p.Glu820Gly)
|
|
|
NM_001943.5(DSG2):c.2467G>C (p.Asp823His)
|
rs2073302041
|
|
NM_001943.5(DSG2):c.2470C>G (p.Arg824Gly)
|
|
|
NM_001943.5(DSG2):c.2488G>T (p.Gly830Ter)
|
rs2073302369
|
|
NM_001943.5(DSG2):c.2501A>G (p.Lys834Arg)
|
rs2073302622
|
|
NM_001943.5(DSG2):c.2507T>C (p.Leu836Pro)
|
rs1425278506
|
|
NM_001943.5(DSG2):c.2509G>A (p.Ala837Thr)
|
rs2073302750
|
|
NM_001943.5(DSG2):c.250A>C (p.Lys84Gln)
|
rs2144315551
|
|
NM_001943.5(DSG2):c.2539A>G (p.Ile847Val)
|
|
|
NM_001943.5(DSG2):c.2540T>A (p.Ile847Lys)
|
|
|
NM_001943.5(DSG2):c.2570C>T (p.Pro857Leu)
|
rs2144359416
|
|
NM_001943.5(DSG2):c.2593A>C (p.Thr865Pro)
|
rs866344768
|
|
NM_001943.5(DSG2):c.2594C>T (p.Thr865Ile)
|
rs2073304199
|
|
NM_001943.5(DSG2):c.259T>C (p.Tyr87His)
|
rs2073123289
|
|
NM_001943.5(DSG2):c.261C>A (p.Tyr87Ter)
|
rs1175183896
|
|
NM_001943.5(DSG2):c.2636A>G (p.Glu879Gly)
|
|
|
NM_001943.5(DSG2):c.2640T>A (p.Asn880Lys)
|
rs2073304654
|
|
NM_001943.5(DSG2):c.2666C>T (p.Pro889Leu)
|
rs2144359792
|
|
NM_001943.5(DSG2):c.2696C>T (p.Ala899Val)
|
rs1446243136
|
|
NM_001943.5(DSG2):c.2700G>T (p.Glu900Asp)
|
rs1396387126
|
|
NM_001943.5(DSG2):c.2701A>C (p.Lys901Gln)
|
|
|
NM_001943.5(DSG2):c.2727A>C (p.Glu909Asp)
|
rs771675609
|
|
NM_001943.5(DSG2):c.2737T>A (p.Ser913Thr)
|
|
|
NM_001943.5(DSG2):c.2758G>A (p.Val920Ile)
|
rs547741894
|
|
NM_001943.5(DSG2):c.2773C>T (p.Pro925Ser)
|
rs958587739
|
|
NM_001943.5(DSG2):c.2796T>G (p.Asn932Lys)
|
rs2073307337
|
|
NM_001943.5(DSG2):c.2800A>G (p.Ile934Val)
|
rs1469730786
|
|
NM_001943.5(DSG2):c.2800A>T (p.Ile934Leu)
|
rs1469730786
|
|
NM_001943.5(DSG2):c.2817del (p.Tyr940fs)
|
rs1567934773
|
|
NM_001943.5(DSG2):c.2827G>C (p.Gly943Arg)
|
rs2073307735
|
|
NM_001943.5(DSG2):c.2857del (p.Leu953fs)
|
rs2073308127
|
|
NM_001943.5(DSG2):c.2861G>A (p.Gly954Asp)
|
rs1397270448
|
|
NM_001943.5(DSG2):c.2863C>T (p.Pro955Ser)
|
rs763151805
|
|
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs)
|
rs727502990
|
|
NM_001943.5(DSG2):c.2876A>G (p.Gln959Arg)
|
rs2073308326
|
|
NM_001943.5(DSG2):c.2877G>C (p.Gln959His)
|
|
|
NM_001943.5(DSG2):c.2879_2900delinsAGCTGAAGCAAG (p.Ser960fs)
|
rs2144360481
|
|
NM_001943.5(DSG2):c.2900T>G (p.Val967Gly)
|
rs1567934849
|
|
NM_001943.5(DSG2):c.2914T>C (p.Ser972Pro)
|
|
|
NM_001943.5(DSG2):c.2919del (p.Leu974fs)
|
rs2144360666
|
|
NM_001943.5(DSG2):c.2929C>T (p.Gln977Ter)
|
rs2073309147
|
|
NM_001943.5(DSG2):c.2935T>G (p.Tyr979Asp)
|
rs2144360697
|
|
NM_001943.5(DSG2):c.2944G>A (p.Glu982Lys)
|
rs781744343
|
|
NM_001943.5(DSG2):c.2948G>A (p.Gly983Asp)
|
rs746359987
|
|
NM_001943.5(DSG2):c.2970A>C (p.Arg990Ser)
|
rs1380500504
|
|
NM_001943.5(DSG2):c.2971G>T (p.Val991Leu)
|
|
|
NM_001943.5(DSG2):c.2974A>G (p.Ile992Val)
|
rs933743259
|
|
NM_001943.5(DSG2):c.2976A>G (p.Ile992Met)
|
rs776686758
|
|
NM_001943.5(DSG2):c.2984A>T (p.His995Leu)
|
rs1253735579
|
|
NM_001943.5(DSG2):c.299G>A (p.Gly100Asp)
|
rs1236559318
|
|
NM_001943.5(DSG2):c.303A>G (p.Ile101Met)
|
rs755433039
|
|
NM_001943.5(DSG2):c.3059A>G (p.Glu1020Gly)
|
rs1485010309
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_001943.5(DSG2):c.305T>A (p.Phe102Tyr)
|
rs2073123855
|
|
NM_001943.5(DSG2):c.3061_3062dup (p.Ser1021fs)
|
rs397516706
|
|
NM_001943.5(DSG2):c.3078C>G (p.Ser1026Arg)
|
|
|
NM_001943.5(DSG2):c.3085G>A (p.Val1029Met)
|
rs1567935080
|
|
NM_001943.5(DSG2):c.3111del (p.Asn1037fs)
|
rs1567935108
|
|
NM_001943.5(DSG2):c.314A>G (p.Asn105Ser)
|
rs2073123917
|
|
NM_001943.5(DSG2):c.3165dup (p.Thr1056fs)
|
rs2073312554
|
|
NM_001943.5(DSG2):c.3178A>G (p.Ser1060Gly)
|
rs2073312698
|
|
NM_001943.5(DSG2):c.3181T>A (p.Tyr1061Asn)
|
rs2073312753
|
|
NM_001943.5(DSG2):c.3186G>T (p.Gln1062His)
|
|
|
NM_001943.5(DSG2):c.320A>G (p.Asp107Gly)
|
rs2073123931
|
|
NM_001943.5(DSG2):c.3225_3226del (p.Ser1077fs)
|
rs2144361775
|
|
NM_001943.5(DSG2):c.3226G>T (p.Val1076Leu)
|
rs761545577
|
|
NM_001943.5(DSG2):c.3230C>T (p.Ser1077Phe)
|
rs962653351
|
|
NM_001943.5(DSG2):c.3233G>A (p.Gly1078Glu)
|
rs1064795829
|
|
NM_001943.5(DSG2):c.3233G>C (p.Gly1078Ala)
|
rs1064795829
|
|
NM_001943.5(DSG2):c.3256C>T (p.Pro1086Ser)
|
rs2073313723
|
|
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val)
|
rs200264407
|
|
NM_001943.5(DSG2):c.3281G>A (p.Gly1094Asp)
|
rs144313973
|
|
NM_001943.5(DSG2):c.3298A>G (p.Ile1100Val)
|
rs1253268725
|
|
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala)
|
rs778884735
|
|
NM_001943.5(DSG2):c.3305C>A (p.Thr1102Lys)
|
|
|
NM_001943.5(DSG2):c.3318A>C (p.Arg1106Ser)
|
rs1598827838
|
|
NM_001943.5(DSG2):c.3319_3321delinsATC (p.Val1107Ile)
|
rs2073314660
|
|
NM_001943.5(DSG2):c.3333C>G (p.Ser1111Arg)
|
rs143867223
|
|
NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter)
|
rs776078563
|
|
NM_001943.5(DSG2):c.3341A>C (p.Gln1114Pro)
|
rs2073315223
|
|
NM_001943.5(DSG2):c.3342_3344del (p.Gln1114del)
|
rs1203247330
|
|
NM_001943.5(DSG2):c.352dup (p.Asp118fs)
|
rs2073124055
|
|
NM_001943.5(DSG2):c.367C>T (p.Pro123Ser)
|
rs2073124113
|
|
NM_001943.5(DSG2):c.37C>T (p.Leu13Phe)
|
rs1276147010
|
|
NM_001943.5(DSG2):c.389A>G (p.Tyr130Cys)
|
rs1169078227
|
|
NM_001943.5(DSG2):c.38T>G (p.Leu13Arg)
|
rs1436566666
|
|
NM_001943.5(DSG2):c.403A>G (p.Arg135Gly)
|
rs2073125230
|
|
NM_001943.5(DSG2):c.404G>C (p.Arg135Thr)
|
|
|
NM_001943.5(DSG2):c.424C>A (p.Pro142Thr)
|
rs1005230453
|
|
NM_001943.5(DSG2):c.437G>A (p.Arg146His)
|
rs113451409
|
|
NM_001943.5(DSG2):c.445G>T (p.Val149Phe)
|
rs372606274
|
|
NM_001943.5(DSG2):c.45+1G>T
|
rs1568098570
|
|
NM_001943.5(DSG2):c.451G>A (p.Asp151Asn)
|
rs1598810722
|
|
NM_001943.5(DSG2):c.46-14A>G
|
|
|
NM_001943.5(DSG2):c.461A>C (p.Asp154Ala)
|
rs2073125828
|
|
NM_001943.5(DSG2):c.463A>C (p.Asn155His)
|
rs764577709
|
|
NM_001943.5(DSG2):c.46A>T (p.Ile16Phe)
|
rs376660601
|
|
NM_001943.5(DSG2):c.472G>A (p.Val158Met)
|
rs2144316316
|
|
NM_001943.5(DSG2):c.478A>G (p.Thr160Ala)
|
rs2073126133
|
|
NM_001943.5(DSG2):c.47T>C (p.Ile16Thr)
|
rs1478351535
|
|
NM_001943.5(DSG2):c.484G>T (p.Asp162Tyr)
|
|
|
NM_001943.5(DSG2):c.484del (p.Asp162fs)
|
rs1158782181
|
|
NM_001943.5(DSG2):c.496G>C (p.Gly166Arg)
|
rs2073126339
|
|
NM_001943.5(DSG2):c.507_509del (p.Glu170del)
|
|
|
NM_001943.5(DSG2):c.508G>A (p.Glu170Lys)
|
rs2144316415
|
|
NM_001943.5(DSG2):c.520G>T (p.Ala174Ser)
|
rs2073126518
|
|
NM_001943.5(DSG2):c.523+1G>A
|
rs553299589
|
|
NM_001943.5(DSG2):c.523+2dup
|
rs2073126642
|
|
NM_001943.5(DSG2):c.523+3A>G
|
rs2144316473
|
|
NM_001943.5(DSG2):c.524-4C>G
|
rs2144317633
|
|
NM_001943.5(DSG2):c.550A>G (p.Thr184Ala)
|
rs2073131261
|
|
NM_001943.5(DSG2):c.595A>G (p.Arg199Gly)
|
rs1178317800
|
|
NM_001943.5(DSG2):c.595_618del (p.Arg199_Ala206del)
|
|
|
NM_001943.5(DSG2):c.601G>A (p.Val201Ile)
|
rs184100321
|
|
NM_001943.5(DSG2):c.605C>A (p.Ser202Tyr)
|
rs2073131985
|
|
NM_001943.5(DSG2):c.614C>T (p.Pro205Leu)
|
rs760896926
|
|
NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer)
|
rs1555671331
|
|
NM_001943.5(DSG2):c.649dup (p.Thr217fs)
|
rs1598811394
|
|
NM_001943.5(DSG2):c.650C>G (p.Thr217Arg)
|
|
|
NM_001943.5(DSG2):c.650C>T (p.Thr217Ile)
|
rs776720174
|
|
NM_001943.5(DSG2):c.665C>T (p.Thr222Ile)
|
rs2073132907
|
|
NM_001943.5(DSG2):c.677C>G (p.Thr226Ser)
|
|
|
NM_001943.5(DSG2):c.688G>A (p.Glu230Lys)
|
|
|
NM_001943.5(DSG2):c.691-5T>A
|
|
|
NM_001943.5(DSG2):c.697A>C (p.Ser233Arg)
|
rs2073148481
|
|
NM_001943.5(DSG2):c.710T>C (p.Leu237Ser)
|
rs1299782741
|
|
NM_001943.5(DSG2):c.719A>C (p.Glu240Ala)
|
rs2073148766
|
|
NM_001943.5(DSG2):c.748G>T (p.Asp250Tyr)
|
rs1459918321
|
|
NM_001943.5(DSG2):c.755C>T (p.Pro252Leu)
|
rs956696163
|
|
NM_001943.5(DSG2):c.781C>T (p.Arg261Cys)
|
rs146194893
|
|
NM_001943.5(DSG2):c.78dup (p.Gln27fs)
|
|
|
NM_001943.5(DSG2):c.803A>T (p.Asn268Ile)
|
rs942590973
|
|
NM_001943.5(DSG2):c.808C>A (p.Pro270Thr)
|
|
|
NM_001943.5(DSG2):c.813delinsCATT (p.Val271_Val272insIle)
|
rs2073149797
|
|
NM_001943.5(DSG2):c.82-2A>G
|
rs2073116488
|
|
NM_001943.5(DSG2):c.828_828+2del
|
rs786204292
|
|
NM_001943.5(DSG2):c.829-12C>A
|
|
|
NM_001943.5(DSG2):c.829-15G>C
|
rs2144322515
|
|
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del)
|
rs794728093
|
|
NM_001943.5(DSG2):c.838A>C (p.Met280Leu)
|
rs2073150960
|
|
NM_001943.5(DSG2):c.838A>G (p.Met280Val)
|
|
|
NM_001943.5(DSG2):c.841G>A (p.Val281Ile)
|
rs201005720
|
|
NM_001943.5(DSG2):c.853C>G (p.Gln285Glu)
|
rs781415014
|
|
NM_001943.5(DSG2):c.861_862delinsTC (p.Val288Leu)
|
rs2144322697
|
|
NM_001943.5(DSG2):c.861_863delinsTGG (p.Val288Gly)
|
rs2073151440
|
|
NM_001943.5(DSG2):c.862G>C (p.Val288Leu)
|
rs780374242
|
|
NM_001943.5(DSG2):c.867A>T (p.Glu289Asp)
|
rs2144322724
|
|
NM_001943.5(DSG2):c.875G>A (p.Arg292His)
|
rs185821167
|
|
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu)
|
rs2230234
|
|
NM_001943.5(DSG2):c.890A>T (p.Asp297Val)
|
rs1418275138
|
|
NM_001943.5(DSG2):c.893C>G (p.Ala298Gly)
|
rs1356039985
|
|
NM_001943.5(DSG2):c.905G>A (p.Gly302Asp)
|
rs1338174918
|
|
NM_001943.5(DSG2):c.90C>G (p.Ser30Arg)
|
rs2144313897
|
|
NM_001943.5(DSG2):c.913A>G (p.Asn305Asp)
|
rs2073152795
|
|
NM_001943.5(DSG2):c.914A>G (p.Asn305Ser)
|
rs2073152820
|
|
NM_001943.5(DSG2):c.988A>G (p.Asn330Asp)
|
rs1410479706
|
|
NM_002230.4(JUP):c.1212C>T (p.Asp404=)
|
rs1482026041
|
|
NM_002230.4(JUP):c.1497+8T>C
|
rs1555601979
|
|
NM_002230.4(JUP):c.1497G>C (p.Lys499Asn)
|
rs1555601984
|
|
NM_002230.4(JUP):c.1915G>A (p.Glu639Lys)
|
|
|
NM_002230.4(JUP):c.509C>G (p.Ser170Trp)
|
rs782284038
|
|
NM_002230.4(JUP):c.532G>A (p.Ala178Thr)
|
|
|
NM_002230.4(JUP):c.707+5C>T
|
rs375580484
|
|
NM_002230.4(JUP):c.708-10A>C
|
|
|
NM_002230.4(JUP):c.708-6C>T
|
rs782704213
|
|
NM_002230.4(JUP):c.950A>C (p.Gln317Pro)
|
rs782509792
|
|
NM_002294.3(LAMP2):c.14G>T (p.Arg5Leu)
|
rs1921666685
|
|
NM_002294.3(LAMP2):c.183+5G>A
|
rs730880479
|
|
NM_002294.3(LAMP2):c.313G>A (p.Ala105Thr)
|
|
|
NM_002294.3(LAMP2):c.380C>G (p.Pro127Arg)
|
rs1200950486
|
|
NM_002294.3(LAMP2):c.397+6C>G
|
rs1569371192
|
|
NM_002294.3(LAMP2):c.723G>A (p.Leu241=)
|
rs1569369647
|
|
NM_002294.3(LAMP2):c.770A>G (p.Asn257Ser)
|
rs1569369275
|
|
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly)
|
rs138572790
|
|
NM_002471.4(MYH6):c.1196G>A (p.Gly399Glu)
|
|
|
NM_002471.4(MYH6):c.1892-10C>T
|
rs1322705042
|
|
NM_002471.4(MYH6):c.2419G>C (p.Val807Leu)
|
|
|
NM_002471.4(MYH6):c.2538G>A (p.Glu846=)
|
rs730880150
|
|
NM_002471.4(MYH6):c.2575G>A (p.Gly859Arg)
|
rs369274077
|
|
NM_002471.4(MYH6):c.2575G>T (p.Gly859Trp)
|
rs369274077
|
|
NM_002471.4(MYH6):c.2806G>A (p.Ala936Thr)
|
rs141704264
|
|
NM_002471.4(MYH6):c.3343-3del
|
rs1027186100
|
|
NM_002471.4(MYH6):c.3844C>G (p.Leu1282Val)
|
rs1425090608
|
|
NM_002471.4(MYH6):c.3979-10C>T
|
rs28730768
|
|
NM_002471.4(MYH6):c.3979-7_3979-6del
|
rs796313537
|
|
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC
|
rs727503235
|
|
NM_002471.4(MYH6):c.4207G>A (p.Glu1403Lys)
|
rs769398160
|
|
NM_002471.4(MYH6):c.4665C>A (p.His1555Gln)
|
rs373888186
|
|
NM_002471.4(MYH6):c.503-8T>C
|
rs1566516373
|
|
