ClinVar Miner

List of variants reported as uncertain significance for Cardiovascular phenotype

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ClinVar version:
Total variants: 23993
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HGVS dbSNP gnomAD frequency
NM_001267550.2(TTN):c.9359G>A (p.Arg3120Gln) rs72647894 0.00404
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374 0.00382
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_001365276.2(TNXB):c.1047C>G (p.Gly349=) rs369785145 0.00184
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355 0.00179
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850 0.00158
NM_000040.3(APOC3):c.55+1G>A rs138326449 0.00153
NM_001365276.2(TNXB):c.2945C>T (p.Thr982Ile) rs199569974 0.00146
NM_000235.4(LIPA):c.754A>T (p.Ile252Leu) rs147493628 0.00140
NM_145046.5(CALR3):c.848C>T (p.Thr283Ile) rs75099211 0.00138
NM_000483.5(APOC2):c.8C>T (p.Thr3Ile) rs148343756 0.00134
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001365276.2(TNXB):c.5833T>C (p.Tyr1945His) rs201412413 0.00126
NM_001267550.2(TTN):c.32186C>T (p.Thr10729Met) rs115119858 0.00125
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398 0.00114
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00109
NM_014908.4(DOLK):c.700A>G (p.Met234Val) rs139787271 0.00102
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) rs34754243 0.00100
NM_021167.5(GATAD1):c.96T>G (p.His32Gln) rs532003876 0.00099
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001365276.2(TNXB):c.1355G>A (p.Cys452Tyr) rs375984855 0.00096
NM_001365276.2(TNXB):c.7750C>T (p.Arg2584Cys) rs201690494 0.00096
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_000384.3(APOB):c.3712C>A (p.Leu1238Ile) rs72653078 0.00091
NM_001267550.2(TTN):c.96098G>A (p.Arg32033His) rs200648462 0.00090
NM_001365276.2(TNXB):c.5488A>C (p.Ser1830Arg) rs200519530 0.00088
NM_001365276.2(TNXB):c.9523A>T (p.Thr3175Ser) rs202109631 0.00085
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001367624.2(ZNF469):c.9676C>A (p.His3226Asn) rs867530230 0.00081
NM_001232.4(CASQ2):c.730C>T (p.His244Tyr) rs142036299 0.00076
NM_001365276.2(TNXB):c.2633G>A (p.Gly878Asp) rs201647307 0.00076
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_014908.4(DOLK):c.671A>T (p.Asp224Val) rs17485436 0.00074
NM_000384.3(APOB):c.4178C>T (p.Ala1393Val) rs143282164 0.00073
NM_000483.5(APOC2):c.122A>C (p.Lys41Thr) rs120074114 0.00071
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) rs762283381 0.00071
NM_001365276.2(TNXB):c.3488G>A (p.Gly1163Glu) rs185207099 0.00067
NM_020778.5(ALPK3):c.1015C>T (p.Arg339Cys) rs141449225 0.00067
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001367624.2(ZNF469):c.11697A>C (p.Arg3899Ser) rs561879014 0.00063
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly) rs147426329 0.00061
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422 0.00061
NM_001365276.2(TNXB):c.10111G>A (p.Val3371Met) rs201155046 0.00061
NM_001010874.5(TECRL):c.454A>G (p.Thr152Ala) rs143746083 0.00058
NM_014908.4(DOLK):c.1114T>A (p.Phe372Ile) rs146395561 0.00058
NM_001365276.2(TNXB):c.10151C>G (p.Ser3384Cys) rs200580526 0.00057
NM_020778.5(ALPK3):c.2965G>A (p.Gly989Arg) rs115074675 0.00056
NM_001267550.2(TTN):c.83171T>G (p.Val27724Gly) rs201896662 0.00054
NM_001365276.2(TNXB):c.1965C>G (p.Asp655Glu) rs372621686 0.00054
NM_001365276.2(TNXB):c.6367G>A (p.Asp2123Asn) rs201764050 0.00054
NM_001365276.2(TNXB):c.7802C>T (p.Pro2601Leu) rs575866552 0.00053
NM_001079802.2(FKTN):c.1159G>A (p.Gly387Arg) rs148975262 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr) rs553227769 0.00051
NM_001365276.2(TNXB):c.9421T>A (p.Ser3141Thr) rs200416489 0.00050
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001365276.2(TNXB):c.1927A>G (p.Thr643Ala) rs201703963 0.00049
NM_001365276.2(TNXB):c.2783C>A (p.Ser928Tyr) rs756778483 0.00049
NM_002317.7(LOX):c.388T>C (p.Ser130Pro) rs139035462 0.00049
NM_001105206.3(LAMA4):c.*1C>T rs148811960 0.00048
NM_003480.4(MFAP5):c.236A>T (p.Asn79Ile) rs139330366 0.00048
NM_007078.3(LDB3):c.1312A>G (p.Thr438Ala) rs111941389 0.00048
NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr) rs564747350 0.00048
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg) rs142125966 0.00047
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001365276.2(TNXB):c.6428G>A (p.Gly2143Asp) rs369288131 0.00046
NM_003242.6(TGFBR2):c.649G>C (p.Ala217Pro) rs149141477 0.00046
NM_005751.5(AKAP9):c.674T>C (p.Met225Thr) rs143717354 0.00046
NM_020778.5(ALPK3):c.1982T>A (p.Met661Lys) rs150227073 0.00046
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) rs149059189 0.00045
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00045
NM_022437.3(ABCG8):c.1225A>G (p.Asn409Asp) rs140373311 0.00044
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn) rs148456883 0.00043
NM_001010874.5(TECRL):c.739A>G (p.Asn247Asp) rs143329328 0.00042
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00042
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301 0.00042
NM_006440.5(TXNRD2):c.656G>C (p.Gly219Ala) rs199510610 0.00042
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028 0.00041
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001365276.2(TNXB):c.8990G>A (p.Arg2997His) rs41270454 0.00041
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) rs150815925 0.00041
NM_016938.5(EFEMP2):c.728-3C>T rs377139656 0.00041
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093 0.00040
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_005751.5(AKAP9):c.1936A>G (p.Ile646Val) rs144918888 0.00039
NM_020433.5(JPH2):c.692G>A (p.Arg231Gln) rs761591158 0.00039
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_000784.4(CYP27A1):c.958C>T (p.Leu320Phe) rs367855115 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_020778.5(ALPK3):c.938G>A (p.Gly313Glu) rs148547083 0.00038
NM_001365276.2(TNXB):c.2947G>A (p.Ala983Thr) rs138850364 0.00037
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter) rs1004428835 0.00037
NM_014391.3(ANKRD1):c.313C>T (p.Pro105Ser) rs148189486 0.00037
NM_016938.5(EFEMP2):c.259G>A (p.Val87Ile) rs149525720 0.00037
NM_004444.5(EPHB4):c.1384G>A (p.Gly462Arg) rs146674844 0.00036
NM_005477.3(HCN4):c.2420G>A (p.Arg807His) rs200395062 0.00036
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu) rs150654176 0.00036
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) rs150890296 0.00036
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001365276.2(TNXB):c.2927G>A (p.Arg976His) rs200771983 0.00035
NM_001365276.2(TNXB):c.619G>A (p.Gly207Ser) rs139154852 0.00035
NM_001365276.2(TNXB):c.6598A>G (p.Met2200Val) rs373648872 0.00035
NM_001365276.2(TNXB):c.8300C>T (p.Thr2767Ile) rs201649053 0.00035
NM_001365276.2(TNXB):c.8740G>A (p.Gly2914Ser) rs200708257 0.00035
NM_001267550.2(TTN):c.82684T>C (p.Tyr27562His) rs376616067 0.00034
NM_001365276.2(TNXB):c.3149-3C>T rs372556970 0.00034
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg) rs142744204 0.00034
NM_006073.4(TRDN):c.71T>A (p.Val24Glu) rs201097255 0.00034
NM_020778.5(ALPK3):c.4939A>T (p.Arg1647Trp) rs115364627 0.00034
NM_174936.4(PCSK9):c.1445A>G (p.Glu482Gly) rs141995194 0.00034
NM_001232.4(CASQ2):c.874G>T (p.Ala292Ser) rs200643387 0.00033
NM_001367624.2(ZNF469):c.943G>A (p.Glu315Lys) rs530720576 0.00033
NM_002471.4(MYH6):c.5627A>G (p.Lys1876Arg) rs201919534 0.00033
NM_000041.4(APOE):c.805C>G (p.Arg269Gly) rs267606661 0.00032
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_001079802.2(FKTN):c.25G>T (p.Val9Phe) rs145387221 0.00032
NM_001365276.2(TNXB):c.8392C>T (p.Arg2798Cys) rs190411129 0.00032
NM_015627.3(LDLRAP1):c.451C>T (p.Arg151Trp) rs148916767 0.00032
NM_020778.5(ALPK3):c.5114G>A (p.Arg1705Gln) rs116585466 0.00032
NM_022436.3(ABCG5):c.431T>C (p.Val144Ala) rs376797531 0.00032
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_001365276.2(TNXB):c.211G>T (p.Val71Leu) rs201922477 0.00031
NM_001458.5(FLNC):c.5954C>T (p.Ser1985Leu) rs200415625 0.00031
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp) rs144236975 0.00031
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_001267550.2(TTN):c.70906C>T (p.Arg23636Cys) rs189208539 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_001134363.3(RBM20):c.567G>T (p.Gln189His) rs377623370 0.00029
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00029
NM_001267550.2(TTN):c.835C>T (p.Arg279Trp) rs138060032 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001308093.3(GATA4):c.802G>A (p.Val268Met) rs116781972 0.00029
NM_001365276.2(TNXB):c.5084C>T (p.Thr1695Met) rs201973085 0.00029
NM_001458.5(FLNC):c.1474A>G (p.Lys492Glu) rs118056738 0.00029
NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg) rs560327746 0.00029
NM_020297.4(ABCC9):c.305T>C (p.Leu102Pro) rs374659816 0.00029
NM_020778.5(ALPK3):c.3302G>A (p.Gly1101Asp) rs201049076 0.00029
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr) rs561197163 0.00029
NM_001105206.3(LAMA4):c.2614C>G (p.Pro872Ala) rs180931319 0.00028
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) rs727503392 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001365276.2(TNXB):c.3277G>A (p.Val1093Met) rs200432719 0.00028
NM_001367624.2(ZNF469):c.3326C>T (p.Pro1109Leu) rs562264117 0.00028
NM_006073.4(TRDN):c.1811C>T (p.Thr604Ile) rs763939252 0.00028
NM_017636.4(TRPM4):c.127G>A (p.Ala43Thr) rs112149155 0.00028
NM_020778.5(ALPK3):c.4808T>C (p.Leu1603Pro) rs145058237 0.00028
NM_144573.4(NEXN):c.242A>T (p.Asp81Val) rs367871780 0.00028
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe) rs148997255 0.00027
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207 0.00026
NM_000384.3(APOB):c.925G>A (p.Ala309Thr) rs141888564 0.00026
NM_001010874.5(TECRL):c.722C>T (p.Thr241Ile) rs148333637 0.00026
NM_001367624.2(ZNF469):c.3109A>T (p.Arg1037Trp) rs753720576 0.00026
NM_001367624.2(ZNF469):c.7981G>A (p.Gly2661Ser) rs138259179 0.00026
NM_001378454.1(ALMS1):c.11626A>G (p.Asn3876Asp) rs377130177 0.00026
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692 0.00026
NM_001458.5(FLNC):c.4097A>G (p.Asn1366Ser) rs185746835 0.00026
NM_001458.5(FLNC):c.5311C>G (p.Pro1771Ala) rs200001272 0.00026
NM_004444.5(EPHB4):c.1079G>A (p.Arg360His) rs202006098 0.00026
NM_005751.5(AKAP9):c.9697C>T (p.Arg3233Cys) rs61757674 0.00026
NM_006073.4(TRDN):c.2187G>T (p.Gln729His) rs373439044 0.00026
NM_007078.3(LDB3):c.2092G>A (p.Ala698Thr) rs45577134 0.00026
NM_020778.5(ALPK3):c.4387A>G (p.Arg1463Gly) rs147450988 0.00026
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) rs776947530 0.00026
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548 0.00025
NM_000890.5(KCNJ5):c.122G>A (p.Arg41His) rs139073333 0.00025
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00025
NM_001267550.2(TTN):c.105482C>A (p.Thr35161Asn) rs372263729 0.00025
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00025
NM_001458.5(FLNC):c.1757T>C (p.Val586Ala) rs374132023 0.00025
NM_001458.5(FLNC):c.2068T>C (p.Phe690Leu) rs200943714 0.00025
NM_002471.4(MYH6):c.1048G>A (p.Val350Ile) rs200260629 0.00025
NM_002474.3(MYH11):c.5393G>A (p.Arg1798Gln) rs148938946 0.00025
NM_005751.5(AKAP9):c.464C>A (p.Thr155Asn) rs142632541 0.00025
NM_005751.5(AKAP9):c.8677G>C (p.Asp2893His) rs142573103 0.00025
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn) rs199984328 0.00025
NM_022773.4(LMF1):c.1138G>A (p.Val380Met) rs201734228 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_172201.2(KCNE2):c.80G>A (p.Arg27His) rs148968498 0.00025
NM_181486.4(TBX5):c.100G>T (p.Ala34Ser) rs368311885 0.00025
NM_000089.4(COL1A2):c.3283C>T (p.Pro1095Ser) rs370608825 0.00024
NM_000152.5(GAA):c.922C>T (p.His308Tyr) rs112025212 0.00024
NM_000218.3(KCNQ1):c.1861G>A (p.Gly621Ser) rs199472820 0.00024
NM_000237.3(LPL):c.998G>A (p.Arg333His) rs144466625 0.00024
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_000784.4(CYP27A1):c.1564G>A (p.Val522Met) rs151117761 0.00024
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887 0.00024
NM_001232.4(CASQ2):c.985C>T (p.Pro329Ser) rs28730713 0.00024
NM_001267550.2(TTN):c.91173A>C (p.Glu30391Asp) rs199505541 0.00024
NM_001365276.2(TNXB):c.6211G>A (p.Gly2071Arg) rs200319996 0.00024
NM_001365276.2(TNXB):c.7351C>T (p.Arg2451Trp) rs201990072 0.00024
NM_001365276.2(TNXB):c.7946C>T (p.Thr2649Met) rs367661800 0.00024
NM_001458.5(FLNC):c.5221G>A (p.Glu1741Lys) rs200792813 0.00024
NM_007078.3(LDB3):c.1606G>A (p.Val536Ile) rs113817827 0.00024
NM_016599.5(MYOZ2):c.146A>G (p.His49Arg) rs148908208 0.00024
NM_017636.4(TRPM4):c.566C>T (p.Ala189Val) rs145501662 0.00024
NM_020778.5(ALPK3):c.1412C>T (p.Thr471Ile) rs143709902 0.00024
NM_020778.5(ALPK3):c.4156A>G (p.Met1386Val) rs149627415 0.00024
NM_032578.4(MYPN):c.2321C>A (p.Ser774Tyr) rs140933016 0.00024
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00023
NM_000088.4(COL1A1):c.3849C>A (p.Asn1283Lys) rs199911681 0.00023
NM_000335.5(SCN5A):c.5182G>A (p.Asp1728Asn) rs763880032 0.00023
NM_001105206.3(LAMA4):c.503G>A (p.Arg168Lys) rs200368819 0.00023
NM_001267550.2(TTN):c.106675G>C (p.Glu35559Gln) rs199632397 0.00023
NM_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) rs202032875 0.00023
NM_001365276.2(TNXB):c.6358G>A (p.Gly2120Ser) rs777574450 0.00023
NM_001378454.1(ALMS1):c.11070C>T (p.Gly3690=) rs371329585 0.00023
NM_006440.5(TXNRD2):c.77T>G (p.Val26Gly) rs925920723 0.00023
NM_020778.5(ALPK3):c.832G>A (p.Gly278Arg) rs573106150 0.00023
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001105206.3(LAMA4):c.4645A>T (p.Asn1549Tyr) rs141261442 0.00022
NM_001105206.3(LAMA4):c.578C>T (p.Ser193Leu) rs147870828 0.00022
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln) rs199710082 0.00022
NM_001267550.2(TTN):c.70817T>C (p.Met23606Thr) rs371030086 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 0.00022
NM_001365276.2(TNXB):c.2623G>A (p.Val875Ile) rs377480086 0.00022
NM_001378454.1(ALMS1):c.12044G>A (p.Gly4015Asp) rs200462734 0.00022
NM_001378454.1(ALMS1):c.3689G>A (p.Gly1230Glu) rs372619046 0.00022
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00022
NM_001378454.1(ALMS1):c.5918C>A (p.Pro1973Gln) rs199615641 0.00022
NM_002471.4(MYH6):c.5201C>T (p.Ser1734Leu) rs151324358 0.00022
NM_004444.5(EPHB4):c.40G>A (p.Ala14Thr) rs139513482 0.00022
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750 0.00022
NM_017636.4(TRPM4):c.2820G>T (p.Trp940Cys) rs199905308 0.00022
NM_020778.5(ALPK3):c.3026G>A (p.Arg1009Gln) rs138597569 0.00022
NM_024422.6(DSC2):c.854T>C (p.Ile285Thr) rs199918720 0.00022
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000152.5(GAA):c.2323C>A (p.Leu775Met) rs147290429 0.00021
NM_000237.3(LPL):c.1342G>A (p.Glu448Lys) rs149089920 0.00021
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_000384.3(APOB):c.10476T>A (p.Ile3492=) rs139929439 0.00021
NM_000384.3(APOB):c.10708C>T (p.His3570Tyr) rs201736972 0.00021
NM_001035.3(RYR2):c.2389G>A (p.Gly797Arg) rs200121281 0.00021
NM_001035.3(RYR2):c.2613+4C>G rs371880082 0.00021
NM_001103.4(ACTN2):c.1106C>T (p.Ser369Leu) rs747400815 0.00021
NM_001267550.2(TTN):c.50850C>A (p.Asp16950Glu) rs200700386 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001267550.2(TTN):c.55852T>C (p.Cys18618Arg) rs369260968 0.00021
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) rs191927501 0.00021
NM_001267550.2(TTN):c.69140T>C (p.Val23047Ala) rs368697152 0.00021
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377 0.00021
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_001365276.2(TNXB):c.2366G>A (p.Gly789Glu) rs367834992 0.00021
NM_001367624.2(ZNF469):c.5915G>T (p.Gly1972Val) rs573931575 0.00021
NM_001378454.1(ALMS1):c.3278C>T (p.Pro1093Leu) rs766187468 0.00021
NM_001458.5(FLNC):c.2635C>T (p.Arg879Cys) rs374983276 0.00021
NM_001458.5(FLNC):c.7499G>A (p.Ser2500Asn) rs371244800 0.00021
NM_001927.4(DES):c.166G>C (p.Val56Leu) rs578066781 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_003480.4(MFAP5):c.341G>A (p.Arg114Gln) rs774489509 0.00021
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708 0.00021
NM_004415.4(DSP):c.5035C>T (p.His1679Tyr) rs762561997 0.00021
NM_006393.3(NEBL):c.82-4A>G rs368268112 0.00021
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866 0.00021
NM_020778.5(ALPK3):c.1589G>A (p.Arg530Gln) rs150733634 0.00021
NM_020778.5(ALPK3):c.3596G>A (p.Ser1199Asn) rs372009130 0.00021
NM_020778.5(ALPK3):c.80G>A (p.Gly27Asp) rs931782668 0.00021
NM_024422.6(DSC2):c.2546A>C (p.His849Pro) rs184487763 0.00021
NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu) rs149979176 0.00021
NM_000384.3(APOB):c.12959T>C (p.Met4320Thr) rs377127458 0.00020
NM_000384.3(APOB):c.3724T>A (p.Ser1242Thr) rs200261177 0.00020
NM_001035.3(RYR2):c.13303A>G (p.Thr4435Ala) rs374019555 0.00020
NM_001035.3(RYR2):c.1939C>T (p.Arg647Cys) rs202040519 0.00020
NM_001267550.2(TTN):c.104516G>A (p.Arg34839Gln) rs371628882 0.00020
NM_001267550.2(TTN):c.48460+5G>A rs374413644 0.00020
NM_001267550.2(TTN):c.63352C>T (p.Arg21118Trp) rs200726948 0.00020
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707 0.00020
NM_001289808.2(CRYAB):c.116C>T (p.Pro39Leu) rs149787233 0.00020
NM_001367624.2(ZNF469):c.4907A>G (p.His1636Arg) rs557636016 0.00020
NM_001378454.1(ALMS1):c.8240T>G (p.Val2747Gly) rs188857186 0.00020
NM_174936.4(PCSK9):c.499C>T (p.Arg167Trp) rs137878146 0.00020
NM_000071.3(CBS):c.397G>A (p.Asp133Asn) rs539326697 0.00019
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000219.6(KCNE1):c.200G>A (p.Arg67His) rs79654911 0.00019
NM_000219.6(KCNE1):c.83C>T (p.Ser28Leu) rs199473350 0.00019
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe) rs375776406 0.00019
NM_000335.5(SCN5A):c.1943C>T (p.Pro648Leu) rs45609733 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_001105206.3(LAMA4):c.668G>A (p.Arg223His) rs200017155 0.00019
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg) rs397516625 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.101281C>T (p.Arg33761Trp) rs201421156 0.00019
NM_001267550.2(TTN):c.104690C>T (p.Ser34897Leu) rs373446383 0.00019
NM_001267550.2(TTN):c.3170T>C (p.Val1057Ala) rs145940356 0.00019
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.68437G>A (p.Glu22813Lys) rs200797552 0.00019
NM_001267550.2(TTN):c.78064G>A (p.Val26022Ile) rs374764110 0.00019
NM_001378454.1(ALMS1):c.3379C>T (p.Pro1127Ser) rs182127619 0.00019
NM_001378454.1(ALMS1):c.4049A>G (p.His1350Arg) rs373366352 0.00019
NM_001378454.1(ALMS1):c.7288A>C (p.Ser2430Arg) rs539112266 0.00019
NM_001378454.1(ALMS1):c.8416T>G (p.Phe2806Val) rs763332859 0.00019
NM_001378454.1(ALMS1):c.8644C>T (p.Leu2882Phe) rs373944325 0.00019
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) rs369387744 0.00019
NM_001458.5(FLNC):c.2296C>T (p.Arg766Trp) rs200215340 0.00019
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln) rs199804244 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_002471.4(MYH6):c.3598G>C (p.Asp1200His) rs372794975 0.00019
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_003098.3(SNTA1):c.1157C>T (p.Pro386Leu) rs200865199 0.00019
NM_003480.4(MFAP5):c.442C>T (p.Pro148Ser) rs148770543 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_004982.4(KCNJ8):c.263C>G (p.Ala88Gly) rs117808169 0.00019
NM_006073.4(TRDN):c.1537+1G>A rs189125299 0.00019
NM_006440.5(TXNRD2):c.221C>G (p.Ser74Cys) rs200942544 0.00019
NM_006440.5(TXNRD2):c.662C>T (p.Thr221Met) rs188258380 0.00019
NM_014000.3(VCL):c.2969C>T (p.Ala990Val) rs150595117 0.00019
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) rs141868759 0.00019
NM_017636.4(TRPM4):c.1409A>G (p.Asn470Ser) rs746075675 0.00019
NM_017636.4(TRPM4):c.2774A>C (p.Lys925Thr) rs752778561 0.00019
NM_022437.3(ABCG8):c.1629G>T (p.Arg543Ser) rs201690654 0.00019
NM_022437.3(ABCG8):c.1753A>T (p.Thr585Ser) rs371166792 0.00019
NM_030777.4(SLC2A10):c.781G>A (p.Val261Ile) rs372561968 0.00019
NM_174934.4(SCN4B):c.520A>G (p.Ile174Val) rs377730779 0.00019
NM_201596.3(CACNB2):c.1055C>T (p.Ala352Val) rs144367884 0.00019
NM_201596.3(CACNB2):c.634G>C (p.Val212Leu) rs149167651 0.00019
NM_000256.3(MYBPC3):c.407-5C>T rs371312567 0.00018
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met) rs727505067 0.00018
NM_001148.6(ANK2):c.10702C>T (p.Arg3568Trp) rs72556376 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.58072C>T (p.Arg19358Cys) rs371973579 0.00018
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) rs201922910 0.00018
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp) rs200728232 0.00018
NM_001267550.2(TTN):c.96928A>C (p.Thr32310Pro) rs542208825 0.00018
NM_001365276.2(TNXB):c.8371G>A (p.Val2791Met) rs369350764 0.00018
NM_001365276.2(TNXB):c.9460A>G (p.Thr3154Ala) rs777498453 0.00018
NM_001367624.2(ZNF469):c.7523C>T (p.Ala2508Val) rs570690992 0.00018
NM_001378454.1(ALMS1):c.2893T>C (p.Tyr965His) rs201180147 0.00018
NM_001378454.1(ALMS1):c.649A>G (p.Ile217Val) rs200944504 0.00018
NM_001458.5(FLNC):c.7108G>A (p.Gly2370Ser) rs201917318 0.00018
NM_004006.3(DMD):c.94-3C>T rs373907950 0.00018
NM_004982.4(KCNJ8):c.332A>G (p.Glu111Gly) rs138391404 0.00018
NM_005477.3(HCN4):c.302C>T (p.Ala101Val) rs781730381 0.00018
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val) rs141569007 0.00018
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_017636.4(TRPM4):c.1783C>G (p.Leu595Val) rs144812913 0.00018
NM_022773.4(LMF1):c.688C>T (p.Arg230Trp) rs376563644 0.00018
NM_001005242.3(PKP2):c.928G>A (p.Val310Met) rs768396351 0.00017
NM_001267550.2(TTN):c.12844A>C (p.Ile4282Leu) rs56244420 0.00017
NM_001267550.2(TTN):c.51683C>T (p.Ala17228Val) rs370644359 0.00017
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) rs727504191 0.00017
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) rs200697681 0.00017
NM_001365276.2(TNXB):c.9580G>A (p.Asp3194Asn) rs200036158 0.00017
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) rs281865149 0.00017
NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala) rs546332627 0.00017
NM_001378454.1(ALMS1):c.3812C>A (p.Pro1271Gln) rs372563916 0.00017
NM_003673.4(TCAP):c.187C>T (p.Arg63Cys) rs758048577 0.00017
NM_005633.4(SOS1):c.3347-1G>A rs141565234 0.00017
NM_005751.5(AKAP9):c.9113G>A (p.Arg3038His) rs756856124 0.00017
NM_006073.4(TRDN):c.419A>G (p.Lys140Arg) rs200953683 0.00017
NM_014391.3(ANKRD1):c.347C>T (p.Thr116Met) rs142354133 0.00017
NM_020297.4(ABCC9):c.4512+690C>T rs397517191 0.00017
NM_020433.5(JPH2):c.1852A>G (p.Thr618Ala) rs376612687 0.00017
NM_020778.5(ALPK3):c.2146G>A (p.Ala716Thr) rs201330184 0.00017
NM_020778.5(ALPK3):c.653C>T (p.Pro218Leu) rs373555781 0.00017
NM_022773.4(LMF1):c.441C>G (p.Asn147Lys) rs182685983 0.00017
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_000219.6(KCNE1):c.238G>A (p.Val80Ile) rs769368494 0.00016
NM_000238.4(KCNH2):c.431A>T (p.Asp144Val) rs146284716 0.00016
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys) rs137854617 0.00016
NM_000335.5(SCN5A):c.5474G>A (p.Arg1825His) rs137854610 0.00016
NM_000384.3(APOB):c.6969T>A (p.Asn2323Lys) rs138118085 0.00016
NM_000384.3(APOB):c.8882A>G (p.Asn2961Ser) rs142756262 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000722.4(CACNA2D1):c.532A>G (p.Ile178Val) rs80063198 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_001035.3(RYR2):c.10962A>C (p.Glu3654Asp) rs547005691 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr) rs375755770 0.00016
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys) rs372048968 0.00016
NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys) rs562882648 0.00016
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr) rs376071070 0.00016
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val) rs375355193 0.00016
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu) rs766868824 0.00016
NM_001148.6(ANK2):c.11674G>A (p.Gly3892Arg) rs778797451 0.00016
NM_001232.4(CASQ2):c.1087G>A (p.Glu363Lys) rs1193520667 0.00016
NM_001267550.2(TTN):c.12011A>G (p.Glu4004Gly) rs376000381 0.00016
NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly) rs140289517 0.00016
NM_001267550.2(TTN):c.42891C>T (p.Gly14297=) rs550471556 0.00016
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp) rs139636676 0.00016
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys) rs200914097 0.00016
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val) rs182445366 0.00016
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His) rs370135374 0.00016
NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser) rs201337786 0.00016
NM_001267550.2(TTN):c.60734G>A (p.Arg20245Gln) rs575837567 0.00016
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln) rs141965360 0.00016
NM_001267550.2(TTN):c.66491A>T (p.Lys22164Ile) rs371081043 0.00016
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093 0.00016
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro) rs201091376 0.00016
NM_001267550.2(TTN):c.81673G>A (p.Val27225Ile) rs375211424 0.00016
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg) rs375198596 0.00016
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045 0.00016
NM_001367624.2(ZNF469):c.3931C>T (p.Pro1311Ser) rs187453092 0.00016
NM_001458.5(FLNC):c.1081C>T (p.Arg361Cys) rs200206944 0.00016
NM_001458.5(FLNC):c.1108A>G (p.Met370Val) rs370406338 0.00016
NM_001458.5(FLNC):c.2163C>A (p.Asn721Lys) rs370539335 0.00016
NM_001458.5(FLNC):c.2747G>A (p.Arg916Gln) rs143720860 0.00016
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly) rs148545460 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_001943.5(DSG2):c.2434G>A (p.Gly812Ser) rs121913010 0.00016
NM_002317.7(LOX):c.235G>A (p.Ala79Thr) rs752839330 0.00016
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_002474.3(MYH11):c.3291C>T (p.Ala1097=) rs147605116 0.00016
NM_003476.5(CSRP3):c.175A>G (p.Lys59Glu) rs769003538 0.00016
NM_004006.3(DMD):c.8212T>C (p.Trp2738Arg) rs372600090 0.00016
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly) rs377098318 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_005633.4(SOS1):c.2966G>A (p.Arg989Lys) rs202043599 0.00016
NM_006073.4(TRDN):c.1282C>T (p.Arg428Ter) rs202219343 0.00016
NM_006073.4(TRDN):c.85G>A (p.Gly29Arg) rs763469367 0.00016
NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr) rs749057584 0.00016
NM_006440.5(TXNRD2):c.591+1G>C rs200610775 0.00016
NM_007078.3(LDB3):c.690-4621A>G rs370053163 0.00016
NM_007078.3(LDB3):c.769G>C (p.Glu257Gln) rs143996848 0.00016
NM_014391.3(ANKRD1):c.234A>T (p.Arg78Ser) rs141376679 0.00016
NM_014476.6(PDLIM3):c.896G>A (p.Ser299Asn) rs143812960 0.00016
NM_014908.4(DOLK):c.1257C>G (p.Ile419Met) rs138962748 0.00016
NM_017636.4(TRPM4):c.3224T>C (p.Leu1075Pro) rs144421653 0.00016
NM_018699.4(PRDM5):c.1339T>A (p.Leu447Ile) rs193201534 0.00016
NM_020778.5(ALPK3):c.4081C>T (p.Leu1361Phe) rs780101092 0.00016
NM_020778.5(ALPK3):c.4765C>T (p.Leu1589Phe) rs1012634268 0.00016
NM_022437.3(ABCG8):c.1486A>G (p.Lys496Glu) rs762225826 0.00016
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln) rs140217866 0.00016
NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr) rs574205422 0.00015
NM_000218.3(KCNQ1):c.1459G>A (p.Glu487Lys) rs1205552952 0.00015
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_000384.3(APOB):c.4970C>T (p.Thr1657Met) rs144239254 0.00015
NM_000384.3(APOB):c.7577T>C (p.Met2526Thr) rs373272476 0.00015
NM_001035.3(RYR2):c.6022+5G>A rs376389213 0.00015
NM_001077653.2(TBX20):c.1309C>T (p.Arg437Cys) rs200704561 0.00015
NM_001105206.3(LAMA4):c.4792G>T (p.Ala1598Ser) rs202176359 0.00015
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro) rs369992659 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001267550.2(TTN):c.56255C>T (p.Pro18752Leu) rs200132226 0.00015
NM_001365276.2(TNXB):c.1480A>T (p.Thr494Ser) rs770149701 0.00015
NM_001365276.2(TNXB):c.209A>G (p.Gln70Arg) rs199581373 0.00015
NM_001365276.2(TNXB):c.5155G>A (p.Val1719Met) rs200125936 0.00015
NM_001367624.2(ZNF469):c.5341G>A (p.Gly1781Ser) rs555047442 0.00015
NM_001368067.1(LDB3):c.511G>A (p.Ala171Thr) rs373632943 0.00015
NM_001378454.1(ALMS1):c.5276A>G (p.Tyr1759Cys) rs200293447 0.00015
NM_001378454.1(ALMS1):c.6812A>G (p.Asn2271Ser) rs111659663 0.00015
NM_001378454.1(ALMS1):c.9145A>G (p.Ile3049Val) rs202228570 0.00015
NM_001458.5(FLNC):c.3304C>T (p.Pro1102Ser) rs199707920 0.00015
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg) rs751650734 0.00015
NM_001458.5(FLNC):c.970-4A>G rs532143625 0.00015
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp) rs730880478 0.00015
NM_002317.7(LOX):c.308G>C (p.Arg103Pro) rs200513395 0.00015
NM_002474.3(MYH11):c.1749+4C>G rs776271431 0.00015
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
NM_004100.5(EYA4):c.415T>A (p.Ser139Thr) rs146999911 0.00015
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys) rs397517226 0.00015
NM_014908.4(DOLK):c.1324G>A (p.Ala442Thr) rs143641133 0.00015
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_017636.4(TRPM4):c.857C>T (p.Thr286Met) rs775793134 0.00015
NM_020433.5(JPH2):c.1465G>A (p.Gly489Arg) rs1446439010 0.00015
NM_020778.4(ALPK3):c.154C>T (p.Pro52Ser) rs373853510 0.00015
NM_020778.4(ALPK3):c.374C>T (p.Ala125Val) rs539539451 0.00015
NM_020778.5(ALPK3):c.2831G>A (p.Gly944Glu) rs558514709 0.00015
NM_022437.3(ABCG8):c.1845G>C (p.Met615Ile) rs371711306 0.00015
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_181486.4(TBX5):c.1381G>A (p.Val461Met) rs201152128 0.00015
NM_000088.4(COL1A1):c.2944C>A (p.Pro982Thr) rs141117382 0.00014
NM_000088.4(COL1A1):c.3061G>C (p.Glu1021Gln) rs139593707 0.00014
NM_000235.4(LIPA):c.662A>G (p.Asp221Gly) rs145163592 0.00014
NM_000335.5(SCN5A):c.1425A>C (p.Arg475Ser) rs199473116 0.00014
NM_000384.3(APOB):c.2914G>A (p.Gly972Ser) rs199893862 0.00014
NM_000384.3(APOB):c.6941T>C (p.Leu2314Pro) rs372035579 0.00014
NM_000719.7(CACNA1C):c.4075-4C>A rs369044605 0.00014
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr) rs115622575 0.00014
NM_001035.3(RYR2):c.1476+4C>T rs369442980 0.00014
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001035.3(RYR2):c.8378G>A (p.Arg2793Gln) rs559773178 0.00014
NM_001077653.2(TBX20):c.1310G>A (p.Arg437His) rs375484585 0.00014
NM_001079802.2(FKTN):c.383G>A (p.Arg128Gln) rs146049441 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.1541G>A (p.Arg514Gln) rs146358872 0.00014
NM_001105206.3(LAMA4):c.4493G>A (p.Arg1498His) rs147556641 0.00014
NM_001105206.3(LAMA4):c.910G>A (p.Gly304Arg) rs191391557 0.00014
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) rs397516596 0.00014
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu) rs730880184 0.00014
NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met) rs371181124 0.00014
NM_001232.4(CASQ2):c.338G>A (p.Ser113Asn) rs199750975 0.00014
NM_001267550.2(TTN):c.103434C>A (p.Asp34478Glu) rs376371272 0.00014
NM_001267550.2(TTN):c.103585_103599del (p.Glu34529_Glu34533del) rs772286988 0.00014
NM_001267550.2(TTN):c.14639C>T (p.Ala4880Val) rs373683445 0.00014
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878 0.00014
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln) rs374656017 0.00014
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00014
NM_001267550.2(TTN):c.80666A>G (p.Tyr26889Cys) rs571328201 0.00014
NM_001267550.2(TTN):c.81517C>G (p.Pro27173Ala) rs754325718 0.00014
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001267550.2(TTN):c.86002A>G (p.Ile28668Val) rs72648225 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.9795A>C (p.Arg3265Ser) rs141708467 0.00014
NM_001378454.1(ALMS1):c.10533G>T (p.Trp3511Cys) rs761712682 0.00014
NM_001378454.1(ALMS1):c.5466T>A (p.His1822Gln) rs201677365 0.00014
NM_001458.5(FLNC):c.1259G>A (p.Arg420Gln) rs371410741 0.00014
NM_001458.5(FLNC):c.3242C>T (p.Ala1081Val) rs200169573 0.00014
NM_001458.5(FLNC):c.4367G>C (p.Gly1456Ala) rs775049569 0.00014
NM_001458.5(FLNC):c.5432G>A (p.Arg1811Gln) rs369759751 0.00014
NM_001927.4(DES):c.893C>T (p.Ser298Leu) rs62636491 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_002471.4(MYH6):c.346-2A>G rs141187241 0.00014
NM_002890.3(RASA1):c.2470A>T (p.Ser824Cys) rs151119180 0.00014
NM_003673.4(TCAP):c.337C>T (p.Leu113Phe) rs372312912 0.00014
NM_004006.3(DMD):c.2260G>T (p.Gly754Cys) rs369017141 0.00014
NM_004006.3(DMD):c.3805C>T (p.His1269Tyr) rs151150099 0.00014
NM_004281.4(BAG3):c.1634C>G (p.Pro545Arg) rs759348679 0.00014
NM_004415.4(DSP):c.1534A>G (p.Ile512Val) rs202025438 0.00014
NM_004415.4(DSP):c.521G>T (p.Cys174Phe) rs377507763 0.00014
NM_005188.4(CBL):c.2513G>T (p.Gly838Val) rs144191570 0.00014
NM_005751.5(AKAP9):c.10741T>G (p.Cys3581Gly) rs149819328 0.00014
NM_005751.5(AKAP9):c.1900G>A (p.Glu634Lys) rs368006874 0.00014
NM_005751.5(AKAP9):c.3164C>A (p.Ser1055Tyr) rs373730126 0.00014
NM_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp) rs61736941 0.00014
NM_006440.5(TXNRD2):c.199G>A (p.Val67Met) rs372803804 0.00014
NM_006440.5(TXNRD2):c.259G>A (p.Val87Ile) rs201658653 0.00014
NM_014000.3(VCL):c.2828_2829del (p.Pro943fs) rs781036800 0.00014
NM_014476.6(PDLIM3):c.683C>T (p.Pro228Leu) rs201185673 0.00014
NM_014908.4(DOLK):c.1438A>G (p.Ile480Val) rs144209926 0.00014
NM_017636.4(TRPM4):c.742C>T (p.Arg248Cys) rs373749900 0.00014
NM_017636.4(TRPM4):c.754C>T (p.Arg252Cys) rs771728837 0.00014
NM_020778.5(ALPK3):c.175T>C (p.Ser59Pro) rs750401200 0.00014
NM_020778.5(ALPK3):c.301A>G (p.Thr101Ala) rs199645892 0.00014
NM_020778.5(ALPK3):c.3662C>T (p.Ala1221Val) rs557058818 0.00014
NM_020778.5(ALPK3):c.3832C>T (p.Arg1278Trp) rs201413329 0.00014
NM_020778.5(ALPK3):c.712C>T (p.Pro238Ser) rs138094037 0.00014
NM_022436.3(ABCG5):c.226G>A (p.Val76Met) rs368811625 0.00014
NM_032578.4(MYPN):c.845A>G (p.Glu282Gly) rs146336815 0.00014
NM_000088.4(COL1A1):c.3233T>C (p.Val1078Ala) rs767525556 0.00013
NM_000089.4(COL1A2):c.1464G>T (p.Glu488Asp) rs148802548 0.00013
NM_000152.5(GAA):c.2381G>A (p.Arg794His) rs200505871 0.00013
NM_000218.3(KCNQ1):c.1189C>T (p.Arg397Trp) rs199472776 0.00013
NM_000335.5(SCN5A):c.5857G>A (p.Glu1953Lys) rs397517956 0.00013
NM_000384.3(APOB):c.2611G>A (p.Ala871Thr) rs144622446 0.00013
NM_000890.5(KCNJ5):c.439G>A (p.Glu147Lys) rs148355179 0.00013
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618 0.00013
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) rs200112094 0.00013
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) rs137893207 0.00013
NM_001134363.3(RBM20):c.1129G>A (p.Gly377Ser) rs923358109 0.00013
NM_001267550.2(TTN):c.103912C>T (p.Arg34638Cys) rs374444254 0.00013
NM_001267550.2(TTN):c.12889T>G (p.Cys4297Gly) rs377063950 0.00013
NM_001267550.2(TTN):c.23675T>C (p.Ile7892Thr) rs201181445 0.00013
NM_001267550.2(TTN):c.3619C>A (p.Pro1207Thr) rs373753003 0.00013
NM_001267550.2(TTN):c.62681G>T (p.Cys20894Phe) rs370080086 0.00013
NM_001267550.2(TTN):c.7767G>T (p.Leu2589Phe) rs372080212 0.00013
NM_001267550.2(TTN):c.81794C>T (p.Thr27265Ile) rs371129005 0.00013
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) rs201422612 0.00013
NM_001267550.2(TTN):c.92170G>C (p.Gly30724Arg) rs370928582 0.00013
NM_001267550.2(TTN):c.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001267550.2(TTN):c.95245G>A (p.Glu31749Lys) rs139542862 0.00013
NM_001365276.2(TNXB):c.2981G>A (p.Arg994His) rs372167278 0.00013
NM_001365276.2(TNXB):c.5491G>A (p.Val1831Met) rs188124424 0.00013
NM_001365276.2(TNXB):c.8761G>A (p.Val2921Met) rs529485424 0.00013
NM_001367624.2(ZNF469):c.11033G>A (p.Ser3678Asn) rs781084356 0.00013
NM_001367624.2(ZNF469):c.4651G>A (p.Val1551Ile) rs143740518 0.00013
NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu) rs777666112 0.00013
NM_001378454.1(ALMS1):c.11213G>A (p.Arg3738Gln) rs200378498 0.00013
NM_001378454.1(ALMS1):c.121G>C (p.Val41Leu) rs201868751 0.00013
NM_001378454.1(ALMS1):c.12251G>T (p.Arg4084Met) rs375314465 0.00013
NM_001378454.1(ALMS1):c.4394C>T (p.Thr1465Met) rs200980776 0.00013
NM_001378454.1(ALMS1):c.6361G>C (p.Val2121Leu) rs200368564 0.00013
NM_001378454.1(ALMS1):c.9880G>C (p.Asp3294His) rs200441305 0.00013
NM_001458.5(FLNC):c.2297G>A (p.Arg766Gln) rs369935650 0.00013
NM_001458.5(FLNC):c.4480C>T (p.Arg1494Trp) rs779079128 0.00013
NM_002471.4(MYH6):c.2383C>T (p.Arg795Trp) rs202120238 0.00013
NM_002880.4(RAF1):c.94A>G (p.Ile32Val) rs372738063 0.00013
NM_004006.3(DMD):c.357+5G>A rs778431187 0.00013
NM_004006.3(DMD):c.8312A>C (p.Asp2771Ala) rs376720228 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_005633.4(SOS1):c.3946C>G (p.His1316Asp) rs371024396 0.00013
NM_005751.5(AKAP9):c.3934A>C (p.Thr1312Pro) rs139337441 0.00013
NM_006073.4(TRDN):c.591A>C (p.Glu197Asp) rs751143632 0.00013
NM_007078.3(LDB3):c.1253C>G (p.Pro418Arg) rs141870580 0.00013
NM_014000.3(VCL):c.1403C>T (p.Thr468Met) rs147957747 0.00013
NM_016599.5(MYOZ2):c.583T>A (p.Phe195Ile) rs554299359 0.00013
NM_017636.4(TRPM4):c.3034G>A (p.Val1012Ile) rs182262420 0.00013
NM_017636.4(TRPM4):c.856A>G (p.Thr286Ala) rs151205002 0.00013
NM_020433.5(JPH2):c.1357C>T (p.Pro453Ser) rs556886570 0.00013
NM_020778.5(ALPK3):c.1226A>G (p.Gln409Arg) rs765187060 0.00013
NM_020778.5(ALPK3):c.1586C>T (p.Ala529Val) rs202032410 0.00013
NM_020778.5(ALPK3):c.3647C>T (p.Thr1216Met) rs767667447 0.00013
NM_022437.3(ABCG8):c.275G>A (p.Ser92Asn) rs372921526 0.00013
NM_130468.4(CHST14):c.796T>C (p.Tyr266His) rs377155775 0.00013
NM_000088.4(COL1A1):c.4030G>A (p.Asp1344Asn) rs371547661 0.00012
NM_000116.5(TAFAZZIN):c.562G>A (p.Glu188Lys) rs375663114 0.00012
NM_000335.5(SCN5A):c.1984G>T (p.Ala662Ser) rs371313714 0.00012
NM_000335.5(SCN5A):c.2071G>A (p.Ala691Thr) rs199473146 0.00012
NM_000384.3(APOB):c.1343C>T (p.Ala448Val) rs148167725 0.00012
NM_000384.3(APOB):c.2258G>A (p.Gly753Glu) rs148502464 0.00012
NM_000384.3(APOB):c.8173A>C (p.Thr2725Pro) rs201461940 0.00012
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly) rs374177870 0.00012
NM_001005242.3(PKP2):c.1379-2005A>G rs397516995 0.00012
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_001134363.3(RBM20):c.1027C>T (p.His343Tyr) rs112226602 0.00012
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477 0.00012
NM_001267550.2(TTN):c.1399-3C>T rs397517486 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.40973A>G (p.Lys13658Arg) rs184713215 0.00012
NM_001267550.2(TTN):c.48683G>A (p.Arg16228His) rs368806005 0.00012
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00012
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser) rs372802352 0.00012
NM_001267550.2(TTN):c.69338G>A (p.Arg23113Gln) rs370890454 0.00012
NM_001267550.2(TTN):c.71911T>C (p.Trp23971Arg) rs373717147 0.00012
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys) rs200028088 0.00012
NM_001267550.2(TTN):c.80160T>G (p.Ile26720Met) rs376363284 0.00012
NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met) rs201998913 0.00012
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser) rs373722546 0.00012
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys) rs775591945 0.00012
NM_001365276.2(TNXB):c.3038G>A (p.Arg1013His) rs200322894 0.00012
NM_001365276.2(TNXB):c.9083G>A (p.Arg3028His) rs189416175 0.00012
NM_001365276.2(TNXB):c.9455G>C (p.Ser3152Thr) rs533227887 0.00012
NM_001367624.2(ZNF469):c.10354G>A (p.Gly3452Ser) rs548646578 0.00012
NM_001367624.2(ZNF469):c.4316C>T (p.Thr1439Met) rs752630858 0.00012
NM_001367624.2(ZNF469):c.4675G>A (p.Glu1559Lys) rs376951144 0.00012
NM_001378454.1(ALMS1):c.11611A>T (p.Asn3871Tyr) rs368957150 0.00012
NM_001378454.1(ALMS1):c.11689G>A (p.Gly3897Ser) rs187887110 0.00012
NM_001458.5(FLNC):c.5426C>T (p.Thr1809Met) rs369118592 0.00012
NM_001458.5(FLNC):c.6689G>A (p.Arg2230His) rs376035195 0.00012
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142 0.00012
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_002890.3(RASA1):c.412C>T (p.Pro138Ser) rs775315018 0.00012
NM_004006.3(DMD):c.10643C>T (p.Thr3548Ile) rs139492098 0.00012
NM_004006.3(DMD):c.9479G>A (p.Arg3160His) rs771392678 0.00012
NM_004415.4(DSP):c.3600T>G (p.Asn1200Lys) rs202049575 0.00012
NM_004588.5(SCN2B):c.250C>T (p.Arg84Cys) rs760669515 0.00012
NM_005472.5(KCNE3):c.26C>T (p.Thr9Ile) rs139040374 0.00012
NM_005477.3(HCN4):c.3220C>T (p.Leu1074Phe) rs200399862 0.00012
NM_006440.5(TXNRD2):c.623G>A (p.Ser208Asn) rs201531690 0.00012
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys) rs147349145 0.00012
NM_016203.4(PRKAG2):c.1496A>G (p.Gln499Arg) rs781741013 0.00012
NM_018699.4(PRDM5):c.248G>A (p.Arg83His) rs201945549 0.00012
NM_020778.5(ALPK3):c.3704C>T (p.Ala1235Val) rs200282192 0.00012
NM_020778.5(ALPK3):c.3818-3C>T rs758948501 0.00012
NM_032578.4(MYPN):c.3913A>G (p.Met1305Val) rs730880170 0.00012
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg) rs139380315 0.00011
NM_000088.4(COL1A1):c.144T>A (p.His48Gln) rs374065372 0.00011
NM_000089.4(COL1A2):c.2687C>T (p.Pro896Leu) rs202068380 0.00011
NM_000089.4(COL1A2):c.2905G>A (p.Val969Met) rs765448220 0.00011
NM_000117.3(EMD):c.598T>C (p.Trp200Arg) rs374981936 0.00011
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654 0.00011
NM_000214.3(JAG1):c.2666G>A (p.Arg889Gln) rs149419694 0.00011
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951 0.00011
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp) rs377723772 0.00011
NM_000219.6(KCNE1):c.23C>T (p.Ala8Val) rs199473348 0.00011
NM_000238.4(KCNH2):c.3089C>T (p.Pro1030Leu) rs904066540 0.00011
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.598A>G (p.Ser200Gly) rs370554185 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_000335.5(SCN5A):c.1019G>A (p.Arg340Gln) rs191009474 0.00011
NM_000335.5(SCN5A):c.1333C>G (p.His445Asp) rs199473112 0.00011
NM_000384.3(APOB):c.4111G>A (p.Ala1371Thr) rs780170292 0.00011
NM_000384.3(APOB):c.574G>A (p.Val192Ile) rs200662943 0.00011
NM_000719.7(CACNA1C):c.4942G>A (p.Ala1648Thr) rs370432385 0.00011
NM_000722.4(CACNA2D1):c.897G>C (p.Gln299His) rs141238313 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_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.6793-3C>T rs372314209 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001077653.2(TBX20):c.457G>A (p.Val153Ile) rs776152314 0.00011
NM_001105206.3(LAMA4):c.3283-3C>G rs374159760 0.00011
NM_001105206.3(LAMA4):c.5345G>A (p.Arg1782His) rs782638314 0.00011
NM_001105206.3(LAMA4):c.952A>G (p.Ile318Val) rs141372605 0.00011
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile) rs183770014 0.00011
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) rs397516622 0.00011
NM_001148.6(ANK2):c.11641A>G (p.Thr3881Ala) rs373688313 0.00011
NM_001159699.2(FHL1):c.787G>A (p.Asp263Asn) rs754308516 0.00011
NM_001267550.2(TTN):c.100226G>A (p.Cys33409Tyr) rs201112096 0.00011
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) rs200716018 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala) rs138750421 0.00011
NM_001267550.2(TTN):c.3940A>G (p.Met1314Val) rs764249439 0.00011
NM_001267550.2(TTN):c.45247C>T (p.Arg15083Trp) rs199834143 0.00011
NM_001267550.2(TTN):c.54685G>A (p.Val18229Met) rs116142642 0.00011
NM_001267550.2(TTN):c.56693G>A (p.Arg18898His) rs572453785 0.00011
NM_001267550.2(TTN):c.59489A>G (p.Lys19830Arg) rs764259290 0.00011
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile) rs751354601 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met) rs779064962 0.00011
NM_001267550.2(TTN):c.7618C>T (p.Arg2540Cys) rs368574470 0.00011
NM_001267550.2(TTN):c.86911G>A (p.Gly28971Arg) rs368921501 0.00011
NM_001267550.2(TTN):c.88123C>T (p.Arg29375Cys) rs368439674 0.00011
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp) rs373900294 0.00011
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys) rs368932767 0.00011
NM_001267550.2(TTN):c.97198C>A (p.Pro32400Thr) rs373876117 0.00011
NM_001267550.2(TTN):c.9811T>G (p.Ser3271Ala) rs556720151 0.00011
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met) rs372302484 0.00011
NM_001365276.2(TNXB):c.10457C>T (p.Thr3486Met) rs368518664 0.00011
NM_001365276.2(TNXB):c.2390G>A (p.Arg797Gln) rs201123945 0.00011
NM_001365276.2(TNXB):c.9779C>T (p.Pro3260Leu) rs557119336 0.00011
NM_001367624.2(ZNF469):c.1909C>T (p.Pro637Ser) rs997748968 0.00011
NM_001367624.2(ZNF469):c.5707C>T (p.Arg1903Cys) rs757657013 0.00011
NM_001367624.2(ZNF469):c.7817A>C (p.Gln2606Pro) rs529250336 0.00011
NM_001378454.1(ALMS1):c.12114+4C>T rs373191489 0.00011
NM_001378454.1(ALMS1):c.12151C>T (p.Arg4051Cys) rs201874056 0.00011
NM_001378454.1(ALMS1):c.1976C>T (p.Thr659Met) rs199682595 0.00011
NM_001378454.1(ALMS1):c.2309C>T (p.Pro770Leu) rs187132771 0.00011
NM_001378454.1(ALMS1):c.5842A>G (p.Ser1948Gly) rs367728446 0.00011
NM_001378454.1(ALMS1):c.5990A>G (p.Lys1997Arg) rs150331660 0.00011
NM_001378454.1(ALMS1):c.8530C>T (p.Leu2844Phe) rs920714816 0.00011
NM_001378454.1(ALMS1):c.9359A>C (p.Lys3120Thr) rs375038066 0.00011
NM_001378969.1(KCND3):c.1702C>T (p.Arg568Cys) rs144120746 0.00011
NM_001458.5(FLNC):c.1094A>G (p.Glu365Gly) rs752027721 0.00011
NM_001458.5(FLNC):c.3853G>A (p.Gly1285Ser) rs200928780 0.00011
NM_001458.5(FLNC):c.5500C>T (p.His1834Tyr) rs377141822 0.00011
NM_001927.4(DES):c.407T>A (p.Leu136His) rs397516695 0.00011
NM_002471.4(MYH6):c.2929-3C>T rs376752266 0.00011
NM_002471.4(MYH6):c.5519A>G (p.Lys1840Arg) rs373629059 0.00011
NM_002471.4(MYH6):c.7G>A (p.Asp3Asn) rs371667049 0.00011
NM_002890.3(RASA1):c.2725A>G (p.Ile909Val) rs113316011 0.00011
NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg) rs111868331 0.00011
NM_003480.4(MFAP5):c.296G>A (p.Arg99Gln) rs756494536 0.00011
NM_003803.4(MYOM1):c.3223G>A (p.Val1075Met) rs371066861 0.00011
NM_004006.3(DMD):c.2183T>C (p.Ile728Thr) rs192004962 0.00011
NM_004006.3(DMD):c.295A>G (p.Ile99Val) rs149428656 0.00011
NM_004281.4(BAG3):c.1321A>G (p.Asn441Asp) rs201181493 0.00011
NM_004281.4(BAG3):c.415C>T (p.Arg139Trp) rs556465096 0.00011
NM_004281.4(BAG3):c.508C>T (p.Arg170Trp) rs200479768 0.00011
NM_004387.4(NKX2-5):c.885C>G (p.Phe295Leu) rs150581386 0.00011
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln) rs766933370 0.00011
NM_005751.5(AKAP9):c.1226A>C (p.His409Pro) rs138535219 0.00011
NM_005751.5(AKAP9):c.1334T>C (p.Ile445Thr) rs147302252 0.00011
NM_005751.5(AKAP9):c.6676G>A (p.Val2226Ile) rs561591139 0.00011
NM_006073.4(TRDN):c.365A>G (p.Asp122Gly) rs749353413 0.00011
NM_006440.5(TXNRD2):c.1177G>A (p.Asp393Asn) rs369142382 0.00011
NM_007078.3(LDB3):c.404C>A (p.Thr135Asn) rs1004651681 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 0.00011
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) rs377646143 0.00011
NM_017636.4(TRPM4):c.1139C>T (p.Ala380Val) rs150894548 0.00011
NM_017636.4(TRPM4):c.2289C>G (p.Cys763Trp) rs200760537 0.00011
NM_017636.4(TRPM4):c.338G>A (p.Arg113His) rs149335121 0.00011
NM_017636.4(TRPM4):c.790G>A (p.Val264Met) rs144767624 0.00011
NM_017946.4(FKBP14):c.144G>A (p.Met48Ile) rs141850025 0.00011
NM_020778.5(ALPK3):c.1036A>C (p.Ile346Leu) rs201336763 0.00011
NM_020778.5(ALPK3):c.183-5C>T rs758923137 0.00011
NM_020778.5(ALPK3):c.2701G>A (p.Glu901Lys) rs199572606 0.00011
NM_020778.5(ALPK3):c.4448A>G (p.Lys1483Arg) rs367667489 0.00011
NM_020778.5(ALPK3):c.4600G>A (p.Glu1534Lys) rs765401924 0.00011
NM_020778.5(ALPK3):c.62G>T (p.Gly21Val) rs1415475314 0.00011
NM_021167.5(GATAD1):c.512G>A (p.Arg171Lys) rs540654499 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) rs771333733 0.00011
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly) rs753297636 0.00011
NM_032578.4(MYPN):c.1012C>T (p.Arg338Cys) rs140037748 0.00011
NM_032578.4(MYPN):c.3848G>A (p.Arg1283His) rs372512501 0.00011
NM_033337.3(CAV3):c.125A>C (p.Glu42Ala) rs137901165 0.00011
NM_033337.3(CAV3):c.28G>A (p.Glu10Lys) rs139786391 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_144573.4(NEXN):c.902T>A (p.Ile301Asn) rs373878384 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_181486.4(TBX5):c.1151C>T (p.Ala384Val) rs530882236 0.00011
NM_000214.3(JAG1):c.1115C>T (p.Ser372Phe) rs772669312 0.00010
NM_000238.4(KCNH2):c.2681G>A (p.Arg894His) rs199473668 0.00010
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn) rs569452580 0.00010
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_000335.5(SCN5A):c.1597C>T (p.Arg533Cys) rs775576991 0.00010
NM_000371.4(TTR):c.140A>G (p.Asn47Ser) rs145551875 0.00010
NM_000384.3(APOB):c.1316G>A (p.Arg439Gln) rs61742990 0.00010
NM_000384.3(APOB):c.434C>T (p.Pro145Leu) rs181737266 0.00010
NM_000384.3(APOB):c.499C>T (p.Pro167Ser) rs139842930 0.00010
NM_000384.3(APOB):c.5722G>A (p.Asp1908Asn) rs751368655 0.00010
NM_000719.7(CACNA1C):c.4233-4C>T rs769538757 0.00010
NM_000719.7(CACNA1C):c.865C>A (p.Leu289Ile) rs770311259 0.00010
NM_000722.4(CACNA2D1):c.590G>A (p.Arg197His) rs375189396 0.00010
NM_001018005.2(TPM1):c.773-3T>C rs113759732 0.00010
NM_001035.3(RYR2):c.13267A>C (p.Lys4423Gln) rs376908332 0.00010
NM_001035.3(RYR2):c.13957-5C>G rs189772599 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.8590+4A>G rs778964264 0.00010
NM_001035.3(RYR2):c.9190G>A (p.Ala3064Thr) rs375482798 0.00010
NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys) rs148189507 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_001105206.3(LAMA4):c.1551+4C>T rs201209516 0.00010
NM_001105206.3(LAMA4):c.3594C>A (p.Phe1198Leu) rs530201164 0.00010
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val) rs727503387 0.00010
NM_001134363.3(RBM20):c.304C>T (p.Arg102Trp) rs794729160 0.00010
NM_001148.6(ANK2):c.961C>T (p.Arg321Trp) rs753032598 0.00010
NM_001232.4(CASQ2):c.1186G>A (p.Asp396Asn) rs368007942 0.00010
NM_001267550.2(TTN):c.102524G>A (p.Arg34175Gln) rs201954720 0.00010
NM_001267550.2(TTN):c.104522G>A (p.Arg34841His) rs373709706 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.4228G>C (p.Val1410Leu) rs576593161 0.00010
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992 0.00010
NM_001267550.2(TTN):c.63116A>C (p.Lys21039Thr) rs886038878 0.00010
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662 0.00010
NM_001267550.2(TTN):c.67445G>A (p.Arg22482Gln) rs200146608 0.00010
NM_001267550.2(TTN):c.67808C>T (p.Ala22603Val) rs199583938 0.00010
NM_001267550.2(TTN):c.6927T>A (p.Asn2309Lys) rs147580120 0.00010
NM_001267550.2(TTN):c.73783G>A (p.Ala24595Thr) rs543275318 0.00010
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00010
NM_001267550.2(TTN):c.76738A>G (p.Thr25580Ala) rs371711135 0.00010
NM_001267550.2(TTN):c.79861A>G (p.Thr26621Ala) rs372537578 0.00010
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719 0.00010
NM_001267550.2(TTN):c.8185G>A (p.Glu2729Lys) rs763702243 0.00010
NM_001267550.2(TTN):c.86471C>T (p.Thr28824Ile) rs200709344 0.00010
NM_001267550.2(TTN):c.91384C>T (p.Arg30462Trp) rs373623340 0.00010
NM_001365276.2(TNXB):c.10369G>T (p.Val3457Leu) rs199623625 0.00010
NM_001365276.2(TNXB):c.5666T>C (p.Val1889Ala) rs575571619 0.00010
NM_001365276.2(TNXB):c.961T>C (p.Cys321Arg) rs370616787 0.00010
NM_001367624.2(ZNF469):c.10185G>C (p.Glu3395Asp) rs149732077 0.00010
NM_001367624.2(ZNF469):c.6809C>A (p.Ser2270Tyr) rs273585624 0.00010
NM_001367624.2(ZNF469):c.7931G>A (p.Arg2644Gln) rs281865152 0.00010
NM_001367624.2(ZNF469):c.8654C>T (p.Pro2885Leu) rs886052413 0.00010
NM_001378454.1(ALMS1):c.11033G>A (p.Arg3678Gln) rs371007945 0.00010
NM_001378454.1(ALMS1):c.12086T>C (p.Leu4029Pro) rs372910832 0.00010
NM_001378454.1(ALMS1):c.1433-3T>C rs367710998 0.00010
NM_001378454.1(ALMS1):c.1867T>C (p.Ser623Pro) rs767987501 0.00010
NM_001378454.1(ALMS1):c.2152C>T (p.His718Tyr) rs199572177 0.00010
NM_001378454.1(ALMS1):c.3103C>T (p.Pro1035Ser) rs531648685 0.00010
NM_001458.5(FLNC):c.1102G>A (p.Val368Met) rs781718076 0.00010
NM_001458.5(FLNC):c.31G>A (p.Gly11Ser) rs370512642 0.00010
NM_001458.5(FLNC):c.4921G>A (p.Val1641Ile) rs575068215 0.00010
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00010
NM_002230.4(JUP):c.1565C>T (p.Ala522Val) rs1060502679 0.00010
NM_002471.4(MYH6):c.1347G>T (p.Glu449Asp) rs142059069 0.00010
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln) rs727503239 0.00010
NM_002471.4(MYH6):c.3346C>A (p.Arg1116Ser) rs372446459 0.00010
NM_002471.4(MYH6):c.4264C>T (p.Arg1422Trp) rs200465713 0.00010
NM_002471.4(MYH6):c.941T>C (p.Val314Ala) rs367952105 0.00010
NM_002890.3(RASA1):c.2773A>G (p.Ile925Val) rs140786299 0.00010
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124 0.00010
NM_003673.4(TCAP):c.223G>A (p.Gly75Ser) rs753744791 0.00010
NM_004006.3(DMD):c.3548G>C (p.Arg1183Thr) rs374993642 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_004444.5(EPHB4):c.236C>T (p.Pro79Leu) rs542089930 0.00010
NM_004982.4(KCNJ8):c.821G>A (p.Arg274His) rs149127157 0.00010
NM_005472.5(KCNE3):c.158G>A (p.Arg53His) rs565287436 0.00010
NM_005633.4(SOS1):c.3418T>A (p.Leu1140Ile) rs375550588 0.00010
NM_005751.5(AKAP9):c.5035C>T (p.Arg1679Cys) rs200044616 0.00010
NM_005751.5(AKAP9):c.9970G>A (p.Ala3324Thr) rs182048899 0.00010
NM_006073.4(TRDN):c.125C>T (p.Thr42Met) rs371627659 0.00010
NM_006073.4(TRDN):c.2093A>G (p.Asn698Ser) rs377368177 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_014908.4(DOLK):c.379G>A (p.Val127Met) rs752310792 0.00010
NM_014908.4(DOLK):c.898C>T (p.Leu300Phe) rs371529625 0.00010
NM_017636.4(TRPM4):c.1324C>T (p.Arg442Cys) rs148867331 0.00010
NM_017636.4(TRPM4):c.2953+5G>C rs200998908 0.00010
NM_020433.5(JPH2):c.1732C>A (p.Pro578Thr) rs746846724 0.00010
NM_020433.5(JPH2):c.1896G>C (p.Glu632Asp) rs367563723 0.00010
NM_020778.4(ALPK3):c.487A>G (p.Arg163Gly) rs1008637055 0.00010
NM_020778.5(ALPK3):c.221A>C (p.Glu74Ala) rs533505673 0.00010
NM_024301.5(FKRP):c.731G>A (p.Arg244His) rs764641619 0.00010
NM_024422.6(DSC2):c.1844C>A (p.Ser615Tyr) rs756304120 0.00010
NM_032578.4(MYPN):c.251A>G (p.Asn84Ser) rs768968410 0.00010
NM_032578.4(MYPN):c.259C>G (p.Pro87Ala) rs376945733 0.00010
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_000039.3(APOA1):c.448C>A (p.Leu150Ile) rs911528468 0.00009
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp) rs760470297 0.00009
NM_000238.4(KCNH2):c.865G>A (p.Glu289Lys) rs199472880 0.00009
NM_000256.3(MYBPC3):c.1565C>T (p.Ala522Val) rs370362589 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.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_000335.5(SCN5A):c.1889C>T (p.Thr630Met) rs777061524 0.00009
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His) rs199473145 0.00009
NM_000335.5(SCN5A):c.5035G>A (p.Ala1679Thr) rs199473294 0.00009
NM_000384.3(APOB):c.10295A>G (p.Gln3432Arg) rs759043889 0.00009
NM_000384.3(APOB):c.10402A>G (p.Met3468Val) rs149887185 0.00009
NM_000384.3(APOB):c.11233G>A (p.Val3745Ile) rs147564959 0.00009
NM_000384.3(APOB):c.11816G>A (p.Gly3939Asp) rs142828185 0.00009
NM_000384.3(APOB):c.12038T>C (p.Met4013Thr) rs144922840 0.00009
NM_000384.3(APOB):c.3972G>T (p.Lys1324Asn) rs775070656 0.00009
NM_000432.4(MYL2):c.374C>T (p.Thr125Met) rs375667565 0.00009
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_000719.7(CACNA1C):c.5138A>G (p.Asp1713Gly) rs769297492 0.00009
NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu) rs201682618 0.00009
NM_000722.4(CACNA2D1):c.1375G>C (p.Val459Leu) rs765696205 0.00009
NM_000890.5(KCNJ5):c.1151C>G (p.Pro384Arg) rs148307402 0.00009
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001010874.5(TECRL):c.-1A>T rs144018505 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.7094A>G (p.Asn2365Ser) rs369774984 0.00009
NM_001035.3(RYR2):c.7511C>T (p.Thr2504Met) rs769219555 0.00009
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_001040151.2(SCN3B):c.413C>T (p.Thr138Met) rs761964055 0.00009
NM_001077653.2(TBX20):c.418G>A (p.Val140Met) rs766745923 0.00009
NM_001103.4(ACTN2):c.2540C>T (p.Ala847Val) rs370569935 0.00009
NM_001105206.3(LAMA4):c.3817T>C (p.Phe1273Leu) rs781966924 0.00009
NM_001105206.3(LAMA4):c.4742C>G (p.Pro1581Arg) rs138830179 0.00009
NM_001114753.3(ENG):c.1133C>T (p.Ala378Val) rs143054595 0.00009
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys) rs777768807 0.00009
NM_001232.4(CASQ2):c.235C>T (p.Leu79Phe) rs771298193 0.00009
NM_001232.4(CASQ2):c.80C>T (p.Thr27Ile) rs773237428 0.00009
NM_001232.4(CASQ2):c.898G>A (p.Asp300Asn) rs376147306 0.00009
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val) rs200675195 0.00009
NM_001267550.2(TTN):c.102353G>A (p.Arg34118Gln) rs551905996 0.00009
NM_001267550.2(TTN):c.102428T>C (p.Met34143Thr) rs397517786 0.00009
NM_001267550.2(TTN):c.103993C>G (p.Leu34665Val) rs370890922 0.00009
NM_001267550.2(TTN):c.105091G>A (p.Val35031Met) rs552058608 0.00009
NM_001267550.2(TTN):c.14050G>A (p.Gly4684Arg) rs377579941 0.00009
NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr) rs143444636 0.00009
NM_001267550.2(TTN):c.47705G>A (p.Gly15902Glu) rs561284948 0.00009
NM_001267550.2(TTN):c.49363A>G (p.Thr16455Ala) rs374543277 0.00009
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln) rs142395261 0.00009
NM_001267550.2(TTN):c.53012C>T (p.Ala17671Val) rs549478203 0.00009
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro) rs369678018 0.00009
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met) rs368425364 0.00009
NM_001267550.2(TTN):c.58857A>C (p.Glu19619Asp) rs368026488 0.00009
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln) rs374914334 0.00009
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_001267550.2(TTN):c.68225-5T>C rs758273663 0.00009
NM_001267550.2(TTN):c.69638G>A (p.Arg23213His) rs374883884 0.00009
NM_001267550.2(TTN):c.71104G>T (p.Gly23702Trp) rs750853901 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001267550.2(TTN):c.72826A>T (p.Thr24276Ser) rs373204984 0.00009
NM_001267550.2(TTN):c.77047A>G (p.Ile25683Val) rs375611562 0.00009
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014 0.00009
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val) rs142391957 0.00009
NM_001267550.2(TTN):c.84466G>C (p.Gly28156Arg) rs763560084 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) rs199501185 0.00009
NM_001267550.2(TTN):c.91373G>A (p.Ser30458Asn) rs376634713 0.00009
NM_001267550.2(TTN):c.97247C>T (p.Ser32416Leu) rs377412567 0.00009
NM_001365276.2(TNXB):c.1496G>A (p.Gly499Asp) rs771249673 0.00009
NM_001365276.2(TNXB):c.2540G>A (p.Arg847Gln) rs200283439 0.00009
NM_001365276.2(TNXB):c.7685G>A (p.Arg2562Gln) rs200233352 0.00009
NM_001365276.2(TNXB):c.8726A>G (p.Lys2909Arg) rs372398179 0.00009
NM_001367624.2(ZNF469):c.11185G>A (p.Gly3729Ser) rs273585629 0.00009
NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp) rs770109867 0.00009
NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val) rs755348435 0.00009
NM_001367624.2(ZNF469):c.4001C>T (p.Pro1334Leu) rs1016116935 0.00009
NM_001367624.2(ZNF469):c.6964A>G (p.Met2322Val) rs571086007 0.00009
NM_001367624.2(ZNF469):c.8548C>T (p.Pro2850Ser) rs906063111 0.00009
NM_001368067.1(LDB3):c.433G>A (p.Gly145Ser) rs376489385 0.00009
NM_001378454.1(ALMS1):c.1061C>T (p.Thr354Ile) rs370726988 0.00009
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247 0.00009
NM_001378454.1(ALMS1):c.12119C>T (p.Ser4040Leu) rs763327026 0.00009
NM_001378454.1(ALMS1):c.3395A>G (p.Gln1132Arg) rs202114540 0.00009
NM_001378454.1(ALMS1):c.3892C>A (p.Gln1298Lys) rs770645262 0.00009
NM_001378454.1(ALMS1):c.4068G>C (p.Glu1356Asp) rs376812264 0.00009
NM_001378454.1(ALMS1):c.4199A>G (p.His1400Arg) rs371101065 0.00009
NM_001378454.1(ALMS1):c.4948C>T (p.Pro1650Ser) rs765233016 0.00009
NM_001378454.1(ALMS1):c.8C>T (p.Pro3Leu) rs914898490 0.00009
NM_001379200.1(TBX1):c.1402G>C (p.Val468Leu) rs764197422 0.00009
NM_001379200.1(TBX1):c.711C>T (p.His237=) rs200021644 0.00009
NM_001458.5(FLNC):c.1205C>T (p.Thr402Ile) rs374757755 0.00009
NM_001458.5(FLNC):c.1616C>T (p.Pro539Leu) rs375570393 0.00009
NM_001458.5(FLNC):c.1645A>G (p.Ile549Val) rs547997371 0.00009
NM_001458.5(FLNC):c.2513C>T (p.Ala838Val) rs775085661 0.00009
NM_001458.5(FLNC):c.3382G>A (p.Glu1128Lys) rs145724410 0.00009
NM_001458.5(FLNC):c.3623C>T (p.Ala1208Val) rs202184162 0.00009
NM_001458.5(FLNC):c.5128G>A (p.Glu1710Lys) rs200077114 0.00009
NM_001458.5(FLNC):c.5410A>T (p.Met1804Leu) rs201949844 0.00009
NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met) rs772580545 0.00009
NM_001458.5(FLNC):c.643G>A (p.Val215Met) rs754309921 0.00009
NM_001458.5(FLNC):c.7363T>C (p.Tyr2455His) rs371262238 0.00009
NM_001458.5(FLNC):c.7450G>A (p.Gly2484Ser) rs778922568 0.00009
NM_001458.5(FLNC):c.970-5A>G rs199755800 0.00009
NM_001711.6(BGN):c.976G>A (p.Gly326Arg) rs200072898 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001943.5(DSG2):c.379-3C>T rs376556524 0.00009
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp) rs369032377 0.00009
NM_002471.4(MYH6):c.203C>T (p.Thr68Met) rs751285148 0.00009
NM_002471.4(MYH6):c.2554G>A (p.Ala852Thr) rs776971183 0.00009
NM_002471.4(MYH6):c.3139C>T (p.Arg1047Cys) rs755565288 0.00009
NM_002471.4(MYH6):c.3612G>C (p.Glu1204Asp) rs751153777 0.00009
NM_002471.4(MYH6):c.421G>A (p.Ala141Thr) rs776853139 0.00009
NM_002471.4(MYH6):c.4651-3C>A rs572175190 0.00009
NM_002471.4(MYH6):c.4828C>T (p.Arg1610Cys) rs780726611 0.00009
NM_003098.3(SNTA1):c.101G>A (p.Ser34Asn) rs963277918 0.00009
NM_003476.5(CSRP3):c.190C>T (p.Arg64Cys) rs368392588 0.00009
NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu) rs727504436 0.00009
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile) rs767932680 0.00009
NM_003673.4(TCAP):c.448G>A (p.Gly150Ser) rs762850913 0.00009
NM_003673.4(TCAP):c.97C>T (p.Arg33Trp) rs145524909 0.00009
NM_004006.3(DMD):c.3004A>T (p.Thr1002Ser) rs1244241099 0.00009
NM_004006.3(DMD):c.6409G>C (p.Glu2137Gln) rs1023328955 0.00009
NM_004006.3(DMD):c.961-4del rs759592382 0.00009
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu) rs730880054 0.00009
NM_004281.4(BAG3):c.605C>T (p.Pro202Leu) rs556000090 0.00009
NM_004281.4(BAG3):c.616A>C (p.Ile206Leu) rs199700646 0.00009
NM_004387.4(NKX2-5):c.839C>T (p.Pro280Leu) rs761596254 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_004588.5(SCN2B):c.205T>C (p.Tyr69His) rs369196654 0.00009
NM_004588.5(SCN2B):c.281G>A (p.Arg94Gln) rs774866184 0.00009
NM_005477.3(HCN4):c.418G>A (p.Gly140Ser) rs773857091 0.00009
NM_005633.4(SOS1):c.244A>G (p.Ile82Val) rs397517157 0.00009
NM_005633.4(SOS1):c.3322G>A (p.Asp1108Asn) rs199856844 0.00009
NM_005751.5(AKAP9):c.11360G>A (p.Arg3787Gln) rs199880764 0.00009
NM_005751.5(AKAP9):c.2239G>A (p.Glu747Lys) rs529180209 0.00009
NM_005751.5(AKAP9):c.6808G>A (p.Ala2270Thr) rs1042630361 0.00009
NM_005751.5(AKAP9):c.8747C>A (p.Thr2916Lys) rs146648044 0.00009
NM_006073.4(TRDN):c.1808G>C (p.Gly603Ala) rs766406818 0.00009
NM_006073.4(TRDN):c.727A>G (p.Thr243Ala) rs376208769 0.00009
NM_006073.4(TRDN):c.884C>T (p.Pro295Leu) rs201899630 0.00009
NM_006440.5(TXNRD2):c.1549C>T (p.Pro517Ser) rs756196216 0.00009
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys) rs557142042 0.00009
NM_006514.4(SCN10A):c.4639G>T (p.Val1547Leu) rs377492327 0.00009
NM_006939.4(SOS2):c.3235A>G (p.Thr1079Ala) rs61755576 0.00009
NM_007078.3(LDB3):c.1487T>C (p.Phe496Ser) rs147072071 0.00009
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_007373.4(SHOC2):c.1477C>T (p.Leu493Phe) rs1026930115 0.00009
NM_007373.4(SHOC2):c.355A>G (p.Ile119Val) rs147068827 0.00009
NM_012186.3(FOXE3):c.269G>T (p.Arg90Leu) rs371048362 0.00009
NM_014391.3(ANKRD1):c.806G>A (p.Arg269Gln) rs367609929 0.00009
NM_016203.4(PRKAG2):c.187-4G>A rs752294420 0.00009
NM_016203.4(PRKAG2):c.455G>A (p.Arg152His) rs765374050 0.00009
NM_017636.4(TRPM4):c.1374G>T (p.Met458Ile) rs750029092 0.00009
NM_017636.4(TRPM4):c.1756G>C (p.Val586Leu) rs369462197 0.00009
NM_017636.4(TRPM4):c.2984C>T (p.Ser995Leu) rs116547139 0.00009
NM_017636.4(TRPM4):c.3602C>T (p.Pro1201Leu) rs773147035 0.00009
NM_017946.4(FKBP14):c.357T>G (p.Ile119Met) rs202182643 0.00009
NM_020297.4(ABCC9):c.1320+1G>A rs139620148 0.00009
NM_020778.5(ALPK3):c.-63G>C rs990569157 0.00009
NM_020778.5(ALPK3):c.1457C>T (p.Pro486Leu) rs150985765 0.00009
NM_020778.5(ALPK3):c.3683G>A (p.Arg1228Gln) rs150023454 0.00009
NM_020778.5(ALPK3):c.3752T>C (p.Val1251Ala) rs762986369 0.00009
NM_020778.5(ALPK3):c.400C>T (p.Arg134Cys) rs779972206 0.00009
NM_022436.3(ABCG5):c.1733A>G (p.Asn578Ser) rs146534033 0.00009
NM_022437.3(ABCG8):c.1763C>A (p.Ala588Glu) rs377433853 0.00009
NM_022773.4(LMF1):c.295C>T (p.Gln99Ter) rs752473648 0.00009
NM_024301.5(FKRP):c.1441C>G (p.Pro481Ala) rs745774108 0.00009
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg) rs730880226 0.00009
NM_024422.6(DSC2):c.1802A>C (p.Glu601Ala) rs537381028 0.00009
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe) rs181520023 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_172201.2(KCNE2):c.346G>A (p.Ala116Thr) rs150790888 0.00009
NM_000089.4(COL1A2):c.2456G>A (p.Arg819His) rs773985005 0.00008
NM_000218.3(KCNQ1):c.584G>A (p.Arg195Gln) rs138362632 0.00008
NM_000238.4(KCNH2):c.889C>T (p.Pro297Ser) rs199472882 0.00008
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) rs199472885 0.00008
NM_000256.3(MYBPC3):c.2882C>T (p.Pro961Leu) rs373056282 0.00008
NM_000335.5(SCN5A):c.2963G>A (p.Arg988Gln) rs759584454 0.00008
NM_000335.5(SCN5A):c.3536C>T (p.Ala1179Val) rs41310765 0.00008
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634 0.00008
NM_000384.3(APOB):c.13288T>A (p.Ser4430Thr) rs72654426 0.00008
NM_000384.3(APOB):c.6656G>A (p.Arg2219His) rs200106845 0.00008
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000722.4(CACNA2D1):c.2333C>T (p.Ser778Leu) rs202108848 0.00008
NM_000890.5(KCNJ5):c.536A>G (p.Asn179Ser) rs147070381 0.00008
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val) rs139924723 0.00008
NM_001035.3(RYR2):c.1318G>A (p.Ala440Thr) rs371878264 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.1561G>A (p.Glu521Lys) rs759494098 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_001040151.2(SCN3B):c.585-4A>G rs745830643 0.00008
NM_001077653.2(TBX20):c.1001G>A (p.Arg334Gln) rs767429245 0.00008
NM_001079802.2(FKTN):c.1102T>C (p.Phe368Leu) rs374381691 0.00008
NM_001105206.3(LAMA4):c.1522G>A (p.Ala508Thr) rs139730568 0.00008
NM_001105206.3(LAMA4):c.2189G>A (p.Arg730His) rs781825990 0.00008
NM_001105206.3(LAMA4):c.221C>A (p.Thr74Asn) rs782226255 0.00008
NM_001105206.3(LAMA4):c.2599C>A (p.Pro867Thr) rs782162498 0.00008
NM_001105206.3(LAMA4):c.4199A>G (p.Tyr1400Cys) rs782041997 0.00008
NM_001105206.3(LAMA4):c.4715T>G (p.Leu1572Arg) rs782367093 0.00008
NM_001134363.3(RBM20):c.1858G>A (p.Asp620Asn) rs541330074 0.00008
NM_001134363.3(RBM20):c.2239C>T (p.His747Tyr) rs535221986 0.00008
NM_001134363.3(RBM20):c.2264G>A (p.Arg755His) rs986602724 0.00008
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys) rs757389650 0.00008
NM_001232.4(CASQ2):c.1015-3C>T rs375320117 0.00008
NM_001232.4(CASQ2):c.860T>A (p.Ile287Asn) rs368165922 0.00008
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492 0.00008
NM_001267550.2(TTN):c.106511G>C (p.Ser35504Thr) rs575070622 0.00008
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00008
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr) rs397517829 0.00008
NM_001267550.2(TTN):c.2767G>A (p.Glu923Lys) rs369195237 0.00008
NM_001267550.2(TTN):c.34216C>A (p.Pro11406Thr) rs532102837 0.00008
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr) rs377037421 0.00008
NM_001267550.2(TTN):c.54631C>A (p.Pro18211Thr) rs727504192 0.00008
NM_001267550.2(TTN):c.57559G>A (p.Val19187Ile) rs764203267 0.00008
NM_001267550.2(TTN):c.65416C>T (p.Arg21806Trp) rs778703530 0.00008
NM_001267550.2(TTN):c.65515G>A (p.Ala21839Thr) rs56378177 0.00008
NM_001267550.2(TTN):c.6959G>A (p.Arg2320His) rs374615369 0.00008
NM_001267550.2(TTN):c.71944A>G (p.Asn23982Asp) rs199755820 0.00008
NM_001267550.2(TTN):c.82864C>A (p.Pro27622Thr) rs769189431 0.00008
NM_001267550.2(TTN):c.83080C>T (p.Arg27694Cys) rs192360370 0.00008
NM_001267550.2(TTN):c.85472G>A (p.Arg28491His) rs373129706 0.00008
NM_001267550.2(TTN):c.88183T>C (p.Phe29395Leu) rs55940667 0.00008
NM_001267550.2(TTN):c.90727A>T (p.Ile30243Phe) rs925184690 0.00008
NM_001267550.2(TTN):c.92710A>G (p.Lys30904Glu) rs370265204 0.00008
NM_001267550.2(TTN):c.94629A>G (p.Ile31543Met) rs397517759 0.00008
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys) rs371807358 0.00008
NM_001308093.3(GATA4):c.623T>C (p.Met208Thr) rs140892695 0.00008
NM_001365276.2(TNXB):c.9467C>T (p.Pro3156Leu) rs200111122 0.00008
NM_001367624.2(ZNF469):c.11503G>A (p.Gly3835Arg) rs574550673 0.00008
NM_001367624.2(ZNF469):c.1430C>T (p.Pro477Leu) rs1336355924 0.00008
NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg) rs554985503 0.00008
NM_001367624.2(ZNF469):c.7195C>T (p.Pro2399Ser) rs759032227 0.00008
NM_001367624.2(ZNF469):c.8387C>G (p.Pro2796Arg) rs886052412 0.00008
NM_001367624.2(ZNF469):c.8801T>A (p.Leu2934Gln) rs764531239 0.00008
NM_001367624.2(ZNF469):c.8931C>G (p.His2977Gln) rs758398877 0.00008
NM_001367624.2(ZNF469):c.959C>T (p.Thr320Met) rs765028361 0.00008
NM_001378454.1(ALMS1):c.8357C>G (p.Thr2786Ser) rs565373304 0.00008
NM_001378454.1(ALMS1):c.9496G>A (p.Glu3166Lys) rs201208516 0.00008
NM_001379200.1(TBX1):c.1252G>C (p.Glu418Gln) rs776268518 0.00008
NM_001458.5(FLNC):c.1513G>A (p.Gly505Ser) rs200935123 0.00008
NM_001458.5(FLNC):c.2602A>G (p.Ser868Gly) rs201002262 0.00008
NM_001458.5(FLNC):c.4651G>A (p.Ala1551Thr) rs565918031 0.00008
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu) rs745650222 0.00008
NM_001458.5(FLNC):c.6817G>A (p.Ala2273Thr) rs372251350 0.00008
NM_001711.6(BGN):c.515G>A (p.Arg172His) rs782239175 0.00008
NM_001711.6(BGN):c.988G>C (p.Ala330Pro) rs1181844672 0.00008
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00008
NM_002317.7(LOX):c.104C>A (p.Pro35Gln) rs757946184 0.00008
NM_002471.4(MYH6):c.1002T>A (p.Asp334Glu) rs371859345 0.00008
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) rs200153625 0.00008
NM_002471.4(MYH6):c.3178G>A (p.Asp1060Asn) rs775560235 0.00008
NM_002471.4(MYH6):c.3274C>G (p.Gln1092Glu) rs567433969 0.00008
NM_002471.4(MYH6):c.3604G>A (p.Val1202Met) rs368451573 0.00008
NM_002471.4(MYH6):c.3867G>T (p.Leu1289Phe) rs138127105 0.00008
NM_002471.4(MYH6):c.4016G>A (p.Arg1339Gln) rs766238876 0.00008
NM_002471.4(MYH6):c.4727G>A (p.Arg1576Gln) rs771898553 0.00008
NM_003480.4(MFAP5):c.89G>A (p.Arg30Gln) rs145592970 0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00008
NM_004006.3(DMD):c.5548A>G (p.Lys1850Glu) rs141261536 0.00008
NM_004006.3(DMD):c.6847A>G (p.Ile2283Val) rs751145927 0.00008
NM_004006.3(DMD):c.733A>G (p.Ile245Val) rs140510985 0.00008
NM_004006.3(DMD):c.7919C>G (p.Ala2640Gly) rs146020545 0.00008
NM_004387.4(NKX2-5):c.769C>A (p.Pro257Thr) rs387906776 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_005477.3(HCN4):c.1087A>G (p.Ile363Val) rs144168042 0.00008
NM_005477.3(HCN4):c.2669C>T (p.Pro890Leu) rs758929649 0.00008
NM_005477.3(HCN4):c.2695G>A (p.Val899Ile) rs370669201 0.00008
NM_005477.3(HCN4):c.466G>A (p.Gly156Ser) rs924203370 0.00008
NM_005477.3(HCN4):c.481C>A (p.Pro161Thr) rs1490522995 0.00008
NM_005477.3(HCN4):c.724C>T (p.Arg242Cys) rs745880598 0.00008
NM_005751.5(AKAP9):c.4131G>C (p.Glu1377Asp) rs373313419 0.00008
NM_005751.5(AKAP9):c.4999T>C (p.Ser1667Pro) rs550448097 0.00008
NM_005751.5(AKAP9):c.7034_7036del (p.Arg2345_Glu2346delinsLys) rs786205709 0.00008
NM_005751.5(AKAP9):c.8468A>G (p.Gln2823Arg) rs376528503 0.00008
NM_005911.6(MAT2A):c.721A>G (p.Ile241Val) rs578215416 0.00008
NM_006073.4(TRDN):c.1137T>G (p.Asp379Glu) rs200706450 0.00008
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr) rs373839226 0.00008
NM_006514.4(SCN10A):c.3704C>T (p.Ala1235Val) rs765984332 0.00008
NM_007078.3(LDB3):c.1075G>A (p.Asp359Asn) rs557956141 0.00008
NM_007078.3(LDB3):c.1675C>T (p.Arg559Trp) rs142947567 0.00008
NM_007078.3(LDB3):c.1676G>A (p.Arg559Gln) rs763908636 0.00008
NM_007078.3(LDB3):c.581A>T (p.Gln194Leu) rs769852198 0.00008
NM_007078.3(LDB3):c.715G>A (p.Val239Ile) rs201417512 0.00008
NM_007078.3(LDB3):c.887G>A (p.Arg296Gln) rs201689564 0.00008
NM_007373.4(SHOC2):c.74A>G (p.Glu25Gly) rs730881019 0.00008
NM_012186.3(FOXE3):c.127G>A (p.Glu43Lys) rs1030716081 0.00008
NM_012186.3(FOXE3):c.604C>T (p.Pro202Ser) rs1213749118 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_014000.3(VCL):c.2444A>G (p.Lys815Arg) rs373010557 0.00008
NM_014391.3(ANKRD1):c.27+4T>A rs376540175 0.00008
NM_014391.3(ANKRD1):c.751-4C>A rs780419708 0.00008
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser) rs200589374 0.00008
NM_016599.5(MYOZ2):c.479C>T (p.Pro160Leu) rs200791464 0.00008
NM_017636.4(TRPM4):c.2638G>A (p.Gly880Ser) rs762428211 0.00008
NM_020433.5(JPH2):c.829G>T (p.Ala277Ser) rs368516996 0.00008
NM_020778.5(ALPK3):c.2653A>G (p.Ser885Gly) rs770595600 0.00008
NM_020778.5(ALPK3):c.3038G>A (p.Arg1013His) rs201993684 0.00008
NM_020778.5(ALPK3):c.4024G>A (p.Gly1342Ser) rs373062858 0.00008
NM_020778.5(ALPK3):c.5003G>A (p.Arg1668Gln) rs370296349 0.00008
NM_020778.5(ALPK3):c.983G>A (p.Arg328Gln) rs1343260515 0.00008
NM_022436.3(ABCG5):c.1348G>A (p.Asp450Asn) rs530616214 0.00008
NM_022437.3(ABCG8):c.694+5G>C rs557890655 0.00008
NM_024422.6(DSC2):c.596G>A (p.Arg199His) rs374707462 0.00008
NM_032578.4(MYPN):c.3793+4A>G rs145946587 0.00008
NM_032578.4(MYPN):c.757G>C (p.Gly253Arg) rs201983087 0.00008
NM_170707.4(LMNA):c.1381-5G>A rs730880133 0.00008
NM_170707.4(LMNA):c.1862C>T (p.Thr621Met) rs765594825 0.00008
NM_174936.4(PCSK9):c.479G>A (p.Arg160Gln) rs367620267 0.00008
NM_174936.4(PCSK9):c.493C>T (p.Arg165Trp) rs141593516 0.00008
NM_174936.4(PCSK9):c.520C>T (p.Pro174Ser) rs533273863 0.00008
NM_000039.3(APOA1):c.158A>G (p.Tyr53Cys) rs750185173 0.00007
NM_000039.3(APOA1):c.80C>A (p.Pro27His) rs121912720 0.00007
NM_000089.4(COL1A2):c.1564C>T (p.Pro522Ser) rs199732595 0.00007
NM_000089.4(COL1A2):c.2309C>T (p.Pro770Leu) rs149858889 0.00007
NM_000152.5(GAA):c.658G>T (p.Val220Leu) rs530478036 0.00007
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu) rs767826365 0.00007
NM_000214.3(JAG1):c.3154G>A (p.Val1052Ile) rs375200637 0.00007
NM_000214.3(JAG1):c.3260C>T (p.Thr1087Met) rs763164530 0.00007
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile) rs150295026 0.00007
NM_000218.3(KCNQ1):c.1201C>T (p.Arg401Trp) rs766616232 0.00007
NM_000218.3(KCNQ1):c.136G>A (p.Ala46Thr) rs199473671 0.00007
NM_000237.3(LPL):c.1196T>C (p.Ile399Thr) rs139282874 0.00007
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.2765G>A (p.Gly922Glu) rs751224775 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.844C>T (p.Arg282Trp) rs727504234 0.00007
NM_000257.4(MYH7):c.114C>T (p.Phe38=) rs146210693 0.00007
NM_000335.5(SCN5A):c.1750G>C (p.Gly584Arg) rs763240431 0.00007
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val) rs370588133 0.00007
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000371.4(TTR):c.280G>C (p.Asp94His) rs730881164 0.00007
NM_000384.3(APOB):c.11443G>A (p.Val3815Met) rs551178628 0.00007
NM_000384.3(APOB):c.12736T>G (p.Phe4246Val) rs200260789 0.00007
NM_000384.3(APOB):c.2312C>T (p.Pro771Leu) rs200524554 0.00007
NM_000384.3(APOB):c.2938G>A (p.Ala980Thr) rs369310292 0.00007
NM_000384.3(APOB):c.5600G>A (p.Arg1867Gln) rs371337253 0.00007
NM_000384.3(APOB):c.6655C>T (p.Arg2219Cys) rs141641980 0.00007
NM_000719.7(CACNA1C):c.2566G>A (p.Gly856Ser) rs145549773 0.00007
NM_000719.7(CACNA1C):c.5671G>C (p.Ala1891Pro) rs542914369 0.00007
NM_000784.4(CYP27A1):c.1114G>A (p.Gly372Arg) rs369969903 0.00007
NM_000784.4(CYP27A1):c.593C>T (p.Ser198Leu) rs563736306 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.5822G>A (p.Arg1941His) rs373600053 0.00007
NM_001035.3(RYR2):c.7495G>A (p.Ala2499Thr) rs191850147 0.00007
NM_001103.4(ACTN2):c.331G>A (p.Gly111Arg) rs148628141 0.00007
NM_001103.4(ACTN2):c.899C>T (p.Thr300Met) rs144025957 0.00007
NM_001103.4(ACTN2):c.926C>T (p.Pro309Leu) rs146568303 0.00007
NM_001105206.3(LAMA4):c.163G>T (p.Val55Leu) rs377370824 0.00007
NM_001105206.3(LAMA4):c.1858G>A (p.Ala620Thr) rs374001056 0.00007
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His) rs397516723 0.00007
NM_001105206.3(LAMA4):c.874G>A (p.Glu292Lys) rs781838464 0.00007
NM_001105206.3(LAMA4):c.889G>A (p.Gly297Arg) rs375305822 0.00007
NM_001110556.2(FLNA):c.3106C>T (p.Arg1036Cys) rs781844419 0.00007
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys) rs199675436 0.00007
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr) rs876657971 0.00007
NM_001148.6(ANK2):c.10453G>A (p.Ala3485Thr) rs754354916 0.00007
NM_001232.4(CASQ2):c.475G>A (p.Glu159Lys) rs375598471 0.00007
NM_001232.4(CASQ2):c.503T>C (p.Ile168Thr) rs148057999 0.00007
NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys) rs371908649 0.00007
NM_001267550.2(TTN):c.13227C>T (p.Ser4409=) rs571473566 0.00007
NM_001267550.2(TTN):c.13700A>G (p.Asp4567Gly) rs745641339 0.00007
NM_001267550.2(TTN):c.40688C>T (p.Thr13563Ile) rs780572853 0.00007
NM_001267550.2(TTN):c.44588C>T (p.Thr14863Met) rs759406486 0.00007
NM_001267550.2(TTN):c.47693G>A (p.Arg15898Gln) rs376278449 0.00007
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His) rs727503604 0.00007
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00007
NM_001267550.2(TTN):c.62290G>C (p.Glu20764Gln) rs397517651 0.00007
NM_001267550.2(TTN):c.63065G>A (p.Arg21022His) rs727503585 0.00007
NM_001267550.2(TTN):c.63578G>A (p.Arg21193His) rs372267046 0.00007
NM_001267550.2(TTN):c.72226T>G (p.Leu24076Val) rs202098308 0.00007
NM_001267550.2(TTN):c.78980G>A (p.Arg26327Gln) rs370367786 0.00007
NM_001267550.2(TTN):c.88117G>A (p.Glu29373Lys) rs762557803 0.00007
NM_001267550.2(TTN):c.9326A>G (p.Lys3109Arg) rs753036867 0.00007
NM_001267550.2(TTN):c.9363G>A (p.Met3121Ile) rs200413367 0.00007
NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu) rs33997263 0.00007
NM_001267550.2(TTN):c.95962G>A (p.Val31988Met) rs756469423 0.00007
NM_001365276.2(TNXB):c.10454A>G (p.Asp3485Gly) rs371565354 0.00007
NM_001365276.2(TNXB):c.529C>T (p.Pro177Ser) rs369052118 0.00007
NM_001365276.2(TNXB):c.7296C>T (p.Thr2432=) rs753041189 0.00007
NM_001367624.2(ZNF469):c.1507C>T (p.Arg503Trp) rs767072775 0.00007
NM_001367624.2(ZNF469):c.3919G>A (p.Gly1307Ser) rs568553875 0.00007
NM_001367624.2(ZNF469):c.7006C>T (p.Arg2336Cys) rs1364703200 0.00007
NM_001367624.2(ZNF469):c.9269G>A (p.Arg3090Gln) rs751447615 0.00007
NM_001378454.1(ALMS1):c.12005G>A (p.Arg4002Gln) rs375923289 0.00007
NM_001378454.1(ALMS1):c.12362G>A (p.Arg4121Gln) rs376602261 0.00007
NM_001378454.1(ALMS1):c.1516A>T (p.Ile506Phe) rs555552377 0.00007
NM_001378454.1(ALMS1):c.3965A>G (p.Gln1322Arg) rs1251705223 0.00007
NM_001378454.1(ALMS1):c.9449G>A (p.Ser3150Asn) rs34029285 0.00007
NM_001378454.1(ALMS1):c.974C>T (p.Ser325Leu) rs376632767 0.00007
NM_001378969.1(KCND3):c.1703G>A (p.Arg568His) rs200212002 0.00007
NM_001458.5(FLNC):c.1142G>A (p.Arg381His) rs776469396 0.00007
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln) rs765173966 0.00007
NM_001458.5(FLNC):c.205C>T (p.Arg69Trp) rs758342140 0.00007
NM_001458.5(FLNC):c.2419C>T (p.Pro807Ser) rs946201226 0.00007
NM_001458.5(FLNC):c.2843G>A (p.Gly948Glu) rs373298499 0.00007
NM_001458.5(FLNC):c.3592G>C (p.Val1198Leu) rs201912847 0.00007
NM_001458.5(FLNC):c.3872G>A (p.Arg1291His) rs370042010 0.00007
NM_001458.5(FLNC):c.8020G>A (p.Gly2674Ser) rs372338218 0.00007
NM_001711.6(BGN):c.167C>T (p.Thr56Ile) rs199564098 0.00007
NM_001711.6(BGN):c.514C>T (p.Arg172Cys) rs370978501 0.00007
NM_001943.5(DSG2):c.1397C>T (p.Thr466Ile) rs769137357 0.00007
NM_002294.3(LAMP2):c.515T>C (p.Leu172Pro) rs371174243 0.00007
NM_002471.4(MYH6):c.1244G>C (p.Gly415Ala) rs759520932 0.00007
NM_002471.4(MYH6):c.3808C>T (p.Arg1270Cys) rs371849826 0.00007
NM_002471.4(MYH6):c.4666G>A (p.Glu1556Lys) rs148582147 0.00007
NM_002471.4(MYH6):c.5501G>A (p.Arg1834His) rs202132499 0.00007
NM_002471.4(MYH6):c.642+4C>T rs369858520 0.00007
NM_002471.4(MYH6):c.679G>A (p.Ala227Thr) rs201828188 0.00007
NM_002880.4(RAF1):c.365T>C (p.Ile122Thr) rs730881000 0.00007
NM_003098.3(SNTA1):c.1105C>T (p.Arg369Cys) rs369968387 0.00007
NM_003098.3(SNTA1):c.1442C>T (p.Ser481Leu) rs370531842 0.00007
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr) rs377412251 0.00007
NM_004006.3(DMD):c.5675G>A (p.Cys1892Tyr) rs137898199 0.00007
NM_004006.3(DMD):c.8053G>A (p.Glu2685Lys) rs748937055 0.00007
NM_004006.3(DMD):c.938C>T (p.Thr313Ile) rs201799335 0.00007
NM_004100.5(EYA4):c.148A>T (p.Ser50Cys) rs932450184 0.00007
NM_004281.4(BAG3):c.827G>A (p.Arg276Gln) rs372970842 0.00007
NM_004281.4(BAG3):c.892G>A (p.Val298Met) rs150048651 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_004415.4(DSP):c.8172G>T (p.Gln2724His) rs372569211 0.00007
NM_004588.5(SCN2B):c.82C>T (p.Arg28Trp) rs17121819 0.00007
NM_005477.3(HCN4):c.3397G>C (p.Gly1133Arg) rs532186403 0.00007
NM_005477.3(HCN4):c.520C>T (p.Pro174Ser) rs542532555 0.00007
NM_005502.4(ABCA1):c.5690G>A (p.Arg1897Gln) rs564049659 0.00007
NM_005633.4(SOS1):c.3729C>G (p.Asp1243Glu) rs730881026 0.00007
NM_005751.5(AKAP9):c.11494C>T (p.Arg3832Cys) rs140053176 0.00007
NM_005751.5(AKAP9):c.7454C>A (p.Ser2485Tyr) rs373613868 0.00007
NM_006073.4(TRDN):c.1063G>T (p.Ala355Ser) rs776657049 0.00007
NM_006073.4(TRDN):c.1187-3C>T rs375421435 0.00007
NM_006073.4(TRDN):c.1801C>G (p.Pro601Ala) rs376214235 0.00007
NM_006440.5(TXNRD2):c.611A>G (p.Tyr204Cys) rs199765650 0.00007
NM_006514.4(SCN10A):c.2105T>G (p.Ile702Ser) rs147482520 0.00007
NM_006514.4(SCN10A):c.4831G>A (p.Gly1611Arg) rs777980971 0.00007
NM_006939.4(SOS2):c.2707G>A (p.Val903Met) rs745788940 0.00007
NM_007078.3(LDB3):c.1289C>A (p.Thr430Asn) rs746183666 0.00007
NM_007078.3(LDB3):c.422C>T (p.Thr141Ile) rs141078955 0.00007
NM_014391.3(ANKRD1):c.820T>C (p.Tyr274His) rs377074932 0.00007
NM_014908.4(DOLK):c.509T>G (p.Val170Gly) rs745609223 0.00007
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg) rs751094298 0.00007
NM_017636.4(TRPM4):c.1010G>A (p.Arg337His) rs138718906 0.00007
NM_017636.4(TRPM4):c.1069C>T (p.Arg357Trp) rs764690335 0.00007
NM_017636.4(TRPM4):c.184G>A (p.Asp62Asn) rs747048335 0.00007
NM_017636.4(TRPM4):c.2116C>T (p.Arg706Cys) rs199552085 0.00007
NM_017636.4(TRPM4):c.250G>A (p.Gly84Ser) rs151258293 0.00007
NM_017636.4(TRPM4):c.2761G>A (p.Val921Ile) rs377359117 0.00007
NM_017636.4(TRPM4):c.2779-5C>T rs374639233 0.00007
NM_017636.4(TRPM4):c.2840C>A (p.Ala947Asp) rs368175948 0.00007
NM_017636.4(TRPM4):c.416G>A (p.Arg139His) rs200360191 0.00007
NM_017946.4(FKBP14):c.350-5G>A rs763069544 0.00007
NM_020433.5(JPH2):c.1565G>A (p.Arg522Gln) rs980412081 0.00007
NM_020778.5(ALPK3):c.2513G>T (p.Cys838Phe) rs202037221 0.00007
NM_020778.5(ALPK3):c.3137G>A (p.Arg1046His) rs184951836 0.00007
NM_020778.5(ALPK3):c.3485G>C (p.Gly1162Ala) rs752749949 0.00007
NM_020778.5(ALPK3):c.3950G>A (p.Gly1317Asp) rs148887150 0.00007
NM_020778.5(ALPK3):c.3986C>T (p.Ala1329Val) rs140665587 0.00007
NM_020778.5(ALPK3):c.5002C>T (p.Arg1668Trp) rs148009523 0.00007
NM_021167.5(GATAD1):c.766A>G (p.Thr256Ala) rs778560008 0.00007
NM_022436.3(ABCG5):c.116G>A (p.Gly39Asp) rs371929020 0.00007
NM_022436.3(ABCG5):c.758G>A (p.Arg253His) rs148186696 0.00007
NM_022437.3(ABCG8):c.586C>T (p.Arg196Trp) rs200433692 0.00007
NM_032578.4(MYPN):c.140C>T (p.Pro47Leu) rs777446804 0.00007
NM_032578.4(MYPN):c.185A>C (p.Asp62Ala) rs370768715 0.00007
NM_144573.4(NEXN):c.1190G>A (p.Arg397Gln) rs201806320 0.00007
NM_144573.4(NEXN):c.157G>A (p.Glu53Lys) rs373778361 0.00007
NM_144573.4(NEXN):c.586C>T (p.Arg196Cys) rs369486891 0.00007
NM_174936.4(PCSK9):c.1492G>A (p.Glu498Lys) rs145468572 0.00007
NM_174936.4(PCSK9):c.317G>T (p.Gly106Val) rs370751343 0.00007
NM_181486.4(TBX5):c.1162G>A (p.Glu388Lys) rs139371720 0.00007
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile) rs138048445 0.00006
NM_000071.3(CBS):c.1472G>A (p.Arg491His) rs747419767 0.00006
NM_000088.4(COL1A1):c.2116G>A (p.Asp706Asn) rs372215246 0.00006
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His) rs774001209 0.00006
NM_000088.4(COL1A1):c.4005+5G>A rs778417218 0.00006
NM_000089.4(COL1A2):c.2843G>A (p.Arg948His) rs201168934 0.00006
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00006
NM_000089.4(COL1A2):c.3368G>T (p.Arg1123Leu) rs145541630 0.00006
NM_000089.4(COL1A2):c.3632T>C (p.Ile1211Thr) rs201746779 0.00006
NM_000089.4(COL1A2):c.671G>A (p.Arg224His) rs771139732 0.00006
NM_000089.4(COL1A2):c.949G>A (p.Val317Ile) rs142803502 0.00006
NM_000138.5(FBN1):c.8311G>A (p.Val2771Ile) rs193922244 0.00006
NM_000152.5(GAA):c.55G>A (p.Val19Met) rs200343198 0.00006
NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn) rs367658155 0.00006
NM_000214.3(JAG1):c.1015G>T (p.Ala339Ser) rs751516838 0.00006
NM_000214.3(JAG1):c.2300C>T (p.Thr767Met) rs140330283 0.00006
NM_000214.3(JAG1):c.248A>G (p.Gln83Arg) rs376092818 0.00006
NM_000214.3(JAG1):c.2527C>T (p.Arg843Trp) rs201608372 0.00006
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala) rs909905245 0.00006
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907 0.00006
NM_000218.3(KCNQ1):c.1733-3T>C rs372912362 0.00006
NM_000218.3(KCNQ1):c.2017G>A (p.Asp673Asn) rs866169644 0.00006
NM_000218.3(KCNQ1):c.875G>A (p.Gly292Asp) rs199472736 0.00006
NM_000219.6(KCNE1):c.-3del rs397515878 0.00006
NM_000238.4(KCNH2):c.2659C>T (p.Arg887Cys) rs140279503 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys) rs397515956 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_000257.4(MYH7):c.1060G>A (p.Gly354Ser) rs727503270 0.00006
NM_000257.4(MYH7):c.115G>A (p.Val39Met) rs376160714 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.1282G>A (p.Glu428Lys) rs199473111 0.00006
NM_000335.5(SCN5A):c.3032C>T (p.Pro1011Leu) rs369249772 0.00006
NM_000335.5(SCN5A):c.3343C>T (p.Arg1115Trp) rs199473196 0.00006
NM_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys) rs373118001 0.00006
NM_000335.5(SCN5A):c.6001G>A (p.Ala2001Thr) rs771018427 0.00006
NM_000363.5(TNNI3):c.356C>A (p.Thr119Asn) rs184709702 0.00006
NM_000384.3(APOB):c.10267G>A (p.Val3423Met) rs199689957 0.00006
NM_000384.3(APOB):c.11851C>T (p.His3951Tyr) rs1328884551 0.00006
NM_000384.3(APOB):c.1258G>A (p.Glu420Lys) rs192004342 0.00006
NM_000384.3(APOB):c.12731C>G (p.Ser4244Cys) rs1052000878 0.00006
NM_000384.3(APOB):c.2536T>A (p.Leu846Met) rs189880634 0.00006
NM_000384.3(APOB):c.318C>G (p.Asn106Lys) rs371662800 0.00006
NM_000384.3(APOB):c.3246A>C (p.Glu1082Asp) rs371987644 0.00006
NM_000384.3(APOB):c.508A>T (p.Thr170Ser) rs370493370 0.00006
NM_000384.3(APOB):c.5387C>G (p.Thr1796Ser) rs529168934 0.00006
NM_000384.3(APOB):c.5560G>A (p.Asp1854Asn) rs138005301 0.00006
NM_000384.3(APOB):c.5608A>G (p.Thr1870Ala) rs375985550 0.00006
NM_000384.3(APOB):c.7094C>T (p.Ala2365Val) rs200034452 0.00006
NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp) rs149306841 0.00006
NM_000384.3(APOB):c.8047G>C (p.Glu2683Gln) rs373846203 0.00006
NM_000384.3(APOB):c.8134C>T (p.Arg2712Cys) rs372245645 0.00006
NM_000384.3(APOB):c.8198T>C (p.Val2733Ala) rs771792572 0.00006
NM_000384.3(APOB):c.8294A>G (p.Gln2765Arg) rs142796181 0.00006
NM_000384.3(APOB):c.9407G>A (p.Arg3136His) rs199590149 0.00006
NM_000384.3(APOB):c.9493A>G (p.Thr3165Ala) rs149166048 0.00006
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386 0.00006
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn) rs138190838 0.00006
NM_000527.5(LDLR):c.2397C>T (p.Leu799=) rs367882846 0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_000719.7(CACNA1C):c.5407C>T (p.Arg1803Trp) rs113157354 0.00006
NM_000719.7(CACNA1C):c.5510A>G (p.Tyr1837Cys) rs952990263 0.00006
NM_000722.4(CACNA2D1):c.1086G>A (p.Thr362=) rs148592476 0.00006
NM_000722.4(CACNA2D1):c.3218T>C (p.Ile1073Thr) rs146250893 0.00006
NM_000784.4(CYP27A1):c.536A>G (p.Asn179Ser) rs145080072 0.00006
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn) rs772334698 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.10838+4G>A rs776923037 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.1511G>A (p.Arg504His) rs201600087 0.00006
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met) rs377068202 0.00006
NM_001035.3(RYR2):c.3164G>A (p.Arg1055His) rs757490010 0.00006
NM_001035.3(RYR2):c.3836G>C (p.Ser1279Thr) rs751419465 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.7815G>A (p.Met2605Ile) rs1244019330 0.00006
NM_001035.3(RYR2):c.8416C>T (p.Arg2806Cys) rs727504134 0.00006
NM_001035.3(RYR2):c.8437-3T>C rs924080705 0.00006
NM_001035.3(RYR2):c.9569G>A (p.Arg3190Gln) rs369276868 0.00006
NM_001077653.2(TBX20):c.10A>T (p.Thr4Ser) rs147393830 0.00006
NM_001077653.2(TBX20):c.1136T>C (p.Ile379Thr) rs1236811449 0.00006
NM_001077653.2(TBX20):c.599T>C (p.Met200Thr) rs151183955 0.00006
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516 0.00006
NM_001103.4(ACTN2):c.1288G>C (p.Glu430Gln) rs370865082 0.00006
NM_001103.4(ACTN2):c.2678A>G (p.Asp893Gly) rs199920384 0.00006
NM_001105206.3(LAMA4):c.1166A>G (p.His389Arg) rs782618362 0.00006
NM_001105206.3(LAMA4):c.1318C>T (p.Arg440Trp) rs140911762 0.00006
NM_001105206.3(LAMA4):c.1420G>A (p.Val474Ile) rs375981026 0.00006
NM_001105206.3(LAMA4):c.1613C>T (p.Ala538Val) rs782569832 0.00006
NM_001105206.3(LAMA4):c.1634G>A (p.Arg545His) rs143937452 0.00006
NM_001105206.3(LAMA4):c.167C>T (p.Ala56Val) rs372763422 0.00006
NM_001105206.3(LAMA4):c.1960-3T>C rs373682270 0.00006
NM_001105206.3(LAMA4):c.4168C>T (p.Arg1390Trp) rs200189282 0.00006
NM_001105206.3(LAMA4):c.4583G>T (p.Arg1528Leu) rs782805733 0.00006
NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr) rs377204776 0.00006
NM_001105206.3(LAMA4):c.547A>G (p.Thr183Ala) rs782667094 0.00006
NM_001105206.3(LAMA4):c.631A>C (p.Asn211His) rs371848733 0.00006
NM_001105206.3(LAMA4):c.928C>G (p.His310Asp) rs374968791 0.00006
NM_001134363.3(RBM20):c.1138C>T (p.Arg380Trp) rs540962668 0.00006
NM_001134363.3(RBM20):c.2152C>G (p.Leu718Val) rs1024449251 0.00006
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys) rs886038886 0.00006
NM_001134363.3(RBM20):c.2579A>G (p.Glu860Gly) rs758720475 0.00006
NM_001134363.3(RBM20):c.3245T>G (p.Leu1082Arg) rs878854252 0.00006
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe) rs371828469 0.00006
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser) rs374611807 0.00006
NM_001148.6(ANK2):c.10948G>C (p.Glu3650Gln) rs746987182 0.00006
NM_001148.6(ANK2):c.11525G>A (p.Arg3842Gln) rs770954138 0.00006
NM_001148.6(ANK2):c.11813A>G (p.Lys3938Arg) rs568549084 0.00006
NM_001148.6(ANK2):c.1288-4G>A rs780788513 0.00006
NM_001148.6(ANK2):c.1397C>T (p.Thr466Met) rs786205722 0.00006
NM_001148.6(ANK2):c.1423G>A (p.Gly475Arg) rs36210415 0.00006
NM_001148.6(ANK2):c.85-5C>T rs372560419 0.00006
NM_001267550.2(TTN):c.102191C>T (p.Ala34064Val) rs149921607 0.00006
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00006
NM_001267550.2(TTN):c.104125C>T (p.Arg34709Cys) rs530959653 0.00006
NM_001267550.2(TTN):c.104591C>T (p.Pro34864Leu) rs72629788 0.00006
NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys) rs145560044 0.00006
NM_001267550.2(TTN):c.106537A>G (p.Lys35513Glu) rs551063889 0.00006
NM_001267550.2(TTN):c.107357C>T (p.Thr35786Ile) rs749086389 0.00006
NM_001267550.2(TTN):c.11667G>T (p.Glu3889Asp) rs377423256 0.00006
NM_001267550.2(TTN):c.1231A>C (p.Thr411Pro) rs911182620 0.00006
NM_001267550.2(TTN):c.12391T>A (p.Phe4131Ile) rs750186297 0.00006
NM_001267550.2(TTN):c.12821G>A (p.Ser4274Asn) rs200348414 0.00006
NM_001267550.2(TTN):c.1370C>T (p.Ala457Val) rs780402263 0.00006
NM_001267550.2(TTN):c.26468C>T (p.Thr8823Met) rs368151971 0.00006
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile) rs375735354 0.00006
NM_001267550.2(TTN):c.41812A>G (p.Met13938Val) rs201725483 0.00006
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr) rs369623392 0.00006
NM_001267550.2(TTN):c.43501A>G (p.Thr14501Ala) rs764500643 0.00006
NM_001267550.2(TTN):c.4462A>G (p.Thr1488Ala) rs146732280 0.00006
NM_001267550.2(TTN):c.45980G>A (p.Arg15327His) rs374697274 0.00006
NM_001267550.2(TTN):c.47866G>A (p.Asp15956Asn) rs372881122 0.00006
NM_001267550.2(TTN):c.48296G>A (p.Arg16099Gln) rs376747673 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala) rs773027240 0.00006
NM_001267550.2(TTN):c.52891G>A (p.Val17631Ile) rs749503285 0.00006
NM_001267550.2(TTN):c.53744G>A (p.Arg17915Gln) rs758896047 0.00006
NM_001267550.2(TTN):c.5665G>T (p.Val1889Phe) rs141105443 0.00006
NM_001267550.2(TTN):c.56911G>A (p.Val18971Met) rs373153121 0.00006
NM_001267550.2(TTN):c.57382A>G (p.Met19128Val) rs138367112 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His) rs370887455 0.00006
NM_001267550.2(TTN):c.63581T>C (p.Leu21194Pro) rs367838375 0.00006
NM_001267550.2(TTN):c.64673-5T>C rs530496528 0.00006
NM_001267550.2(TTN):c.65093G>T (p.Arg21698Leu) rs371581072 0.00006
NM_001267550.2(TTN):c.65143C>T (p.Arg21715Trp) rs766522121 0.00006
NM_001267550.2(TTN):c.65915G>A (p.Arg21972His) rs200217934 0.00006
NM_001267550.2(TTN):c.6608T>C (p.Val2203Ala) rs746433556 0.00006
NM_001267550.2(TTN):c.67014C>A (p.Asn22338Lys) rs761241302 0.00006
NM_001267550.2(TTN):c.68981C>T (p.Thr22994Ile) rs183056142 0.00006
NM_001267550.2(TTN):c.69103G>A (p.Val23035Ile) rs200878877 0.00006
NM_001267550.2(TTN):c.69412+4T>G rs761388922 0.00006
NM_001267550.2(TTN):c.6950G>A (p.Arg2317His) rs764882950 0.00006
NM_001267550.2(TTN):c.70975G>A (p.Gly23659Ser) rs376256345 0.00006
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr) rs371818894 0.00006
NM_001267550.2(TTN):c.7157G>A (p.Gly2386Asp) rs142926566 0.00006
NM_001267550.2(TTN):c.7328A>G (p.Tyr2443Cys) rs369407160 0.00006
NM_001267550.2(TTN):c.73391G>A (p.Arg24464Gln) rs750056949 0.00006
NM_001267550.2(TTN):c.73546G>A (p.Val24516Ile) rs72646897 0.00006
NM_001267550.2(TTN):c.73636G>C (p.Asp24546His) rs1051495269 0.00006
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln) rs201694149 0.00006
NM_001267550.2(TTN):c.80290G>A (p.Gly26764Arg) rs727505213 0.00006
NM_001267550.2(TTN):c.80733T>G (p.Ile26911Met) rs371965190 0.00006
NM_001267550.2(TTN):c.81038G>A (p.Arg27013Gln) rs376374751 0.00006
NM_001267550.2(TTN):c.81503G>A (p.Arg27168His) rs374160272 0.00006
NM_001267550.2(TTN):c.82084A>G (p.Ile27362Val) rs886039181 0.00006
NM_001267550.2(TTN):c.82405C>G (p.Pro27469Ala) rs769678793 0.00006
NM_001267550.2(TTN):c.83081G>A (p.Arg27694His) rs775499341 0.00006
NM_001267550.2(TTN):c.83600C>G (p.Pro27867Arg) rs374119634 0.00006
NM_001267550.2(TTN):c.84436G>A (p.Val28146Ile) rs371366196 0.00006
NM_001267550.2(TTN):c.84652G>A (p.Gly28218Ser) rs727504693 0.00006
NM_001267550.2(TTN):c.85462G>A (p.Val28488Ile) rs377264123 0.00006
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn) rs757300589 0.00006
NM_001267550.2(TTN):c.88622T>C (p.Ile29541Thr) rs768292510 0.00006
NM_001267550.2(TTN):c.89375C>T (p.Thr29792Ile) rs876658091 0.00006
NM_001267550.2(TTN):c.92590G>A (p.Asp30864Asn) rs200621611 0.00006
NM_001267550.2(TTN):c.93031G>A (p.Val31011Met) rs369206712 0.00006
NM_001267550.2(TTN):c.93442T>C (p.Tyr31148His) rs373131310 0.00006
NM_001267550.2(TTN):c.9512A>G (p.Asn3171Ser) rs139992576 0.00006
NM_001267550.2(TTN):c.95305G>A (p.Val31769Ile) rs374445709 0.00006
NM_001267550.2(TTN):c.96227A>G (p.Asn32076Ser) rs373289373 0.00006
NM_001267550.2(TTN):c.96230G>A (p.Arg32077Gln) rs369835255 0.00006
NM_001267550.2(TTN):c.96389C>T (p.Thr32130Met) rs368998895 0.00006
NM_001267550.2(TTN):c.96424G>A (p.Val32142Ile) rs779663332 0.00006
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn) rs764561909 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_001267550.2(TTN):c.97678C>T (p.Arg32560Cys) rs760762257 0.00006
NM_001289808.2(CRYAB):c.37C>A (p.Pro13Thr) rs1349139935 0.00006
NM_001365276.2(TNXB):c.1205G>A (p.Arg402His) rs760374196 0.00006
NM_001365276.2(TNXB):c.2326G>A (p.Val776Met) rs527606803 0.00006
NM_001365276.2(TNXB):c.3427G>A (p.Val1143Met) rs965570472 0.00006
NM_001365276.2(TNXB):c.3814G>A (p.Val1272Met) rs749925578 0.00006
NM_001365276.2(TNXB):c.551C>T (p.Ser184Leu) rs375853200 0.00006
NM_001365276.2(TNXB):c.6177C>G (p.His2059Gln) rs551447544 0.00006
NM_001365276.2(TNXB):c.6508C>T (p.Arg2170Trp) rs184875282 0.00006
NM_001365276.2(TNXB):c.7205G>T (p.Ser2402Ile) rs377384792 0.00006
NM_001365276.2(TNXB):c.7784A>T (p.Glu2595Val) rs1053418415 0.00006
NM_001365276.2(TNXB):c.8482G>A (p.Ala2828Thr) rs777104401 0.00006
NM_001367624.2(ZNF469):c.11060C>T (p.Ser3687Phe) rs745344513 0.00006
NM_001367624.2(ZNF469):c.11317C>T (p.Arg3773Trp) rs976249492 0.00006
NM_001367624.2(ZNF469):c.11464G>A (p.Val3822Ile) rs950210847 0.00006
NM_001367624.2(ZNF469):c.11546G>A (p.Arg3849Gln) rs775672255 0.00006
NM_001367624.2(ZNF469):c.1781C>T (p.Pro594Leu) rs757534069 0.00006
NM_001367624.2(ZNF469):c.4012G>A (p.Ala1338Thr) rs891391047 0.00006
NM_001367624.2(ZNF469):c.4574G>C (p.Ser1525Thr) rs545662898 0.00006
NM_001367624.2(ZNF469):c.4771G>T (p.Ala1591Ser) rs755066385 0.00006
NM_001367624.2(ZNF469):c.4919C>T (p.Ala1640Val) rs867915419 0.00006
NM_001367624.2(ZNF469):c.5014C>T (p.Leu1672Phe) rs754238957 0.00006
NM_001367624.2(ZNF469):c.5347G>A (p.Ala1783Thr) rs754873241 0.00006
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser) rs537085488 0.00006
NM_001367624.2(ZNF469):c.6340G>A (p.Ala2114Thr) rs1243898549 0.00006
NM_001367624.2(ZNF469):c.7373C>T (p.Thr2458Ile) rs765397845 0.00006
NM_001367624.2(ZNF469):c.7574C>T (p.Pro2525Leu) rs756003807 0.00006
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser) rs761603858 0.00006
NM_001367624.2(ZNF469):c.8806G>A (p.Glu2936Lys) rs762301873 0.00006
NM_001367624.2(ZNF469):c.9008C>T (p.Pro3003Leu) rs774968087 0.00006
NM_001367624.2(ZNF469):c.9593C>T (p.Ala3198Val) rs1029446515 0.00006
NM_001368067.1(LDB3):c.415G>A (p.Glu139Lys) rs374613600 0.00006
NM_001378454.1(ALMS1):c.10354A>G (p.Asn3452Asp) rs573748379 0.00006
NM_001378454.1(ALMS1):c.11414G>A (p.Arg3805Gln) rs201646938 0.00006
NM_001378454.1(ALMS1):c.11968C>G (p.Pro3990Ala) rs189851617 0.00006
NM_001378454.1(ALMS1):c.11971A>G (p.Ile3991Val) rs368146962 0.00006
NM_001378454.1(ALMS1):c.12330C>G (p.Ile4110Met) rs375524122 0.00006
NM_001378454.1(ALMS1):c.12389A>G (p.Gln4130Arg) rs371587051 0.00006
NM_001378454.1(ALMS1):c.1834A>C (p.Thr612Pro) rs775286973 0.00006
NM_001378454.1(ALMS1):c.2570C>T (p.Ser857Phe) rs538743256 0.00006
NM_001378454.1(ALMS1):c.3255G>C (p.Gln1085His) rs181507134 0.00006
NM_001378454.1(ALMS1):c.3568A>G (p.Thr1190Ala) rs772287164 0.00006
NM_001378454.1(ALMS1):c.4405C>A (p.Pro1469Thr) rs373638043 0.00006
NM_001378454.1(ALMS1):c.5827C>T (p.Arg1943Cys) rs370398704 0.00006
NM_001378454.1(ALMS1):c.7359G>T (p.Lys2453Asn) rs1400122858 0.00006
NM_001378454.1(ALMS1):c.7367T>C (p.Ile2456Thr) rs894421376 0.00006
NM_001378454.1(ALMS1):c.757C>T (p.Pro253Ser) rs368153355 0.00006
NM_001378454.1(ALMS1):c.7846C>T (p.Arg2616Trp) rs145383239 0.00006
NM_001378454.1(ALMS1):c.8168C>A (p.Ser2723Tyr) rs368409205 0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 0.00006
NM_001378969.1(KCND3):c.1889G>A (p.Arg630Gln) rs774713377 0.00006
NM_001379200.1(TBX1):c.1352G>C (p.Arg451Pro) rs755937050 0.00006
NM_001458.5(FLNC):c.2596G>A (p.Asp866Asn) rs201006462 0.00006
NM_001458.5(FLNC):c.3458T>G (p.Phe1153Cys) rs138663492 0.00006
NM_001458.5(FLNC):c.3772C>T (p.Pro1258Ser) rs374764212 0.00006
NM_001458.5(FLNC):c.3887C>T (p.Ser1296Leu) rs747587140 0.00006
NM_001458.5(FLNC):c.469C>T (p.Arg157Cys) rs759739899 0.00006
NM_001458.5(FLNC):c.4991C>T (p.Thr1664Met) rs780829334 0.00006
NM_001458.5(FLNC):c.5071G>A (p.Asp1691Asn) rs777061037 0.00006
NM_001458.5(FLNC):c.5264C>G (p.Ala1755Gly) rs1286156977 0.00006
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met) rs140857707 0.00006
NM_001458.5(FLNC):c.5791C>T (p.Arg1931Cys) rs562155863 0.00006
NM_001458.5(FLNC):c.6134G>A (p.Arg2045Gln) rs747196571 0.00006
NM_001458.5(FLNC):c.7090C>T (p.Arg2364Cys) rs374973240 0.00006
NM_001458.5(FLNC):c.7366G>A (p.Val2456Ile) rs770796119 0.00006
NM_001927.4(DES):c.299A>C (p.Glu100Ala) rs762738069 0.00006
NM_001943.5(DSG2):c.1949C>T (p.Thr650Ile) rs373512167 0.00006
NM_001943.5(DSG2):c.2033G>C (p.Gly678Ala) rs372494397 0.00006
NM_001943.5(DSG2):c.98A>G (p.Asn33Ser) rs727505205 0.00006
NM_001999.4(FBN2):c.7963G>A (p.Glu2655Lys) rs753526426 0.00006
NM_002230.4(JUP):c.109G>A (p.Val37Ile) rs150769772 0.00006
NM_002230.4(JUP):c.1520A>G (p.Asn507Ser) rs1555599849 0.00006
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser) rs766491800 0.00006
NM_002317.7(LOX):c.460C>T (p.Leu154Phe) rs767855588 0.00006
NM_002317.7(LOX):c.463A>G (p.Ser155Gly) rs775070523 0.00006
NM_002317.7(LOX):c.741T>G (p.Ser247Arg) rs768419742 0.00006
NM_002471.4(MYH6):c.100C>T (p.Arg34Cys) rs765792077 0.00006
NM_002471.4(MYH6):c.1327C>T (p.Arg443Cys) rs182373896 0.00006
NM_002471.4(MYH6):c.1328G>A (p.Arg443His) rs202096001 0.00006
NM_002471.4(MYH6):c.1628A>G (p.Lys543Arg) rs367663906 0.00006
NM_002471.4(MYH6):c.1702C>T (p.Arg568Cys) rs149650190 0.00006
NM_002471.4(MYH6):c.2258T>C (p.Ile753Thr) rs369729808 0.00006
NM_002471.4(MYH6):c.226G>A (p.Val76Met) rs977234074 0.00006
NM_002471.4(MYH6):c.2306C>T (p.Ala769Val) rs139182991 0.00006
NM_002471.4(MYH6):c.2600A>G (p.Lys867Arg) rs143284278 0.00006
NM_002471.4(MYH6):c.2685G>A (p.Ala895=) rs752345245 0.00006
NM_002471.4(MYH6):c.2716C>T (p.Arg906Cys) rs143928061 0.00006
NM_002471.4(MYH6):c.2738A>G (p.Asn913Ser) rs138213182 0.00006
NM_002471.4(MYH6):c.3073T>A (p.Ser1025Thr) rs371209775 0.00006
NM_002471.4(MYH6):c.3427C>T (p.Arg1143Trp) rs755209382 0.00006
NM_002471.4(MYH6):c.3619G>A (p.Glu1207Lys) rs397516762 0.00006
NM_002471.4(MYH6):c.3923T>G (p.Leu1308Arg) rs776486154 0.00006
NM_002471.4(MYH6):c.4216G>A (p.Val1406Met) rs201566738 0.00006
NM_002471.4(MYH6):c.4573G>A (p.Val1525Met) rs900579440 0.00006
NM_002471.4(MYH6):c.4723G>A (p.Glu1575Lys) rs371067114 0.00006
NM_002471.4(MYH6):c.4747G>A (p.Glu1583Lys) rs397516771 0.00006
NM_002471.4(MYH6):c.5095C>T (p.Arg1699Trp) rs766345714 0.00006
NM_002471.4(MYH6):c.5102G>A (p.Arg1701Gln) rs762103586 0.00006
NM_002471.4(MYH6):c.5141G>C (p.Arg1714Pro) rs777682189 0.00006
NM_002471.4(MYH6):c.5257G>C (p.Ala1753Pro) rs142437308 0.00006
NM_002471.4(MYH6):c.5458C>T (p.Arg1820Trp) rs111473291 0.00006
NM_002471.4(MYH6):c.5656G>A (p.Glu1886Lys) rs138864419 0.00006
NM_002709.3(PPP1CB):c.968C>T (p.Pro323Leu) rs202171795 0.00006
NM_002755.4(MAP2K1):c.277G>A (p.Val93Ile) rs151207265 0.00006
NM_002880.4(RAF1):c.1814C>T (p.Ser605Phe) rs730881004 0.00006
NM_003098.3(SNTA1):c.1147G>A (p.Val383Met) rs767361112 0.00006
NM_003280.3(TNNC1):c.195C>T (p.Asp65=) rs370426309 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003673.4(TCAP):c.226C>T (p.Arg76Cys) rs572836774 0.00006
NM_003673.4(TCAP):c.480G>A (p.Met160Ile) rs755395354 0.00006
NM_003803.4(MYOM1):c.2717A>C (p.Glu906Ala) rs760763098 0.00006
NM_004006.3(DMD):c.11041A>T (p.Arg3681Ter) rs1477369230 0.00006
NM_004006.3(DMD):c.2209C>T (p.Arg737Cys) rs762960280 0.00006
NM_004006.3(DMD):c.3082C>T (p.Arg1028Cys) rs146384458 0.00006
NM_004006.3(DMD):c.43G>C (p.Asp15His) rs876657780 0.00006
NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu) rs144718274 0.00006
NM_004006.3(DMD):c.6863A>G (p.Gln2288Arg) rs762708936 0.00006
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile) rs1057519106 0.00006
NM_004006.3(DMD):c.8219A>G (p.Asp2740Gly) rs771051897 0.00006
NM_004006.3(DMD):c.8399T>C (p.Leu2800Ser) rs398124071 0.00006
NM_004100.5(EYA4):c.252T>A (p.Ser84Arg) rs758076073 0.00006
NM_004281.4(BAG3):c.-4C>T rs727502894 0.00006
NM_004281.4(BAG3):c.1214C>T (p.Ala405Val) rs11199064 0.00006
NM_004281.4(BAG3):c.1523A>G (p.Tyr508Cys) rs747583925 0.00006
NM_004281.4(BAG3):c.167C>G (p.Ser56Cys) rs777100532 0.00006
NM_004281.4(BAG3):c.487C>T (p.Pro163Ser) rs746956979 0.00006
NM_004281.4(BAG3):c.574G>A (p.Gly192Ser) rs201487919 0.00006
NM_004281.4(BAG3):c.785C>T (p.Ala262Val) rs397516883 0.00006
NM_004387.4(NKX2-5):c.65A>G (p.Gln22Arg) rs201442000 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.4793T>A (p.Leu1598Gln) rs369449858 0.00006
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser) rs149773722 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_004444.5(EPHB4):c.1300C>T (p.Pro434Ser) rs764213009 0.00006
NM_004588.5(SCN2B):c.478G>A (p.Val160Met) rs774317271 0.00006
NM_004588.5(SCN2B):c.629C>T (p.Pro210Leu) rs144248214 0.00006
NM_005472.5(KCNE3):c.120C>G (p.Asp40Glu) rs141880803 0.00006
NM_005477.3(HCN4):c.1636G>A (p.Asp546Asn) rs370884239 0.00006
NM_005477.3(HCN4):c.2605G>A (p.Ala869Thr) rs775134377 0.00006
NM_005477.3(HCN4):c.2917G>A (p.Gly973Arg) rs200495478 0.00006
NM_005477.3(HCN4):c.3461G>A (p.Arg1154Gln) rs145862018 0.00006
NM_005477.3(HCN4):c.434C>T (p.Pro145Leu) rs768272301 0.00006
NM_005477.3(HCN4):c.597G>T (p.Gln199His) rs768734319 0.00006
NM_005477.3(HCN4):c.995G>A (p.Arg332Gln) rs368164073 0.00006
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val) rs753324965 0.00006
NM_005502.4(ABCA1):c.6557C>T (p.Ser2186Phe) rs372207376 0.00006
NM_005633.4(SOS1):c.2225T>C (p.Ile742Thr) rs767494615 0.00006
NM_005633.4(SOS1):c.3515T>C (p.Met1172Thr) rs537874171 0.00006
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) rs553805862 0.00006
NM_005751.5(AKAP9):c.109A>G (p.Lys37Glu) rs752156538 0.00006
NM_005751.5(AKAP9):c.11234G>A (p.Gly3745Glu) rs140853603 0.00006
NM_005751.5(AKAP9):c.1396C>T (p.Arg466Trp) rs373876340 0.00006
NM_005751.5(AKAP9):c.3350G>A (p.Arg1117His) rs546600149 0.00006
NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys) rs1424485718 0.00006
NM_005751.5(AKAP9):c.4189C>G (p.Gln1397Glu) rs749340561 0.00006
NM_005751.5(AKAP9):c.5468A>T (p.Gln1823Leu) rs147772200 0.00006
NM_005751.5(AKAP9):c.5705G>A (p.Arg1902His) rs369082700 0.00006
NM_005751.5(AKAP9):c.7314A>T (p.Glu2438Asp) rs138468216 0.00006
NM_005751.5(AKAP9):c.8654C>T (p.Ser2885Leu) rs759179468 0.00006
NM_005751.5(AKAP9):c.9244C>T (p.Leu3082Phe) rs377611430 0.00006
NM_006073.4(TRDN):c.1105G>A (p.Ala369Thr) rs369198088 0.00006
NM_006073.4(TRDN):c.2084A>T (p.Asp695Val) rs202040879 0.00006
NM_006073.4(TRDN):c.550G>T (p.Ala184Ser) rs576028226 0.00006
NM_006440.5(TXNRD2):c.1091G>A (p.Arg364Gln) rs199734322 0.00006
NM_006440.5(TXNRD2):c.1126A>G (p.Arg376Gly) rs371547623 0.00006
NM_006440.5(TXNRD2):c.1157C>A (p.Ser386Tyr) rs377598025 0.00006
NM_006440.5(TXNRD2):c.1559C>G (p.Thr520Arg) rs774708598 0.00006
NM_006440.5(TXNRD2):c.820C>T (p.Arg274Trp) rs571571452 0.00006
NM_006514.4(SCN10A):c.3439C>T (p.Arg1147Cys) rs373470651 0.00006
NM_006939.4(SOS2):c.3868C>G (p.Pro1290Ala) rs761580972 0.00006
NM_006939.4(SOS2):c.674G>A (p.Arg225Gln) rs780580623 0.00006
NM_007078.3(LDB3):c.533G>A (p.Arg178Gln) rs143311349 0.00006
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg) rs771099131 0.00006
NM_007078.3(LDB3):c.713C>A (p.Ala238Asp) rs369398522 0.00006
NM_012186.3(FOXE3):c.457G>C (p.Asp153His) rs367943249 0.00006
NM_014000.3(VCL):c.1195A>C (p.Asn399His) rs377228795 0.00006
NM_014000.3(VCL):c.2467C>T (p.Arg823Trp) rs779047174 0.00006
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln) rs759202535 0.00006
NM_014000.3(VCL):c.2531C>T (p.Pro844Leu) rs145393322 0.00006
NM_014391.3(ANKRD1):c.544C>T (p.Arg182Cys) rs754717867 0.00006
NM_014908.4(DOLK):c.1139G>A (p.Arg380His) rs553112177 0.00006
NM_014908.4(DOLK):c.323A>G (p.Glu108Gly) rs779008975 0.00006
NM_014908.4(DOLK):c.914C>G (p.Ser305Cys) rs766759178 0.00006
NM_015141.4(GPD1L):c.1004G>A (p.Arg335Lys) rs369439723 0.00006
NM_015141.4(GPD1L):c.658C>T (p.Arg220Cys) rs72546647 0.00006
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu) rs182750960 0.00006
NM_016203.4(PRKAG2):c.514C>G (p.Gln172Glu) rs730880972 0.00006
NM_016599.5(MYOZ2):c.745A>G (p.Thr249Ala) rs762234986 0.00006
NM_016938.5(EFEMP2):c.1234G>T (p.Val412Leu) rs146879673 0.00006
NM_016938.5(EFEMP2):c.290C>T (p.Pro97Leu) rs779247685 0.00006
NM_016938.5(EFEMP2):c.506G>A (p.Arg169His) rs141310608 0.00006
NM_016938.5(EFEMP2):c.628G>A (p.Gly210Arg) rs546162289 0.00006
NM_017636.4(TRPM4):c.1817C>G (p.Ala606Gly) rs771088249 0.00006
NM_017636.4(TRPM4):c.1826C>G (p.Ala609Gly) rs547541099 0.00006
NM_017636.4(TRPM4):c.2732C>T (p.Thr911Met) rs148006852 0.00006
NM_017636.4(TRPM4):c.3304T>G (p.Ser1102Ala) rs759574423 0.00006
NM_020297.4(ABCC9):c.1979G>A (p.Arg660Gln) rs150255709 0.00006
NM_020297.4(ABCC9):c.2784C>G (p.Asp928Glu) rs139472403 0.00006
NM_020433.5(JPH2):c.1433C>T (p.Pro478Leu) rs970525996 0.00006
NM_020433.5(JPH2):c.1486C>T (p.Arg496Trp) rs863224775 0.00006
NM_020433.5(JPH2):c.349G>A (p.Gly117Ser) rs1414551155 0.00006
NM_020778.4(ALPK3):c.301G>A (p.Gly101Arg) rs868375261 0.00006
NM_020778.5(ALPK3):c.1616C>T (p.Thr539Met) rs750057517 0.00006
NM_020778.5(ALPK3):c.256C>T (p.Arg86Trp) rs201202701 0.00006
NM_020778.5(ALPK3):c.2753C>T (p.Thr918Ile) rs202161551 0.00006
NM_020778.5(ALPK3):c.3113G>A (p.Arg1038His) rs146371614 0.00006
NM_020778.5(ALPK3):c.3319C>G (p.Gln1107Glu) rs767926913 0.00006
NM_020778.5(ALPK3):c.3736G>A (p.Gly1246Ser) rs765178304 0.00006
NM_020778.5(ALPK3):c.4309G>A (p.Glu1437Lys) rs747233148 0.00006
NM_020778.5(ALPK3):c.4726G>A (p.Val1576Ile) rs769823625 0.00006
NM_021167.5(GATAD1):c.-3A>G rs776854919 0.00006
NM_021167.5(GATAD1):c.770C>T (p.Pro257Leu) rs145306938 0.00006
NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr) rs374012053 0.00006
NM_022436.3(ABCG5):c.78G>T (p.Glu26Asp) rs144622073 0.00006
NM_022436.3(ABCG5):c.98C>G (p.Pro33Arg) rs778605187 0.00006
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro) rs769576789 0.00006
NM_022437.3(ABCG8):c.1752G>C (p.Trp584Cys) rs754182905 0.00006
NM_022437.3(ABCG8):c.1754C>T (p.Thr585Ile) rs1186922426 0.00006
NM_022437.3(ABCG8):c.611G>A (p.Arg204His) rs144730815 0.00006
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser) rs777245868 0.00006
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) rs746905689 0.00006
NM_024301.5(FKRP):c.563C>T (p.Ala188Val) rs768762059 0.00006
NM_024334.3(TMEM43):c.214G>A (p.Val72Met) rs368603914 0.00006
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu) rs140380494 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_030777.4(SLC2A10):c.610G>A (p.Gly204Ser) rs755339268 0.00006
NM_032578.4(MYPN):c.1103G>A (p.Gly368Asp) rs555527385 0.00006
NM_032578.4(MYPN):c.1130+3A>C rs770005365 0.00006
NM_032578.4(MYPN):c.1466G>A (p.Arg489Gln) rs141031460 0.00006
NM_032578.4(MYPN):c.1757A>G (p.Asn586Ser) rs550455783 0.00006
NM_032578.4(MYPN):c.2507C>T (p.Ser836Phe) rs376141715 0.00006
NM_032578.4(MYPN):c.2974T>G (p.Cys992Gly) rs367955895 0.00006
NM_032578.4(MYPN):c.3440T>A (p.Ile1147Asn) rs201600440 0.00006
NM_032578.4(MYPN):c.3763G>A (p.Val1255Met) rs750655311 0.00006
NM_032578.4(MYPN):c.782A>G (p.Tyr261Cys) rs148034353 0.00006
NM_130468.4(CHST14):c.1118C>T (p.Ala373Val) rs756985970 0.00006
NM_144573.4(NEXN):c.1189C>T (p.Arg397Trp) rs754281087 0.00006
NM_144573.4(NEXN):c.1957A>G (p.Met653Val) rs765745920 0.00006
NM_144573.4(NEXN):c.2012T>C (p.Ile671Thr) rs747781785 0.00006
NM_144573.4(NEXN):c.250G>A (p.Glu84Lys) rs547319928 0.00006
NM_144573.4(NEXN):c.447+5C>T rs727503343 0.00006
NM_144573.4(NEXN):c.687+4A>T rs754061340 0.00006
NM_152594.3(SPRED1):c.1283G>A (p.Arg428His) rs369492789 0.00006
NM_152594.3(SPRED1):c.640C>T (p.Arg214Trp) rs376699107 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_174934.4(SCN4B):c.469G>C (p.Glu157Gln) rs746647997 0.00006
NM_174936.4(PCSK9):c.166C>T (p.Pro56Ser) rs775521571 0.00006
NM_174936.4(PCSK9):c.1976G>T (p.Arg659Leu) rs780214893 0.00006
NM_174936.4(PCSK9):c.310C>T (p.Arg104Cys) rs369067856 0.00006
NM_178172.6(GPIHBP1):c.31C>T (p.Leu11Phe) rs370545732 0.00006
NM_181486.4(TBX5):c.1396G>A (p.Val466Met) rs765443283 0.00006
NM_201596.3(CACNB2):c.1178T>C (p.Ile393Thr) rs139749312 0.00006
NM_201596.3(CACNB2):c.1180G>A (p.Val394Ile) rs149793143 0.00006
NM_201596.3(CACNB2):c.1303-4G>A rs765944934 0.00006
NM_201596.3(CACNB2):c.1681G>A (p.Glu561Lys) rs199714857 0.00006
NM_201596.3(CACNB2):c.1708C>G (p.Pro570Ala) rs151274272 0.00006
NM_201596.3(CACNB2):c.1822C>T (p.Arg608Cys) rs994878062 0.00006
NM_000039.3(APOA1):c.526G>A (p.Ala176Thr) rs146623682 0.00005
NM_000088.4(COL1A1):c.1200+5G>A rs374322003 0.00005
NM_000089.4(COL1A2):c.1268G>A (p.Arg423His) rs764780528 0.00005
NM_000089.4(COL1A2):c.1880T>C (p.Val627Ala) rs760732696 0.00005
NM_000089.4(COL1A2):c.701G>A (p.Arg234His) rs376341785 0.00005
NM_000117.3(EMD):c.166G>A (p.Ala56Thr) rs1057520579 0.00005
NM_000117.3(EMD):c.215A>T (p.Asp72Val) rs794729021 0.00005
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg) rs142487534 0.00005
NM_000169.3(GLA):c.619T>C (p.Tyr207His) rs372416832 0.00005
NM_000169.3(GLA):c.755G>C (p.Arg252Thr) rs147026639 0.00005
NM_000214.3(JAG1):c.1195G>A (p.Val399Met) rs181970528 0.00005
NM_000214.3(JAG1):c.2287G>A (p.Gly763Ser) rs746939887 0.00005
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met) rs751809412 0.00005
NM_000218.3(KCNQ1):c.1128+4C>T rs201590918 0.00005
NM_000218.3(KCNQ1):c.1553G>A (p.Arg518Gln) rs145974930 0.00005
NM_000218.3(KCNQ1):c.1885G>A (p.Gly629Ser) rs775608046 0.00005
NM_000218.3(KCNQ1):c.197C>A (p.Ser66Tyr) rs199473446 0.00005
NM_000218.3(KCNQ1):c.860C>A (p.Ala287Glu) rs199472735 0.00005
NM_000238.4(KCNH2):c.2696C>T (p.Thr899Met) rs1480554629 0.00005
NM_000238.4(KCNH2):c.491G>A (p.Arg164His) rs199472866 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.836G>C (p.Gly279Ala) rs375774648 0.00005
NM_000257.4(MYH7):c.4294G>A (p.Val1432Ile) rs144200285 0.00005
NM_000257.4(MYH7):c.4840G>A (p.Val1614Met) rs1200299259 0.00005
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_000257.4(MYH7):c.5559+4C>T rs727504319 0.00005
NM_000335.5(SCN5A):c.1654G>T (p.Gly552Trp) rs3918389 0.00005
NM_000335.5(SCN5A):c.2077C>T (p.Arg693Cys) rs375306544 0.00005
NM_000335.5(SCN5A):c.3232T>A (p.Ser1078Thr) rs376183542 0.00005
NM_000335.5(SCN5A):c.3521G>A (p.Arg1174His) rs374314562 0.00005
NM_000335.5(SCN5A):c.4811-5C>T rs765962519 0.00005
NM_000371.4(TTR):c.13C>T (p.Arg5Cys) rs144792001 0.00005
NM_000371.4(TTR):c.385G>A (p.Ala129Thr) rs267607159 0.00005
NM_000384.3(APOB):c.11018A>G (p.Lys3673Arg) rs374411400 0.00005
NM_000384.3(APOB):c.12614C>T (p.Pro4205Leu) rs375471570 0.00005
NM_000384.3(APOB):c.2657A>G (p.Asn886Ser) rs183398286 0.00005
NM_000384.3(APOB):c.6125T>C (p.Met2042Thr) rs371224295 0.00005
NM_000384.3(APOB):c.7057C>A (p.Gln2353Lys) rs758067709 0.00005
NM_000384.3(APOB):c.7655A>G (p.Asp2552Gly) rs779100523 0.00005
NM_000432.4(MYL2):c.433G>A (p.Asp145Asn) rs199567559 0.00005
NM_000432.4(MYL2):c.469C>T (p.His157Tyr) rs777223055 0.00005
NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val) rs755028000 0.00005
NM_000719.7(CACNA1C):c.5144G>A (p.Arg1715Gln) rs376706496 0.00005
NM_000719.7(CACNA1C):c.76G>A (p.Ala26Thr) rs369483452 0.00005
NM_000722.4(CACNA2D1):c.2791C>G (p.Gln931Glu) rs145110338 0.00005
NM_000722.4(CACNA2D1):c.2861C>T (p.Thr954Met) rs111888027 0.00005
NM_000722.4(CACNA2D1):c.2914G>A (p.Asp972Asn) rs776720930 0.00005
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser) rs375605948 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.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_001077653.2(TBX20):c.86C>G (p.Ser29Cys) rs13237089 0.00005
NM_001079802.2(FKTN):c.437G>A (p.Arg146Gln) rs143748939 0.00005
NM_001103.4(ACTN2):c.127-3C>A rs368775036 0.00005
NM_001103.4(ACTN2):c.1324C>T (p.Arg442Trp) rs769073315 0.00005
NM_001103.4(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335 0.00005
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) rs777124854 0.00005
NM_001105206.3(LAMA4):c.1837A>G (p.Met613Val) rs371083384 0.00005
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=) rs782058486 0.00005
NM_001105206.3(LAMA4):c.2626G>A (p.Glu876Lys) rs147206383 0.00005
NM_001105206.3(LAMA4):c.3406T>C (p.Tyr1136His) rs148462898 0.00005
NM_001105206.3(LAMA4):c.4572G>C (p.Leu1524Phe) rs145315273 0.00005
NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys) rs770328474 0.00005
NM_001134363.3(RBM20):c.523A>G (p.Ser175Gly) rs553309602 0.00005
NM_001148.6(ANK2):c.11557G>A (p.Asp3853Asn) rs754642933 0.00005
NM_001148.6(ANK2):c.229G>A (p.Val77Met) rs776254819 0.00005
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val) rs146125558 0.00005
NM_001159699.2(FHL1):c.817G>A (p.Val273Met) rs190006104 0.00005
NM_001232.4(CASQ2):c.158G>T (p.Cys53Phe) rs151168851 0.00005
NM_001232.4(CASQ2):c.173A>T (p.Glu58Val) rs764732977 0.00005
NM_001267550.2(TTN):c.101251A>C (p.Asn33751His) rs753658469 0.00005
NM_001267550.2(TTN):c.102173G>A (p.Arg34058Lys) rs886039007 0.00005
NM_001267550.2(TTN):c.102451G>C (p.Gly34151Arg) rs191522469 0.00005
NM_001267550.2(TTN):c.104581C>T (p.Arg34861Cys) rs398124463 0.00005
NM_001267550.2(TTN):c.105521G>A (p.Arg35174His) rs756575734 0.00005
NM_001267550.2(TTN):c.106388G>C (p.Gly35463Ala) rs373369136 0.00005
NM_001267550.2(TTN):c.2274C>T (p.His758=) rs772664968 0.00005
NM_001267550.2(TTN):c.2506G>A (p.Gly836Ser) rs751157908 0.00005
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys) rs371156190 0.00005
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln) rs368885310 0.00005
NM_001267550.2(TTN):c.3148A>G (p.Thr1050Ala) rs940553223 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.4321C>T (p.Arg1441Cys) rs146241078 0.00005
NM_001267550.2(TTN):c.47942C>T (p.Thr15981Met) rs150364979 0.00005
NM_001267550.2(TTN):c.4945G>A (p.Val1649Ile) rs138931943 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54999A>T (p.Glu18333Asp) rs764950995 0.00005
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00005
NM_001267550.2(TTN):c.61289G>A (p.Cys20430Tyr) rs527704660 0.00005
NM_001267550.2(TTN):c.61992C>G (p.Asn20664Lys) rs376455983 0.00005
NM_001267550.2(TTN):c.66527C>T (p.Ser22176Phe) rs779303152 0.00005
NM_001267550.2(TTN):c.70102A>G (p.Ile23368Val) rs367914610 0.00005
NM_001267550.2(TTN):c.71699G>A (p.Arg23900Gln) rs369292052 0.00005
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_001267550.2(TTN):c.8312T>C (p.Ile2771Thr) rs780465670 0.00005
NM_001267550.2(TTN):c.84072A>C (p.Glu28024Asp) rs377540780 0.00005
NM_001267550.2(TTN):c.84362C>A (p.Thr28121Lys) rs397517726 0.00005
NM_001267550.2(TTN):c.84848A>G (p.Lys28283Arg) rs545841306 0.00005
NM_001267550.2(TTN):c.87010G>A (p.Gly29004Ser) rs761251825 0.00005
NM_001267550.2(TTN):c.89711G>A (p.Arg29904His) rs397517744 0.00005
NM_001267550.2(TTN):c.92451G>T (p.Glu30817Asp) rs397517755 0.00005
NM_001267550.2(TTN):c.93130G>A (p.Gly31044Ser) rs750213547 0.00005
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser) rs886042885 0.00005
NM_001267550.2(TTN):c.97378A>G (p.Lys32460Glu) rs965156924 0.00005
NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr) rs781572378 0.00005
NM_001267550.2(TTN):c.97480C>T (p.Arg32494Cys) rs727503539 0.00005
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr) rs201226974 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_001289808.2(CRYAB):c.470G>A (p.Arg157His) rs141638421 0.00005
NM_001365276.2(TNXB):c.2224G>A (p.Gly742Ser) rs372262597 0.00005
NM_001365276.2(TNXB):c.3140G>T (p.Gly1047Val) rs753232337 0.00005
NM_001365276.2(TNXB):c.4916G>A (p.Arg1639His) rs756221645 0.00005
NM_001365276.2(TNXB):c.6469C>T (p.Arg2157Cys) rs369153948 0.00005
NM_001365276.2(TNXB):c.6976C>A (p.Pro2326Thr) rs757980679 0.00005
NM_001365276.2(TNXB):c.7459C>T (p.Arg2487Cys) rs747880757 0.00005
NM_001365276.2(TNXB):c.8141C>T (p.Thr2714Met) rs1192872355 0.00005
NM_001365276.2(TNXB):c.8273T>C (p.Ile2758Thr) rs780826246 0.00005
NM_001365276.2(TNXB):c.8393G>A (p.Arg2798His) rs372230994 0.00005
NM_001365276.2(TNXB):c.9212C>T (p.Ala3071Val) rs753102887 0.00005
NM_001365276.2(TNXB):c.9488C>G (p.Ala3163Gly) rs561810058 0.00005
NM_001367624.2(ZNF469):c.186G>T (p.Glu62Asp) rs770775791 0.00005
NM_001367624.2(ZNF469):c.3890G>A (p.Gly1297Asp) rs750571274 0.00005
NM_001367624.2(ZNF469):c.7130C>T (p.Pro2377Leu) rs768036751 0.00005
NM_001367624.2(ZNF469):c.9050G>A (p.Ser3017Asn) rs1383712865 0.00005
NM_001367624.2(ZNF469):c.9100G>A (p.Gly3034Arg) rs930113352 0.00005
NM_001367624.2(ZNF469):c.9419C>T (p.Ala3140Val) rs892510413 0.00005
NM_001378454.1(ALMS1):c.11548-3T>C rs555547573 0.00005
NM_001378454.1(ALMS1):c.11792A>G (p.Glu3931Gly) rs776808559 0.00005
NM_001378454.1(ALMS1):c.12310A>G (p.Ile4104Val) rs780286947 0.00005
NM_001378454.1(ALMS1):c.2629A>G (p.Asn877Asp) rs776351580 0.00005
NM_001378454.1(ALMS1):c.3860C>T (p.Ser1287Leu) rs375231416 0.00005
NM_001378454.1(ALMS1):c.4173C>A (p.Phe1391Leu) rs370406004 0.00005
NM_001378454.1(ALMS1):c.4483C>G (p.Leu1495Val) rs373213201 0.00005
NM_001378454.1(ALMS1):c.4987A>G (p.Thr1663Ala) rs770424780 0.00005
NM_001378454.1(ALMS1):c.6143A>G (p.Tyr2048Cys) rs201162418 0.00005
NM_001378454.1(ALMS1):c.6299A>T (p.Lys2100Ile) rs373286582 0.00005
NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr) rs200724860 0.00005
NM_001378454.1(ALMS1):c.9769C>T (p.Arg3257Cys) rs373998843 0.00005
NM_001378454.1(ALMS1):c.9937C>G (p.Pro3313Ala) rs762967276 0.00005
NM_001379200.1(TBX1):c.1374C>G (p.His458Gln) rs747623105 0.00005
NM_001379200.1(TBX1):c.1474G>A (p.Gly492Arg) rs541198585 0.00005
NM_001458.5(FLNC):c.15C>A (p.Ser5Arg) rs759632330 0.00005
NM_001458.5(FLNC):c.2272G>A (p.Val758Met) rs371418145 0.00005
NM_001458.5(FLNC):c.2425G>A (p.Val809Met) rs775770671 0.00005
NM_001458.5(FLNC):c.2888C>T (p.Pro963Leu) rs963838554 0.00005
NM_001458.5(FLNC):c.3209C>T (p.Pro1070Leu) rs370391049 0.00005
NM_001458.5(FLNC):c.3502G>A (p.Gly1168Ser) rs199814952 0.00005
NM_001458.5(FLNC):c.4054C>T (p.Arg1352Cys) rs367931139 0.00005
NM_001458.5(FLNC):c.4092G>C (p.Leu1364Phe) rs768635501 0.00005
NM_001458.5(FLNC):c.4222G>A (p.Glu1408Lys) rs965589915 0.00005
NM_001458.5(FLNC):c.4627C>T (p.Arg1543Trp) rs745648230 0.00005
NM_001458.5(FLNC):c.517G>T (p.Val173Leu) rs376235207 0.00005
NM_001458.5(FLNC):c.5285G>A (p.Arg1762His) rs779856224 0.00005
NM_001458.5(FLNC):c.5431C>T (p.Arg1811Trp) rs374794518 0.00005
NM_001458.5(FLNC):c.6052C>T (p.Arg2018Cys) rs1335627502 0.00005
NM_001458.5(FLNC):c.64C>T (p.Pro22Ser) rs368812043 0.00005
NM_001458.5(FLNC):c.7111G>A (p.Val2371Ile) rs552252122 0.00005
NM_001927.4(DES):c.1009G>A (p.Ala337Thr) rs59962885 0.00005
NM_001927.4(DES):c.1123C>T (p.Arg375Trp) rs375218723 0.00005
NM_001927.4(DES):c.1371+1G>A rs748323823 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.862G>A (p.Val288Ile) rs780374242 0.00005
NM_001943.5(DSG2):c.961T>A (p.Phe321Ile) rs201040643 0.00005
NM_002230.4(JUP):c.998G>A (p.Arg333His) rs727503099 0.00005
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) rs3180515 0.00005
NM_002317.7(LOX):c.1190G>A (p.Arg397His) rs749796906 0.00005
NM_002317.7(LOX):c.263G>A (p.Arg88His) rs369178929 0.00005
NM_002471.4(MYH6):c.1177T>G (p.Ser393Ala) rs199877580 0.00005
NM_002471.4(MYH6):c.1703G>A (p.Arg568His) rs376291577 0.00005
NM_002471.4(MYH6):c.190G>A (p.Glu64Lys) rs750818212 0.00005
NM_002471.4(MYH6):c.2354G>A (p.Arg785His) rs769341738 0.00005
NM_002471.4(MYH6):c.3347G>A (p.Arg1116His) rs369247906 0.00005
NM_002471.4(MYH6):c.3785G>A (p.Arg1262His) rs544358806 0.00005
NM_002471.4(MYH6):c.5642A>G (p.Lys1881Arg) rs750886219 0.00005
NM_002471.4(MYH6):c.5690A>G (p.Lys1897Arg) rs765849175 0.00005
NM_002471.4(MYH6):c.611G>A (p.Arg204His) rs200623022 0.00005
NM_003098.3(SNTA1):c.1015C>T (p.Arg339Cys) rs138164106 0.00005
NM_003098.3(SNTA1):c.782C>T (p.Ala261Val) rs139467962 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_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_004006.3(DMD):c.10228G>A (p.Val3410Ile) rs751030250 0.00005
NM_004006.3(DMD):c.10594G>A (p.Glu3532Lys) rs766716563 0.00005
NM_004006.3(DMD):c.146G>A (p.Arg49His) rs765584669 0.00005
NM_004006.3(DMD):c.2110C>T (p.Pro704Ser) rs1060502638 0.00005
NM_004006.3(DMD):c.2296A>G (p.Ile766Val) rs372490563 0.00005
NM_004006.3(DMD):c.2362G>T (p.Val788Leu) rs756267575 0.00005
NM_004006.3(DMD):c.244C>T (p.Arg82Trp) rs772546251 0.00005
NM_004006.3(DMD):c.3191T>C (p.Met1064Thr) rs140106769 0.00005
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe) rs377156960 0.00005
NM_004006.3(DMD):c.434G>A (p.Arg145Gln) rs398123952 0.00005
NM_004006.3(DMD):c.4845+4A>T rs368357171 0.00005
NM_004006.3(DMD):c.5270T>C (p.Ile1757Thr) rs201516290 0.00005
NM_004006.3(DMD):c.6101A>T (p.Gln2034Leu) rs144754029 0.00005
NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp) rs727503815 0.00005
NM_004006.3(DMD):c.6799C>A (p.Leu2267Ile) rs758654750 0.00005
NM_004006.3(DMD):c.7555G>A (p.Asp2519Asn) rs771877780 0.00005
NM_004006.3(DMD):c.7712G>T (p.Arg2571Leu) rs371588290 0.00005
NM_004006.3(DMD):c.8135C>G (p.Ala2712Gly) rs751599201 0.00005
NM_004006.3(DMD):c.8426G>A (p.Arg2809His) rs778331600 0.00005
NM_004006.3(DMD):c.8609G>A (p.Arg2870Gln) rs373481995 0.00005
NM_004006.3(DMD):c.8851C>T (p.Arg2951Cys) rs760516307 0.00005
NM_004006.3(DMD):c.923C>A (p.Thr308Asn) rs145064612 0.00005
NM_004006.3(DMD):c.9504G>C (p.Leu3168Phe) rs185247491 0.00005
NM_004006.3(DMD):c.9716A>G (p.His3239Arg) rs765865134 0.00005
NM_004281.4(BAG3):c.133C>T (p.Arg45Cys) rs747820097 0.00005
NM_004415.4(DSP):c.3971A>T (p.Asn1324Ile) rs749820299 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.6452G>A (p.Arg2151Gln) rs367759510 0.00005
NM_004415.4(DSP):c.6718C>G (p.Gln2240Glu) rs374262024 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.916G>A (p.Ala306Thr) rs368193211 0.00005
NM_005343.4(HRAS):c.397C>T (p.Leu133Phe) rs776888712 0.00005
NM_005472.5(KCNE3):c.241C>T (p.Arg81Cys) rs542842233 0.00005
NM_005477.3(HCN4):c.1924G>A (p.Val642Met) rs779402752 0.00005
NM_005477.3(HCN4):c.2458G>A (p.Gly820Arg) rs761337460 0.00005
NM_005477.3(HCN4):c.2537C>T (p.Pro846Leu) rs747467877 0.00005
NM_005477.3(HCN4):c.3101C>G (p.Pro1034Arg) rs928266429 0.00005
NM_005477.3(HCN4):c.3134C>T (p.Ala1045Val) rs980750316 0.00005
NM_005477.3(HCN4):c.3305G>A (p.Arg1102His) rs548130184 0.00005
NM_005477.3(HCN4):c.3460C>T (p.Arg1154Trp) rs200896834 0.00005
NM_005633.4(SOS1):c.2312T>C (p.Ile771Thr) rs557328600 0.00005
NM_005751.5(AKAP9):c.10061A>G (p.Glu3354Gly) rs200596189 0.00005
NM_005751.5(AKAP9):c.10361G>A (p.Arg3454Gln) rs377026066 0.00005
NM_005751.5(AKAP9):c.1067A>T (p.Asp356Val) rs533277424 0.00005
NM_005751.5(AKAP9):c.10713+4A>G rs539934550 0.00005
NM_005751.5(AKAP9):c.11291G>A (p.Arg3764Lys) rs146264747 0.00005
NM_005751.5(AKAP9):c.289C>G (p.Gln97Glu) rs786205712 0.00005
NM_005751.5(AKAP9):c.3994G>C (p.Glu1332Gln) rs774110970 0.00005
NM_005751.5(AKAP9):c.4594A>G (p.Asn1532Asp) rs368059326 0.00005
NM_005751.5(AKAP9):c.5471G>A (p.Arg1824Gln) rs970122684 0.00005
NM_005751.5(AKAP9):c.6035C>G (p.Ala2012Gly) rs777752444 0.00005
NM_005751.5(AKAP9):c.6195G>A (p.Met2065Ile) rs369212896 0.00005
NM_005751.5(AKAP9):c.6330+3A>G rs771419309 0.00005
NM_005751.5(AKAP9):c.6376A>C (p.Ser2126Arg) rs775673048 0.00005
NM_005751.5(AKAP9):c.970A>G (p.Ile324Val) rs906395966 0.00005
NM_006073.4(TRDN):c.1276A>C (p.Thr426Pro) rs1040336692 0.00005
NM_006073.4(TRDN):c.1361T>C (p.Val454Ala) rs745960330 0.00005
NM_006073.4(TRDN):c.1471+5T>C rs374426512 0.00005
NM_006073.4(TRDN):c.224A>T (p.Asn75Ile) rs368939536 0.00005
NM_006073.4(TRDN):c.52G>C (p.Asp18His) rs372554839 0.00005
NM_006440.5(TXNRD2):c.1348-2A>G rs768600057 0.00005
NM_006440.5(TXNRD2):c.235C>T (p.Arg79Trp) rs762060966 0.00005
NM_006440.5(TXNRD2):c.850G>C (p.Val284Leu) rs201177571 0.00005
NM_006514.4(SCN10A):c.1267G>A (p.Glu423Lys) rs748821446 0.00005
NM_006514.4(SCN10A):c.14T>C (p.Ile5Thr) rs557317287 0.00005
NM_006514.4(SCN10A):c.1890G>A (p.Lys630=) rs764191883 0.00005
NM_006514.4(SCN10A):c.2341G>A (p.Gly781Arg) rs148851890 0.00005
NM_006514.4(SCN10A):c.2936G>T (p.Gly979Val) rs559166014 0.00005
NM_006514.4(SCN10A):c.3556C>A (p.Leu1186Met) rs192493052 0.00005
NM_006514.4(SCN10A):c.3909C>T (p.Phe1303=) rs928284057 0.00005
NM_006514.4(SCN10A):c.4655C>T (p.Ala1552Val) rs756133876 0.00005
NM_006514.4(SCN10A):c.4777A>T (p.Ile1593Phe) rs762600386 0.00005
NM_006939.4(SOS2):c.244A>G (p.Ile82Val) rs545263131 0.00005
NM_007078.3(LDB3):c.1339C>G (p.Pro447Ala) rs397517211 0.00005
NM_007078.3(LDB3):c.1547G>A (p.Arg516Gln) rs762985970 0.00005
NM_007078.3(LDB3):c.1654G>A (p.Gly552Ser) rs771007816 0.00005
NM_007078.3(LDB3):c.610G>A (p.Ala204Thr) rs774976112 0.00005
NM_007078.3(LDB3):c.668C>T (p.Ser223Leu) rs375306400 0.00005
NM_014000.3(VCL):c.1205C>T (p.Pro402Leu) rs766393966 0.00005
NM_014000.3(VCL):c.1287T>A (p.Asp429Glu) rs139371702 0.00005
NM_014000.3(VCL):c.1583G>A (p.Arg528His) rs746095066 0.00005
NM_014000.3(VCL):c.2273G>A (p.Arg758His) rs371970354 0.00005
NM_014391.3(ANKRD1):c.180G>A (p.Trp60Ter) rs760365338 0.00005
NM_014391.3(ANKRD1):c.187G>A (p.Glu63Lys) rs143588078 0.00005
NM_014391.3(ANKRD1):c.736A>G (p.Asn246Asp) rs368343038 0.00005
NM_014908.4(DOLK):c.1067G>A (p.Arg356Gln) rs199535796 0.00005
NM_014908.4(DOLK):c.1166G>A (p.Arg389Gln) rs201984428 0.00005
NM_014908.4(DOLK):c.1431G>A (p.Met477Ile) rs754150966 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_014908.4(DOLK):c.434G>C (p.Gly145Ala) rs377064301 0.00005
NM_014908.4(DOLK):c.876C>G (p.Phe292Leu) rs147342916 0.00005
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) rs760826751 0.00005
NM_016203.4(PRKAG2):c.1679-3C>T rs371543989 0.00005
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu) rs41317142 0.00005
NM_017636.4(TRPM4):c.3256C>G (p.Arg1086Gly) rs200167232 0.00005
NM_020297.4(ABCC9):c.215G>A (p.Arg72Lys) rs369409311 0.00005
NM_020297.4(ABCC9):c.4512+784A>G rs148547035 0.00005
NM_020433.5(JPH2):c.1420G>A (p.Glu474Lys) rs1033476644 0.00005
NM_020433.5(JPH2):c.1894G>A (p.Glu632Lys) rs200149713 0.00005
NM_020778.4(ALPK3):c.226G>A (p.Gly76Ser) rs758170095 0.00005
NM_020778.5(ALPK3):c.2477C>T (p.Pro826Leu) rs775305251 0.00005
NM_020778.5(ALPK3):c.3124G>A (p.Gly1042Ser) rs561031407 0.00005
NM_020778.5(ALPK3):c.3521C>A (p.Ala1174Glu) rs541005940 0.00005
NM_020778.5(ALPK3):c.4033C>T (p.Arg1345Trp) rs748989211 0.00005
NM_020778.5(ALPK3):c.4575G>T (p.Lys1525Asn) rs116112514 0.00005
NM_020778.5(ALPK3):c.4883C>T (p.Pro1628Leu) rs371706327 0.00005
NM_020778.5(ALPK3):c.5027C>G (p.Ala1676Gly) rs150250443 0.00005
NM_020778.5(ALPK3):c.791G>T (p.Gly264Val) rs747849453 0.00005
NM_021167.5(GATAD1):c.578C>G (p.Ser193Cys) rs780188711 0.00005
NM_021167.5(GATAD1):c.721C>T (p.Pro241Ser) rs779832718 0.00005
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) rs769568971 0.00005
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu) rs375326964 0.00005
NM_024301.5(FKRP):c.295G>A (p.Val99Met) rs776733780 0.00005
NM_024422.6(DSC2):c.1069C>T (p.Arg357Cys) rs879255385 0.00005
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00005
NM_033337.3(CAV3):c.451G>A (p.Val151Ile) rs780870487 0.00005
NM_144573.4(NEXN):c.1088C>G (p.Thr363Arg) rs748351352 0.00005
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile) rs373477920 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_170707.4(LMNA):c.497G>A (p.Arg166Gln) rs267607570 0.00005
NM_174936.4(PCSK9):c.1930G>A (p.Val644Ile) rs143291739 0.00005
NM_174936.4(PCSK9):c.314G>A (p.Arg105Gln) rs754143671 0.00005
NM_181486.4(TBX5):c.1273C>A (p.His425Asn) rs755152246 0.00005
NM_181486.4(TBX5):c.848C>A (p.Thr283Asn) rs147077037 0.00005
NM_000020.3(ACVRL1):c.82C>T (p.Arg28Trp) rs761650726 0.00004
NM_000088.4(COL1A1):c.1109G>A (p.Arg370His) rs750756697 0.00004
NM_000088.4(COL1A1):c.1930-5T>C rs762377921 0.00004
NM_000088.4(COL1A1):c.3247G>A (p.Ala1083Thr) rs372029024 0.00004
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.4168C>T (p.Leu1390Phe) rs768808806 0.00004
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_000088.4(COL1A1):c.428C>G (p.Pro143Arg) rs941273260 0.00004
NM_000089.4(COL1A2):c.1148C>A (p.Pro383His) rs193922159 0.00004
NM_000089.4(COL1A2):c.286A>G (p.Met96Val) rs763509640 0.00004
NM_000089.4(COL1A2):c.3100A>G (p.Ile1034Val) rs746794922 0.00004
NM_000089.4(COL1A2):c.3337G>A (p.Asp1113Asn) rs760490617 0.00004
NM_000090.4(COL3A1):c.1424C>T (p.Ala475Val) rs770168441 0.00004
NM_000152.5(GAA):c.1198G>A (p.Val400Ile) rs758334520 0.00004
NM_000169.3(GLA):c.1261A>G (p.Met421Val) rs144060196 0.00004
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00004
NM_000214.3(JAG1):c.1609G>A (p.Gly537Ser) rs756787187 0.00004
NM_000214.3(JAG1):c.1756G>A (p.Asp586Asn) rs762348061 0.00004
NM_000214.3(JAG1):c.1865C>T (p.Thr622Met) rs764089304 0.00004
NM_000214.3(JAG1):c.2701C>A (p.Pro901Thr) rs372904306 0.00004
NM_000218.3(KCNQ1):c.1033-5C>G rs764094211 0.00004
NM_000218.3(KCNQ1):c.1345G>A (p.Glu449Lys) rs372583676 0.00004
NM_000218.3(KCNQ1):c.1748G>A (p.Arg583His) rs199473482 0.00004
NM_000218.3(KCNQ1):c.242C>T (p.Pro81Leu) rs771921468 0.00004
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) rs1424013094 0.00004
NM_000218.3(KCNQ1):c.583C>T (p.Arg195Trp) rs150172393 0.00004
NM_000229.2(LCAT):c.1192G>A (p.Gly398Arg) rs772313264 0.00004
NM_000235.4(LIPA):c.807G>C (p.Glu269Asp) rs746973509 0.00004
NM_000237.3(LPL):c.958G>T (p.Val320Phe) rs767970819 0.00004
NM_000238.4(KCNH2):c.115T>C (p.Cys39Arg) rs757491162 0.00004
NM_000238.4(KCNH2):c.1181G>A (p.Arg394His) rs781140785 0.00004
NM_000238.4(KCNH2):c.1307C>T (p.Thr436Met) rs199472901 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000238.4(KCNH2):c.2793G>A (p.Pro931=) rs200976506 0.00004
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys) rs141401803 0.00004
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000238.4(KCNH2):c.3109G>A (p.Asp1037Asn) rs199473023 0.00004
NM_000238.4(KCNH2):c.3229G>A (p.Ala1077Thr) rs201382073 0.00004
NM_000238.4(KCNH2):c.823A>C (p.Ser275Arg) rs1268162009 0.00004
NM_000256.3(MYBPC3):c.107C>A (p.Ala36Glu) rs376646845 0.00004
NM_000256.3(MYBPC3):c.118G>A (p.Val40Met) rs780085131 0.00004
NM_000256.3(MYBPC3):c.1256G>A (p.Arg419His) rs770030288 0.00004
NM_000256.3(MYBPC3):c.131G>A (p.Arg44His) rs369205562 0.00004
NM_000256.3(MYBPC3):c.1604T>C (p.Leu535Pro) rs730880548 0.00004
NM_000256.3(MYBPC3):c.2056G>C (p.Ala686Pro) rs367992212 0.00004
NM_000256.3(MYBPC3):c.2179G>A (p.Val727Met) rs564378953 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.2380C>A (p.Pro794Thr) rs1164995671 0.00004
NM_000256.3(MYBPC3):c.2552C>T (p.Ala851Val) rs774172488 0.00004
NM_000256.3(MYBPC3):c.2560A>G (p.Met854Val) rs373171036 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.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.3218G>A (p.Arg1073Gln) rs376598916 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.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.3125A>G (p.Lys1042Arg) rs991485633 0.00004
NM_000257.4(MYH7):c.3168G>C (p.Glu1056Asp) rs747198710 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.503-5C>T rs397516236 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.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_000258.3(MYL3):c.481+5G>A rs1005891266 0.00004
NM_000335.5(SCN5A):c.1153G>A (p.Ala385Thr) rs771588294 0.00004
NM_000335.5(SCN5A):c.1442G>A (p.Arg481Gln) rs142804667 0.00004
NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val) rs201641342 0.00004
NM_000335.5(SCN5A):c.1976G>A (p.Arg659Gln) rs374908012 0.00004
NM_000335.5(SCN5A):c.2002G>A (p.Val668Ile) rs768055977 0.00004
NM_000335.5(SCN5A):c.2597C>T (p.Ser866Leu) rs755194086 0.00004
NM_000335.5(SCN5A):c.2956C>T (p.Arg986Trp) rs561547165 0.00004
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln) rs763891399 0.00004
NM_000335.5(SCN5A):c.3204C>T (p.Gly1068=) rs1464663200 0.00004
NM_000335.5(SCN5A):c.355C>T (p.Pro119Ser) rs368058564 0.00004
NM_000335.5(SCN5A):c.4475A>G (p.Lys1492Arg) rs199473260 0.00004
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln) rs199473069 0.00004
NM_000335.5(SCN5A):c.5827C>T (p.Arg1943Ter) rs794728940 0.00004
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106 0.00004
NM_000335.5(SCN5A):c.5969G>A (p.Arg1990Gln) rs199473336 0.00004
NM_000335.5(SCN5A):c.6004G>A (p.Asp2002Asn) rs376697724 0.00004
NM_000335.5(SCN5A):c.6043G>A (p.Val2015Met) rs762981322 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_000371.4(TTR):c.361G>A (p.Gly121Ser) rs755337715 0.00004
NM_000371.4(TTR):c.386C>T (p.Ala129Val) rs121918092 0.00004
NM_000384.3(APOB):c.1033G>A (p.Ala345Thr) rs777330578 0.00004
NM_000384.3(APOB):c.1061A>G (p.Glu354Gly) rs149227065 0.00004
NM_000384.3(APOB):c.10982T>C (p.Ile3661Thr) rs377425803 0.00004
NM_000384.3(APOB):c.11509G>T (p.Ala3837Ser) rs1389480980 0.00004
NM_000384.3(APOB):c.11840G>A (p.Gly3947Glu) rs770531319 0.00004
NM_000384.3(APOB):c.12280G>A (p.Gly4094Arg) rs372357954 0.00004
NM_000384.3(APOB):c.12443C>A (p.Ala4148Asp) rs756476242 0.00004
NM_000384.3(APOB):c.12536C>T (p.Thr4179Ile) rs370180297 0.00004
NM_000384.3(APOB):c.1400C>G (p.Ala467Gly) rs376602710 0.00004
NM_000384.3(APOB):c.1472T>C (p.Val491Ala) rs996700659 0.00004
NM_000384.3(APOB):c.166T>C (p.Tyr56His) rs150496608 0.00004
NM_000384.3(APOB):c.1753C>A (p.Gln585Lys) rs140101603 0.00004
NM_000384.3(APOB):c.1910A>G (p.Tyr637Cys) rs766573431 0.00004
NM_000384.3(APOB):c.3220G>A (p.Gly1074Arg) rs72653074 0.00004
NM_000384.3(APOB):c.3656C>T (p.Thr1219Ile) rs768005049 0.00004
NM_000384.3(APOB):c.3904T>C (p.Phe1302Leu) rs201926213 0.00004
NM_000384.3(APOB):c.4250C>T (p.Thr1417Met) rs200321839 0.00004
NM_000384.3(APOB):c.4298C>T (p.Ser1433Leu) rs200708197 0.00004
NM_000384.3(APOB):c.4311C>G (p.Phe1437Leu) rs1801697 0.00004
NM_000384.3(APOB):c.5990A>G (p.Asp1997Gly) rs752203499 0.00004
NM_000384.3(APOB):c.6868G>A (p.Glu2290Lys) rs139857448 0.00004
NM_000384.3(APOB):c.6875T>C (p.Ile2292Thr) rs145977507 0.00004
NM_000384.3(APOB):c.721A>T (p.Ser241Cys) rs758838678 0.00004
NM_000384.3(APOB):c.7355G>C (p.Gly2452Ala) rs532531549 0.00004
NM_000384.3(APOB):c.8720G>A (p.Arg2907His) rs751437976 0.00004
NM_000384.3(APOB):c.9803C>T (p.Ser3268Leu) rs755753053 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 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_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.1078G>C (p.Asp360His) rs777926251 0.00004
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000527.5(LDLR):c.73G>A (p.Asp25Asn) rs562712652 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000719.7(CACNA1C):c.1487G>A (p.Arg496Gln) rs369255950 0.00004
NM_000719.7(CACNA1C):c.1555G>A (p.Ala519Thr) rs371702432 0.00004
NM_000719.7(CACNA1C):c.2327A>G (p.Lys776Arg) rs786205751 0.00004
NM_000719.7(CACNA1C):c.2429C>T (p.Thr810Met) rs772235214 0.00004
NM_000719.7(CACNA1C):c.2816T>C (p.Val939Ala) rs754495060 0.00004
NM_000719.7(CACNA1C):c.5120T>C (p.Val1707Ala) rs531161884 0.00004
NM_000719.7(CACNA1C):c.5320G>A (p.Ala1774Thr) rs767425352 0.00004
NM_000719.7(CACNA1C):c.5737G>A (p.Asp1913Asn) rs181502604 0.00004
NM_000719.7(CACNA1C):c.6022G>A (p.Ala2008Thr) rs765885227 0.00004
NM_000722.4(CACNA2D1):c.1141A>G (p.Lys381Glu) rs756707031 0.00004
NM_000722.4(CACNA2D1):c.1178A>G (p.Asn393Ser) rs149828018 0.00004
NM_000722.4(CACNA2D1):c.2324C>A (p.Ala775Asp) rs768768419 0.00004
NM_000722.4(CACNA2D1):c.2717C>T (p.Ser906Leu) rs1015793463 0.00004
NM_000722.4(CACNA2D1):c.3060A>G (p.Ile1020Met) rs748581194 0.00004
NM_000722.4(CACNA2D1):c.741A>T (p.Gly247=) rs372164615 0.00004
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser) rs778458082 0.00004
NM_000890.5(KCNJ5):c.554G>T (p.Cys185Phe) rs760375676 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val) rs150326473 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.1379-2020G>A rs1415117420 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.2090G>T (p.Gly697Val) rs143503798 0.00004
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln) rs397517020 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_001035.3(RYR2):c.10640C>T (p.Thr3547Met) rs552050895 0.00004
NM_001035.3(RYR2):c.11132T>A (p.Val3711Glu) rs1036775644 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.12837G>A (p.Met4279Ile) rs750117613 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.13249G>C (p.Glu4417Gln) rs903232857 0.00004
NM_001035.3(RYR2):c.147G>C (p.Leu49Phe) rs727504508 0.00004
NM_001035.3(RYR2):c.14875C>T (p.Arg4959Trp) rs755308070 0.00004
NM_001035.3(RYR2):c.1574C>G (p.Ser525Cys) rs776188922 0.00004
NM_001035.3(RYR2):c.1838T>C (p.Val613Ala) rs1057512489 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.3896T>C (p.Ile1299Thr) rs772551383 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.5588C>T (p.Thr1863Met) rs770863319 0.00004
NM_001035.3(RYR2):c.5593G>A (p.Glu1865Lys) rs553819263 0.00004
NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp) rs1006109370 0.00004
NM_001035.3(RYR2):c.5923A>G (p.Met1975Val) rs200318013 0.00004
NM_001035.3(RYR2):c.6299G>A (p.Arg2100Gln) rs796202631 0.00004
NM_001035.3(RYR2):c.7201C>T (p.Arg2401Cys) rs1321283106 0.00004
NM_001035.3(RYR2):c.7428T>C (p.Tyr2476=) rs770823825 0.00004
NM_001035.3(RYR2):c.7459C>A (p.Leu2487Ile) rs748581317 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_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_001037.5(SCN1B):c.268G>A (p.Val90Met) rs778461222 0.00004
NM_001040151.2(SCN3B):c.161T>G (p.Val54Gly) rs587777555 0.00004
NM_001040151.2(SCN3B):c.416G>A (p.Arg139Gln) rs770801747 0.00004
NM_001040151.2(SCN3B):c.98C>T (p.Thr33Met) rs140041927 0.00004
NM_001077653.2(TBX20):c.1112G>A (p.Ser371Asn) rs370394425 0.00004
NM_001077653.2(TBX20):c.350G>T (p.Gly117Val) rs138597530 0.00004
NM_001079802.2(FKTN):c.877G>C (p.Val293Leu) rs146900302 0.00004
NM_001103.4(ACTN2):c.1646A>T (p.Glu549Val) rs149794430 0.00004
NM_001103.4(ACTN2):c.1862G>A (p.Arg621His) rs368040932 0.00004
NM_001103.4(ACTN2):c.1899T>G (p.His633Gln) rs727505112 0.00004
NM_001103.4(ACTN2):c.2069A>G (p.Asn690Ser) rs552938924 0.00004
NM_001103.4(ACTN2):c.2552G>A (p.Arg851His) rs201335965 0.00004
NM_001103.4(ACTN2):c.2602G>A (p.Ala868Thr) rs143150260 0.00004
NM_001105206.3(LAMA4):c.1385G>A (p.Arg462Gln) rs781977997 0.00004
NM_001105206.3(LAMA4):c.1503T>A (p.Asp501Glu) rs370194991 0.00004
NM_001105206.3(LAMA4):c.1843G>A (p.Gly615Arg) rs377499201 0.00004
NM_001105206.3(LAMA4):c.2143G>T (p.Ala715Ser) rs140710429 0.00004
NM_001105206.3(LAMA4):c.2402C>T (p.Thr801Met) rs782325644 0.00004
NM_001105206.3(LAMA4):c.3518T>C (p.Ile1173Thr) rs373416378 0.00004
NM_001105206.3(LAMA4):c.3563T>G (p.Leu1188Arg) rs782291756 0.00004
NM_001105206.3(LAMA4):c.3921C>A (p.Tyr1307Ter) rs782630776 0.00004
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr) rs727503113 0.00004
NM_001105206.3(LAMA4):c.4287+4A>G rs782528136 0.00004
NM_001105206.3(LAMA4):c.5005A>G (p.Lys1669Glu) rs782716382 0.00004
NM_001105206.3(LAMA4):c.667C>T (p.Arg223Cys) rs372074151 0.00004
NM_001105206.3(LAMA4):c.838C>A (p.Leu280Met) rs369332778 0.00004
NM_001134363.3(RBM20):c.1186G>T (p.Ala396Ser) rs1160693970 0.00004
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn) rs748133931 0.00004
NM_001134363.3(RBM20):c.1553G>A (p.Arg518His) rs762725902 0.00004
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val) rs754805893 0.00004
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) rs191342808 0.00004
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly) rs561904103 0.00004
NM_001134363.3(RBM20):c.247C>A (p.Leu83Ile) rs536357058 0.00004
NM_001134363.3(RBM20):c.2518G>A (p.Asp840Asn) rs1029261119 0.00004
NM_001134363.3(RBM20):c.2688G>T (p.Glu896Asp) rs950962230 0.00004
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln) rs886046699 0.00004
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe) rs769531546 0.00004
NM_001134363.3(RBM20):c.3544C>T (p.Arg1182Cys) rs1171816793 0.00004
NM_001134363.3(RBM20):c.3649G>A (p.Gly1217Arg) rs867232627 0.00004
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg) rs541043583 0.00004
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys) rs779777625 0.00004
NM_001148.6(ANK2):c.11399A>C (p.Glu3800Ala) rs773222006 0.00004
NM_001148.6(ANK2):c.3623A>C (p.Lys1208Thr) rs375594801 0.00004
NM_001148.6(ANK2):c.4369A>G (p.Lys1457Glu) rs369038140 0.00004
NM_001148.6(ANK2):c.80A>C (p.Lys27Thr) rs769843073 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.100163G>A (p.Ser33388Asn) rs745406517 0.00004
NM_001267550.2(TTN):c.101236C>T (p.Arg33746Cys) rs199594729 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.103430T>C (p.Ile34477Thr) rs751914956 0.00004
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr) rs370618537 0.00004
NM_001267550.2(TTN):c.103658T>C (p.Ile34553Thr) rs727505196 0.00004
NM_001267550.2(TTN):c.104204C>T (p.Thr34735Met) rs755986938 0.00004
NM_001267550.2(TTN):c.106876T>G (p.Leu35626Val) rs373152640 0.00004
NM_001267550.2(TTN):c.11615G>T (p.Gly3872Val) rs751755895 0.00004
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met) rs201046911 0.00004
NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter) rs775072385 0.00004
NM_001267550.2(TTN):c.14119G>A (p.Glu4707Lys) rs749584249 0.00004
NM_001267550.2(TTN):c.14213G>A (p.Arg4738Gln) rs553541436 0.00004
NM_001267550.2(TTN):c.1421C>T (p.Thr474Ile) rs370824987 0.00004
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) rs34337578 0.00004
NM_001267550.2(TTN):c.1616T>A (p.Ile539Asn) rs774503024 0.00004
NM_001267550.2(TTN):c.2084T>C (p.Val695Ala) rs727503702 0.00004
NM_001267550.2(TTN):c.24454G>A (p.Val8152Ile) rs397517507 0.00004
NM_001267550.2(TTN):c.2494G>T (p.Ala832Ser) rs376133574 0.00004
NM_001267550.2(TTN):c.2854G>C (p.Val952Leu) rs373848402 0.00004
NM_001267550.2(TTN):c.3103T>G (p.Ser1035Ala) rs762133521 0.00004
NM_001267550.2(TTN):c.40558+1G>A rs368219776 0.00004
NM_001267550.2(TTN):c.41920G>A (p.Val13974Ile) rs373881831 0.00004
NM_001267550.2(TTN):c.42434T>C (p.Met14145Thr) rs794729427 0.00004
NM_001267550.2(TTN):c.42848G>A (p.Arg14283His) rs767899169 0.00004
NM_001267550.2(TTN):c.43045G>A (p.Gly14349Ser) rs781452930 0.00004
NM_001267550.2(TTN):c.44020G>A (p.Glu14674Lys) rs794729432 0.00004
NM_001267550.2(TTN):c.44113G>A (p.Ala14705Thr) rs751017081 0.00004
NM_001267550.2(TTN):c.45128G>A (p.Ser15043Asn) rs376144178 0.00004
NM_001267550.2(TTN):c.46037G>A (p.Arg15346His) rs367996763 0.00004
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn) rs370813526 0.00004
NM_001267550.2(TTN):c.46591G>A (p.Gly15531Arg) rs761815745 0.00004
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys) rs780334981 0.00004
NM_001267550.2(TTN):c.47278G>A (p.Gly15760Ser) rs372404266 0.00004
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His) rs397517593 0.00004
NM_001267550.2(TTN):c.48571A>G (p.Ile16191Val) rs747433688 0.00004
NM_001267550.2(TTN):c.51841T>C (p.Trp17281Arg) rs368846015 0.00004
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His) rs150737838 0.00004
NM_001267550.2(TTN):c.53060G>T (p.Gly17687Val) rs780672348 0.00004
NM_001267550.2(TTN):c.54115G>A (p.Asp18039Asn) rs765148928 0.00004
NM_001267550.2(TTN):c.54649A>G (p.Ser18217Gly) rs201001270 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.55915G>A (p.Val18639Met) rs727503596 0.00004
NM_001267550.2(TTN):c.56581G>A (p.Ala18861Thr) rs368419410 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_001267550.2(TTN):c.57956A>G (p.Tyr19319Cys) rs369082749 0.00004
NM_001267550.2(TTN):c.58470T>A (p.Asp19490Glu) rs374118468 0.00004
NM_001267550.2(TTN):c.58939G>A (p.Gly19647Arg) rs201430346 0.00004
NM_001267550.2(TTN):c.59033T>C (p.Ile19678Thr) rs746014701 0.00004
NM_001267550.2(TTN):c.61276C>T (p.Leu20426Phe) rs377529060 0.00004
NM_001267550.2(TTN):c.61588C>A (p.Pro20530Thr) rs755700079 0.00004
NM_001267550.2(TTN):c.62780G>A (p.Arg20927His) rs397517652 0.00004
NM_001267550.2(TTN):c.62816G>A (p.Arg20939His) rs777095470 0.00004
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys) rs374727686 0.00004
NM_001267550.2(TTN):c.63994C>A (p.Pro21332Thr) rs879031561 0.00004
NM_001267550.2(TTN):c.64681G>A (p.Gly21561Ser) rs200355808 0.00004
NM_001267550.2(TTN):c.65047C>A (p.Pro21683Thr) rs528707403 0.00004
NM_001267550.2(TTN):c.65590G>C (p.Asp21864His) rs375149365 0.00004
NM_001267550.2(TTN):c.65782C>T (p.Arg21928Trp) rs371856109 0.00004
NM_001267550.2(TTN):c.66568G>C (p.Gly22190Arg) rs757537780 0.00004
NM_001267550.2(TTN):c.67147G>A (p.Gly22383Arg) rs372388682 0.00004
NM_001267550.2(TTN):c.67882G>A (p.Val22628Ile) rs775731759 0.00004
NM_001267550.2(TTN):c.68599T>C (p.Tyr22867His) rs368484355 0.00004
NM_001267550.2(TTN):c.68887A>C (p.Thr22963Pro) rs771761816 0.00004
NM_001267550.2(TTN):c.70039G>C (p.Asp23347His) rs371752797 0.00004
NM_001267550.2(TTN):c.70831G>A (p.Ala23611Thr) rs373765469 0.00004
NM_001267550.2(TTN):c.71341G>A (p.Val23781Ile) rs146483596 0.00004
NM_001267550.2(TTN):c.71399G>A (p.Arg23800His) rs537705563 0.00004
NM_001267550.2(TTN):c.71774T>A (p.Ile23925Asn) rs374887185 0.00004
NM_001267550.2(TTN):c.7331-3C>T rs772008843 0.00004
NM_001267550.2(TTN):c.74225G>A (p.Arg24742His) rs761823581 0.00004
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala) rs200723435 0.00004
NM_001267550.2(TTN):c.74582C>T (p.Ala24861Val) rs149232991 0.00004
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile) rs370070176 0.00004
NM_001267550.2(TTN):c.75954G>T (p.Lys25318Asn) rs1001852514 0.00004
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) rs757343393 0.00004
NM_001267550.2(TTN):c.76051T>C (p.Trp25351Arg) rs201839118 0.00004
NM_001267550.2(TTN):c.7619G>A (p.Arg2540His) rs397517725 0.00004
NM_001267550.2(TTN):c.78383G>A (p.Arg26128His) rs757957389 0.00004
NM_001267550.2(TTN):c.79969G>T (p.Asp26657Tyr) rs781076407 0.00004
NM_001267550.2(TTN):c.80942G>A (p.Arg26981Gln) rs768308408 0.00004
NM_001267550.2(TTN):c.82474C>T (p.Arg27492Cys) rs767221784 0.00004
NM_001267550.2(TTN):c.83572G>A (p.Val27858Ile) rs778221988 0.00004
NM_001267550.2(TTN):c.86873G>A (p.Ser28958Asn) rs199639729 0.00004
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys) rs372360369 0.00004
NM_001267550.2(TTN):c.89309T>C (p.Val29770Ala) rs755018367 0.00004
NM_001267550.2(TTN):c.89491A>G (p.Lys29831Glu) rs774632104 0.00004
NM_001267550.2(TTN):c.89906T>C (p.Val29969Ala) rs201220828 0.00004
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys) rs200651247 0.00004
NM_001267550.2(TTN):c.91307G>A (p.Arg30436Gln) rs770081431 0.00004
NM_001267550.2(TTN):c.91883G>A (p.Arg30628Lys) rs780476250 0.00004
NM_001267550.2(TTN):c.93724C>T (p.Arg31242Cys) rs563887822 0.00004
NM_001267550.2(TTN):c.93968C>T (p.Ala31323Val) rs200345129 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.97973G>A (p.Arg32658Gln) rs769581585 0.00004
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly) rs377049518 0.00004
NM_001267550.2(TTN):c.98750C>T (p.Ser32917Phe) rs561932256 0.00004
NM_001267550.2(TTN):c.98759G>A (p.Arg32920Gln) rs752015224 0.00004
NM_001267550.2(TTN):c.99295G>C (p.Glu33099Gln) rs754827854 0.00004
NM_001267550.2(TTN):c.99521T>C (p.Ile33174Thr) rs879116103 0.00004
NM_001276345.2(TNNT2):c.10A>C (p.Ile4Leu) rs139705141 0.00004
NM_001276345.2(TNNT2):c.248A>G (p.Asn83Ser) rs397516450 0.00004
NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln) rs745632066 0.00004
NM_001276345.2(TNNT2):c.706G>A (p.Glu236Lys) rs730881107 0.00004
NM_001276345.2(TNNT2):c.779T>C (p.Leu260Pro) rs376037051 0.00004
NM_001308093.3(GATA4):c.30C>A (p.Asn10Lys) rs1274085631 0.00004
NM_001308093.3(GATA4):c.994C>T (p.Pro332Ser) rs768967856 0.00004
NM_001365276.2(TNXB):c.10258A>G (p.Arg3420Gly) rs199563047 0.00004
NM_001365276.2(TNXB):c.1871A>C (p.Asn624Thr) rs1042697787 0.00004
NM_001365276.2(TNXB):c.2980C>T (p.Arg994Cys) rs201292165 0.00004
NM_001365276.2(TNXB):c.5330G>A (p.Arg1777His) rs767799073 0.00004
NM_001365276.2(TNXB):c.5440G>A (p.Asp1814Asn) rs748731285 0.00004
NM_001365276.2(TNXB):c.6730G>A (p.Glu2244Lys) rs377071098 0.00004
NM_001365276.2(TNXB):c.7253C>T (p.Thr2418Ile) rs769498174 0.00004
NM_001365276.2(TNXB):c.7813G>A (p.Val2605Met) rs746237539 0.00004
NM_001365276.2(TNXB):c.788G>A (p.Arg263His) rs371229076 0.00004
NM_001365276.2(TNXB):c.9176T>A (p.Ile3059Asn) rs1376678138 0.00004
NM_001365276.2(TNXB):c.9725G>A (p.Arg3242His) rs374187712 0.00004
NM_001365276.2(TNXB):c.9727G>A (p.Val3243Met) rs770130227 0.00004
NM_001367624.2(ZNF469):c.11126G>A (p.Gly3709Glu) rs1024312183 0.00004
NM_001367624.2(ZNF469):c.11530C>T (p.Pro3844Ser) rs866162306 0.00004
NM_001367624.2(ZNF469):c.11566C>T (p.Arg3856Cys) rs762894872 0.00004
NM_001367624.2(ZNF469):c.1654G>A (p.Gly552Arg) rs769955501 0.00004
NM_001367624.2(ZNF469):c.2500A>G (p.Met834Val) rs1038974205 0.00004
NM_001367624.2(ZNF469):c.2534C>T (p.Thr845Ile) rs954465163 0.00004
NM_001367624.2(ZNF469):c.290C>T (p.Pro97Leu) rs273585617 0.00004
NM_001367624.2(ZNF469):c.3332T>C (p.Phe1111Ser) rs765069829 0.00004
NM_001367624.2(ZNF469):c.3672G>C (p.Glu1224Asp) rs757366332 0.00004
NM_001367624.2(ZNF469):c.4276G>A (p.Glu1426Lys) rs868174994 0.00004
NM_001367624.2(ZNF469):c.491C>T (p.Pro164Leu) rs755989926 0.00004
NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala) rs760014906 0.00004
NM_001367624.2(ZNF469):c.5825G>T (p.Gly1942Val) rs977906765 0.00004
NM_001367624.2(ZNF469):c.8179G>A (p.Asp2727Asn) rs1023194931 0.00004
NM_001367624.2(ZNF469):c.9960G>T (p.Glu3320Asp) rs958260291 0.00004
NM_001368067.1(LDB3):c.802C>T (p.Arg268Cys) rs121908335 0.00004
NM_001378454.1(ALMS1):c.10823G>A (p.Arg3608Gln) rs752052259 0.00004
NM_001378454.1(ALMS1):c.11032C>T (p.Arg3678Trp) rs766771102 0.00004
NM_001378454.1(ALMS1):c.11293A>G (p.Ile3765Val) rs758062371 0.00004
NM_001378454.1(ALMS1):c.11567C>T (p.Ser3856Phe) rs1414717577 0.00004
NM_001378454.1(ALMS1):c.11863T>G (p.Ser3955Ala) rs45528134 0.00004
NM_001378454.1(ALMS1):c.11888T>C (p.Val3963Ala) rs201777220 0.00004
NM_001378454.1(ALMS1):c.11893G>T (p.Val3965Leu) rs199683521 0.00004
NM_001378454.1(ALMS1):c.12173G>A (p.Arg4058His) rs61743400 0.00004
NM_001378454.1(ALMS1):c.12284C>T (p.Pro4095Leu) rs750502331 0.00004
NM_001378454.1(ALMS1):c.1339C>G (p.Pro447Ala) rs377283762 0.00004
NM_001378454.1(ALMS1):c.1400C>T (p.Thr467Ile) rs201990757 0.00004
NM_001378454.1(ALMS1):c.1420C>A (p.His474Asn) rs200454461 0.00004
NM_001378454.1(ALMS1):c.1886G>A (p.Gly629Asp) rs531859344 0.00004
NM_001378454.1(ALMS1):c.1971G>T (p.Gln657His) rs753296810 0.00004
NM_001378454.1(ALMS1):c.2269C>T (p.Pro757Ser) rs200827630 0.00004
NM_001378454.1(ALMS1):c.3319T>C (p.Tyr1107His) rs746162373 0.00004
NM_001378454.1(ALMS1):c.3464A>C (p.His1155Pro) rs553406974 0.00004
NM_001378454.1(ALMS1):c.4324G>T (p.Val1442Phe) rs375842278 0.00004
NM_001378454.1(ALMS1):c.4448T>C (p.Ile1483Thr) rs370271775 0.00004
NM_001378454.1(ALMS1):c.536C>T (p.Thr179Met) rs768531502 0.00004
NM_001378454.1(ALMS1):c.5444C>T (p.Ser1815Phe) rs528863432 0.00004
NM_001378454.1(ALMS1):c.6815T>C (p.Met2272Thr) rs1330734793 0.00004
NM_001378454.1(ALMS1):c.6853C>T (p.Arg2285Cys) rs375458331 0.00004
NM_001378454.1(ALMS1):c.6926C>T (p.Thr2309Met) rs147001219 0.00004
NM_001378454.1(ALMS1):c.7276T>G (p.Cys2426Gly) rs549778430 0.00004
NM_001378454.1(ALMS1):c.7441G>A (p.Ala2481Thr) rs760068474 0.00004
NM_001378454.1(ALMS1):c.7445A>G (p.His2482Arg) rs199698329 0.00004
NM_001378454.1(ALMS1):c.7525C>T (p.Arg2509Trp) rs34183407 0.00004
NM_001378454.1(ALMS1):c.7577G>A (p.Gly2526Glu) rs201654702 0.00004
NM_001378454.1(ALMS1):c.7812C>G (p.Phe2604Leu) rs201739856 0.00004
NM_001378454.1(ALMS1):c.7816T>C (p.Ser2606Pro) rs532551687 0.00004
NM_001378454.1(ALMS1):c.8035T>G (p.Trp2679Gly) rs1403694361 0.00004
NM_001378454.1(ALMS1):c.8711A>C (p.His2904Pro) rs370508584 0.00004
NM_001378454.1(ALMS1):c.8780G>A (p.Arg2927Gln) rs778162209 0.00004
NM_001378454.1(ALMS1):c.9173A>G (p.Lys3058Arg) rs149329669 0.00004
NM_001378454.1(ALMS1):c.9263A>G (p.His3088Arg) rs376083621 0.00004
NM_001378454.1(ALMS1):c.9386A>C (p.Gln3129Pro) rs372015288 0.00004
NM_001378454.1(ALMS1):c.955A>G (p.Asn319Asp) rs376892136 0.00004
NM_001378454.1(ALMS1):c.9713G>A (p.Arg3238His) rs1176919572 0.00004
NM_001378454.1(ALMS1):c.9866C>T (p.Pro3289Leu) rs369660958 0.00004
NM_001378969.1(KCND3):c.626C>T (p.Thr209Met) rs771878661 0.00004
NM_001379200.1(TBX1):c.1127G>A (p.Arg376Gln) rs548714133 0.00004
NM_001458.5(FLNC):c.1082G>A (p.Arg361His) rs752888774 0.00004
NM_001458.5(FLNC):c.1225G>A (p.Asp409Asn) rs371913931 0.00004
NM_001458.5(FLNC):c.1228G>C (p.Val410Leu) rs993836469 0.00004
NM_001458.5(FLNC):c.1243G>A (p.Val415Met) rs369182765 0.00004
NM_001458.5(FLNC):c.1261C>T (p.Arg421Trp) rs759075520 0.00004
NM_001458.5(FLNC):c.140A>G (p.Asn47Ser) rs770861991 0.00004
NM_001458.5(FLNC):c.1802T>C (p.Val601Ala) rs763590899 0.00004
NM_001458.5(FLNC):c.2075T>C (p.Ile692Thr) rs538863259 0.00004
NM_001458.5(FLNC):c.2164G>A (p.Gly722Ser) rs762248114 0.00004
NM_001458.5(FLNC):c.2737G>A (p.Glu913Lys) rs774707336 0.00004
NM_001458.5(FLNC):c.2842G>A (p.Gly948Arg) rs768103657 0.00004
NM_001458.5(FLNC):c.3004C>T (p.Arg1002Trp) rs555764780 0.00004
NM_001458.5(FLNC):c.3133C>A (p.His1045Asn) rs201863231 0.00004
NM_001458.5(FLNC):c.318C>G (p.Phe106Leu) rs886037829 0.00004
NM_001458.5(FLNC):c.3680C>T (p.Thr1227Ile) rs373573447 0.00004
NM_001458.5(FLNC):c.3722G>A (p.Arg1241His) rs370520806 0.00004
NM_001458.5(FLNC):c.3949A>G (p.Thr1317Ala) rs377555574 0.00004
NM_001458.5(FLNC):c.4003G>A (p.Val1335Met) rs368220468 0.00004
NM_001458.5(FLNC):c.4556A>G (p.Tyr1519Cys) rs1012086057 0.00004
NM_001458.5(FLNC):c.4660A>C (p.Ile1554Leu) rs754224673 0.00004
NM_001458.5(FLNC):c.4771C>T (p.Arg1591Trp) rs576453637 0.00004
NM_001458.5(FLNC):c.4880G>A (p.Arg1627His) rs751592993 0.00004
NM_001458.5(FLNC):c.5477A>G (p.Tyr1826Cys) rs756197388 0.00004
NM_001458.5(FLNC):c.6048C>T (p.Ser2016=) rs369991887 0.00004
NM_001458.5(FLNC):c.6977G>A (p.Arg2326Gln) rs201028676 0.00004
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His) rs558239439 0.00004
NM_001458.5(FLNC):c.7618G>C (p.Val2540Leu) rs746349463 0.00004
NM_001458.5(FLNC):c.81C>A (p.Asp27Glu) rs1318316375 0.00004
NM_001458.5(FLNC):c.925G>A (p.Glu309Lys) rs781212262 0.00004
NM_001711.6(BGN):c.181G>A (p.Ala61Thr) rs782672273 0.00004
NM_001743.6(CALM2):c.285+5G>A rs760654198 0.00004
NM_001927.4(DES):c.109C>T (p.Arg37Trp) rs537881554 0.00004
NM_001927.4(DES):c.1158C>T (p.Arg386=) rs774323736 0.00004
NM_001927.4(DES):c.1243C>T (p.Arg415Trp) rs751942358 0.00004
NM_001927.4(DES):c.268G>C (p.Asp90His) rs1267102255 0.00004
NM_001927.4(DES):c.662C>T (p.Ala221Val) rs746814065 0.00004
NM_001927.4(DES):c.937G>A (p.Ala313Thr) rs766252091 0.00004
NM_001943.5(DSG2):c.-1G>C rs1012160082 0.00004
NM_001943.5(DSG2):c.1885C>T (p.Pro629Ser) rs200804638 0.00004
NM_001943.5(DSG2):c.1903T>C (p.Cys635Arg) rs940804506 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.2702A>G (p.Lys901Arg) rs886039190 0.00004
NM_001943.5(DSG2):c.3129T>G (p.Asn1043Lys) rs727502992 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.1219G>A (p.Val407Ile) rs370913228 0.00004
NM_002230.4(JUP):c.1486C>A (p.Pro496Thr) rs1220042864 0.00004
NM_002230.4(JUP):c.161C>T (p.Thr54Met) rs782529328 0.00004
NM_002230.4(JUP):c.2104C>T (p.Arg702Cys) rs545547083 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_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_002294.3(LAMP2):c.1091C>T (p.Thr364Ile) rs183781327 0.00004
NM_002294.3(LAMP2):c.1137A>G (p.Ile379Met) rs730880126 0.00004
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu) rs769378984 0.00004
NM_002317.7(LOX):c.1222T>C (p.Tyr408His) rs765126342 0.00004
NM_002317.7(LOX):c.493G>C (p.Gly165Arg) rs749364042 0.00004
NM_002471.4(MYH6):c.1639A>G (p.Met547Val) rs760722098 0.00004
NM_002471.4(MYH6):c.2353C>T (p.Arg785Cys) rs543524943 0.00004
NM_002471.4(MYH6):c.2384G>A (p.Arg795Gln) rs267606907 0.00004
NM_002471.4(MYH6):c.2612G>A (p.Arg871His) rs869025473 0.00004
NM_002471.4(MYH6):c.268A>G (p.Met90Val) rs778199745 0.00004
NM_002471.4(MYH6):c.2929G>C (p.Val977Leu) rs141079114 0.00004
NM_002471.4(MYH6):c.2965G>A (p.Glu989Lys) rs369774403 0.00004
NM_002471.4(MYH6):c.3124C>A (p.Gln1042Lys) rs756244326 0.00004
NM_002471.4(MYH6):c.3287T>C (p.Ile1096Thr) rs762901493 0.00004
NM_002471.4(MYH6):c.3413G>A (p.Arg1138His) rs745801044 0.00004
NM_002471.4(MYH6):c.3476C>T (p.Thr1159Met) rs780305056 0.00004
NM_002471.4(MYH6):c.3569C>T (p.Thr1190Ile) rs759117852 0.00004
NM_002471.4(MYH6):c.3618C>T (p.Gly1206=) rs765103086 0.00004
NM_002471.4(MYH6):c.4082G>A (p.Arg1361His) rs533942127 0.00004
NM_002471.4(MYH6):c.4684C>T (p.Arg1562Trp) rs756237624 0.00004
NM_002471.4(MYH6):c.4822C>T (p.Arg1608Cys) rs201683868 0.00004
NM_002471.4(MYH6):c.4993G>A (p.Ala1665Thr) rs374271404 0.00004
NM_002471.4(MYH6):c.5196G>A (p.Met1732Ile) rs1028831815 0.00004
NM_002471.4(MYH6):c.5513C>T (p.Ser1838Leu) rs747673552 0.00004
NM_002471.4(MYH6):c.5594G>A (p.Arg1865Gln) rs138720701 0.00004
NM_002471.4(MYH6):c.5735C>T (p.Ala1912Val) rs373076710 0.00004
NM_002471.4(MYH6):c.928G>A (p.Asp310Asn) rs374692396 0.00004
NM_002471.4(MYH6):c.982G>A (p.Glu328Lys) rs144422878 0.00004
NM_002667.5(PLN):c.145G>A (p.Val49Met) rs749962743 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_002880.4(RAF1):c.1663G>C (p.Asp555His) rs371704292 0.00004
NM_002880.4(RAF1):c.1913C>T (p.Thr638Met) rs730881007 0.00004
NM_002890.3(RASA1):c.1373A>C (p.Glu458Ala) rs772447424 0.00004
NM_002890.3(RASA1):c.370C>T (p.Leu124Phe) rs200883284 0.00004
NM_003098.3(SNTA1):c.1180C>T (p.Arg394Cys) rs567451585 0.00004
NM_003098.3(SNTA1):c.388T>C (p.Phe130Leu) rs199964677 0.00004
NM_003098.3(SNTA1):c.452C>T (p.Ala151Val) rs772936861 0.00004
NM_003098.3(SNTA1):c.556G>A (p.Gly186Ser) rs200755101 0.00004
NM_003098.3(SNTA1):c.992G>A (p.Arg331His) rs575431717 0.00004
NM_003476.5(CSRP3):c.230C>G (p.Ala77Gly) rs772138289 0.00004
NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys) rs201214593 0.00004
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) rs193922667 0.00004
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys) rs376198883 0.00004
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) rs142019584 0.00004
NM_003673.4(TCAP):c.460C>T (p.Arg154Cys) rs755539784 0.00004
NM_003803.4(MYOM1):c.3244G>A (p.Ala1082Thr) rs968079688 0.00004
NM_004006.3(DMD):c.10592A>G (p.His3531Arg) rs886043324 0.00004
NM_004006.3(DMD):c.1159A>G (p.Met387Val) rs770202940 0.00004
NM_004006.3(DMD):c.1309G>C (p.Ala437Pro) rs748964279 0.00004
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser) rs755456119 0.00004
NM_004006.3(DMD):c.1924G>A (p.Ala642Thr) rs779138399 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_004006.3(DMD):c.2346A>T (p.Arg782Ser) rs150692967 0.00004
NM_004006.3(DMD):c.4397A>G (p.Asn1466Ser) rs910214749 0.00004
NM_004006.3(DMD):c.4467A>C (p.Glu1489Asp) rs373162382 0.00004
NM_004006.3(DMD):c.6049C>A (p.Leu2017Ile) rs201532491 0.00004
NM_004006.3(DMD):c.8926G>A (p.Glu2976Lys) rs142128738 0.00004
NM_004006.3(DMD):c.9094G>A (p.Glu3032Lys) rs72466562 0.00004
NM_004100.5(EYA4):c.1223G>A (p.Arg408His) rs760787542 0.00004
NM_004100.5(EYA4):c.263C>G (p.Pro88Arg) rs727503050 0.00004
NM_004100.5(EYA4):c.529G>A (p.Val177Ile) rs776409783 0.00004
NM_004281.4(BAG3):c.1157C>A (p.Ser386Tyr) rs756178548 0.00004
NM_004281.4(BAG3):c.1291A>G (p.Lys431Glu) rs1374652846 0.00004
NM_004281.4(BAG3):c.1625C>T (p.Ala542Val) rs770920565 0.00004
NM_004281.4(BAG3):c.191C>T (p.Ser64Phe) rs780615753 0.00004
NM_004281.4(BAG3):c.316C>T (p.Arg106Trp) rs767341152 0.00004
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp) rs397514506 0.00004
NM_004281.4(BAG3):c.679C>G (p.Gln227Glu) rs149517238 0.00004
NM_004281.4(BAG3):c.743A>G (p.His248Arg) rs369947845 0.00004
NM_004281.4(BAG3):c.968G>A (p.Ser323Asn) rs754387872 0.00004
NM_004387.4(NKX2-5):c.188C>T (p.Ala63Val) rs530270916 0.00004
NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val) rs984722259 0.00004
NM_004387.4(NKX2-5):c.673C>T (p.Arg225Cys) rs866974584 0.00004
NM_004387.4(NKX2-5):c.753C>G (p.Asn251Lys) rs765528024 0.00004
NM_004387.4(NKX2-5):c.82G>A (p.Ala28Thr) rs1279595214 0.00004
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) rs375086983 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.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.2631-5C>T rs773772683 0.00004
NM_004415.4(DSP):c.2866A>T (p.Asn956Tyr) rs397516928 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.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.5194G>A (p.Asp1732Asn) rs780224658 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.5839T>C (p.Tyr1947His) rs767259019 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.6595C>T (p.Leu2199Phe) rs549451471 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.8209G>C (p.Val2737Leu) rs149123428 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_004415.4(DSP):c.939C>T (p.Ser313=) rs766580649 0.00004
NM_004517.4(ILK):c.503T>G (p.Phe168Cys) rs747974626 0.00004
NM_004517.4(ILK):c.521G>A (p.Arg174His) rs192233749 0.00004
NM_004588.5(SCN2B):c.461G>A (p.Arg154Gln) rs753389706 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_005188.4(CBL):c.195+3G>A rs762062705 0.00004
NM_005188.4(CBL):c.2083G>A (p.Glu695Lys) rs143975631 0.00004
NM_005188.4(CBL):c.2614C>A (p.Gln872Lys) rs746795014 0.00004
NM_005472.5(KCNE3):c.2T>C (p.Met1Thr) rs765329541 0.00004
NM_005477.3(HCN4):c.2196C>T (p.Gly732=) rs780923169 0.00004
NM_005477.3(HCN4):c.2197G>A (p.Val733Ile) rs376631391 0.00004
NM_005477.3(HCN4):c.2266G>A (p.Ala756Thr) rs143339036 0.00004
NM_005477.3(HCN4):c.2383C>T (p.Leu795Phe) rs1435000428 0.00004
NM_005477.3(HCN4):c.2398C>T (p.Arg800Cys) rs181894662 0.00004
NM_005477.3(HCN4):c.2845C>T (p.Arg949Trp) rs755614529 0.00004
NM_005477.3(HCN4):c.2938G>A (p.Gly980Arg) rs780719805 0.00004
NM_005477.3(HCN4):c.2995C>T (p.Arg999Trp) rs538668505 0.00004
NM_005477.3(HCN4):c.3202C>T (p.Arg1068Cys) rs759356193 0.00004
NM_005477.3(HCN4):c.3209G>A (p.Gly1070Asp) rs772839442 0.00004
NM_005477.3(HCN4):c.3263C>T (p.Ala1088Val) rs758484576 0.00004
NM_005477.3(HCN4):c.3409C>T (p.Pro1137Ser) rs773914774 0.00004
NM_005477.3(HCN4):c.3414del (p.Arg1140fs) rs746402732 0.00004
NM_005477.3(HCN4):c.3596T>A (p.Leu1199Gln) rs146751122 0.00004
NM_005477.3(HCN4):c.394A>C (p.Ile132Leu) rs772764704 0.00004
NM_005477.3(HCN4):c.497C>T (p.Pro166Leu) rs771442346 0.00004
NM_005502.4(ABCA1):c.4249C>T (p.Arg1417Cys) rs749089795 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1720G>A (p.Val574Ile) rs727504641 0.00004
NM_005633.4(SOS1):c.1859-3T>C rs199727062 0.00004
NM_005633.4(SOS1):c.2953T>G (p.Ser985Ala) rs754676663 0.00004
NM_005633.4(SOS1):c.3392G>A (p.Arg1131Lys) rs768113420 0.00004
NM_005633.4(SOS1):c.3737A>G (p.Asn1246Ser) rs374110460 0.00004
NM_005633.4(SOS1):c.382G>A (p.Val128Ile) rs752402979 0.00004
NM_005633.4(SOS1):c.3857C>T (p.Ser1286Phe) rs374341202 0.00004
NM_005633.4(SOS1):c.3859A>G (p.Ile1287Val) rs760917490 0.00004
NM_005751.5(AKAP9):c.10027G>A (p.Asp3343Asn) rs757454990 0.00004
NM_005751.5(AKAP9):c.10738T>A (p.Ser3580Thr) rs767035977 0.00004
NM_005751.5(AKAP9):c.10880G>A (p.Gly3627Glu) rs753656531 0.00004
NM_005751.5(AKAP9):c.10940T>C (p.Ile3647Thr) rs756215009 0.00004
NM_005751.5(AKAP9):c.11240C>T (p.Pro3747Leu) rs373321787 0.00004
NM_005751.5(AKAP9):c.11270A>G (p.Asn3757Ser) rs571076507 0.00004
NM_005751.5(AKAP9):c.1538A>G (p.Lys513Arg) rs786205713 0.00004
NM_005751.5(AKAP9):c.2113T>G (p.Leu705Val) rs750905383 0.00004
NM_005751.5(AKAP9):c.2575G>A (p.Val859Ile) rs751606673 0.00004
NM_005751.5(AKAP9):c.2951A>G (p.Lys984Arg) rs765992335 0.00004
NM_005751.5(AKAP9):c.4136C>T (p.Thr1379Met) rs767728528 0.00004
NM_005751.5(AKAP9):c.4195A>G (p.Thr1399Ala) rs757261572 0.00004
NM_005751.5(AKAP9):c.4282A>G (p.Ile1428Val) rs368183690 0.00004
NM_005751.5(AKAP9):c.5684G>A (p.Cys1895Tyr) rs376670169 0.00004
NM_005751.5(AKAP9):c.5752A>C (p.Ser1918Arg) rs1000673132 0.00004
NM_005751.5(AKAP9):c.6806A>T (p.Asp2269Val) rs765553799 0.00004
NM_005751.5(AKAP9):c.7675A>C (p.Ile2559Leu) rs757278868 0.00004
NM_005751.5(AKAP9):c.9094C>G (p.Gln3032Glu) rs779260877 0.00004
NM_005751.5(AKAP9):c.9115A>G (p.Ser3039Gly) rs772348877 0.00004
NM_005751.5(AKAP9):c.9446A>G (p.Glu3149Gly) rs150579291 0.00004
NM_005751.5(AKAP9):c.9664T>G (p.Trp3222Gly) rs765533928 0.00004
NM_005911.6(MAT2A):c.1027A>G (p.Arg343Gly) rs750105786 0.00004
NM_005911.6(MAT2A):c.988A>G (p.Ile330Val) rs753175779 0.00004
NM_006073.4(TRDN):c.1156C>A (p.Pro386Thr) rs555383967 0.00004
NM_006073.4(TRDN):c.1568-4T>A rs764779610 0.00004
NM_006073.4(TRDN):c.1589C>G (p.Ala530Gly) rs367716594 0.00004
NM_006073.4(TRDN):c.1967G>A (p.Arg656Lys) rs1028703114 0.00004
NM_006073.4(TRDN):c.2131C>T (p.Arg711Cys) rs373408498 0.00004
NM_006073.4(TRDN):c.2132G>A (p.Arg711His) rs763375903 0.00004
NM_006073.4(TRDN):c.2135C>T (p.Pro712Leu) rs761888858 0.00004
NM_006073.4(TRDN):c.2138G>A (p.Gly713Glu) rs536487170 0.00004
NM_006073.4(TRDN):c.2179C>T (p.Gln727Ter) rs201041981 0.00004
NM_006073.4(TRDN):c.352G>T (p.Asp118Tyr) rs762075230 0.00004
NM_006073.4(TRDN):c.376G>A (p.Glu126Lys) rs539743603 0.00004
NM_006440.5(TXNRD2):c.1001C>T (p.Thr334Ile) rs780014083 0.00004
NM_006440.5(TXNRD2):c.1054C>A (p.Pro352Thr) rs1388529732 0.00004
NM_006440.5(TXNRD2):c.1376T>C (p.Leu459Pro) rs776104767 0.00004
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg) rs759298418 0.00004
NM_006440.5(TXNRD2):c.1406A>G (p.Asn469Ser) rs757704344 0.00004
NM_006440.5(TXNRD2):c.1436T>C (p.Leu479Pro) rs756559860 0.00004
NM_006440.5(TXNRD2):c.1514T>A (p.Val505Asp) rs759613137 0.00004
NM_006440.5(TXNRD2):c.40C>T (p.Arg14Cys) rs1259706318 0.00004
NM_006440.5(TXNRD2):c.449+4C>T rs755751835 0.00004
NM_006440.5(TXNRD2):c.461A>T (p.Tyr154Phe) rs886509891 0.00004
NM_006440.5(TXNRD2):c.581A>G (p.Tyr194Cys) rs1219814151 0.00004
NM_006440.5(TXNRD2):c.595G>A (p.Glu199Lys) rs763888077 0.00004
NM_006514.4(SCN10A):c.1051C>T (p.Arg351Cys) rs370603046 0.00004
NM_006514.4(SCN10A):c.1093-3C>A rs373289770 0.00004
NM_006514.4(SCN10A):c.1747G>A (p.Asp583Asn) rs910976049 0.00004
NM_006514.4(SCN10A):c.2156T>C (p.Phe719Ser) rs758843257 0.00004
NM_006514.4(SCN10A):c.2414G>T (p.Gly805Val) rs779733116 0.00004
NM_006514.4(SCN10A):c.2427del (p.Glu811fs) rs751810656 0.00004
NM_006514.4(SCN10A):c.2530C>T (p.Arg844Cys) rs140158387 0.00004
NM_006514.4(SCN10A):c.3178T>G (p.Ser1060Ala) rs750655728 0.00004
NM_006514.4(SCN10A):c.4069T>A (p.Tyr1357Asn) rs199703203 0.00004
NM_006514.4(SCN10A):c.4444A>G (p.Ile1482Val) rs771215180 0.00004
NM_006514.4(SCN10A):c.4585G>A (p.Ala1529Thr) rs757916036 0.00004
NM_006514.4(SCN10A):c.4726C>T (p.Arg1576Cys) rs764476034 0.00004
NM_006514.4(SCN10A):c.4780C>T (p.Arg1594Cys) rs373347787 0.00004
NM_006514.4(SCN10A):c.5294C>T (p.Ser1765Leu) rs369137515 0.00004
NM_006514.4(SCN10A):c.5539C>T (p.Arg1847Ter) rs199503439 0.00004
NM_006514.4(SCN10A):c.626G>A (p.Arg209His) rs779184623 0.00004
NM_006514.4(SCN10A):c.688C>G (p.Pro230Ala) rs147844607 0.00004
NM_006912.6(RIT1):c.341T>A (p.Phe114Tyr) rs745807905 0.00004
NM_006912.6(RIT1):c.635G>A (p.Arg212Gln) rs764347644 0.00004
NM_006939.4(SOS2):c.1976T>C (p.Leu659Ser) rs1391029692 0.00004
NM_006939.4(SOS2):c.257C>T (p.Ala86Val) rs146272145 0.00004
NM_006939.4(SOS2):c.2969A>G (p.Glu990Gly) rs761320331 0.00004
NM_006939.4(SOS2):c.3076C>T (p.Pro1026Ser) rs201874067 0.00004
NM_006939.4(SOS2):c.3335G>A (p.Cys1112Tyr) rs756103351 0.00004
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr) rs935249167 0.00004
NM_006939.4(SOS2):c.3902A>G (p.His1301Arg) rs759124324 0.00004
NM_006939.4(SOS2):c.532C>G (p.Gln178Glu) rs770603835 0.00004
NM_007078.3(LDB3):c.1225C>A (p.Gln409Lys) rs139104492 0.00004
NM_007078.3(LDB3):c.1667A>G (p.Asn556Ser) rs372583830 0.00004
NM_007078.3(LDB3):c.1972G>A (p.Glu658Lys) rs760563152 0.00004
NM_007078.3(LDB3):c.2174T>A (p.Ile725Asn) rs748399477 0.00004
NM_007078.3(LDB3):c.451G>A (p.Ala151Thr) rs780578350 0.00004
NM_007078.3(LDB3):c.764A>G (p.Lys255Arg) rs199739130 0.00004
NM_007078.3(LDB3):c.784G>A (p.Glu262Lys) rs374168618 0.00004
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu) rs371649487 0.00004
NM_007373.4(SHOC2):c.1318C>A (p.Leu440Ile) rs759910472 0.00004
NM_012186.3(FOXE3):c.287C>G (p.Ala96Gly) rs768651099 0.00004
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser) rs745571457 0.00004
NM_012186.3(FOXE3):c.404A>G (p.Glu135Gly) rs372281087 0.00004
NM_012186.3(FOXE3):c.61G>A (p.Ala21Thr) rs886379083 0.00004
NM_012186.3(FOXE3):c.703C>T (p.Pro235Ser) rs112802909 0.00004
NM_012186.3(FOXE3):c.736G>A (p.Ala246Thr) rs921860618 0.00004
NM_014000.3(VCL):c.1176+4G>C rs1286302808 0.00004
NM_014000.3(VCL):c.1192C>T (p.Pro398Ser) rs201528612 0.00004
NM_014000.3(VCL):c.1390A>G (p.Lys464Glu) rs200710859 0.00004
NM_014000.3(VCL):c.1505G>A (p.Arg502Gln) rs201808867 0.00004
NM_014000.3(VCL):c.1511T>C (p.Ile504Thr) rs745343813 0.00004
NM_014000.3(VCL):c.1534C>T (p.Arg512Cys) rs781079975 0.00004
NM_014000.3(VCL):c.185T>C (p.Val62Ala) rs769799445 0.00004
NM_014000.3(VCL):c.1928C>T (p.Thr643Met) rs150643310 0.00004
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe) rs565398652 0.00004
NM_014000.3(VCL):c.2399A>T (p.Asp800Val) rs919509789 0.00004
NM_014000.3(VCL):c.2887A>G (p.Asn963Asp) rs777702397 0.00004
NM_014000.3(VCL):c.32G>A (p.Ser11Asn) rs777811020 0.00004
NM_014000.3(VCL):c.3373C>T (p.Arg1125Cys) rs373317423 0.00004
NM_014000.3(VCL):c.788C>G (p.Thr263Ser) rs150443513 0.00004
NM_014391.3(ANKRD1):c.364C>G (p.Pro122Ala) rs756392442 0.00004
NM_014391.3(ANKRD1):c.821A>G (p.Tyr274Cys) rs374486076 0.00004
NM_014391.3(ANKRD1):c.881A>G (p.His294Arg) rs754657888 0.00004
NM_014908.4(DOLK):c.1165C>T (p.Arg389Trp) rs758129067 0.00004
NM_014908.4(DOLK):c.1283A>C (p.Gln428Pro) rs189623590 0.00004
NM_014908.4(DOLK):c.1568T>C (p.Ile523Thr) rs774524497 0.00004
NM_015627.3(LDLRAP1):c.113C>T (p.Thr38Met) rs142139501 0.00004
NM_015627.3(LDLRAP1):c.452G>A (p.Arg151Gln) rs764804901 0.00004
NM_016203.4(PRKAG2):c.1703C>T (p.Thr568Met) rs540525001 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.590C>T (p.Pro197Leu) rs368637364 0.00004
NM_016599.5(MYOZ2):c.403C>A (p.Pro135Thr) rs144720577 0.00004
NM_016599.5(MYOZ2):c.674C>T (p.Pro225Leu) rs200428820 0.00004
NM_016938.5(EFEMP2):c.1279C>T (p.Arg427Trp) rs1056545955 0.00004
NM_016938.5(EFEMP2):c.280G>A (p.Glu94Lys) rs370848091 0.00004
NM_017636.4(TRPM4):c.1150+1G>A rs200132598 0.00004
NM_017636.4(TRPM4):c.1263+1G>A rs1321828986 0.00004
NM_017636.4(TRPM4):c.1308C>A (p.Asp436Glu) rs200262546 0.00004
NM_017636.4(TRPM4):c.1603G>A (p.Glu535Lys) rs748187859 0.00004
NM_017636.4(TRPM4):c.1775C>T (p.Ala592Val) rs777586166 0.00004
NM_017636.4(TRPM4):c.2086G>A (p.Ala696Thr) rs371404627 0.00004
NM_017636.4(TRPM4):c.3184C>G (p.Arg1062Gly) rs375523320 0.00004
NM_017636.4(TRPM4):c.323G>A (p.Arg108His) rs371414435 0.00004
NM_017636.4(TRPM4):c.3367A>C (p.Thr1123Pro) rs144912849 0.00004
NM_017636.4(TRPM4):c.491G>A (p.Arg164Gln) rs774677078 0.00004
NM_017636.4(TRPM4):c.721G>A (p.Gly241Ser) rs886054577 0.00004
NM_017636.4(TRPM4):c.965G>A (p.Gly322Glu) rs865856899 0.00004
NM_018699.4(PRDM5):c.1043A>G (p.Tyr348Cys) rs750825490 0.00004
NM_018699.4(PRDM5):c.154A>G (p.Met52Val) rs766857802 0.00004
NM_020297.4(ABCC9):c.1849G>A (p.Asp617Asn) rs757681761 0.00004
NM_020297.4(ABCC9):c.2500T>C (p.Phe834Leu) rs367776754 0.00004
NM_020297.4(ABCC9):c.256G>C (p.Glu86Gln) rs774026262 0.00004
NM_020297.4(ABCC9):c.287G>A (p.Arg96Gln) rs202103893 0.00004
NM_020297.4(ABCC9):c.3061G>A (p.Glu1021Lys) rs749668601 0.00004
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys) rs778849288 0.00004
NM_020297.4(ABCC9):c.4205C>G (p.Ser1402Cys) rs369587958 0.00004
NM_020297.4(ABCC9):c.970C>T (p.Arg324Cys) rs779720018 0.00004
NM_020433.5(JPH2):c.1149G>T (p.Lys383Asn) rs754243118 0.00004
NM_020433.5(JPH2):c.1202C>T (p.Ala401Val) rs774001072 0.00004
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter) rs199896820 0.00004
NM_020433.5(JPH2):c.1658C>T (p.Ala553Val) rs200422043 0.00004
NM_020433.5(JPH2):c.2062G>A (p.Ala688Thr) rs540933939 0.00004
NM_020433.5(JPH2):c.299C>T (p.Ser100Leu) rs145401873 0.00004
NM_020778.4(ALPK3):c.302G>A (p.Gly101Glu) rs774834870 0.00004
NM_020778.5(ALPK3):c.1000A>G (p.Lys334Glu) rs1273788350 0.00004
NM_020778.5(ALPK3):c.1304A>G (p.Gln435Arg) rs754238381 0.00004
NM_020778.5(ALPK3):c.1393C>A (p.Gln465Lys) rs771343949 0.00004
NM_020778.5(ALPK3):c.1588C>T (p.Arg530Trp) rs748152747 0.00004
NM_020778.5(ALPK3):c.1591C>T (p.Arg531Trp) rs747180813 0.00004
NM_020778.5(ALPK3):c.2444G>A (p.Gly815Glu) rs199907297 0.00004
NM_020778.5(ALPK3):c.245C>T (p.Thr82Met) rs369383271 0.00004
NM_020778.5(ALPK3):c.2642C>T (p.Ala881Val) rs375943296 0.00004
NM_020778.5(ALPK3):c.2849G>A (p.Arg950Gln) rs772259344 0.00004
NM_020778.5(ALPK3):c.3032C>T (p.Ser1011Leu) rs374420068 0.00004
NM_020778.5(ALPK3):c.3116G>A (p.Arg1039His) rs375717780 0.00004
NM_020778.5(ALPK3):c.322G>A (p.Val108Met) rs151295172 0.00004
NM_020778.5(ALPK3):c.344C>T (p.Thr115Met) rs140571556 0.00004
NM_020778.5(ALPK3):c.3632A>G (p.Glu1211Gly) rs565962039 0.00004
NM_020778.5(ALPK3):c.3701C>T (p.Ala1234Val) rs1009090950 0.00004
NM_020778.5(ALPK3):c.3892T>C (p.Phe1298Leu) rs200756406 0.00004
NM_020778.5(ALPK3):c.3899A>G (p.Asn1300Ser) rs115510864 0.00004
NM_020778.5(ALPK3):c.3952G>A (p.Glu1318Lys) rs142686791 0.00004
NM_020778.5(ALPK3):c.3983C>T (p.Pro1328Leu) rs371508067 0.00004
NM_020778.5(ALPK3):c.4040C>T (p.Thr1347Ile) rs772261260 0.00004
NM_020778.5(ALPK3):c.4061C>T (p.Ser1354Leu) rs377340628 0.00004
NM_020778.5(ALPK3):c.4092G>C (p.Glu1364Asp) rs778715401 0.00004
NM_020778.5(ALPK3):c.40G>T (p.Gly14Cys) rs1053607919 0.00004
NM_020778.5(ALPK3):c.4200C>G (p.Asp1400Glu) rs372818428 0.00004
NM_020778.5(ALPK3):c.4319G>A (p.Arg1440His) rs182140062 0.00004
NM_020778.5(ALPK3):c.4489G>A (p.Glu1497Lys) rs201240006 0.00004
NM_020778.5(ALPK3):c.4499+2dup rs753084997 0.00004
NM_020778.5(ALPK3):c.4913A>G (p.Lys1638Arg) rs749212010 0.00004
NM_020778.5(ALPK3):c.595A>G (p.Ser199Gly) rs780267653 0.00004
NM_020778.5(ALPK3):c.655G>A (p.Asp219Asn) rs148244525 0.00004
NM_021167.5(GATAD1):c.646A>T (p.Met216Leu) rs778197140 0.00004
NM_022436.3(ABCG5):c.39G>T (p.Met13Ile) rs572875739 0.00004
NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala) rs781732933 0.00004
NM_022437.3(ABCG8):c.1106A>T (p.Asp369Val) rs148185316 0.00004
NM_022437.3(ABCG8):c.786C>A (p.Asn262Lys) rs199737442 0.00004
NM_022773.4(LMF1):c.820G>A (p.Glu274Lys) rs531415593 0.00004
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) rs749109905 0.00004
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) rs758759348 0.00004
NM_024301.5(FKRP):c.569G>A (p.Arg190His) rs917645867 0.00004
NM_024334.3(TMEM43):c.231C>G (p.Ile77Met) rs899266809 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.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024422.6(DSC2):c.1034T>C (p.Ile345Thr) rs777688726 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.286A>G (p.Ile96Val) rs772447450 0.00004
NM_024422.6(DSC2):c.490G>A (p.Ala164Thr) rs978623916 0.00004
NM_030662.4(MAP2K2):c.274A>G (p.Arg92Gly) rs759061964 0.00004
NM_030662.4(MAP2K2):c.841C>T (p.Arg281Trp) rs759998177 0.00004
NM_030662.4(MAP2K2):c.938G>A (p.Arg313Gln) rs151133017 0.00004
NM_032578.4(MYPN):c.1518T>G (p.Phe506Leu) rs780297988 0.00004
NM_032578.4(MYPN):c.1789C>T (p.Arg597Cys) rs367570424 0.00004
NM_032578.4(MYPN):c.1936G>A (p.Val646Met) rs772535532 0.00004
NM_032578.4(MYPN):c.2105C>T (p.Ala702Val) rs144822514 0.00004
NM_032578.4(MYPN):c.3272G>A (p.Arg1091Gln) rs768452699 0.00004
NM_032578.4(MYPN):c.3305C>T (p.Pro1102Leu) rs201693405 0.00004
NM_032578.4(MYPN):c.3416G>A (p.Arg1139His) rs531222847 0.00004
NM_130468.4(CHST14):c.400C>T (p.Arg134Trp) rs368203130 0.00004
NM_130468.4(CHST14):c.869C>T (p.Ala290Val) rs763074027 0.00004
NM_130468.4(CHST14):c.933G>C (p.Glu311Asp) rs927457735 0.00004
NM_144573.4(NEXN):c.1010T>C (p.Ile337Thr) rs749553777 0.00004
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) rs750076188 0.00004
NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln) rs373057251 0.00004
NM_144573.4(NEXN):c.1529A>G (p.Lys510Arg) rs759726867 0.00004
NM_144573.4(NEXN):c.1595T>C (p.Ile532Thr) rs754656961 0.00004
NM_144573.4(NEXN):c.175G>A (p.Glu59Lys) rs761888910 0.00004
NM_144573.4(NEXN):c.1892T>C (p.Ile631Thr) rs775292649 0.00004
NM_144573.4(NEXN):c.370G>A (p.Glu124Lys) rs372745590 0.00004
NM_144573.4(NEXN):c.818G>A (p.Arg273His) rs765385072 0.00004
NM_144573.4(NEXN):c.836G>A (p.Arg279His) rs750349053 0.00004
NM_144573.4(NEXN):c.967G>A (p.Glu323Lys) rs1196365963 0.00004
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile) rs769630742 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.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_170707.4(LMNA):c.1556C>T (p.Thr519Ile) rs753988867 0.00004
NM_170707.4(LMNA):c.1580G>A (p.Arg527His) rs57520892 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_172201.2(KCNE2):c.46C>T (p.Arg16Ter) rs779306606 0.00004
NM_172201.2(KCNE2):c.67A>T (p.Met23Leu) rs747045005 0.00004
NM_174934.4(SCN4B):c.347T>C (p.Ile116Thr) rs769406938 0.00004
NM_174934.4(SCN4B):c.463+3A>T rs751139039 0.00004
NM_174936.4(PCSK9):c.1287C>A (p.Phe429Leu) rs111427099 0.00004
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala) rs772677312 0.00004
NM_174936.4(PCSK9):c.2002A>G (p.Ser668Gly) rs775077080 0.00004
NM_174936.4(PCSK9):c.2044C>T (p.Arg682Trp) rs753308448 0.00004
NM_174936.4(PCSK9):c.2050C>G (p.Leu684Val) rs201557607 0.00004
NM_174936.4(PCSK9):c.286C>T (p.Arg96Cys) rs185392267 0.00004
NM_174936.4(PCSK9):c.742C>T (p.Arg248Cys) rs779824389 0.00004
NM_174936.4(PCSK9):c.829G>C (p.Val277Leu) rs562011178 0.00004
NM_181486.4(TBX5):c.1477G>A (p.Val493Met) rs556197042 0.00004
NM_201596.3(CACNB2):c.1433G>A (p.Arg478His) rs781646326 0.00004
NM_201596.3(CACNB2):c.1517G>A (p.Arg506His) rs532262049 0.00004
NM_201596.3(CACNB2):c.1532G>A (p.Arg511His) rs1039406883 0.00004
NM_201596.3(CACNB2):c.1642G>A (p.Gly548Ser) rs730880059 0.00004
NM_201596.3(CACNB2):c.1687C>G (p.Arg563Gly) rs760811952 0.00004
NM_201596.3(CACNB2):c.1736T>G (p.Val579Gly) rs370475450 0.00004
NM_201596.3(CACNB2):c.1739A>G (p.Asp580Gly) rs762715765 0.00004
NM_201596.3(CACNB2):c.1814C>G (p.Ser605Cys) rs548428286 0.00004
NM_201596.3(CACNB2):c.1898G>A (p.Arg633His) rs780045364 0.00004
NM_201596.3(CACNB2):c.718C>G (p.Pro240Ala) rs750627674 0.00004
NM_000020.3(ACVRL1):c.518T>C (p.Met173Thr) rs754813319 0.00003
NM_000039.3(APOA1):c.28G>A (p.Val10Met) rs750125257 0.00003
NM_000071.3(CBS):c.1009A>G (p.Met337Val) rs372822486 0.00003
NM_000088.4(COL1A1):c.3000G>C (p.Met1000Ile) rs769158560 0.00003
NM_000088.4(COL1A1):c.3769C>T (p.Arg1257Cys) rs368295399 0.00003
NM_000088.4(COL1A1):c.4321G>A (p.Asp1441Asn) rs72656351 0.00003
NM_000089.4(COL1A2):c.1536T>G (p.His512Gln) rs200231086 0.00003
NM_000089.4(COL1A2):c.3014G>A (p.Arg1005His) rs200357942 0.00003
NM_000089.4(COL1A2):c.700C>T (p.Arg234Cys) rs1206388800 0.00003
NM_000116.5(TAFAZZIN):c.27C>G (p.Phe9Leu) rs1223065368 0.00003
NM_000116.5(TAFAZZIN):c.674C>T (p.Pro225Leu) rs375151766 0.00003
NM_000117.3(EMD):c.110A>T (p.Lys37Met) rs1085307681 0.00003
NM_000117.3(EMD):c.173C>T (p.Ser58Phe) rs781797234 0.00003
NM_000117.3(EMD):c.449+5G>A rs370840449 0.00003
NM_000117.3(EMD):c.502C>T (p.Arg168Cys) rs886044839 0.00003
NM_000117.3(EMD):c.677G>C (p.Trp226Ser) rs141732118 0.00003
NM_000152.5(GAA):c.1849G>A (p.Val617Met) rs767977395 0.00003
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala) rs201485261 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000169.3(GLA):c.1067G>A (p.Arg356Gln) rs869312163 0.00003
NM_000169.3(GLA):c.419A>C (p.Lys140Thr) rs150228150 0.00003
NM_000169.3(GLA):c.566T>G (p.Leu189Trp) rs1555985577 0.00003
NM_000218.3(KCNQ1):c.1238A>G (p.Lys413Arg) rs1351149628 0.00003
NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn) rs747704276 0.00003
NM_000218.3(KCNQ1):c.1378G>A (p.Gly460Ser) rs199472783 0.00003
NM_000218.3(KCNQ1):c.1514+3G>A rs374767819 0.00003
NM_000218.3(KCNQ1):c.1555C>T (p.Arg519Cys) rs199472787 0.00003
NM_000218.3(KCNQ1):c.1936G>A (p.Gly646Ser) rs763478809 0.00003
NM_000218.3(KCNQ1):c.233A>C (p.Asp78Ala) rs1846021008 0.00003
NM_000218.3(KCNQ1):c.484G>A (p.Val162Met) rs199472692 0.00003
NM_000218.3(KCNQ1):c.683+3G>A rs1025802726 0.00003
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514 0.00003
NM_000219.6(KCNE1):c.173C>T (p.Thr58Ile) rs747321794 0.00003
NM_000219.6(KCNE1):c.247G>A (p.Glu83Lys) rs199473360 0.00003
NM_000219.6(KCNE1):c.293G>A (p.Arg98Gln) rs150454912 0.00003
NM_000237.3(LPL):c.112G>A (p.Glu38Lys) rs557015233 0.00003
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His) rs730880118 0.00003
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile) rs199472958 0.00003
NM_000238.4(KCNH2):c.2144C>T (p.Ala715Val) rs780656919 0.00003
NM_000238.4(KCNH2):c.2735G>A (p.Arg912Gln) rs958442820 0.00003
NM_000238.4(KCNH2):c.2753G>A (p.Ser918Asn) rs1268921735 0.00003
NM_000238.4(KCNH2):c.2770G>T (p.Gly924Trp) rs794728397 0.00003
NM_000238.4(KCNH2):c.2902C>G (p.Pro968Ala) rs753788508 0.00003
NM_000238.4(KCNH2):c.3072C>T (p.Asn1024=) rs781274793 0.00003
NM_000238.4(KCNH2):c.3224C>T (p.Pro1075Leu) rs199473028 0.00003
NM_000238.4(KCNH2):c.3247A>G (p.Thr1083Ala) rs751559990 0.00003
NM_000238.4(KCNH2):c.3365C>T (p.Pro1122Leu) rs531460655 0.00003
NM_000238.4(KCNH2):c.3430G>A (p.Ala1144Thr) rs199473034 0.00003
NM_000238.4(KCNH2):c.383A>G (p.Asn128Ser) rs200343670 0.00003
NM_000238.4(KCNH2):c.694C>T (p.Arg232Cys) rs956828658 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.1243A>C (p.Ile415Leu) rs1269517446 0.00003
NM_000256.3(MYBPC3):c.1601C>T (p.Ala534Val) rs374349666 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.2125G>A (p.Asp709Asn) rs886039029 0.00003
NM_000256.3(MYBPC3):c.2161A>T (p.Thr721Ser) rs768993308 0.00003
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His) rs534345197 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.2624A>T (p.His875Leu) rs774889182 0.00003
NM_000256.3(MYBPC3):c.263T>A (p.Val88Asp) rs730880583 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.3229G>T (p.Ala1077Ser) rs397516009 0.00003
NM_000256.3(MYBPC3):c.3343G>A (p.Val1115Ile) rs531189495 0.00003
NM_000256.3(MYBPC3):c.3463A>G (p.Lys1155Glu) rs377352427 0.00003
NM_000256.3(MYBPC3):c.3470C>T (p.Pro1157Leu) rs373304680 0.00003
NM_000256.3(MYBPC3):c.3472G>A (p.Val1158Ile) rs542350927 0.00003
NM_000257.4(MYH7):c.1325G>A (p.Arg442His) rs730880870 0.00003
NM_000257.4(MYH7):c.1625A>G (p.Lys542Arg) rs863224645 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.3779G>A (p.Arg1260Gln) rs747308839 0.00003
NM_000257.4(MYH7):c.4894G>A (p.Ala1632Thr) rs565663412 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_000258.3(MYL3):c.245C>T (p.Ala82Val) rs752549068 0.00003
NM_000258.3(MYL3):c.91C>T (p.Arg31Cys) rs377026344 0.00003
NM_000335.5(SCN5A):c.1366G>A (p.Val456Met) rs760016062 0.00003
NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys) rs199473123 0.00003
NM_000335.5(SCN5A):c.1706G>A (p.Arg569Gln) rs769292594 0.00003
NM_000335.5(SCN5A):c.1880C>T (p.Pro627Leu) rs778522112 0.00003
NM_000335.5(SCN5A):c.1901C>T (p.Ser634Leu) rs568517614 0.00003
NM_000335.5(SCN5A):c.25G>A (p.Gly9Ser) rs756805318 0.00003
NM_000335.5(SCN5A):c.275C>T (p.Thr92Ile) rs765675330 0.00003
NM_000335.5(SCN5A):c.2924G>A (p.Arg975Gln) rs753149586 0.00003
NM_000335.5(SCN5A):c.2948G>A (p.Gly983Asp) rs766096031 0.00003
NM_000335.5(SCN5A):c.3093C>T (p.Gly1031=) rs755980331 0.00003
NM_000335.5(SCN5A):c.3388-3T>C rs949932623 0.00003
NM_000335.5(SCN5A):c.3389C>T (p.Thr1130Ile) rs199473197 0.00003
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile) rs557957405 0.00003
NM_000335.5(SCN5A):c.3460C>T (p.Pro1154Ser) rs781103369 0.00003
NM_000335.5(SCN5A):c.3539T>C (p.Val1180Ala) rs376965389 0.00003
NM_000335.5(SCN5A):c.3914G>A (p.Arg1305His) rs730880207 0.00003
NM_000335.5(SCN5A):c.4277C>A (p.Ala1426Glu) rs1335890539 0.00003
NM_000335.5(SCN5A):c.4339A>C (p.Ile1447Leu) rs199473250 0.00003
NM_000335.5(SCN5A):c.44G>C (p.Arg15Thr) rs373410109 0.00003
NM_000335.5(SCN5A):c.4532G>A (p.Arg1511Gln) rs368219299 0.00003
NM_000335.5(SCN5A):c.476A>G (p.Tyr159Cys) rs767116750 0.00003
NM_000335.5(SCN5A):c.5464G>A (p.Glu1822Lys) rs760837591 0.00003
NM_000335.5(SCN5A):c.5479G>A (p.Ala1827Thr) rs774593360 0.00003
NM_000335.5(SCN5A):c.5665G>A (p.Glu1889Lys) rs766875593 0.00003
NM_000335.5(SCN5A):c.5747T>C (p.Leu1916Pro) rs765713843 0.00003
NM_000335.5(SCN5A):c.5752C>T (p.Arg1918Cys) rs199473328 0.00003
NM_000335.5(SCN5A):c.718G>A (p.Val240Met) rs199473076 0.00003
NM_000363.5(TNNI3):c.304G>A (p.Ala102Thr) rs374618872 0.00003
NM_000371.4(TTR):c.-15C>T rs746692906 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_000384.3(APOB):c.10417G>A (p.Ala3473Thr) rs150790543 0.00003
NM_000384.3(APOB):c.10541C>T (p.Ala3514Val) rs1450324476 0.00003
NM_000384.3(APOB):c.12148G>A (p.Glu4050Lys) rs201448956 0.00003
NM_000384.3(APOB):c.13448C>T (p.Ala4483Val) rs147416761 0.00003
NM_000384.3(APOB):c.13586A>G (p.His4529Arg) rs958014928 0.00003
NM_000384.3(APOB):c.218C>A (p.Ala73Asp) rs377171241 0.00003
NM_000384.3(APOB):c.2675C>T (p.Pro892Leu) rs780537483 0.00003
NM_000384.3(APOB):c.4954A>C (p.Ile1652Leu) rs776008744 0.00003
NM_000384.3(APOB):c.5164G>A (p.Asp1722Asn) rs757793421 0.00003
NM_000384.3(APOB):c.538-3T>C rs771285740 0.00003
NM_000384.3(APOB):c.571A>G (p.Thr191Ala) rs1318040190 0.00003
NM_000384.3(APOB):c.598G>A (p.Ala200Thr) rs763878189 0.00003
NM_000384.3(APOB):c.6659T>C (p.Val2220Ala) rs374736992 0.00003
NM_000384.3(APOB):c.7585C>A (p.Gln2529Lys) rs747140161 0.00003
NM_000384.3(APOB):c.7823A>C (p.Gln2608Pro) rs767180578 0.00003
NM_000384.3(APOB):c.7931G>T (p.Arg2644Met) rs777825152 0.00003
NM_000384.3(APOB):c.7939A>C (p.Thr2647Pro) rs748143305 0.00003
NM_000384.3(APOB):c.8258C>G (p.Pro2753Arg) rs765290152 0.00003
NM_000384.3(APOB):c.8299C>T (p.Pro2767Ser) rs138465008 0.00003
NM_000384.3(APOB):c.8693T>C (p.Leu2898Pro) rs376974746 0.00003
NM_000384.3(APOB):c.889C>T (p.Arg297Cys) rs766376456 0.00003
NM_000384.3(APOB):c.9077A>T (p.Asn3026Ile) rs770981667 0.00003
NM_000384.3(APOB):c.9550C>T (p.His3184Tyr) rs746911939 0.00003
NM_000384.3(APOB):c.9574G>T (p.Val3192Leu) rs367631875 0.00003
NM_000384.3(APOB):c.9641A>G (p.Asn3214Ser) rs763030591 0.00003
NM_000384.3(APOB):c.9738T>G (p.Phe3246Leu) rs368703055 0.00003
NM_000432.4(MYL2):c.49G>A (p.Val17Met) rs730880943 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys) rs1208667598 0.00003
NM_000719.7(CACNA1C):c.1823C>T (p.Thr608Ile) rs757507674 0.00003
NM_000719.7(CACNA1C):c.2961-5C>T rs781703710 0.00003
NM_000719.7(CACNA1C):c.3386C>T (p.Thr1129Met) rs374549078 0.00003
NM_000719.7(CACNA1C):c.3943A>G (p.Met1315Val) rs756734279 0.00003
NM_000719.7(CACNA1C):c.50-3C>T rs780161540 0.00003
NM_000719.7(CACNA1C):c.5098G>A (p.Gly1700Ser) rs761966966 0.00003
NM_000719.7(CACNA1C):c.538G>A (p.Ala180Thr) rs786205769 0.00003
NM_000719.7(CACNA1C):c.5408G>A (p.Arg1803Gln) rs201918158 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000719.7(CACNA1C):c.6059G>A (p.Ser2020Asn) rs373503739 0.00003
NM_000719.7(CACNA1C):c.6064G>C (p.Ala2022Pro) rs758974396 0.00003
NM_000719.7(CACNA1C):c.6239A>G (p.Asn2080Ser) rs886049209 0.00003
NM_000719.7(CACNA1C):c.6329G>T (p.Gly2110Val) rs745731628 0.00003
NM_000719.7(CACNA1C):c.6368C>G (p.Pro2123Arg) rs970305864 0.00003
NM_000722.4(CACNA2D1):c.1076T>C (p.Met359Thr) rs1348576976 0.00003
NM_000784.4(CYP27A1):c.1556A>G (p.Asn519Ser) rs371510438 0.00003
NM_000784.4(CYP27A1):c.20C>T (p.Ala7Val) rs1364383591 0.00003
NM_000784.4(CYP27A1):c.241C>A (p.Leu81Met) rs370498798 0.00003
NM_000784.4(CYP27A1):c.373C>G (p.Pro125Ala) rs1046723537 0.00003
NM_000890.5(KCNJ5):c.224G>A (p.Ser75Asn) rs892317617 0.00003
NM_000890.5(KCNJ5):c.631C>T (p.Arg211Trp) rs143790141 0.00003
NM_000891.3(KCNJ2):c.1205C>T (p.Thr402Met) rs759070406 0.00003
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu) rs749707062 0.00003
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys) rs1208347768 0.00003
NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg) rs763492084 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.1796A>G (p.Lys599Arg) rs533659697 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.2081T>G (p.Leu694Arg) rs794729115 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.1024G>A (p.Val342Met) rs371898166 0.00003
NM_001035.3(RYR2):c.10709G>A (p.Arg3570Gln) rs751520590 0.00003
NM_001035.3(RYR2):c.1092A>C (p.Gln364His) rs763183698 0.00003
NM_001035.3(RYR2):c.1154G>C (p.Gly385Ala) rs373148638 0.00003
NM_001035.3(RYR2):c.1172C>G (p.Ala391Gly) rs374306538 0.00003
NM_001035.3(RYR2):c.12241G>A (p.Glu4081Lys) rs763004638 0.00003
NM_001035.3(RYR2):c.12658G>A (p.Glu4220Lys) rs753433827 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.294+3A>G rs1321804058 0.00003
NM_001035.3(RYR2):c.2951G>A (p.Ser984Asn) rs730880188 0.00003
NM_001035.3(RYR2):c.295A>C (p.Lys99Gln) rs1172697175 0.00003
NM_001035.3(RYR2):c.3361G>C (p.Gly1121Arg) rs199682282 0.00003
NM_001035.3(RYR2):c.3660T>A (p.Asp1220Glu) rs1019112544 0.00003
NM_001035.3(RYR2):c.4829G>A (p.Arg1610Gln) rs764687833 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.5371A>G (p.Thr1791Ala) rs1025023837 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.5774T>C (p.Ile1925Thr) rs761505396 0.00003
NM_001035.3(RYR2):c.6158A>G (p.Lys2053Arg) rs771590345 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.7342+4A>T rs771358777 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.8209-4T>C rs371966353 0.00003
NM_001035.3(RYR2):c.8262G>C (p.Gln2754His) rs773748242 0.00003
NM_001035.3(RYR2):c.9755A>G (p.His3252Arg) rs760379293 0.00003
NM_001037.5(SCN1B):c.134G>A (p.Arg45His) rs180943300 0.00003
NM_001037.5(SCN1B):c.23T>C (p.Val8Ala) rs786205833 0.00003
NM_001037.5(SCN1B):c.627G>C (p.Glu209Asp) rs745580499 0.00003
NM_001037.5(SCN1B):c.82A>G (p.Thr28Ala) rs786205838 0.00003
NM_001040151.2(SCN3B):c.14A>G (p.Asn5Ser) rs369522500 0.00003
NM_001040151.2(SCN3B):c.415C>T (p.Arg139Trp) rs368054375 0.00003
NM_001077653.2(TBX20):c.785C>T (p.Thr262Met) rs747369702 0.00003
NM_001077653.2(TBX20):c.895A>G (p.Ser299Gly) rs879081798 0.00003
NM_001077653.2(TBX20):c.994C>T (p.Pro332Ser) rs201431768 0.00003
NM_001079802.2(FKTN):c.1249G>A (p.Glu417Lys) rs765934383 0.00003
NM_001079802.2(FKTN):c.1357G>A (p.Glu453Lys) rs759936979 0.00003
NM_001079802.2(FKTN):c.140G>A (p.Arg47Gln) rs753641411 0.00003
NM_001079802.2(FKTN):c.247A>G (p.Ile83Val) rs757798867 0.00003
NM_001103.4(ACTN2):c.1107G>A (p.Ser369=) rs369218950 0.00003
NM_001103.4(ACTN2):c.1295C>T (p.Ala432Val) rs767291633 0.00003
NM_001103.4(ACTN2):c.1445G>A (p.Arg482Gln) rs778023612 0.00003
NM_001103.4(ACTN2):c.1658G>C (p.Ser553Thr) rs778767257 0.00003
NM_001103.4(ACTN2):c.1919G>A (p.Arg640His) rs772909106 0.00003
NM_001103.4(ACTN2):c.1972G>C (p.Glu658Gln) rs374135486 0.00003
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739 0.00003
NM_001103.4(ACTN2):c.2063A>G (p.Tyr688Cys) rs145248415 0.00003
NM_001103.4(ACTN2):c.2162G>A (p.Arg721His) rs546431200 0.00003
NM_001103.4(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290 0.00003
NM_001103.4(ACTN2):c.2551C>T (p.Arg851Cys) rs141563497 0.00003
NM_001103.4(ACTN2):c.2555G>A (p.Arg852Gln) rs727502888 0.00003
NM_001103.4(ACTN2):c.2567C>T (p.Pro856Leu) rs375588211 0.00003
NM_001103.4(ACTN2):c.2668G>A (p.Gly890Arg) rs536297856 0.00003
NM_001103.4(ACTN2):c.401T>C (p.Ile134Thr) rs770368711 0.00003
NM_001103.4(ACTN2):c.541A>G (p.Lys181Glu) rs779350391 0.00003
NM_001103.4(ACTN2):c.556C>T (p.Leu186Phe) rs371930065 0.00003
NM_001103.4(ACTN2):c.983G>A (p.Arg328Gln) rs774046373 0.00003
NM_001105206.3(LAMA4):c.1057G>A (p.Val353Ile) rs781919461 0.00003
NM_001105206.3(LAMA4):c.107T>C (p.Ile36Thr) rs70940809 0.00003
NM_001105206.3(LAMA4):c.1275G>T (p.Lys425Asn) rs782618132 0.00003
NM_001105206.3(LAMA4):c.1411T>C (p.Phe471Leu) rs782067046 0.00003
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp) rs782319667 0.00003
NM_001105206.3(LAMA4):c.2096G>A (p.Gly699Asp) rs782786459 0.00003
NM_001105206.3(LAMA4):c.2912C>T (p.Ser971Phe) rs781856644 0.00003
NM_001105206.3(LAMA4):c.3585T>A (p.Asp1195Glu) rs786205410 0.00003
NM_001105206.3(LAMA4):c.3697-3C>T rs536295629 0.00003
NM_001105206.3(LAMA4):c.40T>C (p.Trp14Arg) rs782293373 0.00003
NM_001105206.3(LAMA4):c.4235T>C (p.Leu1412Pro) rs376369192 0.00003
NM_001105206.3(LAMA4):c.4409A>T (p.Tyr1470Phe) rs1554326304 0.00003
NM_001105206.3(LAMA4):c.5254A>G (p.Asn1752Asp) rs371370857 0.00003
NM_001105206.3(LAMA4):c.652G>A (p.Gly218Arg) rs781829741 0.00003
NM_001105206.3(LAMA4):c.964A>C (p.Lys322Gln) rs1375382054 0.00003
NM_001105206.3(LAMA4):c.997G>A (p.Ala333Thr) rs576711704 0.00003
NM_001134363.3(RBM20):c.1066A>C (p.Thr356Pro) rs1021465138 0.00003
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) rs183007628 0.00003
NM_001134363.3(RBM20):c.2173G>A (p.Glu725Lys) rs190416018 0.00003
NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro) rs886038858 0.00003
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp) rs199830512 0.00003
NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser) rs780673583 0.00003
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys) rs565524160 0.00003
NM_001134363.3(RBM20):c.3314C>T (p.Pro1105Leu) rs1241224023 0.00003
NM_001148.6(ANK2):c.10099T>A (p.Ser3367Thr) rs878854255 0.00003
NM_001148.6(ANK2):c.1111G>A (p.Val371Ile) rs759437203 0.00003
NM_001148.6(ANK2):c.1118C>T (p.Ala373Val) rs772102642 0.00003
NM_001148.6(ANK2):c.11695G>T (p.Val3899Phe) rs878854256 0.00003
NM_001148.6(ANK2):c.2813A>T (p.Lys938Met) rs778597568 0.00003
NM_001148.6(ANK2):c.2890A>G (p.Ile964Val) rs750129234 0.00003
NM_001148.6(ANK2):c.3572G>A (p.Arg1191Gln) rs780110299 0.00003
NM_001148.6(ANK2):c.3829A>T (p.Thr1277Ser) rs1385787370 0.00003
NM_001148.6(ANK2):c.4122+4C>A rs756374268 0.00003
NM_001148.6(ANK2):c.4883A>G (p.Lys1628Arg) rs886038910 0.00003
NM_001148.6(ANK2):c.5575C>A (p.Pro1859Thr) rs781312863 0.00003
NM_001148.6(ANK2):c.6977A>G (p.Asp2326Gly) rs777618921 0.00003
NM_001148.6(ANK2):c.792+4T>C rs374253227 0.00003
NM_001159699.2(FHL1):c.248G>A (p.Arg83His) rs745544703 0.00003
NM_001159699.2(FHL1):c.253G>A (p.Ala85Thr) rs139625615 0.00003
NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr) rs756434530 0.00003
NM_001159699.2(FHL1):c.379+4C>T rs769453769 0.00003
NM_001232.4(CASQ2):c.175C>T (p.Pro59Ser) rs866858282 0.00003
NM_001232.4(CASQ2):c.491A>G (p.Tyr164Cys) rs72554062 0.00003
NM_001232.4(CASQ2):c.650A>G (p.Tyr217Cys) rs373227317 0.00003
NM_001232.4(CASQ2):c.752G>A (p.Arg251His) rs200265771 0.00003
NM_001232.4(CASQ2):c.757C>A (p.Arg253Ser) rs727504510 0.00003
NM_001232.4(CASQ2):c.878G>A (p.Arg293Gln) rs377691566 0.00003
NM_001232.4(CASQ2):c.943G>A (p.Val315Ile) rs771188512 0.00003
NM_001232.4(CASQ2):c.979T>C (p.Phe327Leu) rs976749091 0.00003
NM_001267550.2(TTN):c.10046C>T (p.Thr3349Ile) rs727503678 0.00003
NM_001267550.2(TTN):c.100829G>A (p.Gly33610Asp) rs373754986 0.00003
NM_001267550.2(TTN):c.101040G>T (p.Lys33680Asn) rs776913696 0.00003
NM_001267550.2(TTN):c.101479C>T (p.Arg33827Cys) rs372067498 0.00003
NM_001267550.2(TTN):c.10162C>T (p.Arg3388Trp) rs758680640 0.00003
NM_001267550.2(TTN):c.102094_102096dup (p.Tyr34032dup) rs763311506 0.00003
NM_001267550.2(TTN):c.103486A>G (p.Thr34496Ala) rs183912990 0.00003
NM_001267550.2(TTN):c.103610G>A (p.Arg34537Gln) rs369028576 0.00003
NM_001267550.2(TTN):c.103847G>C (p.Arg34616Thr) rs573782418 0.00003
NM_001267550.2(TTN):c.103906C>T (p.Arg34636Cys) rs768575577 0.00003
NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val) rs762136167 0.00003
NM_001267550.2(TTN):c.106054T>C (p.Ser35352Pro) rs370094513 0.00003
NM_001267550.2(TTN):c.107009G>C (p.Arg35670Thr) rs534961012 0.00003
NM_001267550.2(TTN):c.11614G>A (p.Gly3872Ser) rs754936734 0.00003
NM_001267550.2(TTN):c.12103A>G (p.Met4035Val) rs727503659 0.00003
NM_001267550.2(TTN):c.1232C>G (p.Thr411Ser) rs886042193 0.00003
NM_001267550.2(TTN):c.1245+3A>G rs757221300 0.00003
NM_001267550.2(TTN):c.1288G>A (p.Val430Ile) rs371639583 0.00003
NM_001267550.2(TTN):c.13228G>A (p.Glu4410Lys) rs374312091 0.00003
NM_001267550.2(TTN):c.14005G>A (p.Glu4669Lys) rs368543748 0.00003
NM_001267550.2(TTN):c.14152A>G (p.Lys4718Glu) rs757119133 0.00003
NM_001267550.2(TTN):c.14272G>A (p.Glu4758Lys) rs928709551 0.00003
NM_001267550.2(TTN):c.14305G>A (p.Glu4769Lys) rs566108422 0.00003
NM_001267550.2(TTN):c.15562C>A (p.Gln5188Lys) rs886038908 0.00003
NM_001267550.2(TTN):c.2138G>A (p.Arg713Gln) rs761383124 0.00003
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe) rs140953779 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.40723+1G>T rs371770198 0.00003
NM_001267550.2(TTN):c.43316G>A (p.Arg14439His) rs764117439 0.00003
NM_001267550.2(TTN):c.43681G>T (p.Asp14561Tyr) rs745655055 0.00003
NM_001267550.2(TTN):c.44366A>G (p.Tyr14789Cys) rs397517577 0.00003
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 0.00003
NM_001267550.2(TTN):c.46984C>T (p.Arg15662Cys) rs762723635 0.00003
NM_001267550.2(TTN):c.47090G>A (p.Arg15697His) rs757663389 0.00003
NM_001267550.2(TTN):c.48023G>A (p.Arg16008Gln) rs771224957 0.00003
NM_001267550.2(TTN):c.48164G>A (p.Arg16055His) rs72677238 0.00003
NM_001267550.2(TTN):c.48827T>C (p.Ile16276Thr) rs759916327 0.00003
NM_001267550.2(TTN):c.49207T>C (p.Ser16403Pro) rs746009199 0.00003
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile) rs377141765 0.00003
NM_001267550.2(TTN):c.50812G>C (p.Glu16938Gln) rs72677250 0.00003
NM_001267550.2(TTN):c.51943G>A (p.Val17315Ile) rs778099881 0.00003
NM_001267550.2(TTN):c.52505T>C (p.Leu17502Ser) rs368013299 0.00003
NM_001267550.2(TTN):c.52589A>G (p.Asn17530Ser) rs762214300 0.00003
NM_001267550.2(TTN):c.52831G>A (p.Val17611Ile) rs748265704 0.00003
NM_001267550.2(TTN):c.53881+4C>T rs187632918 0.00003
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_001267550.2(TTN):c.55988A>G (p.Asn18663Ser) rs368350844 0.00003
NM_001267550.2(TTN):c.56171A>G (p.Lys18724Arg) rs201091423 0.00003
NM_001267550.2(TTN):c.56822C>T (p.Ala18941Val) rs754264431 0.00003
NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr) rs373351577 0.00003
NM_001267550.2(TTN):c.57300T>G (p.Asp19100Glu) rs876658069 0.00003
NM_001267550.2(TTN):c.57332G>A (p.Arg19111Gln) rs375808207 0.00003
NM_001267550.2(TTN):c.57848-4G>A rs369462016 0.00003
NM_001267550.2(TTN):c.57859C>T (p.Arg19287Cys) rs372710684 0.00003
NM_001267550.2(TTN):c.5797G>A (p.Glu1933Lys) rs769734824 0.00003
NM_001267550.2(TTN):c.58019T>A (p.Leu19340His) rs777213118 0.00003
NM_001267550.2(TTN):c.583+4C>T rs764670848 0.00003
NM_001267550.2(TTN):c.59966T>C (p.Val19989Ala) rs778982581 0.00003
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His) rs756091180 0.00003
NM_001267550.2(TTN):c.61447C>T (p.Arg20483Cys) rs770139489 0.00003
NM_001267550.2(TTN):c.62611C>G (p.Leu20871Val) rs767670018 0.00003
NM_001267550.2(TTN):c.63185T>G (p.Ile21062Arg) rs575313522 0.00003
NM_001267550.2(TTN):c.63665T>C (p.Val21222Ala) rs183595734 0.00003
NM_001267550.2(TTN):c.64715T>C (p.Ile21572Thr) rs765749707 0.00003
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln) rs373282633 0.00003
NM_001267550.2(TTN):c.65410T>C (p.Trp21804Arg) rs745626132 0.00003
NM_001267550.2(TTN):c.65987G>A (p.Arg21996His) rs374489349 0.00003
NM_001267550.2(TTN):c.659G>A (p.Arg220Gln) rs794729621 0.00003
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys) rs764330098 0.00003
NM_001267550.2(TTN):c.6668A>T (p.His2223Leu) rs372979075 0.00003
NM_001267550.2(TTN):c.66863G>A (p.Arg22288His) rs537871205 0.00003
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val) rs771710562 0.00003
NM_001267550.2(TTN):c.69517G>A (p.Gly23173Arg) rs773592810 0.00003
NM_001267550.2(TTN):c.69749C>T (p.Thr23250Ile) rs771327436 0.00003
NM_001267550.2(TTN):c.73213G>A (p.Glu24405Lys) rs764485436 0.00003
NM_001267550.2(TTN):c.73637A>T (p.Asp24546Val) rs769744030 0.00003
NM_001267550.2(TTN):c.73975G>A (p.Gly24659Ser) rs776423108 0.00003
NM_001267550.2(TTN):c.74615G>A (p.Arg24872Lys) rs923165795 0.00003
NM_001267550.2(TTN):c.74814T>A (p.Ser24938Arg) rs747593205 0.00003
NM_001267550.2(TTN):c.75526C>T (p.Arg25176Cys) rs368339903 0.00003
NM_001267550.2(TTN):c.77093T>G (p.Val25698Gly) rs759278736 0.00003
NM_001267550.2(TTN):c.78244T>A (p.Cys26082Ser) rs794727452 0.00003
NM_001267550.2(TTN):c.78401G>A (p.Arg26134His) rs377668457 0.00003
NM_001267550.2(TTN):c.78413C>A (p.Ala26138Asp) rs373587432 0.00003
NM_001267550.2(TTN):c.78493G>A (p.Ala26165Thr) rs886039080 0.00003
NM_001267550.2(TTN):c.79481C>T (p.Ala26494Val) rs368484949 0.00003
NM_001267550.2(TTN):c.79685G>A (p.Arg26562Gln) rs538960023 0.00003
NM_001267550.2(TTN):c.80882C>T (p.Ala26961Val) rs749194310 0.00003
NM_001267550.2(TTN):c.81178G>T (p.Asp27060Tyr) rs372875889 0.00003
NM_001267550.2(TTN):c.82424C>A (p.Thr27475Lys) rs377169807 0.00003
NM_001267550.2(TTN):c.84353G>T (p.Arg28118Leu) rs72648220 0.00003
NM_001267550.2(TTN):c.84976C>T (p.Arg28326Trp) rs749633038 0.00003
NM_001267550.2(TTN):c.85450G>A (p.Asp28484Asn) rs56330345 0.00003
NM_001267550.2(TTN):c.86120G>A (p.Gly28707Glu) rs754207859 0.00003
NM_001267550.2(TTN):c.86654G>A (p.Arg28885His) rs371539720 0.00003
NM_001267550.2(TTN):c.86974T>C (p.Cys28992Arg) rs769162510 0.00003
NM_001267550.2(TTN):c.87754G>A (p.Glu29252Lys) rs1164269030 0.00003
NM_001267550.2(TTN):c.88309G>A (p.Gly29437Ser) rs199916082 0.00003
NM_001267550.2(TTN):c.88787C>G (p.Thr29596Ser) rs786205371 0.00003
NM_001267550.2(TTN):c.8902+1G>A rs770392096 0.00003
NM_001267550.2(TTN):c.89984T>C (p.Ile29995Thr) rs754676727 0.00003
NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro) rs368516973 0.00003
NM_001267550.2(TTN):c.90845C>T (p.Thr30282Met) rs756769026 0.00003
NM_001267550.2(TTN):c.91520C>T (p.Pro30507Leu) rs774107448 0.00003
NM_001267550.2(TTN):c.9163+5G>C rs775448783 0.00003
NM_001267550.2(TTN):c.93107T>C (p.Met31036Thr) rs376942948 0.00003
NM_001267550.2(TTN):c.9337C>T (p.Arg3113Cys) rs751998418 0.00003
NM_001267550.2(TTN):c.93388G>A (p.Ala31130Thr) rs759107930 0.00003
NM_001267550.2(TTN):c.94075G>A (p.Val31359Ile) rs780436747 0.00003
NM_001267550.2(TTN):c.94093C>T (p.Arg31365Cys) rs372593328 0.00003
NM_001267550.2(TTN):c.94591G>A (p.Ala31531Thr) rs765066425 0.00003
NM_001267550.2(TTN):c.94826A>G (p.Tyr31609Cys) rs368515116 0.00003
NM_001267550.2(TTN):c.94910C>T (p.Ala31637Val) rs1384723170 0.00003
NM_001267550.2(TTN):c.95068G>A (p.Val31690Met) rs727503543 0.00003
NM_001267550.2(TTN):c.95149G>A (p.Val31717Ile) rs150930737 0.00003
NM_001267550.2(TTN):c.95566C>T (p.Arg31856Cys) rs72648261 0.00003
NM_001267550.2(TTN):c.96934C>T (p.Pro32312Ser) rs1024823449 0.00003
NM_001267550.2(TTN):c.96997C>T (p.Arg32333Cys) rs368918455 0.00003
NM_001267550.2(TTN):c.98591T>C (p.Val32864Ala) rs201257063 0.00003
NM_001267550.2(TTN):c.99752A>G (p.Tyr33251Cys) rs377456237 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.721G>C (p.Glu241Gln) rs1189945246 0.00003
NM_001276345.2(TNNT2):c.883G>A (p.Gly295Arg) rs147940106 0.00003
NM_001289808.2(CRYAB):c.115C>G (p.Pro39Ala) rs145768025 0.00003
NM_001289808.2(CRYAB):c.277G>T (p.Val93Leu) rs547282752 0.00003
NM_001289808.2(CRYAB):c.368G>A (p.Arg123Gln) rs782206421 0.00003
NM_001308093.3(GATA4):c.62G>T (p.Gly21Val) rs202213149 0.00003
NM_001365276.2(TNXB):c.1808G>A (p.Gly603Asp) rs753344187 0.00003
NM_001365276.2(TNXB):c.1854C>G (p.Ile618Met) rs370432702 0.00003
NM_001365276.2(TNXB):c.2296C>T (p.Arg766Trp) rs1232589427 0.00003
NM_001365276.2(TNXB):c.4297G>A (p.Gly1433Arg) rs755953436 0.00003
NM_001365276.2(TNXB):c.4492G>A (p.Glu1498Lys) rs374750804 0.00003
NM_001365276.2(TNXB):c.7546G>A (p.Ala2516Thr) rs1478498254 0.00003
NM_001365276.2(TNXB):c.7793G>A (p.Arg2598His) rs771647661 0.00003
NM_001365276.2(TNXB):c.9679G>A (p.Gly3227Arg) rs752152483 0.00003
NM_001365276.2(TNXB):c.9899A>G (p.Gln3300Arg) rs776725505 0.00003
NM_001367624.2(ZNF469):c.-2C>T rs1048563743 0.00003
NM_001367624.2(ZNF469):c.10196C>T (p.Thr3399Met) rs1009705513 0.00003
NM_001367624.2(ZNF469):c.10394C>A (p.Ala3465Asp) rs1003677220 0.00003
NM_001367624.2(ZNF469):c.10420C>T (p.Arg3474Trp) rs1394199246 0.00003
NM_001367624.2(ZNF469):c.10480C>T (p.Arg3494Trp) rs921811959 0.00003
NM_001367624.2(ZNF469):c.11444C>T (p.Thr3815Met) rs1057518368 0.00003
NM_001367624.2(ZNF469):c.11809G>A (p.Gly3937Arg) rs886052421 0.00003
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr) rs886052393 0.00003
NM_001367624.2(ZNF469):c.2783C>A (p.Ser928Tyr) rs1342047498 0.00003
NM_001367624.2(ZNF469):c.4609G>A (p.Gly1537Ser) rs528560466 0.00003
NM_001367624.2(ZNF469):c.4615G>A (p.Ala1539Thr) rs559565235 0.00003
NM_001367624.2(ZNF469):c.4636G>A (p.Gly1546Arg) rs947954409 0.00003
NM_001367624.2(ZNF469):c.523G>A (p.Ala175Thr) rs1085307628 0.00003
NM_001367624.2(ZNF469):c.6190G>A (p.Glu2064Lys) rs1195523623 0.00003
NM_001367624.2(ZNF469):c.6941C>T (p.Pro2314Leu) rs764584228 0.00003
NM_001367624.2(ZNF469):c.7300C>G (p.Pro2434Ala) rs1326987889 0.00003
NM_001367624.2(ZNF469):c.8438C>G (p.Thr2813Ser) rs985304000 0.00003
NM_001367624.2(ZNF469):c.8762G>A (p.Cys2921Tyr) rs1029645463 0.00003
NM_001367624.2(ZNF469):c.8944G>C (p.Asp2982His) rs1006857833 0.00003
NM_001367624.2(ZNF469):c.9124C>T (p.Arg3042Cys) rs546845105 0.00003
NM_001367624.2(ZNF469):c.9803G>A (p.Gly3268Asp) rs749570458 0.00003
NM_001378454.1(ALMS1):c.10985A>G (p.Glu3662Gly) rs377418428 0.00003
NM_001378454.1(ALMS1):c.11365C>T (p.Arg3789Trp) rs752623561 0.00003
NM_001378454.1(ALMS1):c.11441A>C (p.Asn3814Thr) rs763907736 0.00003
NM_001378454.1(ALMS1):c.11798G>A (p.Arg3933His) rs45576434 0.00003
NM_001378454.1(ALMS1):c.11854A>G (p.Lys3952Glu) rs771282076 0.00003
NM_001378454.1(ALMS1):c.11994G>C (p.Arg3998Ser) rs28730862 0.00003
NM_001378454.1(ALMS1):c.12076A>G (p.Arg4026Gly) rs754439156 0.00003
NM_001378454.1(ALMS1):c.12152G>A (p.Arg4051His) rs750598025 0.00003
NM_001378454.1(ALMS1):c.12257G>A (p.Arg4086Gln) rs917280846 0.00003
NM_001378454.1(ALMS1):c.12275G>A (p.Arg4092His) rs748624161 0.00003
NM_001378454.1(ALMS1):c.12350A>G (p.Gln4117Arg) rs200038446 0.00003
NM_001378454.1(ALMS1):c.1432+4C>T rs200933935 0.00003
NM_001378454.1(ALMS1):c.1607C>G (p.Thr536Ser) rs766105909 0.00003
NM_001378454.1(ALMS1):c.1856C>T (p.Ser619Phe) rs377341653 0.00003
NM_001378454.1(ALMS1):c.2107G>C (p.Asp703His) rs756176783 0.00003
NM_001378454.1(ALMS1):c.2122A>G (p.Thr708Ala) rs571389435 0.00003
NM_001378454.1(ALMS1):c.2134C>G (p.Leu712Val) rs371524359 0.00003
NM_001378454.1(ALMS1):c.2285G>C (p.Ser762Thr) rs768930001 0.00003
NM_001378454.1(ALMS1):c.245C>T (p.Ala82Val) rs747750620 0.00003
NM_001378454.1(ALMS1):c.2486A>G (p.His829Arg) rs370830603 0.00003
NM_001378454.1(ALMS1):c.2494G>A (p.Glu832Lys) rs373979607 0.00003
NM_001378454.1(ALMS1):c.2515G>A (p.Ala839Thr) rs1356972872 0.00003
NM_001378454.1(ALMS1):c.2714C>G (p.Ser905Cys) rs748479099 0.00003
NM_001378454.1(ALMS1):c.3076G>C (p.Ala1026Pro) rs201451396 0.00003
NM_001378454.1(ALMS1):c.3412A>G (p.Thr1138Ala) rs201884768 0.00003
NM_001378454.1(ALMS1):c.3484A>G (p.Thr1162Ala) rs763680884 0.00003
NM_001378454.1(ALMS1):c.3959C>G (p.Ala1320Gly) rs1399638135 0.00003
NM_001378454.1(ALMS1):c.451-4C>G rs761589577 0.00003
NM_001378454.1(ALMS1):c.4795A>G (p.Ile1599Val) rs377671796 0.00003
NM_001378454.1(ALMS1):c.4883A>G (p.Tyr1628Cys) rs375939859 0.00003
NM_001378454.1(ALMS1):c.5724G>C (p.Gln1908His) rs779739318 0.00003
NM_001378454.1(ALMS1):c.587C>T (p.Thr196Met) rs562345472 0.00003
NM_001378454.1(ALMS1):c.5909T>C (p.Val1970Ala) rs765405386 0.00003
NM_001378454.1(ALMS1):c.6379C>T (p.Pro2127Ser) rs771800459 0.00003
NM_001378454.1(ALMS1):c.651A>G (p.Ile217Met) rs774831792 0.00003
NM_001378454.1(ALMS1):c.6707C>T (p.Pro2236Leu) rs201737248 0.00003
NM_001378454.1(ALMS1):c.6937A>G (p.Asn2313Asp) rs766346478 0.00003
NM_001378454.1(ALMS1):c.7013C>T (p.Thr2338Ile) rs373004988 0.00003
NM_001378454.1(ALMS1):c.7040G>T (p.Gly2347Val) rs752336806 0.00003
NM_001378454.1(ALMS1):c.7199G>A (p.Gly2400Glu) rs373985919 0.00003
NM_001378454.1(ALMS1):c.7402A>G (p.Ser2468Gly) rs1007457582 0.00003
NM_001378454.1(ALMS1):c.7892C>T (p.Ala2631Val) rs1027248513 0.00003
NM_001378454.1(ALMS1):c.8074A>G (p.Lys2692Glu) rs201025991 0.00003
NM_001378454.1(ALMS1):c.8122A>C (p.Met2708Leu) rs371904071 0.00003
NM_001378454.1(ALMS1):c.8203G>A (p.Gly2735Ser) rs761136859 0.00003
NM_001378454.1(ALMS1):c.820A>C (p.Ser274Arg) rs761800808 0.00003
NM_001378454.1(ALMS1):c.8257C>A (p.His2753Asn) rs200718841 0.00003
NM_001378454.1(ALMS1):c.8489G>A (p.Cys2830Tyr) rs369720907 0.00003
NM_001378454.1(ALMS1):c.8729A>G (p.His2910Arg) rs781370939 0.00003
NM_001378454.1(ALMS1):c.8890A>G (p.Ile2964Val) rs529506570 0.00003
NM_001378454.1(ALMS1):c.9565C>T (p.Leu3189Phe) rs376367125 0.00003
NM_001378969.1(KCND3):c.1960G>A (p.Ala654Thr) rs774711788 0.00003
NM_001378969.1(KCND3):c.430G>A (p.Ala144Thr) rs143933558 0.00003
NM_001379200.1(TBX1):c.617C>T (p.Pro206Leu) rs766608075 0.00003
NM_001458.5(FLNC):c.1471G>A (p.Val491Met) rs770264114 0.00003
NM_001458.5(FLNC):c.1528A>C (p.Lys510Gln) rs955475416 0.00003
NM_001458.5(FLNC):c.19T>G (p.Tyr7Asp) rs896068048 0.00003
NM_001458.5(FLNC):c.2239G>A (p.Val747Ile) rs764876916 0.00003
NM_001458.5(FLNC):c.2491G>A (p.Val831Ile) rs746478952 0.00003
NM_001458.5(FLNC):c.2500A>G (p.Thr834Ala) rs781169622 0.00003
NM_001458.5(FLNC):c.2845G>C (p.Asp949His) rs761905908 0.00003
NM_001458.5(FLNC):c.2930-5C>T rs371599113 0.00003
NM_001458.5(FLNC):c.3241G>A (p.Ala1081Thr) rs781760817 0.00003
NM_001458.5(FLNC):c.3260C>G (p.Thr1087Ser) rs372205719 0.00003
NM_001458.5(FLNC):c.3353C>T (p.Ala1118Val) rs780461379 0.00003
NM_001458.5(FLNC):c.3376C>G (p.Pro1126Ala) rs748785077 0.00003
NM_001458.5(FLNC):c.3622G>A (p.Ala1208Thr) rs528279616 0.00003
NM_001458.5(FLNC):c.3800G>A (p.Arg1267Gln) rs768767784 0.00003
NM_001458.5(FLNC):c.3866C>T (p.Thr1289Met) rs755896234 0.00003
NM_001458.5(FLNC):c.4413A>T (p.Gln1471His) rs765435961 0.00003
NM_001458.5(FLNC):c.4420C>T (p.Arg1474Trp) rs372454458 0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) rs879255639 0.00003
NM_001458.5(FLNC):c.4970G>A (p.Arg1657Gln) rs374294752 0.00003
NM_001458.5(FLNC):c.5000C>T (p.Thr1667Met) rs753945728 0.00003
NM_001458.5(FLNC):c.5165G>C (p.Gly1722Ala) rs775405275 0.00003
NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln) rs573984029 0.00003
NM_001458.5(FLNC):c.5377G>A (p.Val1793Met) rs587780337 0.00003
NM_001458.5(FLNC):c.550G>A (p.Asp184Asn) rs1215344798 0.00003
NM_001458.5(FLNC):c.5984G>A (p.Arg1995His) rs371508414 0.00003
NM_001458.5(FLNC):c.6040G>A (p.Val2014Met) rs772477251 0.00003
NM_001458.5(FLNC):c.6538C>T (p.Arg2180Cys) rs779029827 0.00003
NM_001458.5(FLNC):c.6569G>A (p.Arg2190His) rs762680314 0.00003
NM_001458.5(FLNC):c.6595G>A (p.Gly2199Arg) rs368977589 0.00003
NM_001458.5(FLNC):c.6642C>T (p.Gly2214=) rs546247674 0.00003
NM_001458.5(FLNC):c.6715C>T (p.Arg2239Trp) rs367820987 0.00003
NM_001458.5(FLNC):c.6779A>G (p.Lys2260Arg) rs751019991 0.00003
NM_001458.5(FLNC):c.7123G>A (p.Val2375Ile) rs768941858 0.00003
NM_001458.5(FLNC):c.7291G>A (p.Val2431Met) rs572952653 0.00003
NM_001458.5(FLNC):c.7309C>T (p.Arg2437Trp) rs756353876 0.00003
NM_001458.5(FLNC):c.7400G>A (p.Arg2467His) rs775910704 0.00003
NM_001458.5(FLNC):c.7484G>A (p.Arg2495His) rs757219498 0.00003
NM_001458.5(FLNC):c.7564G>A (p.Val2522Met) rs780917403 0.00003
NM_001458.5(FLNC):c.7823C>T (p.Thr2608Met) rs1175931652 0.00003
NM_001458.5(FLNC):c.7948G>A (p.Val2650Met) rs372172779 0.00003
NM_001458.5(FLNC):c.898G>A (p.Val300Met) rs765885585 0.00003
NM_001458.5(FLNC):c.919G>A (p.Val307Met) rs763968152 0.00003
NM_001927.4(DES):c.391C>A (p.Gln131Lys) rs771499260 0.00003
NM_001927.4(DES):c.637G>A (p.Ala213Thr) rs918962036 0.00003
NM_001943.5(DSG2):c.122A>T (p.His41Leu) rs777373864 0.00003
NM_001943.5(DSG2):c.1555G>T (p.Asp519Tyr) rs778119035 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.2468A>G (p.Asp823Gly) rs777642924 0.00003
NM_001943.5(DSG2):c.2510C>A (p.Ala837Asp) rs756338201 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_001943.5(DSG2):c.721G>A (p.Ala241Thr) rs371918777 0.00003
NM_001999.4(FBN2):c.4495A>C (p.Asn1499His) rs771260299 0.00003
NM_002230.4(JUP):c.1439A>G (p.Tyr480Cys) rs782756834 0.00003
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654 0.00003
NM_002230.4(JUP):c.2021A>G (p.Lys674Arg) rs1914011596 0.00003
NM_002230.4(JUP):c.467C>T (p.Pro156Leu) rs782052422 0.00003
NM_002294.3(LAMP2):c.1000G>C (p.Glu334Gln) rs766962315 0.00003
NM_002294.3(LAMP2):c.204C>G (p.Asp68Glu) rs376215728 0.00003
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys) rs730880497 0.00003
NM_002294.3(LAMP2):c.398-3T>C rs1045629648 0.00003
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr) rs776101722 0.00003
NM_002294.3(LAMP2):c.999A>C (p.Lys333Asn) rs1341268966 0.00003
NM_002471.4(MYH6):c.1088T>C (p.Met363Thr) rs150272218 0.00003
NM_002471.4(MYH6):c.1885G>A (p.Asp629Asn) rs180904654 0.00003
NM_002471.4(MYH6):c.1960C>T (p.Arg654Trp) rs369938365 0.00003
NM_002471.4(MYH6):c.2039G>A (p.Arg680Gln) rs551746815 0.00003
NM_002471.4(MYH6):c.2065C>A (p.Pro689Thr) rs748016197 0.00003
NM_002471.4(MYH6):c.2141G>A (p.Arg714His) rs776602843 0.00003
NM_002471.4(MYH6):c.233A>G (p.Gln78Arg) rs772216708 0.00003
NM_002471.4(MYH6):c.2399G>A (p.Arg800His) rs535438755 0.00003
NM_002471.4(MYH6):c.2540C>T (p.Thr847Met) rs759408374 0.00003
NM_002471.4(MYH6):c.2615G>A (p.Arg872His) rs773162706 0.00003
NM_002471.4(MYH6):c.2722G>A (p.Asp908Asn) rs758061689 0.00003
NM_002471.4(MYH6):c.2827C>T (p.Arg943Cys) rs368912844 0.00003
NM_002471.4(MYH6):c.2984C>G (p.Thr995Ser) rs753891816 0.00003
NM_002471.4(MYH6):c.3077A>C (p.Lys1026Thr) rs746844081 0.00003
NM_002471.4(MYH6):c.3142A>G (p.Met1048Val) rs1184334975 0.00003
NM_002471.4(MYH6):c.329C>T (p.Ala110Val) rs149454728 0.00003
NM_002471.4(MYH6):c.3448G>A (p.Glu1150Lys) rs760399050 0.00003
NM_002471.4(MYH6):c.3500A>C (p.Lys1167Thr) rs775248044 0.00003
NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys) rs769756450 0.00003
NM_002471.4(MYH6):c.3872G>A (p.Arg1291Gln) rs780178869 0.00003
NM_002471.4(MYH6):c.4141G>A (p.Ala1381Thr) rs753774406 0.00003
NM_002471.4(MYH6):c.4168G>A (p.Glu1390Lys) rs1475985417 0.00003
NM_002471.4(MYH6):c.4286A>T (p.Asp1429Val) rs755434984 0.00003
NM_002471.4(MYH6):c.467C>G (p.Ser156Cys) rs372298082 0.00003
NM_002471.4(MYH6):c.4704C>A (p.Asn1568Lys) rs149771264 0.00003
NM_002471.4(MYH6):c.4721T>A (p.Ile1574Asn) rs199627411 0.00003
NM_002471.4(MYH6):c.4750G>A (p.Glu1584Lys) rs1280321639 0.00003
NM_002471.4(MYH6):c.4768C>A (p.Arg1590Ser) rs544624250 0.00003
NM_002471.4(MYH6):c.4829G>A (p.Arg1610His) rs758792342 0.00003
NM_002471.4(MYH6):c.4985C>T (p.Ala1662Val) rs773445582 0.00003
NM_002471.4(MYH6):c.502+5G>A rs764301017 0.00003
NM_002471.4(MYH6):c.5101C>T (p.Arg1701Trp) rs765737102 0.00003
NM_002471.4(MYH6):c.5137G>A (p.Glu1713Lys) rs369275573 0.00003
NM_002471.4(MYH6):c.5267A>G (p.Lys1756Arg) rs746064687 0.00003
NM_002471.4(MYH6):c.5348G>A (p.Arg1783His) rs745473249 0.00003
NM_002471.4(MYH6):c.5524A>G (p.Met1842Val) rs754070802 0.00003
NM_002471.4(MYH6):c.5593C>T (p.Arg1865Trp) rs759499155 0.00003
NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu) rs730880152 0.00003
NM_002471.4(MYH6):c.635C>T (p.Ala212Val) rs780456381 0.00003
NM_002474.3(MYH11):c.3824G>T (p.Arg1275Leu) rs267606901 0.00003
NM_002474.3(MYH11):c.4372G>A (p.Ala1458Thr) rs775154820 0.00003
NM_002474.3(MYH11):c.5596G>A (p.Glu1866Lys) rs148743922 0.00003
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_002667.5(PLN):c.41G>T (p.Arg14Ile) rs151112761 0.00003
NM_002667.5(PLN):c.53T>C (p.Ile18Thr) rs1029766634 0.00003
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_002834.5(PTPN11):c.1642T>C (p.Ser548Pro) rs1057517907 0.00003
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu) rs376607329 0.00003
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr) rs397507528 0.00003
NM_002880.4(RAF1):c.1879C>T (p.Arg627Trp) rs730881005 0.00003
NM_002880.4(RAF1):c.428G>A (p.Arg143Gln) rs750697353 0.00003
NM_003098.3(SNTA1):c.776C>T (p.Ser259Leu) rs774643587 0.00003
NM_003098.3(SNTA1):c.817C>T (p.Pro273Ser) rs750459988 0.00003
NM_003476.5(CSRP3):c.-3A>C rs760384315 0.00003
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met) rs397516851 0.00003
NM_003476.5(CSRP3):c.214G>A (p.Gly72Arg) rs45552933 0.00003
NM_003476.5(CSRP3):c.256G>A (p.Glu86Lys) rs780917755 0.00003
NM_003476.5(CSRP3):c.287C>T (p.Pro96Leu) rs766783066 0.00003
NM_003476.5(CSRP3):c.352G>A (p.Glu118Lys) rs763096875 0.00003
NM_003476.5(CSRP3):c.568G>T (p.Val190Leu) rs145073736 0.00003
NM_003480.4(MFAP5):c.157G>A (p.Ala53Thr) rs576618912 0.00003
NM_003480.4(MFAP5):c.251G>A (p.Cys84Tyr) rs747879550 0.00003
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) rs775636212 0.00003
NM_003673.4(TCAP):c.70G>C (p.Glu24Gln) rs993261985 0.00003
NM_003803.4(MYOM1):c.1067A>G (p.Asn356Ser) rs773694035 0.00003
NM_003803.4(MYOM1):c.158C>T (p.Ala53Val) rs747035411 0.00003
NM_003803.4(MYOM1):c.3038C>T (p.Ala1013Val) rs557671408 0.00003
NM_004006.3(DMD):c.10951G>A (p.Asp3651Asn) rs766599250 0.00003
NM_004006.3(DMD):c.10955C>G (p.Thr3652Arg) rs1131691998 0.00003
NM_004006.3(DMD):c.1220T>C (p.Ile407Thr) rs200637510 0.00003
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys) rs758932385 0.00003
NM_004006.3(DMD):c.1586T>C (p.Leu529Ser) rs889238270 0.00003
NM_004006.3(DMD):c.1988C>T (p.Ala663Val) rs41309715 0.00003
NM_004006.3(DMD):c.2249T>C (p.Phe750Ser) rs377539940 0.00003
NM_004006.3(DMD):c.2323A>G (p.Arg775Gly) rs886038905 0.00003
NM_004006.3(DMD):c.2518C>G (p.Gln840Glu) rs398123892 0.00003