NM_002471.4(MYH6):c.5407G>A (p.Glu1803Lys)
|
|
|
NM_002471.4(MYH6):c.5748G>C (p.Glu1916Asp)
|
rs1566503504
|
|
NM_002471.4(MYH6):c.601A>G (p.Ile201Val)
|
rs1891728161
|
|
NM_002471.4(MYH6):c.642+3G>A
|
rs374013248
|
|
NM_002471.4(MYH6):c.736-1G>A
|
rs915107695
|
|
NM_002667.5(PLN):c.149T>C (p.Met50Thr)
|
rs1779076744
|
|
NM_002667.5(PLN):c.63_64dup (p.Gln22fs)
|
rs794729138
|
|
NM_003280.3(TNNC1):c.202+9C>T
|
rs1559616155
|
|
NM_003280.3(TNNC1):c.305G>T (p.Arg102Leu)
|
rs143020831
|
|
NM_003280.3(TNNC1):c.317+8C>A
|
rs767111898
|
|
NM_003280.3(TNNC1):c.433G>C (p.Asp145His)
|
rs142759728
|
|
NM_003280.3(TNNC1):c.486G>T (p.Ter162Tyr)
|
|
|
NM_003280.3(TNNC1):c.73G>A (p.Asp25Asn)
|
rs730881064
|
|
NM_003476.5(CSRP3):c.10_11del (p.Trp4fs)
|
rs1554968150
|
|
NM_003476.5(CSRP3):c.113-9T>C
|
|
|
NM_003476.5(CSRP3):c.17G>A (p.Gly6Glu)
|
rs1431565691
|
|
NM_003476.5(CSRP3):c.382T>C (p.Tyr128His)
|
rs1565050687
|
|
NM_003476.5(CSRP3):c.457_458del (p.Leu154fs)
|
rs748393033
|
|
NM_003476.5(CSRP3):c.497T>G (p.Leu166Arg)
|
rs1565050249
|
|
NM_003476.5(CSRP3):c.509-7T>G
|
rs1565049368
|
|
NM_003476.5(CSRP3):c.511T>G (p.Cys171Gly)
|
rs770760020
|
|
NM_003476.5(CSRP3):c.526T>G (p.Phe176Val)
|
rs2133503927
|
|
NM_003673.4(TCAP):c.453_470del (p.Leu152_Ser157del)
|
rs749817987
|
|
NM_003673.4(TCAP):c.472C>T (p.Arg158Cys)
|
rs397516863
|
|
NM_003673.4(TCAP):c.494A>T (p.Gln165Leu)
|
rs2057253901
|
|
NM_003737.4(DCHS1):c.2684C>T (p.Pro895Leu)
|
|
|
NM_004281.4(BAG3):c.1259C>T (p.Pro420Leu)
|
rs1303615373
|
|
NM_004415.4(DSP):c.*2A>G
|
|
|
NM_004415.4(DSP):c.-15C>T
|
|
|
NM_004415.4(DSP):c.-7C>T
|
|
|
NM_004415.4(DSP):c.1006C>T (p.Leu336Phe)
|
rs759818187
|
|
NM_004415.4(DSP):c.1044G>A (p.Glu348=)
|
rs1758868593
|
|
NM_004415.4(DSP):c.1052T>C (p.Met351Thr)
|
rs2113672417
|
|
NM_004415.4(DSP):c.1067C>A (p.Thr356Lys)
|
rs780626687
|
|
NM_004415.4(DSP):c.1067C>T (p.Thr356Met)
|
rs780626687
|
|
NM_004415.4(DSP):c.1089G>C (p.Gln363His)
|
|
|
NM_004415.4(DSP):c.1094C>G (p.Thr365Ser)
|
rs754577019
|
|
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile)
|
rs757853478
|
|
NM_004415.4(DSP):c.1150G>C (p.Glu384Gln)
|
rs1758908778
|
|
NM_004415.4(DSP):c.1216G>A (p.Asp406Asn)
|
rs1758911711
|
|
NM_004415.4(DSP):c.1226T>C (p.Met409Thr)
|
rs1758912290
|
|
NM_004415.4(DSP):c.1237C>T (p.His413Tyr)
|
|
|
NM_004415.4(DSP):c.1239C>A (p.His413Gln)
|
|
|
NM_004415.4(DSP):c.1240C>G (p.Leu414Val)
|
rs1758912999
|
|
NM_004415.4(DSP):c.1255A>G (p.Lys419Glu)
|
|
|
NM_004415.4(DSP):c.1264G>A (p.Glu422Lys)
|
rs397516914
|
|
NM_004415.4(DSP):c.1266+6G>A
|
rs73375345
|
|
NM_004415.4(DSP):c.128C>T (p.Ser43Phe)
|
rs1757997664
|
|
NM_004415.4(DSP):c.1292A>G (p.Tyr431Cys)
|
rs1758929629
|
|
NM_004415.4(DSP):c.1352G>A (p.Arg451His)
|
rs786204294
|
|
NM_004415.4(DSP):c.1379C>T (p.Pro460Leu)
|
rs757300149
|
|
NM_004415.4(DSP):c.1416T>G (p.Asp472Glu)
|
rs1758935121
|
|
NM_004415.4(DSP):c.1419+27_1419+28del
|
rs786204295
|
|
NM_004415.4(DSP):c.1420-9G>C
|
rs1758956235
|
|
NM_004415.4(DSP):c.1426G>A (p.Val476Met)
|
rs367987327
|
|
NM_004415.4(DSP):c.1435G>C (p.Gly479Arg)
|
rs1288305110
|
|
NM_004415.4(DSP):c.1444T>C (p.Cys482Arg)
|
rs746816016
|
|
NM_004415.4(DSP):c.1463A>G (p.Asn488Ser)
|
|
|
NM_004415.4(DSP):c.146C>T (p.Thr49Ile)
|
rs151153655
|
|
NM_004415.4(DSP):c.148G>C (p.Asp50His)
|
|
|
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala)
|
rs1581803474
|
|
NM_004415.4(DSP):c.1504G>A (p.Asp502Asn)
|
rs750547425
|
|
NM_004415.4(DSP):c.1519T>C (p.Ser507Pro)
|
rs1758967074
|
|
NM_004415.4(DSP):c.153G>C (p.Gln51His)
|
rs1450725914
|
|
NM_004415.4(DSP):c.1548C>G (p.Asn516Lys)
|
rs1407207091
|
|
NM_004415.4(DSP):c.154A>G (p.Asn52Asp)
|
rs2113629165
|
|
NM_004415.4(DSP):c.1563C>A (p.Asp521Glu)
|
rs113378925
|
|
NM_004415.4(DSP):c.1574A>G (p.Lys525Arg)
|
|
|
NM_004415.4(DSP):c.1577T>C (p.Ile526Thr)
|
rs1561689358
|
|
NM_004415.4(DSP):c.157T>C (p.Ser53Pro)
|
rs397516918
|
|
NM_004415.4(DSP):c.158C>T (p.Ser53Leu)
|
rs1398517175
|
|
NM_004415.4(DSP):c.1601T>C (p.Leu534Ser)
|
rs1759009878
|
|
NM_004415.4(DSP):c.1603G>A (p.Ala535Thr)
|
rs777088675
|
|
NM_004415.4(DSP):c.1614C>G (p.Asn538Lys)
|
rs1759010824
|
|
NM_004415.4(DSP):c.1672G>C (p.Glu558Gln)
|
|
|
NM_004415.4(DSP):c.167A>G (p.Tyr56Cys)
|
|
|
NM_004415.4(DSP):c.170+3G>A
|
rs1758001924
|
|
NM_004415.4(DSP):c.170+5del
|
rs1554104240
|
|
NM_004415.4(DSP):c.1729A>C (p.Met577Leu)
|
rs764127243
|
|
NM_004415.4(DSP):c.1736C>T (p.Thr579Met)
|
|
|
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile)
|
rs1759048949
|
|
NM_004415.4(DSP):c.1817G>A (p.Arg606Gln)
|
rs576661499
|
|
NM_004415.4(DSP):c.1826A>G (p.Gln609Arg)
|
|
|
NM_004415.4(DSP):c.1833G>C (p.Gln611His)
|
|
|
NM_004415.4(DSP):c.185T>C (p.Met62Thr)
|
rs1758488043
|
|
NM_004415.4(DSP):c.186G>A (p.Met62Ile)
|
rs1758488135
|
|
NM_004415.4(DSP):c.1874A>T (p.Gln625Leu)
|
rs1759053331
|
|
NM_004415.4(DSP):c.1880C>T (p.Pro627Leu)
|
rs2113679213
|
|
NM_004415.4(DSP):c.1903+3del
|
rs1064793548
|
|
NM_004415.4(DSP):c.1920C>G (p.Ile640Met)
|
rs74806300
|
|
NM_004415.4(DSP):c.1924C>T (p.His642Tyr)
|
rs1759063948
|
|
NM_004415.4(DSP):c.1927C>G (p.His643Asp)
|
rs1759064034
|
|
NM_004415.4(DSP):c.1928A>G (p.His643Arg)
|
rs1759064128
|
|
NM_004415.4(DSP):c.192G>T (p.Arg64Ser)
|
rs908789038
|
|
NM_004415.4(DSP):c.1937G>A (p.Cys646Tyr)
|
rs977527385
|
|
NM_004415.4(DSP):c.1943A>T (p.Asp648Val)
|
rs1759064728
|
|
NM_004415.4(DSP):c.1952A>G (p.His651Arg)
|
rs1759065265
|
|
NM_004415.4(DSP):c.1970C>T (p.Thr657Ile)
|
rs1014373689
|
|
NM_004415.4(DSP):c.1976_1987del (p.Arg659_Asp662del)
|
rs1554107128
|
|
NM_004415.4(DSP):c.1984G>A (p.Asp662Asn)
|
rs1759067108
|
|
NM_004415.4(DSP):c.1999T>C (p.Trp667Arg)
|
rs1411393602
|
|
NM_004415.4(DSP):c.1A>G (p.Met1Val)
|
rs1131691557
|
|
NM_004415.4(DSP):c.2012A>G (p.Glu671Gly)
|
rs758530970
|
|
NM_004415.4(DSP):c.2035A>G (p.Ile679Val)
|
rs1759070407
|
|
NM_004415.4(DSP):c.2036T>A (p.Ile679Lys)
|
rs1561690811
|
|
NM_004415.4(DSP):c.2059A>T (p.Thr687Ser)
|
|
|
NM_004415.4(DSP):c.2087A>G (p.Gln696Arg)
|
rs1759072711
|
|
NM_004415.4(DSP):c.209C>T (p.Thr70Ile)
|
rs2113653829
|
|
NM_004415.4(DSP):c.2130+6dup
|
rs1759074746
|
|
NM_004415.4(DSP):c.2132G>A (p.Ser711Asn)
|
|
|
NM_004415.4(DSP):c.2134G>T (p.Val712Leu)
|
rs397516922
|
|
NM_004415.4(DSP):c.2153C>T (p.Ala718Val)
|
rs764290255
|
|
NM_004415.4(DSP):c.2155A>C (p.Ile719Leu)
|
rs1057520654
|
|
NM_004415.4(DSP):c.2161G>A (p.Glu721Lys)
|
rs963374775
|
|
NM_004415.4(DSP):c.2164G>A (p.Val722Ile)
|
rs1581808686
|
|
NM_004415.4(DSP):c.2164G>T (p.Val722Phe)
|
rs1581808686
|
|
NM_004415.4(DSP):c.2168T>C (p.Leu723Pro)
|
rs1554107443
|
|
NM_004415.4(DSP):c.2171A>G (p.Asn724Ser)
|
rs757299922
|
|
NM_004415.4(DSP):c.2186T>A (p.Met729Lys)
|
rs758200210
|
|
NM_004415.4(DSP):c.2196C>G (p.Asn732Lys)
|
rs1424884336
|
|
NM_004415.4(DSP):c.2221_2223delinsCAG (p.Tyr741Gln)
|
|
|
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala)
|
rs969462343
|
|
NM_004415.4(DSP):c.2298-11G>C
|
|
|
NM_004415.4(DSP):c.2299T>G (p.Leu767Val)
|
rs1561692940
|
|
NM_004415.4(DSP):c.2303G>A (p.Cys768Tyr)
|
rs1759176721
|
|
NM_004415.4(DSP):c.2308G>C (p.Val770Leu)
|
rs1225927424
|
|
NM_004415.4(DSP):c.2320C>T (p.Leu774Phe)
|
|
|
NM_004415.4(DSP):c.2326G>A (p.Ala776Thr)
|
rs1759178969
|
|
NM_004415.4(DSP):c.2333T>C (p.Leu778Pro)
|
rs1337668206
|
|
NM_004415.4(DSP):c.2348T>C (p.Met783Thr)
|
|
|
NM_004415.4(DSP):c.2353A>C (p.Lys785Gln)
|
rs1759181057
|
|
NM_004415.4(DSP):c.2390T>C (p.Val797Ala)
|
rs2113684220
|
|
NM_004415.4(DSP):c.2404G>A (p.Asp802Asn)
|
rs770105310
|
|
NM_004415.4(DSP):c.2435A>T (p.Lys812Met)
|
rs1268969488
|
|
NM_004415.4(DSP):c.243C>T (p.Cys81=)
|
rs947998304
|
|
NM_004415.4(DSP):c.2441T>C (p.Ile814Thr)
|
rs1393048121
|
|
NM_004415.4(DSP):c.2450A>C (p.Asp817Ala)
|
|
|
NM_004415.4(DSP):c.2489C>T (p.Thr830Ile)
|
|
|
NM_004415.4(DSP):c.2528C>T (p.Ser843Leu)
|
rs1057518920
|
|
NM_004415.4(DSP):c.2549A>G (p.Asp850Gly)
|
rs1759208321
|
|
NM_004415.4(DSP):c.2555A>G (p.Asp852Gly)
|
rs1561693903
|
|
NM_004415.4(DSP):c.2575A>G (p.Lys859Glu)
|
rs1759209975
|
|
NM_004415.4(DSP):c.2582C>T (p.Thr861Ile)
|
rs1759210367
|
|
NM_004415.4(DSP):c.2619G>A (p.Gln873=)
|
|
|
NM_004415.4(DSP):c.2620A>T (p.Ile874Phe)
|
rs1759212430
|
|
NM_004415.4(DSP):c.2623G>A (p.Asp875Asn)
|
rs200338012
|
|
NM_004415.4(DSP):c.2623G>C (p.Asp875His)
|
rs200338012
|
|
NM_004415.4(DSP):c.2631-13dup
|
rs1455610668
|
|
NM_004415.4(DSP):c.2674C>G (p.Arg892Gly)
|
rs750800025
|
|
NM_004415.4(DSP):c.2687A>G (p.Gln896Arg)
|
rs2113686568
|
|
NM_004415.4(DSP):c.2723G>T (p.Arg908Leu)
|
rs142494121
|
|
NM_004415.4(DSP):c.274-8_274-7delinsAT
|
rs1561680554
|
|
NM_004415.4(DSP):c.2743A>T (p.Met915Leu)
|
rs1317345069
|
|
NM_004415.4(DSP):c.2758T>C (p.Ser920Pro)
|
rs373804924
|
|
NM_004415.4(DSP):c.2759C>T (p.Ser920Phe)
|
rs1481929065
|
|
NM_004415.4(DSP):c.2770A>G (p.Met924Val)
|
rs2113686779
|
|
NM_004415.4(DSP):c.279G>C (p.Leu93Phe)
|
rs1447901875
|
|
NM_004415.4(DSP):c.2834A>G (p.Glu945Gly)
|
rs1759260761
|
|
NM_004415.4(DSP):c.2852C>T (p.Ala951Val)
|
rs1418218757
|
|
NM_004415.4(DSP):c.2863G>A (p.Ala955Thr)
|
rs190421916
|
|
NM_004415.4(DSP):c.286G>A (p.Gly96Arg)
|
rs2113657461
|
|
NM_004415.4(DSP):c.2878-2A>T
|
rs1759285602
|
|
NM_004415.4(DSP):c.2879A>G (p.Asp960Gly)
|
|
|
NM_004415.4(DSP):c.287G>C (p.Gly96Ala)
|
rs748070943
|
|
NM_004415.4(DSP):c.2887C>T (p.Leu963Phe)
|
rs779931043
|
|
NM_004415.4(DSP):c.2932A>G (p.Ile978Val)
|
rs780823789
|
|
NM_004415.4(DSP):c.2951T>A (p.Met984Lys)
|
rs1452300736
|
|
NM_004415.4(DSP):c.2986G>C (p.Ala996Pro)
|
rs1254054471
|
|
NM_004415.4(DSP):c.2986G>T (p.Ala996Ser)
|
rs1254054471
|
|
NM_004415.4(DSP):c.2994T>G (p.Asp998Glu)
|
rs755610951
|
|
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln)
|
rs371234425
|
|
NM_004415.4(DSP):c.3005G>C (p.Arg1002Pro)
|
rs371234425
|
|
NM_004415.4(DSP):c.3010A>G (p.Ile1004Val)
|
rs1561696251
|
|
NM_004415.4(DSP):c.3019C>T (p.Leu1007Phe)
|
rs1018173692
|
|
NM_004415.4(DSP):c.3023C>T (p.Thr1008Ile)
|
rs1334187363
|
|
NM_004415.4(DSP):c.3075A>C (p.Glu1025Asp)
|
|
|
NM_004415.4(DSP):c.3085-3_3085delinsTTCGATCT
|
|
|
NM_004415.4(DSP):c.3099G>T (p.Lys1033Asn)
|
rs1581814913
|
|
NM_004415.4(DSP):c.311G>A (p.Ser104Asn)
|
|
|
NM_004415.4(DSP):c.3137A>G (p.Asp1046Gly)
|
rs752077454
|
|
NM_004415.4(DSP):c.3140C>T (p.Ala1047Val)
|
rs397516931
|
|
NM_004415.4(DSP):c.3155G>T (p.Cys1052Phe)
|
rs2113691184
|
|
NM_004415.4(DSP):c.3167A>G (p.Lys1056Arg)
|
|
|
NM_004415.4(DSP):c.3194A>T (p.Tyr1065Phe)
|
rs1759343554
|
|
NM_004415.4(DSP):c.3218A>T (p.Lys1073Ile)
|
rs1759344349
|
|
NM_004415.4(DSP):c.3254A>T (p.Gln1085Leu)
|
rs2113691330
|
|
NM_004415.4(DSP):c.3282G>C (p.Lys1094Asn)
|
rs2491080
|
|
NM_004415.4(DSP):c.3298T>C (p.Cys1100Arg)
|
rs757539604
|
|
NM_004415.4(DSP):c.3298T>G (p.Cys1100Gly)
|
rs757539604
|
|
NM_004415.4(DSP):c.3301T>C (p.Tyr1101His)
|
rs1759347959
|
|
NM_004415.4(DSP):c.3304G>C (p.Gly1102Arg)
|
|
|
NM_004415.4(DSP):c.3310A>C (p.Ile1104Leu)
|
|
|