NM_004006.3(DMD):c.3028G>C (p.Ala1010Pro) rs766325631 0.00003
NM_004006.3(DMD):c.3175A>G (p.Thr1059Ala) rs763548540 0.00003
NM_004006.3(DMD):c.4046C>G (p.Ser1349Cys) rs763514033 0.00003
NM_004006.3(DMD):c.4049G>A (p.Arg1350His) rs750981128 0.00003
NM_004006.3(DMD):c.404A>G (p.Asn135Ser) rs764808552 0.00003
NM_004006.3(DMD):c.4283A>G (p.Lys1428Arg) rs371585389 0.00003
NM_004006.3(DMD):c.4483C>G (p.Gln1495Glu) rs748769566 0.00003
NM_004006.3(DMD):c.4563G>A (p.Met1521Ile) rs138984555 0.00003
NM_004006.3(DMD):c.5405A>G (p.Gln1802Arg) rs893536407 0.00003
NM_004006.3(DMD):c.5740-5A>G rs202014758 0.00003
NM_004006.3(DMD):c.6212G>A (p.Arg2071Lys) rs774825173 0.00003
NM_004006.3(DMD):c.6323G>A (p.Arg2108His) rs1291065884 0.00003
NM_004006.3(DMD):c.732C>T (p.Ser244=) rs756282849 0.00003
NM_004006.3(DMD):c.7722G>C (p.Gln2574His) rs368164231 0.00003
NM_004006.3(DMD):c.8234T>C (p.Ile2745Thr) rs367735348 0.00003
NM_004006.3(DMD):c.8677C>T (p.Pro2893Ser) rs756160145 0.00003
NM_004006.3(DMD):c.8828C>T (p.Thr2943Met) rs751810893 0.00003
NM_004006.3(DMD):c.8895T>A (p.Asp2965Glu) rs781748062 0.00003
NM_004100.5(EYA4):c.1523G>C (p.Arg508Thr) rs543789215 0.00003
NM_004100.5(EYA4):c.16G>A (p.Asp6Asn) rs1253239225 0.00003
NM_004100.5(EYA4):c.824C>G (p.Ala275Gly) rs748654006 0.00003
NM_004100.5(EYA4):c.848A>G (p.Gln283Arg) rs376151731 0.00003
NM_004100.5(EYA4):c.860C>T (p.Ala287Val) rs374522988 0.00003
NM_004100.5(EYA4):c.973G>A (p.Glu325Lys) rs1003638503 0.00003
NM_004281.4(BAG3):c.1028G>C (p.Arg343Pro) rs774085746 0.00003
NM_004281.4(BAG3):c.1264G>A (p.Val422Met) rs371476147 0.00003
NM_004281.4(BAG3):c.509G>A (p.Arg170Gln) rs140904592 0.00003
NM_004281.4(BAG3):c.781C>T (p.Arg261Trp) rs548032105 0.00003
NM_004281.4(BAG3):c.854C>T (p.Thr285Met) rs375650805 0.00003
NM_004281.4(BAG3):c.961C>T (p.Pro321Ser) rs376832654 0.00003
NM_004387.4(NKX2-5):c.356C>A (p.Ala119Glu) rs369025518 0.00003
NM_004387.4(NKX2-5):c.755C>T (p.Ala252Val) rs762090105 0.00003
NM_004387.4(NKX2-5):c.809G>A (p.Cys270Tyr) rs587782931 0.00003
NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly) rs751564052 0.00003
NM_004415.4(DSP):c.1103T>C (p.Ile368Thr) rs141163578 0.00003
NM_004415.4(DSP):c.2038G>A (p.Glu680Lys) rs1186943530 0.00003
NM_004415.4(DSP):c.2047G>A (p.Glu683Lys) rs775181391 0.00003
NM_004415.4(DSP):c.2546A>G (p.Tyr849Cys) rs778636665 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.4105G>A (p.Glu1369Lys) rs141805096 0.00003
NM_004415.4(DSP):c.4387G>A (p.Val1463Ile) rs948230523 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.5066T>C (p.Ile1689Thr) rs869025394 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.6062C>G (p.Ala2021Gly) rs760673242 0.00003
NM_004415.4(DSP):c.6187C>G (p.Arg2063Gly) rs374090050 0.00003
NM_004415.4(DSP):c.6248G>A (p.Arg2083His) rs574637009 0.00003
NM_004415.4(DSP):c.665G>A (p.Arg222Gln) rs377749481 0.00003
NM_004415.4(DSP):c.8401C>G (p.Arg2801Gly) rs760215987 0.00003
NM_004415.4(DSP):c.997A>G (p.Ser333Gly) rs773685575 0.00003
NM_004588.5(SCN2B):c.118G>A (p.Val40Ile) rs200761835 0.00003
NM_004588.5(SCN2B):c.410G>A (p.Arg137His) rs878854712 0.00003
NM_005120.3(MED12):c.6326A>C (p.Gln2109Pro) rs755793630 0.00003
NM_005188.4(CBL):c.1703C>T (p.Thr568Ile) rs762016318 0.00003
NM_005188.4(CBL):c.2666A>G (p.Lys889Arg) rs1369884955 0.00003
NM_005343.4(HRAS):c.505C>T (p.Arg169Trp) rs151229168 0.00003
NM_005472.5(KCNE3):c.304A>G (p.Met102Val) rs556647231 0.00003
NM_005472.5(KCNE3):c.95G>A (p.Arg32Gln) rs745645715 0.00003
NM_005477.3(HCN4):c.1005G>A (p.Met335Ile) rs758797709 0.00003
NM_005477.3(HCN4):c.1915G>A (p.Val639Met) rs563194186 0.00003
NM_005477.3(HCN4):c.2028C>A (p.Asp676Glu) rs1060500102 0.00003
NM_005477.3(HCN4):c.2801G>A (p.Arg934His) rs369485237 0.00003
NM_005477.3(HCN4):c.2830G>A (p.Ala944Thr) rs777648103 0.00003
NM_005477.3(HCN4):c.2839G>A (p.Gly947Arg) rs753524680 0.00003
NM_005477.3(HCN4):c.2990C>A (p.Pro997His) rs375788137 0.00003
NM_005477.3(HCN4):c.3229G>A (p.Gly1077Ser) rs746291340 0.00003
NM_005477.3(HCN4):c.3293C>T (p.Ala1098Val) rs1064797200 0.00003
NM_005477.3(HCN4):c.3371G>A (p.Gly1124Asp) rs981056449 0.00003
NM_005477.3(HCN4):c.3379G>A (p.Gly1127Arg) rs748279911 0.00003
NM_005633.4(SOS1):c.1558G>A (p.Asp520Asn) rs754115060 0.00003
NM_005633.4(SOS1):c.1672A>G (p.Met558Val) rs371295853 0.00003
NM_005633.4(SOS1):c.1988T>C (p.Ile663Thr) rs1048869073 0.00003
NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser) rs397517168 0.00003
NM_005633.4(SOS1):c.3802G>A (p.Gly1268Ser) rs730881051 0.00003
NM_005633.4(SOS1):c.3806C>G (p.Thr1269Arg) rs370528448 0.00003
NM_005633.4(SOS1):c.599C>G (p.Thr200Ser) rs143007609 0.00003
NM_005751.5(AKAP9):c.1034C>T (p.Thr345Ile) rs372425259 0.00003
NM_005751.5(AKAP9):c.10486G>A (p.Ala3496Thr) rs759219564 0.00003
NM_005751.5(AKAP9):c.1682C>T (p.Ala561Val) rs149162273 0.00003
NM_005751.5(AKAP9):c.1981A>C (p.Ile661Leu) rs961090757 0.00003
NM_005751.5(AKAP9):c.2324C>T (p.Ala775Val) rs751926047 0.00003
NM_005751.5(AKAP9):c.3083G>A (p.Ser1028Asn) rs551552300 0.00003
NM_005751.5(AKAP9):c.3932T>A (p.Met1311Lys) rs776582090 0.00003
NM_005751.5(AKAP9):c.4328A>T (p.Glu1443Val) rs773257553 0.00003
NM_005751.5(AKAP9):c.4331T>C (p.Val1444Ala) rs762794527 0.00003
NM_005751.5(AKAP9):c.4927A>G (p.Ile1643Val) rs141990258 0.00003
NM_005751.5(AKAP9):c.5368+4C>T rs759286117 0.00003
NM_005751.5(AKAP9):c.5639G>A (p.Arg1880His) rs770002854 0.00003
NM_005751.5(AKAP9):c.752T>G (p.Leu251Arg) rs748330070 0.00003
NM_005751.5(AKAP9):c.7775T>A (p.Leu2592Gln) rs754011064 0.00003
NM_005751.5(AKAP9):c.8074G>A (p.Glu2692Lys) rs749538379 0.00003
NM_005751.5(AKAP9):c.8613G>C (p.Leu2871Phe) rs780211536 0.00003
NM_005751.5(AKAP9):c.8833-3C>T rs746505983 0.00003
NM_005751.5(AKAP9):c.9140C>T (p.Thr3047Met) rs756203652 0.00003
NM_005751.5(AKAP9):c.9830T>C (p.Ile3277Thr) rs144021475 0.00003
NM_005751.5(AKAP9):c.9886T>A (p.Leu3296Ile) rs369263681 0.00003
NM_006073.4(TRDN):c.1019A>G (p.Glu340Gly) rs745751151 0.00003
NM_006073.4(TRDN):c.1420+1G>T rs1375657667 0.00003
NM_006073.4(TRDN):c.1601T>G (p.Ile534Arg) rs926868398 0.00003
NM_006073.4(TRDN):c.1651A>G (p.Thr551Ala) rs1304157111 0.00003
NM_006073.4(TRDN):c.1708A>G (p.Ile570Val) rs915231524 0.00003
NM_006073.4(TRDN):c.1733C>A (p.Pro578Gln) rs761240477 0.00003
NM_006073.4(TRDN):c.1783G>A (p.Asp595Asn) rs771170294 0.00003
NM_006073.4(TRDN):c.196G>T (p.Val66Phe) rs372169818 0.00003
NM_006073.4(TRDN):c.2143A>G (p.Ser715Gly) rs768748530 0.00003
NM_006073.4(TRDN):c.32C>T (p.Ser11Phe) rs760549842 0.00003
NM_006073.4(TRDN):c.46G>C (p.Val16Leu) rs974343553 0.00003
NM_006440.5(TXNRD2):c.1446G>T (p.Lys482Asn) rs371797598 0.00003
NM_006440.5(TXNRD2):c.1474C>T (p.Arg492Trp) rs146133764 0.00003
NM_006440.5(TXNRD2):c.1535G>A (p.Arg512His) rs375708279 0.00003
NM_006440.5(TXNRD2):c.544G>A (p.Asp182Asn) rs752857898 0.00003
NM_006440.5(TXNRD2):c.758T>C (p.Leu253Pro) rs773449032 0.00003
NM_006514.4(SCN10A):c.1196C>T (p.Ala399Val) rs371834396 0.00003
NM_006514.4(SCN10A):c.1454G>A (p.Arg485His) rs746690639 0.00003
NM_006514.4(SCN10A):c.1486A>G (p.Lys496Glu) rs755100226 0.00003
NM_006514.4(SCN10A):c.1534C>T (p.Arg512Ter) rs200714519 0.00003
NM_006514.4(SCN10A):c.1788G>T (p.Leu596Phe) rs764965507 0.00003
NM_006514.4(SCN10A):c.2282T>C (p.Leu761Pro) rs139988577 0.00003
NM_006514.4(SCN10A):c.2367C>A (p.Asn789Lys) rs770046573 0.00003
NM_006514.4(SCN10A):c.2465C>T (p.Ala822Val) rs747839312 0.00003
NM_006514.4(SCN10A):c.2485C>T (p.Arg829Cys) rs755974168 0.00003
NM_006514.4(SCN10A):c.2615C>T (p.Thr872Met) rs757355631 0.00003
NM_006514.4(SCN10A):c.2747G>A (p.Arg916Gln) rs267599804 0.00003
NM_006514.4(SCN10A):c.3061C>T (p.Gln1021Ter) rs751252167 0.00003
NM_006514.4(SCN10A):c.323G>A (p.Arg108Gln) rs141278729 0.00003
NM_006514.4(SCN10A):c.3778G>T (p.Ala1260Ser) rs779316495 0.00003
NM_006514.4(SCN10A):c.4112A>G (p.Asp1371Gly) rs376193439 0.00003
NM_006514.4(SCN10A):c.4164G>A (p.Trp1388Ter) rs756253735 0.00003
NM_006514.4(SCN10A):c.4294G>A (p.Asp1432Asn) rs760268052 0.00003
NM_006514.4(SCN10A):c.4573A>G (p.Met1525Val) rs373085099 0.00003
NM_006514.4(SCN10A):c.4857C>A (p.Phe1619Leu) rs767025015 0.00003
NM_006514.4(SCN10A):c.4915G>A (p.Asp1639Asn) rs368582725 0.00003
NM_006514.4(SCN10A):c.4976C>T (p.Thr1659Met) rs200761212 0.00003
NM_006514.4(SCN10A):c.5093G>T (p.Gly1698Val) rs201985536 0.00003
NM_006514.4(SCN10A):c.621T>A (p.Asp207Glu) rs377716847 0.00003
NM_006514.4(SCN10A):c.955T>A (p.Cys319Ser) rs199715855 0.00003
NM_006939.4(SOS2):c.1264G>A (p.Glu422Lys) rs375244948 0.00003
NM_006939.4(SOS2):c.260T>C (p.Ile87Thr) rs747274422 0.00003
NM_006939.4(SOS2):c.2978A>T (p.Asn993Ile) rs776000121 0.00003
NM_006939.4(SOS2):c.3814C>T (p.Arg1272Cys) rs1005498417 0.00003
NM_007078.3(LDB3):c.1165G>A (p.Ala389Thr) rs924634578 0.00003
NM_007078.3(LDB3):c.1453G>T (p.Ala485Ser) rs397517214 0.00003
NM_007078.3(LDB3):c.160G>A (p.Gly54Ser) rs201786090 0.00003
NM_007078.3(LDB3):c.2050G>A (p.Glu684Lys) rs754552434 0.00003
NM_007078.3(LDB3):c.398C>T (p.Pro133Leu) rs200239096 0.00003
NM_007078.3(LDB3):c.428G>A (p.Ser143Asn) rs201773873 0.00003
NM_007078.3(LDB3):c.724G>A (p.Ala242Thr) rs759790522 0.00003
NM_007078.3(LDB3):c.905T>C (p.Ile302Thr) rs777489502 0.00003
NM_007373.4(SHOC2):c.-1C>T rs398124252 0.00003
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe) rs536611911 0.00003
NM_012186.3(FOXE3):c.625G>C (p.Gly209Arg) rs1226906213 0.00003
NM_012186.3(FOXE3):c.629C>G (p.Pro210Arg) rs780276474 0.00003
NM_014000.3(VCL):c.1015C>T (p.Arg339Cys) rs759961842 0.00003
NM_014000.3(VCL):c.1039C>T (p.Pro347Ser) rs566961713 0.00003
NM_014000.3(VCL):c.1040C>T (p.Pro347Leu) rs148619523 0.00003
NM_014000.3(VCL):c.1247G>A (p.Arg416Gln) rs758811315 0.00003
NM_014000.3(VCL):c.1352+5G>A rs374522164 0.00003
NM_014000.3(VCL):c.1917G>T (p.Lys639Asn) rs915381122 0.00003
NM_014000.3(VCL):c.1940C>T (p.Ala647Val) rs534449109 0.00003
NM_014000.3(VCL):c.2006G>A (p.Arg669Gln) rs759771302 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.131A>G (p.Asp44Gly) rs749040843 0.00003
NM_014391.3(ANKRD1):c.154C>G (p.Pro52Ala) rs397517248 0.00003
NM_014391.3(ANKRD1):c.27+1G>T rs779910001 0.00003
NM_014391.3(ANKRD1):c.328C>T (p.Pro110Ser) rs200061926 0.00003
NM_014391.3(ANKRD1):c.388G>T (p.Glu130Ter) rs1048316962 0.00003
NM_014391.3(ANKRD1):c.776C>T (p.Ala259Val) rs866604612 0.00003
NM_014391.3(ANKRD1):c.905T>C (p.Ile302Thr) rs765966193 0.00003
NM_014391.3(ANKRD1):c.944G>C (p.Arg315Pro) rs746392266 0.00003
NM_014908.4(DOLK):c.1000A>T (p.Thr334Ser) rs762835635 0.00003
NM_014908.4(DOLK):c.1262T>C (p.Leu421Pro) rs145125254 0.00003
NM_014908.4(DOLK):c.412A>G (p.Thr138Ala) rs933514904 0.00003
NM_015141.4(GPD1L):c.11C>T (p.Ala4Val) rs201152084 0.00003
NM_015141.4(GPD1L):c.547C>G (p.Leu183Val) rs1376727184 0.00003
NM_015141.4(GPD1L):c.775G>A (p.Gly259Arg) rs146477959 0.00003
NM_015627.3(LDLRAP1):c.811G>A (p.Val271Ile) rs367832795 0.00003
NM_016599.5(MYOZ2):c.19A>G (p.Met7Val) rs746027670 0.00003
NM_016938.5(EFEMP2):c.1010G>A (p.Arg337Gln) rs755197148 0.00003
NM_016938.5(EFEMP2):c.1306G>A (p.Val436Ile) rs774228818 0.00003
NM_016938.5(EFEMP2):c.433G>A (p.Gly145Ser) rs369601362 0.00003
NM_016938.5(EFEMP2):c.565G>A (p.Glu189Lys) rs148940436 0.00003
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) rs544856644 0.00003
NM_017636.4(TRPM4):c.121C>T (p.Arg41Trp) rs1028746202 0.00003
NM_017636.4(TRPM4):c.1412C>T (p.Ser471Leu) rs772271815 0.00003
NM_017636.4(TRPM4):c.2129T>G (p.Phe710Cys) rs1177273600 0.00003
NM_017636.4(TRPM4):c.2778+1G>A rs756554490 0.00003
NM_017636.4(TRPM4):c.3386A>T (p.Lys1129Met) rs765449931 0.00003
NM_017636.4(TRPM4):c.3434C>G (p.Ser1145Cys) rs375682523 0.00003
NM_017636.4(TRPM4):c.3443T>C (p.Leu1148Pro) rs748665739 0.00003
NM_017636.4(TRPM4):c.3512G>A (p.Arg1171His) rs762615860 0.00003
NM_017636.4(TRPM4):c.3563G>T (p.Trp1188Leu) rs1064796865 0.00003
NM_017946.4(FKBP14):c.92T>C (p.Val31Ala) rs372805238 0.00003
NM_020297.4(ABCC9):c.1329G>A (p.Met443Ile) rs151197166 0.00003
NM_020297.4(ABCC9):c.2312C>T (p.Thr771Ile) rs180739851 0.00003
NM_020297.4(ABCC9):c.2857G>A (p.Glu953Lys) rs143685061 0.00003
NM_020297.4(ABCC9):c.2932C>A (p.Pro978Thr) rs376874273 0.00003
NM_020297.4(ABCC9):c.2983A>G (p.Ile995Val) rs374500043 0.00003
NM_020297.4(ABCC9):c.4512+693G>A rs876657737 0.00003
NM_020433.5(JPH2):c.1180G>A (p.Ala394Thr) rs372515066 0.00003
NM_020433.5(JPH2):c.1363C>T (p.Arg455Trp) rs767514641 0.00003
NM_020433.5(JPH2):c.1577C>T (p.Pro526Leu) rs756327822 0.00003
NM_020433.5(JPH2):c.1640C>T (p.Ala547Val) rs772283505 0.00003
NM_020433.5(JPH2):c.1720A>G (p.Thr574Ala) rs773306912 0.00003
NM_020433.5(JPH2):c.1858G>A (p.Ala620Thr) rs769284597 0.00003
NM_020433.5(JPH2):c.1867G>C (p.Glu623Gln) rs750828996 0.00003
NM_020433.5(JPH2):c.457G>A (p.Val153Met) rs747722861 0.00003
NM_020433.5(JPH2):c.77A>G (p.His26Arg) rs141664528 0.00003
NM_020433.5(JPH2):c.8G>A (p.Gly3Glu) rs746138065 0.00003
NM_020433.5(JPH2):c.943G>A (p.Glu315Lys) rs768672949 0.00003
NM_020778.4(ALPK3):c.314C>T (p.Thr105Met) rs1280728775 0.00003
NM_020778.5(ALPK3):c.1279A>T (p.Arg427Trp) rs771706498 0.00003
NM_020778.5(ALPK3):c.1709A>T (p.Asp570Val) rs200724501 0.00003
NM_020778.5(ALPK3):c.1828G>A (p.Val610Met) rs374911318 0.00003
NM_020778.5(ALPK3):c.2498A>G (p.Asp833Gly) rs761421251 0.00003
NM_020778.5(ALPK3):c.2615G>C (p.Gly872Ala) rs779766656 0.00003
NM_020778.5(ALPK3):c.298G>A (p.Val100Ile) rs535488179 0.00003
NM_020778.5(ALPK3):c.3104G>A (p.Cys1035Tyr) rs758388457 0.00003
NM_020778.5(ALPK3):c.3169G>A (p.Ala1057Thr) rs769870094 0.00003
NM_020778.5(ALPK3):c.3400G>A (p.Ala1134Thr) rs761129046 0.00003
NM_020778.5(ALPK3):c.3454C>G (p.Pro1152Ala) rs780056277 0.00003
NM_020778.5(ALPK3):c.3455C>T (p.Pro1152Leu) rs772625009 0.00003
NM_020778.5(ALPK3):c.3488C>T (p.Ala1163Val) rs755941827 0.00003
NM_020778.5(ALPK3):c.4224C>T (p.Ser1408=) rs773522765 0.00003
NM_020778.5(ALPK3):c.4436G>A (p.Arg1479Gln) rs759101150 0.00003
NM_020778.5(ALPK3):c.4723+5G>A rs771461497 0.00003
NM_020778.5(ALPK3):c.4910C>G (p.Ala1637Gly) rs769409719 0.00003
NM_020778.5(ALPK3):c.4920dup (p.Lys1641Ter) rs1338612539 0.00003
NM_020778.5(ALPK3):c.716C>T (p.Thr239Ile) rs559342068 0.00003
NM_020778.5(ALPK3):c.806T>C (p.Phe269Ser) rs975857797 0.00003
NM_020778.5(ALPK3):c.895G>A (p.Ala299Thr) rs115195927 0.00003
NM_021167.5(GATAD1):c.524A>G (p.Gln175Arg) rs145592666 0.00003
NM_021167.5(GATAD1):c.539A>T (p.Glu180Val) rs764831879 0.00003
NM_022436.3(ABCG5):c.1258G>A (p.Val420Ile) rs747481748 0.00003
NM_022437.3(ABCG8):c.1852G>A (p.Gly618Arg) rs200005264 0.00003
NM_022437.3(ABCG8):c.215A>T (p.Lys72Met) rs766529813 0.00003
NM_022437.3(ABCG8):c.863C>T (p.Ser288Phe) rs373586893 0.00003
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) rs369666163 0.00003
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro) rs936866997 0.00003
NM_024301.5(FKRP):c.43A>C (p.Thr15Pro) rs886042998 0.00003
NM_024301.5(FKRP):c.446G>A (p.Arg149His) rs1449983261 0.00003
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro) rs1318966349 0.00003
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys) rs201951207 0.00003
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser) rs959679901 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.748G>A (p.Gly250Ser) rs371797765 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.1019C>A (p.Thr340Asn) rs757065157 0.00003
NM_024422.6(DSC2):c.1537G>T (p.Asp513Tyr) rs373324195 0.00003
NM_024422.6(DSC2):c.2036A>G (p.His679Arg) rs145710244 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.818C>T (p.Pro273Leu) rs864622708 0.00003
NM_024422.6(DSC2):c.841A>G (p.Lys281Glu) rs373697870 0.00003
NM_030662.4(MAP2K2):c.217G>A (p.Glu73Lys) rs187018595 0.00003
NM_030662.4(MAP2K2):c.527C>T (p.Ala176Val) rs775661458 0.00003
NM_032578.4(MYPN):c.1013G>A (p.Arg338His) rs149852773 0.00003
NM_032578.4(MYPN):c.1564G>A (p.Gly522Ser) rs951303629 0.00003
NM_032578.4(MYPN):c.1724A>G (p.Lys575Arg) rs1346961662 0.00003
NM_032578.4(MYPN):c.194C>T (p.Ala65Val) rs147553723 0.00003
NM_032578.4(MYPN):c.2150C>T (p.Thr717Met) rs141276802 0.00003
NM_032578.4(MYPN):c.2164C>T (p.Arg722Trp) rs749716608 0.00003
NM_032578.4(MYPN):c.2644G>A (p.Ala882Thr) rs199476411 0.00003
NM_032578.4(MYPN):c.2654G>A (p.Arg885Gln) rs370657396 0.00003
NM_032578.4(MYPN):c.2881C>G (p.Pro961Ala) rs139996402 0.00003
NM_032578.4(MYPN):c.2972A>G (p.His991Arg) rs181021602 0.00003
NM_032578.4(MYPN):c.3125G>A (p.Arg1042His) rs140439935 0.00003
NM_032578.4(MYPN):c.3653G>A (p.Arg1218Lys) rs768630077 0.00003
NM_032578.4(MYPN):c.3837C>T (p.Pro1279=) rs774279751 0.00003
NM_032578.4(MYPN):c.3935G>A (p.Arg1312Gln) rs761812034 0.00003
NM_032578.4(MYPN):c.410G>C (p.Arg137Thr) rs765931465 0.00003
NM_032578.4(MYPN):c.890C>T (p.Pro297Leu) rs138187845 0.00003
NM_033337.3(CAV3):c.305C>T (p.Ala102Val) rs868638613 0.00003
NM_033337.3(CAV3):c.376C>T (p.Arg126Cys) rs776563500 0.00003
NM_033337.3(CAV3):c.433G>A (p.Val145Met) rs142475018 0.00003
NM_130468.4(CHST14):c.239G>A (p.Gly80Asp) rs371189136 0.00003
NM_144573.4(NEXN):c.1662A>G (p.Lys554=) rs752270974 0.00003
NM_144573.4(NEXN):c.1733G>C (p.Arg578Thr) rs374878979 0.00003
NM_144573.4(NEXN):c.1894G>C (p.Glu632Gln) rs370965740 0.00003
NM_144573.4(NEXN):c.379C>T (p.Arg127Cys) rs771113424 0.00003
NM_144573.4(NEXN):c.422G>A (p.Arg141His) rs761451693 0.00003
NM_144573.4(NEXN):c.634T>A (p.Tyr212Asn) rs769549962 0.00003
NM_144573.4(NEXN):c.817C>T (p.Arg273Cys) rs757571525 0.00003
NM_144573.4(NEXN):c.914A>G (p.Tyr305Cys) rs541547470 0.00003
NM_152594.3(SPRED1):c.-2A>T rs773950720 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_170707.4(LMNA):c.1007G>A (p.Arg336Gln) rs58105277 0.00003
NM_170707.4(LMNA):c.1256G>A (p.Arg419His) rs777648901 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.1756G>A (p.Val586Met) rs758048062 0.00003
NM_174934.4(SCN4B):c.199C>T (p.Arg67Trp) rs775614261 0.00003
NM_174936.4(PCSK9):c.1756A>G (p.Asn586Asp) rs146035580 0.00003
NM_174936.4(PCSK9):c.278G>A (p.Arg93His) rs763855534 0.00003
NM_181486.4(TBX5):c.1064G>A (p.Arg355His) rs145784562 0.00003
NM_181486.4(TBX5):c.293C>T (p.Thr98Met) rs772844823 0.00003
NM_201596.3(CACNB2):c.1580A>C (p.Lys527Thr) rs771565696 0.00003
NM_201596.3(CACNB2):c.1841G>A (p.Arg614Gln) rs367619172 0.00003
NM_201596.3(CACNB2):c.544A>G (p.Met182Val) rs775466397 0.00003
NM_000020.3(ACVRL1):c.208G>A (p.Gly70Arg) rs1439294840 0.00002
NM_000039.3(APOA1):c.127G>A (p.Val43Met) rs373545875 0.00002
NM_000039.3(APOA1):c.236C>T (p.Ser79Phe) rs1490305966 0.00002
NM_000039.3(APOA1):c.41C>T (p.Thr14Met) rs778560581 0.00002
NM_000088.4(COL1A1):c.1793G>A (p.Arg598Gln) rs757147791 0.00002
NM_000088.4(COL1A1):c.3680G>A (p.Arg1227His) rs543809032 0.00002
NM_000089.4(COL1A2):c.1404+4A>C rs369907691 0.00002
NM_000089.4(COL1A2):c.2330G>A (p.Arg777His) rs746187799 0.00002
NM_000089.4(COL1A2):c.2753A>G (p.Asn918Ser) rs201052196 0.00002
NM_000089.4(COL1A2):c.2959G>A (p.Val987Ile) rs752207083 0.00002
NM_000090.4(COL3A1):c.4073G>A (p.Arg1358Gln) rs745656610 0.00002
NM_000116.5(TAFAZZIN):c.13G>T (p.Val5Leu) rs397515737 0.00002
NM_000116.5(TAFAZZIN):c.331C>T (p.His111Tyr) rs200405157 0.00002
NM_000116.5(TAFAZZIN):c.468C>T (p.Gly156=) rs990648341 0.00002
NM_000116.5(TAFAZZIN):c.469G>A (p.Val157Ile) rs782173851 0.00002
NM_000116.5(TAFAZZIN):c.779T>G (p.Val260Gly) rs782746355 0.00002
NM_000117.3(EMD):c.148C>T (p.Pro50Ser) rs781936763 0.00002
NM_000117.3(EMD):c.572T>C (p.Met191Thr) rs782244432 0.00002
NM_000117.3(EMD):c.611G>A (p.Arg204His) rs782642152 0.00002
NM_000138.5(FBN1):c.467A>G (p.Asn156Ser) rs779490973 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser) rs774307734 0.00002
NM_000169.3(GLA):c.1181T>C (p.Leu394Pro) rs886044779 0.00002
NM_000169.3(GLA):c.122C>G (p.Thr41Ser) rs782362194 0.00002
NM_000169.3(GLA):c.192C>T (p.Ile64=) rs1555987080 0.00002
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00002
NM_000169.3(GLA):c.481G>A (p.Asp161Asn) rs1386622522 0.00002
NM_000169.3(GLA):c.593T>C (p.Ile198Thr) rs727503950 0.00002
NM_000169.3(GLA):c.991C>T (p.Leu331Phe) rs730880437 0.00002
NM_000214.3(JAG1):c.1321G>A (p.Gly441Ser) rs1327002160 0.00002
NM_000214.3(JAG1):c.1835A>G (p.Lys612Arg) rs750855317 0.00002
NM_000214.3(JAG1):c.2042C>T (p.Thr681Met) rs772675011 0.00002
NM_000214.3(JAG1):c.2087G>A (p.Gly696Glu) rs780243244 0.00002
NM_000214.3(JAG1):c.2498C>T (p.Ala833Val) rs141292792 0.00002
NM_000214.3(JAG1):c.34C>T (p.Arg12Cys) rs1452242699 0.00002
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys) rs758788135 0.00002
NM_000218.3(KCNQ1):c.1252G>A (p.Val418Ile) rs777347006 0.00002
NM_000218.3(KCNQ1):c.1621G>A (p.Val541Ile) rs199472796 0.00002
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000218.3(KCNQ1):c.187C>T (p.Pro63Ser) rs1280717988 0.00002
NM_000218.3(KCNQ1):c.1882G>A (p.Gly628Ser) rs745990205 0.00002
NM_000218.3(KCNQ1):c.1892C>G (p.Pro631Arg) rs1432436411 0.00002
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320 0.00002
NM_000218.3(KCNQ1):c.877C>T (p.Arg293Cys) rs199472737 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe) rs75610894 0.00002
NM_000219.6(KCNE1):c.273C>G (p.Asp91Glu) rs146614850 0.00002
NM_000219.6(KCNE1):c.314C>T (p.Ser105Leu) rs780041404 0.00002
NM_000237.3(LPL):c.248C>T (p.Thr83Met) rs372267210 0.00002
NM_000238.4(KCNH2):c.1189C>T (p.Arg397Cys) rs1060500663 0.00002
NM_000238.4(KCNH2):c.1459G>A (p.Gly487Ser) rs562875924 0.00002
NM_000238.4(KCNH2):c.1462C>T (p.Arg488Cys) rs281865155 0.00002
NM_000238.4(KCNH2):c.1742C>T (p.Ser581Leu) rs794728483 0.00002
NM_000238.4(KCNH2):c.2383G>A (p.Val795Ile) rs1002588450 0.00002
NM_000238.4(KCNH2):c.2641T>A (p.Phe881Ile) rs1197425750 0.00002
NM_000238.4(KCNH2):c.2648G>A (p.Arg883Gln) rs748821862 0.00002
NM_000238.4(KCNH2):c.3007G>A (p.Asp1003Asn) rs794728402 0.00002
NM_000238.4(KCNH2):c.3049G>T (p.Ala1017Ser) rs950543448 0.00002
NM_000238.4(KCNH2):c.3104G>A (p.Arg1035Gln) rs761933920 0.00002
NM_000238.4(KCNH2):c.3289G>A (p.Val1097Ile) rs199473030 0.00002
NM_000238.4(KCNH2):c.3457C>T (p.His1153Tyr) rs199473035 0.00002
NM_000238.4(KCNH2):c.398T>C (p.Met133Thr) rs794728353 0.00002
NM_000238.4(KCNH2):c.580G>A (p.Val194Met) rs1293129095 0.00002
NM_000238.4(KCNH2):c.983G>A (p.Arg328His) rs747437736 0.00002
NM_000256.3(MYBPC3):c.1123G>A (p.Val375Met) rs727503208 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.1454A>G (p.Lys485Arg) rs1185871136 0.00002
NM_000256.3(MYBPC3):c.1616T>C (p.Ile539Thr) rs1158024707 0.00002
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000256.3(MYBPC3):c.2148+3G>A rs368887584 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.2534G>A (p.Arg845His) rs730880568 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000256.3(MYBPC3):c.3103G>A (p.Ala1035Thr) rs552505566 0.00002
NM_000256.3(MYBPC3):c.3170C>T (p.Thr1057Met) rs754115924 0.00002
NM_000256.3(MYBPC3):c.3331G>A (p.Glu1111Lys) rs1331702727 0.00002
NM_000256.3(MYBPC3):c.3361C>T (p.Arg1121Cys) rs747738308 0.00002
NM_000256.3(MYBPC3):c.3683G>A (p.Arg1228His) rs528940575 0.00002
NM_000256.3(MYBPC3):c.49C>T (p.Arg17Trp) rs747857800 0.00002
NM_000256.3(MYBPC3):c.505G>A (p.Gly169Ser) rs886039212 0.00002
NM_000256.3(MYBPC3):c.596T>C (p.Leu199Pro) rs878853835 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.818G>A (p.Arg273His) rs376461745 0.00002
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr) rs121913640 0.00002
NM_000257.4(MYH7):c.1334C>T (p.Ala445Val) rs752349938 0.00002
NM_000257.4(MYH7):c.17T>C (p.Met6Thr) rs779276614 0.00002
NM_000257.4(MYH7):c.2420G>A (p.Arg807His) rs141414377 0.00002
NM_000257.4(MYH7):c.2916G>C (p.Glu972Asp) rs141191984 0.00002
NM_000257.4(MYH7):c.3035C>A (p.Ala1012Asp) rs779973529 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.3997C>G (p.Leu1333Val) rs940589674 0.00002
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097 0.00002
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_000257.4(MYH7):c.4170-5G>A rs755468667 0.00002
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647 0.00002
NM_000257.4(MYH7):c.4831G>T (p.Ala1611Ser) rs730880913 0.00002
NM_000257.4(MYH7):c.4996G>A (p.Asp1666Asn) rs747993770 0.00002
NM_000257.4(MYH7):c.5013C>G (p.Ile1671Met) rs779978846 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645 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.5704G>C (p.Glu1902Gln) rs187073962 0.00002
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu) rs727503277 0.00002
NM_000257.4(MYH7):c.706G>A (p.Val236Ile) rs397516261 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_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.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.1035C>T (p.Gly345=) rs764026969 0.00002
NM_000335.5(SCN5A):c.1579G>A (p.Gly527Arg) rs763550164 0.00002
NM_000335.5(SCN5A):c.157C>T (p.Arg53Trp) rs878859550 0.00002
NM_000335.5(SCN5A):c.158G>A (p.Arg53Gln) rs199473049 0.00002
NM_000335.5(SCN5A):c.1702C>T (p.Arg568Cys) rs45600438 0.00002
NM_000335.5(SCN5A):c.1975C>T (p.Arg659Trp) rs730880205 0.00002
NM_000335.5(SCN5A):c.2141T>C (p.Val714Ala) rs759036311 0.00002
NM_000335.5(SCN5A):c.2182G>A (p.Val728Ile) rs958480279 0.00002
NM_000335.5(SCN5A):c.2365G>A (p.Val789Ile) rs199473159 0.00002
NM_000335.5(SCN5A):c.23G>A (p.Arg8Gln) rs564261427 0.00002
NM_000335.5(SCN5A):c.280A>G (p.Ile94Val) rs202114798 0.00002
NM_000335.5(SCN5A):c.3067C>T (p.Arg1023Cys) rs745435760 0.00002
NM_000335.5(SCN5A):c.3121G>A (p.Asp1041Asn) rs45491996 0.00002
NM_000335.5(SCN5A):c.328G>A (p.Ala110Thr) rs730880202 0.00002
NM_000335.5(SCN5A):c.4168G>A (p.Gly1390Arg) rs780405533 0.00002
NM_000335.5(SCN5A):c.41G>A (p.Arg14His) rs1223977399 0.00002
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val) rs199473266 0.00002
NM_000335.5(SCN5A):c.4625T>C (p.Val1542Ala) rs551383710 0.00002
NM_000335.5(SCN5A):c.5213G>A (p.Arg1738Gln) rs200217157 0.00002
NM_000335.5(SCN5A):c.5326G>A (p.Val1776Met) rs199473314 0.00002
NM_000335.5(SCN5A):c.5735G>A (p.Arg1912His) rs199473327 0.00002
NM_000335.5(SCN5A):c.5783G>A (p.Arg1928His) rs727504822 0.00002
NM_000335.5(SCN5A):c.6031C>T (p.Arg2011Cys) rs199473640 0.00002
NM_000335.5(SCN5A):c.655C>T (p.Arg219Cys) rs762012668 0.00002
NM_000363.5(TNNI3):c.143A>C (p.Gln48Pro) rs200720341 0.00002
NM_000363.5(TNNI3):c.92C>T (p.Thr31Met) rs201928445 0.00002
NM_000371.4(TTR):c.-1G>C rs769343676 0.00002
NM_000371.4(TTR):c.-3A>G rs745422404 0.00002
NM_000371.4(TTR):c.209G>A (p.Ser70Asn) rs121918080 0.00002
NM_000371.4(TTR):c.439G>T (p.Glu147Ter) rs730881162 0.00002
NM_000384.3(APOB):c.10475T>C (p.Ile3492Thr) rs779283285 0.00002
NM_000384.3(APOB):c.1075A>G (p.Ser359Gly) rs757383498 0.00002
NM_000384.3(APOB):c.11087T>C (p.Ile3696Thr) rs370096275 0.00002
NM_000384.3(APOB):c.11243C>T (p.Thr3748Met) rs774799606 0.00002
NM_000384.3(APOB):c.11441C>A (p.Thr3814Asn) rs768822240 0.00002
NM_000384.3(APOB):c.1208C>T (p.Ala403Val) rs753112806 0.00002
NM_000384.3(APOB):c.12779A>G (p.His4260Arg) rs781061676 0.00002
NM_000384.3(APOB):c.12890G>A (p.Arg4297His) rs375701380 0.00002
NM_000384.3(APOB):c.13130T>C (p.Ile4377Thr) rs778174655 0.00002
NM_000384.3(APOB):c.1325T>G (p.Leu442Trp) rs1377752682 0.00002
NM_000384.3(APOB):c.13463T>C (p.Ile4488Thr) rs374389311 0.00002
NM_000384.3(APOB):c.13489T>C (p.Tyr4497His) rs751629013 0.00002
NM_000384.3(APOB):c.1595G>A (p.Arg532Gln) rs753831464 0.00002
NM_000384.3(APOB):c.2115T>G (p.Phe705Leu) rs747520197 0.00002
NM_000384.3(APOB):c.2585T>C (p.Val862Ala) rs145142090 0.00002
NM_000384.3(APOB):c.2593G>A (p.Glu865Lys) rs150005693 0.00002
NM_000384.3(APOB):c.3271A>G (p.Arg1091Gly) rs368122382 0.00002
NM_000384.3(APOB):c.3443T>A (p.Leu1148His) rs531341535 0.00002
NM_000384.3(APOB):c.3590T>C (p.Leu1197Pro) rs745670004 0.00002
NM_000384.3(APOB):c.4024A>G (p.Ile1342Val) rs780328279 0.00002
NM_000384.3(APOB):c.4850G>A (p.Gly1617Glu) rs146341569 0.00002
NM_000384.3(APOB):c.5189A>C (p.Lys1730Thr) rs764322440 0.00002
NM_000384.3(APOB):c.538G>T (p.Asp180Tyr) rs143959032 0.00002
NM_000384.3(APOB):c.544G>A (p.Val182Met) rs769838164 0.00002
NM_000384.3(APOB):c.5580G>T (p.Gln1860His) rs199585500 0.00002
NM_000384.3(APOB):c.5684T>C (p.Val1895Ala) rs149162499 0.00002
NM_000384.3(APOB):c.5882G>A (p.Ser1961Asn) rs974524838 0.00002
NM_000384.3(APOB):c.6001A>G (p.Thr2001Ala) rs140327327 0.00002
NM_000384.3(APOB):c.6070A>G (p.Ile2024Val) rs564588440 0.00002
NM_000384.3(APOB):c.6080C>A (p.Pro2027Gln) rs892830346 0.00002
NM_000384.3(APOB):c.698G>A (p.Arg233His) rs766724697 0.00002
NM_000384.3(APOB):c.7559G>A (p.Arg2520Gln) rs199852015 0.00002
NM_000384.3(APOB):c.8368G>A (p.Ala2790Thr) rs970988407 0.00002
NM_000384.3(APOB):c.8470C>G (p.Leu2824Val) rs757424322 0.00002
NM_000432.4(MYL2):c.163G>T (p.Ala55Ser) rs727504425 0.00002
NM_000432.4(MYL2):c.256T>C (p.Phe86Leu) rs765287559 0.00002
NM_000432.4(MYL2):c.366G>T (p.Met122Ile) rs374439285 0.00002
NM_000432.4(MYL2):c.380C>T (p.Ala127Val) rs141878747 0.00002
NM_000432.4(MYL2):c.436G>A (p.Val146Met) rs370075755 0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val) rs875989924 0.00002
NM_000527.5(LDLR):c.1733T>C (p.Val578Ala) rs72658864 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.2301G>A (p.Met767Ile) rs149237737 0.00002
NM_000527.5(LDLR):c.2552A>G (p.Gln851Arg) rs372328061 0.00002
NM_000719.7(CACNA1C):c.1342G>A (p.Asp448Asn) rs786205746 0.00002
NM_000719.7(CACNA1C):c.1723A>T (p.Met575Leu) rs1157777158 0.00002
NM_000719.7(CACNA1C):c.2795T>C (p.Ile932Thr) rs786205756 0.00002
NM_000719.7(CACNA1C):c.3424A>C (p.Ile1142Leu) rs752247655 0.00002
NM_000719.7(CACNA1C):c.408C>T (p.Ala136=) rs769295096 0.00002
NM_000719.7(CACNA1C):c.460G>A (p.Ala154Thr) rs1064796583 0.00002
NM_000719.7(CACNA1C):c.4726+3A>G rs982682310 0.00002
NM_000719.7(CACNA1C):c.5065G>A (p.Ala1689Thr) rs368700869 0.00002
NM_000719.7(CACNA1C):c.512C>T (p.Thr171Met) rs199586997 0.00002
NM_000719.7(CACNA1C):c.5398C>T (p.Pro1800Ser) rs921032597 0.00002
NM_000719.7(CACNA1C):c.5576T>C (p.Leu1859Pro) rs566778414 0.00002
NM_000719.7(CACNA1C):c.5684G>A (p.Arg1895Gln) rs753954220 0.00002
NM_000719.7(CACNA1C):c.5906T>C (p.Val1969Ala) rs1298514198 0.00002
NM_000719.7(CACNA1C):c.5996C>T (p.Thr1999Ile) rs532551057 0.00002
NM_000719.7(CACNA1C):c.70C>T (p.Arg24Cys) rs773211348 0.00002
NM_000719.7(CACNA1C):c.989C>T (p.Thr330Met) rs377345545 0.00002
NM_000722.4(CACNA2D1):c.688C>T (p.Pro230Ser) rs1461155317 0.00002
NM_000784.4(CYP27A1):c.1494G>C (p.Lys498Asn) rs377290147 0.00002
NM_000784.4(CYP27A1):c.563G>A (p.Arg188Gln) rs754310499 0.00002
NM_000890.5(KCNJ5):c.1186G>A (p.Ala396Thr) rs754816201 0.00002
NM_000890.5(KCNJ5):c.1190A>G (p.Glu397Gly) rs780934792 0.00002
NM_000890.5(KCNJ5):c.148C>T (p.Arg50Cys) rs781011854 0.00002
NM_000890.5(KCNJ5):c.155G>A (p.Arg52His) rs144062083 0.00002
NM_000890.5(KCNJ5):c.260G>A (p.Arg87His) rs747951700 0.00002
NM_000890.5(KCNJ5):c.274G>A (p.Val92Ile) rs749202931 0.00002
NM_000890.5(KCNJ5):c.449T>C (p.Ile150Thr) rs1232257803 0.00002
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn) rs140053197 0.00002
NM_001005242.3(PKP2):c.1127T>C (p.Phe376Ser) rs56869013 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.1610G>A (p.Gly537Glu) rs866789949 0.00002
NM_001005242.3(PKP2):c.1820G>A (p.Arg607Gln) rs763648594 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.2234T>C (p.Ile745Thr) rs543233804 0.00002
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met) rs146118033 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.68G>A (p.Gly23Glu) rs746530389 0.00002
NM_001005242.3(PKP2):c.976G>A (p.Ala326Thr) rs148480056 0.00002
NM_001018005.2(TPM1):c.564-5A>G rs550286836 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001035.3(RYR2):c.10360C>T (p.Arg3454Cys) rs773252606 0.00002
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln) rs748805290 0.00002
NM_001035.3(RYR2):c.10708C>T (p.Arg3570Trp) rs765835441 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.12160A>G (p.Ser4054Gly) rs376781046 0.00002
NM_001035.3(RYR2):c.13195A>G (p.Asn4399Asp) rs764884250 0.00002
NM_001035.3(RYR2):c.13563+4C>T rs926460699 0.00002
NM_001035.3(RYR2):c.13712C>T (p.Thr4571Met) rs200803276 0.00002
NM_001035.3(RYR2):c.1476+3C>T rs1387762631 0.00002
NM_001035.3(RYR2):c.1675A>G (p.Ile559Val) rs773609522 0.00002
NM_001035.3(RYR2):c.2506C>A (p.His836Asn) rs760544949 0.00002
NM_001035.3(RYR2):c.2615T>C (p.Ile872Thr) rs749607906 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.36G>C (p.Gln12His) rs746811389 0.00002
NM_001035.3(RYR2):c.4148G>A (p.Arg1383His) rs752124839 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.4603C>T (p.Pro1535Ser) rs1376021262 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.5917A>G (p.Ile1973Val) rs780681855 0.00002
NM_001035.3(RYR2):c.6013A>G (p.Thr2005Ala) rs373235823 0.00002
NM_001035.3(RYR2):c.6284T>C (p.Ile2095Thr) rs142498105 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.8407C>T (p.Arg2803Trp) rs754674622 0.00002
NM_001035.3(RYR2):c.8449G>A (p.Ala2817Thr) rs527576067 0.00002
NM_001035.3(RYR2):c.8749A>G (p.Ile2917Val) rs981753891 0.00002
NM_001035.3(RYR2):c.9085A>G (p.Ile3029Val) rs370141970 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_001037.5(SCN1B):c.472G>C (p.Val158Leu) rs138450474 0.00002
NM_001037.5(SCN1B):c.590C>T (p.Ala197Val) rs554201948 0.00002
NM_001037.5(SCN1B):c.623A>T (p.Lys208Ile) rs780958012 0.00002
NM_001037.5(SCN1B):c.638G>A (p.Gly213Asp) rs201209882 0.00002
NM_001040151.2(SCN3B):c.232C>T (p.Arg78Trp) rs764587765 0.00002
NM_001040151.2(SCN3B):c.233G>A (p.Arg78Gln) rs375545539 0.00002
NM_001040151.2(SCN3B):c.394C>T (p.Arg132Trp) rs371558196 0.00002
NM_001040151.2(SCN3B):c.55+3A>G rs767074394 0.00002
NM_001040151.2(SCN3B):c.59G>A (p.Ser20Asn) rs779277447 0.00002
NM_001040151.2(SCN3B):c.614A>G (p.Asn205Ser) rs781244975 0.00002
NM_001077653.2(TBX20):c.971T>C (p.Leu324Ser) rs1434256200 0.00002
NM_001079802.2(FKTN):c.1046T>C (p.Val349Ala) rs539089647 0.00002
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998 0.00002
NM_001079802.2(FKTN):c.188T>C (p.Met63Thr) rs772840681 0.00002
NM_001103.4(ACTN2):c.1046A>T (p.Gln349Leu) rs376335356 0.00002
NM_001103.4(ACTN2):c.1081A>G (p.Met361Val) rs368409665 0.00002
NM_001103.4(ACTN2):c.1108-3C>T rs372488913 0.00002
NM_001103.4(ACTN2):c.1172A>G (p.Asn391Ser) rs547711260 0.00002
NM_001103.4(ACTN2):c.1594A>T (p.Met532Leu) rs200969588 0.00002
NM_001103.4(ACTN2):c.1708G>A (p.Gly570Arg) rs373132971 0.00002
NM_001103.4(ACTN2):c.1822C>T (p.Arg608Trp) rs397516571 0.00002
NM_001103.4(ACTN2):c.1918C>T (p.Arg640Cys) rs769453411 0.00002
NM_001103.4(ACTN2):c.2108A>T (p.Gln703Leu) rs370862426 0.00002
NM_001103.4(ACTN2):c.2138C>T (p.Thr713Met) rs764538888 0.00002
NM_001103.4(ACTN2):c.2154+4C>T rs1342624709 0.00002
NM_001103.4(ACTN2):c.2154+5G>A rs767655336 0.00002
NM_001103.4(ACTN2):c.2231C>T (p.Thr744Met) rs765747662 0.00002
NM_001103.4(ACTN2):c.2377G>A (p.Glu793Lys) rs145450474 0.00002
NM_001103.4(ACTN2):c.265C>T (p.Arg89Trp) rs369629689 0.00002
NM_001103.4(ACTN2):c.419G>A (p.Arg140His) rs370689695 0.00002
NM_001103.4(ACTN2):c.59T>C (p.Met20Thr) rs776456711 0.00002
NM_001103.4(ACTN2):c.646A>G (p.Met216Val) rs749019847 0.00002
NM_001103.4(ACTN2):c.703G>A (p.Val235Met) rs754929573 0.00002
NM_001103.4(ACTN2):c.745G>A (p.Val249Ile) rs771260546 0.00002
NM_001103.4(ACTN2):c.767T>C (p.Phe256Ser) rs1337069615 0.00002
NM_001103.4(ACTN2):c.895C>T (p.Arg299Cys) rs779109533 0.00002
NM_001103.4(ACTN2):c.920G>A (p.Arg307Gln) rs112882610 0.00002
NM_001103.4(ACTN2):c.979C>T (p.Arg327Cys) rs769485633 0.00002
NM_001105206.3(LAMA4):c.1077+4C>T rs1192025877 0.00002
NM_001105206.3(LAMA4):c.1813A>G (p.Ser605Gly) rs112884471 0.00002
NM_001105206.3(LAMA4):c.1961C>T (p.Ala654Val) rs782806847 0.00002
NM_001105206.3(LAMA4):c.2054C>T (p.Ser685Phe) rs369776441 0.00002
NM_001105206.3(LAMA4):c.2225A>G (p.Asn742Ser) rs374279330 0.00002
NM_001105206.3(LAMA4):c.247G>A (p.Asp83Asn) rs531319918 0.00002
NM_001105206.3(LAMA4):c.2603C>G (p.Pro868Arg) rs368543835 0.00002
NM_001105206.3(LAMA4):c.2906A>G (p.Asp969Gly) rs1554332964 0.00002
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) rs372615994 0.00002
NM_001105206.3(LAMA4):c.3277A>G (p.Asn1093Asp) rs782550866 0.00002
NM_001105206.3(LAMA4):c.3436G>A (p.Asp1146Asn) rs782492885 0.00002
NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu) rs730880123 0.00002
NM_001105206.3(LAMA4):c.3557+4A>G rs781832125 0.00002
NM_001105206.3(LAMA4):c.4134-1G>A rs886039116 0.00002
NM_001105206.3(LAMA4):c.4972G>A (p.Val1658Met) rs149555058 0.00002
NM_001105206.3(LAMA4):c.5440G>A (p.Ala1814Thr) rs1048588170 0.00002
NM_001114753.3(ENG):c.338G>A (p.Gly113Glu) rs1169024767 0.00002
NM_001134363.3(RBM20):c.1201G>A (p.Asp401Asn) rs950210735 0.00002
NM_001134363.3(RBM20):c.1338-1G>T rs1265727354 0.00002
NM_001134363.3(RBM20):c.1459G>A (p.Val487Met) rs397516595 0.00002
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp) rs767827357 0.00002
NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter) rs794729150 0.00002
NM_001134363.3(RBM20):c.2107A>G (p.Arg703Gly) rs899167549 0.00002
NM_001134363.3(RBM20):c.2225C>G (p.Ser742Cys) rs985340296 0.00002
NM_001134363.3(RBM20):c.2263C>T (p.Arg755Cys) rs770910910 0.00002
NM_001134363.3(RBM20):c.2968A>G (p.Ser990Gly) rs1353948871 0.00002
NM_001134363.3(RBM20):c.3046G>A (p.Gly1016Ser) rs794729156 0.00002
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser) rs1479765434 0.00002
NM_001134363.3(RBM20):c.3463G>A (p.Val1155Met) rs1473408518 0.00002
NM_001134363.3(RBM20):c.3464T>C (p.Val1155Ala) rs794729158 0.00002
NM_001134363.3(RBM20):c.36C>A (p.Asp12Glu) rs573426783 0.00002
NM_001134363.3(RBM20):c.419C>T (p.Pro140Leu) rs977645949 0.00002
NM_001134363.3(RBM20):c.487C>T (p.Arg163Trp) rs1458326422 0.00002
NM_001134363.3(RBM20):c.83G>A (p.Gly28Asp) rs1466787506 0.00002
NM_001148.6(ANK2):c.11039C>T (p.Ser3680Leu) rs761223564 0.00002
NM_001148.6(ANK2):c.11134G>A (p.Val3712Ile) rs146476345 0.00002
NM_001148.6(ANK2):c.11225C>T (p.Pro3742Leu) rs753748906 0.00002
NM_001148.6(ANK2):c.11326A>G (p.Thr3776Ala) rs746620876 0.00002
NM_001148.6(ANK2):c.11573C>T (p.Thr3858Ile) rs151338825 0.00002
NM_001148.6(ANK2):c.11717G>A (p.Arg3906Gln) rs770001324 0.00002
NM_001148.6(ANK2):c.1613C>T (p.Ala538Val) rs753139159 0.00002
NM_001148.6(ANK2):c.1627G>A (p.Val543Met) rs749734339 0.00002
NM_001148.6(ANK2):c.1667A>G (p.His556Arg) rs749342854 0.00002
NM_001148.6(ANK2):c.2160T>A (p.Asp720Glu) rs748835902 0.00002
NM_001148.6(ANK2):c.2266G>A (p.Ala756Thr) rs368809372 0.00002
NM_001148.6(ANK2):c.2384A>C (p.Asn795Thr) rs769106499 0.00002
NM_001148.6(ANK2):c.2479A>G (p.Ile827Val) rs750428090 0.00002
NM_001148.6(ANK2):c.2557A>C (p.Thr853Pro) rs1178600130 0.00002
NM_001148.6(ANK2):c.2969G>A (p.Arg990Gln) rs373261456 0.00002
NM_001148.6(ANK2):c.2980C>A (p.Pro994Thr) rs928622061 0.00002
NM_001148.6(ANK2):c.3373G>C (p.Asp1125His) rs1043468981 0.00002
NM_001148.6(ANK2):c.3652C>T (p.Pro1218Ser) rs754740031 0.00002
NM_001148.6(ANK2):c.3949G>A (p.Val1317Ile) rs146261470 0.00002
NM_001148.6(ANK2):c.4252C>T (p.Arg1418Cys) rs749093363 0.00002
NM_001148.6(ANK2):c.4618G>C (p.Ala1540Pro) rs767390750 0.00002
NM_001148.6(ANK2):c.533C>T (p.Ala178Val) rs901601971 0.00002
NM_001148.6(ANK2):c.5515A>C (p.Thr1839Pro) rs763795429 0.00002
NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys) rs147547363 0.00002
NM_001148.6(ANK2):c.6747C>A (p.Phe2249Leu) rs2095685965 0.00002
NM_001148.6(ANK2):c.7142C>A (p.Ala2381Asp) rs764841248 0.00002
NM_001148.6(ANK2):c.7244G>A (p.Ser2415Asn) rs749832637 0.00002
NM_001148.6(ANK2):c.7283C>T (p.Ser2428Leu) rs772544901 0.00002
NM_001148.6(ANK2):c.764G>A (p.Arg255Gln) rs764008198 0.00002
NM_001148.6(ANK2):c.8551C>T (p.Pro2851Ser) rs137856530 0.00002
NM_001148.6(ANK2):c.8989T>C (p.Ser2997Pro) rs1213001504 0.00002
NM_001148.6(ANK2):c.9136A>T (p.Ser3046Cys) rs1554567603 0.00002
NM_001159699.2(FHL1):c.247C>T (p.Arg83Cys) rs1379221574 0.00002
NM_001159699.2(FHL1):c.644G>A (p.Arg215His) rs886043053 0.00002
NM_001159699.2(FHL1):c.809A>G (p.Lys270Arg) rs768705041 0.00002
NM_001232.4(CASQ2):c.1046A>T (p.Asp349Val) rs372865933 0.00002
NM_001232.4(CASQ2):c.234+2T>C rs757789935 0.00002
NM_001232.4(CASQ2):c.44C>G (p.Ser15Cys) rs185539994 0.00002
NM_001232.4(CASQ2):c.478C>T (p.Arg160Cys) rs750680032 0.00002
NM_001232.4(CASQ2):c.479G>A (p.Arg160His) rs372283956 0.00002
NM_001232.4(CASQ2):c.633G>T (p.Met211Ile) rs377762175 0.00002
NM_001232.4(CASQ2):c.673A>G (p.Ile225Val) rs774546117 0.00002
NM_001232.4(CASQ2):c.893A>G (p.Asn298Ser) rs548536938 0.00002
NM_001267550.2(TTN):c.100117G>A (p.Gly33373Ser) rs55880786 0.00002
NM_001267550.2(TTN):c.100859G>C (p.Ser33620Thr) rs369261182 0.00002
NM_001267550.2(TTN):c.101159A>G (p.Lys33720Arg) rs727503535 0.00002
NM_001267550.2(TTN):c.101536A>G (p.Met33846Val) rs565546848 0.00002
NM_001267550.2(TTN):c.103939T>C (p.Tyr34647His) rs561869617 0.00002
NM_001267550.2(TTN):c.104315A>G (p.Glu34772Gly) rs766674127 0.00002
NM_001267550.2(TTN):c.104539T>C (p.Tyr34847His) rs794729565 0.00002
NM_001267550.2(TTN):c.104648G>A (p.Arg34883His) rs368063908 0.00002
NM_001267550.2(TTN):c.104914G>A (p.Glu34972Lys) rs727504918 0.00002
NM_001267550.2(TTN):c.105227C>T (p.Ser35076Leu) rs747940468 0.00002
NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg) rs776981475 0.00002
NM_001267550.2(TTN):c.11567A>G (p.Asn3856Ser) rs765523683 0.00002
NM_001267550.2(TTN):c.12743A>C (p.Gln4248Pro) rs770583611 0.00002
NM_001267550.2(TTN):c.14306A>T (p.Glu4769Val) rs763092484 0.00002
NM_001267550.2(TTN):c.2306T>C (p.Ile769Thr) rs979110143 0.00002
NM_001267550.2(TTN):c.26377A>G (p.Thr8793Ala) rs776154251 0.00002
NM_001267550.2(TTN):c.296-5C>T rs374923808 0.00002
NM_001267550.2(TTN):c.2996G>A (p.Arg999His) rs371757623 0.00002
NM_001267550.2(TTN):c.3899A>G (p.Tyr1300Cys) rs188090472 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.42157G>A (p.Glu14053Lys) rs759050071 0.00002
NM_001267550.2(TTN):c.42473C>T (p.Thr14158Ile) rs373227762 0.00002
NM_001267550.2(TTN):c.427G>A (p.Glu143Lys) rs754182768 0.00002
NM_001267550.2(TTN):c.43120A>G (p.Ile14374Val) rs754227553 0.00002
NM_001267550.2(TTN):c.44530G>A (p.Ala14844Thr) rs772053966 0.00002
NM_001267550.2(TTN):c.45725G>A (p.Arg15242Lys) rs140795503 0.00002
NM_001267550.2(TTN):c.46409G>A (p.Arg15470His) rs769044716 0.00002
NM_001267550.2(TTN):c.47429C>T (p.Thr15810Ile) rs748816848 0.00002
NM_001267550.2(TTN):c.4889C>T (p.Ala1630Val) rs371601918 0.00002
NM_001267550.2(TTN):c.49060C>T (p.Pro16354Ser) rs747402071 0.00002
NM_001267550.2(TTN):c.49213G>A (p.Val16405Ile) rs570644860 0.00002
NM_001267550.2(TTN):c.50151G>C (p.Glu16717Asp) rs369623681 0.00002
NM_001267550.2(TTN):c.51500C>T (p.Thr17167Ile) rs749322226 0.00002
NM_001267550.2(TTN):c.52406-2A>C rs753798236 0.00002
NM_001267550.2(TTN):c.54142T>C (p.Ser18048Pro) rs878999356 0.00002
NM_001267550.2(TTN):c.54578A>G (p.Asn18193Ser) rs777505893 0.00002
NM_001267550.2(TTN):c.58137C>T (p.Cys19379=) rs376310289 0.00002
NM_001267550.2(TTN):c.59876G>A (p.Arg19959His) rs748120315 0.00002
NM_001267550.2(TTN):c.60491T>A (p.Val20164Glu) rs794729467 0.00002
NM_001267550.2(TTN):c.60874T>C (p.Trp20292Arg) rs748357485 0.00002
NM_001267550.2(TTN):c.61815A>G (p.Ile20605Met) rs761374262 0.00002
NM_001267550.2(TTN):c.61825C>T (p.Arg20609Cys) rs786205389 0.00002
NM_001267550.2(TTN):c.62651G>T (p.Cys20884Phe) rs773806020 0.00002
NM_001267550.2(TTN):c.626C>T (p.Ser209Leu) rs372632047 0.00002
NM_001267550.2(TTN):c.62995T>G (p.Phe20999Val) rs568886353 0.00002
NM_001267550.2(TTN):c.63558G>A (p.Val21186=) rs200261892 0.00002
NM_001267550.2(TTN):c.63896C>T (p.Thr21299Ile) rs1031526299 0.00002
NM_001267550.2(TTN):c.64687C>G (p.Pro21563Ala) rs72646860 0.00002
NM_001267550.2(TTN):c.64720G>A (p.Ala21574Thr) rs578085621 0.00002
NM_001267550.2(TTN):c.64816G>C (p.Asp21606His) rs751046367 0.00002
NM_001267550.2(TTN):c.65300T>C (p.Ile21767Thr) rs762578274 0.00002
NM_001267550.2(TTN):c.65920A>G (p.Met21974Val) rs370691527 0.00002
NM_001267550.2(TTN):c.66118G>A (p.Asp22040Asn) rs560375322 0.00002
NM_001267550.2(TTN):c.66815T>C (p.Ile22272Thr) rs773998250 0.00002
NM_001267550.2(TTN):c.66902A>G (p.Asn22301Ser) rs772823241 0.00002
NM_001267550.2(TTN):c.66940G>T (p.Asp22314Tyr) rs768380109 0.00002
NM_001267550.2(TTN):c.67318G>A (p.Gly22440Ser) rs727503576 0.00002
NM_001267550.2(TTN):c.67496G>A (p.Arg22499Gln) rs767993624 0.00002
NM_001267550.2(TTN):c.6773C>T (p.Ala2258Val) rs72647881 0.00002
NM_001267550.2(TTN):c.67792A>C (p.Ser22598Arg) rs775579156 0.00002
NM_001267550.2(TTN):c.68818G>A (p.Glu22940Lys) rs1443126035 0.00002
NM_001267550.2(TTN):c.6923C>A (p.Ser2308Tyr) rs577966527 0.00002
NM_001267550.2(TTN):c.6949C>T (p.Arg2317Cys) rs750101152 0.00002
NM_001267550.2(TTN):c.70396C>T (p.Arg23466Cys) rs749744742 0.00002
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp) rs760509116 0.00002
NM_001267550.2(TTN):c.70485A>T (p.Lys23495Asn) rs1482776876 0.00002
NM_001267550.2(TTN):c.7057+2dup rs765019023 0.00002
NM_001267550.2(TTN):c.71608G>A (p.Gly23870Ser) rs727503564 0.00002
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile) rs752648041 0.00002
NM_001267550.2(TTN):c.71903A>C (p.Asn23968Thr) rs769320596 0.00002
NM_001267550.2(TTN):c.74378C>T (p.Ser24793Leu) rs766741890 0.00002
NM_001267550.2(TTN):c.74533A>C (p.Ile24845Leu) rs1214451388 0.00002
NM_001267550.2(TTN):c.77470C>T (p.Arg25824Cys) rs778684474 0.00002
NM_001267550.2(TTN):c.77471G>A (p.Arg25824His) rs376051922 0.00002
NM_001267550.2(TTN):c.78286G>A (p.Glu26096Lys) rs370515843 0.00002
NM_001267550.2(TTN):c.79103G>T (p.Gly26368Val) rs371325635 0.00002
NM_001267550.2(TTN):c.79213G>A (p.Val26405Ile) rs769972835 0.00002
NM_001267550.2(TTN):c.80858C>T (p.Thr26953Met) rs377506142 0.00002
NM_001267550.2(TTN):c.81029T>C (p.Val27010Ala) rs369235214 0.00002
NM_001267550.2(TTN):c.81911T>C (p.Ile27304Thr) rs753976208 0.00002
NM_001267550.2(TTN):c.82583G>A (p.Arg27528Gln) rs765230578 0.00002
NM_001267550.2(TTN):c.83198T>C (p.Ile27733Thr) rs759928014 0.00002
NM_001267550.2(TTN):c.8374G>A (p.Val2792Met) rs79645147 0.00002
NM_001267550.2(TTN):c.83785G>A (p.Gly27929Arg) rs786205297 0.00002
NM_001267550.2(TTN):c.8509A>T (p.Ser2837Cys) rs202024134 0.00002
NM_001267550.2(TTN):c.85268G>A (p.Arg28423Gln) rs747851682 0.00002
NM_001267550.2(TTN):c.85309G>A (p.Gly28437Ser) rs757770952 0.00002
NM_001267550.2(TTN):c.85315C>T (p.Arg28439Trp) rs757653038 0.00002
NM_001267550.2(TTN):c.87041G>A (p.Arg29014Gln) rs772536290 0.00002
NM_001267550.2(TTN):c.87341G>A (p.Arg29114Lys) rs1253866874 0.00002
NM_001267550.2(TTN):c.88406C>T (p.Ala29469Val) rs397517740 0.00002
NM_001267550.2(TTN):c.88819C>T (p.Arg29607Trp) rs781330566 0.00002
NM_001267550.2(TTN):c.8902C>T (p.Pro2968Ser) rs773875566 0.00002
NM_001267550.2(TTN):c.89735T>C (p.Leu29912Pro) rs748326514 0.00002
NM_001267550.2(TTN):c.91304C>T (p.Thr30435Ile) rs1060500591 0.00002
NM_001267550.2(TTN):c.9306-4A>G rs757164431 0.00002
NM_001267550.2(TTN):c.93167G>A (p.Arg31056Gln) rs201377736 0.00002
NM_001267550.2(TTN):c.93266G>A (p.Arg31089His) rs367993101 0.00002
NM_001267550.2(TTN):c.9472G>T (p.Val3158Phe) rs748114137 0.00002
NM_001267550.2(TTN):c.94817G>A (p.Arg31606Gln) rs371840978 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.96604G>T (p.Val32202Leu) rs755717335 0.00002
NM_001267550.2(TTN):c.98453G>A (p.Arg32818Lys) rs794729551 0.00002
NM_001267550.2(TTN):c.98806C>T (p.Arg32936Cys) rs764276622 0.00002
NM_001267550.2(TTN):c.99115C>G (p.Gln33039Glu) rs775875875 0.00002
NM_001267550.2(TTN):c.99254G>A (p.Arg33085His) rs777035261 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_001289808.2(CRYAB):c.301C>A (p.His101Asn) rs1029108489 0.00002
NM_001289808.2(CRYAB):c.325-2A>G rs202024436 0.00002
NM_001289808.2(CRYAB):c.373C>T (p.Pro125Ser) rs374661019 0.00002
NM_001289808.2(CRYAB):c.85G>C (p.Gly29Arg) rs148500053 0.00002
NM_001308093.3(GATA4):c.1070G>T (p.Ser357Ile) rs1014543362 0.00002
NM_001308093.3(GATA4):c.298A>G (p.Thr100Ala) rs891667879 0.00002
NM_001365276.2(TNXB):c.1252C>T (p.Arg418Cys) rs570402166 0.00002
NM_001365276.2(TNXB):c.2135C>T (p.Pro712Leu) rs766469380 0.00002
NM_001365276.2(TNXB):c.2703C>T (p.Gly901=) rs759556629 0.00002
NM_001365276.2(TNXB):c.4021G>A (p.Glu1341Lys) rs924349760 0.00002
NM_001365276.2(TNXB):c.5269G>A (p.Gly1757Ser) rs747658329 0.00002
NM_001365276.2(TNXB):c.6722C>T (p.Pro2241Leu) rs371038535 0.00002
NM_001365276.2(TNXB):c.8186A>G (p.Glu2729Gly) rs749055881 0.00002
NM_001365276.2(TNXB):c.8631G>C (p.Gln2877His) rs773612193 0.00002
NM_001365276.2(TNXB):c.8666G>A (p.Arg2889Gln) rs768863607 0.00002
NM_001365276.2(TNXB):c.8966G>A (p.Arg2989Lys) rs775312280 0.00002
NM_001365276.2(TNXB):c.9379A>G (p.Asn3127Asp) rs763951482 0.00002
NM_001365276.2(TNXB):c.9458C>G (p.Pro3153Arg) rs763407660 0.00002
NM_001365276.2(TNXB):c.9745G>A (p.Val3249Met) rs376344484 0.00002
NM_001367624.2(ZNF469):c.10324A>G (p.Arg3442Gly) rs950869305 0.00002
NM_001367624.2(ZNF469):c.10424G>A (p.Arg3475His) rs994815851 0.00002
NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu) rs764764326 0.00002
NM_001367624.2(ZNF469):c.11134G>A (p.Ala3712Thr) rs759634111 0.00002
NM_001367624.2(ZNF469):c.11378C>T (p.Pro3793Leu) rs1262682961 0.00002
NM_001367624.2(ZNF469):c.11645C>T (p.Pro3882Leu) rs376013703 0.00002
NM_001367624.2(ZNF469):c.1475G>A (p.Arg492Gln) rs919081661 0.00002
NM_001367624.2(ZNF469):c.3751G>A (p.Ala1251Thr) rs768287765 0.00002
NM_001367624.2(ZNF469):c.4211C>T (p.Ala1404Val) rs948990641 0.00002
NM_001367624.2(ZNF469):c.4427G>A (p.Arg1476Lys) rs763632522 0.00002
NM_001367624.2(ZNF469):c.6046G>A (p.Ala2016Thr) rs368679510 0.00002
NM_001367624.2(ZNF469):c.660G>C (p.Gln220His) rs965207266 0.00002
NM_001367624.2(ZNF469):c.7444C>T (p.Arg2482Cys) rs1002940022 0.00002
NM_001367624.2(ZNF469):c.8993G>A (p.Arg2998Gln) rs1165825244 0.00002
NM_001367624.2(ZNF469):c.9019G>A (p.Asp3007Asn) rs886881362 0.00002
NM_001367624.2(ZNF469):c.9032C>T (p.Ser3011Phe) rs866656179 0.00002
NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu) rs1208219883 0.00002
NM_001378454.1(ALMS1):c.10550A>G (p.His3517Arg) rs753393562 0.00002
NM_001378454.1(ALMS1):c.10630A>G (p.Arg3544Gly) rs773075850 0.00002
NM_001378454.1(ALMS1):c.10817G>A (p.Arg3606Gln) rs148044176 0.00002
NM_001378454.1(ALMS1):c.10832A>G (p.Gln3611Arg) rs45452795 0.00002
NM_001378454.1(ALMS1):c.1153A>G (p.Ser385Gly) rs761174114 0.00002
NM_001378454.1(ALMS1):c.12040C>T (p.Arg4014Trp) rs543346172 0.00002
NM_001378454.1(ALMS1):c.12137C>A (p.Pro4046His) rs751862434 0.00002
NM_001378454.1(ALMS1):c.12274C>T (p.Arg4092Cys) rs774888526 0.00002
NM_001378454.1(ALMS1):c.12376C>T (p.Leu4126Phe) rs746923966 0.00002
NM_001378454.1(ALMS1):c.12442C>T (p.Arg4148Ter) rs192496253 0.00002
NM_001378454.1(ALMS1):c.1651A>T (p.Thr551Ser) rs1271418277 0.00002
NM_001378454.1(ALMS1):c.176A>T (p.His59Leu) rs772683919 0.00002
NM_001378454.1(ALMS1):c.2293T>C (p.Ser765Pro) rs373936479 0.00002
NM_001378454.1(ALMS1):c.2420C>G (p.Pro807Arg) rs372717861 0.00002
NM_001378454.1(ALMS1):c.2686C>G (p.Gln896Glu) rs376834704 0.00002
NM_001378454.1(ALMS1):c.3318C>G (p.Phe1106Leu) rs1044966122 0.00002
NM_001378454.1(ALMS1):c.3493C>T (p.Pro1165Ser) rs767103091 0.00002
NM_001378454.1(ALMS1):c.3545C>T (p.Thr1182Ile) rs778965893 0.00002
NM_001378454.1(ALMS1):c.3604T>C (p.Tyr1202His) rs766931841 0.00002
NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) rs760866713 0.00002
NM_001378454.1(ALMS1):c.460T>A (p.Ser154Thr) rs767106643 0.00002
NM_001378454.1(ALMS1):c.5194A>T (p.Thr1732Ser) rs370735089 0.00002
NM_001378454.1(ALMS1):c.5694T>A (p.Asn1898Lys) rs1317035563 0.00002
NM_001378454.1(ALMS1):c.5860G>A (p.Glu1954Lys) rs1313974028 0.00002
NM_001378454.1(ALMS1):c.6833A>G (p.Asn2278Ser) rs767464740 0.00002
NM_001378454.1(ALMS1):c.7033C>T (p.Arg2345Trp) rs776611154 0.00002
NM_001378454.1(ALMS1):c.8012C>T (p.Pro2671Leu) rs996036496 0.00002
NM_001378454.1(ALMS1):c.8626C>A (p.Leu2876Ile) rs1447116062 0.00002
NM_001378454.1(ALMS1):c.8720C>G (p.Ser2907Cys) rs747291259 0.00002
NM_001378454.1(ALMS1):c.872G>C (p.Ser291Thr) rs568470985 0.00002
NM_001378454.1(ALMS1):c.8861A>G (p.Asp2954Gly) rs751940353 0.00002
NM_001378454.1(ALMS1):c.8882C>T (p.Pro2961Leu) rs781477502 0.00002
NM_001378454.1(ALMS1):c.9055G>A (p.Val3019Met) rs773897748 0.00002
NM_001378454.1(ALMS1):c.9722C>A (p.Pro3241His) rs770579229 0.00002
NM_001378969.1(KCND3):c.1256G>A (p.Arg419His) rs774338559 0.00002
NM_001378969.1(KCND3):c.1519-5C>T rs376408039 0.00002
NM_001378969.1(KCND3):c.514G>A (p.Ala172Thr) rs149488365 0.00002
NM_001379200.1(TBX1):c.1253A>G (p.Glu418Gly) rs745858331 0.00002
NM_001379200.1(TBX1):c.1346G>A (p.Gly449Asp) rs1177085596 0.00002
NM_001379200.1(TBX1):c.1462T>C (p.Tyr488His) rs746250147 0.00002
NM_001379200.1(TBX1):c.1508C>G (p.Pro503Arg) rs756769832 0.00002
NM_001458.5(FLNC):c.1001G>A (p.Arg334His) rs779347920 0.00002
NM_001458.5(FLNC):c.1141C>T (p.Arg381Cys) rs770692923 0.00002
NM_001458.5(FLNC):c.1208C>T (p.Ala403Val) rs777199447 0.00002
NM_001458.5(FLNC):c.1258C>T (p.Arg420Trp) rs766755439 0.00002
NM_001458.5(FLNC):c.1309C>T (p.Arg437Cys) rs374847180 0.00002
NM_001458.5(FLNC):c.1372C>T (p.Pro458Ser) rs369747694 0.00002
NM_001458.5(FLNC):c.1724G>A (p.Arg575Gln) rs764751276 0.00002
NM_001458.5(FLNC):c.1981G>A (p.Ala661Thr) rs1480694554 0.00002
NM_001458.5(FLNC):c.2216C>T (p.Thr739Ile) rs749380628 0.00002
NM_001458.5(FLNC):c.2458G>A (p.Asp820Asn) rs965901086 0.00002
NM_001458.5(FLNC):c.2736C>T (p.Gly912=) rs768894698 0.00002
NM_001458.5(FLNC):c.2812-4A>T rs1461105538 0.00002
NM_001458.5(FLNC):c.2879T>G (p.Val960Gly) rs568452175 0.00002
NM_001458.5(FLNC):c.3001G>A (p.Val1001Met) rs1037999644 0.00002
NM_001458.5(FLNC):c.3005G>A (p.Arg1002Gln) rs202039743 0.00002
NM_001458.5(FLNC):c.3022C>T (p.Arg1008Cys) rs757969015 0.00002
NM_001458.5(FLNC):c.3062C>T (p.Ala1021Val) rs574118437 0.00002
NM_001458.5(FLNC):c.3079C>T (p.Arg1027Cys) rs541775814 0.00002
NM_001458.5(FLNC):c.3295G>A (p.Val1099Ile) rs759452636 0.00002
NM_001458.5(FLNC):c.3310G>A (p.Glu1104Lys) rs535109443 0.00002
NM_001458.5(FLNC):c.3488C>T (p.Pro1163Leu) rs377489161 0.00002
NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys) rs766439553 0.00002
NM_001458.5(FLNC):c.3851G>A (p.Gly1284Asp) rs1041643602 0.00002
NM_001458.5(FLNC):c.400A>G (p.Ile134Val) rs150285287 0.00002
NM_001458.5(FLNC):c.4061G>A (p.Arg1354Gln) rs572132215 0.00002
NM_001458.5(FLNC):c.4073C>G (p.Pro1358Arg) rs769586047 0.00002
NM_001458.5(FLNC):c.4159A>T (p.Ile1387Phe) rs1032003580 0.00002
NM_001458.5(FLNC):c.4300C>T (p.Arg1434Cys) rs536331212 0.00002
NM_001458.5(FLNC):c.449A>G (p.Asp150Gly) rs760711912 0.00002
NM_001458.5(FLNC):c.44G>T (p.Gly15Val) rs766081127 0.00002
NM_001458.5(FLNC):c.4513T>C (p.Tyr1505His) rs761352737 0.00002
NM_001458.5(FLNC):c.4565A>G (p.Gln1522Arg) rs1022106059 0.00002
NM_001458.5(FLNC):c.4699C>T (p.Arg1567Trp) rs369842920 0.00002
NM_001458.5(FLNC):c.4705G>A (p.Ala1569Thr) rs768737324 0.00002
NM_001458.5(FLNC):c.4711G>A (p.Glu1571Lys) rs761793156 0.00002
NM_001458.5(FLNC):c.479C>T (p.Thr160Met) rs1357772572 0.00002
NM_001458.5(FLNC):c.5156G>A (p.Arg1719His) rs746777092 0.00002
NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val) rs200233856 0.00002
NM_001458.5(FLNC):c.5407C>T (p.Arg1803Trp) rs369457426 0.00002
NM_001458.5(FLNC):c.5408G>A (p.Arg1803Gln) rs757482925 0.00002
NM_001458.5(FLNC):c.548G>A (p.Arg183His) rs747837803 0.00002
NM_001458.5(FLNC):c.5579G>A (p.Arg1860His) rs1019973830 0.00002
NM_001458.5(FLNC):c.5668+4A>C rs1259876470 0.00002
NM_001458.5(FLNC):c.6041T>C (p.Val2014Ala) rs765064363 0.00002
NM_001458.5(FLNC):c.6053G>A (p.Arg2018His) rs764326184 0.00002
NM_001458.5(FLNC):c.6121G>C (p.Ala2041Pro) rs745842738 0.00002
NM_001458.5(FLNC):c.6283A>G (p.Thr2095Ala) rs373022507 0.00002
NM_001458.5(FLNC):c.6325A>G (p.Ile2109Val) rs755736125 0.00002
NM_001458.5(FLNC):c.6563C>T (p.Thr2188Met) rs769574342 0.00002
NM_001458.5(FLNC):c.6593G>A (p.Gly2198Asp) rs909093665 0.00002
NM_001458.5(FLNC):c.6923C>T (p.Pro2308Leu) rs369250297 0.00002
NM_001458.5(FLNC):c.6986C>G (p.Ala2329Gly) rs746991573 0.00002
NM_001458.5(FLNC):c.7310G>A (p.Arg2437Gln) rs201762568 0.00002
NM_001458.5(FLNC):c.7315G>A (p.Val2439Met) rs752667511 0.00002
NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn) rs550547714 0.00002
NM_001458.5(FLNC):c.7546G>A (p.Glu2516Lys) rs373691962 0.00002
NM_001458.5(FLNC):c.7651G>C (p.Asp2551His) rs1187923021 0.00002
NM_001458.5(FLNC):c.7658G>A (p.Arg2553Gln) rs375213102 0.00002
NM_001458.5(FLNC):c.7972G>A (p.Val2658Met) rs1269145751 0.00002
NM_001458.5(FLNC):c.896C>T (p.Thr299Ile) rs774743325 0.00002
NM_001711.6(BGN):c.22G>A (p.Val8Met) rs200211184 0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_001927.4(DES):c.1049G>A (p.Arg350Gln) rs57965306 0.00002
NM_001927.4(DES):c.1288+1G>A rs112224037 0.00002
NM_001927.4(DES):c.1325C>A (p.Thr442Asn) rs121913005 0.00002
NM_001927.4(DES):c.167T>A (p.Val56Glu) rs1170549656 0.00002
NM_001927.4(DES):c.184G>A (p.Gly62Arg) rs886044090 0.00002
NM_001927.4(DES):c.196C>A (p.Leu66Met) rs1320380570 0.00002
NM_001927.4(DES):c.40T>C (p.Tyr14His) rs750819338 0.00002
NM_001927.4(DES):c.609A>C (p.Glu203Asp) rs369495436 0.00002
NM_001927.4(DES):c.680G>A (p.Arg227His) rs141486420 0.00002
NM_001927.4(DES):c.728A>G (p.His243Arg) rs1410266369 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.2179G>A (p.Gly727Ser) rs755555966 0.00002
NM_001943.5(DSG2):c.219A>G (p.Ile73Met) rs748445394 0.00002
NM_001943.5(DSG2):c.2269A>T (p.Met757Leu) rs750010743 0.00002
NM_001943.5(DSG2):c.2623A>G (p.Met875Val) rs370316475 0.00002
NM_001943.5(DSG2):c.356G>A (p.Arg119Gln) rs532305326 0.00002
NM_001943.5(DSG2):c.919C>G (p.Leu307Val) rs1052070604 0.00002
NM_001943.5(DSG2):c.977A>T (p.Asp326Val) rs769699241 0.00002
NM_001999.4(FBN2):c.4801G>A (p.Val1601Ile) rs762108847 0.00002
NM_002230.4(JUP):c.-4C>T rs782493861 0.00002
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) rs794729045 0.00002
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg) rs1327324458 0.00002
NM_002230.4(JUP):c.1513A>G (p.Ile505Val) rs955019712 0.00002
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys) rs782455234 0.00002
NM_002230.4(JUP):c.1850C>T (p.Ala617Val) rs782465804 0.00002
NM_002230.4(JUP):c.2153T>C (p.Met718Thr) rs782336064 0.00002
NM_002230.4(JUP):c.2191G>A (p.Asp731Asn) rs782647137 0.00002
NM_002230.4(JUP):c.2194G>A (p.Gly732Ser) rs781885294 0.00002
NM_002230.4(JUP):c.274G>T (p.Gly92Cys) rs781875765 0.00002
NM_002230.4(JUP):c.436G>A (p.Glu146Lys) rs146581757 0.00002
NM_002230.4(JUP):c.502C>G (p.Gln168Glu) rs1322804388 0.00002
NM_002230.4(JUP):c.521C>T (p.Ala174Val) rs146786437 0.00002
NM_002230.4(JUP):c.524C>T (p.Ser175Leu) rs782435477 0.00002
NM_002230.4(JUP):c.533C>T (p.Ala178Val) rs781976753 0.00002
NM_002230.4(JUP):c.572G>A (p.Arg191His) rs143502391 0.00002
NM_002230.4(JUP):c.646C>T (p.Arg216Trp) rs1490199319 0.00002
NM_002230.4(JUP):c.951G>C (p.Gln317His) rs782215140 0.00002
NM_002230.4(JUP):c.964T>C (p.Tyr322His) rs557075259 0.00002
NM_002294.3(LAMP2):c.183T>C (p.Tyr61=) rs397516736 0.00002
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg) rs727504953 0.00002
NM_002294.3(LAMP2):c.284G>T (p.Gly95Val) rs755790073 0.00002
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr) rs778577575 0.00002
NM_002294.3(LAMP2):c.797G>A (p.Arg266His) rs200934351 0.00002
NM_002317.7(LOX):c.135G>T (p.Gln45His) rs577482351 0.00002
NM_002317.7(LOX):c.215C>G (p.Pro72Arg) rs754947607 0.00002
NM_002317.7(LOX):c.260C>T (p.Pro87Leu) rs572413728 0.00002
NM_002317.7(LOX):c.31G>C (p.Gly11Arg) rs370627614 0.00002
NM_002471.4(MYH6):c.1042G>A (p.Ala348Thr) rs1002843684 0.00002
NM_002471.4(MYH6):c.1210C>T (p.Arg404Trp) rs1271657601 0.00002
NM_002471.4(MYH6):c.121G>A (p.Asp41Asn) rs201161721 0.00002
NM_002471.4(MYH6):c.1520T>C (p.Ile507Thr) rs188023690 0.00002
NM_002471.4(MYH6):c.160C>T (p.Arg54Trp) rs369366244 0.00002
NM_002471.4(MYH6):c.1822G>A (p.Ala608Thr) rs886050409 0.00002
NM_002471.4(MYH6):c.2140C>T (p.Arg714Cys) rs761520417 0.00002
NM_002471.4(MYH6):c.2366G>A (p.Arg789His) rs534878047 0.00002
NM_002471.4(MYH6):c.244C>T (p.Pro82Ser) rs754260713 0.00002
NM_002471.4(MYH6):c.2533G>A (p.Ala845Thr) rs989813600 0.00002
NM_002471.4(MYH6):c.2605G>A (p.Glu869Lys) rs774144472 0.00002
NM_002471.4(MYH6):c.2768A>C (p.Glu923Ala) rs371709369 0.00002
NM_002471.4(MYH6):c.3135G>T (p.Lys1045Asn) rs758449996 0.00002
NM_002471.4(MYH6):c.3154C>T (p.Arg1052Ter) rs532606047 0.00002
NM_002471.4(MYH6):c.354G>A (p.Ser118=) rs373427673 0.00002
NM_002471.4(MYH6):c.3575C>T (p.Ala1192Val) rs765797952 0.00002
NM_002471.4(MYH6):c.3697G>A (p.Val1233Ile) rs144761217 0.00002
NM_002471.4(MYH6):c.3998A>G (p.His1333Arg) rs752258570 0.00002
NM_002471.4(MYH6):c.4010C>T (p.Ser1337Leu) rs758922922 0.00002
NM_002471.4(MYH6):c.4084G>A (p.Val1362Ile) rs768398107 0.00002
NM_002471.4(MYH6):c.409G>A (p.Glu137Lys) rs752658033 0.00002
NM_002471.4(MYH6):c.4151G>A (p.Arg1384Gln) rs139265690 0.00002
NM_002471.4(MYH6):c.4182G>C (p.Lys1394Asn) rs753160962 0.00002
NM_002471.4(MYH6):c.4192C>T (p.Arg1398Trp) rs374022661 0.00002
NM_002471.4(MYH6):c.4361T>A (p.Ile1454Asn) rs746342054 0.00002
NM_002471.4(MYH6):c.4438A>G (p.Ser1480Gly) rs930701630 0.00002
NM_002471.4(MYH6):c.4624C>A (p.Leu1542Met) rs750721562 0.00002
NM_002471.4(MYH6):c.4685G>A (p.Arg1562Gln) rs371068881 0.00002
NM_002471.4(MYH6):c.4918G>A (p.Glu1640Lys) rs748924413 0.00002
NM_002471.4(MYH6):c.4981G>A (p.Asp1661Asn) rs771357562 0.00002
NM_002471.4(MYH6):c.5002G>A (p.Asp1668Asn) rs200884672 0.00002
NM_002471.4(MYH6):c.5135G>T (p.Ser1712Ile) rs201383498 0.00002
NM_002471.4(MYH6):c.5285C>T (p.Thr1762Met) rs917672791 0.00002
NM_002471.4(MYH6):c.5575G>A (p.Asp1859Asn) rs1441072867 0.00002
NM_002471.4(MYH6):c.5660C>T (p.Ala1887Val) rs767096302 0.00002
NM_002471.4(MYH6):c.5694C>G (p.Phe1898Leu) rs201199853 0.00002
NM_002471.4(MYH6):c.5696G>A (p.Arg1899His) rs61731171 0.00002
NM_002471.4(MYH6):c.5794A>T (p.Lys1932Ter) rs763914096 0.00002
NM_002471.4(MYH6):c.691T>C (p.Phe231Leu) rs199916773 0.00002
NM_002471.4(MYH6):c.731G>A (p.Arg244His) rs200645920 0.00002
NM_002471.4(MYH6):c.85C>T (p.Arg29Trp) rs752885646 0.00002
NM_002471.4(MYH6):c.934G>A (p.Ala312Thr) rs748143404 0.00002
NM_002667.5(PLN):c.34A>G (p.Ile12Val) rs749571694 0.00002
NM_002834.5(PTPN11):c.1162G>A (p.Val388Ile) rs749523268 0.00002
NM_002834.5(PTPN11):c.1190C>T (p.Thr397Met) rs767503386 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1468G>A (p.Val490Ile) rs781083623 0.00002
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_002834.5(PTPN11):c.461G>C (p.Gly154Ala) rs376027245 0.00002
NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser) rs730880992 0.00002
NM_002880.4(RAF1):c.293T>C (p.Val98Ala) rs763559779 0.00002
NM_002880.4(RAF1):c.793A>G (p.Met265Val) rs533494009 0.00002
NM_002880.4(RAF1):c.819C>G (p.Asp273Glu) rs771675427 0.00002
NM_002880.4(RAF1):c.917C>T (p.Ser306Leu) rs886041231 0.00002
NM_002890.3(RASA1):c.2189T>C (p.Ile730Thr) rs758288921 0.00002
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu) rs755788420 0.00002
NM_002890.3(RASA1):c.472T>C (p.Ser158Pro) rs780636400 0.00002
NM_002890.3(RASA1):c.848G>A (p.Arg283His) rs753769946 0.00002
NM_003098.3(SNTA1):c.1109C>T (p.Thr370Met) rs746227626 0.00002
NM_003098.3(SNTA1):c.1118G>A (p.Arg373His) rs754648214 0.00002
NM_003098.3(SNTA1):c.1204C>T (p.Arg402Trp) rs373387978 0.00002
NM_003098.3(SNTA1):c.1205G>A (p.Arg402Gln) rs771369802 0.00002
NM_003098.3(SNTA1):c.1388T>G (p.Leu463Arg) rs188835994 0.00002
NM_003098.3(SNTA1):c.25C>T (p.Arg9Cys) rs886039012 0.00002
NM_003098.3(SNTA1):c.668C>T (p.Ser223Leu) rs779370807 0.00002
NM_003098.3(SNTA1):c.70G>A (p.Gly24Ser) rs786205847 0.00002
NM_003280.3(TNNC1):c.243G>C (p.Met81Ile) rs545564444 0.00002
NM_003480.4(MFAP5):c.395A>T (p.His132Leu) rs374890052 0.00002
NM_003673.4(TCAP):c.386A>G (p.Asp129Gly) rs1324156287 0.00002
NM_003673.4(TCAP):c.421C>G (p.Pro141Ala) rs45509691 0.00002
NM_003803.4(MYOM1):c.4967C>T (p.Thr1656Ile) rs749267113 0.00002
NM_004006.3(DMD):c.10211A>G (p.Asp3404Gly) rs745766977 0.00002
NM_004006.3(DMD):c.1057T>C (p.Ser353Pro) rs753289586 0.00002
NM_004006.3(DMD):c.10615C>G (p.Leu3539Val) rs367748290 0.00002
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln) rs1057522606 0.00002
NM_004006.3(DMD):c.10940G>A (p.Ser3647Asn) rs759642119 0.00002
NM_004006.3(DMD):c.1094A>G (p.Gln365Arg) rs1216968523 0.00002
NM_004006.3(DMD):c.11015-5T>A rs753104670 0.00002
NM_004006.3(DMD):c.11023A>G (p.Thr3675Ala) rs768016083 0.00002
NM_004006.3(DMD):c.1382A>G (p.Asn461Ser) rs775115784 0.00002
NM_004006.3(DMD):c.1482+3A>G rs368825354 0.00002
NM_004006.3(DMD):c.1573G>A (p.Ala525Thr) rs754158494 0.00002
NM_004006.3(DMD):c.1823C>T (p.Ala608Val) rs189896732 0.00002
NM_004006.3(DMD):c.1954G>T (p.Asp652Tyr) rs1488881909 0.00002
NM_004006.3(DMD):c.2210G>A (p.Arg737His) rs773358704 0.00002
NM_004006.3(DMD):c.2726C>T (p.Ala909Val) rs370014420 0.00002
NM_004006.3(DMD):c.2776C>A (p.Gln926Lys) rs1055371114 0.00002
NM_004006.3(DMD):c.2900T>G (p.Leu967Arg) rs766400327 0.00002
NM_004006.3(DMD):c.298G>A (p.Val100Ile) rs779099343 0.00002
NM_004006.3(DMD):c.3029C>T (p.Ala1010Val) rs780896933 0.00002
NM_004006.3(DMD):c.3232C>T (p.Leu1078Phe) rs375329908 0.00002
NM_004006.3(DMD):c.3674T>C (p.Ile1225Thr) rs757482211 0.00002
NM_004006.3(DMD):c.3912G>C (p.Glu1304Asp) rs764748376 0.00002
NM_004006.3(DMD):c.4302G>C (p.Lys1434Asn) rs749556197 0.00002
NM_004006.3(DMD):c.4613C>T (p.Pro1538Leu) rs1040362862 0.00002
NM_004006.3(DMD):c.4762G>T (p.Ala1588Ser) rs749732729 0.00002
NM_004006.3(DMD):c.4798G>C (p.Val1600Leu) rs753565464 0.00002
NM_004006.3(DMD):c.4981A>G (p.Ile1661Val) rs373475585 0.00002
NM_004006.3(DMD):c.5022G>T (p.Leu1674Phe) rs398123975 0.00002
NM_004006.3(DMD):c.5097C>A (p.Asp1699Glu) rs763028318 0.00002
NM_004006.3(DMD):c.5144A>G (p.Asp1715Gly) rs151109270 0.00002
NM_004006.3(DMD):c.5216C>A (p.Ala1739Glu) rs200740165 0.00002
NM_004006.3(DMD):c.5255T>C (p.Leu1752Ser) rs373428963 0.00002
NM_004006.3(DMD):c.5263C>T (p.Pro1755Ser) rs1057515872 0.00002
NM_004006.3(DMD):c.5390T>C (p.Leu1797Pro) rs750303298 0.00002
NM_004006.3(DMD):c.5459A>G (p.Asn1820Ser) rs1800271 0.00002
NM_004006.3(DMD):c.5863C>T (p.Arg1955Cys) rs377039314 0.00002
NM_004006.3(DMD):c.5864G>A (p.Arg1955His) rs200455300 0.00002
NM_004006.3(DMD):c.5923-4C>G rs780118536 0.00002
NM_004006.3(DMD):c.6076A>G (p.Lys2026Glu) rs772603087 0.00002
NM_004006.3(DMD):c.6319C>T (p.Arg2107Trp) rs770711808 0.00002
NM_004006.3(DMD):c.6760A>C (p.Lys2254Gln) rs201818335 0.00002
NM_004006.3(DMD):c.728T>C (p.Val243Ala) rs753509616 0.00002
NM_004006.3(DMD):c.7429C>T (p.Arg2477Trp) rs759274835 0.00002
NM_004006.3(DMD):c.746A>G (p.Gln249Arg) rs1212242832 0.00002
NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln) rs771509836 0.00002
NM_004006.3(DMD):c.7711C>T (p.Arg2571Trp) rs757011771 0.00002
NM_004006.3(DMD):c.772C>A (p.Pro258Thr) rs773066825 0.00002
NM_004006.3(DMD):c.7945C>T (p.Arg2649Trp) rs1015097529 0.00002
NM_004006.3(DMD):c.8015G>A (p.Ser2672Asn) rs771081514 0.00002
NM_004006.3(DMD):c.807T>A (p.His269Gln) rs1038213947 0.00002
NM_004006.3(DMD):c.842G>C (p.Ser281Thr) rs762274027 0.00002
NM_004006.3(DMD):c.8543A>G (p.His2848Arg) rs146890210 0.00002
NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys) rs368114420 0.00002
NM_004006.3(DMD):c.8937+5C>T rs752551008 0.00002
NM_004006.3(DMD):c.8983G>A (p.Val2995Ile) rs148643665 0.00002
NM_004006.3(DMD):c.9076C>T (p.Leu3026Phe) rs749533073 0.00002
NM_004006.3(DMD):c.9164-3C>T rs1237165748 0.00002
NM_004006.3(DMD):c.9584G>A (p.Arg3195His) rs756958090 0.00002
NM_004100.5(EYA4):c.1445C>T (p.Ala482Val) rs1042738234 0.00002
NM_004100.5(EYA4):c.1685A>G (p.Tyr562Cys) rs199621266 0.00002
NM_004100.5(EYA4):c.211G>A (p.Glu71Lys) rs537561870 0.00002
NM_004100.5(EYA4):c.217A>G (p.Met73Val) rs970732881 0.00002
NM_004100.5(EYA4):c.347C>T (p.Ala116Val) rs747223436 0.00002
NM_004100.5(EYA4):c.550A>G (p.Thr184Ala) rs886039203 0.00002
NM_004100.5(EYA4):c.5A>G (p.Glu2Gly) rs780081930 0.00002
NM_004100.5(EYA4):c.704C>T (p.Pro235Leu) rs765608642 0.00002
NM_004100.5(EYA4):c.946C>T (p.Leu316Phe) rs1188519938 0.00002
NM_004100.5(EYA4):c.961A>G (p.Asn321Asp) rs202049252 0.00002
NM_004100.5(EYA4):c.971-3T>C rs377224718 0.00002
NM_004281.4(BAG3):c.1034A>T (p.Glu345Val) rs189646603 0.00002
NM_004281.4(BAG3):c.1064C>T (p.Pro355Leu) rs1227175290 0.00002
NM_004281.4(BAG3):c.1411G>A (p.Glu471Lys) rs778496291 0.00002
NM_004281.4(BAG3):c.1528C>T (p.Leu510Phe) rs771188059 0.00002
NM_004281.4(BAG3):c.386C>T (p.Ala129Val) rs876657747 0.00002
NM_004281.4(BAG3):c.494C>T (p.Ser165Phe) rs143756613 0.00002
NM_004281.4(BAG3):c.668C>G (p.Pro223Arg) rs754615028 0.00002
NM_004281.4(BAG3):c.698A>G (p.Tyr233Cys) rs1415830597 0.00002
NM_004281.4(BAG3):c.715G>A (p.Glu239Lys) rs148544471 0.00002
NM_004281.4(BAG3):c.983T>C (p.Val328Ala) rs765627299 0.00002
NM_004387.4(NKX2-5):c.13C>T (p.Pro5Ser) rs769233111 0.00002
NM_004387.4(NKX2-5):c.887G>A (p.Gly296Asp) rs373421818 0.00002
NM_004415.4(DSP):c.1040T>C (p.Ile347Thr) rs757208743 0.00002
NM_004415.4(DSP):c.130C>T (p.Arg44Trp) rs1255744065 0.00002
NM_004415.4(DSP):c.1419+5G>C rs1004508873 0.00002
NM_004415.4(DSP):c.1522G>A (p.Val508Met) rs751537483 0.00002
NM_004415.4(DSP):c.1732A>C (p.Lys578Gln) rs761478865 0.00002
NM_004415.4(DSP):c.1816C>T (p.Arg606Trp) rs372467697 0.00002
NM_004415.4(DSP):c.1903+4G>A rs757726608 0.00002
NM_004415.4(DSP):c.2000G>C (p.Trp667Ser) rs760214732 0.00002
NM_004415.4(DSP):c.2234A>G (p.Glu745Gly) rs969462343 0.00002
NM_004415.4(DSP):c.2275G>A (p.Val759Ile) rs745544854 0.00002
NM_004415.4(DSP):c.2443A>G (p.Lys815Glu) rs774638728 0.00002
NM_004415.4(DSP):c.2479A>T (p.Thr827Ser) rs1009521297 0.00002
NM_004415.4(DSP):c.2674C>T (p.Arg892Cys) rs750800025 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.3388G>A (p.Asp1130Asn) rs765769174 0.00002
NM_004415.4(DSP):c.3661A>G (p.Ile1221Val) rs794728120 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.384G>A (p.Met128Ile) rs930440897 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.4275G>T (p.Arg1425Ser) rs763489227 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.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.4670C>T (p.Thr1557Met) rs747582734 0.00002
NM_004415.4(DSP):c.467T>A (p.Ile156Asn) rs767692014 0.00002
NM_004415.4(DSP):c.4808G>A (p.Arg1603Lys) rs869025393 0.00002
NM_004415.4(DSP):c.4867T>C (p.Ser1623Pro) rs749679496 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.4991T>G (p.Leu1664Arg) rs746139953 0.00002
NM_004415.4(DSP):c.517A>T (p.Thr173Ser) rs1372912970 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.6345G>T (p.Leu2115Phe) rs766950975 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_004415.4(DSP):c.6476A>T (p.Tyr2159Phe) rs1581822548 0.00002
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala) rs730880088 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.740C>T (p.Ala247Val) rs544360130 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.797T>C (p.Met266Thr) rs370890663 0.00002
NM_004415.4(DSP):c.8042A>C (p.Asp2681Ala) rs746166372 0.00002
NM_004415.4(DSP):c.8233A>G (p.Ile2745Val) rs747284663 0.00002
NM_004415.4(DSP):c.8374T>A (p.Ser2792Thr) rs727504570 0.00002
NM_004415.4(DSP):c.8402G>A (p.Arg2801His) rs763712887 0.00002
NM_004588.5(SCN2B):c.292C>T (p.Arg98Cys) rs771234231 0.00002
NM_004588.5(SCN2B):c.295G>A (p.Val99Met) rs772817742 0.00002
NM_004588.5(SCN2B):c.44C>T (p.Thr15Met) rs201373014 0.00002
NM_004588.5(SCN2B):c.632A>G (p.Asp211Gly) rs587777023 0.00002
NM_004982.4(KCNJ8):c.1196G>A (p.Arg399Gln) rs142014286 0.00002
NM_004982.4(KCNJ8):c.353C>T (p.Thr118Ile) rs770087869 0.00002
NM_004982.4(KCNJ8):c.820C>T (p.Arg274Cys) rs781083385 0.00002
NM_005120.3(MED12):c.2308G>A (p.Ala770Thr) rs199860580 0.00002
NM_005188.4(CBL):c.1394A>T (p.Asp465Val) rs770644035 0.00002
NM_005188.4(CBL):c.1783A>G (p.Ile595Val) rs775675805 0.00002
NM_005188.4(CBL):c.2485C>T (p.Arg829Trp) rs761245258 0.00002
NM_005188.4(CBL):c.286C>T (p.Arg96Cys) rs147438359 0.00002
NM_005472.5(KCNE3):c.262C>T (p.Arg88Cys) rs763157740 0.00002
NM_005472.5(KCNE3):c.263G>A (p.Arg88His) rs17221833 0.00002
NM_005477.3(HCN4):c.1448G>A (p.Arg483Gln) rs998387579 0.00002
NM_005477.3(HCN4):c.1997G>A (p.Arg666Gln) rs781395940 0.00002
NM_005477.3(HCN4):c.2063A>G (p.Asn688Ser) rs778801845 0.00002
NM_005477.3(HCN4):c.2374G>T (p.Ala792Ser) rs756650627 0.00002
NM_005477.3(HCN4):c.2419C>T (p.Arg807Cys) rs758427944 0.00002
NM_005477.3(HCN4):c.2518G>A (p.Ala840Thr) rs761507884 0.00002
NM_005477.3(HCN4):c.2764G>A (p.Asp922Asn) rs1020318942 0.00002
NM_005477.3(HCN4):c.2807C>T (p.Pro936Leu) rs769959023 0.00002
NM_005477.3(HCN4):c.2833C>T (p.Pro945Ser) rs778739758 0.00002
NM_005477.3(HCN4):c.2875C>G (p.Leu959Val) rs1057524285 0.00002
NM_005477.3(HCN4):c.3049G>A (p.Val1017Ile) rs1476274605 0.00002
NM_005477.3(HCN4):c.3131G>A (p.Arg1044Gln) rs750637152 0.00002
NM_005477.3(HCN4):c.3148G>A (p.Gly1050Arg) rs1443227484 0.00002
NM_005477.3(HCN4):c.3197C>A (p.Pro1066His) rs765155640 0.00002
NM_005477.3(HCN4):c.3218C>T (p.Pro1073Leu) rs982016034 0.00002
NM_005477.3(HCN4):c.3317C>T (p.Pro1106Leu) rs940405280 0.00002
NM_005477.3(HCN4):c.334G>A (p.Gly112Ser) rs765099391 0.00002
NM_005477.3(HCN4):c.3383G>T (p.Gly1128Val) rs727503957 0.00002
NM_005477.3(HCN4):c.3581C>T (p.Pro1194Leu) rs147982868 0.00002
NM_005477.3(HCN4):c.3605A>G (p.Asn1202Ser) rs768028811 0.00002
NM_005477.3(HCN4):c.88G>A (p.Glu30Lys) rs786205802 0.00002
NM_005502.4(ABCA1):c.5924A>T (p.Asn1975Ile) rs748663329 0.00002
NM_005633.4(SOS1):c.1010A>G (p.Tyr337Cys) rs724160007 0.00002
NM_005633.4(SOS1):c.1202+5A>G rs1021449471 0.00002
NM_005633.4(SOS1):c.169A>T (p.Asn57Tyr) rs765764610 0.00002
NM_005633.4(SOS1):c.1772A>G (p.Asn591Ser) rs757213444 0.00002
NM_005633.4(SOS1):c.2369T>C (p.Leu790Ser) rs139859866 0.00002
NM_005633.4(SOS1):c.2513G>A (p.Cys838Tyr) rs747801798 0.00002
NM_005633.4(SOS1):c.2567T>C (p.Ile856Thr) rs778865680 0.00002
NM_005633.4(SOS1):c.2996A>G (p.Asn999Ser) rs765070830 0.00002
NM_005633.4(SOS1):c.3329C>T (p.Ser1110Leu) rs572955351 0.00002
NM_005633.4(SOS1):c.3412A>G (p.Ile1138Val) rs56248239 0.00002
NM_005633.4(SOS1):c.3502C>G (p.Pro1168Ala) rs756406841 0.00002
NM_005633.4(SOS1):c.3592A>G (p.Ile1198Val) rs747534810 0.00002
NM_005633.4(SOS1):c.3836C>T (p.Thr1279Ile) rs758258471 0.00002
NM_005633.4(SOS1):c.3838C>A (p.Gln1280Lys) rs548519280 0.00002
NM_005633.4(SOS1):c.755T>C (p.Ile252Thr) rs142094234 0.00002
NM_005633.4(SOS1):c.979A>G (p.Ile327Val) rs758546951 0.00002
NM_005751.5(AKAP9):c.10007G>A (p.Arg3336Gln) rs572101398 0.00002
NM_005751.5(AKAP9):c.10714-3C>T rs763444110 0.00002
NM_005751.5(AKAP9):c.1103A>G (p.Gln368Arg) rs901965564 0.00002
NM_005751.5(AKAP9):c.11195G>A (p.Cys3732Tyr) rs752031242 0.00002
NM_005751.5(AKAP9):c.11617G>A (p.Asp3873Asn) rs745335257 0.00002
NM_005751.5(AKAP9):c.11687-2A>G rs1176473354 0.00002
NM_005751.5(AKAP9):c.1534C>G (p.Leu512Val) rs767454911 0.00002
NM_005751.5(AKAP9):c.211C>G (p.Gln71Glu) rs61757668 0.00002
NM_005751.5(AKAP9):c.2743T>A (p.Ser915Thr) rs371599265 0.00002
NM_005751.5(AKAP9):c.3394C>T (p.Arg1132Cys) rs768107825 0.00002
NM_005751.5(AKAP9):c.3736A>G (p.Arg1246Gly) rs779232513 0.00002
NM_005751.5(AKAP9):c.4023A>T (p.Gln1341His) rs765475242 0.00002
NM_005751.5(AKAP9):c.4082A>G (p.Tyr1361Cys) rs760043880 0.00002
NM_005751.5(AKAP9):c.431C>G (p.Ser144Cys) rs755140795 0.00002
NM_005751.5(AKAP9):c.4457A>G (p.His1486Arg) rs755931396 0.00002
NM_005751.5(AKAP9):c.48+5G>A rs377559019 0.00002
NM_005751.5(AKAP9):c.5554G>A (p.Ala1852Thr) rs1221445886 0.00002
NM_005751.5(AKAP9):c.6046C>T (p.Arg2016Cys) rs376950905 0.00002
NM_005751.5(AKAP9):c.604C>G (p.Gln202Glu) rs147876926 0.00002
NM_005751.5(AKAP9):c.6296G>A (p.Arg2099Gln) rs1240091785 0.00002
NM_005751.5(AKAP9):c.6931A>G (p.Thr2311Ala) rs142509451 0.00002
NM_005751.5(AKAP9):c.7084G>A (p.Glu2362Lys) rs374724127 0.00002
NM_005751.5(AKAP9):c.7096A>G (p.Ile2366Val) rs368823780 0.00002
NM_005751.5(AKAP9):c.7309C>T (p.Arg2437Cys) rs772366481 0.00002
NM_005751.5(AKAP9):c.8524A>G (p.Met2842Val) rs886062477 0.00002
NM_005751.5(AKAP9):c.9022G>A (p.Glu3008Lys) rs190695638 0.00002
NM_006073.4(TRDN):c.1043A>G (p.Glu348Gly) rs755708624 0.00002
NM_006073.4(TRDN):c.110C>T (p.Thr37Ile) rs1289581577 0.00002
NM_006073.4(TRDN):c.1220-3C>T rs773907258 0.00002
NM_006073.4(TRDN):c.1547G>C (p.Gly516Ala) rs145032876 0.00002
NM_006073.4(TRDN):c.1567G>C (p.Glu523Gln) rs1319380436 0.00002
NM_006073.4(TRDN):c.1582A>G (p.Lys528Glu) rs774550097 0.00002
NM_006073.4(TRDN):c.2110T>A (p.Phe704Ile) rs780892167 0.00002
NM_006073.4(TRDN):c.2164C>G (p.Pro722Ala) rs774449661 0.00002
NM_006073.4(TRDN):c.2182G>A (p.Gly728Arg) rs777497275 0.00002
NM_006073.4(TRDN):c.439A>G (p.Lys147Glu) rs554795197 0.00002
NM_006073.4(TRDN):c.605C>T (p.Ala202Val) rs765653366 0.00002
NM_006393.3(NEBL):c.205A>G (p.Thr69Ala) rs780384504 0.00002
NM_006440.5(TXNRD2):c.112C>T (p.Arg38Trp) rs1044687486 0.00002
NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln) rs759374389 0.00002
NM_006440.5(TXNRD2):c.1511T>C (p.Val504Ala) rs769258408 0.00002
NM_006440.5(TXNRD2):c.1534C>T (p.Arg512Cys) rs201943415 0.00002
NM_006440.5(TXNRD2):c.214G>A (p.Glu72Lys) rs779740988 0.00002
NM_006440.5(TXNRD2):c.529-5C>T rs766288973 0.00002
NM_006440.5(TXNRD2):c.761G>A (p.Arg254His) rs994880290 0.00002
NM_006440.5(TXNRD2):c.847C>T (p.Arg283Trp) rs200981451 0.00002
NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val) rs543290126 0.00002
NM_006440.5(TXNRD2):c.969A>C (p.Arg323Ser) rs765171416 0.00002
NM_006514.4(SCN10A):c.1286A>G (p.Gln429Arg) rs1331566750 0.00002
NM_006514.4(SCN10A):c.1516C>A (p.His506Asn) rs745555704 0.00002
NM_006514.4(SCN10A):c.1756-5A>T rs770047247 0.00002
NM_006514.4(SCN10A):c.2275C>G (p.Arg759Gly) rs745659019 0.00002
NM_006514.4(SCN10A):c.2464G>A (p.Ala822Thr) rs144304164 0.00002
NM_006514.4(SCN10A):c.3070G>A (p.Val1024Met) rs201106879 0.00002
NM_006514.4(SCN10A):c.3191C>T (p.Thr1064Met) rs774803610 0.00002
NM_006514.4(SCN10A):c.3598G>A (p.Glu1200Lys) rs202199966 0.00002
NM_006514.4(SCN10A):c.3742G>C (p.Ala1248Pro) rs764555780 0.00002
NM_006514.4(SCN10A):c.3766C>T (p.Arg1256Trp) rs747044382 0.00002
NM_006514.4(SCN10A):c.40C>T (p.Arg14Cys) rs750771811 0.00002
NM_006514.4(SCN10A):c.434T>C (p.Val145Ala) rs367751260 0.00002
NM_006514.4(SCN10A):c.4447A>G (p.Met1483Val) rs749549443 0.00002
NM_006514.4(SCN10A):c.4563C>T (p.Gly1521=) rs774492634 0.00002
NM_006514.4(SCN10A):c.4567T>C (p.Cys1523Arg) rs763221534 0.00002
NM_006514.4(SCN10A):c.46T>C (p.Phe16Leu) rs1432009058 0.00002
NM_006514.4(SCN10A):c.5606G>A (p.Arg1869His) rs765477377 0.00002
NM_006514.4(SCN10A):c.643C>T (p.Arg215Trp) rs774876702 0.00002
NM_006514.4(SCN10A):c.682G>A (p.Val228Met) rs141368548 0.00002
NM_006514.4(SCN10A):c.990C>A (p.Asp330Glu) rs1360994164 0.00002
NM_006912.6(RIT1):c.367C>T (p.Arg123Cys) rs1213963509 0.00002
NM_006912.6(RIT1):c.646G>A (p.Asp216Asn) rs545031201 0.00002
NM_006939.4(SOS2):c.1156G>C (p.Asp386His) rs776909576 0.00002
NM_006939.4(SOS2):c.1208G>C (p.Cys403Ser) rs201821194 0.00002
NM_006939.4(SOS2):c.2396C>T (p.Pro799Leu) rs773672997 0.00002
NM_006939.4(SOS2):c.3403A>G (p.Ser1135Gly) rs375478974 0.00002
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser) rs139401491 0.00002
NM_006939.4(SOS2):c.364G>A (p.Val122Met) rs1208838203 0.00002
NM_006939.4(SOS2):c.3735T>G (p.Asp1245Glu) rs752525400 0.00002
NM_007078.3(LDB3):c.1256C>A (p.Ser419Tyr) rs368888118 0.00002
NM_007078.3(LDB3):c.1381T>G (p.Tyr461Asp) rs145655904 0.00002
NM_007078.3(LDB3):c.1382A>C (p.Tyr461Ser) rs774224466 0.00002
NM_007078.3(LDB3):c.1435G>A (p.Gly479Arg) rs370521488 0.00002
NM_007078.3(LDB3):c.155T>C (p.Ile52Thr) rs1449865053 0.00002
NM_007078.3(LDB3):c.1639C>T (p.Arg547Trp) rs374426474 0.00002
NM_007078.3(LDB3):c.1696A>G (p.Met566Val) rs775232208 0.00002
NM_007078.3(LDB3):c.1703G>A (p.Arg568His) rs769156627 0.00002
NM_007078.3(LDB3):c.1774G>C (p.Glu592Gln) rs727504944 0.00002
NM_007078.3(LDB3):c.2074G>A (p.Asp692Asn) rs754529329 0.00002
NM_007078.3(LDB3):c.338C>T (p.Thr113Met) rs563714303 0.00002
NM_007078.3(LDB3):c.356C>T (p.Ala119Val) rs397517223 0.00002
NM_007078.3(LDB3):c.47G>A (p.Arg16His) rs767986134 0.00002
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln) rs61857115 0.00002
NM_007078.3(LDB3):c.656G>A (p.Arg219Gln) rs530979771 0.00002
NM_007078.3(LDB3):c.818G>A (p.Arg273His) rs763481542 0.00002
NM_007373.4(SHOC2):c.961A>G (p.Thr321Ala) rs779218281 0.00002
NM_012186.3(FOXE3):c.106G>A (p.Glu36Lys) rs900562270 0.00002
NM_012186.3(FOXE3):c.19A>G (p.Met7Val) rs1300297197 0.00002
NM_012186.3(FOXE3):c.415C>G (p.Pro139Ala) rs768612848 0.00002
NM_012186.3(FOXE3):c.566C>T (p.Ala189Val) rs777536289 0.00002
NM_012186.3(FOXE3):c.91C>T (p.Pro31Ser) rs1037554225 0.00002
NM_014000.3(VCL):c.1019C>T (p.Ala340Val) rs374928228 0.00002
NM_014000.3(VCL):c.1558C>T (p.Arg520Trp) rs377722209 0.00002
NM_014000.3(VCL):c.158A>G (p.Asn53Ser) rs751938777 0.00002
NM_014000.3(VCL):c.1606C>A (p.Pro536Thr) rs370058111 0.00002
NM_014000.3(VCL):c.1803T>A (p.Asp601Glu) rs1235063893 0.00002
NM_014000.3(VCL):c.1814C>G (p.Pro605Arg) rs960761223 0.00002
NM_014000.3(VCL):c.2038C>T (p.Arg680Cys) rs759356162 0.00002
NM_014000.3(VCL):c.2204A>G (p.Asp735Gly) rs1426976613 0.00002
NM_014000.3(VCL):c.224C>T (p.Pro75Leu) rs373830664 0.00002
NM_014000.3(VCL):c.2747C>T (p.Pro916Leu) rs143321584 0.00002
NM_014000.3(VCL):c.676G>A (p.Ala226Thr) rs146910007 0.00002
NM_014000.3(VCL):c.783+5G>A rs767694507 0.00002
NM_014391.3(ANKRD1):c.472C>T (p.His158Tyr) rs773773073 0.00002
NM_014391.3(ANKRD1):c.739_745del (p.Ala247fs) rs778060304 0.00002
NM_014391.3(ANKRD1):c.947T>C (p.Ile316Thr) rs774666943 0.00002
NM_014908.4(DOLK):c.164A>G (p.Tyr55Cys) rs41305507 0.00002
NM_014908.4(DOLK):c.572C>A (p.Pro191His) rs767965852 0.00002
NM_014908.4(DOLK):c.589G>A (p.Val197Ile) rs373587710 0.00002
NM_014908.4(DOLK):c.8G>A (p.Arg3Gln) rs373115419 0.00002
NM_015141.4(GPD1L):c.691C>T (p.Arg231Cys) rs143486835 0.00002
NM_015141.4(GPD1L):c.812G>A (p.Arg271Gln) rs1042900556 0.00002
NM_015141.4(GPD1L):c.838G>A (p.Ala280Thr) rs764691105 0.00002
NM_015627.3(LDLRAP1):c.710C>T (p.Pro237Leu) rs746229586 0.00002
NM_016203.4(PRKAG2):c.1051+3A>G rs376499470 0.00002
NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu) rs984007665 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.433G>A (p.Gly145Arg) rs886062101 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.635C>T (p.Pro212Leu) rs749753053 0.00002
NM_016203.4(PRKAG2):c.685-5C>A rs779931367 0.00002
NM_016599.5(MYOZ2):c.311C>T (p.Ala104Val) rs772659939 0.00002
NM_016599.5(MYOZ2):c.376+2T>C rs112675369 0.00002
NM_016938.5(EFEMP2):c.1037G>A (p.Arg346His) rs760786490 0.00002
NM_016938.5(EFEMP2):c.158G>A (p.Arg53Gln) rs372018326 0.00002
NM_016938.5(EFEMP2):c.724A>G (p.Ser242Gly) rs373202527 0.00002
NM_016938.5(EFEMP2):c.791G>A (p.Arg264His) rs749794461 0.00002
NM_017636.4(TRPM4):c.1050+1G>A rs775091137 0.00002
NM_017636.4(TRPM4):c.1160G>A (p.Ser387Asn) rs376261717 0.00002
NM_017636.4(TRPM4):c.1261C>T (p.Arg421Trp) rs773399498 0.00002
NM_017636.4(TRPM4):c.1391A>G (p.Tyr464Cys) rs1024275933 0.00002
NM_017636.4(TRPM4):c.1490A>G (p.Glu497Gly) rs753611182 0.00002
NM_017636.4(TRPM4):c.1514A>G (p.His505Arg) rs749621197 0.00002
NM_017636.4(TRPM4):c.1611G>A (p.Met537Ile) rs372498983 0.00002
NM_017636.4(TRPM4):c.1727T>C (p.Met576Thr) rs371269743 0.00002
NM_017636.4(TRPM4):c.1885G>A (p.Glu629Lys) rs762104169 0.00002
NM_017636.4(TRPM4):c.1934G>A (p.Arg645His) rs1357319774 0.00002
NM_017636.4(TRPM4):c.1958C>G (p.Thr653Ser) rs1054242340 0.00002
NM_017636.4(TRPM4):c.2420C>T (p.Pro807Leu) rs142257045 0.00002
NM_017636.4(TRPM4):c.2536G>T (p.Gly846Trp) rs772659037 0.00002
NM_017636.4(TRPM4):c.2912A>G (p.Tyr971Cys) rs199577978 0.00002
NM_017636.4(TRPM4):c.2992G>A (p.Gly998Ser) rs144702920 0.00002
NM_017636.4(TRPM4):c.3026G>A (p.Gly1009Asp) rs771524054 0.00002
NM_017636.4(TRPM4):c.3043T>G (p.Tyr1015Asp) rs757067985 0.00002
NM_017636.4(TRPM4):c.3226G>A (p.Ala1076Thr) rs1439683845 0.00002
NM_017636.4(TRPM4):c.3377C>G (p.Ser1126Trp) rs567938424 0.00002
NM_017636.4(TRPM4):c.3545G>A (p.Cys1182Tyr) rs757878891 0.00002
NM_017636.4(TRPM4):c.749G>A (p.Arg250His) rs778711356 0.00002
NM_017636.4(TRPM4):c.865G>A (p.Glu289Lys) rs770369257 0.00002
NM_017636.4(TRPM4):c.935C>T (p.Ala312Val) rs138095759 0.00002
NM_017946.4(FKBP14):c.16T>G (p.Trp6Gly) rs935382945 0.00002
NM_017946.4(FKBP14):c.314T>C (p.Ile105Thr) rs765841495 0.00002
NM_017946.4(FKBP14):c.404G>A (p.Arg135Gln) rs747727076 0.00002
NM_018699.4(PRDM5):c.1652G>A (p.Ser551Asn) rs752221668 0.00002
NM_018699.4(PRDM5):c.247C>T (p.Arg83Cys) rs761027478 0.00002
NM_018699.4(PRDM5):c.842G>T (p.Arg281Ile) rs373835306 0.00002
NM_020297.4(ABCC9):c.1400C>T (p.Ala467Val) rs770976719 0.00002
NM_020297.4(ABCC9):c.1859G>A (p.Arg620Gln) rs139539832 0.00002
NM_020297.4(ABCC9):c.1879C>G (p.Pro627Ala) rs367770980 0.00002
NM_020297.4(ABCC9):c.2011G>A (p.Ala671Thr) rs1220942080 0.00002
NM_020297.4(ABCC9):c.2238-4T>C rs770513703 0.00002
NM_020297.4(ABCC9):c.3060G>A (p.Ser1020=) rs769003781 0.00002
NM_020297.4(ABCC9):c.3590G>A (p.Arg1197His) rs755156050 0.00002
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp) rs770850932 0.00002
NM_020433.5(JPH2):c.1772G>T (p.Gly591Val) rs766721028 0.00002
NM_020433.5(JPH2):c.1790C>G (p.Ser597Trp) rs775179837 0.00002
NM_020433.5(JPH2):c.541G>A (p.Ala181Thr) rs1304705938 0.00002
NM_020778.4(ALPK3):c.393dup (p.Pro132Alafs) rs949029471 0.00002
NM_020778.5(ALPK3):c.-77G>A rs961911481 0.00002
NM_020778.5(ALPK3):c.109C>T (p.Arg37Trp) rs1229697421 0.00002
NM_020778.5(ALPK3):c.1598A>G (p.His533Arg) rs540543822 0.00002
NM_020778.5(ALPK3):c.235T>C (p.Phe79Leu) rs933537644 0.00002
NM_020778.5(ALPK3):c.2527C>T (p.Arg843Trp) rs367609681 0.00002
NM_020778.5(ALPK3):c.2848C>T (p.Arg950Trp) rs762163130 0.00002
NM_020778.5(ALPK3):c.3025C>T (p.Arg1009Trp) rs765812547 0.00002
NM_020778.5(ALPK3):c.3154C>T (p.Arg1052Cys) rs745957839 0.00002
NM_020778.5(ALPK3):c.3466C>T (p.Pro1156Ser) rs772697378 0.00002
NM_020778.5(ALPK3):c.355C>T (p.Arg119Cys) rs766905744 0.00002
NM_020778.5(ALPK3):c.3580C>T (p.Arg1194Trp) rs369492331 0.00002
NM_020778.5(ALPK3):c.4096T>A (p.Leu1366Met) rs777438509 0.00002
NM_020778.5(ALPK3):c.4267G>T (p.Ala1423Ser) rs750010018 0.00002
NM_020778.5(ALPK3):c.4318C>T (p.Arg1440Cys) rs200672174 0.00002
NM_020778.5(ALPK3):c.4469G>A (p.Arg1490Gln) rs752155273 0.00002
NM_020778.5(ALPK3):c.5108G>A (p.Gly1703Asp) rs1239606869 0.00002
NM_020778.5(ALPK3):c.877C>A (p.Leu293Met) rs377439661 0.00002
NM_021167.5(GATAD1):c.406A>G (p.Ile136Val) rs200665705 0.00002
NM_022436.3(ABCG5):c.1121G>C (p.Arg374Thr) rs770254073 0.00002
NM_022436.3(ABCG5):c.827C>T (p.Thr276Met) rs368800131 0.00002
NM_022436.3(ABCG5):c.900C>G (p.Phe300Leu) rs748009304 0.00002
NM_022437.3(ABCG8):c.1516G>T (p.Ala506Ser) rs777346950 0.00002
NM_022437.3(ABCG8):c.1807C>G (p.Leu603Val) rs763348699 0.00002
NM_022773.4(LMF1):c.1219G>A (p.Gly407Arg) rs376753256 0.00002
NM_024301.5(FKRP):c.187G>A (p.Val63Met) rs955514933 0.00002
NM_024301.5(FKRP):c.344C>T (p.Ser115Leu) rs752018916 0.00002
NM_024301.5(FKRP):c.554C>T (p.Ala185Val) rs1032563159 0.00002
NM_024301.5(FKRP):c.628C>G (p.Leu210Val) rs778472624 0.00002
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala) rs921829148 0.00002
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp) rs1365712686 0.00002
NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu) rs730880227 0.00002
NM_024334.3(TMEM43):c.1184C>G (p.Pro395Arg) rs1169613716 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.747C>T (p.Ser249=) rs549809535 0.00002
NM_024422.6(DSC2):c.1667G>A (p.Gly556Glu) rs977269905 0.00002
NM_024422.6(DSC2):c.1862G>T (p.Arg621Ile) rs1225904818 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.965A>G (p.Lys322Arg) rs1157312147 0.00002
NM_030662.4(MAP2K2):c.952A>G (p.Ile318Val) rs1064797064 0.00002
NM_032578.4(MYPN):c.1096T>C (p.Ser366Pro) rs535795936 0.00002
NM_032578.4(MYPN):c.1105G>A (p.Asp369Asn) rs764775347 0.00002
NM_032578.4(MYPN):c.1483+1G>A rs112016439 0.00002
NM_032578.4(MYPN):c.2189C>T (p.Thr730Met) rs373040567 0.00002
NM_032578.4(MYPN):c.2246G>A (p.Ser749Asn) rs780085391 0.00002
NM_032578.4(MYPN):c.2428C>T (p.Arg810Cys) rs369380120 0.00002
NM_032578.4(MYPN):c.2695A>C (p.Asn899His) rs774900760 0.00002
NM_032578.4(MYPN):c.281C>G (p.Thr94Ser) rs377389861 0.00002
NM_032578.4(MYPN):c.2869A>G (p.Thr957Ala) rs778178863 0.00002
NM_032578.4(MYPN):c.3130C>T (p.Arg1044Trp) rs565591812 0.00002
NM_032578.4(MYPN):c.3131G>A (p.Arg1044Gln) rs142874859 0.00002
NM_032578.4(MYPN):c.3350C>T (p.Ala1117Val) rs762950668 0.00002
NM_032578.4(MYPN):c.3394C>T (p.Leu1132Phe) rs753388438 0.00002
NM_032578.4(MYPN):c.3485C>G (p.Ser1162Cys) rs548754907 0.00002
NM_032578.4(MYPN):c.3911C>T (p.Thr1304Met) rs749719592 0.00002
NM_032578.4(MYPN):c.641C>T (p.Pro214Leu) rs1406498336 0.00002
NM_032578.4(MYPN):c.986C>T (p.Ala329Val) rs146148277 0.00002
NM_033337.3(CAV3):c.401C>T (p.Ala134Val) rs201267913 0.00002
NM_033337.3(CAV3):c.55T>C (p.Cys19Arg) rs760170984 0.00002
NM_130468.4(CHST14):c.143C>T (p.Ala48Val) rs780919131 0.00002
NM_130468.4(CHST14):c.250C>A (p.Arg84Ser) rs561964206 0.00002
NM_130468.4(CHST14):c.293G>A (p.Gly98Glu) rs770839880 0.00002
NM_144573.4(NEXN):c.1046G>C (p.Arg349Thr) rs898035834 0.00002
NM_144573.4(NEXN):c.1400T>C (p.Ile467Thr) rs370195451 0.00002
NM_144573.4(NEXN):c.1615C>T (p.Arg539Cys) rs373680705 0.00002
NM_144573.4(NEXN):c.1A>C (p.Met1Leu) rs749167943 0.00002
NM_144573.4(NEXN):c.2021A>C (p.Lys674Thr) rs886046535 0.00002
NM_144573.4(NEXN):c.783C>G (p.Asn261Lys) rs368545006 0.00002
NM_144573.4(NEXN):c.871G>A (p.Glu291Lys) rs770120245 0.00002
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn) rs373377525 0.00002
NM_152594.3(SPRED1):c.1000C>T (p.Arg334Cys) rs765603808 0.00002
NM_152594.3(SPRED1):c.875A>G (p.Tyr292Cys) rs201933663 0.00002
NM_152594.3(SPRED1):c.887G>A (p.Cys296Tyr) rs200974459 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.149G>A (p.Arg50His) rs60695352 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.1960C>T (p.Arg654Ter) rs267607544 0.00002
NM_170707.4(LMNA):c.290A>C (p.Lys97Thr) rs1060502216 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.977C>T (p.Ser326Leu) rs745540806 0.00002
NM_172201.2(KCNE2):c.281A>G (p.Glu94Gly) rs74424227 0.00002
NM_174934.4(SCN4B):c.34G>A (p.Ala12Thr) rs752598271 0.00002
NM_174934.4(SCN4B):c.533T>C (p.Ile178Thr) rs746641404 0.00002
NM_174934.4(SCN4B):c.594-2A>G rs375535030 0.00002
NM_174936.4(PCSK9):c.1915C>G (p.Pro639Ala) rs758249397 0.00002
NM_174936.4(PCSK9):c.1960T>C (p.Cys654Arg) rs762968029 0.00002
NM_174936.4(PCSK9):c.1981G>A (p.Val661Ile) rs375541628 0.00002
NM_174936.4(PCSK9):c.1991C>T (p.Thr664Ile) rs369851423 0.00002
NM_174936.4(PCSK9):c.2003G>T (p.Ser668Ile) rs1235101437 0.00002
NM_174936.4(PCSK9):c.526G>A (p.Gly176Arg) rs141135099 0.00002
NM_201596.3(CACNB2):c.1123G>A (p.Ala375Thr) rs552868927 0.00002
NM_201596.3(CACNB2):c.1124C>T (p.Ala375Val) rs578106427 0.00002
NM_201596.3(CACNB2):c.1654C>A (p.Gln552Lys) rs1339855749 0.00002
NM_201596.3(CACNB2):c.1779G>C (p.Glu593Asp) rs1045331277 0.00002
NM_201596.3(CACNB2):c.1879C>T (p.Arg627Cys) rs753259405 0.00002
NM_201596.3(CACNB2):c.1937G>A (p.Arg646Gln) rs374454040 0.00002
NM_201596.3(CACNB2):c.485G>A (p.Arg162Gln) rs144461906 0.00002
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu) rs748123979 0.00001
NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp) rs768072967 0.00001
NM_000020.3(ACVRL1):c.191A>C (p.Gln64Pro) rs943040923 0.00001
NM_000039.3(APOA1):c.103G>A (p.Val35Met) rs1476964300 0.00001
NM_000041.4(APOE):c.167G>A (p.Arg56His) rs752790054 0.00001
NM_000088.4(COL1A1):c.1056+3G>A rs367802613 0.00001
NM_000088.4(COL1A1):c.1161C>A (p.Asn387Lys) rs899337697 0.00001
NM_000088.4(COL1A1):c.1423C>A (p.Pro475Thr) rs1394634754 0.00001
NM_000088.4(COL1A1):c.1492G>A (p.Ala498Thr) rs1051473344 0.00001
NM_000088.4(COL1A1):c.1875+3G>T rs138164489 0.00001
NM_000088.4(COL1A1):c.2204C>T (p.Ala735Val) rs990375606 0.00001
NM_000088.4(COL1A1):c.2464C>G (p.Gln822Glu) rs72651668 0.00001
NM_000088.4(COL1A1):c.2602G>A (p.Ala868Thr) rs779846520 0.00001
NM_000088.4(COL1A1):c.3176C>T (p.Pro1059Leu) rs547798347 0.00001
NM_000088.4(COL1A1):c.3619G>A (p.Glu1207Lys) rs746671446 0.00001
NM_000088.4(COL1A1):c.3733A>T (p.Ile1245Phe) rs199514372 0.00001
NM_000088.4(COL1A1):c.3994G>A (p.Asp1332Asn) rs754984293 0.00001
NM_000088.4(COL1A1):c.628G>A (p.Glu210Lys) rs766407680 0.00001
NM_000089.4(COL1A2):c.1076A>G (p.Asn359Ser) rs755584404 0.00001
NM_000089.4(COL1A2):c.1214G>A (p.Arg405His) rs368702549 0.00001
NM_000089.4(COL1A2):c.1502C>G (p.Thr501Ser) rs1466730398 0.00001
NM_000089.4(COL1A2):c.2079+3A>G rs1226079110 0.00001
NM_000089.4(COL1A2):c.2356A>C (p.Thr786Pro) rs774233882 0.00001
NM_000089.4(COL1A2):c.2696T>C (p.Ile899Thr) rs1245765830 0.00001
NM_000089.4(COL1A2):c.3554G>A (p.Gly1185Glu) rs766941490 0.00001
NM_000089.4(COL1A2):c.455G>A (p.Arg152Gln) rs765116624 0.00001
NM_000089.4(COL1A2):c.593A>G (p.Lys198Arg) rs772672797 0.00001
NM_000089.4(COL1A2):c.674T>C (p.Val225Ala) rs1210318478 0.00001
NM_000090.4(COL3A1):c.4300C>T (p.Arg1434Cys) rs747324731 0.00001
NM_000090.4(COL3A1):c.508G>A (p.Ala170Thr) rs374476865 0.00001
NM_000116.5(TAFAZZIN):c.460+1G>A rs878853655 0.00001
NM_000117.3(EMD):c.103G>A (p.Glu35Lys) rs782222974 0.00001
NM_000117.3(EMD):c.242A>G (p.Asp81Gly) rs1557182377 0.00001
NM_000117.3(EMD):c.359C>T (p.Ser120Leu) rs782038352 0.00001
NM_000117.3(EMD):c.436G>A (p.Glu146Lys) rs782732591 0.00001
NM_000138.5(FBN1):c.287G>C (p.Arg96Thr) rs794728291 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.4007A>G (p.His1336Arg) rs886038781 0.00001
NM_000138.5(FBN1):c.6932G>A (p.Arg2311His) rs141868829 0.00001
NM_000138.5(FBN1):c.7949A>G (p.Asn2650Ser) rs756819682 0.00001
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr) rs752507985 0.00001
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu) rs755618776 0.00001
NM_000152.5(GAA):c.2521A>G (p.Met841Val) rs1184116513 0.00001
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu) rs1343332597 0.00001
NM_000152.5(GAA):c.347G>T (p.Gly116Val) rs754285414 0.00001
NM_000152.5(GAA):c.70G>A (p.Ala24Thr) rs139716763 0.00001
NM_000152.5(GAA):c.745T>C (p.Ser249Pro) rs1386718298 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000169.3(GLA):c.313A>G (p.Arg105Gly) rs782092398 0.00001
NM_000169.3(GLA):c.616C>G (p.Leu206Val) rs730880448 0.00001
NM_000169.3(GLA):c.724A>G (p.Ile242Val) rs397515873 0.00001
NM_000214.3(JAG1):c.1057G>C (p.Glu353Gln) rs1600185499 0.00001
NM_000214.3(JAG1):c.1117A>G (p.Thr373Ala) rs1212026437 0.00001
NM_000214.3(JAG1):c.1444G>A (p.Asp482Asn) rs766370717 0.00001
NM_000214.3(JAG1):c.1475C>T (p.Ala492Val) rs200250528 0.00001
NM_000214.3(JAG1):c.2234A>C (p.Asn745Thr) rs1314917198 0.00001
NM_000214.3(JAG1):c.2305G>A (p.Val769Ile) rs754301929 0.00001
NM_000214.3(JAG1):c.2393T>A (p.Val798Glu) rs1308346607 0.00001
NM_000214.3(JAG1):c.2414G>A (p.Arg805Gln) rs774372899 0.00001
NM_000214.3(JAG1):c.2528G>A (p.Arg843Gln) rs751448440 0.00001
NM_000214.3(JAG1):c.2767G>A (p.Asp923Asn) rs775240101 0.00001
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile) rs770415804 0.00001
NM_000214.3(JAG1):c.2876C>T (p.Ala959Val) rs747802983 0.00001
NM_000214.3(JAG1):c.2998A>G (p.Ile1000Val) rs773974344 0.00001
NM_000214.3(JAG1):c.3083T>G (p.Ile1028Ser) rs761187116 0.00001
NM_000214.3(JAG1):c.3286C>T (p.Arg1096Trp) rs537986153 0.00001
NM_000214.3(JAG1):c.3290G>A (p.Arg1097Gln) rs1462490364 0.00001
NM_000214.3(JAG1):c.3347G>A (p.Arg1116Gln) rs908755268 0.00001
NM_000214.3(JAG1):c.3452C>A (p.Thr1151Lys) rs1362853052 0.00001
NM_000214.3(JAG1):c.3506G>A (p.Arg1169Gln) rs1268561604 0.00001
NM_000214.3(JAG1):c.3524C>T (p.Ala1175Val) rs918046091 0.00001
NM_000214.3(JAG1):c.448A>G (p.Ser150Gly) rs1229047867 0.00001
NM_000214.3(JAG1):c.860A>G (p.Asn287Ser) rs768317581 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1132G>A (p.Ala378Thr) rs756571615 0.00001
NM_000218.3(KCNQ1):c.1142G>A (p.Cys381Tyr) rs368507376 0.00001
NM_000218.3(KCNQ1):c.1190G>A (p.Arg397Gln) rs374090960 0.00001
NM_000218.3(KCNQ1):c.1198C>G (p.Pro400Ala) rs1489132337 0.00001
NM_000218.3(KCNQ1):c.1286A>G (p.Asn429Ser) rs1464968488 0.00001
NM_000218.3(KCNQ1):c.1336G>A (p.Asp446Asn) rs149089817 0.00001
NM_000218.3(KCNQ1):c.1348G>A (p.Glu450Lys) rs148266527 0.00001
NM_000218.3(KCNQ1):c.1351C>T (p.Arg451Trp) rs199472782 0.00001
NM_000218.3(KCNQ1):c.1464C>A (p.Asp488Glu) rs778041701 0.00001
NM_000218.3(KCNQ1):c.1498A>G (p.Ile500Val) rs189794855 0.00001
NM_000218.3(KCNQ1):c.1520G>A (p.Arg507Gln) rs369571296 0.00001
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp) rs199472793 0.00001
NM_000218.3(KCNQ1):c.1598G>A (p.Arg533Gln) rs574321120 0.00001
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821 0.00001
NM_000218.3(KCNQ1):c.1904G>A (p.Gly635Glu) rs939431028 0.00001
NM_000218.3(KCNQ1):c.1999G>A (p.Val667Met) rs776119582 0.00001
NM_000218.3(KCNQ1):c.287C>G (p.Thr96Arg) rs1337409061 0.00001
NM_000218.3(KCNQ1):c.437A>G (p.Glu146Gly) rs914460959 0.00001
NM_000218.3(KCNQ1):c.506C>T (p.Thr169Met) rs199472693 0.00001
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) rs199472694 0.00001
NM_000218.3(KCNQ1):c.541C>T (p.Arg181Cys) rs199473395 0.00001
NM_000218.3(KCNQ1):c.559C>T (p.Leu187Phe) rs1282771390 0.00001
NM_000218.3(KCNQ1):c.574C>T (p.Arg192Cys) rs775059928 0.00001
NM_000218.3(KCNQ1):c.575G>A (p.Arg192His) rs199472698 0.00001
NM_000218.3(KCNQ1):c.64G>C (p.Gly22Arg) rs794728545 0.00001
NM_000218.3(KCNQ1):c.684-5C>T rs1212611138 0.00001
NM_000218.3(KCNQ1):c.698T>C (p.Leu233Pro) rs780236727 0.00001
NM_000218.3(KCNQ1):c.70C>T (p.Arg24Trp) rs990778345 0.00001
NM_000218.3(KCNQ1):c.721G>A (p.Val241Ile) rs199956744 0.00001
NM_000218.3(KCNQ1):c.827C>T (p.Ser276Phe) rs794728514 0.00001
NM_000218.3(KCNQ1):c.985G>A (p.Ala329Thr) rs543428644 0.00001
NM_000219.6(KCNE1):c.242A>G (p.Tyr81Cys) rs199473359 0.00001
NM_000219.6(KCNE1):c.94C>T (p.Arg32Cys) rs200963514 0.00001
NM_000229.2(LCAT):c.110C>T (p.Thr37Met) rs971887742 0.00001
NM_000237.3(LPL):c.1051G>A (p.Gly351Arg) rs772132247 0.00001
NM_000237.3(LPL):c.1373C>T (p.Ala458Val) rs140236957 0.00001
NM_000238.4(KCNH2):c.1128+1810C>T rs972201049 0.00001
NM_000238.4(KCNH2):c.1190G>A (p.Arg397His) rs368817970 0.00001
NM_000238.4(KCNH2):c.138C>G (p.Asp46Glu) rs752503743 0.00001
NM_000238.4(KCNH2):c.1426G>A (p.Val476Ile) rs199472908 0.00001
NM_000238.4(KCNH2):c.1447G>A (p.Val483Ile) rs755834128 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.1582C>T (p.Arg528Trp) rs864622403 0.00001
NM_000238.4(KCNH2):c.1781G>A (p.Gly594Asp) rs199472931 0.00001
NM_000238.4(KCNH2):c.2046G>C (p.Glu682Asp) rs1338579153 0.00001
NM_000238.4(KCNH2):c.2054G>A (p.Arg685His) rs758751607 0.00001
NM_000238.4(KCNH2):c.2080C>T (p.Arg694Cys) rs765717858 0.00001
NM_000238.4(KCNH2):c.2122A>G (p.Thr708Ala) rs1554425463 0.00001
NM_000238.4(KCNH2):c.2231G>A (p.Arg744Gln) rs1264176305 0.00001
NM_000238.4(KCNH2):c.2332G>A (p.Ala778Thr) rs769076001 0.00001
NM_000238.4(KCNH2):c.2350C>T (p.Arg784Trp) rs12720441 0.00001
NM_000238.4(KCNH2):c.2380G>A (p.Val794Ile) rs565006344 0.00001
NM_000238.4(KCNH2):c.2588G>A (p.Arg863Gln) rs939435672 0.00001
NM_000238.4(KCNH2):c.2606C>T (p.Pro869Leu) rs763031434 0.00001
NM_000238.4(KCNH2):c.2680C>T (p.Arg894Cys) rs199473433 0.00001
NM_000238.4(KCNH2):c.26C>T (p.Ala9Val) rs775317201 0.00001
NM_000238.4(KCNH2):c.2734C>T (p.Arg912Trp) rs577847157 0.00001
NM_000238.4(KCNH2):c.2956C>A (p.Pro986Thr) rs1261949255 0.00001
NM_000238.4(KCNH2):c.3019C>T (p.Arg1007Cys) rs1224504959 0.00001
NM_000238.4(KCNH2):c.3053C>T (p.Pro1018Leu) rs866657878 0.00001
NM_000238.4(KCNH2):c.3079C>A (p.Leu1027Ile) rs794728346 0.00001
NM_000238.4(KCNH2):c.3211A>G (p.Met1071Val) rs555797304 0.00001
NM_000238.4(KCNH2):c.3215C>T (p.Thr1072Met) rs781624566 0.00001
NM_000238.4(KCNH2):c.3251C>T (p.Pro1084Leu) rs762510312 0.00001
NM_000238.4(KCNH2):c.3314T>C (p.Leu1105Ser) rs757147615 0.00001
NM_000238.4(KCNH2):c.3320C>T (p.Ser1107Leu) rs1303580599 0.00001
NM_000238.4(KCNH2):c.3394C>G (p.Pro1132Ala) rs786205422 0.00001
NM_000238.4(KCNH2):c.3400C>T (p.Arg1134Ter) rs965259777 0.00001
NM_000238.4(KCNH2):c.343G>A (p.Val115Met) rs150988911 0.00001
NM_000238.4(KCNH2):c.3448C>A (p.Leu1150Met) rs754883792 0.00001
NM_000238.4(KCNH2):c.3453C>A (p.His1151Gln) rs531426751 0.00001
NM_000238.4(KCNH2):c.3469C>T (p.Pro1157Ser) rs1449906095 0.00001
NM_000238.4(KCNH2):c.38C>A (p.Thr13Asn) rs758978727 0.00001
NM_000238.4(KCNH2):c.449C>T (p.Pro150Leu) rs866485757 0.00001
NM_000238.4(KCNH2):c.473-5C>T rs1181633993 0.00001
NM_000238.4(KCNH2):c.476G>A (p.Arg159His) rs1016201425 0.00001
NM_000238.4(KCNH2):c.478G>T (p.Ala160Ser) rs1210130846 0.00001
NM_000238.4(KCNH2):c.563C>T (p.Ala188Val) rs794728356 0.00001
NM_000238.4(KCNH2):c.652A>G (p.Met218Val) rs199472869 0.00001
NM_000238.4(KCNH2):c.692G>A (p.Arg231Gln) rs1383803455 0.00001
NM_000238.4(KCNH2):c.736G>T (p.Gly246Cys) rs1057520689 0.00001
NM_000238.4(KCNH2):c.773C>T (p.Pro258Leu) rs1367019959 0.00001
NM_000238.4(KCNH2):c.779C>T (p.Ala260Val) rs1228602666 0.00001
NM_000238.4(KCNH2):c.877G>A (p.Ala293Thr) rs794728362 0.00001
NM_000238.4(KCNH2):c.916+3G>A rs1554427591 0.00001
NM_000238.4(KCNH2):c.935G>A (p.Arg312His) rs747313232 0.00001
NM_000238.4(KCNH2):c.976C>T (p.Arg326Cys) rs759079349 0.00001
NM_000256.3(MYBPC3):c.1003C>T (p.Arg335Cys) rs730880630 0.00001
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His) rs199741162 0.00001
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met) rs772073491 0.00001
NM_000256.3(MYBPC3):c.11C>T (p.Pro4Leu) rs748689012 0.00001
NM_000256.3(MYBPC3):c.1219G>A (p.Gly407Ser) rs727505266 0.00001
NM_000256.3(MYBPC3):c.122G>A (p.Arg41His) rs764849803 0.00001
NM_000256.3(MYBPC3):c.1357C>G (p.Pro453Ala) rs749310275 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.1409G>A (p.Arg470Gln) rs776734314 0.00001
NM_000256.3(MYBPC3):c.1457+5G>A rs727503202 0.00001
NM_000256.3(MYBPC3):c.1459C>A (p.Leu487Met) rs771741441 0.00001
NM_000256.3(MYBPC3):c.1471G>A (p.Val491Met) rs730880543 0.00001
NM_000256.3(MYBPC3):c.1549G>T (p.Ala517Ser) rs1565627873 0.00001
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val) rs730880694 0.00001
NM_000256.3(MYBPC3):c.1765C>T (p.Arg589Cys) rs1329919535 0.00001
NM_000256.3(MYBPC3):c.1766G>A (p.Arg589His) rs397515923 0.00001
NM_000256.3(MYBPC3):c.1805C>T (p.Thr602Ile) rs730880551 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.1899G>A (p.Glu633=) rs1206508060 0.00001
NM_000256.3(MYBPC3):c.1976T>C (p.Ile659Thr) rs397515941 0.00001
NM_000256.3(MYBPC3):c.2002C>T (p.Arg668Cys) rs730880561 0.00001
NM_000256.3(MYBPC3):c.2035C>T (p.Pro679Ser) rs372493586 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.2300A>G (p.Lys767Arg) rs760786216 0.00001
NM_000256.3(MYBPC3):c.2307C>T (p.Ile769=) rs775491112 0.00001
NM_000256.3(MYBPC3):c.2309-4C>T rs942669152 0.00001
NM_000256.3(MYBPC3):c.2336A>G (p.Lys779Arg) rs774512738 0.00001
NM_000256.3(MYBPC3):c.2351G>C (p.Gly784Ala) rs931275955 0.00001
NM_000256.3(MYBPC3):c.2399G>A (p.Gly800Glu) rs1273374175 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.2512G>C (p.Glu838Gln) rs397515969 0.00001
NM_000256.3(MYBPC3):c.2536G>A (p.Val846Ile) rs747774791 0.00001
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) rs727503185 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.2671C>T (p.Arg891Trp) rs727504418 0.00001
NM_000256.3(MYBPC3):c.2716G>A (p.Val906Met) rs774634021 0.00001
NM_000256.3(MYBPC3):c.271G>A (p.Asp91Asn) rs778851720 0.00001
NM_000256.3(MYBPC3):c.2771C>T (p.Thr924Ile) rs200406864 0.00001
NM_000256.3(MYBPC3):c.2815C>T (p.Arg939Trp) rs534366414 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.2927C>G (p.Pro976Arg) rs954096716 0.00001
NM_000256.3(MYBPC3):c.3037C>G (p.Pro1013Ala) rs965977966 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.3142C>T (p.Arg1048Cys) rs11570113 0.00001
NM_000256.3(MYBPC3):c.314C>T (p.Ala105Val) rs1595850245 0.00001
NM_000256.3(MYBPC3):c.3190+3G>A rs536826395 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.3277G>T (p.Gly1093Cys) rs727503173 0.00001
NM_000256.3(MYBPC3):c.3295G>C (p.Gly1099Arg) rs1064794364 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.344G>A (p.Gly115Glu) rs1555123616 0.00001
NM_000256.3(MYBPC3):c.3457A>T (p.Thr1153Ser) rs746297609 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.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.364G>A (p.Ala122Thr) rs754633960 0.00001
NM_000256.3(MYBPC3):c.3661C>G (p.Leu1221Val) rs1351250957 0.00001
NM_000256.3(MYBPC3):c.3677G>A (p.Arg1226His) rs397516034 0.00001
NM_000256.3(MYBPC3):c.3746G>A (p.Gly1249Asp) rs727504259 0.00001
NM_000256.3(MYBPC3):c.3781G>A (p.Glu1261Lys) rs730880141 0.00001
NM_000256.3(MYBPC3):c.3810G>A (p.Val1270=) rs1255638075 0.00001
NM_000256.3(MYBPC3):c.3812G>A (p.Arg1271Gln) rs762225417 0.00001
NM_000256.3(MYBPC3):c.3818C>T (p.Pro1273Leu) rs369184972 0.00001
NM_000256.3(MYBPC3):c.394C>T (p.Pro132Ser) rs1042129854 0.00001
NM_000256.3(MYBPC3):c.400C>T (p.Pro134Ser) rs1233789701 0.00001
NM_000256.3(MYBPC3):c.406+5G>C rs757353079 0.00001
NM_000256.3(MYBPC3):c.407G>C (p.Gly136Ala) rs1337388106 0.00001
NM_000256.3(MYBPC3):c.408G>C (p.Gly136=) rs1057520977 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.466C>G (p.Leu156Val) rs1001923615 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.553A>C (p.Lys185Gln) rs375607980 0.00001
NM_000256.3(MYBPC3):c.721G>C (p.Val241Leu) rs886039000 0.00001
NM_000256.3(MYBPC3):c.739T>C (p.Phe247Leu) rs372574446 0.00001
NM_000256.3(MYBPC3):c.745T>C (p.Cys249Arg) rs397516071 0.00001
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys) rs551119259 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.1305G>A (p.Met435Ile) rs863224644 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.1681G>A (p.Ala561Thr) rs730880878 0.00001
NM_000257.4(MYH7):c.1699C>T (p.Arg567Cys) rs771771163 0.00001
NM_000257.4(MYH7):c.1700G>A (p.Arg567His) rs377491278 0.00001
NM_000257.4(MYH7):c.1807G>A (p.Glu603Lys) rs1038661561 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.2135G>T (p.Arg712Leu) rs1224554825 0.00001
NM_000257.4(MYH7):c.2137A>G (p.Ile713Val) rs1339799654 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 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.2378G>A (p.Arg793Gln) rs730880896 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.2573G>A (p.Arg858His) rs2856897 0.00001
NM_000257.4(MYH7):c.2578A>G (p.Lys860Glu) rs759225115 0.00001
NM_000257.4(MYH7):c.2682A>C (p.Glu894Asp) rs1452212789 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.2908G>A (p.Ala970Thr) rs1446657813 0.00001
NM_000257.4(MYH7):c.2974C>A (p.Leu992Met) rs149840927 0.00001
NM_000257.4(MYH7):c.3010C>G (p.Gln1004Glu) rs730880762 0.00001
NM_000257.4(MYH7):c.3028C>T (p.Leu1010Phe) rs768312155 0.00001
NM_000257.4(MYH7):c.3110C>A (p.Ser1037Tyr) rs1159928168 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.3225G>C (p.Gln1075His) rs767369809 0.00001
NM_000257.4(MYH7):c.3235C>T (p.Arg1079Trp) rs192722540 0.00001
NM_000257.4(MYH7):c.3241A>G (p.Lys1081Glu) rs730880771 0.00001
NM_000257.4(MYH7):c.3245+3A>T rs727505355 0.00001
NM_000257.4(MYH7):c.328G>A (p.Gly110Ser) rs763893822 0.00001
NM_000257.4(MYH7):c.3455A>T (p.Glu1152Val) rs397516184 0.00001
NM_000257.4(MYH7):c.3457G>A (p.Ala1153Thr) rs774812187 0.00001
NM_000257.4(MYH7):c.3464G>A (p.Gly1155Glu) rs397516186 0.00001
NM_000257.4(MYH7):c.3483C>G (p.Ile1161Met) rs778909719 0.00001
NM_000257.4(MYH7):c.3487A>G (p.Met1163Val) rs748972327 0.00001
NM_000257.4(MYH7):c.3610G>C (p.Gly1204Arg) rs397516188 0.00001
NM_000257.4(MYH7):c.3734T>A (p.Leu1245Gln) rs397516192 0.00001
NM_000257.4(MYH7):c.37G>A (p.Ala13Thr) rs759231966 0.00001
NM_000257.4(MYH7):c.3866G>A (p.Arg1289Gln) rs1287612987 0.00001
NM_000257.4(MYH7):c.3977A>G (p.Lys1326Arg) rs730880786 0.00001
NM_000257.4(MYH7):c.4004C>T (p.Ser1335Leu) rs397516199 0.00001
NM_000257.4(MYH7):c.4021G>A (p.Asp1341Asn) rs746724436 0.00001
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys) rs45451303 0.00001
NM_000257.4(MYH7):c.4186C>T (p.Arg1396Trp) rs730880793 0.00001
NM_000257.4(MYH7):c.4343A>T (p.Asn1448Ile) rs753484341 0.00001
NM_000257.4(MYH7):c.4390C>T (p.Gln1464Ter) rs754829218 0.00001
NM_000257.4(MYH7):c.4440G>T (p.Glu1480Asp) rs1351661186 0.00001
NM_000257.4(MYH7):c.4450C>A (p.Leu1484Ile) rs1555336651 0.00001
NM_000257.4(MYH7):c.4459G>A (p.Ala1487Thr) rs766909770 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 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.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.4823G>A (p.Arg1608His) rs587779391 0.00001
NM_000257.4(MYH7):c.4864C>T (p.Leu1622Phe) rs397516231 0.00001
NM_000257.4(MYH7):c.4984C>T (p.Arg1662Cys) rs773977507 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.5030G>A (p.Arg1677His) rs730880914 0.00001
NM_000257.4(MYH7):c.5037C>G (p.Asn1679Lys) rs1358888752 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.5191G>A (p.Asp1731Asn) rs876657885 0.00001
NM_000257.4(MYH7):c.5203T>A (p.Ser1735Thr) rs144066768 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.530C>T (p.Thr177Ile) rs752930302 0.00001
NM_000257.4(MYH7):c.531-5C>T rs397516243 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.541G>A (p.Gly181Arg) rs760187215 0.00001
NM_000257.4(MYH7):c.5450C>T (p.Ala1817Val) rs1469786429 0.00001
NM_000257.4(MYH7):c.5452C>T (p.Arg1818Trp) rs763073072 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.5530G>A (p.Glu1844Lys) rs730880821 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.5671A>G (p.Thr1891Ala) rs1295948508 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.5774G>A (p.Arg1925His) rs752553589 0.00001
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys) rs397516259 0.00001
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln) rs727504273 0.00001
NM_000257.4(MYH7):c.664C>A (p.Gln222Lys) rs1060501445 0.00001
NM_000257.4(MYH7):c.821T>C (p.Ile274Thr) rs773456019 0.00001
NM_000257.4(MYH7):c.898A>T (p.Met300Leu) rs759998697 0.00001
NM_000258.3(MYL3):c.106G>A (p.Glu36Lys) rs749941468 0.00001
NM_000258.3(MYL3):c.194C>G (p.Pro65Arg) rs730880955 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.32A>T (p.Asp11Val) rs1227232995 0.00001