NM_004415.4(DSP):c.3341T>C (p.Leu1114Pro)
|
rs1759349625
|
|
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile)
|
rs1393151720
|
|
NM_004415.4(DSP):c.3408_3409delinsAG (p.Asn1137Asp)
|
rs1759352206
|
|
NM_004415.4(DSP):c.3423A>C (p.Gln1141His)
|
rs759288257
|
|
NM_004415.4(DSP):c.3429G>C (p.Gln1143His)
|
rs1759353161
|
|
NM_004415.4(DSP):c.3456C>A (p.Asn1152Lys)
|
|
|
NM_004415.4(DSP):c.3461G>A (p.Gly1154Asp)
|
rs2113691810
|
|
NM_004415.4(DSP):c.3465G>C (p.Trp1155Cys)
|
rs1759354150
|
|
NM_004415.4(DSP):c.3490A>G (p.Ile1164Val)
|
|
|
NM_004415.4(DSP):c.34A>C (p.Asn12His)
|
rs1757990554
|
|
NM_004415.4(DSP):c.3504G>T (p.Glu1168Asp)
|
rs1490403808
|
|
NM_004415.4(DSP):c.3512T>C (p.Ile1171Thr)
|
rs762449180
|
|
NM_004415.4(DSP):c.3521T>C (p.Leu1174Ser)
|
|
|
NM_004415.4(DSP):c.3526G>A (p.Val1176Ile)
|
|
|
NM_004415.4(DSP):c.3536A>G (p.Gln1179Arg)
|
rs1759357846
|
|
NM_004415.4(DSP):c.3544G>C (p.Gly1182Arg)
|
rs1581815823
|
|
NM_004415.4(DSP):c.3557G>A (p.Arg1186Lys)
|
rs1223608451
|
|
NM_004415.4(DSP):c.3565G>A (p.Glu1189Lys)
|
rs866149042
|
|
NM_004415.4(DSP):c.3625A>C (p.Lys1209Gln)
|
rs1283110287
|
|
NM_004415.4(DSP):c.3626A>G (p.Lys1209Arg)
|
rs1759361771
|
|
NM_004415.4(DSP):c.3633A>C (p.Glu1211Asp)
|
rs1759362068
|
|
NM_004415.4(DSP):c.3642T>G (p.Ile1214Met)
|
rs755908729
|
|
NM_004415.4(DSP):c.3704T>C (p.Leu1235Pro)
|
rs1356943828
|
|
NM_004415.4(DSP):c.3712C>A (p.Gln1238Lys)
|
rs767519046
|
|
NM_004415.4(DSP):c.3745C>G (p.Leu1249Val)
|
|
|
NM_004415.4(DSP):c.3757A>T (p.Ile1253Phe)
|
|
|
NM_004415.4(DSP):c.3759T>G (p.Ile1253Met)
|
rs1196416496
|
|
NM_004415.4(DSP):c.3763A>G (p.Arg1255Gly)
|
rs1477870659
|
|
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys)
|
rs777407386
|
|
NM_004415.4(DSP):c.3770A>G (p.Asn1257Ser)
|
rs1561697968
|
|
NM_004415.4(DSP):c.3784C>G (p.Gln1262Glu)
|
rs2113692628
|
|
NM_004415.4(DSP):c.3790A>G (p.Thr1264Ala)
|
|
|
NM_004415.4(DSP):c.3805C>G (p.Arg1269Gly)
|
|
|
NM_004415.4(DSP):c.3806G>A (p.Arg1269Gln)
|
rs876657795
|
|
NM_004415.4(DSP):c.3835G>T (p.Ala1279Ser)
|
rs763915365
|
|
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn)
|
rs768166626
|
|
NM_004415.4(DSP):c.3880G>A (p.Glu1294Lys)
|
|
|
NM_004415.4(DSP):c.3919G>T (p.Ala1307Ser)
|
|
|
NM_004415.4(DSP):c.3923G>T (p.Arg1308Leu)
|
rs184154918
|
|
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile)
|
rs138599871
|
|
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
|
|
|
NM_004415.4(DSP):c.3981C>G (p.Ile1327Met)
|
rs397516934
|
|
NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys)
|
rs746208168
|
|
NM_004415.4(DSP):c.3982G>C (p.Glu1328Gln)
|
rs746208168
|
|
NM_004415.4(DSP):c.3985A>G (p.Arg1329Gly)
|
|
|
NM_004415.4(DSP):c.3989T>A (p.Leu1330His)
|
|
|
NM_004415.4(DSP):c.4018C>G (p.Arg1340Gly)
|
rs768628788
|
|
NM_004415.4(DSP):c.4018C>T (p.Arg1340Cys)
|
rs768628788
|
|
NM_004415.4(DSP):c.4022G>T (p.Arg1341Leu)
|
|
|
NM_004415.4(DSP):c.4034A>C (p.Glu1345Ala)
|
rs201964660
|
|
NM_004415.4(DSP):c.4044G>A (p.Leu1348=)
|
|
|
NM_004415.4(DSP):c.4069GAG[1] (p.Glu1358del)
|
rs777457799
|
|
NM_004415.4(DSP):c.4071G>C (p.Glu1357Asp)
|
rs569786610
|
|
NM_004415.4(DSP):c.4107_4108delinsTG (p.Glu1369_Ile1370delinsAspVal)
|
rs1759384287
|
|
NM_004415.4(DSP):c.4130T>A (p.Ile1377Asn)
|
rs1215591946
|
|
NM_004415.4(DSP):c.4172A>C (p.Tyr1391Ser)
|
rs727504547
|
|
NM_004415.4(DSP):c.4201G>C (p.Glu1401Gln)
|
rs774065012
|
|
NM_004415.4(DSP):c.4211G>A (p.Ser1404Asn)
|
rs1759389281
|
|
NM_004415.4(DSP):c.422+3A>G
|
rs1758564707
|
|
NM_004415.4(DSP):c.4252C>G (p.Gln1418Glu)
|
|
|
NM_004415.4(DSP):c.4259C>T (p.Thr1420Ile)
|
|
|
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys)
|
rs769965019
|
|
NM_004415.4(DSP):c.4322C>G (p.Ser1441Cys)
|
|
|
NM_004415.4(DSP):c.4337A>G (p.Gln1446Arg)
|
|
|
NM_004415.4(DSP):c.434T>A (p.Leu145His)
|
|
|
NM_004415.4(DSP):c.4355G>T (p.Arg1452Ile)
|
|
|
NM_004415.4(DSP):c.4384A>G (p.Ser1462Gly)
|
rs1759397094
|
|
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile)
|
rs730880090
|
|
NM_004415.4(DSP):c.4403C>G (p.Ser1468Cys)
|
rs1759398862
|
|
NM_004415.4(DSP):c.4405C>G (p.Leu1469Val)
|
rs752121953
|
|
NM_004415.4(DSP):c.4420A>G (p.Lys1474Glu)
|
rs1235007628
|
|
NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg)
|
rs756456881
|
|
NM_004415.4(DSP):c.4441A>G (p.Lys1481Glu)
|
rs1759400634
|
|
NM_004415.4(DSP):c.4469T>C (p.Ile1490Thr)
|
rs1169999963
|
|
NM_004415.4(DSP):c.4490G>C (p.Arg1497Pro)
|
|
|
NM_004415.4(DSP):c.4502A>G (p.Glu1501Gly)
|
rs1759403946
|
|
NM_004415.4(DSP):c.451G>T (p.Ala151Ser)
|
rs1758601354
|
|
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del)
|
rs397516939
|
|
NM_004415.4(DSP):c.4541T>C (p.Leu1514Pro)
|
rs1173680775
|
|
NM_004415.4(DSP):c.4558A>G (p.Ser1520Gly)
|
rs780953141
|
|
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys)
|
rs780953141
|
|
NM_004415.4(DSP):c.4571C>A (p.Thr1524Lys)
|
rs397516941
|
|
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile)
|
rs397516941
|
|
NM_004415.4(DSP):c.4595A>G (p.Glu1532Gly)
|
rs1759408509
|
|
NM_004415.4(DSP):c.4604T>C (p.Leu1535Pro)
|
|
|
NM_004415.4(DSP):c.4629A>C (p.Glu1543Asp)
|
rs1759410036
|
|
NM_004415.4(DSP):c.4636T>C (p.Ser1546Pro)
|
rs1280704171
|
|
NM_004415.4(DSP):c.466A>G (p.Ile156Val)
|
|
|
NM_004415.4(DSP):c.4678C>G (p.Gln1560Glu)
|
|
|
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg)
|
rs796530013
|
|
NM_004415.4(DSP):c.4696CTGCAG[1] (p.1566LQ[1])
|
rs1379223945
|
|
NM_004415.4(DSP):c.46C>A (p.Arg16Ser)
|
rs754773488
|
|
NM_004415.4(DSP):c.4717G>A (p.Val1573Met)
|
rs370171270
|
|
NM_004415.4(DSP):c.4748C>T (p.Thr1583Ile)
|
rs778603023
|
|
NM_004415.4(DSP):c.4750G>C (p.Ala1584Pro)
|
rs191778417
|
|
NM_004415.4(DSP):c.4763_4765del (p.Ser1588del)
|
rs1010996982
|
|
NM_004415.4(DSP):c.4787A>G (p.Glu1596Gly)
|
rs2113694907
|
|
NM_004415.4(DSP):c.4796A>G (p.Glu1599Gly)
|
rs1759417690
|
|
NM_004415.4(DSP):c.47G>A (p.Arg16His)
|
rs752387234
|
|
NM_004415.4(DSP):c.47G>C (p.Arg16Pro)
|
rs752387234
|
|
NM_004415.4(DSP):c.484C>G (p.Arg162Gly)
|
rs760711308
|
|
NM_004415.4(DSP):c.485G>A (p.Arg162His)
|
rs397516944
|
|
NM_004415.4(DSP):c.4868C>G (p.Ser1623Cys)
|
rs908086952
|
|
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val)
|
|
|
NM_004415.4(DSP):c.4877AGA[1] (p.Lys1627del)
|
|
|
NM_004415.4(DSP):c.4879A>G (p.Lys1627Glu)
|
rs774563557
|
|
NM_004415.4(DSP):c.4894G>A (p.Asp1632Asn)
|
rs747279731
|
|
NM_004415.4(DSP):c.4900C>T (p.Arg1634Trp)
|
rs973569441
|
|
NM_004415.4(DSP):c.4901G>T (p.Arg1634Leu)
|
rs144106775
|
|
NM_004415.4(DSP):c.4910G>T (p.Arg1637Met)
|
rs1759423209
|
|
NM_004415.4(DSP):c.4913A>G (p.Asp1638Gly)
|
rs1759423375
|
|
NM_004415.4(DSP):c.4919T>G (p.Leu1640Arg)
|
|
|
NM_004415.4(DSP):c.4954G>C (p.Glu1652Gln)
|
rs267601119
|
|
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe)
|
rs202084959
|
|
NM_004415.4(DSP):c.4984G>A (p.Glu1662Lys)
|
|
|
NM_004415.4(DSP):c.502G>A (p.Gly168Ser)
|
rs1308747530
|
|
NM_004415.4(DSP):c.5030A>C (p.Gln1677Pro)
|
rs1759429222
|
|
NM_004415.4(DSP):c.5032G>A (p.Ala1678Thr)
|
rs1759429339
|
|
NM_004415.4(DSP):c.5033C>T (p.Ala1678Val)
|
rs1759429468
|
|
NM_004415.4(DSP):c.5065A>C (p.Ile1689Leu)
|
rs1043797322
|
|
NM_004415.4(DSP):c.506G>C (p.Gly169Ala)
|
rs1758605175
|
|
NM_004415.4(DSP):c.5094A>C (p.Glu1698Asp)
|
rs1759431545
|
|
NM_004415.4(DSP):c.5107A>T (p.Ile1703Phe)
|
rs868035157
|
|
NM_004415.4(DSP):c.5120A>G (p.Gln1707Arg)
|
|
|
NM_004415.4(DSP):c.5125C>T (p.Leu1709Phe)
|
rs1759432908
|
|
NM_004415.4(DSP):c.512_513delinsAA (p.Gly171Glu)
|
rs1758605814
|
|
NM_004415.4(DSP):c.5134A>T (p.Asn1712Tyr)
|
rs2113695647
|
|
NM_004415.4(DSP):c.5135A>T (p.Asn1712Ile)
|
rs1759433132
|
|
NM_004415.4(DSP):c.5149C>G (p.His1717Asp)
|
rs1759433551
|
|
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del)
|
rs730880091
|
|
NM_004415.4(DSP):c.5174G>A (p.Arg1725Gln)
|
rs1759434677
|
|
NM_004415.4(DSP):c.5197_5198delinsAC (p.Asp1733Thr)
|
rs2113695804
|
|
NM_004415.4(DSP):c.5227A>G (p.Ser1743Gly)
|
rs1759437499
|
|
NM_004415.4(DSP):c.5249T>G (p.Leu1750Trp)
|
rs1759438511
|
|
NM_004415.4(DSP):c.524A>G (p.Gln175Arg)
|
rs1758606565
|
|
NM_004415.4(DSP):c.5265G>C (p.Gln1755His)
|
rs1759438957
|
|
NM_004415.4(DSP):c.52A>C (p.Ile18Leu)
|
|
|
NM_004415.4(DSP):c.5315A>G (p.Asp1772Gly)
|
rs1759440895
|
|
NM_004415.4(DSP):c.5321A>G (p.Gln1774Arg)
|
|
|
NM_004415.4(DSP):c.5326G>A (p.Glu1776Lys)
|
|
|
NM_004415.4(DSP):c.5353_5355delinsAAA (p.Glu1785Lys)
|
rs1759442103
|
|
NM_004415.4(DSP):c.535G>A (p.Gly179Ser)
|
rs774829433
|
|
NM_004415.4(DSP):c.5380-4C>G
|
rs756405593
|
|
NM_004415.4(DSP):c.5413T>C (p.Cys1805Arg)
|
rs746731287
|
|
NM_004415.4(DSP):c.5414G>T (p.Cys1805Phe)
|
rs768161038
|
|
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn)
|
rs730880085
|
|
NM_004415.4(DSP):c.5479G>A (p.Ala1827Thr)
|
rs747643627
|
|
NM_004415.4(DSP):c.5507T>C (p.Leu1836Pro)
|
rs1759480891
|
|
NM_004415.4(DSP):c.5512C>T (p.Arg1838Cys)
|
rs756481791
|
|
NM_004415.4(DSP):c.5513G>T (p.Arg1838Leu)
|
rs377715841
|
|
NM_004415.4(DSP):c.5515G>A (p.Ala1839Thr)
|
rs1759481360
|
|
NM_004415.4(DSP):c.5524A>T (p.Thr1842Ser)
|
|
|
NM_004415.4(DSP):c.5553G>C (p.Gln1851His)
|
rs1259972571
|
|
NM_004415.4(DSP):c.5563T>C (p.Cys1855Arg)
|
rs1453126950
|
|
NM_004415.4(DSP):c.5570A>C (p.Lys1857Thr)
|
rs1178938416
|
|
NM_004415.4(DSP):c.5579T>C (p.Ile1860Thr)
|
rs1360244764
|
|
NM_004415.4(DSP):c.557A>T (p.His186Leu)
|
rs1033990351
|
|
NM_004415.4(DSP):c.5597A>G (p.Gln1866Arg)
|
|
|
NM_004415.4(DSP):c.55C>T (p.Arg19Cys)
|
rs777340009
|
|
NM_004415.4(DSP):c.560T>G (p.Val187Gly)
|
|
|
NM_004415.4(DSP):c.5626G>A (p.Glu1876Lys)
|
rs1252594295
|
|
NM_004415.4(DSP):c.5642T>C (p.Ile1881Thr)
|
rs1192963820
|
|
NM_004415.4(DSP):c.5647T>G (p.Ser1883Ala)
|
rs1056652234
|
|
NM_004415.4(DSP):c.5657A>G (p.Glu1886Gly)
|
rs1759489572
|
|
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs)
|
rs774763657
|
|
NM_004415.4(DSP):c.5683C>G (p.Leu1895Val)
|
rs1159494439
|
|
NM_004415.4(DSP):c.5699A>G (p.Glu1900Gly)
|
rs1759492981
|
|
NM_004415.4(DSP):c.5711C>T (p.Ala1904Val)
|
rs1473162721
|
|
NM_004415.4(DSP):c.5718C>G (p.Ile1906Met)
|
rs2113698577
|
|
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser)
|
rs371873840
|
|
NM_004415.4(DSP):c.5738G>C (p.Cys1913Ser)
|
rs755250746
|
|
NM_004415.4(DSP):c.5743C>T (p.Arg1915Cys)
|
rs1461028383
|
|
NM_004415.4(DSP):c.5757T>G (p.Asp1919Glu)
|
rs727504871
|
|
NM_004415.4(DSP):c.575T>C (p.Leu192Ser)
|
|
|
NM_004415.4(DSP):c.5801G>A (p.Arg1934Gln)
|
|
|
NM_004415.4(DSP):c.5807A>T (p.Gln1936Leu)
|
rs1759498186
|
|
NM_004415.4(DSP):c.5816T>C (p.Ile1939Thr)
|
|
|
NM_004415.4(DSP):c.5819A>T (p.Asp1940Val)
|
rs1430290356
|
|
NM_004415.4(DSP):c.5828G>T (p.Arg1943Ile)
|
|
|
NM_004415.4(DSP):c.5851C>G (p.Arg1951Gly)
|
rs869025395
|
|
NM_004415.4(DSP):c.5852G>A (p.Arg1951Gln)
|
|
|
NM_004415.4(DSP):c.5866G>A (p.Glu1956Lys)
|
rs1759501739
|
|
NM_004415.4(DSP):c.5894A>G (p.Lys1965Arg)
|
rs1561701637
|
|
NM_004415.4(DSP):c.5903T>G (p.Phe1968Cys)
|