NM_000258.3(MYL3):c.433A>G (p.Asn145Asp) rs1204710752 0.00001
NM_000258.3(MYL3):c.575dup (p.Met193fs) rs757730888 0.00001
NM_000258.3(MYL3):c.70G>A (p.Ala24Thr) rs758048820 0.00001
NM_000258.3(MYL3):c.71C>T (p.Ala24Val) rs373278317 0.00001
NM_000258.3(MYL3):c.73C>T (p.Pro25Ser) rs369256548 0.00001
NM_000335.5(SCN5A):c.1036G>A (p.Glu346Lys) rs368552426 0.00001
NM_000335.5(SCN5A):c.1051G>A (p.Gly351Ser) rs201276017 0.00001
NM_000335.5(SCN5A):c.1141-4C>T rs794728840 0.00001
NM_000335.5(SCN5A):c.1297C>T (p.Arg433Cys) rs374866214 0.00001
NM_000335.5(SCN5A):c.1298G>A (p.Arg433His) rs879035421 0.00001
NM_000335.5(SCN5A):c.1313T>C (p.Met438Thr) rs41311061 0.00001
NM_000335.5(SCN5A):c.1324A>G (p.Lys442Glu) rs1293526829 0.00001
NM_000335.5(SCN5A):c.1398G>T (p.Leu466Phe) rs776541865 0.00001
NM_000335.5(SCN5A):c.1405G>A (p.Val469Ile) rs371911318 0.00001
NM_000335.5(SCN5A):c.1537C>T (p.Arg513Cys) rs145733679 0.00001
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121 0.00001
NM_000335.5(SCN5A):c.1613G>A (p.Gly538Asp) rs779486899 0.00001
NM_000335.5(SCN5A):c.1670A>T (p.His557Leu) rs1026788049 0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val) rs757119370 0.00001
NM_000335.5(SCN5A):c.1873G>C (p.Glu625Gln) rs201552126 0.00001
NM_000335.5(SCN5A):c.1946G>A (p.Cys649Tyr) rs1380959630 0.00001
NM_000335.5(SCN5A):c.1951G>C (p.Asp651His) rs794728927 0.00001
NM_000335.5(SCN5A):c.2038C>T (p.Arg680Cys) rs376173627 0.00001
NM_000335.5(SCN5A):c.203A>G (p.Tyr68Cys) rs1382838539 0.00001
NM_000335.5(SCN5A):c.2081A>G (p.Tyr694Cys) rs1438675647 0.00001
NM_000335.5(SCN5A):c.209A>G (p.Asn70Ser) rs368357262 0.00001
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys) rs199473582 0.00001
NM_000335.5(SCN5A):c.2353G>A (p.Asp785Asn) rs2061686855 0.00001
NM_000335.5(SCN5A):c.2398C>T (p.Arg800Cys) rs764252430 0.00001
NM_000335.5(SCN5A):c.2399G>A (p.Arg800His) rs566251672 0.00001
NM_000335.5(SCN5A):c.2432G>A (p.Arg811His) rs769349991 0.00001
NM_000335.5(SCN5A):c.2437-3C>T rs1289539591 0.00001
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00001
NM_000335.5(SCN5A):c.2506G>A (p.Val836Met) rs768289937 0.00001
NM_000335.5(SCN5A):c.2548G>A (p.Val850Met) rs911293694 0.00001
NM_000335.5(SCN5A):c.2570G>A (p.Gly857Asp) rs757302500 0.00001
NM_000335.5(SCN5A):c.2614G>A (p.Asp872Asn) rs763396298 0.00001
NM_000335.5(SCN5A):c.2708T>C (p.Met903Thr) rs1341909190 0.00001
NM_000335.5(SCN5A):c.2859C>G (p.Asp953Glu) rs762818132 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.2912G>A (p.Arg971His) rs749651069 0.00001
NM_000335.5(SCN5A):c.2977G>A (p.Ala993Thr) rs770088052 0.00001
NM_000335.5(SCN5A):c.3020C>T (p.Thr1007Ile) rs763935970 0.00001
NM_000335.5(SCN5A):c.3061C>T (p.Pro1021Ser) rs794728871 0.00001
NM_000335.5(SCN5A):c.3079C>T (p.Arg1027Trp) rs1455337011 0.00001
NM_000335.5(SCN5A):c.3133G>A (p.Val1045Met) rs527480102 0.00001
NM_000335.5(SCN5A):c.3282G>T (p.Trp1094Cys) rs759924541 0.00001
NM_000335.5(SCN5A):c.3365C>T (p.Pro1122Leu) rs1447666161 0.00001
NM_000335.5(SCN5A):c.3503C>T (p.Thr1168Ile) rs779305181 0.00001
NM_000335.5(SCN5A):c.3601G>A (p.Val1201Met) rs375509048 0.00001
NM_000335.5(SCN5A):c.3659C>T (p.Ala1220Val) rs727503407 0.00001
NM_000335.5(SCN5A):c.3947T>G (p.Phe1316Cys) rs762546813 0.00001
NM_000335.5(SCN5A):c.4218C>T (p.Ala1406=) rs373042738 0.00001
NM_000335.5(SCN5A):c.4243-4C>T rs772447988 0.00001
NM_000335.5(SCN5A):c.4297T>G (p.Tyr1433Asp) rs888787757 0.00001
NM_000335.5(SCN5A):c.4400T>C (p.Val1467Ala) rs794728883 0.00001
NM_000335.5(SCN5A):c.4497G>T (p.Lys1499Asn) rs199473265 0.00001
NM_000335.5(SCN5A):c.4670A>G (p.Asn1557Ser) rs1559725648 0.00001
NM_000335.5(SCN5A):c.4672A>G (p.Ile1558Val) rs779999584 0.00001
NM_000335.5(SCN5A):c.4804A>T (p.Ile1602Phe) rs1441099546 0.00001
NM_000335.5(SCN5A):c.4823C>T (p.Ser1608Leu) rs199473622 0.00001
NM_000335.5(SCN5A):c.5236G>A (p.Val1746Met) rs199473630 0.00001
NM_000335.5(SCN5A):c.5339A>G (p.Glu1780Gly) rs1217594631 0.00001
NM_000335.5(SCN5A):c.5375T>A (p.Met1792Lys) rs794728897 0.00001
NM_000335.5(SCN5A):c.5455G>A (p.Ala1819Thr) rs764188413 0.00001
NM_000335.5(SCN5A):c.5494A>G (p.Ile1832Val) rs1559720461 0.00001
NM_000335.5(SCN5A):c.5548A>G (p.Met1850Val) rs1270249744 0.00001
NM_000335.5(SCN5A):c.5554A>G (p.Ile1852Val) rs1348016844 0.00001
NM_000335.5(SCN5A):c.5605G>A (p.Ala1869Thr) rs794728939 0.00001
NM_000335.5(SCN5A):c.5606C>A (p.Ala1869Asp) rs727504759 0.00001
NM_000335.5(SCN5A):c.5687G>A (p.Arg1896Gln) rs761369505 0.00001
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) rs370694515 0.00001
NM_000335.5(SCN5A):c.5740C>T (p.His1914Tyr) rs762462124 0.00001
NM_000335.5(SCN5A):c.5753G>A (p.Arg1918His) rs141107387 0.00001
NM_000335.5(SCN5A):c.5762A>G (p.Lys1921Arg) rs1485680130 0.00001
NM_000335.5(SCN5A):c.5900T>G (p.Ile1967Ser) rs199473639 0.00001
NM_000335.5(SCN5A):c.5965G>C (p.Val1989Leu) rs765885732 0.00001
NM_000335.5(SCN5A):c.5984G>A (p.Ser1995Asn) rs1299022904 0.00001
NM_000335.5(SCN5A):c.6011C>T (p.Pro2004Leu) rs779649600 0.00001
NM_000335.5(SCN5A):c.6032G>A (p.Arg2011His) rs774244998 0.00001
NM_000335.5(SCN5A):c.605T>C (p.Ile202Thr) rs1469078045 0.00001
NM_000335.5(SCN5A):c.616A>T (p.Thr206Ser) rs1484635042 0.00001
NM_000335.5(SCN5A):c.680T>C (p.Leu227Pro) rs760011764 0.00001
NM_000335.5(SCN5A):c.872A>G (p.Asn291Ser) rs199473563 0.00001
NM_000335.5(SCN5A):c.934+5G>A rs201672269 0.00001
NM_000335.5(SCN5A):c.944T>C (p.Leu315Pro) rs199473564 0.00001
NM_000335.5(SCN5A):c.9C>G (p.Asn3Lys) rs377500015 0.00001
NM_000363.5(TNNI3):c.146dup (p.Lys50fs) rs1162696593 0.00001
NM_000363.5(TNNI3):c.167T>C (p.Ile56Thr) rs545441942 0.00001
NM_000363.5(TNNI3):c.250G>T (p.Glu84Ter) rs759523214 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.341T>C (p.Ile114Thr) rs762692450 0.00001
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln) rs727503506 0.00001
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp) rs730881071 0.00001
NM_000363.5(TNNI3):c.482C>T (p.Ala161Val) rs753413305 0.00001
NM_000363.5(TNNI3):c.604G>C (p.Glu202Gln) rs1470970097 0.00001
NM_000371.4(TTR):c.227A>G (p.His76Arg) rs78230119 0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) rs730881165 0.00001
NM_000371.4(TTR):c.336+5G>A rs2073511528 0.00001
NM_000371.4(TTR):c.337-3T>C rs774027595 0.00001
NM_000371.4(TTR):c.406T>C (p.Tyr136His) rs766909913 0.00001
NM_000371.4(TTR):c.65C>T (p.Pro22Leu) rs1215630426 0.00001
NM_000371.4(TTR):c.69G>A (p.Thr23=) rs752579437 0.00001
NM_000371.4(TTR):c.70-16T>C rs759512847 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000384.3(APOB):c.10132C>A (p.Gln3378Lys) rs1266425413 0.00001
NM_000384.3(APOB):c.10244G>C (p.Ser3415Thr) rs750477821 0.00001
NM_000384.3(APOB):c.10304T>C (p.Ile3435Thr) rs768980816 0.00001
NM_000384.3(APOB):c.10351A>C (p.Lys3451Gln) rs769074061 0.00001
NM_000384.3(APOB):c.10477G>A (p.Glu3493Lys) rs1251501652 0.00001
NM_000384.3(APOB):c.10486A>G (p.Thr3496Ala) rs754800464 0.00001
NM_000384.3(APOB):c.10514T>C (p.Leu3505Pro) rs977746971 0.00001
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys) rs745721296 0.00001
NM_000384.3(APOB):c.1076G>C (p.Ser359Thr) rs1156947034 0.00001
NM_000384.3(APOB):c.10807C>T (p.His3603Tyr) rs750646887 0.00001
NM_000384.3(APOB):c.11092A>G (p.Arg3698Gly) rs757756141 0.00001
NM_000384.3(APOB):c.11261C>T (p.Thr3754Ile) rs139599466 0.00001
NM_000384.3(APOB):c.11279C>T (p.Ser3760Leu) rs779036508 0.00001
NM_000384.3(APOB):c.11563A>G (p.Ile3855Val) rs762255105 0.00001
NM_000384.3(APOB):c.11575G>A (p.Glu3859Lys) rs1378283331 0.00001
NM_000384.3(APOB):c.11593C>T (p.Pro3865Ser) rs746011115 0.00001
NM_000384.3(APOB):c.11681A>T (p.Tyr3894Phe) rs775669767 0.00001
NM_000384.3(APOB):c.11929A>C (p.Asn3977His) rs761528809 0.00001
NM_000384.3(APOB):c.11989A>G (p.Ile3997Val) rs750147672 0.00001
NM_000384.3(APOB):c.12200T>C (p.Leu4067Pro) rs1165268481 0.00001
NM_000384.3(APOB):c.12343G>T (p.Val4115Phe) rs765681925 0.00001
NM_000384.3(APOB):c.12436G>A (p.Asp4146Asn) rs778195760 0.00001
NM_000384.3(APOB):c.12511G>A (p.Val4171Met) rs768472814 0.00001
NM_000384.3(APOB):c.12548A>G (p.His4183Arg) rs758266841 0.00001
NM_000384.3(APOB):c.12635C>G (p.Thr4212Ser) rs201208445 0.00001
NM_000384.3(APOB):c.12739C>T (p.Gln4247Ter) rs907126709 0.00001
NM_000384.3(APOB):c.12889C>T (p.Arg4297Cys) rs761260344 0.00001
NM_000384.3(APOB):c.12930A>G (p.Ile4310Met) rs1424419652 0.00001
NM_000384.3(APOB):c.12977T>A (p.Ile4326Asn) rs763668912 0.00001
NM_000384.3(APOB):c.12979A>T (p.Asn4327Tyr) rs755734023 0.00001
NM_000384.3(APOB):c.13422G>C (p.Gln4474His) rs146661220 0.00001
NM_000384.3(APOB):c.1349A>G (p.Asn450Ser) rs1177893034 0.00001
NM_000384.3(APOB):c.1357C>G (p.His453Asp) rs753380675 0.00001
NM_000384.3(APOB):c.148C>T (p.Arg50Trp) rs749903604 0.00001
NM_000384.3(APOB):c.1786C>T (p.His596Tyr) rs1461214675 0.00001
NM_000384.3(APOB):c.1844T>C (p.Val615Ala) rs1301197571 0.00001
NM_000384.3(APOB):c.187G>A (p.Gly63Arg) rs904819460 0.00001
NM_000384.3(APOB):c.1880T>C (p.Val627Ala) rs1295444626 0.00001
NM_000384.3(APOB):c.1904G>A (p.Arg635Gln) rs202001155 0.00001
NM_000384.3(APOB):c.2027C>T (p.Thr676Ile) rs1157714858 0.00001
NM_000384.3(APOB):c.2599G>A (p.Ala867Thr) rs764058064 0.00001
NM_000384.3(APOB):c.2691T>G (p.Ser897Arg) rs144806800 0.00001
NM_000384.3(APOB):c.2723A>G (p.Glu908Gly) rs1459816013 0.00001
NM_000384.3(APOB):c.2849C>T (p.Thr950Met) rs187506285 0.00001
NM_000384.3(APOB):c.2861C>T (p.Pro954Leu) rs148943299 0.00001
NM_000384.3(APOB):c.2864C>T (p.Pro955Leu) rs763052786 0.00001
NM_000384.3(APOB):c.3052G>A (p.Ala1018Thr) rs149357946 0.00001
NM_000384.3(APOB):c.3122G>A (p.Gly1041Asp) rs756341086 0.00001
NM_000384.3(APOB):c.3147G>C (p.Met1049Ile) rs556469321 0.00001
NM_000384.3(APOB):c.3208G>A (p.Asp1070Asn) rs368268089 0.00001
NM_000384.3(APOB):c.3400A>G (p.Arg1134Gly) rs769299791 0.00001
NM_000384.3(APOB):c.3431C>A (p.Ala1144Asp) rs758023800 0.00001
NM_000384.3(APOB):c.3671G>A (p.Arg1224Gln) rs530511188 0.00001
NM_000384.3(APOB):c.386A>G (p.Tyr129Cys) rs201368319 0.00001
NM_000384.3(APOB):c.3979G>A (p.Gly1327Arg) rs760203474 0.00001
NM_000384.3(APOB):c.4027C>T (p.Pro1343Ser) rs374427541 0.00001
NM_000384.3(APOB):c.4072C>T (p.Leu1358Phe) rs565963363 0.00001
NM_000384.3(APOB):c.4376G>A (p.Ser1459Asn) rs1393100780 0.00001
NM_000384.3(APOB):c.4418C>A (p.Ser1473Tyr) rs866813485 0.00001
NM_000384.3(APOB):c.460C>G (p.Leu154Val) rs914357651 0.00001
NM_000384.3(APOB):c.4808A>T (p.Gln1603Leu) rs369598286 0.00001
NM_000384.3(APOB):c.5507T>G (p.Ile1836Arg) rs772402035 0.00001
NM_000384.3(APOB):c.5617G>A (p.Ala1873Thr) rs750451480 0.00001
NM_000384.3(APOB):c.5767C>T (p.His1923Tyr) rs746220914 0.00001
NM_000384.3(APOB):c.638A>T (p.Asp213Val) rs370711366 0.00001
NM_000384.3(APOB):c.6467T>C (p.Ile2156Thr) rs1232529396 0.00001
NM_000384.3(APOB):c.6673A>G (p.Thr2225Ala) rs1037831178 0.00001
NM_000384.3(APOB):c.6707T>C (p.Ile2236Thr) rs781584312 0.00001
NM_000384.3(APOB):c.6764A>C (p.Lys2255Thr) rs1249838546 0.00001
NM_000384.3(APOB):c.679C>G (p.Leu227Val) rs146880648 0.00001
NM_000384.3(APOB):c.6974T>C (p.Ile2325Thr) rs1315050421 0.00001
NM_000384.3(APOB):c.7603T>C (p.Tyr2535His) rs146593015 0.00001
NM_000384.3(APOB):c.765T>A (p.His255Gln) rs543698457 0.00001
NM_000384.3(APOB):c.7717T>G (p.Trp2573Gly) rs763937444 0.00001
NM_000384.3(APOB):c.7893A>G (p.Ile2631Met) rs1159771283 0.00001
NM_000384.3(APOB):c.7979C>T (p.Ser2660Phe) rs1408828737 0.00001
NM_000384.3(APOB):c.8111C>T (p.Ala2704Val) rs201874707 0.00001
NM_000384.3(APOB):c.8227C>G (p.Leu2743Val) rs777302365 0.00001
NM_000384.3(APOB):c.8243A>G (p.His2748Arg) rs1049705142 0.00001
NM_000384.3(APOB):c.8276A>G (p.Tyr2759Cys) rs370153092 0.00001
NM_000384.3(APOB):c.8394G>T (p.Glu2798Asp) rs760517113 0.00001
NM_000384.3(APOB):c.844G>A (p.Val282Met) rs1449402340 0.00001
NM_000384.3(APOB):c.8849T>C (p.Ile2950Thr) rs141591543 0.00001
NM_000384.3(APOB):c.9202A>G (p.Ile3068Val) rs778492524 0.00001
NM_000384.3(APOB):c.9713C>T (p.Ser3238Phe) rs777546847 0.00001
NM_000384.3(APOB):c.9770A>G (p.Asn3257Ser) rs146178619 0.00001
NM_000384.3(APOB):c.9794T>C (p.Ile3265Thr) rs1193351124 0.00001
NM_000384.3(APOB):c.9818T>C (p.Val3273Ala) rs1302665094 0.00001
NM_000432.4(MYL2):c.-2C>T rs730880938 0.00001
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp) rs863225117 0.00001
NM_000432.4(MYL2):c.170-1G>A rs1566148738 0.00001
NM_000432.4(MYL2):c.170G>A (p.Gly57Glu) rs199474809 0.00001
NM_000432.4(MYL2):c.20A>G (p.Lys7Arg) rs1344327792 0.00001
NM_000432.4(MYL2):c.229A>G (p.Ile77Val) rs373475989 0.00001
NM_000432.4(MYL2):c.23A>G (p.Lys8Arg) rs886039195 0.00001
NM_000432.4(MYL2):c.255G>A (p.Met85Ile) rs1385880379 0.00001
NM_000432.4(MYL2):c.257T>C (p.Phe86Ser) rs730880950 0.00001
NM_000432.4(MYL2):c.358C>G (p.Arg120Gly) rs397516404 0.00001
NM_000432.4(MYL2):c.428C>T (p.Pro143Leu) rs727504341 0.00001
NM_000527.4(LDLR):c.-120C>T rs875989886 0.00001
NM_000527.5(LDLR):c.1112T>C (p.Leu371Pro) rs1060499920 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro) rs200143634 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1435C>G (p.Leu479Val) rs1254928151 0.00001
NM_000527.5(LDLR):c.1496C>G (p.Ser499Cys) rs766929574 0.00001
NM_000527.5(LDLR):c.1575T>G (p.Asp525Glu) rs763884010 0.00001
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp) rs1410295777 0.00001
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr) rs1182317785 0.00001
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn) rs879255142 0.00001
NM_000527.5(LDLR):c.2440C>T (p.Arg814Trp) rs746616623 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro) rs763233960 0.00001
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NM_000527.5(LDLR):c.892A>G (p.Met298Val) rs730882092 0.00001
NM_000527.5(LDLR):c.908G>A (p.Arg303Gln) rs730882093 0.00001
NM_000719.7(CACNA1C):c.-3T>C rs761790520 0.00001
NM_000719.7(CACNA1C):c.1097C>T (p.Thr366Met) rs1429990170 0.00001
NM_000719.7(CACNA1C):c.1113+4C>T rs747800763 0.00001
NM_000719.7(CACNA1C):c.1215C>T (p.Ser405=) rs780409021 0.00001
NM_000719.7(CACNA1C):c.130C>G (p.Pro44Ala) rs1057518456 0.00001
NM_000719.7(CACNA1C):c.1333G>A (p.Glu445Lys) rs1238581042 0.00001
NM_000719.7(CACNA1C):c.1414G>A (p.Glu472Lys) rs770480382 0.00001
NM_000719.7(CACNA1C):c.1420G>A (p.Val474Ile) rs765581751 0.00001
NM_000719.7(CACNA1C):c.1453G>A (p.Glu485Lys) rs763065970 0.00001
NM_000719.7(CACNA1C):c.1510C>T (p.Arg504Cys) rs370634418 0.00001
NM_000719.7(CACNA1C):c.1516T>G (p.Trp506Gly) rs975289385 0.00001
NM_000719.7(CACNA1C):c.1522C>T (p.Arg508Trp) rs776805699 0.00001
NM_000719.7(CACNA1C):c.169G>A (p.Asp57Asn) rs773528195 0.00001
NM_000719.7(CACNA1C):c.1768C>T (p.Arg590Cys) rs776145143 0.00001
NM_000719.7(CACNA1C):c.1786G>A (p.Val596Met) rs768034509 0.00001
NM_000719.7(CACNA1C):c.1864G>A (p.Val622Ile) rs768270021 0.00001
NM_000719.7(CACNA1C):c.2045T>C (p.Met682Thr) rs1429541061 0.00001
NM_000719.7(CACNA1C):c.2381C>T (p.Pro794Leu) rs771393283 0.00001
NM_000719.7(CACNA1C):c.2398A>C (p.Lys800Gln) rs779009338 0.00001
NM_000719.7(CACNA1C):c.247C>T (p.Arg83Trp) rs886039214 0.00001
NM_000719.7(CACNA1C):c.2506C>T (p.Pro836Ser) rs1042919299 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000719.7(CACNA1C):c.3161A>G (p.Lys1054Arg) rs1305965146 0.00001
NM_000719.7(CACNA1C):c.3220A>G (p.Ile1074Val) rs786205779 0.00001
NM_000719.7(CACNA1C):c.3235G>A (p.Gly1079Arg) rs781440831 0.00001
NM_000719.7(CACNA1C):c.3331G>A (p.Val1111Ile) rs766023530 0.00001
NM_000719.7(CACNA1C):c.3556C>G (p.Gln1186Glu) rs890686445 0.00001
NM_000719.7(CACNA1C):c.3560G>A (p.Arg1187Gln) rs368861681 0.00001
NM_000719.7(CACNA1C):c.3717+4A>G rs1184709095 0.00001
NM_000719.7(CACNA1C):c.3718-3C>T rs1267424726 0.00001
NM_000719.7(CACNA1C):c.3949G>A (p.Ala1317Thr) rs749588699 0.00001
NM_000719.7(CACNA1C):c.4141-4C>T rs745757052 0.00001
NM_000719.7(CACNA1C):c.4381A>G (p.Met1461Val) rs200206894 0.00001
NM_000719.7(CACNA1C):c.482G>A (p.Arg161Gln) rs777210376 0.00001
NM_000719.7(CACNA1C):c.4837G>A (p.Val1613Ile) rs757629968 0.00001
NM_000719.7(CACNA1C):c.484G>A (p.Val162Met) rs1243482248 0.00001
NM_000719.7(CACNA1C):c.5225C>T (p.Ser1742Leu) rs375571032 0.00001
NM_000719.7(CACNA1C):c.5330G>A (p.Arg1777His) rs189719120 0.00001
NM_000719.7(CACNA1C):c.5338C>T (p.Arg1780Cys) rs371760034 0.00001
NM_000719.7(CACNA1C):c.5339G>A (p.Arg1780His) rs756829999 0.00001
NM_000719.7(CACNA1C):c.5441A>G (p.Asn1814Ser) rs780210232 0.00001
NM_000719.7(CACNA1C):c.5486A>G (p.Glu1829Gly) rs1350126839 0.00001
NM_000719.7(CACNA1C):c.5600G>A (p.Arg1867Gln) rs535350857 0.00001
NM_000719.7(CACNA1C):c.5808C>G (p.Ser1936Arg) rs748679771 0.00001
NM_000719.7(CACNA1C):c.5827C>T (p.His1943Tyr) rs200666365 0.00001
NM_000719.7(CACNA1C):c.5929G>A (p.Val1977Ile) rs786205741 0.00001
NM_000719.7(CACNA1C):c.5932G>A (p.Glu1978Lys) rs765320988 0.00001
NM_000719.7(CACNA1C):c.6007G>A (p.Gly2003Arg) rs886038918 0.00001
NM_000719.7(CACNA1C):c.6055C>G (p.Pro2019Ala) rs773185026 0.00001
NM_000719.7(CACNA1C):c.6091G>A (p.Gly2031Ser) rs1464980383 0.00001
NM_000719.7(CACNA1C):c.6154G>A (p.Asp2052Asn) rs957119379 0.00001
NM_000719.7(CACNA1C):c.6197C>T (p.Ala2066Val) rs1216146146 0.00001
NM_000719.7(CACNA1C):c.6287C>A (p.Pro2096His) rs2097781569 0.00001
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala) rs972053240 0.00001
NM_000719.7(CACNA1C):c.82G>A (p.Ala28Thr) rs373687005 0.00001
NM_000719.7(CACNA1C):c.901C>G (p.Gln301Glu) rs538921079 0.00001
NM_000719.7(CACNA1C):c.953T>C (p.Leu318Pro) rs745856938 0.00001
NM_000722.4(CACNA2D1):c.1077G>A (p.Met359Ile) rs1388726184 0.00001
NM_000722.4(CACNA2D1):c.149C>T (p.Thr50Ile) rs1477267428 0.00001
NM_000722.4(CACNA2D1):c.1526A>G (p.Asn509Ser) rs1386287681 0.00001
NM_000722.4(CACNA2D1):c.1772C>T (p.Thr591Ile) rs773781850 0.00001
NM_000722.4(CACNA2D1):c.1919A>G (p.Asn640Ser) rs760733417 0.00001
NM_000722.4(CACNA2D1):c.1924G>C (p.Glu642Gln) rs775481386 0.00001
NM_000722.4(CACNA2D1):c.1990A>T (p.Asn664Tyr) rs777463785 0.00001
NM_000722.4(CACNA2D1):c.2683G>A (p.Gly895Ser) rs772889955 0.00001
NM_000722.4(CACNA2D1):c.2720C>T (p.Ala907Val) rs1214105842 0.00001
NM_000722.4(CACNA2D1):c.2867C>A (p.Ser956Tyr) rs768081623 0.00001
NM_000722.4(CACNA2D1):c.435A>G (p.Ile145Met) rs756765026 0.00001
NM_000722.4(CACNA2D1):c.68C>T (p.Ser23Leu) rs532261094 0.00001
NM_000722.4(CACNA2D1):c.735C>T (p.Ile245=) rs1281680153 0.00001
NM_000722.4(CACNA2D1):c.810A>C (p.Lys270Asn) rs779135778 0.00001
NM_000784.4(CYP27A1):c.1059G>T (p.Lys353Asn) rs372343607 0.00001
NM_000784.4(CYP27A1):c.158G>T (p.Arg53Leu) rs376993392 0.00001
NM_000784.4(CYP27A1):c.416A>G (p.Gln139Arg) rs1253807962 0.00001
NM_000890.5(KCNJ5):c.1133A>C (p.Gln378Pro) rs544093099 0.00001
NM_000890.5(KCNJ5):c.149G>A (p.Arg50His) rs748152068 0.00001
NM_000890.5(KCNJ5):c.163G>A (p.Glu55Lys) rs72544301 0.00001
NM_000890.5(KCNJ5):c.259C>T (p.Arg87Cys) rs781022847 0.00001
NM_000890.5(KCNJ5):c.344G>A (p.Arg115Gln) rs369247802 0.00001
NM_000890.5(KCNJ5):c.590C>T (p.Ala197Val) rs1389181295 0.00001
NM_000890.5(KCNJ5):c.674G>A (p.Arg225His) rs772877248 0.00001
NM_000890.5(KCNJ5):c.902T>A (p.Val301Asp) rs1462481036 0.00001
NM_000890.5(KCNJ5):c.938-4C>T rs753186315 0.00001
NM_000891.3(KCNJ2):c.1268G>A (p.Arg423Gln) rs745372216 0.00001
NM_000891.3(KCNJ2):c.389C>T (p.Thr130Met) rs151168735 0.00001
NM_000891.3(KCNJ2):c.466A>G (p.Ile156Val) rs767934529 0.00001
NM_000891.3(KCNJ2):c.476T>C (p.Phe159Ser) rs1236228202 0.00001
NM_000891.3(KCNJ2):c.499G>A (p.Val167Met) rs140147979 0.00001
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe) rs779856198 0.00001
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser) rs367560052 0.00001
NM_000891.3(KCNJ2):c.974G>A (p.Arg325His) rs1555604000 0.00001
NM_001005242.3(PKP2):c.110A>G (p.Lys37Arg) rs781400459 0.00001
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys) rs878898365 0.00001
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220 0.00001
NM_001005242.3(PKP2):c.1367A>C (p.Lys456Thr) rs750897570 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.1429A>G (p.Thr477Ala) rs775192286 0.00001
NM_001005242.3(PKP2):c.1457A>T (p.Asn486Ile) rs780349259 0.00001
NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp) rs774778142 0.00001
NM_001005242.3(PKP2):c.154A>G (p.Lys52Glu) rs920017662 0.00001
NM_001005242.3(PKP2):c.1579G>A (p.Asp527Asn) rs764193250 0.00001
NM_001005242.3(PKP2):c.158G>A (p.Ser53Asn) rs776363973 0.00001
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys) rs1060501183 0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln) rs755076586 0.00001
NM_001005242.3(PKP2):c.1784C>A (p.Thr595Asn) rs1354122232 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.2017C>T (p.Pro673Ser) rs757205704 0.00001
NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val) rs556563706 0.00001
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala) rs1555141066 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.2363C>T (p.Ala788Val) rs763663760 0.00001
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr) rs397517023 0.00001
NM_001005242.3(PKP2):c.35A>G (p.Tyr12Cys) rs763433296 0.00001
NM_001005242.3(PKP2):c.467C>T (p.Pro156Leu) rs766360871 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.575C>T (p.Pro192Leu) rs748566573 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.838G>A (p.Val280Ile) rs748148237 0.00001
NM_001005242.3(PKP2):c.878G>C (p.Ser293Thr) rs1323074715 0.00001
NM_001005242.3(PKP2):c.893C>A (p.Thr298Asn) rs753271708 0.00001
NM_001005242.3(PKP2):c.914G>A (p.Gly305Glu) rs146683466 0.00001
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala) rs756604557 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.118G>T (p.Glu40Ter) rs104894501 0.00001
NM_001018005.2(TPM1):c.272G>A (p.Arg91His) rs1477561695 0.00001
NM_001018005.2(TPM1):c.511A>G (p.Ile171Val) rs774903903 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 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.703-3C>T rs796682308 0.00001
NM_001018005.2(TPM1):c.814G>A (p.Glu272Lys) rs755226348 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.840T>C (p.Asp280=) rs749271066 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.852-5C>T rs766724527 0.00001
NM_001032283.3(TMPO):c.565+1396T>C rs886038774 0.00001
NM_001035.3(RYR2):c.10142+3A>G rs936725908 0.00001
NM_001035.3(RYR2):c.10174G>A (p.Ala3392Thr) rs1325112585 0.00001
NM_001035.3(RYR2):c.10189C>T (p.Arg3397Cys) rs764084155 0.00001
NM_001035.3(RYR2):c.10230T>C (p.His3410=) rs370078129 0.00001
NM_001035.3(RYR2):c.10257C>T (p.Phe3419=) rs748715725 0.00001
NM_001035.3(RYR2):c.10266G>C (p.Gln3422His) rs368064371 0.00001
NM_001035.3(RYR2):c.10370A>C (p.Asp3457Ala) rs544496844 0.00001
NM_001035.3(RYR2):c.10488T>G (p.Phe3496Leu) rs794728768 0.00001
NM_001035.3(RYR2):c.10529G>A (p.Arg3510His) rs375947003 0.00001
NM_001035.3(RYR2):c.10637A>G (p.Lys3546Arg) rs1011095512 0.00001
NM_001035.3(RYR2):c.10790G>A (p.Arg3597Lys) rs757494145 0.00001
NM_001035.3(RYR2):c.10897G>A (p.Glu3633Lys) rs748501600 0.00001
NM_001035.3(RYR2):c.10970G>A (p.Gly3657Asp) rs876661020 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.11270C>A (p.Ala3757Asp) rs765833382 0.00001
NM_001035.3(RYR2):c.11552A>G (p.Asn3851Ser) rs967116157 0.00001
NM_001035.3(RYR2):c.12057G>A (p.Met4019Ile) rs763668006 0.00001
NM_001035.3(RYR2):c.12083C>T (p.Ser4028Leu) rs779666612 0.00001
NM_001035.3(RYR2):c.12152C>T (p.Ala4051Val) rs1326672128 0.00001
NM_001035.3(RYR2):c.12283G>A (p.Gly4095Ser) rs753850982 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001035.3(RYR2):c.12638A>G (p.Glu4213Gly) rs1178157004 0.00001
NM_001035.3(RYR2):c.12660A>C (p.Glu4220Asp) rs1323430299 0.00001
NM_001035.3(RYR2):c.12700G>A (p.Ala4234Thr) rs773317989 0.00001
NM_001035.3(RYR2):c.12767T>C (p.Met4256Thr) rs530277653 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.13079C>T (p.Ser4360Phe) rs982384666 0.00001
NM_001035.3(RYR2):c.13081G>A (p.Glu4361Lys) rs794728795 0.00001
NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn) rs372880584 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.13283A>G (p.Glu4428Gly) rs1254605642 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.1343C>T (p.Pro448Leu) rs759603395 0.00001
NM_001035.3(RYR2):c.13457C>G (p.Ala4486Gly) rs779309213 0.00001
NM_001035.3(RYR2):c.13615A>C (p.Ser4539Arg) rs778498741 0.00001
NM_001035.3(RYR2):c.13696G>A (p.Gly4566Ser) rs767716570 0.00001
NM_001035.3(RYR2):c.13743C>G (p.Val4581=) rs377670364 0.00001
NM_001035.3(RYR2):c.13783-4G>A rs1364773484 0.00001
NM_001035.3(RYR2):c.13984G>A (p.Gly4662Ser) rs886039213 0.00001
NM_001035.3(RYR2):c.14151+1G>A rs745576995 0.00001
NM_001035.3(RYR2):c.1423A>C (p.Lys475Gln) rs765389300 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.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.1504A>G (p.Ile502Val) rs1309242606 0.00001
NM_001035.3(RYR2):c.1573T>G (p.Ser525Ala) rs1207389001 0.00001
NM_001035.3(RYR2):c.1698A>C (p.Glu566Asp) rs1397154786 0.00001
NM_001035.3(RYR2):c.1775G>A (p.Gly592Glu) rs794728724 0.00001
NM_001035.3(RYR2):c.1976T>G (p.Ile659Ser) rs753013388 0.00001
NM_001035.3(RYR2):c.2125G>T (p.Gly709Trp) rs775143324 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.2300C>T (p.Ser767Leu) rs749979131 0.00001
NM_001035.3(RYR2):c.2306G>A (p.Arg769Gln) rs754901791 0.00001
NM_001035.3(RYR2):c.2364C>A (p.Phe788Leu) rs776018906 0.00001
NM_001035.3(RYR2):c.2402G>T (p.Arg801Leu) rs371157868 0.00001
NM_001035.3(RYR2):c.2513G>A (p.Arg838Gln) rs764043352 0.00001
NM_001035.3(RYR2):c.2542C>T (p.Arg848Cys) rs765102386 0.00001
NM_001035.3(RYR2):c.2603A>G (p.Asp868Gly) rs1272250863 0.00001
NM_001035.3(RYR2):c.2663A>G (p.Asn888Ser) rs1289969599 0.00001
NM_001035.3(RYR2):c.2941A>G (p.Met981Val) rs768893657 0.00001
NM_001035.3(RYR2):c.2945A>G (p.Asp982Gly) rs1461569961 0.00001
NM_001035.3(RYR2):c.2978A>G (p.Glu993Gly) rs760019189 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.3142G>A (p.Asp1048Asn) rs1384422533 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.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.340C>G (p.Leu114Val) rs759271857 0.00001
NM_001035.3(RYR2):c.3424-4A>G rs1170393191 0.00001
NM_001035.3(RYR2):c.3610G>A (p.Val1204Met) rs1435421903 0.00001
NM_001035.3(RYR2):c.365G>A (p.Arg122His) rs727503396 0.00001
NM_001035.3(RYR2):c.3677A>G (p.Tyr1226Cys) rs371124046 0.00001
NM_001035.3(RYR2):c.3767C>T (p.Pro1256Leu) rs773915323 0.00001
NM_001035.3(RYR2):c.3823G>A (p.Gly1275Ser) rs769294223 0.00001
NM_001035.3(RYR2):c.3844T>C (p.Cys1282Arg) rs1057518304 0.00001
NM_001035.3(RYR2):c.3894T>G (p.Asp1298Glu) rs1383564773 0.00001
NM_001035.3(RYR2):c.3932C>T (p.Ala1311Val) rs757471928 0.00001
NM_001035.3(RYR2):c.3950C>T (p.Thr1317Met) rs752107643 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.4020T>A (p.Asp1340Glu) rs1040456396 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.4274C>T (p.Thr1425Met) rs761181641 0.00001
NM_001035.3(RYR2):c.4294A>C (p.Ile1432Leu) rs769163639 0.00001
NM_001035.3(RYR2):c.4366G>A (p.Gly1456Ser) rs1265113691 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.4507A>G (p.Asn1503Asp) rs794728736 0.00001
NM_001035.3(RYR2):c.4585A>C (p.Thr1529Pro) rs765195072 0.00001
NM_001035.3(RYR2):c.4732C>T (p.Pro1578Ser) rs761852488 0.00001
NM_001035.3(RYR2):c.4828C>T (p.Arg1610Ter) rs794728738 0.00001
NM_001035.3(RYR2):c.4831A>G (p.Ile1611Val) rs755572625 0.00001
NM_001035.3(RYR2):c.4850G>C (p.Trp1617Ser) rs1677785308 0.00001
NM_001035.3(RYR2):c.4882A>G (p.Met1628Val) rs757286828 0.00001
NM_001035.3(RYR2):c.505C>T (p.Arg169Ter) rs749930577 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.5717T>C (p.Met1906Thr) rs748307254 0.00001
NM_001035.3(RYR2):c.5755C>T (p.Arg1919Trp) rs771469528 0.00001
NM_001035.3(RYR2):c.5824T>C (p.Phe1942Leu) rs368669045 0.00001
NM_001035.3(RYR2):c.5933A>G (p.Asn1978Ser) rs773006920 0.00001
NM_001035.3(RYR2):c.5977C>T (p.Arg1993Cys) rs767406030 0.00001
NM_001035.3(RYR2):c.6167-3C>T rs1327145604 0.00001
NM_001035.3(RYR2):c.6233C>T (p.Pro2078Leu) rs1158268722 0.00001
NM_001035.3(RYR2):c.625C>G (p.Gln209Glu) rs749414350 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.6799C>T (p.Arg2267Cys) rs554220274 0.00001
NM_001035.3(RYR2):c.6811G>A (p.Gly2271Ser) rs375371340 0.00001
NM_001035.3(RYR2):c.7057A>G (p.Ile2353Val) rs375356774 0.00001
NM_001035.3(RYR2):c.7220A>C (p.His2407Pro) rs1197580766 0.00001
NM_001035.3(RYR2):c.7234G>A (p.Gly2412Arg) rs550534270 0.00001
NM_001035.3(RYR2):c.7373C>T (p.Ala2458Val) rs768478443 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.7550A>G (p.Asn2517Ser) rs1314129285 0.00001
NM_001035.3(RYR2):c.7570G>A (p.Val2524Ile) rs934248102 0.00001
NM_001035.3(RYR2):c.8107C>A (p.Pro2703Thr) rs763186606 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.8310T>G (p.Ile2770Met) rs974847063 0.00001
NM_001035.3(RYR2):c.8314C>T (p.Arg2772Cys) rs754379518 0.00001
NM_001035.3(RYR2):c.836C>T (p.Thr279Met) rs754312807 0.00001
NM_001035.3(RYR2):c.8392A>T (p.Met2798Leu) rs1275797500 0.00001
NM_001035.3(RYR2):c.8414G>A (p.Arg2805His) rs1247067433 0.00001
NM_001035.3(RYR2):c.8417G>A (p.Arg2806His) rs955927781 0.00001
NM_001035.3(RYR2):c.8486G>A (p.Ser2829Asn) rs752268870 0.00001
NM_001035.3(RYR2):c.848C>T (p.Ala283Val) rs1163526442 0.00001
NM_001035.3(RYR2):c.8681A>G (p.Lys2894Arg) rs1374749880 0.00001
NM_001035.3(RYR2):c.8792G>T (p.Arg2931Leu) rs905226907 0.00001
NM_001035.3(RYR2):c.8816A>G (p.Tyr2939Cys) rs375408791 0.00001
NM_001035.3(RYR2):c.881C>T (p.Pro294Leu) rs750542606 0.00001
NM_001035.3(RYR2):c.8899G>A (p.Val2967Ile) rs751546090 0.00001
NM_001035.3(RYR2):c.893G>A (p.Arg298His) rs754259295 0.00001
NM_001035.3(RYR2):c.9052A>G (p.Arg3018Gly) rs748968052 0.00001
NM_001035.3(RYR2):c.9284A>G (p.Asn3095Ser) rs778591641 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.9425C>A (p.Thr3142Asn) rs1299273877 0.00001
NM_001035.3(RYR2):c.9549C>T (p.Ile3183=) rs1360654111 0.00001
NM_001035.3(RYR2):c.9551A>G (p.Tyr3184Cys) rs772804208 0.00001
NM_001035.3(RYR2):c.9667G>A (p.Glu3223Lys) rs556291797 0.00001
NM_001035.3(RYR2):c.9669G>C (p.Glu3223Asp) rs377626309 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.9686C>T (p.Thr3229Ile) rs1688441480 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.9778C>T (p.Arg3260Trp) rs765325906 0.00001
NM_001035.3(RYR2):c.9817A>G (p.Met3273Val) rs1365049763 0.00001
NM_001037.5(SCN1B):c.13C>A (p.Leu5Met) rs1064796847 0.00001
NM_001037.5(SCN1B):c.178C>T (p.Arg60Cys) rs2064221873 0.00001
NM_001037.5(SCN1B):c.38T>C (p.Leu13Pro) rs786205834 0.00001
NM_001037.5(SCN1B):c.395A>G (p.Tyr132Cys) rs1265232012 0.00001
NM_001037.5(SCN1B):c.448G>A (p.Ala150Thr) rs1034016541 0.00001
NM_001037.5(SCN1B):c.506T>C (p.Val169Ala) rs1487883672 0.00001
NM_001037.5(SCN1B):c.523G>A (p.Val175Met) rs776213428 0.00001
NM_001037.5(SCN1B):c.560C>A (p.Ala187Asp) rs749338180 0.00001
NM_001037.5(SCN1B):c.570G>T (p.Glu190Asp) rs1422403439 0.00001
NM_001037.5(SCN1B):c.571A>C (p.Thr191Pro) rs765702440 0.00001
NM_001037.5(SCN1B):c.69G>C (p.Glu23Asp) rs762553865 0.00001
NM_001040151.2(SCN3B):c.260C>G (p.Pro87Arg) rs371050389 0.00001
NM_001077653.2(TBX20):c.1009G>A (p.Ala337Thr) rs924846567 0.00001
NM_001077653.2(TBX20):c.1046G>C (p.Trp349Ser) rs748900621 0.00001
NM_001077653.2(TBX20):c.1303G>A (p.Gly435Arg) rs777607652 0.00001
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954 0.00001
NM_001077653.2(TBX20):c.493C>T (p.His165Tyr) rs370219446 0.00001
NM_001077653.2(TBX20):c.497G>A (p.Arg166Gln) rs1790244699 0.00001
NM_001077653.2(TBX20):c.4G>A (p.Glu2Lys) rs752468331 0.00001
NM_001077653.2(TBX20):c.533C>T (p.Pro178Leu) rs760169368 0.00001
NM_001077653.2(TBX20):c.72G>A (p.Met24Ile) rs150700395 0.00001
NM_001079802.2(FKTN):c.1174T>C (p.Tyr392His) rs752191412 0.00001
NM_001079802.2(FKTN):c.1178T>C (p.Leu393Pro) rs374962879 0.00001
NM_001079802.2(FKTN):c.1186A>C (p.Lys396Gln) rs1477740717 0.00001
NM_001079802.2(FKTN):c.1268A>G (p.Tyr423Cys) rs938689811 0.00001
NM_001079802.2(FKTN):c.1283A>G (p.Lys428Arg) rs1833937117 0.00001
NM_001079802.2(FKTN):c.1380dup (p.Tyr461fs) rs775366895 0.00001
NM_001079802.2(FKTN):c.13A>G (p.Asn5Asp) rs765929865 0.00001
NM_001079802.2(FKTN):c.143T>C (p.Ile48Thr) rs886044478 0.00001
NM_001079802.2(FKTN):c.154A>G (p.Ser52Gly) rs1064796459 0.00001
NM_001079802.2(FKTN):c.277A>G (p.Thr93Ala) rs886063319 0.00001
NM_001079802.2(FKTN):c.292A>G (p.Thr98Ala) rs758798692 0.00001
NM_001079802.2(FKTN):c.382C>T (p.Arg128Trp) rs767026996 0.00001
NM_001079802.2(FKTN):c.389C>T (p.Ala130Val) rs752196884 0.00001
NM_001079802.2(FKTN):c.436C>T (p.Arg146Trp) rs1208639233 0.00001
NM_001079802.2(FKTN):c.443A>G (p.Asp148Gly) rs773305645 0.00001
NM_001079802.2(FKTN):c.545A>G (p.Asn182Ser) rs760170065 0.00001
NM_001079802.2(FKTN):c.584T>C (p.Ile195Thr) rs753503050 0.00001
NM_001079802.2(FKTN):c.685G>A (p.Val229Ile) rs772111890 0.00001
NM_001079802.2(FKTN):c.755A>T (p.Tyr252Phe) rs574626895 0.00001
NM_001079802.2(FKTN):c.820C>T (p.Arg274Trp) rs558187116 0.00001
NM_001079802.2(FKTN):c.895A>C (p.Ser299Arg) rs367662190 0.00001
NM_001103.4(ACTN2):c.1031A>G (p.Asn344Ser) rs886046206 0.00001
NM_001103.4(ACTN2):c.1058G>A (p.Arg353Gln) rs780552939 0.00001
NM_001103.4(ACTN2):c.1090G>A (p.Glu364Lys) rs572523462 0.00001
NM_001103.4(ACTN2):c.1228G>T (p.Ala410Ser) rs1258500915 0.00001
NM_001103.4(ACTN2):c.1238A>T (p.His413Leu) rs763060410 0.00001
NM_001103.4(ACTN2):c.1312C>T (p.Arg438Trp) rs563171274 0.00001
NM_001103.4(ACTN2):c.1325G>A (p.Arg442Gln) rs776947613 0.00001
NM_001103.4(ACTN2):c.1333G>A (p.Glu445Lys) rs773942709 0.00001
NM_001103.4(ACTN2):c.1358C>G (p.Ala453Gly) rs566860712 0.00001
NM_001103.4(ACTN2):c.1439A>G (p.Asn480Ser) rs1197619498 0.00001
NM_001103.4(ACTN2):c.1538C>A (p.Thr513Asn) rs749178520 0.00001
NM_001103.4(ACTN2):c.1549C>T (p.Leu517Phe) rs759778745 0.00001
NM_001103.4(ACTN2):c.1609G>A (p.Glu537Lys) rs1401807611 0.00001
NM_001103.4(ACTN2):c.1624A>G (p.Met542Val) rs770807444 0.00001
NM_001103.4(ACTN2):c.166G>A (p.Gly56Ser) rs758034866 0.00001
NM_001103.4(ACTN2):c.1691C>T (p.Thr564Met) rs876661341 0.00001
NM_001103.4(ACTN2):c.1703C>G (p.Ala568Gly) rs776805533 0.00001
NM_001103.4(ACTN2):c.1799G>A (p.Ser600Asn) rs794728968 0.00001
NM_001103.4(ACTN2):c.1804G>A (p.Val602Ile) rs377356540 0.00001
NM_001103.4(ACTN2):c.1823G>A (p.Arg608Gln) rs529944004 0.00001
NM_001103.4(ACTN2):c.1891C>T (p.Arg631Cys) rs1446087607 0.00001
NM_001103.4(ACTN2):c.1906G>A (p.Glu636Lys) rs780431842 0.00001
NM_001103.4(ACTN2):c.1910G>A (p.Arg637His) rs1259556889 0.00001
NM_001103.4(ACTN2):c.1946T>C (p.Ile649Thr) rs150825710 0.00001
NM_001103.4(ACTN2):c.1948G>C (p.Gly650Arg) rs1173244523 0.00001
NM_001103.4(ACTN2):c.1952C>T (p.Pro651Leu) rs752552408 0.00001
NM_001103.4(ACTN2):c.1975-5C>G rs369148572 0.00001
NM_001103.4(ACTN2):c.2054T>C (p.Ile685Thr) rs1057523250 0.00001
NM_001103.4(ACTN2):c.2082G>C (p.Lys694Asn) rs748034053 0.00001
NM_001103.4(ACTN2):c.2387G>A (p.Arg796His) rs772409484 0.00001
NM_001103.4(ACTN2):c.2413G>A (p.Gly805Arg) rs769239899 0.00001
NM_001103.4(ACTN2):c.2449T>C (p.Phe817Leu) rs757713931 0.00001
NM_001103.4(ACTN2):c.2477A>T (p.Asp826Val) rs372348405 0.00001
NM_001103.4(ACTN2):c.2554C>T (p.Arg852Trp) rs745317077 0.00001
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His) rs533267299 0.00001
NM_001103.4(ACTN2):c.2632G>A (p.Ala878Thr) rs1270659015 0.00001
NM_001103.4(ACTN2):c.2671G>T (p.Glu891Ter) rs1177830945 0.00001
NM_001103.4(ACTN2):c.575G>A (p.Arg192Gln) rs200316891 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.731C>T (p.Ala244Val) rs938796645 0.00001
NM_001103.4(ACTN2):c.776C>T (p.Ala259Val) rs566552494 0.00001
NM_001103.4(ACTN2):c.896G>A (p.Arg299His) rs746677039 0.00001
NM_001103.4(ACTN2):c.955A>G (p.Lys319Glu) rs754614411 0.00001
NM_001103.4(ACTN2):c.970C>T (p.Arg324Trp) rs747674727 0.00001
NM_001103.4(ACTN2):c.980G>A (p.Arg327His) rs554811924 0.00001
NM_001103.4(ACTN2):c.982C>T (p.Arg328Trp) rs770855273 0.00001
NM_001105206.3(LAMA4):c.1105C>A (p.Leu369Ile) rs1291328403 0.00001
NM_001105206.3(LAMA4):c.1121G>A (p.Ser374Asn) rs869025449 0.00001
NM_001105206.3(LAMA4):c.1252G>A (p.Glu418Lys) rs1159049821 0.00001
NM_001105206.3(LAMA4):c.1310T>C (p.Phe437Ser) rs782766851 0.00001
NM_001105206.3(LAMA4):c.1319G>A (p.Arg440Gln) rs1052880266 0.00001
NM_001105206.3(LAMA4):c.1327G>A (p.Val443Met) rs371650107 0.00001
NM_001105206.3(LAMA4):c.133del (p.Gln45fs) rs1341828711 0.00001
NM_001105206.3(LAMA4):c.1357+1G>A rs1057524730 0.00001
NM_001105206.3(LAMA4):c.1394A>G (p.Asn465Ser) rs1315842790 0.00001
NM_001105206.3(LAMA4):c.1436A>T (p.Asp479Val) rs781939403 0.00001
NM_001105206.3(LAMA4):c.1455G>T (p.Leu485Phe) rs782305599 0.00001
NM_001105206.3(LAMA4):c.1456T>A (p.Ser486Thr) rs1419996220 0.00001
NM_001105206.3(LAMA4):c.153C>A (p.Ser51Arg) rs782192817 0.00001
NM_001105206.3(LAMA4):c.1582G>A (p.Glu528Lys) rs782385471 0.00001
NM_001105206.3(LAMA4):c.1661T>C (p.Ile554Thr) rs535664944 0.00001
NM_001105206.3(LAMA4):c.1834G>A (p.Asp612Asn) rs201484136 0.00001
NM_001105206.3(LAMA4):c.1835A>T (p.Asp612Val) rs782157527 0.00001
NM_001105206.3(LAMA4):c.1867G>A (p.Ala623Thr) rs782574915 0.00001
NM_001105206.3(LAMA4):c.203A>G (p.Asn68Ser) rs782428669 0.00001
NM_001105206.3(LAMA4):c.2177A>T (p.Asp726Val) rs781823199 0.00001
NM_001105206.3(LAMA4):c.2215G>A (p.Glu739Lys) rs727504935 0.00001
NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu) rs1554334959 0.00001
NM_001105206.3(LAMA4):c.2465T>C (p.Ile822Thr) rs369962703 0.00001
NM_001105206.3(LAMA4):c.2506A>G (p.Met836Val) rs184539670 0.00001
NM_001105206.3(LAMA4):c.2527G>C (p.Ala843Pro) rs536755553 0.00001
NM_001105206.3(LAMA4):c.2543C>T (p.Ser848Leu) rs782005555 0.00001
NM_001105206.3(LAMA4):c.2568G>C (p.Lys856Asn) rs144433625 0.00001
NM_001105206.3(LAMA4):c.2615C>T (p.Pro872Leu) rs375497091 0.00001
NM_001105206.3(LAMA4):c.2620C>G (p.Leu874Val) rs782635471 0.00001
NM_001105206.3(LAMA4):c.2665A>C (p.Asn889His) rs782532289 0.00001
NM_001105206.3(LAMA4):c.3026C>A (p.Ala1009Asp) rs199618820 0.00001
NM_001105206.3(LAMA4):c.3245C>T (p.Pro1082Leu) rs782040284 0.00001
NM_001105206.3(LAMA4):c.3308G>A (p.Arg1103His) rs782568532 0.00001
NM_001105206.3(LAMA4):c.335A>G (p.Lys112Arg) rs370001919 0.00001
NM_001105206.3(LAMA4):c.3365T>C (p.Leu1122Pro) rs189581734 0.00001
NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn) rs781919095 0.00001
NM_001105206.3(LAMA4):c.3574C>T (p.Leu1192Phe) rs181787647 0.00001
NM_001105206.3(LAMA4):c.3793A>G (p.Thr1265Ala) rs1179163721 0.00001
NM_001105206.3(LAMA4):c.3841G>A (p.Val1281Met) rs184696189 0.00001
NM_001105206.3(LAMA4):c.4059T>A (p.Phe1353Leu) rs782273793 0.00001
NM_001105206.3(LAMA4):c.4078A>G (p.Ile1360Val) rs1219695312 0.00001
NM_001105206.3(LAMA4):c.4111A>C (p.Ile1371Leu) rs974775253 0.00001
NM_001105206.3(LAMA4):c.4135G>A (p.Val1379Met) rs782165947 0.00001
NM_001105206.3(LAMA4):c.4223C>T (p.Pro1408Leu) rs148968696 0.00001
NM_001105206.3(LAMA4):c.4492C>T (p.Arg1498Cys) rs782368185 0.00001
NM_001105206.3(LAMA4):c.4505G>A (p.Arg1502His) rs781976795 0.00001
NM_001105206.3(LAMA4):c.4601A>G (p.Asn1534Ser) rs782057429 0.00001
NM_001105206.3(LAMA4):c.4681G>A (p.Glu1561Lys) rs782515490 0.00001
NM_001105206.3(LAMA4):c.4708G>T (p.Asp1570Tyr) rs199938033 0.00001
NM_001105206.3(LAMA4):c.4724T>C (p.Leu1575Pro) rs372502180 0.00001
NM_001105206.3(LAMA4):c.4786G>A (p.Gly1596Ser) rs373949918 0.00001
NM_001105206.3(LAMA4):c.4883T>G (p.Ile1628Ser) rs145001856 0.00001
NM_001105206.3(LAMA4):c.5035A>G (p.Arg1679Gly) rs781995760 0.00001
NM_001105206.3(LAMA4):c.5206+1G>A rs368035482 0.00001
NM_001105206.3(LAMA4):c.5383C>T (p.His1795Tyr) rs782153502 0.00001
NM_001105206.3(LAMA4):c.59C>T (p.Ala20Val) rs1060500981 0.00001
NM_001105206.3(LAMA4):c.676C>T (p.Pro226Ser) rs201820268 0.00001
NM_001105206.3(LAMA4):c.757G>A (p.Gly253Arg) rs377633183 0.00001
NM_001105206.3(LAMA4):c.944A>G (p.Asn315Ser) rs1029188462 0.00001
NM_001105206.3(LAMA4):c.985G>C (p.Glu329Gln) rs1554346363 0.00001
NM_001110556.2(FLNA):c.7604T>C (p.Val2535Ala) rs886039104 0.00001
NM_001114753.3(ENG):c.1058A>G (p.Glu353Gly) rs868730895 0.00001
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066 0.00001
NM_001114753.3(ENG):c.790G>A (p.Asp264Asn) rs1210433339 0.00001
NM_001114753.3(ENG):c.943G>A (p.Val315Met) rs763508329 0.00001
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln) rs777080028 0.00001
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr) rs886046703 0.00001
NM_001134363.3(RBM20):c.116G>A (p.Arg39Gln) rs780367353 0.00001
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg) rs727505308 0.00001
NM_001134363.3(RBM20):c.1265T>C (p.Phe422Ser) rs932538273 0.00001
NM_001134363.3(RBM20):c.1348C>T (p.Arg450Trp) rs886039129 0.00001
NM_001134363.3(RBM20):c.1360G>T (p.Gly454Cys) rs780583951 0.00001
NM_001134363.3(RBM20):c.1396A>G (p.Ser466Gly) rs1330659380 0.00001
NM_001134363.3(RBM20):c.1400C>G (p.Thr467Arg) rs775062085 0.00001
NM_001134363.3(RBM20):c.1444C>G (p.Leu482Val) rs752506719 0.00001
NM_001134363.3(RBM20):c.145C>G (p.Gln49Glu) rs912374533 0.00001
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys) rs369835514 0.00001
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr) rs758772050 0.00001
NM_001134363.3(RBM20):c.1723C>G (p.Gln575Glu) rs1030751538 0.00001
NM_001134363.3(RBM20):c.1765C>T (p.Arg589Trp) rs919402785 0.00001
NM_001134363.3(RBM20):c.1801-5G>T rs995878595 0.00001
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln) rs1366402693 0.00001
NM_001134363.3(RBM20):c.1894A>G (p.Arg632Gly) rs1470779057 0.00001
NM_001134363.3(RBM20):c.1896G>C (p.Arg632Ser) rs767451635 0.00001
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu) rs747880281 0.00001
NM_001134363.3(RBM20):c.1921C>T (p.Arg641Trp) rs772991270 0.00001
NM_001134363.3(RBM20):c.1960T>C (p.Ser654Pro) rs1275195637 0.00001
NM_001134363.3(RBM20):c.1962C>T (p.Ser654=) rs1060504913 0.00001
NM_001134363.3(RBM20):c.196G>A (p.Ala66Thr) rs1051972948 0.00001
NM_001134363.3(RBM20):c.1982C>G (p.Pro661Arg) rs1251592783 0.00001
NM_001134363.3(RBM20):c.2011A>G (p.Asn671Asp) rs1204905333 0.00001
NM_001134363.3(RBM20):c.2021A>G (p.Asp674Gly) rs1475557145 0.00001
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly) rs1051836531 0.00001
NM_001134363.3(RBM20):c.2063G>A (p.Arg688Gln) rs776778214 0.00001
NM_001134363.3(RBM20):c.2069C>T (p.Pro690Leu) rs550942448 0.00001
NM_001134363.3(RBM20):c.2072C>T (p.Ala691Val) rs1293517489 0.00001
NM_001134363.3(RBM20):c.2100G>C (p.Lys700Asn) rs957430941 0.00001
NM_001134363.3(RBM20):c.2131C>T (p.Arg711Cys) rs750763255 0.00001
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser) rs1371567866 0.00001
NM_001134363.3(RBM20):c.2276A>G (p.Tyr759Cys) rs1463526980 0.00001
NM_001134363.3(RBM20):c.2281C>T (p.Arg761Trp) rs781256531 0.00001
NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser) rs999008497 0.00001
NM_001134363.3(RBM20):c.2464C>A (p.Gln822Lys) rs377259044 0.00001
NM_001134363.3(RBM20):c.2497A>G (p.Arg833Gly) rs371116877 0.00001
NM_001134363.3(RBM20):c.2633C>T (p.Pro878Leu) rs368291152 0.00001
NM_001134363.3(RBM20):c.2759T>G (p.Phe920Cys) rs112880805 0.00001
NM_001134363.3(RBM20):c.275C>T (p.Ala92Val) rs1344144278 0.00001
NM_001134363.3(RBM20):c.27G>C (p.Gln9His) rs1157177960 0.00001
NM_001134363.3(RBM20):c.303C>A (p.His101Gln) rs1172371194 0.00001
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys) rs866975469 0.00001
NM_001134363.3(RBM20):c.3119C>G (p.Ala1040Gly) rs878854251 0.00001
NM_001134363.3(RBM20):c.3154G>A (p.Ala1052Thr) rs890053031 0.00001
NM_001134363.3(RBM20):c.321G>C (p.Gln107His) rs1413181007 0.00001
NM_001134363.3(RBM20):c.3278A>T (p.Asp1093Val) rs748335429 0.00001
NM_001134363.3(RBM20):c.349G>A (p.Ala117Thr) rs373480063 0.00001
NM_001134363.3(RBM20):c.359del (p.Leu120fs) rs1173576141 0.00001
NM_001134363.3(RBM20):c.3602G>A (p.Gly1201Asp) rs1159249168 0.00001
NM_001134363.3(RBM20):c.404A>G (p.Asn135Ser) rs1460527562 0.00001
NM_001134363.3(RBM20):c.413G>C (p.Arg138Thr) rs1387283537 0.00001
NM_001134363.3(RBM20):c.434G>A (p.Gly145Asp) rs1060503413 0.00001
NM_001134363.3(RBM20):c.674C>T (p.Thr225Ile) rs794729140 0.00001
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys) rs1478721868 0.00001
NM_001134363.3(RBM20):c.707C>A (p.Ser236Tyr) rs548382173 0.00001
NM_001134363.3(RBM20):c.838A>G (p.Lys280Glu) rs1414387984 0.00001
NM_001134363.3(RBM20):c.856A>G (p.Asn286Asp) rs1324823773 0.00001
NM_001134363.3(RBM20):c.858C>A (p.Asn286Lys) rs1339836806 0.00001
NM_001148.6(ANK2):c.10200G>C (p.Lys3400Asn) rs942441867 0.00001
NM_001148.6(ANK2):c.10222C>G (p.Arg3408Gly) rs773715451 0.00001
NM_001148.6(ANK2):c.10254A>C (p.Arg3418Ser) rs200605861 0.00001
NM_001148.6(ANK2):c.10331T>C (p.Val3444Ala) rs1389060330 0.00001
NM_001148.6(ANK2):c.10375C>T (p.Pro3459Ser) rs761631834 0.00001
NM_001148.6(ANK2):c.10528G>T (p.Ala3510Ser) rs1303634187 0.00001
NM_001148.6(ANK2):c.10999A>G (p.Ile3667Val) rs1476966675 0.00001
NM_001148.6(ANK2):c.11027G>C (p.Ser3676Thr) rs886059017 0.00001
NM_001148.6(ANK2):c.11150T>A (p.Ile3717Asn) rs747566497 0.00001
NM_001148.6(ANK2):c.11177A>T (p.Asp3726Val) rs762384095 0.00001
NM_001148.6(ANK2):c.11300A>T (p.Glu3767Val) rs773893598 0.00001
NM_001148.6(ANK2):c.11302T>C (p.Tyr3768His) rs771710685 0.00001
NM_001148.6(ANK2):c.11313A>C (p.Glu3771Asp) rs1261133929 0.00001
NM_001148.6(ANK2):c.11320G>A (p.Val3774Met) rs771510196 0.00001
NM_001148.6(ANK2):c.11398G>A (p.Glu3800Lys) rs1057522136 0.00001
NM_001148.6(ANK2):c.11435T>G (p.Leu3812Arg) rs1554589909 0.00001
NM_001148.6(ANK2):c.11617G>A (p.Asp3873Asn) rs777035563 0.00001
NM_001148.6(ANK2):c.11632C>G (p.Pro3878Ala) rs369756604 0.00001
NM_001148.6(ANK2):c.11686G>T (p.Val3896Leu) rs768664692 0.00001
NM_001148.6(ANK2):c.11728T>C (p.Ser3910Pro) rs1181940613 0.00001
NM_001148.6(ANK2):c.1517G>A (p.Arg506His) rs760370075 0.00001
NM_001148.6(ANK2):c.1554A>T (p.Gln518His) rs761779843 0.00001
NM_001148.6(ANK2):c.1615C>T (p.Arg539Trp) rs756495481 0.00001
NM_001148.6(ANK2):c.1664C>T (p.Ala555Val) rs766431760 0.00001
NM_001148.6(ANK2):c.1696C>T (p.Pro566Ser) rs2060790981 0.00001
NM_001148.6(ANK2):c.2063T>A (p.Ile688Asn) rs746436835 0.00001
NM_001148.6(ANK2):c.2079+5T>G rs1304362778 0.00001
NM_001148.6(ANK2):c.2108C>T (p.Ala703Val) rs756016862 0.00001
NM_001148.6(ANK2):c.2345A>G (p.Gln782Arg) rs754601230 0.00001
NM_001148.6(ANK2):c.2465C>A (p.Thr822Asn) rs374355225 0.00001
NM_001148.6(ANK2):c.2468C>T (p.Thr823Ile) rs772263458 0.00001
NM_001148.6(ANK2):c.2803A>C (p.Thr935Pro) rs756666052 0.00001
NM_001148.6(ANK2):c.2807T>C (p.Leu936Pro) rs786205733 0.00001
NM_001148.6(ANK2):c.2837G>A (p.Arg946His) rs768671380 0.00001
NM_001148.6(ANK2):c.2849G>A (p.Gly950Asp) rs1437372961 0.00001
NM_001148.6(ANK2):c.2897C>T (p.Ser966Leu) rs200658794 0.00001
NM_001148.6(ANK2):c.2930G>A (p.Arg977Gln) rs747390978 0.00001
NM_001148.6(ANK2):c.2987G>A (p.Arg996Gln) rs200124480 0.00001
NM_001148.6(ANK2):c.3082A>G (p.Ser1028Gly) rs786205726 0.00001
NM_001148.6(ANK2):c.3143C>T (p.Thr1048Met) rs786205735 0.00001
NM_001148.6(ANK2):c.3337A>G (p.Thr1113Ala) rs150841275 0.00001
NM_001148.6(ANK2):c.3399C>G (p.Asp1133Glu) rs748934954 0.00001
NM_001148.6(ANK2):c.3455C>T (p.Ala1152Val) rs376536631 0.00001
NM_001148.6(ANK2):c.365A>G (p.Asn122Ser) rs748761434 0.00001
NM_001148.6(ANK2):c.3970G>A (p.Val1324Ile) rs1261943601 0.00001
NM_001148.6(ANK2):c.4393C>A (p.Gln1465Lys) rs761254386 0.00001
NM_001148.6(ANK2):c.5327G>A (p.Arg1776Gln) rs150207892 0.00001
NM_001148.6(ANK2):c.555T>G (p.Asn185Lys) rs780370907 0.00001
NM_001148.6(ANK2):c.56G>A (p.Ser19Asn) rs369260005 0.00001
NM_001148.6(ANK2):c.6545A>G (p.Tyr2182Cys) rs1421417952 0.00001
NM_001148.6(ANK2):c.658G>A (p.Val220Ile) rs764633047 0.00001
NM_001148.6(ANK2):c.7082A>G (p.His2361Arg) rs745718831 0.00001
NM_001148.6(ANK2):c.7307C>T (p.Ser2436Phe) rs761246790 0.00001
NM_001148.6(ANK2):c.7528C>T (p.Leu2510Phe) rs1293101023 0.00001
NM_001148.6(ANK2):c.7828G>T (p.Asp2610Tyr) rs767768290 0.00001
NM_001148.6(ANK2):c.805C>T (p.Pro269Ser) rs1260008727 0.00001
NM_001148.6(ANK2):c.8759A>G (p.Tyr2920Cys) rs781185140 0.00001
NM_001148.6(ANK2):c.9175G>T (p.Val3059Leu) rs761458371 0.00001
NM_001148.6(ANK2):c.9190C>G (p.Gln3064Glu) rs757030067 0.00001
NM_001148.6(ANK2):c.9404G>T (p.Gly3135Val) rs140683986 0.00001
NM_001148.6(ANK2):c.9427C>G (p.Leu3143Val) rs776074680 0.00001
NM_001148.6(ANK2):c.9829T>C (p.Ser3277Pro) rs753345794 0.00001
NM_001148.6(ANK2):c.9856G>A (p.Glu3286Lys) rs768536932 0.00001
NM_001148.6(ANK2):c.9859A>T (p.Ile3287Phe) rs781204799 0.00001
NM_001148.6(ANK2):c.9880A>C (p.Asn3294His) rs763211298 0.00001
NM_001159699.2(FHL1):c.303C>G (p.Asn101Lys) rs762126486 0.00001
NM_001159699.2(FHL1):c.836G>A (p.Arg279His) rs377071251 0.00001
NM_001232.4(CASQ2):c.1031T>A (p.Met344Lys) rs575326580 0.00001
NM_001232.4(CASQ2):c.1052A>G (p.Asp351Gly) rs200899037 0.00001
NM_001232.4(CASQ2):c.205C>G (p.Gln69Glu) rs761862949 0.00001
NM_001232.4(CASQ2):c.229C>T (p.Leu77Phe) rs781778467 0.00001
NM_001232.4(CASQ2):c.289A>G (p.Lys97Glu) rs750159744 0.00001
NM_001232.4(CASQ2):c.361C>T (p.Arg121Cys) rs570840019 0.00001
NM_001232.4(CASQ2):c.409T>C (p.Phe137Leu) rs762328417 0.00001
NM_001232.4(CASQ2):c.469G>C (p.Ala157Pro) rs779063209 0.00001
NM_001232.4(CASQ2):c.482T>C (p.Ile161Thr) rs151201435 0.00001
NM_001232.4(CASQ2):c.518G>T (p.Ser173Ile) rs786205790 0.00001
NM_001232.4(CASQ2):c.83A>G (p.Tyr28Cys) rs1230753325 0.00001
NM_001232.4(CASQ2):c.862C>G (p.Leu288Val) rs772096506 0.00001
NM_001232.4(CASQ2):c.971T>C (p.Ile324Thr) rs369403991 0.00001
NM_001267550.2(TTN):c.100562G>A (p.Gly33521Asp) rs370516977 0.00001
NM_001267550.2(TTN):c.100642T>C (p.Phe33548Leu) rs773561397 0.00001
NM_001267550.2(TTN):c.100649G>A (p.Gly33550Asp) rs370253076 0.00001
NM_001267550.2(TTN):c.101875G>A (p.Glu33959Lys) rs886055224 0.00001
NM_001267550.2(TTN):c.102182G>A (p.Arg34061His) rs774174825 0.00001
NM_001267550.2(TTN):c.102206A>G (p.Gln34069Arg) rs780466011 0.00001
NM_001267550.2(TTN):c.102418G>A (p.Gly34140Arg) rs1294610003 0.00001
NM_001267550.2(TTN):c.102782C>A (p.Thr34261Asn) rs985229219 0.00001
NM_001267550.2(TTN):c.102928G>A (p.Glu34310Lys) rs768930172 0.00001
NM_001267550.2(TTN):c.10303+2T>C rs371596417 0.00001
NM_001267550.2(TTN):c.103216G>A (p.Gly34406Arg) rs371753532 0.00001
NM_001267550.2(TTN):c.103609C>T (p.Arg34537Trp) rs753957126 0.00001
NM_001267550.2(TTN):c.103687G>A (p.Val34563Met) rs369429739 0.00001
NM_001267550.2(TTN):c.104005G>A (p.Asp34669Asn) rs1430662349 0.00001
NM_001267550.2(TTN):c.104062G>C (p.Glu34688Gln) rs775049806 0.00001
NM_001267550.2(TTN):c.104099C>T (p.Pro34700Leu) rs757181586 0.00001
NM_001267550.2(TTN):c.104126G>A (p.Arg34709His) rs574420969 0.00001
NM_001267550.2(TTN):c.104282G>A (p.Arg34761Gln) rs200773170 0.00001
NM_001267550.2(TTN):c.104353G>C (p.Glu34785Gln) rs772532135 0.00001
NM_001267550.2(TTN):c.104458G>A (p.Glu34820Lys) rs766062367 0.00001
NM_001267550.2(TTN):c.104582G>A (p.Arg34861His) rs777774818 0.00001
NM_001267550.2(TTN):c.105149G>C (p.Arg35050Thr) rs376175862 0.00001
NM_001267550.2(TTN):c.105493A>G (p.Lys35165Glu) rs879156291 0.00001
NM_001267550.2(TTN):c.105571G>A (p.Val35191Ile) rs1290162863 0.00001
NM_001267550.2(TTN):c.105834G>C (p.Gln35278His) rs758094020 0.00001
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter) rs779948923 0.00001
NM_001267550.2(TTN):c.106117C>A (p.Gln35373Lys) rs778126842 0.00001
NM_001267550.2(TTN):c.106906G>A (p.Val35636Met) rs751243461 0.00001
NM_001267550.2(TTN):c.107593G>A (p.Glu35865Lys) rs372841288 0.00001
NM_001267550.2(TTN):c.107661G>A (p.Met35887Ile) rs764323200 0.00001
NM_001267550.2(TTN):c.1099T>C (p.Ser367Pro) rs376015894 0.00001
NM_001267550.2(TTN):c.11687A>G (p.Asn3896Ser) rs1207560844 0.00001
NM_001267550.2(TTN):c.12361G>C (p.Asp4121His) rs370209978 0.00001
NM_001267550.2(TTN):c.12416A>G (p.His4139Arg) rs72648920 0.00001
NM_001267550.2(TTN):c.12508G>A (p.Glu4170Lys) rs1343565501 0.00001
NM_001267550.2(TTN):c.1304T>C (p.Met435Thr) rs770187975 0.00001
NM_001267550.2(TTN):c.13130T>C (p.Leu4377Pro) rs774398710 0.00001
NM_001267550.2(TTN):c.13510C>A (p.Gln4504Lys) rs761901186 0.00001
NM_001267550.2(TTN):c.13724A>G (p.Glu4575Gly) rs564287456 0.00001
NM_001267550.2(TTN):c.13877C>A (p.Thr4626Lys) rs886039164 0.00001
NM_001267550.2(TTN):c.13940A>G (p.Asp4647Gly) rs781348816 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.15495A>C (p.Lys5165Asn) rs794729608 0.00001
NM_001267550.2(TTN):c.1565T>C (p.Val522Ala) rs752904431 0.00001
NM_001267550.2(TTN):c.202C>T (p.Pro68Ser) rs876658046 0.00001
NM_001267550.2(TTN):c.2203T>C (p.Tyr735His) rs754432983 0.00001
NM_001267550.2(TTN):c.2233A>G (p.Lys745Glu) rs139957325 0.00001
NM_001267550.2(TTN):c.2371-1G>A rs755365744 0.00001
NM_001267550.2(TTN):c.25147A>G (p.Ile8383Val) rs886038829 0.00001
NM_001267550.2(TTN):c.2629C>A (p.Pro877Thr) rs751640052 0.00001
NM_001267550.2(TTN):c.26872T>C (p.Ser8958Pro) rs886038913 0.00001
NM_001267550.2(TTN):c.27743C>A (p.Thr9248Asn) rs397517523 0.00001
NM_001267550.2(TTN):c.28055T>C (p.Leu9352Ser) rs776487201 0.00001
NM_001267550.2(TTN):c.28120A>G (p.Thr9374Ala) rs886038863 0.00001
NM_001267550.2(TTN):c.295+5G>A rs56310717 0.00001
NM_001267550.2(TTN):c.3157G>A (p.Glu1053Lys) rs775979333 0.00001
NM_001267550.2(TTN):c.325C>T (p.Arg109Ter) rs150954246 0.00001
NM_001267550.2(TTN):c.3524-3T>C rs762717963 0.00001
NM_001267550.2(TTN):c.3729+4A>G rs1170576212 0.00001
NM_001267550.2(TTN):c.3868G>A (p.Glu1290Lys) rs748755381 0.00001
NM_001267550.2(TTN):c.40519C>T (p.Arg13507Cys) rs528749203 0.00001
NM_001267550.2(TTN):c.40558+4T>C rs398124451 0.00001
NM_001267550.2(TTN):c.40939A>G (p.Lys13647Glu) rs777187629 0.00001
NM_001267550.2(TTN):c.4108A>G (p.Lys1370Glu) rs1453568535 0.00001
NM_001267550.2(TTN):c.41104T>C (p.Ser13702Pro) rs72650078 0.00001
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His) rs750520224 0.00001
NM_001267550.2(TTN):c.41423G>A (p.Arg13808His) rs764850788 0.00001
NM_001267550.2(TTN):c.42055C>T (p.Arg14019Cys) rs763499817 0.00001
NM_001267550.2(TTN):c.42649G>A (p.Glu14217Lys) rs727503629 0.00001
NM_001267550.2(TTN):c.42725C>T (p.Ala14242Val) rs769564228 0.00001
NM_001267550.2(TTN):c.42829A>T (p.Ile14277Phe) rs397517568 0.00001
NM_001267550.2(TTN):c.4292G>A (p.Arg1431Gln) rs373690688 0.00001
NM_001267550.2(TTN):c.42940G>A (p.Val14314Ile) rs376881525 0.00001
NM_001267550.2(TTN):c.42946+3G>A rs763647141 0.00001
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402 0.00001
NM_001267550.2(TTN):c.43857T>G (p.Phe14619Leu) rs202179380 0.00001
NM_001267550.2(TTN):c.44249A>G (p.Asn14750Ser) rs767633080 0.00001
NM_001267550.2(TTN):c.44284C>A (p.Arg14762=) rs770767998 0.00001
NM_001267550.2(TTN):c.44425G>A (p.Val14809Met) rs775225695 0.00001
NM_001267550.2(TTN):c.45185T>C (p.Ile15062Thr) rs373627060 0.00001
NM_001267550.2(TTN):c.45369C>G (p.Ile15123Met) rs1160173197 0.00001
NM_001267550.2(TTN):c.45598G>A (p.Ala15200Thr) rs752318420 0.00001
NM_001267550.2(TTN):c.45890T>C (p.Val15297Ala) rs775158152 0.00001
NM_001267550.2(TTN):c.45895G>A (p.Glu15299Lys) rs397517582 0.00001
NM_001267550.2(TTN):c.45916G>A (p.Glu15306Lys) rs774339883 0.00001
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln) rs775513269 0.00001
NM_001267550.2(TTN):c.48055G>A (p.Glu16019Lys) rs758399903 0.00001
NM_001267550.2(TTN):c.48212C>T (p.Ser16071Leu) rs794727332 0.00001
NM_001267550.2(TTN):c.48446T>C (p.Met16149Thr) rs760582847 0.00001
NM_001267550.2(TTN):c.48903G>C (p.Gln16301His) rs886038833 0.00001
NM_001267550.2(TTN):c.4894G>A (p.Ala1632Thr) rs1250136125 0.00001
NM_001267550.2(TTN):c.48952A>C (p.Ile16318Leu) rs962564634 0.00001
NM_001267550.2(TTN):c.49770G>C (p.Met16590Ile) rs774495753 0.00001
NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val) rs749438439 0.00001
NM_001267550.2(TTN):c.5000A>G (p.Tyr1667Cys) rs140494897 0.00001
NM_001267550.2(TTN):c.50348T>C (p.Ile16783Thr) rs950940404 0.00001
NM_001267550.2(TTN):c.50396T>G (p.Val16799Gly) rs1222977459 0.00001
NM_001267550.2(TTN):c.50536A>G (p.Ile16846Val) rs1432294105 0.00001
NM_001267550.2(TTN):c.50642G>C (p.Gly16881Ala) rs201302681 0.00001
NM_001267550.2(TTN):c.51355T>G (p.Phe17119Val) rs370696020 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.51579G>C (p.Arg17193Ser) rs759285989 0.00001
NM_001267550.2(TTN):c.51625G>A (p.Ala17209Thr) rs1292930837 0.00001
NM_001267550.2(TTN):c.52028A>T (p.Asp17343Val) rs201796622 0.00001
NM_001267550.2(TTN):c.52411C>T (p.Pro17471Ser) rs551867239 0.00001
NM_001267550.2(TTN):c.52966G>A (p.Gly17656Arg) rs1269389543 0.00001
NM_001267550.2(TTN):c.53246G>C (p.Ser17749Thr) rs1553686153 0.00001
NM_001267550.2(TTN):c.53545G>C (p.Val17849Leu) rs746831431 0.00001
NM_001267550.2(TTN):c.53707C>T (p.Arg17903Cys) rs1016726284 0.00001
NM_001267550.2(TTN):c.53785G>A (p.Glu17929Lys) rs201052994 0.00001
NM_001267550.2(TTN):c.53880A>C (p.Glu17960Asp) rs780456423 0.00001
NM_001267550.2(TTN):c.53915G>A (p.Arg17972Gln) rs377169251 0.00001
NM_001267550.2(TTN):c.54646G>A (p.Val18216Ile) rs2054164910 0.00001
NM_001267550.2(TTN):c.54741G>A (p.Met18247Ile) rs368858337 0.00001
NM_001267550.2(TTN):c.55010C>T (p.Pro18337Leu) rs764568599 0.00001
NM_001267550.2(TTN):c.55270-3T>C rs749109513 0.00001
NM_001267550.2(TTN):c.55432+5G>C rs754717390 0.00001
NM_001267550.2(TTN):c.5576G>T (p.Arg1859Met) rs777923620 0.00001
NM_001267550.2(TTN):c.57387T>A (p.Asn19129Lys) rs375305621 0.00001
NM_001267550.2(TTN):c.57519G>T (p.Lys19173Asn) rs1009412718 0.00001
NM_001267550.2(TTN):c.57860G>A (p.Arg19287His) rs371422299 0.00001
NM_001267550.2(TTN):c.58490T>C (p.Met19497Thr) rs375365886 0.00001
NM_001267550.2(TTN):c.58550T>C (p.Ile19517Thr) rs72646838 0.00001
NM_001267550.2(TTN):c.58658G>A (p.Arg19553Gln) rs543279513 0.00001
NM_001267550.2(TTN):c.59176G>A (p.Glu19726Lys) rs1356102019 0.00001
NM_001267550.2(TTN):c.59359A>C (p.Ile19787Leu) rs771610118 0.00001
NM_001267550.2(TTN):c.59533C>T (p.Arg19845Cys) rs1232069163 0.00001
NM_001267550.2(TTN):c.59812G>A (p.Ala19938Thr) rs755204306 0.00001
NM_001267550.2(TTN):c.59875C>T (p.Arg19959Cys) rs564432498 0.00001
NM_001267550.2(TTN):c.59894C>T (p.Thr19965Ile) rs372266703 0.00001
NM_001267550.2(TTN):c.59912C>T (p.Ala19971Val) rs886055258 0.00001
NM_001267550.2(TTN):c.60104G>T (p.Cys20035Phe) rs774488793 0.00001
NM_001267550.2(TTN):c.60266T>C (p.Val20089Ala) rs886039085 0.00001
NM_001267550.2(TTN):c.60787A>G (p.Thr20263Ala) rs886038850 0.00001
NM_001267550.2(TTN):c.60944G>A (p.Gly20315Asp) rs765839032 0.00001
NM_001267550.2(TTN):c.61182G>C (p.Lys20394Asn) rs1251147363 0.00001
NM_001267550.2(TTN):c.61220T>C (p.Val20407Ala) rs761797946 0.00001
NM_001267550.2(TTN):c.61366G>A (p.Gly20456Ser) rs756873840 0.00001
NM_001267550.2(TTN):c.61706G>A (p.Arg20569Lys) rs371014957 0.00001
NM_001267550.2(TTN):c.62306C>A (p.Pro20769Gln) rs772498581 0.00001
NM_001267550.2(TTN):c.6250A>G (p.Ile2084Val) rs369388581 0.00001
NM_001267550.2(TTN):c.62537C>T (p.Ala20846Val) rs1060500518 0.00001
NM_001267550.2(TTN):c.62786T>C (p.Ile20929Thr) rs794729471 0.00001
NM_001267550.2(TTN):c.62897G>A (p.Arg20966His) rs1174185176 0.00001
NM_001267550.2(TTN):c.6314C>G (p.Pro2105Arg) rs547169244 0.00001
NM_001267550.2(TTN):c.6355G>T (p.Glu2119Ter) rs869312098 0.00001
NM_001267550.2(TTN):c.63941C>T (p.Ser21314Leu) rs776468606 0.00001
NM_001267550.2(TTN):c.64454G>A (p.Arg21485Gln) rs746903647 0.00001
NM_001267550.2(TTN):c.64594A>G (p.Lys21532Glu) rs794729477 0.00001
NM_001267550.2(TTN):c.64682G>T (p.Gly21561Val) rs111829923 0.00001
NM_001267550.2(TTN):c.64846A>G (p.Lys21616Glu) rs761445537 0.00001
NM_001267550.2(TTN):c.64897C>T (p.Arg21633Trp) rs749576292 0.00001
NM_001267550.2(TTN):c.6508+1G>T rs1373416532 0.00001
NM_001267550.2(TTN):c.65258C>T (p.Thr21753Ile) rs748999109 0.00001
NM_001267550.2(TTN):c.65486A>G (p.Gln21829Arg) rs886038921 0.00001
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser) rs72646866 0.00001
NM_001267550.2(TTN):c.65727C>T (p.Gly21909=) rs1246746665 0.00001
NM_001267550.2(TTN):c.6593C>T (p.Thr2198Ile) rs886038879 0.00001
NM_001267550.2(TTN):c.66332T>A (p.Ile22111Lys) rs374614550 0.00001
NM_001267550.2(TTN):c.66707A>G (p.Asn22236Ser) rs771424887 0.00001
NM_001267550.2(TTN):c.66769+4A>G rs368682419 0.00001
NM_001267550.2(TTN):c.67788A>G (p.Arg22596=) rs1326950042 0.00001
NM_001267550.2(TTN):c.68078C>T (p.Thr22693Met) rs758700425 0.00001
NM_001267550.2(TTN):c.68083G>A (p.Ala22695Thr) rs767279296 0.00001
NM_001267550.2(TTN):c.69337C>T (p.Arg23113Trp) rs749409444 0.00001
NM_001267550.2(TTN):c.6941T>C (p.Ile2314Thr) rs397517708 0.00001
NM_001267550.2(TTN):c.69575C>T (p.Thr23192Ile) rs1319888327 0.00001
NM_001267550.2(TTN):c.69883G>A (p.Ala23295Thr) rs746519147 0.00001
NM_001267550.2(TTN):c.70006G>A (p.Val23336Ile) rs781015638 0.00001
NM_001267550.2(TTN):c.70111C>T (p.Arg23371Cys) rs56141309 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.70243A>C (p.Met23415Leu) rs200029470 0.00001
NM_001267550.2(TTN):c.70331C>G (p.Pro23444Arg) rs1325284144 0.00001
NM_001267550.2(TTN):c.70982C>T (p.Pro23661Leu) rs1060500459 0.00001
NM_001267550.2(TTN):c.71347C>T (p.Arg23783Cys) rs754516257 0.00001
NM_001267550.2(TTN):c.71581T>C (p.Tyr23861His) rs759611506 0.00001
NM_001267550.2(TTN):c.71624C>A (p.Thr23875Asn) rs771783837 0.00001
NM_001267550.2(TTN):c.72074A>C (p.Glu24025Ala) rs886039088 0.00001
NM_001267550.2(TTN):c.731C>T (p.Ala244Val) rs1337958814 0.00001
NM_001267550.2(TTN):c.73390C>T (p.Arg24464Trp) rs369098292 0.00001
NM_001267550.2(TTN):c.7399A>G (p.Lys2467Glu) rs1362423521 0.00001
NM_001267550.2(TTN):c.74063G>A (p.Arg24688His) rs376988498 0.00001
NM_001267550.2(TTN):c.74766G>C (p.Arg24922Ser) rs372814940 0.00001
NM_001267550.2(TTN):c.7502G>A (p.Arg2501Gln) rs369559000 0.00001
NM_001267550.2(TTN):c.75035G>A (p.Arg25012Gln) rs866517435 0.00001
NM_001267550.2(TTN):c.75053T>C (p.Val25018Ala) rs745832906 0.00001
NM_001267550.2(TTN):c.7517G>A (p.Arg2506Gln) rs758719859 0.00001
NM_001267550.2(TTN):c.75271A>G (p.Ser25091Gly) rs886609420 0.00001
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe) rs374494927 0.00001
NM_001267550.2(TTN):c.7645A>C (p.Asn2549His) rs1277824720 0.00001
NM_001267550.2(TTN):c.76487C>G (p.Pro25496Arg) rs886039105 0.00001
NM_001267550.2(TTN):c.76565T>C (p.Ile25522Thr) rs372963832 0.00001
NM_001267550.2(TTN):c.7760A>G (p.Tyr2587Cys) rs375047082 0.00001
NM_001267550.2(TTN):c.79211C>T (p.Thr26404Ile) rs786205300 0.00001
NM_001267550.2(TTN):c.79420C>G (p.Pro26474Ala) rs761511285 0.00001
NM_001267550.2(TTN):c.79591G>A (p.Glu26531Lys) rs772211147 0.00001
NM_001267550.2(TTN):c.80209T>A (p.Cys26737Ser) rs566764105 0.00001
NM_001267550.2(TTN):c.80712A>G (p.Ile26904Met) rs773395582 0.00001
NM_001267550.2(TTN):c.8095T>G (p.Ser2699Ala) rs373857878 0.00001
NM_001267550.2(TTN):c.81809T>C (p.Ile27270Thr) rs368527797 0.00001
NM_001267550.2(TTN):c.82106G>A (p.Arg27369Lys) rs774715672 0.00001
NM_001267550.2(TTN):c.82133A>C (p.Lys27378Thr) rs886055240 0.00001
NM_001267550.2(TTN):c.82408C>A (p.Pro27470Thr) rs886055239 0.00001
NM_001267550.2(TTN):c.82448A>G (p.Lys27483Arg) rs937111656 0.00001
NM_001267550.2(TTN):c.82687C>T (p.Arg27563Cys) rs72648214 0.00001
NM_001267550.2(TTN):c.82934G>A (p.Arg27645His) rs766522109 0.00001
NM_001267550.2(TTN):c.82964G>A (p.Gly27655Asp) rs373745130 0.00001
NM_001267550.2(TTN):c.83105G>A (p.Arg27702Gln) rs776136653 0.00001
NM_001267550.2(TTN):c.83487T>G (p.Asn27829Lys) rs374322635 0.00001
NM_001267550.2(TTN):c.84187C>T (p.Arg28063Cys) rs539595292 0.00001
NM_001267550.2(TTN):c.84406G>A (p.Gly28136Arg) rs879234686 0.00001
NM_001267550.2(TTN):c.84574G>A (p.Glu28192Lys) rs879123930 0.00001
NM_001267550.2(TTN):c.84682C>T (p.Arg28228Cys) rs776756769 0.00001
NM_001267550.2(TTN):c.85096G>A (p.Val28366Ile) rs367800789 0.00001
NM_001267550.2(TTN):c.85979T>C (p.Ile28660Thr) rs397517733 0.00001
NM_001267550.2(TTN):c.86393G>A (p.Arg28798Lys) rs781458689 0.00001
NM_001267550.2(TTN):c.87131T>C (p.Ile29044Thr) rs768120552 0.00001
NM_001267550.2(TTN):c.87671T>C (p.Ile29224Thr) rs878915392 0.00001
NM_001267550.2(TTN):c.88146G>C (p.Trp29382Cys) rs937554101 0.00001
NM_001267550.2(TTN):c.88760A>G (p.His29587Arg) rs373905959 0.00001
NM_001267550.2(TTN):c.88820G>A (p.Arg29607Gln) rs755212831 0.00001
NM_001267550.2(TTN):c.88863A>C (p.Glu29621Asp) rs750981091 0.00001
NM_001267550.2(TTN):c.89072C>A (p.Thr29691Asn) rs794729525 0.00001
NM_001267550.2(TTN):c.89479C>A (p.Pro29827Thr) rs201620815 0.00001
NM_001267550.2(TTN):c.89689C>T (p.Leu29897Phe) rs180798672 0.00001
NM_001267550.2(TTN):c.89972C>T (p.Ser29991Phe) rs879239139 0.00001
NM_001267550.2(TTN):c.90159A>C (p.Lys30053Asn) rs886039117 0.00001
NM_001267550.2(TTN):c.90186_90188del (p.Thr30063del) rs758914867 0.00001
NM_001267550.2(TTN):c.90742G>A (p.Val30248Ile) rs727505024 0.00001
NM_001267550.2(TTN):c.91199A>T (p.Tyr30400Phe) rs376494747 0.00001
NM_001267550.2(TTN):c.91352G>A (p.Gly30451Asp) rs751610164 0.00001
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val) rs727504501 0.00001
NM_001267550.2(TTN):c.91813T>A (p.Ser30605Thr) rs984360776 0.00001
NM_001267550.2(TTN):c.92291C>A (p.Thr30764Lys) rs376537509 0.00001
NM_001267550.2(TTN):c.92455G>A (p.Val30819Ile) rs368511235 0.00001
NM_001267550.2(TTN):c.92582G>A (p.Cys30861Tyr) rs1045877862 0.00001
NM_001267550.2(TTN):c.92905C>T (p.Arg30969Trp) rs754767262 0.00001
NM_001267550.2(TTN):c.93089G>A (p.Arg31030Gln) rs766391515 0.00001
NM_001267550.2(TTN):c.93262T>G (p.Phe31088Val) rs1023137329 0.00001
NM_001267550.2(TTN):c.93935T>G (p.Val31312Gly) rs201344229 0.00001
NM_001267550.2(TTN):c.93991G>A (p.Gly31331Arg) rs377660595 0.00001
NM_001267550.2(TTN):c.94045C>T (p.Arg31349Cys) rs727503549 0.00001
NM_001267550.2(TTN):c.94330T>C (p.Trp31444Arg) rs533447102 0.00001
NM_001267550.2(TTN):c.9434G>A (p.Arg3145Lys) rs727503682 0.00001
NM_001267550.2(TTN):c.94357A>G (p.Ile31453Val) rs780232811 0.00001
NM_001267550.2(TTN):c.94484G>A (p.Ser31495Asn) rs1329167679 0.00001
NM_001267550.2(TTN):c.94486G>A (p.Glu31496Lys) rs769175534 0.00001
NM_001267550.2(TTN):c.94627A>G (p.Ile31543Val) rs771491701 0.00001
NM_001267550.2(TTN):c.94634G>A (p.Arg31545His) rs920039018 0.00001
NM_001267550.2(TTN):c.9468T>A (p.Val3156=) rs879192388 0.00001
NM_001267550.2(TTN):c.95468A>G (p.His31823Arg) rs794729539 0.00001
NM_001267550.2(TTN):c.95539C>T (p.Arg31847Cys) rs774814532 0.00001
NM_001267550.2(TTN):c.95616C>A (p.Ser31872Arg) rs757129504 0.00001
NM_001267550.2(TTN):c.95983G>A (p.Glu31995Lys) rs776682000 0.00001
NM_001267550.2(TTN):c.96311-4T>C rs1553518208 0.00001
NM_001267550.2(TTN):c.96422T>A (p.Ile32141Asn) rs753559586 0.00001
NM_001267550.2(TTN):c.97177A>G (p.Lys32393Glu) rs374081110 0.00001
NM_001267550.2(TTN):c.97192+4A>G rs370069759 0.00001
NM_001267550.2(TTN):c.97373C>T (p.Thr32458Met) rs749501290 0.00001
NM_001267550.2(TTN):c.97417C>T (p.Arg32473Cys) rs371924787 0.00001
NM_001267550.2(TTN):c.9770G>A (p.Arg3257His) rs535876380 0.00001
NM_001267550.2(TTN):c.97754C>G (p.Pro32585Arg) rs373959972 0.00001
NM_001267550.2(TTN):c.97792A>G (p.Ile32598Val) rs372075164 0.00001
NM_001267550.2(TTN):c.97885G>A (p.Gly32629Arg) rs767456906 0.00001
NM_001267550.2(TTN):c.97892A>T (p.Lys32631Ile) rs944963846 0.00001
NM_001267550.2(TTN):c.9820A>C (p.Lys3274Gln) rs201696360 0.00001
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly) rs191054704 0.00001
NM_001267550.2(TTN):c.98924A>T (p.Gln32975Leu) rs776743138 0.00001
NM_001267550.2(TTN):c.99320T>C (p.Met33107Thr) rs942438397 0.00001
NM_001267550.2(TTN):c.99544G>A (p.Val33182Ile) rs1060500530 0.00001
NM_001267550.2(TTN):c.99955G>A (p.Gly33319Arg) rs72648279 0.00001
NM_001276345.2(TNNT2):c.-3A>G rs752977897 0.00001
NM_001276345.2(TNNT2):c.145G>A (p.Glu49Lys) rs757526942 0.00001
NM_001276345.2(TNNT2):c.163+1G>T rs113051005 0.00001
NM_001276345.2(TNNT2):c.200-4C>G rs397516448 0.00001
NM_001276345.2(TNNT2):c.254T>G (p.Val85Gly) rs730881095 0.00001
NM_001276345.2(TNNT2):c.349G>A (p.Glu117Lys) rs730881099 0.00001
NM_001276345.2(TNNT2):c.404A>T (p.Asp135Val) rs759758840 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.473G>A (p.Arg158Gln) rs730881102 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.505C>T (p.Arg169Ter) rs397516469 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.677G>A (p.Arg226Lys) rs1205564576 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.803A>T (p.Lys268Ile) rs397516482 0.00001
NM_001276345.2(TNNT2):c.823C>T (p.Arg275Ter) rs748970759 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.10G>A (p.Ala4Thr) rs1264081192 0.00001
NM_001289808.2(CRYAB):c.112T>C (p.Phe38Leu) rs1237590699 0.00001
NM_001289808.2(CRYAB):c.149G>A (p.Arg50Gln) rs781846534 0.00001
NM_001289808.2(CRYAB):c.19C>T (p.His7Tyr) rs1555165611 0.00001
NM_001289808.2(CRYAB):c.206G>A (p.Arg69His) rs987496548 0.00001
NM_001289808.2(CRYAB):c.324+3A>G rs1057520897 0.00001
NM_001289808.2(CRYAB):c.324G>C (p.Gln108His) rs886039099 0.00001
NM_001289808.2(CRYAB):c.485C>T (p.Thr162Ile) rs199861008 0.00001
NM_001289808.2(CRYAB):c.488G>A (p.Arg163His) rs782207078 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_001308093.3(GATA4):c.1031C>T (p.Ala344Val) rs1199535707 0.00001
NM_001308093.3(GATA4):c.1303G>A (p.Asp435Asn) rs745543448 0.00001
NM_001308093.3(GATA4):c.214G>T (p.Gly72Cys) rs1310454033 0.00001
NM_001308093.3(GATA4):c.41C>G (p.Pro14Arg) rs996317979 0.00001
NM_001308093.3(GATA4):c.631G>A (p.Asp211Asn) rs377673676 0.00001
NM_001308093.3(GATA4):c.773C>T (p.Pro258Leu) rs753457161 0.00001
NM_001308093.3(GATA4):c.94G>A (p.Ala32Thr) rs773545065 0.00001
NM_001365276.2(TNXB):c.1106G>A (p.Ser369Asn) rs779507521 0.00001
NM_001365276.2(TNXB):c.1132C>T (p.Arg378Trp) rs372983350 0.00001
NM_001365276.2(TNXB):c.1358A>G (p.Asn453Ser) rs547835381 0.00001
NM_001365276.2(TNXB):c.1424G>T (p.Arg475Leu) rs1401291892 0.00001
NM_001365276.2(TNXB):c.1739A>G (p.Tyr580Cys) rs761561411 0.00001
NM_001365276.2(TNXB):c.2646G>A (p.Val882=) rs755470740 0.00001
NM_001365276.2(TNXB):c.3212C>G (p.Thr1071Arg) rs573740606 0.00001
NM_001365276.2(TNXB):c.3826T>C (p.Ser1276Pro) rs879263799 0.00001
NM_001365276.2(TNXB):c.4240C>T (p.Arg1414Trp) rs565552445 0.00001
NM_001365276.2(TNXB):c.4552G>C (p.Val1518Leu) rs376280627 0.00001
NM_001365276.2(TNXB):c.5098C>G (p.Gln1700Glu) rs200248536 0.00001
NM_001365276.2(TNXB):c.5170C>T (p.Arg1724Cys) rs897784867 0.00001
NM_001365276.2(TNXB):c.5276C>T (p.Thr1759Met) rs778500698 0.00001
NM_001365276.2(TNXB):c.562C>T (p.Pro188Ser) rs371794070 0.00001
NM_001365276.2(TNXB):c.631C>T (p.Pro211Ser) rs559844112 0.00001
NM_001365276.2(TNXB):c.6514G>A (p.Val2172Met) rs766408404 0.00001
NM_001365276.2(TNXB):c.6652G>A (p.Glu2218Lys) rs530280191 0.00001
NM_001365276.2(TNXB):c.6694G>A (p.Asp2232Asn) rs571291130 0.00001
NM_001365276.2(TNXB):c.6755T>C (p.Leu2252Pro) rs369271286 0.00001
NM_001365276.2(TNXB):c.7783G>A (p.Glu2595Lys) rs374803743 0.00001
NM_001365276.2(TNXB):c.8101G>A (p.Gly2701Ser) rs367754667 0.00001
NM_001365276.2(TNXB):c.8200C>G (p.Pro2734Ala) rs200810612 0.00001
NM_001365276.2(TNXB):c.8317A>T (p.Arg2773Trp) rs572852092 0.00001
NM_001365276.2(TNXB):c.8323G>A (p.Gly2775Arg) rs770521692 0.00001
NM_001365276.2(TNXB):c.8342G>A (p.Arg2781His) rs780530688 0.00001
NM_001365276.2(TNXB):c.9064G>A (p.Gly3022Ser) rs753710096 0.00001
NM_001365276.2(TNXB):c.9437C>T (p.Thr3146Met) rs770332215 0.00001
NM_001365276.2(TNXB):c.9584C>T (p.Ser3195Phe) rs768193578 0.00001
NM_001365276.2(TNXB):c.9812C>T (p.Ala3271Val) rs2856444 0.00001
NM_001365276.2(TNXB):c.9988C>A (p.Leu3330Ile) rs769294568 0.00001
NM_001367624.2(ZNF469):c.10333C>T (p.Arg3445Trp) rs766994242 0.00001
NM_001367624.2(ZNF469):c.10352G>A (p.Arg3451His) rs972190166 0.00001
NM_001367624.2(ZNF469):c.10763G>A (p.Gly3588Glu) rs1294443050 0.00001
NM_001367624.2(ZNF469):c.10811C>T (p.Pro3604Leu) rs957402222 0.00001
NM_001367624.2(ZNF469):c.10873A>G (p.Arg3625Gly) rs563548368 0.00001
NM_001367624.2(ZNF469):c.1090G>A (p.Ala364Thr) rs759454921 0.00001
NM_001367624.2(ZNF469):c.11344G>A (p.Ala3782Thr) rs1327878609 0.00001
NM_001367624.2(ZNF469):c.11357C>G (p.Ala3786Gly) rs749325593 0.00001
NM_001367624.2(ZNF469):c.11615C>T (p.Pro3872Leu) rs974559662 0.00001
NM_001367624.2(ZNF469):c.11768G>A (p.Arg3923Gln) rs281165935 0.00001
NM_001367624.2(ZNF469):c.1181C>T (p.Thr394Met) rs1031189046 0.00001
NM_001367624.2(ZNF469):c.1204C>G (p.Pro402Ala) rs1204157035 0.00001
NM_001367624.2(ZNF469):c.1339C>T (p.Pro447Ser) rs931930346 0.00001
NM_001367624.2(ZNF469):c.1445T>C (p.Leu482Pro) rs1179042965 0.00001
NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile) rs1187845779 0.00001
NM_001367624.2(ZNF469):c.2596G>A (p.Asp866Asn) rs1242041437 0.00001
NM_001367624.2(ZNF469):c.3055C>T (p.Pro1019Ser) rs937180195 0.00001
NM_001367624.2(ZNF469):c.3183C>T (p.Arg1061=) rs756703220 0.00001
NM_001367624.2(ZNF469):c.3277G>A (p.Asp1093Asn) rs973227993 0.00001
NM_001367624.2(ZNF469):c.4097T>C (p.Val1366Ala) rs1252673809 0.00001
NM_001367624.2(ZNF469):c.419C>G (p.Pro140Arg) rs1461017061 0.00001
NM_001367624.2(ZNF469):c.4556C>T (p.Ser1519Leu) rs767278971 0.00001
NM_001367624.2(ZNF469):c.4946C>T (p.Ala1649Val) rs1031009469 0.00001
NM_001367624.2(ZNF469):c.5069C>A (p.Ala1690Asp) rs1230618809 0.00001
NM_001367624.2(ZNF469):c.5384C>A (p.Ala1795Asp) rs1013562167 0.00001
NM_001367624.2(ZNF469):c.6016G>A (p.Gly2006Arg) rs752527135 0.00001
NM_001367624.2(ZNF469):c.6095G>A (p.Gly2032Asp) rs1363498031 0.00001
NM_001367624.2(ZNF469):c.638G>A (p.Ser213Asn) rs1300492242 0.00001
NM_001367624.2(ZNF469):c.6413C>T (p.Ser2138Leu) rs530318278 0.00001
NM_001367624.2(ZNF469):c.682C>G (p.Gln228Glu) rs1388683384 0.00001
NM_001367624.2(ZNF469):c.7085C>T (p.Ser2362Phe) rs1028993119 0.00001
NM_001367624.2(ZNF469):c.7159C>T (p.Arg2387Cys) rs886052409 0.00001
NM_001367624.2(ZNF469):c.7257G>C (p.Gln2419His) rs780605331 0.00001
NM_001367624.2(ZNF469):c.7291C>T (p.His2431Tyr) rs904233607 0.00001
NM_001367624.2(ZNF469):c.7595G>T (p.Arg2532Met) rs553909579 0.00001
NM_001367624.2(ZNF469):c.7627C>T (p.Arg2543Trp) rs747677679 0.00001
NM_001367624.2(ZNF469):c.7775C>T (p.Pro2592Leu) rs1906486689 0.00001
NM_001367624.2(ZNF469):c.796G>A (p.Gly266Ser) rs1874240607 0.00001
NM_001367624.2(ZNF469):c.8111A>C (p.Glu2704Ala) rs930146121 0.00001
NM_001367624.2(ZNF469):c.8573C>G (p.Ser2858Cys) rs975435621 0.00001
NM_001367624.2(ZNF469):c.8653C>T (p.Pro2885Ser) rs1324192956 0.00001
NM_001367624.2(ZNF469):c.8845C>G (p.Pro2949Ala) rs992507100 0.00001
NM_001367624.2(ZNF469):c.8908G>T (p.Gly2970Cys) rs1426809592 0.00001
NM_001367624.2(ZNF469):c.8984C>T (p.Ala2995Val) rs759398721 0.00001
NM_001367624.2(ZNF469):c.9055G>A (p.Glu3019Lys) rs765339766 0.00001
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met) rs273585626 0.00001
NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp) rs1292941352 0.00001
NM_001367624.2(ZNF469):c.931G>A (p.Gly311Arg) rs930833316 0.00001
NM_001367624.2(ZNF469):c.9335G>A (p.Arg3112Gln) rs942909542 0.00001
NM_001367624.2(ZNF469):c.9367C>T (p.Arg3123Cys) rs902647292 0.00001
NM_001367624.2(ZNF469):c.974C>T (p.Pro325Leu) rs546224574 0.00001
NM_001367624.2(ZNF469):c.9785C>T (p.Ala3262Val) rs1309673757 0.00001
NM_001367624.2(ZNF469):c.9977C>A (p.Thr3326Asn) rs1206417002 0.00001
NM_001368067.1(LDB3):c.803G>A (p.Arg268His) rs751981682 0.00001
NM_001371904.1(APOA5):c.118A>G (p.Arg40Gly) rs1057522953 0.00001
NM_001378454.1(ALMS1):c.10004G>T (p.Gly3335Val) rs1344858585 0.00001
NM_001378454.1(ALMS1):c.10078+1G>T rs765075310 0.00001
NM_001378454.1(ALMS1):c.10186A>G (p.Lys3396Glu) rs1473998334 0.00001
NM_001378454.1(ALMS1):c.10214-4G>A rs757482053 0.00001
NM_001378454.1(ALMS1):c.10217C>G (p.Ser3406Cys) rs1279080725 0.00001
NM_001378454.1(ALMS1):c.10318A>G (p.Arg3440Gly) rs746702722 0.00001
NM_001378454.1(ALMS1):c.10338G>T (p.Glu3446Asp) rs928444733 0.00001
NM_001378454.1(ALMS1):c.103G>C (p.Ala35Pro) rs955371491 0.00001
NM_001378454.1(ALMS1):c.10420C>T (p.Arg3474Cys) rs759337193 0.00001
NM_001378454.1(ALMS1):c.10476T>G (p.Ser3492Arg) rs1433521854 0.00001
NM_001378454.1(ALMS1):c.10526A>G (p.His3509Arg) rs1674949532 0.00001
NM_001378454.1(ALMS1):c.10625A>G (p.Tyr3542Cys) rs761771973 0.00001
NM_001378454.1(ALMS1):c.10635A>G (p.Ile3545Met) rs760321819 0.00001
NM_001378454.1(ALMS1):c.10738C>G (p.Pro3580Ala) rs746126446 0.00001
NM_001378454.1(ALMS1):c.10772C>A (p.Thr3591Lys) rs773091397 0.00001
NM_001378454.1(ALMS1):c.10862A>G (p.Lys3621Arg) rs1288339942 0.00001
NM_001378454.1(ALMS1):c.10973G>A (p.Arg3658Gln) rs781344338 0.00001
NM_001378454.1(ALMS1):c.11116T>A (p.Ser3706Thr) rs749624694 0.00001
NM_001378454.1(ALMS1):c.11192G>A (p.Ser3731Asn) rs756136080 0.00001
NM_001378454.1(ALMS1):c.11204C>T (p.Ser3735Leu) rs367877017 0.00001
NM_001378454.1(ALMS1):c.11284G>A (p.Glu3762Lys) rs1243181452 0.00001
NM_001378454.1(ALMS1):c.11393G>A (p.Arg3798Lys) rs1006564458 0.00001
NM_001378454.1(ALMS1):c.11401T>A (p.Leu3801Met) rs780494417 0.00001
NM_001378454.1(ALMS1):c.11467C>T (p.Arg3823Trp) rs17848868 0.00001
NM_001378454.1(ALMS1):c.11477A>G (p.His3826Arg) rs371105298 0.00001
NM_001378454.1(ALMS1):c.11492T>G (p.Leu3831Arg) rs777912782 0.00001
NM_001378454.1(ALMS1):c.1154G>A (p.Ser385Asn) rs767078704 0.00001
NM_001378454.1(ALMS1):c.11728C>G (p.Pro3910Ala) rs761099182 0.00001
NM_001378454.1(ALMS1):c.11797C>T (p.Arg3933Cys) rs1356118595 0.00001
NM_001378454.1(ALMS1):c.11929G>A (p.Val3977Met) rs185423930 0.00001
NM_001378454.1(ALMS1):c.12074G>A (p.Gly4025Asp) rs199989044 0.00001
NM_001378454.1(ALMS1):c.12164G>A (p.Arg4055Gln) rs752714698 0.00001
NM_001378454.1(ALMS1):c.12295A>G (p.Arg4099Gly) rs1057524885 0.00001
NM_001378454.1(ALMS1):c.122T>C (p.Val41Ala) rs1558624684 0.00001
NM_001378454.1(ALMS1):c.12355T>G (p.Ser4119Ala) rs372734481 0.00001
NM_001378454.1(ALMS1):c.12362+5G>C rs771226996 0.00001
NM_001378454.1(ALMS1):c.12367T>G (p.Tyr4123Asp) rs963466695 0.00001
NM_001378454.1(ALMS1):c.12436C>T (p.Arg4146Trp) rs763519566 0.00001
NM_001378454.1(ALMS1):c.1432+5G>A rs755613962 0.00001
NM_001378454.1(ALMS1):c.1508A>G (p.Asp503Gly) rs771835386 0.00001
NM_001378454.1(ALMS1):c.1717A>G (p.Ser573Gly) rs143478466 0.00001
NM_001378454.1(ALMS1):c.1855T>C (p.Ser619Pro) rs921968387 0.00001
NM_001378454.1(ALMS1):c.1859C>A (p.Thr620Asn) rs1447523847 0.00001
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys) rs193922693 0.00001
NM_001378454.1(ALMS1):c.2138C>G (p.Ser713Cys) rs771496254 0.00001
NM_001378454.1(ALMS1):c.2212G>A (p.Glu738Lys) rs1057524883 0.00001
NM_001378454.1(ALMS1):c.2396A>G (p.Gln799Arg) rs530083993 0.00001
NM_001378454.1(ALMS1):c.2542A>G (p.Thr848Ala) rs777811953 0.00001
NM_001378454.1(ALMS1):c.25C>T (p.Pro9Ser) rs769538172 0.00001
NM_001378454.1(ALMS1):c.2683G>A (p.Asp895Asn) rs756206965 0.00001
NM_001378454.1(ALMS1):c.3062A>T (p.Tyr1021Phe) rs574757598 0.00001
NM_001378454.1(ALMS1):c.323A>G (p.Lys108Arg) rs1046964700 0.00001
NM_001378454.1(ALMS1):c.3272C>T (p.Ala1091Val) rs1402063104 0.00001
NM_001378454.1(ALMS1):c.3310G>A (p.Gly1104Ser) rs868703237 0.00001
NM_001378454.1(ALMS1):c.3472G>A (p.Ala1158Thr) rs376302473 0.00001
NM_001378454.1(ALMS1):c.3514T>A (p.Ser1172Thr) rs756748918 0.00001
NM_001378454.1(ALMS1):c.3605A>G (p.Tyr1202Cys) rs772706904 0.00001
NM_001378454.1(ALMS1):c.400A>G (p.Asn134Asp) rs780314593 0.00001
NM_001378454.1(ALMS1):c.4115G>A (p.Gly1372Asp) rs1439442789 0.00001
NM_001378454.1(ALMS1):c.430C>T (p.Arg144Trp) rs748293128 0.00001
NM_001378454.1(ALMS1):c.4360G>C (p.Glu1454Gln) rs768816557 0.00001
NM_001378454.1(ALMS1):c.442G>A (p.Asp148Asn) rs757606922 0.00001
NM_001378454.1(ALMS1):c.4430C>T (p.Ser1477Leu) rs794727926 0.00001
NM_001378454.1(ALMS1):c.4450G>A (p.Val1484Ile) rs779113815 0.00001
NM_001378454.1(ALMS1):c.465G>C (p.Trp155Cys) rs1414087888 0.00001
NM_001378454.1(ALMS1):c.4924G>A (p.Val1642Met) rs763324131 0.00001
NM_001378454.1(ALMS1):c.5017A>G (p.Ile1673Val) rs773107767 0.00001
NM_001378454.1(ALMS1):c.5035C>G (p.Leu1679Val) rs760829019 0.00001
NM_001378454.1(ALMS1):c.5173G>T (p.Ala1725Ser) rs763052163 0.00001
NM_001378454.1(ALMS1):c.5484G>T (p.Leu1828Phe) rs376996058 0.00001
NM_001378454.1(ALMS1):c.5558A>G (p.Gln1853Arg) rs574696548 0.00001
NM_001378454.1(ALMS1):c.556G>C (p.Asp186His) rs1044951470 0.00001
NM_001378454.1(ALMS1):c.5615C>T (p.Thr1872Ile) rs762339692 0.00001
NM_001378454.1(ALMS1):c.5777A>G (p.Gln1926Arg) rs376161519 0.00001
NM_001378454.1(ALMS1):c.5891C>A (p.Ala1964Asp) rs1196949061 0.00001
NM_001378454.1(ALMS1):c.5905C>G (p.Pro1969Ala) rs552496175 0.00001
NM_001378454.1(ALMS1):c.5956A>G (p.Ser1986Gly) rs778684767 0.00001
NM_001378454.1(ALMS1):c.6020A>G (p.Gln2007Arg) rs1047348249 0.00001
NM_001378454.1(ALMS1):c.6033T>G (p.Phe2011Leu) rs1671969545 0.00001
NM_001378454.1(ALMS1):c.6077A>G (p.Lys2026Arg) rs367904732 0.00001
NM_001378454.1(ALMS1):c.6092T>C (p.Ile2031Thr) rs374673974 0.00001
NM_001378454.1(ALMS1):c.6121C>G (p.Gln2041Glu) rs780824087 0.00001
NM_001378454.1(ALMS1):c.6138T>G (p.Ser2046Arg) rs780566681 0.00001
NM_001378454.1(ALMS1):c.6190G>A (p.Asp2064Asn) rs183773481 0.00001
NM_001378454.1(ALMS1):c.6199C>G (p.Gln2067Glu) rs886042711 0.00001
NM_001378454.1(ALMS1):c.6251A>G (p.Asn2084Ser) rs771084714 0.00001
NM_001378454.1(ALMS1):c.6359A>G (p.Lys2120Arg) rs745919138 0.00001
NM_001378454.1(ALMS1):c.6477A>T (p.Arg2159Ser) rs772943318 0.00001
NM_001378454.1(ALMS1):c.6584A>T (p.His2195Leu) rs1671984408 0.00001
NM_001378454.1(ALMS1):c.6604G>A (p.Val2202Ile) rs371544118 0.00001
NM_001378454.1(ALMS1):c.6629A>T (p.Asn2210Ile) rs1026749292 0.00001
NM_001378454.1(ALMS1):c.6889T>A (p.Ser2297Thr) rs771228376 0.00001
NM_001378454.1(ALMS1):c.7091A>C (p.Gln2364Pro) rs370992564 0.00001
NM_001378454.1(ALMS1):c.7217C>T (p.Pro2406Leu) rs1481573722 0.00001
NM_001378454.1(ALMS1):c.7376G>C (p.Ser2459Thr) rs778055498 0.00001
NM_001378454.1(ALMS1):c.739A>G (p.Ser247Gly) rs1055600080 0.00001
NM_001378454.1(ALMS1):c.7526G>A (p.Arg2509Gln) rs551433143 0.00001
NM_001378454.1(ALMS1):c.7840A>G (p.Arg2614Gly) rs769890820 0.00001
NM_001378454.1(ALMS1):c.8239G>T (p.Val2747Leu) rs878855002 0.00001
NM_001378454.1(ALMS1):c.8420A>C (p.Gln2807Pro) rs768782274 0.00001
NM_001378454.1(ALMS1):c.8541G>T (p.Met2847Ile) rs1183007080 0.00001
NM_001378454.1(ALMS1):c.8560C>G (p.Leu2854Val) rs765176591 0.00001
NM_001378454.1(ALMS1):c.873T>G (p.Ser291Arg) rs747529881 0.00001
NM_001378454.1(ALMS1):c.8960T>C (p.Leu2987Pro) rs1465260699 0.00001
NM_001378454.1(ALMS1):c.8974G>T (p.Asp2992Tyr) rs937731506 0.00001
NM_001378454.1(ALMS1):c.9029T>C (p.Ile3010Thr) rs780894681 0.00001
NM_001378454.1(ALMS1):c.9161A>G (p.Lys3054Arg) rs778324244 0.00001
NM_001378454.1(ALMS1):c.9214G>C (p.Asp3072His) rs1022898016 0.00001
NM_001378454.1(ALMS1):c.9397C>G (p.Pro3133Ala) rs45493191 0.00001
NM_001378454.1(ALMS1):c.9454A>G (p.Ile3152Val) rs761831256 0.00001
NM_001378454.1(ALMS1):c.951A>C (p.Gln317His) rs1233763940 0.00001
NM_001378454.1(ALMS1):c.9553A>T (p.Met3185Leu) rs1421714540 0.00001
NM_001378454.1(ALMS1):c.9652A>T (p.Ile3218Phe) rs771768835 0.00001
NM_001378454.1(ALMS1):c.9669A>C (p.Glu3223Asp) rs376206840 0.00001
NM_001378454.1(ALMS1):c.9702C>G (p.Asn3234Lys) rs771376818 0.00001
NM_001378454.1(ALMS1):c.9782-4T>C rs1313825506 0.00001
NM_001378454.1(ALMS1):c.9803A>G (p.Tyr3268Cys) rs375515965 0.00001
NM_001378454.1(ALMS1):c.9871T>C (p.Ser3291Pro) rs759591871 0.00001
NM_001378969.1(KCND3):c.1277G>A (p.Arg426His) rs760274429 0.00001
NM_001378969.1(KCND3):c.1371G>A (p.Thr457=) rs773858454 0.00001
NM_001378969.1(KCND3):c.1393A>G (p.Met465Val) rs1245864814 0.00001
NM_001378969.1(KCND3):c.1427A>G (p.His476Arg) rs1571626155 0.00001
NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys) rs1294150954 0.00001
NM_001378969.1(KCND3):c.1724C>T (p.Thr575Met) rs775768536 0.00001
NM_001378969.1(KCND3):c.1849A>G (p.Ile617Val) rs948125814 0.00001
NM_001378969.1(KCND3):c.1861C>G (p.Pro621Ala) rs752495973 0.00001
NM_001378969.1(KCND3):c.1879G>A (p.Gly627Arg) rs372362132 0.00001
NM_001378969.1(KCND3):c.38G>A (p.Arg13Gln) rs1339082402 0.00001
NM_001378969.1(KCND3):c.89C>A (p.Ala30Asp) rs1307934269 0.00001
NM_001378969.1(KCND3):c.98A>T (p.Asp33Val) rs760460512 0.00001
NM_001379200.1(TBX1):c.1025G>A (p.Gly342Asp) rs1191464098 0.00001
NM_001379200.1(TBX1):c.1069G>T (p.Asp357Tyr) rs1407996016 0.00001
NM_001379200.1(TBX1):c.1103C>A (p.Ala368Glu) rs1157536437 0.00001
NM_001379200.1(TBX1):c.1240C>T (p.Pro414Ser) rs757648761 0.00001
NM_001379200.1(TBX1):c.1297G>A (p.Asp433Asn) rs758517884 0.00001
NM_001379200.1(TBX1):c.200C>T (p.Pro67Leu) rs1936641756 0.00001
NM_001379200.1(TBX1):c.637G>A (p.Ala213Thr) rs748232668 0.00001
NM_001458.5(FLNC):c.1054G>A (p.Val352Met) rs773023988 0.00001
NM_001458.5(FLNC):c.1097T>C (p.Val366Ala) rs1324323411 0.00001
NM_001458.5(FLNC):c.1171G>A (p.Val391Met) rs757887021 0.00001
NM_001458.5(FLNC):c.1216G>A (p.Gly406Ser) rs1343684536 0.00001
NM_001458.5(FLNC):c.1304C>T (p.Thr435Met) rs199935488 0.00001
NM_001458.5(FLNC):c.1310G>A (p.Arg437His) rs370138936 0.00001
NM_001458.5(FLNC):c.1406C>T (p.Ser469Leu) rs1279257124 0.00001
NM_001458.5(FLNC):c.1412-5C>T rs765122668 0.00001
NM_001458.5(FLNC):c.1418A>G (p.Asn473Ser) rs747289343 0.00001
NM_001458.5(FLNC):c.1426G>T (p.Ala476Ser) rs746359389 0.00001
NM_001458.5(FLNC):c.1433G>A (p.Arg478His) rs749593461 0.00001
NM_001458.5(FLNC):c.1435G>A (p.Ala479Thr) rs772697482 0.00001
NM_001458.5(FLNC):c.1468C>T (p.Arg490Cys) rs1422233407 0.00001
NM_001458.5(FLNC):c.1469G>A (p.Arg490His) rs1046320257 0.00001
NM_001458.5(FLNC):c.152A>G (p.Lys51Arg) rs1807854319 0.00001
NM_001458.5(FLNC):c.161G>A (p.Gly54Asp) rs1032152678 0.00001
NM_001458.5(FLNC):c.1663G>A (p.Ala555Thr) rs1163059574 0.00001
NM_001458.5(FLNC):c.1729T>G (p.Trp577Gly) rs757878206 0.00001
NM_001458.5(FLNC):c.1766C>T (p.Ser589Leu) rs780098760 0.00001
NM_001458.5(FLNC):c.1825G>A (p.Glu609Lys) rs758389160 0.00001
NM_001458.5(FLNC):c.1840G>A (p.Ala614Thr) rs746183882 0.00001
NM_001458.5(FLNC):c.185G>A (p.Arg62His) rs1308771065 0.00001
NM_001458.5(FLNC):c.1867G>A (p.Asp623Asn) rs912680912 0.00001
NM_001458.5(FLNC):c.196G>T (p.Asp66Tyr) rs1373245749 0.00001
NM_001458.5(FLNC):c.1979C>T (p.Pro660Leu) rs775292418 0.00001
NM_001458.5(FLNC):c.2023C>T (p.Pro675Ser) rs1227192105 0.00001
NM_001458.5(FLNC):c.2170G>A (p.Gly724Ser) rs764774528 0.00001
NM_001458.5(FLNC):c.2191G>A (p.Val731Met) rs757110783 0.00001
NM_001458.5(FLNC):c.2245G>A (p.Val749Met) rs763901270 0.00001
NM_001458.5(FLNC):c.2263C>T (p.Arg755Trp) rs990718751 0.00001
NM_001458.5(FLNC):c.2264G>A (p.Arg755Gln) rs781101985 0.00001
NM_001458.5(FLNC):c.2265+5G>A rs1049500135 0.00001
NM_001458.5(FLNC):c.2293G>A (p.Glu765Lys) rs373798394 0.00001
NM_001458.5(FLNC):c.2305G>T (p.Val769Leu) rs1046022647 0.00001
NM_001458.5(FLNC):c.2317G>A (p.Gly773Arg) rs1322212555 0.00001
NM_001458.5(FLNC):c.232A>C (p.Ser78Arg) rs746082496 0.00001
NM_001458.5(FLNC):c.2345A>G (p.Asn782Ser) rs767436158 0.00001
NM_001458.5(FLNC):c.2361C>G (p.Phe787Leu) rs1471063024 0.00001
NM_001458.5(FLNC):c.2389+4C>T rs1057523921 0.00001
NM_001458.5(FLNC):c.2400C>A (p.Ser800Arg) rs748717566 0.00001
NM_001458.5(FLNC):c.2404G>A (p.Gly802Ser) rs371398126 0.00001
NM_001458.5(FLNC):c.2516G>A (p.Gly839Asp) rs940353148 0.00001
NM_001458.5(FLNC):c.2557C>T (p.Pro853Ser) rs374302753 0.00001
NM_001458.5(FLNC):c.2587C>G (p.Pro863Ala) rs754750752 0.00001
NM_001458.5(FLNC):c.2617G>A (p.Glu873Lys) rs771092335 0.00001
NM_001458.5(FLNC):c.2639C>T (p.Thr880Ile) rs1324832799 0.00001
NM_001458.5(FLNC):c.2653G>A (p.Gly885Arg) rs769110628 0.00001
NM_001458.5(FLNC):c.2672C>T (p.Thr891Met) rs766023596 0.00001
NM_001458.5(FLNC):c.2767A>C (p.Asn923His) rs1420123492 0.00001
NM_001458.5(FLNC):c.2780C>T (p.Ser927Phe) rs1585158690 0.00001
NM_001458.5(FLNC):c.2811+4C>T rs146715204 0.00001
NM_001458.5(FLNC):c.2811+5G>A rs781538211 0.00001
NM_001458.5(FLNC):c.2884C>A (p.Pro962Thr) rs765301554 0.00001
NM_001458.5(FLNC):c.2967C>A (p.Asn989Lys) rs775727204 0.00001
NM_001458.5(FLNC):c.2983G>A (p.Gly995Ser) rs752053093 0.00001
NM_001458.5(FLNC):c.2999A>C (p.Asp1000Ala) rs1457558516 0.00001
NM_001458.5(FLNC):c.3080G>A (p.Arg1027His) rs904161285 0.00001
NM_001458.5(FLNC):c.3127G>A (p.Asp1043Asn) rs755896041 0.00001
NM_001458.5(FLNC):c.3137C>T (p.Pro1046Leu) rs768820218 0.00001
NM_001458.5(FLNC):c.3467G>A (p.Ser1156Asn) rs768725458 0.00001
NM_001458.5(FLNC):c.3475C>T (p.Arg1159Trp) rs760500171 0.00001
NM_001458.5(FLNC):c.3476G>A (p.Arg1159Gln) rs141199483 0.00001
NM_001458.5(FLNC):c.3745G>A (p.Asp1249Asn) rs774968828 0.00001
NM_001458.5(FLNC):c.3773C>G (p.Pro1258Arg) rs1425684282 0.00001
NM_001458.5(FLNC):c.3893C>T (p.Ala1298Val) rs1064796931 0.00001
NM_001458.5(FLNC):c.3928G>A (p.Gly1310Ser) rs767079356 0.00001
NM_001458.5(FLNC):c.4030G>A (p.Val1344Met) rs374127804 0.00001
NM_001458.5(FLNC):c.4057G>A (p.Val1353Ile) rs1321855034 0.00001
NM_001458.5(FLNC):c.4069G>A (p.Gly1357Arg) rs1218299104 0.00001
NM_001458.5(FLNC):c.407C>T (p.Thr136Met) rs748919727 0.00001
NM_001458.5(FLNC):c.4109G>A (p.Arg1370Gln) rs761881020 0.00001
NM_001458.5(FLNC):c.4133C>T (p.Ala1378Val) rs748008658 0.00001
NM_001458.5(FLNC):c.4141G>A (p.Gly1381Arg) rs766513255 0.00001
NM_001458.5(FLNC):c.4180A>G (p.Lys1394Glu) rs1430761286 0.00001
NM_001458.5(FLNC):c.4219G>A (p.Val1407Met) rs375366821 0.00001
NM_001458.5(FLNC):c.4229T>A (p.Ile1410Asn) rs778951900 0.00001
NM_001458.5(FLNC):c.4232C>T (p.Pro1411Leu) rs1808589575 0.00001
NM_001458.5(FLNC):c.4303G>A (p.Val1435Met) rs370643162 0.00001
NM_001458.5(FLNC):c.4310T>C (p.Val1437Ala) rs754170282 0.00001
NM_001458.5(FLNC):c.4378C>T (p.Arg1460Trp) rs376265227 0.00001
NM_001458.5(FLNC):c.4379G>A (p.Arg1460Gln) rs773716930 0.00001
NM_001458.5(FLNC):c.439A>G (p.Met147Val) rs539316555 0.00001
NM_001458.5(FLNC):c.4424C>T (p.Ala1475Val) rs369305865 0.00001
NM_001458.5(FLNC):c.4471G>A (p.Val1491Met) rs186904046 0.00001
NM_001458.5(FLNC):c.4549G>A (p.Val1517Ile) rs532654321 0.00001
NM_001458.5(FLNC):c.4577G>A (p.Arg1526His) rs374729872 0.00001
NM_001458.5(FLNC):c.4590G>T (p.Lys1530Asn) rs778534100 0.00001
NM_001458.5(FLNC):c.4628G>A (p.Arg1543Gln) rs369178040 0.00001
NM_001458.5(FLNC):c.4661T>C (p.Ile1554Thr) rs777526166 0.00001
NM_001458.5(FLNC):c.4678G>C (p.Val1560Leu) rs1351915127 0.00001
NM_001458.5(FLNC):c.4696G>A (p.Ala1566Thr) rs1161262954 0.00001
NM_001458.5(FLNC):c.470G>A (p.Arg157His) rs752919962 0.00001
NM_001458.5(FLNC):c.4741C>A (p.Pro1581Thr) rs972936640 0.00001
NM_001458.5(FLNC):c.4795A>G (p.Thr1599Ala) rs2643767 0.00001
NM_001458.5(FLNC):c.4879C>T (p.Arg1627Cys) rs760407609 0.00001
NM_001458.5(FLNC):c.490C>T (p.Arg164Trp) rs1460797312 0.00001
NM_001458.5(FLNC):c.4952G>A (p.Gly1651Asp) rs762493974 0.00001
NM_001458.5(FLNC):c.5051C>T (p.Thr1684Met) rs1294213097 0.00001
NM_001458.5(FLNC):c.5054C>T (p.Pro1685Leu) rs1385628312 0.00001
NM_001458.5(FLNC):c.5111T>C (p.Ile1704Thr) rs752850659 0.00001
NM_001458.5(FLNC):c.5132C>T (p.Pro1711Leu) rs748879903 0.00001
NM_001458.5(FLNC):c.5155C>T (p.Arg1719Cys) rs773260834 0.00001
NM_001458.5(FLNC):c.5176C>T (p.Pro1726Ser) rs529240463 0.00001
NM_001458.5(FLNC):c.5191C>T (p.His1731Tyr) rs1255727604 0.00001
NM_001458.5(FLNC):c.5272C>T (p.Arg1758Trp) rs369187211 0.00001
NM_001458.5(FLNC):c.5275C>T (p.Pro1759Ser) rs892618706 0.00001
NM_001458.5(FLNC):c.5332A>G (p.Met1778Val) rs1347090077 0.00001
NM_001458.5(FLNC):c.5353T>A (p.Phe1785Ile) rs1035403005 0.00001
NM_001458.5(FLNC):c.5446G>A (p.Asp1816Asn) rs1198641168 0.00001
NM_001458.5(FLNC):c.5449A>T (p.Asn1817Tyr) rs373146637 0.00001
NM_001458.5(FLNC):c.5523C>T (p.Asp1841=) rs748504948 0.00001
NM_001458.5(FLNC):c.5670G>A (p.Gly1890=) rs369881758 0.00001
NM_001458.5(FLNC):c.5686G>A (p.Val1896Met) rs891651799 0.00001
NM_001458.5(FLNC):c.5758C>A (p.Pro1920Thr) rs751937921 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.5903A>C (p.Lys1968Thr) rs777028481 0.00001
NM_001458.5(FLNC):c.590A>G (p.Asn197Ser) rs1008787584 0.00001
NM_001458.5(FLNC):c.5915G>A (p.Ser1972Asn) rs761342219 0.00001
NM_001458.5(FLNC):c.5962G>A (p.Glu1988Lys) rs1288953274 0.00001
NM_001458.5(FLNC):c.6000C>G (p.His2000Gln) rs1254027067 0.00001
NM_001458.5(FLNC):c.6043G>A (p.Val2015Met) rs775231810 0.00001
NM_001458.5(FLNC):c.613G>A (p.Asp205Asn) rs767740333 0.00001
NM_001458.5(FLNC):c.6149G>A (p.Gly2050Glu) rs1261109029 0.00001
NM_001458.5(FLNC):c.61A>G (p.Met21Val) rs1174042673 0.00001
NM_001458.5(FLNC):c.6233T>C (p.Ile2078Thr) rs780762913 0.00001
NM_001458.5(FLNC):c.635A>G (p.Asn212Ser) rs756723697 0.00001
NM_001458.5(FLNC):c.6391G>A (p.Glu2131Lys) rs757511370 0.00001
NM_001458.5(FLNC):c.652G>A (p.Ala218Thr) rs777415462 0.00001
NM_001458.5(FLNC):c.6530C>A (p.Thr2177Asn) rs756345989 0.00001
NM_001458.5(FLNC):c.6590G>A (p.Arg2197Gln) rs760535041 0.00001
NM_001458.5(FLNC):c.6608G>A (p.Arg2203His) rs1063262 0.00001
NM_001458.5(FLNC):c.6610G>A (p.Glu2204Lys) rs1476564683 0.00001
NM_001458.5(FLNC):c.6640G>A (p.Gly2214Ser) rs1431110219 0.00001
NM_001458.5(FLNC):c.6659C>T (p.Ala2220Val) rs370839908 0.00001
NM_001458.5(FLNC):c.6683G>A (p.Arg2228Gln) rs765438770 0.00001
NM_001458.5(FLNC):c.6703G>A (p.Gly2235Ser) rs752159793 0.00001
NM_001458.5(FLNC):c.6724G>A (p.Glu2242Lys) rs1265897548 0.00001
NM_001458.5(FLNC):c.676G>A (p.Asp226Asn) rs745775171 0.00001
NM_001458.5(FLNC):c.6807C>T (p.Gly2269=) rs777337698 0.00001
NM_001458.5(FLNC):c.6877C>T (p.Arg2293Cys) rs571239463 0.00001
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met) rs1420394583 0.00001
NM_001458.5(FLNC):c.6953G>A (p.Arg2318Gln) rs749235580 0.00001
NM_001458.5(FLNC):c.6997+4A>G rs1227552125 0.00001
NM_001458.5(FLNC):c.7094A>G (p.Lys2365Arg) rs751765487 0.00001
NM_001458.5(FLNC):c.7222G>A (p.Ala2408Thr) rs376257910 0.00001
NM_001458.5(FLNC):c.7226G>A (p.Arg2409His) rs767279710 0.00001
NM_001458.5(FLNC):c.7280C>T (p.Ala2427Val) rs1343869103 0.00001
NM_001458.5(FLNC):c.731A>G (p.Asn244Ser) rs773579752 0.00001
NM_001458.5(FLNC):c.7364A>G (p.Tyr2455Cys) rs769298304 0.00001
NM_001458.5(FLNC):c.7399C>T (p.Arg2467Cys) rs1278916117 0.00001
NM_001458.5(FLNC):c.7423G>A (p.Val2475Ile) rs191224002 0.00001
NM_001458.5(FLNC):c.7439T>C (p.Val2480Ala) rs1376119645 0.00001
NM_001458.5(FLNC):c.7561G>A (p.Gly2521Ser) rs746969946 0.00001
NM_001458.5(FLNC):c.7576T>A (p.Phe2526Ile) rs373973635 0.00001
NM_001458.5(FLNC):c.7657C>T (p.Arg2553Trp) rs199519281 0.00001
NM_001458.5(FLNC):c.7709A>G (p.Asn2570Ser) rs1381739439 0.00001
NM_001458.5(FLNC):c.7732G>A (p.Gly2578Ser) rs566747845 0.00001
NM_001458.5(FLNC):c.7795G>A (p.Gly2599Arg) rs1389561527 0.00001
NM_001458.5(FLNC):c.7807C>T (p.Leu2603Phe) rs746685461 0.00001
NM_001458.5(FLNC):c.7840G>A (p.Val2614Met) rs745434129 0.00001
NM_001458.5(FLNC):c.7946T>C (p.Phe2649Ser) rs755387909 0.00001
NM_001458.5(FLNC):c.802G>A (p.Val268Ile) rs1210929657 0.00001
NM_001458.5(FLNC):c.8047T>A (p.Tyr2683Asn) rs1377893206 0.00001
NM_001458.5(FLNC):c.851-5C>T rs758216356 0.00001
NM_001458.5(FLNC):c.905C>T (p.Thr302Met) rs776362922 0.00001
NM_001458.5(FLNC):c.970-3T>C rs1250140261 0.00001
NM_001458.5(FLNC):c.986A>G (p.Asn329Ser) rs536935095 0.00001
NM_001711.6(BGN):c.416A>T (p.Lys139Met) rs1556993003 0.00001
NM_001711.6(BGN):c.508C>T (p.Arg170Cys) rs782179570 0.00001
NM_001711.6(BGN):c.509G>A (p.Arg170His) rs782454465 0.00001
NM_001743.6(CALM2):c.104C>T (p.Thr35Ile) rs757523692 0.00001
NM_001927.4(DES):c.1038G>A (p.Met346Ile) rs778340812 0.00001
NM_001927.4(DES):c.1063C>T (p.Arg355Ter) rs762808690 0.00001
NM_001927.4(DES):c.1079C>T (p.Ala360Val) rs141592925 0.00001
NM_001927.4(DES):c.1103C>T (p.Ala368Val) rs371830218 0.00001
NM_001927.4(DES):c.1105C>T (p.Arg369Cys) rs1475674849 0.00001
NM_001927.4(DES):c.1148G>A (p.Arg383His) rs1292042317 0.00001
NM_001927.4(DES):c.1217G>A (p.Arg406Gln) rs1057520275 0.00001
NM_001927.4(DES):c.1333A>G (p.Thr445Ala) rs267607498 0.00001
NM_001927.4(DES):c.1361G>A (p.Arg454Gln) rs541585670 0.00001
NM_001927.4(DES):c.1404A>C (p.Glu468Asp) rs397516691 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001927.4(DES):c.286G>T (p.Ala96Ser) rs201190593 0.00001
NM_001927.4(DES):c.313C>T (p.Arg105Cys) rs794728993 0.00001
NM_001927.4(DES):c.328G>C (p.Val110Leu) rs373081285 0.00001
NM_001927.4(DES):c.415G>C (p.Glu139Gln) rs763769862 0.00001
NM_001927.4(DES):c.488G>C (p.Arg163Pro) rs1457012198 0.00001
NM_001927.4(DES):c.517C>A (p.Arg173Ser) rs752944882 0.00001
NM_001927.4(DES):c.565C>T (p.Arg189Trp) rs1223277151 0.00001
NM_001927.4(DES):c.593T>C (p.Ile198Thr) rs773271116 0.00001
NM_001927.4(DES):c.600del (p.Lys201fs) rs727504448 0.00001
NM_001927.4(DES):c.640-4C>G rs375680081 0.00001
NM_001927.4(DES):c.664C>T (p.Arg222Cys) rs374687448 0.00001
NM_001927.4(DES):c.710C>T (p.Ala237Val) rs374144840 0.00001
NM_001927.4(DES):c.727C>T (p.His243Tyr) rs769647148 0.00001
NM_001927.4(DES):c.746A>C (p.Glu249Ala) rs1256488465 0.00001
NM_001927.4(DES):c.794T>C (p.Met265Thr) rs1457398926 0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser) rs727504877 0.00001
NM_001927.4(DES):c.83C>T (p.Ser28Phe) rs1954361986 0.00001
NM_001943.5(DSG2):c.1000G>A (p.Val334Met) rs761360851 0.00001
NM_001943.5(DSG2):c.1013A>T (p.Lys338Met) rs1454000095 0.00001
NM_001943.5(DSG2):c.1045G>A (p.Asp349Asn) rs754281384 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.1105A>G (p.Lys369Glu) rs727505208 0.00001
NM_001943.5(DSG2):c.1106A>T (p.Lys369Met) rs375740419 0.00001
NM_001943.5(DSG2):c.1163T>G (p.Phe388Cys) rs369214871 0.00001
NM_001943.5(DSG2):c.1281A>T (p.Arg427Ser) rs370547219 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.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.1622C>G (p.Ala541Gly) rs764745535 0.00001
NM_001943.5(DSG2):c.1784A>G (p.His595Arg) rs371326860 0.00001
NM_001943.5(DSG2):c.1921G>A (p.Ala641Thr) rs1445203397 0.00001
NM_001943.5(DSG2):c.2001+3C>G rs746471051 0.00001
NM_001943.5(DSG2):c.2068A>G (p.Met690Val) rs1453554024 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.2215A>G (p.Ile739Val) rs772240008 0.00001
NM_001943.5(DSG2):c.2399C>G (p.Ser800Cys) rs794728090 0.00001
NM_001943.5(DSG2):c.2420T>C (p.Leu807Pro) rs1384172051 0.00001
NM_001943.5(DSG2):c.2525G>A (p.Gly842Asp) rs374177723 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.2681T>G (p.Leu894Trp) rs759746836 0.00001
NM_001943.5(DSG2):c.2690C>A (p.Ala897Asp) rs765238150 0.00001
NM_001943.5(DSG2):c.3044T>C (p.Met1015Thr) rs886053716 0.00001
NM_001943.5(DSG2):c.308T>C (p.Val103Ala) rs876657790 0.00001
NM_001943.5(DSG2):c.445G>A (p.Val149Ile) rs372606274 0.00001
NM_001943.5(DSG2):c.46A>G (p.Ile16Val) rs376660601 0.00001
NM_001943.5(DSG2):c.523C>T (p.His175Tyr) rs375422019 0.00001
NM_001943.5(DSG2):c.562G>A (p.Glu188Lys) rs763948986 0.00001
NM_001943.5(DSG2):c.581C>T (p.Ser194Leu) rs374875442 0.00001
NM_001943.5(DSG2):c.613C>T (p.Pro205Ser) rs200946320 0.00001
NM_001943.5(DSG2):c.713C>T (p.Thr238Ile) rs767523704 0.00001
NM_001943.5(DSG2):c.828+5C>T rs373286117 0.00001
NM_001943.5(DSG2):c.872C>T (p.Thr291Met) rs774563205 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_001943.5(DSG2):c.889G>A (p.Asp297Asn) rs751012696 0.00001
NM_001943.5(DSG2):c.902T>C (p.Ile301Thr) rs1370553229 0.00001
NM_001943.5(DSG2):c.908C>T (p.Ser303Phe) rs757792714 0.00001
NM_001943.5(DSG2):c.998T>C (p.Ile333Thr) rs773871942 0.00001
NM_001999.4(FBN2):c.1180C>T (p.Arg394Cys) rs563228953 0.00001
NM_001999.4(FBN2):c.3958A>G (p.Met1320Val) rs759481427 0.00001
NM_001999.4(FBN2):c.671T>C (p.Met224Thr) rs886038798 0.00001
NM_001999.4(FBN2):c.8513A>G (p.Gln2838Arg) rs772928933 0.00001
NM_002230.4(JUP):c.100G>A (p.Val34Met) rs794729029 0.00001
NM_002230.4(JUP):c.1096C>A (p.Pro366Thr) rs782690097 0.00001
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser) rs368564000 0.00001
NM_002230.4(JUP):c.1213G>A (p.Val405Ile) rs200019016 0.00001
NM_002230.4(JUP):c.1308G>T (p.Glu436Asp) rs782594495 0.00001
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro) rs782465430 0.00001
NM_002230.4(JUP):c.1336G>T (p.Gly446Cys) rs781876461 0.00001
NM_002230.4(JUP):c.1378C>T (p.Arg460Cys) rs782575391 0.00001
NM_002230.4(JUP):c.1391G>A (p.Ser464Asn) rs1060502681 0.00001
NM_002230.4(JUP):c.1394G>A (p.Arg465His) rs369486398 0.00001
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu) rs139454583 0.00001
NM_002230.4(JUP):c.1624G>A (p.Val542Ile) rs571375136 0.00001
NM_002230.4(JUP):c.1652C>T (p.Thr551Met) rs1038719021 0.00001
NM_002230.4(JUP):c.1667T>C (p.Met556Thr) rs781884735 0.00001
NM_002230.4(JUP):c.1730G>A (p.Arg577His) rs373434456 0.00001
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp) rs782205755 0.00001
NM_002230.4(JUP):c.1760C>T (p.Pro587Leu) rs782490959 0.00001
NM_002230.4(JUP):c.1787C>T (p.Ser596Leu) rs940226194 0.00001
NM_002230.4(JUP):c.1805G>A (p.Arg602His) rs909955430 0.00001
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr) rs782547688 0.00001
NM_002230.4(JUP):c.1990G>A (p.Val664Met) rs782695128 0.00001
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr) rs1181838480 0.00001
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly) rs781859850 0.00001
NM_002230.4(JUP):c.211G>T (p.Asp71Tyr) rs781869872 0.00001
NM_002230.4(JUP):c.2132T>C (p.Leu711Pro) rs782096012 0.00001
NM_002230.4(JUP):c.2149C>G (p.His717Asp) rs1347008405 0.00001
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn) rs1285789744 0.00001
NM_002230.4(JUP):c.256C>T (p.Arg86Trp) rs782240305 0.00001
NM_002230.4(JUP):c.285C>T (p.Gly95=) rs1555605900 0.00001
NM_002230.4(JUP):c.343C>T (p.Arg115Ter) rs782203227 0.00001
NM_002230.4(JUP):c.424C>T (p.Arg142Cys) rs199591001 0.00001
NM_002230.4(JUP):c.562G>A (p.Ala188Thr) rs782585387 0.00001
NM_002230.4(JUP):c.571C>T (p.Arg191Cys) rs781905238 0.00001
NM_002230.4(JUP):c.628C>T (p.His210Tyr) rs1567818128 0.00001
NM_002230.4(JUP):c.647G>A (p.Arg216Gln) rs782498980 0.00001
NM_002230.4(JUP):c.698G>A (p.Arg233His) rs1304500107 0.00001
NM_002230.4(JUP):c.705C>T (p.Leu235=) rs887639693 0.00001
NM_002230.4(JUP):c.707+5C>A rs375580484 0.00001
NM_002230.4(JUP):c.793C>T (p.Arg265Cys) rs782761197 0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692 0.00001
NM_002230.4(JUP):c.818T>C (p.Met273Thr) rs782091454 0.00001
NM_002230.4(JUP):c.849G>T (p.Lys283Asn) rs794729054 0.00001
NM_002230.4(JUP):c.868G>A (p.Asp290Asn) rs982161216 0.00001
NM_002230.4(JUP):c.884T>C (p.Leu295Pro) rs1567815863 0.00001
NM_002230.4(JUP):c.946G>A (p.Val316Met) rs782285849 0.00001
NM_002294.3(LAMP2):c.1067A>G (p.Asn356Ser) rs775416221 0.00001
NM_002294.3(LAMP2):c.1069G>A (p.Val357Met) rs886038907 0.00001
NM_002294.3(LAMP2):c.188C>T (p.Thr63Ile) rs1358581771 0.00001
NM_002294.3(LAMP2):c.205C>T (p.His69Tyr) rs776875696 0.00001
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val) rs1340367353 0.00001
NM_002294.3(LAMP2):c.23C>T (p.Pro8Leu) rs878854484 0.00001
NM_002294.3(LAMP2):c.253G>A (p.Gly85Ser) rs371149731 0.00001
NM_002294.3(LAMP2):c.461A>G (p.Asn154Ser) rs773525538 0.00001
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys) rs104894857 0.00001
NM_002294.3(LAMP2):c.572A>T (p.Lys191Ile) rs767918596 0.00001
NM_002294.3(LAMP2):c.959A>G (p.Tyr320Cys) rs1292531971 0.00001
NM_002317.7(LOX):c.1207A>G (p.Thr403Ala) rs554322205 0.00001
NM_002317.7(LOX):c.203G>C (p.Arg68Pro) rs994242735 0.00001
NM_002317.7(LOX):c.218G>A (p.Gly73Asp) rs766220173 0.00001
NM_002317.7(LOX):c.355C>A (p.Pro119Thr) rs1336143561 0.00001
NM_002317.7(LOX):c.769T>C (p.Tyr257His) rs768853538 0.00001
NM_002471.4(MYH6):c.1120G>T (p.Ala374Ser) rs1891633873 0.00001
NM_002471.4(MYH6):c.1139A>C (p.Glu380Ala) rs747070258 0.00001
NM_002471.4(MYH6):c.1373T>C (p.Ile458Thr) rs774807696 0.00001
NM_002471.4(MYH6):c.1408G>T (p.Asp470Tyr) rs777651128 0.00001
NM_002471.4(MYH6):c.1486G>A (p.Val496Met) rs761085263 0.00001
NM_002471.4(MYH6):c.1492G>A (p.Glu498Lys) rs375142167 0.00001
NM_002471.4(MYH6):c.1531T>C (p.Phe511Leu) rs1319467982 0.00001
NM_002471.4(MYH6):c.1578G>C (p.Glu526Asp) rs753062079 0.00001
NM_002471.4(MYH6):c.1726G>A (p.Ala576Thr) rs1488705293 0.00001
NM_002471.4(MYH6):c.1750G>A (p.Ala584Thr) rs138317414 0.00001
NM_002471.4(MYH6):c.1771A>G (p.Ile591Val) rs1402004251 0.00001
NM_002471.4(MYH6):c.1816G>A (p.Val606Ile) rs772688148 0.00001
NM_002471.4(MYH6):c.182C>T (p.Ala61Val) rs730880148 0.00001
NM_002471.4(MYH6):c.1903A>G (p.Lys635Glu) rs1566512077 0.00001
NM_002471.4(MYH6):c.1977del (p.Lys659fs) rs780949569 0.00001
NM_002471.4(MYH6):c.2051-1G>A rs773772551 0.00001
NM_002471.4(MYH6):c.2086C>T (p.Arg696Cys) rs778886029 0.00001
NM_002471.4(MYH6):c.2087G>A (p.Arg696His) rs757728653 0.00001
NM_002471.4(MYH6):c.2098G>A (p.Val700Met) rs767142932 0.00001
NM_002471.4(MYH6):c.2273A>G (p.Tyr758Cys) rs528854076 0.00001
NM_002471.4(MYH6):c.2292+1G>A rs771569935 0.00001
NM_002471.4(MYH6):c.2336G>A (p.Arg779Gln) rs1486610243 0.00001
NM_002471.4(MYH6):c.2365C>T (p.Arg789Cys) rs200925880 0.00001
NM_002471.4(MYH6):c.2397G>A (p.Met799Ile) rs199993769 0.00001
NM_002471.4(MYH6):c.2398C>T (p.Arg800Cys) rs763477425 0.00001
NM_002471.4(MYH6):c.2426G>A (p.Arg809His) rs780036697 0.00001
NM_002471.4(MYH6):c.253G>A (p.Asp85Asn) rs397516758 0.00001
NM_002471.4(MYH6):c.2576G>C (p.Gly859Ala) rs779528748 0.00001
NM_002471.4(MYH6):c.2684C>T (p.Ala895Val) rs1372933415 0.00001
NM_002471.4(MYH6):c.2742G>T (p.Lys914Asn) rs1312659522 0.00001
NM_002471.4(MYH6):c.2771T>C (p.Met924Thr) rs746669440 0.00001
NM_002471.4(MYH6):c.2828G>A (p.Arg943His) rs766640013 0.00001
NM_002471.4(MYH6):c.2928G>A (p.Lys976=) rs757078942 0.00001
NM_002471.4(MYH6):c.2969T>A (p.Ile990Asn) rs766362714 0.00001
NM_002471.4(MYH6):c.2974G>A (p.Ala992Thr) rs779051645 0.00001
NM_002471.4(MYH6):c.2980C>A (p.Leu994Met) rs727503238 0.00001
NM_002471.4(MYH6):c.3088G>C (p.Glu1030Gln) rs779155360 0.00001
NM_002471.4(MYH6):c.3140G>A (p.Arg1047His) rs775843647 0.00001
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn) rs375169402 0.00001
NM_002471.4(MYH6):c.3316C>A (p.Leu1106Ile) rs1595055372 0.00001
NM_002471.4(MYH6):c.3506G>A (p.Arg1169His) rs975923796 0.00001
NM_002471.4(MYH6):c.3532C>T (p.Arg1178Trp) rs886039180 0.00001
NM_002471.4(MYH6):c.3533G>A (p.Arg1178Gln) rs758572490 0.00001
NM_002471.4(MYH6):c.3584G>A (p.Arg1195His) rs747891865 0.00001
NM_002471.4(MYH6):c.3658G>C (p.Glu1220Gln) rs1180345753 0.00001
NM_002471.4(MYH6):c.3758C>T (p.Thr1253Met) rs201051663 0.00001
NM_002471.4(MYH6):c.3784C>T (p.Arg1262Cys) rs397516763 0.00001
NM_002471.4(MYH6):c.3836G>A (p.Arg1279Gln) rs200014711 0.00001
NM_002471.4(MYH6):c.3838G>A (p.Ala1280Thr) rs762102758 0.00001
NM_002471.4(MYH6):c.4027G>A (p.Asp1343Asn) rs761711033 0.00001
NM_002471.4(MYH6):c.4048G>A (p.Glu1350Lys) rs756392451 0.00001
NM_002471.4(MYH6):c.4150C>T (p.Arg1384Trp) rs763926580 0.00001
NM_002471.4(MYH6):c.4292T>C (p.Met1431Thr) rs146015292 0.00001
NM_002471.4(MYH6):c.4307G>A (p.Arg1436His) rs142556730 0.00001
NM_002471.4(MYH6):c.4325C>T (p.Ala1442Val) rs141534763 0.00001
NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905 0.00001
NM_002471.4(MYH6):c.4396C>G (p.Gln1466Glu) rs773067289 0.00001
NM_002471.4(MYH6):c.4424A>G (p.Glu1475Gly) rs749826475 0.00001
NM_002471.4(MYH6):c.4465G>A (p.Ala1489Thr) rs761539900 0.00001
NM_002471.4(MYH6):c.4471G>A (p.Glu1491Lys) rs1314169075 0.00001
NM_002471.4(MYH6):c.4525G>T (p.Glu1509Ter) rs200380187 0.00001
NM_002471.4(MYH6):c.4602G>C (p.Gln1534His) rs199600772 0.00001
NM_002471.4(MYH6):c.4700T>G (p.Phe1567Cys) rs750138024 0.00001
NM_002471.4(MYH6):c.4780C>T (p.Arg1594Trp) rs545198745 0.00001
NM_002471.4(MYH6):c.4781G>A (p.Arg1594Gln) rs146095234 0.00001
NM_002471.4(MYH6):c.4798C>A (p.Gln1600Lys) rs770068575 0.00001
NM_002471.4(MYH6):c.4823G>A (p.Arg1608His) rs747494958 0.00001
NM_002471.4(MYH6):c.4834G>A (p.Glu1612Lys) rs1417882969 0.00001
NM_002471.4(MYH6):c.4874A>G (p.Asn1625Ser) rs776765616 0.00001
NM_002471.4(MYH6):c.4900G>A (p.Ala1634Thr) rs369767936 0.00001
NM_002471.4(MYH6):c.4907G>A (p.Arg1636His) rs746448302 0.00001
NM_002471.4(MYH6):c.493A>T (p.Met165Leu) rs972242173 0.00001
NM_002471.4(MYH6):c.4949G>A (p.Ser1650Asn) rs767073355 0.00001
NM_002471.4(MYH6):c.4960-3C>T rs1469231532 0.00001
NM_002471.4(MYH6):c.5072G>A (p.Arg1691His) rs727504502 0.00001
NM_002471.4(MYH6):c.5278G>A (p.Ala1760Thr) rs146539406 0.00001
NM_002471.4(MYH6):c.5297T>C (p.Met1766Thr) rs760667847 0.00001
NM_002471.4(MYH6):c.5336C>A (p.Ala1779Asp) rs769271404 0.00001
NM_002471.4(MYH6):c.5389C>G (p.His1797Asp) rs752680603 0.00001
NM_002471.4(MYH6):c.5393G>A (p.Arg1798Gln) rs759281871 0.00001
NM_002471.4(MYH6):c.5407G>C (p.Glu1803Gln) rs768893054 0.00001
NM_002471.4(MYH6):c.5540G>A (p.Arg1847Gln) rs767679378 0.00001
NM_002471.4(MYH6):c.5542C>T (p.Arg1848Cys) rs570853853 0.00001
NM_002471.4(MYH6):c.5635G>A (p.Ala1879Thr) rs1457647629 0.00001
NM_002471.4(MYH6):c.5645G>A (p.Arg1882His) rs199755234 0.00001
NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys) rs760353963 0.00001
NM_002471.4(MYH6):c.5767C>T (p.Arg1923Ter) rs765861895 0.00001
NM_002471.4(MYH6):c.5805G>T (p.Met1935Ile) rs372265811 0.00001
NM_002471.4(MYH6):c.5809G>A (p.Asp1937Asn) rs878854503 0.00001
NM_002471.4(MYH6):c.643-3T>C rs113552091 0.00001
NM_002471.4(MYH6):c.71T>C (p.Leu24Pro) rs1320990570 0.00001
NM_002471.4(MYH6):c.760G>A (p.Gly254Arg) rs765016322 0.00001
NM_002471.4(MYH6):c.779C>T (p.Ala260Val) rs1470827277 0.00001
NM_002471.4(MYH6):c.77C>G (p.Ala26Gly) rs559973480 0.00001
NM_002471.4(MYH6):c.940G>A (p.Val314Met) rs1260228019 0.00001
NM_002474.3(MYH11):c.2098C>T (p.Arg700Trp) rs886038932 0.00001
NM_002474.3(MYH11):c.3619G>A (p.Glu1207Lys) rs371831822 0.00001
NM_002474.3(MYH11):c.4135A>C (p.Lys1379Gln) rs753312858 0.00001
NM_002667.5(PLN):c.73C>T (p.Arg25Cys) rs761056344 0.00001
NM_002667.5(PLN):c.74G>A (p.Arg25His) rs1004405095 0.00001
NM_002709.3(PPP1CB):c.5C>T (p.Ala2Val) rs1305465866 0.00001
NM_002755.4(MAP2K1):c.1066A>G (p.Met356Val) rs1009731985 0.00001
NM_002755.4(MAP2K1):c.871A>G (p.Arg291Gly) rs747807884 0.00001
NM_002834.5(PTPN11):c.1004A>C (p.Gln335Pro) rs886041622 0.00001
NM_002834.5(PTPN11):c.1290C>A (p.Ser430Arg) rs1178602062 0.00001
NM_002834.5(PTPN11):c.1380-5C>T rs765455455 0.00001
NM_002834.5(PTPN11):c.1579C>T (p.Arg527Cys) rs191525506 0.00001
NM_002834.5(PTPN11):c.1696A>T (p.Thr566Ser) rs746712068 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.757-5T>C rs1442154422 0.00001
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg) rs777603059 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002834.5(PTPN11):c.967C>A (p.Pro323Thr) rs779400765 0.00001
NM_002880.4(RAF1):c.-4A>C rs368465923 0.00001
NM_002880.4(RAF1):c.1050G>T (p.Met350Ile) rs368860450 0.00001
NM_002880.4(RAF1):c.1247A>G (p.Asn416Ser) rs774198365 0.00001
NM_002880.4(RAF1):c.1334T>G (p.Leu445Arg) rs757591797 0.00001
NM_002880.4(RAF1):c.1553G>A (p.Arg518Gln) rs149580968 0.00001
NM_002880.4(RAF1):c.1657A>C (p.Asn553His) rs745876012 0.00001
NM_002880.4(RAF1):c.1741A>G (p.Met581Val) rs752063874 0.00001
NM_002880.4(RAF1):c.1885G>T (p.Ala629Ser) rs1243841152 0.00001
NM_002880.4(RAF1):c.1901T>C (p.Ile634Thr) rs1013186582 0.00001
NM_002880.4(RAF1):c.1910G>A (p.Cys637Tyr) rs769639669 0.00001
NM_002880.4(RAF1):c.23G>C (p.Trp8Ser) rs780550449 0.00001
NM_002880.4(RAF1):c.31A>T (p.Ile11Phe) rs779001930 0.00001
NM_002880.4(RAF1):c.347C>G (p.Thr116Ser) rs1285131074 0.00001
NM_002880.4(RAF1):c.462C>G (p.Ile154Met) rs367732360 0.00001
NM_002880.4(RAF1):c.482A>G (p.Asn161Ser) rs775781057 0.00001
NM_002880.4(RAF1):c.589C>G (p.Pro197Ala) rs563575013 0.00001
NM_002880.4(RAF1):c.676G>A (p.Val226Ile) rs746448519 0.00001
NM_002880.4(RAF1):c.683C>G (p.Ser228Cys) rs766437069 0.00001
NM_002880.4(RAF1):c.770C>G (p.Ser257Trp) rs80338796 0.00001
NM_002880.4(RAF1):c.791A>T (p.His264Leu) rs1057517887 0.00001
NM_002880.4(RAF1):c.835G>A (p.Asp279Asn) rs368796800 0.00001
NM_002880.4(RAF1):c.845G>A (p.Arg282Gln) rs752713997 0.00001
NM_002880.4(RAF1):c.915G>T (p.Trp305Cys) rs774670909 0.00001
NM_002880.4(RAF1):c.953G>A (p.Arg318Gln) rs757937109 0.00001
NM_002890.3(RASA1):c.1067T>C (p.Ile356Thr) rs1459576919 0.00001
NM_002890.3(RASA1):c.1073A>G (p.Lys358Arg) rs913909238 0.00001
NM_002890.3(RASA1):c.1172G>A (p.Arg391Gln) rs770469001 0.00001
NM_002890.3(RASA1):c.146A>G (p.Tyr49Cys) rs1580178685 0.00001
NM_002890.3(RASA1):c.179C>T (p.Thr60Ile) rs779770765 0.00001
NM_002890.3(RASA1):c.17C>T (p.Ala6Val) rs1010729751 0.00001
NM_002890.3(RASA1):c.2747A>G (p.Asn916Ser) rs765747521 0.00001
NM_002890.3(RASA1):c.3049G>A (p.Gly1017Ser) rs1762319822 0.00001
NM_002890.3(RASA1):c.338A>T (p.Asp113Val) rs748658296 0.00001
NM_002890.3(RASA1):c.917T>C (p.Met306Thr) rs757272694 0.00001
NM_003098.3(SNTA1):c.1021G>A (p.Ala341Thr) rs754242619 0.00001
NM_003098.3(SNTA1):c.1151A>G (p.Glu384Gly) rs1365956176 0.00001
NM_003098.3(SNTA1):c.1162G>A (p.Glu388Lys) rs570991600 0.00001
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val) rs121434500 0.00001
NM_003098.3(SNTA1):c.1279A>G (p.Ile427Val) rs151158866 0.00001
NM_003098.3(SNTA1):c.1325G>A (p.Arg442Gln) rs746800138 0.00001
NM_003098.3(SNTA1):c.1394T>C (p.Phe465Ser) rs774908810 0.00001
NM_003098.3(SNTA1):c.1425+1G>A rs113809208 0.00001
NM_003098.3(SNTA1):c.1484C>T (p.Ser495Leu) rs144006909 0.00001
NM_003098.3(SNTA1):c.200C>T (p.Ala67Val) rs536755693 0.00001
NM_003098.3(SNTA1):c.23C>T (p.Pro8Leu) rs1216164802 0.00001
NM_003098.3(SNTA1):c.316C>T (p.Arg106Trp) rs552509775 0.00001
NM_003098.3(SNTA1):c.344C>A (p.Ser115Tyr) rs1359697782 0.00001
NM_003098.3(SNTA1):c.364G>A (p.Ala122Thr) rs151113230 0.00001
NM_003098.3(SNTA1):c.403A>C (p.Ile135Leu) rs756587722 0.00001
NM_003098.3(SNTA1):c.419G>C (p.Gly140Ala) rs768194552 0.00001
NM_003098.3(SNTA1):c.459G>T (p.Gln153His) rs1471172997 0.00001
NM_003098.3(SNTA1):c.467A>G (p.Lys156Arg) rs772004957 0.00001
NM_003098.3(SNTA1):c.473C>T (p.Thr158Ile) rs908403821 0.00001
NM_003098.3(SNTA1):c.497-5A>G rs202178576 0.00001
NM_003098.3(SNTA1):c.514G>A (p.Val172Ile) rs775580363 0.00001
NM_003098.3(SNTA1):c.759T>A (p.Asp253Glu) rs759487225 0.00001
NM_003098.3(SNTA1):c.766A>T (p.Ser256Cys) rs192115867 0.00001
NM_003098.3(SNTA1):c.773G>A (p.Arg258Lys) rs776064801 0.00001
NM_003098.3(SNTA1):c.955A>G (p.Lys319Glu) rs766990229 0.00001
NM_003098.3(SNTA1):c.991C>T (p.Arg331Cys) rs769528459 0.00001
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val) rs137908708 0.00001
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys) rs886038960 0.00001
NM_003280.3(TNNC1):c.180G>A (p.Met60Ile) rs1471808574 0.00001
NM_003280.3(TNNC1):c.202+5G>C rs759472560 0.00001
NM_003280.3(TNNC1):c.208G>A (p.Gly70Ser) rs772752716 0.00001
NM_003280.3(TNNC1):c.242T>C (p.Met81Thr) rs771216638 0.00001
NM_003280.3(TNNC1):c.304C>T (p.Arg102Cys) rs370103102 0.00001
NM_003280.3(TNNC1):c.305G>A (p.Arg102His) rs143020831 0.00001
NM_003280.3(TNNC1):c.386C>T (p.Thr129Met) rs749367654 0.00001
NM_003280.3(TNNC1):c.402G>T (p.Glu134Asp) rs397516847 0.00001
NM_003280.3(TNNC1):c.418G>A (p.Gly140Arg) rs752100917 0.00001
NM_003280.3(TNNC1):c.419G>A (p.Gly140Glu) rs764835690 0.00001
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp) rs730881061 0.00001
NM_003280.3(TNNC1):c.436G>A (p.Gly146Ser) rs567327895 0.00001
NM_003280.3(TNNC1):c.469A>C (p.Met157Leu) rs730880230 0.00001
NM_003476.5(CSRP3):c.152C>A (p.Ala51Asp) rs397516853 0.00001
NM_003476.5(CSRP3):c.168C>G (p.Ile56Met) rs767360228 0.00001
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg) rs137852764 0.00001
NM_003476.5(CSRP3):c.251C>T (p.Thr84Met) rs777327517 0.00001
NM_003476.5(CSRP3):c.255C>T (p.Gly85=) rs752338221 0.00001
NM_003476.5(CSRP3):c.283T>G (p.Ser95Ala) rs1190724900 0.00001
NM_003476.5(CSRP3):c.284C>T (p.Ser95Phe) rs767477787 0.00001
NM_003476.5(CSRP3):c.29G>A (p.Cys10Tyr) rs141980088 0.00001
NM_003476.5(CSRP3):c.302C>T (p.Ser101Leu) rs746707959 0.00001
NM_003476.5(CSRP3):c.367T>C (p.Cys123Arg) rs1301857786 0.00001
NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter) rs1216811263 0.00001
NM_003476.5(CSRP3):c.40G>C (p.Glu14Gln) rs777883490 0.00001
NM_003476.5(CSRP3):c.415-1G>T rs775194825 0.00001
NM_003476.5(CSRP3):c.576G>C (p.Lys192Asn) rs141100524 0.00001
NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn) rs372717179 0.00001
NM_003480.4(MFAP5):c.300G>A (p.Pro100=) rs1294533558 0.00001
NM_003673.4(TCAP):c.171C>G (p.Cys57Trp) rs369447207 0.00001
NM_003673.4(TCAP):c.194C>T (p.Pro65Leu) rs2057250642 0.00001
NM_003673.4(TCAP):c.202A>T (p.Met68Leu) rs770133993 0.00001
NM_003673.4(TCAP):c.227G>A (p.Arg76His) rs752435787 0.00001
NM_003673.4(TCAP):c.473G>A (p.Arg158His) rs397516864 0.00001
NM_003673.4(TCAP):c.49C>T (p.Arg17Cys) rs869025530 0.00001
NM_003673.4(TCAP):c.52C>T (p.Arg18Trp) rs886038989 0.00001
NM_003673.4(TCAP):c.98G>A (p.Arg33Gln) rs1085307822 0.00001
NM_004006.3(DMD):c.10212C>G (p.Asp3404Glu) rs367657320 0.00001
NM_004006.3(DMD):c.10712G>A (p.Arg3571His) rs935091512 0.00001
NM_004006.3(DMD):c.1150-4T>A rs794727031 0.00001
NM_004006.3(DMD):c.1162G>T (p.Asp388Tyr) rs1454929812 0.00001
NM_004006.3(DMD):c.1712T>C (p.Phe571Ser) rs1326680081 0.00001
NM_004006.3(DMD):c.1734A>T (p.Lys578Asn) rs754347572 0.00001
NM_004006.3(DMD):c.1749C>G (p.Asn583Lys) rs775846754 0.00001
NM_004006.3(DMD):c.1754T>G (p.Ile585Ser) rs376238937 0.00001
NM_004006.3(DMD):c.1907T>C (p.Val636Ala) rs764008354 0.00001
NM_004006.3(DMD):c.2146G>C (p.Val716Leu) rs886043081 0.00001
NM_004006.3(DMD):c.2297T>C (p.Ile766Thr) rs1443021146 0.00001
NM_004006.3(DMD):c.2312C>T (p.Ala771Val) rs1245604423 0.00001
NM_004006.3(DMD):c.2472C>G (p.Asn824Lys) rs778811645 0.00001
NM_004006.3(DMD):c.2473T>G (p.Trp825Gly) rs769988372 0.00001
NM_004006.3(DMD):c.2599A>G (p.Lys867Glu) rs1382610511 0.00001
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg) rs200872948 0.00001
NM_004006.3(DMD):c.2635C>T (p.Arg879Trp) rs1603634614 0.00001
NM_004006.3(DMD):c.2645A>T (p.Asp882Val) rs228406 0.00001
NM_004006.3(DMD):c.2656C>G (p.Gln886Glu) rs754893725 0.00001
NM_004006.3(DMD):c.2764T>G (p.Phe922Val) rs185395584 0.00001
NM_004006.3(DMD):c.2785G>A (p.Glu929Lys) rs772679497 0.00001
NM_004006.3(DMD):c.2972A>G (p.Glu991Gly) rs747374618 0.00001
NM_004006.3(DMD):c.3098C>T (p.Ser1033Phe) rs377415288 0.00001
NM_004006.3(DMD):c.3152G>A (p.Arg1051Gln) rs761715369 0.00001
NM_004006.3(DMD):c.3193G>C (p.Ala1065Pro) rs774756042 0.00001
NM_004006.3(DMD):c.3239A>G (p.Asp1080Gly) rs886043493 0.00001
NM_004006.3(DMD):c.3283G>C (p.Val1095Leu) rs183819382 0.00001
NM_004006.3(DMD):c.3446A>C (p.Lys1149Thr) rs398123940 0.00001
NM_004006.3(DMD):c.3777G>A (p.Lys1259=) rs1445951268 0.00001
NM_004006.3(DMD):c.3848A>G (p.Asn1283Ser) rs778145106 0.00001
NM_004006.3(DMD):c.3982C>G (p.Gln1328Glu) rs745640786 0.00001
NM_004006.3(DMD):c.399A>T (p.Gln133His) rs1358899513 0.00001
NM_004006.3(DMD):c.4040T>A (p.Phe1347Tyr) rs1466636716 0.00001
NM_004006.3(DMD):c.4234-4A>G rs764846703 0.00001
NM_004006.3(DMD):c.4376G>A (p.Arg1459Gln) rs755835144 0.00001
NM_004006.3(DMD):c.4449G>A (p.Met1483Ile) rs765355046 0.00001
NM_004006.3(DMD):c.4510C>T (p.His1504Tyr) rs1469008607 0.00001
NM_004006.3(DMD):c.4628A>G (p.Glu1543Gly) rs746681404 0.00001
NM_004006.3(DMD):c.5074A>G (p.Thr1692Ala) rs367674503 0.00001
NM_004006.3(DMD):c.5123A>G (p.Lys1708Arg) rs775302077 0.00001
NM_004006.3(DMD):c.5156G>A (p.Arg1719His) rs1273883368 0.00001
NM_004006.3(DMD):c.5183G>A (p.Arg1728His) rs780599147 0.00001
NM_004006.3(DMD):c.5531G>A (p.Arg1844Gln) rs751221923 0.00001
NM_004006.3(DMD):c.554G>A (p.Ser185Asn) rs1168876204 0.00001
NM_004006.3(DMD):c.602A>T (p.Asn201Ile) rs1030277417 0.00001
NM_004006.3(DMD):c.6200C>T (p.Thr2067Met) rs1405599353 0.00001
NM_004006.3(DMD):c.657T>A (p.Asp219Glu) rs771312947 0.00001
NM_004006.3(DMD):c.6614+4G>A rs1475894426 0.00001
NM_004006.3(DMD):c.6623A>G (p.Glu2208Gly) rs139937177 0.00001
NM_004006.3(DMD):c.6632A>G (p.Asn2211Ser) rs900089672 0.00001
NM_004006.3(DMD):c.682A>G (p.Ile228Val) rs904314683 0.00001
NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr) rs747055774 0.00001
NM_004006.3(DMD):c.694A>C (p.Ile232Leu) rs758447768 0.00001
NM_004006.3(DMD):c.7150T>C (p.Ser2384Pro) rs1351313240 0.00001
NM_004006.3(DMD):c.7273C>T (p.Pro2425Ser) rs1318139017 0.00001
NM_004006.3(DMD):c.7499T>C (p.Val2500Ala) rs867197764 0.00001
NM_004006.3(DMD):c.74T>C (p.Val25Ala) rs886039061 0.00001
NM_004006.3(DMD):c.769C>T (p.Pro257Ser) rs1305908922 0.00001
NM_004006.3(DMD):c.7853A>G (p.Lys2618Arg) rs972664841 0.00001
NM_004006.3(DMD):c.7981A>G (p.Met2661Val) rs764521635 0.00001
NM_004006.3(DMD):c.8000A>G (p.Asn2667Ser) rs371437381 0.00001
NM_004006.3(DMD):c.80C>T (p.Ala27Val) rs763407275 0.00001
NM_004006.3(DMD):c.836C>T (p.Thr279Met) rs369135184 0.00001
NM_004006.3(DMD):c.8509G>A (p.Asp2837Asn) rs965718917 0.00001
NM_004006.3(DMD):c.8605G>C (p.Val2869Leu) rs2068037888 0.00001
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln) rs754308757 0.00001
NM_004006.3(DMD):c.8745G>T (p.Trp2915Cys) rs761750882 0.00001
NM_004006.3(DMD):c.8858C>A (p.Ala2953Asp) rs773941387 0.00001
NM_004006.3(DMD):c.8885C>T (p.Pro2962Leu) rs151087470 0.00001
NM_004006.3(DMD):c.8887G>A (p.Val2963Met) rs756567967 0.00001
NM_004006.3(DMD):c.8996C>T (p.Ala2999Val) rs762577093 0.00001
NM_004006.3(DMD):c.9478C>T (p.Arg3160Cys) rs779233737 0.00001
NM_004006.3(DMD):c.9931G>A (p.Ala3311Thr) rs1348920866 0.00001
NM_004100.5(EYA4):c.1066C>G (p.Arg356Gly) rs776882781 0.00001
NM_004100.5(EYA4):c.1078C>A (p.Pro360Thr) rs765773822 0.00001
NM_004100.5(EYA4):c.1109G>A (p.Arg370His) rs143936434 0.00001
NM_004100.5(EYA4):c.1222C>T (p.Arg408Cys) rs775741050 0.00001
NM_004100.5(EYA4):c.1253A>G (p.Asp418Gly) rs1363400539 0.00001
NM_004100.5(EYA4):c.1294G>C (p.Val432Leu) rs145253833 0.00001
NM_004100.5(EYA4):c.1434G>T (p.Met478Ile) rs1187396214 0.00001
NM_004100.5(EYA4):c.1624T>G (p.Cys542Gly) rs1429034123 0.00001
NM_004100.5(EYA4):c.1893C>G (p.His631Gln) rs769828566 0.00001
NM_004100.5(EYA4):c.271G>T (p.Ala91Ser) rs1356492542 0.00001
NM_004100.5(EYA4):c.2T>C (p.Met1Thr) rs200593099 0.00001
NM_004100.5(EYA4):c.349C>T (p.Leu117Phe) rs1044216762 0.00001
NM_004100.5(EYA4):c.407A>G (p.His136Arg) rs751662203 0.00001
NM_004100.5(EYA4):c.478A>G (p.Met160Val) rs1268878098 0.00001
NM_004100.5(EYA4):c.509C>T (p.Ser170Leu) rs184768806 0.00001
NM_004100.5(EYA4):c.557A>G (p.Gln186Arg) rs767996783 0.00001
NM_004100.5(EYA4):c.601G>A (p.Ala201Thr) rs765515937 0.00001
NM_004100.5(EYA4):c.668G>C (p.Ser223Thr) rs1468256328 0.00001
NM_004100.5(EYA4):c.683C>T (p.Thr228Ile) rs747533734 0.00001
NM_004100.5(EYA4):c.707A>G (p.Tyr236Cys) rs1060502993 0.00001
NM_004100.5(EYA4):c.790A>G (p.Ser264Gly) rs1392356186 0.00001
NM_004100.5(EYA4):c.89T>A (p.Met30Lys) rs1554259054 0.00001
NM_004100.5(EYA4):c.901G>A (p.Asp301Asn) rs779172192 0.00001
NM_004281.4(BAG3):c.1027C>T (p.Arg343Cys) rs768613403 0.00001
NM_004281.4(BAG3):c.1035G>C (p.Glu345Asp) rs1057522401 0.00001
NM_004281.4(BAG3):c.1118G>A (p.Cys373Tyr) rs876657745 0.00001
NM_004281.4(BAG3):c.1217C>T (p.Thr406Ile) rs727502900 0.00001
NM_004281.4(BAG3):c.1288G>A (p.Glu430Lys) rs774713887 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.1582G>C (p.Gly528Arg) rs752007619 0.00001
NM_004281.4(BAG3):c.1624G>T (p.Ala542Ser) rs760485616 0.00001
NM_004281.4(BAG3):c.1628_1633del (p.Glu543_Pro545delinsAla) rs1847251591 0.00001
NM_004281.4(BAG3):c.1651C>A (p.Gln551Lys) rs577455773 0.00001
NM_004281.4(BAG3):c.1702A>G (p.Thr568Ala) rs1407009048 0.00001
NM_004281.4(BAG3):c.307G>A (p.Ala103Thr) rs774085716 0.00001
NM_004281.4(BAG3):c.315C>G (p.Asn105Lys) rs566015884 0.00001
NM_004281.4(BAG3):c.325C>T (p.His109Tyr) rs753302310 0.00001
NM_004281.4(BAG3):c.337G>A (p.Val113Ile) rs781093275 0.00001
NM_004281.4(BAG3):c.362G>A (p.Arg121Gln) rs876657746 0.00001
NM_004281.4(BAG3):c.368G>A (p.Arg123Gln) rs199991063 0.00001
NM_004281.4(BAG3):c.418G>A (p.Gly140Ser) rs780169403 0.00001
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr) rs770678896 0.00001
NM_004281.4(BAG3):c.460G>C (p.Val154Leu) rs376198104 0.00001
NM_004281.4(BAG3):c.46A>G (p.Asn16Asp) rs1474784659 0.00001
NM_004281.4(BAG3):c.542C>T (p.Ser181Phe) rs1482925321 0.00001
NM_004281.4(BAG3):c.557C>T (p.Ala186Val) rs766766600 0.00001
NM_004281.4(BAG3):c.607C>T (p.Arg203Trp) rs1047671466 0.00001
NM_004281.4(BAG3):c.67C>T (p.Pro23Ser) rs747846089 0.00001
NM_004281.4(BAG3):c.836C>T (p.Ser279Leu) rs751261054 0.00001
NM_004281.4(BAG3):c.844A>G (p.Arg282Gly) rs1847167969 0.00001
NM_004281.4(BAG3):c.881G>A (p.Arg294His) rs151335530 0.00001
NM_004281.4(BAG3):c.88A>G (p.Ile30Val) rs766796091 0.00001
NM_004281.4(BAG3):c.909+4C>T rs376351857 0.00001
NM_004281.4(BAG3):c.910-2A>C rs762944997 0.00001
NM_004281.4(BAG3):c.947A>G (p.Gln316Arg) rs1246603543 0.00001
NM_004281.4(BAG3):c.957C>G (p.Asn319Lys) rs767223665 0.00001
NM_004333.6(BRAF):c.112G>C (p.Ala38Pro) rs1011563467 0.00001
NM_004333.6(BRAF):c.229A>G (p.Ile77Val) rs764408896 0.00001
NM_004333.6(BRAF):c.26G>C (p.Gly9Ala) rs1211436028 0.00001
NM_004333.6(BRAF):c.58A>G (p.Asn20Asp) rs1321934224 0.00001
NM_004387.4(NKX2-5):c.173G>T (p.Gly58Val) rs1012750146 0.00001
NM_004387.4(NKX2-5):c.284G>T (p.Arg95Leu) rs763729448 0.00001
NM_004387.4(NKX2-5):c.395G>C (p.Arg132Pro) rs754394393 0.00001
NM_004387.4(NKX2-5):c.448G>A (p.Val150Ile) rs201582515 0.00001
NM_004387.4(NKX2-5):c.466C>T (p.Arg156Cys) rs1310163851 0.00001
NM_004387.4(NKX2-5):c.553T>C (p.Trp185Arg) rs1761355968 0.00001
NM_004387.4(NKX2-5):c.655G>A (p.Ala219Thr) rs760305842 0.00001
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902 0.00001
NM_004387.4(NKX2-5):c.695G>C (p.Gly232Ala) rs759339072 0.00001
NM_004387.4(NKX2-5):c.842C>A (p.Ala281Glu) rs1206339157 0.00001
NM_004387.4(NKX2-5):c.869A>G (p.Asn290Ser) rs936204422 0.00001
NM_004387.4(NKX2-5):c.956A>G (p.His319Arg) rs1196710127 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.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.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.1468C>T (p.Arg490Cys) rs781084693 0.00001
NM_004415.4(DSP):c.146C>G (p.Thr49Ser) rs151153655 0.00001
NM_004415.4(DSP):c.1502T>C (p.Val501Ala) rs544017143 0.00001
NM_004415.4(DSP):c.1564C>G (p.Leu522Val) rs1230995902 0.00001
NM_004415.4(DSP):c.1568C>T (p.Ser523Phe) rs1276338018 0.00001
NM_004415.4(DSP):c.1582C>G (p.Gln528Glu) rs1267435790 0.00001
NM_004415.4(DSP):c.1671A>G (p.Ile557Met) rs766505506 0.00001
NM_004415.4(DSP):c.171-4T>C rs1554105598 0.00001
NM_004415.4(DSP):c.1715G>A (p.Arg572Gln) rs370531666 0.00001
NM_004415.4(DSP):c.182C>T (p.Thr61Met) rs200250096 0.00001
NM_004415.4(DSP):c.1901C>G (p.Thr634Arg) rs139964486 0.00001
NM_004415.4(DSP):c.1973A>G (p.Asn658Ser) rs749183448 0.00001
NM_004415.4(DSP):c.197A>T (p.Gln66Leu) rs794728152 0.00001
NM_004415.4(DSP):c.2030G>A (p.Arg677Lys) rs749238502 0.00001
NM_004415.4(DSP):c.2081C>T (p.Ala694Val) rs543446763 0.00001
NM_004415.4(DSP):c.2194A>G (p.Asn732Asp) rs746785505 0.00001
NM_004415.4(DSP):c.2246T>C (p.Leu749Pro) rs935504136 0.00001
NM_004415.4(DSP):c.2260G>A (p.Glu754Lys) rs730880080 0.00001
NM_004415.4(DSP):c.2377G>A (p.Glu793Lys) rs755067397 0.00001
NM_004415.4(DSP):c.2415A>C (p.Glu805Asp) rs1554107530 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.2597G>A (p.Arg866His) rs764965132 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.2689G>C (p.Ala897Pro) rs1008407158 0.00001
NM_004415.4(DSP):c.26C>A (p.Pro9Gln) rs1303669220 0.00001
NM_004415.4(DSP):c.2728G>A (p.Asp910Asn) rs775080138 0.00001
NM_004415.4(DSP):c.2822G>A (p.Arg941Gln) rs759869347 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.2924T>C (p.Leu975Pro) rs1473895931 0.00001
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys) rs1060500615 0.00001
NM_004415.4(DSP):c.2959T>A (p.Ser987Thr) rs397516929 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.3004C>T (p.Arg1002Trp) rs772551736 0.00001
NM_004415.4(DSP):c.3025A>G (p.Arg1009Gly) rs1413346143 0.00001
NM_004415.4(DSP):c.3059T>C (p.Met1020Thr) rs773331618 0.00001
NM_004415.4(DSP):c.3084G>A (p.Lys1028=) rs964949139 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.3323A>G (p.Asn1108Ser) rs771948271 0.00001
NM_004415.4(DSP):c.3343A>G (p.Thr1115Ala) rs761524542 0.00001
NM_004415.4(DSP):c.340G>A (p.Ala114Thr) rs751745906 0.00001
NM_004415.4(DSP):c.3550C>T (p.Arg1184Trp) rs761331634 0.00001
NM_004415.4(DSP):c.3605A>T (p.Glu1202Val) rs374266534 0.00001
NM_004415.4(DSP):c.3644A>G (p.Asn1215Ser) rs777375223 0.00001
NM_004415.4(DSP):c.364G>A (p.Asp122Asn) rs756013600 0.00001
NM_004415.4(DSP):c.3740G>A (p.Arg1247Gln) rs867067755 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.3820G>A (p.Ala1274Thr) rs1285435504 0.00001
NM_004415.4(DSP):c.385C>T (p.Arg129Trp) rs777763456 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.4103C>T (p.Thr1368Ile) rs530481219 0.00001
NM_004415.4(DSP):c.4274G>A (p.Arg1425Lys) rs577560157 0.00001
NM_004415.4(DSP):c.4312T>C (p.Ser1438Pro) rs1561698695 0.00001
NM_004415.4(DSP):c.431A>C (p.Gln144Pro) rs768178768 0.00001
NM_004415.4(DSP):c.4405C>T (p.Leu1469Phe) rs752121953 0.00001
NM_004415.4(DSP):c.4433A>G (p.Asp1478Gly) rs767339003 0.00001
NM_004415.4(DSP):c.4513G>A (p.Ala1505Thr) rs1488770025 0.00001
NM_004415.4(DSP):c.4666A>G (p.Ile1556Val) rs530647574 0.00001
NM_004415.4(DSP):c.4735C>T (p.Arg1579Trp) rs755868373 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.4961T>C (p.Leu1654Pro) rs749730642 0.00001
NM_004415.4(DSP):c.5062G>A (p.Ala1688Thr) rs757753880 0.00001
NM_004415.4(DSP):c.50T>G (p.Met17Arg) rs559248100 0.00001
NM_004415.4(DSP):c.5120A>T (p.Gln1707Leu) rs768870428 0.00001
NM_004415.4(DSP):c.5153T>C (p.Leu1718Ser) rs1278859783 0.00001
NM_004415.4(DSP):c.5261G>A (p.Ser1754Asn) rs763526083 0.00001
NM_004415.4(DSP):c.5572C>G (p.Gln1858Glu) rs1474132784 0.00001
NM_004415.4(DSP):c.5611T>G (p.Tyr1871Asp) rs374844169 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.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.582G>T (p.Trp194Cys) rs1345570966 0.00001
NM_004415.4(DSP):c.5834G>A (p.Arg1945His) rs759516161 0.00001
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile) rs368869076 0.00001
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro) rs397516950 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.6112A>C (p.Lys2038Gln) rs185846631 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.6332T>C (p.Ile2111Thr) rs370865499 0.00001
NM_004415.4(DSP):c.6346A>G (p.Ile2116Val) rs777184414 0.00001
NM_004415.4(DSP):c.6367C>T (p.Arg2123Cys) rs372242085 0.00001
NM_004415.4(DSP):c.6415A>G (p.Asn2139Asp) rs762434061 0.00001
NM_004415.4(DSP):c.6455G>T (p.Gly2152Val) rs1040120840 0.00001
NM_004415.4(DSP):c.6587C>T (p.Thr2196Ile) rs958098310 0.00001
NM_004415.4(DSP):c.6592C>G (p.Leu2198Val) rs752057967 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.6902T>C (p.Ile2301Thr) rs772381363 0.00001
NM_004415.4(DSP):c.692A>G (p.Tyr231Cys) rs770210088 0.00001
NM_004415.4(DSP):c.6968T>C (p.Ile2323Thr) rs777901747 0.00001
NM_004415.4(DSP):c.7396G>A (p.Val2466Met) rs745862520 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.7534G>T (p.Asp2512Tyr) rs772574987 0.00001
NM_004415.4(DSP):c.7702G>A (p.Gly2568Ser) rs139486943 0.00001
NM_004415.4(DSP):c.7745T>G (p.Phe2582Cys) rs751712837 0.00001
NM_004415.4(DSP):c.7778T>G (p.Ile2593Ser) rs563272509 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.7876G>C (p.Glu2626Gln) rs144821643 0.00001
NM_004415.4(DSP):c.7918G>T (p.Gly2640Cys) rs770390645 0.00001
NM_004415.4(DSP):c.794G>A (p.Arg265Lys) rs1064796438 0.00001
NM_004415.4(DSP):c.7990A>G (p.Thr2664Ala) rs1260154229 0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106 0.00001
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu) rs1064793890 0.00001
NM_004415.4(DSP):c.8015A>C (p.Gln2672Pro) rs1060500612 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.8123C>T (p.Ser2708Leu) rs1194266904 0.00001
NM_004415.4(DSP):c.8133G>T (p.Glu2711Asp) rs375348086 0.00001
NM_004415.4(DSP):c.8137G>A (p.Val2713Met) rs1219478425 0.00001
NM_004415.4(DSP):c.8152C>A (p.Leu2718Ile) rs727504569 0.00001
NM_004415.4(DSP):c.8197A>T (p.Thr2733Ser) rs1157650702 0.00001
NM_004415.4(DSP):c.8216C>T (p.Pro2739Leu) rs761527198 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.8404C>T (p.Leu2802Phe) rs201271117 0.00001
NM_004415.4(DSP):c.8476C>T (p.Arg2826Cys) rs139969658 0.00001
NM_004415.4(DSP):c.8477G>A (p.Arg2826His) rs548754771 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_004588.5(SCN2B):c.237G>C (p.Met79Ile) rs142643516 0.00001
NM_004588.5(SCN2B):c.251G>A (p.Arg84His) rs201460753 0.00001
NM_004982.4(KCNJ8):c.1054C>T (p.Arg352Trp) rs556299317 0.00001
NM_004982.4(KCNJ8):c.1145A>G (p.Lys382Arg) rs752063865 0.00001
NM_004982.4(KCNJ8):c.1166A>G (p.Asn389Ser) rs368674776 0.00001
NM_004982.4(KCNJ8):c.352A>G (p.Thr118Ala) rs761526890 0.00001
NM_004982.4(KCNJ8):c.676C>T (p.Arg226Cys) rs763650307 0.00001
NM_004982.4(KCNJ8):c.6G>T (p.Leu2Phe) rs886038917 0.00001
NM_005120.3(MED12):c.701A>T (p.Asp234Val) rs927746681 0.00001
NM_005159.5(ACTC1):c.1085A>C (p.Gln362Pro) rs375435815 0.00001
NM_005159.5(ACTC1):c.129G>A (p.Gln43=) rs878854753 0.00001
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys) rs727505179 0.00001
NM_005159.5(ACTC1):c.886T>C (p.Tyr296His) rs730880402 0.00001
NM_005188.4(CBL):c.1849C>T (p.Arg617Trp) rs538013681 0.00001
NM_005188.4(CBL):c.2012A>G (p.Asn671Ser) rs760168148 0.00001
NM_005188.4(CBL):c.203G>A (p.Arg68Gln) rs901321242 0.00001
NM_005188.4(CBL):c.2053A>G (p.Lys685Glu) rs1555027603 0.00001
NM_005188.4(CBL):c.2062C>T (p.Pro688Ser) rs730880428 0.00001
NM_005188.4(CBL):c.2086G>A (p.Glu696Lys) rs539217274 0.00001
NM_005188.4(CBL):c.23G>A (p.Ser8Asn) rs930860175 0.00001
NM_005188.4(CBL):c.2432C>T (p.Thr811Ile) rs749068285 0.00001
NM_005188.4(CBL):c.469A>G (p.Ile157Val) rs730880430 0.00001
NM_005343.4(HRAS):c.398T>A (p.Leu133His) rs766801436 0.00001
NM_005343.4(HRAS):c.410A>C (p.Tyr137Ser) rs1180561549 0.00001
NM_005472.5(KCNE3):c.194T>C (p.Met65Thr) rs1485350191 0.00001
NM_005477.3(HCN4):c.1073T>C (p.Ile358Thr) rs774060688 0.00001
NM_005477.3(HCN4):c.1132C>T (p.Arg378Cys) rs758468167 0.00001
NM_005477.3(HCN4):c.124G>C (p.Asp42His) rs752597565 0.00001
NM_005477.3(HCN4):c.128C>T (p.Pro43Leu) rs759329385 0.00001
NM_005477.3(HCN4):c.1297G>A (p.Gly433Ser) rs573588965 0.00001
NM_005477.3(HCN4):c.1331A>T (p.Asp444Val) rs1444329166 0.00001
NM_005477.3(HCN4):c.1402G>A (p.Ala468Thr) rs372632530 0.00001
NM_005477.3(HCN4):c.1403C>T (p.Ala468Val) rs760413254 0.00001
NM_005477.3(HCN4):c.1447C>T (p.Arg483Trp) rs1304145729 0.00001
NM_005477.3(HCN4):c.152G>A (p.Arg51Gln) rs1425211418 0.00001
NM_005477.3(HCN4):c.1576C>G (p.Gln526Glu) rs1474216387 0.00001
NM_005477.3(HCN4):c.1661A>G (p.Tyr554Cys) rs767926374 0.00001
NM_005477.3(HCN4):c.1693G>A (p.Asp565Asn) rs201811340 0.00001
NM_005477.3(HCN4):c.1748A>G (p.Asn583Ser) rs1204195890 0.00001
NM_005477.3(HCN4):c.1760G>A (p.Arg587Gln) rs761600737 0.00001
NM_005477.3(HCN4):c.1896G>A (p.Met632Ile) rs200737571 0.00001
NM_005477.3(HCN4):c.202C>G (p.Arg68Gly) rs962306052 0.00001
NM_005477.3(HCN4):c.2092A>G (p.Met698Val) rs1181444062 0.00001
NM_005477.3(HCN4):c.2182G>A (p.Asp728Asn) rs200468312 0.00001
NM_005477.3(HCN4):c.2198T>C (p.Val733Ala) rs1482088586 0.00001
NM_005477.3(HCN4):c.2267C>T (p.Ala756Val) rs745617328 0.00001
NM_005477.3(HCN4):c.2273G>A (p.Arg758His) rs373284500 0.00001
NM_005477.3(HCN4):c.2326C>A (p.Pro776Thr) rs148714049 0.00001
NM_005477.3(HCN4):c.2327C>T (p.Pro776Leu) rs1008825259 0.00001
NM_005477.3(HCN4):c.2356G>A (p.Ala786Thr) rs771516987 0.00001
NM_005477.3(HCN4):c.2452G>A (p.Gly818Ser) rs1427767002 0.00001
NM_005477.3(HCN4):c.245G>A (p.Arg82His) rs1170776732 0.00001
NM_005477.3(HCN4):c.2495T>C (p.Leu832Pro) rs1404692878 0.00001
NM_005477.3(HCN4):c.2716G>A (p.Gly906Arg) rs373572497 0.00001
NM_005477.3(HCN4):c.2738C>T (p.Ala913Val) rs777560053 0.00001
NM_005477.3(HCN4):c.2786T>C (p.Leu929Pro) rs753331607 0.00001
NM_005477.3(HCN4):c.2828C>A (p.Pro943His) rs1455977664 0.00001
NM_005477.3(HCN4):c.2939G>C (p.Gly980Ala) rs367719274 0.00001
NM_005477.3(HCN4):c.3011C>T (p.Pro1004Leu) rs1486893598 0.00001
NM_005477.3(HCN4):c.3028G>T (p.Ala1010Ser) rs748634893 0.00001
NM_005477.3(HCN4):c.3031T>C (p.Ser1011Pro) rs890395300 0.00001
NM_005477.3(HCN4):c.3044C>G (p.Ser1015Cys) rs750605160 0.00001
NM_005477.3(HCN4):c.3071G>T (p.Gly1024Val) rs775491475 0.00001
NM_005477.3(HCN4):c.3166C>A (p.Pro1056Thr) rs1022382647 0.00001
NM_005477.3(HCN4):c.3169_3189dup (p.Ala1057_Pro1063dup) rs1486632648 0.00001
NM_005477.3(HCN4):c.3172T>G (p.Ser1058Ala) rs1064796786 0.00001
NM_005477.3(HCN4):c.3205C>T (p.Arg1069Trp) rs770658894 0.00001
NM_005477.3(HCN4):c.3206G>A (p.Arg1069Gln) rs760242560 0.00001
NM_005477.3(HCN4):c.3289G>A (p.Gly1097Arg) rs753734843 0.00001
NM_005477.3(HCN4):c.3304C>T (p.Arg1102Cys) rs760392343 0.00001
NM_005477.3(HCN4):c.331G>A (p.Gly111Ser) rs758437800 0.00001
NM_005477.3(HCN4):c.3363G>C (p.Arg1121Ser) rs794727919 0.00001
NM_005477.3(HCN4):c.3382G>A (p.Gly1128Ser) rs779132775 0.00001
NM_005477.3(HCN4):c.3412C>G (p.Pro1138Ala) rs915209025 0.00001
NM_005477.3(HCN4):c.3487C>A (p.Pro1163Thr) rs779811451 0.00001
NM_005477.3(HCN4):c.3526G>C (p.Gly1176Arg) rs1060500104 0.00001
NM_005477.3(HCN4):c.433C>G (p.Pro145Ala) rs886043525 0.00001
NM_005477.3(HCN4):c.550G>A (p.Val184Met) rs1450435726 0.00001
NM_005477.3(HCN4):c.595C>A (p.Gln199Lys) rs1055534495 0.00001
NM_005477.3(HCN4):c.697A>T (p.Met233Leu) rs749389306 0.00001
NM_005477.3(HCN4):c.6C>G (p.Asp2Glu) rs1230881569 0.00001
NM_005477.3(HCN4):c.743A>G (p.Lys248Arg) rs191744064 0.00001
NM_005477.3(HCN4):c.915C>A (p.Phe305Leu) rs1272107414 0.00001
NM_005477.3(HCN4):c.91G>A (p.Asp31Asn) rs757500423 0.00001
NM_005477.3(HCN4):c.975G>T (p.Glu325Asp) rs778657724 0.00001
NM_005477.3(HCN4):c.988C>A (p.Pro330Thr) rs1555477316 0.00001
NM_005477.3(HCN4):c.989C>T (p.Pro330Leu) rs370442588 0.00001
NM_005477.3(HCN4):c.994C>T (p.Arg332Trp) rs141185786 0.00001
NM_005502.4(ABCA1):c.2301G>T (p.Trp767Cys) rs780611537 0.00001
NM_005502.4(ABCA1):c.4102G>A (p.Val1368Met) rs778275370 0.00001
NM_005633.4(SOS1):c.1202+3G>A rs904487658 0.00001
NM_005633.4(SOS1):c.1271A>G (p.Glu424Gly) rs730881042 0.00001
NM_005633.4(SOS1):c.127G>C (p.Asp43His) rs730881052 0.00001
NM_005633.4(SOS1):c.1303A>G (p.Lys435Glu) rs138920742 0.00001
NM_005633.4(SOS1):c.1385T>A (p.Phe462Tyr) rs730881043 0.00001
NM_005633.4(SOS1):c.143T>C (p.Val48Ala) rs373898570 0.00001
NM_005633.4(SOS1):c.1574T>C (p.Ile525Thr) rs146722878 0.00001
NM_005633.4(SOS1):c.1627T>C (p.Ser543Pro) rs981234810 0.00001
NM_005633.4(SOS1):c.1983A>G (p.Ile661Met) rs747203627 0.00001
NM_005633.4(SOS1):c.2089G>T (p.Val697Leu) rs966388444 0.00001
NM_005633.4(SOS1):c.2097C>A (p.His699Gln) rs765074047 0.00001
NM_005633.4(SOS1):c.2158A>G (p.Thr720Ala) rs367634525 0.00001
NM_005633.4(SOS1):c.2227G>C (p.Ala743Pro) rs759584440 0.00001
NM_005633.4(SOS1):c.2684G>A (p.Ser895Asn) rs1164976822 0.00001
NM_005633.4(SOS1):c.2728G>C (p.Asp910His) rs369277679 0.00001
NM_005633.4(SOS1):c.2999G>A (p.Ser1000Asn) rs891035934 0.00001
NM_005633.4(SOS1):c.3274G>A (p.Ala1092Thr) rs373948887 0.00001
NM_005633.4(SOS1):c.3391+3T>C rs761579423 0.00001
NM_005633.4(SOS1):c.350T>G (p.Val117Gly) rs201085754 0.00001
NM_005633.4(SOS1):c.3524A>C (p.His1175Pro) rs730881035 0.00001
NM_005633.4(SOS1):c.3602G>A (p.Arg1201Gln) rs1422169849 0.00001
NM_005633.4(SOS1):c.3721A>G (p.Lys1241Glu) rs367693130 0.00001
NM_005633.4(SOS1):c.464A>G (p.Tyr155Cys) rs1188280924 0.00001
NM_005633.4(SOS1):c.473C>T (p.Thr158Ile) rs776744951 0.00001
NM_005633.4(SOS1):c.560C>A (p.Ser187Tyr) rs730881038 0.00001
NM_005633.4(SOS1):c.688T>G (p.Phe230Val) rs397517177 0.00001
NM_005633.4(SOS1):c.864+3A>G rs201119821 0.00001
NM_005633.4(SOS1):c.865-4T>C rs750788947 0.00001
NM_005633.4(SOS1):c.928C>T (p.Arg310Cys) rs867539471 0.00001
NM_005633.4(SOS1):c.985G>A (p.Glu329Lys) rs756679265 0.00001
NM_005751.5(AKAP9):c.10315A>G (p.Ile3439Val) rs1040204302 0.00001
NM_005751.5(AKAP9):c.10332G>T (p.Gln3444His) rs981017281 0.00001
NM_005751.5(AKAP9):c.10591C>G (p.Gln3531Glu) rs767137372 0.00001
NM_005751.5(AKAP9):c.10641C>A (p.Phe3547Leu) rs528888059 0.00001
NM_005751.5(AKAP9):c.10774A>C (p.Asn3592His) rs751653287 0.00001
NM_005751.5(AKAP9):c.10818G>T (p.Lys3606Asn) rs1052036778 0.00001
NM_005751.5(AKAP9):c.10871G>A (p.Arg3624Gln) rs377561989 0.00001
NM_005751.5(AKAP9):c.11272C>T (p.Arg3758Cys) rs779901993 0.00001
NM_005751.5(AKAP9):c.11317A>G (p.Ile3773Val) rs746874048 0.00001
NM_005751.5(AKAP9):c.11323A>G (p.Ile3775Val) rs910995516 0.00001
NM_005751.5(AKAP9):c.11342T>C (p.Leu3781Ser) rs779122050 0.00001
NM_005751.5(AKAP9):c.11378C>G (p.Ser3793Cys) rs730880044 0.00001
NM_005751.5(AKAP9):c.11518A>G (p.Ile3840Val) rs1175318913 0.00001
NM_005751.5(AKAP9):c.1183A>G (p.Lys395Glu) rs886062467 0.00001
NM_005751.5(AKAP9):c.1457A>T (p.Asp486Val) rs748637545 0.00001
NM_005751.5(AKAP9):c.1583G>A (p.Arg528Lys) rs1252942288 0.00001
NM_005751.5(AKAP9):c.1625A>G (p.Glu542Gly) rs1283390674 0.00001
NM_005751.5(AKAP9):c.1984C>T (p.His662Tyr) rs749315335 0.00001
NM_005751.5(AKAP9):c.217G>T (p.Val73Leu) rs887210886 0.00001
NM_005751.5(AKAP9):c.2312C>A (p.Ala771Glu) rs1259922164 0.00001
NM_005751.5(AKAP9):c.2363A>C (p.Glu788Ala) rs372076987 0.00001
NM_005751.5(AKAP9):c.2368A>G (p.Met790Val) rs776190475 0.00001
NM_005751.5(AKAP9):c.2578A>G (p.Asn860Asp) rs754943177 0.00001
NM_005751.5(AKAP9):c.257C>G (p.Thr86Ser) rs768859701 0.00001
NM_005751.5(AKAP9):c.2997C>G (p.Ile999Met) rs1425297084 0.00001
NM_005751.5(AKAP9):c.3055T>G (p.Leu1019Val) rs769686940 0.00001
NM_005751.5(AKAP9):c.3349C>T (p.Arg1117Cys) rs1277410775 0.00001
NM_005751.5(AKAP9):c.3544A>G (p.Lys1182Glu) rs1801192661 0.00001
NM_005751.5(AKAP9):c.3955G>A (p.Val1319Ile) rs1351358009 0.00001
NM_005751.5(AKAP9):c.4142C>T (p.Pro1381Leu) rs148726562 0.00001
NM_005751.5(AKAP9):c.4149-4T>C rs565975524 0.00001
NM_005751.5(AKAP9):c.4156G>T (p.Val1386Phe) rs762293635 0.00001
NM_005751.5(AKAP9):c.4184A>C (p.Asp1395Ala) rs774408420 0.00001
NM_005751.5(AKAP9):c.4396G>A (p.Gly1466Arg) rs376262014 0.00001
NM_005751.5(AKAP9):c.4628A>T (p.Asp1543Val) rs1554426900 0.00001
NM_005751.5(AKAP9):c.4765G>A (p.Asp1589Asn) rs371957004 0.00001
NM_005751.5(AKAP9):c.4814C>T (p.Thr1605Met) rs777627168 0.00001
NM_005751.5(AKAP9):c.4832C>T (p.Ala1611Val) rs1430748591 0.00001
NM_005751.5(AKAP9):c.4945G>A (p.Val1649Ile) rs756966573 0.00001
NM_005751.5(AKAP9):c.506A>G (p.His169Arg) rs1562947323 0.00001
NM_005751.5(AKAP9):c.5080G>A (p.Glu1694Lys) rs776780461 0.00001
NM_005751.5(AKAP9):c.5183A>G (p.Asn1728Ser) rs1400302163 0.00001
NM_005751.5(AKAP9):c.5227G>A (p.Ala1743Thr) rs769653270 0.00001
NM_005751.5(AKAP9):c.5351A>G (p.His1784Arg) rs1193122767 0.00001
NM_005751.5(AKAP9):c.5449G>A (p.Glu1817Lys) rs575158854 0.00001
NM_005751.5(AKAP9):c.5467C>G (p.Gln1823Glu) rs1376036983 0.00001
NM_005751.5(AKAP9):c.5505A>G (p.Ile1835Met) rs1057521238 0.00001
NM_005751.5(AKAP9):c.5636T>C (p.Met1879Thr) rs776979647 0.00001
NM_005751.5(AKAP9):c.5771T>C (p.Ile1924Thr) rs1217996637 0.00001
NM_005751.5(AKAP9):c.5825C>A (p.Thr1942Asn) rs768512576 0.00001
NM_005751.5(AKAP9):c.5830A>G (p.Ile1944Val) rs587780849 0.00001
NM_005751.5(AKAP9):c.5840G>A (p.Arg1947His) rs762609050 0.00001
NM_005751.5(AKAP9):c.5870A>G (p.Asn1957Ser) rs767966419 0.00001
NM_005751.5(AKAP9):c.5911G>A (p.Glu1971Lys) rs886038914 0.00001
NM_005751.5(AKAP9):c.5933G>T (p.Arg1978Ile) rs1274983523 0.00001
NM_005751.5(AKAP9):c.6113T>C (p.Ile2038Thr) rs776217591 0.00001
NM_005751.5(AKAP9):c.6343G>T (p.Ala2115Ser) rs761921630 0.00001
NM_005751.5(AKAP9):c.6386T>G (p.Leu2129Trp) rs759474634 0.00001
NM_005751.5(AKAP9):c.6536T>C (p.Val2179Ala) rs1060503580 0.00001
NM_005751.5(AKAP9):c.6895G>C (p.Glu2299Gln) rs1198428381 0.00001
NM_005751.5(AKAP9):c.7555T>C (p.Tyr2519His) rs752977579 0.00001
NM_005751.5(AKAP9):c.7741C>T (p.Pro2581Ser) rs372955225 0.00001
NM_005751.5(AKAP9):c.7783G>T (p.Asp2595Tyr) rs754949903 0.00001
NM_005751.5(AKAP9):c.7915A>G (p.Lys2639Glu) rs1426533488 0.00001
NM_005751.5(AKAP9):c.7933G>C (p.Glu2645Gln) rs1407994937 0.00001
NM_005751.5(AKAP9):c.8019+5G>C rs779652992 0.00001
NM_005751.5(AKAP9):c.8020-5T>C rs375175124 0.00001
NM_005751.5(AKAP9):c.8404G>T (p.Ala2802Ser) rs1469597087 0.00001
NM_005751.5(AKAP9):c.8431G>A (p.Glu2811Lys) rs868546210 0.00001
NM_005751.5(AKAP9):c.8495A>G (p.Gln2832Arg) rs775741227 0.00001
NM_005751.5(AKAP9):c.9053G>A (p.Ser3018Asn) rs1372778218 0.00001
NM_005751.5(AKAP9):c.9173T>C (p.Val3058Ala) rs1214206783 0.00001
NM_005751.5(AKAP9):c.9329G>A (p.Arg3110Lys) rs769098388 0.00001
NM_005751.5(AKAP9):c.9349C>A (p.Pro3117Thr) rs769119204 0.00001
NM_005751.5(AKAP9):c.9468T>G (p.Ser3156=) rs759583976 0.00001
NM_005751.5(AKAP9):c.9710G>A (p.Arg3237Gln) rs757123477 0.00001
NM_005751.5(AKAP9):c.9793C>G (p.Gln3265Glu) rs758717247 0.00001
NM_005751.5(AKAP9):c.9851A>G (p.Tyr3284Cys) rs780111217 0.00001
NM_005751.5(AKAP9):c.9857C>T (p.Ala3286Val) rs891249707 0.00001
NM_005911.6(MAT2A):c.1049A>T (p.Lys350Met) rs371262419 0.00001
NM_005911.6(MAT2A):c.952-3T>C rs367778290 0.00001
NM_006073.4(TRDN):c.1018G>A (p.Glu340Lys) rs778821180 0.00001
NM_006073.4(TRDN):c.1130A>G (p.Lys377Arg) rs750876367 0.00001
NM_006073.4(TRDN):c.1249C>G (p.Pro417Ala) rs773700571 0.00001
NM_006073.4(TRDN):c.1273+4T>C rs1261345499 0.00001
NM_006073.4(TRDN):c.1501T>A (p.Ser501Thr) rs370559465 0.00001
NM_006073.4(TRDN):c.1569G>T (p.Glu523Asp) rs1395279008 0.00001
NM_006073.4(TRDN):c.1622A>G (p.His541Arg) rs919195476 0.00001
NM_006073.4(TRDN):c.1624+3A>G rs917121544 0.00001
NM_006073.4(TRDN):c.176C>T (p.Thr59Met) rs397515459 0.00001
NM_006073.4(TRDN):c.1879G>C (p.Asp627His) rs997711349 0.00001
NM_006073.4(TRDN):c.1954G>A (p.Glu652Lys) rs1194412303 0.00001
NM_006073.4(TRDN):c.1976-3T>C rs934486291 0.00001
NM_006073.4(TRDN):c.2027A>G (p.Asp676Gly) rs1775147117 0.00001
NM_006073.4(TRDN):c.2074G>A (p.Val692Ile) rs1208049678 0.00001
NM_006073.4(TRDN):c.2176C>T (p.Gln726Ter) rs1414689230 0.00001
NM_006073.4(TRDN):c.22+4T>C rs757565507 0.00001
NM_006073.4(TRDN):c.284C>T (p.Ala95Val) rs764770921 0.00001
NM_006073.4(TRDN):c.311A>G (p.Tyr104Cys) rs1345111830 0.00001
NM_006073.4(TRDN):c.335A>T (p.Asp112Val) rs772376488 0.00001
NM_006073.4(TRDN):c.482A>C (p.Lys161Thr) rs886039003 0.00001
NM_006073.4(TRDN):c.482A>G (p.Lys161Arg) rs886039003 0.00001
NM_006073.4(TRDN):c.558C>A (p.His186Gln) rs1173699706 0.00001
NM_006073.4(TRDN):c.652A>C (p.Thr218Pro) rs1778805040 0.00001
NM_006073.4(TRDN):c.665T>G (p.Val222Gly) rs758037868 0.00001
NM_006073.4(TRDN):c.754G>T (p.Asp252Tyr) rs749401047 0.00001
NM_006073.4(TRDN):c.811C>T (p.Arg271Ter) rs1201954479 0.00001
NM_006073.4(TRDN):c.812G>A (p.Arg271Gln) rs772783444 0.00001
NM_006073.4(TRDN):c.826A>G (p.Ile276Val) rs150412658 0.00001
NM_006073.4(TRDN):c.851C>G (p.Pro284Arg) rs755534468 0.00001
NM_006073.4(TRDN):c.902G>A (p.Arg301Lys) rs780453421 0.00001
NM_006073.4(TRDN):c.949A>G (p.Lys317Glu) rs138624936 0.00001
NM_006073.4(TRDN):c.991+3A>G rs961504074 0.00001
NM_006393.3(NEBL):c.901G>A (p.Gly301Ser) rs773469997 0.00001
NM_006440.5(TXNRD2):c.1086+4C>T rs753380240 0.00001
NM_006440.5(TXNRD2):c.1087-2A>G rs1289412583 0.00001
NM_006440.5(TXNRD2):c.1169T>G (p.Met390Arg) rs758236709 0.00001
NM_006440.5(TXNRD2):c.1234G>A (p.Glu412Lys) rs781432469 0.00001
NM_006440.5(TXNRD2):c.1289A>C (p.His430Pro) rs376463546 0.00001
NM_006440.5(TXNRD2):c.1331C>G (p.Ser444Cys) rs749643976 0.00001
NM_006440.5(TXNRD2):c.1412G>A (p.Gly471Asp) rs754916024 0.00001
NM_006440.5(TXNRD2):c.1414G>A (p.Glu472Lys) rs766076027 0.00001
NM_006440.5(TXNRD2):c.1460A>G (p.Tyr487Cys) rs367711380 0.00001
NM_006440.5(TXNRD2):c.156G>A (p.Leu52=) rs939642675 0.00001
NM_006440.5(TXNRD2):c.172+3A>G rs923193498 0.00001
NM_006440.5(TXNRD2):c.224C>T (p.Pro75Leu) rs888739263 0.00001
NM_006440.5(TXNRD2):c.238T>C (p.Trp80Arg) rs762714876 0.00001
NM_006440.5(TXNRD2):c.338A>G (p.Tyr113Cys) rs905391308 0.00001
NM_006440.5(TXNRD2):c.449G>A (p.Arg150Lys) rs755356370 0.00001
NM_006440.5(TXNRD2):c.450-1G>A rs755703700 0.00001
NM_006440.5(TXNRD2):c.46C>T (p.Arg16Trp) rs777650793 0.00001
NM_006440.5(TXNRD2):c.497C>T (p.Thr166Met) rs553337931 0.00001
NM_006440.5(TXNRD2):c.508G>A (p.Val170Ile) rs574389555 0.00001
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val) rs373970291 0.00001
NM_006440.5(TXNRD2):c.627T>G (p.Asp209Glu) rs376336621 0.00001
NM_006440.5(TXNRD2):c.715G>A (p.Gly239Arg) rs978493213 0.00001
NM_006440.5(TXNRD2):c.720T>G (p.Ile240Met) rs1246351128 0.00001
NM_006440.5(TXNRD2):c.904G>A (p.Gly302Ser) rs781228620 0.00001
NM_006514.4(SCN10A):c.1078C>T (p.Arg360Cys) rs773808340 0.00001
NM_006514.4(SCN10A):c.1418A>T (p.Asp473Val) rs774806601 0.00001
NM_006514.4(SCN10A):c.1469T>C (p.Leu490Pro) rs745630620 0.00001
NM_006514.4(SCN10A):c.149A>C (p.Lys50Thr) rs757655001 0.00001
NM_006514.4(SCN10A):c.1523G>A (p.Arg508Gln) rs368776882 0.00001
NM_006514.4(SCN10A):c.1591G>A (p.Glu531Lys) rs866716316 0.00001
NM_006514.4(SCN10A):c.1730T>A (p.Leu577His) rs1060501716 0.00001
NM_006514.4(SCN10A):c.2064C>T (p.Gly688=) rs758224718 0.00001
NM_006514.4(SCN10A):c.2099G>A (p.Gly700Asp) rs1250669621 0.00001
NM_006514.4(SCN10A):c.2158G>A (p.Asp720Asn) rs781354273 0.00001
NM_006514.4(SCN10A):c.2222T>G (p.Leu741Arg) rs201342036 0.00001
NM_006514.4(SCN10A):c.2305T>C (p.Ser769Pro) rs1330358186 0.00001
NM_006514.4(SCN10A):c.2458A>G (p.Ile820Val) rs770101312 0.00001
NM_006514.4(SCN10A):c.2486G>A (p.Arg829His) rs752623537 0.00001
NM_006514.4(SCN10A):c.2527T>C (p.Phe843Leu) rs768541787 0.00001
NM_006514.4(SCN10A):c.2540G>A (p.Cys847Tyr) rs772757323 0.00001
NM_006514.4(SCN10A):c.257A>G (p.Tyr86Cys) rs1173154320 0.00001
NM_006514.4(SCN10A):c.2655C>T (p.Phe885=) rs755345820 0.00001
NM_006514.4(SCN10A):c.2658C>T (p.Ile886=) rs148963942 0.00001
NM_006514.4(SCN10A):c.2710G>A (p.Asp904Asn) rs774493534 0.00001
NM_006514.4(SCN10A):c.2749A>G (p.Ile917Val) rs995638455 0.00001
NM_006514.4(SCN10A):c.2764C>T (p.His922Tyr) rs763764330 0.00001
NM_006514.4(SCN10A):c.2767C>T (p.Arg923Cys) rs267599803 0.00001
NM_006514.4(SCN10A):c.2833C>T (p.Pro945Ser) rs372907454 0.00001
NM_006514.4(SCN10A):c.2939C>T (p.Pro980Leu) rs751340142 0.00001
NM_006514.4(SCN10A):c.319A>T (p.Thr107Ser) rs757050845 0.00001
NM_006514.4(SCN10A):c.322C>T (p.Arg108Trp) rs1131691525 0.00001
NM_006514.4(SCN10A):c.3280C>A (p.Pro1094Thr) rs973127854 0.00001
NM_006514.4(SCN10A):c.3374G>C (p.Cys1125Ser) rs1481868189 0.00001
NM_006514.4(SCN10A):c.3475A>G (p.Ile1159Val) rs753434251 0.00001
NM_006514.4(SCN10A):c.3476T>A (p.Ile1159Asn) rs777240104 0.00001
NM_006514.4(SCN10A):c.3521A>G (p.Tyr1174Cys) rs1167279918 0.00001
NM_006514.4(SCN10A):c.3571A>T (p.Arg1191Trp) rs773662455 0.00001
NM_006514.4(SCN10A):c.3580A>T (p.Thr1194Ser) rs780945258 0.00001
NM_006514.4(SCN10A):c.3667T>C (p.Phe1223Leu) rs1334180362 0.00001
NM_006514.4(SCN10A):c.3691A>T (p.Ile1231Leu) rs775185585 0.00001
NM_006514.4(SCN10A):c.3748C>T (p.Arg1250Ter) rs202134330 0.00001
NM_006514.4(SCN10A):c.3758G>A (p.Arg1253His) rs770705124 0.00001
NM_006514.4(SCN10A):c.3776G>A (p.Arg1259Gln) rs957441210 0.00001
NM_006514.4(SCN10A):c.3802C>T (p.Arg1268Trp) rs766044301 0.00001
NM_006514.4(SCN10A):c.3804+1G>A rs1363445455 0.00001
NM_006514.4(SCN10A):c.3890T>G (p.Ile1297Ser) rs978977328 0.00001
NM_006514.4(SCN10A):c.3942C>T (p.Thr1314=) rs760702095 0.00001
NM_006514.4(SCN10A):c.4016G>T (p.Gly1339Val) rs1191498319 0.00001
NM_006514.4(SCN10A):c.4025T>C (p.Phe1342Ser) rs763963972 0.00001
NM_006514.4(SCN10A):c.4028G>A (p.Trp1343Ter) rs756036768 0.00001
NM_006514.4(SCN10A):c.410C>T (p.Thr137Met) rs148663098 0.00001
NM_006514.4(SCN10A):c.4266T>A (p.Asn1422Lys) rs1334461772 0.00001
NM_006514.4(SCN10A):c.4327T>C (p.Tyr1443His) rs762798134 0.00001
NM_006514.4(SCN10A):c.43C>G (p.Arg15Gly) rs754392803 0.00001
NM_006514.4(SCN10A):c.4438A>G (p.Ile1480Val) rs1406169129 0.00001
NM_006514.4(SCN10A):c.4744C>T (p.Arg1582Cys) rs569261408 0.00001
NM_006514.4(SCN10A):c.4783A>G (p.Thr1595Ala) rs747919920 0.00001
NM_006514.4(SCN10A):c.4948A>T (p.Ser1650Cys) rs780649338 0.00001
NM_006514.4(SCN10A):c.4979C>T (p.Ser1660Leu) rs998456008 0.00001
NM_006514.4(SCN10A):c.5071G>T (p.Asp1691Tyr) rs774106005 0.00001
NM_006514.4(SCN10A):c.5177A>G (p.Asn1726Ser) rs1420941706 0.00001
NM_006514.4(SCN10A):c.5186C>T (p.Thr1729Met) rs751384151 0.00001
NM_006514.4(SCN10A):c.5301T>G (p.Phe1767Leu) rs2063111131 0.00001
NM_006514.4(SCN10A):c.5371C>A (p.Pro1791Thr) rs371803816 0.00001
NM_006514.4(SCN10A):c.5516A>G (p.Tyr1839Cys) rs777591347 0.00001
NM_006514.4(SCN10A):c.5587C>T (p.Arg1863Trp) rs370779258 0.00001
NM_006514.4(SCN10A):c.5588G>A (p.Arg1863Gln) rs191869263 0.00001
NM_006514.4(SCN10A):c.5613G>A (p.Met1871Ile) rs370483003 0.00001
NM_006514.4(SCN10A):c.5626A>G (p.Thr1876Ala) rs759136534 0.00001
NM_006514.4(SCN10A):c.5700T>A (p.Asn1900Lys) rs764330725 0.00001
NM_006514.4(SCN10A):c.5866C>A (p.Pro1956Thr) rs748441157 0.00001
NM_006514.4(SCN10A):c.753C>G (p.Ile251Met) rs747296872 0.00001
NM_006514.4(SCN10A):c.773G>T (p.Ser258Ile) rs758197140 0.00001
NM_006514.4(SCN10A):c.827G>A (p.Cys276Tyr) rs1251019283 0.00001
NM_006514.4(SCN10A):c.883C>T (p.Pro295Ser) rs371909817 0.00001
NM_006514.4(SCN10A):c.890T>C (p.Ile297Thr) rs553913580 0.00001
NM_006912.6(RIT1):c.13A>T (p.Thr5Ser) rs771768320 0.00001
NM_006912.6(RIT1):c.140C>T (p.Pro47Leu) rs747376042 0.00001
NM_006912.6(RIT1):c.326A>G (p.His109Arg) rs1407666045 0.00001
NM_006912.6(RIT1):c.334C>T (p.Arg112Cys) rs375724784 0.00001
NM_006912.6(RIT1):c.461G>A (p.Arg154Gln) rs754596127 0.00001
NM_006912.6(RIT1):c.46G>A (p.Ala16Thr) rs1131692009 0.00001
NM_006912.6(RIT1):c.500A>G (p.Tyr167Cys) rs1372704169 0.00001
NM_006939.4(SOS2):c.1557G>C (p.Glu519Asp) rs1884935096 0.00001
NM_006939.4(SOS2):c.189G>C (p.Gln63His) rs771269309 0.00001
NM_006939.4(SOS2):c.2245A>G (p.Asn749Asp) rs764992819 0.00001
NM_006939.4(SOS2):c.2264C>T (p.Pro755Leu) rs868005783 0.00001
NM_006939.4(SOS2):c.2602G>A (p.Gly868Ser) rs751419448 0.00001
NM_006939.4(SOS2):c.2730T>A (p.Phe910Leu) rs756711721 0.00001
NM_006939.4(SOS2):c.2957G>A (p.Arg986Lys) rs772746106 0.00001
NM_006939.4(SOS2):c.3026A>G (p.Asn1009Ser) rs779413196 0.00001
NM_006939.4(SOS2):c.3277C>T (p.Pro1093Ser) rs755233845 0.00001
NM_006939.4(SOS2):c.3356C>T (p.Ala1119Val) rs376113934 0.00001
NM_006939.4(SOS2):c.3698A>C (p.Asn1233Thr) rs201756168 0.00001
NM_006939.4(SOS2):c.374A>T (p.His125Leu) rs777300218 0.00001
NM_006939.4(SOS2):c.3782C>G (p.Thr1261Ser) rs780772018 0.00001
NM_006939.4(SOS2):c.3815G>A (p.Arg1272His) rs200104745 0.00001
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu) rs865922330 0.00001
NM_006939.4(SOS2):c.680C>G (p.Ala227Gly) rs756565236 0.00001
NM_007078.3(LDB3):c.1016C>G (p.Ala339Gly) rs764530865 0.00001
NM_007078.3(LDB3):c.1094C>T (p.Ala365Val) rs747011937 0.00001
NM_007078.3(LDB3):c.1132C>T (p.Pro378Ser) rs373546361 0.00001
NM_007078.3(LDB3):c.1153A>G (p.Ser385Gly) rs777547764 0.00001
NM_007078.3(LDB3):c.1211G>A (p.Arg404Gln) rs150868546 0.00001
NM_007078.3(LDB3):c.1298C>T (p.Pro433Leu) rs776138543 0.00001
NM_007078.3(LDB3):c.1313C>A (p.Thr438Asn) rs767914340 0.00001
NM_007078.3(LDB3):c.139G>A (p.Asp47Asn) rs397517212 0.00001
NM_007078.3(LDB3):c.13G>A (p.Val5Met) rs773170985 0.00001
NM_007078.3(LDB3):c.1421C>T (p.Ser474Leu) rs1011836119 0.00001
NM_007078.3(LDB3):c.1437G>C (p.Gly479=) rs960379328 0.00001
NM_007078.3(LDB3):c.1472T>A (p.Val491Glu) rs139709036 0.00001
NM_007078.3(LDB3):c.1502C>T (p.Ala501Val) rs755362259 0.00001
NM_007078.3(LDB3):c.1664A>G (p.Asn555Ser) rs760635362 0.00001
NM_007078.3(LDB3):c.1748C>G (p.Ser583Cys) rs1263835922 0.00001
NM_007078.3(LDB3):c.1798C>T (p.Arg600Ter) rs727503132 0.00001
NM_007078.3(LDB3):c.1805A>C (p.Tyr602Ser) rs1349969494 0.00001
NM_007078.3(LDB3):c.1885T>C (p.Trp629Arg) rs773554501 0.00001
NM_007078.3(LDB3):c.1894A>G (p.Thr632Ala) rs770525232 0.00001
NM_007078.3(LDB3):c.2119C>T (p.Gln707Ter) rs771316707 0.00001
NM_007078.3(LDB3):c.2142C>A (p.Asp714Glu) rs1054918785 0.00001
NM_007078.3(LDB3):c.2164G>A (p.Ala722Thr) rs727505129 0.00001
NM_007078.3(LDB3):c.254G>A (p.Arg85His) rs200420174 0.00001
NM_007078.3(LDB3):c.272C>T (p.Thr91Met) rs769237367 0.00001
NM_007078.3(LDB3):c.281C>T (p.Pro94Leu) rs772912790 0.00001
NM_007078.3(LDB3):c.324C>A (p.Asp108Glu) rs1322226509 0.00001
NM_007078.3(LDB3):c.343G>A (p.Gly115Ser) rs397517222 0.00001
NM_007078.3(LDB3):c.380G>A (p.Arg127Lys) rs1365412037 0.00001
NM_007078.3(LDB3):c.442C>T (p.Arg148Trp) rs536186237 0.00001
NM_007078.3(LDB3):c.467C>T (p.Ala156Val) rs1243384140 0.00001
NM_007078.3(LDB3):c.536A>G (p.Asp179Gly) rs794729058 0.00001
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu) rs774886148 0.00001
NM_007078.3(LDB3):c.575C>T (p.Pro192Leu) rs758182278 0.00001
NM_007078.3(LDB3):c.592C>T (p.Pro198Ser) rs1060501318 0.00001
NM_007078.3(LDB3):c.617C>T (p.Thr206Ile) rs121908337 0.00001
NM_007078.3(LDB3):c.645G>A (p.Gln215=) rs957930268 0.00001
NM_007078.3(LDB3):c.716T>C (p.Val239Ala) rs774595610 0.00001
NM_007078.3(LDB3):c.72C>A (p.Asn24Lys) rs1323002546 0.00001
NM_007078.3(LDB3):c.742G>A (p.Ala248Thr) rs369419493 0.00001
NM_007078.3(LDB3):c.782A>C (p.Asp261Ala) rs1285921374 0.00001
NM_007078.3(LDB3):c.790G>A (p.Ala264Thr) rs146414300 0.00001
NM_007078.3(LDB3):c.796C>T (p.Arg266Cys) rs776803568 0.00001
NM_007078.3(LDB3):c.817C>T (p.Arg273Cys) rs141116920 0.00001
NM_007078.3(LDB3):c.897-1_897del rs1354084230 0.00001
NM_007078.3(LDB3):c.914C>A (p.Ala305Glu) rs544084461 0.00001
NM_007078.3(LDB3):c.917C>T (p.Pro306Leu) rs955622381 0.00001
NM_007078.3(LDB3):c.938C>T (p.Thr313Ile) rs367882377 0.00001
NM_007078.3(LDB3):c.955G>A (p.Ala319Thr) rs151219713 0.00001
NM_007373.4(SHOC2):c.1288C>T (p.Leu430Phe) rs730881022 0.00001
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr) rs995403413 0.00001
NM_007373.4(SHOC2):c.1660A>G (p.Ser554Gly) rs771053632 0.00001
NM_007373.4(SHOC2):c.169T>C (p.Ser57Pro) rs754709778 0.00001
NM_007373.4(SHOC2):c.616A>G (p.Thr206Ala) rs370388274 0.00001
NM_007373.4(SHOC2):c.743A>G (p.Asn248Ser) rs374067666 0.00001
NM_007373.4(SHOC2):c.757C>T (p.Leu253Phe) rs1196924389 0.00001
NM_007373.4(SHOC2):c.770T>C (p.Ile257Thr) rs1300537933 0.00001
NM_012186.3(FOXE3):c.145G>C (p.Gly49Arg) rs958293767 0.00001
NM_012186.3(FOXE3):c.371C>T (p.Thr124Met) rs773472430 0.00001
NM_012186.3(FOXE3):c.52G>C (p.Ala18Pro) rs1401137576 0.00001
NM_012186.3(FOXE3):c.763G>A (p.Ala255Thr) rs911732099 0.00001
NM_012186.3(FOXE3):c.854C>A (p.Pro285His) rs1184373895 0.00001
NM_014000.3(VCL):c.1006G>A (p.Ala336Thr) rs565546734 0.00001
NM_014000.3(VCL):c.1046C>T (p.Ala349Val) rs777709634 0.00001
NM_014000.3(VCL):c.1050G>A (p.Met350Ile) rs771542436 0.00001
NM_014000.3(VCL):c.1114C>T (p.Arg372Cys) rs770954415 0.00001
NM_014000.3(VCL):c.1147A>G (p.Ser383Gly) rs1444969965 0.00001
NM_014000.3(VCL):c.1223T>C (p.Ile408Thr) rs878854969 0.00001
NM_014000.3(VCL):c.1238C>T (p.Ala413Val) rs794729190 0.00001
NM_014000.3(VCL):c.1246C>T (p.Arg416Trp) rs746004026 0.00001
NM_014000.3(VCL):c.1292T>G (p.Ile431Ser) rs766192312 0.00001
NM_014000.3(VCL):c.1298G>A (p.Arg433His) rs754046223 0.00001
NM_014000.3(VCL):c.1382C>G (p.Ala461Gly) rs886038800 0.00001
NM_014000.3(VCL):c.1433A>G (p.Asn478Ser) rs763235691 0.00001
NM_014000.3(VCL):c.1435C>T (p.Arg479Trp) rs369055603 0.00001
NM_014000.3(VCL):c.1604G>A (p.Gly535Glu) rs1342547968 0.00001
NM_014000.3(VCL):c.1612C>T (p.Arg538Trp) rs1371212023 0.00001
NM_014000.3(VCL):c.1640G>A (p.Arg547Gln) rs748044427 0.00001
NM_014000.3(VCL):c.1816A>G (p.Ile606Val) rs750293810 0.00001
NM_014000.3(VCL):c.1838C>T (p.Ala613Val) rs781520177 0.00001
NM_014000.3(VCL):c.184G>A (p.Val62Ile) rs147809878 0.00001
NM_014000.3(VCL):c.1863C>G (p.Asn621Lys) rs746293391 0.00001
NM_014000.3(VCL):c.1918C>G (p.Leu640Val) rs886047219 0.00001
NM_014000.3(VCL):c.1999A>G (p.Thr667Ala) rs1233764253 0.00001
NM_014000.3(VCL):c.2000C>T (p.Thr667Met) rs794729187 0.00001
NM_014000.3(VCL):c.2159A>T (p.Lys720Ile) rs1554818881 0.00001
NM_014000.3(VCL):c.2182G>A (p.Glu728Lys) rs144717954 0.00001
NM_014000.3(VCL):c.2284C>T (p.Arg762Trp) rs1334643090 0.00001
NM_014000.3(VCL):c.2285G>A (p.Arg762Gln) rs540039788 0.00001
NM_014000.3(VCL):c.2305A>G (p.Arg769Gly) rs566257885 0.00001
NM_014000.3(VCL):c.2332A>G (p.Lys778Glu) rs1840113067 0.00001
NM_014000.3(VCL):c.2338C>T (p.Arg780Cys) rs753445972 0.00001
NM_014000.3(VCL):c.2365G>A (p.Glu789Lys) rs745419923 0.00001
NM_014000.3(VCL):c.2378C>A (p.Thr793Asn) rs773421444 0.00001
NM_014000.3(VCL):c.238A>C (p.Lys80Gln) rs775532257 0.00001
NM_014000.3(VCL):c.239+3G>A rs372571288 0.00001
NM_014000.3(VCL):c.2602G>A (p.Gly868Ser) rs960636997 0.00001
NM_014000.3(VCL):c.2803G>A (p.Asp935Asn) rs746658025 0.00001
NM_014000.3(VCL):c.2807C>T (p.Ala936Val) rs754681045 0.00001
NM_014000.3(VCL):c.2829del (p.Asp944fs) rs750347797 0.00001
NM_014000.3(VCL):c.2834T>C (p.Met945Thr) rs1443843519 0.00001
NM_014000.3(VCL):c.2852C>G (p.Pro951Arg) rs368570586 0.00001
NM_014000.3(VCL):c.2867T>G (p.Met956Arg) rs765717598 0.00001
NM_014000.3(VCL):c.2893C>T (p.Pro965Ser) rs749236817 0.00001
NM_014000.3(VCL):c.2923C>T (p.Arg975Trp) rs121917776 0.00001
NM_014000.3(VCL):c.292G>A (p.Asp98Asn) rs794729193 0.00001
NM_014000.3(VCL):c.3007C>T (p.Arg1003Trp) rs753166628 0.00001
NM_014000.3(VCL):c.3259-5T>C rs1057523095 0.00001
NM_014000.3(VCL):c.457A>C (p.Thr153Pro) rs376921881 0.00001
NM_014000.3(VCL):c.527A>G (p.Asp176Gly) rs573623641 0.00001
NM_014000.3(VCL):c.529G>A (p.Glu177Lys) rs1007055332 0.00001
NM_014000.3(VCL):c.562C>T (p.Arg188Ter) rs397517244 0.00001
NM_014000.3(VCL):c.581C>T (p.Ser194Leu) rs921627346 0.00001
NM_014000.3(VCL):c.689G>A (p.Arg230His) rs749628307 0.00001
NM_014000.3(VCL):c.739G>A (p.Val247Met) rs545372383 0.00001
NM_014000.3(VCL):c.844G>T (p.Gly282Cys) rs766091503 0.00001
NM_014000.3(VCL):c.952C>T (p.Arg318Cys) rs397517247 0.00001
NM_014000.3(VCL):c.997G>A (p.Asp333Asn) rs778677392 0.00001
NM_014391.3(ANKRD1):c.175C>G (p.Gln59Glu) rs1057521825 0.00001
NM_014391.3(ANKRD1):c.194A>C (p.Gln65Pro) rs759803899 0.00001
NM_014391.3(ANKRD1):c.214A>G (p.Lys72Glu) rs1564574800 0.00001
NM_014391.3(ANKRD1):c.28-3T>C rs369640260 0.00001
NM_014391.3(ANKRD1):c.300G>C (p.Arg100Ser) rs1323094013 0.00001
NM_014391.3(ANKRD1):c.3G>C (p.Met1Ile) rs188706671 0.00001
NM_014391.3(ANKRD1):c.404T>A (p.Val135Glu) rs995351186 0.00001
NM_014391.3(ANKRD1):c.460C>T (p.Arg154Trp) rs751739709 0.00001
NM_014391.3(ANKRD1):c.523G>A (p.Ala175Thr) rs914206942 0.00001
NM_014391.3(ANKRD1):c.534G>T (p.Gln178His) rs1415990803 0.00001
NM_014391.3(ANKRD1):c.625G>C (p.Gly209Arg) rs754771221 0.00001
NM_014391.3(ANKRD1):c.722G>A (p.Cys241Tyr) rs143802739 0.00001
NM_014391.3(ANKRD1):c.728C>G (p.Ala243Gly) rs756211418 0.00001
NM_014391.3(ANKRD1):c.759T>A (p.Asp253Glu) rs139885263 0.00001
NM_014391.3(ANKRD1):c.863C>T (p.Pro288Leu) rs1482577739 0.00001
NM_014391.3(ANKRD1):c.943C>T (p.Arg315Cys) rs775584071 0.00001
NM_014476.6(PDLIM3):c.895A>C (p.Ser299Arg) rs1034968896 0.00001
NM_014908.4(DOLK):c.1010G>A (p.Arg337Gln) rs759025031 0.00001
NM_014908.4(DOLK):c.1159A>G (p.Thr387Ala) rs747285047 0.00001
NM_014908.4(DOLK):c.1178C>T (p.Ser393Phe) rs982668501 0.00001
NM_014908.4(DOLK):c.1190A>G (p.Asp397Gly) rs753795845 0.00001
NM_014908.4(DOLK):c.1303G>C (p.Ala435Pro) rs1306365829 0.00001
NM_014908.4(DOLK):c.1419T>G (p.Phe473Leu) rs780799327 0.00001
NM_014908.4(DOLK):c.1445C>T (p.Ala482Val) rs767693634 0.00001
NM_014908.4(DOLK):c.1594C>T (p.Leu532Phe) rs140350881 0.00001
NM_014908.4(DOLK):c.175A>G (p.Lys59Glu) rs771383826 0.00001
NM_014908.4(DOLK):c.292C>T (p.Arg98Trp) rs747555089 0.00001
NM_014908.4(DOLK):c.401G>A (p.Arg134His) rs768596252 0.00001
NM_014908.4(DOLK):c.432G>C (p.Leu144Phe) rs780422418 0.00001
NM_014908.4(DOLK):c.463A>T (p.Met155Leu) rs1218829181 0.00001
NM_014908.4(DOLK):c.472T>A (p.Ser158Thr) rs1246967572 0.00001
NM_014908.4(DOLK):c.493A>G (p.Ile165Val) rs762432181 0.00001
NM_014908.4(DOLK):c.560G>T (p.Arg187Leu) rs377658203 0.00001
NM_014908.4(DOLK):c.581C>T (p.Ala194Val) rs763132281 0.00001
NM_014908.4(DOLK):c.703G>A (p.Val235Ile) rs759019995 0.00001
NM_014908.4(DOLK):c.710T>C (p.Met237Thr) rs201363976 0.00001
NM_014908.4(DOLK):c.719T>C (p.Phe240Ser) rs765475110 0.00001
NM_014908.4(DOLK):c.725G>A (p.Ser242Asn) rs876657786 0.00001
NM_014908.4(DOLK):c.73G>A (p.Ala25Thr) rs764980710 0.00001
NM_014908.4(DOLK):c.967T>C (p.Ser323Pro) rs750702584 0.00001
NM_015141.4(GPD1L):c.1A>G (p.Met1Val) rs148643167 0.00001
NM_015141.4(GPD1L):c.298A>G (p.Ile100Val) rs771610382 0.00001
NM_015141.4(GPD1L):c.344C>T (p.Ala115Val) rs765497074 0.00001
NM_015141.4(GPD1L):c.376del (p.Glu126fs) rs761698828 0.00001
NM_015141.4(GPD1L):c.383C>T (p.Pro128Leu) rs201900323 0.00001
NM_015141.4(GPD1L):c.385G>A (p.Glu129Lys) rs751477655 0.00001
NM_015141.4(GPD1L):c.416G>A (p.Arg139His) rs775043567 0.00001
NM_015141.4(GPD1L):c.47+1G>A rs1221530760 0.00001
NM_015141.4(GPD1L):c.652G>A (p.Gly218Ser) rs559530222 0.00001
NM_015141.4(GPD1L):c.671A>G (p.Asn224Ser) rs1332344958 0.00001
NM_015141.4(GPD1L):c.692G>A (p.Arg231His) rs869025436 0.00001
NM_015141.4(GPD1L):c.878T>C (p.Met293Thr) rs188138719 0.00001
NM_015141.4(GPD1L):c.905C>T (p.Pro302Leu) rs1409253059 0.00001
NM_015141.4(GPD1L):c.959A>G (p.Lys320Arg) rs769123169 0.00001
NM_015141.4(GPD1L):c.977C>A (p.Ala326Glu) rs774304068 0.00001
NM_015141.4(GPD1L):c.987G>T (p.Gln329His) rs767661465 0.00001
NM_015141.4(GPD1L):c.997G>A (p.Glu333Lys) rs201799095 0.00001
NM_015627.3(LDLRAP1):c.278C>T (p.Ser93Leu) rs559751073 0.00001
NM_015627.3(LDLRAP1):c.331G>A (p.Val111Met) rs746197297 0.00001
NM_015627.3(LDLRAP1):c.339A>G (p.Ile113Met) rs780582666 0.00001
NM_015627.3(LDLRAP1):c.34A>G (p.Ile12Val) rs1250534468 0.00001
NM_016203.4(PRKAG2):c.1003A>G (p.Met335Val) rs769428744 0.00001
NM_016203.4(PRKAG2):c.1172T>C (p.Ile391Thr) rs1425296851 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.1295C>T (p.Thr432Met) rs760879406 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn) rs186114650 0.00001
NM_016203.4(PRKAG2):c.1637C>G (p.Ser546Cys) rs1584912413 0.00001
NM_016203.4(PRKAG2):c.292A>G (p.Ser98Gly) rs1243030792 0.00001
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu) rs730880985 0.00001
NM_016203.4(PRKAG2):c.347G>T (p.Arg116Leu) rs369471907 0.00001
NM_016203.4(PRKAG2):c.359G>T (p.Arg120Leu) rs775756069 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.475C>T (p.Leu159Phe) rs1832795622 0.00001
NM_016203.4(PRKAG2):c.56G>A (p.Gly19Glu) rs368522976 0.00001
NM_016203.4(PRKAG2):c.592C>T (p.Pro198Ser) rs753859556 0.00001
NM_016203.4(PRKAG2):c.632G>A (p.Ser211Asn) rs768909087 0.00001
NM_016203.4(PRKAG2):c.64G>A (p.Gly22Ser) rs1057524523 0.00001
NM_016203.4(PRKAG2):c.685-1G>A rs1824685527 0.00001
NM_016203.4(PRKAG2):c.691C>G (p.Leu231Val) rs745772277 0.00001
NM_016203.4(PRKAG2):c.979C>G (p.Leu327Val) rs730880988 0.00001
NM_016204.4(GDF2):c.825del (p.Met275fs) rs1555209009 0.00001
NM_016204.4(GDF2):c.964G>A (p.Gly322Arg) rs782796080 0.00001
NM_016599.5(MYOZ2):c.11A>T (p.His4Leu) rs376901669 0.00001
NM_016599.5(MYOZ2):c.181C>T (p.Arg61Cys) rs755233280 0.00001
NM_016599.5(MYOZ2):c.247-3C>T rs774202003 0.00001
NM_016599.5(MYOZ2):c.275T>C (p.Val92Ala) rs764229797 0.00001
NM_016599.5(MYOZ2):c.343C>T (p.Arg115Ter) rs374655743 0.00001
NM_016599.5(MYOZ2):c.497T>C (p.Leu166Ser) rs1227160156 0.00001
NM_016599.5(MYOZ2):c.749C>T (p.Thr250Ile) rs774131437 0.00001
NM_016938.5(EFEMP2):c.110C>T (p.Thr37Met) rs921412303 0.00001
NM_016938.5(EFEMP2):c.1183G>A (p.Val395Ile) rs543567156 0.00001
NM_016938.5(EFEMP2):c.1225C>T (p.Arg409Trp) rs774325189 0.00001
NM_016938.5(EFEMP2):c.253G>A (p.Ala85Thr) rs148604051 0.00001
NM_016938.5(EFEMP2):c.286C>T (p.Pro96Ser) rs141721562 0.00001
NM_016938.5(EFEMP2):c.321C>A (p.Asn107Lys) rs762409753 0.00001
NM_016938.5(EFEMP2):c.496G>A (p.Asp166Asn) rs145037272 0.00001
NM_016938.5(EFEMP2):c.505C>T (p.Arg169Cys) rs762712612 0.00001
NM_016938.5(EFEMP2):c.557G>C (p.Cys186Ser) rs1361657266 0.00001
NM_016938.5(EFEMP2):c.579G>C (p.Gln193His) rs1565273832 0.00001
NM_016938.5(EFEMP2):c.836G>A (p.Arg279His) rs756905509 0.00001
NM_016938.5(EFEMP2):c.96G>T (p.Glu32Asp) rs1011011078 0.00001
NM_016938.5(EFEMP2):c.989C>T (p.Pro330Leu) rs781029572 0.00001
NM_017636.4(TRPM4):c.1003A>G (p.Ile335Val) rs758151540 0.00001
NM_017636.4(TRPM4):c.1006A>G (p.Arg336Gly) rs748424780 0.00001
NM_017636.4(TRPM4):c.1070G>A (p.Arg357Gln) rs144328631 0.00001
NM_017636.4(TRPM4):c.1138G>A (p.Ala380Thr) rs1322849120 0.00001
NM_017636.4(TRPM4):c.1150+5A>T rs200371133 0.00001
NM_017636.4(TRPM4):c.1163C>T (p.Ser388Leu) rs771887682 0.00001
NM_017636.4(TRPM4):c.1216G>A (p.Val406Met) rs188677941 0.00001
NM_017636.4(TRPM4):c.1244G>A (p.Arg415Gln) rs372791133 0.00001
NM_017636.4(TRPM4):c.13G>A (p.Glu5Lys) rs999572673 0.00001
NM_017636.4(TRPM4):c.1453G>A (p.Gly485Ser) rs773556358 0.00001
NM_017636.4(TRPM4):c.1569C>T (p.Gly523=) rs751825185 0.00001
NM_017636.4(TRPM4):c.1612T>C (p.Tyr538His) rs528643605 0.00001
NM_017636.4(TRPM4):c.1697C>T (p.Ala566Val) rs1305383202 0.00001
NM_017636.4(TRPM4):c.1795A>G (p.Met599Val) rs139753455 0.00001
NM_017636.4(TRPM4):c.1991G>A (p.Arg664His) rs367897902 0.00001
NM_017636.4(TRPM4):c.2019+5G>A rs370812642 0.00001
NM_017636.4(TRPM4):c.2053G>A (p.Ala685Thr) rs761730198 0.00001
NM_017636.4(TRPM4):c.2117G>A (p.Arg706His) rs79868934 0.00001
NM_017636.4(TRPM4):c.2136A>G (p.Lys712=) rs368500945 0.00001
NM_017636.4(TRPM4):c.2211-5C>A rs749307006 0.00001
NM_017636.4(TRPM4):c.2264G>A (p.Arg755His) rs751903628 0.00001
NM_017636.4(TRPM4):c.2274C>G (p.Cys758Trp) rs777409336 0.00001
NM_017636.4(TRPM4):c.2275T>G (p.Cys759Gly) rs757164235 0.00001
NM_017636.4(TRPM4):c.2330G>A (p.Gly777Asp) rs771427749 0.00001
NM_017636.4(TRPM4):c.2404C>T (p.Leu802Phe) rs1289712382 0.00001
NM_017636.4(TRPM4):c.2497C>G (p.Leu833Val) rs1292906151 0.00001
NM_017636.4(TRPM4):c.2654C>T (p.Pro885Leu) rs371259147 0.00001
NM_017636.4(TRPM4):c.268-1G>A rs140487844 0.00001
NM_017636.4(TRPM4):c.2714G>A (p.Arg905Gln) rs1968868883 0.00001
NM_017636.4(TRPM4):c.2738A>G (p.Asn913Ser) rs749667228 0.00001
NM_017636.4(TRPM4):c.2815G>T (p.Val939Leu) rs749058255 0.00001
NM_017636.4(TRPM4):c.287G>A (p.Arg96Gln) rs564940023 0.00001
NM_017636.4(TRPM4):c.290C>T (p.Thr97Met) rs570570457 0.00001
NM_017636.4(TRPM4):c.2944G>A (p.Asp982Asn) rs774859499 0.00001
NM_017636.4(TRPM4):c.2981C>T (p.Ser994Leu) rs575737661 0.00001
NM_017636.4(TRPM4):c.3062T>A (p.Val1021Glu) rs779059936 0.00001
NM_017636.4(TRPM4):c.3130A>T (p.Ser1044Cys) rs780227965 0.00001
NM_017636.4(TRPM4):c.3200G>T (p.Arg1067Leu) rs781475700 0.00001
NM_017636.4(TRPM4):c.3446A>G (p.Lys1149Arg) rs202010190 0.00001
NM_017636.4(TRPM4):c.3449G>T (p.Arg1150Leu) rs1273337644 0.00001
NM_017636.4(TRPM4):c.38A>G (p.Lys13Arg) rs767972673 0.00001
NM_017636.4(TRPM4):c.415C>T (p.Arg139Cys) rs765443118 0.00001
NM_017636.4(TRPM4):c.418C>T (p.Arg140Cys) rs1026482252 0.00001
NM_017636.4(TRPM4):c.490C>T (p.Arg164Trp) rs387907216 0.00001
NM_017636.4(TRPM4):c.634C>T (p.Arg212Trp) rs759593186 0.00001
NM_017636.4(TRPM4):c.640C>T (p.Arg214Cys) rs149860526 0.00001
NM_017636.4(TRPM4):c.650C>T (p.Pro217Leu) rs750644014 0.00001
NM_017636.4(TRPM4):c.658G>A (p.Gly220Arg) rs1161880335 0.00001
NM_017636.4(TRPM4):c.689C>T (p.Ser230Leu) rs558212476 0.00001
NM_017636.4(TRPM4):c.697T>C (p.Phe233Leu) rs770448797 0.00001
NM_017636.4(TRPM4):c.722G>T (p.Gly241Val) rs1967332418 0.00001
NM_017636.4(TRPM4):c.920C>T (p.Ala307Val) rs778825571 0.00001
NM_017636.4(TRPM4):c.923C>T (p.Ala308Val) rs747192078 0.00001
NM_017636.4(TRPM4):c.970G>T (p.Gly324Trp) rs548064960 0.00001
NM_017636.4(TRPM4):c.994C>T (p.Arg332Ter) rs753753488 0.00001
NM_017946.4(FKBP14):c.136G>T (p.Asp46Tyr) rs750062960 0.00001
NM_017946.4(FKBP14):c.173A>C (p.Lys58Thr) rs769609634 0.00001
NM_017946.4(FKBP14):c.233C>T (p.Thr78Ile) rs758100842 0.00001
NM_017946.4(FKBP14):c.25G>A (p.Val9Ile) rs1198123802 0.00001
NM_017946.4(FKBP14):c.467C>A (p.Ser156Tyr) rs751708321 0.00001
NM_017946.4(FKBP14):c.512A>C (p.His171Pro) rs147665999 0.00001
NM_017946.4(FKBP14):c.619A>C (p.Lys207Gln) rs1281054139 0.00001
NM_018699.4(PRDM5):c.557T>A (p.Leu186His) rs1251163677 0.00001
NM_018699.4(PRDM5):c.692C>T (p.Ser231Leu) rs750031024 0.00001
NM_018699.4(PRDM5):c.705G>C (p.Gln235His) rs145114094 0.00001
NM_020297.4(ABCC9):c.1013T>C (p.Ile338Thr) rs756300282 0.00001
NM_020297.4(ABCC9):c.1130T>C (p.Ile377Thr) rs368908490 0.00001
NM_020297.4(ABCC9):c.1164+4T>C rs201001352 0.00001
NM_020297.4(ABCC9):c.1381G>C (p.Ala461Pro) rs374535641 0.00001
NM_020297.4(ABCC9):c.1603T>C (p.Tyr535His) rs397517184 0.00001
NM_020297.4(ABCC9):c.1817A>C (p.Asn606Thr) rs149229372 0.00001
NM_020297.4(ABCC9):c.1858C>T (p.Arg620Ter) rs1024095026 0.00001
NM_020297.4(ABCC9):c.1874C>T (p.Ser625Leu) rs75460545 0.00001
NM_020297.4(ABCC9):c.1877T>C (p.Leu626Pro) rs1002300338 0.00001
NM_020297.4(ABCC9):c.1978C>T (p.Arg660Trp) rs760889253 0.00001
NM_020297.4(ABCC9):c.2045G>A (p.Gly682Asp) rs752106985 0.00001
NM_020297.4(ABCC9):c.2190C>A (p.His730Gln) rs771887289 0.00001
NM_020297.4(ABCC9):c.21dup (p.Asn8Ter) rs1264575683 0.00001
NM_020297.4(ABCC9):c.2222T>C (p.Phe741Ser) rs146944210 0.00001
NM_020297.4(ABCC9):c.2586C>A (p.Asp862Glu) rs768765531 0.00001
NM_020297.4(ABCC9):c.3073A>G (p.Asn1025Asp) rs372020861 0.00001
NM_020297.4(ABCC9):c.3227T>C (p.Ile1076Thr) rs1356591712 0.00001
NM_020297.4(ABCC9):c.3275T>G (p.Ile1092Ser) rs182158174 0.00001
NM_020297.4(ABCC9):c.337G>A (p.Val113Ile) rs200723629 0.00001
NM_020297.4(ABCC9):c.3479T>G (p.Leu1160Arg) rs780799175 0.00001
NM_020297.4(ABCC9):c.3575C>A (p.Thr1192Asn) rs1475546623 0.00001
NM_020297.4(ABCC9):c.3893-3C>T rs762931725 0.00001
NM_020297.4(ABCC9):c.3894T>A (p.Asp1298Glu) rs1411910709 0.00001
NM_020297.4(ABCC9):c.395A>G (p.Lys132Arg) rs727505161 0.00001
NM_020297.4(ABCC9):c.3994G>A (p.Val1332Ile) rs200350065 0.00001
NM_020297.4(ABCC9):c.4309G>T (p.Gly1437Cys) rs1320941493 0.00001
NM_020297.4(ABCC9):c.437T>A (p.Ile146Asn) rs149325742 0.00001
NM_020297.4(ABCC9):c.4512+691G>A rs777661095 0.00001
NM_020297.4(ABCC9):c.49G>A (p.Asp17Asn) rs772070154 0.00001
NM_020297.4(ABCC9):c.595C>A (p.Pro199Thr) rs1246348470 0.00001
NM_020297.4(ABCC9):c.971G>A (p.Arg324His) rs886039121 0.00001
NM_020433.5(JPH2):c.1238A>G (p.Asn413Ser) rs778937072 0.00001
NM_020433.5(JPH2):c.1240A>G (p.Ile414Val) rs537544755 0.00001
NM_020433.5(JPH2):c.1247G>T (p.Arg416Leu) rs190802013 0.00001
NM_020433.5(JPH2):c.1267G>T (p.Ala423Ser) rs753716480 0.00001
NM_020433.5(JPH2):c.1292C>T (p.Pro431Leu) rs1272859605 0.00001
NM_020433.5(JPH2):c.1306C>T (p.Arg436Cys) rs1326977511 0.00001
NM_020433.5(JPH2):c.1364G>A (p.Arg455Gln) rs1216784399 0.00001
NM_020433.5(JPH2):c.1394C>T (p.Pro465Leu) rs908189174 0.00001
NM_020433.5(JPH2):c.1436G>T (p.Arg479Leu) rs1229570054 0.00001
NM_020433.5(JPH2):c.1589C>T (p.Ala530Val) rs754961884 0.00001
NM_020433.5(JPH2):c.1729G>A (p.Glu577Lys) rs181096982 0.00001
NM_020433.5(JPH2):c.1750C>A (p.Gln584Lys) rs730880253 0.00001
NM_020433.5(JPH2):c.1753C>T (p.Pro585Ser) rs745760392 0.00001
NM_020433.5(JPH2):c.1781C>T (p.Ser594Phe) rs1036911295 0.00001
NM_020433.5(JPH2):c.1846C>T (p.Arg616Cys) rs543276833 0.00001
NM_020433.5(JPH2):c.1847G>T (p.Arg616Leu) rs200081425 0.00001
NM_020433.5(JPH2):c.1948G>A (p.Ala650Thr) rs111319388 0.00001
NM_020433.5(JPH2):c.1990G>A (p.Ala664Thr) rs886039086 0.00001
NM_020433.5(JPH2):c.1991C>T (p.Ala664Val) rs766295044 0.00001
NM_020433.5(JPH2):c.277C>T (p.Arg93Cys) rs747893109 0.00001
NM_020433.5(JPH2):c.302G>A (p.Ser101Asn) rs1281048375 0.00001
NM_020433.5(JPH2):c.421T>C (p.Tyr141His) rs387906897 0.00001
NM_020433.5(JPH2):c.443C>T (p.Pro148Leu) rs772582964 0.00001
NM_020433.5(JPH2):c.535T>C (p.Ser179Pro) rs1272379812 0.00001
NM_020433.5(JPH2):c.575C>T (p.Ser192Leu) rs1481973487 0.00001
NM_020433.5(JPH2):c.611T>G (p.Leu204Arg) rs1369796322 0.00001
NM_020433.5(JPH2):c.620A>G (p.Asn207Ser) rs976272461 0.00001
NM_020433.5(JPH2):c.665A>G (p.Gln222Arg) rs766395991 0.00001
NM_020433.5(JPH2):c.962A>G (p.Asn321Ser) rs373731005 0.00001
NM_020433.5(JPH2):c.968G>A (p.Arg323His) rs778739555 0.00001
NM_020778.4(ALPK3):c.140C>A (p.Ala47Glu) rs1369786736 0.00001
NM_020778.4(ALPK3):c.295C>T (p.Pro99Ser) rs1029763180 0.00001
NM_020778.4(ALPK3):c.407C>G (p.Ser136Cys) rs1249463407 0.00001
NM_020778.4(ALPK3):c.492C>T (p.Gly164=) rs1963370785 0.00001
NM_020778.5(ALPK3):c.-14G>A rs1194445562 0.00001
NM_020778.5(ALPK3):c.1079C>T (p.Pro360Leu) rs1963647073 0.00001
NM_020778.5(ALPK3):c.137A>G (p.Glu46Gly) rs775198429 0.00001
NM_020778.5(ALPK3):c.1562C>G (p.Ser521Cys) rs1963655398 0.00001
NM_020778.5(ALPK3):c.1574C>T (p.Pro525Leu) rs767048211 0.00001
NM_020778.5(ALPK3):c.1765G>A (p.Asp589Asn) rs146892833 0.00001
NM_020778.5(ALPK3):c.182+1G>A rs1963449829 0.00001
NM_020778.5(ALPK3):c.1846A>G (p.Ile616Val) rs753965640 0.00001
NM_020778.5(ALPK3):c.1961A>T (p.Asp654Val) rs1027334963 0.00001
NM_020778.5(ALPK3):c.2134T>G (p.Ser712Ala) rs571389749 0.00001
NM_020778.5(ALPK3):c.2147C>T (p.Ala716Val) rs779674365 0.00001
NM_020778.5(ALPK3):c.2230A>G (p.Thr744Ala) rs754504711 0.00001
NM_020778.5(ALPK3):c.230C>T (p.Pro77Leu) rs372130536 0.00001
NM_020778.5(ALPK3):c.2426G>A (p.Ser809Asn) rs1220203156 0.00001
NM_020778.5(ALPK3):c.2536G>C (p.Gly846Arg) rs202153052 0.00001
NM_020778.5(ALPK3):c.2600T>A (p.Met867Lys) rs376587216 0.00001
NM_020778.5(ALPK3):c.2657C>T (p.Thr886Ile) rs1275702908 0.00001
NM_020778.5(ALPK3):c.26G>A (p.Arg9Gln) rs759651543 0.00001
NM_020778.5(ALPK3):c.2798A>T (p.Glu933Val) rs758445691 0.00001
NM_020778.5(ALPK3):c.2807G>A (p.Cys936Tyr) rs777884466 0.00001
NM_020778.5(ALPK3):c.2843G>A (p.Gly948Asp) rs774855948 0.00001
NM_020778.5(ALPK3):c.2858A>T (p.Asp953Val) rs1393907055 0.00001
NM_020778.5(ALPK3):c.2906A>C (p.Lys969Thr) rs985027215 0.00001
NM_020778.5(ALPK3):c.2926A>G (p.Ser976Gly) rs1874204001 0.00001
NM_020778.5(ALPK3):c.2993C>T (p.Thr998Ile) rs773997314 0.00001
NM_020778.5(ALPK3):c.3049C>T (p.Arg1017Cys) rs771137848 0.00001
NM_020778.5(ALPK3):c.3086C>A (p.Thr1029Asn) rs1051437969 0.00001
NM_020778.5(ALPK3):c.3155G>A (p.Arg1052His) rs980330574 0.00001
NM_020778.5(ALPK3):c.3161C>G (p.Ala1054Gly) rs1209594795 0.00001
NM_020778.5(ALPK3):c.3226G>A (p.Val1076Ile) rs751943226 0.00001
NM_020778.5(ALPK3):c.3374G>A (p.Gly1125Glu) rs748854704 0.00001
NM_020778.5(ALPK3):c.3451C>T (p.Leu1151Phe) rs779886712 0.00001
NM_020778.5(ALPK3):c.3490C>T (p.Arg1164Trp) rs779709566 0.00001
NM_020778.5(ALPK3):c.3532G>A (p.Gly1178Arg) rs377179290 0.00001
NM_020778.5(ALPK3):c.3737G>A (p.Gly1246Asp) rs1963898743 0.00001
NM_020778.5(ALPK3):c.3824A>G (p.Gln1275Arg) rs1390037202 0.00001
NM_020778.5(ALPK3):c.3841C>T (p.Arg1281Trp) rs370816513 0.00001
NM_020778.5(ALPK3):c.3939G>C (p.Gln1313His) rs935977042 0.00001
NM_020778.5(ALPK3):c.4034G>A (p.Arg1345Gln) rs768456090 0.00001
NM_020778.5(ALPK3):c.4165G>A (p.Ala1389Thr) rs765113565 0.00001
NM_020778.5(ALPK3):c.4174C>G (p.Leu1392Val) rs771958254 0.00001
NM_020778.5(ALPK3):c.4193G>T (p.Trp1398Leu) rs756411505 0.00001
NM_020778.5(ALPK3):c.4307T>A (p.Phe1436Tyr) rs373233818 0.00001
NM_020778.5(ALPK3):c.4394A>G (p.Tyr1465Cys) rs771616717 0.00001
NM_020778.5(ALPK3):c.4429A>G (p.Met1477Val) rs373576199 0.00001
NM_020778.5(ALPK3):c.4431G>A (p.Met1477Ile) rs1473386110 0.00001
NM_020778.5(ALPK3):c.4468C>T (p.Arg1490Trp) rs376691515 0.00001
NM_020778.5(ALPK3):c.4475C>T (p.Ala1492Val) rs538810746 0.00001
NM_020778.5(ALPK3):c.461C>T (p.Ala154Val) rs913849174 0.00001
NM_020778.5(ALPK3):c.4622C>T (p.Pro1541Leu) rs767340370 0.00001
NM_020778.5(ALPK3):c.4769G>A (p.Arg1590Gln) rs1432141737 0.00001
NM_020778.5(ALPK3):c.4940G>A (p.Arg1647Lys) rs772672818 0.00001
NM_020778.5(ALPK3):c.5096C>T (p.Ser1699Phe) rs770515435 0.00001
NM_020778.5(ALPK3):c.5100G>C (p.Lys1700Asn) rs1010741163 0.00001
NM_020778.5(ALPK3):c.512C>A (p.Thr171Asn) rs774567371 0.00001
NM_020778.5(ALPK3):c.560G>T (p.Arg187Leu) rs1314564648 0.00001
NM_020778.5(ALPK3):c.59G>A (p.Gly20Glu) rs1403282196 0.00001
NM_020778.5(ALPK3):c.677G>A (p.Arg226Gln) rs755804498 0.00001
NM_020778.5(ALPK3):c.703C>A (p.Pro235Thr) rs1238212189 0.00001
NM_020778.5(ALPK3):c.899T>A (p.Met300Lys) rs1283338715 0.00001
NM_020778.5(ALPK3):c.945G>C (p.Lys315Asn) rs970840303 0.00001
NM_021167.5(GATAD1):c.151G>T (p.Gly51Trp) rs1320172026 0.00001
NM_021167.5(GATAD1):c.308C>T (p.Ala103Val) rs374329900 0.00001
NM_021167.5(GATAD1):c.431A>G (p.Tyr144Cys) rs200584566 0.00001
NM_021167.5(GATAD1):c.515G>C (p.Gly172Ala) rs1237515001 0.00001
NM_021167.5(GATAD1):c.611A>G (p.Tyr204Cys) rs922487847 0.00001
NM_022436.3(ABCG5):c.1049C>T (p.Thr350Met) rs148131742 0.00001
NM_022436.3(ABCG5):c.1196T>G (p.Phe399Cys) rs1369215333 0.00001
NM_022436.3(ABCG5):c.1366G>A (p.Gly456Ser) rs200378113 0.00001
NM_022436.3(ABCG5):c.281C>G (p.Thr94Arg) rs558993616 0.00001
NM_022436.3(ABCG5):c.642G>A (p.Met214Ile) rs1369776473 0.00001
NM_022436.3(ABCG5):c.940C>T (p.Arg314Trp) rs142971825 0.00001
NM_022436.3(ABCG5):c.941G>A (p.Arg314Gln) rs544541406 0.00001
NM_022436.3(ABCG5):c.975A>G (p.Ile325Met) rs1296464024 0.00001
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg) rs554680915 0.00001
NM_022437.3(ABCG8):c.1202C>T (p.Thr401Met) rs776792168 0.00001
NM_022437.3(ABCG8):c.1366G>A (p.Gly456Ser) rs1367618593 0.00001
NM_022437.3(ABCG8):c.1385A>G (p.Asn462Ser) rs769333089 0.00001
NM_022437.3(ABCG8):c.1513T>C (p.Cys505Arg) rs1020921571 0.00001
NM_022437.3(ABCG8):c.1691A>G (p.Asn564Ser) rs749742502 0.00001
NM_022437.3(ABCG8):c.1762G>A (p.Ala588Thr) rs748833010 0.00001
NM_022437.3(ABCG8):c.176C>A (p.Ala59Asp) rs749036339 0.00001
NM_022437.3(ABCG8):c.593G>T (p.Arg198Met) rs777258651 0.00001
NM_022437.3(ABCG8):c.64G>A (p.Gly22Ser) rs373228989 0.00001
NM_022437.3(ABCG8):c.710A>T (p.Asp237Val) rs1163985023 0.00001
NM_022773.4(LMF1):c.373A>C (p.Asn125His) rs1323912190 0.00001
NM_024301.5(FKRP):c.-2C>A rs781231882 0.00001
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) rs1322997651 0.00001
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys) rs751676482 0.00001
NM_024301.5(FKRP):c.1061G>A (p.Gly354Glu) rs781414509 0.00001
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser) rs1184684815 0.00001
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile) rs1471167981 0.00001
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser) rs376989573 0.00001
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu) rs886044542 0.00001
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) rs747785577 0.00001
NM_024301.5(FKRP):c.1397G>A (p.Arg466His) rs763422045 0.00001
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg) rs373244438 0.00001
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) rs990847012 0.00001
NM_024301.5(FKRP):c.22G>A (p.Ala8Thr) rs1178928336 0.00001
NM_024301.5(FKRP):c.283C>T (p.Arg95Cys) rs767399675 0.00001
NM_024301.5(FKRP):c.315G>T (p.Gln105His) rs765444642 0.00001
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser) rs1164727838 0.00001
NM_024301.5(FKRP):c.32C>T (p.Ala11Val) rs760295001 0.00001
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile) rs1599935206 0.00001
NM_024301.5(FKRP):c.517G>A (p.Val173Ile) rs1322879846 0.00001
NM_024301.5(FKRP):c.551C>T (p.Ala184Val) rs1489408026 0.00001
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu) rs1320991574 0.00001
NM_024301.5(FKRP):c.845G>C (p.Gly282Ala) rs775795075 0.00001
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr) rs1201873802 0.00001
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met) rs754236206 0.00001
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp) rs765762863 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.235A>G (p.Ser79Gly) rs930770110 0.00001
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala) rs148171303 0.00001
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr) rs555913548 0.00001
NM_024334.3(TMEM43):c.344T>C (p.Leu115Pro) rs376182664 0.00001
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile) rs754381041 0.00001
NM_024334.3(TMEM43):c.401C>A (p.Thr134Asn) rs778405877 0.00001
NM_024334.3(TMEM43):c.500A>G (p.His167Arg) rs775986881 0.00001
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val) rs553757132 0.00001
NM_024334.3(TMEM43):c.606del (p.Phe203fs) rs753024549 0.00001
NM_024334.3(TMEM43):c.646G>A (p.Val216Met) rs143735210 0.00001
NM_024334.3(TMEM43):c.659G>A (p.Arg220His) rs570836197 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.751G>A (p.Asp251Asn) rs375481688 0.00001
NM_024334.3(TMEM43):c.973C>T (p.Leu325Phe) rs373644386 0.00001
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln) rs185611706 0.00001
NM_024422.6(DSC2):c.1024A>G (p.Ile342Val) rs746745677 0.00001
NM_024422.6(DSC2):c.1057C>A (p.Pro353Thr) rs999869714 0.00001
NM_024422.6(DSC2):c.1103C>T (p.Thr368Ile) rs538663626 0.00001
NM_024422.6(DSC2):c.1124G>A (p.Arg375Gln) rs770412621 0.00001
NM_024422.6(DSC2):c.1172C>A (p.Ala391Asp) rs1300215880 0.00001
NM_024422.6(DSC2):c.133G>A (p.Ala45Thr) rs1467311353 0.00001
NM_024422.6(DSC2):c.1402G>A (p.Gly468Ser) rs149316362 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.14G>T (p.Arg5Leu) rs899009158 0.00001
NM_024422.6(DSC2):c.1547G>A (p.Gly516Glu) rs1402893994 0.00001
NM_024422.6(DSC2):c.1577C>T (p.Ser526Leu) rs887847751 0.00001
NM_024422.6(DSC2):c.1579A>G (p.Ile527Val) rs756058875 0.00001
NM_024422.6(DSC2):c.1628G>A (p.Gly543Asp) rs977709312 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.1781T>C (p.Ile594Thr) rs915888072 0.00001
NM_024422.6(DSC2):c.1906T>G (p.Ser636Ala) rs1191039477 0.00001
NM_024422.6(DSC2):c.1916A>G (p.Asn639Ser) rs369281243 0.00001
NM_024422.6(DSC2):c.1996G>A (p.Val666Ile) rs758646191 0.00001
NM_024422.6(DSC2):c.2039G>T (p.Arg680Leu) rs374002111 0.00001
NM_024422.6(DSC2):c.2147G>C (p.Cys716Ser) rs764008863 0.00001
NM_024422.6(DSC2):c.2158G>C (p.Gly720Arg) rs1170934513 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.2318G>C (p.Gly773Ala) rs749174176 0.00001
NM_024422.6(DSC2):c.2328C>G (p.Ile776Met) rs1789054 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.2408A>G (p.His803Arg) rs150124218 0.00001
NM_024422.6(DSC2):c.2472G>A (p.Ser824=) rs374348925 0.00001
NM_024422.6(DSC2):c.2512G>A (p.Val838Met) rs1986695514 0.00001
NM_024422.6(DSC2):c.2623C>T (p.Arg875Ter) rs727504823 0.00001
NM_024422.6(DSC2):c.2642T>A (p.Leu881His) rs1231247825 0.00001
NM_024422.6(DSC2):c.267G>A (p.Ser89=) rs201363937 0.00001
NM_024422.6(DSC2):c.2692T>C (p.Cys898Arg) rs1027240725 0.00001
NM_024422.6(DSC2):c.325A>C (p.Ile109Leu) rs1256252633 0.00001
NM_024422.6(DSC2):c.355-3G>T rs975997446 0.00001
NM_024422.6(DSC2):c.363G>T (p.Lys121Asn) rs762877422 0.00001
NM_024422.6(DSC2):c.425G>C (p.Cys142Ser) rs1478081073 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.517A>T (p.Ile173Leu) rs766855728 0.00001
NM_024422.6(DSC2):c.697A>G (p.Ile233Val) rs886039077 0.00001
NM_024422.6(DSC2):c.746C>A (p.Thr249Asn) rs1987447409 0.00001
NM_024422.6(DSC2):c.769A>G (p.Arg257Gly) rs1253861748 0.00001
NM_024422.6(DSC2):c.872C>T (p.Ser291Leu) rs755952123 0.00001
NM_024422.6(DSC2):c.949G>A (p.Asp317Asn) rs769219956 0.00001
NM_030662.4(MAP2K2):c.1039A>G (p.Asn347Asp) rs1057518088 0.00001
NM_030662.4(MAP2K2):c.1061C>T (p.Pro354Leu) rs879819202 0.00001
NM_030662.4(MAP2K2):c.1064C>T (p.Ala355Val) rs768826287 0.00001
NM_030662.4(MAP2K2):c.26T>C (p.Leu9Pro) rs758307267 0.00001
NM_030662.4(MAP2K2):c.707C>T (p.Pro236Leu) rs1309234276 0.00001
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr) rs757240576 0.00001
NM_030662.4(MAP2K2):c.937C>T (p.Arg313Trp) rs772831628 0.00001
NM_030777.4(SLC2A10):c.1087C>G (p.Gln363Glu) rs886038934 0.00001
NM_030777.4(SLC2A10):c.1274T>C (p.Phe425Ser) rs546176728 0.00001
NM_032578.4(MYPN):c.1019C>G (p.Ser340Cys) rs777080663 0.00001
NM_032578.4(MYPN):c.1081G>T (p.Val361Phe) rs527628617 0.00001
NM_032578.4(MYPN):c.1109C>T (p.Pro370Leu) rs749986338 0.00001
NM_032578.4(MYPN):c.121C>T (p.Pro41Ser) rs759400657 0.00001
NM_032578.4(MYPN):c.1306G>A (p.Val436Met) rs1172083148 0.00001
NM_032578.4(MYPN):c.133G>C (p.Gly45Arg) rs1297861595 0.00001
NM_032578.4(MYPN):c.1452A>C (p.Leu484Phe) rs749716693 0.00001
NM_032578.4(MYPN):c.1550C>A (p.Ala517Glu) rs1052323892 0.00001
NM_032578.4(MYPN):c.1555A>G (p.Asn519Asp) rs768901494 0.00001
NM_032578.4(MYPN):c.1594G>A (p.Val532Met) rs760362375 0.00001
NM_032578.4(MYPN):c.1609G>T (p.Asp537Tyr) rs745748075 0.00001
NM_032578.4(MYPN):c.1672C>T (p.Pro558Ser) rs767709261 0.00001
NM_032578.4(MYPN):c.1681T>C (p.Ser561Pro) rs1554845447 0.00001
NM_032578.4(MYPN):c.1696G>C (p.Glu566Gln) rs1388806519 0.00001
NM_032578.4(MYPN):c.1771A>G (p.Ser591Gly) rs767800921 0.00001
NM_032578.4(MYPN):c.1879T>A (p.Ser627Thr) rs1282443178 0.00001
NM_032578.4(MYPN):c.1880C>T (p.Ser627Phe) rs762100810 0.00001
NM_032578.4(MYPN):c.1918C>T (p.Pro640Ser) rs908222513 0.00001
NM_032578.4(MYPN):c.2000A>G (p.His667Arg) rs2043186027 0.00001
NM_032578.4(MYPN):c.2114C>T (p.Thr705Ile) rs768471574 0.00001
NM_032578.4(MYPN):c.212A>G (p.Glu71Gly) rs1161067131 0.00001
NM_032578.4(MYPN):c.2134G>C (p.Ala712Pro) rs876657921 0.00001
NM_032578.4(MYPN):c.2200G>A (p.Ala734Thr) rs927839092 0.00001
NM_032578.4(MYPN):c.2221A>G (p.Ser741Gly) rs2043191140 0.00001
NM_032578.4(MYPN):c.2420T>C (p.Phe807Ser) rs760419556 0.00001
NM_032578.4(MYPN):c.2465G>A (p.Arg822Gln) rs372903698 0.00001
NM_032578.4(MYPN):c.2497G>A (p.Val833Ile) rs1406084738 0.00001
NM_032578.4(MYPN):c.2515G>A (p.Ala839Thr) rs752773452 0.00001
NM_032578.4(MYPN):c.2570C>T (p.Ser857Phe) rs376431940 0.00001
NM_032578.4(MYPN):c.2629C>T (p.Arg877Cys) rs764042082 0.00001
NM_032578.4(MYPN):c.271G>A (p.Ala91Thr) rs763043084 0.00001
NM_032578.4(MYPN):c.2764C>T (p.Arg922Cys) rs759367436 0.00001
NM_032578.4(MYPN):c.2802T>A (p.His934Gln) rs752426180 0.00001
NM_032578.4(MYPN):c.2834C>T (p.Pro945Leu) rs1477487826 0.00001
NM_032578.4(MYPN):c.2981T>C (p.Met994Thr) rs786205348 0.00001
NM_032578.4(MYPN):c.3017T>G (p.Ile1006Ser) rs864622711 0.00001
NM_032578.4(MYPN):c.3040G>A (p.Asp1014Asn) rs769591145 0.00001
NM_032578.4(MYPN):c.3060G>A (p.Met1020Ile) rs762642659 0.00001
NM_032578.4(MYPN):c.3086G>T (p.Ser1029Ile) rs142320290 0.00001
NM_032578.4(MYPN):c.3110A>G (p.Gln1037Arg) rs794729074 0.00001
NM_032578.4(MYPN):c.3136A>C (p.Thr1046Pro) rs374007615 0.00001
NM_032578.4(MYPN):c.3159-3T>C rs778831883 0.00001
NM_032578.4(MYPN):c.342G>C (p.Glu114Asp) rs1271454652 0.00001
NM_032578.4(MYPN):c.3433A>C (p.Lys1145Gln) rs768125215 0.00001
NM_032578.4(MYPN):c.3457G>A (p.Gly1153Arg) rs763805681 0.00001
NM_032578.4(MYPN):c.3544G>A (p.Gly1182Ser) rs777875865 0.00001
NM_032578.4(MYPN):c.3565G>A (p.Val1189Met) rs776313364 0.00001
NM_032578.4(MYPN):c.3593T>C (p.Met1198Thr) rs755560876 0.00001
NM_032578.4(MYPN):c.35T>C (p.Ile12Thr) rs869025490 0.00001
NM_032578.4(MYPN):c.3623A>G (p.Asp1208Gly) rs2043722325 0.00001
NM_032578.4(MYPN):c.3654G>C (p.Arg1218Ser) rs781011786 0.00001
NM_032578.4(MYPN):c.3734C>T (p.Thr1245Met) rs139138260 0.00001
NM_032578.4(MYPN):c.3757G>A (p.Gly1253Ser) rs1208726312 0.00001
NM_032578.4(MYPN):c.3853G>A (p.Gly1285Arg) rs750277122 0.00001
NM_032578.4(MYPN):c.3922T>C (p.Ser1308Pro) rs1279126604 0.00001
NM_032578.4(MYPN):c.3959T>C (p.Leu1320Pro) rs200646285 0.00001
NM_032578.4(MYPN):c.411G>C (p.Arg137Ser) rs751085897 0.00001
NM_032578.4(MYPN):c.47T>C (p.Leu16Pro) rs1241418398 0.00001
NM_032578.4(MYPN):c.611A>G (p.Glu204Gly) rs373095593 0.00001
NM_032578.4(MYPN):c.712G>A (p.Ala238Thr) rs755212697 0.00001
NM_032578.4(MYPN):c.725C>T (p.Ala242Val) rs1232532993 0.00001
NM_032578.4(MYPN):c.809G>T (p.Arg270Leu) rs1187626834 0.00001
NM_032578.4(MYPN):c.80G>C (p.Arg27Pro) rs529359915 0.00001
NM_032578.4(MYPN):c.827G>A (p.Arg276Gln) rs771703762 0.00001
NM_032578.4(MYPN):c.844G>A (p.Glu282Lys) rs1265232754 0.00001
NM_032578.4(MYPN):c.859C>A (p.Gln287Lys) rs2042258039 0.00001
NM_033337.3(CAV3):c.143C>G (p.Pro48Arg) rs1060502317 0.00001
NM_033337.3(CAV3):c.165del (p.Asp55fs) rs780411707 0.00001
NM_033337.3(CAV3):c.260T>C (p.Leu87Pro) rs28936685 0.00001
NM_033337.3(CAV3):c.65T>C (p.Ile22Thr) rs763666060 0.00001
NM_033337.3(CAV3):c.88A>T (p.Lys30Ter) rs730880425 0.00001
NM_033337.3(CAV3):c.89A>G (p.Lys30Arg) rs753431407 0.00001
NM_130468.4(CHST14):c.325C>T (p.Arg109Trp) rs201632751 0.00001
NM_130468.4(CHST14):c.439T>C (p.Tyr147His) rs775350610 0.00001
NM_130468.4(CHST14):c.548A>G (p.Asp183Gly) rs1595869476 0.00001
NM_130468.4(CHST14):c.8C>T (p.Pro3Leu) rs1389417786 0.00001
NM_130468.4(CHST14):c.919A>G (p.Asn307Asp) rs767533841 0.00001
NM_130468.4(CHST14):c.922C>A (p.Gln308Lys) rs373443856 0.00001
NM_144573.4(NEXN):c.1171C>T (p.Arg391Ter) rs200106758 0.00001
NM_144573.4(NEXN):c.1222T>C (p.Phe408Leu) rs794729083 0.00001
NM_144573.4(NEXN):c.1234A>G (p.Arg412Gly) rs768693715 0.00001
NM_144573.4(NEXN):c.1244T>C (p.Met415Thr) rs1172366391 0.00001
NM_144573.4(NEXN):c.1271C>T (p.Thr424Ile) rs200442502 0.00001
NM_144573.4(NEXN):c.1411C>T (p.Arg471Ter) rs777418673 0.00001
NM_144573.4(NEXN):c.1415C>G (p.Ala472Gly) rs539665448 0.00001
NM_144573.4(NEXN):c.1430T>C (p.Ile477Thr) rs727504658 0.00001
NM_144573.4(NEXN):c.1432G>A (p.Asp478Asn) rs1309129145 0.00001
NM_144573.4(NEXN):c.1498G>T (p.Ala500Ser) rs1193200803 0.00001
NM_144573.4(NEXN):c.1508G>A (p.Ser503Asn) rs1368415456 0.00001
NM_144573.4(NEXN):c.1528A>G (p.Lys510Glu) rs727504758 0.00001
NM_144573.4(NEXN):c.1640T>C (p.Ile547Thr) rs753636624 0.00001
NM_144573.4(NEXN):c.1642G>A (p.Asp548Asn) rs1404772841 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.1747T>C (p.Trp583Arg) rs1223656449 0.00001
NM_144573.4(NEXN):c.1771A>G (p.Thr591Ala) rs369019618 0.00001
NM_144573.4(NEXN):c.1805C>T (p.Thr602Met) rs756709134 0.00001
NM_144573.4(NEXN):c.1859A>G (p.Glu620Gly) rs748404504 0.00001
NM_144573.4(NEXN):c.185T>A (p.Ile62Asn) rs755012232 0.00001
NM_144573.4(NEXN):c.1889A>G (p.Tyr630Cys) rs769713624 0.00001
NM_144573.4(NEXN):c.1981G>A (p.Gly661Arg) rs876657929 0.00001
NM_144573.4(NEXN):c.2005C>T (p.Leu669Phe) rs774194309 0.00001
NM_144573.4(NEXN):c.2019T>A (p.Ser673Arg) rs539689450 0.00001
NM_144573.4(NEXN):c.328G>C (p.Glu110Gln) rs754671609 0.00001
NM_144573.4(NEXN):c.542C>T (p.Thr181Ile) rs764640427 0.00001
NM_144573.4(NEXN):c.620A>G (p.Asp207Gly) rs570946423 0.00001
NM_144573.4(NEXN):c.626G>T (p.Arg209Ile) rs1433269866 0.00001
NM_144573.4(NEXN):c.797C>G (p.Ala266Gly) rs1442572797 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_152594.3(SPRED1):c.1085G>A (p.Cys362Tyr) rs1255579349 0.00001
NM_152594.3(SPRED1):c.1301G>T (p.Gly434Val) rs746414913 0.00001
NM_152594.3(SPRED1):c.170A>G (p.Asp57Gly) rs959758606 0.00001
NM_152594.3(SPRED1):c.353G>A (p.Arg118Lys) rs373381933 0.00001
NM_152594.3(SPRED1):c.43G>A (p.Ala15Thr) rs753924528 0.00001
NM_152594.3(SPRED1):c.578A>G (p.Asn193Ser) rs766431294 0.00001
NM_152594.3(SPRED1):c.6C>A (p.Ser2Arg) rs775693385 0.00001
NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) rs749784223 0.00001
NM_170707.4(LMNA):c.1184C>T (p.Ser395Leu) rs267607561 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.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.1364G>A (p.Arg455His) rs267607597 0.00001
NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) rs200466188 0.00001
NM_170707.4(LMNA):c.1600A>T (p.Thr534Ser) rs1311820114 0.00001
NM_170707.4(LMNA):c.1601C>G (p.Thr534Ser) rs144740174 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.1774G>A (p.Gly592Arg) rs786205448 0.00001
NM_170707.4(LMNA):c.1814C>T (p.Ala605Val) rs1651866275 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.187A>C (p.Ile63Leu) rs899373360 0.00001
NM_170707.4(LMNA):c.191C>A (p.Thr64Asn) rs753191587 0.00001
NM_170707.4(LMNA):c.23G>A (p.Arg8His) rs1329278578 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.448A>G (p.Thr150Ala) rs58917027 0.00001
NM_170707.4(LMNA):c.466C>T (p.Arg156Cys) rs760743233 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.662G>A (p.Arg221His) rs372567202 0.00001
NM_170707.4(LMNA):c.718C>T (p.Arg240Trp) rs775964460 0.00001
NM_170707.4(LMNA):c.71C>T (p.Thr24Ile) rs1195524446 0.00001
NM_170707.4(LMNA):c.749C>T (p.Ala250Val) rs397517907 0.00001
NM_170707.4(LMNA):c.845G>A (p.Ser282Asn) rs1553265438 0.00001
NM_170707.4(LMNA):c.952G>A (p.Ala318Thr) rs267607574 0.00001
NM_170707.4(LMNA):c.991C>T (p.Arg331Trp) rs879253898 0.00001
NM_172201.2(KCNE2):c.17A>G (p.Asn6Ser) rs776661633 0.00001
NM_172201.2(KCNE2):c.242A>G (p.Asn81Ser) rs1434304789 0.00001
NM_172201.2(KCNE2):c.357C>A (p.Phe119Leu) rs139202426 0.00001
NM_172201.2(KCNE2):c.372A>G (p.Ter124Trp) rs1305783893 0.00001
NM_174934.4(SCN4B):c.115A>G (p.Thr39Ala) rs756210130 0.00001
NM_174934.4(SCN4B):c.259G>A (p.Glu87Lys) rs762777113 0.00001
NM_174934.4(SCN4B):c.281C>T (p.Thr94Met) rs768926261 0.00001
NM_174934.4(SCN4B):c.40T>G (p.Trp14Gly) rs946169910 0.00001
NM_174934.4(SCN4B):c.433G>A (p.Ala145Thr) rs771504011 0.00001
NM_174934.4(SCN4B):c.454G>A (p.Val152Ile) rs778247172 0.00001
NM_174934.4(SCN4B):c.649G>T (p.Gly217Cys) rs371609756 0.00001
NM_174936.4(PCSK9):c.100G>A (p.Glu34Lys) rs371030381 0.00001
NM_174936.4(PCSK9):c.103G>T (p.Asp35Tyr) rs764603059 0.00001
NM_174936.4(PCSK9):c.1169C>T (p.Ala390Val) rs1313288327 0.00001
NM_174936.4(PCSK9):c.1211C>T (p.Pro404Leu) rs140072072 0.00001
NM_174936.4(PCSK9):c.1371C>G (p.Cys457Trp) rs771108863 0.00001
NM_174936.4(PCSK9):c.1406G>A (p.Arg469Gln) rs1340689002 0.00001
NM_174936.4(PCSK9):c.1426C>T (p.Arg476Cys) rs761767572 0.00001
NM_174936.4(PCSK9):c.1475G>C (p.Ser492Thr) rs537114569 0.00001
NM_174936.4(PCSK9):c.1486C>T (p.Arg496Trp) rs374603772 0.00001
NM_174936.4(PCSK9):c.1529G>A (p.Arg510Gln) rs757804293 0.00001
NM_174936.4(PCSK9):c.1540G>A (p.Ala514Thr) rs1447116791 0.00001
NM_174936.4(PCSK9):c.1672G>A (p.Val558Ile) rs1277680499 0.00001
NM_174936.4(PCSK9):c.1807G>A (p.Ala603Thr) rs1245161747 0.00001
NM_174936.4(PCSK9):c.1850C>A (p.Ala617Asp) rs754936553 0.00001
NM_174936.4(PCSK9):c.1886G>A (p.Gly629Asp) rs1261496250 0.00001
NM_174936.4(PCSK9):c.2023G>A (p.Val675Ile) rs760981278 0.00001
NM_174936.4(PCSK9):c.2045G>A (p.Arg682Gln) rs758946245 0.00001
NM_174936.4(PCSK9):c.341T>C (p.Val114Ala) rs775988212 0.00001
NM_174936.4(PCSK9):c.34C>A (p.Pro12Thr) rs968023760 0.00001
NM_174936.4(PCSK9):c.404T>C (p.Leu135Ser) rs745916051 0.00001
NM_174936.4(PCSK9):c.478C>T (p.Arg160Trp) rs200505188 0.00001
NM_174936.4(PCSK9):c.503C>T (p.Ala168Val) rs770592607 0.00001
NM_174936.4(PCSK9):c.628G>A (p.Glu210Lys) rs1302868036 0.00001
NM_174936.4(PCSK9):c.70G>A (p.Gly24Ser) rs1479030404 0.00001
NM_174936.4(PCSK9):c.718G>A (p.Gly240Ser) rs751048732 0.00001
NM_174936.4(PCSK9):c.724G>A (p.Ala242Thr) rs1238510123 0.00001
NM_174936.4(PCSK9):c.743G>A (p.Arg248His) rs749573024 0.00001
NM_174936.4(PCSK9):c.77C>T (p.Ala26Val) rs1413443246 0.00001
NM_174936.4(PCSK9):c.839T>C (p.Val280Ala) rs1000735676 0.00001
NM_174936.4(PCSK9):c.914C>T (p.Ala305Val) rs1239236028 0.00001
NM_174936.4(PCSK9):c.961G>A (p.Asp321Asn) rs780509319 0.00001
NM_181486.4(TBX5):c.1084C>G (p.Gln362Glu) rs765204502 0.00001
NM_181486.4(TBX5):c.1124G>A (p.Arg375Gln) rs1486871388 0.00001
NM_181486.4(TBX5):c.1199C>T (p.Thr400Met) rs759766836 0.00001
NM_181486.4(TBX5):c.1208G>A (p.Ser403Asn) rs773568096 0.00001
NM_181486.4(TBX5):c.125C>T (p.Pro42Leu) rs759976245 0.00001
NM_181486.4(TBX5):c.1348C>G (p.Leu450Val) rs1243477560 0.00001
NM_181486.4(TBX5):c.781A>T (p.Ser261Cys) rs377625550 0.00001
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_181486.4(TBX5):c.950A>G (p.His317Arg) rs1869524074 0.00001
NM_201596.3(CACNB2):c.1056G>A (p.Ala352=) rs730880058 0.00001
NM_201596.3(CACNB2):c.1261G>A (p.Val421Ile) rs745337273 0.00001
NM_201596.3(CACNB2):c.1267A>T (p.Met423Leu) rs779536902 0.00001
NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr) rs1336353571 0.00001
NM_201596.3(CACNB2):c.1363G>A (p.Asp455Asn) rs780208478 0.00001
NM_201596.3(CACNB2):c.1509G>T (p.Arg503Ser) rs769682775 0.00001
NM_201596.3(CACNB2):c.1589A>C (p.His530Pro) rs1169230473 0.00001
NM_201596.3(CACNB2):c.1625G>A (p.Arg542His) rs571637787 0.00001
NM_201596.3(CACNB2):c.1747G>C (p.Ala583Pro) rs373826838 0.00001
NM_201596.3(CACNB2):c.1823G>A (p.Arg608His) rs771011929 0.00001
NM_201596.3(CACNB2):c.1828C>T (p.Arg610Trp) rs545095722 0.00001
NM_201596.3(CACNB2):c.1840C>T (p.Arg614Ter) rs775467558 0.00001
NM_201596.3(CACNB2):c.1873C>T (p.Arg625Cys) rs1060499847 0.00001
NM_201596.3(CACNB2):c.1912G>T (p.Asp638Tyr) rs142735478 0.00001
NM_201596.3(CACNB2):c.214-61000A>G rs762796116 0.00001
NM_201596.3(CACNB2):c.314C>G (p.Ala105Gly) rs375218580 0.00001
NM_201596.3(CACNB2):c.353C>T (p.Ala118Val) rs371859398 0.00001
NM_201596.3(CACNB2):c.358C>T (p.Arg120Trp) rs541253552 0.00001
NM_201596.3(CACNB2):c.410G>A (p.Gly137Asp) rs754596850 0.00001
NM_201596.3(CACNB2):c.424T>C (p.Phe142Leu) rs747658821 0.00001
NM_201596.3(CACNB2):c.448G>A (p.Val150Ile) rs1157722971 0.00001
NM_201596.3(CACNB2):c.503G>A (p.Cys168Tyr) rs773215003 0.00001
NM_201596.3(CACNB2):c.631A>G (p.Ile211Val) rs1344965960 0.00001
NM_201596.3(CACNB2):c.665C>T (p.Ser222Leu) rs761542420 0.00001
NM_201596.3(CACNB2):c.821C>T (p.Pro274Leu) rs767304274 0.00001
NM_000020.3(ACVRL1):c.1023C>G (p.Asn341Lys)
NM_000020.3(ACVRL1):c.1033T>C (p.Cys345Arg) rs1060503239
NM_000020.3(ACVRL1):c.1034G>A (p.Cys345Tyr) rs1592224431
NM_000020.3(ACVRL1):c.1036A>T (p.Ile346Phe)
NM_000020.3(ACVRL1):c.1042G>A (p.Asp348Asn)
NM_000020.3(ACVRL1):c.1048+5G>T
NM_000020.3(ACVRL1):c.104C>T (p.Thr35Met)
NM_000020.3(ACVRL1):c.1052T>C (p.Leu351Pro)
NM_000020.3(ACVRL1):c.1054G>A (p.Ala352Thr)
NM_000020.3(ACVRL1):c.107G>A (p.Cys36Tyr)
NM_000020.3(ACVRL1):c.1111G>A (p.Gly371Ser)
NM_000020.3(ACVRL1):c.1123T>A (p.Tyr375Asn)
NM_000020.3(ACVRL1):c.1123_1161dup (p.Thr387_Asp388insTyrMetAlaProGluValLeuAspGluGlnIleArgThr)
NM_000020.3(ACVRL1):c.112A>T (p.Ser38Cys)
NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val)
NM_000020.3(ACVRL1):c.1187C>T (p.Thr396Ile)
NM_000020.3(ACVRL1):c.1192A>T (p.Ile398Phe)
NM_000020.3(ACVRL1):c.1235C>A (p.Thr412Asn)
NM_000020.3(ACVRL1):c.1246+5G>A rs1940838881
NM_000020.3(ACVRL1):c.1261T>G (p.Tyr421Asp)
NM_000020.3(ACVRL1):c.1298C>T (p.Pro433Leu)
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=) rs61734312
NM_000020.3(ACVRL1):c.1414T>A (p.Trp472Arg)
NM_000020.3(ACVRL1):c.1414T>C (p.Trp472Arg)
NM_000020.3(ACVRL1):c.1416G>C (p.Trp472Cys) rs1060503243
NM_000020.3(ACVRL1):c.1438C>T (p.Leu480Phe)
NM_000020.3(ACVRL1):c.1442C>T (p.Thr481Ile)
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del) rs1940959480
NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly) rs2139064874
NM_000020.3(ACVRL1):c.154A>G (p.Thr52Ala) rs1131691346
NM_000020.3(ACVRL1):c.156AGT[1] (p.Val54del)
NM_000020.3(ACVRL1):c.158T>C (p.Val53Ala)
NM_000020.3(ACVRL1):c.214_219del (p.Leu72_His73del)
NM_000020.3(ACVRL1):c.241C>T (p.Pro81Ser)
NM_000020.3(ACVRL1):c.247G>A (p.Glu83Lys)
NM_000020.3(ACVRL1):c.259C>G (p.His87Asp) rs1430932447
NM_000020.3(ACVRL1):c.263A>G (p.Tyr88Cys) rs1940739692
NM_000020.3(ACVRL1):c.284G>A (p.Cys95Tyr)
NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.3(ACVRL1):c.299C>G (p.Ser100Cys)
NM_000020.3(ACVRL1):c.374C>G (p.Pro125Arg)
NM_000020.3(ACVRL1):c.423G>T (p.Trp141Cys)
NM_000020.3(ACVRL1):c.463A>C (p.Ser155Arg)
NM_000020.3(ACVRL1):c.466G>A (p.Glu156Lys)
NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys)
NM_000020.3(ACVRL1):c.538A>G (p.Ser180Gly)
NM_000020.3(ACVRL1):c.557G>T (p.Ser186Ile) rs1288729113
NM_000020.3(ACVRL1):c.589A>T (p.Thr197Ser)
NM_000020.3(ACVRL1):c.611T>C (p.Leu204Ser)
NM_000020.3(ACVRL1):c.649T>G (p.Trp217Gly)
NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del)
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.704A>G (p.Asp235Gly)
NM_000020.3(ACVRL1):c.767T>G (p.Ile256Ser)
NM_000020.3(ACVRL1):c.772+5G>A
NM_000020.3(ACVRL1):c.782C>A (p.Ala261Asp)
NM_000020.3(ACVRL1):c.850T>C (p.Ser284Pro)
NM_000020.3(ACVRL1):c.931G>C (p.Ala311Pro) rs565262730
NM_000020.3(ACVRL1):c.967A>G (p.Lys323Glu)
NM_000020.3(ACVRL1):c.977T>C (p.Ile326Thr)
NM_000020.3(ACVRL1):c.999C>A (p.Ser333Arg)
NM_000039.3(APOA1):c.148G>A (p.Gly50Ser)
NM_000039.3(APOA1):c.191A>G (p.Lys64Arg)
NM_000039.3(APOA1):c.233C>T (p.Thr78Ile)
NM_000039.3(APOA1):c.242T>A (p.Phe81Tyr) rs757011774
NM_000039.3(APOA1):c.256G>A (p.Glu86Lys)
NM_000039.3(APOA1):c.265G>A (p.Gly89Ser)
NM_000039.3(APOA1):c.332G>A (p.Ser111Asn)
NM_000039.3(APOA1):c.339T>G (p.Asp113Glu)
NM_000039.3(APOA1):c.367C>T (p.Pro123Ser)
NM_000039.3(APOA1):c.397C>G (p.Gln133Glu)
NM_000039.3(APOA1):c.43+3A>G
NM_000039.3(APOA1):c.480G>T (p.Glu160Asp) rs769548576
NM_000039.3(APOA1):c.485A>C (p.Gln162Pro)
NM_000039.3(APOA1):c.488A>G (p.Glu163Gly)
NM_000039.3(APOA1):c.494T>C (p.Leu165Pro)
NM_000039.3(APOA1):c.511G>A (p.Glu171Lys)
NM_000039.3(APOA1):c.523C>G (p.Arg175Gly)
NM_000039.3(APOA1):c.539T>C (p.Val180Ala)
NM_000039.3(APOA1):c.554C>T (p.Thr185Met)
NM_000039.3(APOA1):c.569A>G (p.Tyr190Cys)
NM_000039.3(APOA1):c.599C>T (p.Ala200Val)
NM_000039.3(APOA1):c.643G>A (p.Glu215Lys)
NM_000039.3(APOA1):c.703C>G (p.Leu235Val)
NM_000039.3(APOA1):c.724C>A (p.Leu242Met)
NM_000039.3(APOA1):c.752T>A (p.Val251Asp) rs760566805
NM_000039.3(APOA1):c.766G>A (p.Ala256Thr)
NM_000039.3(APOA1):c.772G>C (p.Glu258Gln)
NM_000039.3(APOA1):c.82C>T (p.Pro28Ser)
NM_000040.3(APOC3):c.116C>A (p.Ala39Asp)
NM_000040.3(APOC3):c.118A>G (p.Thr40Ala)
NM_000040.3(APOC3):c.13G>A (p.Val5Ile)
NM_000040.3(APOC3):c.171G>C (p.Gln57His)
NM_000040.3(APOC3):c.172C>A (p.Gln58Lys)
NM_000040.3(APOC3):c.175G>T (p.Ala59Ser)
NM_000040.3(APOC3):c.40C>T (p.Leu14Phe)
NM_000040.3(APOC3):c.70G>A (p.Glu24Lys)
NM_000040.3(APOC3):c.77C>T (p.Ala26Val)
NM_000040.3(APOC3):c.90_95dup (p.Phe31_Met32insIlePhe)
NM_000041.4(APOE):c.125A>C (p.Gln42Pro)
NM_000041.4(APOE):c.193G>T (p.Val65Leu)
NM_000041.4(APOE):c.214T>G (p.Ser72Ala)
NM_000041.4(APOE):c.281C>G (p.Ser94Trp)
NM_000041.4(APOE):c.296A>G (p.Gln99Arg)
NM_000041.4(APOE):c.310G>A (p.Ala104Thr)
NM_000041.4(APOE):c.356A>C (p.Gln119Pro)
NM_000041.4(APOE):c.362G>A (p.Arg121Gln)
NM_000041.4(APOE):c.370G>A (p.Ala124Thr)
NM_000041.4(APOE):c.484C>A (p.Leu162Met)
NM_000041.4(APOE):c.542A>T (p.Gln181Leu)
NM_000041.4(APOE):c.544G>C (p.Ala182Pro)
NM_000041.4(APOE):c.583A>T (p.Ile195Phe)
NM_000041.4(APOE):c.598G>C (p.Gly200Arg)
NM_000041.4(APOE):c.623T>G (p.Val208Gly)
NM_000041.4(APOE):c.625C>T (p.Arg209Trp)
NM_000041.4(APOE):c.638T>G (p.Val213Gly)
NM_000041.4(APOE):c.640G>A (p.Gly214Ser)
NM_000041.4(APOE):c.655C>G (p.Gln219Glu)
NM_000041.4(APOE):c.709G>A (p.Glu237Lys)
NM_000041.4(APOE):c.714G>C (p.Glu238Asp)
NM_000041.4(APOE):c.719G>A (p.Gly240Asp)
NM_000041.4(APOE):c.739C>G (p.Leu247Val)
NM_000041.4(APOE):c.767A>T (p.Glu256Val)
NM_000041.4(APOE):c.773G>A (p.Arg258His)
NM_000041.4(APOE):c.818A>G (p.Glu273Gly)
NM_000041.4(APOE):c.832C>T (p.Arg278Cys)
NM_000041.4(APOE):c.882G>T (p.Trp294Cys)
NM_000041.4(APOE):c.895G>C (p.Glu299Gln)
NM_000071.3(CBS):c.1436T>C (p.Val479Ala) rs886038933
NM_000088.4(COL1A1):c.1056+2T>C
NM_000088.4(COL1A1):c.1056+5G>C
NM_000088.4(COL1A1):c.106C>G (p.Pro36Ala)
NM_000088.4(COL1A1):c.1259C>G (p.Pro420Arg)
NM_000088.4(COL1A1):c.1664C>G (p.Pro555Arg) rs72648359
NM_000088.4(COL1A1):c.1822-3C>A
NM_000088.4(COL1A1):c.1951C>A (p.Pro651Thr)
NM_000088.4(COL1A1):c.1951C>T (p.Pro651Ser)
NM_000088.4(COL1A1):c.196G>C (p.Gly66Arg)
NM_000088.4(COL1A1):c.2005G>A (p.Ala669Thr) rs563598815
NM_000088.4(COL1A1):c.2029-5T>C
NM_000088.4(COL1A1):c.2050G>A (p.Glu684Lys)
NM_000088.4(COL1A1):c.2078C>T (p.Pro693Leu)
NM_000088.4(COL1A1):c.2257G>A (p.Ala753Thr) rs764478745
NM_000088.4(COL1A1):c.2323G>A (p.Ala775Thr)
NM_000088.4(COL1A1):c.2384C>T (p.Ala795Val)
NM_000088.4(COL1A1):c.2386C>T (p.Arg796Cys) rs751890158
NM_000088.4(COL1A1):c.251C>G (p.Ala84Gly) rs775095655
NM_000088.4(COL1A1):c.2557A>C (p.Ile853Leu)
NM_000088.4(COL1A1):c.2560-5del
NM_000088.4(COL1A1):c.3077G>A (p.Arg1026Gln)
NM_000088.4(COL1A1):c.3238C>T (p.Pro1080Ser)
NM_000088.4(COL1A1):c.3293A>G (p.Glu1098Gly)
NM_000088.4(COL1A1):c.334-5C>T rs115997082
NM_000088.4(COL1A1):c.3491C>A (p.Pro1164His)
NM_000088.4(COL1A1):c.3508C>T (p.Arg1170Cys) rs1373318649
NM_000088.4(COL1A1):c.3667G>A (p.Val1223Met)
NM_000088.4(COL1A1):c.3674G>A (p.Arg1225His)
NM_000088.4(COL1A1):c.3758A>G (p.Lys1253Arg)
NM_000088.4(COL1A1):c.3952_3954del (p.Pro1318del) rs1451296434
NM_000088.4(COL1A1):c.3981C>T (p.Gly1327=)
NM_000088.4(COL1A1):c.4180_4182del (p.Asn1394del)
NM_000088.4(COL1A1):c.4248+5G>C
NM_000088.4(COL1A1):c.429CCCCGGACC[1] (p.143PPG[3]) rs769867566
NM_000088.4(COL1A1):c.4363G>A (p.Gly1455Ser)
NM_000088.4(COL1A1):c.4383C>A (p.Val1461=)
NM_000088.4(COL1A1):c.71A>G (p.Glu24Gly)
NM_000088.4(COL1A1):c.750+3G>A
NM_000088.4(COL1A1):c.773C>G (p.Thr258Arg)
NM_000089.4(COL1A2):c.1107A>C (p.Gln369His)
NM_000089.4(COL1A2):c.115G>A (p.Gly39Arg)
NM_000089.4(COL1A2):c.1253_1255delinsTACCAGA (p.Gly418fs)
NM_000089.4(COL1A2):c.1285G>C (p.Ala429Pro)
NM_000089.4(COL1A2):c.133-5A>G
NM_000089.4(COL1A2):c.1420G>A (p.Asp474Asn)
NM_000089.4(COL1A2):c.1436C>T (p.Pro479Leu)
NM_000089.4(COL1A2):c.148C>A (p.Pro50Thr)
NM_000089.4(COL1A2):c.1501A>G (p.Thr501Ala)
NM_000089.4(COL1A2):c.1502C>A (p.Thr501Asn)
NM_000089.4(COL1A2):c.1727A>G (p.His576Arg)
NM_000089.4(COL1A2):c.1765-5T>C rs2115916781
NM_000089.4(COL1A2):c.1854T>A (p.Asp618Glu)
NM_000089.4(COL1A2):c.2005C>T (p.Pro669Ser)
NM_000089.4(COL1A2):c.2140C>A (p.Arg714Ser)
NM_000089.4(COL1A2):c.2381G>A (p.Arg794Gln)
NM_000089.4(COL1A2):c.2404-3T>C
NM_000089.4(COL1A2):c.2488C>T (p.Arg830Ter)
NM_000089.4(COL1A2):c.2524T>C (p.Phe842Leu)
NM_000089.4(COL1A2):c.254G>T (p.Gly85Val)
NM_000089.4(COL1A2):c.2554G>A (p.Ala852Thr)
NM_000089.4(COL1A2):c.2569C>T (p.Pro857Ser) rs150179964
NM_000089.4(COL1A2):c.2716C>T (p.Arg906Cys)
NM_000089.4(COL1A2):c.2821C>T (p.Gln941Ter)
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg) rs193922165
NM_000089.4(COL1A2):c.2835+3C>G
NM_000089.4(COL1A2):c.3089G>A (p.Gly1030Asp) rs1114167415
NM_000089.4(COL1A2):c.3157A>G (p.Arg1053Gly)
NM_000089.4(COL1A2):c.3226C>A (p.Pro1076Thr)
NM_000089.4(COL1A2):c.3387A>T (p.Arg1129Ser)
NM_000089.4(COL1A2):c.3407A>G (p.Asp1136Gly) rs745366015
NM_000089.4(COL1A2):c.3430A>C (p.Asn1144His) rs374282276
NM_000089.4(COL1A2):c.3496T>G (p.Leu1166Val)
NM_000089.4(COL1A2):c.3740C>A (p.Ser1247Tyr) rs763721360
NM_000089.4(COL1A2):c.3772C>T (p.Arg1258Cys) rs766273613
NM_000089.4(COL1A2):c.3865G>T (p.Ala1289Ser)
NM_000089.4(COL1A2):c.644C>G (p.Ala215Gly)
NM_000089.4(COL1A2):c.790A>G (p.Lys264Glu)
NM_000089.4(COL1A2):c.853G>T (p.Val285Leu)
NM_000089.4(COL1A2):c.916A>G (p.Thr306Ala)
NM_000089.4(COL1A2):c.932C>T (p.Ala311Val)
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu) rs886038816
NM_000090.4(COL3A1):c.2022+4G>A rs886038865
NM_000090.4(COL3A1):c.2519G>T (p.Gly840Val) rs886038895
NM_000090.4(COL3A1):c.2927T>C (p.Val976Ala) rs886038939
NM_000090.4(COL3A1):c.3205C>T (p.Pro1069Ser) rs200122671
NM_000116.5(TAFAZZIN):c.-4G>A
NM_000116.5(TAFAZZIN):c.136A>T (p.Asn46Tyr)
NM_000116.5(TAFAZZIN):c.142G>A (p.Glu48Lys)
NM_000116.5(TAFAZZIN):c.299C>T (p.Ala100Val) rs1569552722
NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)
NM_000116.5(TAFAZZIN):c.37C>T (p.Pro13Ser)
NM_000116.5(TAFAZZIN):c.541+3C>G rs1557193865
NM_000116.5(TAFAZZIN):c.542-3C>T
NM_000116.5(TAFAZZIN):c.571C>T (p.Arg191Cys)
NM_000116.5(TAFAZZIN):c.613C>T (p.Leu205Phe)
NM_000116.5(TAFAZZIN):c.67G>A (p.Val23Ile)
NM_000116.5(TAFAZZIN):c.689G>T (p.Arg230Leu)
NM_000116.5(TAFAZZIN):c.800C>T (p.Thr267Met) rs1557194504
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) rs782507902
NM_000117.3(EMD):c.176A>G (p.Tyr59Cys) rs2148128196
NM_000117.3(EMD):c.18T>A (p.Asp6Glu)
NM_000117.3(EMD):c.206G>A (p.Gly69Glu)
NM_000117.3(EMD):c.264G>C (p.Lys88Asn)
NM_000117.3(EMD):c.302C>G (p.Thr101Ser)
NM_000117.3(EMD):c.317G>A (p.Gly106Glu) rs1312994862
NM_000117.3(EMD):c.325G>C (p.Glu109Gln)
NM_000117.3(EMD):c.396C>A (p.His132Gln) rs145985318
NM_000117.3(EMD):c.400-3C>T
NM_000117.3(EMD):c.425C>T (p.Ser142Phe) rs2067882775
NM_000117.3(EMD):c.449+3G>A
NM_000117.3(EMD):c.449+4C>T rs886044810
NM_000117.3(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.3(EMD):c.490A>C (p.Ile164Leu) rs2067884058
NM_000117.3(EMD):c.495G>T (p.Thr165=) rs151074632
NM_000117.3(EMD):c.497A>G (p.His166Arg) rs1016943599
NM_000117.3(EMD):c.500A>G (p.Tyr167Cys) rs2067884177
NM_000117.3(EMD):c.513A>G (p.Ser171=)
NM_000117.3(EMD):c.548C>G (p.Pro183Arg)
NM_000117.3(EMD):c.671C>G (p.Pro224Arg)
NM_000117.3(EMD):c.715C>T (p.Leu239Phe) rs2067886585
NM_000117.3(EMD):c.77T>C (p.Val26Ala) rs727505029
NM_000117.3(EMD):c.92G>T (p.Arg31Leu) rs2148128120
NM_000117.3(EMD):c.97C>G (p.Leu33Val)
NM_000138.5(FBN1):c.3962C>T (p.Thr1321Ile) rs750219182
NM_000138.5(FBN1):c.412A>C (p.Lys138Gln) rs886038937
NM_000138.5(FBN1):c.4985C>A (p.Thr1662Lys) rs886038924
NM_000138.5(FBN1):c.5619T>G (p.Tyr1873Ter) rs886038772
NM_000138.5(FBN1):c.5725A>C (p.Ile1909Leu) rs886038785
NM_000138.5(FBN1):c.5981G>C (p.Gly1994Ala) rs1484900122
NM_000138.5(FBN1):c.6068T>C (p.Ile2023Thr) rs363803
NM_000138.5(FBN1):c.719G>A (p.Arg240His) rs768744583
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.8080C>G (p.Arg2694Gly) rs200309328
NM_000138.5(FBN1):c.8099C>T (p.Pro2700Leu) rs886038782
NM_000152.5(GAA):c.1045A>G (p.Ser349Gly)
NM_000152.5(GAA):c.1069G>T (p.Val357Phe) rs754449703
NM_000152.5(GAA):c.1192C>A (p.Leu398Met) rs369707231
NM_000152.5(GAA):c.1296C>A (p.His432Gln)
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) rs143491365
NM_000152.5(GAA):c.1637-4_1637-3delinsG
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala) rs2039246325
NM_000152.5(GAA):c.1657C>A (p.Gln553Lys)
NM_000152.5(GAA):c.1720C>T (p.Leu574Phe)
NM_000152.5(GAA):c.1743C>T (p.Ile581=) rs527970795
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu) rs377126280
NM_000152.5(GAA):c.2122C>G (p.His708Asp) rs149916476
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn) rs553430197
NM_000152.5(GAA):c.2215A>T (p.Thr739Ser) rs578245757
NM_000152.5(GAA):c.2218G>A (p.Val740Met) rs752122499
NM_000152.5(GAA):c.2272G>T (p.Ala758Ser)
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe) rs372800172
NM_000152.5(GAA):c.2336C>A (p.Pro779Gln)
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr) rs2039384789
NM_000152.5(GAA):c.2366C>G (p.Pro789Arg)
NM_000152.5(GAA):c.2431C>G (p.Leu811Val)
NM_000152.5(GAA):c.2444A>T (p.Asn815Ile)
NM_000152.5(GAA):c.2465A>G (p.Tyr822Cys)
NM_000152.5(GAA):c.2574C>G (p.Phe858Leu)
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala) rs951742543
NM_000152.5(GAA):c.2602C>G (p.Leu868Val)
NM_000152.5(GAA):c.2609G>C (p.Arg870Pro)
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro) rs199524847
NM_000152.5(GAA):c.2818T>G (p.Ser940Ala)
NM_000152.5(GAA):c.511G>C (p.Val171Leu)
NM_000152.5(GAA):c.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.837G>T (p.Trp279Cys)
NM_000169.3(GLA):c.1022A>C (p.Glu341Ala)
NM_000169.3(GLA):c.1046G>C (p.Trp349Ser) rs869312218
NM_000169.3(GLA):c.1059G>A (p.Met353Ile)
NM_000169.3(GLA):c.1102G>A (p.Ala368Thr) rs144994244
NM_000169.3(GLA):c.1238T>C (p.Val413Ala)
NM_000169.3(GLA):c.1255A>G (p.Asn419Asp) rs879254061
NM_000169.3(GLA):c.1285_1289del (p.Leu429fs)
NM_000169.3(GLA):c.17C>G (p.Pro6Arg) rs1928600137
NM_000169.3(GLA):c.239G>A (p.Gly80Asp) rs781838005
NM_000169.3(GLA):c.317T>C (p.Leu106Pro)
NM_000169.3(GLA):c.344A>C (p.His115Pro) rs1928402204
NM_000169.3(GLA):c.369+3G>A rs1333591942
NM_000169.3(GLA):c.369+4A>T
NM_000169.3(GLA):c.475T>C (p.Phe159Leu) rs1928321516
NM_000169.3(GLA):c.476T>A (p.Phe159Tyr)
NM_000169.3(GLA):c.491T>C (p.Val164Ala)
NM_000169.3(GLA):c.525C>A (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.525C>G (p.Asp175Glu) rs782722844
NM_000169.3(GLA):c.540G>C (p.Leu180Phe)
NM_000169.3(GLA):c.574A>T (p.Asn192Tyr) rs1555985569
NM_000169.3(GLA):c.616C>T (p.Leu206Phe) rs730880448
NM_000169.3(GLA):c.624G>A (p.Met208Ile)
NM_000169.3(GLA):c.662A>G (p.Gln221Arg)
NM_000169.3(GLA):c.70T>A (p.Trp24Arg) rs397515871
NM_000169.3(GLA):c.74A>T (p.Asp25Val)
NM_000169.3(GLA):c.796G>C (p.Asp266His)
NM_000169.3(GLA):c.829T>G (p.Trp277Gly) rs727504372
NM_000169.3(GLA):c.947T>C (p.Val316Ala) rs869312157
NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu) rs1057518537
NM_000214.3(JAG1):c.1022T>C (p.Leu341Pro)
NM_000214.3(JAG1):c.1181A>G (p.Asn394Ser)
NM_000214.3(JAG1):c.1238C>T (p.Ala413Val)
NM_000214.3(JAG1):c.1274A>G (p.Lys425Arg)
NM_000214.3(JAG1):c.1283A>G (p.Lys428Arg)
NM_000214.3(JAG1):c.1330G>A (p.Gly444Ser)
NM_000214.3(JAG1):c.1330G>C (p.Gly444Arg)
NM_000214.3(JAG1):c.1352T>A (p.Ile451Asn) rs1178459436
NM_000214.3(JAG1):c.1372T>C (p.Cys458Arg)
NM_000214.3(JAG1):c.1388C>T (p.Ser463Phe)
NM_000214.3(JAG1):c.1393C>T (p.Arg465Trp) rs937263997
NM_000214.3(JAG1):c.142G>A (p.Glu48Lys)
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser)
NM_000214.3(JAG1):c.1465G>A (p.Asp489Asn) rs370107709
NM_000214.3(JAG1):c.1591C>A (p.Pro531Thr)
NM_000214.3(JAG1):c.1654C>G (p.Pro552Ala)
NM_000214.3(JAG1):c.1706C>G (p.Thr569Arg)
NM_000214.3(JAG1):c.1712C>A (p.Pro571His)
NM_000214.3(JAG1):c.182C>T (p.Pro61Leu)
NM_000214.3(JAG1):c.190C>T (p.Arg64Cys)
NM_000214.3(JAG1):c.1915A>G (p.Arg639Gly)
NM_000214.3(JAG1):c.1936G>A (p.Asp646Asn)
NM_000214.3(JAG1):c.2005A>G (p.Asn669Asp)
NM_000214.3(JAG1):c.202C>T (p.Arg68Cys)
NM_000214.3(JAG1):c.2065T>C (p.Phe689Leu)
NM_000214.3(JAG1):c.2132A>T (p.Glu711Val)
NM_000214.3(JAG1):c.2290G>A (p.Glu764Lys)
NM_000214.3(JAG1):c.2300C>A (p.Thr767Lys)
NM_000214.3(JAG1):c.2446G>A (p.Asp816Asn)
NM_000214.3(JAG1):c.2489C>T (p.Ala830Val)
NM_000214.3(JAG1):c.2510A>T (p.Asp837Val)
NM_000214.3(JAG1):c.2515A>T (p.Ile839Phe)
NM_000214.3(JAG1):c.2557G>A (p.Ala853Thr)
NM_000214.3(JAG1):c.2652G>T (p.Gln884His)
NM_000214.3(JAG1):c.2665C>G (p.Arg889Gly)
NM_000214.3(JAG1):c.2665C>T (p.Arg889Trp) rs765431150
NM_000214.3(JAG1):c.2752A>G (p.Ile918Val) rs773431867
NM_000214.3(JAG1):c.2765A>G (p.Asp922Gly)
NM_000214.3(JAG1):c.2809C>T (p.Arg937Trp) rs779410593
NM_000214.3(JAG1):c.2858A>G (p.Tyr953Cys)
NM_000214.3(JAG1):c.2926A>G (p.Thr976Ala)
NM_000214.3(JAG1):c.2959A>T (p.Asn987Tyr)
NM_000214.3(JAG1):c.2962A>G (p.Ile988Val)
NM_000214.3(JAG1):c.2978C>T (p.Ser993Phe)
NM_000214.3(JAG1):c.3007G>C (p.Glu1003Gln) rs781509375
NM_000214.3(JAG1):c.3083T>C (p.Ile1028Thr)
NM_000214.3(JAG1):c.3097G>A (p.Asp1033Asn)
NM_000214.3(JAG1):c.3112C>A (p.Leu1038Ile)
NM_000214.3(JAG1):c.3112C>G (p.Leu1038Val)
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys)
NM_000214.3(JAG1):c.3169G>A (p.Val1057Ile)
NM_000214.3(JAG1):c.3169G>C (p.Val1057Leu)
NM_000214.3(JAG1):c.3209T>C (p.Val1070Ala)
NM_000214.3(JAG1):c.3226G>A (p.Val1076Ile)
NM_000214.3(JAG1):c.3265T>C (p.Phe1089Leu)
NM_000214.3(JAG1):c.3284A>G (p.Lys1095Arg)
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn)
NM_000214.3(JAG1):c.3329A>G (p.Asn1110Ser) rs150811951
NM_000214.3(JAG1):c.335G>A (p.Ser112Asn)
NM_000214.3(JAG1):c.3431C>G (p.Ser1144Cys)
NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly)
NM_000214.3(JAG1):c.3510T>G (p.Phe1170Leu)
NM_000214.3(JAG1):c.3538G>A (p.Asp1180Asn)
NM_000214.3(JAG1):c.3545A>T (p.Glu1182Val)
NM_000214.3(JAG1):c.3579C>G (p.His1193Gln)
NM_000214.3(JAG1):c.3581C>T (p.Pro1194Leu)
NM_000214.3(JAG1):c.3617A>T (p.Glu1206Val)
NM_000214.3(JAG1):c.3653T>A (p.Val1218Glu)
NM_000214.3(JAG1):c.38C>A (p.Pro13His)
NM_000214.3(JAG1):c.406G>T (p.Val136Leu)
NM_000214.3(JAG1):c.428A>T (p.Asn143Ile)
NM_000214.3(JAG1):c.524G>T (p.Gly175Val) rs2122623743
NM_000214.3(JAG1):c.566A>G (p.Asp189Gly)
NM_000214.3(JAG1):c.59T>C (p.Leu20Pro) rs1568807442
NM_000214.3(JAG1):c.5G>A (p.Arg2His)
NM_000214.3(JAG1):c.62T>C (p.Leu21Pro) rs876660977
NM_000214.3(JAG1):c.635G>C (p.Cys212Ser)
NM_000214.3(JAG1):c.651C>A (p.Asn217Lys)
NM_000214.3(JAG1):c.709G>A (p.Gly237Ser)
NM_000214.3(JAG1):c.719C>T (p.Pro240Leu)
NM_000214.3(JAG1):c.775G>A (p.Gly259Ser)
NM_000214.3(JAG1):c.77C>T (p.Ala26Val)
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr) rs1568798248
NM_000214.3(JAG1):c.89G>A (p.Gly30Glu)
NM_000214.3(JAG1):c.925G>C (p.Gly309Arg) rs750195672
NM_000218.3(KCNQ1):c.-3G>A
NM_000218.3(KCNQ1):c.-3G>C
NM_000218.3(KCNQ1):c.-4C>A
NM_000218.3(KCNQ1):c.1021G>A (p.Ala341Thr)
NM_000218.3(KCNQ1):c.1032+3A>G
NM_000218.3(KCNQ1):c.1073A>C (p.Lys358Thr)
NM_000218.3(KCNQ1):c.1128+5G>C
NM_000218.3(KCNQ1):c.1138A>G (p.Arg380Gly) rs199472770
NM_000218.3(KCNQ1):c.1162G>A (p.Asp388Asn) rs537637760
NM_000218.3(KCNQ1):c.1165TCC[3] (p.Ser390_Thr391insSer) rs1064793160
NM_000218.3(KCNQ1):c.1171A>C (p.Thr391Pro)
NM_000218.3(KCNQ1):c.1193A>G (p.Lys398Arg) rs199472777
NM_000218.3(KCNQ1):c.1196C>G (p.Ala399Gly) rs876657836
NM_000218.3(KCNQ1):c.1211C>T (p.Thr404Ile)
NM_000218.3(KCNQ1):c.1259A>G (p.Lys420Arg)
NM_000218.3(KCNQ1):c.1290_1301del (p.Val431_Gly434del) rs750178990
NM_000218.3(KCNQ1):c.1327A>G (p.Ile443Val) rs1848631038
NM_000218.3(KCNQ1):c.1340C>A (p.Pro447His) rs143149582
NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln) rs12720449
NM_000218.3(KCNQ1):c.1355G>T (p.Arg452Leu) rs145229963
NM_000218.3(KCNQ1):c.1420G>T (p.Val474Leu)
NM_000218.3(KCNQ1):c.1426A>G (p.Met476Val) rs794728529
NM_000218.3(KCNQ1):c.1439T>C (p.Met480Thr)
NM_000218.3(KCNQ1):c.1457C>T (p.Ala486Val)