rs1391409186
|
|
NM_004415.4(DSP):c.590A>T (p.Gln197Leu)
|
rs2113660072
|
|
NM_004415.4(DSP):c.5918A>G (p.Lys1973Arg)
|
rs376397314
|
|
NM_004415.4(DSP):c.5924T>C (p.Val1975Ala)
|
rs1759505693
|
|
NM_004415.4(DSP):c.5933T>C (p.Met1978Thr)
|
rs1322656621
|
|
NM_004415.4(DSP):c.5934G>C (p.Met1978Ile)
|
rs1759506508
|
|
NM_004415.4(DSP):c.5942A>G (p.Tyr1981Cys)
|
rs1085307622
|
|
NM_004415.4(DSP):c.5958C>G (p.Ile1986Met)
|
rs577625038
|
|
NM_004415.4(DSP):c.5969C>T (p.Thr1990Ile)
|
|
|
NM_004415.4(DSP):c.597+2_597+5dup
|
rs765558005
|
|
NM_004415.4(DSP):c.6008A>G (p.Glu2003Gly)
|
rs1457667981
|
|
NM_004415.4(DSP):c.6011T>C (p.Val2004Ala)
|
rs1759511205
|
|
NM_004415.4(DSP):c.6017C>A (p.Ser2006Tyr)
|
rs1759511635
|
|
NM_004415.4(DSP):c.6029C>T (p.Pro2010Leu)
|
rs2113699350
|
|
NM_004415.4(DSP):c.6038G>C (p.Arg2013Pro)
|
rs557263443
|
|
NM_004415.4(DSP):c.6047G>A (p.Gly2016Glu)
|
|
|
NM_004415.4(DSP):c.6052A>G (p.Ile2018Val)
|
rs2113699415
|
|
NM_004415.4(DSP):c.6053T>C (p.Ile2018Thr)
|
rs1561701890
|
|
NM_004415.4(DSP):c.6055G>A (p.Ala2019Thr)
|
rs771974957
|
|
NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser)
|
rs771974957
|
|
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser)
|
rs1759514545
|
|
NM_004415.4(DSP):c.6085T>C (p.Tyr2029His)
|
rs765794044
|
|
NM_004415.4(DSP):c.6092T>C (p.Leu2031Ser)
|
|
|
NM_004415.4(DSP):c.6104A>C (p.Lys2035Thr)
|
|
|
NM_004415.4(DSP):c.6134C>G (p.Thr2045Arg)
|
rs1759516546
|
|
NM_004415.4(DSP):c.6154_6162del (p.Gln2052_Ala2054del)
|
rs1759517350
|
|
NM_004415.4(DSP):c.6160G>A (p.Ala2054Thr)
|
rs1759517531
|
|
NM_004415.4(DSP):c.6161C>T (p.Ala2054Val)
|
rs1759517621
|
|
NM_004415.4(DSP):c.6166G>C (p.Gly2056Arg)
|
rs780274878
|
|
NM_004415.4(DSP):c.616G>A (p.Ala206Thr)
|
rs794728109
|
|
NM_004415.4(DSP):c.6172A>G (p.Ile2058Val)
|
rs2113699669
|
|
NM_004415.4(DSP):c.6176T>A (p.Ile2059Asn)
|
rs1263298339
|
|
NM_004415.4(DSP):c.6176T>C (p.Ile2059Thr)
|
|
|
NM_004415.4(DSP):c.6181C>G (p.Pro2061Ala)
|
rs1561702055
|
|
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp)
|
rs374090050
|
|
NM_004415.4(DSP):c.6188G>T (p.Arg2063Leu)
|
rs142927608
|
|
NM_004415.4(DSP):c.6200T>G (p.Leu2067Arg)
|
rs2113699736
|
|
NM_004415.4(DSP):c.6214G>A (p.Ala2072Thr)
|
rs1759520180
|
|
NM_004415.4(DSP):c.6223C>G (p.Arg2075Gly)
|
rs751050235
|
|
NM_004415.4(DSP):c.6247C>G (p.Arg2083Gly)
|
rs370093129
|
|
NM_004415.4(DSP):c.6275C>T (p.Ala2092Val)
|
rs876657796
|
|
NM_004415.4(DSP):c.6290A>C (p.Asp2097Ala)
|
|
|
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile)
|
rs587782942
|
|
NM_004415.4(DSP):c.630C>A (p.Asp210Glu)
|
|
|
NM_004415.4(DSP):c.6340A>G (p.Asn2114Asp)
|
rs561452524
|
|
NM_004415.4(DSP):c.6343T>G (p.Leu2115Val)
|
rs1484456213
|
|
NM_004415.4(DSP):c.6347T>C (p.Ile2116Thr)
|
rs730880087
|
|
NM_004415.4(DSP):c.6352A>G (p.Arg2118Gly)
|
rs1311515571
|
|
NM_004415.4(DSP):c.6361G>A (p.Gly2121Arg)
|
rs368227724
|
|
NM_004415.4(DSP):c.6380C>T (p.Ala2127Val)
|
|
|
NM_004415.4(DSP):c.6386T>G (p.Ile2129Ser)
|
rs1401697610
|
|
NM_004415.4(DSP):c.6448G>A (p.Ala2150Thr)
|
rs1759533337
|
|
NM_004415.4(DSP):c.6449C>G (p.Ala2150Gly)
|
rs1487798502
|
|
NM_004415.4(DSP):c.6452G>T (p.Arg2151Leu)
|
rs367759510
|
|
NM_004415.4(DSP):c.6474G>C (p.Leu2158Phe)
|
rs1759534911
|
|
NM_004415.4(DSP):c.647A>C (p.Gln216Pro)
|
rs1758736357
|
|
NM_004415.4(DSP):c.6482C>T (p.Ser2161Phe)
|
|
|
NM_004415.4(DSP):c.6494C>T (p.Pro2165Leu)
|
rs1759535966
|
|
NM_004415.4(DSP):c.6520G>A (p.Asp2174Asn)
|
|
|
NM_004415.4(DSP):c.652A>G (p.Ile218Val)
|
rs987363401
|
|
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His)
|
rs763549172
|
|
NM_004415.4(DSP):c.6564A>C (p.Glu2188Asp)
|
|
|
NM_004415.4(DSP):c.6572G>A (p.Arg2191Lys)
|
rs527888978
|
|
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala)
|
rs2113700741
|
|
NM_004415.4(DSP):c.6622A>T (p.Met2208Leu)
|
|
|
NM_004415.4(DSP):c.6626C>G (p.Ser2209Cys)
|
rs1759543444
|
|
NM_004415.4(DSP):c.6653C>T (p.Thr2218Ile)
|
|
|
NM_004415.4(DSP):c.665G>C (p.Arg222Pro)
|
rs377749481
|
|
NM_004415.4(DSP):c.667G>T (p.Gly223Cys)
|
rs200806163
|
|
NM_004415.4(DSP):c.6686G>T (p.Arg2229Ile)
|
rs1561702898
|
|
NM_004415.4(DSP):c.6740G>A (p.Gly2247Asp)
|
|
|
NM_004415.4(DSP):c.6744G>C (p.Glu2248Asp)
|
rs1581822997
|
|
NM_004415.4(DSP):c.67G>A (p.Gly23Ser)
|
rs1757993019
|
|
NM_004415.4(DSP):c.6829G>A (p.Ala2277Thr)
|
rs1759548533
|
|
NM_004415.4(DSP):c.682A>G (p.Ile228Val)
|
rs934038992
|
|
NM_004415.4(DSP):c.6851G>A (p.Arg2284Gln)
|
|
|
NM_004415.4(DSP):c.6853C>A (p.Pro2285Thr)
|
rs377085222
|
|
NM_004415.4(DSP):c.685G>A (p.Gly229Ser)
|
rs376185352
|
|
NM_004415.4(DSP):c.685G>T (p.Gly229Cys)
|
|
|
NM_004415.4(DSP):c.6886G>A (p.Ala2296Thr)
|
|
|
NM_004415.4(DSP):c.6892A>G (p.Thr2298Ala)
|
rs1759550667
|
|
NM_004415.4(DSP):c.6901A>G (p.Ile2301Val)
|
|
|
NM_004415.4(DSP):c.6919A>G (p.Asn2307Asp)
|
rs1055504283
|
|
NM_004415.4(DSP):c.6967A>C (p.Ile2323Leu)
|
rs1759554116
|
|
NM_004415.4(DSP):c.6988C>G (p.Leu2330Val)
|
rs1759554701
|
|
NM_004415.4(DSP):c.6992C>G (p.Ser2331Cys)
|
|
|
NM_004415.4(DSP):c.6997G>A (p.Glu2333Lys)
|
rs1490807572
|
|
NM_004415.4(DSP):c.7004C>T (p.Ala2335Val)
|
|
|
NM_004415.4(DSP):c.7016A>G (p.Tyr2339Cys)
|
rs1759555427
|
|
NM_004415.4(DSP):c.7031C>G (p.Thr2344Arg)
|
|
|
NM_004415.4(DSP):c.7031C>T (p.Thr2344Ile)
|
rs746413668
|
|
NM_004415.4(DSP):c.7154G>A (p.Arg2385His)
|
rs1396768987
|
|
NM_004415.4(DSP):c.716A>C (p.Lys239Thr)
|
rs940238260
|
|
NM_004415.4(DSP):c.7179G>T (p.Lys2393Asn)
|
rs1759561425
|
|
NM_004415.4(DSP):c.7213C>T (p.Leu2405Phe)
|
rs774401264
|
|
NM_004415.4(DSP):c.7229A>G (p.Asp2410Gly)
|
rs1759563429
|
|
NM_004415.4(DSP):c.7264del (p.Glu2422fs)
|
rs1759564374
|
|
NM_004415.4(DSP):c.7270C>T (p.Leu2424Phe)
|
|
|
NM_004415.4(DSP):c.7303A>G (p.Lys2435Glu)
|
|
|
NM_004415.4(DSP):c.7305G>C (p.Lys2435Asn)
|
rs1554108998
|
|
NM_004415.4(DSP):c.7312G>A (p.Glu2438Lys)
|
rs1759566407
|
|
NM_004415.4(DSP):c.7312G>C (p.Glu2438Gln)
|
rs1759566407
|
|
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe)
|
rs864309585
|
|
NM_004415.4(DSP):c.732G>C (p.Glu244Asp)
|
rs2113666864
|
|
NM_004415.4(DSP):c.7342G>C (p.Glu2448Gln)
|
rs2113702127
|
|
NM_004415.4(DSP):c.7346A>C (p.Lys2449Thr)
|
rs1581823888
|
|
NM_004415.4(DSP):c.7350G>C (p.Lys2450Asn)
|
rs1561703628
|
|
NM_004415.4(DSP):c.7355A>C (p.Gln2452Pro)
|
rs1759567864
|
|
NM_004415.4(DSP):c.7360C>G (p.Gln2454Glu)
|
rs373890201
|
|
NM_004415.4(DSP):c.7363A>C (p.Thr2455Pro)
|
rs2113702180
|
|
NM_004415.4(DSP):c.7370A>C (p.Gln2457Pro)
|
rs1206306343
|
|
NM_004415.4(DSP):c.7433C>A (p.Ser2478Tyr)
|
rs1759570987
|
|
NM_004415.4(DSP):c.743T>C (p.Ile248Thr)
|
rs1455602530
|
|
NM_004415.4(DSP):c.7489T>A (p.Cys2497Ser)
|
|
|
NM_004415.4(DSP):c.7503_7508del (p.Cys2501_Glu2502del)
|
rs1473818298
|
|
NM_004415.4(DSP):c.7535A>G (p.Asp2512Gly)
|
rs1759575116
|
|
NM_004415.4(DSP):c.7546A>G (p.Arg2516Gly)
|
rs1304859870
|
|
NM_004415.4(DSP):c.7547G>C (p.Arg2516Thr)
|
|
|
NM_004415.4(DSP):c.7555C>A (p.Leu2519Met)
|
rs779145021
|
|
NM_004415.4(DSP):c.7584T>A (p.Tyr2528Ter)
|
rs1759581554
|
|
NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr)
|
rs768564872
|
|
NM_004415.4(DSP):c.7628T>A (p.Phe2543Tyr)
|
|
|
NM_004415.4(DSP):c.7632T>G (p.Phe2544Leu)
|
rs1759584747
|
|
NM_004415.4(DSP):c.7643G>A (p.Arg2548Gln)
|
rs377565339
|
|
NM_004415.4(DSP):c.7643G>C (p.Arg2548Pro)
|
|
|
NM_004415.4(DSP):c.7646C>T (p.Ser2549Phe)
|
|
|
NM_004415.4(DSP):c.7667A>T (p.Gln2556Leu)
|
rs760434412
|
|
NM_004415.4(DSP):c.7685_7687del (p.Ser2562del)
|
rs762495630
|
|
NM_004415.4(DSP):c.7736ATG[1] (p.Asp2580del)
|
rs1759590820
|
|
NM_004415.4(DSP):c.7792A>T (p.Ser2598Cys)
|
rs1320923132
|
|
NM_004415.4(DSP):c.7817G>A (p.Ser2606Asn)
|
rs199597935
|
|
NM_004415.4(DSP):c.7823C>T (p.Ser2608Phe)
|
rs777066674
|
|
NM_004415.4(DSP):c.7833_7841del (p.Asp2611_Leu2613del)
|
rs2113703405
|
|
NM_004415.4(DSP):c.7837C>G (p.Leu2613Val)
|
rs1286275087
|
|
NM_004415.4(DSP):c.7838T>C (p.Leu2613Pro)
|
rs1759599736
|
|
NM_004415.4(DSP):c.7871A>G (p.Asp2624Gly)
|
rs1759602460
|
|
NM_004415.4(DSP):c.7891A>G (p.Ile2631Val)
|
rs1759604036
|
|
NM_004415.4(DSP):c.7900A>G (p.Thr2634Ala)
|
rs373200747
|
|
NM_004415.4(DSP):c.7918_7919dup (p.Ile2641fs)
|
rs1759606062
|
|
NM_004415.4(DSP):c.7919G>A (p.Gly2640Asp)
|
rs1759606289
|
|
NM_004415.4(DSP):c.7931G>C (p.Ser2644Thr)
|
rs1759607288
|
|
NM_004415.4(DSP):c.7940G>T (p.Gly2647Val)
|
rs771407520
|
|
NM_004415.4(DSP):c.7964C>A (p.Ala2655Asp)
|
rs193922671
|
|
NM_004415.4(DSP):c.796A>C (p.Met266Leu)
|
rs1758827543
|
|
NM_004415.4(DSP):c.8001G>C (p.Gln2667His)
|
rs758047603
|
|
NM_004415.4(DSP):c.8005C>T (p.Leu2669=)
|
|
|
NM_004415.4(DSP):c.8018A>T (p.Asp2673Val)
|
|
|
NM_004415.4(DSP):c.8031G>T (p.Gln2677His)
|
rs1759614272
|
|
NM_004415.4(DSP):c.8071G>C (p.Ala2691Pro)
|
rs1006955897
|
|
NM_004415.4(DSP):c.8085C>A (p.Phe2695Leu)
|
rs1759617585
|
|
NM_004415.4(DSP):c.8095G>A (p.Glu2699Lys)
|
|
|
NM_004415.4(DSP):c.8099G>A (p.Gly2700Asp)
|
rs1019638361
|
|
NM_004415.4(DSP):c.8128G>T (p.Ala2710Ser)
|
rs1561705003
|
|
NM_004415.4(DSP):c.8143G>T (p.Glu2715Ter)
|
rs1759621325
|
|
NM_004415.4(DSP):c.8149T>C (p.Trp2717Arg)
|
rs1554109176
|
|
NM_004415.4(DSP):c.8151G>C (p.Trp2717Cys)
|
|
|
NM_004415.4(DSP):c.8156C>A (p.Pro2719Gln)
|
rs1759622362
|
|
NM_004415.4(DSP):c.8198C>T (p.Thr2733Met)
|
rs1561705229
|
|
NM_004415.4(DSP):c.8213A>G (p.Asp2738Gly)
|
rs2113704486
|
|
NM_004415.4(DSP):c.8215C>T (p.Pro2739Ser)
|
|
|
NM_004415.4(DSP):c.8227G>A (p.Gly2743Arg)
|
rs1759627772
|
|
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly)
|
rs1198357388
|
|
NM_004415.4(DSP):c.823A>G (p.Ile275Val)
|
rs2113669262
|
|
NM_004415.4(DSP):c.8240C>T (p.Thr2747Ile)
|
rs1581826021
|
|
NM_004415.4(DSP):c.8249C>G (p.Ala2750Gly)
|
|
|
NM_004415.4(DSP):c.8275C>T (p.Arg2759Cys)
|
rs148254632
|
|
NM_004415.4(DSP):c.8276G>A (p.Arg2759His)
|
rs936541705
|
|
NM_004415.4(DSP):c.8342T>C (p.Leu2781Ser)
|
|
|
NM_004415.4(DSP):c.8343A>T (p.Leu2781Phe)
|
|
|
NM_004415.4(DSP):c.8350T>C (p.Ser2784Pro)
|
rs1240301188
|
|
NM_004415.4(DSP):c.8360A>T (p.Asp2787Val)
|
rs1759637183
|
|
NM_004415.4(DSP):c.8365A>G (p.Ile2789Val)
|
rs397516965
|
|
NM_004415.4(DSP):c.836C>T (p.Thr279Met)
|
rs1758829264
|
|
NM_004415.4(DSP):c.8371C>T (p.Arg2791Cys)
|
rs867430601
|
|
NM_004415.4(DSP):c.8379G>A (p.Met2793Ile)
|
|
|
NM_004415.4(DSP):c.8386G>A (p.Asp2796Asn)
|
|
|
NM_004415.4(DSP):c.8387A>T (p.Asp2796Val)
|
rs888716643
|
|
NM_004415.4(DSP):c.8392A>T (p.Thr2798Ser)
|
rs771976131
|
|
NM_004415.4(DSP):c.839C>G (p.Ser280Cys)
|
rs1758829462
|
|
NM_004415.4(DSP):c.8416G>A (p.Ala2806Thr)
|
rs1005621727
|
|
NM_004415.4(DSP):c.8422G>A (p.Val2808Met)
|
rs755395389
|
|
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
|
|
|
NM_004415.4(DSP):c.8429C>T (p.Ser2810Phe)
|
rs1759640944
|
|
NM_004415.4(DSP):c.8441C>T (p.Pro2814Leu)
|
rs756310918
|
|
NM_004415.4(DSP):c.8453A>T (p.Asn2818Ile)
|
|
|
NM_004415.4(DSP):c.8455A>G (p.Met2819Val)
|
rs138329459
|
|
NM_004415.4(DSP):c.8464G>C (p.Ala2822Pro)
|
|
|
NM_004415.4(DSP):c.8472_8495del (p.2827SGSR[3])
|
rs1267022420
|
|
NM_004415.4(DSP):c.8482G>T (p.Gly2828Cys)
|
|
|
NM_004415.4(DSP):c.8488C>A (p.Arg2830Ser)
|
rs1354218745
|
|
NM_004415.4(DSP):c.8493_8504dup (p.2827_2830SGSR[6])
|
rs748194022
|
|
NM_004415.4(DSP):c.8495G>C (p.Gly2832Ala)
|
rs397516970
|
|
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[3] (p.2827SGSR[6])
|
rs397516971
|
|
NM_004415.4(DSP):c.8498_8499insCCGCTCCGGATC (p.Arg2846_Arg2847insSerGlySerArg)
|
|
|
NM_004415.4(DSP):c.8507G>C (p.Gly2836Ala)
|
|
|
NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=)
|
rs1561706189
|
|
NM_004415.4(DSP):c.8509T>A (p.Ser2837Thr)
|
rs1759649093
|
|
NM_004415.4(DSP):c.850A>G (p.Met284Val)
|
rs747040221
|
|
NM_004415.4(DSP):c.8513G>A (p.Arg2838His)
|
rs930055191
|
|
NM_004415.4(DSP):c.8516C>G (p.Ser2839Cys)
|
rs750438076
|
|
NM_004415.4(DSP):c.8519G>A (p.Gly2840Glu)
|
rs1312581264
|
|
NM_004415.4(DSP):c.8525G>A (p.Arg2842His)
|
|
|
NM_004415.4(DSP):c.8525G>T (p.Arg2842Leu)
|
|
|
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val)
|
rs374137476
|
|
NM_004415.4(DSP):c.8537G>A (p.Arg2846Gln)
|
rs780766289
|
|
NM_004415.4(DSP):c.8558C>T (p.Thr2853Ile)
|
|
|
NM_004415.4(DSP):c.8611C>T (p.His2871Tyr)
|
|
|
NM_004415.4(DSP):c.89T>C (p.Val30Ala)
|
rs1757994526
|
|
NM_004415.4(DSP):c.913A>G (p.Ile305Val)
|
rs17604693
|
|
NM_004415.4(DSP):c.941T>C (p.Ile314Thr)
|
rs2113670908
|
|
NM_004415.4(DSP):c.97G>A (p.Gly33Ser)
|
rs1581777550
|
|
NM_004415.4(DSP):c.984G>C (p.Lys328Asn)
|
|
|
NM_004415.4(DSP):c.992A>G (p.Gln331Arg)
|
rs746517026
|
|
NM_005159.5(ACTC1):c.*1G>A
|
|
|
NM_005159.5(ACTC1):c.*1G>T
|
rs1226132498
|
|
NM_005159.5(ACTC1):c.-14G>C
|
rs2140433368
|
|
NM_005159.5(ACTC1):c.-1G>A
|
rs748380799
|
|
NM_005159.5(ACTC1):c.1038C>T (p.Ser346=)
|
rs748062476
|
|
NM_005159.5(ACTC1):c.1078A>G (p.Ser360Gly)
|
rs1891681614
|
|
NM_005159.5(ACTC1):c.1086_1088dup (p.Glu363dup)
|
rs2140428968
|
|
NM_005159.5(ACTC1):c.1093G>A (p.Asp365Asn)
|
rs2140428952
|
|
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr)
|
rs730880407
|
|
NM_005159.5(ACTC1):c.129+3A>G
|
rs763452221
|
|
NM_005159.5(ACTC1):c.130-11dup
|
rs2140432284
|
|
NM_005159.5(ACTC1):c.130-13T>A
|
rs1891753477
|
|
NM_005159.5(ACTC1):c.166G>A (p.Val56Ile)
|
rs944740404
|
|
NM_005159.5(ACTC1):c.178G>A (p.Ala60Thr)
|
rs1555418912
|
|
NM_005159.5(ACTC1):c.278A>G (p.Tyr93Cys)
|
rs1595761404
|
|
NM_005159.5(ACTC1):c.372C>G (p.Ile124Met)
|
rs397517061
|
|
NM_005159.5(ACTC1):c.377T>G (p.Phe126Cys)
|
rs1891746032
|
|
NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser)
|
rs1595761325
|
|
NM_005159.5(ACTC1):c.398C>T (p.Ala133Val)
|
rs1257864393
|
|
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr)
|
rs730880409
|
|
NM_005159.5(ACTC1):c.504T>A (p.Tyr168Ter)
|
rs2140430970
|
|
NM_005159.5(ACTC1):c.523dup (p.His175fs)
|
rs730880389
|
|
NM_005159.5(ACTC1):c.529A>G (p.Ile177Val)
|
rs730880392
|
|
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe)
|
rs1891723828
|
|
NM_005159.5(ACTC1):c.617-7T>A
|
rs750536667
|
|
NM_005159.5(ACTC1):c.631_642del (p.Val211_Ile214del)
|
|
|
NM_005159.5(ACTC1):c.769T>C (p.Phe257Leu)
|
rs730880399
|
|
NM_005159.5(ACTC1):c.802T>C (p.Phe268Leu)
|
rs2140430478
|
|
NM_005159.5(ACTC1):c.809-14_809-11delinsAA
|
|
|
NM_005159.5(ACTC1):c.809-1G>A
|
rs1566967122
|
|
NM_005159.5(ACTC1):c.812T>C (p.Met271Thr)
|
rs730880401
|
|
NM_005159.5(ACTC1):c.839C>G (p.Thr280Ser)
|
rs1566967118
|
|
NM_005159.5(ACTC1):c.855G>A (p.Met285Ile)
|
|
|
NM_005159.5(ACTC1):c.990+6G>C
|
|
|
NM_005159.5(ACTC1):c.997G>T (p.Ala333Ser)
|
rs267606629
|
|
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)
|
rs80338938
|
|
NM_005572.4(LMNA):c.1711C>T (p.Arg571Cys)
|
rs80338938
|
|
NM_005572.4(LMNA):c.1711_1712delinsTC (p.Arg571Ser)
|
rs794728612
|
|
NM_006393.3(NEBL):c.72AGA[1] (p.Glu25del)
|
rs794729080
|
|
NM_007078.3(LDB3):c.-1C>A
|
rs1564626012
|
|
NM_007078.3(LDB3):c.1305_1306delinsCC (p.Ala436Pro)
|
rs2132481671
|
|
NM_007078.3(LDB3):c.1353del (p.Thr452fs)
|
rs2132481963
|
|
NM_007078.3(LDB3):c.1609del (p.Gln537fs)
|
rs727503129
|
|
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His)
|
rs727503131
|
|
NM_007078.3(LDB3):c.1887G>A (p.Trp629Ter)
|
rs1846967202
|
|
NM_007078.3(LDB3):c.1892C>A (p.Thr631Asn)
|
rs1564658947
|
|
NM_007078.3(LDB3):c.1895C>A (p.Thr632Asn)
|
rs1195333947
|
|
NM_007078.3(LDB3):c.1898G>C (p.Cys633Ser)
|
rs2132487189
|
|
NM_007078.3(LDB3):c.2009A>G (p.His670Arg)
|
rs925120006
|
|
NM_007078.3(LDB3):c.218G>C (p.Ser73Thr)
|
rs1844992525
|
|
NM_007078.3(LDB3):c.36C>A (p.Pro12=)
|
rs1564626136
|
|
NM_007078.3(LDB3):c.400G>A (p.Gly134Ser)
|
rs2132371398
|
|
NM_007078.3(LDB3):c.5C>A (p.Ser2Tyr)
|
rs1564626030
|
|
NM_007078.3(LDB3):c.915G>A (p.Ala305=)
|
rs753526743
|
|
NM_014000.3(VCL):c.134_135inv (p.Ala45Gly)
|
|
|
NM_014000.3(VCL):c.140T>G (p.Val47Gly)
|
rs2136218338
|
|
NM_014000.3(VCL):c.1521C>T (p.Pro507=)
|
rs1564529609
|
|
NM_014000.3(VCL):c.169-10delinsTG
|
rs1554814892
|
|
NM_014000.3(VCL):c.1873-7C>T
|
|
|
NM_014000.3(VCL):c.1888G>A (p.Ala630Thr)
|
rs727503739
|
|
NM_014000.3(VCL):c.2143G>A (p.Glu715Lys)
|
rs1022329091
|
|
NM_014000.3(VCL):c.2407G>A (p.Ala803Thr)
|
rs754294941
|
|
NM_014000.3(VCL):c.2539C>G (p.Pro847Ala)
|
|
|
NM_014000.3(VCL):c.3350G>A (p.Arg1117Gln)
|
|
|
NM_014000.3(VCL):c.486G>C (p.Lys162Asn)
|
rs1841656671
|
|
NM_014000.3(VCL):c.500G>A (p.Gly167Glu)
|
rs1564523552
|
|
NM_014000.3(VCL):c.626T>A (p.Met209Lys)
|
rs751243981
|
|
NM_014000.3(VCL):c.963del (p.Leu322fs)
|
rs1564526327
|
|
NM_014391.3(ANKRD1):c.646G>C (p.Asp216His)
|
rs1416570961
|
|
NM_014391.3(ANKRD1):c.796A>G (p.Lys266Glu)
|
rs759544911
|
|
NM_016203.4(PRKAG2):c.-3G>A
|
|
|
NM_016203.4(PRKAG2):c.-6AG[1]
|
rs1286229827
|
|
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr)
|
rs730880978
|
|
NM_016203.4(PRKAG2):c.1006-5T>A
|
rs1807870439
|
|
NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys)
|
rs2151024095
|
|
NM_016203.4(PRKAG2):c.103G>T (p.Val35Leu)
|
rs778222674
|
|
NM_016203.4(PRKAG2):c.1070C>T (p.Thr357Ile)
|
rs1227002684
|
|
NM_016203.4(PRKAG2):c.1102G>A (p.Ala368Thr)
|
rs769212614
|
|
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser)
|
rs769212614
|
|
NM_016203.4(PRKAG2):c.114+3G>A
|
rs2151920361
|
|
NM_016203.4(PRKAG2):c.1184C>T (p.Ala395Val)
|
rs1806859703
|
|
NM_016203.4(PRKAG2):c.1192A>G (p.Ile398Val)
|
rs2151008313
|
|
NM_016203.4(PRKAG2):c.1204A>G (p.Lys402Glu)
|
rs1806853581
|
|
NM_016203.4(PRKAG2):c.1246C>T (p.Pro416Ser)
|
|
|
NM_016203.4(PRKAG2):c.125C>T (p.Ser42Phe)
|
|
|
NM_016203.4(PRKAG2):c.1303A>G (p.Asn435Asp)
|
rs1806116546
|
|
NM_016203.4(PRKAG2):c.1319A>G (p.His440Arg)
|
rs1806111411
|
|
NM_016203.4(PRKAG2):c.1328C>T (p.Thr443Ile)
|
|
|
NM_016203.4(PRKAG2):c.1333A>T (p.Ile445Phe)
|
rs1344209675
|
|
NM_016203.4(PRKAG2):c.1357G>T (p.Val453Leu)
|
|
|
NM_016203.4(PRKAG2):c.1366C>G (p.Arg456Gly)
|
rs779098740
|
|
NM_016203.4(PRKAG2):c.1394A>G (p.Glu465Gly)
|
|
|
NM_016203.4(PRKAG2):c.1407_1408delinsGA (p.Val470Ile)
|
rs1806009426
|
|
NM_016203.4(PRKAG2):c.1437+1G>A
|
rs2150993817
|
|
NM_016203.4(PRKAG2):c.1466A>G (p.Asn489Ser)
|
rs1805707497
|
|
NM_016203.4(PRKAG2):c.1535A>T (p.Asn512Ile)
|
rs766113743
|
|
NM_016203.4(PRKAG2):c.1555A>G (p.Thr519Ala)
|
rs1060503024
|
|
NM_016203.4(PRKAG2):c.1561G>A (p.Val521Met)
|
rs767550594
|
|
NM_016203.4(PRKAG2):c.1587C>G (p.Val529=)
|
rs1563132006
|
|
NM_016203.4(PRKAG2):c.1615G>A (p.Asp539Asn)
|
rs1804709862
|
|
NM_016203.4(PRKAG2):c.1618A>G (p.Ser540Gly)
|
rs1804709282
|
|
NM_016203.4(PRKAG2):c.1630A>T (p.Ile544Phe)
|
|
|
NM_016203.4(PRKAG2):c.1658C>A (p.Ala553Asp)
|
rs2150971447
|
|
NM_016203.4(PRKAG2):c.1669A>C (p.Thr557Pro)
|
rs2150971355
|
|
NM_016203.4(PRKAG2):c.1676C>T (p.Ala559Val)
|
rs1804693201
|
|
NM_016203.4(PRKAG2):c.1688A>G (p.Gln563Arg)
|
rs1803937738
|
|
NM_016203.4(PRKAG2):c.1705dup (p.Glu569fs)
|
rs1803935878
|
|
NM_016203.4(PRKAG2):c.173A>T (p.His58Leu)
|
rs1289539756
|
|
NM_016203.4(PRKAG2):c.187G>A (p.Val63Met)
|
rs1288414866
|
|
NM_016203.4(PRKAG2):c.196C>T (p.Pro66Ser)
|
rs764915841
|
|
NM_016203.4(PRKAG2):c.200T>G (p.Phe67Cys)
|
rs2151803877
|
|
NM_016203.4(PRKAG2):c.206C>G (p.Pro69Arg)
|
|
|
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala)
|
rs199963585
|
|
NM_016203.4(PRKAG2):c.224G>T (p.Gly75Val)
|
rs199963585
|
|
NM_016203.4(PRKAG2):c.250C>A (p.Arg84=)
|
rs61746358
|
|
NM_016203.4(PRKAG2):c.250C>G (p.Arg84Gly)
|
rs61746358
|
|
NM_016203.4(PRKAG2):c.26A>T (p.Lys9Met)
|
rs574029693
|
|
NM_016203.4(PRKAG2):c.286A>C (p.Lys96Gln)
|
rs2076656799
|
|
NM_016203.4(PRKAG2):c.295C>T (p.Pro99Ser)
|
rs773748344
|
|
NM_016203.4(PRKAG2):c.311C>A (p.Thr104Asn)
|
rs2076655530
|
|
NM_016203.4(PRKAG2):c.326_328del (p.Ser109del)
|
rs2076654551
|
|
NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg)
|
rs375174733
|
|
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)
|
rs375174733
|
|
NM_016203.4(PRKAG2):c.358C>T (p.Arg120Cys)
|
rs763144065
|
|
NM_016203.4(PRKAG2):c.359G>A (p.Arg120His)
|
rs775756069
|
|
NM_016203.4(PRKAG2):c.392C>G (p.Ser131Cys)
|
|
|
NM_016203.4(PRKAG2):c.443G>C (p.Arg148Thr)
|
rs2076649283
|
|
NM_016203.4(PRKAG2):c.447T>A (p.Phe149Leu)
|
rs1490431197
|
|
NM_016203.4(PRKAG2):c.452C>G (p.Ser151Cys)
|
|
|
NM_016203.4(PRKAG2):c.458C>G (p.Ser153Cys)
|
rs1586486518
|
|
NM_016203.4(PRKAG2):c.469_471dup (p.Ser157dup)
|
rs1832797348
|
|
NM_016203.4(PRKAG2):c.482C>G (p.Ser161Cys)
|
rs748557485
|
|
NM_016203.4(PRKAG2):c.485C>G (p.Ser162Cys)
|
|
|
NM_016203.4(PRKAG2):c.520A>G (p.Thr174Ala)
|
rs1832789600
|
|
NM_016203.4(PRKAG2):c.524T>G (p.Phe175Cys)
|
rs2151477251
|
|
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys)
|
rs397517273
|
|
NM_016203.4(PRKAG2):c.550C>T (p.Pro184Ser)
|
rs545533727
|
|
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp)
|
rs200392688
|
|
NM_016203.4(PRKAG2):c.557G>T (p.Arg186Leu)
|
rs145006140
|
|
NM_016203.4(PRKAG2):c.562G>A (p.Glu188Lys)
|
rs772303730
|
|
NM_016203.4(PRKAG2):c.584C>T (p.Ser195Phe)
|
rs750592417
|
|
NM_016203.4(PRKAG2):c.592C>G (p.Pro198Ala)
|
rs753859556
|
|
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs)
|
rs397517275
|
|
NM_016203.4(PRKAG2):c.607_625del (p.Arg203fs)
|
rs2151476744
|
|
NM_016203.4(PRKAG2):c.608G>A (p.Arg203Lys)
|
|
|
NM_016203.4(PRKAG2):c.629A>T (p.Gln210Leu)
|
rs1585679990
|
|
NM_016203.4(PRKAG2):c.661A>G (p.Thr221Ala)
|
rs1832761436
|
|
NM_016203.4(PRKAG2):c.667T>A (p.Tyr223Asn)
|
rs730880974
|
|
NM_016203.4(PRKAG2):c.679A>C (p.Lys227Gln)
|
rs766460601
|
|
NM_016203.4(PRKAG2):c.684+1G>A
|
rs1457532924
|
|
NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val)
|
rs1554507908
|
|
NM_016203.4(PRKAG2):c.695C>T (p.Ala232Val)
|
rs1338523761
|
|
NM_016203.4(PRKAG2):c.706G>C (p.Gly236Arg)
|
rs1183522324
|
|
NM_016203.4(PRKAG2):c.725T>A (p.Met242Lys)
|
|
|
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)
|
rs543247293
|
|
NM_016203.4(PRKAG2):c.751G>T (p.Glu251Ter)
|
rs796699703
|
|