NM_000218.3(KCNQ1):c.1464CCTGGA[3] (p.Leu491_Glu492insAspLeu) rs1254052516
NM_000218.3(KCNQ1):c.1478G>C (p.Gly493Ala)
NM_000218.3(KCNQ1):c.152A>G (p.Tyr51Cys)
NM_000218.3(KCNQ1):c.1537A>G (p.Thr513Ala)
NM_000218.3(KCNQ1):c.1578G>T (p.Lys526Asn) rs1554919483
NM_000218.3(KCNQ1):c.1591-4G>T rs555518358
NM_000218.3(KCNQ1):c.1595C>T (p.Ala532Val) rs867549263
NM_000218.3(KCNQ1):c.1603C>A (p.Pro535Thr) rs2133989242
NM_000218.3(KCNQ1):c.160ATCGCGCCC[3] (p.Pro56_Gly57insIleAlaProIleAlaPro)
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.1670A>G (p.Lys557Arg)
NM_000218.3(KCNQ1):c.1685+3G>A
NM_000218.3(KCNQ1):c.1703G>A (p.Gly568Glu)
NM_000218.3(KCNQ1):c.1720A>G (p.Ile574Val) rs761947465
NM_000218.3(KCNQ1):c.1724C>T (p.Ser575Phe)
NM_000218.3(KCNQ1):c.172G>A (p.Ala58Thr)
NM_000218.3(KCNQ1):c.1738A>G (p.Ser580Gly)
NM_000218.3(KCNQ1):c.175C>G (p.Pro59Ala) rs1554958059
NM_000218.3(KCNQ1):c.1768G>C (p.Ala590Pro) rs199472813
NM_000218.3(KCNQ1):c.1779C>G (p.Asn593Lys) rs1421636319
NM_000218.3(KCNQ1):c.1785AGA[1] (p.Glu596del)
NM_000218.3(KCNQ1):c.1794+3A>T
NM_000218.3(KCNQ1):c.1794G>A (p.Lys598=) rs794728539
NM_000218.3(KCNQ1):c.1819G>T (p.Ala607Ser)
NM_000218.3(KCNQ1):c.1822C>G (p.Leu608Val) rs1554932663
NM_000218.3(KCNQ1):c.1826T>A (p.Ile609Asn)
NM_000218.3(KCNQ1):c.1841A>T (p.His614Leu)
NM_000218.3(KCNQ1):c.1862G>A (p.Gly621Asp) rs1590130205
NM_000218.3(KCNQ1):c.1922C>T (p.Pro641Leu)
NM_000218.3(KCNQ1):c.192_221del (p.Ala65_Pro74del) rs781335353
NM_000218.3(KCNQ1):c.1987G>A (p.Glu663Lys)
NM_000218.3(KCNQ1):c.1990C>T (p.Gln664Ter)
NM_000218.3(KCNQ1):c.2023G>A (p.Gly675Arg)
NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1]) rs397508107
NM_000218.3(KCNQ1):c.202GCCGCGCCC[3] (p.68AAP[3]) rs397508107
NM_000218.3(KCNQ1):c.209C>T (p.Pro70Leu)
NM_000218.3(KCNQ1):c.275C>G (p.Ser92Cys) rs752170852
NM_000218.3(KCNQ1):c.293G>A (p.Arg98His)
NM_000218.3(KCNQ1):c.296C>G (p.Pro99Arg) rs370435862
NM_000218.3(KCNQ1):c.31G>A (p.Glu11Lys) rs959449103
NM_000218.3(KCNQ1):c.383C>T (p.Ala128Val)
NM_000218.3(KCNQ1):c.420C>A (p.Ser140Arg)
NM_000218.3(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.3(KCNQ1):c.467T>G (p.Leu156Arg)
NM_000218.3(KCNQ1):c.511T>C (p.Tyr171His) rs1848317948
NM_000218.3(KCNQ1):c.542G>A (p.Arg181His)
NM_000218.3(KCNQ1):c.553G>C (p.Val185Leu) rs749351255
NM_000218.3(KCNQ1):c.566G>C (p.Gly189Ala)
NM_000218.3(KCNQ1):c.581C>T (p.Ala194Val) rs2133727494
NM_000218.3(KCNQ1):c.586A>C (p.Lys196Gln) rs1589956747
NM_000218.3(KCNQ1):c.598A>G (p.Ile200Val)
NM_000218.3(KCNQ1):c.605-5C>T
NM_000218.3(KCNQ1):c.629T>C (p.Met210Thr) rs886038994
NM_000218.3(KCNQ1):c.683+4C>T rs554698776
NM_000218.3(KCNQ1):c.684-4G>A rs750965939
NM_000218.3(KCNQ1):c.701A>G (p.Gln234Arg) rs794728570
NM_000218.3(KCNQ1):c.797T>G (p.Leu266Arg) rs199473460
NM_000218.3(KCNQ1):c.800A>T (p.Tyr267Phe) rs886039033
NM_000218.3(KCNQ1):c.847G>T (p.Ala283Ser)
NM_000218.3(KCNQ1):c.848C>T (p.Ala283Val)
NM_000218.3(KCNQ1):c.850_852del (p.Glu284del) rs1064796353
NM_000218.3(KCNQ1):c.851A>G (p.Glu284Gly) rs1848362105
NM_000218.3(KCNQ1):c.860C>T (p.Ala287Val) rs199472735
NM_000218.3(KCNQ1):c.86G>T (p.Gly29Val)
NM_000218.3(KCNQ1):c.889G>C (p.Gly297Arg) rs34320941
NM_000218.3(KCNQ1):c.894C>A (p.Ser298Arg)
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000218.3(KCNQ1):c.922-3C>A rs794728515
NM_000218.3(KCNQ1):c.970G>T (p.Val324Phe) rs1848536066
NM_000218.3(KCNQ1):c.989C>A (p.Ser330Tyr)
NM_000219.6(KCNE1):c.106C>T (p.Arg36Cys) rs372398235
NM_000219.6(KCNE1):c.108_109delinsGG (p.Ser37Gly) rs886044294
NM_000219.6(KCNE1):c.112_113delinsGA (p.Ser38Asp) rs1064795410
NM_000219.6(KCNE1):c.123G>C (p.Lys41Asn) rs763754260
NM_000219.6(KCNE1):c.140T>C (p.Val47Ala)
NM_000219.6(KCNE1):c.148G>A (p.Val50Ile)
NM_000219.6(KCNE1):c.191G>T (p.Ser64Ile) rs1382168637
NM_000219.6(KCNE1):c.205A>G (p.Lys69Glu)
NM_000219.6(KCNE1):c.208A>C (p.Lys70Gln) rs1568836235
NM_000219.6(KCNE1):c.221C>G (p.Ser74Trp) rs74315446
NM_000219.6(KCNE1):c.244A>G (p.Ile82Val)
NM_000219.6(KCNE1):c.246C>G (p.Ile82Met)
NM_000219.6(KCNE1):c.247_248delinsAC (p.Glu83Thr)
NM_000219.6(KCNE1):c.280T>C (p.Tyr94His)
NM_000219.6(KCNE1):c.287A>G (p.Gln96Arg) rs767972997
NM_000219.6(KCNE1):c.335A>G (p.His112Arg) rs1352531511
NM_000219.6(KCNE1):c.341C>T (p.Ala114Val)
NM_000219.6(KCNE1):c.347A>C (p.Glu116Ala) rs1235182008
NM_000219.6(KCNE1):c.66G>T (p.Gln22His)
NM_000219.6(KCNE1):c.91G>A (p.Ala31Thr)
NM_000229.2(LCAT):c.1054G>A (p.Asp352Asn)
NM_000229.2(LCAT):c.1073C>T (p.Thr358Met)
NM_000229.2(LCAT):c.1088T>A (p.Val363Glu)
NM_000229.2(LCAT):c.1163C>T (p.Pro388Leu)
NM_000229.2(LCAT):c.116A>G (p.Lys39Arg)
NM_000229.2(LCAT):c.118G>C (p.Ala40Pro)
NM_000229.2(LCAT):c.136A>T (p.Thr46Ser)
NM_000229.2(LCAT):c.203A>G (p.Asp68Gly)
NM_000229.2(LCAT):c.227G>A (p.Arg76His)
NM_000229.2(LCAT):c.259G>T (p.Asp87Tyr)
NM_000229.2(LCAT):c.364A>G (p.Ile122Val)
NM_000229.2(LCAT):c.370G>A (p.Val124Ile)
NM_000229.2(LCAT):c.409G>A (p.Asp137Asn)
NM_000229.2(LCAT):c.584A>G (p.Tyr195Cys)
NM_000229.2(LCAT):c.623G>C (p.Cys208Ser)
NM_000229.2(LCAT):c.661G>A (p.Ala221Thr)
NM_000229.2(LCAT):c.734T>G (p.Leu245Arg)
NM_000229.2(LCAT):c.781A>T (p.Ile261Phe)
NM_000229.2(LCAT):c.838C>T (p.Arg280Cys)
NM_000229.2(LCAT):c.839G>A (p.Arg280His)
NM_000229.2(LCAT):c.862G>A (p.Val288Met)
NM_000229.2(LCAT):c.863T>C (p.Val288Ala)
NM_000229.2(LCAT):c.867C>A (p.Phe289Leu)
NM_000229.2(LCAT):c.898C>T (p.Arg300Cys)
NM_000229.2(LCAT):c.899G>A (p.Arg300His)
NM_000229.2(LCAT):c.925C>G (p.Leu309Val)
NM_000229.2(LCAT):c.965G>A (p.Arg322His)
NM_000229.2(LCAT):c.980G>T (p.Gly327Val)
NM_000235.4(LIPA):c.1007C>T (p.Pro336Leu)
NM_000235.4(LIPA):c.1039C>A (p.Leu347Ile) rs1455189146
NM_000235.4(LIPA):c.1048G>C (p.Val350Leu)
NM_000235.4(LIPA):c.105G>A (p.Met35Ile)
NM_000235.4(LIPA):c.1072A>C (p.Thr358Pro)
NM_000235.4(LIPA):c.1085A>G (p.Asn362Ser)
NM_000235.4(LIPA):c.1103G>A (p.Ser368Asn)
NM_000235.4(LIPA):c.1108C>G (p.Pro370Ala)
NM_000235.4(LIPA):c.1133T>C (p.Ile378Thr) rs778013279
NM_000235.4(LIPA):c.1155G>C (p.Trp385Cys)
NM_000235.4(LIPA):c.116A>T (p.Glu39Val)
NM_000235.4(LIPA):c.1185G>A (p.Met395Ile) rs1842600141
NM_000235.4(LIPA):c.128A>G (p.Tyr43Cys)
NM_000235.4(LIPA):c.152A>G (p.Tyr51Cys)
NM_000235.4(LIPA):c.194G>A (p.Arg65Gln)
NM_000235.4(LIPA):c.220T>C (p.Ser74Pro)
NM_000235.4(LIPA):c.302A>G (p.Asn101Ser)
NM_000235.4(LIPA):c.332C>A (p.Ala111Asp)
NM_000235.4(LIPA):c.343G>A (p.Val115Met)
NM_000235.4(LIPA):c.379C>G (p.Arg127Gly)
NM_000235.4(LIPA):c.440T>C (p.Met147Thr)
NM_000235.4(LIPA):c.511G>T (p.Val171Leu)
NM_000235.4(LIPA):c.517C>T (p.His173Tyr)
NM_000235.4(LIPA):c.588G>A (p.Met196Ile)
NM_000235.4(LIPA):c.690C>A (p.Asp230Glu)
NM_000235.4(LIPA):c.724T>C (p.Trp242Arg)
NM_000235.4(LIPA):c.733A>T (p.Thr245Ser)
NM_000235.4(LIPA):c.749A>C (p.His250Pro) rs747792993
NM_000235.4(LIPA):c.749A>G (p.His250Arg)
NM_000235.4(LIPA):c.832G>A (p.Asp278Asn)
NM_000235.4(LIPA):c.898G>A (p.Val300Ile)
NM_000235.4(LIPA):c.904T>G (p.Phe302Val) rs1187189503
NM_000235.4(LIPA):c.91C>G (p.Pro31Ala)
NM_000235.4(LIPA):c.945G>T (p.Lys315Asn)
NM_000235.4(LIPA):c.955C>T (p.His319Tyr)
NM_000235.4(LIPA):c.999G>A (p.Met333Ile)
NM_000237.3(LPL):c.1033G>A (p.Val345Ile)
NM_000237.3(LPL):c.1049C>T (p.Ser350Phe)
NM_000237.3(LPL):c.1115A>C (p.Glu372Ala)
NM_000237.3(LPL):c.1158T>G (p.Asn386Lys)
NM_000237.3(LPL):c.1201G>C (p.Glu401Gln) rs150009614
NM_000237.3(LPL):c.1234G>C (p.Asp412His)
NM_000237.3(LPL):c.1273G>A (p.Gly425Ser)
NM_000237.3(LPL):c.128T>A (p.Leu43Gln)
NM_000237.3(LPL):c.1294A>G (p.Arg432Gly)
NM_000237.3(LPL):c.1365A>T (p.Lys455Asn)
NM_000237.3(LPL):c.1371G>C (p.Lys457Asn)
NM_000237.3(LPL):c.1372G>T (p.Ala458Ser)
NM_000237.3(LPL):c.1385T>C (p.Phe462Ser)
NM_000237.3(LPL):c.167T>G (p.Leu56Arg)
NM_000237.3(LPL):c.203A>G (p.His68Arg)
NM_000237.3(LPL):c.254C>T (p.Thr85Ile)
NM_000237.3(LPL):c.273G>C (p.Trp91Cys)
NM_000237.3(LPL):c.290C>T (p.Ala97Val) rs201946950
NM_000237.3(LPL):c.35C>T (p.Ala12Val)
NM_000237.3(LPL):c.37G>T (p.Val13Leu)
NM_000237.3(LPL):c.386A>C (p.Lys129Thr)
NM_000237.3(LPL):c.424A>T (p.Met142Leu)
NM_000237.3(LPL):c.485C>T (p.Ala162Val)
NM_000237.3(LPL):c.56C>A (p.Thr19Asn)
NM_000237.3(LPL):c.592C>T (p.Leu198Phe)
NM_000237.3(LPL):c.598C>T (p.Pro200Ser)
NM_000237.3(LPL):c.653G>A (p.Gly218Asp)
NM_000237.3(LPL):c.68G>A (p.Gly23Glu)
NM_000237.3(LPL):c.743C>T (p.Ala248Val)
NM_000237.3(LPL):c.749G>A (p.Arg250His)
NM_000237.3(LPL):c.79G>T (p.Ala27Ser)
NM_000237.3(LPL):c.898_1019-1238dup
NM_000237.3(LPL):c.8G>A (p.Ser3Asn)
NM_000237.3(LPL):c.911G>C (p.Ser304Thr)
NM_000237.3(LPL):c.914G>C (p.Cys305Ser)
NM_000237.3(LPL):c.916A>G (p.Arg306Gly)
NM_000237.3(LPL):c.949A>T (p.Ile317Phe)
NM_000238.4(KCNH2):c.1043T>A (p.Phe348Tyr) rs794728363
NM_000238.4(KCNH2):c.104G>C (p.Arg35Pro)
NM_000238.4(KCNH2):c.1123A>G (p.Thr375Ala) rs2116997162
NM_000238.4(KCNH2):c.1128+5G>A
NM_000238.4(KCNH2):c.1226T>A (p.Val409Glu) rs794728367
NM_000238.4(KCNH2):c.1396G>T (p.Asp466Tyr) rs199473511
NM_000238.4(KCNH2):c.1469C>T (p.Ala490Val) rs1801214475
NM_000238.4(KCNH2):c.1511C>A (p.Ala504Asp)
NM_000238.4(KCNH2):c.1525G>A (p.Asp509Asn) rs370637245
NM_000238.4(KCNH2):c.1583G>A (p.Arg528Gln) rs199472914
NM_000238.4(KCNH2):c.1603G>A (p.Val535Met) rs375872367
NM_000238.4(KCNH2):c.1652T>C (p.Phe551Ser) rs1057524535
NM_000238.4(KCNH2):c.1675C>T (p.Leu559Phe) rs794728374
NM_000238.4(KCNH2):c.167G>C (p.Arg56Pro)
NM_000238.4(KCNH2):c.1693G>T (p.Ala565Ser) rs199473518
NM_000238.4(KCNH2):c.1747A>C (p.Ile583Leu) rs199473427
NM_000238.4(KCNH2):c.1781G>T (p.Gly594Val)
NM_000238.4(KCNH2):c.1805T>C (p.Leu602Pro) rs876661348
NM_000238.4(KCNH2):c.1831T>A (p.Tyr611Asn)
NM_000238.4(KCNH2):c.1859G>A (p.Ser620Asn) rs1801161235
NM_000238.4(KCNH2):c.1869C>T (p.Thr623=)
NM_000238.4(KCNH2):c.1871G>A (p.Ser624Asn) rs777410293
NM_000238.4(KCNH2):c.1915A>G (p.Ile639Val)
NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr) rs199472971
NM_000238.4(KCNH2):c.1926C>G (p.Ile642Met) rs1801154313
NM_000238.4(KCNH2):c.1943G>T (p.Gly648Val)
NM_000238.4(KCNH2):c.1946-5C>T
NM_000238.4(KCNH2):c.1965C>G (p.Ile655Met) rs774672362
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.4(KCNH2):c.1994G>A (p.Arg665Gln)
NM_000238.4(KCNH2):c.2003C>T (p.Ser668Leu)
NM_000238.4(KCNH2):c.2015G>A (p.Arg672His) rs745370146
NM_000238.4(KCNH2):c.2110G>A (p.Ala704Thr)
NM_000238.4(KCNH2):c.2134G>A (p.Asp712Asn)
NM_000238.4(KCNH2):c.2142C>G (p.Asn714Lys)
NM_000238.4(KCNH2):c.2145+3G>A rs1378166842
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_000238.4(KCNH2):c.227G>T (p.Arg76Leu) rs868054429
NM_000238.4(KCNH2):c.2296G>A (p.Gly766Arg) rs1057524377
NM_000238.4(KCNH2):c.2329A>G (p.Thr777Ala)
NM_000238.4(KCNH2):c.2343C>G (p.Phe781Leu) rs886039215
NM_000238.4(KCNH2):c.2351G>A (p.Arg784Gln)
NM_000238.4(KCNH2):c.2351G>C (p.Arg784Pro)
NM_000238.4(KCNH2):c.2356T>C (p.Ser786Pro)
NM_000238.4(KCNH2):c.2366T>C (p.Ile789Thr) rs794728388
NM_000238.4(KCNH2):c.2387T>G (p.Val796Gly) rs1554425163
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.4(KCNH2):c.2410A>G (p.Ile804Val)
NM_000238.4(KCNH2):c.2417G>A (p.Gly806Glu) rs199473000
NM_000238.4(KCNH2):c.2435A>G (p.Tyr812Cys)
NM_000238.4(KCNH2):c.2459G>A (p.Gly820Glu)
NM_000238.4(KCNH2):c.2488C>G (p.Leu830Val)
NM_000238.4(KCNH2):c.2525T>C (p.Leu842Pro) rs1554424818
NM_000238.4(KCNH2):c.2564G>A (p.Ser855Asn) rs2116940209
NM_000238.4(KCNH2):c.2593-15_2593-5del
NM_000238.4(KCNH2):c.2594C>T (p.Thr865Ile) rs768059097
NM_000238.4(KCNH2):c.2607G>T (p.Pro869=) rs199828796
NM_000238.4(KCNH2):c.2608G>A (p.Gly870Ser)
NM_000238.4(KCNH2):c.2614C>A (p.Pro872Thr)
NM_000238.4(KCNH2):c.2616C>A (p.Pro872=) rs374296728
NM_000238.4(KCNH2):c.2635G>C (p.Gly879Arg) rs199473040
NM_000238.4(KCNH2):c.2647C>T (p.Arg883Trp) rs201765446
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His) rs202194495
NM_000238.4(KCNH2):c.2666T>C (p.Leu889Ser)
NM_000238.4(KCNH2):c.2668_2670delinsCGCAAG (p.Ser890delinsArgLys)
NM_000238.4(KCNH2):c.2669C>G (p.Ser890Cys)
NM_000238.4(KCNH2):c.2672T>G (p.Phe891Cys)
NM_000238.4(KCNH2):c.2684C>A (p.Thr895Lys) rs199473434
NM_000238.4(KCNH2):c.2690delinsCGGACAC (p.Lys897delinsThrAspThr)
NM_000238.4(KCNH2):c.2696C>G (p.Thr899Arg) rs1480554629
NM_000238.4(KCNH2):c.2768C>A (p.Pro923Gln) rs760408746
NM_000238.4(KCNH2):c.2769_2771delinsAGC (p.Gly924Ala) rs1800969882
NM_000238.4(KCNH2):c.2770G>A (p.Gly924Arg) rs794728397
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu) rs199473009
NM_000238.4(KCNH2):c.2774G>C (p.Gly925Ala) rs794728398
NM_000238.4(KCNH2):c.2774G>T (p.Gly925Val) rs794728398
NM_000238.4(KCNH2):c.2781G>T (p.Trp927Cys) rs866768546
NM_000238.4(KCNH2):c.2782G>C (p.Gly928Arg)
NM_000238.4(KCNH2):c.2804C>T (p.Pro935Leu)
NM_000238.4(KCNH2):c.284A>C (p.Glu95Ala) rs794728414
NM_000238.4(KCNH2):c.2853C>A (p.Ser951Arg) rs1443792370
NM_000238.4(KCNH2):c.2899C>T (p.Pro967Ser) rs1057450060
NM_000238.4(KCNH2):c.2908G>A (p.Gly970Arg) rs1800959537
NM_000238.4(KCNH2):c.2962T>G (p.Ser988Ala) rs747237810
NM_000238.4(KCNH2):c.296A>G (p.Tyr99Cys) rs199472854
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
NM_000238.4(KCNH2):c.299G>C (p.Arg100Pro)
NM_000238.4(KCNH2):c.302A>G (p.Lys101Arg) rs2117062159
NM_000238.4(KCNH2):c.3049G>A (p.Ala1017Thr)
NM_000238.4(KCNH2):c.3061A>C (p.Ser1021Arg)
NM_000238.4(KCNH2):c.3092_3105delinsTC (p.Gly1031_Arg1035delinsVal)
NM_000238.4(KCNH2):c.3105_3107dup (p.Gly1036dup) rs794728469
NM_000238.4(KCNH2):c.3105_3112delinsAC (p.Gly1036_Val1038delinsLeu)
NM_000238.4(KCNH2):c.3112G>T (p.Val1038Leu) rs199473544
NM_000238.4(KCNH2):c.3140G>A (p.Arg1047His) rs36210421
NM_000238.4(KCNH2):c.314G>A (p.Cys105Tyr)
NM_000238.4(KCNH2):c.3153G>T (p.Arg1051Ser) rs1800920453
NM_000238.4(KCNH2):c.3163C>G (p.Arg1055Gly)
NM_000238.4(KCNH2):c.326T>A (p.Leu109Gln)
NM_000238.4(KCNH2):c.3311C>T (p.Thr1104Ile)
NM_000238.4(KCNH2):c.3344T>C (p.Met1115Thr)
NM_000238.4(KCNH2):c.3392G>A (p.Gly1131Asp)
NM_000238.4(KCNH2):c.3410C>A (p.Ser1137Tyr) rs1413026629
NM_000238.4(KCNH2):c.3445C>T (p.Pro1149Ser)
NM_000238.4(KCNH2):c.345GAA[1] (p.Lys116del) rs864622157
NM_000238.4(KCNH2):c.3460G>C (p.Gly1154Arg)
NM_000238.4(KCNH2):c.3478T>C (p.Ter1160Gln)
NM_000238.4(KCNH2):c.371T>C (p.Met124Thr) rs199472862
NM_000238.4(KCNH2):c.374T>G (p.Phe125Cys) rs199473499
NM_000238.4(KCNH2):c.387C>G (p.Phe129Leu) rs764831888
NM_000238.4(KCNH2):c.473-3C>T
NM_000238.4(KCNH2):c.47A>G (p.Asp16Gly)
NM_000238.4(KCNH2):c.521C>T (p.Thr174Met)
NM_000238.4(KCNH2):c.551GCGCGGGCG[3] (p.Gly189_Ala190insGlyAlaGly) rs551056698
NM_000238.4(KCNH2):c.553G>A (p.Ala185Thr) rs2117006639
NM_000238.4(KCNH2):c.567_575dup (p.Ala193_Val194insProGlyAla) rs1370496092
NM_000238.4(KCNH2):c.571C>G (p.Pro191Ala)
NM_000238.4(KCNH2):c.607G>A (p.Ala203Thr) rs199472868
NM_000238.4(KCNH2):c.617_618delinsTT (p.Ser206Ile) rs1060500660
NM_000238.4(KCNH2):c.629T>A (p.Leu210Gln)
NM_000238.4(KCNH2):c.663C>A (p.His221Gln)
NM_000238.4(KCNH2):c.682G>C (p.Ala228Pro) rs989191027
NM_000238.4(KCNH2):c.695G>T (p.Arg232Leu) rs886039160
NM_000238.4(KCNH2):c.712G>T (p.Gly238Cys) rs199473501
NM_000238.4(KCNH2):c.722C>T (p.Pro241Leu) rs199472871
NM_000238.4(KCNH2):c.729C>A (p.Ser243Arg)
NM_000238.4(KCNH2):c.730G>A (p.Ala244Thr)
NM_000238.4(KCNH2):c.731C>G (p.Ala244Gly) rs748762712
NM_000238.4(KCNH2):c.752C>T (p.Pro251Leu) rs1801446130
NM_000238.4(KCNH2):c.77-5C>T rs72549419
NM_000238.4(KCNH2):c.854C>T (p.Ala285Val) rs947793868
NM_000238.4(KCNH2):c.859G>A (p.Asp287Asn)
NM_000238.4(KCNH2):c.865G>C (p.Glu289Gln)
NM_000238.4(KCNH2):c.868G>C (p.Ala290Pro) rs532891158
NM_000238.4(KCNH2):c.872T>C (p.Met291Thr) rs199472881
NM_000238.4(KCNH2):c.883G>T (p.Val295Leu)
NM_000238.4(KCNH2):c.893C>T (p.Pro298Leu)
NM_000238.4(KCNH2):c.901C>A (p.Arg301Ser)
NM_000238.4(KCNH2):c.916+1G>A
NM_000238.4(KCNH2):c.923T>G (p.Met308Arg) rs372559632
NM_000238.4(KCNH2):c.941G>A (p.Gly314Asp) rs1801414464
NM_000238.4(KCNH2):c.980A>G (p.Tyr327Cys) rs886039013
NM_000238.4(KCNH2):c.985A>G (p.Thr329Ala) rs946110595
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr) rs199473487
NM_000256.3(MYBPC3):c.-5T>C rs886048383
NM_000256.3(MYBPC3):c.100G>C (p.Glu34Gln)
NM_000256.3(MYBPC3):c.1036C>T (p.Arg346Cys) rs1236178301
NM_000256.3(MYBPC3):c.104G>T (p.Arg35Leu)
NM_000256.3(MYBPC3):c.1053G>C (p.Arg351Ser) rs2095893951
NM_000256.3(MYBPC3):c.1055T>C (p.Leu352Pro)
NM_000256.3(MYBPC3):c.1076AGA[2] (p.Lys361del) rs775069579
NM_000256.3(MYBPC3):c.1090G>C (p.Ala364Pro) rs794727046
NM_000256.3(MYBPC3):c.1097A>C (p.Gln366Pro) rs1451314369
NM_000256.3(MYBPC3):c.1111C>A (p.Pro371Thr) rs1003833483
NM_000256.3(MYBPC3):c.1140G>T (p.Lys380Asn) rs2095891372
NM_000256.3(MYBPC3):c.1168C>A (p.His390Asn)
NM_000256.3(MYBPC3):c.1192A>G (p.Lys398Glu) rs2095891272
NM_000256.3(MYBPC3):c.1213A>G (p.Met405Val) rs727503207
NM_000256.3(MYBPC3):c.1218C>A (p.Ser406Arg) rs748558425
NM_000256.3(MYBPC3):c.1224-1G>A
NM_000256.3(MYBPC3):c.1334C>T (p.Thr445Met)
NM_000256.3(MYBPC3):c.1353G>C (p.Glu451Asp)
NM_000256.3(MYBPC3):c.1357C>T (p.Pro453Ser) rs749310275
NM_000256.3(MYBPC3):c.1364T>G (p.Leu455Arg)
NM_000256.3(MYBPC3):c.137G>A (p.Gly46Asp)
NM_000256.3(MYBPC3):c.1430T>A (p.Val477Glu)
NM_000256.3(MYBPC3):c.1457+4A>G rs886039119
NM_000256.3(MYBPC3):c.1457+5G>T
NM_000256.3(MYBPC3):c.145A>G (p.Ile49Val)
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.1524G>C (p.Gln508His)
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.1568G>T (p.Gly523Val)
NM_000256.3(MYBPC3):c.1573T>C (p.Tyr525His) rs1555122164
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1591G>T (p.Gly531Trp) rs397515912
NM_000256.3(MYBPC3):c.1624+5G>A rs730880691
NM_000256.3(MYBPC3):c.1627AAG[1] (p.Lys544del) rs1555122097
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.1736A>C (p.Lys579Thr)
NM_000256.3(MYBPC3):c.1783A>G (p.Ile595Val) rs730880550
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1829A>T (p.Asp610Val) rs730880554
NM_000256.3(MYBPC3):c.1830C>G (p.Asp610Glu) rs768049705
NM_000256.3(MYBPC3):c.1885C>T (p.Leu629Phe)
NM_000256.3(MYBPC3):c.1905G>T (p.Lys635Asn)
NM_000256.3(MYBPC3):c.1927+1G>A rs2142859053
NM_000256.3(MYBPC3):c.1927G>C (p.Glu643Gln) rs1555121871
NM_000256.3(MYBPC3):c.1939A>G (p.Ile647Val) rs1565626472
NM_000256.3(MYBPC3):c.1958G>A (p.Gly653Asp)
NM_000256.3(MYBPC3):c.1961G>A (p.Arg654His) rs1800565
NM_000256.3(MYBPC3):c.1969G>C (p.Asp657His)
NM_000256.3(MYBPC3):c.1977T>G (p.Ile659Met)
NM_000256.3(MYBPC3):c.2024G>A (p.Gly675Glu) rs2142857647
NM_000256.3(MYBPC3):c.2063C>T (p.Thr688Met) rs3729946
NM_000256.3(MYBPC3):c.2067G>T (p.Gln689His)
NM_000256.3(MYBPC3):c.2095C>T (p.Pro699Ser)
NM_000256.3(MYBPC3):c.2149-3C>A
NM_000256.3(MYBPC3):c.2149-4C>T
NM_000256.3(MYBPC3):c.2186CCA[1] (p.Thr730del)
NM_000256.3(MYBPC3):c.2188A>C (p.Thr730Pro)
NM_000256.3(MYBPC3):c.2193G>T (p.Lys731Asn)
NM_000256.3(MYBPC3):c.2240G>T (p.Gly747Val)
NM_000256.3(MYBPC3):c.2265C>A (p.Asn755Lys) rs1060501474
NM_000256.3(MYBPC3):c.2286C>G (p.Val762=) rs2142856547
NM_000256.3(MYBPC3):c.2335A>G (p.Lys779Glu)
NM_000256.3(MYBPC3):c.2347G>A (p.Val783Met) rs1060499878
NM_000256.3(MYBPC3):c.238G>A (p.Ala80Thr) rs730880700
NM_000256.3(MYBPC3):c.238G>T (p.Ala80Ser) rs730880700
NM_000256.3(MYBPC3):c.239delinsGAGG (p.Ala80delinsGlyGly) rs727504335
NM_000256.3(MYBPC3):c.2413+5G>A
NM_000256.3(MYBPC3):c.2414G>A (p.Gly805Asp) rs730880566
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2434A>G (p.Lys812Glu)
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.2483A>G (p.Glu828Gly)
NM_000256.3(MYBPC3):c.2491C>T (p.His831Tyr)
NM_000256.3(MYBPC3):c.25+3A>G
NM_000256.3(MYBPC3):c.2507T>C (p.Met836Thr) rs1555121215
NM_000256.3(MYBPC3):c.2511C>G (p.Ile837Met)
NM_000256.3(MYBPC3):c.251G>C (p.Gly84Ala)
NM_000256.3(MYBPC3):c.2524T>C (p.Tyr842His)
NM_000256.3(MYBPC3):c.2536G>C (p.Val846Leu) rs747774791
NM_000256.3(MYBPC3):c.2539T>C (p.Tyr847His) rs768963157
NM_000256.3(MYBPC3):c.2542G>T (p.Ala848Ser)
NM_000256.3(MYBPC3):c.2542_2543delinsTG (p.Ala848Trp) rs2142855225
NM_000256.3(MYBPC3):c.2543C>G (p.Ala848Gly) rs730880569
NM_000256.3(MYBPC3):c.2549A>T (p.Asn850Ile) rs730880570
NM_000256.3(MYBPC3):c.2560A>T (p.Met854Leu) rs373171036
NM_000256.3(MYBPC3):c.2566A>G (p.Arg856Gly)
NM_000256.3(MYBPC3):c.2602G>A (p.Gly868Ser) rs775890771
NM_000256.3(MYBPC3):c.2603-5C>T rs753396472
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.2624A>G (p.His875Arg) rs774889182
NM_000256.3(MYBPC3):c.2684G>T (p.Arg895Leu) rs372628478
NM_000256.3(MYBPC3):c.2708G>T (p.Gly903Val) rs1007623141
NM_000256.3(MYBPC3):c.2729C>T (p.Pro910Leu)
NM_000256.3(MYBPC3):c.2735G>T (p.Gly912Val) rs867959512
NM_000256.3(MYBPC3):c.2737+4_2737+5del rs2095881725
NM_000256.3(MYBPC3):c.2737+4_2737+7del rs1555120911
NM_000256.3(MYBPC3):c.2788C>G (p.Leu930Val) rs1399854518
NM_000256.3(MYBPC3):c.2807C>A (p.Thr936Lys)
NM_000256.3(MYBPC3):c.2816G>A (p.Arg939Gln) rs946763177
NM_000256.3(MYBPC3):c.2826C>G (p.Phe942Leu)
NM_000256.3(MYBPC3):c.2849C>T (p.Ala950Val) rs730880577
NM_000256.3(MYBPC3):c.2897A>T (p.Glu966Val) rs730880579
NM_000256.3(MYBPC3):c.2905+3G>C rs1060501483
NM_000256.3(MYBPC3):c.293-4C>G
NM_000256.3(MYBPC3):c.2938C>G (p.Arg980Gly) rs397515994
NM_000256.3(MYBPC3):c.293A>G (p.Glu98Gly)
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.2976C>A (p.Asn992Lys)
NM_000256.3(MYBPC3):c.3001C>A (p.Pro1001Thr)
NM_000256.3(MYBPC3):c.3014T>A (p.Val1005Glu)
NM_000256.3(MYBPC3):c.3057G>A (p.Val1019=) rs750618688
NM_000256.3(MYBPC3):c.3064C>A (p.Arg1022Ser)
NM_000256.3(MYBPC3):c.3079G>A (p.Asp1027Asn)
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile) rs397516002
NM_000256.3(MYBPC3):c.3086T>A (p.Ile1029Asn) rs730880587
NM_000256.3(MYBPC3):c.3104C>G (p.Ala1035Gly)
NM_000256.3(MYBPC3):c.3107G>T (p.Arg1036Leu)
NM_000256.3(MYBPC3):c.3155T>C (p.Met1052Thr)
NM_000256.3(MYBPC3):c.3160G>A (p.Asp1054Asn)
NM_000256.3(MYBPC3):c.317C>A (p.Pro106His)
NM_000256.3(MYBPC3):c.3185TTG[1] (p.Val1063del) rs1595841732
NM_000256.3(MYBPC3):c.3188T>C (p.Val1063Ala) rs988454775
NM_000256.3(MYBPC3):c.3224C>G (p.Thr1075Ser) rs150786409
NM_000256.3(MYBPC3):c.3290T>C (p.Leu1097Pro)
NM_000256.3(MYBPC3):c.3325A>G (p.Thr1109Ala)
NM_000256.3(MYBPC3):c.3329T>C (p.Met1110Thr) rs1321563978
NM_000256.3(MYBPC3):c.3330+5G>A rs373746463
NM_000256.3(MYBPC3):c.3333G>T (p.Glu1111Asp)
NM_000256.3(MYBPC3):c.3335_3337dup (p.Trp1112dup) rs730880673
NM_000256.3(MYBPC3):c.3347T>C (p.Leu1116Ser) rs886038832
NM_000256.3(MYBPC3):c.3356A>G (p.Tyr1119Cys) rs1595841315
NM_000256.3(MYBPC3):c.337G>T (p.Ala113Ser)
NM_000256.3(MYBPC3):c.3467A>G (p.Glu1156Gly)
NM_000256.3(MYBPC3):c.3491-3C>A rs730880592
NM_000256.3(MYBPC3):c.3497C>G (p.Thr1166Ser) rs1555120318
NM_000256.3(MYBPC3):c.3499T>C (p.Tyr1167His)
NM_000256.3(MYBPC3):c.3551C>T (p.Thr1184Ile)
NM_000256.3(MYBPC3):c.3560T>C (p.Leu1187Pro)
NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val) rs730880595
NM_000256.3(MYBPC3):c.3593C>T (p.Ala1198Val) rs878853834
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3605G>A (p.Cys1202Tyr) rs727503170
NM_000256.3(MYBPC3):c.3617G>A (p.Gly1206Asp) rs1057517769
NM_000256.3(MYBPC3):c.3628C>T (p.Pro1210Ser) rs1293774054
NM_000256.3(MYBPC3):c.3644T>A (p.Phe1215Tyr)
NM_000256.3(MYBPC3):c.365C>A (p.Ala122Asp)
NM_000256.3(MYBPC3):c.3669A>T (p.Glu1223Asp) rs1565622424
NM_000256.3(MYBPC3):c.367C>T (p.Pro123Ser)
NM_000256.3(MYBPC3):c.3683G>C (p.Arg1228Pro) rs528940575
NM_000256.3(MYBPC3):c.3699G>C (p.Gln1233His)
NM_000256.3(MYBPC3):c.3701G>T (p.Gly1234Val) rs2095877793
NM_000256.3(MYBPC3):c.3703G>T (p.Val1235Leu) rs1555120162
NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His) rs730880601
NM_000256.3(MYBPC3):c.3752A>G (p.Tyr1251Cys) rs730880602
NM_000256.3(MYBPC3):c.3754G>A (p.Val1252Ile)
NM_000256.3(MYBPC3):c.3757T>A (p.Cys1253Ser)
NM_000256.3(MYBPC3):c.3760A>G (p.Arg1254Gly)
NM_000256.3(MYBPC3):c.3764C>A (p.Ala1255Asp) rs727504722
NM_000256.3(MYBPC3):c.3764C>G (p.Ala1255Gly) rs727504722
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3778G>C (p.Gly1260Arg) rs1555120117
NM_000256.3(MYBPC3):c.3781G>C (p.Glu1261Gln)
NM_000256.3(MYBPC3):c.3782_3784dup (p.Glu1261_Ala1262insGlu)
NM_000256.3(MYBPC3):c.3796T>C (p.Cys1266Arg) rs730880608
NM_000256.3(MYBPC3):c.3797G>A (p.Cys1266Tyr) rs397516041
NM_000256.3(MYBPC3):c.3797G>T (p.Cys1266Phe)
NM_000256.3(MYBPC3):c.3798C>G (p.Cys1266Trp) rs1312046345
NM_000256.3(MYBPC3):c.3802C>G (p.Leu1268Val) rs2095877612
NM_000256.3(MYBPC3):c.380T>G (p.Leu127Arg)
NM_000256.3(MYBPC3):c.3812G>C (p.Arg1271Pro) rs762225417
NM_000256.3(MYBPC3):c.3814+1G>C rs1057521823
NM_000256.3(MYBPC3):c.3824_*22del (p.Ter1275Xaa)
NM_000256.3(MYBPC3):c.406G>A (p.Gly136Arg) rs730880613
NM_000256.3(MYBPC3):c.433C>T (p.Pro145Ser)
NM_000256.3(MYBPC3):c.446C>T (p.Ala149Val) rs779493486
NM_000256.3(MYBPC3):c.458C>A (p.Pro153His) rs756328813
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) rs397516053
NM_000256.3(MYBPC3):c.496G>A (p.Val166Met) rs2095898844
NM_000256.3(MYBPC3):c.497T>G (p.Val166Gly) rs876661366
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267
NM_000256.3(MYBPC3):c.505+1G>A rs730880620
NM_000256.3(MYBPC3):c.532G>A (p.Val178Met) rs727503218
NM_000256.3(MYBPC3):c.533T>A (p.Val178Glu) rs1555123426
NM_000256.3(MYBPC3):c.539G>A (p.Gly180Asp) rs867571018
NM_000256.3(MYBPC3):c.566T>A (p.Val189Asp) rs397516060
NM_000256.3(MYBPC3):c.605A>G (p.Lys202Arg)
NM_000256.3(MYBPC3):c.607G>C (p.Val203Leu)
NM_000256.3(MYBPC3):c.616C>T (p.His206Tyr)
NM_000256.3(MYBPC3):c.635G>C (p.Ser212Thr)
NM_000256.3(MYBPC3):c.654+5G>C rs397516066
NM_000256.3(MYBPC3):c.655-5C>G
NM_000256.3(MYBPC3):c.676A>G (p.Ile226Val) rs1336201335
NM_000256.3(MYBPC3):c.68C>A (p.Ala23Glu)
NM_000256.3(MYBPC3):c.716G>A (p.Cys239Tyr) rs776541959
NM_000256.3(MYBPC3):c.721G>A (p.Val241Met) rs886039000
NM_000256.3(MYBPC3):c.727A>C (p.Thr243Pro) rs730880625
NM_000256.3(MYBPC3):c.756C>A (p.Phe252Leu) rs876661367
NM_000256.3(MYBPC3):c.772+4A>C
NM_000256.3(MYBPC3):c.772+5G>A rs730880626
NM_000256.3(MYBPC3):c.773-4C>A
NM_000256.3(MYBPC3):c.774G>A (p.Glu258=)
NM_000256.3(MYBPC3):c.798CCT[1] (p.Leu268del)
NM_000256.3(MYBPC3):c.806C>T (p.Ser269Leu)
NM_000256.3(MYBPC3):c.821+3G>C rs727503213
NM_000256.3(MYBPC3):c.821C>A (p.Thr274Lys) rs748746951
NM_000256.3(MYBPC3):c.851+4C>T
NM_000256.3(MYBPC3):c.872G>T (p.Gly291Val) rs1555122934
NM_000256.3(MYBPC3):c.884T>C (p.Phe295Ser) rs876661369
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000256.3(MYBPC3):c.905G>C (p.Arg302Thr) rs1414396886
NM_000256.3(MYBPC3):c.926+5G>A
NM_000256.3(MYBPC3):c.932C>T (p.Ser311Leu) rs193922386
NM_000256.3(MYBPC3):c.97A>G (p.Thr33Ala) rs1265723882
NM_000257.4(MYH7):c.-2C>T
NM_000257.4(MYH7):c.1014G>T (p.Val338=)
NM_000257.4(MYH7):c.1046T>G (p.Met349Arg)
NM_000257.4(MYH7):c.1059A>T (p.Thr353=) rs1555338461
NM_000257.4(MYH7):c.1060_1062delinsCGT (p.Gly354Arg)
NM_000257.4(MYH7):c.1061G>A (p.Gly354Asp) rs2138677416
NM_000257.4(MYH7):c.1070T>G (p.Met357Arg) rs730880865
NM_000257.4(MYH7):c.1084A>G (p.Met362Val)
NM_000257.4(MYH7):c.109G>A (p.Val37Ile)
NM_000257.4(MYH7):c.10T>C (p.Ser4Pro)
NM_000257.4(MYH7):c.1129G>A (p.Gly377Ser) rs773599095
NM_000257.4(MYH7):c.1166G>A (p.Gly389Glu) rs727503268
NM_000257.4(MYH7):c.1172A>G (p.Asn391Ser) rs1566535452
NM_000257.4(MYH7):c.1179del (p.Asp394fs)
NM_000257.4(MYH7):c.1184T>G (p.Leu395Arg) rs1555338374
NM_000257.4(MYH7):c.1191G>C (p.Lys397Asn)
NM_000257.4(MYH7):c.1208G>C (p.Arg403Pro) rs121913624
NM_000257.4(MYH7):c.1216G>A (p.Val406Met) rs1422611896
NM_000257.4(MYH7):c.1224T>G (p.Asn408Lys)
NM_000257.4(MYH7):c.1231G>T (p.Val411Phe)
NM_000257.4(MYH7):c.1257+3G>A
NM_000257.4(MYH7):c.1258-3_1258-2delinsAT rs1555338344
NM_000257.4(MYH7):c.1268C>T (p.Ala423Val) rs1177694963
NM_000257.4(MYH7):c.1274G>C (p.Gly425Ala) rs1555338336
NM_000257.4(MYH7):c.1291G>A (p.Val431Met) rs606231322
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1346C>A (p.Thr449Asn)
NM_000257.4(MYH7):c.1348A>G (p.Lys450Glu) rs1403027088
NM_000257.4(MYH7):c.1349A>G (p.Lys450Arg)
NM_000257.4(MYH7):c.135G>C (p.Glu45Asp) rs397516102
NM_000257.4(MYH7):c.1366_1371dup (p.Phe456_Ile457dup) rs1386136433
NM_000257.4(MYH7):c.1373G>T (p.Gly458Val) rs1595086725
NM_000257.4(MYH7):c.1395C>G (p.Phe465Leu) rs45508293
NM_000257.4(MYH7):c.1396G>A (p.Glu466Lys) rs4981473
NM_000257.4(MYH7):c.1408-1G>A
NM_000257.4(MYH7):c.1419T>G (p.Phe473Leu)
NM_000257.4(MYH7):c.1432A>G (p.Ile478Val) rs730880873
NM_000257.4(MYH7):c.1435A>G (p.Asn479Asp) rs1555338261
NM_000257.4(MYH7):c.1462T>A (p.Phe488Ile) rs730880874
NM_000257.4(MYH7):c.1479G>A (p.Met493Ile) rs730880876
NM_000257.4(MYH7):c.1501T>C (p.Tyr501His)
NM_000257.4(MYH7):c.1522T>C (p.Trp508Arg)
NM_000257.4(MYH7):c.1548C>A (p.Asp516Glu) rs2138673993
NM_000257.4(MYH7):c.1566C>A (p.Asp522Glu)
NM_000257.4(MYH7):c.1578+1G>A rs1892788026
NM_000257.4(MYH7):c.1588A>G (p.Ile530Val) rs771831848
NM_000257.4(MYH7):c.1598T>A (p.Ile533Asn) rs397516114
NM_000257.4(MYH7):c.1607A>G (p.Glu536Gly) rs730880877
NM_000257.4(MYH7):c.1611G>C (p.Glu537Asp)
NM_000257.4(MYH7):c.1648G>T (p.Ala550Ser)
NM_000257.4(MYH7):c.1649C>A (p.Ala550Asp) rs1188606962
NM_000257.4(MYH7):c.1702A>G (p.Asn568Asp)
NM_000257.4(MYH7):c.1711G>A (p.Gly571Arg) rs730880879
NM_000257.4(MYH7):c.1732T>C (p.Ser578Pro)
NM_000257.4(MYH7):c.1753A>T (p.Ile585Phe) rs886038845
NM_000257.4(MYH7):c.1785GAA[1] (p.Lys596del)
NM_000257.4(MYH7):c.1795G>T (p.Asp599Tyr)
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser) rs730880880
NM_000257.4(MYH7):c.1811C>T (p.Thr604Ile) rs730880881
NM_000257.4(MYH7):c.1870T>A (p.Tyr624Asn) rs1555338113
NM_000257.4(MYH7):c.1876G>A (p.Gly626Arg) rs876661370
NM_000257.4(MYH7):c.1884_1888+15del
NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu) rs121913646
NM_000257.4(MYH7):c.194_201+26delinsGACT
NM_000257.4(MYH7):c.1968C>G (p.Asn656Lys)
NM_000257.4(MYH7):c.1977G>C (p.Met659Ile)
NM_000257.4(MYH7):c.1982A>G (p.Asn661Ser) rs1060501435
NM_000257.4(MYH7):c.1994C>T (p.Thr665Ile) rs1892712828
NM_000257.4(MYH7):c.19G>A (p.Ala7Thr)
NM_000257.4(MYH7):c.1A>G (p.Met1Val) rs139250539
NM_000257.4(MYH7):c.2006T>C (p.Phe669Ser)
NM_000257.4(MYH7):c.201+4G>A
NM_000257.4(MYH7):c.2024C>G (p.Pro675Arg)
NM_000257.4(MYH7):c.2032A>G (p.Thr678Ala)
NM_000257.4(MYH7):c.2063T>C (p.Leu688Pro) rs730880731
NM_000257.4(MYH7):c.2141T>C (p.Leu714Pro) rs2138668786
NM_000257.4(MYH7):c.2145C>A (p.Tyr715Ter)
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn) rs1057524857
NM_000257.4(MYH7):c.2162+1G>A rs752554104
NM_000257.4(MYH7):c.2168G>T (p.Arg723Leu)
NM_000257.4(MYH7):c.2197G>A (p.Gly733Arg)
NM_000257.4(MYH7):c.2206A>T (p.Ile736Phe)
NM_000257.4(MYH7):c.2260A>C (p.Asn754His)
NM_000257.4(MYH7):c.2260A>G (p.Asn754Asp)
NM_000257.4(MYH7):c.2266T>C (p.Tyr756His)
NM_000257.4(MYH7):c.2275G>T (p.Gly759Cys)
NM_000257.4(MYH7):c.2284A>G (p.Lys762Glu)
NM_000257.4(MYH7):c.2286+3G>A
NM_000257.4(MYH7):c.2287G>A (p.Val763Met) rs727504253
NM_000257.4(MYH7):c.2326del (p.Glu775_Met776insTer)
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.4(MYH7):c.2341C>A (p.Leu781Met) rs1348730180
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.2350A>T (p.Ile784Phe)
NM_000257.4(MYH7):c.2377C>T (p.Arg793Ter) rs140175704
NM_000257.4(MYH7):c.2386C>T (p.Leu796Phe) rs1222361739
NM_000257.4(MYH7):c.240C>A (p.Asn80Lys) rs200493975
NM_000257.4(MYH7):c.2423+1G>A rs113580172
NM_000257.4(MYH7):c.2424-2A>G
NM_000257.4(MYH7):c.2432T>G (p.Leu811Arg)
NM_000257.4(MYH7):c.2441T>G (p.Ile814Ser) rs2138666332
NM_000257.4(MYH7):c.2446T>C (p.Trp816Arg) rs1555337763
NM_000257.4(MYH7):c.2451C>A (p.Asn817Lys) rs876661372
NM_000257.4(MYH7):c.2468G>A (p.Gly823Glu)
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala) rs727503255
NM_000257.4(MYH7):c.2473A>C (p.Lys825Gln) rs730880743
NM_000257.4(MYH7):c.2480G>T (p.Trp827Leu) rs542565151
NM_000257.4(MYH7):c.2481G>T (p.Trp827Cys)
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His) rs730880746
NM_000257.4(MYH7):c.2523G>C (p.Lys841Asn)
NM_000257.4(MYH7):c.2536G>A (p.Glu846Lys) rs730880748
NM_000257.4(MYH7):c.2548G>A (p.Ala850Thr) rs1060499880
NM_000257.4(MYH7):c.2549C>G (p.Ala850Gly)
NM_000257.4(MYH7):c.2566T>C (p.Phe856Leu) rs1555337717
NM_000257.4(MYH7):c.2594A>T (p.Lys865Met) rs758891557
NM_000257.4(MYH7):c.2618T>C (p.Leu873Pro) rs1555337701
NM_000257.4(MYH7):c.2620GAG[1] (p.Glu875del) rs397516159
NM_000257.4(MYH7):c.2632G>A (p.Val878Met) rs730880751
NM_000257.4(MYH7):c.2647G>A (p.Glu883Lys) rs1212642361
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del) rs193922387
NM_000257.4(MYH7):c.2666T>A (p.Leu889His) rs886038813
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.2679G>A (p.Ala893=) rs765038766
NM_000257.4(MYH7):c.2680G>A (p.Glu894Lys) rs2138664054
NM_000257.4(MYH7):c.2714G>A (p.Cys905Tyr) rs730880757
NM_000257.4(MYH7):c.2719C>T (p.Gln907Ter)
NM_000257.4(MYH7):c.2734A>G (p.Lys912Glu) rs730880758
NM_000257.4(MYH7):c.2736G>T (p.Lys912Asn) rs1555337597
NM_000257.4(MYH7):c.2762A>C (p.Glu921Ala) rs779467831
NM_000257.4(MYH7):c.2779G>T (p.Glu927Ter)
NM_000257.4(MYH7):c.2783A>C (p.Asp928Ala) rs727504558
NM_000257.4(MYH7):c.2783A>G (p.Asp928Gly)
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val) rs727504558
NM_000257.4(MYH7):c.2787G>C (p.Glu929Asp)
NM_000257.4(MYH7):c.2792A>G (p.Glu931Gly) rs730880760
NM_000257.4(MYH7):c.2819A>C (p.Lys940Thr)
NM_000257.4(MYH7):c.2858A>T (p.Asp953Val) rs730880901
NM_000257.4(MYH7):c.2862C>G (p.Ile954Met)
NM_000257.4(MYH7):c.2868T>A (p.Asp956Glu) rs140718120
NM_000257.4(MYH7):c.2882T>G (p.Leu961Arg) rs727504374
NM_000257.4(MYH7):c.2891T>C (p.Val964Ala) rs778517353
NM_000257.4(MYH7):c.2923-5G>A rs779010466
NM_000257.4(MYH7):c.2923G>A (p.Val975Met) rs1892576769
NM_000257.4(MYH7):c.298G>A (p.Ala100Thr) rs730880154
NM_000257.4(MYH7):c.3013C>G (p.Gln1005Glu) rs1892572355
NM_000257.4(MYH7):c.3020T>C (p.Leu1007Pro) rs730880763
NM_000257.4(MYH7):c.3100-5A>G rs780522390
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp) rs730880903
NM_000257.4(MYH7):c.3172G>A (p.Asp1058Asn) rs730880770
NM_000257.4(MYH7):c.3173A>G (p.Asp1058Gly)
NM_000257.4(MYH7):c.3175del (p.Asp1058_Leu1059insTer)
NM_000257.4(MYH7):c.3229_3240del (p.Asp1077_Leu1080del)
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.3251A>C (p.Asp1084Ala)
NM_000257.4(MYH7):c.3266C>T (p.Ala1089Val)
NM_000257.4(MYH7):c.3274G>T (p.Ala1092Ser)
NM_000257.4(MYH7):c.3305G>C (p.Ser1102Thr)
NM_000257.4(MYH7):c.3320A>C (p.Lys1107Thr) rs886038988
NM_000257.4(MYH7):c.3336+3G>A rs397516180
NM_000257.4(MYH7):c.3336+4_3336+6del
NM_000257.4(MYH7):c.3337-2_3337delinsCAGA rs1892420744
NM_000257.4(MYH7):c.336G>C (p.Trp112Cys)
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.341T>C (p.Ile114Thr) rs730880833
NM_000257.4(MYH7):c.3430GAG[1] (p.Glu1145del)
NM_000257.4(MYH7):c.3445C>G (p.Arg1149Gly)
NM_000257.4(MYH7):c.3446G>C (p.Arg1149Pro) rs768978215
NM_000257.4(MYH7):c.345+1G>A rs112907315
NM_000257.4(MYH7):c.3469A>G (p.Thr1157Ala) rs730880775
NM_000257.4(MYH7):c.3492C>A (p.Asn1164Lys) rs730880777
NM_000257.4(MYH7):c.3499C>A (p.Arg1167Ser)
NM_000257.4(MYH7):c.353C>A (p.Ser118Ter)
NM_000257.4(MYH7):c.3545C>T (p.Thr1182Met)
NM_000257.4(MYH7):c.3548T>A (p.Leu1183Gln)
NM_000257.4(MYH7):c.3569C>T (p.Ala1190Val)
NM_000257.4(MYH7):c.3575T>G (p.Leu1192Arg)
NM_000257.4(MYH7):c.3577C>A (p.Arg1193Ser) rs886039090
NM_000257.4(MYH7):c.358C>T (p.Leu120Phe)
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.4(MYH7):c.3620T>A (p.Ile1207Asn) rs730880780
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met) rs529700838
NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn) rs730880781
NM_000257.4(MYH7):c.3631C>G (p.Gln1211Glu) rs1892401667
NM_000257.4(MYH7):c.3658_3660del (p.Glu1220del) rs397516190
NM_000257.4(MYH7):c.3667G>A (p.Glu1223Lys) rs794727410
NM_000257.4(MYH7):c.3667G>C (p.Glu1223Gln) rs794727410
NM_000257.4(MYH7):c.3690C>A (p.Asp1230Glu) rs370750044
NM_000257.4(MYH7):c.3709C>G (p.Gln1237Glu)
NM_000257.4(MYH7):c.3721G>T (p.Ala1241Ser) rs757538583
NM_000257.4(MYH7):c.3740A>T (p.Lys1247Met)
NM_000257.4(MYH7):c.3740del (p.Lys1247fs) rs1384488225
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) rs727503249
NM_000257.4(MYH7):c.374T>A (p.Val125Asp)
NM_000257.4(MYH7):c.3788C>T (p.Ala1263Val) rs758889483
NM_000257.4(MYH7):c.3823A>C (p.Ser1275Arg) rs730880784
NM_000257.4(MYH7):c.3829C>T (p.Arg1277Trp) rs727503248
NM_000257.4(MYH7):c.3830G>C (p.Arg1277Pro) rs397516195
NM_000257.4(MYH7):c.3842A>G (p.Gln1281Arg) rs2138652185
NM_000257.4(MYH7):c.3854G>A (p.Gly1285Asp)
NM_000257.4(MYH7):c.3907C>T (p.Arg1303Ter) rs1443114333
NM_000257.4(MYH7):c.3908G>A (p.Arg1303Gln) rs727505325
NM_000257.4(MYH7):c.3934C>G (p.Leu1312Val) rs886050419
NM_000257.4(MYH7):c.395C>T (p.Pro132Leu) rs2138684739
NM_000257.4(MYH7):c.3961_3963delinsAAA (p.Glu1321Lys) rs886038864
NM_000257.4(MYH7):c.3972G>T (p.Lys1324Asn)
NM_000257.4(MYH7):c.4014T>G (p.His1338Gln)
NM_000257.4(MYH7):c.4030C>T (p.Arg1344Trp) rs727504352
NM_000257.4(MYH7):c.4036C>A (p.Gln1346Lys) rs730880787
NM_000257.4(MYH7):c.4036C>G (p.Gln1346Glu) rs730880787
NM_000257.4(MYH7):c.4042G>C (p.Glu1348Gln)
NM_000257.4(MYH7):c.4049A>G (p.Glu1350Gly)
NM_000257.4(MYH7):c.4057G>A (p.Ala1353Thr)
NM_000257.4(MYH7):c.4063G>A (p.Ala1355Thr) rs755058300
NM_000257.4(MYH7):c.4070T>G (p.Leu1357Arg)
NM_000257.4(MYH7):c.4079T>C (p.Val1360Ala) rs730880789
NM_000257.4(MYH7):c.4099G>A (p.Glu1367Lys) rs1555336835
NM_000257.4(MYH7):c.4126G>A (p.Glu1376Lys) rs730880791
NM_000257.4(MYH7):c.4138A>G (p.Ile1380Val) rs777589215
NM_000257.4(MYH7):c.4156C>G (p.Leu1386Val)
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.4159G>C (p.Glu1387Gln) rs730880792
NM_000257.4(MYH7):c.4187G>A (p.Arg1396Gln) rs370069461
NM_000257.4(MYH7):c.4199C>G (p.Ala1400Gly) rs730880794
NM_000257.4(MYH7):c.4222A>G (p.Asn1408Asp)
NM_000257.4(MYH7):c.4224T>A (p.Asn1408Lys)
NM_000257.4(MYH7):c.4234T>C (p.Ser1412Pro)
NM_000257.4(MYH7):c.4240C>A (p.Leu1414Met) rs201895208
NM_000257.4(MYH7):c.4250C>T (p.Thr1417Ile) rs1057524383
NM_000257.4(MYH7):c.4256A>G (p.His1419Arg) rs397516206
NM_000257.4(MYH7):c.425A>G (p.Tyr142Cys)
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.428G>T (p.Arg143Leu) rs397516209
NM_000257.4(MYH7):c.431G>A (p.Gly144Asp) rs730880834
NM_000257.4(MYH7):c.4371G>C (p.Lys1457Asn) rs1555336697
NM_000257.4(MYH7):c.4382A>G (p.Glu1461Gly) rs995126992
NM_000257.4(MYH7):c.4411C>T (p.Gln1471Ter) rs397516216
NM_000257.4(MYH7):c.4457A>G (p.Asn1486Ser) rs2138645374
NM_000257.4(MYH7):c.4460C>T (p.Ala1487Val) rs1595074732
NM_000257.4(MYH7):c.4469A>G (p.Glu1490Gly)
NM_000257.4(MYH7):c.4493_4494delinsAT (p.Phe1498Tyr) rs2138645175
NM_000257.4(MYH7):c.4496A>G (p.Lys1499Arg)
NM_000257.4(MYH7):c.4519+1G>A
NM_000257.4(MYH7):c.452C>T (p.Pro151Leu) rs730880837
NM_000257.4(MYH7):c.4532A>G (p.Asp1511Gly)
NM_000257.4(MYH7):c.4571A>C (p.His1524Pro) rs767148171
NM_000257.4(MYH7):c.457C>T (p.His153Tyr)
NM_000257.4(MYH7):c.4585G>T (p.Val1529Phe)
NM_000257.4(MYH7):c.4589G>A (p.Arg1530Gln) rs730880803
NM_000257.4(MYH7):c.460A>G (p.Ile154Val) rs730880838
NM_000257.4(MYH7):c.4642G>A (p.Glu1548Lys)
NM_000257.4(MYH7):c.4644+5G>C rs730880797
NM_000257.4(MYH7):c.4645-1G>C
NM_000257.4(MYH7):c.4653_4655delinsCCTCCT (p.Glu1552delinsLeuLeu)
NM_000257.4(MYH7):c.4660G>A (p.Glu1554Lys) rs142694139
NM_000257.4(MYH7):c.467C>T (p.Ser156Phe)
NM_000257.4(MYH7):c.4699C>T (p.Gln1567Ter) rs1892204411
NM_000257.4(MYH7):c.4702A>G (p.Ile1568Val) rs1892204171
NM_000257.4(MYH7):c.4720C>T (p.Arg1574Trp) rs397516227
NM_000257.4(MYH7):c.4741G>A (p.Glu1581Lys) rs1892202458
NM_000257.4(MYH7):c.4747A>T (p.Met1583Leu) rs1466998230
NM_000257.4(MYH7):c.4828G>C (p.Glu1610Gln) rs730880810
NM_000257.4(MYH7):c.4872G>T (p.Glu1624Asp) rs766561921
NM_000257.4(MYH7):c.4876G>A (p.Glu1626Lys)
NM_000257.4(MYH7):c.487C>T (p.Gln163Ter) rs727505011
NM_000257.4(MYH7):c.4895C>A (p.Ala1632Asp) rs1435525455
NM_000257.4(MYH7):c.4899C>A (p.Asn1633Lys)
NM_000257.4(MYH7):c.4900C>T (p.Arg1634Cys) rs397516232
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His) rs545875689
NM_000257.4(MYH7):c.4954-5del
NM_000257.4(MYH7):c.4960del (p.Gln1654fs)
NM_000257.4(MYH7):c.4985G>T (p.Arg1662Leu) rs370328209
NM_000257.4(MYH7):c.5005G>T (p.Glu1669Ter) rs45620235
NM_000257.4(MYH7):c.5017A>G (p.Ile1673Val) rs753907340
NM_000257.4(MYH7):c.514C>A (p.Gln172Lys)
NM_000257.4(MYH7):c.5157+4del
NM_000257.4(MYH7):c.521T>A (p.Ile174Asn) rs1555338750
NM_000257.4(MYH7):c.5228A>G (p.Glu1743Gly) rs1892152784
NM_000257.4(MYH7):c.5245A>G (p.Arg1749Gly) rs562465062
NM_000257.4(MYH7):c.5255A>G (p.Glu1752Gly) rs730880813
NM_000257.4(MYH7):c.530C>G (p.Thr177Ser)
NM_000257.4(MYH7):c.5317dup (p.Gln1773fs)
NM_000257.4(MYH7):c.5339A>T (p.Glu1780Val)
NM_000257.4(MYH7):c.5344A>G (p.Met1782Val) rs727504385
NM_000257.4(MYH7):c.5360A>G (p.Glu1787Gly)
NM_000257.4(MYH7):c.538T>A (p.Ser180Thr) rs1555338704
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys) rs730880816
NM_000257.4(MYH7):c.5410G>A (p.Ala1804Thr) rs730880818
NM_000257.4(MYH7):c.5411C>G (p.Ala1804Gly) rs970169331
NM_000257.4(MYH7):c.5423G>A (p.Gly1808Asp)
NM_000257.4(MYH7):c.5440A>G (p.Lys1814Glu)
NM_000257.4(MYH7):c.5458C>A (p.Arg1820=) rs145734640
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.5470_5471delinsGG (p.Asn1824Gly) rs1595071680
NM_000257.4(MYH7):c.5481G>T (p.Glu1827Asp)
NM_000257.4(MYH7):c.5493G>T (p.Lys1831Asn)
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000257.4(MYH7):c.5499C>A (p.Asn1833Lys)
NM_000257.4(MYH7):c.5504_5505del (p.Glu1835fs)
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.5624T>C (p.Val1875Ala) rs886038830
NM_000257.4(MYH7):c.5638C>G (p.Arg1880Gly) rs1057522617
NM_000257.4(MYH7):c.5638C>T (p.Arg1880Cys) rs1057522617
NM_000257.4(MYH7):c.5639G>T (p.Arg1880Leu)
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>G (p.Arg1909Gly) rs146796870
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.5773C>T (p.Arg1925Cys) rs755706526
NM_000257.4(MYH7):c.5790+5G>T
NM_000257.4(MYH7):c.5791-2A>T
NM_000257.4(MYH7):c.5792delG
NM_000257.4(MYH7):c.59A>G (p.Glu20Gly)
NM_000257.4(MYH7):c.623A>T (p.Asp208Val)
NM_000257.4(MYH7):c.625C>A (p.Gln209Lys) rs878853840
NM_000257.4(MYH7):c.686C>T (p.Ala229Val) rs876657888
NM_000257.4(MYH7):c.689T>C (p.Phe230Ser) rs886038844
NM_000257.4(MYH7):c.698C>T (p.Ala233Val) rs727504362
NM_000257.4(MYH7):c.703A>G (p.Thr235Ala) rs876657889
NM_000257.4(MYH7):c.710G>A (p.Arg237Gln) rs397516263
NM_000257.4(MYH7):c.754T>C (p.Phe252Leu)
NM_000257.4(MYH7):c.758G>T (p.Gly253Val) rs730880853
NM_000257.4(MYH7):c.790G>A (p.Glu264Lys)
NM_000257.4(MYH7):c.806A>G (p.Glu269Gly)
NM_000257.4(MYH7):c.80A>G (p.Gln27Arg) rs878853843
NM_000257.4(MYH7):c.842G>A (p.Arg281Lys) rs730880856
NM_000257.4(MYH7):c.872C>T (p.Ser291Phe) rs397516272
NM_000257.4(MYH7):c.883C>A (p.Pro295Thr) rs1060501453
NM_000257.4(MYH7):c.895+5G>C rs779651013
NM_000257.4(MYH7):c.899T>G (p.Met300Arg) rs1892892787
NM_000257.4(MYH7):c.936C>T (p.Phe312=) rs771522982
NM_000257.4(MYH7):c.937A>C (p.Ile313Leu) rs1323103660
NM_000257.4(MYH7):c.960_962dup (p.Ala321_Ser322insAla)
NM_000257.4(MYH7):c.976G>A (p.Ala326Thr) rs372731424
NM_000257.4(MYH7):c.977C>G (p.Ala326Gly)
NM_000257.4(MYH7):c.999+3G>A rs1892886613
NM_000258.3(MYL3):c.100G>A (p.Glu34Lys)
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.170C>T (p.Ala57Val) rs139794067
NM_000258.3(MYL3):c.188G>C (p.Arg63Pro) rs139354105
NM_000258.3(MYL3):c.206T>A (p.Met69Lys) rs1575498236
NM_000258.3(MYL3):c.211A>T (p.Ile71Phe)
NM_000258.3(MYL3):c.244G>T (p.Ala82Ser)
NM_000258.3(MYL3):c.25A>G (p.Lys9Glu)
NM_000258.3(MYL3):c.263C>T (p.Thr88Ile)
NM_000258.3(MYL3):c.265C>T (p.Gln89Ter) rs1701982801
NM_000258.3(MYL3):c.278T>C (p.Leu93Pro)
NM_000258.3(MYL3):c.2T>A (p.Met1Lys)
NM_000258.3(MYL3):c.308-3C>T rs112911997
NM_000258.3(MYL3):c.370A>T (p.Asn124Tyr) rs1278498849
NM_000258.3(MYL3):c.400G>A (p.Val134Met) rs776163180
NM_000258.3(MYL3):c.413G>A (p.Arg138Gln) rs1057524652
NM_000258.3(MYL3):c.418T>C (p.Phe140Leu)
NM_000258.3(MYL3):c.419T>C (p.Phe140Ser)
NM_000258.3(MYL3):c.421G>A (p.Asp141Asn) rs1483805765
NM_000258.3(MYL3):c.432C>T (p.Gly144=)
NM_000258.3(MYL3):c.446T>C (p.Met149Thr) rs202141423
NM_000258.3(MYL3):c.447G>A (p.Met149Ile) rs730880162
NM_000258.3(MYL3):c.449G>A (p.Gly150Asp) rs1085307526
NM_000258.3(MYL3):c.456G>T (p.Glu152Asp) rs777855362
NM_000258.3(MYL3):c.475A>T (p.Thr159Ser)
NM_000258.3(MYL3):c.487A>G (p.Arg163Gly) rs2106905119
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.508G>C (p.Glu170Gln) rs864622538
NM_000258.3(MYL3):c.518T>C (p.Met173Thr) rs730880962
NM_000258.3(MYL3):c.55G>T (p.Ala19Ser)
NM_000258.3(MYL3):c.8C>A (p.Pro3His) rs536404643
NM_000335.5(SCN5A):c.1003T>A (p.Cys335Ser)
NM_000335.5(SCN5A):c.1037A>G (p.Glu346Gly) rs780735882
NM_000335.5(SCN5A):c.106T>C (p.Ser36Pro) rs1175871624
NM_000335.5(SCN5A):c.1109C>T (p.Thr370Met) rs199473099
NM_000335.5(SCN5A):c.113C>T (p.Thr38Ile) rs2062566716
NM_000335.5(SCN5A):c.1141-4_1141-3delinsTA rs1559774986
NM_000335.5(SCN5A):c.1237G>T (p.Ala413Ser) rs199473110
NM_000335.5(SCN5A):c.123G>C (p.Glu41Asp) rs1553607598
NM_000335.5(SCN5A):c.125G>A (p.Ser42Asn) rs2062566338
NM_000335.5(SCN5A):c.1262A>C (p.Gln421Pro) rs1553704745
NM_000335.5(SCN5A):c.1272C>G (p.Ile424Met) rs267599794
NM_000335.5(SCN5A):c.1287G>T (p.Glu429Asp) rs367807565
NM_000335.5(SCN5A):c.1338+3G>A rs1553704675
NM_000335.5(SCN5A):c.1340C>T (p.Ala447Val)
NM_000335.5(SCN5A):c.1478G>C (p.Arg493Thr)
NM_000335.5(SCN5A):c.1538G>C (p.Arg513Pro) rs397517951
NM_000335.5(SCN5A):c.1550G>A (p.Arg517Lys) rs2061967009
NM_000335.5(SCN5A):c.1568G>T (p.Arg523Leu)
NM_000335.5(SCN5A):c.1671C>G (p.His557Gln) rs762858787
NM_000335.5(SCN5A):c.1705C>G (p.Arg569Gly) rs199473576
NM_000335.5(SCN5A):c.1729A>C (p.Ser577Arg) rs2061960299
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_000335.5(SCN5A):c.17T>C (p.Leu6Ser)
NM_000335.5(SCN5A):c.1813G>A (p.Gly605Arg) rs1553704001
NM_000335.5(SCN5A):c.1859G>T (p.Arg620Leu) rs746504626
NM_000335.5(SCN5A):c.1889C>A (p.Thr630Lys)
NM_000335.5(SCN5A):c.1993G>A (p.Ala665Thr) rs756474485
NM_000335.5(SCN5A):c.2207T>C (p.Leu736Pro) rs1553702937
NM_000335.5(SCN5A):c.2209G>A (p.Glu737Lys) rs794728862
NM_000335.5(SCN5A):c.2240A>C (p.Glu747Ala) rs747324991
NM_000335.5(SCN5A):c.2275A>G (p.Ile759Val) rs199473155
NM_000335.5(SCN5A):c.2275A>T (p.Ile759Phe) rs199473155
NM_000335.5(SCN5A):c.2294C>T (p.Thr765Ile) rs2061688177
NM_000335.5(SCN5A):c.2320T>G (p.Tyr774Asp) rs1303852068
NM_000335.5(SCN5A):c.2321A>G (p.Tyr774Cys)
NM_000335.5(SCN5A):c.2343G>C (p.Trp781Cys)
NM_000335.5(SCN5A):c.2345A>G (p.Asn782Ser)
NM_000335.5(SCN5A):c.235C>G (p.Pro79Ala) rs200923894
NM_000335.5(SCN5A):c.2377C>T (p.Leu793Phe)
NM_000335.5(SCN5A):c.2390G>T (p.Gly797Val) rs987266626
NM_000335.5(SCN5A):c.2415G>A (p.Ser805=) rs754312452
NM_000335.5(SCN5A):c.2417T>G (p.Val806Gly)
NM_000335.5(SCN5A):c.246C>G (p.Asp82Glu) rs747643709
NM_000335.5(SCN5A):c.2500A>G (p.Asn834Asp) rs2061660815
NM_000335.5(SCN5A):c.2513C>A (p.Ala838Glu)
NM_000335.5(SCN5A):c.251A>T (p.Asp84Val) rs1462326368
NM_000335.5(SCN5A):c.260A>G (p.Tyr87Cys) rs1575853007
NM_000335.5(SCN5A):c.2630C>G (p.Pro877Arg) rs1060501147
NM_000335.5(SCN5A):c.2648A>G (p.Asp883Gly) rs1575769807
NM_000335.5(SCN5A):c.2656C>A (p.His886Asn)
NM_000335.5(SCN5A):c.2662T>C (p.Phe888Leu) rs866956533
NM_000335.5(SCN5A):c.2674T>C (p.Phe892Leu) rs199473170
NM_000335.5(SCN5A):c.2681T>A (p.Ile894Asn)
NM_000335.5(SCN5A):c.2690G>A (p.Gly897Glu) rs2061656145
NM_000335.5(SCN5A):c.2735A>G (p.Gln912Arg) rs876661392
NM_000335.5(SCN5A):c.274-5C>G rs773669619
NM_000335.5(SCN5A):c.2822C>G (p.Ser941Cys) rs1296243690
NM_000335.5(SCN5A):c.2866A>G (p.Met956Val)
NM_000335.5(SCN5A):c.2881C>G (p.Leu961Val)
NM_000335.5(SCN5A):c.2987C>A (p.Ala996Asp) rs1263123803
NM_000335.5(SCN5A):c.2996G>A (p.Gly999Asp)
NM_000335.5(SCN5A):c.2999_3001del (p.Gln1000del) rs748297358
NM_000335.5(SCN5A):c.301A>G (p.Thr101Ala)
NM_000335.5(SCN5A):c.3022C>G (p.Pro1008Ala)
NM_000335.5(SCN5A):c.3068G>C (p.Arg1023Pro) rs199473592
NM_000335.5(SCN5A):c.3085G>A (p.Glu1029Lys) rs1064797003
NM_000335.5(SCN5A):c.3104G>A (p.Gly1035Asp)
NM_000335.5(SCN5A):c.3109G>A (p.Gly1037Ser)
NM_000335.5(SCN5A):c.3187GAG[1] (p.Glu1064del) rs779953279
NM_000335.5(SCN5A):c.3208GAG[2] (p.Glu1072del) rs758282196
NM_000335.5(SCN5A):c.3211G>A (p.Glu1071Lys)
NM_000335.5(SCN5A):c.3214_3215inv (p.Glu1072Ser)
NM_000335.5(SCN5A):c.3225G>T (p.Lys1075Asn) rs1553699582
NM_000335.5(SCN5A):c.3235C>G (p.Gln1079Glu)
NM_000335.5(SCN5A):c.3254C>T (p.Pro1085Leu) rs2061541054
NM_000335.5(SCN5A):c.3265C>A (p.Pro1089Thr) rs1553699286
NM_000335.5(SCN5A):c.3282G>C (p.Trp1094Cys) rs759924541
NM_000335.5(SCN5A):c.3289G>A (p.Val1097Met) rs199473191
NM_000335.5(SCN5A):c.3339C>A (p.Asp1113Glu)
NM_000335.5(SCN5A):c.3387+5T>C rs2125867460
NM_000335.5(SCN5A):c.3389C>G (p.Thr1130Ser) rs199473197
NM_000335.5(SCN5A):c.3413GCA[3] (p.Ser1139_Thr1140insSer)
NM_000335.5(SCN5A):c.3418A>T (p.Thr1140Ser)
NM_000335.5(SCN5A):c.344G>A (p.Ser115Asn) rs1203397027
NM_000335.5(SCN5A):c.3464A>C (p.Asp1155Ala)
NM_000335.5(SCN5A):c.3490G>C (p.Glu1164Gln)
NM_000335.5(SCN5A):c.34A>G (p.Ser12Gly)
NM_000335.5(SCN5A):c.3535G>T (p.Ala1179Ser)
NM_000335.5(SCN5A):c.3565G>T (p.Val1189Phe)
NM_000335.5(SCN5A):c.3691C>T (p.Arg1231Trp) rs199473207
NM_000335.5(SCN5A):c.3725A>G (p.Asp1242Gly) rs2061340518
NM_000335.5(SCN5A):c.3803A>G (p.Asn1268Ser) rs761274563
NM_000335.5(SCN5A):c.3880G>A (p.Glu1294Lys) rs199473218
NM_000335.5(SCN5A):c.3884T>C (p.Met1295Thr)
NM_000335.5(SCN5A):c.3914G>T (p.Arg1305Leu) rs730880207
NM_000335.5(SCN5A):c.3923G>A (p.Arg1308His) rs537423012
NM_000335.5(SCN5A):c.393-5C>T rs368678204
NM_000335.5(SCN5A):c.3960+4A>G
NM_000335.5(SCN5A):c.4015G>C (p.Val1339Leu) rs199473605
NM_000335.5(SCN5A):c.4037T>C (p.Ile1346Thr)
NM_000335.5(SCN5A):c.4050G>T (p.Met1350Ile)
NM_000335.5(SCN5A):c.4105G>A (p.Asp1369Asn)
NM_000335.5(SCN5A):c.4119C>A (p.Asn1373Lys)
NM_000335.5(SCN5A):c.4145A>C (p.Gln1382Pro)
NM_000335.5(SCN5A):c.4178A>G (p.Tyr1393Cys) rs1553695248
NM_000335.5(SCN5A):c.4196T>G (p.Val1399Gly) rs1553695229
NM_000335.5(SCN5A):c.4229C>A (p.Ala1410Asp)
NM_000335.5(SCN5A):c.4243-4C>A
NM_000335.5(SCN5A):c.4247C>T (p.Thr1416Ile) rs1575719854
NM_000335.5(SCN5A):c.4255G>T (p.Gly1419Cys)
NM_000335.5(SCN5A):c.4274A>G (p.Tyr1425Cys)
NM_000335.5(SCN5A):c.4294G>T (p.Gly1432Trp) rs867001670
NM_000335.5(SCN5A):c.4335G>A (p.Met1445Ile) rs794728936
NM_000335.5(SCN5A):c.4434+4C>T rs368541703
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.4442G>A (p.Gly1481Asp)
NM_000335.5(SCN5A):c.44G>T (p.Arg15Met) rs373410109
NM_000335.5(SCN5A):c.4510A>C (p.Lys1504Gln) rs1278221673
NM_000335.5(SCN5A):c.4557C>A (p.Phe1519Leu)
NM_000335.5(SCN5A):c.4613G>A (p.Cys1538Tyr) rs770780069
NM_000335.5(SCN5A):c.4613_4614delinsTT (p.Cys1538Phe) rs2061099011
NM_000335.5(SCN5A):c.4720T>A (p.Cys1574Ser) rs1343260267
NM_000335.5(SCN5A):c.4751A>G (p.Tyr1584Cys) rs775026107
NM_000335.5(SCN5A):c.4760C>T (p.Thr1587Ile)
NM_000335.5(SCN5A):c.4808T>C (p.Val1603Ala)
NM_000335.5(SCN5A):c.4811-3C>T
NM_000335.5(SCN5A):c.4820T>G (p.Leu1607Arg)
NM_000335.5(SCN5A):c.4829T>C (p.Ile1610Thr)
NM_000335.5(SCN5A):c.4832T>A (p.Ile1611Asn) rs1553693063
NM_000335.5(SCN5A):c.4874G>T (p.Arg1625Leu)
NM_000335.5(SCN5A):c.4886T>C (p.Ile1629Thr)
NM_000335.5(SCN5A):c.4922G>A (p.Gly1641Glu) rs199473624
NM_000335.5(SCN5A):c.4927C>T (p.Arg1643Cys) rs199473287
NM_000335.5(SCN5A):c.4976T>C (p.Ile1659Thr)
NM_000335.5(SCN5A):c.5032T>A (p.Phe1678Ile)
NM_000335.5(SCN5A):c.5057G>A (p.Gly1686Asp)
NM_000335.5(SCN5A):c.5062GAC[1] (p.Asp1689del) rs773422233
NM_000335.5(SCN5A):c.5108T>A (p.Leu1703His) rs1559721808
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.5(SCN5A):c.5137G>A (p.Asp1713Asn) rs794728893
NM_000335.5(SCN5A):c.5173C>A (p.Pro1725Thr)
NM_000335.5(SCN5A):c.5188A>C (p.Thr1730Pro)
NM_000335.5(SCN5A):c.5269A>G (p.Ile1757Val) rs1325549884
NM_000335.5(SCN5A):c.5293A>G (p.Met1765Val) rs199473310
NM_000335.5(SCN5A):c.5295G>A (p.Met1765Ile) rs1553692822
NM_000335.5(SCN5A):c.5323A>G (p.Ser1775Gly)
NM_000335.5(SCN5A):c.536G>C (p.Arg179Pro) rs760585484
NM_000335.5(SCN5A):c.5424T>G (p.Ile1808Met)
NM_000335.5(SCN5A):c.5468C>T (p.Pro1823Leu) rs2061021652
NM_000335.5(SCN5A):c.5516T>G (p.Leu1839Arg) rs2125825416
NM_000335.5(SCN5A):c.5521A>G (p.Met1841Val) rs368967393
NM_000335.5(SCN5A):c.552C>G (p.His184Gln) rs770959082
NM_000335.5(SCN5A):c.5531G>A (p.Gly1844Glu)
NM_000335.5(SCN5A):c.5543A>G (p.His1848Arg) rs794728898
NM_000335.5(SCN5A):c.5546G>C (p.Cys1849Ser) rs199473322
NM_000335.5(SCN5A):c.5554A>C (p.Ile1852Leu) rs1348016844
NM_000335.5(SCN5A):c.5576G>A (p.Arg1859Lys) rs1559720220
NM_000335.5(SCN5A):c.5589G>T (p.Glu1863Asp) rs794728899
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup) rs1474459822
NM_000335.5(SCN5A):c.5654A>C (p.Lys1885Thr) rs2125825142
NM_000335.5(SCN5A):c.5660_5662del (p.Ser1887del)
NM_000335.5(SCN5A):c.5683C>G (p.Leu1895Val)
NM_000335.5(SCN5A):c.568C>T (p.Arg190Trp) rs199473068
NM_000335.5(SCN5A):c.5723A>G (p.Gln1908Arg) rs199473326
NM_000335.5(SCN5A):c.5726G>A (p.Arg1909Lys) rs1060501144
NM_000335.5(SCN5A):c.5742C>A (p.His1914Gln) rs1314879329
NM_000335.5(SCN5A):c.574C>A (p.Pro192Thr)
NM_000335.5(SCN5A):c.5759T>C (p.Leu1920Ser)
NM_000335.5(SCN5A):c.5795G>T (p.Gly1932Val) rs758704113
NM_000335.5(SCN5A):c.580A>G (p.Asn194Asp) rs1553605677
NM_000335.5(SCN5A):c.582C>A (p.Asn194Lys) rs2062303055
NM_000335.5(SCN5A):c.5840T>C (p.Ile1947Thr)
NM_000335.5(SCN5A):c.5885C>T (p.Pro1962Leu) rs756617804
NM_000335.5(SCN5A):c.5900T>C (p.Ile1967Thr)
NM_000335.5(SCN5A):c.5915T>C (p.Phe1972Ser) rs1060501131
NM_000335.5(SCN5A):c.6007T>A (p.Phe2003Ile) rs41311117
NM_000335.5(SCN5A):c.6008T>G (p.Phe2003Cys)
NM_000335.5(SCN5A):c.6014C>G (p.Pro2005Arg) rs199473338
NM_000335.5(SCN5A):c.611+4A>C
NM_000335.5(SCN5A):c.634C>G (p.Leu212Val)
NM_000335.5(SCN5A):c.702A>C (p.Ser234=) rs794728850
NM_000335.5(SCN5A):c.815T>C (p.Phe272Ser)
NM_000335.5(SCN5A):c.818T>A (p.Met273Lys) rs200076065
NM_000335.5(SCN5A):c.914A>G (p.Asp305Gly)
NM_000335.5(SCN5A):c.925A>T (p.Ser309Cys)
NM_000335.5(SCN5A):c.943C>G (p.Leu315Val)
NM_000335.5(SCN5A):c.955G>T (p.Gly319Cys) rs199473090
NM_000335.5(SCN5A):c.959C>T (p.Thr320Ile)
NM_000363.5(TNNI3):c.108+5G>A rs1261858318
NM_000363.5(TNNI3):c.11+4A>G
NM_000363.5(TNNI3):c.114A>T (p.Lys38Asn) rs730881066
NM_000363.5(TNNI3):c.115T>C (p.Ser39Pro)
NM_000363.5(TNNI3):c.119A>T (p.Lys40Met)
NM_000363.5(TNNI3):c.130T>A (p.Ser44Thr)
NM_000363.5(TNNI3):c.131C>G (p.Ser44Trp) rs730881085
NM_000363.5(TNNI3):c.146T>A (p.Leu49Gln)
NM_000363.5(TNNI3):c.151A>G (p.Thr51Ala)
NM_000363.5(TNNI3):c.173A>G (p.Lys58Arg) rs878853955
NM_000363.5(TNNI3):c.190G>C (p.Glu64Gln)
NM_000363.5(TNNI3):c.194C>T (p.Ala65Val) rs1057518784
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.220C>A (p.Arg74Ser) rs375795196
NM_000363.5(TNNI3):c.220C>G (p.Arg74Gly)
NM_000363.5(TNNI3):c.220C>T (p.Arg74Cys) rs375795196
NM_000363.5(TNNI3):c.221G>C (p.Arg74Pro) rs886039022
NM_000363.5(TNNI3):c.227T>C (p.Leu76Pro) rs1443859469
NM_000363.5(TNNI3):c.232A>T (p.Thr78Ser) rs786204399
NM_000363.5(TNNI3):c.258del (p.Leu88fs) rs727503507
NM_000363.5(TNNI3):c.269T>G (p.Phe90Cys)
NM_000363.5(TNNI3):c.318G>C (p.Lys106Asn) rs750350912
NM_000363.5(TNNI3):c.335dup (p.Tyr112Ter)
NM_000363.5(TNNI3):c.356C>T (p.Thr119Ile) rs184709702
NM_000363.5(TNNI3):c.372+2T>A
NM_000363.5(TNNI3):c.372+4G>C
NM_000363.5(TNNI3):c.380A>G (p.Asp127Gly)
NM_000363.5(TNNI3):c.382C>G (p.Leu128Val)
NM_000363.5(TNNI3):c.393G>A (p.Lys131=)
NM_000363.5(TNNI3):c.403C>T (p.Leu135Phe) rs1555863549
NM_000363.5(TNNI3):c.406C>G (p.Arg136Gly)
NM_000363.5(TNNI3):c.406C>T (p.Arg136Ter) rs1393946566
NM_000363.5(TNNI3):c.410G>A (p.Gly137Asp)
NM_000363.5(TNNI3):c.421C>G (p.Arg141Gly) rs730881071
NM_000363.5(TNNI3):c.451G>A (p.Ala151Thr) rs730881072
NM_000363.5(TNNI3):c.497C>G (p.Ser166Cys) rs727504242
NM_000363.5(TNNI3):c.502G>A (p.Asp168Asn) rs1085308019
NM_000363.5(TNNI3):c.534G>T (p.Lys178Asn)
NM_000363.5(TNNI3):c.538G>A (p.Asp180Asn) rs1060503103
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly) rs1060499912
NM_000363.5(TNNI3):c.547_548delinsGT (p.Lys183Val)
NM_000363.5(TNNI3):c.549+4_549+7del
NM_000363.5(TNNI3):c.55A>C (p.Ile19Leu) rs755862334
NM_000363.5(TNNI3):c.566G>C (p.Gly189Ala)
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu) rs730881080
NM_000363.5(TNNI3):c.581A>C (p.Asn194Thr) rs730881081
NM_000363.5(TNNI3):c.605A>G (p.Glu202Gly)
NM_000363.5(TNNI3):c.614A>C (p.Lys205Thr) rs1555862962
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala) rs730881083
NM_000363.5(TNNI3):c.629G>A (p.Ser210Asn)
NM_000363.5(TNNI3):c.79C>G (p.Arg27Gly) rs1555864366
NM_000363.5(TNNI3):c.79C>T (p.Arg27Cys) rs1555864366
NM_000363.5(TNNI3):c.80G>C (p.Arg27Pro) rs2147285955
NM_000363.5(TNNI3):c.88G>A (p.Ala30Thr) rs796104366
NM_000363.5(TNNI3):c.95A>G (p.Glu32Gly)
NM_000363.5(TNNI3):c.9T>A (p.Asp3Glu)
NM_000371.4(TTR):c.11A>T (p.His4Leu) rs1157253322
NM_000371.4(TTR):c.11_13dup (p.His4dup) rs747545126
NM_000371.4(TTR):c.122G>A (p.Arg41Gln) rs879254269
NM_000371.4(TTR):c.162A>C (p.Arg54Ser)
NM_000371.4(TTR):c.163A>G (p.Lys55Glu)
NM_000371.4(TTR):c.179C>T (p.Thr60Ile)
NM_000371.4(TTR):c.186G>T (p.Glu62Asp) rs1340627860
NM_000371.4(TTR):c.201-5T>C
NM_000371.4(TTR):c.211G>A (p.Glu71Lys) rs933476040
NM_000371.4(TTR):c.212A>C (p.Glu71Ala)
NM_000371.4(TTR):c.212A>G (p.Glu71Gly)
NM_000371.4(TTR):c.263T>G (p.Ile88Arg)
NM_000371.4(TTR):c.308G>A (p.Gly103Asp)
NM_000371.4(TTR):c.327G>T (p.Glu109Asp) rs876661395
NM_000371.4(TTR):c.328C>G (p.His110Asp) rs121918074
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000371.4(TTR):c.34G>T (p.Ala12Ser) rs1567945391
NM_000371.4(TTR):c.361G>C (p.Gly121Arg)
NM_000371.4(TTR):c.367C>G (p.Arg123Gly)
NM_000371.4(TTR):c.383C>T (p.Ala128Val)
NM_000371.4(TTR):c.50T>C (p.Val17Ala) rs1237121765
NM_000371.4(TTR):c.70-1G>A
NM_000371.4(TTR):c.71G>A (p.Gly24Asp)
NM_000371.4(TTR):c.88T>G (p.Cys30Gly)
NM_000384.3(APOB):c.10003G>C (p.Gly3335Arg)
NM_000384.3(APOB):c.10030A>G (p.Lys3344Glu)
NM_000384.3(APOB):c.10058A>C (p.Asn3353Thr)
NM_000384.3(APOB):c.10086T>G (p.Ile3362Met)
NM_000384.3(APOB):c.10120A>T (p.Ile3374Phe)
NM_000384.3(APOB):c.10134G>C (p.Gln3378His)
NM_000384.3(APOB):c.10205G>C (p.Ser3402Thr)
NM_000384.3(APOB):c.10292C>A (p.Ala3431Asp) rs2103352011
NM_000384.3(APOB):c.10306T>G (p.Leu3436Val)
NM_000384.3(APOB):c.10324C>A (p.Gln3442Lys) rs1663143963
NM_000384.3(APOB):c.10354C>G (p.Pro3452Ala)
NM_000384.3(APOB):c.10357A>G (p.Thr3453Ala)
NM_000384.3(APOB):c.10358C>T (p.Thr3453Ile)
NM_000384.3(APOB):c.1040T>C (p.Leu347Pro)
NM_000384.3(APOB):c.10427C>A (p.Ala3476Glu)
NM_000384.3(APOB):c.10439A>G (p.Lys3480Arg)
NM_000384.3(APOB):c.10446C>A (p.Ser3482Arg)
NM_000384.3(APOB):c.10460C>A (p.Thr3487Asn)
NM_000384.3(APOB):c.10474A>G (p.Ile3492Val)
NM_000384.3(APOB):c.10481C>T (p.Ser3494Leu)
NM_000384.3(APOB):c.10483T>C (p.Ser3495Pro)
NM_000384.3(APOB):c.10545T>A (p.Ser3515Arg)
NM_000384.3(APOB):c.10555A>G (p.Thr3519Ala)
NM_000384.3(APOB):c.10571A>C (p.Lys3524Thr) rs750035232
NM_000384.3(APOB):c.10583C>T (p.Ser3528Phe)
NM_000384.3(APOB):c.10619A>C (p.Asp3540Ala)
NM_000384.3(APOB):c.10672C>T (p.Arg3558Cys)
NM_000384.3(APOB):c.10673G>A (p.Arg3558His)
NM_000384.3(APOB):c.10676T>C (p.Ile3559Thr)
NM_000384.3(APOB):c.10724G>A (p.Gly3575Asp) rs1418775778
NM_000384.3(APOB):c.10741G>A (p.Gly3581Arg)
NM_000384.3(APOB):c.10778C>T (p.Pro3593Leu) rs1553382921
NM_000384.3(APOB):c.10787T>C (p.Met3596Thr)
NM_000384.3(APOB):c.10798G>A (p.Val3600Ile)
NM_000384.3(APOB):c.10804G>A (p.Val3602Ile)
NM_000384.3(APOB):c.10818G>T (p.Gln3606His)
NM_000384.3(APOB):c.10850G>A (p.Gly3617Asp)
NM_000384.3(APOB):c.10890G>C (p.Lys3630Asn)
NM_000384.3(APOB):c.10893C>G (p.Ile3631Met)
NM_000384.3(APOB):c.10912C>T (p.Arg3638Trp)
NM_000384.3(APOB):c.10925G>T (p.Gly3642Val)
NM_000384.3(APOB):c.10943T>C (p.Val3648Ala)
NM_000384.3(APOB):c.10943T>G (p.Val3648Gly)
NM_000384.3(APOB):c.11053T>C (p.Trp3685Arg)
NM_000384.3(APOB):c.11081C>G (p.Thr3694Ser)
NM_000384.3(APOB):c.1111A>C (p.Ile371Leu)
NM_000384.3(APOB):c.11132C>T (p.Thr3711Ile)
NM_000384.3(APOB):c.11141C>G (p.Pro3714Arg)
NM_000384.3(APOB):c.11141C>T (p.Pro3714Leu)
NM_000384.3(APOB):c.11179G>A (p.Ala3727Thr)
NM_000384.3(APOB):c.1117G>T (p.Val373Leu)
NM_000384.3(APOB):c.11182G>A (p.Asp3728Asn)
NM_000384.3(APOB):c.11184T>A (p.Asp3728Glu)
NM_000384.3(APOB):c.11189T>A (p.Phe3730Tyr)
NM_000384.3(APOB):c.11209C>G (p.Leu3737Val)
NM_000384.3(APOB):c.11215G>T (p.Asp3739Tyr)
NM_000384.3(APOB):c.11230C>T (p.Leu3744Phe)
NM_000384.3(APOB):c.11245T>C (p.Phe3749Leu)
NM_000384.3(APOB):c.11290G>A (p.Asp3764Asn)
NM_000384.3(APOB):c.11309T>A (p.Ile3770Asn)
NM_000384.3(APOB):c.11351C>A (p.Pro3784Gln)
NM_000384.3(APOB):c.11413G>A (p.Asp3805Asn)
NM_000384.3(APOB):c.11443G>T (p.Val3815Leu)
NM_000384.3(APOB):c.11453C>A (p.Ser3818Tyr)
NM_000384.3(APOB):c.11461A>G (p.Thr3821Ala) rs777808452
NM_000384.3(APOB):c.11507C>T (p.Ala3836Val)
NM_000384.3(APOB):c.1151A>G (p.Gln384Arg)
NM_000384.3(APOB):c.11533A>G (p.Asn3845Asp)
NM_000384.3(APOB):c.11542G>T (p.Ala3848Ser)
NM_000384.3(APOB):c.11561C>T (p.Thr3854Ile) rs1663097155
NM_000384.3(APOB):c.11566A>T (p.Ile3856Phe)
NM_000384.3(APOB):c.11588A>G (p.Glu3863Gly)
NM_000384.3(APOB):c.11596T>C (p.Ser3866Pro) rs769732943
NM_000384.3(APOB):c.1159C>G (p.Gln387Glu)
NM_000384.3(APOB):c.11612T>C (p.Val3871Ala)
NM_000384.3(APOB):c.11630T>C (p.Ile3877Thr)
NM_000384.3(APOB):c.11630T>G (p.Ile3877Ser)
NM_000384.3(APOB):c.1163C>T (p.Pro388Leu)
NM_000384.3(APOB):c.11651C>G (p.Thr3884Ser) rs749905188
NM_000384.3(APOB):c.11653G>T (p.Ala3885Ser)
NM_000384.3(APOB):c.11654C>T (p.Ala3885Val)
NM_000384.3(APOB):c.11696G>T (p.Ser3899Ile)
NM_000384.3(APOB):c.11734G>A (p.Val3912Ile)
NM_000384.3(APOB):c.11749T>A (p.Cys3917Ser)
NM_000384.3(APOB):c.1174A>G (p.Thr392Ala)
NM_000384.3(APOB):c.11792T>C (p.Leu3931Ser) rs1558560211
NM_000384.3(APOB):c.1183C>T (p.Leu395Phe)
NM_000384.3(APOB):c.11905G>A (p.Glu3969Lys)
NM_000384.3(APOB):c.11953G>A (p.Asp3985Asn) rs772544842
NM_000384.3(APOB):c.11969A>G (p.Tyr3990Cys)
NM_000384.3(APOB):c.11980A>C (p.Lys3994Gln)
NM_000384.3(APOB):c.12005C>T (p.Ala4002Val) rs369364335
NM_000384.3(APOB):c.12008C>A (p.Ser4003Tyr)
NM_000384.3(APOB):c.12053A>G (p.Asp4018Gly) rs771555558
NM_000384.3(APOB):c.12053A>T (p.Asp4018Val) rs771555558
NM_000384.3(APOB):c.1205A>G (p.His402Arg) rs965602697
NM_000384.3(APOB):c.12087+2T>C
NM_000384.3(APOB):c.12109A>T (p.Thr4037Ser)
NM_000384.3(APOB):c.12115T>C (p.Phe4039Leu)
NM_000384.3(APOB):c.12121A>G (p.Thr4041Ala)
NM_000384.3(APOB):c.1213C>A (p.Pro405Thr)
NM_000384.3(APOB):c.1217T>A (p.Leu406His)
NM_000384.3(APOB):c.12182A>T (p.Glu4061Val) rs747772556
NM_000384.3(APOB):c.1219C>A (p.Leu407Met)
NM_000384.3(APOB):c.12224C>T (p.Pro4075Leu)
NM_000384.3(APOB):c.12226A>G (p.Lys4076Glu)
NM_000384.3(APOB):c.12236G>C (p.Gly4079Ala)
NM_000384.3(APOB):c.12245A>G (p.Tyr4082Cys)
NM_000384.3(APOB):c.12257A>G (p.Asn4086Ser)
NM_000384.3(APOB):c.12293G>C (p.Arg4098Thr)
NM_000384.3(APOB):c.12308A>G (p.Lys4103Arg) rs1663037607
NM_000384.3(APOB):c.12334G>A (p.Ala4112Thr) rs1663036153
NM_000384.3(APOB):c.12342G>T (p.Trp4114Cys) rs1045593499
NM_000384.3(APOB):c.12358A>T (p.Ile4120Phe)
NM_000384.3(APOB):c.12368T>C (p.Ile4123Thr)
NM_000384.3(APOB):c.12371A>G (p.Asp4124Gly)
NM_000384.3(APOB):c.12380A>G (p.Asp4127Gly)
NM_000384.3(APOB):c.12529C>T (p.Arg4177Ter)
NM_000384.3(APOB):c.12530G>A (p.Arg4177Gln)
NM_000384.3(APOB):c.12533T>G (p.Val4178Gly)
NM_000384.3(APOB):c.12543A>C (p.Glu4181Asp)
NM_000384.3(APOB):c.12700A>G (p.Lys4234Glu)
NM_000384.3(APOB):c.12722T>C (p.Ile4241Thr)
NM_000384.3(APOB):c.12728T>G (p.Phe4243Cys)
NM_000384.3(APOB):c.1272G>C (p.Gln424His) rs780691494
NM_000384.3(APOB):c.12761C>T (p.Pro4254Leu)
NM_000384.3(APOB):c.12793G>A (p.Val4265Ile)
NM_000384.3(APOB):c.12860_12863del (p.Ile4287fs)
NM_000384.3(APOB):c.12863A>T (p.Gln4288Leu)
NM_000384.3(APOB):c.12917T>C (p.Ile4306Thr) rs1663012757
NM_000384.3(APOB):c.12947A>G (p.Gln4316Arg)
NM_000384.3(APOB):c.1296G>A (p.Met432Ile)
NM_000384.3(APOB):c.12991G>A (p.Asp4331Asn)
NM_000384.3(APOB):c.12991G>T (p.Asp4331Tyr)
NM_000384.3(APOB):c.13021A>G (p.Ile4341Val)
NM_000384.3(APOB):c.13028_13029del (p.Tyr4343fs) rs760832994
NM_000384.3(APOB):c.1303G>A (p.Asp435Asn)
NM_000384.3(APOB):c.1303G>C (p.Asp435His)
NM_000384.3(APOB):c.13063A>G (p.Asn4355Asp)
NM_000384.3(APOB):c.13074G>C (p.Lys4358Asn)
NM_000384.3(APOB):c.13137_13139dup (p.Tyr4380Ter) rs2103346873
NM_000384.3(APOB):c.13146G>C (p.Met4382Ile) rs762035564
NM_000384.3(APOB):c.13168G>C (p.Asp4390His) rs771015234
NM_000384.3(APOB):c.13268C>G (p.Ser4423Cys)
NM_000384.3(APOB):c.13293C>A (p.Asn4431Lys)
NM_000384.3(APOB):c.13293del (p.Phe4432fs)
NM_000384.3(APOB):c.13334A>C (p.His4445Pro)
NM_000384.3(APOB):c.13414A>G (p.Thr4472Ala)
NM_000384.3(APOB):c.13446T>G (p.Ile4482Met)
NM_000384.3(APOB):c.13454A>C (p.Lys4485Thr)
NM_000384.3(APOB):c.13489T>G (p.Tyr4497Asp) rs751629013
NM_000384.3(APOB):c.13559T>C (p.Leu4520Ser)
NM_000384.3(APOB):c.13564G>A (p.Asp4522Asn) rs767091894
NM_000384.3(APOB):c.13576C>T (p.Gln4526Ter)
NM_000384.3(APOB):c.13583A>G (p.Tyr4528Cys)
NM_000384.3(APOB):c.13615C>A (p.Leu4539Met)
NM_000384.3(APOB):c.13623G>C (p.Lys4541Asn)
NM_000384.3(APOB):c.13647C>A (p.Asn4549Lys)
NM_000384.3(APOB):c.13663G>T (p.Ala4555Ser)
NM_000384.3(APOB):c.1399G>A (p.Ala467Thr)
NM_000384.3(APOB):c.1471G>A (p.Val491Ile)
NM_000384.3(APOB):c.1471G>T (p.Val491Phe) rs775057058
NM_000384.3(APOB):c.154T>C (p.Tyr52His)
NM_000384.3(APOB):c.1556C>T (p.Pro519Leu)
NM_000384.3(APOB):c.1568T>C (p.Ile523Thr) rs781234577
NM_000384.3(APOB):c.1591C>G (p.Leu531Val)
NM_000384.3(APOB):c.1617+5A>G
NM_000384.3(APOB):c.1618-4G>T rs187405118
NM_000384.3(APOB):c.1640C>A (p.Thr547Asn)
NM_000384.3(APOB):c.1655C>A (p.Ala552Asp) rs765746519
NM_000384.3(APOB):c.1673G>A (p.Arg558Gln)
NM_000384.3(APOB):c.1744C>T (p.Pro582Ser)
NM_000384.3(APOB):c.1757A>C (p.Asn586Thr)
NM_000384.3(APOB):c.1796A>C (p.Asn599Thr)
NM_000384.3(APOB):c.180T>A (p.Ser60Arg)
NM_000384.3(APOB):c.1811A>G (p.Glu604Gly)
NM_000384.3(APOB):c.1858A>G (p.Lys620Glu)
NM_000384.3(APOB):c.1899C>G (p.Phe633Leu)
NM_000384.3(APOB):c.1975C>T (p.Leu659Phe) rs1026800482
NM_000384.3(APOB):c.2011A>T (p.Ser671Cys)
NM_000384.3(APOB):c.2063T>C (p.Ile688Thr)
NM_000384.3(APOB):c.2065G>A (p.Glu689Lys)
NM_000384.3(APOB):c.2078A>G (p.Glu693Gly)
NM_000384.3(APOB):c.20C>T (p.Ala7Val)
NM_000384.3(APOB):c.2108C>T (p.Ala703Val)
NM_000384.3(APOB):c.2122C>G (p.Gln708Glu)
NM_000384.3(APOB):c.2129T>A (p.Phe710Tyr)
NM_000384.3(APOB):c.2134C>T (p.Pro712Ser)
NM_000384.3(APOB):c.2157G>T (p.Leu719Phe)
NM_000384.3(APOB):c.2194A>G (p.Lys732Glu)
NM_000384.3(APOB):c.2209C>G (p.His737Asp) rs1663741564
NM_000384.3(APOB):c.2230G>A (p.Asp744Asn)
NM_000384.3(APOB):c.22CTG[3] (p.Leu9dup) rs1060500237
NM_000384.3(APOB):c.2302A>G (p.Lys768Glu) rs1553385712
NM_000384.3(APOB):c.2308G>A (p.Val770Ile) rs1415675587
NM_000384.3(APOB):c.2346G>C (p.Glu782Asp)
NM_000384.3(APOB):c.2365C>T (p.Leu789Phe)
NM_000384.3(APOB):c.2405G>A (p.Gly802Asp)
NM_000384.3(APOB):c.2435T>C (p.Met812Thr)
NM_000384.3(APOB):c.2446G>A (p.Val816Ile)
NM_000384.3(APOB):c.2454G>C (p.Arg818Ser)
NM_000384.3(APOB):c.2464A>G (p.Lys822Glu) rs1334497935
NM_000384.3(APOB):c.2466G>T (p.Lys822Asn) rs1663668143
NM_000384.3(APOB):c.2480T>C (p.Leu827Pro)
NM_000384.3(APOB):c.2482C>T (p.His828Tyr) rs1663667473
NM_000384.3(APOB):c.250G>T (p.Val84Phe)
NM_000384.3(APOB):c.2515C>A (p.Pro839Thr)
NM_000384.3(APOB):c.2518A>G (p.Thr840Ala)
NM_000384.3(APOB):c.2522G>C (p.Gly841Ala)
NM_000384.3(APOB):c.2620G>A (p.Val874Met)
NM_000384.3(APOB):c.26TGGCGCTGC[3] (p.9LAL[3]) rs17240441
NM_000384.3(APOB):c.2702T>G (p.Met901Arg)
NM_000384.3(APOB):c.2743G>C (p.Val915Leu)
NM_000384.3(APOB):c.2747C>T (p.Ala916Val)
NM_000384.3(APOB):c.2887T>C (p.Trp963Arg)
NM_000384.3(APOB):c.2898C>G (p.Cys966Trp)
NM_000384.3(APOB):c.2962G>A (p.Asp988Asn)
NM_000384.3(APOB):c.2968G>A (p.Ala990Thr)
NM_000384.3(APOB):c.2989G>A (p.Gly997Arg)
NM_000384.3(APOB):c.3056C>T (p.Thr1019Ile)
NM_000384.3(APOB):c.3080G>C (p.Arg1027Thr)
NM_000384.3(APOB):c.3125C>A (p.Ala1042Glu)
NM_000384.3(APOB):c.3128A>G (p.Lys1043Arg)
NM_000384.3(APOB):c.3136G>C (p.Glu1046Gln)
NM_000384.3(APOB):c.3190G>T (p.Val1064Phe)
NM_000384.3(APOB):c.3214G>C (p.Asp1072His)
NM_000384.3(APOB):c.3215A>G (p.Asp1072Gly) rs1663468896
NM_000384.3(APOB):c.3233G>T (p.Arg1078Ile)
NM_000384.3(APOB):c.3373T>G (p.Ser1125Ala)
NM_000384.3(APOB):c.3410T>A (p.Ile1137Asn)
NM_000384.3(APOB):c.3454T>C (p.Ser1152Pro)
NM_000384.3(APOB):c.3488A>G (p.Lys1163Arg)
NM_000384.3(APOB):c.3490A>G (p.Arg1164Gly)
NM_000384.3(APOB):c.3514G>A (p.Glu1172Lys)
NM_000384.3(APOB):c.3550G>A (p.Val1184Ile)
NM_000384.3(APOB):c.3554A>C (p.Asp1185Ala)
NM_000384.3(APOB):c.35_47delinsCTGCGCT (p.Leu12_Ala16delinsProAlaLeu) rs878853971
NM_000384.3(APOB):c.3635T>C (p.Leu1212Pro)
NM_000384.3(APOB):c.3637G>A (p.Asp1213Asn)
NM_000384.3(APOB):c.3641A>G (p.His1214Arg)
NM_000384.3(APOB):c.3705C>A (p.Ser1235Arg)
NM_000384.3(APOB):c.3717G>T (p.Gln1239His) rs756559649
NM_000384.3(APOB):c.3748A>G (p.Thr1250Ala)
NM_000384.3(APOB):c.3818T>A (p.Ile1273Asn)
NM_000384.3(APOB):c.382A>G (p.Arg128Gly) rs1664115534
NM_000384.3(APOB):c.3832T>C (p.Phe1278Leu)
NM_000384.3(APOB):c.3850C>T (p.Arg1284Trp)
NM_000384.3(APOB):c.3854T>C (p.Val1285Ala)
NM_000384.3(APOB):c.3863C>T (p.Thr1288Ile) rs745401772
NM_000384.3(APOB):c.3866T>G (p.Leu1289Trp)
NM_000384.3(APOB):c.3878G>A (p.Ser1293Asn)
NM_000384.3(APOB):c.3878G>C (p.Ser1293Thr) rs141443492
NM_000384.3(APOB):c.38C>T (p.Ala13Val)
NM_000384.3(APOB):c.3927T>A (p.Asp1309Glu) rs966817615
NM_000384.3(APOB):c.3974C>G (p.Ser1325Cys)
NM_000384.3(APOB):c.3980G>A (p.Gly1327Glu) rs773914667
NM_000384.3(APOB):c.3995C>T (p.Ser1332Phe)
NM_000384.3(APOB):c.400G>A (p.Ala134Thr) rs368321279
NM_000384.3(APOB):c.4019T>C (p.Phe1340Ser)
NM_000384.3(APOB):c.4025T>A (p.Ile1342Asn) rs1558566309
NM_000384.3(APOB):c.4034T>G (p.Leu1345Trp)
NM_000384.3(APOB):c.4107G>C (p.Trp1369Cys)
NM_000384.3(APOB):c.4115C>T (p.Ser1372Phe)
NM_000384.3(APOB):c.4150A>G (p.Ser1384Gly)
NM_000384.3(APOB):c.4162C>T (p.Arg1388Cys) rs267599185
NM_000384.3(APOB):c.4172T>C (p.Met1391Thr)
NM_000384.3(APOB):c.4201T>C (p.Ser1401Pro)
NM_000384.3(APOB):c.4240C>T (p.His1414Tyr)
NM_000384.3(APOB):c.4246A>G (p.Asn1416Asp)
NM_000384.3(APOB):c.4262C>T (p.Ser1421Leu)
NM_000384.3(APOB):c.4274C>T (p.Ser1425Phe)
NM_000384.3(APOB):c.4316A>G (p.His1439Arg)
NM_000384.3(APOB):c.4348A>G (p.Lys1450Glu)
NM_000384.3(APOB):c.4499C>T (p.Thr1500Ile)
NM_000384.3(APOB):c.4526C>T (p.Pro1509Leu)
NM_000384.3(APOB):c.4544A>T (p.Asn1515Ile)
NM_000384.3(APOB):c.4550A>C (p.Glu1517Ala)
NM_000384.3(APOB):c.4555A>G (p.Asn1519Asp)
NM_000384.3(APOB):c.4687T>C (p.Tyr1563His)
NM_000384.3(APOB):c.4732T>C (p.Tyr1578His)
NM_000384.3(APOB):c.4736A>G (p.Lys1579Arg)
NM_000384.3(APOB):c.4753A>G (p.Asn1585Asp)
NM_000384.3(APOB):c.4760T>C (p.Met1587Thr)
NM_000384.3(APOB):c.4785T>G (p.Asn1595Lys)
NM_000384.3(APOB):c.4796G>T (p.Arg1599Leu) rs746414462
NM_000384.3(APOB):c.4830G>T (p.Arg1610Ser) rs977664488
NM_000384.3(APOB):c.4881T>G (p.Asn1627Lys)
NM_000384.3(APOB):c.4883C>T (p.Ala1628Val)
NM_000384.3(APOB):c.4925A>G (p.Lys1642Arg)
NM_000384.3(APOB):c.4951G>A (p.Gly1651Arg)
NM_000384.3(APOB):c.4982A>G (p.Lys1661Arg)
NM_000384.3(APOB):c.49CTG[3] (p.Leu20_Leu22del)
NM_000384.3(APOB):c.5117C>T (p.Thr1706Ile)
NM_000384.3(APOB):c.5158G>A (p.Gly1720Ser)
NM_000384.3(APOB):c.5168G>T (p.Ser1723Ile) rs570383610
NM_000384.3(APOB):c.5228T>C (p.Met1743Thr)
NM_000384.3(APOB):c.5270T>C (p.Leu1757Pro)
NM_000384.3(APOB):c.5275A>G (p.Ile1759Val)
NM_000384.3(APOB):c.5298C>A (p.Phe1766Leu)
NM_000384.3(APOB):c.5306A>G (p.Lys1769Arg)
NM_000384.3(APOB):c.5347A>T (p.Thr1783Ser) rs1663320551
NM_000384.3(APOB):c.5380G>C (p.Val1794Leu)
NM_000384.3(APOB):c.53T>A (p.Leu18Gln)
NM_000384.3(APOB):c.5452C>T (p.Pro1818Ser)
NM_000384.3(APOB):c.5478C>G (p.Asn1826Lys)
NM_000384.3(APOB):c.5492A>G (p.Tyr1831Cys)
NM_000384.3(APOB):c.5564C>T (p.Thr1855Ile)
NM_000384.3(APOB):c.5579A>G (p.Gln1860Arg)
NM_000384.3(APOB):c.5588A>G (p.Glu1863Gly)
NM_000384.3(APOB):c.5642T>C (p.Met1881Thr)
NM_000384.3(APOB):c.5668C>A (p.Leu1890Met)
NM_000384.3(APOB):c.5668C>G (p.Leu1890Val)
NM_000384.3(APOB):c.5673T>A (p.His1891Gln)
NM_000384.3(APOB):c.5689C>T (p.Arg1897Cys) rs189341276
NM_000384.3(APOB):c.5692T>G (p.Ser1898Ala)
NM_000384.3(APOB):c.5728C>T (p.His1910Tyr)
NM_000384.3(APOB):c.5732C>G (p.Thr1911Arg)
NM_000384.3(APOB):c.5737G>A (p.Gly1913Ser)
NM_000384.3(APOB):c.5752G>T (p.Ala1918Ser)
NM_000384.3(APOB):c.5798T>C (p.Leu1933Ser)
NM_000384.3(APOB):c.5846C>T (p.Ser1949Phe)
NM_000384.3(APOB):c.5876G>A (p.Ser1959Asn)
NM_000384.3(APOB):c.5882G>T (p.Ser1961Ile)
NM_000384.3(APOB):c.5902G>A (p.Val1968Ile)
NM_000384.3(APOB):c.5902G>C (p.Val1968Leu)
NM_000384.3(APOB):c.5906G>A (p.Ser1969Asn)
NM_000384.3(APOB):c.5A>C (p.Asp2Ala)
NM_000384.3(APOB):c.6007G>T (p.Asp2003Tyr)
NM_000384.3(APOB):c.6063C>G (p.Asp2021Glu) rs556582055
NM_000384.3(APOB):c.6122A>G (p.Glu2041Gly)
NM_000384.3(APOB):c.6124A>G (p.Met2042Val)
NM_000384.3(APOB):c.6126G>A (p.Met2042Ile)
NM_000384.3(APOB):c.6130G>A (p.Asp2044Asn) rs1663290052
NM_000384.3(APOB):c.6133G>A (p.Ala2045Thr)
NM_000384.3(APOB):c.6140A>G (p.Glu2047Gly)
NM_000384.3(APOB):c.6161T>A (p.Ile2054Asn) rs538245770
NM_000384.3(APOB):c.6271G>C (p.Val2091Leu)
NM_000384.3(APOB):c.6283G>C (p.Val2095Leu)
NM_000384.3(APOB):c.6368A>G (p.Asn2123Ser) rs1663277875
NM_000384.3(APOB):c.640C>T (p.Arg214Cys)
NM_000384.3(APOB):c.6427A>C (p.Thr2143Pro)
NM_000384.3(APOB):c.6445T>A (p.Tyr2149Asn)
NM_000384.3(APOB):c.6467T>A (p.Ile2156Lys)
NM_000384.3(APOB):c.6530A>C (p.Tyr2177Ser) rs1199919734
NM_000384.3(APOB):c.6575A>G (p.His2192Arg)
NM_000384.3(APOB):c.6626T>C (p.Leu2209Ser)
NM_000384.3(APOB):c.6645C>A (p.His2215Gln)
NM_000384.3(APOB):c.6754G>A (p.Val2252Met) rs758442604
NM_000384.3(APOB):c.6754G>T (p.Val2252Leu) rs758442604
NM_000384.3(APOB):c.6763A>G (p.Lys2255Glu)
NM_000384.3(APOB):c.6791A>G (p.Glu2264Gly)
NM_000384.3(APOB):c.6808A>G (p.Lys2270Glu)
NM_000384.3(APOB):c.682A>G (p.Ile228Val)
NM_000384.3(APOB):c.6839A>C (p.His2280Pro)
NM_000384.3(APOB):c.6853T>G (p.Leu2285Val)
NM_000384.3(APOB):c.6886G>C (p.Val2296Leu)
NM_000384.3(APOB):c.694A>C (p.Thr232Pro)
NM_000384.3(APOB):c.695C>A (p.Thr232Asn) rs756001082
NM_000384.3(APOB):c.7001T>C (p.Ile2334Thr)
NM_000384.3(APOB):c.7016C>A (p.Ala2339Asp)
NM_000384.3(APOB):c.7022T>C (p.Val2341Ala)
NM_000384.3(APOB):c.7025A>C (p.His2342Pro)
NM_000384.3(APOB):c.7091T>C (p.Leu2364Ser)
NM_000384.3(APOB):c.7094C>A (p.Ala2365Asp)
NM_000384.3(APOB):c.7147C>G (p.Gln2383Glu)
NM_000384.3(APOB):c.7162G>C (p.Asp2388His)
NM_000384.3(APOB):c.7180G>T (p.Val2394Phe)
NM_000384.3(APOB):c.7190T>C (p.Ile2397Thr)
NM_000384.3(APOB):c.7199C>T (p.Ala2400Val)
NM_000384.3(APOB):c.7298A>T (p.His2433Leu)
NM_000384.3(APOB):c.7352A>G (p.Asn2451Ser)
NM_000384.3(APOB):c.7369C>A (p.Leu2457Met)
NM_000384.3(APOB):c.7372G>C (p.Glu2458Gln)
NM_000384.3(APOB):c.7376T>A (p.Leu2459Gln)
NM_000384.3(APOB):c.7396T>G (p.Leu2466Val)
NM_000384.3(APOB):c.7446A>C (p.Glu2482Asp)
NM_000384.3(APOB):c.7466T>G (p.Ile2489Arg)
NM_000384.3(APOB):c.7484G>C (p.Trp2495Ser)
NM_000384.3(APOB):c.7487T>C (p.Leu2496Ser)
NM_000384.3(APOB):c.7501A>T (p.Ser2501Cys)
NM_000384.3(APOB):c.7520A>G (p.His2507Arg) rs766283781
NM_000384.3(APOB):c.759G>T (p.Arg253Ser)
NM_000384.3(APOB):c.7692T>G (p.Phe2564Leu)
NM_000384.3(APOB):c.7718G>C (p.Trp2573Ser) rs1663235432
NM_000384.3(APOB):c.7726C>T (p.Arg2576Cys) rs767146440
NM_000384.3(APOB):c.7736C>G (p.Ala2579Gly)
NM_000384.3(APOB):c.7739T>C (p.Leu2580Ser)
NM_000384.3(APOB):c.7751G>C (p.Gly2584Ala)
NM_000384.3(APOB):c.7772A>G (p.Lys2591Arg)
NM_000384.3(APOB):c.7791G>A (p.Met2597Ile)
NM_000384.3(APOB):c.7792C>T (p.Pro2598Ser)
NM_000384.3(APOB):c.7835T>C (p.Phe2612Ser)
NM_000384.3(APOB):c.7843C>T (p.Pro2615Ser) rs143056106
NM_000384.3(APOB):c.7955T>C (p.Ile2652Thr) rs1221037514
NM_000384.3(APOB):c.7987A>T (p.Ile2663Phe)
NM_000384.3(APOB):c.8082G>C (p.Arg2694Ser)
NM_000384.3(APOB):c.8108T>C (p.Leu2703Pro)
NM_000384.3(APOB):c.8119A>T (p.Thr2707Ser)
NM_000384.3(APOB):c.8181C>A (p.Asn2727Lys) rs958169216
NM_000384.3(APOB):c.8193T>A (p.Phe2731Leu)
NM_000384.3(APOB):c.8216C>A (p.Pro2739Gln)
NM_000384.3(APOB):c.8226G>T (p.Gln2742His) rs376773500
NM_000384.3(APOB):c.8258C>T (p.Pro2753Leu)
NM_000384.3(APOB):c.8299C>A (p.Pro2767Thr)
NM_000384.3(APOB):c.8322T>A (p.Asn2774Lys)
NM_000384.3(APOB):c.8342C>T (p.Thr2781Ile)
NM_000384.3(APOB):c.8366T>A (p.Ile2789Asn)
NM_000384.3(APOB):c.8375C>G (p.Ser2792Cys) rs368776368
NM_000384.3(APOB):c.8405A>T (p.Glu2802Val)
NM_000384.3(APOB):c.8408T>C (p.Val2803Ala)
NM_000384.3(APOB):c.8483T>C (p.Val2828Ala)
NM_000384.3(APOB):c.8498A>C (p.Lys2833Thr)
NM_000384.3(APOB):c.8529G>T (p.Met2843Ile)
NM_000384.3(APOB):c.8531T>A (p.Leu2844Gln)
NM_000384.3(APOB):c.8558A>T (p.Lys2853Ile)
NM_000384.3(APOB):c.8621T>A (p.Ile2874Asn)
NM_000384.3(APOB):c.8645C>T (p.Thr2882Ile) rs113399155
NM_000384.3(APOB):c.8682C>G (p.Asn2894Lys)
NM_000384.3(APOB):c.8689A>G (p.Lys2897Glu)
NM_000384.3(APOB):c.8761T>G (p.Trp2921Gly)
NM_000384.3(APOB):c.8780G>C (p.Gly2927Ala)
NM_000384.3(APOB):c.8787G>C (p.Trp2929Cys)
NM_000384.3(APOB):c.8816A>G (p.Glu2939Gly)
NM_000384.3(APOB):c.8858C>A (p.Pro2953His) rs754457820
NM_000384.3(APOB):c.8863A>T (p.Thr2955Ser)
NM_000384.3(APOB):c.8932T>A (p.Ser2978Thr)
NM_000384.3(APOB):c.9021G>A (p.Met3007Ile)
NM_000384.3(APOB):c.9056G>A (p.Gly3019Glu) rs139751468
NM_000384.3(APOB):c.9060G>T (p.Arg3020Ser)
NM_000384.3(APOB):c.9062A>T (p.His3021Leu)
NM_000384.3(APOB):c.9076A>C (p.Asn3026His)
NM_000384.3(APOB):c.9077A>G (p.Asn3026Ser)
NM_000384.3(APOB):c.9080G>A (p.Gly3027Glu) rs757895045
NM_000384.3(APOB):c.9085G>A (p.Val3029Ile)
NM_000384.3(APOB):c.9092G>C (p.Gly3031Ala)
NM_000384.3(APOB):c.9110T>G (p.Leu3037Arg) rs1490729577
NM_000384.3(APOB):c.9140C>T (p.Thr3047Met) rs61742323
NM_000384.3(APOB):c.9158A>G (p.Glu3053Gly)
NM_000384.3(APOB):c.9173T>G (p.Val3058Gly)
NM_000384.3(APOB):c.9175C>T (p.Arg3059Cys)
NM_000384.3(APOB):c.9196G>A (p.Gly3066Arg)
NM_000384.3(APOB):c.9199A>G (p.Lys3067Glu)
NM_000384.3(APOB):c.919G>A (p.Gly307Ser)
NM_000384.3(APOB):c.9276G>T (p.Arg3092Ser)
NM_000384.3(APOB):c.9318C>G (p.Asn3106Lys)
NM_000384.3(APOB):c.9371A>G (p.Asp3124Gly)
NM_000384.3(APOB):c.9398C>T (p.Pro3133Leu)
NM_000384.3(APOB):c.9430A>G (p.Thr3144Ala)
NM_000384.3(APOB):c.9457T>C (p.Trp3153Arg) rs761484953
NM_000384.3(APOB):c.9498G>C (p.Lys3166Asn)
NM_000384.3(APOB):c.9502T>A (p.Ser3168Thr) rs761382742
NM_000384.3(APOB):c.952C>A (p.Pro318Thr) rs758678209
NM_000384.3(APOB):c.9541A>C (p.Lys3181Gln) rs774329033
NM_000384.3(APOB):c.9547A>G (p.Arg3183Gly)
NM_000384.3(APOB):c.9568T>G (p.Leu3190Val)
NM_000384.3(APOB):c.9616A>G (p.Arg3206Gly)
NM_000384.3(APOB):c.9627A>T (p.Glu3209Asp)
NM_000384.3(APOB):c.962A>C (p.Gln321Pro)
NM_000384.3(APOB):c.9644C>G (p.Ala3215Gly)
NM_000384.3(APOB):c.9667T>C (p.Tyr3223His)
NM_000384.3(APOB):c.9683T>C (p.Ile3228Thr) rs1558561906
NM_000384.3(APOB):c.9698A>T (p.Tyr3233Phe)
NM_000384.3(APOB):c.9706G>C (p.Glu3236Gln)
NM_000384.3(APOB):c.9715C>T (p.His3239Tyr) rs755547544
NM_000384.3(APOB):c.9800T>A (p.Met3267Lys)
NM_000384.3(APOB):c.9824C>T (p.Pro3275Leu)
NM_000384.3(APOB):c.9840G>A (p.Met3280Ile)
NM_000384.3(APOB):c.9840G>C (p.Met3280Ile)
NM_000384.3(APOB):c.9867C>A (p.Asp3289Glu) rs72654404
NM_000384.3(APOB):c.9871C>T (p.Arg3291Cys)
NM_000384.3(APOB):c.9923A>C (p.His3308Pro)
NM_000393.5(COL5A2):c.4096A>G (p.Met1366Val) rs372226064
NM_000432.4(MYL2):c.-1C>T
NM_000432.4(MYL2):c.103A>G (p.Ile35Val) rs730880946
NM_000432.4(MYL2):c.112C>A (p.Gln38Lys)
NM_000432.4(MYL2):c.119G>A (p.Arg40Lys) rs727503299
NM_000432.4(MYL2):c.144T>A (p.Asp48Glu) rs2136774026
NM_000432.4(MYL2):c.185A>C (p.Lys62Thr)
NM_000432.4(MYL2):c.188del (p.Asn63fs) rs1177936172
NM_000432.4(MYL2):c.247C>T (p.Leu83Phe)
NM_000432.4(MYL2):c.253A>G (p.Met85Val) rs1592800281
NM_000432.4(MYL2):c.260G>A (p.Gly87Glu) rs397516399
NM_000432.4(MYL2):c.260G>C (p.Gly87Ala) rs397516399
NM_000432.4(MYL2):c.275G>A (p.Gly92Glu) rs727503297
NM_000432.4(MYL2):c.289G>A (p.Glu97Lys) rs1555257777
NM_000432.4(MYL2):c.298C>T (p.Leu100Phe)
NM_000432.4(MYL2):c.299_309del (p.Leu100fs) rs2071666850
NM_000432.4(MYL2):c.3+1G>T rs730880948
NM_000432.4(MYL2):c.304G>A (p.Ala102Thr) rs369868176
NM_000432.4(MYL2):c.305C>T (p.Ala102Val) rs2071666913
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.4(MYL2):c.328G>A (p.Gly110Ser)
NM_000432.4(MYL2):c.335G>A (p.Gly112Glu)
NM_000432.4(MYL2):c.347C>T (p.Ala116Val) rs1566148270
NM_000432.4(MYL2):c.40A>C (p.Asn14His)
NM_000432.4(MYL2):c.41A>G (p.Asn14Ser)
NM_000432.4(MYL2):c.424T>C (p.Phe142Leu) rs747192296
NM_000432.4(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.4(MYL2):c.431del (p.Pro144fs) rs786205430
NM_000432.4(MYL2):c.442G>A (p.Gly148Ser)
NM_000432.4(MYL2):c.448T>G (p.Leu150Val)
NM_000432.4(MYL2):c.476T>C (p.Ile159Thr)
NM_000432.4(MYL2):c.479C>A (p.Thr160Asn)
NM_000432.4(MYL2):c.479C>G (p.Thr160Ser) rs2071647980
NM_000432.4(MYL2):c.47del (p.Asn16fs) rs781431079
NM_000432.4(MYL2):c.483C>A (p.His161Gln) rs886039108
NM_000432.4(MYL2):c.490G>A (p.Glu164Lys)
NM_000432.4(MYL2):c.493_495del (p.Lys165del)
NM_000432.4(MYL2):c.4G>A (p.Ala2Thr) rs1060499882
NM_000432.4(MYL2):c.50T>C (p.Val17Ala) rs2136777356
NM_000432.4(MYL2):c.61T>G (p.Phe21Val)
NM_000432.4(MYL2):c.64G>T (p.Glu22Ter) rs104894368
NM_000432.4(MYL2):c.7C>T (p.Pro3Ser)
NM_000432.4(MYL2):c.83_93+1del
NM_000432.4(MYL2):c.93+5G>A rs2071703564
NM_000483.5(APOC2):c.101C>T (p.Pro34Leu)
NM_000483.5(APOC2):c.10C>G (p.Arg4Gly)
NM_000483.5(APOC2):c.11G>A (p.Arg4Gln)
NM_000483.5(APOC2):c.163G>A (p.Ala55Thr)
NM_000483.5(APOC2):c.193C>T (p.Pro65Ser)
NM_000483.5(APOC2):c.199G>A (p.Val67Ile)
NM_000483.5(APOC2):c.257C>G (p.Thr86Arg)
NM_000483.5(APOC2):c.262A>C (p.Ile88Leu)
NM_000483.5(APOC2):c.296G>A (p.Gly99Glu)
NM_000483.5(APOC2):c.296G>C (p.Gly99Ala)
NM_000483.5(APOC2):c.4G>C (p.Gly2Arg)
NM_000483.5(APOC2):c.52T>G (p.Phe18Val)
NM_000483.5(APOC2):c.68C>T (p.Thr23Ile)
NM_000483.5(APOC2):c.73C>A (p.Gln25Lys)
NM_000483.5(APOC2):c.83A>G (p.Gln28Arg)
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.5(LDLR):c.1053A>G (p.Arg351=)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1070A>T (p.Glu357Val)
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.5(LDLR):c.10_40delinsCGGGGGCTGGAAATTGCGCTGGACCGTCGCC (p.Trp4_Ala13delinsArgGlyLeuGluIleAlaLeuAspArgArg)
NM_000527.5(LDLR):c.1154T>C (p.Leu385Pro) rs879254809
NM_000527.5(LDLR):c.1177A>G (p.Lys393Glu)
NM_000527.5(LDLR):c.1207T>C (p.Phe403Leu) rs879254831
NM_000527.5(LDLR):c.1224G>C (p.Glu408Asp)
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1304A>G (p.Glu435Gly)
NM_000527.5(LDLR):c.1304A>T (p.Glu435Val)
NM_000527.5(LDLR):c.1333G>T (p.Asp445Tyr)
NM_000527.5(LDLR):c.1358+2T>C rs193922567
NM_000527.5(LDLR):c.1399_1400delinsTA (p.Thr467Tyr)
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.1472C>A (p.Thr491Asn) rs879254917
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1549T>G (p.Ser517Ala)
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val) rs879254943
NM_000527.5(LDLR):c.1587-3C>G
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.5(LDLR):c.1622A>G (p.Lys541Arg)
NM_000527.5(LDLR):c.1664T>G (p.Leu555Arg)
NM_000527.5(LDLR):c.1688C>A (p.Pro563His) rs879254987
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1705G>T (p.Asp569Tyr) rs879254993
NM_000527.5(LDLR):c.1706A>G (p.Asp569Gly)
NM_000527.5(LDLR):c.1721G>A (p.Arg574His)
NM_000527.5(LDLR):c.1723C>T (p.Leu575Phe) rs1205480064
NM_000527.5(LDLR):c.1732G>T (p.Val578Phe) rs1301458707
NM_000527.5(LDLR):c.1744C>T (p.Leu582Phe) rs1131692216
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1821C>G (p.His607Gln)
NM_000527.5(LDLR):c.1834G>C (p.Ala612Pro)
NM_000527.5(LDLR):c.1846-3T>G
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1882A>C (p.Ile628Leu)
NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr) rs879255067
NM_000527.5(LDLR):c.1895A>G (p.Asn632Ser)
NM_000527.5(LDLR):c.1895A>T (p.Asn632Ile) rs1202258257
NM_000527.5(LDLR):c.190+5G>A rs1131692190
NM_000527.5(LDLR):c.190+5G>C
NM_000527.5(LDLR):c.1903A>C (p.Thr635Pro)
NM_000527.5(LDLR):c.1925T>G (p.Leu642Trp)
NM_000527.5(LDLR):c.1945C>T (p.Pro649Ser) rs879255080
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1961T>C (p.Leu654Pro) rs2077526349
NM_000527.5(LDLR):c.1980G>C (p.Gln660His) rs1382517876
NM_000527.5(LDLR):c.1987+1G>A
NM_000527.5(LDLR):c.2034G>T (p.Gln678His)
NM_000527.5(LDLR):c.2045T>C (p.Leu682Pro) rs879255119
NM_000527.5(LDLR):c.2051C>T (p.Ala684Val)
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2114_2120delinsG (p.Ala705_Asp707delinsGly)
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2336G>C (p.Gly779Ala)
NM_000527.5(LDLR):c.2337_2354del (p.Asn780_Ser785del)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2407_2424del (p.Cys803_Leu808del) rs879255201
NM_000527.5(LDLR):c.2447A>G (p.Lys816Arg)
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.5(LDLR):c.2547+5G>A rs879255226
NM_000527.5(LDLR):c.340T>A (p.Phe114Ile) rs776716507
NM_000527.5(LDLR):c.352G>A (p.Asp118Asn) rs730882080
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) rs879254495
NM_000527.5(LDLR):c.379G>A (p.Val127Ile) rs2147223533
NM_000527.5(LDLR):c.406G>A (p.Asp136Asn) rs2077270167
NM_000527.5(LDLR):c.454A>G (p.Ser152Gly)
NM_000527.5(LDLR):c.484C>T (p.Pro162Ser)
NM_000527.5(LDLR):c.508_510del (p.Asp170del)
NM_000527.5(LDLR):c.520G>A (p.Glu174Lys)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.635_643dup (p.Trp214_Arg215insProSerTrp)
NM_000527.5(LDLR):c.666C>T (p.Cys222=) rs756613387
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.845T>A (p.Phe282Tyr)
NM_000527.5(LDLR):c.884T>G (p.Val295Gly)
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.95T>C (p.Phe32Ser) rs879254403
NM_000527.5(LDLR):c.967G>C (p.Gly323Arg)
NM_000719.7(CACNA1C):c.-2C>T
NM_000719.7(CACNA1C):c.1113+3A>G
NM_000719.7(CACNA1C):c.1113+4C>G
NM_000719.7(CACNA1C):c.121G>A (p.Glu41Lys)
NM_000719.7(CACNA1C):c.1252C>T (p.Arg418Trp)
NM_000719.7(CACNA1C):c.127A>C (p.Ile43Leu)
NM_000719.7(CACNA1C):c.1372GAG[1] (p.Glu459del)
NM_000719.7(CACNA1C):c.1394G>A (p.Ser465Asn)
NM_000719.7(CACNA1C):c.13A>C (p.Asn5His) rs886049150
NM_000719.7(CACNA1C):c.1484A>G (p.His495Arg)
NM_000719.7(CACNA1C):c.14A>G (p.Asn5Ser) rs1555075958
NM_000719.7(CACNA1C):c.15_16del (p.Thr6fs) rs786205782
NM_000719.7(CACNA1C):c.1618A>G (p.Thr540Ala)
NM_000719.7(CACNA1C):c.161C>T (p.Ala54Val) rs775019372
NM_000719.7(CACNA1C):c.1694C>T (p.Ala565Val)
NM_000719.7(CACNA1C):c.17C>G (p.Thr6Arg)
NM_000719.7(CACNA1C):c.17C>T (p.Thr6Met)
NM_000719.7(CACNA1C):c.1852G>A (p.Val618Met) rs775536781
NM_000719.7(CACNA1C):c.1895+3A>T
NM_000719.7(CACNA1C):c.2023G>A (p.Gly675Arg)
NM_000719.7(CACNA1C):c.2225-5_2225-2del
NM_000719.7(CACNA1C):c.226G>C (p.Val76Leu)
NM_000719.7(CACNA1C):c.2276C>A (p.Ala759Asp)
NM_000719.7(CACNA1C):c.2284C>T (p.Leu762Phe) rs2061710859
NM_000719.7(CACNA1C):c.2311GAG[1] (p.Glu772del) rs786205770
NM_000719.7(CACNA1C):c.2317_2319del (p.Lys773del) rs786205771
NM_000719.7(CACNA1C):c.2339+5C>A rs554086967
NM_000719.7(CACNA1C):c.2345C>G (p.Ala782Gly)
NM_000719.7(CACNA1C):c.2348G>A (p.Ser783Asn)
NM_000719.7(CACNA1C):c.2386G>C (p.Val796Leu)
NM_000719.7(CACNA1C):c.2399A>C (p.Lys800Thr)
NM_000719.7(CACNA1C):c.2401GAG[1] (p.Glu802del) rs771014370
NM_000719.7(CACNA1C):c.2446C>T (p.Pro816Ser) rs1380611135
NM_000719.7(CACNA1C):c.2455A>G (p.Thr819Ala) rs1453935757
NM_000719.7(CACNA1C):c.2464A>T (p.Asn822Tyr)
NM_000719.7(CACNA1C):c.2512C>T (p.Pro838Ser)
NM_000719.7(CACNA1C):c.2536G>A (p.Glu846Lys) rs1295351612
NM_000719.7(CACNA1C):c.2555A>C (p.Glu852Ala)
NM_000719.7(CACNA1C):c.2615T>C (p.Val872Ala)
NM_000719.7(CACNA1C):c.2664G>C (p.Arg888Ser) rs754046062
NM_000719.7(CACNA1C):c.2794-5T>C rs1568666242
NM_000719.7(CACNA1C):c.2807T>G (p.Phe936Cys) rs762624889
NM_000719.7(CACNA1C):c.2968G>C (p.Ala990Pro)
NM_000719.7(CACNA1C):c.3181A>G (p.Ser1061Gly)
NM_000719.7(CACNA1C):c.3206G>A (p.Cys1069Tyr)
NM_000719.7(CACNA1C):c.3234C>A (p.Asp1078Glu) rs111606207
NM_000719.7(CACNA1C):c.3254_3260dup (p.Gln1087fs)
NM_000719.7(CACNA1C):c.3358C>G (p.Leu1120Val)
NM_000719.7(CACNA1C):c.3368G>A (p.Arg1123His) rs745853358
NM_000719.7(CACNA1C):c.3457A>G (p.Ile1153Val) rs370798052
NM_000719.7(CACNA1C):c.3460G>A (p.Ala1154Thr) rs1601930985
NM_000719.7(CACNA1C):c.3544C>G (p.Leu1182Val)
NM_000719.7(CACNA1C):c.3659A>G (p.Tyr1220Cys)
NM_000719.7(CACNA1C):c.3718-5T>C
NM_000719.7(CACNA1C):c.3862G>T (p.Ala1288Ser)
NM_000719.7(CACNA1C):c.3904G>A (p.Glu1302Lys) rs886038890
NM_000719.7(CACNA1C):c.3950C>T (p.Ala1317Val)
NM_000719.7(CACNA1C):c.4043C>T (p.Thr1348Met)
NM_000719.7(CACNA1C):c.4349G>A (p.Ser1450Asn) rs1009822245
NM_000719.7(CACNA1C):c.4393T>C (p.Phe1465Leu) rs886038809
NM_000719.7(CACNA1C):c.4411T>C (p.Phe1471Leu) rs1555997051
NM_000719.7(CACNA1C):c.4453dup (p.Asp1485fs)
NM_000719.7(CACNA1C):c.4477C>G (p.His1493Asp)
NM_000719.7(CACNA1C):c.4549GTG[1] (p.Val1518del)
NM_000719.7(CACNA1C):c.4597C>G (p.Leu1533Val)
NM_000719.7(CACNA1C):c.4609C>T (p.Arg1537Cys)
NM_000719.7(CACNA1C):c.4666_4669dup (p.Met1557fs) rs2096394881
NM_000719.7(CACNA1C):c.4760C>A (p.Ala1587Glu)
NM_000719.7(CACNA1C):c.4760C>T (p.Ala1587Val) rs751224055
NM_000719.7(CACNA1C):c.4773G>T (p.Lys1591Asn) rs786205763
NM_000719.7(CACNA1C):c.4819C>G (p.Pro1607Ala) rs745938574
NM_000719.7(CACNA1C):c.4828+1G>A rs2153757423
NM_000719.7(CACNA1C):c.4885C>T (p.Arg1629Trp)
NM_000719.7(CACNA1C):c.4886G>A (p.Arg1629Gln)
NM_000719.7(CACNA1C):c.49+3A>G
NM_000719.7(CACNA1C):c.49+5G>A
NM_000719.7(CACNA1C):c.4984G>A (p.Gly1662Arg) rs778011390
NM_000719.7(CACNA1C):c.4996C>T (p.Arg1666Ter)
NM_000719.7(CACNA1C):c.5065GCT[1] (p.Ala1690del) rs1569209887
NM_000719.7(CACNA1C):c.5131C>G (p.Gln1711Glu)
NM_000719.7(CACNA1C):c.5143C>T (p.Arg1715Trp) rs373996684
NM_000719.7(CACNA1C):c.5168C>T (p.Thr1723Ile)
NM_000719.7(CACNA1C):c.5174A>T (p.Gln1725Leu)
NM_000719.7(CACNA1C):c.5180C>T (p.Pro1727Leu) rs2153803252
NM_000719.7(CACNA1C):c.5191A>G (p.Asn1731Asp)
NM_000719.7(CACNA1C):c.5200G>A (p.Gly1734Ser)
NM_000719.7(CACNA1C):c.5213G>A (p.Gly1738Asp)
NM_000719.7(CACNA1C):c.5308G>A (p.Ala1770Thr) rs912150219
NM_000719.7(CACNA1C):c.5347G>T (p.Gly1783Cys) rs781633980
NM_000719.7(CACNA1C):c.5410G>T (p.Val1804Leu)
NM_000719.7(CACNA1C):c.542A>G (p.Tyr181Cys)
NM_000719.7(CACNA1C):c.5431C>T (p.Leu1811Phe)
NM_000719.7(CACNA1C):c.5503G>A (p.Glu1835Lys) rs1060503442
NM_000719.7(CACNA1C):c.5518A>G (p.Lys1840Glu)
NM_000719.7(CACNA1C):c.5564C>T (p.Ser1855Phe)
NM_000719.7(CACNA1C):c.5619GGA[1] (p.Glu1874del) rs757172314
NM_000719.7(CACNA1C):c.5654G>C (p.Arg1885Thr)
NM_000719.7(CACNA1C):c.5665C>A (p.Arg1889Ser)
NM_000719.7(CACNA1C):c.5711_5712del (p.Leu1904fs)
NM_000719.7(CACNA1C):c.5731G>A (p.Gly1911Arg) rs374528680
NM_000719.7(CACNA1C):c.5773G>T (p.Val1925Phe)
NM_000719.7(CACNA1C):c.5798C>G (p.Ala1933Gly)
NM_000719.7(CACNA1C):c.5817C>T (p.Leu1939=)
NM_000719.7(CACNA1C):c.5820G>C (p.Gln1940His)
NM_000719.7(CACNA1C):c.5839T>C (p.Ser1947Pro)
NM_000719.7(CACNA1C):c.5873C>T (p.Thr1958Ile) rs377173230
NM_000719.7(CACNA1C):c.5903C>A (p.Pro1968His) rs2153865329
NM_000719.7(CACNA1C):c.5917C>T (p.Arg1973Trp) rs774402582
NM_000719.7(CACNA1C):c.6029G>T (p.Arg2010Ile)
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile) rs193922615
NM_000719.7(CACNA1C):c.6060_6065del (p.Gln2021_Ala2022del) rs1569288182
NM_000719.7(CACNA1C):c.6068G>A (p.Gly2023Glu) rs377312264
NM_000719.7(CACNA1C):c.6084G>T (p.Gln2028His) rs767141738
NM_000719.7(CACNA1C):c.6097G>A (p.Ala2033Thr)
NM_000719.7(CACNA1C):c.6117+3A>G
NM_000719.7(CACNA1C):c.6172G>A (p.Val2058Ile)
NM_000719.7(CACNA1C):c.619C>A (p.Leu207Ile)
NM_000719.7(CACNA1C):c.6250G>A (p.Gly2084Arg) rs1060503444
NM_000719.7(CACNA1C):c.6273T>G (p.Asn2091Lys)
NM_000719.7(CACNA1C):c.6275G>C (p.Gly2092Ala) rs755430543
NM_000719.7(CACNA1C):c.6303G>T (p.Arg2101Ser)
NM_000719.7(CACNA1C):c.6320G>A (p.Arg2107Gln)
NM_000719.7(CACNA1C):c.6328G>A (p.Gly2110Ser)
NM_000719.7(CACNA1C):c.6329dup (p.Glu2111fs) rs771708175
NM_000719.7(CACNA1C):c.6344G>A (p.Gly2115Asp) rs199694744
NM_000719.7(CACNA1C):c.6353G>A (p.Arg2118His)
NM_000719.7(CACNA1C):c.6355G>A (p.Ala2119Thr) rs1470889027
NM_000719.7(CACNA1C):c.6356C>T (p.Ala2119Val)
NM_000719.7(CACNA1C):c.6371G>A (p.Ser2124Asn) rs886049210
NM_000719.7(CACNA1C):c.6394A>G (p.Arg2132Gly) rs766262489
NM_000719.7(CACNA1C):c.65G>A (p.Ser22Asn)
NM_000719.7(CACNA1C):c.664A>T (p.Asn222Tyr)
NM_000719.7(CACNA1C):c.737G>A (p.Arg246Gln)
NM_000719.7(CACNA1C):c.7_9del (p.Asn3del)
NM_000719.7(CACNA1C):c.847G>A (p.Ala283Thr)
NM_000719.7(CACNA1C):c.856G>A (p.Gly286Ser)
NM_000719.7(CACNA1C):c.922C>T (p.Pro308Ser)
NM_000719.7(CACNA1C):c.950C>T (p.Ala317Val) rs533892755
NM_000719.7(CACNA1C):c.985G>A (p.Gly329Ser) rs786205744
NM_000722.4(CACNA2D1):c.1058A>C (p.Asn353Thr)
NM_000722.4(CACNA2D1):c.1059C>G (p.Asn353Lys)
NM_000722.4(CACNA2D1):c.1144G>A (p.Val382Ile)
NM_000722.4(CACNA2D1):c.1187G>C (p.Arg396Thr)
NM_000722.4(CACNA2D1):c.118A>G (p.Met40Val)
NM_000722.4(CACNA2D1):c.1195A>G (p.Ile399Val)
NM_000722.4(CACNA2D1):c.1231T>C (p.Tyr411His)
NM_000722.4(CACNA2D1):c.1259G>A (p.Arg420Lys) rs886039110
NM_000722.4(CACNA2D1):c.1300A>G (p.Met434Val)
NM_000722.4(CACNA2D1):c.130C>G (p.Leu44Val)
NM_000722.4(CACNA2D1):c.134T>C (p.Val45Ala)
NM_000722.4(CACNA2D1):c.1364A>G (p.Glu455Gly)
NM_000722.4(CACNA2D1):c.1427A>G (p.Lys476Arg)
NM_000722.4(CACNA2D1):c.1459G>T (p.Val487Leu)
NM_000722.4(CACNA2D1):c.1474G>C (p.Val492Leu)
NM_000722.4(CACNA2D1):c.1507C>T (p.Arg503Cys)
NM_000722.4(CACNA2D1):c.1508G>C (p.Arg503Pro)
NM_000722.4(CACNA2D1):c.1576A>G (p.Asn526Asp)
NM_000722.4(CACNA2D1):c.1726C>G (p.Gln576Glu)
NM_000722.4(CACNA2D1):c.1735-5T>C
NM_000722.4(CACNA2D1):c.173T>C (p.Val58Ala)
NM_000722.4(CACNA2D1):c.178A>G (p.Ile60Val)
NM_000722.4(CACNA2D1):c.1832A>G (p.Tyr611Cys)
NM_000722.4(CACNA2D1):c.1841C>T (p.Ala614Val)
NM_000722.4(CACNA2D1):c.1853A>G (p.Glu618Gly)
NM_000722.4(CACNA2D1):c.1873+1G>C
NM_000722.4(CACNA2D1):c.1879_1881del (p.Lys627del)
NM_000722.4(CACNA2D1):c.1882G>A (p.Gly628Ser)
NM_000722.4(CACNA2D1):c.1897T>C (p.Ser633Pro)
NM_000722.4(CACNA2D1):c.2017G>A (p.Glu673Lys)
NM_000722.4(CACNA2D1):c.2033A>G (p.Lys678Arg)
NM_000722.4(CACNA2D1):c.2133G>T (p.Gln711His)
NM_000722.4(CACNA2D1):c.2142C>G (p.Ile714Met) rs745501384
NM_000722.4(CACNA2D1):c.214C>A (p.Pro72Thr)
NM_000722.4(CACNA2D1):c.215C>T (p.Pro72Leu)
NM_000722.4(CACNA2D1):c.2164G>A (p.Val722Ile)
NM_000722.4(CACNA2D1):c.2185A>G (p.Thr729Ala)
NM_000722.4(CACNA2D1):c.218A>G (p.Asn73Ser)
NM_000722.4(CACNA2D1):c.226C>T (p.Arg76Cys)
NM_000722.4(CACNA2D1):c.2275G>A (p.Asp759Asn)
NM_000722.4(CACNA2D1):c.2297C>G (p.Pro766Arg)
NM_000722.4(CACNA2D1):c.2318C>T (p.Pro773Leu) rs772938422
NM_000722.4(CACNA2D1):c.2332T>G (p.Ser778Ala)
NM_000722.4(CACNA2D1):c.2503-5G>T rs2130336971
NM_000722.4(CACNA2D1):c.2572C>T (p.Gln858Ter)
NM_000722.4(CACNA2D1):c.257T>C (p.Ile86Thr)
NM_000722.4(CACNA2D1):c.2642C>G (p.Ala881Gly)
NM_000722.4(CACNA2D1):c.2652A>C (p.Lys884Asn)
NM_000722.4(CACNA2D1):c.2686G>A (p.Ala896Thr)
NM_000722.4(CACNA2D1):c.2713C>T (p.Arg905Cys)
NM_000722.4(CACNA2D1):c.2714G>A (p.Arg905His)
NM_000722.4(CACNA2D1):c.2728C>A (p.Pro910Thr)
NM_000722.4(CACNA2D1):c.2738C>T (p.Ala913Val)
NM_000722.4(CACNA2D1):c.2740G>A (p.Asp914Asn) rs377181609
NM_000722.4(CACNA2D1):c.2800C>T (p.Leu934Phe)
NM_000722.4(CACNA2D1):c.2857T>C (p.Phe953Leu)
NM_000722.4(CACNA2D1):c.2861C>G (p.Thr954Arg)
NM_000722.4(CACNA2D1):c.2891C>A (p.Thr964Asn)
NM_000722.4(CACNA2D1):c.2920G>A (p.Asp974Asn)
NM_000722.4(CACNA2D1):c.2923A>G (p.Ser975Gly)
NM_000722.4(CACNA2D1):c.295C>T (p.Arg99Cys)
NM_000722.4(CACNA2D1):c.2965A>C (p.Arg989=)
NM_000722.4(CACNA2D1):c.2967-3C>A
NM_000722.4(CACNA2D1):c.2992A>G (p.Asn998Asp)
NM_000722.4(CACNA2D1):c.3059T>C (p.Ile1020Thr)
NM_000722.4(CACNA2D1):c.3065C>T (p.Ala1022Val)
NM_000722.4(CACNA2D1):c.3077-4_3077-3del rs773360358
NM_000722.4(CACNA2D1):c.3122G>A (p.Arg1041Gln)
NM_000722.4(CACNA2D1):c.3140_3157dup (p.Val1052_Leu1053insCysPheAspAsnAsnVal)
NM_000722.4(CACNA2D1):c.3170C>G (p.Thr1057Ser) rs2129932628
NM_000722.4(CACNA2D1):c.3185T>G (p.Val1062Gly)
NM_000722.4(CACNA2D1):c.3211T>C (p.Tyr1071His) rs2129931750
NM_000722.4(CACNA2D1):c.3235C>G (p.Leu1079Val) rs780771206
NM_000722.4(CACNA2D1):c.3253G>A (p.Gly1085Ser)
NM_000722.4(CACNA2D1):c.3254G>A (p.Gly1085Asp)
NM_000722.4(CACNA2D1):c.3266G>A (p.Arg1089His) rs143631985
NM_000722.4(CACNA2D1):c.3266G>T (p.Arg1089Leu) rs143631985
NM_000722.4(CACNA2D1):c.3274T>C (p.Ter1092Arg)
NM_000722.4(CACNA2D1):c.35C>T (p.Thr12Ile)
NM_000722.4(CACNA2D1):c.362A>C (p.Glu121Ala)
NM_000722.4(CACNA2D1):c.397-4A>G rs917105846
NM_000722.4(CACNA2D1):c.400G>A (p.Glu134Lys)
NM_000722.4(CACNA2D1):c.415G>C (p.Glu139Gln) rs1554412653
NM_000722.4(CACNA2D1):c.449T>C (p.Ile150Thr)
NM_000722.4(CACNA2D1):c.469C>T (p.Arg157Ter)
NM_000722.4(CACNA2D1):c.475A>C (p.Ile159Leu)
NM_000722.4(CACNA2D1):c.482A>T (p.Tyr161Phe)
NM_000722.4(CACNA2D1):c.550A>G (p.Asn184Asp)
NM_000722.4(CACNA2D1):c.55A>G (p.Ile19Val)
NM_000722.4(CACNA2D1):c.585G>C (p.Lys195Asn) rs1035408693
NM_000722.4(CACNA2D1):c.612G>T (p.Leu204Phe)
NM_000722.4(CACNA2D1):c.658+3A>G
NM_000722.4(CACNA2D1):c.659-5T>C
NM_000722.4(CACNA2D1):c.915G>C (p.Gln305His)
NM_000722.4(CACNA2D1):c.95+3A>G
NM_000784.4(CYP27A1):c.1013A>T (p.Asp338Val)
NM_000784.4(CYP27A1):c.1031T>A (p.Leu344Gln)
NM_000784.4(CYP27A1):c.1086C>A (p.His362Gln) rs139426361
NM_000784.4(CYP27A1):c.1124C>T (p.Pro375Leu)
NM_000784.4(CYP27A1):c.1142C>T (p.Ala381Val)
NM_000784.4(CYP27A1):c.1237G>A (p.Val413Ile)
NM_000784.4(CYP27A1):c.1261A>G (p.Asn421Asp)
NM_000784.4(CYP27A1):c.1273G>C (p.Val425Leu)
NM_000784.4(CYP27A1):c.1282C>T (p.His428Tyr) rs749202662
NM_000784.4(CYP27A1):c.1304C>T (p.Pro435Leu)
NM_000784.4(CYP27A1):c.1306A>G (p.Thr436Ala)
NM_000784.4(CYP27A1):c.130C>T (p.Pro44Ser) rs923201483
NM_000784.4(CYP27A1):c.1432G>A (p.Gly478Ser)
NM_000784.4(CYP27A1):c.1456A>T (p.Met486Leu) rs150585977
NM_000784.4(CYP27A1):c.1460A>G (p.Gln487Arg)
NM_000784.4(CYP27A1):c.1472C>A (p.Ala491Glu)
NM_000784.4(CYP27A1):c.1508C>T (p.Pro503Leu) rs776752717
NM_000784.4(CYP27A1):c.1513A>G (p.Thr505Ala)
NM_000784.4(CYP27A1):c.1514C>A (p.Thr505Lys) rs76822427
NM_000784.4(CYP27A1):c.151C>G (p.Arg51Gly)
NM_000784.4(CYP27A1):c.1547T>A (p.Leu516Gln)
NM_000784.4(CYP27A1):c.1567G>A (p.Gly523Ser)
NM_000784.4(CYP27A1):c.1567G>T (p.Gly523Cys)
NM_000784.4(CYP27A1):c.1589A>G (p.Gln530Arg) rs911127639
NM_000784.4(CYP27A1):c.193C>G (p.Gln65Glu) rs1553614310
NM_000784.4(CYP27A1):c.227G>C (p.Gly76Ala)
NM_000784.4(CYP27A1):c.238C>G (p.Gln80Glu)
NM_000784.4(CYP27A1):c.408C>G (p.His136Gln)
NM_000784.4(CYP27A1):c.421G>A (p.Asp141Asn)
NM_000784.4(CYP27A1):c.470T>C (p.Leu157Pro) rs1270373689
NM_000784.4(CYP27A1):c.481C>G (p.Leu161Val) rs759338714
NM_000784.4(CYP27A1):c.491G>A (p.Arg164Gln) rs148417330
NM_000784.4(CYP27A1):c.559A>G (p.Thr187Ala)
NM_000784.4(CYP27A1):c.55G>A (p.Gly19Ser)
NM_000784.4(CYP27A1):c.599A>G (p.Asn200Ser)
NM_000784.4(CYP27A1):c.628T>C (p.Tyr210His)
NM_000784.4(CYP27A1):c.642G>T (p.Leu214Phe)
NM_000784.4(CYP27A1):c.67C>A (p.His23Asn)
NM_000784.4(CYP27A1):c.721G>T (p.Val241Phe)
NM_000784.4(CYP27A1):c.733G>C (p.Gly245Arg)
NM_000784.4(CYP27A1):c.842T>C (p.Phe281Ser)
NM_000784.4(CYP27A1):c.85G>A (p.Ala29Thr)
NM_000784.4(CYP27A1):c.976A>G (p.Met326Val)
NM_000784.4(CYP27A1):c.993G>C (p.Glu331Asp)
NM_000890.5(KCNJ5):c.1047C>G (p.Asn349Lys)
NM_000890.5(KCNJ5):c.1067A>C (p.Glu356Ala)
NM_000890.5(KCNJ5):c.1096G>C (p.Glu366Gln)
NM_000890.5(KCNJ5):c.110C>T (p.Thr37Ile)
NM_000890.5(KCNJ5):c.116G>A (p.Arg39His)
NM_000890.5(KCNJ5):c.1198C>A (p.Gln400Lys)
NM_000890.5(KCNJ5):c.1206AGA[1] (p.Glu403del)
NM_000890.5(KCNJ5):c.1227G>C (p.Leu409=)
NM_000890.5(KCNJ5):c.1248G>C (p.Arg416Ser) rs930047035
NM_000890.5(KCNJ5):c.1253C>G (p.Ser418Trp)
NM_000890.5(KCNJ5):c.1253C>T (p.Ser418Leu)
NM_000890.5(KCNJ5):c.172G>A (p.Gly58Ser)
NM_000890.5(KCNJ5):c.184G>A (p.Val62Met) rs1389808024
NM_000890.5(KCNJ5):c.18G>T (p.Arg6Ser)
NM_000890.5(KCNJ5):c.283A>T (p.Met95Leu)
NM_000890.5(KCNJ5):c.299C>A (p.Thr100Asn)
NM_000890.5(KCNJ5):c.331A>G (p.Ile111Val)
NM_000890.5(KCNJ5):c.342C>G (p.Ile114Met)
NM_000890.5(KCNJ5):c.365G>A (p.Gly122Asp)
NM_000890.5(KCNJ5):c.437C>A (p.Thr146Asn)
NM_000890.5(KCNJ5):c.483T>G (p.Cys161Trp)
NM_000890.5(KCNJ5):c.487G>A (p.Glu163Lys)
NM_000890.5(KCNJ5):c.546G>T (p.Met182Ile) rs774980501
NM_000890.5(KCNJ5):c.554G>A (p.Cys185Tyr)
NM_000890.5(KCNJ5):c.558G>A (p.Met186Ile)
NM_000890.5(KCNJ5):c.56C>T (p.Pro19Leu)
NM_000890.5(KCNJ5):c.60_61del (p.Trp20_Asp21delinsTer) rs1177055098
NM_000890.5(KCNJ5):c.615C>G (p.Asn205Lys)
NM_000890.5(KCNJ5):c.632G>T (p.Arg211Leu)
NM_000890.5(KCNJ5):c.637G>A (p.Glu213Lys)
NM_000890.5(KCNJ5):c.638A>G (p.Glu213Gly)
NM_000890.5(KCNJ5):c.659G>T (p.Arg220Leu) rs775915273
NM_000890.5(KCNJ5):c.67A>G (p.Lys23Glu)
NM_000890.5(KCNJ5):c.68A>G (p.Lys23Arg)
NM_000890.5(KCNJ5):c.727C>T (p.Gln243Ter)
NM_000890.5(KCNJ5):c.750C>G (p.Ile250Met)
NM_000890.5(KCNJ5):c.775G>A (p.Val259Met)
NM_000890.5(KCNJ5):c.799C>T (p.Arg267Cys)
NM_000890.5(KCNJ5):c.811G>A (p.Val271Met)
NM_000890.5(KCNJ5):c.837G>C (p.Glu279Asp)
NM_000890.5(KCNJ5):c.844C>A (p.Gln282Lys)
NM_000890.5(KCNJ5):c.867G>A (p.Met289Ile)
NM_000890.5(KCNJ5):c.89G>A (p.Arg30His)
NM_000890.5(KCNJ5):c.905T>C (p.Val302Ala)
NM_000890.5(KCNJ5):c.937+4del
NM_000890.5(KCNJ5):c.949C>T (p.Gln317Ter)
NM_000890.5(KCNJ5):c.995G>A (p.Arg332Gln)
NM_000891.3(KCNJ2):c.-1G>A
NM_000891.3(KCNJ2):c.-1G>T
NM_000891.3(KCNJ2):c.1043A>G (p.Tyr348Cys) rs2144377812
NM_000891.3(KCNJ2):c.1063C>T (p.Leu355Phe) rs1411366891
NM_000891.3(KCNJ2):c.1142C>G (p.Ala381Gly)
NM_000891.3(KCNJ2):c.1147A>C (p.Thr383Pro)
NM_000891.3(KCNJ2):c.1221C>A (p.Asp407Glu)
NM_000891.3(KCNJ2):c.1264C>G (p.Arg422Gly)
NM_000891.3(KCNJ2):c.13C>T (p.Arg5Ter) rs1042485
NM_000891.3(KCNJ2):c.171G>T (p.Gln57His)
NM_000891.3(KCNJ2):c.208G>A (p.Ala70Thr) rs375605948
NM_000891.3(KCNJ2):c.21C>G (p.Asn7Lys)
NM_000891.3(KCNJ2):c.226T>C (p.Cys76Arg)
NM_000891.3(KCNJ2):c.235A>G (p.Ile79Val)
NM_000891.3(KCNJ2):c.2T>C (p.Met1Thr) rs786205810
NM_000891.3(KCNJ2):c.365G>A (p.Cys122Tyr) rs1555603931
NM_000891.3(KCNJ2):c.46G>C (p.Glu16Gln)
NM_000891.3(KCNJ2):c.494C>T (p.Ser165Leu)
NM_000891.3(KCNJ2):c.510C>G (p.Ile170Met) rs1555603943
NM_000891.3(KCNJ2):c.786T>A (p.Phe262Leu)
NM_000891.3(KCNJ2):c.819A>G (p.Ile273Met)
NM_000891.3(KCNJ2):c.917C>T (p.Ala306Val)
NM_001005242.3(PKP2):c.-3C>A
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.1048G>A (p.Glu350Lys) rs147264025
NM_001005242.3(PKP2):c.1123A>G (p.Thr375Ala)
NM_001005242.3(PKP2):c.1162C>G (p.Arg388Gly)
NM_001005242.3(PKP2):c.1170+4_1170+7del rs397516988
NM_001005242.3(PKP2):c.1170+5G>A rs794729105
NM_001005242.3(PKP2):c.1184G>C (p.Arg395Pro)
NM_001005242.3(PKP2):c.118C>G (p.Leu40Val) rs1039022167
NM_001005242.3(PKP2):c.1294G>C (p.Glu432Gln) rs1956689490
NM_001005242.3(PKP2):c.130_131delinsCC (p.Ser44Pro)
NM_001005242.3(PKP2):c.1358A>C (p.Glu453Ala)
NM_001005242.3(PKP2):c.1378+5T>C rs767415624
NM_001005242.3(PKP2):c.1379-1994A>G
NM_001005242.3(PKP2):c.1379-1997G>C
NM_001005242.3(PKP2):c.1379-2042G>A
NM_001005242.3(PKP2):c.1379-2045_1379-1738del rs2137836547
NM_001005242.3(PKP2):c.1379-2091A>T
NM_001005242.3(PKP2):c.1395G>C (p.Leu465Phe)
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg) rs749926313
NM_001005242.3(PKP2):c.1515G>T (p.Leu505Phe)
NM_001005242.3(PKP2):c.1523T>G (p.Phe508Cys)
NM_001005242.3(PKP2):c.1594A>T (p.Met532Leu) rs1298544159
NM_001005242.3(PKP2):c.1609G>A (p.Gly537Arg)
NM_001005242.3(PKP2):c.1636G>A (p.Val546Ile) rs1475361697
NM_001005242.3(PKP2):c.164G>T (p.Arg55Leu)
NM_001005242.3(PKP2):c.16G>A (p.Ala6Thr)
NM_001005242.3(PKP2):c.173A>G (p.Glu58Gly)
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn) rs794729112
NM_001005242.3(PKP2):c.176A>G (p.Gln59Arg)
NM_001005242.3(PKP2):c.1788CAA[2] (p.Asn598del) rs750084387
NM_001005242.3(PKP2):c.1795A>G (p.Lys599Glu)
NM_001005242.3(PKP2):c.1804G>A (p.Gly602Arg) rs960192135
NM_001005242.3(PKP2):c.1893G>T (p.Glu631Asp) rs879110663
NM_001005242.3(PKP2):c.1901G>T (p.Trp634Leu) rs1555142907
NM_001005242.3(PKP2):c.1957T>G (p.Tyr653Asp)
NM_001005242.3(PKP2):c.1981G>A (p.Ala661Thr) rs1199864691
NM_001005242.3(PKP2):c.1981G>C (p.Ala661Pro)
NM_001005242.3(PKP2):c.1982C>T (p.Ala661Val)
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met) rs397517016
NM_001005242.3(PKP2):c.199A>G (p.Lys67Glu) rs1555149950
NM_001005242.3(PKP2):c.2003G>A (p.Gly668Glu) rs1348373466
NM_001005242.3(PKP2):c.2006G>A (p.Ser669Asn)
NM_001005242.3(PKP2):c.2017C>A (p.Pro673Thr)
NM_001005242.3(PKP2):c.2024C>T (p.Ser675Leu)
NM_001005242.3(PKP2):c.206G>T (p.Arg69Leu) rs1388260138
NM_001005242.3(PKP2):c.2098A>G (p.Ser700Gly)
NM_001005242.3(PKP2):c.20C>A (p.Pro7Gln)
NM_001005242.3(PKP2):c.2123T>G (p.Leu708Arg)
NM_001005242.3(PKP2):c.2168-4G>C rs376231586
NM_001005242.3(PKP2):c.2171A>G (p.Lys724Arg)
NM_001005242.3(PKP2):c.2203C>G (p.Pro735Ala)
NM_001005242.3(PKP2):c.2222C>T (p.Thr741Ile)
NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn) rs543233804
NM_001005242.3(PKP2):c.224-3C>G rs786204387
NM_001005242.3(PKP2):c.2248T>G (p.Ser750Ala) rs1431341096
NM_001005242.3(PKP2):c.2287T>C (p.Tyr763His)
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys) rs139734328
NM_001005242.3(PKP2):c.230T>C (p.Leu77Pro) rs754446972
NM_001005242.3(PKP2):c.2357+2dup
NM_001005242.3(PKP2):c.2357+5G>A rs1555141020
NM_001005242.3(PKP2):c.2357C>A (p.Ala786Asp) rs1057518582
NM_001005242.3(PKP2):c.2395C>G (p.Leu799Val)
NM_001005242.3(PKP2):c.2429A>T (p.His810Leu) rs886039193
NM_001005242.3(PKP2):c.2485G>T (p.Ala829Ser) rs1046323987
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001005242.3(PKP2):c.253G>C (p.Glu85Gln)
NM_001005242.3(PKP2):c.263A>G (p.Tyr88Cys)
NM_001005242.3(PKP2):c.274T>G (p.Leu92Val) rs773851296
NM_001005242.3(PKP2):c.292G>A (p.Val98Ile)
NM_001005242.3(PKP2):c.296G>A (p.Gly99Glu)
NM_001005242.3(PKP2):c.302G>T (p.Arg101Leu)
NM_001005242.3(PKP2):c.307C>G (p.Pro103Ala) rs139215336
NM_001005242.3(PKP2):c.307C>T (p.Pro103Ser) rs139215336
NM_001005242.3(PKP2):c.323A>G (p.Tyr108Cys)
NM_001005242.3(PKP2):c.32G>A (p.Gly11Asp)
NM_001005242.3(PKP2):c.337-4G>A rs751175344
NM_001005242.3(PKP2):c.365G>T (p.Arg122Leu) rs201306582
NM_001005242.3(PKP2):c.459C>G (p.Asp153Glu)
NM_001005242.3(PKP2):c.529A>G (p.Thr177Ala) rs1956954122
NM_001005242.3(PKP2):c.533T>C (p.Leu178Pro)
NM_001005242.3(PKP2):c.549_551del (p.Ser183del) rs1358236902
NM_001005242.3(PKP2):c.56A>C (p.Gln19Pro)
NM_001005242.3(PKP2):c.592G>A (p.Glu198Lys) rs1040585677
NM_001005242.3(PKP2):c.613G>C (p.Ala205Pro)
NM_001005242.3(PKP2):c.625A>G (p.Ser209Gly)
NM_001005242.3(PKP2):c.629G>A (p.Arg210Lys) rs1555148132
NM_001005242.3(PKP2):c.635G>T (p.Arg212Leu)
NM_001005242.3(PKP2):c.656G>A (p.Arg219Lys)
NM_001005242.3(PKP2):c.671G>T (p.Gly224Val)
NM_001005242.3(PKP2):c.743C>T (p.Thr248Ile)
NM_001005242.3(PKP2):c.749G>T (p.Arg250Leu) rs369332786
NM_001005242.3(PKP2):c.755T>C (p.Met252Thr)
NM_001005242.3(PKP2):c.823G>A (p.Val275Met)
NM_001005242.3(PKP2):c.887A>C (p.His296Pro)
NM_001005242.3(PKP2):c.899C>T (p.Thr300Met) rs553098424
NM_001005242.3(PKP2):c.916C>T (p.Pro306Ser) rs1209340253
NM_001005242.3(PKP2):c.959C>T (p.Thr320Ile)
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.974C>G (p.Ala325Gly)
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>G (p.Ser329Gly) rs779173447
NM_001005242.3(PKP2):c.989G>A (p.Gly330Glu) rs373041797
NM_001005242.3(PKP2):c.991A>G (p.Asn331Asp)
NM_001010874.5(TECRL):c.1004T>C (p.Leu335Ser)
NM_001010874.5(TECRL):c.1006T>A (p.Trp336Arg)
NM_001010874.5(TECRL):c.1009del (p.Ala337fs) rs1461307621
NM_001010874.5(TECRL):c.1013A>C (p.Gln338Pro)
NM_001010874.5(TECRL):c.101A>G (p.His34Arg)
NM_001010874.5(TECRL):c.1027A>T (p.Ile343Phe)
NM_001010874.5(TECRL):c.1073T>A (p.Met358Lys)
NM_001010874.5(TECRL):c.118G>C (p.Val40Leu)
NM_001010874.5(TECRL):c.145A>G (p.Thr49Ala)
NM_001010874.5(TECRL):c.146C>T (p.Thr49Ile)
NM_001010874.5(TECRL):c.148C>T (p.Pro50Ser)
NM_001010874.5(TECRL):c.161A>G (p.His54Arg)
NM_001010874.5(TECRL):c.175C>T (p.His59Tyr)
NM_001010874.5(TECRL):c.179T>G (p.Phe60Cys)
NM_001010874.5(TECRL):c.182A>T (p.Glu61Val)
NM_001010874.5(TECRL):c.197A>G (p.Asp66Gly)
NM_001010874.5(TECRL):c.199G>A (p.Ala67Thr)
NM_001010874.5(TECRL):c.216G>T (p.Gln72His)
NM_001010874.5(TECRL):c.220T>C (p.Cys74Arg)
NM_001010874.5(TECRL):c.221G>A (p.Cys74Tyr)
NM_001010874.5(TECRL):c.229G>C (p.Asp77His)
NM_001010874.5(TECRL):c.22C>A (p.Leu8Ile)
NM_001010874.5(TECRL):c.236T>C (p.Val79Ala)
NM_001010874.5(TECRL):c.238A>G (p.Thr80Ala)
NM_001010874.5(TECRL):c.25G>A (p.Ala9Thr)
NM_001010874.5(TECRL):c.286+3A>G
NM_001010874.5(TECRL):c.286+5G>A
NM_001010874.5(TECRL):c.287-4A>G
NM_001010874.5(TECRL):c.287-5A>C
NM_001010874.5(TECRL):c.325G>A (p.Glu109Lys)
NM_001010874.5(TECRL):c.332-3T>C
NM_001010874.5(TECRL):c.334G>A (p.Gly112Arg)
NM_001010874.5(TECRL):c.338C>A (p.Pro113His)
NM_001010874.5(TECRL):c.353A>G (p.Tyr118Cys)
NM_001010874.5(TECRL):c.35G>T (p.Arg12Leu)
NM_001010874.5(TECRL):c.364C>G (p.Gln122Glu)
NM_001010874.5(TECRL):c.373G>A (p.Ala125Thr)
NM_001010874.5(TECRL):c.377C>G (p.Ala126Gly)
NM_001010874.5(TECRL):c.377C>T (p.Ala126Val)
NM_001010874.5(TECRL):c.403A>G (p.Thr135Ala)
NM_001010874.5(TECRL):c.410T>C (p.Leu137Pro)
NM_001010874.5(TECRL):c.422T>C (p.Val141Ala)
NM_001010874.5(TECRL):c.435+3_435+6del
NM_001010874.5(TECRL):c.43G>A (p.Ala15Thr)
NM_001010874.5(TECRL):c.452A>G (p.Tyr151Cys)
NM_001010874.5(TECRL):c.455C>T (p.Thr152Ile)
NM_001010874.5(TECRL):c.457G>C (p.Gly153Arg)
NM_001010874.5(TECRL):c.463C>G (p.Leu155Val)
NM_001010874.5(TECRL):c.523G>A (p.Ala175Thr)
NM_001010874.5(TECRL):c.551+4A>G
NM_001010874.5(TECRL):c.560G>T (p.Cys187Phe)
NM_001010874.5(TECRL):c.569A>G (p.His190Arg)
NM_001010874.5(TECRL):c.632A>C (p.His211Pro)
NM_001010874.5(TECRL):c.637C>T (p.Pro213Ser)
NM_001010874.5(TECRL):c.652A>G (p.Ile218Val)
NM_001010874.5(TECRL):c.658-5T>C
NM_001010874.5(TECRL):c.665C>T (p.Ala222Val)
NM_001010874.5(TECRL):c.686C>G (p.Ser229Cys)
NM_001010874.5(TECRL):c.700T>C (p.Tyr234His)
NM_001010874.5(TECRL):c.703A>G (p.Ile235Val)
NM_001010874.5(TECRL):c.708T>G (p.Asn236Lys)
NM_001010874.5(TECRL):c.709C>A (p.His237Asn)
NM_001010874.5(TECRL):c.70T>C (p.Phe24Leu)
NM_001010874.5(TECRL):c.774+4T>C
NM_001010874.5(TECRL):c.774G>C (p.Leu258=)
NM_001010874.5(TECRL):c.806T>C (p.Val269Ala)
NM_001010874.5(TECRL):c.819T>A (p.His273Gln)
NM_001010874.5(TECRL):c.824A>G (p.Asn275Ser)
NM_001010874.5(TECRL):c.830C>A (p.Thr277Lys)
NM_001010874.5(TECRL):c.832+3del