NM_016203.4(PRKAG2):c.754+13dup
|
rs747490039
|
|
NM_016203.4(PRKAG2):c.757G>A (p.Val253Ile)
|
rs1814251529
|
|
NM_016203.4(PRKAG2):c.758T>C (p.Val253Ala)
|
|
|
NM_016203.4(PRKAG2):c.767C>T (p.Ser256Leu)
|
rs2151134988
|
|
NM_016203.4(PRKAG2):c.787C>T (p.Arg263Ter)
|
rs886062100
|
|
NM_016203.4(PRKAG2):c.790T>A (p.Phe264Ile)
|
rs1814241368
|
|
NM_016203.4(PRKAG2):c.851A>C (p.Asp284Ala)
|
|
|
NM_016203.4(PRKAG2):c.864A>C (p.Gln288His)
|
rs1814227620
|
|
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)
|
rs397517282
|
|
NM_016203.4(PRKAG2):c.898G>A (p.Gly300Ser)
|
|
|
NM_016203.4(PRKAG2):c.90G>T (p.Arg30Ser)
|
rs1268890991
|
|
NM_016203.4(PRKAG2):c.928A>G (p.Lys310Glu)
|
|
|
NM_016203.4(PRKAG2):c.938G>A (p.Ser313Asn)
|
rs748873027
|
|
NM_016599.5(MYOZ2):c.*4G>T
|
rs1561137822
|
|
NM_016599.5(MYOZ2):c.106G>C (p.Val36Leu)
|
rs763449906
|
|
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg)
|
rs76757102
|
|
NM_016599.5(MYOZ2):c.302C>A (p.Ser101Ter)
|
rs138061447
|
|
NM_016599.5(MYOZ2):c.336A>G (p.Pro112=)
|
rs774333721
|
|
NM_016599.5(MYOZ2):c.439T>C (p.Tyr147His)
|
rs141181373
|
|
NM_016599.5(MYOZ2):c.591del (p.Ala198fs)
|
rs1742285153
|
|
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp)
|
rs372215131
|
|
NM_017636.4(TRPM4):c.1039C>G (p.Leu347Val)
|
rs1471303873
|
|
NM_017636.4(TRPM4):c.1496G>A (p.Arg499Gln)
|
rs2122936347
|
|
NM_020297.4(ABCC9):c.1011+1G>A
|
rs1565477732
|
|
NM_020297.4(ABCC9):c.1012-6G>A
|
rs1003995698
|
|
NM_020297.4(ABCC9):c.143-13CT[2]
|
rs777987930
|
|
NM_020297.4(ABCC9):c.1841T>C (p.Ile614Thr)
|
rs1946960010
|
|
NM_020297.4(ABCC9):c.2583T>A (p.Asp861Glu)
|
rs1565740446
|
|
NM_020297.4(ABCC9):c.2797G>A (p.Glu933Lys)
|
rs1565735162
|
|
NM_020297.4(ABCC9):c.323C>G (p.Ala108Gly)
|
rs1565491519
|
|
NM_020297.4(ABCC9):c.3316-3T>C
|
|
|
NM_020297.4(ABCC9):c.3863T>C (p.Met1288Thr)
|
rs772795759
|
|
NM_020297.4(ABCC9):c.4512+746_4512+747insT
|
rs761784169
|
|
NM_020297.4(ABCC9):c.4512+814C>T
|
rs387906805
|
|
NM_020297.4(ABCC9):c.817-14_817-4del
|
rs774857795
|
|
NM_024334.3(TMEM43):c.-15G>A
|
rs1397752021
|
|
NM_024334.3(TMEM43):c.-3A>G
|
rs763829810
|
|
NM_024334.3(TMEM43):c.1005C>A (p.Asp335Glu)
|
rs2124997146
|
|
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu)
|
rs17856369
|
|
NM_024334.3(TMEM43):c.1015_1016dup (p.Arg341fs)
|
rs1695246708
|
|
NM_024334.3(TMEM43):c.1019T>C (p.Phe340Ser)
|
rs1559363663
|
|
NM_024334.3(TMEM43):c.1031T>G (p.Val344Gly)
|
|
|
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val)
|
rs769793469
|
|
NM_024334.3(TMEM43):c.1061G>T (p.Cys354Phe)
|
rs187262922
|
|
NM_024334.3(TMEM43):c.1072T>C (p.Ser358Pro)
|
rs1559363695
|
|
NM_024334.3(TMEM43):c.108G>A (p.Met36Ile)
|
rs1695064905
|
|
NM_024334.3(TMEM43):c.109T>C (p.Phe37Leu)
|
rs1695064937
|
|
NM_024334.3(TMEM43):c.110T>G (p.Phe37Cys)
|
rs1695064977
|
|
NM_024334.3(TMEM43):c.1120del (p.Leu374fs)
|
rs1695249540
|
|
NM_024334.3(TMEM43):c.1123T>C (p.Trp375Arg)
|
rs1695249790
|
|
NM_024334.3(TMEM43):c.112G>A (p.Val38Met)
|
rs977468112
|
|
NM_024334.3(TMEM43):c.1135A>G (p.Ile379Val)
|
rs759390824
|
|
NM_024334.3(TMEM43):c.1139C>G (p.Ala380Gly)
|
|
|
NM_024334.3(TMEM43):c.1149_1150delinsTA (p.Leu384Ile)
|
rs1695250554
|
|
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)
|
rs193922706
|
|
NM_024334.3(TMEM43):c.1150C>T (p.Leu384Phe)
|
rs193922706
|
|
NM_024334.3(TMEM43):c.1159A>G (p.Ile387Val)
|
rs541565919
|
|
NM_024334.3(TMEM43):c.1168G>T (p.Ala390Ser)
|
rs1695251084
|
|
NM_024334.3(TMEM43):c.1171C>T (p.Arg391Trp)
|
rs1574942204
|
|
NM_024334.3(TMEM43):c.1184C>A (p.Pro395Gln)
|
rs1169613716
|
|
NM_024334.3(TMEM43):c.1187C>T (p.Ala396Val)
|
rs1339511658
|
|
NM_024334.3(TMEM43):c.1198G>T (p.Glu400Ter)
|
rs1252529536
|
|
NM_024334.3(TMEM43):c.12+1G>A
|
rs1239667599
|
|
NM_024334.3(TMEM43):c.13-1G>C
|
rs2124985459
|
|
NM_024334.3(TMEM43):c.130del (p.Leu44fs)
|
rs2124985708
|
|
NM_024334.3(TMEM43):c.133C>T (p.Leu45Phe)
|
|
|
NM_024334.3(TMEM43):c.143A>C (p.Tyr48Ser)
|
rs1553602871
|
|
NM_024334.3(TMEM43):c.162+1G>A
|
rs1695065907
|
|
NM_024334.3(TMEM43):c.162G>C (p.Glu54Asp)
|
rs746126153
|
|
NM_024334.3(TMEM43):c.169G>T (p.Ala57Ser)
|
rs151010429
|
|
NM_024334.3(TMEM43):c.173T>G (p.Leu58Trp)
|
|
|
NM_024334.3(TMEM43):c.184A>G (p.Thr62Ala)
|
|
|
NM_024334.3(TMEM43):c.185C>T (p.Thr62Ile)
|
|
|
NM_024334.3(TMEM43):c.193G>T (p.Ala65Ser)
|
rs1695084511
|
|
NM_024334.3(TMEM43):c.209T>C (p.Leu70Pro)
|
rs1695084924
|
|
NM_024334.3(TMEM43):c.220C>T (p.Pro74Ser)
|
rs1695085245
|
|
NM_024334.3(TMEM43):c.227del (p.Ser76fs)
|
|
|
NM_024334.3(TMEM43):c.238G>C (p.Val80Leu)
|
rs2124987038
|
|
NM_024334.3(TMEM43):c.23C>A (p.Thr8Asn)
|
|
|
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu)
|
rs771454768
|
|
NM_024334.3(TMEM43):c.25A>C (p.Ser9Arg)
|
|
|
NM_024334.3(TMEM43):c.26G>C (p.Ser9Thr)
|
rs1695062743
|
|
NM_024334.3(TMEM43):c.281C>T (p.Ala94Val)
|
|
|
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln)
|
rs748343919
|
|
NM_024334.3(TMEM43):c.296A>C (p.Lys99Thr)
|
|
|
NM_024334.3(TMEM43):c.298-5T>A
|
rs1027914711
|
|
NM_024334.3(TMEM43):c.298-7T>A
|
rs1695095938
|
|
NM_024334.3(TMEM43):c.2T>A (p.Met1Lys)
|
rs765619239
|
|
NM_024334.3(TMEM43):c.304T>G (p.Ser102Ala)
|
|
|
NM_024334.3(TMEM43):c.316T>C (p.Tyr106His)
|
rs1695096147
|
|
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly)
|
rs201085402
|
|
NM_024334.3(TMEM43):c.322G>A (p.Val108Ile)
|
rs2124987801
|
|
NM_024334.3(TMEM43):c.332C>T (p.Pro111Leu)
|
|
|
NM_024334.3(TMEM43):c.349A>T (p.Arg117Trp)
|
rs1695096953
|
|
NM_024334.3(TMEM43):c.362T>C (p.Met121Thr)
|
rs1286177938
|
|
NM_024334.3(TMEM43):c.362T>G (p.Met121Arg)
|
rs1286177938
|
|
NM_024334.3(TMEM43):c.371G>A (p.Trp124Ter)
|
rs2124987915
|
|
NM_024334.3(TMEM43):c.392+1G>T
|
rs1559360791
|
|
NM_024334.3(TMEM43):c.393-2A>C
|
|
|
NM_024334.3(TMEM43):c.404A>C (p.Glu135Ala)
|
rs2124988762
|
|
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del)
|
rs746639451
|
|
NM_024334.3(TMEM43):c.421A>G (p.Lys141Glu)
|
|
|
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln)
|
rs145619906
|
|
NM_024334.3(TMEM43):c.42T>A (p.His14Gln)
|
|
|
NM_024334.3(TMEM43):c.437C>T (p.Ser146Phe)
|
rs1053499435
|
|
NM_024334.3(TMEM43):c.440A>G (p.Tyr147Cys)
|
rs766312977
|
|
NM_024334.3(TMEM43):c.446C>T (p.Thr149Ile)
|
rs1695115690
|
|
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu)
|
rs1369869806
|
|
NM_024334.3(TMEM43):c.463A>G (p.Ile155Val)
|
rs1695115973
|
|
NM_024334.3(TMEM43):c.485A>G (p.Asp162Gly)
|
rs1312639832
|
|
NM_024334.3(TMEM43):c.48A>C (p.Lys16Asn)
|
rs1695063356
|
|
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp)
|
rs949064136
|
|
NM_024334.3(TMEM43):c.496G>C (p.Gly166Arg)
|
rs1354385104
|
|
NM_024334.3(TMEM43):c.499C>G (p.His167Asp)
|
rs1553603052
|
|
NM_024334.3(TMEM43):c.507C>G (p.Asn169Lys)
|
rs1190919354
|
|
NM_024334.3(TMEM43):c.50T>C (p.Val17Ala)
|
rs1695063437
|
|
NM_024334.3(TMEM43):c.526G>A (p.Glu176Lys)
|
|
|
NM_024334.3(TMEM43):c.527A>G (p.Glu176Gly)
|
|
|
NM_024334.3(TMEM43):c.528G>C (p.Glu176Asp)
|
rs2124989901
|
|
NM_024334.3(TMEM43):c.544G>A (p.Ala182Thr)
|
rs757013233
|
|
NM_024334.3(TMEM43):c.548C>T (p.Pro183Leu)
|
rs746116143
|
|
NM_024334.3(TMEM43):c.556C>T (p.Gln186Ter)
|
rs1553603107
|
|
NM_024334.3(TMEM43):c.568T>A (p.Phe190Ile)
|
rs768718054
|
|
NM_024334.3(TMEM43):c.583+6T>A
|
|
|
NM_024334.3(TMEM43):c.584-14del
|
rs1695143759
|
|
NM_024334.3(TMEM43):c.584G>A (p.Gly195Asp)
|
rs1458517961
|
|
NM_024334.3(TMEM43):c.609del (p.Phe203fs)
|
rs1313993263
|
|
NM_024334.3(TMEM43):c.626C>T (p.Ser209Phe)
|
rs1553603146
|
|
NM_024334.3(TMEM43):c.631C>G (p.Leu211Val)
|
rs1209223184
|
|
NM_024334.3(TMEM43):c.640C>G (p.Pro214Ala)
|
rs1574939150
|
|
NM_024334.3(TMEM43):c.645T>G (p.His215Gln)
|
rs370782259
|
|
NM_024334.3(TMEM43):c.646G>T (p.Val216Leu)
|
rs143735210
|
|
NM_024334.3(TMEM43):c.649G>A (p.Asp217Asn)
|
rs2124990891
|
|
NM_024334.3(TMEM43):c.654C>G (p.Ile218Met)
|
rs755270250
|
|
NM_024334.3(TMEM43):c.658C>G (p.Arg220Gly)
|
|
|
NM_024334.3(TMEM43):c.670T>C (p.Phe224Leu)
|
rs1695146244
|
|
NM_024334.3(TMEM43):c.675C>G (p.Phe225Leu)
|
rs1559361776
|
|
NM_024334.3(TMEM43):c.679C>T (p.His227Tyr)
|
rs201460674
|
|
NM_024334.3(TMEM43):c.682A>G (p.Ser228Gly)
|
|
|
NM_024334.3(TMEM43):c.682A>T (p.Ser228Cys)
|
rs776147178
|
|
NM_024334.3(TMEM43):c.699T>A (p.Tyr233Ter)
|
rs1321317891
|
|
NM_024334.3(TMEM43):c.706-4C>G
|
rs760936714
|
|
NM_024334.3(TMEM43):c.718C>A (p.Arg240Ser)
|
rs367910936
|
|
NM_024334.3(TMEM43):c.732del (p.Tyr245fs)
|
|
|
NM_024334.3(TMEM43):c.737C>T (p.Ala246Val)
|
|
|
NM_024334.3(TMEM43):c.743T>C (p.Leu248Pro)
|
rs774356401
|
|
NM_024334.3(TMEM43):c.749dup (p.Asp251fs)
|
rs1695151947
|
|
NM_024334.3(TMEM43):c.772G>C (p.Ala258Pro)
|
|
|
NM_024334.3(TMEM43):c.781-2A>G
|
rs1198392753
|
|
NM_024334.3(TMEM43):c.781-3C>G
|
|
|
NM_024334.3(TMEM43):c.781G>A (p.Val261Ile)
|
rs1695161234
|
|
NM_024334.3(TMEM43):c.784A>C (p.Thr262Pro)
|
rs2124991955
|
|
NM_024334.3(TMEM43):c.788_789del (p.Val263fs)
|
rs1489814713
|
|
NM_024334.3(TMEM43):c.793G>A (p.Ala265Thr)
|
|
|
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln)
|
rs769969149
|
|
NM_024334.3(TMEM43):c.822_824del (p.Phe275del)
|
rs1695162181
|
|
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg)
|
rs1427535931
|
|
NM_024334.3(TMEM43):c.839G>A (p.Gly280Glu)
|
rs1559362201
|
|
NM_024334.3(TMEM43):c.852_853delinsAA (p.Leu285Ile)
|
rs1695163023
|
|
NM_024334.3(TMEM43):c.853C>T (p.Leu285Phe)
|
rs186530498
|
|
NM_024334.3(TMEM43):c.86T>C (p.Leu29Pro)
|
rs1695064359
|
|
NM_024334.3(TMEM43):c.882+3G>C
|
|
|
NM_024334.3(TMEM43):c.883-6C>G
|
rs2124995129
|
|
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile)
|
rs990243563
|
|
NM_024334.3(TMEM43):c.892C>G (p.His298Asp)
|
rs1559363073
|
|
NM_024334.3(TMEM43):c.893A>C (p.His298Pro)
|
rs1285837389
|
|
NM_024334.3(TMEM43):c.898G>T (p.Glu300Ter)
|
rs746029667
|
|
NM_024334.3(TMEM43):c.914C>A (p.Ser305Tyr)
|
rs777277570
|
|
NM_024334.3(TMEM43):c.917_918delinsCT (p.Met306Thr)
|
rs1553603453
|
|
NM_024334.3(TMEM43):c.929G>T (p.Gly310Val)
|
rs2124995252
|
|
NM_024334.3(TMEM43):c.946T>A (p.Trp316Arg)
|
|
|
NM_024334.3(TMEM43):c.964G>A (p.Gly322Ser)
|
rs1231932407
|
|
NM_024334.3(TMEM43):c.970A>G (p.Asn324Asp)
|
rs1365389365
|
|
NM_024334.3(TMEM43):c.994A>G (p.Thr332Ala)
|
rs2124995399
|
|
NM_024334.3(TMEM43):c.995C>A (p.Thr332Asn)
|
rs1695218764
|
|
NM_024334.3(TMEM43):c.995C>T (p.Thr332Ile)
|
rs1695218764
|
|
NM_024422.6(DSC2):c.*3G>T
|
rs1239137048
|
|
NM_024422.6(DSC2):c.-4C>T
|
|
|
NM_024422.6(DSC2):c.-6C>T
|
rs1987979751
|
|
NM_024422.6(DSC2):c.1037A>T (p.Asp346Val)
|
rs1567978310
|
|
NM_024422.6(DSC2):c.1040A>G (p.Asp347Gly)
|
rs2144821231
|
|
NM_024422.6(DSC2):c.1057C>G (p.Pro353Ala)
|
rs999869714
|
|
NM_024422.6(DSC2):c.1077+2T>G
|
rs397517389
|
|
NM_024422.6(DSC2):c.1084A>T (p.Thr362Ser)
|
rs1428685920
|
|
NM_024422.6(DSC2):c.1111G>T (p.Val371Leu)
|
rs1252791235
|
|
NM_024422.6(DSC2):c.1112T>C (p.Val371Ala)
|
rs772863598
|
|
NM_024422.6(DSC2):c.1122_1123insAA (p.Arg375fs)
|
rs2144819390
|
|
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly)
|
rs794728075
|
|
NM_024422.6(DSC2):c.1157C>G (p.Thr386Ser)
|
rs1567977932
|
|
NM_024422.6(DSC2):c.1163A>T (p.Asn388Ile)
|
rs587782937
|
|
NM_024422.6(DSC2):c.118C>A (p.Pro40Thr)
|
|
|
NM_024422.6(DSC2):c.1210T>G (p.Phe404Val)
|
rs1987247302
|
|
NM_024422.6(DSC2):c.1213A>T (p.Lys405Ter)
|
rs1023394201
|
|
NM_024422.6(DSC2):c.1215A>T (p.Lys405Asn)
|
rs781472939
|
|
NM_024422.6(DSC2):c.121T>C (p.Ser41Pro)
|
rs2144850316
|
|
NM_024422.6(DSC2):c.122C>T (p.Ser41Phe)
|
|
|
NM_024422.6(DSC2):c.1232A>G (p.Lys411Arg)
|
rs1567977831
|
|
NM_024422.6(DSC2):c.1239T>A (p.Asn413Lys)
|
rs765511398
|
|
NM_024422.6(DSC2):c.1263+5G>A
|
rs1329734211
|
|
NM_024422.6(DSC2):c.1276G>A (p.Glu426Lys)
|
rs794728076
|
|
NM_024422.6(DSC2):c.1292T>C (p.Met431Thr)
|
rs766923814
|
|
NM_024422.6(DSC2):c.1307G>A (p.Gly436Asp)
|
rs763981974
|
|
NM_024422.6(DSC2):c.1307G>C (p.Gly436Ala)
|
rs763981974
|
|
NM_024422.6(DSC2):c.1322C>T (p.Ala441Val)
|
rs1987173725
|
|
NM_024422.6(DSC2):c.1339G>A (p.Ala447Thr)
|
rs2144814116
|
|
NM_024422.6(DSC2):c.1343G>A (p.Ser448Asn)
|
rs778959850
|
|
NM_024422.6(DSC2):c.1350A>C (p.Arg450Ser)
|
rs144242114
|
|
NM_024422.6(DSC2):c.1352C>G (p.Ser451Ter)
|
rs794728068
|
|
NM_024422.6(DSC2):c.1396G>C (p.Asp466His)
|
|
|
NM_024422.6(DSC2):c.1412G>A (p.Cys471Tyr)
|
rs1314641804
|
|
NM_024422.6(DSC2):c.1417C>T (p.Pro473Ser)
|
rs865914095
|
|
NM_024422.6(DSC2):c.1418C>T (p.Pro473Leu)
|
rs1987166340
|
|
NM_024422.6(DSC2):c.1436G>T (p.Arg479Leu)
|
rs774641579
|
|
NM_024422.6(DSC2):c.1444G>A (p.Glu482Lys)
|
rs1987164342
|
|
NM_024422.6(DSC2):c.1448A>T (p.Asn483Ile)
|
rs1987164076
|
|
NM_024422.6(DSC2):c.1462A>G (p.Thr488Ala)
|
rs1987163518
|
|
NM_024422.6(DSC2):c.1465A>G (p.Thr489Ala)
|
rs1987163251
|
|
NM_024422.6(DSC2):c.1468A>G (p.Ser490Gly)
|
rs2144813452
|
|
NM_024422.6(DSC2):c.1472A>G (p.Asn491Ser)
|
rs770114301
|
|
NM_024422.6(DSC2):c.1478A>G (p.Tyr493Cys)
|
rs1987162049
|
|
NM_024422.6(DSC2):c.1490A>T (p.Asp497Val)
|
rs2144813366
|
|
NM_024422.6(DSC2):c.1510A>G (p.Ser504Gly)
|
rs750965801
|
|
NM_024422.6(DSC2):c.1514G>A (p.Gly505Asp)
|
rs1987160435
|
|
NM_024422.6(DSC2):c.1520G>A (p.Arg507Lys)
|
rs2144813287
|
|
NM_024422.6(DSC2):c.1543A>G (p.Thr515Ala)
|
rs771406828
|
|
NM_024422.6(DSC2):c.155-1G>A
|
rs1987629887
|
|
NM_024422.6(DSC2):c.1552G>T (p.Val518Phe)
|
|
|
NM_024422.6(DSC2):c.1555A>G (p.Thr519Ala)
|
rs1987153246
|
|
NM_024422.6(DSC2):c.1556C>T (p.Thr519Ile)
|
rs1987153056
|
|
NM_024422.6(DSC2):c.155T>C (p.Val52Ala)
|
rs1987629779
|
|
NM_024422.6(DSC2):c.1564G>A (p.Glu522Lys)
|
|
|
NM_024422.6(DSC2):c.1588T>C (p.Phe530Leu)
|
rs939273596
|
|
NM_024422.6(DSC2):c.1593A>C (p.Arg531Ser)
|
rs762973455
|
|
NM_024422.6(DSC2):c.1594A>G (p.Ser532Gly)
|
rs2144812707
|
|
NM_024422.6(DSC2):c.1620C>G (p.Ile540Met)
|
rs765374888
|
|
NM_024422.6(DSC2):c.1651G>A (p.Ala551Thr)
|
rs1987146258
|
|
NM_024422.6(DSC2):c.1664-1G>C
|
rs776877367
|
|
NM_024422.6(DSC2):c.1664G>A (p.Gly555Glu)
|
rs766681408
|
|
NM_024422.6(DSC2):c.1673C>T (p.Thr558Ile)
|
rs1277586365
|
|
NM_024422.6(DSC2):c.1681G>C (p.Gly561Arg)
|
rs2144800482
|
|
NM_024422.6(DSC2):c.1706A>T (p.Asp569Val)
|
|
|
NM_024422.6(DSC2):c.1707C>A (p.Asp569Glu)
|
rs201517977
|
|
NM_024422.6(DSC2):c.1708G>A (p.Val570Met)
|
rs992887444
|
|
NM_024422.6(DSC2):c.1708G>C (p.Val570Leu)
|
rs992887444
|
|
NM_024422.6(DSC2):c.1711A>T (p.Asn571Tyr)
|
rs2144800393
|
|
NM_024422.6(DSC2):c.1717A>G (p.Asn573Asp)
|
rs1057518818
|
|
NM_024422.6(DSC2):c.1735A>G (p.Lys579Glu)
|
rs1358638028
|
|
NM_024422.6(DSC2):c.1750A>G (p.Ile584Val)
|
rs755041461
|
|
NM_024422.6(DSC2):c.1763C>T (p.Thr588Ile)
|
rs1674674418
|
|
NM_024422.6(DSC2):c.1766T>A (p.Met589Lys)
|
rs201856473
|
|
NM_024422.6(DSC2):c.1767G>A (p.Met589Ile)
|
rs2144800002
|
|
NM_024422.6(DSC2):c.1782T>G (p.Ile594Met)
|
|
|
NM_024422.6(DSC2):c.1786G>A (p.Ala596Thr)
|
rs1438904893
|
|
NM_024422.6(DSC2):c.182C>A (p.Ala61Glu)
|
rs758707293
|
|
NM_024422.6(DSC2):c.1866G>A (p.Met622Ile)
|
rs2144799406
|
|
NM_024422.6(DSC2):c.1888+1G>C
|
rs1986950096
|
|
NM_024422.6(DSC2):c.1892C>T (p.Thr631Ile)
|
|
|
NM_024422.6(DSC2):c.1898C>T (p.Ala633Val)
|
rs1986847217
|
|
NM_024422.6(DSC2):c.1900C>T (p.Arg634Cys)
|
rs1443409965
|
|
NM_024422.6(DSC2):c.1907C>G (p.Ser636Cys)
|
rs764355417
|
|
NM_024422.6(DSC2):c.1918G>A (p.Asp640Asn)
|
rs267605146
|
|
NM_024422.6(DSC2):c.1939del (p.Tyr646_Val647insTer)
|
rs1986844120
|
|
NM_024422.6(DSC2):c.1946C>T (p.Pro649Leu)
|
rs765948147
|
|
NM_024422.6(DSC2):c.1953A>G (p.Thr651=)
|
|
|
NM_024422.6(DSC2):c.1960G>C (p.Asp654His)
|
rs1315556709
|
|
NM_024422.6(DSC2):c.1960_1961del (p.Arg653_Asp654insTer)
|
rs2144791474
|
|
NM_024422.6(DSC2):c.1966C>T (p.Leu656Phe)
|
rs2144791442
|
|
NM_024422.6(DSC2):c.1972A>G (p.Met658Val)
|
rs1986842279
|
|
NM_024422.6(DSC2):c.1978del (p.Ser660fs)
|
rs1986841708
|
|
NM_024422.6(DSC2):c.1984A>G (p.Thr662Ala)
|
rs1986840957
|
|
NM_024422.6(DSC2):c.1985del (p.Thr662fs)
|
|
|
NM_024422.6(DSC2):c.1987T>G (p.Ser663Ala)
|
|
|
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly)
|
rs778236763
|
|
NM_024422.6(DSC2):c.1A>G (p.Met1Val)
|
rs1026402319
|
|
NM_024422.6(DSC2):c.2003T>C (p.Leu668Pro)
|
rs1432852100
|
|
NM_024422.6(DSC2):c.2014A>G (p.Ile672Val)
|
rs375842356
|
|
NM_024422.6(DSC2):c.2033C>T (p.Thr678Ile)
|
rs794728062
|
|
NM_024422.6(DSC2):c.2035C>T (p.His679Tyr)
|
rs1567973075
|
|
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser)
|
rs757253682
|
|
NM_024422.6(DSC2):c.2038C>T (p.Arg680Cys)
|
rs757253682
|
|
NM_024422.6(DSC2):c.2039G>A (p.Arg680His)
|
rs374002111
|
|
NM_024422.6(DSC2):c.2046T>A (p.Asp682Glu)
|
rs1161794192
|
|
NM_024422.6(DSC2):c.205C>T (p.Pro69Ser)
|
rs1987627721
|
|
NM_024422.6(DSC2):c.2096C>T (p.Ala699Val)
|
rs2144790608
|
|
NM_024422.6(DSC2):c.2119C>G (p.Leu707Val)
|
rs1986829406
|
|
NM_024422.6(DSC2):c.211T>G (p.Phe71Val)
|
|
|
NM_024422.6(DSC2):c.2125+5G>T
|
rs1986828460
|
|
NM_024422.6(DSC2):c.2126G>C (p.Cys709Ser)
|
rs145831682
|
|
NM_024422.6(DSC2):c.2152G>T (p.Ala718Ser)
|
|
|
NM_024422.6(DSC2):c.2162C>A (p.Thr721Lys)
|
rs759513934
|
|
NM_024422.6(DSC2):c.2162del (p.Thr721fs)
|
rs1986800713
|
|
NM_024422.6(DSC2):c.217A>G (p.Ile73Val)
|
|
|
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr)
|
rs1422818892
|
|
NM_024422.6(DSC2):c.2218T>C (p.Ser740Pro)
|
rs1555637438
|
|
NM_024422.6(DSC2):c.2229A>C (p.Glu743Asp)
|
rs1380094242
|
|
NM_024422.6(DSC2):c.2250+1G>A
|
rs1986794200
|
|
NM_024422.6(DSC2):c.2254T>C (p.Ser752Pro)
|
rs1986742221
|
|
NM_024422.6(DSC2):c.2267T>C (p.Phe756Ser)
|
rs1986741020
|
|
NM_024422.6(DSC2):c.2288C>T (p.Ala763Val)
|
rs1986739683
|
|
NM_024422.6(DSC2):c.230G>A (p.Gly77Asp)
|
rs761544006
|
|
NM_024422.6(DSC2):c.230G>T (p.Gly77Val)
|
rs761544006
|
|
NM_024422.6(DSC2):c.2312C>A (p.Thr771Asn)
|
rs2144784219
|
|
NM_024422.6(DSC2):c.2312C>T (p.Thr771Ile)
|
|
|
NM_024422.6(DSC2):c.2318G>T (p.Gly773Val)
|
rs749174176
|
|
NM_024422.6(DSC2):c.2344G>A (p.Glu782Lys)
|
rs866805043
|
|
NM_024422.6(DSC2):c.2359G>A (p.Val787Met)
|
rs1789053
|
|
NM_024422.6(DSC2):c.2363A>C (p.Lys788Thr)
|
rs1430547540
|
|
NM_024422.6(DSC2):c.2369G>A (p.Gly790Glu)
|
rs1555637241
|
|
NM_024422.6(DSC2):c.2371C>A (p.His791Asn)
|
rs1789052
|
|
NM_024422.6(DSC2):c.2374C>T (p.Gln792Ter)
|
rs1364738194
|
|
NM_024422.6(DSC2):c.2384A>T (p.Glu795Val)
|
rs1303375887
|
|
NM_024422.6(DSC2):c.2393G>T (p.Arg798Leu)
|
rs61731921
|
|
NM_024422.6(DSC2):c.2402G>A (p.Gly801Asp)
|
rs1215462499
|
|
NM_024422.6(DSC2):c.245C>A (p.Thr82Lys)
|
|
|
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter)
|
rs1567971476
|
|
NM_024422.6(DSC2):c.2467dup (p.Tyr823fs)
|
|
|
NM_024422.6(DSC2):c.2516A>G (p.Tyr839Cys)
|
rs2144781456
|
|
NM_024422.6(DSC2):c.2530G>C (p.Asp844His)
|
rs2144781408
|
|
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs)
|
rs794728077
|
|
NM_024422.6(DSC2):c.2553del (p.Asp852fs)
|
rs1374904618
|
|
NM_024422.6(DSC2):c.2569T>C (p.Tyr857His)
|
rs747396159
|
|
NM_024422.6(DSC2):c.2570A>G (p.Tyr857Cys)
|
rs1986692806
|
|
NM_024422.6(DSC2):c.2577T>A (p.Tyr859Ter)
|
rs767866098
|
|
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs)
|
rs780970079
|
|
NM_024422.6(DSC2):c.2583_2587dup (p.Gly863fs)
|
rs1986691422
|
|
NM_024422.6(DSC2):c.2593G>A (p.Val865Met)
|
|
|
NM_024422.6(DSC2):c.2597C>T (p.Ala866Val)
|
rs760363798
|
|
NM_024422.6(DSC2):c.2608G>T (p.Gly870Cys)
|
rs1986689119
|
|
NM_024422.6(DSC2):c.2620G>A (p.Glu874Lys)
|
rs1395671324
|
|
NM_024422.6(DSC2):c.2621A>G (p.Glu874Gly)
|
rs1986688160
|
|
NM_024422.6(DSC2):c.2627A>G (p.Gln876Arg)
|
|
|
NM_024422.6(DSC2):c.2628AGA[2] (p.Glu878del)
|
rs756886183
|
|
NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg)
|
rs1986686862
|
|
NM_024422.6(DSC2):c.2644G>A (p.Glu882Lys)
|
rs1352394486
|
|
NM_024422.6(DSC2):c.2669A>G (p.Lys890Arg)
|
rs2144780681
|
|
NM_024422.6(DSC2):c.2684C>G (p.Ala895Gly)
|
rs1986685195
|
|
NM_024422.6(DSC2):c.2705G>T (p.Ter902Leu)
|
rs1986683368
|
|
NM_024422.6(DSC2):c.28T>C (p.Trp10Arg)
|
rs1987977039
|
|
NM_024422.6(DSC2):c.301A>G (p.Thr101Ala)
|
rs1372970572
|
|
NM_024422.6(DSC2):c.306G>C (p.Glu102Asp)
|
|
|
NM_024422.6(DSC2):c.30G>T (p.Trp10Cys)
|
rs1555641322
|
|
NM_024422.6(DSC2):c.331G>C (p.Val111Leu)
|
rs1987620497
|
|
NM_024422.6(DSC2):c.338del (p.Leu113fs)
|
|
|
NM_024422.6(DSC2):c.34G>C (p.Gly12Arg)
|
rs568391206
|
|
NM_024422.6(DSC2):c.367A>G (p.Arg123Gly)
|
rs1987583524
|
|
NM_024422.6(DSC2):c.367del (p.Arg123fs)
|
rs2144843571
|
|
NM_024422.6(DSC2):c.371A>G (p.His124Arg)
|
rs794728061
|
|
NM_024422.6(DSC2):c.374C>A (p.Thr125Asn)
|
rs1987582538
|
|
NM_024422.6(DSC2):c.393G>T (p.Arg131Ser)
|
rs987038341
|
|
NM_024422.6(DSC2):c.412G>T (p.Ala138Ser)
|
rs1405349273
|
|
NM_024422.6(DSC2):c.425G>A (p.Cys142Tyr)
|
rs1478081073
|
|
NM_024422.6(DSC2):c.428C>T (p.Ser143Leu)
|
rs769576778
|
|
NM_024422.6(DSC2):c.449G>A (p.Gly150Asp)
|
rs1480345392
|
|
NM_024422.6(DSC2):c.46C>T (p.Arg16Trp)
|
rs1987975647
|
|
NM_024422.6(DSC2):c.500A>C (p.Tyr167Ser)
|
rs1987523408
|
|
NM_024422.6(DSC2):c.517A>G (p.Ile173Val)
|
rs766855728
|
|
NM_024422.6(DSC2):c.529G>A (p.Gly177Arg)
|
rs1567981666
|
|
NM_024422.6(DSC2):c.548G>A (p.Arg183Gln)
|
rs554713834
|
|
NM_024422.6(DSC2):c.562G>A (p.Val188Met)
|
|
|
NM_024422.6(DSC2):c.565G>A (p.Glu189Lys)
|
rs267605148
|
|
NM_024422.6(DSC2):c.577_624del (p.Gly193_Ser208del)
|
rs767081975
|
|
NM_024422.6(DSC2):c.585G>C (p.Leu195Phe)
|
rs912124448
|
|
NM_024422.6(DSC2):c.631-1G>A
|
|
|
NM_024422.6(DSC2):c.647C>T (p.Thr216Ile)
|
rs780448272
|
|
NM_024422.6(DSC2):c.660G>T (p.Gly220=)
|
|
|
NM_024422.6(DSC2):c.664A>G (p.Thr222Ala)
|
rs751014965
|
|
NM_024422.6(DSC2):c.665C>T (p.Thr222Ile)
|
rs1987453864
|
|
NM_024422.6(DSC2):c.667C>T (p.Pro223Ser)
|
rs762722282
|
|
NM_024422.6(DSC2):c.676C>T (p.Pro226Ser)
|
rs1987453023
|
|
NM_024422.6(DSC2):c.687AAT[1] (p.Ile231del)
|
rs2144833873
|
|
NM_024422.6(DSC2):c.69+2T>C
|
rs1987974114