NM_001010874.5(TECRL):c.832G>A (p.Gly278Arg)
NM_001010874.5(TECRL):c.835A>G (p.Asn279Asp)
NM_001010874.5(TECRL):c.844T>G (p.Cys282Gly)
NM_001010874.5(TECRL):c.854G>A (p.Ser285Asn)
NM_001010874.5(TECRL):c.874A>T (p.Thr292Ser)
NM_001010874.5(TECRL):c.90G>A (p.Met30Ile)
NM_001010874.5(TECRL):c.90G>C (p.Met30Ile)
NM_001010874.5(TECRL):c.915T>G (p.Tyr305Ter)
NM_001010874.5(TECRL):c.920T>C (p.Ile307Thr)
NM_001010874.5(TECRL):c.928T>A (p.Trp310Arg)
NM_001010874.5(TECRL):c.956C>T (p.Thr319Ile)
NM_001010874.5(TECRL):c.985A>T (p.Met329Leu)
NM_001010874.5(TECRL):c.998T>A (p.Met333Lys)
NM_001018005.2(TPM1):c.115-3C>T
NM_001018005.2(TPM1):c.130G>A (p.Val44Met)
NM_001018005.2(TPM1):c.157A>T (p.Thr53Ser)
NM_001018005.2(TPM1):c.164A>G (p.Asp55Gly) rs1566937759
NM_001018005.2(TPM1):c.187G>A (p.Ala63Thr) rs1064796782
NM_001018005.2(TPM1):c.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.196G>C (p.Asp66His) rs2031866819
NM_001018005.2(TPM1):c.1A>G (p.Met1Val) rs367543668
NM_001018005.2(TPM1):c.215A>G (p.Glu72Gly) rs1358909905
NM_001018005.2(TPM1):c.238G>A (p.Asp80Asn)
NM_001018005.2(TPM1):c.23T>C (p.Met8Thr)
NM_001018005.2(TPM1):c.240+1G>A rs730881146
NM_001018005.2(TPM1):c.240+3A>C rs1555403436
NM_001018005.2(TPM1):c.242C>T (p.Ala81Val) rs1596360642
NM_001018005.2(TPM1):c.25C>A (p.Gln9Lys) rs730881149
NM_001018005.2(TPM1):c.267C>G (p.Asn89Lys) rs1085307487
NM_001018005.2(TPM1):c.271C>T (p.Arg91Cys) rs1266444831
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) rs199476310
NM_001018005.2(TPM1):c.280C>A (p.Leu94Met)
NM_001018005.2(TPM1):c.311A>G (p.Glu104Gly)
NM_001018005.2(TPM1):c.313C>T (p.Arg105Cys)
NM_001018005.2(TPM1):c.369T>A (p.Ser123Arg)
NM_001018005.2(TPM1):c.371A>G (p.Glu124Gly)
NM_001018005.2(TPM1):c.377G>C (p.Gly126Ala)
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.421A>G (p.Met141Val) rs2035311298
NM_001018005.2(TPM1):c.425A>G (p.Glu142Gly)
NM_001018005.2(TPM1):c.470A>C (p.Asp157Ala)
NM_001018005.2(TPM1):c.499dup (p.Arg167fs) rs1596377768
NM_001018005.2(TPM1):c.49A>C (p.Asn17His)
NM_001018005.2(TPM1):c.514A>T (p.Ile172Phe) rs760374266
NM_001018005.2(TPM1):c.524A>G (p.Asp175Gly) rs886039024
NM_001018005.2(TPM1):c.568T>C (p.Cys190Arg) rs730881139
NM_001018005.2(TPM1):c.568T>G (p.Cys190Gly)
NM_001018005.2(TPM1):c.575A>G (p.Glu192Gly)
NM_001018005.2(TPM1):c.57G>T (p.Leu19Phe)
NM_001018005.2(TPM1):c.583G>A (p.Glu195Lys) rs1555409508
NM_001018005.2(TPM1):c.592A>G (p.Lys198Glu) rs730881140
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met) rs730881141
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.2(TPM1):c.639G>C (p.Lys213Asn)
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001018005.2(TPM1):c.723T>G (p.Phe241Leu)
NM_001018005.2(TPM1):c.729G>C (p.Glu243Asp)
NM_001018005.2(TPM1):c.752A>C (p.Lys251Thr)
NM_001018005.2(TPM1):c.755G>A (p.Ser252Asn)
NM_001018005.2(TPM1):c.803A>G (p.Lys268Arg)
NM_001018005.2(TPM1):c.851T>C (p.Ile284Thr) rs745520822
NM_001018005.2(TPM1):c.852A>T (p.Ile284=) rs759481997
NM_001018005.2(TPM1):c.94G>T (p.Ala32Ser) rs2140596321
NM_001035.3(RYR2):c.10035G>C (p.Arg3345Ser) rs754976419
NM_001035.3(RYR2):c.10040dup (p.Asp3347fs)
NM_001035.3(RYR2):c.10043T>G (p.Met3348Arg) rs794728767
NM_001035.3(RYR2):c.10046C>T (p.Ser3349Leu) rs786205455
NM_001035.3(RYR2):c.1004A>G (p.Lys335Arg)
NM_001035.3(RYR2):c.10067T>A (p.Leu3356Gln)
NM_001035.3(RYR2):c.10139A>G (p.Asn3380Ser)
NM_001035.3(RYR2):c.10174_10175delinsAG (p.Ala3392Arg)
NM_001035.3(RYR2):c.10190G>T (p.Arg3397Leu) rs753630324
NM_001035.3(RYR2):c.10204G>A (p.Val3402Met)
NM_001035.3(RYR2):c.10265A>G (p.Gln3422Arg)
NM_001035.3(RYR2):c.10324-3T>C
NM_001035.3(RYR2):c.10336G>A (p.Asp3446Asn)
NM_001035.3(RYR2):c.103C>G (p.Leu35Val) rs1689577425
NM_001035.3(RYR2):c.10402G>A (p.Ala3468Thr)
NM_001035.3(RYR2):c.10439T>C (p.Ile3480Thr)
NM_001035.3(RYR2):c.10501_10503delinsGCT (p.Thr3501Ala) rs2149105212
NM_001035.3(RYR2):c.10508A>G (p.Asp3503Gly)
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.10555-3C>A
NM_001035.3(RYR2):c.10555-3C>T rs1202806553
NM_001035.3(RYR2):c.10631C>T (p.Pro3544Leu) rs752032924
NM_001035.3(RYR2):c.10647A>T (p.Glu3549Asp)
NM_001035.3(RYR2):c.10648A>G (p.Arg3550Gly) rs1553300589
NM_001035.3(RYR2):c.10663G>T (p.Ala3555Ser)
NM_001035.3(RYR2):c.10711A>T (p.Arg3571Ter)
NM_001035.3(RYR2):c.10712G>A (p.Arg3571Lys)
NM_001035.3(RYR2):c.10762C>T (p.His3588Tyr)
NM_001035.3(RYR2):c.10838+3C>T rs1417807379
NM_001035.3(RYR2):c.10886T>C (p.Ile3629Thr)
NM_001035.3(RYR2):c.10934C>T (p.Ala3645Val)
NM_001035.3(RYR2):c.10952C>T (p.Pro3651Leu)
NM_001035.3(RYR2):c.10963G>C (p.Asp3655His)
NM_001035.3(RYR2):c.10975A>T (p.Lys3659Ter)
NM_001035.3(RYR2):c.10980A>C (p.Arg3660Ser)
NM_001035.3(RYR2):c.10993C>T (p.His3665Tyr) rs1374577335
NM_001035.3(RYR2):c.10999C>G (p.Leu3667Val)
NM_001035.3(RYR2):c.11150A>G (p.Lys3717Arg) rs1060500141
NM_001035.3(RYR2):c.11152G>A (p.Glu3718Lys) rs886039201
NM_001035.3(RYR2):c.11217G>A (p.Met3739Ile) rs397516502
NM_001035.3(RYR2):c.1121A>G (p.Tyr374Cys)
NM_001035.3(RYR2):c.11226_11229del (p.Thr3743fs)
NM_001035.3(RYR2):c.11293A>G (p.Ile3765Val) rs767346230
NM_001035.3(RYR2):c.112G>A (p.Ala38Thr) rs747977592
NM_001035.3(RYR2):c.11331G>A (p.Met3777Ile)
NM_001035.3(RYR2):c.11399G>T (p.Cys3800Phe) rs1239093704
NM_001035.3(RYR2):c.11429G>A (p.Arg3810Gln)
NM_001035.3(RYR2):c.11509T>A (p.Cys3837Ser)
NM_001035.3(RYR2):c.11522G>A (p.Arg3841Gln) rs1553317322
NM_001035.3(RYR2):c.11557+3T>C
NM_001035.3(RYR2):c.11587G>A (p.Gly3863Ser) rs886039194
NM_001035.3(RYR2):c.11605A>G (p.Asn3869Asp) rs886039074
NM_001035.3(RYR2):c.1166G>C (p.Arg389Pro) rs200685968
NM_001035.3(RYR2):c.1171-5T>G
NM_001035.3(RYR2):c.11765A>G (p.Glu3922Gly)
NM_001035.3(RYR2):c.11776-5T>C
NM_001035.3(RYR2):c.11782T>C (p.Cys3928Arg)
NM_001035.3(RYR2):c.11868G>T (p.Met3956Ile)
NM_001035.3(RYR2):c.11880+3_11880+6del rs1694864201
NM_001035.3(RYR2):c.11908G>A (p.Glu3970Lys)
NM_001035.3(RYR2):c.11919T>G (p.Asp3973Glu) rs370103782
NM_001035.3(RYR2):c.1193A>C (p.His398Pro)
NM_001035.3(RYR2):c.11965A>C (p.Asn3989His) rs794728779
NM_001035.3(RYR2):c.11G>T (p.Gly4Val) rs866878858
NM_001035.3(RYR2):c.12019T>G (p.Ser4007Ala)
NM_001035.3(RYR2):c.12056T>C (p.Met4019Thr) rs886039150
NM_001035.3(RYR2):c.12134A>G (p.Lys4045Arg)
NM_001035.3(RYR2):c.12170A>T (p.His4057Leu)
NM_001035.3(RYR2):c.12180G>C (p.Gln4060His)
NM_001035.3(RYR2):c.121G>A (p.Gly41Arg)
NM_001035.3(RYR2):c.12209C>T (p.Ala4070Val)
NM_001035.3(RYR2):c.12278A>G (p.Asp4093Gly) rs2149353168
NM_001035.3(RYR2):c.12325A>C (p.Met4109Leu) rs730880196
NM_001035.3(RYR2):c.12369G>T (p.Glu4123Asp) rs759484925
NM_001035.3(RYR2):c.12415A>G (p.Met4139Val) rs1199657338
NM_001035.3(RYR2):c.12437A>G (p.Glu4146Gly) rs1553322833
NM_001035.3(RYR2):c.1250G>T (p.Arg417Leu) rs751428303
NM_001035.3(RYR2):c.12526G>A (p.Val4176Met) rs794728828
NM_001035.3(RYR2):c.12535G>A (p.Glu4179Lys) rs867488053
NM_001035.3(RYR2):c.12565T>C (p.Phe4189Leu)
NM_001035.3(RYR2):c.12626C>T (p.Ser4209Leu)
NM_001035.3(RYR2):c.12647C>A (p.Ala4216Glu)
NM_001035.3(RYR2):c.1264A>G (p.Thr422Ala) rs1350054663
NM_001035.3(RYR2):c.12667_12669del (p.Lys4223del) rs794728838
NM_001035.3(RYR2):c.12685C>T (p.Gln4229Ter) rs1553323067
NM_001035.3(RYR2):c.12697A>G (p.Met4233Val) rs2149354852
NM_001035.3(RYR2):c.12874A>C (p.Met4292Leu)
NM_001035.3(RYR2):c.12898_12909del (p.Ser4300_Arg4303del)
NM_001035.3(RYR2):c.12956T>A (p.Val4319Asp)
NM_001035.3(RYR2):c.12980T>C (p.Val4327Ala)
NM_001035.3(RYR2):c.13012A>G (p.Thr4338Ala)
NM_001035.3(RYR2):c.13035T>A (p.Asp4345Glu)
NM_001035.3(RYR2):c.13040AGG[1] (p.Glu4348del)
NM_001035.3(RYR2):c.13081G>C (p.Glu4361Gln)
NM_001035.3(RYR2):c.13207A>G (p.Ser4403Gly)
NM_001035.3(RYR2):c.13229T>C (p.Val4410Ala) rs748604898
NM_001035.3(RYR2):c.13261-4C>A
NM_001035.3(RYR2):c.13280A>T (p.Glu4427Val)
NM_001035.3(RYR2):c.13284_13286dup (p.Lys4429_Glu4430insLys)
NM_001035.3(RYR2):c.13295_13303del (p.4429KEE[1])
NM_001035.3(RYR2):c.13297GAA[1] (p.Glu4434del)
NM_001035.3(RYR2):c.13327G>T (p.Glu4443Ter)
NM_001035.3(RYR2):c.13328+4T>C rs1356215434
NM_001035.3(RYR2):c.1336G>T (p.Asp446Tyr)
NM_001035.3(RYR2):c.13426C>T (p.Pro4476Ser) rs1277251368
NM_001035.3(RYR2):c.13573TCT[1] (p.Ser4526del) rs749495172
NM_001035.3(RYR2):c.13597C>T (p.Leu4533Phe)
NM_001035.3(RYR2):c.13603A>G (p.Thr4535Ala)
NM_001035.3(RYR2):c.13617T>G (p.Ser4539Arg) rs1553327067
NM_001035.3(RYR2):c.13625C>G (p.Ala4542Gly)
NM_001035.3(RYR2):c.13637G>A (p.Ser4546Asn)
NM_001035.3(RYR2):c.13651T>A (p.Ser4551Thr)
NM_001035.3(RYR2):c.13666G>C (p.Ala4556Pro) rs189345192
NM_001035.3(RYR2):c.13763T>C (p.Ile4588Thr) rs876661386
NM_001035.3(RYR2):c.13808A>C (p.Glu4603Ala)
NM_001035.3(RYR2):c.13822C>T (p.Arg4608Trp) rs794728799
NM_001035.3(RYR2):c.13858C>T (p.Gln4620Ter) rs1359207411
NM_001035.3(RYR2):c.13873G>T (p.Asp4625Tyr)
NM_001035.3(RYR2):c.1388T>A (p.Phe463Tyr)
NM_001035.3(RYR2):c.13897C>G (p.Leu4633Val) rs1484013155
NM_001035.3(RYR2):c.13924A>G (p.Asn4642Asp) rs865812612
NM_001035.3(RYR2):c.13957G>A (p.Val4653Ile)
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.14008C>G (p.Leu4670Val)
NM_001035.3(RYR2):c.14014A>G (p.Met4672Val) rs1423265074
NM_001035.3(RYR2):c.14062C>G (p.Pro4688Ala) rs1659493419
NM_001035.3(RYR2):c.14083T>C (p.Ser4695Pro)
NM_001035.3(RYR2):c.14090T>C (p.Val4697Ala)
NM_001035.3(RYR2):c.14121G>A (p.Met4707Ile) rs1660018312
NM_001035.3(RYR2):c.14136C>A (p.Val4712=) rs756435572
NM_001035.3(RYR2):c.14182A>G (p.Met4728Val) rs562116040
NM_001035.3(RYR2):c.14192T>C (p.Leu4731Pro)
NM_001035.3(RYR2):c.14201A>G (p.Tyr4734Cys) rs1660616083
NM_001035.3(RYR2):c.14219C>G (p.Ala4740Gly)
NM_001035.3(RYR2):c.14246G>T (p.Gly4749Val) rs1558457775
NM_001035.3(RYR2):c.14393A>G (p.Asp4798Gly)
NM_001035.3(RYR2):c.1452T>A (p.Asn484Lys) rs1195833247
NM_001035.3(RYR2):c.1453C>T (p.Arg485Trp) rs766420655
NM_001035.3(RYR2):c.14591G>C (p.Gly4864Ala)
NM_001035.3(RYR2):c.14637A>C (p.Gln4879His) rs1553341953
NM_001035.3(RYR2):c.14643AGA[1] (p.Glu4882del)
NM_001035.3(RYR2):c.14666T>G (p.Phe4889Cys)
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001035.3(RYR2):c.14718A>C (p.Glu4906Asp) rs1553342497
NM_001035.3(RYR2):c.14756+3G>A rs1057523295
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr) rs1663793007
NM_001035.3(RYR2):c.14803G>A (p.Gly4935Arg)
NM_001035.3(RYR2):c.14848G>C (p.Glu4950Gln) rs886039172
NM_001035.3(RYR2):c.14885dup (p.Tyr4962Ter)
NM_001035.3(RYR2):c.14G>A (p.Gly5Asp) rs1660034518
NM_001035.3(RYR2):c.1517A>C (p.His506Pro)
NM_001035.3(RYR2):c.1559G>T (p.Arg520Leu) rs564957172
NM_001035.3(RYR2):c.1641C>A (p.Asn547Lys) rs794728722
NM_001035.3(RYR2):c.175C>T (p.Pro59Ser) rs1553405121
NM_001035.3(RYR2):c.1772A>T (p.Glu591Val)
NM_001035.3(RYR2):c.1792A>G (p.Ile598Val)
NM_001035.3(RYR2):c.184C>T (p.Leu62Phe) rs794728813
NM_001035.3(RYR2):c.1888C>A (p.His630Asn) rs1195734687
NM_001035.3(RYR2):c.1923C>G (p.Asp641Glu)
NM_001035.3(RYR2):c.19G>A (p.Gly7Ser) rs779910353
NM_001035.3(RYR2):c.2042A>G (p.His681Arg) rs1344581490
NM_001035.3(RYR2):c.2080C>G (p.Arg694Gly)
NM_001035.3(RYR2):c.2083G>C (p.Val695Leu)
NM_001035.3(RYR2):c.2203+5G>A rs766288440
NM_001035.3(RYR2):c.2203+5G>T
NM_001035.3(RYR2):c.2203G>C (p.Gly735Arg) rs1442111387
NM_001035.3(RYR2):c.220T>C (p.Ser74Pro)
NM_001035.3(RYR2):c.2225G>C (p.Ser742Thr)
NM_001035.3(RYR2):c.2293A>C (p.Ser765Arg) rs748603282
NM_001035.3(RYR2):c.2302T>C (p.Phe768Leu) rs751507066
NM_001035.3(RYR2):c.2308A>G (p.Ile770Val)
NM_001035.3(RYR2):c.2401C>T (p.Arg801Cys) rs940667860
NM_001035.3(RYR2):c.261G>T (p.Glu87Asp)
NM_001035.3(RYR2):c.2716C>G (p.Pro906Ala) rs754520058
NM_001035.3(RYR2):c.279T>A (p.Val93=) rs1037732490
NM_001035.3(RYR2):c.2915T>C (p.Leu972Pro)
NM_001035.3(RYR2):c.2923G>A (p.Gly975Arg)
NM_001035.3(RYR2):c.295-5T>C rs1553420541
NM_001035.3(RYR2):c.2951G>C (p.Ser984Thr)
NM_001035.3(RYR2):c.2972_2973inv (p.Ser991Leu)
NM_001035.3(RYR2):c.29A>C (p.Glu10Ala) rs1027423344
NM_001035.3(RYR2):c.3031C>T (p.Arg1011Ter)
NM_001035.3(RYR2):c.3036C>G (p.Ile1012Met)
NM_001035.3(RYR2):c.304A>G (p.Met102Val)
NM_001035.3(RYR2):c.3058A>G (p.Ile1020Val)
NM_001035.3(RYR2):c.3064del (p.Gln1022fs)
NM_001035.3(RYR2):c.3065A>G (p.Gln1022Arg) rs761384379
NM_001035.3(RYR2):c.309+5G>T rs794728695
NM_001035.3(RYR2):c.3137A>G (p.Asn1046Ser)
NM_001035.3(RYR2):c.3182G>C (p.Gly1061Ala) rs373083911
NM_001035.3(RYR2):c.3230T>G (p.Val1077Gly)
NM_001035.3(RYR2):c.3257G>A (p.Arg1086Gln) rs749566870
NM_001035.3(RYR2):c.3293C>T (p.Ala1098Val) rs1318943750
NM_001035.3(RYR2):c.32T>C (p.Ile11Thr) rs794728760
NM_001035.3(RYR2):c.332G>A (p.Arg111Gln)
NM_001035.3(RYR2):c.3361G>A (p.Gly1121Ser)
NM_001035.3(RYR2):c.3371C>T (p.Pro1124Leu) rs779640835
NM_001035.3(RYR2):c.3398G>A (p.Arg1133His) rs374397612
NM_001035.3(RYR2):c.3495G>T (p.Met1165Ile)
NM_001035.3(RYR2):c.3497T>C (p.Val1166Ala)
NM_001035.3(RYR2):c.3508G>A (p.Glu1170Lys) rs772236215
NM_001035.3(RYR2):c.3522G>A (p.Met1174Ile)
NM_001035.3(RYR2):c.356T>C (p.Ile119Thr) rs1700481043
NM_001035.3(RYR2):c.3586G>T (p.Asp1196Tyr)
NM_001035.3(RYR2):c.3599-3C>T
NM_001035.3(RYR2):c.3721G>C (p.Val1241Leu)
NM_001035.3(RYR2):c.3760A>G (p.Arg1254Gly) rs748217122
NM_001035.3(RYR2):c.3761G>A (p.Arg1254Lys)
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu) rs794728761
NM_001035.3(RYR2):c.3807+4T>A rs1572996258
NM_001035.3(RYR2):c.3808-5G>C rs776405427
NM_001035.3(RYR2):c.383T>C (p.Met128Thr) rs886038887
NM_001035.3(RYR2):c.3842C>A (p.Pro1281Gln)
NM_001035.3(RYR2):c.3946A>G (p.Lys1316Glu) rs1675067457
NM_001035.3(RYR2):c.3949A>G (p.Thr1317Ala) rs1553514981
NM_001035.3(RYR2):c.3950C>G (p.Thr1317Arg)
NM_001035.3(RYR2):c.3965T>C (p.Leu1322Pro)
NM_001035.3(RYR2):c.4000T>G (p.Leu1334Val)
NM_001035.3(RYR2):c.4073G>A (p.Arg1358His) rs1675084862
NM_001035.3(RYR2):c.4160+4A>T
NM_001035.3(RYR2):c.4219G>A (p.Glu1407Lys) rs1420999217
NM_001035.3(RYR2):c.4295T>A (p.Ile1432Asn)
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.4381A>G (p.Arg1461Gly)
NM_001035.3(RYR2):c.4459A>G (p.Met1487Val) rs1278512393
NM_001035.3(RYR2):c.4463T>C (p.Val1488Ala)
NM_001035.3(RYR2):c.4519A>G (p.Ile1507Val)
NM_001035.3(RYR2):c.4596+5G>A rs1453761148
NM_001035.3(RYR2):c.4597G>A (p.Val1533Met)
NM_001035.3(RYR2):c.4625C>T (p.Ala1542Val)
NM_001035.3(RYR2):c.4672G>A (p.Gly1558Arg)
NM_001035.3(RYR2):c.4702G>A (p.Ala1568Thr)
NM_001035.3(RYR2):c.4703C>T (p.Ala1568Val) rs955021407
NM_001035.3(RYR2):c.4733C>T (p.Pro1578Leu)
NM_001035.3(RYR2):c.4799C>T (p.Pro1600Leu) rs759952370
NM_001035.3(RYR2):c.4851G>T (p.Trp1617Cys)
NM_001035.3(RYR2):c.485_489dup (p.Pro164fs) rs1553426652
NM_001035.3(RYR2):c.4867G>C (p.Asp1623His)
NM_001035.3(RYR2):c.4886C>T (p.Ser1629Phe)
NM_001035.3(RYR2):c.4912T>A (p.Ser1638Thr) rs794728739
NM_001035.3(RYR2):c.4990G>T (p.Val1664Phe) rs749434532
NM_001035.3(RYR2):c.5011C>G (p.Arg1671Gly)
NM_001035.3(RYR2):c.5047C>G (p.Pro1683Ala)
NM_001035.3(RYR2):c.5091G>T (p.Leu1697Phe)
NM_001035.3(RYR2):c.5154G>C (p.Arg1718Ser) rs114534505
NM_001035.3(RYR2):c.5168A>G (p.Asn1723Ser) rs2148594785
NM_001035.3(RYR2):c.5171A>T (p.Glu1724Val)
NM_001035.3(RYR2):c.5218C>T (p.Pro1740Ser)
NM_001035.3(RYR2):c.5279G>C (p.Arg1760Pro) rs765106198
NM_001035.3(RYR2):c.5285A>G (p.Gln1762Arg)
NM_001035.3(RYR2):c.5291C>T (p.Ser1764Phe) rs1678236675
NM_001035.3(RYR2):c.5335A>C (p.Ser1779Arg)
NM_001035.3(RYR2):c.5414A>G (p.His1805Arg) rs759774382
NM_001035.3(RYR2):c.5417C>T (p.Ala1806Val) rs1415713582
NM_001035.3(RYR2):c.5440A>G (p.Thr1814Ala)
NM_001035.3(RYR2):c.5524A>T (p.Ile1842Phe) rs1553522483
NM_001035.3(RYR2):c.5569C>A (p.Pro1857Thr)
NM_001035.3(RYR2):c.5653G>C (p.Gly1885Arg) rs200197527
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.5660A>T (p.Lys1887Met)
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln) rs869025511
NM_001035.3(RYR2):c.5675G>A (p.Gly1892Asp)
NM_001035.3(RYR2):c.5716-5C>G
NM_001035.3(RYR2):c.5776G>A (p.Val1926Ile)
NM_001035.3(RYR2):c.577C>T (p.His193Tyr)
NM_001035.3(RYR2):c.5806C>A (p.Leu1936Ile) rs2148613988
NM_001035.3(RYR2):c.5811A>T (p.Gln1937His)
NM_001035.3(RYR2):c.5895T>G (p.Phe1965Leu)
NM_001035.3(RYR2):c.5945_5950del (p.Asp1982_Ser1984delinsGly)
NM_001035.3(RYR2):c.598A>G (p.Ser200Gly)
NM_001035.3(RYR2):c.6031C>G (p.Leu2011Val) rs751426174
NM_001035.3(RYR2):c.6077G>C (p.Arg2026Thr)
NM_001035.3(RYR2):c.6134A>G (p.Glu2045Gly) rs878854160
NM_001035.3(RYR2):c.6150T>G (p.Ser2050Arg) rs371310419
NM_001035.3(RYR2):c.6166T>C (p.Ser2056Pro)
NM_001035.3(RYR2):c.6167-1G>A
NM_001035.3(RYR2):c.623A>G (p.Gln208Arg)
NM_001035.3(RYR2):c.6250A>G (p.Met2084Val) rs1553531464
NM_001035.3(RYR2):c.6269G>T (p.Arg2090Leu)
NM_001035.3(RYR2):c.6289G>T (p.Gly2097Cys)
NM_001035.3(RYR2):c.6298C>T (p.Arg2100Trp) rs753164125
NM_001035.3(RYR2):c.6327T>A (p.Asn2109Lys)
NM_001035.3(RYR2):c.6379C>T (p.Arg2127Trp)
NM_001035.3(RYR2):c.6386T>C (p.Leu2129Pro)
NM_001035.3(RYR2):c.640G>A (p.Val214Met) rs1036926941
NM_001035.3(RYR2):c.640G>C (p.Val214Leu)
NM_001035.3(RYR2):c.647C>A (p.Pro216Gln)
NM_001035.3(RYR2):c.6530A>T (p.Asn2177Ile) rs1553534276
NM_001035.3(RYR2):c.6531C>G (p.Asn2177Lys) rs757298566
NM_001035.3(RYR2):c.6585C>G (p.Asn2195Lys) rs2148700748
NM_001035.3(RYR2):c.6614G>A (p.Arg2205His)
NM_001035.3(RYR2):c.6688+3A>G
NM_001035.3(RYR2):c.6689-3T>A rs886046272
NM_001035.3(RYR2):c.6792G>C (p.Lys2264Asn) rs1680728738
NM_001035.3(RYR2):c.6793-4G>A rs568936247
NM_001035.3(RYR2):c.6793-4G>T rs568936247
NM_001035.3(RYR2):c.6811G>T (p.Gly2271Cys) rs375371340
NM_001035.3(RYR2):c.6841G>A (p.Val2281Met)
NM_001035.3(RYR2):c.6856C>T (p.Pro2286Ser)
NM_001035.3(RYR2):c.6870G>T (p.Trp2290Cys)
NM_001035.3(RYR2):c.6921C>G (p.Phe2307Leu)
NM_001035.3(RYR2):c.6950C>T (p.Ala2317Val) rs794728750
NM_001035.3(RYR2):c.6994G>T (p.Gly2332Cys) rs766508848
NM_001035.3(RYR2):c.7009G>A (p.Gly2337Arg) rs1553263875
NM_001035.3(RYR2):c.7015G>A (p.Gly2339Ser) rs900562086
NM_001035.3(RYR2):c.7029_7030delinsCT (p.Leu2344Phe)
NM_001035.3(RYR2):c.7067A>G (p.Asp2356Gly)
NM_001035.3(RYR2):c.7078G>A (p.Asp2360Asn)
NM_001035.3(RYR2):c.7082G>A (p.Gly2361Asp)
NM_001035.3(RYR2):c.7091C>G (p.Pro2364Arg)
NM_001035.3(RYR2):c.70T>G (p.Cys24Gly) rs1266360671
NM_001035.3(RYR2):c.7111A>G (p.Thr2371Ala)
NM_001035.3(RYR2):c.7144A>G (p.Ile2382Val) rs1179831023
NM_001035.3(RYR2):c.7150A>G (p.Met2384Val)
NM_001035.3(RYR2):c.7165A>C (p.Met2389Leu) rs746026638
NM_001035.3(RYR2):c.7205G>A (p.Cys2402Tyr)
NM_001035.3(RYR2):c.7208C>T (p.Ala2403Val)
NM_001035.3(RYR2):c.725A>T (p.Asp242Val)
NM_001035.3(RYR2):c.7274C>G (p.Ser2425Cys)
NM_001035.3(RYR2):c.7276C>T (p.Leu2426Phe) rs2148757954
NM_001035.3(RYR2):c.727G>A (p.Glu243Lys) rs794728712
NM_001035.3(RYR2):c.7303G>C (p.Val2435Leu) rs188835713
NM_001035.3(RYR2):c.7330A>G (p.Thr2444Ala) rs1681783995
NM_001035.3(RYR2):c.7378T>C (p.Phe2460Leu)
NM_001035.3(RYR2):c.7477C>G (p.Leu2493Val) rs886046273
NM_001035.3(RYR2):c.749G>T (p.Gly250Val) rs376925177
NM_001035.3(RYR2):c.7512+3G>A
NM_001035.3(RYR2):c.7553G>A (p.Arg2518Gln)
NM_001035.3(RYR2):c.7558C>A (p.Leu2520Ile) rs1060500136
NM_001035.3(RYR2):c.7591T>C (p.Cys2531Arg)
NM_001035.3(RYR2):c.7630C>T (p.Leu2544Phe)
NM_001035.3(RYR2):c.7648C>T (p.His2550Tyr)
NM_001035.3(RYR2):c.7732G>C (p.Gly2578Arg)
NM_001035.3(RYR2):c.774-4A>G
NM_001035.3(RYR2):c.7742G>A (p.Arg2581Lys) rs1682718413
NM_001035.3(RYR2):c.7748C>T (p.Ser2583Phe)
NM_001035.3(RYR2):c.7808C>G (p.Ala2603Gly)
NM_001035.3(RYR2):c.7808C>T (p.Ala2603Val) rs752607318
NM_001035.3(RYR2):c.7868T>C (p.Leu2623Pro) rs1553269568
NM_001035.3(RYR2):c.7874G>C (p.Gly2625Ala) rs1331814541
NM_001035.3(RYR2):c.7885A>C (p.Asn2629His)
NM_001035.3(RYR2):c.7897G>A (p.Ala2633Thr) rs1683042825
NM_001035.3(RYR2):c.7906G>A (p.Glu2636Lys) rs1683044033
NM_001035.3(RYR2):c.7922C>T (p.Ser2641Leu)
NM_001035.3(RYR2):c.7927A>C (p.Lys2643Gln)
NM_001035.3(RYR2):c.7952C>T (p.Ala2651Val) rs1259240846
NM_001035.3(RYR2):c.7964del (p.Lys2655fs)
NM_001035.3(RYR2):c.7965+3A>G
NM_001035.3(RYR2):c.796G>T (p.Ala266Ser)
NM_001035.3(RYR2):c.7984T>G (p.Phe2662Val) rs2148823138
NM_001035.3(RYR2):c.7993G>C (p.Ala2665Pro)
NM_001035.3(RYR2):c.7997T>A (p.Leu2666Gln)
NM_001035.3(RYR2):c.8045A>C (p.Glu2682Ala)
NM_001035.3(RYR2):c.80C>G (p.Thr27Ser) rs1399536009
NM_001035.3(RYR2):c.8131A>G (p.Ile2711Val) rs1465720686
NM_001035.3(RYR2):c.8191A>C (p.Lys2731Gln)
NM_001035.3(RYR2):c.8238A>G (p.Ile2746Met)
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.8332T>C (p.Ser2778Pro) rs1573391679
NM_001035.3(RYR2):c.8357G>T (p.Gly2786Val) rs1060500149
NM_001035.3(RYR2):c.8370A>T (p.Glu2790Asp)
NM_001035.3(RYR2):c.8402A>G (p.Tyr2801Cys)
NM_001035.3(RYR2):c.8425C>G (p.Gln2809Glu)
NM_001035.3(RYR2):c.8443G>A (p.Val2815Met)
NM_001035.3(RYR2):c.8474C>A (p.Ala2825Asp)
NM_001035.3(RYR2):c.8482A>T (p.Met2828Leu)
NM_001035.3(RYR2):c.8519T>C (p.Met2840Thr)
NM_001035.3(RYR2):c.8552T>C (p.Ile2851Thr)
NM_001035.3(RYR2):c.8615T>G (p.Val2872Gly)
NM_001035.3(RYR2):c.8617C>T (p.Pro2873Ser) rs1031049689
NM_001035.3(RYR2):c.8715-4C>G rs1024126701
NM_001035.3(RYR2):c.8731G>A (p.Glu2911Lys) rs1553277510
NM_001035.3(RYR2):c.8758C>T (p.Arg2920Ter)
NM_001035.3(RYR2):c.8759G>A (p.Arg2920Gln) rs756302327
NM_001035.3(RYR2):c.8769T>G (p.Tyr2923Ter)
NM_001035.3(RYR2):c.8818A>G (p.Ile2940Val)
NM_001035.3(RYR2):c.8830+5del
NM_001035.3(RYR2):c.8838C>T (p.Gly2946=) rs758912397
NM_001035.3(RYR2):c.8879T>A (p.Ile2960Asn) rs759048462
NM_001035.3(RYR2):c.8893A>G (p.Lys2965Glu)
NM_001035.3(RYR2):c.8912T>A (p.Ile2971Asn)
NM_001035.3(RYR2):c.9017+5A>G
NM_001035.3(RYR2):c.9055A>C (p.Ile3019Leu) rs1686532487
NM_001035.3(RYR2):c.9067+1del
NM_001035.3(RYR2):c.9068-3T>C rs1273937983
NM_001035.3(RYR2):c.9080C>T (p.Thr3027Ile) rs1400166034
NM_001035.3(RYR2):c.9128+5del rs1553289116
NM_001035.3(RYR2):c.9157G>A (p.Val3053Ile)
NM_001035.3(RYR2):c.9214A>G (p.Met3072Val)
NM_001035.3(RYR2):c.9250C>T (p.Arg3084Ter) rs1356957973
NM_001035.3(RYR2):c.9271A>T (p.Thr3091Ser)
NM_001035.3(RYR2):c.9296T>C (p.Val3099Ala) rs1687862870
NM_001035.3(RYR2):c.9308C>G (p.Pro3103Arg) rs1208496897
NM_001035.3(RYR2):c.9308C>T (p.Pro3103Leu) rs1208496897
NM_001035.3(RYR2):c.931G>T (p.Asp311Tyr)
NM_001035.3(RYR2):c.9344A>G (p.His3115Arg)
NM_001035.3(RYR2):c.9367+4T>C rs1687869394
NM_001035.3(RYR2):c.9384G>A (p.Val3128=) rs1225100895
NM_001035.3(RYR2):c.9392A>G (p.Tyr3131Cys) rs1342384519
NM_001035.3(RYR2):c.9431A>C (p.Lys3144Thr)
NM_001035.3(RYR2):c.94C>A (p.Gln32Lys) rs1553373926
NM_001035.3(RYR2):c.9533A>G (p.His3178Arg)
NM_001035.3(RYR2):c.9698A>G (p.His3233Arg) rs1386204884
NM_001035.3(RYR2):c.9736A>T (p.Met3246Leu)
NM_001035.3(RYR2):c.9747G>T (p.Trp3249Cys)
NM_001035.3(RYR2):c.9750G>T (p.Trp3250Cys) rs775355706
NM_001035.3(RYR2):c.9770A>G (p.Asn3257Ser) rs1167753426
NM_001035.3(RYR2):c.9868A>T (p.Ile3290Phe)
NM_001035.3(RYR2):c.9880G>A (p.Ala3294Thr) rs746868168
NM_001035.3(RYR2):c.9887T>C (p.Met3296Thr) rs876661390
NM_001035.3(RYR2):c.9958T>G (p.Leu3320Val) rs986776770
NM_001035.3(RYR2):c.9989C>T (p.Ala3330Val)
NM_001037.5(SCN1B):c.-1C>T rs1057518527
NM_001037.5(SCN1B):c.151G>A (p.Ala51Thr)
NM_001037.5(SCN1B):c.17C>T (p.Ala6Val)
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu) rs1375857363
NM_001037.5(SCN1B):c.215G>A (p.Arg72His) rs770751961
NM_001037.5(SCN1B):c.229G>A (p.Val77Met)
NM_001037.5(SCN1B):c.250G>A (p.Glu84Lys) rs1555720710
NM_001037.5(SCN1B):c.281G>T (p.Gly94Val) rs2151746413
NM_001037.5(SCN1B):c.299A>G (p.Asp100Gly)
NM_001037.5(SCN1B):c.331G>A (p.Val111Ile) rs2064228638
NM_001037.5(SCN1B):c.346T>G (p.Ser116Ala)
NM_001037.5(SCN1B):c.419A>C (p.Lys140Thr)
NM_001037.5(SCN1B):c.424A>G (p.Ile142Val)
NM_001037.5(SCN1B):c.448+4_448+12del rs1322172446
NM_001037.5(SCN1B):c.461T>C (p.Met154Thr) rs1432198305
NM_001037.5(SCN1B):c.471C>G (p.Ile157Met) rs765269835
NM_001037.5(SCN1B):c.489G>A (p.Met163Ile) rs2151748748
NM_001037.5(SCN1B):c.508T>G (p.Leu170Val) rs748491132
NM_001037.5(SCN1B):c.50C>T (p.Ala17Val)
NM_001037.5(SCN1B):c.522C>A (p.Leu174=) rs35478147
NM_001037.5(SCN1B):c.548AGA[1] (p.Lys184del)
NM_001037.5(SCN1B):c.562G>A (p.Ala188Thr)
NM_001037.5(SCN1B):c.565A>C (p.Thr189Pro)
NM_001037.5(SCN1B):c.565A>G (p.Thr189Ala)
NM_001037.5(SCN1B):c.569A>T (p.Glu190Val)
NM_001037.5(SCN1B):c.631dup (p.Cys211fs)
NM_001037.5(SCN1B):c.635C>T (p.Thr212Met)
NM_001037.5(SCN1B):c.641T>C (p.Val214Ala)
NM_001037.5(SCN1B):c.646G>A (p.Val216Met)
NM_001037.5(SCN1B):c.647T>G (p.Val216Gly)
NM_001037.5(SCN1B):c.85G>C (p.Glu29Gln) rs767384862
NM_001037.5(SCN1B):c.8G>T (p.Arg3Met) rs2151745336
NM_001037.5(SCN1B):c.91G>A (p.Val31Met)
NM_001040151.2(SCN3B):c.-4G>T
NM_001040151.2(SCN3B):c.118C>A (p.Pro40Thr)
NM_001040151.2(SCN3B):c.121A>G (p.Met41Val)
NM_001040151.2(SCN3B):c.130C>T (p.Arg44Cys)
NM_001040151.2(SCN3B):c.197C>T (p.Pro66Leu)
NM_001040151.2(SCN3B):c.205G>A (p.Gly69Ser) rs1020414330
NM_001040151.2(SCN3B):c.253G>C (p.Glu85Gln)
NM_001040151.2(SCN3B):c.256del (p.Ser86fs) rs1955806072
NM_001040151.2(SCN3B):c.266del (p.Gln89fs)
NM_001040151.2(SCN3B):c.272G>A (p.Arg91His)
NM_001040151.2(SCN3B):c.272G>T (p.Arg91Leu)
NM_001040151.2(SCN3B):c.291C>G (p.Ser97Arg)
NM_001040151.2(SCN3B):c.301C>A (p.Gln101Lys)
NM_001040151.2(SCN3B):c.31_55+2del
NM_001040151.2(SCN3B):c.354C>G (p.Tyr118Ter)
NM_001040151.2(SCN3B):c.371G>A (p.Arg124Gln)
NM_001040151.2(SCN3B):c.384T>G (p.Phe128Leu)
NM_001040151.2(SCN3B):c.392_397del (p.His131_Arg132del) rs2137241970
NM_001040151.2(SCN3B):c.438_439delinsTA (p.Glu147Lys)
NM_001040151.2(SCN3B):c.439G>A (p.Glu147Lys)
NM_001040151.2(SCN3B):c.441G>T (p.Glu147Asp)
NM_001040151.2(SCN3B):c.454G>A (p.Asp152Asn)
NM_001040151.2(SCN3B):c.47T>C (p.Ile16Thr)
NM_001040151.2(SCN3B):c.484A>G (p.Met162Val)
NM_001040151.2(SCN3B):c.486G>A (p.Met162Ile)
NM_001040151.2(SCN3B):c.517C>G (p.Leu173Val)
NM_001040151.2(SCN3B):c.535T>C (p.Tyr179His)
NM_001040151.2(SCN3B):c.562G>A (p.Glu188Lys)
NM_001040151.2(SCN3B):c.565G>A (p.Glu189Lys)
NM_001040151.2(SCN3B):c.574C>G (p.Gln192Glu)
NM_001040151.2(SCN3B):c.591dup (p.Tyr198fs) rs1555114543
NM_001040151.2(SCN3B):c.608C>T (p.Ser203Phe)
NM_001040151.2(SCN3B):c.628G>A (p.Ala210Thr)
NM_001040151.2(SCN3B):c.62T>C (p.Val21Ala)
NM_001040151.2(SCN3B):c.631G>A (p.Val211Ile)
NM_001040151.2(SCN3B):c.73G>C (p.Val25Leu)
NM_001040151.2(SCN3B):c.74T>C (p.Val25Ala)
NM_001040151.2(SCN3B):c.83A>G (p.Glu28Gly)
NM_001042475.3(CEP85L):c.1020+6611A>T rs749900271
NM_001077653.2(TBX20):c.1000C>T (p.Arg334Ter)
NM_001077653.2(TBX20):c.1063A>T (p.Ser355Cys) rs1457366029
NM_001077653.2(TBX20):c.1065T>G (p.Ser355Arg)
NM_001077653.2(TBX20):c.1067T>C (p.Phe356Ser)
NM_001077653.2(TBX20):c.1084C>T (p.Pro362Ser)
NM_001077653.2(TBX20):c.1126G>T (p.Ala376Ser)
NM_001077653.2(TBX20):c.1133C>T (p.Pro378Leu)
NM_001077653.2(TBX20):c.1138C>T (p.Pro380Ser)
NM_001077653.2(TBX20):c.1153G>T (p.Gly385Cys)
NM_001077653.2(TBX20):c.1174C>T (p.Arg392Ter)
NM_001077653.2(TBX20):c.1175G>T (p.Arg392Leu) rs768119874
NM_001077653.2(TBX20):c.1186C>G (p.Pro396Ala)
NM_001077653.2(TBX20):c.1211G>A (p.Ser404Asn)
NM_001077653.2(TBX20):c.1254G>C (p.Met418Ile)
NM_001077653.2(TBX20):c.1256C>T (p.Pro419Leu)
NM_001077653.2(TBX20):c.1258C>T (p.Arg420Ter)
NM_001077653.2(TBX20):c.1264C>A (p.His422Asn)
NM_001077653.2(TBX20):c.1269C>G (p.His423Gln)
NM_001077653.2(TBX20):c.127+5G>A
NM_001077653.2(TBX20):c.1297A>G (p.Ile433Val)
NM_001077653.2(TBX20):c.1310G>T (p.Arg437Leu) rs375484585
NM_001077653.2(TBX20):c.1334C>T (p.Pro445Leu)
NM_001077653.2(TBX20):c.133T>C (p.Phe45Leu)
NM_001077653.2(TBX20):c.142A>G (p.Lys48Glu)
NM_001077653.2(TBX20):c.179G>T (p.Ser60Ile) rs1195753406
NM_001077653.2(TBX20):c.17C>T (p.Ser6Phe)
NM_001077653.2(TBX20):c.201T>G (p.Phe67Leu)
NM_001077653.2(TBX20):c.215G>A (p.Gly72Asp)
NM_001077653.2(TBX20):c.224C>A (p.Pro75Gln)
NM_001077653.2(TBX20):c.238C>G (p.Leu80Val) rs1790274874
NM_001077653.2(TBX20):c.278C>T (p.Pro93Leu)
NM_001077653.2(TBX20):c.290T>C (p.Met97Thr)
NM_001077653.2(TBX20):c.320A>G (p.Lys107Arg)
NM_001077653.2(TBX20):c.349G>A (p.Gly117Ser)
NM_001077653.2(TBX20):c.389T>G (p.Phe130Cys)
NM_001077653.2(TBX20):c.450G>C (p.Met150Ile)
NM_001077653.2(TBX20):c.461C>T (p.Pro154Leu)
NM_001077653.2(TBX20):c.46A>C (p.Asn16His)
NM_001077653.2(TBX20):c.487G>A (p.Ala163Thr)
NM_001077653.2(TBX20):c.487_492del (p.Ala163_Tyr164del)
NM_001077653.2(TBX20):c.503C>T (p.Ser168Phe)
NM_001077653.2(TBX20):c.509T>A (p.Leu170Gln)
NM_001077653.2(TBX20):c.514G>T (p.Ala172Ser)
NM_001077653.2(TBX20):c.545+2T>C
NM_001077653.2(TBX20):c.559C>T (p.Pro187Ser)
NM_001077653.2(TBX20):c.569C>A (p.Pro190His) rs1304347935
NM_001077653.2(TBX20):c.572T>C (p.Phe191Ser)
NM_001077653.2(TBX20):c.622C>G (p.Leu208Val)
NM_001077653.2(TBX20):c.653A>T (p.His218Leu)
NM_001077653.2(TBX20):c.674A>G (p.His225Arg)
NM_001077653.2(TBX20):c.676A>G (p.Lys226Glu)
NM_001077653.2(TBX20):c.691G>C (p.Val231Leu)
NM_001077653.2(TBX20):c.697A>G (p.Ile233Val)
NM_001077653.2(TBX20):c.70A>G (p.Met24Val)
NM_001077653.2(TBX20):c.714C>A (p.Asp238Glu)
NM_001077653.2(TBX20):c.719C>T (p.Thr240Ile)
NM_001077653.2(TBX20):c.745G>A (p.Glu249Lys)
NM_001077653.2(TBX20):c.818C>T (p.Thr273Met) rs1554286367
NM_001077653.2(TBX20):c.829A>G (p.Ile277Val)
NM_001077653.2(TBX20):c.850A>G (p.Lys284Glu)
NM_001077653.2(TBX20):c.851A>G (p.Lys284Arg)
NM_001077653.2(TBX20):c.85T>C (p.Ser29Pro)
NM_001077653.2(TBX20):c.872G>A (p.Arg291Lys)
NM_001077653.2(TBX20):c.902A>T (p.Glu301Val)
NM_001077653.2(TBX20):c.928G>A (p.Ala310Thr)
NM_001077653.2(TBX20):c.932G>A (p.Arg311His)
NM_001077653.2(TBX20):c.932G>T (p.Arg311Leu)
NM_001077653.2(TBX20):c.947C>A (p.Thr316Asn)
NM_001077653.2(TBX20):c.952G>A (p.Gly318Arg)
NM_001077653.2(TBX20):c.982A>G (p.Ser328Gly)
NM_001077653.2(TBX20):c.991A>G (p.Thr331Ala)
NM_001077653.2(TBX20):c.997A>G (p.Asn333Asp)
NM_001079802.2(FKTN):c.1009G>A (p.Asp337Asn)
NM_001079802.2(FKTN):c.1034A>G (p.Lys345Arg)
NM_001079802.2(FKTN):c.1045-3T>A
NM_001079802.2(FKTN):c.106-2A>C
NM_001079802.2(FKTN):c.1088T>G (p.Val363Gly) rs1362238936
NM_001079802.2(FKTN):c.10A>T (p.Ile4Phe)
NM_001079802.2(FKTN):c.1119A>C (p.Glu373Asp) rs371776972
NM_001079802.2(FKTN):c.1149G>C (p.Gln383His)
NM_001079802.2(FKTN):c.1185G>T (p.Pro395=) rs141886790
NM_001079802.2(FKTN):c.1196T>C (p.Leu399Pro) rs1833923288
NM_001079802.2(FKTN):c.1250A>T (p.Glu417Val) rs543684877
NM_001079802.2(FKTN):c.1255A>G (p.Ile419Val) rs2133451721
NM_001079802.2(FKTN):c.1259A>T (p.Glu420Val)
NM_001079802.2(FKTN):c.1313G>T (p.Arg438Leu)
NM_001079802.2(FKTN):c.1325A>T (p.Asn442Ile)
NM_001079802.2(FKTN):c.1355C>T (p.Ser452Phe)
NM_001079802.2(FKTN):c.153T>G (p.Asp51Glu)
NM_001079802.2(FKTN):c.214G>T (p.Val72Leu)
NM_001079802.2(FKTN):c.220C>A (p.Leu74Ile) rs1060501407
NM_001079802.2(FKTN):c.223A>G (p.Ile75Val) rs1827816995
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_001079802.2(FKTN):c.278C>T (p.Thr93Ile)
NM_001079802.2(FKTN):c.290C>G (p.Ser97Cys)
NM_001079802.2(FKTN):c.293C>G (p.Thr98Ser) rs376452959
NM_001079802.2(FKTN):c.335C>T (p.Ala112Val)
NM_001079802.2(FKTN):c.350A>C (p.Tyr117Ser)
NM_001079802.2(FKTN):c.374G>A (p.Gly125Asp) rs142783718
NM_001079802.2(FKTN):c.374G>C (p.Gly125Ala) rs142783718
NM_001079802.2(FKTN):c.374G>T (p.Gly125Val) rs142783718
NM_001079802.2(FKTN):c.394A>G (p.Asn132Asp) rs2132791236
NM_001079802.2(FKTN):c.408G>C (p.Gln136His)
NM_001079802.2(FKTN):c.419T>C (p.Ile140Thr)
NM_001079802.2(FKTN):c.457C>G (p.Leu153Val) rs977350409
NM_001079802.2(FKTN):c.479T>C (p.Leu160Pro)
NM_001079802.2(FKTN):c.487A>G (p.Ile163Val)
NM_001079802.2(FKTN):c.506A>G (p.His169Arg)
NM_001079802.2(FKTN):c.509C>T (p.Ala170Val)
NM_001079802.2(FKTN):c.569G>A (p.Arg190Lys) rs760967116
NM_001079802.2(FKTN):c.619T>G (p.Phe207Val) rs1461669175
NM_001079802.2(FKTN):c.623G>A (p.Gly208Asp) rs778048703
NM_001079802.2(FKTN):c.625C>T (p.Arg209Cys) rs749576551
NM_001079802.2(FKTN):c.647G>A (p.Arg216Lys) rs1828504500
NM_001079802.2(FKTN):c.653A>T (p.Glu218Val) rs978338266
NM_001079802.2(FKTN):c.664G>A (p.Val222Ile) rs1293245717
NM_001079802.2(FKTN):c.694C>T (p.Pro232Ser) rs1034968484
NM_001079802.2(FKTN):c.731A>G (p.His244Arg)
NM_001079802.2(FKTN):c.767G>A (p.Arg256Gln)
NM_001079802.2(FKTN):c.835G>A (p.Glu279Lys)
NM_001079802.2(FKTN):c.836A>G (p.Glu279Gly)
NM_001079802.2(FKTN):c.841C>G (p.Leu281Val) rs199697041
NM_001079802.2(FKTN):c.89A>G (p.His30Arg)
NM_001079802.2(FKTN):c.917A>G (p.Tyr306Cys)
NM_001079802.2(FKTN):c.941A>G (p.Tyr314Cys) rs1451453111
NM_001103.4(ACTN2):c.1001A>G (p.Lys334Arg)
NM_001103.4(ACTN2):c.1017C>G (p.Cys339Trp)
NM_001103.4(ACTN2):c.102del (p.Ala35fs)
NM_001103.4(ACTN2):c.1130G>A (p.Arg377Lys) rs1325419598
NM_001103.4(ACTN2):c.1149G>T (p.Lys383Asn)
NM_001103.4(ACTN2):c.1150G>T (p.Gly384Cys)
NM_001103.4(ACTN2):c.1156G>A (p.Glu386Lys)
NM_001103.4(ACTN2):c.1162T>G (p.Trp388Gly) rs376144003
NM_001103.4(ACTN2):c.1208C>A (p.Ala403Asp)
NM_001103.4(ACTN2):c.1237C>G (p.His413Asp)
NM_001103.4(ACTN2):c.1240G>A (p.Glu414Lys) rs1558243189
NM_001103.4(ACTN2):c.1242G>T (p.Glu414Asp) rs775057676
NM_001103.4(ACTN2):c.1255+1G>C rs1367331045
NM_001103.4(ACTN2):c.1271T>C (p.Leu424Ser)
NM_001103.4(ACTN2):c.1281G>T (p.Lys427Asn)
NM_001103.4(ACTN2):c.1298C>G (p.Ser433Trp)
NM_001103.4(ACTN2):c.1300C>G (p.Leu434Val)
NM_001103.4(ACTN2):c.1330C>G (p.His444Asp) rs1064796600
NM_001103.4(ACTN2):c.1348G>A (p.Asp450Asn) rs774252565
NM_001103.4(ACTN2):c.1348G>T (p.Asp450Tyr) rs774252565
NM_001103.4(ACTN2):c.1358C>T (p.Ala453Val) rs566860712
NM_001103.4(ACTN2):c.1415A>G (p.Asp472Gly)
NM_001103.4(ACTN2):c.1444C>G (p.Arg482Gly) rs199604590
NM_001103.4(ACTN2):c.1494G>C (p.Gln498His) rs1413564541
NM_001103.4(ACTN2):c.1538C>T (p.Thr513Ile)
NM_001103.4(ACTN2):c.1603G>A (p.Ala535Thr)
NM_001103.4(ACTN2):c.1625T>C (p.Met542Thr) rs778713804
NM_001103.4(ACTN2):c.1665C>G (p.Ile555Met)
NM_001103.4(ACTN2):c.1703C>T (p.Ala568Val) rs776805533
NM_001103.4(ACTN2):c.1739A>G (p.Asn580Ser)
NM_001103.4(ACTN2):c.1753G>A (p.Val585Met)
NM_001103.4(ACTN2):c.175A>G (p.Ile59Val)
NM_001103.4(ACTN2):c.1775G>T (p.Arg592Ile) rs774780856
NM_001103.4(ACTN2):c.1778T>C (p.Ile593Thr)
NM_001103.4(ACTN2):c.1780A>G (p.Ser594Gly) rs1572143496
NM_001103.4(ACTN2):c.1793C>T (p.Pro598Leu)
NM_001103.4(ACTN2):c.1816G>C (p.Glu606Gln)
NM_001103.4(ACTN2):c.1825A>C (p.Thr609Pro)
NM_001103.4(ACTN2):c.1832G>A (p.Trp611Ter)
NM_001103.4(ACTN2):c.1840-5G>A rs2102942477
NM_001103.4(ACTN2):c.1861C>T (p.Arg621Cys) rs756407851
NM_001103.4(ACTN2):c.1888G>A (p.Ala630Thr) rs1338074315
NM_001103.4(ACTN2):c.1898A>G (p.His633Arg)
NM_001103.4(ACTN2):c.1909C>A (p.Arg637Ser)
NM_001103.4(ACTN2):c.191A>G (p.Glu64Gly)
NM_001103.4(ACTN2):c.1923G>T (p.Gln641His)
NM_001103.4(ACTN2):c.1949G>T (p.Gly650Val)
NM_001103.4(ACTN2):c.1969A>T (p.Met657Leu)
NM_001103.4(ACTN2):c.1975-5C>T
NM_001103.4(ACTN2):c.1984C>G (p.Arg662Gly) rs150021739
NM_001103.4(ACTN2):c.1990T>A (p.Ser664Thr)
NM_001103.4(ACTN2):c.2051A>T (p.Asn684Ile) rs576783493
NM_001103.4(ACTN2):c.2056A>G (p.Ile686Val)
NM_001103.4(ACTN2):c.2060A>C (p.Asn687Thr)
NM_001103.4(ACTN2):c.2060_2061delinsCA (p.Asn687Thr)
NM_001103.4(ACTN2):c.2061C>A (p.Asn687Lys)
NM_001103.4(ACTN2):c.2069ACA[1] (p.Asn691del) rs757747164
NM_001103.4(ACTN2):c.2070C>A (p.Asn690Lys)
NM_001103.4(ACTN2):c.2087A>G (p.Glu696Gly)
NM_001103.4(ACTN2):c.2113G>A (p.Ala705Thr) rs1659517244
NM_001103.4(ACTN2):c.2161C>T (p.Arg721Cys) rs149433837
NM_001103.4(ACTN2):c.2168G>A (p.Gly723Glu)
NM_001103.4(ACTN2):c.2207A>T (p.Asn736Ile)
NM_001103.4(ACTN2):c.2211G>T (p.Glu737Asp)
NM_001103.4(ACTN2):c.2214G>A (p.Val738=)
NM_001103.4(ACTN2):c.2233A>T (p.Arg745Ter) rs2102947099
NM_001103.4(ACTN2):c.2240C>T (p.Ala747Val) rs1060503686
NM_001103.4(ACTN2):c.2295T>G (p.Phe765Leu)
NM_001103.4(ACTN2):c.22G>C (p.Val8Leu)
NM_001103.4(ACTN2):c.22G>T (p.Val8Leu)
NM_001103.4(ACTN2):c.2353A>G (p.Met785Val)
NM_001103.4(ACTN2):c.2368-1G>C
NM_001103.4(ACTN2):c.2395A>G (p.Thr799Ala)
NM_001103.4(ACTN2):c.2411A>G (p.Asn804Ser) rs776329264
NM_001103.4(ACTN2):c.241G>C (p.Gly81Arg)
NM_001103.4(ACTN2):c.2423C>T (p.Thr808Ile) rs148833906
NM_001103.4(ACTN2):c.242G>A (p.Gly81Glu) rs1658299884
NM_001103.4(ACTN2):c.2452A>G (p.Met818Val)
NM_001103.4(ACTN2):c.2467G>T (p.Ala823Ser) rs2102951725
NM_001103.4(ACTN2):c.2470G>C (p.Asp824His)
NM_001103.4(ACTN2):c.2479A>G (p.Thr827Ala)
NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter) rs770335717
NM_001103.4(ACTN2):c.249G>C (p.Arg83Ser)
NM_001103.4(ACTN2):c.2508G>A (p.Arg836=) rs2102951896
NM_001103.4(ACTN2):c.2527-3C>T
NM_001103.4(ACTN2):c.253C>T (p.Pro85Ser) rs1558232396
NM_001103.4(ACTN2):c.2572C>T (p.Gln858Ter)
NM_001103.4(ACTN2):c.2598G>T (p.Met866Ile)
NM_001103.4(ACTN2):c.2614C>G (p.Pro872Ala)
NM_001103.4(ACTN2):c.2614_2616delinsGAG (p.Pro872Glu)
NM_001103.4(ACTN2):c.2615C>A (p.Pro872Gln)
NM_001103.4(ACTN2):c.2656T>C (p.Ser886Pro)
NM_001103.4(ACTN2):c.274A>C (p.Met92Leu)
NM_001103.4(ACTN2):c.31A>C (p.Asn11His) rs886046205
NM_001103.4(ACTN2):c.35A>G (p.Tyr12Cys)
NM_001103.4(ACTN2):c.361+5G>C rs1553300073
NM_001103.4(ACTN2):c.362-4G>A rs1014042332
NM_001103.4(ACTN2):c.368T>C (p.Val123Ala)
NM_001103.4(ACTN2):c.41A>G (p.Tyr14Cys)
NM_001103.4(ACTN2):c.432G>C (p.Gln144His)
NM_001103.4(ACTN2):c.439T>C (p.Ser147Pro) rs886038915
NM_001103.4(ACTN2):c.43G>A (p.Asp15Asn)
NM_001103.4(ACTN2):c.447A>C (p.Glu149Asp)
NM_001103.4(ACTN2):c.458C>T (p.Ala153Val)
NM_001103.4(ACTN2):c.506G>C (p.Arg169Thr) rs727505146
NM_001103.4(ACTN2):c.518T>C (p.Ile173Thr)
NM_001103.4(ACTN2):c.556C>G (p.Leu186Val) rs371930065
NM_001103.4(ACTN2):c.565C>T (p.Leu189Phe)
NM_001103.4(ACTN2):c.589C>T (p.Leu197Phe) rs760937883
NM_001103.4(ACTN2):c.58A>G (p.Met20Val)
NM_001103.4(ACTN2):c.649G>A (p.Glu217Lys)
NM_001103.4(ACTN2):c.674T>G (p.Ile225Ser) rs1553301462
NM_001103.4(ACTN2):c.697G>A (p.Asp233Asn) rs904672923
NM_001103.4(ACTN2):c.713C>G (p.Pro238Arg)
NM_001103.4(ACTN2):c.725A>G (p.Glu242Gly)
NM_001103.4(ACTN2):c.763G>A (p.Ala255Thr) rs1060503682
NM_001103.4(ACTN2):c.787G>A (p.Glu263Lys)
NM_001103.4(ACTN2):c.793G>A (p.Ala265Thr)
NM_001103.4(ACTN2):c.794C>T (p.Ala265Val) rs794728965
NM_001103.4(ACTN2):c.836A>C (p.Asn279Thr)
NM_001103.4(ACTN2):c.857A>G (p.Tyr286Cys)
NM_001103.4(ACTN2):c.905C>T (p.Pro302Leu)
NM_001103.4(ACTN2):c.964G>A (p.Asp322Asn)
NM_001103.4(ACTN2):c.971G>C (p.Arg324Pro) rs1240148760
NM_001103.4(ACTN2):c.988C>G (p.His330Asp)
NM_001105206.3(LAMA4):c.1010T>C (p.Ile337Thr)
NM_001105206.3(LAMA4):c.1018A>C (p.Asn340His)
NM_001105206.3(LAMA4):c.1018A>G (p.Asn340Asp)
NM_001105206.3(LAMA4):c.1034C>T (p.Thr345Met)
NM_001105206.3(LAMA4):c.103G>A (p.Asp35Asn)
NM_001105206.3(LAMA4):c.1056C>G (p.Asp352Glu)
NM_001105206.3(LAMA4):c.1065A>C (p.Glu355Asp)
NM_001105206.3(LAMA4):c.1065A>T (p.Glu355Asp)
NM_001105206.3(LAMA4):c.1069G>A (p.Val357Ile) rs2114930469
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val) rs727503116
NM_001105206.3(LAMA4):c.1070_1077+1delinsAGGAATTAGTAGAGGAATACA
NM_001105206.3(LAMA4):c.1073A>G (p.Glu358Gly)
NM_001105206.3(LAMA4):c.107T>A (p.Ile36Asn)
NM_001105206.3(LAMA4):c.1085A>C (p.Gln362Pro)
NM_001105206.3(LAMA4):c.1127A>G (p.Asp376Gly) rs782061102
NM_001105206.3(LAMA4):c.112G>A (p.Gly38Arg)
NM_001105206.3(LAMA4):c.1133T>G (p.Ile378Ser)
NM_001105206.3(LAMA4):c.1140C>A (p.His380Gln)
NM_001105206.3(LAMA4):c.1141G>A (p.Ala381Thr)
NM_001105206.3(LAMA4):c.1179T>A (p.Asp393Glu)
NM_001105206.3(LAMA4):c.1197C>A (p.Asn399Lys)
NM_001105206.3(LAMA4):c.1200C>A (p.Asn400Lys)
NM_001105206.3(LAMA4):c.1213T>C (p.Tyr405His)
NM_001105206.3(LAMA4):c.1271A>T (p.Gln424Leu)
NM_001105206.3(LAMA4):c.1276A>G (p.Met426Val)
NM_001105206.3(LAMA4):c.1284A>C (p.Glu428Asp)
NM_001105206.3(LAMA4):c.1318C>G (p.Arg440Gly) rs140911762
NM_001105206.3(LAMA4):c.1330G>T (p.Asp444Tyr)
NM_001105206.3(LAMA4):c.1336G>A (p.Glu446Lys)
NM_001105206.3(LAMA4):c.1354G>A (p.Glu452Lys)
NM_001105206.3(LAMA4):c.1357+4G>A
NM_001105206.3(LAMA4):c.1393_1395del (p.Asn465del)
NM_001105206.3(LAMA4):c.140C>T (p.Pro47Leu) rs727503115
NM_001105206.3(LAMA4):c.1437_1442dup (p.Asp480_Tyr481dup) rs782294432
NM_001105206.3(LAMA4):c.1484C>A (p.Ala495Asp)
NM_001105206.3(LAMA4):c.1486C>G (p.Leu496Val)
NM_001105206.3(LAMA4):c.1523C>A (p.Ala508Asp)
NM_001105206.3(LAMA4):c.1523C>T (p.Ala508Val)
NM_001105206.3(LAMA4):c.152G>C (p.Ser51Thr)
NM_001105206.3(LAMA4):c.1540C>T (p.Arg514Trp)
NM_001105206.3(LAMA4):c.1552-5C>T
NM_001105206.3(LAMA4):c.1567G>A (p.Val523Met)
NM_001105206.3(LAMA4):c.1571G>A (p.Arg524Lys)
NM_001105206.3(LAMA4):c.1577A>C (p.Gln526Pro)
NM_001105206.3(LAMA4):c.1580T>C (p.Met527Thr)
NM_001105206.3(LAMA4):c.1598C>T (p.Ser533Phe)
NM_001105206.3(LAMA4):c.1630C>T (p.Pro544Ser)
NM_001105206.3(LAMA4):c.1640del (p.Thr547fs)
NM_001105206.3(LAMA4):c.1642C>T (p.Leu548Phe)
NM_001105206.3(LAMA4):c.1651C>T (p.Leu551Phe)
NM_001105206.3(LAMA4):c.1658A>C (p.Asp553Ala)
NM_001105206.3(LAMA4):c.1658A>G (p.Asp553Gly)
NM_001105206.3(LAMA4):c.1663A>G (p.Ile555Val)
NM_001105206.3(LAMA4):c.1669-16_1669-2del
NM_001105206.3(LAMA4):c.1669-5T>C
NM_001105206.3(LAMA4):c.1675T>C (p.Ser559Pro)
NM_001105206.3(LAMA4):c.1685A>T (p.Tyr562Phe)
NM_001105206.3(LAMA4):c.1748G>A (p.Ser583Asn)
NM_001105206.3(LAMA4):c.1778A>T (p.His593Leu)
NM_001105206.3(LAMA4):c.1801G>A (p.Ala601Thr) rs1554337589
NM_001105206.3(LAMA4):c.1816A>G (p.Arg606Gly)
NM_001105206.3(LAMA4):c.1873A>G (p.Asn625Asp)
NM_001105206.3(LAMA4):c.1891G>C (p.Val631Leu)
NM_001105206.3(LAMA4):c.1910C>T (p.Ala637Val)
NM_001105206.3(LAMA4):c.1919C>T (p.Thr640Ile)
NM_001105206.3(LAMA4):c.1949G>A (p.Arg650Gln)
NM_001105206.3(LAMA4):c.194A>T (p.Glu65Val)
NM_001105206.3(LAMA4):c.1967G>A (p.Ser656Asn)
NM_001105206.3(LAMA4):c.1995T>G (p.His665Gln)
NM_001105206.3(LAMA4):c.2017C>T (p.Leu673Phe)
NM_001105206.3(LAMA4):c.2057G>C (p.Ser686Thr) rs1174262178
NM_001105206.3(LAMA4):c.2075C>T (p.Ala692Val)
NM_001105206.3(LAMA4):c.2083A>G (p.Ser695Gly)
NM_001105206.3(LAMA4):c.2114A>G (p.Lys705Arg) rs1780338421
NM_001105206.3(LAMA4):c.2134C>T (p.Leu712Phe) rs562879510
NM_001105206.3(LAMA4):c.2137A>G (p.Ser713Gly)
NM_001105206.3(LAMA4):c.2168A>G (p.Glu723Gly)
NM_001105206.3(LAMA4):c.2189G>T (p.Arg730Leu)
NM_001105206.3(LAMA4):c.2231C>T (p.Thr744Met)
NM_001105206.3(LAMA4):c.2266G>C (p.Ala756Pro)
NM_001105206.3(LAMA4):c.2270A>G (p.Asn757Ser)
NM_001105206.3(LAMA4):c.2279C>T (p.Thr760Ile)
NM_001105206.3(LAMA4):c.2281A>G (p.Asn761Asp)
NM_001105206.3(LAMA4):c.2286G>T (p.Trp762Cys)
NM_001105206.3(LAMA4):c.2317G>A (p.Ala773Thr)
NM_001105206.3(LAMA4):c.2354-1G>A
NM_001105206.3(LAMA4):c.2368G>A (p.Glu790Lys)
NM_001105206.3(LAMA4):c.2381A>G (p.Gln794Arg)
NM_001105206.3(LAMA4):c.2399G>A (p.Arg800His)
NM_001105206.3(LAMA4):c.2417G>A (p.Arg806Gln) rs1554334150
NM_001105206.3(LAMA4):c.2419C>A (p.Pro807Thr)
NM_001105206.3(LAMA4):c.2428A>G (p.Asn810Asp)
NM_001105206.3(LAMA4):c.2488A>G (p.Ser830Gly)
NM_001105206.3(LAMA4):c.2513T>C (p.Phe838Ser)
NM_001105206.3(LAMA4):c.2548A>C (p.Thr850Pro)
NM_001105206.3(LAMA4):c.2564T>C (p.Leu855Ser)
NM_001105206.3(LAMA4):c.2603C>T (p.Pro868Leu)
NM_001105206.3(LAMA4):c.2611C>T (p.Arg871Trp) rs782774293
NM_001105206.3(LAMA4):c.2641T>C (p.Phe881Leu)
NM_001105206.3(LAMA4):c.2668-5T>G
NM_001105206.3(LAMA4):c.2734A>T (p.Thr912Ser) rs863223684
NM_001105206.3(LAMA4):c.2740G>C (p.Asp914His)
NM_001105206.3(LAMA4):c.2751T>G (p.Ile917Met) rs1007533169
NM_001105206.3(LAMA4):c.2780G>C (p.Trp927Ser)
NM_001105206.3(LAMA4):c.2813+5A>G
NM_001105206.3(LAMA4):c.2814G>T (p.Arg938Ser)
NM_001105206.3(LAMA4):c.2832G>T (p.Lys944Asn) rs140978616
NM_001105206.3(LAMA4):c.283T>C (p.Ser95Pro)
NM_001105206.3(LAMA4):c.2842A>G (p.Thr948Ala)
NM_001105206.3(LAMA4):c.2869G>A (p.Glu957Lys)
NM_001105206.3(LAMA4):c.292T>C (p.Cys98Arg)
NM_001105206.3(LAMA4):c.2938A>G (p.Thr980Ala)
NM_001105206.3(LAMA4):c.295G>A (p.Val99Met)
NM_001105206.3(LAMA4):c.2963C>T (p.Pro988Leu)
NM_001105206.3(LAMA4):c.2986A>G (p.Ser996Gly)
NM_001105206.3(LAMA4):c.2987G>C (p.Ser996Thr)
NM_001105206.3(LAMA4):c.2994C>G (p.Asn998Lys)
NM_001105206.3(LAMA4):c.2995C>G (p.Leu999Val)
NM_001105206.3(LAMA4):c.2996T>C (p.Leu999Pro)
NM_001105206.3(LAMA4):c.3029C>T (p.Thr1010Ile) rs201431614
NM_001105206.3(LAMA4):c.3059A>G (p.Asn1020Ser)
NM_001105206.3(LAMA4):c.3073T>C (p.Tyr1025His) rs1554332595
NM_001105206.3(LAMA4):c.307C>G (p.Arg103Gly) rs138176093
NM_001105206.3(LAMA4):c.307C>T (p.Arg103Trp) rs138176093
NM_001105206.3(LAMA4):c.308G>A (p.Arg103Gln) rs782029414
NM_001105206.3(LAMA4):c.3110+3A>G
NM_001105206.3(LAMA4):c.3113A>G (p.Asp1038Gly)
NM_001105206.3(LAMA4):c.3121G>T (p.Ala1041Ser)
NM_001105206.3(LAMA4):c.3124T>A (p.Phe1042Ile)
NM_001105206.3(LAMA4):c.3208G>T (p.Gly1070Cys)
NM_001105206.3(LAMA4):c.320G>A (p.Gly107Glu)
NM_001105206.3(LAMA4):c.3217A>T (p.Thr1073Ser)
NM_001105206.3(LAMA4):c.3221G>A (p.Arg1074His)
NM_001105206.3(LAMA4):c.3231A>G (p.Ile1077Met)
NM_001105206.3(LAMA4):c.3244C>G (p.Pro1082Ala)
NM_001105206.3(LAMA4):c.3263T>G (p.Ile1088Ser)
NM_001105206.3(LAMA4):c.3283-5C>T
NM_001105206.3(LAMA4):c.3304A>G (p.Met1102Val) rs2114675509
NM_001105206.3(LAMA4):c.3307C>A (p.Arg1103Ser) rs113109272
NM_001105206.3(LAMA4):c.3317A>G (p.Tyr1106Cys)
NM_001105206.3(LAMA4):c.3325G>A (p.Val1109Met)
NM_001105206.3(LAMA4):c.3374C>T (p.Thr1125Met)
NM_001105206.3(LAMA4):c.3440A>C (p.Lys1147Thr)
NM_001105206.3(LAMA4):c.3467G>A (p.Arg1156Lys)
NM_001105206.3(LAMA4):c.3517A>G (p.Ile1173Val)
NM_001105206.3(LAMA4):c.3541G>A (p.Glu1181Lys) rs958899040
NM_001105206.3(LAMA4):c.3577C>A (p.Pro1193Thr)
NM_001105206.3(LAMA4):c.3586A>G (p.Ile1196Val)
NM_001105206.3(LAMA4):c.3599G>A (p.Gly1200Glu)
NM_001105206.3(LAMA4):c.359A>G (p.Asp120Gly)
NM_001105206.3(LAMA4):c.3601T>G (p.Cys1201Gly)
NM_001105206.3(LAMA4):c.3639T>G (p.Asn1213Lys)
NM_001105206.3(LAMA4):c.3641T>C (p.Leu1214Ser)
NM_001105206.3(LAMA4):c.3646G>A (p.Glu1216Lys)
NM_001105206.3(LAMA4):c.3697-75_3703dup
NM_001105206.3(LAMA4):c.369G>T (p.Arg123Ser)
NM_001105206.3(LAMA4):c.3704G>A (p.Arg1235His) rs559725422
NM_001105206.3(LAMA4):c.3704G>C (p.Arg1235Pro) rs559725422
NM_001105206.3(LAMA4):c.3790C>T (p.Arg1264Ter)
NM_001105206.3(LAMA4):c.3791G>A (p.Arg1264Gln)
NM_001105206.3(LAMA4):c.3800A>C (p.Gln1267Pro)
NM_001105206.3(LAMA4):c.3805A>C (p.Asn1269His)
NM_001105206.3(LAMA4):c.3819C>A (p.Phe1273Leu) rs138232283
NM_001105206.3(LAMA4):c.3824A>G (p.Tyr1275Cys)
NM_001105206.3(LAMA4):c.3827C>T (p.Ala1276Val)
NM_001105206.3(LAMA4):c.3833G>A (p.Gly1278Glu)
NM_001105206.3(LAMA4):c.3833G>T (p.Gly1278Val)
NM_001105206.3(LAMA4):c.3834+3_3834+6del
NM_001105206.3(LAMA4):c.383T>G (p.Phe128Cys)
NM_001105206.3(LAMA4):c.3848C>T (p.Ser1283Phe)
NM_001105206.3(LAMA4):c.3859G>A (p.Asp1287Asn)
NM_001105206.3(LAMA4):c.3859G>T (p.Asp1287Tyr)
NM_001105206.3(LAMA4):c.386G>T (p.Cys129Phe)
NM_001105206.3(LAMA4):c.3882T>G (p.Asp1294Glu)
NM_001105206.3(LAMA4):c.3917A>C (p.Gln1306Pro) rs1554329570
NM_001105206.3(LAMA4):c.3980T>C (p.Ile1327Thr) rs376471900
NM_001105206.3(LAMA4):c.4066G>C (p.Gly1356Arg) rs1268977606
NM_001105206.3(LAMA4):c.406del (p.Leu136fs) rs782372455
NM_001105206.3(LAMA4):c.4073C>T (p.Ser1358Leu)
NM_001105206.3(LAMA4):c.410C>T (p.Pro137Leu)
NM_001105206.3(LAMA4):c.4154T>C (p.Val1385Ala)
NM_001105206.3(LAMA4):c.4169G>T (p.Arg1390Leu)
NM_001105206.3(LAMA4):c.4183G>T (p.Val1395Phe)
NM_001105206.3(LAMA4):c.4194del (p.Leu1399fs)
NM_001105206.3(LAMA4):c.4198T>C (p.Tyr1400His)
NM_001105206.3(LAMA4):c.4213G>C (p.Glu1405Gln)
NM_001105206.3(LAMA4):c.422del (p.Asn141fs)
NM_001105206.3(LAMA4):c.4254T>A (p.Asn1418Lys)
NM_001105206.3(LAMA4):c.4255T>G (p.Leu1419Val) rs782225670
NM_001105206.3(LAMA4):c.4291G>A (p.Gly1431Arg)
NM_001105206.3(LAMA4):c.4324G>A (p.Val1442Ile)
NM_001105206.3(LAMA4):c.4345C>T (p.Arg1449Trp) rs372872387
NM_001105206.3(LAMA4):c.4391G>C (p.Arg1464Thr)
NM_001105206.3(LAMA4):c.4466T>C (p.Phe1489Ser)
NM_001105206.3(LAMA4):c.449dup (p.Asn150fs) rs1249093492
NM_001105206.3(LAMA4):c.4513C>A (p.His1505Asn)
NM_001105206.3(LAMA4):c.4514A>G (p.His1505Arg)
NM_001105206.3(LAMA4):c.4562C>T (p.Thr1521Ile)
NM_001105206.3(LAMA4):c.4582C>T (p.Arg1528Cys)
NM_001105206.3(LAMA4):c.4583G>A (p.Arg1528His) rs782805733
NM_001105206.3(LAMA4):c.458T>C (p.Val153Ala)
NM_001105206.3(LAMA4):c.4622A>C (p.Lys1541Thr)
NM_001105206.3(LAMA4):c.4624A>T (p.Ile1542Phe)
NM_001105206.3(LAMA4):c.4630A>T (p.Ser1544Cys)
NM_001105206.3(LAMA4):c.4646A>T (p.Asn1549Ile) rs12110554
NM_001105206.3(LAMA4):c.4648G>A (p.Asp1550Asn)
NM_001105206.3(LAMA4):c.4648del (p.Asp1550fs)
NM_001105206.3(LAMA4):c.4652G>A (p.Gly1551Asp)
NM_001105206.3(LAMA4):c.4663G>C (p.Asp1555His)
NM_001105206.3(LAMA4):c.4663G>T (p.Asp1555Tyr) rs1424002749
NM_001105206.3(LAMA4):c.4665+2T>A
NM_001105206.3(LAMA4):c.4666-3C>T
NM_001105206.3(LAMA4):c.4697G>A (p.Arg1566Gln)
NM_001105206.3(LAMA4):c.4706T>C (p.Ile1569Thr)
NM_001105206.3(LAMA4):c.4718G>A (p.Arg1573Gln)
NM_001105206.3(LAMA4):c.4733G>C (p.Ser1578Thr)
NM_001105206.3(LAMA4):c.4751C>T (p.Ala1584Val)
NM_001105206.3(LAMA4):c.4768G>A (p.Gly1590Ser)
NM_001105206.3(LAMA4):c.4781T>C (p.Leu1594Ser)
NM_001105206.3(LAMA4):c.4814dup (p.Asn1605fs)
NM_001105206.3(LAMA4):c.4827C>G (p.Asn1609Lys)
NM_001105206.3(LAMA4):c.4840T>G (p.Phe1614Val)
NM_001105206.3(LAMA4):c.4865A>G (p.Gln1622Arg)
NM_001105206.3(LAMA4):c.4867C>T (p.Leu1623Phe)
NM_001105206.3(LAMA4):c.4871A>G (p.Asn1624Ser) rs1554324498
NM_001105206.3(LAMA4):c.4880C>T (p.Ser1627Phe)
NM_001105206.3(LAMA4):c.4940C>T (p.Thr1647Ile)
NM_001105206.3(LAMA4):c.494A>T (p.Asn165Ile)
NM_001105206.3(LAMA4):c.4957A>C (p.Thr1653Pro)
NM_001105206.3(LAMA4):c.4967G>A (p.Gly1656Glu) rs41289900
NM_001105206.3(LAMA4):c.4984G>C (p.Glu1662Gln)
NM_001105206.3(LAMA4):c.5002T>G (p.Leu1668Val)
NM_001105206.3(LAMA4):c.5007G>C (p.Lys1669Asn)
NM_001105206.3(LAMA4):c.5021T>G (p.Phe1674Cys) rs1209180229
NM_001105206.3(LAMA4):c.5080G>A (p.Glu1694Lys)
NM_001105206.3(LAMA4):c.5098A>G (p.Met1700Val)
NM_001105206.3(LAMA4):c.5110C>G (p.Gln1704Glu)
NM_001105206.3(LAMA4):c.5112+4G>A
NM_001105206.3(LAMA4):c.5117T>C (p.Ile1706Thr)
NM_001105206.3(LAMA4):c.5119G>A (p.Val1707Met)
NM_001105206.3(LAMA4):c.5138T>C (p.Ile1713Thr)
NM_001105206.3(LAMA4):c.5158G>A (p.Val1720Ile)
NM_001105206.3(LAMA4):c.5158_5159delinsAA (p.Val1720Asn)
NM_001105206.3(LAMA4):c.5159T>A (p.Val1720Asp)
NM_001105206.3(LAMA4):c.5194C>T (p.His1732Tyr) rs2114556643
NM_001105206.3(LAMA4):c.5215G>A (p.Asp1739Asn)
NM_001105206.3(LAMA4):c.5219C>T (p.Ser1740Phe)
NM_001105206.3(LAMA4):c.5309T>C (p.Phe1770Ser) rs782498118
NM_001105206.3(LAMA4):c.530C>T (p.Pro177Leu)
NM_001105206.3(LAMA4):c.5311G>T (p.Val1771Phe)
NM_001105206.3(LAMA4):c.5317G>A (p.Gly1773Ser)
NM_001105206.3(LAMA4):c.5318G>A (p.Gly1773Asp)
NM_001105206.3(LAMA4):c.5326+5G>T
NM_001105206.3(LAMA4):c.5341C>T (p.Pro1781Ser)
NM_001105206.3(LAMA4):c.5375G>A (p.Cys1792Tyr)
NM_001105206.3(LAMA4):c.5380C>A (p.Arg1794Ser)
NM_001105206.3(LAMA4):c.5393T>G (p.Ile1798Ser) rs377204776
NM_001105206.3(LAMA4):c.5396A>T (p.Asp1799Val)
NM_001105206.3(LAMA4):c.5405C>A (p.Pro1802Gln) rs886039017
NM_001105206.3(LAMA4):c.5448C>A (p.Ser1816Arg)
NM_001105206.3(LAMA4):c.5456C>T (p.Ser1819Phe)
NM_001105206.3(LAMA4):c.5461C>T (p.Pro1821Ser)
NM_001105206.3(LAMA4):c.550T>C (p.Cys184Arg) rs759487426
NM_001105206.3(LAMA4):c.577T>G (p.Ser193Ala)
NM_001105206.3(LAMA4):c.57_59dup (p.Ala20dup) rs1284404549
NM_001105206.3(LAMA4):c.587A>G (p.Asn196Ser)
NM_001105206.3(LAMA4):c.605G>A (p.Cys202Tyr)
NM_001105206.3(LAMA4):c.619G>A (p.Gly207Ser)
NM_001105206.3(LAMA4):c.64T>C (p.Ser22Pro)
NM_001105206.3(LAMA4):c.673G>A (p.Ala225Thr) rs782121531
NM_001105206.3(LAMA4):c.67C>T (p.Arg23Cys)
NM_001105206.3(LAMA4):c.718+5A>G
NM_001105206.3(LAMA4):c.769G>C (p.Glu257Gln)
NM_001105206.3(LAMA4):c.770AAG[1] (p.Glu258del)
NM_001105206.3(LAMA4):c.795C>A (p.Gly265=) rs1484189768
NM_001105206.3(LAMA4):c.824A>C (p.Lys275Thr)
NM_001105206.3(LAMA4):c.829G>T (p.Val277Phe) rs146225813
NM_001105206.3(LAMA4):c.82G>A (p.Asp28Asn)
NM_001105206.3(LAMA4):c.82GAC[1] (p.Asp29del) rs781840950
NM_001105206.3(LAMA4):c.854G>A (p.Arg285Gln)
NM_001105206.3(LAMA4):c.868T>G (p.Ser290Ala) rs782433369
NM_001105206.3(LAMA4):c.892G>A (p.Val298Met) rs927160835
NM_001105206.3(LAMA4):c.898_900del (p.Ser300del) rs1782760091
NM_001105206.3(LAMA4):c.900C>A (p.Ser300Arg)
NM_001105206.3(LAMA4):c.919G>A (p.Ala307Thr)
NM_001105206.3(LAMA4):c.931G>A (p.Val311Met)
NM_001105206.3(LAMA4):c.953T>C (p.Ile318Thr)
NM_001105206.3(LAMA4):c.966+4C>G
NM_001105206.3(LAMA4):c.967-5T>G rs863223692
NM_001114753.3(ENG):c.1064T>C (p.Leu355Pro)
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) rs1131691931
NM_001114753.3(ENG):c.1148C>G (p.Thr383Ser)
NM_001114753.3(ENG):c.1151T>G (p.Ile384Ser)
NM_001114753.3(ENG):c.1211T>C (p.Val404Ala)
NM_001114753.3(ENG):c.1214_1219del (p.Leu405_Ser407delinsCys)
NM_001114753.3(ENG):c.1251_1260delinsTTAC (p.Ala418_Met420delinsTyr)
NM_001114753.3(ENG):c.1274C>A (p.Ala425Glu) rs369997021
NM_001114753.3(ENG):c.1331A>G (p.Asn444Ser)
NM_001114753.3(ENG):c.1429-5T>G
NM_001114753.3(ENG):c.154G>C (p.Gly52Arg)
NM_001114753.3(ENG):c.1643_1653delinsCCGCAGCT (p.Ser548_Val551delinsThrAlaAla)
NM_001114753.3(ENG):c.1655C>T (p.Ala552Val)
NM_001114753.3(ENG):c.1718A>T (p.Asn573Ile)
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) rs1830302008
NM_001114753.3(ENG):c.1883C>T (p.Ala628Val)
NM_001114753.3(ENG):c.1900T>G (p.Ser634Ala)
NM_001114753.3(ENG):c.1904C>T (p.Ser635Leu)
NM_001114753.3(ENG):c.239T>A (p.Leu80Gln)
NM_001114753.3(ENG):c.249G>T (p.Gln83His)
NM_001114753.3(ENG):c.293T>A (p.Val98Asp) rs1830715947
NM_001114753.3(ENG):c.35T>C (p.Leu12Pro) rs1829096574
NM_001114753.3(ENG):c.493C>G (p.Pro165Ala)
NM_001114753.3(ENG):c.502A>T (p.Ile168Phe)
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn) rs147792018
NM_001114753.3(ENG):c.582_584del (p.Glu195del)
NM_001114753.3(ENG):c.707T>A (p.Val236Glu) rs1588582073
NM_001114753.3(ENG):c.707T>C (p.Val236Ala)
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_001114753.3(ENG):c.752T>A (p.Leu251His)
NM_001114753.3(ENG):c.764G>T (p.Gly255Val) rs2131887828
NM_001114753.3(ENG):c.806T>A (p.Met269Lys) rs752331196
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)
NM_001114753.3(ENG):c.908C>A (p.Ala303Asp)
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)
NM_001114753.3(ENG):c.992-3C>G rs1830552318
NM_001114753.3(ENG):c.992-5C>G
NM_001134363.3(RBM20):c.-1C>T
NM_001134363.3(RBM20):c.-2G>T
NM_001134363.3(RBM20):c.104C>G (p.Pro35Arg) rs2134792790
NM_001134363.3(RBM20):c.1051G>C (p.Asp351His) rs372999896
NM_001134363.3(RBM20):c.1060G>C (p.Glu354Gln)
NM_001134363.3(RBM20):c.1063C>A (p.Pro355Thr)
NM_001134363.3(RBM20):c.1072G>A (p.Asp358Asn)
NM_001134363.3(RBM20):c.1079C>T (p.Thr360Ile) rs1477743309
NM_001134363.3(RBM20):c.1096G>T (p.Gly366Cys)
NM_001134363.3(RBM20):c.1099C>T (p.Arg367Trp)
NM_001134363.3(RBM20):c.1118A>G (p.Gln373Arg)
NM_001134363.3(RBM20):c.1144G>T (p.Ala382Ser)
NM_001134363.3(RBM20):c.1178C>T (p.Pro393Leu)
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs) rs1564844428
NM_001134363.3(RBM20):c.124C>T (p.Gln42Ter)
NM_001134363.3(RBM20):c.1263G>A (p.Val421=) rs1844357538
NM_001134363.3(RBM20):c.1289A>C (p.His430Pro)
NM_001134363.3(RBM20):c.128A>C (p.Gln43Pro) rs886046698
NM_001134363.3(RBM20):c.1319G>C (p.Cys440Ser)
NM_001134363.3(RBM20):c.1332del (p.Glu445fs)
NM_001134363.3(RBM20):c.1357C>G (p.Leu453Val)
NM_001134363.3(RBM20):c.1358T>C (p.Leu453Pro)
NM_001134363.3(RBM20):c.1361G>T (p.Gly454Val)
NM_001134363.3(RBM20):c.1417G>A (p.Ala473Thr)
NM_001134363.3(RBM20):c.141_161del (p.Pro48_Pro54del) rs1286990478
NM_001134363.3(RBM20):c.141_161dup (p.Pro48_Pro54dup) rs1286990478
NM_001134363.3(RBM20):c.1487A>T (p.Gln496Leu)
NM_001134363.3(RBM20):c.1527+1G>A
NM_001134363.3(RBM20):c.1543G>A (p.Gly515Arg) rs1235212712
NM_001134363.3(RBM20):c.1558G>A (p.Val520Met) rs1844567016
NM_001134363.3(RBM20):c.1603G>C (p.Val535Leu)
NM_001134363.3(RBM20):c.1603G>T (p.Val535Phe)
NM_001134363.3(RBM20):c.160C>T (p.Pro54Ser)
NM_001134363.3(RBM20):c.1682T>C (p.Met561Thr) rs999297099
NM_001134363.3(RBM20):c.1727A>G (p.Glu576Gly)
NM_001134363.3(RBM20):c.1738G>A (p.Val580Met)
NM_001134363.3(RBM20):c.1745A>T (p.Asn582Ile)
NM_001134363.3(RBM20):c.1766G>T (p.Arg589Leu)
NM_001134363.3(RBM20):c.1769T>G (p.Met590Arg) rs794729147
NM_001134363.3(RBM20):c.1800+1G>A rs1060503414
NM_001134363.3(RBM20):c.1831C>T (p.Gln611Ter)
NM_001134363.3(RBM20):c.1866C>G (p.Phe622Leu)
NM_001134363.3(RBM20):c.1879A>G (p.Arg627Gly)
NM_001134363.3(RBM20):c.1881-2A>G
NM_001134363.3(RBM20):c.1911T>G (p.Ser637Arg)
NM_001134363.3(RBM20):c.1912C>G (p.Pro638Ala)
NM_001134363.3(RBM20):c.1913C>G (p.Pro638Arg) rs267607003
NM_001134363.3(RBM20):c.1915G>A (p.Val639Met) rs1844778442
NM_001134363.3(RBM20):c.1969T>A (p.Ser657Thr)
NM_001134363.3(RBM20):c.1970C>G (p.Ser657Cys)
NM_001134363.3(RBM20):c.1994C>G (p.Ser665Cys)
NM_001134363.3(RBM20):c.1994C>T (p.Ser665Phe)
NM_001134363.3(RBM20):c.1997G>A (p.Arg666Gln)
NM_001134363.3(RBM20):c.2004C>A (p.Asp668Glu) rs749563704
NM_001134363.3(RBM20):c.2031G>T (p.Glu677Asp)
NM_001134363.3(RBM20):c.2041T>C (p.Tyr681His) rs1257262328
NM_001134363.3(RBM20):c.2045C>G (p.Ala682Gly)
NM_001134363.3(RBM20):c.2051G>T (p.Arg684Met)
NM_001134363.3(RBM20):c.2071G>A (p.Ala691Thr)
NM_001134363.3(RBM20):c.2075C>T (p.Pro692Leu)
NM_001134363.3(RBM20):c.20T>C (p.Met7Thr)
NM_001134363.3(RBM20):c.2115C>A (p.Asp705Glu)
NM_001134363.3(RBM20):c.2216G>T (p.Arg739Ile)
NM_001134363.3(RBM20):c.2255A>G (p.Tyr752Cys)
NM_001134363.3(RBM20):c.2263C>G (p.Arg755Gly)
NM_001134363.3(RBM20):c.2264G>T (p.Arg755Leu)
NM_001134363.3(RBM20):c.2306A>G (p.Asp769Gly)
NM_001134363.3(RBM20):c.2324_2358del (p.Gln775fs) rs1554842773
NM_001134363.3(RBM20):c.2338G>T (p.Gly780Trp) rs750988872
NM_001134363.3(RBM20):c.2339G>A (p.Gly780Glu)
NM_001134363.3(RBM20):c.2362G>T (p.Ala788Ser) rs765544509
NM_001134363.3(RBM20):c.237_298del (p.Asn80fs) rs1554898759
NM_001134363.3(RBM20):c.2381G>A (p.Arg794Lys)
NM_001134363.3(RBM20):c.2385C>A (p.His795Gln) rs781166982
NM_001134363.3(RBM20):c.2395G>T (p.Asp799Tyr)
NM_001134363.3(RBM20):c.2396A>T (p.Asp799Val)
NM_001134363.3(RBM20):c.2398G>A (p.Asp800Asn)
NM_001134363.3(RBM20):c.2416G>A (p.Gly806Arg)
NM_001134363.3(RBM20):c.2450G>A (p.Gly817Asp)
NM_001134363.3(RBM20):c.2500G>C (p.Asp834His)
NM_001134363.3(RBM20):c.2504AAG[1] (p.Glu836del) rs1554842819
NM_001134363.3(RBM20):c.2513C>A (p.Ala838Asp)
NM_001134363.3(RBM20):c.2540C>T (p.Ala847Val) rs1844794673
NM_001134363.3(RBM20):c.257C>T (p.Pro86Leu)
NM_001134363.3(RBM20):c.2600del (p.Gly867fs)
NM_001134363.3(RBM20):c.2612AAG[1] (p.Glu872del) rs1236064535
NM_001134363.3(RBM20):c.2667G>A (p.Trp889Ter)
NM_001134363.3(RBM20):c.2694G>C (p.Glu898Asp)
NM_001134363.3(RBM20):c.2719G>A (p.Glu907Lys) rs1564664325
NM_001134363.3(RBM20):c.2719G>T (p.Glu907Ter)
NM_001134363.3(RBM20):c.2723T>C (p.Leu908Pro) rs397516604
NM_001134363.3(RBM20):c.2741T>C (p.Val914Ala) rs794729154
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del) rs765389992
NM_001134363.3(RBM20):c.2749G>C (p.Glu917Gln) rs1844907124
NM_001134363.3(RBM20):c.2752G>A (p.Glu918Lys)
NM_001134363.3(RBM20):c.2764G>T (p.Val922Leu) rs947100716
NM_001134363.3(RBM20):c.2843G>A (p.Cys948Tyr)
NM_001134363.3(RBM20):c.2860G>C (p.Asp954His) rs1554843534
NM_001134363.3(RBM20):c.2905G>T (p.Val969Leu) rs369747752
NM_001134363.3(RBM20):c.2912A>G (p.Asn971Ser)
NM_001134363.3(RBM20):c.2920G>A (p.Ala974Thr)
NM_001134363.3(RBM20):c.2941C>G (p.Pro981Ala)
NM_001134363.3(RBM20):c.2945G>T (p.Arg982Ile) rs1387852539
NM_001134363.3(RBM20):c.2984T>C (p.Met995Thr)
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met) rs372370653
NM_001134363.3(RBM20):c.2989G>T (p.Val997Leu) rs372370653
NM_001134363.3(RBM20):c.3015T>G (p.Asp1005Glu)
NM_001134363.3(RBM20):c.3019G>A (p.Glu1007Lys)
NM_001134363.3(RBM20):c.302A>G (p.His101Arg)
NM_001134363.3(RBM20):c.3047G>A (p.Gly1016Asp) rs540014314
NM_001134363.3(RBM20):c.3088A>C (p.Lys1030Gln)
NM_001134363.3(RBM20):c.3091G>T (p.Gly1031Ter) rs794729157
NM_001134363.3(RBM20):c.3155C>T (p.Ala1052Val) rs1276115385
NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly) rs199830512
NM_001134363.3(RBM20):c.317C>T (p.Ala106Val)
NM_001134363.3(RBM20):c.3190G>T (p.Asp1064Tyr)
NM_001134363.3(RBM20):c.3201G>T (p.Lys1067Asn)
NM_001134363.3(RBM20):c.3218A>C (p.Glu1073Ala)
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001134363.3(RBM20):c.3266C>A (p.Pro1089His) rs772708424
NM_001134363.3(RBM20):c.3269T>A (p.Ile1090Asn)
NM_001134363.3(RBM20):c.3280C>G (p.Leu1094Val)
NM_001134363.3(RBM20):c.3283C>T (p.Gln1095Ter)
NM_001134363.3(RBM20):c.3304G>T (p.Val1102Leu)
NM_001134363.3(RBM20):c.3339G>A (p.Met1113Ile)
NM_001134363.3(RBM20):c.338A>C (p.Asn113Thr)
NM_001134363.3(RBM20):c.3395T>G (p.Leu1132Arg)
NM_001134363.3(RBM20):c.3422A>T (p.Asp1141Val)
NM_001134363.3(RBM20):c.3485A>G (p.Tyr1162Cys)
NM_001134363.3(RBM20):c.3488G>A (p.Cys1163Tyr)
NM_001134363.3(RBM20):c.348del (p.Ala117fs)
NM_001134363.3(RBM20):c.3512C>A (p.Thr1171Lys) rs371181124
NM_001134363.3(RBM20):c.3517G>A (p.Glu1173Lys) rs542297252
NM_001134363.3(RBM20):c.353C>T (p.Thr118Ile) rs2135041252
NM_001134363.3(RBM20):c.3557A>G (p.His1186Arg) rs1845047234
NM_001134363.3(RBM20):c.3564G>C (p.Arg1188Ser) rs1060503416
NM_001134363.3(RBM20):c.3566A>T (p.Asn1189Ile)
NM_001134363.3(RBM20):c.3666C>G (p.Phe1222Leu)
NM_001134363.3(RBM20):c.369C>A (p.Val123=)
NM_001134363.3(RBM20):c.380T>C (p.Val127Ala)
NM_001134363.3(RBM20):c.419C>A (p.Pro140Gln)
NM_001134363.3(RBM20):c.452G>A (p.Gly151Glu)
NM_001134363.3(RBM20):c.465TGC[1] (p.Ala158del) rs1231520936
NM_001134363.3(RBM20):c.490T>G (p.Phe164Val)
NM_001134363.3(RBM20):c.505A>G (p.Ile169Val) rs2135041793
NM_001134363.3(RBM20):c.508G>A (p.Ala170Thr)
NM_001134363.3(RBM20):c.521C>G (p.Pro174Arg)
NM_001134363.3(RBM20):c.522dup (p.Ser175fs)
NM_001134363.3(RBM20):c.533G>C (p.Arg178Pro) rs561085365
NM_001134363.3(RBM20):c.536_537delinsTT (p.Gly179Val) rs2135041998
NM_001134363.3(RBM20):c.551T>C (p.Met184Thr) rs2135042080
NM_001134363.3(RBM20):c.578C>G (p.Ala193Gly)
NM_001134363.3(RBM20):c.586A>T (p.Met196Leu)
NM_001134363.3(RBM20):c.632C>T (p.Ala211Val)
NM_001134363.3(RBM20):c.68C>G (p.Ala23Gly)
NM_001134363.3(RBM20):c.700G>A (p.Ala234Thr) rs1554898862
NM_001134363.3(RBM20):c.743C>T (p.Pro248Leu)
NM_001134363.3(RBM20):c.767C>T (p.Ser256Leu)
NM_001134363.3(RBM20):c.776G>A (p.Gly259Asp)
NM_001134363.3(RBM20):c.807C>G (p.His269Gln)
NM_001134363.3(RBM20):c.80C>A (p.Pro27His)
NM_001134363.3(RBM20):c.820G>A (p.Gly274Ser)
NM_001134363.3(RBM20):c.843T>A (p.Asp281Glu)
NM_001134363.3(RBM20):c.844T>G (p.Phe282Val) rs2135043456
NM_001134363.3(RBM20):c.88C>G (p.Arg30Gly)
NM_001134363.3(RBM20):c.929C>T (p.Pro310Leu)
NM_001134363.3(RBM20):c.973T>C (p.Phe325Leu)
NM_001134363.3(RBM20):c.98del (p.Pro33fs) rs1413443268
NM_001148.6(ANK2):c.1003C>T (p.Pro335Ser)
NM_001148.6(ANK2):c.10117G>A (p.Ala3373Thr)
NM_001148.6(ANK2):c.10210C>T (p.Pro3404Ser)
NM_001148.6(ANK2):c.10223G>T (p.Arg3408Leu)
NM_001148.6(ANK2):c.10250G>A (p.Ser3417Asn)
NM_001148.6(ANK2):c.10259G>A (p.Arg3420Lys)
NM_001148.6(ANK2):c.10294G>T (p.Ala3432Ser) rs1564065329
NM_001148.6(ANK2):c.10310T>C (p.Ile3437Thr) rs886039169
NM_001148.6(ANK2):c.10375C>G (p.Pro3459Ala) rs761631834
NM_001148.6(ANK2):c.10396C>T (p.His3466Tyr)
NM_001148.6(ANK2):c.10439A>G (p.Glu3480Gly)
NM_001148.6(ANK2):c.10529C>T (p.Ala3510Val)
NM_001148.6(ANK2):c.10685C>T (p.Pro3562Leu) rs779374859
NM_001148.6(ANK2):c.10697A>C (p.Gln3566Pro)
NM_001148.6(ANK2):c.10742G>A (p.Gly3581Asp)
NM_001148.6(ANK2):c.10787A>T (p.Glu3596Val)
NM_001148.6(ANK2):c.10797T>A (p.His3599Gln)
NM_001148.6(ANK2):c.10820A>G (p.Asn3607Ser) rs367788127
NM_001148.6(ANK2):c.10854G>C (p.Lys3618Asn)
NM_001148.6(ANK2):c.10877A>C (p.Lys3626Thr)
NM_001148.6(ANK2):c.10931A>G (p.Asp3644Gly) rs997833950
NM_001148.6(ANK2):c.10996G>A (p.Glu3666Lys)
NM_001148.6(ANK2):c.11009C>T (p.Thr3670Ile) rs45608232
NM_001148.6(ANK2):c.11015C>T (p.Thr3672Ile)
NM_001148.6(ANK2):c.11017C>G (p.Leu3673Val)
NM_001148.6(ANK2):c.11056T>G (p.Leu3686Val)
NM_001148.6(ANK2):c.11086G>C (p.Glu3696Gln)
NM_001148.6(ANK2):c.11105A>G (p.Glu3702Gly)
NM_001148.6(ANK2):c.11110G>A (p.Glu3704Lys)
NM_001148.6(ANK2):c.11131A>G (p.Ile3711Val)
NM_001148.6(ANK2):c.11171T>G (p.Phe3724Cys)
NM_001148.6(ANK2):c.11182G>C (p.Val3728Leu)
NM_001148.6(ANK2):c.11229A>C (p.Gln3743His)
NM_001148.6(ANK2):c.11229A>T (p.Gln3743His) rs786205738
NM_001148.6(ANK2):c.11242C>A (p.Gln3748Lys)
NM_001148.6(ANK2):c.11271G>A (p.Met3757Ile)
NM_001148.6(ANK2):c.11308C>A (p.Gln3770Lys)
NM_001148.6(ANK2):c.11321T>C (p.Val3774Ala)
NM_001148.6(ANK2):c.11324C>T (p.Thr3775Ile)
NM_001148.6(ANK2):c.1136G>A (p.Arg379His) rs186264035
NM_001148.6(ANK2):c.11383A>T (p.Ser3795Cys)
NM_001148.6(ANK2):c.11392C>G (p.Pro3798Ala)
NM_001148.6(ANK2):c.113C>T (p.Ala38Val) rs2098116035
NM_001148.6(ANK2):c.11418G>C (p.Glu3806Asp)
NM_001148.6(ANK2):c.11455G>A (p.Glu3819Lys)
NM_001148.6(ANK2):c.11458C>T (p.Arg3820Trp)
NM_001148.6(ANK2):c.11509G>C (p.Glu3837Gln) rs766615247
NM_001148.6(ANK2):c.11537T>A (p.Leu3846His)
NM_001148.6(ANK2):c.11567C>A (p.Pro3856His) rs1290892227
NM_001148.6(ANK2):c.11587G>A (p.Asp3863Asn) rs886039041
NM_001148.6(ANK2):c.11612G>A (p.Gly3871Glu)
NM_001148.6(ANK2):c.11632C>T (p.Pro3878Ser)
NM_001148.6(ANK2):c.11636C>T (p.Pro3879Leu)
NM_001148.6(ANK2):c.11639A>G (p.Glu3880Gly)
NM_001148.6(ANK2):c.1163G>T (p.Arg388Ile)
NM_001148.6(ANK2):c.11693A>T (p.Lys3898Met)
NM_001148.6(ANK2):c.11706A>C (p.Lys3902Asn)
NM_001148.6(ANK2):c.11720A>C (p.Tyr3907Ser)
NM_001148.6(ANK2):c.11736C>T (p.Gly3912=)
NM_001148.6(ANK2):c.11765G>A (p.Gly3922Glu)
NM_001148.6(ANK2):c.11800del (p.Asp3934fs)
NM_001148.6(ANK2):c.11807A>C (p.Tyr3936Ser)
NM_001148.6(ANK2):c.11807A>G (p.Tyr3936Cys) rs377555678
NM_001148.6(ANK2):c.11813A>C (p.Lys3938Thr) rs568549084
NM_001148.6(ANK2):c.11840G>A (p.Ser3947Asn)
NM_001148.6(ANK2):c.11859+2T>C
NM_001148.6(ANK2):c.11859+2T>G
NM_001148.6(ANK2):c.11863A>G (p.Asn3955Asp) rs1060501165
NM_001148.6(ANK2):c.11866A>G (p.Asn3956Asp)
NM_001148.6(ANK2):c.1228C>T (p.Arg410Cys)
NM_001148.6(ANK2):c.1294C>T (p.Leu432Phe) rs144113099
NM_001148.6(ANK2):c.1297A>G (p.Thr433Ala)
NM_001148.6(ANK2):c.1360G>A (p.Gly454Arg)
NM_001148.6(ANK2):c.1364C>A (p.Ala455Asp) rs1305931806
NM_001148.6(ANK2):c.1375G>A (p.Val459Ile)
NM_001148.6(ANK2):c.1378A>G (p.Thr460Ala) rs368129159
NM_001148.6(ANK2):c.1414G>A (p.Ala472Thr)
NM_001148.6(ANK2):c.1418G>A (p.Arg473Gln)
NM_001148.6(ANK2):c.1442G>A (p.Arg481Gln) rs2055114546
NM_001148.6(ANK2):c.1444T>C (p.Cys482Arg)
NM_001148.6(ANK2):c.1460G>A (p.Gly487Asp)
NM_001148.6(ANK2):c.1525A>G (p.Lys509Glu)
NM_001148.6(ANK2):c.1588G>A (p.Gly530Arg)
NM_001148.6(ANK2):c.1682A>G (p.Lys561Arg)
NM_001148.6(ANK2):c.1705G>A (p.Val569Ile)
NM_001148.6(ANK2):c.1733T>C (p.Val578Ala)
NM_001148.6(ANK2):c.1735G>A (p.Ala579Thr)
NM_001148.6(ANK2):c.1742T>A (p.Leu581His)
NM_001148.6(ANK2):c.1753C>T (p.Arg585Cys)
NM_001148.6(ANK2):c.1754G>T (p.Arg585Leu)
NM_001148.6(ANK2):c.1765G>A (p.Ala589Thr) rs1288246947
NM_001148.6(ANK2):c.176C>T (p.Thr59Ile) rs786205718
NM_001148.6(ANK2):c.1783-3C>T rs1554403492
NM_001148.6(ANK2):c.1790T>G (p.Leu597Arg)
NM_001148.6(ANK2):c.1801C>A (p.His601Asn)
NM_001148.6(ANK2):c.186+5G>T
NM_001148.6(ANK2):c.187-8TC[2] rs1060501160
NM_001148.6(ANK2):c.1874C>A (p.Thr625Asn)
NM_001148.6(ANK2):c.1895C>T (p.Pro632Leu) rs929567243
NM_001148.6(ANK2):c.1920T>A (p.Asn640Lys) rs2153713584
NM_001148.6(ANK2):c.1950C>A (p.Asn650Lys)
NM_001148.6(ANK2):c.1968C>G (p.Asn656Lys)
NM_001148.6(ANK2):c.2017G>C (p.Gly673Arg)
NM_001148.6(ANK2):c.2018G>T (p.Gly673Val) rs947398548
NM_001148.6(ANK2):c.202C>G (p.Leu68Val)
NM_001148.6(ANK2):c.2040G>T (p.Leu680Phe)
NM_001148.6(ANK2):c.2054G>C (p.Gly685Ala) rs1200160910
NM_001148.6(ANK2):c.2054G>T (p.Gly685Val) rs1200160910
NM_001148.6(ANK2):c.2068A>G (p.Met690Val)
NM_001148.6(ANK2):c.2069T>C (p.Met690Thr)
NM_001148.6(ANK2):c.2150A>C (p.His717Pro)
NM_001148.6(ANK2):c.2166T>A (p.Asp722Glu)
NM_001148.6(ANK2):c.2173A>G (p.Thr725Ala)
NM_001148.6(ANK2):c.2204C>T (p.Ala735Val) rs868661838
NM_001148.6(ANK2):c.224G>C (p.Gly75Ala)
NM_001148.6(ANK2):c.2290C>T (p.Pro764Ser)
NM_001148.6(ANK2):c.2323C>A (p.His775Asn)
NM_001148.6(ANK2):c.2326A>G (p.Ile776Val) rs947769072
NM_001148.6(ANK2):c.2365G>A (p.Ala789Thr)
NM_001148.6(ANK2):c.2375C>A (p.Ala792Glu)
NM_001148.6(ANK2):c.2377-7_2377-4del
NM_001148.6(ANK2):c.2460CAC[6] (p.Thr826dup) rs770530257
NM_001148.6(ANK2):c.2477C>G (p.Thr826Ser)
NM_001148.6(ANK2):c.2513C>T (p.Thr838Met)
NM_001148.6(ANK2):c.2541T>G (p.Asp847Glu)
NM_001148.6(ANK2):c.2549-3A>G
NM_001148.6(ANK2):c.2573G>A (p.Gly858Glu)
NM_001148.6(ANK2):c.2579A>C (p.Glu860Ala) rs2079826770
NM_001148.6(ANK2):c.260G>A (p.Gly87Glu)
NM_001148.6(ANK2):c.2685_2693+30dup
NM_001148.6(ANK2):c.271G>A (p.Asp91Asn)
NM_001148.6(ANK2):c.2766G>A (p.Met922Ile) rs748939338
NM_001148.6(ANK2):c.2770G>T (p.Asp924Tyr)
NM_001148.6(ANK2):c.2815G>A (p.Glu939Lys)
NM_001148.6(ANK2):c.2822A>G (p.Glu941Gly)
NM_001148.6(ANK2):c.2843G>A (p.Ser948Asn)
NM_001148.6(ANK2):c.2843G>T (p.Ser948Ile)
NM_001148.6(ANK2):c.286-3C>T
NM_001148.6(ANK2):c.2891T>C (p.Ile964Thr)
NM_001148.6(ANK2):c.2894A>G (p.His965Arg)
NM_001148.6(ANK2):c.2917A>C (p.Met973Leu)
NM_001148.6(ANK2):c.2926G>T (p.Ala976Ser)
NM_001148.6(ANK2):c.3020G>A (p.Arg1007Gln) rs1554509161
NM_001148.6(ANK2):c.3037A>T (p.Arg1013Ter)
NM_001148.6(ANK2):c.3068G>A (p.Gly1023Glu) rs1563809304
NM_001148.6(ANK2):c.3074G>T (p.Gly1025Val) rs773532854
NM_001148.6(ANK2):c.3173G>A (p.Ser1058Asn)
NM_001148.6(ANK2):c.3185G>A (p.Arg1062His)
NM_001148.6(ANK2):c.3255G>A (p.Ala1085=) rs56173868
NM_001148.6(ANK2):c.3268A>G (p.Lys1090Glu) rs1384689202
NM_001148.6(ANK2):c.3278A>T (p.Glu1093Val)
NM_001148.6(ANK2):c.32A>T (p.Asp11Val)
NM_001148.6(ANK2):c.3303T>G (p.Asn1101Lys) rs1588425694
NM_001148.6(ANK2):c.3317A>C (p.Lys1106Thr)
NM_001148.6(ANK2):c.3370A>C (p.Met1124Leu)
NM_001148.6(ANK2):c.3370A>G (p.Met1124Val)
NM_001148.6(ANK2):c.3379+4C>A rs752152002
NM_001148.6(ANK2):c.3391C>A (p.Pro1131Thr)
NM_001148.6(ANK2):c.3418T>G (p.Cys1140Gly)
NM_001148.6(ANK2):c.3434G>A (p.Arg1145Gln) rs2093465785
NM_001148.6(ANK2):c.3505G>T (p.Gly1169Cys)
NM_001148.6(ANK2):c.3508G>A (p.Val1170Ile)
NM_001148.6(ANK2):c.350T>C (p.Val117Ala)
NM_001148.6(ANK2):c.3542C>T (p.Ala1181Val)
NM_001148.6(ANK2):c.3544G>A (p.Val1182Ile)
NM_001148.6(ANK2):c.3580G>A (p.Val1194Ile)
NM_001148.6(ANK2):c.3640G>A (p.Ala1214Thr) rs766019055
NM_001148.6(ANK2):c.3644C>T (p.Thr1215Ile)
NM_001148.6(ANK2):c.3655A>G (p.Ile1219Val)
NM_001148.6(ANK2):c.3730A>G (p.Ser1244Gly)
NM_001148.6(ANK2):c.3736G>T (p.Val1246Phe)
NM_001148.6(ANK2):c.3748G>A (p.Gly1250Ser)
NM_001148.6(ANK2):c.3764C>T (p.Ala1255Val)
NM_001148.6(ANK2):c.3767C>T (p.Pro1256Leu)
NM_001148.6(ANK2):c.387T>A (p.Asn129Lys)
NM_001148.6(ANK2):c.3893+5C>T
NM_001148.6(ANK2):c.3939T>G (p.Phe1313Leu)
NM_001148.6(ANK2):c.3948A>C (p.Gln1316His)
NM_001148.6(ANK2):c.3970G>C (p.Val1324Leu)
NM_001148.6(ANK2):c.4019T>C (p.Ile1340Thr)
NM_001148.6(ANK2):c.4055A>G (p.Asp1352Gly) rs2153979257
NM_001148.6(ANK2):c.4056T>A (p.Asp1352Glu)
NM_001148.6(ANK2):c.4114G>A (p.Asp1372Asn)
NM_001148.6(ANK2):c.4122+4C>T
NM_001148.6(ANK2):c.413C>T (p.Ala138Val)
NM_001148.6(ANK2):c.4147G>C (p.Val1383Leu) rs764532145
NM_001148.6(ANK2):c.4156T>C (p.Phe1386Leu)
NM_001148.6(ANK2):c.4176A>C (p.Leu1392Phe)
NM_001148.6(ANK2):c.4180A>G (p.Lys1394Glu)
NM_001148.6(ANK2):c.4206T>G (p.Ser1402Arg)
NM_001148.6(ANK2):c.4209T>A (p.Phe1403Leu)
NM_001148.6(ANK2):c.4235C>G (p.Pro1412Arg)
NM_001148.6(ANK2):c.4299G>T (p.Glu1433Asp) rs755562417
NM_001148.6(ANK2):c.4364A>T (p.Tyr1455Phe)
NM_001148.6(ANK2):c.4375T>A (p.Ser1459Thr)
NM_001148.6(ANK2):c.4397A>T (p.Glu1466Val)
NM_001148.6(ANK2):c.4456G>A (p.Val1486Ile)
NM_001148.6(ANK2):c.449T>C (p.Leu150Pro)
NM_001148.6(ANK2):c.4520T>G (p.Val1507Gly)
NM_001148.6(ANK2):c.4559T>C (p.Ile1520Thr)
NM_001148.6(ANK2):c.4594A>T (p.Ile1532Phe)
NM_001148.6(ANK2):c.4618G>T (p.Ala1540Ser) rs767390750
NM_001148.6(ANK2):c.4642C>A (p.Pro1548Thr)
NM_001148.6(ANK2):c.469A>G (p.Ser157Gly)
NM_001148.6(ANK2):c.4732G>A (p.Val1578Met) rs1554550420
NM_001148.6(ANK2):c.48C>G (p.Phe16Leu)
NM_001148.6(ANK2):c.49A>G (p.Asn17Asp)
NM_001148.6(ANK2):c.4A>G (p.Met2Val)
NM_001148.6(ANK2):c.5017A>G (p.Arg1673Gly) rs886038862
NM_001148.6(ANK2):c.5051C>T (p.Pro1684Leu)
NM_001148.6(ANK2):c.5136G>C (p.Gln1712His) rs773125026
NM_001148.6(ANK2):c.5146G>A (p.Glu1716Lys)
NM_001148.6(ANK2):c.5234C>G (p.Pro1745Arg) rs751038588
NM_001148.6(ANK2):c.5266C>G (p.Pro1756Ala)
NM_001148.6(ANK2):c.530A>T (p.Gln177Leu)
NM_001148.6(ANK2):c.532G>T (p.Ala178Ser)
NM_001148.6(ANK2):c.5351G>A (p.Arg1784Gln) rs777085522
NM_001148.6(ANK2):c.5369G>A (p.Arg1790Lys)
NM_001148.6(ANK2):c.5385G>T (p.Glu1795Asp)
NM_001148.6(ANK2):c.5441A>C (p.Lys1814Thr)
NM_001148.6(ANK2):c.5442G>T (p.Lys1814Asn)
NM_001148.6(ANK2):c.5486G>A (p.Arg1829Lys)
NM_001148.6(ANK2):c.5492C>T (p.Ser1831Phe) rs1259276813
NM_001148.6(ANK2):c.5571_5642del (p.Ala1861_Ser1884del) rs2095591008
NM_001148.6(ANK2):c.5595A>T (p.Arg1865Ser)
NM_001148.6(ANK2):c.5615C>T (p.Ser1872Leu)
NM_001148.6(ANK2):c.5716C>G (p.Pro1906Ala)
NM_001148.6(ANK2):c.5756C>A (p.Ser1919Tyr)
NM_001148.6(ANK2):c.575G>A (p.Arg192Lys)
NM_001148.6(ANK2):c.5777C>G (p.Pro1926Arg)
NM_001148.6(ANK2):c.5849C>A (p.Pro1950His)
NM_001148.6(ANK2):c.5852T>C (p.Val1951Ala)
NM_001148.6(ANK2):c.598G>A (p.Ala200Thr)
NM_001148.6(ANK2):c.6004G>A (p.Asp2002Asn)
NM_001148.6(ANK2):c.6069G>C (p.Glu2023Asp)
NM_001148.6(ANK2):c.6088G>A (p.Glu2030Lys) rs1226590997
NM_001148.6(ANK2):c.6239C>G (p.Ala2080Gly)
NM_001148.6(ANK2):c.6247G>A (p.Gly2083Arg)
NM_001148.6(ANK2):c.625G>T (p.Ala209Ser) rs1060501154
NM_001148.6(ANK2):c.6286G>A (p.Val2096Ile) rs781709192
NM_001148.6(ANK2):c.6311G>A (p.Ser2104Asn)
NM_001148.6(ANK2):c.6385G>A (p.Asp2129Asn)
NM_001148.6(ANK2):c.6542A>G (p.Asp2181Gly)
NM_001148.6(ANK2):c.6547A>G (p.Met2183Val) rs773708100
NM_001148.6(ANK2):c.6559T>C (p.Phe2187Leu)
NM_001148.6(ANK2):c.6609A>C (p.Glu2203Asp)
NM_001148.6(ANK2):c.661C>A (p.Gln221Lys)
NM_001148.6(ANK2):c.6629T>C (p.Val2210Ala)
NM_001148.6(ANK2):c.6629T>G (p.Val2210Gly) rs886038889
NM_001148.6(ANK2):c.6718C>A (p.Pro2240Thr) rs752841046
NM_001148.6(ANK2):c.6736A>G (p.Ser2246Gly)
NM_001148.6(ANK2):c.6756G>T (p.Lys2252Asn)
NM_001148.6(ANK2):c.6835C>T (p.His2279Tyr)
NM_001148.6(ANK2):c.7019C>A (p.Pro2340His)
NM_001148.6(ANK2):c.7042G>A (p.Ala2348Thr) rs1466354397
NM_001148.6(ANK2):c.7055G>A (p.Gly2352Asp)
NM_001148.6(ANK2):c.7105_7106delinsTC (p.Val2369Ser)
NM_001148.6(ANK2):c.7132G>C (p.Glu2378Gln)
NM_001148.6(ANK2):c.7180G>A (p.Gly2394Arg)
NM_001148.6(ANK2):c.7195C>T (p.Pro2399Ser)
NM_001148.6(ANK2):c.7205T>G (p.Val2402Gly)
NM_001148.6(ANK2):c.7231C>T (p.Leu2411Phe)
NM_001148.6(ANK2):c.7244G>C (p.Ser2415Thr)
NM_001148.6(ANK2):c.7253G>A (p.Ser2418Asn)
NM_001148.6(ANK2):c.7289C>T (p.Ala2430Val)
NM_001148.6(ANK2):c.7322C>T (p.Pro2441Leu)
NM_001148.6(ANK2):c.7347C>G (p.His2449Gln)
NM_001148.6(ANK2):c.7379T>C (p.Leu2460Pro) rs1294965906
NM_001148.6(ANK2):c.7417C>G (p.Pro2473Ala)
NM_001148.6(ANK2):c.7535A>T (p.Asp2512Val)
NM_001148.6(ANK2):c.7579C>T (p.Leu2527Phe) rs886059015
NM_001148.6(ANK2):c.7663A>G (p.Thr2555Ala)
NM_001148.6(ANK2):c.7664C>A (p.Thr2555Lys)
NM_001148.6(ANK2):c.7685C>T (p.Pro2562Leu) rs886039184
NM_001148.6(ANK2):c.7706C>T (p.Ala2569Val)
NM_001148.6(ANK2):c.7763T>G (p.Met2588Arg)
NM_001148.6(ANK2):c.7805A>G (p.Glu2602Gly)
NM_001148.6(ANK2):c.7834A>G (p.Lys2612Glu) rs886038874
NM_001148.6(ANK2):c.7909C>T (p.Pro2637Ser)
NM_001148.6(ANK2):c.7945G>A (p.Val2649Ile)
NM_001148.6(ANK2):c.8016G>C (p.Gln2672His)
NM_001148.6(ANK2):c.8027G>A (p.Gly2676Asp) rs752323136
NM_001148.6(ANK2):c.8027G>T (p.Gly2676Val)
NM_001148.6(ANK2):c.8155A>G (p.Thr2719Ala) rs1554563090
NM_001148.6(ANK2):c.8300A>C (p.Asp2767Ala)
NM_001148.6(ANK2):c.8318A>T (p.Asp2773Val)
NM_001148.6(ANK2):c.8351G>A (p.Ser2784Asn)
NM_001148.6(ANK2):c.85-3C>T
NM_001148.6(ANK2):c.8515T>G (p.Cys2839Gly)
NM_001148.6(ANK2):c.8528G>A (p.Ser2843Asn)
NM_001148.6(ANK2):c.8573G>C (p.Gly2858Ala)
NM_001148.6(ANK2):c.8693C>T (p.Thr2898Ile)
NM_001148.6(ANK2):c.8720A>T (p.Asp2907Val)
NM_001148.6(ANK2):c.8725C>A (p.Pro2909Thr)
NM_001148.6(ANK2):c.8757C>G (p.Ile2919Met)
NM_001148.6(ANK2):c.8776A>C (p.Ser2926Arg)
NM_001148.6(ANK2):c.8813C>G (p.Ser2938Cys)
NM_001148.6(ANK2):c.8857A>G (p.Ser2953Gly)
NM_001148.6(ANK2):c.8912T>C (p.Val2971Ala)
NM_001148.6(ANK2):c.8953G>A (p.Glu2985Lys)
NM_001148.6(ANK2):c.9002G>A (p.Ser3001Asn)
NM_001148.6(ANK2):c.9018G>A (p.Met3006Ile)
NM_001148.6(ANK2):c.9035C>T (p.Ser3012Phe)
NM_001148.6(ANK2):c.9117T>G (p.Asp3039Glu)
NM_001148.6(ANK2):c.9146G>A (p.Arg3049Gln) rs1717042447
NM_001148.6(ANK2):c.9161C>T (p.Ala3054Val) rs139007578
NM_001148.6(ANK2):c.9205T>G (p.Leu3069Val)
NM_001148.6(ANK2):c.9208A>G (p.Met3070Val) rs2095893623
NM_001148.6(ANK2):c.9236C>T (p.Thr3079Ile)
NM_001148.6(ANK2):c.9245C>T (p.Thr3082Ile) rs770289485
NM_001148.6(ANK2):c.9341G>C (p.Ser3114Thr)
NM_001148.6(ANK2):c.9413C>A (p.Ser3138Tyr)
NM_001148.6(ANK2):c.9422A>G (p.Glu3141Gly)
NM_001148.6(ANK2):c.9455C>A (p.Thr3152Asn)
NM_001148.6(ANK2):c.9673C>A (p.Leu3225Ile)
NM_001148.6(ANK2):c.9733C>T (p.Pro3245Ser)
NM_001148.6(ANK2):c.9793G>T (p.Val3265Phe)
NM_001148.6(ANK2):c.9855C>G (p.Ile3285Met)
NM_001148.6(ANK2):c.9883G>A (p.Val3295Met)
NM_001148.6(ANK2):c.9887C>T (p.Pro3296Leu)
NM_001148.6(ANK2):c.990+3G>A
NM_001148.6(ANK2):c.9908A>G (p.Lys3303Arg)
NM_001148.6(ANK2):c.9964G>C (p.Glu3322Gln)
NM_001148.6(ANK2):c.9997G>A (p.Val3333Ile)
NM_001159699.2(FHL1):c.178C>T (p.Arg60Cys)
NM_001159699.2(FHL1):c.187A>T (p.Ile63Phe)
NM_001159699.2(FHL1):c.239C>A (p.Thr80Asn) rs746834335
NM_001159699.2(FHL1):c.287T>C (p.Phe96Ser)
NM_001159699.2(FHL1):c.353A>G (p.Lys118Arg)
NM_001159699.2(FHL1):c.365A>G (p.Lys122Arg)
NM_001159699.2(FHL1):c.458G>T (p.Gly153Val)
NM_001159699.2(FHL1):c.515C>T (p.Thr172Ile)
NM_001159699.2(FHL1):c.534C>G (p.Cys178Trp) rs377693754
NM_001159699.2(FHL1):c.535G>A (p.Val179Met)
NM_001159699.2(FHL1):c.653C>T (p.Ala218Val)
NM_001159699.2(FHL1):c.676G>A (p.Val226Met)
NM_001159699.2(FHL1):c.684C>G (p.Cys228Trp)
NM_001159699.2(FHL1):c.77G>A (p.Cys26Tyr) rs2148371537
NM_001159699.2(FHL1):c.80G>A (p.Arg27Lys)
NM_001159699.2(FHL1):c.810dup (p.Cys271fs) rs2073964376
NM_001159699.2(FHL1):c.817G>C (p.Val273Leu) rs190006104
NM_001159699.2(FHL1):c.835C>T (p.Arg279Cys)
NM_001159699.2(FHL1):c.852G>C (p.Gln284His) rs774024150
NM_001159699.2(FHL1):c.868C>T (p.Pro290Ser) rs1039991254
NM_001159699.2(FHL1):c.891A>T (p.Ter297Tyr)
NM_001232.4(CASQ2):c.1030A>T (p.Met344Leu) rs1295335060
NM_001232.4(CASQ2):c.1044TGA[1] (p.Asp351del)
NM_001232.4(CASQ2):c.1082G>C (p.Trp361Ser) rs786205792
NM_001232.4(CASQ2):c.1084A>C (p.Ile362Leu)
NM_001232.4(CASQ2):c.1131_1133del (p.Glu377del) rs765914619
NM_001232.4(CASQ2):c.1131_1139del (p.Glu377_Asp379del)
NM_001232.4(CASQ2):c.1159G>A (p.Glu387Lys)
NM_001232.4(CASQ2):c.115G>C (p.Glu39Gln)
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.118A>G (p.Lys40Glu) rs786205797
NM_001232.4(CASQ2):c.1196A>C (p.Glu399Ala)
NM_001232.4(CASQ2):c.178G>C (p.Val60Leu)
NM_001232.4(CASQ2):c.258T>G (p.His86Gln)
NM_001232.4(CASQ2):c.265A>G (p.Ile89Val)
NM_001232.4(CASQ2):c.268G>C (p.Gly90Arg)
NM_001232.4(CASQ2):c.271T>C (p.Phe91Leu) rs1181984320
NM_001232.4(CASQ2):c.279G>A (p.Met93Ile)
NM_001232.4(CASQ2):c.290A>C (p.Lys97Thr)
NM_001232.4(CASQ2):c.299C>T (p.Ala100Val)
NM_001232.4(CASQ2):c.31A>T (p.Ile11Phe) rs2101130741
NM_001232.4(CASQ2):c.320-3C>T
NM_001232.4(CASQ2):c.320-5T>C
NM_001232.4(CASQ2):c.326A>T (p.Asp109Val) rs946911897
NM_001232.4(CASQ2):c.337A>G (p.Ser113Gly)
NM_001232.4(CASQ2):c.362G>A (p.Arg121His)
NM_001232.4(CASQ2):c.362G>T (p.Arg121Leu)
NM_001232.4(CASQ2):c.382G>A (p.Glu128Lys) rs1557798151
NM_001232.4(CASQ2):c.389C>T (p.Ala130Val)
NM_001232.4(CASQ2):c.38T>C (p.Phe13Ser)
NM_001232.4(CASQ2):c.395A>T (p.Asp132Val)
NM_001232.4(CASQ2):c.401T>G (p.Leu134Trp)
NM_001232.4(CASQ2):c.440A>G (p.Glu147Gly) rs1553195093
NM_001232.4(CASQ2):c.481A>C (p.Ile161Leu) rs146333579
NM_001232.4(CASQ2):c.493A>G (p.Ile165Val)
NM_001232.4(CASQ2):c.4A>G (p.Lys2Glu)
NM_001232.4(CASQ2):c.562C>T (p.His188Tyr)
NM_001232.4(CASQ2):c.589G>T (p.Ala197Ser)
NM_001232.4(CASQ2):c.61G>A (p.Glu21Lys)
NM_001232.4(CASQ2):c.64G>A (p.Gly22Arg)
NM_001232.4(CASQ2):c.676G>T (p.Ala226Ser)
NM_001232.4(CASQ2):c.691C>T (p.Pro231Ser) rs749796276
NM_001232.4(CASQ2):c.692C>T (p.Pro231Leu) rs780769796
NM_001232.4(CASQ2):c.713T>C (p.Val238Ala)
NM_001232.4(CASQ2):c.749G>A (p.Arg250His)
NM_001232.4(CASQ2):c.749G>T (p.Arg250Leu) rs187306418
NM_001232.4(CASQ2):c.757C>T (p.Arg253Cys) rs727504510
NM_001232.4(CASQ2):c.775G>C (p.Glu259Gln)
NM_001232.4(CASQ2):c.776A>G (p.Glu259Gly)
NM_001232.4(CASQ2):c.784G>A (p.Glu262Lys)
NM_001232.4(CASQ2):c.808A>C (p.Ile270Leu)
NM_001232.4(CASQ2):c.808A>G (p.Ile270Val)
NM_001232.4(CASQ2):c.823G>C (p.Glu275Gln)
NM_001232.4(CASQ2):c.91A>G (p.Lys31Glu)
NM_001232.4(CASQ2):c.932T>G (p.Phe311Cys)
NM_001232.4(CASQ2):c.933T>A (p.Phe311Leu) rs769960615
NM_001232.4(CASQ2):c.954G>C (p.Trp318Cys)
NM_001232.4(CASQ2):c.988C>G (p.Gln330Glu)
NM_001232.4(CASQ2):c.997G>T (p.Val333Leu)
NM_001267550.2(TTN):c.100019A>G (p.Gln33340Arg)
NM_001267550.2(TTN):c.100061T>C (p.Val33354Ala)
NM_001267550.2(TTN):c.100112C>T (p.Thr33371Ile)
NM_001267550.2(TTN):c.100172-3T>C rs1312922352
NM_001267550.2(TTN):c.100181G>A (p.Gly33394Asp)
NM_001267550.2(TTN):c.100244C>T (p.Pro33415Leu) rs72648282
NM_001267550.2(TTN):c.100310A>G (p.Asn33437Ser)
NM_001267550.2(TTN):c.100346A>C (p.Glu33449Ala)
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.100423G>A (p.Glu33475Lys)
NM_001267550.2(TTN):c.100457C>T (p.Thr33486Ile)
NM_001267550.2(TTN):c.10045A>G (p.Thr3349Ala) rs777960129
NM_001267550.2(TTN):c.10048C>T (p.Pro3350Ser)
NM_001267550.2(TTN):c.100602A>C (p.Lys33534Asn) rs1553501442
NM_001267550.2(TTN):c.100982G>A (p.Arg33661Lys) rs201857158
NM_001267550.2(TTN):c.101117_101140del (p.Val33706_Pro33713del) rs886043352
NM_001267550.2(TTN):c.101143T>C (p.Ser33715Pro)
NM_001267550.2(TTN):c.101252A>G (p.Asn33751Ser)
NM_001267550.2(TTN):c.101303T>G (p.Phe33768Cys)
NM_001267550.2(TTN):c.101354A>G (p.Asp33785Gly)
NM_001267550.2(TTN):c.101423C>G (p.Ser33808Cys)
NM_001267550.2(TTN):c.101440del (p.Glu33814fs) rs1690880184
NM_001267550.2(TTN):c.101483G>A (p.Gly33828Asp)
NM_001267550.2(TTN):c.101567A>T (p.Asp33856Val) rs1690813389
NM_001267550.2(TTN):c.101609C>G (p.Ala33870Gly)
NM_001267550.2(TTN):c.101783A>G (p.Gln33928Arg)
NM_001267550.2(TTN):c.101809C>A (p.His33937Asn)
NM_001267550.2(TTN):c.101869A>C (p.Ile33957Leu)
NM_001267550.2(TTN):c.101920del (p.Leu33974fs) rs1690665406
NM_001267550.2(TTN):c.101929A>G (p.Thr33977Ala)
NM_001267550.2(TTN):c.102067A>G (p.Ile34023Val)
NM_001267550.2(TTN):c.102457G>A (p.Val34153Ile)
NM_001267550.2(TTN):c.102510G>C (p.Trp34170Cys) rs1559033550
NM_001267550.2(TTN):c.102550G>A (p.Glu34184Lys)
NM_001267550.2(TTN):c.102658T>G (p.Ser34220Ala)
NM_001267550.2(TTN):c.102795TAA[1] (p.Asn34266del) rs886044414
NM_001267550.2(TTN):c.102811G>A (p.Val34271Ile) rs794727542
NM_001267550.2(TTN):c.102841A>C (p.Ile34281Leu) rs758945559
NM_001267550.2(TTN):c.102845C>A (p.Thr34282Asn)
NM_001267550.2(TTN):c.103109C>A (p.Ala34370Glu) rs748511301
NM_001267550.2(TTN):c.103133A>C (p.Gln34378Pro) rs779618819
NM_001267550.2(TTN):c.103165A>G (p.Ile34389Val)
NM_001267550.2(TTN):c.103204C>T (p.Pro34402Ser) rs1361480669
NM_001267550.2(TTN):c.103271G>C (p.Arg34424Thr)
NM_001267550.2(TTN):c.103381C>G (p.Gln34461Glu)
NM_001267550.2(TTN):c.103591A>G (p.Lys34531Glu)
NM_001267550.2(TTN):c.103615C>A (p.Pro34539Thr)
NM_001267550.2(TTN):c.103659AGA[2] (p.Glu34555del) rs759860918
NM_001267550.2(TTN):c.103829G>T (p.Arg34610Leu)
NM_001267550.2(TTN):c.103931A>C (p.Tyr34644Ser)
NM_001267550.2(TTN):c.103938_103945delinsCTCTTGGG (p.Tyr34647_Arg34649delinsSerTrpGly) rs1689696229
NM_001267550.2(TTN):c.104024G>A (p.Arg34675Lys) rs765125364
NM_001267550.2(TTN):c.104104C>G (p.His34702Asp)
NM_001267550.2(TTN):c.104311G>A (p.Glu34771Lys) rs2154134190
NM_001267550.2(TTN):c.104414G>T (p.Arg34805Leu) rs115150240
NM_001267550.2(TTN):c.104505ACT[1] (p.Leu34837del)
NM_001267550.2(TTN):c.104798A>G (p.Gln34933Arg)
NM_001267550.2(TTN):c.104798A>T (p.Gln34933Leu)
NM_001267550.2(TTN):c.104837T>G (p.Leu34946Arg) rs1185207035
NM_001267550.2(TTN):c.104883T>G (p.Phe34961Leu) rs934181908
NM_001267550.2(TTN):c.104906C>G (p.Pro34969Arg) rs2154133728
NM_001267550.2(TTN):c.104986G>A (p.Val34996Ile)
NM_001267550.2(TTN):c.105122C>T (p.Ser35041Phe)
NM_001267550.2(TTN):c.105188C>T (p.Ala35063Val)
NM_001267550.2(TTN):c.105292C>T (p.His35098Tyr)
NM_001267550.2(TTN):c.105317G>A (p.Ser35106Asn) rs1575229486
NM_001267550.2(TTN):c.105380T>C (p.Leu35127Ser)
NM_001267550.2(TTN):c.105406C>G (p.Arg35136Gly) rs372875128
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.105545A>G (p.Tyr35182Cys) rs878913505
NM_001267550.2(TTN):c.105629AAG[1] (p.Glu35211del)
NM_001267550.2(TTN):c.105677A>C (p.Lys35226Thr) rs1553484919
NM_001267550.2(TTN):c.105967G>A (p.Gly35323Ser) rs372749780
NM_001267550.2(TTN):c.106108A>G (p.Thr35370Ala)
NM_001267550.2(TTN):c.106133C>T (p.Ala35378Val) rs555476312
NM_001267550.2(TTN):c.106367_106369dup (p.Asp35456_Gly35457insAsp)
NM_001267550.2(TTN):c.106461T>A (p.Ser35487Arg) rs886039020
NM_001267550.2(TTN):c.106531G>A (p.Ala35511Thr) rs768786354
NM_001267550.2(TTN):c.106575_106576insGTAATTTCT (p.Thr35525_Ser35526insValIleSer) rs768256269
NM_001267550.2(TTN):c.106583T>C (p.Ile35528Thr)
NM_001267550.2(TTN):c.106781C>T (p.Thr35594Ile)
NM_001267550.2(TTN):c.106795G>C (p.Ala35599Pro)
NM_001267550.2(TTN):c.107305A>C (p.Ser35769Arg)
NM_001267550.2(TTN):c.107438A>G (p.Gln35813Arg)
NM_001267550.2(TTN):c.107469G>A (p.Met35823Ile)
NM_001267550.2(TTN):c.1076_1080del (p.Met359fs)
NM_001267550.2(TTN):c.107747T>C (p.Val35916Ala) rs2154129959
NM_001267550.2(TTN):c.107782G>T (p.Val35928Leu)
NM_001267550.2(TTN):c.107797G>C (p.Gly35933Arg) rs1575170417
NM_001267550.2(TTN):c.107800G>A (p.Gly35934Arg) rs368277535
NM_001267550.2(TTN):c.1118_1121del (p.Glu373fs)
NM_001267550.2(TTN):c.11385T>G (p.Asn3795Lys) rs1553942530
NM_001267550.2(TTN):c.11512A>G (p.Thr3838Ala)
NM_001267550.2(TTN):c.11515C>G (p.Leu3839Val) rs1553942156
NM_001267550.2(TTN):c.11557T>C (p.Trp3853Arg) rs1553942094
NM_001267550.2(TTN):c.11584C>A (p.Pro3862Thr)
NM_001267550.2(TTN):c.11585C>G (p.Pro3862Arg)
NM_001267550.2(TTN):c.11615G>A (p.Gly3872Asp)
NM_001267550.2(TTN):c.11633T>A (p.Ile3878Asn)
NM_001267550.2(TTN):c.11639T>C (p.Leu3880Pro)
NM_001267550.2(TTN):c.11662G>A (p.Gly3888Arg)
NM_001267550.2(TTN):c.11692T>G (p.Tyr3898Asp) rs1553941743
NM_001267550.2(TTN):c.1176_1184dup (p.390GAA[3]) rs1574927808
NM_001267550.2(TTN):c.11836C>T (p.Pro3946Ser)
NM_001267550.2(TTN):c.1189A>G (p.Ser397Gly)
NM_001267550.2(TTN):c.11956A>G (p.Ile3986Val)
NM_001267550.2(TTN):c.11959A>G (p.Ile3987Val) rs551387805
NM_001267550.2(TTN):c.11977T>C (p.Ser3993Pro)
NM_001267550.2(TTN):c.12057_12080delinsATA (p.Ser4020_Leu4027delinsTyr)
NM_001267550.2(TTN):c.12142G>T (p.Ala4048Ser)
NM_001267550.2(TTN):c.12373C>T (p.Pro4125Ser)
NM_001267550.2(TTN):c.1245+4C>T
NM_001267550.2(TTN):c.1246-5T>C rs727503707
NM_001267550.2(TTN):c.12600G>C (p.Glu4200Asp)
NM_001267550.2(TTN):c.12860A>G (p.Tyr4287Cys)
NM_001267550.2(TTN):c.1290TGC[1] (p.Ala432del)
NM_001267550.2(TTN):c.1313T>A (p.Val438Glu)
NM_001267550.2(TTN):c.13194A>C (p.Gln4398His) rs375347596
NM_001267550.2(TTN):c.1324G>T (p.Val442Leu)
NM_001267550.2(TTN):c.13280T>C (p.Val4427Ala)
NM_001267550.2(TTN):c.13294A>G (p.Ile4432Val)
NM_001267550.2(TTN):c.13342G>A (p.Ala4448Thr)
NM_001267550.2(TTN):c.13487A>G (p.Gln4496Arg) rs878854287
NM_001267550.2(TTN):c.13522G>T (p.Asp4508Tyr)
NM_001267550.2(TTN):c.13629_13663delinsCACCCTTT (p.Arg4543_Gly4555delinsSerThrLeuTrp)
NM_001267550.2(TTN):c.13643A>G (p.Asp4548Gly)
NM_001267550.2(TTN):c.1364C>G (p.Thr455Arg)
NM_001267550.2(TTN):c.1364C>T (p.Thr455Met) rs368121196
NM_001267550.2(TTN):c.13751G>A (p.Gly4584Asp)
NM_001267550.2(TTN):c.13811A>G (p.Asp4604Gly)
NM_001267550.2(TTN):c.13877C>T (p.Thr4626Ile)
NM_001267550.2(TTN):c.1393G>T (p.Glu465Ter) rs1313233245
NM_001267550.2(TTN):c.1397A>G (p.Gln466Arg)
NM_001267550.2(TTN):c.1399-5A>G
NM_001267550.2(TTN):c.1412C>T (p.Ala471Val)
NM_001267550.2(TTN):c.14140G>A (p.Gly4714Ser)
NM_001267550.2(TTN):c.14188C>T (p.Arg4730Trp)
NM_001267550.2(TTN):c.14209G>T (p.Gly4737Cys)
NM_001267550.2(TTN):c.14304C>T (p.Gly4768=)
NM_001267550.2(TTN):c.14341G>A (p.Val4781Ile)
NM_001267550.2(TTN):c.14701A>G (p.Ile4901Val) rs886038840
NM_001267550.2(TTN):c.1494_1496del (p.Ile499del) rs750748086
NM_001267550.2(TTN):c.1566A>C (p.Val522=)
NM_001267550.2(TTN):c.1576G>C (p.Val526Leu)
NM_001267550.2(TTN):c.159C>T (p.Gly53=) rs1367693905
NM_001267550.2(TTN):c.1613G>A (p.Arg538Lys)
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg) rs191057824
NM_001267550.2(TTN):c.1819A>G (p.Lys607Glu)
NM_001267550.2(TTN):c.1828G>C (p.Val610Leu) rs397517499
NM_001267550.2(TTN):c.1895del (p.Gly632fs)
NM_001267550.2(TTN):c.1913A>T (p.Glu638Val)
NM_001267550.2(TTN):c.1933_1935del (p.Glu645del) rs774138200
NM_001267550.2(TTN):c.1938+3G>T
NM_001267550.2(TTN):c.1940T>C (p.Met647Thr)
NM_001267550.2(TTN):c.1964C>A (p.Ala655Asp) rs763912778
NM_001267550.2(TTN):c.2021G>A (p.Arg674Lys)
NM_001267550.2(TTN):c.2042C>T (p.Thr681Ile)
NM_001267550.2(TTN):c.20605G>C (p.Glu6869Gln) rs746830456
NM_001267550.2(TTN):c.2114TTG[3] (p.Val706_Ala707insVal)
NM_001267550.2(TTN):c.2123C>T (p.Ala708Val)
NM_001267550.2(TTN):c.21291T>A (p.Asn7097Lys) rs773211607
NM_001267550.2(TTN):c.2137C>T (p.Arg713Ter) rs727505277
NM_001267550.2(TTN):c.2200G>A (p.Glu734Lys)
NM_001267550.2(TTN):c.2248C>T (p.Pro750Ser)
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) rs727503701
NM_001267550.2(TTN):c.229C>T (p.Arg77Ter)
NM_001267550.2(TTN):c.23023G>T (p.Asp7675Tyr) rs552951988
NM_001267550.2(TTN):c.2393_2394del (p.Thr798fs) rs1060500528
NM_001267550.2(TTN):c.2440C>T (p.Pro814Ser)
NM_001267550.2(TTN):c.24590C>T (p.Thr8197Ile) rs748587371
NM_001267550.2(TTN):c.2474A>G (p.Lys825Arg)
NM_001267550.2(TTN):c.2584C>T (p.Pro862Ser)
NM_001267550.2(TTN):c.2601T>A (p.Ser867Arg) rs751040739
NM_001267550.2(TTN):c.2639A>G (p.Gln880Arg)
NM_001267550.2(TTN):c.2644C>G (p.Pro882Ala)
NM_001267550.2(TTN):c.2681C>G (p.Ala894Gly)
NM_001267550.2(TTN):c.26861C>A (p.Pro8954Gln) rs752903252
NM_001267550.2(TTN):c.2696A>G (p.Lys899Arg)
NM_001267550.2(TTN):c.2744G>A (p.Arg915His) rs376922544
NM_001267550.2(TTN):c.2744G>C (p.Arg915Pro) rs376922544
NM_001267550.2(TTN):c.2775+5G>A
NM_001267550.2(TTN):c.2780C>T (p.Thr927Ile) rs1470055509
NM_001267550.2(TTN):c.2841G>T (p.Ser947=) rs774074192
NM_001267550.2(TTN):c.3004A>C (p.Ile1002Leu)
NM_001267550.2(TTN):c.3007C>T (p.Arg1003Cys)
NM_001267550.2(TTN):c.3034C>T (p.Arg1012Ter) rs397517547
NM_001267550.2(TTN):c.3047_3055dup (p.Val1018_Asn1019insSerAlaVal)
NM_001267550.2(TTN):c.306ACC[1] (p.Pro104del)
NM_001267550.2(TTN):c.3101-3T>A
NM_001267550.2(TTN):c.3130G>T (p.Ala1044Ser)
NM_001267550.2(TTN):c.3217C>T (p.Gln1073Ter)
NM_001267550.2(TTN):c.3241G>A (p.Ala1081Thr) rs55914517
NM_001267550.2(TTN):c.3370A>G (p.Thr1124Ala)
NM_001267550.2(TTN):c.3380+4T>G
NM_001267550.2(TTN):c.3415T>C (p.Cys1139Arg) rs1554015395
NM_001267550.2(TTN):c.3469GTT[1] (p.Val1158del)
NM_001267550.2(TTN):c.3488G>A (p.Gly1163Glu)
NM_001267550.2(TTN):c.3637G>C (p.Glu1213Gln) rs1043395012
NM_001267550.2(TTN):c.3639GTATGAAAAAGA[1] (p.1214YEKE[1]) rs762637057
NM_001267550.2(TTN):c.3730-5C>T rs1574709001
NM_001267550.2(TTN):c.390C>G (p.Ile130Met)
NM_001267550.2(TTN):c.3968C>T (p.Ala1323Val) rs774954394
NM_001267550.2(TTN):c.4008del (p.Arg1336fs)
NM_001267550.2(TTN):c.4027C>T (p.Gln1343Ter) rs727503697
NM_001267550.2(TTN):c.40558+1G>T rs368219776
NM_001267550.2(TTN):c.40558+5A>C
NM_001267550.2(TTN):c.40559-3A>C
NM_001267550.2(TTN):c.40566A>T (p.Arg13522Ser)
NM_001267550.2(TTN):c.40576GAA[5] (p.Glu13529_Pro13530insGlu)
NM_001267550.2(TTN):c.40634-5T>C rs904821775
NM_001267550.2(TTN):c.40666G>A (p.Glu13556Lys) rs781066709
NM_001267550.2(TTN):c.40723+1del rs876658058
NM_001267550.2(TTN):c.40739C>T (p.Pro13580Leu)
NM_001267550.2(TTN):c.40866A>T (p.Gly13622=)
NM_001267550.2(TTN):c.40915G>T (p.Gly13639Cys)
NM_001267550.2(TTN):c.4092_4097del (p.Phe1365_Ala1366del)
NM_001267550.2(TTN):c.40951C>A (p.Pro13651Thr)
NM_001267550.2(TTN):c.40963G>A (p.Glu13655Lys) rs727504198
NM_001267550.2(TTN):c.41032C>A (p.Leu13678Ile)
NM_001267550.2(TTN):c.41306C>T (p.Ser13769Phe)
NM_001267550.2(TTN):c.41329+2T>G rs1553747489
NM_001267550.2(TTN):c.41341C>A (p.Arg13781Ser)
NM_001267550.2(TTN):c.41363_41368del (p.Glu13788_Glu13789del)
NM_001267550.2(TTN):c.41414A>G (p.Asn13805Ser) rs1553747056
NM_001267550.2(TTN):c.41438G>A (p.Arg13813Lys)
NM_001267550.2(TTN):c.41561T>C (p.Val13854Ala)
NM_001267550.2(TTN):c.41851G>A (p.Gly13951Arg)
NM_001267550.2(TTN):c.41884+4T>C
NM_001267550.2(TTN):c.41884+5A>C
NM_001267550.2(TTN):c.41924C>T (p.Thr13975Ile)
NM_001267550.2(TTN):c.41936A>G (p.Lys13979Arg)
NM_001267550.2(TTN):c.4220C>A (p.Pro1407Gln)
NM_001267550.2(TTN):c.42236G>A (p.Arg14079Gln)
NM_001267550.2(TTN):c.42386A>C (p.Lys14129Thr)
NM_001267550.2(TTN):c.42496T>A (p.Ser14166Thr)
NM_001267550.2(TTN):c.4276_4290del (p.1420ARMSP[3])
NM_001267550.2(TTN):c.42855C>G (p.Ile14285Met)
NM_001267550.2(TTN):c.42950G>A (p.Arg14317Gln) rs727505144
NM_001267550.2(TTN):c.43025T>C (p.Leu14342Pro)
NM_001267550.2(TTN):c.43078G>A (p.Ala14360Thr)
NM_001267550.2(TTN):c.43079C>A (p.Ala14360Asp)
NM_001267550.2(TTN):c.43206A>G (p.Lys14402=)
NM_001267550.2(TTN):c.43213+4T>C
NM_001267550.2(TTN):c.43214-4T>C
NM_001267550.2(TTN):c.43214-5T>A
NM_001267550.2(TTN):c.43227C>G (p.Ile14409Met)
NM_001267550.2(TTN):c.43230C>A (p.Phe14410Leu)
NM_001267550.2(TTN):c.43261G>A (p.Glu14421Lys)
NM_001267550.2(TTN):c.43268A>G (p.Asp14423Gly)
NM_001267550.2(TTN):c.4330G>T (p.Glu1444Ter)
NM_001267550.2(TTN):c.43333C>G (p.Gln14445Glu)
NM_001267550.2(TTN):c.43374T>A (p.Asp14458Glu)
NM_001267550.2(TTN):c.43408G>C (p.Ala14470Pro)
NM_001267550.2(TTN):c.43469T>A (p.Leu14490Gln)
NM_001267550.2(TTN):c.43480+2T>C
NM_001267550.2(TTN):c.43502C>T (p.Thr14501Ile)
NM_001267550.2(TTN):c.43564C>G (p.His14522Asp)
NM_001267550.2(TTN):c.43646A>C (p.Lys14549Thr)
NM_001267550.2(TTN):c.43694A>C (p.Gln14565Pro)
NM_001267550.2(TTN):c.43696A>C (p.Ile14566Leu)
NM_001267550.2(TTN):c.43747+5G>C rs878854308
NM_001267550.2(TTN):c.43749G>A (p.Glu14583=)
NM_001267550.2(TTN):c.43895TTA[1] (p.Ile14633del)
NM_001267550.2(TTN):c.43948T>C (p.Ser14650Pro)
NM_001267550.2(TTN):c.44017C>A (p.Arg14673=)
NM_001267550.2(TTN):c.44018G>A (p.Arg14673Gln)
NM_001267550.2(TTN):c.44060T>C (p.Met14687Thr)
NM_001267550.2(TTN):c.44137G>T (p.Ala14713Ser) rs1476356250
NM_001267550.2(TTN):c.44154+2T>C
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu) rs373298007
NM_001267550.2(TTN):c.44275G>T (p.Val14759Phe)
NM_001267550.2(TTN):c.44281+5G>A rs2059634223
NM_001267550.2(TTN):c.44300T>C (p.Leu14767Pro)
NM_001267550.2(TTN):c.44375T>A (p.Ile14792Asn) rs747654057
NM_001267550.2(TTN):c.44465T>G (p.Leu14822Arg)
NM_001267550.2(TTN):c.44478G>C (p.Lys14826Asn)
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del) rs727505315
NM_001267550.2(TTN):c.4451C>T (p.Pro1484Leu)
NM_001267550.2(TTN):c.44531C>G (p.Ala14844Gly) rs1053826157
NM_001267550.2(TTN):c.44548+4A>G
NM_001267550.2(TTN):c.44573C>G (p.Pro14858Arg)
NM_001267550.2(TTN):c.44688G>T (p.Lys14896Asn)
NM_001267550.2(TTN):c.44736T>A (p.His14912Gln) rs762830792
NM_001267550.2(TTN):c.44744C>T (p.Thr14915Ile)
NM_001267550.2(TTN):c.4475A>T (p.His1492Leu)
NM_001267550.2(TTN):c.44791A>G (p.Thr14931Ala)
NM_001267550.2(TTN):c.44792C>G (p.Thr14931Ser)
NM_001267550.2(TTN):c.44816-3del
NM_001267550.2(TTN):c.44816_44818CTC[1] (p.Pro14940del)
NM_001267550.2(TTN):c.44824G>A (p.Val14942Met) rs786205391
NM_001267550.2(TTN):c.44840C>A (p.Pro14947Gln)
NM_001267550.2(TTN):c.44879G>A (p.Arg14960Gln)
NM_001267550.2(TTN):c.44914-3T>C
NM_001267550.2(TTN):c.44963A>T (p.Asp14988Val)
NM_001267550.2(TTN):c.45053C>A (p.Ala15018Glu) rs72677221
NM_001267550.2(TTN):c.45089A>C (p.Glu15030Ala)
NM_001267550.2(TTN):c.45197G>A (p.Gly15066Glu)
NM_001267550.2(TTN):c.45305G>C (p.Cys15102Ser)
NM_001267550.2(TTN):c.4535C>T (p.Thr1512Ile)
NM_001267550.2(TTN):c.45448G>A (p.Val15150Ile)
NM_001267550.2(TTN):c.4547T>C (p.Ile1516Thr)
NM_001267550.2(TTN):c.454A>G (p.Ile152Val) rs786205406
NM_001267550.2(TTN):c.45510_45519delinsC (p.Gly15171_Lys15173del) rs1553717747
NM_001267550.2(TTN):c.45521G>A (p.Arg15174Lys)
NM_001267550.2(TTN):c.45617-5T>C
NM_001267550.2(TTN):c.4561A>C (p.Thr1521Pro) rs1574674545
NM_001267550.2(TTN):c.45848A>G (p.Asn15283Ser)
NM_001267550.2(TTN):c.45887TAG[1] (p.Val15297del)
NM_001267550.2(TTN):c.4592_4596del (p.Val1531fs) rs1131691910
NM_001267550.2(TTN):c.45986A>G (p.Asn15329Ser) rs371734564
NM_001267550.2(TTN):c.4598A>G (p.Gln1533Arg)
NM_001267550.2(TTN):c.46061A>G (p.Tyr15354Cys) rs886038861
NM_001267550.2(TTN):c.46078_46092del (p.Ile15360_Gly15364del) rs727505075
NM_001267550.2(TTN):c.46166C>T (p.Ala15389Val)
NM_001267550.2(TTN):c.46225G>A (p.Val15409Ile)
NM_001267550.2(TTN):c.46232_46234del (p.Ser15411del)
NM_001267550.2(TTN):c.46304+3A>G
NM_001267550.2(TTN):c.46365TGA[1] (p.Asp15456del)
NM_001267550.2(TTN):c.46365TGA[3] (p.Asp15456_Glu15457insAsp)
NM_001267550.2(TTN):c.4642G>T (p.Glu1548Ter)
NM_001267550.2(TTN):c.4646-5T>A rs750400475
NM_001267550.2(TTN):c.46565G>T (p.Gly15522Val) rs1246339782
NM_001267550.2(TTN):c.46966G>A (p.Asp15656Asn) rs727504572
NM_001267550.2(TTN):c.46985G>A (p.Arg15662His)
NM_001267550.2(TTN):c.47060G>A (p.Ser15687Asn)
NM_001267550.2(TTN):c.47145G>C (p.Glu15715Asp)
NM_001267550.2(TTN):c.4714C>T (p.Arg1572Ter) rs1554008881
NM_001267550.2(TTN):c.47230G>A (p.Val15744Ile)
NM_001267550.2(TTN):c.47233G>A (p.Glu15745Lys)
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47308G>A (p.Val15770Met)
NM_001267550.2(TTN):c.4741G>A (p.Gly1581Ser)
NM_001267550.2(TTN):c.47443G>A (p.Asp15815Asn)
NM_001267550.2(TTN):c.4749_4754del (p.1582NP[1]) rs1242020329
NM_001267550.2(TTN):c.47574G>C (p.Glu15858Asp)
NM_001267550.2(TTN):c.47765C>T (p.Thr15922Ile)
NM_001267550.2(TTN):c.47848G>A (p.Gly15950Ser)
NM_001267550.2(TTN):c.47875+4_47875+7del rs753206674
NM_001267550.2(TTN):c.47917G>A (p.Glu15973Lys)
NM_001267550.2(TTN):c.4821A>C (p.Glu1607Asp)
NM_001267550.2(TTN):c.48245A>G (p.Asp16082Gly)
NM_001267550.2(TTN):c.48286G>A (p.Glu16096Lys)
NM_001267550.2(TTN):c.48295C>T (p.Arg16099Trp)
NM_001267550.2(TTN):c.482T>C (p.Leu161Ser)
NM_001267550.2(TTN):c.48326_48331del (p.Val16109_Thr16110del)
NM_001267550.2(TTN):c.4852G>T (p.Asp1618Tyr) rs794727465
NM_001267550.2(TTN):c.48557G>T (p.Arg16186Leu) rs769784536
NM_001267550.2(TTN):c.48638+5G>T rs397517594
NM_001267550.2(TTN):c.48638+5del rs2057135287
NM_001267550.2(TTN):c.48671G>C (p.Trp16224Ser) rs886055270
NM_001267550.2(TTN):c.48727C>G (p.Pro16243Ala) rs72677242
NM_001267550.2(TTN):c.48728C>T (p.Pro16243Leu)
NM_001267550.2(TTN):c.48742C>A (p.Gln16248Lys)
NM_001267550.2(TTN):c.48850G>A (p.Gly16284Arg) rs368527534
NM_001267550.2(TTN):c.48991_48993del (p.Ile16331del) rs886039052
NM_001267550.2(TTN):c.49102T>C (p.Cys16368Arg)
NM_001267550.2(TTN):c.49127G>A (p.Arg16376His) rs746306518
NM_001267550.2(TTN):c.49205C>T (p.Ser16402Leu)
NM_001267550.2(TTN):c.4921A>G (p.Thr1641Ala)
NM_001267550.2(TTN):c.49300G>C (p.Gly16434Arg)
NM_001267550.2(TTN):c.49358C>T (p.Pro16453Leu)
NM_001267550.2(TTN):c.49567T>C (p.Phe16523Leu) rs1553700258
NM_001267550.2(TTN):c.49649A>T (p.Asp16550Val)
NM_001267550.2(TTN):c.49663C>A (p.Pro16555Thr)
NM_001267550.2(TTN):c.4967C>T (p.Pro1656Leu)
NM_001267550.2(TTN):c.49739G>A (p.Gly16580Asp)
NM_001267550.2(TTN):c.49852G>A (p.Gly16618Arg)
NM_001267550.2(TTN):c.49889A>C (p.Lys16630Thr)
NM_001267550.2(TTN):c.49905ACCCAGTGA[1] (p.16635EPS[1]) rs942590648
NM_001267550.2(TTN):c.49914A>T (p.Glu16638Asp)
NM_001267550.2(TTN):c.49949-1G>T
NM_001267550.2(TTN):c.4994G>T (p.Gly1665Val)
NM_001267550.2(TTN):c.49967G>A (p.Arg16656His)
NM_001267550.2(TTN):c.50023C>A (p.Pro16675Thr)
NM_001267550.2(TTN):c.50039G>T (p.Gly16680Val) rs886038912
NM_001267550.2(TTN):c.50096A>G (p.Gln16699Arg)
NM_001267550.2(TTN):c.5009A>G (p.Lys1670Arg)
NM_001267550.2(TTN):c.50189C>T (p.Ala16730Val) rs763483590
NM_001267550.2(TTN):c.50215A>G (p.Ile16739Val) rs1553698265
NM_001267550.2(TTN):c.50230C>G (p.Leu16744Val) rs1553698214
NM_001267550.2(TTN):c.50389C>T (p.Arg16797Cys)
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter) rs587780490
NM_001267550.2(TTN):c.50552-1G>A
NM_001267550.2(TTN):c.50701A>G (p.Arg16901Gly)
NM_001267550.2(TTN):c.50713C>T (p.Arg16905Cys) rs267599049
NM_001267550.2(TTN):c.50717C>A (p.Pro16906Gln)
NM_001267550.2(TTN):c.50721_50723dup (p.Lys16908_Asp16909insLys)
NM_001267550.2(TTN):c.50891T>C (p.Ile16964Thr) rs794729453
NM_001267550.2(TTN):c.50899A>G (p.Ile16967Val)
NM_001267550.2(TTN):c.50995_50997dup (p.Asp16999_Arg17000insAsp)
NM_001267550.2(TTN):c.51063T>A (p.Asp17021Glu)
NM_001267550.2(TTN):c.51257G>A (p.Arg17086His)
NM_001267550.2(TTN):c.51334A>G (p.Ile17112Val)
NM_001267550.2(TTN):c.51382G>A (p.Gly17128Ser)
NM_001267550.2(TTN):c.51411T>G (p.Asn17137Lys)
NM_001267550.2(TTN):c.51416T>A (p.Val17139Asp)
NM_001267550.2(TTN):c.51460G>A (p.Val17154Ile)
NM_001267550.2(TTN):c.51540G>A (p.Met17180Ile) rs879015830
NM_001267550.2(TTN):c.51632G>A (p.Gly17211Glu)
NM_001267550.2(TTN):c.51682G>A (p.Ala17228Thr)
NM_001267550.2(TTN):c.51707C>T (p.Ala17236Val) rs1041202552
NM_001267550.2(TTN):c.51711TCC[1] (p.Pro17239del) rs776868393
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.5201T>C (p.Met1734Thr)
NM_001267550.2(TTN):c.52031A>G (p.His17344Arg)
NM_001267550.2(TTN):c.52065C>T (p.His17355=)
NM_001267550.2(TTN):c.52103-3T>G
NM_001267550.2(TTN):c.52259T>C (p.Val17420Ala)
NM_001267550.2(TTN):c.52460T>C (p.Met17487Thr)
NM_001267550.2(TTN):c.52607_52609del (p.Glu17536del) rs755947249
NM_001267550.2(TTN):c.52629A>G (p.Arg17543=) rs748001472
NM_001267550.2(TTN):c.5268del (p.Glu1756fs)
NM_001267550.2(TTN):c.52693C>G (p.His17565Asp) rs370126872
NM_001267550.2(TTN):c.526G>C (p.Val176Leu)
NM_001267550.2(TTN):c.52798G>A (p.Glu17600Lys)
NM_001267550.2(TTN):c.52928G>T (p.Arg17643Leu)
NM_001267550.2(TTN):c.52945G>A (p.Ala17649Thr)
NM_001267550.2(TTN):c.53080G>C (p.Ala17694Pro) rs727503611
NM_001267550.2(TTN):c.53096G>C (p.Arg17699Pro) rs72646808
NM_001267550.2(TTN):c.53287+3A>G rs886043039
NM_001267550.2(TTN):c.53290G>A (p.Val17764Ile) rs886039115
NM_001267550.2(TTN):c.53536G>T (p.Gly17846Cys)
NM_001267550.2(TTN):c.53546T>C (p.Val17849Ala)
NM_001267550.2(TTN):c.53551A>G (p.Ile17851Val)
NM_001267550.2(TTN):c.53669G>A (p.Gly17890Asp)
NM_001267550.2(TTN):c.53831G>A (p.Gly17944Asp)
NM_001267550.2(TTN):c.53881+3_53881+4delinsAA
NM_001267550.2(TTN):c.53881+5G>T rs753527304
NM_001267550.2(TTN):c.53903G>C (p.Arg17968Pro) rs200100660
NM_001267550.2(TTN):c.5395dup (p.Ser1799fs) rs1064796474
NM_001267550.2(TTN):c.5404dup (p.Glu1802fs)
NM_001267550.2(TTN):c.54070A>C (p.Ser18024Arg)
NM_001267550.2(TTN):c.54167G>T (p.Arg18056Leu)
NM_001267550.2(TTN):c.54230T>C (p.Ile18077Thr)
NM_001267550.2(TTN):c.54467A>G (p.Asp18156Gly)
NM_001267550.2(TTN):c.54559T>G (p.Trp18187Gly)
NM_001267550.2(TTN):c.54589C>G (p.Pro18197Ala)
NM_001267550.2(TTN):c.5460_5466delinsAGT (p.Arg1821fs) rs1554007128
NM_001267550.2(TTN):c.54656C>T (p.Ala18219Val)
NM_001267550.2(TTN):c.54674G>T (p.Gly18225Val) rs886038866
NM_001267550.2(TTN):c.54790G>A (p.Glu18264Lys)
NM_001267550.2(TTN):c.54812-5A>C
NM_001267550.2(TTN):c.54932T>C (p.Met18311Thr) rs1553676016
NM_001267550.2(TTN):c.54974C>G (p.Pro18325Arg)
NM_001267550.2(TTN):c.54993_55007delinsTAATCTGAAAGA (p.Cys18332_Val18336delinsAsnLeuLysGlu)
NM_001267550.2(TTN):c.55121-5T>C
NM_001267550.2(TTN):c.5513del (p.Lys1838fs) rs1554007001
NM_001267550.2(TTN):c.55222C>T (p.Pro18408Ser)
NM_001267550.2(TTN):c.55243G>A (p.Asp18415Asn)
NM_001267550.2(TTN):c.55288C>T (p.Pro18430Ser)
NM_001267550.2(TTN):c.5534T>A (p.Leu1845Ter)
NM_001267550.2(TTN):c.55487G>A (p.Cys18496Tyr)
NM_001267550.2(TTN):c.55664C>T (p.Ala18555Val)
NM_001267550.2(TTN):c.556A>T (p.Thr186Ser)
NM_001267550.2(TTN):c.55757T>C (p.Leu18586Pro)
NM_001267550.2(TTN):c.55916T>C (p.Val18639Ala)
NM_001267550.2(TTN):c.55964A>G (p.Tyr18655Cys)
NM_001267550.2(TTN):c.55991C>T (p.Ala18664Val)
NM_001267550.2(TTN):c.56120A>G (p.Lys18707Arg)
NM_001267550.2(TTN):c.56225T>A (p.Val18742Glu)
NM_001267550.2(TTN):c.56288C>T (p.Thr18763Ile)
NM_001267550.2(TTN):c.56311G>A (p.Gly18771Arg)
NM_001267550.2(TTN):c.56465T>C (p.Ile18822Thr)
NM_001267550.2(TTN):c.56675C>A (p.Thr18892Lys)
NM_001267550.2(TTN):c.5669G>A (p.Arg1890His)
NM_001267550.2(TTN):c.56738G>A (p.Gly18913Asp)
NM_001267550.2(TTN):c.56748G>C (p.Val18916=)
NM_001267550.2(TTN):c.5674del (p.Asp1892fs) rs2154346038
NM_001267550.2(TTN):c.56755T>C (p.Tyr18919His)
NM_001267550.2(TTN):c.56879A>G (p.Gln18960Arg)
NM_001267550.2(TTN):c.57052T>G (p.Ser19018Ala)
NM_001267550.2(TTN):c.57074T>C (p.Val19025Ala)
NM_001267550.2(TTN):c.57083AAG[2] (p.Glu19030del) rs749887998
NM_001267550.2(TTN):c.57111+3A>G rs374844230
NM_001267550.2(TTN):c.57263-2A>G
NM_001267550.2(TTN):c.57311T>C (p.Val19104Ala)
NM_001267550.2(TTN):c.5762T>C (p.Ile1921Thr) rs786205318
NM_001267550.2(TTN):c.57697C>T (p.Pro19233Ser)
NM_001267550.2(TTN):c.57773T>C (p.Ile19258Thr)
NM_001267550.2(TTN):c.5779C>T (p.Leu1927Phe) rs1370515925
NM_001267550.2(TTN):c.57824C>T (p.Ala19275Val)
NM_001267550.2(TTN):c.57829G>T (p.Val19277Phe)
NM_001267550.2(TTN):c.57844A>G (p.Ile19282Val) rs779849364
NM_001267550.2(TTN):c.57847+1G>A rs397517631
NM_001267550.2(TTN):c.57847+5_57847+8del rs587782988
NM_001267550.2(TTN):c.57923C>T (p.Pro19308Leu)
NM_001267550.2(TTN):c.58037T>C (p.Val19346Ala) rs754793079
NM_001267550.2(TTN):c.58192A>G (p.Ile19398Val)
NM_001267550.2(TTN):c.58274C>T (p.Ala19425Val)
NM_001267550.2(TTN):c.58328C>G (p.Ala19443Gly) rs1360001030
NM_001267550.2(TTN):c.58444C>G (p.Pro19482Ala)
NM_001267550.2(TTN):c.58456C>G (p.Pro19486Ala)
NM_001267550.2(TTN):c.58499C>T (p.Ser19500Phe)
NM_001267550.2(TTN):c.58564G>A (p.Val19522Met)
NM_001267550.2(TTN):c.58585C>A (p.Pro19529Thr)
NM_001267550.2(TTN):c.58624T>C (p.Ser19542Pro)
NM_001267550.2(TTN):c.58684A>G (p.Ile19562Val) rs397517637
NM_001267550.2(TTN):c.58759A>G (p.Ile19587Val) rs916546048
NM_001267550.2(TTN):c.58783T>A (p.Ser19595Thr)
NM_001267550.2(TTN):c.59036-3T>C
NM_001267550.2(TTN):c.59189C>T (p.Ala19730Val)
NM_001267550.2(TTN):c.59213C>T (p.Pro19738Leu)
NM_001267550.2(TTN):c.59242C>T (p.Arg19748Trp)
NM_001267550.2(TTN):c.59369C>G (p.Ala19790Gly)
NM_001267550.2(TTN):c.59504T>G (p.Val19835Gly) rs727504511
NM_001267550.2(TTN):c.5951G>T (p.Arg1984Ile)
NM_001267550.2(TTN):c.59536A>C (p.Asn19846His)
NM_001267550.2(TTN):c.59570T>C (p.Leu19857Ser) rs547180437
NM_001267550.2(TTN):c.59662G>A (p.Glu19888Lys)
NM_001267550.2(TTN):c.59684A>G (p.Tyr19895Cys)
NM_001267550.2(TTN):c.59719_59720insATT (p.Gly19906_Ser19907insTyr)
NM_001267550.2(TTN):c.59740G>A (p.Val19914Ile)
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.5993G>T (p.Arg1998Leu) rs144135510
NM_001267550.2(TTN):c.59965G>A (p.Val19989Ile) rs1021499065
NM_001267550.2(TTN):c.60007C>G (p.Arg20003Gly) rs1039014549
NM_001267550.2(TTN):c.60086C>A (p.Thr20029Asn)
NM_001267550.2(TTN):c.60163A>G (p.Ile20055Val)
NM_001267550.2(TTN):c.60202G>C (p.Glu20068Gln)
NM_001267550.2(TTN):c.6029A>G (p.Tyr2010Cys) rs397517672
NM_001267550.2(TTN):c.60343G>C (p.Asp20115His)
NM_001267550.2(TTN):c.6034G>A (p.Ala2012Thr)
NM_001267550.2(TTN):c.60472G>T (p.Gly20158Cys)
NM_001267550.2(TTN):c.60484G>A (p.Val20162Ile)
NM_001267550.2(TTN):c.60550G>A (p.Val20184Ile)
NM_001267550.2(TTN):c.60613A>G (p.Ile20205Val)
NM_001267550.2(TTN):c.6062G>T (p.Arg2021Leu)
NM_001267550.2(TTN):c.60755T>G (p.Ile20252Arg)
NM_001267550.2(TTN):c.60812C>G (p.Pro20271Arg)
NM_001267550.2(TTN):c.60814C>T (p.Pro20272Ser)
NM_001267550.2(TTN):c.61007A>G (p.Tyr20336Cys)
NM_001267550.2(TTN):c.61024G>A (p.Glu20342Lys)
NM_001267550.2(TTN):c.61040C>A (p.Ala20347Asp)
NM_001267550.2(TTN):c.61066C>T (p.Pro20356Ser)
NM_001267550.2(TTN):c.61142A>G (p.Lys20381Arg) rs886039098
NM_001267550.2(TTN):c.61244_61245delinsAG (p.Thr20415Lys)
NM_001267550.2(TTN):c.61336C>T (p.Arg20446Cys)
NM_001267550.2(TTN):c.61370A>C (p.Glu20457Ala) rs541930965
NM_001267550.2(TTN):c.61640A>C (p.Tyr20547Ser)
NM_001267550.2(TTN):c.61670A>G (p.His20557Arg) rs1472565206
NM_001267550.2(TTN):c.61717T>C (p.Cys20573Arg) rs780691741
NM_001267550.2(TTN):c.6172A>G (p.Lys2058Glu) rs786205405
NM_001267550.2(TTN):c.6181A>T (p.Ile2061Phe)
NM_001267550.2(TTN):c.61955C>G (p.Pro20652Arg)
NM_001267550.2(TTN):c.61958C>T (p.Thr20653Ile) rs1553641323
NM_001267550.2(TTN):c.61967C>T (p.Thr20656Ile) rs1363633199
NM_001267550.2(TTN):c.62068C>T (p.Arg20690Trp)
NM_001267550.2(TTN):c.62284G>C (p.Val20762Leu)
NM_001267550.2(TTN):c.62301A>C (p.Gln20767His)
NM_001267550.2(TTN):c.62332G>T (p.Val20778Phe)
NM_001267550.2(TTN):c.62411C>A (p.Thr20804Asn) rs1218971734
NM_001267550.2(TTN):c.6248G>T (p.Arg2083Ile)
NM_001267550.2(TTN):c.62566T>C (p.Tyr20856His)
NM_001267550.2(TTN):c.62569G>A (p.Ala20857Thr)
NM_001267550.2(TTN):c.62681G>A (p.Cys20894Tyr) rs370080086
NM_001267550.2(TTN):c.62801A>G (p.Tyr20934Cys)
NM_001267550.2(TTN):c.62861C>A (p.Pro20954Gln)
NM_001267550.2(TTN):c.62867T>C (p.Ile20956Thr)
NM_001267550.2(TTN):c.6292C>T (p.Arg2098Trp) rs763722868
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del) rs727505236
NM_001267550.2(TTN):c.62936A>C (p.Glu20979Ala) rs375728230
NM_001267550.2(TTN):c.62979G>C (p.Lys20993Asn)
NM_001267550.2(TTN):c.6301G>A (p.Val2101Ile)
NM_001267550.2(TTN):c.63069G>C (p.Met21023Ile) rs1060500596
NM_001267550.2(TTN):c.63187+5G>A rs1292388582
NM_001267550.2(TTN):c.63272_63298dup (p.Asp21091_Tyr21099dup) rs750904641
NM_001267550.2(TTN):c.63304G>A (p.Glu21102Lys)
NM_001267550.2(TTN):c.63323C>T (p.Ala21108Val) rs769906829
NM_001267550.2(TTN):c.63329C>T (p.Ala21110Val) rs370687831
NM_001267550.2(TTN):c.63335C>T (p.Pro21112Leu)
NM_001267550.2(TTN):c.63373C>T (p.Leu21125Phe)
NM_001267550.2(TTN):c.6341A>G (p.Asn2114Ser)
NM_001267550.2(TTN):c.63528_63530delinsTGG (p.Leu21176_Asp21177delinsPheGly)
NM_001267550.2(TTN):c.63665T>G (p.Val21222Gly)
NM_001267550.2(TTN):c.6368G>A (p.Arg2123Gln) rs530807674
NM_001267550.2(TTN):c.63712C>T (p.Arg21238Cys)
NM_001267550.2(TTN):c.63770T>C (p.Val21257Ala) rs1553637142
NM_001267550.2(TTN):c.6381C>G (p.Tyr2127Ter) rs2092121151
NM_001267550.2(TTN):c.63934A>C (p.Thr21312Pro)
NM_001267550.2(TTN):c.63944C>A (p.Thr21315Asn)
NM_001267550.2(TTN):c.63986A>G (p.Asn21329Ser)
NM_001267550.2(TTN):c.64003G>A (p.Glu21335Lys)
NM_001267550.2(TTN):c.64093+4_64093+7del rs1437065772
NM_001267550.2(TTN):c.64100C>A (p.Pro21367Gln) rs754581725