|
|
NM_024422.6(DSC2):c.696A>G (p.Lys232=)
|
|
|
NM_024422.6(DSC2):c.69G>A (p.Ala23=)
|
rs1987974228
|
|
NM_024422.6(DSC2):c.69G>T (p.Ala23=)
|
|
|
NM_024422.6(DSC2):c.715_728dup (p.Phe243fs)
|
rs759922677
|
|
NM_024422.6(DSC2):c.71T>A (p.Ile24Asn)
|
rs2144850570
|
|
NM_024422.6(DSC2):c.734A>G (p.Glu245Gly)
|
rs373201722
|
|
NM_024422.6(DSC2):c.737A>G (p.Glu246Gly)
|
rs1057524741
|
|
NM_024422.6(DSC2):c.744_746delinsCAA (p.Thr249Asn)
|
rs1987447561
|
|
NM_024422.6(DSC2):c.752C>A (p.Thr251Lys)
|
rs1987446781
|
|
NM_024422.6(DSC2):c.76A>T (p.Ile26Leu)
|
|
|
NM_024422.6(DSC2):c.776-13dup
|
rs1987414584
|
|
NM_024422.6(DSC2):c.778A>G (p.Thr260Ala)
|
rs2144830965
|
|
NM_024422.6(DSC2):c.797G>A (p.Cys266Tyr)
|
rs1987413579
|
|
NM_024422.6(DSC2):c.799G>C (p.Ala267Pro)
|
rs966660258
|
|
NM_024422.6(DSC2):c.802A>C (p.Thr268Pro)
|
rs201015785
|
|
NM_024422.6(DSC2):c.824C>A (p.Thr275Lys)
|
rs397517404
|
|
NM_024422.6(DSC2):c.836G>T (p.Arg279Leu)
|
|
|
NM_024422.6(DSC2):c.860A>G (p.Gln287Arg)
|
rs748657811
|
|
NM_024422.6(DSC2):c.869C>A (p.Pro290Gln)
|
rs753579789
|
|
NM_024422.6(DSC2):c.875C>A (p.Pro292His)
|
|
|
NM_024422.6(DSC2):c.88G>A (p.Asp30Asn)
|
rs1987673824
|
|
NM_024422.6(DSC2):c.895C>T (p.Pro299Ser)
|
rs1987406167
|
|
NM_024422.6(DSC2):c.902C>T (p.Thr301Ile)
|
rs1213134766
|
|
NM_024422.6(DSC2):c.942+3A>G
|
|
|
NM_024422.6(DSC2):c.942+4A>T
|
rs2144830120
|
|
NM_024422.6(DSC2):c.942+6A>G
|
|
|
NM_024422.6(DSC2):c.942G>A (p.Glu314=)
|
|
|
NM_024422.6(DSC2):c.946A>T (p.Ile316Phe)
|
rs1233598092
|
|
NM_024422.6(DSC2):c.951_952delinsTT (p.Lys318Ter)
|
|
|
NM_024422.6(DSC2):c.959del (p.Gln320fs)
|
rs1987282253
|
|
NM_024422.6(DSC2):c.985G>A (p.Asp329Asn)
|
rs1987280682
|
|
NM_024422.6(DSC2):c.994T>C (p.Tyr332His)
|
rs794728067
|
|
NM_032578.4(MYPN):c.3646A>G (p.Arg1216Gly)
|
rs1589614570
|
|
NM_033118.4(MYLK2):c.1183C>T (p.Leu395Phe)
|
rs1568631895
|
|
NM_033118.4(MYLK2):c.1564G>A (p.Val522Ile)
|
rs747657397
|
|
NM_033118.4(MYLK2):c.1613C>T (p.Pro538Leu)
|
rs1600414450
|
|
NM_033118.4(MYLK2):c.167C>T (p.Ala56Val)
|
rs751084569
|
|
NM_033118.4(MYLK2):c.1711-4C>T
|
rs372190501
|
|
NM_033118.4(MYLK2):c.402G>T (p.Glu134Asp)
|
rs768092962
|
|
NM_033337.3(CAV3):c.115-1G>A
|
rs1559654217
|
|
NM_033337.3(CAV3):c.337G>A (p.Glu113Lys)
|
rs921802744
|
|
NM_033337.3(CAV3):c.391C>A (p.Pro131Thr)
|
rs1024814421
|
|
NM_033337.3(CAV3):c.402G>A (p.Ala134=)
|
rs559206877
|
|
NM_033337.3(CAV3):c.402G>C (p.Ala134=)
|
rs559206877
|
|
NM_033337.3(CAV3):c.413A>G (p.Gln138Arg)
|
rs1559655357
|
|
NM_078470.6(COX15):c.694G>T (p.Val232Phe)
|
rs1486568974
|
|
NM_144573.4(NEXN):c.*4CT[1]
|
rs553696163
|
|
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu)
|
rs200067011
|
|
NM_144573.4(NEXN):c.1251+1G>A
|
rs1650474978
|
|
NM_144573.4(NEXN):c.1271C>A (p.Thr424Asn)
|
|
|
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del)
|
rs794729091
|
|
NM_144573.4(NEXN):c.1473+5A>G
|
rs1650735272
|
|
NM_144573.4(NEXN):c.1499C>A (p.Ala500Glu)
|
rs2102176895
|
|
NM_144573.4(NEXN):c.1550T>A (p.Phe517Tyr)
|
rs1557996817
|
|
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del)
|
rs764505909
|
|
NM_144573.4(NEXN):c.1582_1585delinsCAAA (p.Glu528_Gln529delinsGlnLys)
|
rs1557996950
|
|
NM_144573.4(NEXN):c.1585C>A (p.Gln529Lys)
|
rs766323670
|
|
NM_144573.4(NEXN):c.166_169del (p.Arg56fs)
|
rs765396527
|
|
NM_144573.4(NEXN):c.1678G>C (p.Glu560Gln)
|
|
|
NM_144573.4(NEXN):c.1770C>T (p.Asn590=)
|
rs1557998187
|
|
NM_144573.4(NEXN):c.1922T>C (p.Leu641Ser)
|
rs760119697
|
|
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)
|
rs397517853
|
|
NM_144573.4(NEXN):c.257T>C (p.Val86Ala)
|
rs1557974419
|
|
NM_144573.4(NEXN):c.337A>G (p.Arg113Gly)
|
|
|
NM_144573.4(NEXN):c.43T>C (p.Ser15Pro)
|
|
|
NM_144573.4(NEXN):c.52G>A (p.Val18Ile)
|
rs2102091643
|
|
NM_144573.4(NEXN):c.535T>C (p.Tyr179His)
|
rs1557981610
|
|
NM_144573.4(NEXN):c.60A>C (p.Lys20Asn)
|
rs1557973780
|
|
NM_144573.4(NEXN):c.685A>G (p.Met229Val)
|
rs1179163117
|
|
NM_144573.4(NEXN):c.817del (p.Arg273fs)
|
rs2102125160
|
|
NM_144573.4(NEXN):c.821T>C (p.Leu274Ser)
|
rs2102125189
|
|
NM_144573.4(NEXN):c.865-4T>C
|
rs542794485
|
|
NM_144573.4(NEXN):c.989AAG[2] (p.Glu332del)
|
rs727505124
|
|
NM_170707.4(LMNA):c.*5G>A
|
rs1651907818
|
|
NM_170707.4(LMNA):c.-14C>T
|
|
|
NM_170707.4(LMNA):c.1006C>T (p.Arg336Trp)
|
rs1237093879
|
|
NM_170707.4(LMNA):c.1024G>A (p.Glu342Lys)
|
rs1651558432
|
|
NM_170707.4(LMNA):c.1052G>A (p.Arg351Lys)
|
|
|
NM_170707.4(LMNA):c.109G>A (p.Glu37Lys)
|
rs1354642495
|
|
NM_170707.4(LMNA):c.1157+5G>T
|
|
|
NM_170707.4(LMNA):c.1158-5C>G
|
rs1328158335
|
|
NM_170707.4(LMNA):c.1180A>T (p.Thr394Ser)
|
|
|
NM_170707.4(LMNA):c.1223A>C (p.Gln408Pro)
|
rs397517891
|
|
NM_170707.4(LMNA):c.1232G>A (p.Gly411Asp)
|
rs267607647
|
|
NM_170707.4(LMNA):c.1234G>A (p.Gly412Arg)
|
rs966050612
|
|
NM_170707.4(LMNA):c.1247C>A (p.Thr416Asn)
|
rs752367284
|
|
NM_170707.4(LMNA):c.1247C>T (p.Thr416Ile)
|
rs752367284
|
|
NM_170707.4(LMNA):c.1268C>G (p.Ser423Cys)
|
rs2102890409
|
|
NM_170707.4(LMNA):c.1286G>A (p.Ser429Asn)
|
rs1385994420
|
|
NM_170707.4(LMNA):c.1295A>G (p.Gln432Arg)
|
rs1651630330
|
|
NM_170707.4(LMNA):c.1312G>A (p.Gly438Arg)
|
rs766932100
|
|
NM_170707.4(LMNA):c.1316G>A (p.Arg439His)
|
|
|
NM_170707.4(LMNA):c.1327G>A (p.Glu443Lys)
|
rs1558132212
|
|
NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu)
|
rs505058
|
|
NM_170707.4(LMNA):c.1380+3A>G
|
rs1487175603
|
|
NM_170707.4(LMNA):c.1381-6C>A
|
rs371635492
|
|
NM_170707.4(LMNA):c.141C>A (p.Asp47Glu)
|
rs1649715628
|
|
NM_170707.4(LMNA):c.1422_1424dup (p.Gly474_Asp475insGlu)
|
rs267607579
|
|
NM_170707.4(LMNA):c.1451C>T (p.Pro484Leu)
|
rs2102894099
|
|
NM_170707.4(LMNA):c.1453C>G (p.Pro485Ala)
|
rs886042993
|
|
NM_170707.4(LMNA):c.1474G>A (p.Gly492Arg)
|
rs373480082
|
|
NM_170707.4(LMNA):c.1498G>T (p.Ala500Ser)
|
|
|
NM_170707.4(LMNA):c.1525C>T (p.Pro509Ser)
|
rs762847359
|
|
NM_170707.4(LMNA):c.1531G>A (p.Asp511Asn)
|
rs759408439
|
|
NM_170707.4(LMNA):c.1546G>A (p.Ala516Thr)
|
rs1383314305
|
|
NM_170707.4(LMNA):c.1580G>T (p.Arg527Leu)
|
rs57520892
|
|
NM_170707.4(LMNA):c.1609G>A (p.Glu537Lys)
|
|
|
NM_170707.4(LMNA):c.161C>T (p.Thr54Met)
|
rs879253992
|
|
NM_170707.4(LMNA):c.1639G>A (p.Val547Met)
|
rs201947393
|
|
NM_170707.4(LMNA):c.1642A>C (p.Thr548Pro)
|
rs1651784912
|
|
NM_170707.4(LMNA):c.1642A>G (p.Thr548Ala)
|
|
|
NM_170707.4(LMNA):c.1657G>C (p.Asp553His)
|
|
|
NM_170707.4(LMNA):c.1696C>G (p.His566Asp)
|
rs1195284382
|
|
NM_170707.4(LMNA):c.1698+1G>C
|
rs1553266337
|
|
NM_170707.4(LMNA):c.1698+26G>A
|
rs766567207
|
|
NM_170707.4(LMNA):c.1699-9_1699-8del
|
rs1572369030
|
|
NM_170707.4(LMNA):c.1712G>A (p.Ser571Asn)
|
rs1250355311
|
|
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu)
|
rs57830985
|
|
NM_170707.4(LMNA):c.1747_1750dup (p.Arg584fs)
|
rs1651858164
|
|
NM_170707.4(LMNA):c.1749G>A (p.Ser583=)
|
rs970494454
|
|
NM_170707.4(LMNA):c.178C>T (p.Arg60Cys)
|
rs28928900
|
|
NM_170707.4(LMNA):c.1801A>C (p.Ser601Arg)
|
|
|
NM_170707.4(LMNA):c.1817A>G (p.Gln606Arg)
|
rs1651866656
|
|
NM_170707.4(LMNA):c.1835C>T (p.Ser612Phe)
|
rs1651868666
|
|
NM_170707.4(LMNA):c.1837T>C (p.Ser613Pro)
|
rs147627124
|
|
NM_170707.4(LMNA):c.1853C>G (p.Ser618Cys)
|
|
|
NM_170707.4(LMNA):c.1858G>T (p.Val620Phe)
|
rs1187655257
|
|
NM_170707.4(LMNA):c.1873A>T (p.Ser625Cys)
|
rs398124550
|
|
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro)
|
rs1553266553
|
|
NM_170707.4(LMNA):c.1880G>C (p.Arg627Pro)
|
rs745997478
|
|
NM_170707.4(LMNA):c.1885G>T (p.Val629Leu)
|
|
|
NM_170707.4(LMNA):c.1901G>A (p.Gly634Asp)
|
rs1470825986
|
|
NM_170707.4(LMNA):c.1911C>A (p.Phe637Leu)
|
rs117939448
|
|
NM_170707.4(LMNA):c.1916A>G (p.Asp639Gly)
|
rs1572369800
|
|
NM_170707.4(LMNA):c.1922T>G (p.Leu641Arg)
|
rs1651878365
|
|
NM_170707.4(LMNA):c.1934C>T (p.Ser645Phe)
|
rs2102902562
|
|
NM_170707.4(LMNA):c.1943T>G (p.Leu648Arg)
|
rs1651880438
|
|
NM_170707.4(LMNA):c.1949A>G (p.Asn650Ser)
|
rs775728847
|
|
NM_170707.4(LMNA):c.1969-11T>G
|
rs1651904179
|
|
NM_170707.4(LMNA):c.1969-1G>T
|
rs1060499873
|
|
NM_170707.4(LMNA):c.202G>A (p.Glu68Lys)
|
rs1260675493
|
|
NM_170707.4(LMNA):c.206T>C (p.Val69Ala)
|
rs1649725893
|
|
NM_170707.4(LMNA):c.226G>A (p.Gly76Ser)
|
rs745651340
|
|
NM_170707.4(LMNA):c.230T>A (p.Ile77Asn)
|
rs876657850
|
|
NM_170707.4(LMNA):c.25G>A (p.Ala9Thr)
|
|
|
NM_170707.4(LMNA):c.274C>G (p.Leu92Val)
|
rs267607560
|
|
NM_170707.4(LMNA):c.286G>T (p.Ala96Ser)
|
rs1553262000
|
|
NM_170707.4(LMNA):c.302G>A (p.Arg101His)
|
rs267607568
|
|
NM_170707.4(LMNA):c.334G>A (p.Glu112Lys)
|
rs1553262031
|
|
NM_170707.4(LMNA):c.355C>T (p.Arg119Cys)
|
rs17856971
|
|
NM_170707.4(LMNA):c.370G>A (p.Glu124Lys)
|
rs2102865393
|
|
NM_170707.4(LMNA):c.373G>A (p.Gly125Ser)
|
rs267607605
|
|
NM_170707.4(LMNA):c.379C>T (p.Leu127=)
|
rs1428192739
|
|
NM_170707.4(LMNA):c.37G>A (p.Gly13Arg)
|
rs1649700208
|
|
NM_170707.4(LMNA):c.382A>G (p.Ile128Val)
|
rs1338283666
|
|
NM_170707.4(LMNA):c.383T>C (p.Ile128Thr)
|
rs746475627
|
|
NM_170707.4(LMNA):c.386C>A (p.Ala129Asp)
|
rs768203943
|
|
NM_170707.4(LMNA):c.451G>A (p.Ala151Thr)
|
|
|
NM_170707.4(LMNA):c.470C>A (p.Thr157Lys)
|
|
|
NM_170707.4(LMNA):c.488A>G (p.His163Arg)
|
rs1650987918
|
|
NM_170707.4(LMNA):c.489T>G (p.His163Gln)
|
rs1558126350
|
|
NM_170707.4(LMNA):c.503A>G (p.Gln168Arg)
|
|
|
NM_170707.4(LMNA):c.511A>G (p.Lys171Glu)
|
rs1650991296
|
|
NM_170707.4(LMNA):c.521C>A (p.Ala174Glu)
|
rs762153472
|
|
NM_170707.4(LMNA):c.536C>A (p.Ala179Asp)
|
rs1651339300
|
|
NM_170707.4(LMNA):c.554A>T (p.Asp185Val)
|
rs1651341345
|
|
NM_170707.4(LMNA):c.610C>G (p.Leu204Val)
|
rs1553265177
|
|
NM_170707.4(LMNA):c.631T>A (p.Tyr211Asn)
|
|
|
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)
|
rs199474724
|
|
NM_170707.4(LMNA):c.686T>C (p.Ile229Thr)
|
rs727505357
|
|
NM_170707.4(LMNA):c.71C>G (p.Thr24Ser)
|
rs1195524446
|
|
NM_170707.4(LMNA):c.748G>A (p.Ala250Thr)
|
rs1572360042
|
|
NM_170707.4(LMNA):c.751C>A (p.Gln251Lys)
|
|
|
NM_170707.4(LMNA):c.760G>A (p.Asp254Asn)
|
rs1553265346
|
|
NM_170707.4(LMNA):c.76A>C (p.Ile26Leu)
|
|
|
NM_170707.4(LMNA):c.783G>C (p.Lys261Asn)
|
rs2102881882
|
|
NM_170707.4(LMNA):c.784_785delinsTT (p.Glu262Leu)
|
rs1651415727
|
|
NM_170707.4(LMNA):c.787C>A (p.Leu263Met)
|
rs750246389
|
|
NM_170707.4(LMNA):c.808A>C (p.Lys270Gln)
|
rs879253920
|
|
NM_170707.4(LMNA):c.810+4C>A
|
rs780196737
|
|
NM_170707.4(LMNA):c.853G>T (p.Val285Leu)
|
rs746056534
|
|
NM_170707.4(LMNA):c.860C>T (p.Ala287Val)
|
rs397517910
|
|
NM_170707.4(LMNA):c.877C>G (p.Gln293Glu)
|
rs1553265455
|
|
NM_170707.4(LMNA):c.889A>G (p.Ile297Val)
|
rs886043082
|
|
NM_170707.4(LMNA):c.897C>G (p.Ile299Met)
|
rs762718963
|
|
NM_170707.4(LMNA):c.897C>T (p.Ile299=)
|
rs762718963
|
|
NM_170707.4(LMNA):c.8C>A (p.Thr3Asn)
|
rs1235021953
|
|
NM_170707.4(LMNA):c.940G>A (p.Ala314Thr)
|
rs769498020
|
|
NM_170707.4(LMNA):c.985C>T (p.Arg329Cys)
|
rs775159300
|
|
NM_182961.4(SYNE1):c.12362_12363delinsGT (p.Lys4121Ser)
|
rs386707192
|
|