NM_001267550.2(TTN):c.64204A>G (p.Ile21402Val) rs1157697777
NM_001267550.2(TTN):c.64218AGA[2] (p.Glu21409del)
NM_001267550.2(TTN):c.64245G>T (p.Trp21415Cys)
NM_001267550.2(TTN):c.64325C>T (p.Ala21442Val)
NM_001267550.2(TTN):c.6439G>A (p.Ala2147Thr)
NM_001267550.2(TTN):c.6445A>G (p.Ile2149Val) rs967525723
NM_001267550.2(TTN):c.6449T>C (p.Met2150Thr)
NM_001267550.2(TTN):c.6451G>C (p.Val2151Leu)
NM_001267550.2(TTN):c.64535A>T (p.His21512Leu)
NM_001267550.2(TTN):c.64685C>G (p.Pro21562Arg)
NM_001267550.2(TTN):c.64717G>C (p.Asp21573His)
NM_001267550.2(TTN):c.64859G>A (p.Arg21620Lys)
NM_001267550.2(TTN):c.64981A>G (p.Ser21661Gly)
NM_001267550.2(TTN):c.65074A>G (p.Ile21692Val)
NM_001267550.2(TTN):c.65144G>A (p.Arg21715Gln) rs368450785
NM_001267550.2(TTN):c.65194T>C (p.Phe21732Leu) rs397517661
NM_001267550.2(TTN):c.65260G>C (p.Ala21754Pro)
NM_001267550.2(TTN):c.65334G>T (p.Trp21778Cys)
NM_001267550.2(TTN):c.65338C>T (p.Arg21780Cys)
NM_001267550.2(TTN):c.65380G>A (p.Val21794Ile) rs373848128
NM_001267550.2(TTN):c.65380G>T (p.Val21794Leu)
NM_001267550.2(TTN):c.65390G>A (p.Cys21797Tyr)
NM_001267550.2(TTN):c.65429C>T (p.Ala21810Val)
NM_001267550.2(TTN):c.65647T>G (p.Leu21883Val) rs754416903
NM_001267550.2(TTN):c.6571A>G (p.Met2191Val)
NM_001267550.2(TTN):c.65855A>T (p.Lys21952Ile)
NM_001267550.2(TTN):c.658C>T (p.Arg220Ter) rs748313513
NM_001267550.2(TTN):c.65906A>G (p.Tyr21969Cys)
NM_001267550.2(TTN):c.65939C>G (p.Pro21980Arg)
NM_001267550.2(TTN):c.659G>T (p.Arg220Leu)
NM_001267550.2(TTN):c.66081G>T (p.Gln22027His) rs886038775
NM_001267550.2(TTN):c.66152A>C (p.Asn22051Thr)
NM_001267550.2(TTN):c.6625A>C (p.Lys2209Gln)
NM_001267550.2(TTN):c.66345A>C (p.Leu22115Phe)
NM_001267550.2(TTN):c.66364G>A (p.Glu22122Lys)
NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys) rs763729258
NM_001267550.2(TTN):c.66461A>C (p.Gln22154Pro)
NM_001267550.2(TTN):c.66463+2_66463+3insTT
NM_001267550.2(TTN):c.66582A>G (p.Glu22194=)
NM_001267550.2(TTN):c.66646C>T (p.Arg22216Cys)
NM_001267550.2(TTN):c.66647G>A (p.Arg22216His)
NM_001267550.2(TTN):c.66730A>G (p.Ser22244Gly)
NM_001267550.2(TTN):c.66744T>A (p.Asp22248Glu)
NM_001267550.2(TTN):c.66760G>A (p.Asp22254Asn)
NM_001267550.2(TTN):c.669+1G>T
NM_001267550.2(TTN):c.66938C>G (p.Thr22313Ser)
NM_001267550.2(TTN):c.66940G>A (p.Asp22314Asn)
NM_001267550.2(TTN):c.67048A>G (p.Lys22350Glu)
NM_001267550.2(TTN):c.6720T>A (p.Asp2240Glu)
NM_001267550.2(TTN):c.67325C>T (p.Thr22442Ile)
NM_001267550.2(TTN):c.67327C>T (p.Arg22443Cys)
NM_001267550.2(TTN):c.67354C>T (p.Pro22452Ser)
NM_001267550.2(TTN):c.67363G>C (p.Val22455Leu)
NM_001267550.2(TTN):c.67445G>T (p.Arg22482Leu)
NM_001267550.2(TTN):c.67462G>A (p.Val22488Ile) rs1553622498
NM_001267550.2(TTN):c.67495C>G (p.Arg22499Gly) rs574660186
NM_001267550.2(TTN):c.67503G>A (p.Met22501Ile)
NM_001267550.2(TTN):c.67615G>A (p.Val22539Ile)
NM_001267550.2(TTN):c.67637-1G>T
NM_001267550.2(TTN):c.67660G>C (p.Gly22554Arg) rs769525101
NM_001267550.2(TTN):c.67741T>A (p.Ser22581Thr)
NM_001267550.2(TTN):c.6788A>T (p.Glu2263Val)
NM_001267550.2(TTN):c.67918G>A (p.Val22640Ile) rs750093105
NM_001267550.2(TTN):c.67926C>T (p.Gly22642=)
NM_001267550.2(TTN):c.68003C>A (p.Pro22668Gln)
NM_001267550.2(TTN):c.68048A>G (p.Lys22683Arg)
NM_001267550.2(TTN):c.68064CAA[1] (p.Asn22689del)
NM_001267550.2(TTN):c.68074G>T (p.Val22692Leu)
NM_001267550.2(TTN):c.68092G>T (p.Val22698Phe)
NM_001267550.2(TTN):c.68137G>A (p.Glu22713Lys) rs895744220
NM_001267550.2(TTN):c.68224+5G>A
NM_001267550.2(TTN):c.68260G>A (p.Asp22754Asn)
NM_001267550.2(TTN):c.6832G>T (p.Val2278Phe)
NM_001267550.2(TTN):c.6835C>T (p.Pro2279Ser) rs143679901
NM_001267550.2(TTN):c.68360G>A (p.Ser22787Asn)
NM_001267550.2(TTN):c.68456T>C (p.Met22819Thr)
NM_001267550.2(TTN):c.68528-1G>T
NM_001267550.2(TTN):c.68537G>C (p.Gly22846Ala)
NM_001267550.2(TTN):c.68762C>T (p.Thr22921Ile) rs534567766
NM_001267550.2(TTN):c.68819A>G (p.Glu22940Gly)
NM_001267550.2(TTN):c.69050A>C (p.Glu23017Ala)
NM_001267550.2(TTN):c.69127C>T (p.Pro23043Ser)
NM_001267550.2(TTN):c.6913G>A (p.Glu2305Lys) rs367761468
NM_001267550.2(TTN):c.69227T>A (p.Ile23076Lys)
NM_001267550.2(TTN):c.69307A>C (p.Lys23103Gln)
NM_001267550.2(TTN):c.69359A>C (p.Tyr23120Ser) rs1271048199
NM_001267550.2(TTN):c.69413-3C>A
NM_001267550.2(TTN):c.69476G>T (p.Ser23159Ile)
NM_001267550.2(TTN):c.69510A>C (p.Glu23170Asp)
NM_001267550.2(TTN):c.69526G>A (p.Val23176Ile)
NM_001267550.2(TTN):c.69541A>G (p.Lys23181Glu)
NM_001267550.2(TTN):c.69631G>C (p.Glu23211Gln) rs1215669622
NM_001267550.2(TTN):c.69638G>C (p.Arg23213Pro)
NM_001267550.2(TTN):c.69715T>C (p.Tyr23239His)
NM_001267550.2(TTN):c.6973G>A (p.Val2325Ile)
NM_001267550.2(TTN):c.69806G>A (p.Gly23269Glu)
NM_001267550.2(TTN):c.69935A>G (p.Tyr23312Cys)
NM_001267550.2(TTN):c.69973G>C (p.Gly23325Arg)
NM_001267550.2(TTN):c.69997G>T (p.Val23333Phe)
NM_001267550.2(TTN):c.70009G>C (p.Glu23337Gln)
NM_001267550.2(TTN):c.70132T>C (p.Trp23378Arg)
NM_001267550.2(TTN):c.7021G>A (p.Asp2341Asn)
NM_001267550.2(TTN):c.70255A>C (p.Asn23419His)
NM_001267550.2(TTN):c.70391G>C (p.Gly23464Ala)
NM_001267550.2(TTN):c.70526T>C (p.Val23509Ala)
NM_001267550.2(TTN):c.7058-2A>G
NM_001267550.2(TTN):c.70777A>G (p.Arg23593Gly)
NM_001267550.2(TTN):c.71057C>T (p.Ala23686Val)
NM_001267550.2(TTN):c.71065A>G (p.Thr23689Ala)
NM_001267550.2(TTN):c.71114C>T (p.Pro23705Leu)
NM_001267550.2(TTN):c.71147G>A (p.Gly23716Asp) rs774327480
NM_001267550.2(TTN):c.71158A>G (p.Thr23720Ala)
NM_001267550.2(TTN):c.71209G>A (p.Asp23737Asn)
NM_001267550.2(TTN):c.71224G>C (p.Asp23742His)
NM_001267550.2(TTN):c.71260G>C (p.Asp23754His) rs985842925
NM_001267550.2(TTN):c.71453T>C (p.Ile23818Thr)
NM_001267550.2(TTN):c.71501A>C (p.Gln23834Pro) rs757958768
NM_001267550.2(TTN):c.71557G>A (p.Asp23853Asn)
NM_001267550.2(TTN):c.71644C>G (p.Pro23882Ala)
NM_001267550.2(TTN):c.71678A>T (p.Asp23893Val)
NM_001267550.2(TTN):c.71679T>G (p.Asp23893Glu)
NM_001267550.2(TTN):c.71707G>A (p.Ala23903Thr)
NM_001267550.2(TTN):c.71717T>C (p.Met23906Thr)
NM_001267550.2(TTN):c.71761G>C (p.Ala23921Pro)
NM_001267550.2(TTN):c.71774T>C (p.Ile23925Thr)
NM_001267550.2(TTN):c.71913G>C (p.Trp23971Cys)
NM_001267550.2(TTN):c.71974G>C (p.Asp23992His)
NM_001267550.2(TTN):c.71C>A (p.Thr24Asn)
NM_001267550.2(TTN):c.71C>G (p.Thr24Ser)
NM_001267550.2(TTN):c.72116T>G (p.Val24039Gly)
NM_001267550.2(TTN):c.72139T>C (p.Phe24047Leu)
NM_001267550.2(TTN):c.72358C>G (p.Leu24120Val)
NM_001267550.2(TTN):c.72409T>C (p.Ser24137Pro)
NM_001267550.2(TTN):c.72430T>C (p.Trp24144Arg)
NM_001267550.2(TTN):c.72526G>C (p.Glu24176Gln) rs1553609326
NM_001267550.2(TTN):c.72707A>T (p.Lys24236Ile)
NM_001267550.2(TTN):c.72710A>G (p.Asp24237Gly)
NM_001267550.2(TTN):c.72814T>C (p.Cys24272Arg)
NM_001267550.2(TTN):c.7286T>C (p.Ile2429Thr)
NM_001267550.2(TTN):c.72943_72949delinsACAAGGA (p.Tyr24315_Ala24317delinsThrArgThr)
NM_001267550.2(TTN):c.73011ATC[3] (p.Ser24339_Ile24340insSer)
NM_001267550.2(TTN):c.7301T>G (p.Leu2434Arg)
NM_001267550.2(TTN):c.73027G>A (p.Ala24343Thr)
NM_001267550.2(TTN):c.73042A>G (p.Ile24348Val)
NM_001267550.2(TTN):c.73175A>G (p.Asn24392Ser)
NM_001267550.2(TTN):c.73216G>A (p.Gly24406Arg)
NM_001267550.2(TTN):c.73234C>T (p.Leu24412Phe)
NM_001267550.2(TTN):c.73324G>A (p.Ala24442Thr)
NM_001267550.2(TTN):c.73456G>A (p.Val24486Ile)
NM_001267550.2(TTN):c.73594A>C (p.Thr24532Pro)
NM_001267550.2(TTN):c.73630C>T (p.Leu24544Phe)
NM_001267550.2(TTN):c.73651A>G (p.Ile24551Val)
NM_001267550.2(TTN):c.73724A>G (p.Lys24575Arg)
NM_001267550.2(TTN):c.73738G>A (p.Val24580Ile) rs765510494
NM_001267550.2(TTN):c.73878G>A (p.Met24626Ile) rs1060500561
NM_001267550.2(TTN):c.73987_73989del (p.Trp24663del)
NM_001267550.2(TTN):c.74274G>C (p.Gln24758His)
NM_001267550.2(TTN):c.7435T>G (p.Tyr2479Asp)
NM_001267550.2(TTN):c.7436A>G (p.Tyr2479Cys) rs1554000863
NM_001267550.2(TTN):c.74597C>G (p.Thr24866Arg)
NM_001267550.2(TTN):c.74656G>A (p.Glu24886Lys)
NM_001267550.2(TTN):c.74663G>C (p.Arg24888Thr)
NM_001267550.2(TTN):c.74692G>A (p.Glu24898Lys)
NM_001267550.2(TTN):c.7469G>T (p.Arg2490Leu) rs148920986
NM_001267550.2(TTN):c.74760_74767delinsAC (p.Ser24921_Asp24923delinsHis) rs2154169263
NM_001267550.2(TTN):c.74921AAG[1] (p.Glu24975del)
NM_001267550.2(TTN):c.7492A>G (p.Thr2498Ala) rs943280773
NM_001267550.2(TTN):c.74945G>A (p.Arg24982Lys)
NM_001267550.2(TTN):c.74968G>C (p.Gly24990Arg)
NM_001267550.2(TTN):c.7499A>G (p.Gln2500Arg)
NM_001267550.2(TTN):c.75010C>T (p.Arg25004Cys)
NM_001267550.2(TTN):c.7504C>A (p.Leu2502Ile)
NM_001267550.2(TTN):c.75065C>A (p.Ser25022Tyr)
NM_001267550.2(TTN):c.75127G>T (p.Val25043Phe) rs559907766
NM_001267550.2(TTN):c.7528T>C (p.Ser2510Pro)
NM_001267550.2(TTN):c.752A>G (p.His251Arg) rs587782983
NM_001267550.2(TTN):c.75385T>C (p.Phe25129Leu) rs373411870
NM_001267550.2(TTN):c.75410G>C (p.Gly25137Ala)
NM_001267550.2(TTN):c.75451_75453del (p.Glu25151del) rs886038885
NM_001267550.2(TTN):c.7573A>G (p.Asn2525Asp)
NM_001267550.2(TTN):c.75883C>A (p.Pro25295Thr)
NM_001267550.2(TTN):c.7628C>G (p.Thr2543Ser) rs765136135
NM_001267550.2(TTN):c.76334G>A (p.Cys25445Tyr) rs2154168053
NM_001267550.2(TTN):c.76339G>C (p.Val25447Leu)
NM_001267550.2(TTN):c.76382T>C (p.Ile25461Thr)
NM_001267550.2(TTN):c.76492C>G (p.Pro25498Ala) rs377754701
NM_001267550.2(TTN):c.76499T>C (p.Ile25500Thr)
NM_001267550.2(TTN):c.76664C>T (p.Ala25555Val)
NM_001267550.2(TTN):c.76755C>G (p.Asn25585Lys)
NM_001267550.2(TTN):c.76802C>T (p.Thr25601Met) rs374913031
NM_001267550.2(TTN):c.76811C>T (p.Pro25604Leu)
NM_001267550.2(TTN):c.76964G>A (p.Cys25655Tyr)
NM_001267550.2(TTN):c.77155T>C (p.Trp25719Arg)
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) rs368038362
NM_001267550.2(TTN):c.77302C>A (p.Leu25768Ile) rs541266544
NM_001267550.2(TTN):c.77332G>A (p.Gly25778Arg)
NM_001267550.2(TTN):c.77339G>A (p.Ser25780Asn) rs555798738
NM_001267550.2(TTN):c.77624T>C (p.Val25875Ala)
NM_001267550.2(TTN):c.77633A>G (p.Gln25878Arg) rs886038876
NM_001267550.2(TTN):c.77713G>A (p.Ala25905Thr)
NM_001267550.2(TTN):c.7778A>G (p.Asn2593Ser)
NM_001267550.2(TTN):c.7780A>G (p.Met2594Val)
NM_001267550.2(TTN):c.77818GTT[1] (p.Val25941del) rs754571796
NM_001267550.2(TTN):c.78092A>G (p.Glu26031Gly)
NM_001267550.2(TTN):c.78123C>A (p.Asn26041Lys)
NM_001267550.2(TTN):c.78190A>G (p.Arg26064Gly)
NM_001267550.2(TTN):c.78248A>G (p.Tyr26083Cys)
NM_001267550.2(TTN):c.78295A>G (p.Met26099Val)
NM_001267550.2(TTN):c.78304A>G (p.Arg26102Gly)
NM_001267550.2(TTN):c.78371T>A (p.Ile26124Asn) rs778290450
NM_001267550.2(TTN):c.78432T>G (p.Ile26144Met)
NM_001267550.2(TTN):c.78554A>G (p.Lys26185Arg)
NM_001267550.2(TTN):c.78944G>C (p.Gly26315Ala) rs886039199
NM_001267550.2(TTN):c.79012G>T (p.Ala26338Ser)
NM_001267550.2(TTN):c.79052T>C (p.Leu26351Pro)
NM_001267550.2(TTN):c.79148C>T (p.Pro26383Leu) rs1377015752
NM_001267550.2(TTN):c.7916T>G (p.Phe2639Cys) rs794729580
NM_001267550.2(TTN):c.79241G>A (p.Gly26414Asp)
NM_001267550.2(TTN):c.79256T>C (p.Ile26419Thr)
NM_001267550.2(TTN):c.79267G>T (p.Val26423Leu)
NM_001267550.2(TTN):c.79316G>A (p.Arg26439His)
NM_001267550.2(TTN):c.79366G>A (p.Glu26456Lys)
NM_001267550.2(TTN):c.7950C>T (p.Gly2650=)
NM_001267550.2(TTN):c.79550G>A (p.Ser26517Asn)
NM_001267550.2(TTN):c.79562G>A (p.Gly26521Glu)
NM_001267550.2(TTN):c.79609G>C (p.Val26537Leu)
NM_001267550.2(TTN):c.7962G>C (p.Arg2654Ser)
NM_001267550.2(TTN):c.79802G>C (p.Gly26601Ala)
NM_001267550.2(TTN):c.79810G>T (p.Val26604Leu)
NM_001267550.2(TTN):c.79825T>C (p.Ser26609Pro)
NM_001267550.2(TTN):c.7996A>G (p.Arg2666Gly)
NM_001267550.2(TTN):c.80032G>C (p.Val26678Leu)
NM_001267550.2(TTN):c.80041C>T (p.Leu26681Phe)
NM_001267550.2(TTN):c.80156T>C (p.Val26719Ala)
NM_001267550.2(TTN):c.80186C>T (p.Ala26729Val)
NM_001267550.2(TTN):c.80254A>G (p.Ile26752Val)
NM_001267550.2(TTN):c.80457G>A (p.Met26819Ile)
NM_001267550.2(TTN):c.80468G>C (p.Gly26823Ala)
NM_001267550.2(TTN):c.80663C>T (p.Thr26888Ile)
NM_001267550.2(TTN):c.80692_80697del (p.Lys26898_Ile26899del) rs1385301438
NM_001267550.2(TTN):c.80694A>C (p.Lys26898Asn) rs372650410
NM_001267550.2(TTN):c.80755C>A (p.Pro26919Thr)
NM_001267550.2(TTN):c.80785G>A (p.Glu26929Lys)
NM_001267550.2(TTN):c.80881_80882delinsAA (p.Ala26961Lys) rs1575668982
NM_001267550.2(TTN):c.80917C>G (p.Pro26973Ala)
NM_001267550.2(TTN):c.80920G>A (p.Gly26974Arg)
NM_001267550.2(TTN):c.80969T>C (p.Val26990Ala)
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.81414_81425del (p.Asp27138_Leu27141del)
NM_001267550.2(TTN):c.81431A>G (p.Glu27144Gly) rs794729512
NM_001267550.2(TTN):c.81719G>C (p.Arg27240Thr)
NM_001267550.2(TTN):c.81852_81857dup (p.Ile27285_Val27286dup) rs773439628
NM_001267550.2(TTN):c.81881T>C (p.Val27294Ala)
NM_001267550.2(TTN):c.81898C>T (p.Arg27300Cys)
NM_001267550.2(TTN):c.8204T>C (p.Val2735Ala)
NM_001267550.2(TTN):c.82075T>C (p.Ser27359Pro)
NM_001267550.2(TTN):c.82171T>C (p.Trp27391Arg) rs778983249
NM_001267550.2(TTN):c.82183T>G (p.Leu27395Val)
NM_001267550.2(TTN):c.8223_8224delinsTC (p.Lys2742Gln) rs886038896
NM_001267550.2(TTN):c.82319A>G (p.Tyr27440Cys)
NM_001267550.2(TTN):c.82333A>C (p.Met27445Leu)
NM_001267550.2(TTN):c.82404G>T (p.Lys27468Asn)
NM_001267550.2(TTN):c.8246C>G (p.Ser2749Cys)
NM_001267550.2(TTN):c.8249A>G (p.Asn2750Ser)
NM_001267550.2(TTN):c.8252A>G (p.Glu2751Gly)
NM_001267550.2(TTN):c.82546T>A (p.Trp27516Arg)
NM_001267550.2(TTN):c.82655T>G (p.Val27552Gly)
NM_001267550.2(TTN):c.82727A>G (p.Asn27576Ser) rs773621324
NM_001267550.2(TTN):c.82804G>A (p.Val27602Ile) rs886038821
NM_001267550.2(TTN):c.82810G>C (p.Gly27604Arg) rs199929362
NM_001267550.2(TTN):c.82852A>T (p.Thr27618Ser)
NM_001267550.2(TTN):c.82972G>A (p.Ala27658Thr)
NM_001267550.2(TTN):c.83101G>A (p.Gly27701Ser)
NM_001267550.2(TTN):c.83173A>C (p.Thr27725Pro)
NM_001267550.2(TTN):c.83194G>A (p.Val27732Met)
NM_001267550.2(TTN):c.83275G>A (p.Val27759Ile)
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.8330A>G (p.Tyr2777Cys)
NM_001267550.2(TTN):c.83434G>T (p.Ala27812Ser) rs727504186
NM_001267550.2(TTN):c.83608G>A (p.Val27870Ile) rs772190104
NM_001267550.2(TTN):c.83622T>G (p.Asp27874Glu)
NM_001267550.2(TTN):c.8380+3A>G
NM_001267550.2(TTN):c.83953C>T (p.Pro27985Ser)
NM_001267550.2(TTN):c.83999G>T (p.Gly28000Val)
NM_001267550.2(TTN):c.8399A>G (p.Lys2800Arg)
NM_001267550.2(TTN):c.84053C>A (p.Thr28018Lys)
NM_001267550.2(TTN):c.84130A>C (p.Ile28044Leu)
NM_001267550.2(TTN):c.84130A>G (p.Ile28044Val)
NM_001267550.2(TTN):c.84160G>C (p.Asp28054His)
NM_001267550.2(TTN):c.84181C>A (p.Pro28061Thr)
NM_001267550.2(TTN):c.84181C>T (p.Pro28061Ser) rs373806358
NM_001267550.2(TTN):c.84263G>C (p.Ser28088Thr) rs200450022
NM_001267550.2(TTN):c.84302C>T (p.Thr28101Ile)
NM_001267550.2(TTN):c.84338C>T (p.Ser28113Phe) rs753201539
NM_001267550.2(TTN):c.84428C>T (p.Ser28143Phe)
NM_001267550.2(TTN):c.84434C>T (p.Ala28145Val)
NM_001267550.2(TTN):c.84593G>C (p.Ser28198Thr) rs886039057
NM_001267550.2(TTN):c.84856G>C (p.Gly28286Arg)
NM_001267550.2(TTN):c.84920T>C (p.Ile28307Thr)
NM_001267550.2(TTN):c.85160C>T (p.Pro28387Leu)
NM_001267550.2(TTN):c.85258T>C (p.Cys28420Arg)
NM_001267550.2(TTN):c.85350G>C (p.Lys28450Asn)
NM_001267550.2(TTN):c.85432G>A (p.Asp28478Asn)
NM_001267550.2(TTN):c.85471C>T (p.Arg28491Cys)
NM_001267550.2(TTN):c.85535T>C (p.Val28512Ala)
NM_001267550.2(TTN):c.85796G>C (p.Arg28599Pro)
NM_001267550.2(TTN):c.8581G>T (p.Ala2861Ser)
NM_001267550.2(TTN):c.85837A>T (p.Thr28613Ser)
NM_001267550.2(TTN):c.85847G>A (p.Arg28616Gln)
NM_001267550.2(TTN):c.85871G>A (p.Arg28624His) rs538641703
NM_001267550.2(TTN):c.85876T>C (p.Tyr28626His) rs1477861188
NM_001267550.2(TTN):c.85922C>G (p.Pro28641Arg)
NM_001267550.2(TTN):c.85972C>T (p.Pro28658Ser)
NM_001267550.2(TTN):c.86003T>A (p.Ile28668Lys) rs374022393
NM_001267550.2(TTN):c.86336G>C (p.Arg28779Pro)
NM_001267550.2(TTN):c.86402T>C (p.Val28801Ala)
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.86809G>T (p.Val28937Leu)
NM_001267550.2(TTN):c.86818A>G (p.Thr28940Ala)
NM_001267550.2(TTN):c.86891T>C (p.Leu28964Pro)
NM_001267550.2(TTN):c.86927A>G (p.His28976Arg)
NM_001267550.2(TTN):c.8704G>C (p.Glu2902Gln)
NM_001267550.2(TTN):c.87140A>G (p.Lys29047Arg)
NM_001267550.2(TTN):c.87247G>A (p.Val29083Ile)
NM_001267550.2(TTN):c.87367A>G (p.Ser29123Gly)
NM_001267550.2(TTN):c.87376A>G (p.Thr29126Ala)
NM_001267550.2(TTN):c.87394_87396del (p.Ile29132del)
NM_001267550.2(TTN):c.87410G>A (p.Arg29137Lys)
NM_001267550.2(TTN):c.87616GAA[1] (p.Glu29207del) rs753636173
NM_001267550.2(TTN):c.87706+3A>C
NM_001267550.2(TTN):c.87707-3T>C
NM_001267550.2(TTN):c.8771G>C (p.Ser2924Thr)
NM_001267550.2(TTN):c.87730C>T (p.Pro29244Ser) rs779810701
NM_001267550.2(TTN):c.87733T>G (p.Trp29245Gly)
NM_001267550.2(TTN):c.87785T>G (p.Val29262Gly)
NM_001267550.2(TTN):c.877G>A (p.Val293Ile)
NM_001267550.2(TTN):c.8786T>G (p.Ile2929Arg) rs757111808
NM_001267550.2(TTN):c.88009+4C>T
NM_001267550.2(TTN):c.88015C>G (p.Pro29339Ala)
NM_001267550.2(TTN):c.88037A>T (p.Asp29346Val) rs374741129
NM_001267550.2(TTN):c.88084G>A (p.Asp29362Asn)
NM_001267550.2(TTN):c.88112T>A (p.Ile29371Asn)
NM_001267550.2(TTN):c.88112T>C (p.Ile29371Thr) rs767890385
NM_001267550.2(TTN):c.88253C>A (p.Ser29418Tyr)
NM_001267550.2(TTN):c.88334A>C (p.Glu29445Ala) rs1575553884
NM_001267550.2(TTN):c.8843C>T (p.Ser2948Leu) rs397517763
NM_001267550.2(TTN):c.88486G>A (p.Ala29496Thr)
NM_001267550.2(TTN):c.88646A>G (p.Glu29549Gly)
NM_001267550.2(TTN):c.88646AGA[1] (p.Lys29550del)
NM_001267550.2(TTN):c.88679ATG[1] (p.Asp29561del) rs1553546485
NM_001267550.2(TTN):c.88811A>G (p.Tyr29604Cys)
NM_001267550.2(TTN):c.88831G>A (p.Val29611Met) rs79299277
NM_001267550.2(TTN):c.88852G>A (p.Glu29618Lys) rs879222602
NM_001267550.2(TTN):c.88877T>C (p.Val29626Ala) rs766178585
NM_001267550.2(TTN):c.88883A>G (p.Lys29628Arg)
NM_001267550.2(TTN):c.88982G>A (p.Gly29661Asp)
NM_001267550.2(TTN):c.89024AGA[1] (p.Lys29676del) rs771616392
NM_001267550.2(TTN):c.89030G>A (p.Ser29677Asn)
NM_001267550.2(TTN):c.89062A>G (p.Ile29688Val)
NM_001267550.2(TTN):c.89098_89100del (p.Glu29700del) rs765495361
NM_001267550.2(TTN):c.89131G>A (p.Val29711Ile)
NM_001267550.2(TTN):c.89215_89217del (p.Ala29739del)
NM_001267550.2(TTN):c.8950G>T (p.Asp2984Tyr) rs2090998347
NM_001267550.2(TTN):c.89575G>C (p.Val29859Leu)
NM_001267550.2(TTN):c.89708C>T (p.Thr29903Ile)
NM_001267550.2(TTN):c.89900A>G (p.Asn29967Ser)
NM_001267550.2(TTN):c.90106G>T (p.Asp30036Tyr)
NM_001267550.2(TTN):c.90173_90196dup (p.Tyr30065_Val30066insGlyGlySerValIleThrGluTyr)
NM_001267550.2(TTN):c.90184A>T (p.Ile30062Phe)
NM_001267550.2(TTN):c.90410C>T (p.Pro30137Leu)
NM_001267550.2(TTN):c.90451C>T (p.Leu30151Phe) rs750520740
NM_001267550.2(TTN):c.90535C>T (p.Arg30179Cys)
NM_001267550.2(TTN):c.90610G>A (p.Val30204Ile)
NM_001267550.2(TTN):c.90656T>G (p.Val30219Gly)
NM_001267550.2(TTN):c.90685A>G (p.Lys30229Glu)
NM_001267550.2(TTN):c.90698G>A (p.Arg30233Gln)
NM_001267550.2(TTN):c.9088G>A (p.Val3030Ile)
NM_001267550.2(TTN):c.90895G>T (p.Val30299Leu)
NM_001267550.2(TTN):c.90934G>T (p.Val30312Phe)
NM_001267550.2(TTN):c.90940A>G (p.Ser30314Gly)
NM_001267550.2(TTN):c.91271-5T>C
NM_001267550.2(TTN):c.91319C>T (p.Thr30440Ile)
NM_001267550.2(TTN):c.91416C>T (p.Asn30472=)
NM_001267550.2(TTN):c.91466G>T (p.Gly30489Val)
NM_001267550.2(TTN):c.91603G>A (p.Gly30535Ser)
NM_001267550.2(TTN):c.91610TTA[1] (p.Ile30538del) rs754953607
NM_001267550.2(TTN):c.9172A>G (p.Ile3058Val)
NM_001267550.2(TTN):c.91760G>A (p.Arg30587Lys)
NM_001267550.2(TTN):c.91763A>G (p.Asp30588Gly)
NM_001267550.2(TTN):c.91813T>C (p.Ser30605Pro) rs984360776
NM_001267550.2(TTN):c.91870G>A (p.Val30624Ile)
NM_001267550.2(TTN):c.91898C>T (p.Thr30633Ile) rs780636599
NM_001267550.2(TTN):c.91934T>A (p.Leu30645His) rs886038985
NM_001267550.2(TTN):c.91942G>A (p.Gly30648Ser)
NM_001267550.2(TTN):c.91979G>A (p.Arg30660Gln)
NM_001267550.2(TTN):c.92027C>G (p.Ala30676Gly)
NM_001267550.2(TTN):c.92059G>A (p.Gly30687Ser)
NM_001267550.2(TTN):c.92173A>G (p.Ile30725Val)
NM_001267550.2(TTN):c.92351G>A (p.Gly30784Asp)
NM_001267550.2(TTN):c.92444G>A (p.Cys30815Tyr)
NM_001267550.2(TTN):c.92611G>A (p.Val30871Met)
NM_001267550.2(TTN):c.92629G>A (p.Val30877Met)
NM_001267550.2(TTN):c.92714G>T (p.Gly30905Val)
NM_001267550.2(TTN):c.92799G>C (p.Gln30933His) rs1553532340
NM_001267550.2(TTN):c.9288A>T (p.Glu3096Asp)
NM_001267550.2(TTN):c.92974G>C (p.Gly30992Arg)
NM_001267550.2(TTN):c.93130G>T (p.Gly31044Cys) rs750213547
NM_001267550.2(TTN):c.93197T>C (p.Ile31066Thr)
NM_001267550.2(TTN):c.9319_9321del (p.Lys3107del)
NM_001267550.2(TTN):c.9324G>T (p.Glu3108Asp)
NM_001267550.2(TTN):c.93485A>C (p.Glu31162Ala) rs1553529185
NM_001267550.2(TTN):c.93685G>A (p.Ala31229Thr)
NM_001267550.2(TTN):c.93734C>T (p.Pro31245Leu)
NM_001267550.2(TTN):c.93794CAA[2] (p.Thr31267del)
NM_001267550.2(TTN):c.93835A>G (p.Met31279Val)
NM_001267550.2(TTN):c.93842G>A (p.Gly31281Asp)
NM_001267550.2(TTN):c.93881_93886del (p.Ala31294_Gly31295del) rs772807300
NM_001267550.2(TTN):c.93952G>T (p.Val31318Phe)
NM_001267550.2(TTN):c.94052C>T (p.Ser31351Leu) rs794729536
NM_001267550.2(TTN):c.94061C>T (p.Thr31354Ile)
NM_001267550.2(TTN):c.94180_94181delinsTCTAGCAG (p.Pro31394delinsSerSerSer)
NM_001267550.2(TTN):c.94231G>A (p.Ala31411Thr)
NM_001267550.2(TTN):c.94333G>A (p.Val31445Ile)
NM_001267550.2(TTN):c.94436A>G (p.Tyr31479Cys) rs879013044
NM_001267550.2(TTN):c.94549G>A (p.Asp31517Asn)
NM_001267550.2(TTN):c.94571C>T (p.Ser31524Leu)
NM_001267550.2(TTN):c.94582T>C (p.Ser31528Pro)
NM_001267550.2(TTN):c.94589C>T (p.Pro31530Leu)
NM_001267550.2(TTN):c.94619G>A (p.Gly31540Asp)
NM_001267550.2(TTN):c.94655_94657del (p.Gly31552del) rs886038807
NM_001267550.2(TTN):c.9472-3C>T rs1553988133
NM_001267550.2(TTN):c.94747C>T (p.Arg31583Cys)
NM_001267550.2(TTN):c.94843G>A (p.Glu31615Lys)
NM_001267550.2(TTN):c.94885G>A (p.Ala31629Thr)
NM_001267550.2(TTN):c.95042G>A (p.Ser31681Asn)
NM_001267550.2(TTN):c.95232C>G (p.Ile31744Met)
NM_001267550.2(TTN):c.95335A>C (p.Ile31779Leu) rs886039071
NM_001267550.2(TTN):c.9533A>T (p.His3178Leu) rs1334781459
NM_001267550.2(TTN):c.95384A>T (p.Glu31795Val)
NM_001267550.2(TTN):c.95417-4A>T
NM_001267550.2(TTN):c.9548G>A (p.Gly3183Asp)
NM_001267550.2(TTN):c.95501A>C (p.Asp31834Ala)
NM_001267550.2(TTN):c.95549A>G (p.Lys31850Arg)
NM_001267550.2(TTN):c.95573A>G (p.Asn31858Ser)
NM_001267550.2(TTN):c.95623G>A (p.Glu31875Lys)
NM_001267550.2(TTN):c.95651C>T (p.Thr31884Ile)
NM_001267550.2(TTN):c.95654C>T (p.Ala31885Val)
NM_001267550.2(TTN):c.95851_95853del (p.Lys31951del) rs752016475
NM_001267550.2(TTN):c.95875G>C (p.Val31959Leu)
NM_001267550.2(TTN):c.95876T>A (p.Val31959Glu)
NM_001267550.2(TTN):c.95968G>A (p.Val31990Met) rs727503541
NM_001267550.2(TTN):c.95988C>T (p.Tyr31996=)
NM_001267550.2(TTN):c.95993A>C (p.Glu31998Ala)
NM_001267550.2(TTN):c.96021A>C (p.Glu32007Asp)
NM_001267550.2(TTN):c.96085G>A (p.Gly32029Arg)
NM_001267550.2(TTN):c.96089C>A (p.Ala32030Asp)
NM_001267550.2(TTN):c.96212T>G (p.Ile32071Arg) rs755545981
NM_001267550.2(TTN):c.96229C>A (p.Arg32077=) rs751316145
NM_001267550.2(TTN):c.96310+2T>G rs794729303
NM_001267550.2(TTN):c.96392T>C (p.Ile32131Thr) rs978818932
NM_001267550.2(TTN):c.96414C>A (p.Asn32138Lys)
NM_001267550.2(TTN):c.96416A>G (p.Asn32139Ser)
NM_001267550.2(TTN):c.96432G>T (p.Lys32144Asn)
NM_001267550.2(TTN):c.96586G>A (p.Ala32196Thr)
NM_001267550.2(TTN):c.96599C>T (p.Ser32200Leu)
NM_001267550.2(TTN):c.96605T>C (p.Val32202Ala)
NM_001267550.2(TTN):c.96807A>T (p.Glu32269Asp) rs876658095
NM_001267550.2(TTN):c.96850G>C (p.Gly32284Arg)
NM_001267550.2(TTN):c.96904+1G>A rs1553517092
NM_001267550.2(TTN):c.96970G>A (p.Val32324Ile) rs1454125243
NM_001267550.2(TTN):c.9703+4T>C
NM_001267550.2(TTN):c.97085C>T (p.Ala32362Val)
NM_001267550.2(TTN):c.97100G>A (p.Arg32367His)
NM_001267550.2(TTN):c.97193-3T>C
NM_001267550.2(TTN):c.97283G>A (p.Gly32428Asp) rs1060500592
NM_001267550.2(TTN):c.97315C>A (p.Gln32439Lys)
NM_001267550.2(TTN):c.97423G>A (p.Ala32475Thr)
NM_001267550.2(TTN):c.97492+1G>A rs727505319
NM_001267550.2(TTN):c.97492+2T>C
NM_001267550.2(TTN):c.97578C>G (p.Asp32526Glu) rs142907833
NM_001267550.2(TTN):c.97580G>A (p.Gly32527Asp)
NM_001267550.2(TTN):c.97583G>C (p.Gly32528Ala)
NM_001267550.2(TTN):c.97700G>A (p.Gly32567Asp)
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.97897A>G (p.Thr32633Ala)
NM_001267550.2(TTN):c.97900G>A (p.Gly32634Ser) rs1693772565
NM_001267550.2(TTN):c.97901G>A (p.Gly32634Asp)
NM_001267550.2(TTN):c.97939T>C (p.Trp32647Arg)
NM_001267550.2(TTN):c.97946A>C (p.Lys32649Thr)
NM_001267550.2(TTN):c.98054A>G (p.Glu32685Gly)
NM_001267550.2(TTN):c.98073A>T (p.Gly32691=)
NM_001267550.2(TTN):c.98091A>C (p.Glu32697Asp)
NM_001267550.2(TTN):c.9812C>T (p.Ser3271Phe) rs867536098
NM_001267550.2(TTN):c.98228A>G (p.Gln32743Arg)
NM_001267550.2(TTN):c.98296G>T (p.Asp32766Tyr) rs727504449
NM_001267550.2(TTN):c.98330T>G (p.Leu32777Arg) rs1553510213
NM_001267550.2(TTN):c.98713G>A (p.Glu32905Lys) rs763344306
NM_001267550.2(TTN):c.98766A>C (p.Lys32922Asn)
NM_001267550.2(TTN):c.98927ATG[1] (p.Asp32977del) rs748211870
NM_001267550.2(TTN):c.98966C>G (p.Pro32989Arg)
NM_001267550.2(TTN):c.99016G>C (p.Glu33006Gln) rs201931674
NM_001267550.2(TTN):c.99058G>A (p.Glu33020Lys)
NM_001267550.2(TTN):c.99224C>T (p.Ala33075Val)
NM_001267550.2(TTN):c.99267G>A (p.Met33089Ile)
NM_001267550.2(TTN):c.99289+1G>C rs2154139165
NM_001267550.2(TTN):c.99290C>A (p.Ser33097Tyr)
NM_001267550.2(TTN):c.99308T>A (p.Ile33103Lys)
NM_001267550.2(TTN):c.99314A>T (p.Lys33105Ile)
NM_001267550.2(TTN):c.99421C>T (p.Leu33141Phe) rs886039134
NM_001267550.2(TTN):c.99422T>C (p.Leu33141Pro) rs1553505321
NM_001267550.2(TTN):c.99569T>G (p.Leu33190Arg) rs1553504950
NM_001267550.2(TTN):c.99845T>C (p.Ile33282Thr)
NM_001267550.2(TTN):c.99865+2T>C
NM_001267550.2(TTN):c.99931A>G (p.Ser33311Gly)
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503
NM_001276345.2(TNNT2):c.-1C>A rs776936911
NM_001276345.2(TNNT2):c.-1C>T rs776936911
NM_001276345.2(TNNT2):c.104A>T (p.Glu35Val)
NM_001276345.2(TNNT2):c.121G>A (p.Asp41Asn) rs748078123
NM_001276345.2(TNNT2):c.131C>T (p.Ala44Val)
NM_001276345.2(TNNT2):c.142A>G (p.Thr48Ala)
NM_001276345.2(TNNT2):c.155G>A (p.Arg52Lys)
NM_001276345.2(TNNT2):c.157G>A (p.Ala53Thr)
NM_001276345.2(TNNT2):c.163+2T>C
NM_001276345.2(TNNT2):c.209T>A (p.Met70Lys)
NM_001276345.2(TNNT2):c.238T>C (p.Phe80Leu) rs886039053
NM_001276345.2(TNNT2):c.248A>C (p.Asn83Thr)
NM_001276345.2(TNNT2):c.262A>G (p.Lys88Glu) rs1659525886
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser) rs397516451
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.294+5G>A rs533357783
NM_001276345.2(TNNT2):c.298A>G (p.Ile100Val)
NM_001276345.2(TNNT2):c.301C>T (p.His101Tyr) rs2102262282
NM_001276345.2(TNNT2):c.309G>T (p.Lys103Asn) rs778426227
NM_001276345.2(TNNT2):c.332A>G (p.Glu111Gly)
NM_001276345.2(TNNT2):c.341C>A (p.Ala114Glu) rs727504245
NM_001276345.2(TNNT2):c.347_348delinsCT (p.Ile116Thr) rs1553282523
NM_001276345.2(TNNT2):c.375del (p.Glu126fs) rs560019679
NM_001276345.2(TNNT2):c.388C>G (p.Leu130Val)
NM_001276345.2(TNNT2):c.3G>A (p.Met1Ile) rs1289914935
NM_001276345.2(TNNT2):c.408G>C (p.Arg136Ser) rs2102260528
NM_001276345.2(TNNT2):c.412G>C (p.Glu138Gln)
NM_001276345.2(TNNT2):c.413A>G (p.Glu138Gly)
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.445C>T (p.Arg149Cys) rs397516465
NM_001276345.2(TNNT2):c.451del (p.Arg151fs) rs730881115
NM_001276345.2(TNNT2):c.463G>A (p.Glu155Lys) rs984218824
NM_001276345.2(TNNT2):c.470A>G (p.Glu157Gly)
NM_001276345.2(TNNT2):c.481C>T (p.Arg161Cys) rs45608937
NM_001276345.2(TNNT2):c.482G>T (p.Arg161Leu)
NM_001276345.2(TNNT2):c.499G>T (p.Ala167Ser) rs1553281319
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys) rs1558225569
NM_001276345.2(TNNT2):c.52+4A>G
NM_001276345.2(TNNT2):c.554A>G (p.Lys185Arg)
NM_001276345.2(TNNT2):c.580T>C (p.Phe194Leu)
NM_001276345.2(TNNT2):c.583G>C (p.Gly195Arg)
NM_001276345.2(TNNT2):c.609+1G>C
NM_001276345.2(TNNT2):c.611C>T (p.Thr204Ile) rs2102235172
NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp) rs730881106
NM_001276345.2(TNNT2):c.620A>G (p.Lys207Arg)
NM_001276345.2(TNNT2):c.632G>A (p.Arg211Lys)
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) rs45586240
NM_001276345.2(TNNT2):c.719+3G>C
NM_001276345.2(TNNT2):c.719G>A (p.Arg240Lys) rs2102233852
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.806A>G (p.Tyr269Cys) rs1553280112
NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn) rs121964861
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) rs863225119
NM_001276345.2(TNNT2):c.844C>T (p.Gln282Ter) rs796925245
NM_001276345.2(TNNT2):c.852-2A>C rs111692981
NM_001276345.2(TNNT2):c.886C>A (p.Arg296Ser) rs367785431
NM_001276345.2(TNNT2):c.895T>C (p.Ter299Gln)
NM_001289808.2(CRYAB):c.-2C>T rs782389011
NM_001289808.2(CRYAB):c.115C>T (p.Pro39Ser) rs145768025
NM_001289808.2(CRYAB):c.125C>G (p.Thr42Ser)
NM_001289808.2(CRYAB):c.130C>A (p.Leu44Met)
NM_001289808.2(CRYAB):c.187A>G (p.Thr63Ala) rs375886627
NM_001289808.2(CRYAB):c.295G>T (p.Glu99Ter) rs1965414571
NM_001289808.2(CRYAB):c.324+5G>A
NM_001289808.2(CRYAB):c.345C>T (p.Ser115=)
NM_001289808.2(CRYAB):c.4G>A (p.Asp2Asn)
NM_001289808.2(CRYAB):c.509C>T (p.Thr170Ile)
NM_001289808.2(CRYAB):c.68T>C (p.Leu23Pro) rs1555165587
NM_001289808.2(CRYAB):c.85G>A (p.Gly29Arg) rs148500053
NM_001308093.3(GATA4):c.1001C>T (p.Ala334Val)
NM_001308093.3(GATA4):c.1091C>G (p.Pro364Arg)
NM_001308093.3(GATA4):c.1145C>G (p.Ser382Cys)
NM_001308093.3(GATA4):c.1155C>G (p.Phe385Leu) rs957671450
NM_001308093.3(GATA4):c.1177C>T (p.His393Tyr)
NM_001308093.3(GATA4):c.1178A>G (p.His393Arg) rs766572598
NM_001308093.3(GATA4):c.1181G>T (p.Gly394Val)
NM_001308093.3(GATA4):c.1202T>C (p.Leu401Pro)
NM_001308093.3(GATA4):c.1210C>G (p.Leu404Val)
NM_001308093.3(GATA4):c.1232A>G (p.Tyr411Cys)
NM_001308093.3(GATA4):c.1232A>T (p.Tyr411Phe) rs909187176
NM_001308093.3(GATA4):c.127C>T (p.Arg43Trp) rs387906770
NM_001308093.3(GATA4):c.1301C>G (p.Ala434Gly)
NM_001308093.3(GATA4):c.1311C>A (p.His437Gln)
NM_001308093.3(GATA4):c.1318A>T (p.Ile440Leu) rs772619099
NM_001308093.3(GATA4):c.1322T>G (p.Ile441Ser)
NM_001308093.3(GATA4):c.143T>C (p.Val48Ala) rs1272999942
NM_001308093.3(GATA4):c.148G>C (p.Gly50Arg)
NM_001308093.3(GATA4):c.187T>G (p.Ser63Ala)
NM_001308093.3(GATA4):c.236G>T (p.Gly79Val)
NM_001308093.3(GATA4):c.253G>T (p.Gly85Cys)
NM_001308093.3(GATA4):c.292G>A (p.Ala98Thr)
NM_001308093.3(GATA4):c.310G>A (p.Val104Met)
NM_001308093.3(GATA4):c.332C>T (p.Pro111Leu)
NM_001308093.3(GATA4):c.340A>C (p.Thr114Pro)
NM_001308093.3(GATA4):c.353C>T (p.Ala118Val)
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup) rs1182566703
NM_001308093.3(GATA4):c.380G>T (p.Arg127Leu)
NM_001308093.3(GATA4):c.409G>C (p.Gly137Arg)
NM_001308093.3(GATA4):c.428T>G (p.Leu143Arg)
NM_001308093.3(GATA4):c.505G>T (p.Val169Leu)
NM_001308093.3(GATA4):c.512C>G (p.Ala171Gly)
NM_001308093.3(GATA4):c.598G>A (p.Ala200Thr)
NM_001308093.3(GATA4):c.602G>A (p.Arg201Gln)
NM_001308093.3(GATA4):c.607C>T (p.Pro203Ser)
NM_001308093.3(GATA4):c.612T>A (p.Asn204Lys)
NM_001308093.3(GATA4):c.631G>T (p.Asp211Tyr) rs377673676
NM_001308093.3(GATA4):c.768C>G (p.Ile256Met)
NM_001308093.3(GATA4):c.76T>G (p.Phe26Val) rs1554488388
NM_001308093.3(GATA4):c.790G>T (p.Ala264Ser) rs201520087
NM_001308093.3(GATA4):c.830C>G (p.Thr277Ser)
NM_001308093.3(GATA4):c.841A>T (p.Thr281Ser) rs1356876573
NM_001308093.3(GATA4):c.928G>C (p.Ala310Pro)
NM_001308093.3(GATA4):c.976C>A (p.Leu326Met)
NM_001365276.2(TNXB):c.10006G>A (p.Gly3336Arg)
NM_001365276.2(TNXB):c.10006G>T (p.Gly3336Trp)
NM_001365276.2(TNXB):c.10024G>A (p.Val3342Ile)
NM_001365276.2(TNXB):c.10025T>A (p.Val3342Asp)
NM_001365276.2(TNXB):c.10033G>A (p.Glu3345Lys)
NM_001365276.2(TNXB):c.10045G>A (p.Ala3349Thr) rs529527925
NM_001365276.2(TNXB):c.1008C>A (p.Asp336Glu)
NM_001365276.2(TNXB):c.10096G>T (p.Ala3366Ser)
NM_001365276.2(TNXB):c.10121C>T (p.Ser3374Leu)
NM_001365276.2(TNXB):c.10127C>T (p.Thr3376Met)
NM_001365276.2(TNXB):c.1013G>A (p.Gly338Asp)
NM_001365276.2(TNXB):c.1013G>T (p.Gly338Val)
NM_001365276.2(TNXB):c.10141G>A (p.Glu3381Lys)
NM_001365276.2(TNXB):c.10147G>A (p.Asp3383Asn)
NM_001365276.2(TNXB):c.10156G>A (p.Val3386Met)
NM_001365276.2(TNXB):c.10164G>C (p.Gln3388His)
NM_001365276.2(TNXB):c.10191G>T (p.Gln3397His)
NM_001365276.2(TNXB):c.10193T>G (p.Val3398Gly)
NM_001365276.2(TNXB):c.10196T>C (p.Val3399Ala)
NM_001365276.2(TNXB):c.10216C>T (p.Arg3406Trp)
NM_001365276.2(TNXB):c.10246A>G (p.Ser3416Gly)
NM_001365276.2(TNXB):c.10292G>A (p.Arg3431Gln)
NM_001365276.2(TNXB):c.1030T>C (p.Trp344Arg)
NM_001365276.2(TNXB):c.10327C>G (p.Pro3443Ala)
NM_001365276.2(TNXB):c.10336A>C (p.Lys3446Gln) rs2151887878
NM_001365276.2(TNXB):c.10338G>T (p.Lys3446Asn)
NM_001365276.2(TNXB):c.10358G>A (p.Gly3453Glu)
NM_001365276.2(TNXB):c.1035C>G (p.Asp345Glu)
NM_001365276.2(TNXB):c.10369G>A (p.Val3457Met)
NM_001365276.2(TNXB):c.10387A>G (p.Ser3463Gly)
NM_001365276.2(TNXB):c.10403C>A (p.Ser3468Tyr)
NM_001365276.2(TNXB):c.10405T>A (p.Trp3469Arg)
NM_001365276.2(TNXB):c.10406G>T (p.Trp3469Leu)
NM_001365276.2(TNXB):c.10409C>T (p.Thr3470Met)
NM_001365276.2(TNXB):c.10411G>T (p.Val3471Leu)
NM_001365276.2(TNXB):c.10460A>G (p.Asp3487Gly)
NM_001365276.2(TNXB):c.10480C>G (p.Pro3494Ala)
NM_001365276.2(TNXB):c.10489G>A (p.Ala3497Thr)
NM_001365276.2(TNXB):c.10510G>T (p.Val3504Leu) rs759767266
NM_001365276.2(TNXB):c.10523A>G (p.Glu3508Gly)
NM_001365276.2(TNXB):c.10574G>A (p.Arg3525His)
NM_001365276.2(TNXB):c.10583C>G (p.Pro3528Arg)
NM_001365276.2(TNXB):c.10601T>A (p.Met3534Lys)
NM_001365276.2(TNXB):c.1061A>G (p.Asp354Gly)
NM_001365276.2(TNXB):c.1066C>T (p.Arg356Cys)
NM_001365276.2(TNXB):c.1109C>A (p.Thr370Lys)
NM_001365276.2(TNXB):c.1109C>T (p.Thr370Met)
NM_001365276.2(TNXB):c.1126G>A (p.Asp376Asn)
NM_001365276.2(TNXB):c.1127A>G (p.Asp376Gly)
NM_001365276.2(TNXB):c.112C>T (p.Arg38Trp)
NM_001365276.2(TNXB):c.1138C>T (p.Arg380Cys)
NM_001365276.2(TNXB):c.1145G>A (p.Arg382His)
NM_001365276.2(TNXB):c.1162T>G (p.Cys388Gly) rs1307690516
NM_001365276.2(TNXB):c.1170C>G (p.Cys390Trp)
NM_001365276.2(TNXB):c.1221C>G (p.Asp407Glu)
NM_001365276.2(TNXB):c.1226A>C (p.Asn409Thr)
NM_001365276.2(TNXB):c.1248C>A (p.Asp416Glu)
NM_001365276.2(TNXB):c.1252C>A (p.Arg418Ser)
NM_001365276.2(TNXB):c.1259T>A (p.Val420Glu)
NM_001365276.2(TNXB):c.1259T>C (p.Val420Ala) rs200226242
NM_001365276.2(TNXB):c.1263_1448del (p.Thr428_Gly489del) rs2127289918
NM_001365276.2(TNXB):c.1268C>A (p.Pro423Gln)
NM_001365276.2(TNXB):c.127C>G (p.Pro43Ala)
NM_001365276.2(TNXB):c.128C>T (p.Pro43Leu)
NM_001365276.2(TNXB):c.1291G>A (p.Gly431Ser)
NM_001365276.2(TNXB):c.1300G>C (p.Ala434Pro)
NM_001365276.2(TNXB):c.1411_1413del (p.Arg471del)
NM_001365276.2(TNXB):c.1439G>C (p.Arg480Pro)
NM_001365276.2(TNXB):c.1446G>C (p.Met482Ile)
NM_001365276.2(TNXB):c.1465G>A (p.Gly489Ser)
NM_001365276.2(TNXB):c.1473C>G (p.Asp491Glu)
NM_001365276.2(TNXB):c.148G>T (p.Ala50Ser)
NM_001365276.2(TNXB):c.1499A>G (p.Asp500Gly)
NM_001365276.2(TNXB):c.1502G>C (p.Cys501Ser)
NM_001365276.2(TNXB):c.1507GGGCGC[3] (p.503GR[3]) rs767532350
NM_001365276.2(TNXB):c.1517G>C (p.Arg506Pro)
NM_001365276.2(TNXB):c.1544A>G (p.Asn515Ser)
NM_001365276.2(TNXB):c.1567T>A (p.Cys523Ser)
NM_001365276.2(TNXB):c.1577G>A (p.Arg526His)
NM_001365276.2(TNXB):c.1583G>A (p.Cys528Tyr)
NM_001365276.2(TNXB):c.1625T>A (p.Val542Glu)
NM_001365276.2(TNXB):c.1656A>C (p.Glu552Asp)
NM_001365276.2(TNXB):c.1678C>T (p.Pro560Ser)
NM_001365276.2(TNXB):c.167C>G (p.Ser56Cys)
NM_001365276.2(TNXB):c.1750G>T (p.Asp584Tyr)
NM_001365276.2(TNXB):c.1787A>G (p.Gln596Arg)
NM_001365276.2(TNXB):c.1795G>A (p.Val599Met)
NM_001365276.2(TNXB):c.1807G>C (p.Gly603Arg)
NM_001365276.2(TNXB):c.181G>A (p.Glu61Lys)
NM_001365276.2(TNXB):c.1832A>T (p.Tyr611Phe)
NM_001365276.2(TNXB):c.1834G>A (p.Val612Met)
NM_001365276.2(TNXB):c.1846T>G (p.Cys616Gly)
NM_001365276.2(TNXB):c.1927A>C (p.Thr643Pro)
NM_001365276.2(TNXB):c.1948C>G (p.Arg650Gly)
NM_001365276.2(TNXB):c.1976G>T (p.Arg659Leu)
NM_001365276.2(TNXB):c.197G>C (p.Gly66Ala)
NM_001365276.2(TNXB):c.2023G>A (p.Gly675Ser)
NM_001365276.2(TNXB):c.2054C>G (p.Ala685Gly)
NM_001365276.2(TNXB):c.2096G>C (p.Arg699Pro)
NM_001365276.2(TNXB):c.2105A>G (p.Gln702Arg)
NM_001365276.2(TNXB):c.2107T>C (p.Cys703Arg)
NM_001365276.2(TNXB):c.2189A>C (p.His730Pro)
NM_001365276.2(TNXB):c.2207G>A (p.Cys736Tyr)
NM_001365276.2(TNXB):c.2207G>T (p.Cys736Phe)
NM_001365276.2(TNXB):c.2296C>G (p.Arg766Gly)
NM_001365276.2(TNXB):c.2297G>A (p.Arg766Gln)
NM_001365276.2(TNXB):c.2312C>T (p.Pro771Leu)
NM_001365276.2(TNXB):c.2336A>G (p.Tyr779Cys)
NM_001365276.2(TNXB):c.2345A>G (p.Gln782Arg)
NM_001365276.2(TNXB):c.2357C>T (p.Thr786Met)
NM_001365276.2(TNXB):c.2377C>T (p.Pro793Ser)
NM_001365276.2(TNXB):c.2384C>T (p.Thr795Ile)
NM_001365276.2(TNXB):c.2414A>G (p.Tyr805Cys)
NM_001365276.2(TNXB):c.2441A>G (p.Gln814Arg)
NM_001365276.2(TNXB):c.2462G>A (p.Arg821Gln)
NM_001365276.2(TNXB):c.2482T>G (p.Trp828Gly)
NM_001365276.2(TNXB):c.2566C>A (p.Leu856Met)
NM_001365276.2(TNXB):c.2585G>A (p.Arg862His)
NM_001365276.2(TNXB):c.2590C>A (p.Gln864Lys)
NM_001365276.2(TNXB):c.2606G>A (p.Arg869Gln)
NM_001365276.2(TNXB):c.2618C>A (p.Ser873Tyr)
NM_001365276.2(TNXB):c.2632G>A (p.Gly878Ser)
NM_001365276.2(TNXB):c.2644G>A (p.Val882Met)
NM_001365276.2(TNXB):c.2648G>A (p.Arg883Lys)
NM_001365276.2(TNXB):c.2662C>G (p.Pro888Ala)
NM_001365276.2(TNXB):c.2704G>A (p.Val902Ile)
NM_001365276.2(TNXB):c.2726C>T (p.Thr909Ile)
NM_001365276.2(TNXB):c.2740C>T (p.Arg914Trp)
NM_001365276.2(TNXB):c.277C>T (p.Pro93Ser)
NM_001365276.2(TNXB):c.2821C>T (p.Pro941Ser)
NM_001365276.2(TNXB):c.2839A>T (p.Thr947Ser)
NM_001365276.2(TNXB):c.2840C>T (p.Thr947Met)
NM_001365276.2(TNXB):c.2842A>T (p.Thr948Ser)
NM_001365276.2(TNXB):c.2843C>T (p.Thr948Met)
NM_001365276.2(TNXB):c.2852C>T (p.Ala951Val)
NM_001365276.2(TNXB):c.2857G>T (p.Ala953Ser)
NM_001365276.2(TNXB):c.2863C>T (p.Leu955Phe)
NM_001365276.2(TNXB):c.2876G>A (p.Arg959His)
NM_001365276.2(TNXB):c.2882A>G (p.Gln961Arg)
NM_001365276.2(TNXB):c.289G>A (p.Ala97Thr)
NM_001365276.2(TNXB):c.2915A>G (p.Asp972Gly)
NM_001365276.2(TNXB):c.2966C>T (p.Ala989Val)
NM_001365276.2(TNXB):c.2996A>C (p.Glu999Ala)
NM_001365276.2(TNXB):c.29C>G (p.Ser10Cys)
NM_001365276.2(TNXB):c.3058C>A (p.Pro1020Thr)
NM_001365276.2(TNXB):c.3074C>T (p.Pro1025Leu)
NM_001365276.2(TNXB):c.3128T>C (p.Ile1043Thr)
NM_001365276.2(TNXB):c.3142A>G (p.Ile1048Val)
NM_001365276.2(TNXB):c.316C>G (p.Arg106Gly)
NM_001365276.2(TNXB):c.316C>T (p.Arg106Cys)
NM_001365276.2(TNXB):c.317G>T (p.Arg106Leu)
NM_001365276.2(TNXB):c.3190C>T (p.Arg1064Cys)
NM_001365276.2(TNXB):c.3206C>T (p.Thr1069Met)
NM_001365276.2(TNXB):c.3241C>T (p.Arg1081Cys)
NM_001365276.2(TNXB):c.3256G>A (p.Glu1086Lys)
NM_001365276.2(TNXB):c.326T>G (p.Ile109Ser)
NM_001365276.2(TNXB):c.3295A>G (p.Arg1099Gly)
NM_001365276.2(TNXB):c.3301G>A (p.Gly1101Arg)
NM_001365276.2(TNXB):c.3326A>G (p.Glu1109Gly)
NM_001365276.2(TNXB):c.3329G>T (p.Gly1110Val)
NM_001365276.2(TNXB):c.3341C>T (p.Ser1114Leu)
NM_001365276.2(TNXB):c.3346G>A (p.Val1116Ile)
NM_001365276.2(TNXB):c.3414G>C (p.Arg1138Ser)
NM_001365276.2(TNXB):c.3422C>T (p.Pro1141Leu)
NM_001365276.2(TNXB):c.3455G>A (p.Ser1152Asn)
NM_001365276.2(TNXB):c.3464G>C (p.Ser1155Thr)
NM_001365276.2(TNXB):c.3475C>G (p.Pro1159Ala)
NM_001365276.2(TNXB):c.3537G>C (p.Trp1179Cys)
NM_001365276.2(TNXB):c.3583G>T (p.Asp1195Tyr)
NM_001365276.2(TNXB):c.3595C>T (p.Arg1199Trp) rs1462486516
NM_001365276.2(TNXB):c.3604G>A (p.Val1202Met)
NM_001365276.2(TNXB):c.3624C>T (p.Pro1208=)
NM_001365276.2(TNXB):c.3628C>A (p.Arg1210Ser)
NM_001365276.2(TNXB):c.3629G>A (p.Arg1210His)
NM_001365276.2(TNXB):c.3644C>T (p.Ser1215Phe)
NM_001365276.2(TNXB):c.3659A>T (p.Asp1220Val)
NM_001365276.2(TNXB):c.3662A>C (p.His1221Pro)
NM_001365276.2(TNXB):c.3665A>T (p.Lys1222Met)
NM_001365276.2(TNXB):c.3692C>A (p.Ala1231Glu)
NM_001365276.2(TNXB):c.3692C>T (p.Ala1231Val)
NM_001365276.2(TNXB):c.3704G>A (p.Arg1235Gln)
NM_001365276.2(TNXB):c.3724G>A (p.Asp1242Asn)
NM_001365276.2(TNXB):c.3730A>C (p.Thr1244Pro)
NM_001365276.2(TNXB):c.3756G>C (p.Glu1252Asp)
NM_001365276.2(TNXB):c.3758C>A (p.Pro1253His) rs188789382
NM_001365276.2(TNXB):c.3758C>T (p.Pro1253Leu) rs188789382
NM_001365276.2(TNXB):c.3761C>G (p.Pro1254Arg) rs762130701
NM_001365276.2(TNXB):c.3763C>G (p.Arg1255Gly) rs376472382
NM_001365276.2(TNXB):c.3763C>T (p.Arg1255Cys) rs376472382
NM_001365276.2(TNXB):c.3770A>T (p.Glu1257Val)
NM_001365276.2(TNXB):c.380C>G (p.Pro127Arg)
NM_001365276.2(TNXB):c.3832C>T (p.Arg1278Cys)
NM_001365276.2(TNXB):c.3833G>A (p.Arg1278His)
NM_001365276.2(TNXB):c.3847G>C (p.Val1283Leu)
NM_001365276.2(TNXB):c.3881A>G (p.Gln1294Arg)
NM_001365276.2(TNXB):c.3886A>G (p.Lys1296Glu)
NM_001365276.2(TNXB):c.3905C>A (p.Pro1302His)
NM_001365276.2(TNXB):c.3916C>A (p.Pro1306Thr)
NM_001365276.2(TNXB):c.3919G>A (p.Val1307Ile)
NM_001365276.2(TNXB):c.3926G>T (p.Gly1309Val)
NM_001365276.2(TNXB):c.3928G>A (p.Asp1310Asn)
NM_001365276.2(TNXB):c.3949C>A (p.Pro1317Thr)
NM_001365276.2(TNXB):c.3965A>G (p.Asp1322Gly)
NM_001365276.2(TNXB):c.3967C>G (p.Arg1323Gly) rs568613138
NM_001365276.2(TNXB):c.3967C>T (p.Arg1323Trp)
NM_001365276.2(TNXB):c.3972G>T (p.Lys1324Asn)
NM_001365276.2(TNXB):c.3981G>A (p.Met1327Ile)
NM_001365276.2(TNXB):c.3989A>C (p.Tyr1330Ser)
NM_001365276.2(TNXB):c.4009C>T (p.Arg1337Cys)
NM_001365276.2(TNXB):c.4010G>A (p.Arg1337His) rs61735731
NM_001365276.2(TNXB):c.4016G>A (p.Gly1339Glu)
NM_001365276.2(TNXB):c.403+3G>A
NM_001365276.2(TNXB):c.4044T>G (p.Ala1348=)
NM_001365276.2(TNXB):c.407A>C (p.Gln136Pro)
NM_001365276.2(TNXB):c.40C>G (p.Leu14Val)
NM_001365276.2(TNXB):c.4100C>T (p.Pro1367Leu)
NM_001365276.2(TNXB):c.4118C>T (p.Pro1373Leu)
NM_001365276.2(TNXB):c.4180G>A (p.Val1394Ile)
NM_001365276.2(TNXB):c.4198G>A (p.Asp1400Asn)
NM_001365276.2(TNXB):c.419G>A (p.Arg140Gln)
NM_001365276.2(TNXB):c.419G>T (p.Arg140Leu)
NM_001365276.2(TNXB):c.4210G>T (p.Val1404Leu)
NM_001365276.2(TNXB):c.4234C>T (p.Arg1412Trp)
NM_001365276.2(TNXB):c.4235G>A (p.Arg1412Gln)
NM_001365276.2(TNXB):c.4237C>T (p.Pro1413Ser)
NM_001365276.2(TNXB):c.4238C>T (p.Pro1413Leu)
NM_001365276.2(TNXB):c.4250G>A (p.Arg1417His)
NM_001365276.2(TNXB):c.4262A>G (p.Lys1421Arg)
NM_001365276.2(TNXB):c.4274T>C (p.Val1425Ala)
NM_001365276.2(TNXB):c.4276A>G (p.Thr1426Ala)
NM_001365276.2(TNXB):c.4279G>T (p.Val1427Leu)
NM_001365276.2(TNXB):c.4300C>T (p.His1434Tyr)
NM_001365276.2(TNXB):c.4310A>T (p.Lys1437Met)
NM_001365276.2(TNXB):c.4318C>G (p.Leu1440Val)
NM_001365276.2(TNXB):c.4324G>A (p.Gly1442Ser)
NM_001365276.2(TNXB):c.4342C>T (p.Arg1448Cys)
NM_001365276.2(TNXB):c.4343G>A (p.Arg1448His)
NM_001365276.2(TNXB):c.4345G>C (p.Val1449Leu)
NM_001365276.2(TNXB):c.4352C>G (p.Pro1451Arg)
NM_001365276.2(TNXB):c.4363G>A (p.Val1455Met)
NM_001365276.2(TNXB):c.4369G>A (p.Val1457Met)
NM_001365276.2(TNXB):c.437A>G (p.His146Arg)
NM_001365276.2(TNXB):c.4397C>T (p.Pro1466Leu)
NM_001365276.2(TNXB):c.4426C>T (p.Arg1476Cys)
NM_001365276.2(TNXB):c.4523A>G (p.Tyr1508Cys)
NM_001365276.2(TNXB):c.4535_4552del (p.Asp1512_Val1517del) rs774779027
NM_001365276.2(TNXB):c.4543C>T (p.Pro1515Ser)
NM_001365276.2(TNXB):c.457C>T (p.Arg153Cys)
NM_001365276.2(TNXB):c.4601C>T (p.Pro1534Leu)
NM_001365276.2(TNXB):c.4618A>G (p.Met1540Val)
NM_001365276.2(TNXB):c.4657C>T (p.Pro1553Ser)
NM_001365276.2(TNXB):c.4664C>T (p.Ser1555Phe)
NM_001365276.2(TNXB):c.4694C>G (p.Pro1565Arg)
NM_001365276.2(TNXB):c.4711G>A (p.Ala1571Thr)
NM_001365276.2(TNXB):c.4736G>A (p.Arg1579His)
NM_001365276.2(TNXB):c.4768C>G (p.Pro1590Ala)
NM_001365276.2(TNXB):c.47T>C (p.Val16Ala)
NM_001365276.2(TNXB):c.4820T>C (p.Phe1607Ser)
NM_001365276.2(TNXB):c.4846G>A (p.Gly1616Arg)
NM_001365276.2(TNXB):c.4861G>A (p.Val1621Met) rs372387718
NM_001365276.2(TNXB):c.4867G>A (p.Val1623Met)
NM_001365276.2(TNXB):c.4883G>A (p.Arg1628Gln) rs778225485
NM_001365276.2(TNXB):c.4888G>T (p.Val1630Phe)
NM_001365276.2(TNXB):c.4918A>C (p.Lys1640Gln)
NM_001365276.2(TNXB):c.4918A>G (p.Lys1640Glu)
NM_001365276.2(TNXB):c.4926G>C (p.Lys1642Asn)
NM_001365276.2(TNXB):c.4958G>A (p.Arg1653Gln) rs772454700
NM_001365276.2(TNXB):c.4960C>T (p.Arg1654Cys)
NM_001365276.2(TNXB):c.4990+3G>A
NM_001365276.2(TNXB):c.4997G>A (p.Arg1666Gln)
NM_001365276.2(TNXB):c.4997G>T (p.Arg1666Leu)
NM_001365276.2(TNXB):c.5038C>A (p.Leu1680Met)
NM_001365276.2(TNXB):c.5047A>G (p.Thr1683Ala)
NM_001365276.2(TNXB):c.5050G>C (p.Asp1684His)
NM_001365276.2(TNXB):c.5071C>T (p.Arg1691Cys)
NM_001365276.2(TNXB):c.5085G>A (p.Thr1695=)
NM_001365276.2(TNXB):c.508C>A (p.Pro170Thr)
NM_001365276.2(TNXB):c.5103C>A (p.Phe1701Leu) rs201360247
NM_001365276.2(TNXB):c.5121G>T (p.Gln1707His)
NM_001365276.2(TNXB):c.5124C>G (p.Phe1708Leu)
NM_001365276.2(TNXB):c.5146G>C (p.Val1716Leu)
NM_001365276.2(TNXB):c.5173T>C (p.Ser1725Pro)
NM_001365276.2(TNXB):c.5197G>A (p.Ala1733Thr)
NM_001365276.2(TNXB):c.5203C>T (p.Arg1735Cys)
NM_001365276.2(TNXB):c.5204G>A (p.Arg1735His)
NM_001365276.2(TNXB):c.5237G>A (p.Gly1746Asp)
NM_001365276.2(TNXB):c.5244G>T (p.Lys1748Asn)
NM_001365276.2(TNXB):c.5252G>A (p.Gly1751Asp)
NM_001365276.2(TNXB):c.5284C>T (p.Arg1762Trp)
NM_001365276.2(TNXB):c.5291C>T (p.Ala1764Val)
NM_001365276.2(TNXB):c.5299G>T (p.Asp1767Tyr)
NM_001365276.2(TNXB):c.5300A>G (p.Asp1767Gly)
NM_001365276.2(TNXB):c.5306G>A (p.Gly1769Glu)
NM_001365276.2(TNXB):c.5362A>T (p.Thr1788Ser)
NM_001365276.2(TNXB):c.5377G>A (p.Gly1793Ser)
NM_001365276.2(TNXB):c.5449C>T (p.Pro1817Ser)
NM_001365276.2(TNXB):c.5479A>G (p.Arg1827Gly)
NM_001365276.2(TNXB):c.5509G>T (p.Ala1837Ser)
NM_001365276.2(TNXB):c.5546A>G (p.His1849Arg)
NM_001365276.2(TNXB):c.5578G>A (p.Ala1860Thr)
NM_001365276.2(TNXB):c.5625G>T (p.Pro1875=)
NM_001365276.2(TNXB):c.5653G>A (p.Gly1885Arg)
NM_001365276.2(TNXB):c.5653G>C (p.Gly1885Arg)
NM_001365276.2(TNXB):c.5660T>C (p.Leu1887Ser)
NM_001365276.2(TNXB):c.5671G>A (p.Glu1891Lys)
NM_001365276.2(TNXB):c.5678C>T (p.Thr1893Met)
NM_001365276.2(TNXB):c.5694T>G (p.His1898Gln)
NM_001365276.2(TNXB):c.5723T>A (p.Phe1908Tyr) rs1030656217
NM_001365276.2(TNXB):c.5734G>A (p.Glu1912Lys)
NM_001365276.2(TNXB):c.5752A>G (p.Arg1918Gly)
NM_001365276.2(TNXB):c.5758G>A (p.Gly1920Arg)
NM_001365276.2(TNXB):c.575A>G (p.Asn192Ser)
NM_001365276.2(TNXB):c.5777G>A (p.Arg1926His)
NM_001365276.2(TNXB):c.5791C>T (p.Arg1931Trp)
NM_001365276.2(TNXB):c.5824G>A (p.Asp1942Asn)
NM_001365276.2(TNXB):c.5872G>T (p.Val1958Leu)
NM_001365276.2(TNXB):c.5914G>C (p.Glu1972Gln)
NM_001365276.2(TNXB):c.5927A>T (p.Glu1976Val)
NM_001365276.2(TNXB):c.5932C>A (p.Pro1978Thr)
NM_001365276.2(TNXB):c.5947G>A (p.Glu1983Lys)
NM_001365276.2(TNXB):c.5947G>C (p.Glu1983Gln)
NM_001365276.2(TNXB):c.5981C>T (p.Thr1994Ile)
NM_001365276.2(TNXB):c.5989G>C (p.Asp1997His)
NM_001365276.2(TNXB):c.6001G>C (p.Asp2001His)
NM_001365276.2(TNXB):c.6007C>T (p.Leu2003Phe)
NM_001365276.2(TNXB):c.6035G>C (p.Gly2012Ala)
NM_001365276.2(TNXB):c.6100C>T (p.Pro2034Ser)
NM_001365276.2(TNXB):c.6116G>C (p.Gly2039Ala)
NM_001365276.2(TNXB):c.6131G>T (p.Gly2044Val)
NM_001365276.2(TNXB):c.6139C>T (p.Pro2047Ser)
NM_001365276.2(TNXB):c.6169G>A (p.Gly2057Ser)
NM_001365276.2(TNXB):c.6178G>A (p.Gly2060Ser)
NM_001365276.2(TNXB):c.6188G>T (p.Arg2063Leu)
NM_001365276.2(TNXB):c.6192G>A (p.Met2064Ile)
NM_001365276.2(TNXB):c.6211G>C (p.Gly2071Arg)
NM_001365276.2(TNXB):c.6214G>T (p.Val2072Leu)
NM_001365276.2(TNXB):c.6223G>A (p.Ala2075Thr)
NM_001365276.2(TNXB):c.6252A>T (p.Glu2084Asp)
NM_001365276.2(TNXB):c.6274C>G (p.Pro2092Ala)
NM_001365276.2(TNXB):c.6277G>A (p.Ala2093Thr)
NM_001365276.2(TNXB):c.6287C>A (p.Pro2096Gln)
NM_001365276.2(TNXB):c.6287C>T (p.Pro2096Leu) rs534135812
NM_001365276.2(TNXB):c.6296G>A (p.Gly2099Glu)
NM_001365276.2(TNXB):c.6322C>T (p.Pro2108Ser)
NM_001365276.2(TNXB):c.6329C>T (p.Ser2110Leu)
NM_001365276.2(TNXB):c.6359G>A (p.Gly2120Asp)
NM_001365276.2(TNXB):c.6371C>T (p.Ser2124Phe)
NM_001365276.2(TNXB):c.6380T>G (p.Val2127Gly)
NM_001365276.2(TNXB):c.6395G>A (p.Arg2132Lys)
NM_001365276.2(TNXB):c.6403C>T (p.Arg2135Trp)
NM_001365276.2(TNXB):c.6404G>A (p.Arg2135Gln)
NM_001365276.2(TNXB):c.6419G>A (p.Arg2140His)
NM_001365276.2(TNXB):c.6426_6428del (p.Gly2143del)
NM_001365276.2(TNXB):c.6433G>A (p.Glu2145Lys)
NM_001365276.2(TNXB):c.6446C>G (p.Thr2149Ser)
NM_001365276.2(TNXB):c.6448G>A (p.Val2150Met)
NM_001365276.2(TNXB):c.6455G>A (p.Gly2152Asp)
NM_001365276.2(TNXB):c.6470G>T (p.Arg2157Leu)
NM_001365276.2(TNXB):c.6493G>A (p.Gly2165Ser)
NM_001365276.2(TNXB):c.6503A>C (p.Glu2168Ala)
NM_001365276.2(TNXB):c.6505G>C (p.Gly2169Arg)
NM_001365276.2(TNXB):c.6518G>C (p.Gly2173Ala)
NM_001365276.2(TNXB):c.6524T>C (p.Val2175Ala)
NM_001365276.2(TNXB):c.6580A>C (p.Lys2194Gln)
NM_001365276.2(TNXB):c.6616A>G (p.Thr2206Ala)
NM_001365276.2(TNXB):c.6622G>A (p.Asp2208Asn)
NM_001365276.2(TNXB):c.6632G>C (p.Ser2211Thr)
NM_001365276.2(TNXB):c.6644C>A (p.Thr2215Lys)
NM_001365276.2(TNXB):c.6668A>G (p.His2223Arg)
NM_001365276.2(TNXB):c.6675G>C (p.Leu2225Phe)
NM_001365276.2(TNXB):c.6697G>C (p.Gly2233Arg)
NM_001365276.2(TNXB):c.6715C>T (p.Arg2239Trp)
NM_001365276.2(TNXB):c.6716G>A (p.Arg2239Gln)
NM_001365276.2(TNXB):c.6716G>T (p.Arg2239Leu)
NM_001365276.2(TNXB):c.674G>A (p.Arg225His)
NM_001365276.2(TNXB):c.6767A>T (p.His2256Leu)
NM_001365276.2(TNXB):c.6779T>A (p.Met2260Lys)
NM_001365276.2(TNXB):c.677G>A (p.Gly226Glu)
NM_001365276.2(TNXB):c.6799G>A (p.Gly2267Ser)
NM_001365276.2(TNXB):c.679C>T (p.Arg227Cys)
NM_001365276.2(TNXB):c.6820G>A (p.Val2274Met)
NM_001365276.2(TNXB):c.6833G>T (p.Gly2278Val) rs1016095149
NM_001365276.2(TNXB):c.6853G>A (p.Asp2285Asn)
NM_001365276.2(TNXB):c.6887C>T (p.Pro2296Leu)
NM_001365276.2(TNXB):c.6895G>C (p.Glu2299Gln)
NM_001365276.2(TNXB):c.6913C>T (p.Arg2305Cys)
NM_001365276.2(TNXB):c.6914G>A (p.Arg2305His)
NM_001365276.2(TNXB):c.6928A>G (p.Thr2310Ala)
NM_001365276.2(TNXB):c.6929C>T (p.Thr2310Ile)
NM_001365276.2(TNXB):c.6931G>T (p.Val2311Leu)
NM_001365276.2(TNXB):c.694G>A (p.Val232Met)
NM_001365276.2(TNXB):c.6952T>A (p.Ser2318Thr)
NM_001365276.2(TNXB):c.6971C>T (p.Thr2324Met)
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile) rs140304758
NM_001365276.2(TNXB):c.6973G>T (p.Val2325Phe)
NM_001365276.2(TNXB):c.7019G>A (p.Gly2340Glu)
NM_001365276.2(TNXB):c.7042C>T (p.Arg2348Trp)
NM_001365276.2(TNXB):c.7043G>A (p.Arg2348Gln)
NM_001365276.2(TNXB):c.7061A>G (p.Asp2354Gly)
NM_001365276.2(TNXB):c.7078G>A (p.Gly2360Ser)
NM_001365276.2(TNXB):c.7088C>G (p.Pro2363Arg)
NM_001365276.2(TNXB):c.7096A>G (p.Lys2366Glu)
NM_001365276.2(TNXB):c.7102A>G (p.Lys2368Glu)
NM_001365276.2(TNXB):c.7111C>G (p.Leu2371Val)
NM_001365276.2(TNXB):c.7124A>C (p.His2375Pro)
NM_001365276.2(TNXB):c.7136G>A (p.Arg2379His)
NM_001365276.2(TNXB):c.7150T>A (p.Ser2384Thr)
NM_001365276.2(TNXB):c.7168+1G>T rs748759848
NM_001365276.2(TNXB):c.7169C>T (p.Ala2390Val)
NM_001365276.2(TNXB):c.7186C>T (p.Pro2396Ser)
NM_001365276.2(TNXB):c.7187C>G (p.Pro2396Arg)
NM_001365276.2(TNXB):c.7243G>C (p.Gly2415Arg)
NM_001365276.2(TNXB):c.7251_7253delinsGAT (p.Thr2418Ile)
NM_001365276.2(TNXB):c.7259C>T (p.Thr2420Ile)
NM_001365276.2(TNXB):c.7277C>T (p.Ser2426Leu)
NM_001365276.2(TNXB):c.7307G>A (p.Gly2436Asp)
NM_001365276.2(TNXB):c.7325C>T (p.Thr2442Ile)
NM_001365276.2(TNXB):c.7327G>A (p.Val2443Met)
NM_001365276.2(TNXB):c.7347C>G (p.Asp2449Glu)
NM_001365276.2(TNXB):c.7348G>A (p.Gly2450Arg)
NM_001365276.2(TNXB):c.7354C>T (p.Pro2452Ser)
NM_001365276.2(TNXB):c.735C>G (p.Ser245Arg)
NM_001365276.2(TNXB):c.7366C>T (p.Arg2456Cys)
NM_001365276.2(TNXB):c.7367G>A (p.Arg2456His)
NM_001365276.2(TNXB):c.7372G>A (p.Gly2458Arg)
NM_001365276.2(TNXB):c.7378G>A (p.Glu2460Lys)
NM_001365276.2(TNXB):c.7396G>C (p.Val2466Leu)
NM_001365276.2(TNXB):c.7399G>A (p.Gly2467Arg)
NM_001365276.2(TNXB):c.7403G>T (p.Gly2468Val)
NM_001365276.2(TNXB):c.7418G>T (p.Arg2473Leu)
NM_001365276.2(TNXB):c.7428G>T (p.Lys2476Asn)
NM_001365276.2(TNXB):c.7447C>T (p.His2483Tyr)
NM_001365276.2(TNXB):c.7456C>T (p.Arg2486Trp) rs752650618
NM_001365276.2(TNXB):c.7462G>C (p.Val2488Leu)
NM_001365276.2(TNXB):c.748C>T (p.Pro250Ser)
NM_001365276.2(TNXB):c.7492+1G>A
NM_001365276.2(TNXB):c.7493C>T (p.Ala2498Val)
NM_001365276.2(TNXB):c.7525C>T (p.Pro2509Ser)
NM_001365276.2(TNXB):c.7529C>T (p.Thr2510Ile)
NM_001365276.2(TNXB):c.7534C>G (p.Pro2512Ala)
NM_001365276.2(TNXB):c.7561G>C (p.Glu2521Gln)
NM_001365276.2(TNXB):c.7595G>A (p.Gly2532Glu)
NM_001365276.2(TNXB):c.7610C>T (p.Ser2537Leu)
NM_001365276.2(TNXB):c.7630G>A (p.Val2544Ile)
NM_001365276.2(TNXB):c.7651T>G (p.Ser2551Ala)
NM_001365276.2(TNXB):c.7660G>A (p.Val2554Met)
NM_001365276.2(TNXB):c.7664A>C (p.Gln2555Pro)
NM_001365276.2(TNXB):c.7669A>G (p.Lys2557Glu)
NM_001365276.2(TNXB):c.7673A>T (p.Asp2558Val)
NM_001365276.2(TNXB):c.7696G>A (p.Val2566Met)
NM_001365276.2(TNXB):c.7718G>A (p.Ser2573Asn)
NM_001365276.2(TNXB):c.7751G>C (p.Arg2584Pro)
NM_001365276.2(TNXB):c.7787G>A (p.Gly2596Glu)
NM_001365276.2(TNXB):c.7828G>A (p.Asp2610Asn)
NM_001365276.2(TNXB):c.7837G>A (p.Glu2613Lys)
NM_001365276.2(TNXB):c.7858A>C (p.Thr2620Pro)
NM_001365276.2(TNXB):c.7870G>A (p.Glu2624Lys)
NM_001365276.2(TNXB):c.7876C>T (p.Pro2626Ser)
NM_001365276.2(TNXB):c.7876_7877delinsTT (p.Pro2626Phe) rs2151902012
NM_001365276.2(TNXB):c.7877C>T (p.Pro2626Leu)
NM_001365276.2(TNXB):c.7888C>T (p.Arg2630Cys)
NM_001365276.2(TNXB):c.7994G>A (p.Gly2665Glu)
NM_001365276.2(TNXB):c.8017C>T (p.Arg2673Trp)
NM_001365276.2(TNXB):c.8018G>A (p.Arg2673Gln)
NM_001365276.2(TNXB):c.8042T>A (p.Val2681Asp)
NM_001365276.2(TNXB):c.80C>T (p.Ser27Phe)
NM_001365276.2(TNXB):c.8110C>T (p.Arg2704Cys)
NM_001365276.2(TNXB):c.8113G>A (p.Val2705Met)
NM_001365276.2(TNXB):c.8150A>T (p.Glu2717Val)
NM_001365276.2(TNXB):c.8171C>T (p.Thr2724Met)
NM_001365276.2(TNXB):c.817GAC[1] (p.Asp274del)
NM_001365276.2(TNXB):c.8183C>T (p.Thr2728Ile)
NM_001365276.2(TNXB):c.8192C>A (p.Pro2731Gln)
NM_001365276.2(TNXB):c.8192C>T (p.Pro2731Leu) rs440160
NM_001365276.2(TNXB):c.8210C>T (p.Pro2737Leu)
NM_001365276.2(TNXB):c.8227A>G (p.Thr2743Ala)
NM_001365276.2(TNXB):c.8243C>T (p.Ser2748Phe)
NM_001365276.2(TNXB):c.8252C>G (p.Ser2751Trp)
NM_001365276.2(TNXB):c.8252C>T (p.Ser2751Leu)
NM_001365276.2(TNXB):c.8284C>T (p.His2762Tyr)
NM_001365276.2(TNXB):c.8285A>C (p.His2762Pro)
NM_001365276.2(TNXB):c.8289C>G (p.Phe2763Leu)
NM_001365276.2(TNXB):c.8302G>A (p.Val2768Met)
NM_001365276.2(TNXB):c.8321A>G (p.Asp2774Gly)
NM_001365276.2(TNXB):c.8323G>C (p.Gly2775Arg)
NM_001365276.2(TNXB):c.8326C>G (p.Arg2776Gly)
NM_001365276.2(TNXB):c.8336T>C (p.Val2779Ala)
NM_001365276.2(TNXB):c.8353G>A (p.Glu2785Lys) rs771584531
NM_001365276.2(TNXB):c.8357A>G (p.Glu2786Gly)
NM_001365276.2(TNXB):c.8366T>C (p.Val2789Ala)
NM_001365276.2(TNXB):c.8369C>T (p.Thr2790Ile)
NM_001365276.2(TNXB):c.8408A>C (p.His2803Pro)
NM_001365276.2(TNXB):c.8423A>G (p.His2808Arg)
NM_001365276.2(TNXB):c.8434C>T (p.Arg2812Cys)
NM_001365276.2(TNXB):c.8435G>A (p.Arg2812His)
NM_001365276.2(TNXB):c.8458G>T (p.Gly2820Cys)
NM_001365276.2(TNXB):c.8495A>T (p.Gln2832Leu)
NM_001365276.2(TNXB):c.8513C>A (p.Thr2838Asn)
NM_001365276.2(TNXB):c.8513C>T (p.Thr2838Ile)
NM_001365276.2(TNXB):c.8528A>G (p.Asn2843Ser)
NM_001365276.2(TNXB):c.8536C>T (p.Arg2846Cys)
NM_001365276.2(TNXB):c.8554G>A (p.Val2852Met)
NM_001365276.2(TNXB):c.8561A>G (p.Asp2854Gly)
NM_001365276.2(TNXB):c.8567C>T (p.Thr2856Ile)
NM_001365276.2(TNXB):c.8569C>T (p.Pro2857Ser)
NM_001365276.2(TNXB):c.8602G>A (p.Glu2868Lys)
NM_001365276.2(TNXB):c.8665C>T (p.Arg2889Trp)
NM_001365276.2(TNXB):c.8674G>C (p.Gly2892Arg)
NM_001365276.2(TNXB):c.8686G>A (p.Gly2896Arg)
NM_001365276.2(TNXB):c.8716C>T (p.His2906Tyr)
NM_001365276.2(TNXB):c.8748C>A (p.His2916Gln)
NM_001365276.2(TNXB):c.8749G>A (p.Gly2917Ser)
NM_001365276.2(TNXB):c.8758C>T (p.Arg2920Cys)
NM_001365276.2(TNXB):c.8759G>A (p.Arg2920His)
NM_001365276.2(TNXB):c.8764G>A (p.Gly2922Ser)
NM_001365276.2(TNXB):c.8780T>C (p.Ile2927Thr)
NM_001365276.2(TNXB):c.8791+1G>C
NM_001365276.2(TNXB):c.881G>A (p.Arg294His)
NM_001365276.2(TNXB):c.8825C>T (p.Pro2942Leu)
NM_001365276.2(TNXB):c.8831C>T (p.Thr2944Met)
NM_001365276.2(TNXB):c.8867G>A (p.Gly2956Glu)
NM_001365276.2(TNXB):c.886G>C (p.Val296Leu)
NM_001365276.2(TNXB):c.8921T>C (p.Ile2974Thr)
NM_001365276.2(TNXB):c.8938G>A (p.Asp2980Asn)
NM_001365276.2(TNXB):c.8951T>C (p.Val2984Ala)
NM_001365276.2(TNXB):c.8974C>T (p.Arg2992Trp)
NM_001365276.2(TNXB):c.8986G>A (p.Val2996Met)
NM_001365276.2(TNXB):c.8987T>C (p.Val2996Ala)
NM_001365276.2(TNXB):c.9005A>G (p.Glu3002Gly)
NM_001365276.2(TNXB):c.9007A>T (p.Ser3003Cys)
NM_001365276.2(TNXB):c.9035C>T (p.Pro3012Leu)
NM_001365276.2(TNXB):c.9037G>A (p.Gly3013Arg)
NM_001365276.2(TNXB):c.9056A>C (p.His3019Pro)
NM_001365276.2(TNXB):c.9073G>A (p.Glu3025Lys)
NM_001365276.2(TNXB):c.9077G>C (p.Gly3026Ala)
NM_001365276.2(TNXB):c.9085G>A (p.Val3029Met)
NM_001365276.2(TNXB):c.910G>A (p.Glu304Lys) rs907925140
NM_001365276.2(TNXB):c.9118C>G (p.Pro3040Ala)
NM_001365276.2(TNXB):c.9125A>G (p.Asp3042Gly)
NM_001365276.2(TNXB):c.9140C>T (p.Thr3047Ile)
NM_001365276.2(TNXB):c.9159G>A (p.Met3053Ile)
NM_001365276.2(TNXB):c.9161C>T (p.Thr3054Ile)
NM_001365276.2(TNXB):c.9164C>T (p.Pro3055Leu)
NM_001365276.2(TNXB):c.9169C>G (p.Pro3057Ala) rs542833871
NM_001365276.2(TNXB):c.9173C>T (p.Pro3058Leu)
NM_001365276.2(TNXB):c.919G>C (p.Gly307Arg)
NM_001365276.2(TNXB):c.9223T>A (p.Ser3075Thr)
NM_001365276.2(TNXB):c.9229A>C (p.Ser3077Arg)
NM_001365276.2(TNXB):c.9250G>A (p.Glu3084Lys)
NM_001365276.2(TNXB):c.9259T>C (p.Phe3087Leu)
NM_001365276.2(TNXB):c.9267C>G (p.His3089Gln)
NM_001365276.2(TNXB):c.9279G>A (p.Gln3093=)
NM_001365276.2(TNXB):c.9320C>T (p.Pro3107Leu)
NM_001365276.2(TNXB):c.9334G>A (p.Gly3112Arg)
NM_001365276.2(TNXB):c.935C>G (p.Pro312Arg)
NM_001365276.2(TNXB):c.935C>T (p.Pro312Leu) rs768599858
NM_001365276.2(TNXB):c.9366T>G (p.His3122Gln)
NM_001365276.2(TNXB):c.9388G>A (p.Gly3130Ser)
NM_001365276.2(TNXB):c.9389G>T (p.Gly3130Val)
NM_001365276.2(TNXB):c.9409G>A (p.Val3137Ile)
NM_001365276.2(TNXB):c.9428T>C (p.Ile3143Thr)
NM_001365276.2(TNXB):c.9476A>G (p.Glu3159Gly)
NM_001365276.2(TNXB):c.9520G>A (p.Val3174Met)
NM_001365276.2(TNXB):c.9526G>A (p.Gly3176Arg)
NM_001365276.2(TNXB):c.952C>T (p.Arg318Trp)
NM_001365276.2(TNXB):c.9535C>T (p.Pro3179Ser)
NM_001365276.2(TNXB):c.9542C>T (p.Ser3181Leu)
NM_001365276.2(TNXB):c.9550C>A (p.Leu3184Ile)
NM_001365276.2(TNXB):c.9556T>A (p.Trp3186Arg)
NM_001365276.2(TNXB):c.9566C>T (p.Pro3189Leu)
NM_001365276.2(TNXB):c.9574C>T (p.Arg3192Cys)
NM_001365276.2(TNXB):c.9592G>A (p.Val3198Met)
NM_001365276.2(TNXB):c.9598T>G (p.Tyr3200Asp)
NM_001365276.2(TNXB):c.959G>A (p.Arg320His)
NM_001365276.2(TNXB):c.9608G>A (p.Arg3203Lys)
NM_001365276.2(TNXB):c.9632G>A (p.Arg3211His) rs1304146232
NM_001365276.2(TNXB):c.9652G>A (p.Glu3218Lys)
NM_001365276.2(TNXB):c.9665G>A (p.Gly3222Glu)
NM_001365276.2(TNXB):c.9667G>T (p.Gly3223Cys)
NM_001365276.2(TNXB):c.9671T>C (p.Leu3224Pro)
NM_001365276.2(TNXB):c.9683G>A (p.Arg3228His)
NM_001365276.2(TNXB):c.9691A>C (p.Lys3231Gln)
NM_001365276.2(TNXB):c.9706G>A (p.Gly3236Ser)
NM_001365276.2(TNXB):c.9707G>A (p.Gly3236Asp)
NM_001365276.2(TNXB):c.9716A>T (p.Glu3239Val)
NM_001365276.2(TNXB):c.9736G>A (p.Val3246Met)
NM_001365276.2(TNXB):c.9745G>T (p.Val3249Leu)
NM_001365276.2(TNXB):c.9757+4A>G
NM_001365276.2(TNXB):c.9766C>T (p.Pro3256Ser)
NM_001365276.2(TNXB):c.9778C>G (p.Pro3260Ala)
NM_001365276.2(TNXB):c.9782T>C (p.Val3261Ala)
NM_001365276.2(TNXB):c.9790C>T (p.Arg3264Cys)
NM_001365276.2(TNXB):c.9791G>A (p.Arg3264His)
NM_001365276.2(TNXB):c.9806C>T (p.Ala3269Val)
NM_001365276.2(TNXB):c.9862C>T (p.Pro3288Ser)
NM_001365276.2(TNXB):c.988C>G (p.Pro330Ala)
NM_001365276.2(TNXB):c.9929G>C (p.Gly3310Ala)
NM_001365276.2(TNXB):c.9940G>A (p.Ala3314Thr)
NM_001365276.2(TNXB):c.9970C>A (p.Arg3324Ser)
NM_001365276.2(TNXB):c.9970C>T (p.Arg3324Cys) rs768943895
NM_001365276.2(TNXB):c.997A>C (p.Thr333Pro)
NM_001367624.2(ZNF469):c.-3G>A
NM_001367624.2(ZNF469):c.10000G>T (p.Asp3334Tyr)
NM_001367624.2(ZNF469):c.10003C>T (p.Pro3335Ser) rs1252058328
NM_001367624.2(ZNF469):c.10040C>A (p.Pro3347His)
NM_001367624.2(ZNF469):c.10112C>T (p.Pro3371Leu)
NM_001367624.2(ZNF469):c.10115G>A (p.Arg3372Gln)
NM_001367624.2(ZNF469):c.10130A>C (p.His3377Pro)
NM_001367624.2(ZNF469):c.10145C>G (p.Ala3382Gly)
NM_001367624.2(ZNF469):c.10178G>A (p.Arg3393Gln)
NM_001367624.2(ZNF469):c.10192C>T (p.His3398Tyr)
NM_001367624.2(ZNF469):c.10199C>A (p.Pro3400Gln)
NM_001367624.2(ZNF469):c.10199C>G (p.Pro3400Arg) rs281165933
NM_001367624.2(ZNF469):c.10199C>T (p.Pro3400Leu) rs281165933
NM_001367624.2(ZNF469):c.10286A>G (p.Lys3429Arg)
NM_001367624.2(ZNF469):c.10310T>A (p.Met3437Lys)
NM_001367624.2(ZNF469):c.10321C>G (p.Leu3441Val)
NM_001367624.2(ZNF469):c.10322_10351del (p.Leu3441_Phe3450del)
NM_001367624.2(ZNF469):c.10346C>G (p.Ala3449Gly)
NM_001367624.2(ZNF469):c.10390C>T (p.Arg3464Trp)
NM_001367624.2(ZNF469):c.10399G>A (p.Glu3467Lys)
NM_001367624.2(ZNF469):c.103C>G (p.Leu35Val)
NM_001367624.2(ZNF469):c.1040G>A (p.Arg347His)
NM_001367624.2(ZNF469):c.1040G>T (p.Arg347Leu)
NM_001367624.2(ZNF469):c.10418A>C (p.Lys3473Thr)
NM_001367624.2(ZNF469):c.10432G>A (p.Ala3478Thr)
NM_001367624.2(ZNF469):c.10436T>C (p.Met3479Thr)
NM_001367624.2(ZNF469):c.10437G>A (p.Met3479Ile)
NM_001367624.2(ZNF469):c.10472C>T (p.Pro3491Leu)
NM_001367624.2(ZNF469):c.10481G>C (p.Arg3494Pro) rs935936614
NM_001367624.2(ZNF469):c.1048G>T (p.Asp350Tyr)
NM_001367624.2(ZNF469):c.10505A>G (p.Glu3502Gly)
NM_001367624.2(ZNF469):c.10528C>T (p.His3510Tyr)
NM_001367624.2(ZNF469):c.10546G>T (p.Ala3516Ser)
NM_001367624.2(ZNF469):c.10558A>C (p.Thr3520Pro)
NM_001367624.2(ZNF469):c.10564G>A (p.Gly3522Arg)
NM_001367624.2(ZNF469):c.10589C>T (p.Pro3530Leu)
NM_001367624.2(ZNF469):c.10600G>A (p.Val3534Met)
NM_001367624.2(ZNF469):c.10649G>A (p.Cys3550Tyr)
NM_001367624.2(ZNF469):c.10655C>T (p.Pro3552Leu)
NM_001367624.2(ZNF469):c.10658C>T (p.Pro3553Leu)
NM_001367624.2(ZNF469):c.10693G>A (p.Gly3565Ser)
NM_001367624.2(ZNF469):c.10702G>T (p.Asp3568Tyr)
NM_001367624.2(ZNF469):c.10705T>G (p.Cys3569Gly)
NM_001367624.2(ZNF469):c.10709C>T (p.Ala3570Val)
NM_001367624.2(ZNF469):c.10724T>C (p.Leu3575Pro)
NM_001367624.2(ZNF469):c.10730G>T (p.Arg3577Met)
NM_001367624.2(ZNF469):c.10741G>A (p.Glu3581Lys)
NM_001367624.2(ZNF469):c.10748C>T (p.Ser3583Phe)
NM_001367624.2(ZNF469):c.10793G>A (p.Gly3598Glu)
NM_001367624.2(ZNF469):c.10807C>T (p.Arg3603Trp)
NM_001367624.2(ZNF469):c.1082C>T (p.Ala361Val)
NM_001367624.2(ZNF469):c.10843A>G (p.Arg3615Gly)
NM_001367624.2(ZNF469):c.10846G>A (p.Ala3616Thr)
NM_001367624.2(ZNF469):c.10849C>T (p.Pro3617Ser)
NM_001367624.2(ZNF469):c.10861T>C (p.Ser3621Pro)
NM_001367624.2(ZNF469):c.10870C>T (p.Arg3624Cys)
NM_001367624.2(ZNF469):c.10889G>T (p.Arg3630Leu)
NM_001367624.2(ZNF469):c.10922A>T (p.Asp3641Val)
NM_001367624.2(ZNF469):c.10942_10944del (p.Lys3648del)
NM_001367624.2(ZNF469):c.10961A>T (p.His3654Leu)
NM_001367624.2(ZNF469):c.10972_10973delinsC (p.Glu3658fs)
NM_001367624.2(ZNF469):c.10973A>C (p.Glu3658Ala)
NM_001367624.2(ZNF469):c.10978G>A (p.Gly3660Arg)
NM_001367624.2(ZNF469):c.10997A>G (p.His3666Arg)
NM_001367624.2(ZNF469):c.11020G>A (p.Ala3674Thr)
NM_001367624.2(ZNF469):c.11048G>A (p.Arg3683Lys)
NM_001367624.2(ZNF469):c.11050T>C (p.Ser3684Pro)
NM_001367624.2(ZNF469):c.11059T>A (p.Ser3687Thr)
NM_001367624.2(ZNF469):c.11066C>G (p.Pro3689Arg)
NM_001367624.2(ZNF469):c.1106C>G (p.Ser369Cys)
NM_001367624.2(ZNF469):c.11082G>T (p.Lys3694Asn)
NM_001367624.2(ZNF469):c.11105C>T (p.Ala3702Val)
NM_001367624.2(ZNF469):c.11125G>A (p.Gly3709Arg)
NM_001367624.2(ZNF469):c.11134G>C (p.Ala3712Pro) rs759634111
NM_001367624.2(ZNF469):c.11177C>T (p.Ala3726Val)
NM_001367624.2(ZNF469):c.11215C>T (p.Arg3739Cys)
NM_001367624.2(ZNF469):c.11261G>A (p.Ser3754Asn)
NM_001367624.2(ZNF469):c.11281A>G (p.Thr3761Ala) rs2142317382
NM_001367624.2(ZNF469):c.11284G>A (p.Ala3762Thr)
NM_001367624.2(ZNF469):c.11288C>G (p.Thr3763Ser)
NM_001367624.2(ZNF469):c.11317C>G (p.Arg3773Gly)
NM_001367624.2(ZNF469):c.11321G>A (p.Ser3774Asn)
NM_001367624.2(ZNF469):c.11329C>T (p.Pro3777Ser)
NM_001367624.2(ZNF469):c.11342C>A (p.Pro3781His)
NM_001367624.2(ZNF469):c.11378C>G (p.Pro3793Arg)
NM_001367624.2(ZNF469):c.11407G>A (p.Gly3803Arg)
NM_001367624.2(ZNF469):c.11411G>A (p.Ser3804Asn)
NM_001367624.2(ZNF469):c.11439C>G (p.Ser3813Arg)
NM_001367624.2(ZNF469):c.11473C>T (p.Pro3825Ser)
NM_001367624.2(ZNF469):c.11483G>A (p.Ser3828Asn)
NM_001367624.2(ZNF469):c.11494G>A (p.Gly3832Arg)
NM_001367624.2(ZNF469):c.1149A>T (p.Arg383Ser)
NM_001367624.2(ZNF469):c.11513C>T (p.Pro3838Leu)
NM_001367624.2(ZNF469):c.11515T>G (p.Ser3839Ala)
NM_001367624.2(ZNF469):c.11530C>G (p.Pro3844Ala)
NM_001367624.2(ZNF469):c.11534C>G (p.Pro3845Arg)
NM_001367624.2(ZNF469):c.11534C>T (p.Pro3845Leu)
NM_001367624.2(ZNF469):c.11536dup (p.Arg3846fs) rs1192814702
NM_001367624.2(ZNF469):c.11550G>T (p.Lys3850Asn)
NM_001367624.2(ZNF469):c.1159G>A (p.Ala387Thr)
NM_001367624.2(ZNF469):c.11604C>G (p.Asn3868Lys)
NM_001367624.2(ZNF469):c.11628G>T (p.Glu3876Asp)
NM_001367624.2(ZNF469):c.11629C>G (p.Gln3877Glu)
NM_001367624.2(ZNF469):c.11632C>G (p.Arg3878Gly)
NM_001367624.2(ZNF469):c.11632C>T (p.Arg3878Trp)
NM_001367624.2(ZNF469):c.1163A>G (p.Gln388Arg)
NM_001367624.2(ZNF469):c.11644C>G (p.Pro3882Ala)
NM_001367624.2(ZNF469):c.11654C>T (p.Thr3885Ile)
NM_001367624.2(ZNF469):c.11659A>T (p.Arg3887Trp)
NM_001367624.2(ZNF469):c.11675G>A (p.Gly3892Asp)
NM_001367624.2(ZNF469):c.11714C>T (p.Pro3905Leu)
NM_001367624.2(ZNF469):c.11756C>T (p.Pro3919Leu)
NM_001367624.2(ZNF469):c.11756_11757inv (p.Pro3919Leu)
NM_001367624.2(ZNF469):c.1175G>T (p.Gly392Val)
NM_001367624.2(ZNF469):c.11783A>T (p.Gln3928Leu)
NM_001367624.2(ZNF469):c.11804T>A (p.Leu3935His)
NM_001367624.2(ZNF469):c.1190C>A (p.Pro397His)
NM_001367624.2(ZNF469):c.1222G>A (p.Gly408Arg)
NM_001367624.2(ZNF469):c.1256G>C (p.Ser419Thr)
NM_001367624.2(ZNF469):c.1328C>T (p.Pro443Leu)
NM_001367624.2(ZNF469):c.1357G>T (p.Gly453Trp)
NM_001367624.2(ZNF469):c.1363C>A (p.Pro455Thr)
NM_001367624.2(ZNF469):c.136A>C (p.Lys46Gln)
NM_001367624.2(ZNF469):c.1424G>A (p.Cys475Tyr)
NM_001367624.2(ZNF469):c.1432C>G (p.Gln478Glu)
NM_001367624.2(ZNF469):c.1459G>C (p.Val487Leu)
NM_001367624.2(ZNF469):c.1466C>T (p.Pro489Leu)
NM_001367624.2(ZNF469):c.1474C>T (p.Arg492Trp)
NM_001367624.2(ZNF469):c.1488C>A (p.His496Gln)
NM_001367624.2(ZNF469):c.1499T>C (p.Met500Thr)
NM_001367624.2(ZNF469):c.1522G>T (p.Ala508Ser)
NM_001367624.2(ZNF469):c.1523C>T (p.Ala508Val)
NM_001367624.2(ZNF469):c.1528G>A (p.Gly510Ser) rs755555951
NM_001367624.2(ZNF469):c.1528_1529delinsAC (p.Gly510Thr) rs1555518716
NM_001367624.2(ZNF469):c.1534G>C (p.Glu512Gln)
NM_001367624.2(ZNF469):c.1550G>T (p.Ser517Ile)
NM_001367624.2(ZNF469):c.1558G>T (p.Ala520Ser)
NM_001367624.2(ZNF469):c.155G>A (p.Gly52Asp)
NM_001367624.2(ZNF469):c.157G>A (p.Gly53Ser)
NM_001367624.2(ZNF469):c.1583C>A (p.Pro528Gln)
NM_001367624.2(ZNF469):c.1624G>A (p.Gly542Ser)
NM_001367624.2(ZNF469):c.1631C>T (p.Ser544Phe)
NM_001367624.2(ZNF469):c.1667C>T (p.Pro556Leu)
NM_001367624.2(ZNF469):c.1678C>A (p.Pro560Thr)
NM_001367624.2(ZNF469):c.1679C>T (p.Pro560Leu)
NM_001367624.2(ZNF469):c.1687T>C (p.Phe563Leu)
NM_001367624.2(ZNF469):c.1691G>T (p.Gly564Val)
NM_001367624.2(ZNF469):c.1717C>A (p.His573Asn)
NM_001367624.2(ZNF469):c.1723A>C (p.Thr575Pro)
NM_001367624.2(ZNF469):c.1726C>A (p.Pro576Thr)
NM_001367624.2(ZNF469):c.1742C>T (p.Pro581Leu)
NM_001367624.2(ZNF469):c.1763C>G (p.Pro588Arg) rs916979861
NM_001367624.2(ZNF469):c.1763C>T (p.Pro588Leu)
NM_001367624.2(ZNF469):c.1775C>T (p.Pro592Leu)
NM_001367624.2(ZNF469):c.1775_1776delinsGG (p.Pro592Arg)
NM_001367624.2(ZNF469):c.1823T>C (p.Leu608Pro)
NM_001367624.2(ZNF469):c.184G>A (p.Glu62Lys)
NM_001367624.2(ZNF469):c.1856G>A (p.Ser619Asn)
NM_001367624.2(ZNF469):c.185A>T (p.Glu62Val)
NM_001367624.2(ZNF469):c.1867A>G (p.Ser623Gly)
NM_001367624.2(ZNF469):c.1870C>G (p.Gln624Glu)
NM_001367624.2(ZNF469):c.1874T>G (p.Leu625Arg)
NM_001367624.2(ZNF469):c.1885C>T (p.Leu629Phe)
NM_001367624.2(ZNF469):c.1888G>A (p.Gly630Arg)
NM_001367624.2(ZNF469):c.1907A>C (p.His636Pro)
NM_001367624.2(ZNF469):c.191A>T (p.Gln64Leu)
NM_001367624.2(ZNF469):c.1927G>A (p.Glu643Lys)
NM_001367624.2(ZNF469):c.193C>A (p.Pro65Thr)
NM_001367624.2(ZNF469):c.1943T>G (p.Phe648Cys)
NM_001367624.2(ZNF469):c.1946C>A (p.Pro649Gln)
NM_001367624.2(ZNF469):c.1952C>T (p.Pro651Leu)
NM_001367624.2(ZNF469):c.1958C>A (p.Pro653His)
NM_001367624.2(ZNF469):c.1958C>T (p.Pro653Leu)
NM_001367624.2(ZNF469):c.198G>T (p.Arg66Ser)
NM_001367624.2(ZNF469):c.200A>G (p.Gln67Arg)
NM_001367624.2(ZNF469):c.2087A>G (p.Glu696Gly)
NM_001367624.2(ZNF469):c.2095C>T (p.Arg699Trp)
NM_001367624.2(ZNF469):c.2102G>A (p.Gly701Glu)
NM_001367624.2(ZNF469):c.2128C>T (p.Pro710Ser)
NM_001367624.2(ZNF469):c.2132C>T (p.Pro711Leu)
NM_001367624.2(ZNF469):c.2143CAC[1] (p.His716del) rs1256206256
NM_001367624.2(ZNF469):c.2168G>A (p.Ser723Asn)
NM_001367624.2(ZNF469):c.2168G>T (p.Ser723Ile)
NM_001367624.2(ZNF469):c.2170C>G (p.Leu724Val)
NM_001367624.2(ZNF469):c.2209G>T (p.Asp737Tyr)
NM_001367624.2(ZNF469):c.2222G>A (p.Ser741Asn)
NM_001367624.2(ZNF469):c.223C>A (p.Pro75Thr)
NM_001367624.2(ZNF469):c.2242G>T (p.Ala748Ser)
NM_001367624.2(ZNF469):c.2266C>T (p.Leu756Phe)
NM_001367624.2(ZNF469):c.226C>G (p.Pro76Ala)
NM_001367624.2(ZNF469):c.2350G>C (p.Ala784Pro)
NM_001367624.2(ZNF469):c.2389T>C (p.Phe797Leu)
NM_001367624.2(ZNF469):c.2407G>A (p.Ala803Thr)
NM_001367624.2(ZNF469):c.2416G>C (p.Glu806Gln)
NM_001367624.2(ZNF469):c.2419G>A (p.Gly807Ser)
NM_001367624.2(ZNF469):c.2427C>A (p.Asp809Glu)
NM_001367624.2(ZNF469):c.2431C>T (p.Pro811Ser)
NM_001367624.2(ZNF469):c.2453C>G (p.Pro818Arg)
NM_001367624.2(ZNF469):c.2461G>A (p.Ala821Thr)
NM_001367624.2(ZNF469):c.2471C>A (p.Pro824His)
NM_001367624.2(ZNF469):c.2489C>G (p.Ser830Trp)
NM_001367624.2(ZNF469):c.2493C>A (p.Asp831Glu)
NM_001367624.2(ZNF469):c.2511C>G (p.Asp837Glu)
NM_001367624.2(ZNF469):c.2513C>G (p.Ala838Gly)
NM_001367624.2(ZNF469):c.2553G>A (p.Met851Ile)
NM_001367624.2(ZNF469):c.2561A>G (p.Gln854Arg)
NM_001367624.2(ZNF469):c.2569A>G (p.Asn857Asp) rs1555518955
NM_001367624.2(ZNF469):c.2581G>C (p.Asp861His) rs1342379077
NM_001367624.2(ZNF469):c.2587A>T (p.Ser863Cys)
NM_001367624.2(ZNF469):c.2617C>G (p.Pro873Ala)
NM_001367624.2(ZNF469):c.2632G>A (p.Gly878Ser)
NM_001367624.2(ZNF469):c.2639G>C (p.Ser880Thr)
NM_001367624.2(ZNF469):c.263G>A (p.Gly88Glu)
NM_001367624.2(ZNF469):c.2644G>A (p.Gly882Arg)
NM_001367624.2(ZNF469):c.2645G>A (p.Gly882Glu)
NM_001367624.2(ZNF469):c.2669G>C (p.Gly890Ala)
NM_001367624.2(ZNF469):c.2671G>A (p.Val891Met)
NM_001367624.2(ZNF469):c.2704C>G (p.Pro902Ala)
NM_001367624.2(ZNF469):c.2729C>T (p.Thr910Ile)
NM_001367624.2(ZNF469):c.272G>T (p.Gly91Val)
NM_001367624.2(ZNF469):c.2734C>A (p.Arg912Ser)
NM_001367624.2(ZNF469):c.2738C>T (p.Pro913Leu)
NM_001367624.2(ZNF469):c.2740G>A (p.Gly914Arg)
NM_001367624.2(ZNF469):c.2741G>A (p.Gly914Glu)
NM_001367624.2(ZNF469):c.2743G>A (p.Asp915Asn)
NM_001367624.2(ZNF469):c.2775A>T (p.Lys925Asn)
NM_001367624.2(ZNF469):c.2779C>A (p.Arg927Ser)
NM_001367624.2(ZNF469):c.2788G>C (p.Gly930Arg)
NM_001367624.2(ZNF469):c.2807C>T (p.Ala936Val)
NM_001367624.2(ZNF469):c.2809G>A (p.Asp937Asn)
NM_001367624.2(ZNF469):c.2837G>C (p.Arg946Thr)
NM_001367624.2(ZNF469):c.2849A>T (p.Gln950Leu)
NM_001367624.2(ZNF469):c.2854A>C (p.Lys952Gln)
NM_001367624.2(ZNF469):c.2885G>A (p.Gly962Asp)
NM_001367624.2(ZNF469):c.2891C>T (p.Ala964Val) rs2142302650
NM_001367624.2(ZNF469):c.2894A>G (p.Glu965Gly)
NM_001367624.2(ZNF469):c.2898GTCGGG[1] (p.967SG[1]) rs281865147
NM_001367624.2(ZNF469):c.2899T>G (p.Ser967Ala)
NM_001367624.2(ZNF469):c.2911G>A (p.Gly971Ser)
NM_001367624.2(ZNF469):c.2914G>A (p.Gly972Ser)
NM_001367624.2(ZNF469):c.2924C>T (p.Ala975Val)
NM_001367624.2(ZNF469):c.2938C>T (p.Pro980Ser)
NM_001367624.2(ZNF469):c.2948ACG[1] (p.Asp984del) rs886052397
NM_001367624.2(ZNF469):c.2972_2973delinsGT (p.Pro991Arg)
NM_001367624.2(ZNF469):c.2978G>C (p.Arg993Pro)
NM_001367624.2(ZNF469):c.2983C>T (p.Arg995Trp)
NM_001367624.2(ZNF469):c.3002C>A (p.Ala1001Asp)
NM_001367624.2(ZNF469):c.3002C>T (p.Ala1001Val) rs1045848516
NM_001367624.2(ZNF469):c.3007G>A (p.Gly1003Arg)
NM_001367624.2(ZNF469):c.3046G>T (p.Ala1016Ser)
NM_001367624.2(ZNF469):c.3049G>A (p.Ala1017Thr)
NM_001367624.2(ZNF469):c.3063G>C (p.Glu1021Asp)
NM_001367624.2(ZNF469):c.3067C>A (p.Arg1023Ser)
NM_001367624.2(ZNF469):c.3067C>T (p.Arg1023Cys)
NM_001367624.2(ZNF469):c.3077G>C (p.Arg1026Pro)
NM_001367624.2(ZNF469):c.3092C>T (p.Pro1031Leu)
NM_001367624.2(ZNF469):c.3097A>G (p.Arg1033Gly)
NM_001367624.2(ZNF469):c.3103G>A (p.Asp1035Asn)
NM_001367624.2(ZNF469):c.3109A>G (p.Arg1037Gly)
NM_001367624.2(ZNF469):c.3110G>T (p.Arg1037Met)
NM_001367624.2(ZNF469):c.3122C>G (p.Ala1041Gly)
NM_001367624.2(ZNF469):c.3124C>T (p.Arg1042Trp)
NM_001367624.2(ZNF469):c.3131G>A (p.Gly1044Asp)
NM_001367624.2(ZNF469):c.3147G>C (p.Glu1049Asp)
NM_001367624.2(ZNF469):c.3164T>G (p.Val1055Gly)
NM_001367624.2(ZNF469):c.3172A>C (p.Lys1058Gln)
NM_001367624.2(ZNF469):c.3177C>G (p.Asn1059Lys)
NM_001367624.2(ZNF469):c.3183C>A (p.Arg1061=)
NM_001367624.2(ZNF469):c.3283G>A (p.Ala1095Thr) rs933945553
NM_001367624.2(ZNF469):c.3298_3306del (p.Glu1100_Glu1102del)
NM_001367624.2(ZNF469):c.3300G>C (p.Glu1100Asp)
NM_001367624.2(ZNF469):c.3343C>T (p.Arg1115Trp)
NM_001367624.2(ZNF469):c.3362G>A (p.Arg1121Lys)
NM_001367624.2(ZNF469):c.3379A>T (p.Thr1127Ser)
NM_001367624.2(ZNF469):c.3412C>T (p.Pro1138Ser)
NM_001367624.2(ZNF469):c.3421G>T (p.Ala1141Ser)
NM_001367624.2(ZNF469):c.3439G>A (p.Gly1147Ser)
NM_001367624.2(ZNF469):c.3442G>C (p.Gly1148Arg)
NM_001367624.2(ZNF469):c.3447C>A (p.Asp1149Glu)
NM_001367624.2(ZNF469):c.3471G>C (p.Glu1157Asp)
NM_001367624.2(ZNF469):c.3476G>A (p.Gly1159Asp)
NM_001367624.2(ZNF469):c.3488C>T (p.Pro1163Leu)
NM_001367624.2(ZNF469):c.3490G>A (p.Gly1164Ser)
NM_001367624.2(ZNF469):c.3496G>A (p.Gly1166Ser)
NM_001367624.2(ZNF469):c.3539C>T (p.Thr1180Met)
NM_001367624.2(ZNF469):c.3554G>C (p.Arg1185Thr)
NM_001367624.2(ZNF469):c.3581G>A (p.Arg1194His)
NM_001367624.2(ZNF469):c.3583C>G (p.Pro1195Ala)
NM_001367624.2(ZNF469):c.3584C>T (p.Pro1195Leu)
NM_001367624.2(ZNF469):c.3601G>A (p.Asp1201Asn)
NM_001367624.2(ZNF469):c.3605C>A (p.Pro1202His) rs1474024240
NM_001367624.2(ZNF469):c.3611A>G (p.Gln1204Arg) rs1597208940
NM_001367624.2(ZNF469):c.3613G>C (p.Val1205Leu)
NM_001367624.2(ZNF469):c.3613G>T (p.Val1205Phe)
NM_001367624.2(ZNF469):c.3641A>C (p.Glu1214Ala)
NM_001367624.2(ZNF469):c.3665C>T (p.Pro1222Leu)
NM_001367624.2(ZNF469):c.3667C>G (p.Gln1223Glu)
NM_001367624.2(ZNF469):c.3698A>G (p.Glu1233Gly)
NM_001367624.2(ZNF469):c.3706C>T (p.Pro1236Ser)
NM_001367624.2(ZNF469):c.3716C>G (p.Thr1239Arg)
NM_001367624.2(ZNF469):c.3755G>A (p.Cys1252Tyr)
NM_001367624.2(ZNF469):c.3769G>C (p.Gly1257Arg)
NM_001367624.2(ZNF469):c.380C>T (p.Ser127Leu)
NM_001367624.2(ZNF469):c.3854C>T (p.Ala1285Val)
NM_001367624.2(ZNF469):c.3856A>G (p.Asn1286Asp)
NM_001367624.2(ZNF469):c.3859A>G (p.Thr1287Ala)
NM_001367624.2(ZNF469):c.3887C>T (p.Pro1296Leu)
NM_001367624.2(ZNF469):c.3911G>A (p.Gly1304Asp)
NM_001367624.2(ZNF469):c.3920G>A (p.Gly1307Asp)
NM_001367624.2(ZNF469):c.3979T>C (p.Phe1327Leu)
NM_001367624.2(ZNF469):c.3985G>A (p.Ala1329Thr)
NM_001367624.2(ZNF469):c.3989C>T (p.Pro1330Leu)
NM_001367624.2(ZNF469):c.404A>G (p.Glu135Gly)
NM_001367624.2(ZNF469):c.4067C>A (p.Pro1356His)
NM_001367624.2(ZNF469):c.4096G>A (p.Val1366Ile)
NM_001367624.2(ZNF469):c.4102G>C (p.Val1368Leu)
NM_001367624.2(ZNF469):c.4114G>A (p.Gly1372Arg)
NM_001367624.2(ZNF469):c.4138C>T (p.His1380Tyr)
NM_001367624.2(ZNF469):c.4156G>A (p.Gly1386Arg)
NM_001367624.2(ZNF469):c.4202A>C (p.Lys1401Thr)
NM_001367624.2(ZNF469):c.4235G>C (p.Ser1412Thr)
NM_001367624.2(ZNF469):c.4240T>C (p.Cys1414Arg)
NM_001367624.2(ZNF469):c.4256G>A (p.Gly1419Asp)
NM_001367624.2(ZNF469):c.4276G>C (p.Glu1426Gln)
NM_001367624.2(ZNF469):c.4286T>A (p.Leu1429Gln)
NM_001367624.2(ZNF469):c.4292G>C (p.Arg1431Thr)
NM_001367624.2(ZNF469):c.4309G>A (p.Ala1437Thr)
NM_001367624.2(ZNF469):c.4310C>A (p.Ala1437Asp)
NM_001367624.2(ZNF469):c.4361C>T (p.Ser1454Phe)
NM_001367624.2(ZNF469):c.4379C>T (p.Pro1460Leu)
NM_001367624.2(ZNF469):c.4384G>A (p.Asp1462Asn)
NM_001367624.2(ZNF469):c.4393G>A (p.Asp1465Asn)
NM_001367624.2(ZNF469):c.4393G>T (p.Asp1465Tyr)
NM_001367624.2(ZNF469):c.4408G>T (p.Gly1470Cys)
NM_001367624.2(ZNF469):c.4418C>T (p.Ser1473Phe)
NM_001367624.2(ZNF469):c.4435G>A (p.Gly1479Ser)
NM_001367624.2(ZNF469):c.4442C>T (p.Pro1481Leu)
NM_001367624.2(ZNF469):c.4458C>A (p.Asp1486Glu)
NM_001367624.2(ZNF469):c.4478C>T (p.Pro1493Leu)
NM_001367624.2(ZNF469):c.448G>A (p.Val150Met)
NM_001367624.2(ZNF469):c.4525C>A (p.Pro1509Thr)
NM_001367624.2(ZNF469):c.455C>T (p.Thr152Ile)
NM_001367624.2(ZNF469):c.4570C>G (p.Leu1524Val)
NM_001367624.2(ZNF469):c.4577A>G (p.Lys1526Arg)
NM_001367624.2(ZNF469):c.4580C>T (p.Thr1527Met)
NM_001367624.2(ZNF469):c.4589C>T (p.Pro1530Leu)
NM_001367624.2(ZNF469):c.4594C>T (p.Arg1532Trp)
NM_001367624.2(ZNF469):c.4730G>A (p.Arg1577Lys)
NM_001367624.2(ZNF469):c.4731G>C (p.Arg1577Ser) rs1906243073
NM_001367624.2(ZNF469):c.4744C>G (p.Arg1582Gly)
NM_001367624.2(ZNF469):c.4745G>T (p.Arg1582Leu)
NM_001367624.2(ZNF469):c.475G>A (p.Gly159Arg)
NM_001367624.2(ZNF469):c.4761G>C (p.Glu1587Asp)
NM_001367624.2(ZNF469):c.476G>A (p.Gly159Glu)
NM_001367624.2(ZNF469):c.4813C>T (p.Pro1605Ser)
NM_001367624.2(ZNF469):c.4817C>T (p.Pro1606Leu)
NM_001367624.2(ZNF469):c.482C>T (p.Pro161Leu)
NM_001367624.2(ZNF469):c.4862C>T (p.Thr1621Met)
NM_001367624.2(ZNF469):c.4886G>A (p.Arg1629His)
NM_001367624.2(ZNF469):c.4888G>A (p.Val1630Ile)
NM_001367624.2(ZNF469):c.4888G>T (p.Val1630Phe)
NM_001367624.2(ZNF469):c.4900A>G (p.Thr1634Ala)
NM_001367624.2(ZNF469):c.4925C>T (p.Ser1642Leu)
NM_001367624.2(ZNF469):c.4939G>A (p.Val1647Met)
NM_001367624.2(ZNF469):c.4955G>A (p.Gly1652Glu)
NM_001367624.2(ZNF469):c.4958G>A (p.Arg1653Lys)
NM_001367624.2(ZNF469):c.4994A>G (p.His1665Arg)
NM_001367624.2(ZNF469):c.4997C>T (p.Pro1666Leu)
NM_001367624.2(ZNF469):c.49G>A (p.Asp17Asn)
NM_001367624.2(ZNF469):c.5002C>T (p.His1668Tyr)
NM_001367624.2(ZNF469):c.5021G>A (p.Cys1674Tyr)
NM_001367624.2(ZNF469):c.5027A>C (p.Gln1676Pro)
NM_001367624.2(ZNF469):c.5062A>G (p.Arg1688Gly)
NM_001367624.2(ZNF469):c.5105C>G (p.Ala1702Gly)
NM_001367624.2(ZNF469):c.5108C>G (p.Ser1703Cys)
NM_001367624.2(ZNF469):c.5126A>T (p.Gln1709Leu)
NM_001367624.2(ZNF469):c.5150C>T (p.Pro1717Leu)
NM_001367624.2(ZNF469):c.5165T>C (p.Leu1722Pro)
NM_001367624.2(ZNF469):c.524C>T (p.Ala175Val)
NM_001367624.2(ZNF469):c.5251A>G (p.Lys1751Glu)
NM_001367624.2(ZNF469):c.5287G>T (p.Asp1763Tyr)
NM_001367624.2(ZNF469):c.5324G>T (p.Gly1775Val)
NM_001367624.2(ZNF469):c.5342G>T (p.Gly1781Val)
NM_001367624.2(ZNF469):c.5345C>T (p.Thr1782Ile)
NM_001367624.2(ZNF469):c.5384C>G (p.Ala1795Gly) rs1013562167
NM_001367624.2(ZNF469):c.5392A>G (p.Ser1798Gly)
NM_001367624.2(ZNF469):c.5396C>T (p.Pro1799Leu)
NM_001367624.2(ZNF469):c.545G>A (p.Arg182Lys)
NM_001367624.2(ZNF469):c.5464C>A (p.Pro1822Thr)
NM_001367624.2(ZNF469):c.5500C>A (p.His1834Asn)
NM_001367624.2(ZNF469):c.5534C>T (p.Pro1845Leu)
NM_001367624.2(ZNF469):c.5539G>A (p.Ala1847Thr)
NM_001367624.2(ZNF469):c.5540C>T (p.Ala1847Val)
NM_001367624.2(ZNF469):c.5546G>T (p.Arg1849Met)
NM_001367624.2(ZNF469):c.5558A>G (p.Glu1853Gly)
NM_001367624.2(ZNF469):c.5584G>T (p.Ala1862Ser)
NM_001367624.2(ZNF469):c.559C>G (p.Pro187Ala)
NM_001367624.2(ZNF469):c.5609G>A (p.Gly1870Asp)
NM_001367624.2(ZNF469):c.5617G>A (p.Ala1873Thr)
NM_001367624.2(ZNF469):c.5660C>T (p.Thr1887Ile)
NM_001367624.2(ZNF469):c.5666C>T (p.Pro1889Leu)
NM_001367624.2(ZNF469):c.5690C>G (p.Ala1897Gly)
NM_001367624.2(ZNF469):c.5698C>G (p.Pro1900Ala) rs754730500
NM_001367624.2(ZNF469):c.5698C>T (p.Pro1900Ser) rs754730500
NM_001367624.2(ZNF469):c.5702C>G (p.Pro1901Arg)
NM_001367624.2(ZNF469):c.5705T>C (p.Ile1902Thr)
NM_001367624.2(ZNF469):c.570C>G (p.Ser190Arg)
NM_001367624.2(ZNF469):c.572T>C (p.Phe191Ser)
NM_001367624.2(ZNF469):c.5744G>A (p.Ser1915Asn)
NM_001367624.2(ZNF469):c.5749G>T (p.Asp1917Tyr)
NM_001367624.2(ZNF469):c.575C>T (p.Thr192Ile)
NM_001367624.2(ZNF469):c.5761G>A (p.Gly1921Ser)
NM_001367624.2(ZNF469):c.5770G>A (p.Glu1924Lys)
NM_001367624.2(ZNF469):c.5774T>G (p.Leu1925Arg)
NM_001367624.2(ZNF469):c.5779C>G (p.Pro1927Ala)
NM_001367624.2(ZNF469):c.577T>A (p.Ser193Thr)
NM_001367624.2(ZNF469):c.577_578delinsAA (p.Ser193Asn)
NM_001367624.2(ZNF469):c.5798C>T (p.Pro1933Leu)
NM_001367624.2(ZNF469):c.5807A>G (p.Asn1936Ser)
NM_001367624.2(ZNF469):c.584A>C (p.Asn195Thr)
NM_001367624.2(ZNF469):c.5855G>A (p.Cys1952Tyr)
NM_001367624.2(ZNF469):c.5857G>C (p.Gly1953Arg)
NM_001367624.2(ZNF469):c.586T>G (p.Tyr196Asp)
NM_001367624.2(ZNF469):c.5878G>T (p.Gly1960Trp)
NM_001367624.2(ZNF469):c.5882G>T (p.Gly1961Val)
NM_001367624.2(ZNF469):c.5891T>G (p.Val1964Gly)
NM_001367624.2(ZNF469):c.5906C>T (p.Ala1969Val)
NM_001367624.2(ZNF469):c.5912C>T (p.Ala1971Val) rs886052406
NM_001367624.2(ZNF469):c.5926G>T (p.Gly1976Trp)
NM_001367624.2(ZNF469):c.5955G>C (p.Leu1985Phe)
NM_001367624.2(ZNF469):c.5C>T (p.Pro2Leu)
NM_001367624.2(ZNF469):c.6014A>G (p.Asn2005Ser)
NM_001367624.2(ZNF469):c.6015C>A (p.Asn2005Lys)
NM_001367624.2(ZNF469):c.6019G>A (p.Val2007Met)
NM_001367624.2(ZNF469):c.602C>T (p.Ala201Val)
NM_001367624.2(ZNF469):c.6035C>T (p.Thr2012Met)
NM_001367624.2(ZNF469):c.6039C>A (p.Asp2013Glu)
NM_001367624.2(ZNF469):c.6047C>T (p.Ala2016Val)
NM_001367624.2(ZNF469):c.604A>C (p.Thr202Pro)
NM_001367624.2(ZNF469):c.6059C>G (p.Ala2020Gly)
NM_001367624.2(ZNF469):c.6100G>A (p.Val2034Ile)
NM_001367624.2(ZNF469):c.6115T>G (p.Cys2039Gly)
NM_001367624.2(ZNF469):c.6157G>A (p.Glu2053Lys)
NM_001367624.2(ZNF469):c.6163A>C (p.Thr2055Pro)
NM_001367624.2(ZNF469):c.6171C>A (p.Ser2057Arg)
NM_001367624.2(ZNF469):c.6178T>G (p.Ser2060Ala)
NM_001367624.2(ZNF469):c.6214G>A (p.Ala2072Thr)
NM_001367624.2(ZNF469):c.6272G>T (p.Gly2091Val)
NM_001367624.2(ZNF469):c.6274C>G (p.Leu2092Val)
NM_001367624.2(ZNF469):c.6283C>T (p.Pro2095Ser)
NM_001367624.2(ZNF469):c.6301G>A (p.Asp2101Asn)
NM_001367624.2(ZNF469):c.6314C>T (p.Pro2105Leu)
NM_001367624.2(ZNF469):c.6339C>G (p.Cys2113Trp)
NM_001367624.2(ZNF469):c.634C>A (p.Gln212Lys)
NM_001367624.2(ZNF469):c.637A>C (p.Ser213Arg)
NM_001367624.2(ZNF469):c.6398A>G (p.Glu2133Gly)
NM_001367624.2(ZNF469):c.6425C>T (p.Ala2142Val)
NM_001367624.2(ZNF469):c.6431G>A (p.Gly2144Asp)
NM_001367624.2(ZNF469):c.6436_6441dup (p.Gly2147_Gly2148insLeuGly) rs903153275
NM_001367624.2(ZNF469):c.6452C>T (p.Pro2151Leu)
NM_001367624.2(ZNF469):c.646A>C (p.Thr216Pro)
NM_001367624.2(ZNF469):c.6503G>A (p.Cys2168Tyr)
NM_001367624.2(ZNF469):c.6541G>A (p.Val2181Ile)
NM_001367624.2(ZNF469):c.6551C>T (p.Thr2184Met)
NM_001367624.2(ZNF469):c.6566C>T (p.Ala2189Val)
NM_001367624.2(ZNF469):c.6570_6572del (p.Glu2190del)
NM_001367624.2(ZNF469):c.6583G>T (p.Ala2195Ser)
NM_001367624.2(ZNF469):c.6587C>G (p.Pro2196Arg)
NM_001367624.2(ZNF469):c.6613G>A (p.Asp2205Asn)
NM_001367624.2(ZNF469):c.6613G>C (p.Asp2205His)
NM_001367624.2(ZNF469):c.6616C>G (p.Pro2206Ala)
NM_001367624.2(ZNF469):c.6616C>T (p.Pro2206Ser)
NM_001367624.2(ZNF469):c.6629T>G (p.Leu2210Arg)
NM_001367624.2(ZNF469):c.6632C>T (p.Ala2211Val)
NM_001367624.2(ZNF469):c.6671A>T (p.Asp2224Val)
NM_001367624.2(ZNF469):c.6673C>A (p.Pro2225Thr)
NM_001367624.2(ZNF469):c.6676T>G (p.Ser2226Ala)
NM_001367624.2(ZNF469):c.6688C>A (p.Pro2230Thr)
NM_001367624.2(ZNF469):c.6698T>C (p.Val2233Ala)
NM_001367624.2(ZNF469):c.6703G>A (p.Ala2235Thr)
NM_001367624.2(ZNF469):c.6710C>T (p.Thr2237Ile)
NM_001367624.2(ZNF469):c.6733C>A (p.Pro2245Thr)
NM_001367624.2(ZNF469):c.6739G>A (p.Asp2247Asn) rs371739743
NM_001367624.2(ZNF469):c.673C>G (p.Pro225Ala)
NM_001367624.2(ZNF469):c.6748T>G (p.Leu2250Val)
NM_001367624.2(ZNF469):c.6750A>C (p.Leu2250Phe)
NM_001367624.2(ZNF469):c.6761A>G (p.Glu2254Gly)
NM_001367624.2(ZNF469):c.6762G>T (p.Glu2254Asp)
NM_001367624.2(ZNF469):c.6763G>T (p.Asp2255Tyr)
NM_001367624.2(ZNF469):c.677A>C (p.Glu226Ala)
NM_001367624.2(ZNF469):c.6853G>T (p.Ala2285Ser)
NM_001367624.2(ZNF469):c.6857C>T (p.Thr2286Ile)
NM_001367624.2(ZNF469):c.6863T>C (p.Leu2288Pro)
NM_001367624.2(ZNF469):c.6888G>T (p.Glu2296Asp)
NM_001367624.2(ZNF469):c.6892C>A (p.Gln2298Lys)
NM_001367624.2(ZNF469):c.6925C>G (p.Gln2309Glu)
NM_001367624.2(ZNF469):c.6974G>A (p.Gly2325Asp)
NM_001367624.2(ZNF469):c.6978CTC[1] (p.Ser2328del) rs1215843229
NM_001367624.2(ZNF469):c.7036A>G (p.Thr2346Ala)
NM_001367624.2(ZNF469):c.7054C>G (p.Pro2352Ala)
NM_001367624.2(ZNF469):c.7069G>A (p.Gly2357Ser)
NM_001367624.2(ZNF469):c.709C>T (p.Pro237Ser)
NM_001367624.2(ZNF469):c.7110G>A (p.Met2370Ile)
NM_001367624.2(ZNF469):c.7117A>G (p.Ser2373Gly)
NM_001367624.2(ZNF469):c.7121G>A (p.Ser2374Asn)
NM_001367624.2(ZNF469):c.713C>T (p.Ala238Val)
NM_001367624.2(ZNF469):c.7183A>G (p.Arg2395Gly)
NM_001367624.2(ZNF469):c.7204G>C (p.Gly2402Arg)
NM_001367624.2(ZNF469):c.7215G>C (p.Leu2405Phe)
NM_001367624.2(ZNF469):c.7234A>C (p.Ser2412Arg)
NM_001367624.2(ZNF469):c.7241C>T (p.Thr2414Ile)
NM_001367624.2(ZNF469):c.7267C>T (p.Pro2423Ser)
NM_001367624.2(ZNF469):c.7268C>G (p.Pro2423Arg)
NM_001367624.2(ZNF469):c.7268C>T (p.Pro2423Leu)
NM_001367624.2(ZNF469):c.7276C>T (p.His2426Tyr)
NM_001367624.2(ZNF469):c.7301C>T (p.Pro2434Leu)
NM_001367624.2(ZNF469):c.730C>T (p.Pro244Ser)
NM_001367624.2(ZNF469):c.7316T>C (p.Leu2439Pro)
NM_001367624.2(ZNF469):c.7327G>C (p.Asp2443His)
NM_001367624.2(ZNF469):c.7338G>C (p.Gln2446His)
NM_001367624.2(ZNF469):c.7346G>T (p.Arg2449Leu)
NM_001367624.2(ZNF469):c.7349G>A (p.Gly2450Asp)
NM_001367624.2(ZNF469):c.7370C>A (p.Ser2457Tyr)
NM_001367624.2(ZNF469):c.7423G>A (p.Glu2475Lys)
NM_001367624.2(ZNF469):c.7426G>A (p.Val2476Ile)
NM_001367624.2(ZNF469):c.7478G>A (p.Arg2493Lys)
NM_001367624.2(ZNF469):c.7486C>T (p.Arg2496Trp)
NM_001367624.2(ZNF469):c.7501G>C (p.Ala2501Pro)
NM_001367624.2(ZNF469):c.7502C>T (p.Ala2501Val)
NM_001367624.2(ZNF469):c.7544C>T (p.Pro2515Leu)
NM_001367624.2(ZNF469):c.7589G>C (p.Ser2530Thr)
NM_001367624.2(ZNF469):c.7596G>C (p.Arg2532Ser)
NM_001367624.2(ZNF469):c.7615C>T (p.Pro2539Ser)
NM_001367624.2(ZNF469):c.7620T>G (p.Asn2540Lys)
NM_001367624.2(ZNF469):c.7628G>A (p.Arg2543Gln) rs771550262
NM_001367624.2(ZNF469):c.763C>T (p.Pro255Ser)
NM_001367624.2(ZNF469):c.764C>T (p.Pro255Leu)
NM_001367624.2(ZNF469):c.7657C>T (p.Pro2553Ser)
NM_001367624.2(ZNF469):c.7685T>G (p.Leu2562Arg)
NM_001367624.2(ZNF469):c.7705C>A (p.His2569Asn)
NM_001367624.2(ZNF469):c.772A>G (p.Ile258Val)
NM_001367624.2(ZNF469):c.776C>T (p.Pro259Leu)
NM_001367624.2(ZNF469):c.7790C>A (p.Ala2597Asp)
NM_001367624.2(ZNF469):c.7837C>G (p.Arg2613Gly)
NM_001367624.2(ZNF469):c.7864G>A (p.Asp2622Asn)
NM_001367624.2(ZNF469):c.7867_7868delinsAA (p.Ser2623Asn)
NM_001367624.2(ZNF469):c.7885G>A (p.Gly2629Arg)
NM_001367624.2(ZNF469):c.7897A>G (p.Lys2633Glu)
NM_001367624.2(ZNF469):c.790C>A (p.Pro264Thr) rs1905842865
NM_001367624.2(ZNF469):c.7931G>T (p.Arg2644Leu) rs281865152
NM_001367624.2(ZNF469):c.7936G>C (p.Glu2646Gln) rs1413197098
NM_001367624.2(ZNF469):c.7943T>C (p.Ile2648Thr)
NM_001367624.2(ZNF469):c.7976G>A (p.Gly2659Glu)
NM_001367624.2(ZNF469):c.7976G>C (p.Gly2659Ala)
NM_001367624.2(ZNF469):c.7976G>T (p.Gly2659Val)
NM_001367624.2(ZNF469):c.7993T>A (p.Ser2665Thr)
NM_001367624.2(ZNF469):c.8000C>T (p.Ala2667Val)
NM_001367624.2(ZNF469):c.8014G>A (p.Ala2672Thr)
NM_001367624.2(ZNF469):c.8021C>T (p.Ser2674Phe)
NM_001367624.2(ZNF469):c.8080C>G (p.Arg2694Gly)
NM_001367624.2(ZNF469):c.8081G>C (p.Arg2694Pro) rs889719149
NM_001367624.2(ZNF469):c.8081G>T (p.Arg2694Leu)
NM_001367624.2(ZNF469):c.8089A>G (p.Thr2697Ala)
NM_001367624.2(ZNF469):c.8098C>G (p.Pro2700Ala)
NM_001367624.2(ZNF469):c.812T>A (p.Val271Asp)
NM_001367624.2(ZNF469):c.8133G>C (p.Gln2711His)
NM_001367624.2(ZNF469):c.8149G>C (p.Gly2717Arg)
NM_001367624.2(ZNF469):c.8206G>A (p.Asp2736Asn)
NM_001367624.2(ZNF469):c.8219T>G (p.Leu2740Arg)
NM_001367624.2(ZNF469):c.8221G>A (p.Gly2741Arg)
NM_001367624.2(ZNF469):c.8222G>A (p.Gly2741Glu)
NM_001367624.2(ZNF469):c.8224G>A (p.Glu2742Lys)
NM_001367624.2(ZNF469):c.826C>G (p.Pro276Ala)
NM_001367624.2(ZNF469):c.8279A>G (p.Glu2760Gly)
NM_001367624.2(ZNF469):c.8285A>T (p.Lys2762Met)
NM_001367624.2(ZNF469):c.8302A>G (p.Lys2768Glu)
NM_001367624.2(ZNF469):c.8314A>T (p.Ser2772Cys)
NM_001367624.2(ZNF469):c.8317G>A (p.Glu2773Lys)
NM_001367624.2(ZNF469):c.8351G>A (p.Arg2784Gln)
NM_001367624.2(ZNF469):c.8366T>C (p.Val2789Ala)
NM_001367624.2(ZNF469):c.8378A>C (p.Asn2793Thr)
NM_001367624.2(ZNF469):c.844G>A (p.Gly282Arg)
NM_001367624.2(ZNF469):c.8471A>T (p.Asn2824Ile)
NM_001367624.2(ZNF469):c.847G>C (p.Ala283Pro)
NM_001367624.2(ZNF469):c.8488G>A (p.Gly2830Arg)
NM_001367624.2(ZNF469):c.8495A>C (p.Gln2832Pro)
NM_001367624.2(ZNF469):c.8501C>T (p.Pro2834Leu)
NM_001367624.2(ZNF469):c.8504A>G (p.Glu2835Gly)
NM_001367624.2(ZNF469):c.8531C>G (p.Ser2844Cys)
NM_001367624.2(ZNF469):c.8534G>T (p.Ser2845Ile)
NM_001367624.2(ZNF469):c.8546C>A (p.Pro2849His)
NM_001367624.2(ZNF469):c.8568G>T (p.Glu2856Asp)
NM_001367624.2(ZNF469):c.8573C>T (p.Ser2858Phe) rs975435621
NM_001367624.2(ZNF469):c.8579C>T (p.Ser2860Phe)
NM_001367624.2(ZNF469):c.8599G>T (p.Gly2867Cys)
NM_001367624.2(ZNF469):c.8629G>T (p.Val2877Phe)
NM_001367624.2(ZNF469):c.8635G>C (p.Gly2879Arg)
NM_001367624.2(ZNF469):c.8635G>T (p.Gly2879Trp)
NM_001367624.2(ZNF469):c.8642G>T (p.Arg2881Leu) rs142753357
NM_001367624.2(ZNF469):c.8682C>A (p.Ser2894Arg)
NM_001367624.2(ZNF469):c.8711G>A (p.Gly2904Asp)
NM_001367624.2(ZNF469):c.8719C>T (p.Arg2907Cys)
NM_001367624.2(ZNF469):c.8774C>A (p.Pro2925Gln)
NM_001367624.2(ZNF469):c.8776T>C (p.Trp2926Arg)
NM_001367624.2(ZNF469):c.8792C>G (p.Pro2931Arg)
NM_001367624.2(ZNF469):c.8795C>A (p.Ala2932Glu)
NM_001367624.2(ZNF469):c.8795_8796delinsAT (p.Ala2932Asp) rs2142312990
NM_001367624.2(ZNF469):c.8798G>A (p.Gly2933Asp)
NM_001367624.2(ZNF469):c.8803C>T (p.Pro2935Ser)
NM_001367624.2(ZNF469):c.8808G>T (p.Glu2936Asp)
NM_001367624.2(ZNF469):c.8810C>A (p.Ser2937Tyr)
NM_001367624.2(ZNF469):c.8842G>T (p.Val2948Leu)
NM_001367624.2(ZNF469):c.8854G>C (p.Asp2952His)
NM_001367624.2(ZNF469):c.8863G>T (p.Ala2955Ser)
NM_001367624.2(ZNF469):c.8870G>A (p.Gly2957Asp)
NM_001367624.2(ZNF469):c.8877C>G (p.Ser2959Arg)
NM_001367624.2(ZNF469):c.8944G>A (p.Asp2982Asn)
NM_001367624.2(ZNF469):c.8947C>T (p.Arg2983Trp)
NM_001367624.2(ZNF469):c.8959A>G (p.Ile2987Val)
NM_001367624.2(ZNF469):c.8974A>G (p.Met2992Val)
NM_001367624.2(ZNF469):c.8980C>G (p.Pro2994Ala)
NM_001367624.2(ZNF469):c.8989T>G (p.Trp2997Gly)
NM_001367624.2(ZNF469):c.8991G>T (p.Trp2997Cys)
NM_001367624.2(ZNF469):c.9016G>C (p.Ala3006Pro)
NM_001367624.2(ZNF469):c.9019G>T (p.Asp3007Tyr)
NM_001367624.2(ZNF469):c.9047T>A (p.Val3016Glu)
NM_001367624.2(ZNF469):c.904C>G (p.Leu302Val)
NM_001367624.2(ZNF469):c.9059C>T (p.Pro3020Leu)
NM_001367624.2(ZNF469):c.9071A>G (p.Glu3024Gly)
NM_001367624.2(ZNF469):c.9089G>C (p.Gly3030Ala)
NM_001367624.2(ZNF469):c.9101G>A (p.Gly3034Glu)
NM_001367624.2(ZNF469):c.9124C>G (p.Arg3042Gly)
NM_001367624.2(ZNF469):c.9127G>A (p.Ala3043Thr)
NM_001367624.2(ZNF469):c.9156G>C (p.Lys3052Asn)
NM_001367624.2(ZNF469):c.9169G>A (p.Asp3057Asn)
NM_001367624.2(ZNF469):c.9179T>G (p.Phe3060Cys)
NM_001367624.2(ZNF469):c.9206G>A (p.Gly3069Asp)
NM_001367624.2(ZNF469):c.920A>G (p.His307Arg)
NM_001367624.2(ZNF469):c.9212C>T (p.Pro3071Leu)
NM_001367624.2(ZNF469):c.9215G>A (p.Gly3072Asp)
NM_001367624.2(ZNF469):c.9242C>T (p.Thr3081Met)
NM_001367624.2(ZNF469):c.9245C>T (p.Ala3082Val) rs1015869921
NM_001367624.2(ZNF469):c.9247A>G (p.Ser3083Gly)
NM_001367624.2(ZNF469):c.925C>T (p.Pro309Ser)
NM_001367624.2(ZNF469):c.9338C>T (p.Ala3113Val)
NM_001367624.2(ZNF469):c.9344A>G (p.Tyr3115Cys)
NM_001367624.2(ZNF469):c.9347A>C (p.Lys3116Thr)
NM_001367624.2(ZNF469):c.9365A>G (p.Gln3122Arg)
NM_001367624.2(ZNF469):c.9368G>C (p.Arg3123Pro)
NM_001367624.2(ZNF469):c.9374G>A (p.Arg3125His)
NM_001367624.2(ZNF469):c.9377G>T (p.Ser3126Ile)
NM_001367624.2(ZNF469):c.9385G>A (p.Glu3129Lys)
NM_001367624.2(ZNF469):c.9398A>G (p.His3133Arg)
NM_001367624.2(ZNF469):c.9422C>T (p.Pro3141Leu)
NM_001367624.2(ZNF469):c.9446T>C (p.Val3149Ala)
NM_001367624.2(ZNF469):c.9458T>G (p.Phe3153Cys)
NM_001367624.2(ZNF469):c.9467G>C (p.Arg3156Pro)
NM_001367624.2(ZNF469):c.9473T>C (p.Leu3158Pro) rs1906626370
NM_001367624.2(ZNF469):c.9479G>T (p.Arg3160Leu)
NM_001367624.2(ZNF469):c.947A>C (p.Glu316Ala)
NM_001367624.2(ZNF469):c.9502G>C (p.Ala3168Pro)
NM_001367624.2(ZNF469):c.9514G>T (p.Ala3172Ser)
NM_001367624.2(ZNF469):c.9584G>A (p.Arg3195His) rs998090120
NM_001367624.2(ZNF469):c.9584G>T (p.Arg3195Leu)
NM_001367624.2(ZNF469):c.9586G>A (p.Glu3196Lys)
NM_001367624.2(ZNF469):c.9604G>A (p.Ala3202Thr)
NM_001367624.2(ZNF469):c.9612G>C (p.Arg3204Ser)
NM_001367624.2(ZNF469):c.9614G>A (p.Gly3205Glu)
NM_001367624.2(ZNF469):c.9619G>A (p.Ala3207Thr)
NM_001367624.2(ZNF469):c.9623G>A (p.Arg3208Gln)
NM_001367624.2(ZNF469):c.9649G>A (p.Gly3217Ser)
NM_001367624.2(ZNF469):c.9661A>G (p.Ser3221Gly)
NM_001367624.2(ZNF469):c.9701C>T (p.Pro3234Leu)
NM_001367624.2(ZNF469):c.9715C>T (p.His3239Tyr)
NM_001367624.2(ZNF469):c.9722G>T (p.Gly3241Val)
NM_001367624.2(ZNF469):c.9727_9741del (p.Arg3243_Lys3247del)
NM_001367624.2(ZNF469):c.9736G>A (p.Gly3246Ser)
NM_001367624.2(ZNF469):c.9745G>A (p.Ala3249Thr)
NM_001367624.2(ZNF469):c.9752G>A (p.Ser3251Asn)
NM_001367624.2(ZNF469):c.9755C>T (p.Pro3252Leu)
NM_001367624.2(ZNF469):c.9757G>A (p.Gly3253Arg)
NM_001367624.2(ZNF469):c.9775G>A (p.Glu3259Lys)
NM_001367624.2(ZNF469):c.9794A>G (p.Asp3265Gly)
NM_001367624.2(ZNF469):c.9812C>T (p.Ala3271Val)
NM_001367624.2(ZNF469):c.9820C>T (p.Arg3274Trp)
NM_001367624.2(ZNF469):c.9821G>A (p.Arg3274Gln)
NM_001367624.2(ZNF469):c.9827G>A (p.Arg3276His)
NM_001367624.2(ZNF469):c.9838A>C (p.Ser3280Arg)
NM_001367624.2(ZNF469):c.9845C>T (p.Pro3282Leu)
NM_001367624.2(ZNF469):c.9851G>A (p.Gly3284Glu)
NM_001367624.2(ZNF469):c.9859A>C (p.Thr3287Pro)
NM_001367624.2(ZNF469):c.9869G>A (p.Ser3290Asn)
NM_001367624.2(ZNF469):c.9935C>A (p.Ser3312Tyr)
NM_001367624.2(ZNF469):c.9941A>C (p.Asp3314Ala)
NM_001367624.2(ZNF469):c.9949G>C (p.Ala3317Pro)
NM_001367624.2(ZNF469):c.994C>A (p.Pro332Thr)
NM_001367624.2(ZNF469):c.9964C>T (p.Leu3322Phe)
NM_001367624.2(ZNF469):c.9985C>T (p.His3329Tyr)
NM_001371904.1(APOA5):c.1024G>A (p.Ala342Thr)
NM_001371904.1(APOA5):c.1044G>A (p.Trp348Ter)
NM_001371904.1(APOA5):c.122T>C (p.Val41Ala)
NM_001371904.1(APOA5):c.141G>T (p.Gln47His)
NM_001371904.1(APOA5):c.161+3G>A
NM_001371904.1(APOA5):c.196A>G (p.Asn66Asp)
NM_001371904.1(APOA5):c.272G>A (p.Gly91Asp)
NM_001371904.1(APOA5):c.294G>C (p.Glu98Asp)
NM_001371904.1(APOA5):c.317G>A (p.Arg106His)
NM_001371904.1(APOA5):c.332T>A (p.Met111Lys)
NM_001371904.1(APOA5):c.333G>A (p.Met111Ile)
NM_001371904.1(APOA5):c.333G>T (p.Met111Ile)
NM_001371904.1(APOA5):c.454C>T (p.Arg152Cys)
NM_001371904.1(APOA5):c.464G>A (p.Gly155Glu)
NM_001371904.1(APOA5):c.521A>G (p.Gln174Arg)
NM_001371904.1(APOA5):c.548A>T (p.His183Leu)
NM_001371904.1(APOA5):c.554G>A (p.Gly185Asp)
NM_001371904.1(APOA5):c.569T>C (p.Leu190Pro)
NM_001371904.1(APOA5):c.56C>T (p.Ser19Leu)
NM_001371904.1(APOA5):c.571T>A (p.Phe191Ile)
NM_001371904.1(APOA5):c.578_601del (p.Pro193_Gly201delinsArg)
NM_001371904.1(APOA5):c.586G>A (p.Glu196Lys)
NM_001371904.1(APOA5):c.595G>A (p.Val199Met)
NM_001371904.1(APOA5):c.615C>A (p.His205Gln)
NM_001371904.1(APOA5):c.615C>G (p.His205Gln)
NM_001371904.1(APOA5):c.641C>T (p.Ala214Val)
NM_001371904.1(APOA5):c.707C>A (p.Thr236Lys)
NM_001371904.1(APOA5):c.740A>G (p.Gln247Arg)
NM_001371904.1(APOA5):c.758T>C (p.Leu253Pro)
NM_001371904.1(APOA5):c.791C>A (p.Thr264Asn)
NM_001371904.1(APOA5):c.802G>A (p.Glu268Lys)
NM_001371904.1(APOA5):c.815C>T (p.Pro272Leu)
NM_001371904.1(APOA5):c.820C>A (p.Pro274Thr)
NM_001371904.1(APOA5):c.85G>A (p.Asp29Asn)
NM_001371904.1(APOA5):c.872A>T (p.Asp291Val)
NM_001371904.1(APOA5):c.874A>C (p.Thr292Pro)
NM_001371904.1(APOA5):c.889G>A (p.Ala297Thr)
NM_001371904.1(APOA5):c.901C>G (p.Arg301Gly)
NM_001371904.1(APOA5):c.902G>A (p.Arg301His)
NM_001371904.1(APOA5):c.916G>A (p.Glu306Lys)
NM_001371904.1(APOA5):c.919A>G (p.Thr307Ala)
NM_001371904.1(APOA5):c.932A>G (p.Gln311Arg)
NM_001371904.1(APOA5):c.949C>G (p.Pro317Ala)
NM_001378454.1(ALMS1):c.10004G>A (p.Gly3335Glu)
NM_001378454.1(ALMS1):c.10110T>G (p.Asp3370Glu)
NM_001378454.1(ALMS1):c.10130A>G (p.Lys3377Arg)
NM_001378454.1(ALMS1):c.10138G>A (p.Glu3380Lys)
NM_001378454.1(ALMS1):c.1016A>G (p.Tyr339Cys)
NM_001378454.1(ALMS1):c.10184A>G (p.Glu3395Gly)
NM_001378454.1(ALMS1):c.10207A>G (p.Thr3403Ala)
NM_001378454.1(ALMS1):c.10213+1G>A rs374681570
NM_001378454.1(ALMS1):c.10226C>G (p.Ala3409Gly)
NM_001378454.1(ALMS1):c.10269GAA[1] (p.Lys3424del) rs1184260245
NM_001378454.1(ALMS1):c.10284C>G (p.Asp3428Glu) rs2104063874
NM_001378454.1(ALMS1):c.10289A>G (p.Lys3430Arg)
NM_001378454.1(ALMS1):c.10375A>C (p.Asn3459His)
NM_001378454.1(ALMS1):c.10381G>A (p.Glu3461Lys)
NM_001378454.1(ALMS1):c.10415C>A (p.Thr3472Asn)
NM_001378454.1(ALMS1):c.10462G>C (p.Val3488Leu) rs1057523167
NM_001378454.1(ALMS1):c.10466A>G (p.His3489Arg)
NM_001378454.1(ALMS1):c.10483G>A (p.Asp3495Asn) rs533617405
NM_001378454.1(ALMS1):c.10534A>G (p.Lys3512Glu)
NM_001378454.1(ALMS1):c.10545T>G (p.Phe3515Leu)
NM_001378454.1(ALMS1):c.10546C>G (p.Gln3516Glu)
NM_001378454.1(ALMS1):c.10566T>G (p.His3522Gln)
NM_001378454.1(ALMS1):c.10625A>T (p.Tyr3542Phe)
NM_001378454.1(ALMS1):c.1064A>G (p.Gln355Arg)
NM_001378454.1(ALMS1):c.10652A>G (p.Asn3551Ser) rs868744829
NM_001378454.1(ALMS1):c.10670A>G (p.Lys3557Arg)
NM_001378454.1(ALMS1):c.10685C>T (p.Thr3562Ile)
NM_001378454.1(ALMS1):c.10721A>G (p.Asn3574Ser)
NM_001378454.1(ALMS1):c.1073A>T (p.Glu358Val)
NM_001378454.1(ALMS1):c.10750C>G (p.Gln3584Glu)
NM_001378454.1(ALMS1):c.10759A>G (p.Thr3587Ala)
NM_001378454.1(ALMS1):c.10772C>T (p.Thr3591Ile) rs773091397
NM_001378454.1(ALMS1):c.10792T>G (p.Leu3598Val)
NM_001378454.1(ALMS1):c.10868T>C (p.Leu3623Pro)
NM_001378454.1(ALMS1):c.10883G>C (p.Arg3628Pro)
NM_001378454.1(ALMS1):c.10886T>C (p.Leu3629Pro)
NM_001378454.1(ALMS1):c.10916C>T (p.Pro3639Leu)
NM_001378454.1(ALMS1):c.10930C>T (p.Leu3644Phe)
NM_001378454.1(ALMS1):c.1093G>T (p.Asp365Tyr) rs1229379546
NM_001378454.1(ALMS1):c.10946G>A (p.Ser3649Asn) rs2104105859
NM_001378454.1(ALMS1):c.10952A>G (p.His3651Arg) rs1294645835
NM_001378454.1(ALMS1):c.10952A>T (p.His3651Leu)
NM_001378454.1(ALMS1):c.10969G>C (p.Glu3657Gln)
NM_001378454.1(ALMS1):c.1097A>G (p.Gln366Arg) rs2103715685
NM_001378454.1(ALMS1):c.10994G>A (p.Gly3665Asp)
NM_001378454.1(ALMS1):c.11062A>G (p.Asn3688Asp)
NM_001378454.1(ALMS1):c.110T>G (p.Val37Gly)
NM_001378454.1(ALMS1):c.11112G>T (p.Gly3704=)
NM_001378454.1(ALMS1):c.11119A>C (p.Asn3707His) rs200464290
NM_001378454.1(ALMS1):c.11128A>C (p.Lys3710Gln)
NM_001378454.1(ALMS1):c.11140A>G (p.Ile3714Val) rs370536187
NM_001378454.1(ALMS1):c.11147T>A (p.Phe3716Tyr)
NM_001378454.1(ALMS1):c.11176G>T (p.Gly3726Cys)
NM_001378454.1(ALMS1):c.11200T>A (p.Ser3734Thr) rs1209512957
NM_001378454.1(ALMS1):c.1123A>G (p.Ile375Val)
NM_001378454.1(ALMS1):c.11246C>A (p.Thr3749Asn)
NM_001378454.1(ALMS1):c.11260C>G (p.Leu3754Val)
NM_001378454.1(ALMS1):c.11278A>G (p.Thr3760Ala)
NM_001378454.1(ALMS1):c.11294T>C (p.Ile3765Thr)
NM_001378454.1(ALMS1):c.11309A>G (p.Asp3770Gly) rs770147613
NM_001378454.1(ALMS1):c.11321C>T (p.Ala3774Val)
NM_001378454.1(ALMS1):c.11323C>G (p.Leu3775Val) rs771595125
NM_001378454.1(ALMS1):c.11336G>A (p.Ser3779Asn)
NM_001378454.1(ALMS1):c.11405C>T (p.Ser3802Leu)
NM_001378454.1(ALMS1):c.11414G>T (p.Arg3805Leu)
NM_001378454.1(ALMS1):c.11434A>C (p.Ile3812Leu)
NM_001378454.1(ALMS1):c.11441A>G (p.Asn3814Ser) rs763907736
NM_001378454.1(ALMS1):c.11461G>A (p.Glu3821Lys)
NM_001378454.1(ALMS1):c.11500G>A (p.Gly3834Ser)
NM_001378454.1(ALMS1):c.11543T>A (p.Ile3848Asn)
NM_001378454.1(ALMS1):c.11559T>A (p.His3853Gln) rs186141821
NM_001378454.1(ALMS1):c.11594G>A (p.Ser3865Asn)
NM_001378454.1(ALMS1):c.11668+3A>G rs2104189383
NM_001378454.1(ALMS1):c.11680A>G (p.Ile3894Val)
NM_001378454.1(ALMS1):c.11688C>A (p.Asn3896Lys)
NM_001378454.1(ALMS1):c.11690G>A (p.Gly3897Asp)
NM_001378454.1(ALMS1):c.11695A>G (p.Lys3899Glu)
NM_001378454.1(ALMS1):c.116A>G (p.Asp39Gly)
NM_001378454.1(ALMS1):c.116A>T (p.Asp39Val)
NM_001378454.1(ALMS1):c.11704A>T (p.Thr3902Ser)
NM_001378454.1(ALMS1):c.11711A>G (p.Asp3904Gly)
NM_001378454.1(ALMS1):c.1175G>A (p.Arg392His)
NM_001378454.1(ALMS1):c.11798G>T (p.Arg3933Leu) rs45576434
NM_001378454.1(ALMS1):c.11809A>G (p.Met3937Val)
NM_001378454.1(ALMS1):c.11812C>G (p.Leu3938Val)
NM_001378454.1(ALMS1):c.11813T>C (p.Leu3938Pro)
NM_001378454.1(ALMS1):c.11841G>T (p.Lys3947Asn)
NM_001378454.1(ALMS1):c.11849A>G (p.Lys3950Arg)
NM_001378454.1(ALMS1):c.11933C>A (p.Pro3978His)
NM_001378454.1(ALMS1):c.11948C>G (p.Pro3983Arg)
NM_001378454.1(ALMS1):c.11963T>C (p.Phe3988Ser)
NM_001378454.1(ALMS1):c.11971A>T (p.Ile3991Leu)
NM_001378454.1(ALMS1):c.12036C>A (p.Asp4012Glu) rs370981817
NM_001378454.1(ALMS1):c.12041G>C (p.Arg4014Pro)
NM_001378454.1(ALMS1):c.12044G>T (p.Gly4015Val)
NM_001378454.1(ALMS1):c.12062G>A (p.Gly4021Asp)
NM_001378454.1(ALMS1):c.1208C>T (p.Ser403Leu)
NM_001378454.1(ALMS1):c.12097G>A (p.Val4033Met)
NM_001378454.1(ALMS1):c.12101G>A (p.Arg4034Lys)
NM_001378454.1(ALMS1):c.12106A>G (p.Thr4036Ala)
NM_001378454.1(ALMS1):c.12145A>G (p.Ile4049Val)
NM_001378454.1(ALMS1):c.12151C>A (p.Arg4051Ser)
NM_001378454.1(ALMS1):c.12163C>G (p.Arg4055Gly)
NM_001378454.1(ALMS1):c.12175_12177delinsTTT (p.Leu4059Phe)
NM_001378454.1(ALMS1):c.12179A>G (p.Lys4060Arg)
NM_001378454.1(ALMS1):c.12192G>T (p.Gln4064His)
NM_001378454.1(ALMS1):c.1220C>G (p.Ala407Gly)
NM_001378454.1(ALMS1):c.12214T>A (p.Leu4072Ile)
NM_001378454.1(ALMS1):c.12223G>A (p.Glu4075Lys)
NM_001378454.1(ALMS1):c.12241A>G (p.Asn4081Asp)
NM_001378454.1(ALMS1):c.12273T>G (p.Asn4091Lys)
NM_001378454.1(ALMS1):c.12342A>C (p.Glu4114Asp)
NM_001378454.1(ALMS1):c.12345G>A (p.Met4115Ile)
NM_001378454.1(ALMS1):c.12356C>G (p.Ser4119Cys)
NM_001378454.1(ALMS1):c.12361C>T (p.Arg4121Trp)
NM_001378454.1(ALMS1):c.12389A>T (p.Gln4130Leu) rs371587051
NM_001378454.1(ALMS1):c.12394A>C (p.Lys4132Gln)
NM_001378454.1(ALMS1):c.12398_12401del (p.Arg4133fs) rs761223068
NM_001378454.1(ALMS1):c.12399AGA[2] (p.Glu4136del) rs764575993
NM_001378454.1(ALMS1):c.12417A>T (p.Lys4139Asn)
NM_001378454.1(ALMS1):c.12433T>C (p.Tyr4145His)
NM_001378454.1(ALMS1):c.12437G>A (p.Arg4146Gln)
NM_001378454.1(ALMS1):c.12439C>G (p.Leu4147Val)
NM_001378454.1(ALMS1):c.12462+1G>T
NM_001378454.1(ALMS1):c.12463-1G>C
NM_001378454.1(ALMS1):c.124G>A (p.Val42Ile)
NM_001378454.1(ALMS1):c.1322C>G (p.Ala441Gly)
NM_001378454.1(ALMS1):c.1338+3G>A
NM_001378454.1(ALMS1):c.1343C>G (p.Thr448Arg) rs774335945
NM_001378454.1(ALMS1):c.134A>C (p.Glu45Ala)
NM_001378454.1(ALMS1):c.1352C>T (p.Ser451Leu)
NM_001378454.1(ALMS1):c.1381T>A (p.Leu461Met)
NM_001378454.1(ALMS1):c.1403T>C (p.Val468Ala)
NM_001378454.1(ALMS1):c.1445A>G (p.Lys482Arg)
NM_001378454.1(ALMS1):c.1461A>C (p.Lys487Asn) rs1671840179
NM_001378454.1(ALMS1):c.1486G>A (p.Gly496Ser)
NM_001378454.1(ALMS1):c.1615C>G (p.Gln539Glu)
NM_001378454.1(ALMS1):c.1669A>T (p.Ile557Phe)
NM_001378454.1(ALMS1):c.1744A>C (p.Ser582Arg)
NM_001378454.1(ALMS1):c.1762G>A (p.Gly588Ser)
NM_001378454.1(ALMS1):c.1772A>G (p.Asp591Gly)
NM_001378454.1(ALMS1):c.1826A>G (p.Asp609Gly)
NM_001378454.1(ALMS1):c.1882C>T (p.Pro628Ser)
NM_001378454.1(ALMS1):c.1927G>C (p.Glu643Gln)
NM_001378454.1(ALMS1):c.1933C>G (p.Pro645Ala) rs146234123
NM_001378454.1(ALMS1):c.1941A>C (p.Glu647Asp) rs768031771
NM_001378454.1(ALMS1):c.1948G>C (p.Ala650Pro)
NM_001378454.1(ALMS1):c.1966G>A (p.Glu656Lys)
NM_001378454.1(ALMS1):c.1975A>G (p.Thr659Ala)
NM_001378454.1(ALMS1):c.1999A>G (p.Thr667Ala) rs28730850
NM_001378454.1(ALMS1):c.2008T>A (p.Ser670Thr)
NM_001378454.1(ALMS1):c.2099G>A (p.Gly700Glu)
NM_001378454.1(ALMS1):c.2105C>G (p.Ala702Gly)
NM_001378454.1(ALMS1):c.2117C>T (p.Thr706Ile)
NM_001378454.1(ALMS1):c.2138C>T (p.Ser713Phe)
NM_001378454.1(ALMS1):c.2144C>G (p.Pro715Arg)
NM_001378454.1(ALMS1):c.2227G>C (p.Val743Leu) rs1046271130
NM_001378454.1(ALMS1):c.2243G>T (p.Gly748Val)
NM_001378454.1(ALMS1):c.2251G>A (p.Asp751Asn)
NM_001378454.1(ALMS1):c.2261C>A (p.Thr754Asn)
NM_001378454.1(ALMS1):c.2279A>G (p.Gln760Arg) rs1572932391
NM_001378454.1(ALMS1):c.2293_3150del (p.Ser765_Tyr1050del) rs2103774407
NM_001378454.1(ALMS1):c.2297A>G (p.Gln766Arg)
NM_001378454.1(ALMS1):c.2438A>G (p.His813Arg)
NM_001378454.1(ALMS1):c.2450T>C (p.Leu817Pro)
NM_001378454.1(ALMS1):c.2465A>G (p.Gln822Arg)
NM_001378454.1(ALMS1):c.2470G>A (p.Ala824Thr)
NM_001378454.1(ALMS1):c.2471C>A (p.Ala824Asp) rs754424459
NM_001378454.1(ALMS1):c.2498A>G (p.Glu833Gly)
NM_001378454.1(ALMS1):c.249C>A (p.His83Gln)
NM_001378454.1(ALMS1):c.253G>A (p.Gly85Ser)
NM_001378454.1(ALMS1):c.2555C>T (p.Ala852Val)
NM_001378454.1(ALMS1):c.2566A>G (p.Thr856Ala)
NM_001378454.1(ALMS1):c.2642C>T (p.Thr881Ile)
NM_001378454.1(ALMS1):c.2671C>T (p.Pro891Ser)
NM_001378454.1(ALMS1):c.2683_2685del (p.Asp895del) rs763288832
NM_001378454.1(ALMS1):c.2726C>T (p.Ser909Leu) rs746640196
NM_001378454.1(ALMS1):c.2801T>G (p.Val934Gly)
NM_001378454.1(ALMS1):c.281C>T (p.Pro94Leu)
NM_001378454.1(ALMS1):c.2848G>T (p.Val950Leu) rs370733145
NM_001378454.1(ALMS1):c.2866T>C (p.Ser956Pro)
NM_001378454.1(ALMS1):c.2875G>A (p.Glu959Lys)
NM_001378454.1(ALMS1):c.2911G>C (p.Asp971His)
NM_001378454.1(ALMS1):c.2948C>T (p.Ala983Val)
NM_001378454.1(ALMS1):c.2969A>G (p.Gln990Arg)
NM_001378454.1(ALMS1):c.296C>T (p.Ser99Leu)
NM_001378454.1(ALMS1):c.2989A>G (p.Thr997Ala)
NM_001378454.1(ALMS1):c.301G>A (p.Gly101Ser)
NM_001378454.1(ALMS1):c.302G>A (p.Gly101Asp)
NM_001378454.1(ALMS1):c.3070G>C (p.Glu1024Gln)
NM_001378454.1(ALMS1):c.3072A>C (p.Glu1024Asp) rs1671884089
NM_001378454.1(ALMS1):c.3086T>A (p.Val1029Asp)
NM_001378454.1(ALMS1):c.3091A>G (p.Thr1031Ala)
NM_001378454.1(ALMS1):c.3115A>G (p.Lys1039Glu)
NM_001378454.1(ALMS1):c.3127C>T (p.Pro1043Ser) rs376987487
NM_001378454.1(ALMS1):c.3143G>A (p.Ser1048Asn)
NM_001378454.1(ALMS1):c.3169A>G (p.Ser1057Gly) rs750417761
NM_001378454.1(ALMS1):c.325-1G>A rs764337753
NM_001378454.1(ALMS1):c.3268C>T (p.Pro1090Ser)
NM_001378454.1(ALMS1):c.3305A>G (p.Lys1102Arg)
NM_001378454.1(ALMS1):c.3357G>T (p.Glu1119Asp)
NM_001378454.1(ALMS1):c.3472G>C (p.Ala1158Pro) rs376302473
NM_001378454.1(ALMS1):c.3488A>T (p.His1163Leu)
NM_001378454.1(ALMS1):c.3551T>C (p.Ile1184Thr)
NM_001378454.1(ALMS1):c.3563T>G (p.Leu1188Arg)
NM_001378454.1(ALMS1):c.3596G>A (p.Gly1199Asp) rs1572934110
NM_001378454.1(ALMS1):c.3596G>C (p.Gly1199Ala)
NM_001378454.1(ALMS1):c.3635C>G (p.Pro1212Arg)
NM_001378454.1(ALMS1):c.3641A>C (p.Glu1214Ala)
NM_001378454.1(ALMS1):c.3667G>A (p.Gly1223Arg)
NM_001378454.1(ALMS1):c.3678C>G (p.Asp1226Glu)
NM_001378454.1(ALMS1):c.3707C>T (p.Ser1236Phe)
NM_001378454.1(ALMS1):c.3724A>G (p.Thr1242Ala)
NM_001378454.1(ALMS1):c.374A>G (p.Asn125Ser)
NM_001378454.1(ALMS1):c.375TAG[1] (p.Ser126del) rs760942576
NM_001378454.1(ALMS1):c.3769C>T (p.His1257Tyr)
NM_001378454.1(ALMS1):c.3770A>T (p.His1257Leu)
NM_001378454.1(ALMS1):c.379A>G (p.Arg127Gly)
NM_001378454.1(ALMS1):c.3812C>T (p.Pro1271Leu) rs372563916
NM_001378454.1(ALMS1):c.3815_3817del (p.Val1272del) rs954466797
NM_001378454.1(ALMS1):c.3839C>G (p.Ala1280Gly)
NM_001378454.1(ALMS1):c.3853T>G (p.Ser1285Ala)
NM_001378454.1(ALMS1):c.3857A>C (p.Tyr1286Ser) rs2103780445
NM_001378454.1(ALMS1):c.3899C>T (p.Ser1300Leu) rs769219669
NM_001378454.1(ALMS1):c.3907AGT[1] (p.Ser1304del) rs775132874
NM_001378454.1(ALMS1):c.398C>T (p.Thr133Ile) rs1348003970
NM_001378454.1(ALMS1):c.4001A>G (p.Tyr1334Cys)
NM_001378454.1(ALMS1):c.4016A>G (p.Lys1339Arg)
NM_001378454.1(ALMS1):c.4036C>G (p.Gln1346Glu)
NM_001378454.1(ALMS1):c.406G>T (p.Val136Phe)
NM_001378454.1(ALMS1):c.4096C>T (p.Pro1366Ser)
NM_001378454.1(ALMS1):c.40G>A (p.Glu14Lys)
NM_001378454.1(ALMS1):c.4184C>T (p.Ser1395Leu)
NM_001378454.1(ALMS1):c.4207G>A (p.Glu1403Lys)
NM_001378454.1(ALMS1):c.4289C>T (p.Ser1430Leu)
NM_001378454.1(ALMS1):c.4291C>A (p.His1431Asn)
NM_001378454.1(ALMS1):c.4297G>C (p.Glu1433Gln)
NM_001378454.1(ALMS1):c.4310G>T (p.Ser1437Ile)
NM_001378454.1(ALMS1):c.431G>A (p.Arg144Gln)
NM_001378454.1(ALMS1):c.4354G>A (p.Ala1452Thr)
NM_001378454.1(ALMS1):c.4363G>A (p.Val1455Ile) rs1445707777
NM_001378454.1(ALMS1):c.4369G>T (p.Val1457Phe) rs373453289
NM_001378454.1(ALMS1):c.4427G>C (p.Ser1476Thr)
NM_001378454.1(ALMS1):c.4453A>T (p.Ile1485Phe)
NM_001378454.1(ALMS1):c.4537A>G (p.Thr1513Ala)
NM_001378454.1(ALMS1):c.4556C>T (p.Thr1519Ile)
NM_001378454.1(ALMS1):c.4574A>C (p.Gln1525Pro)
NM_001378454.1(ALMS1):c.4621A>G (p.Ser1541Gly)
NM_001378454.1(ALMS1):c.4626A>C (p.Gln1542His) rs201603580
NM_001378454.1(ALMS1):c.4639G>A (p.Ala1547Thr)
NM_001378454.1(ALMS1):c.46G>A (p.Glu16Lys) rs1174023229
NM_001378454.1(ALMS1):c.46_52delinsA (p.Glu16_Glu18delinsLys)
NM_001378454.1(ALMS1):c.4700C>A (p.Thr1567Asn)
NM_001378454.1(ALMS1):c.4729C>T (p.Pro1577Ser)
NM_001378454.1(ALMS1):c.4742A>G (p.Tyr1581Cys)
NM_001378454.1(ALMS1):c.4757C>T (p.Pro1586Leu)
NM_001378454.1(ALMS1):c.4766A>G (p.His1589Arg)
NM_001378454.1(ALMS1):c.4820A>G (p.Lys1607Arg)
NM_001378454.1(ALMS1):c.4823C>T (p.Thr1608Ile)
NM_001378454.1(ALMS1):c.4828A>G (p.Ile1610Val)
NM_001378454.1(ALMS1):c.4840C>T (p.Pro1614Ser)
NM_001378454.1(ALMS1):c.4873A>G (p.Ile1625Val)
NM_001378454.1(ALMS1):c.4933T>C (p.Ser1645Pro)
NM_001378454.1(ALMS1):c.4940C>G (p.Ala1647Gly) rs2103784552
NM_001378454.1(ALMS1):c.4970C>A (p.Thr1657Lys)
NM_001378454.1(ALMS1):c.4987A>C (p.Thr1663Pro)
NM_001378454.1(ALMS1):c.5006G>A (p.Gly1669Glu) rs267599447
NM_001378454.1(ALMS1):c.5024A>G (p.Tyr1675Cys)
NM_001378454.1(ALMS1):c.5087G>A (p.Gly1696Glu)
NM_001378454.1(ALMS1):c.5120T>C (p.Val1707Ala)
NM_001378454.1(ALMS1):c.5143A>G (p.Arg1715Gly)
NM_001378454.1(ALMS1):c.5144G>C (p.Arg1715Thr)
NM_001378454.1(ALMS1):c.5164T>C (p.Tyr1722His)
NM_001378454.1(ALMS1):c.5195C>T (p.Thr1732Ile) rs2103785499
NM_001378454.1(ALMS1):c.5350A>G (p.Lys1784Glu)
NM_001378454.1(ALMS1):c.5372C>A (p.Pro1791Gln)
NM_001378454.1(ALMS1):c.5387C>T (p.Thr1796Ile)
NM_001378454.1(ALMS1):c.5391_5525del (p.Val1798_Gly1842del)
NM_001378454.1(ALMS1):c.5417A>G (p.Tyr1806Cys) rs374046216
NM_001378454.1(ALMS1):c.5453G>A (p.Arg1818Gln) rs200925575
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001378454.1(ALMS1):c.5515C>G (p.Gln1839Glu) rs1252756270
NM_001378454.1(ALMS1):c.5690C>T (p.Ser1897Leu)
NM_001378454.1(ALMS1):c.5711T>A (p.Ile1904Asn)
NM_001378454.1(ALMS1):c.5720A>G (p.Gln1907Arg)
NM_001378454.1(ALMS1):c.5741C>T (p.Thr1914Ile)
NM_001378454.1(ALMS1):c.5785C>T (p.Arg1929Trp) rs938557636
NM_001378454.1(ALMS1):c.5795A>G (p.Glu1932Gly)
NM_001378454.1(ALMS1):c.5828G>C (p.Arg1943Pro)
NM_001378454.1(ALMS1):c.5828G>T (p.Arg1943Leu) rs146669152
NM_001378454.1(ALMS1):c.582A>G (p.Ile194Met)
NM_001378454.1(ALMS1):c.5870A>T (p.Asp1957Val)
NM_001378454.1(ALMS1):c.5877T>A (p.His1959Gln)
NM_001378454.1(ALMS1):c.5917C>T (p.Pro1973Ser)
NM_001378454.1(ALMS1):c.5918C>T (p.Pro1973Leu)
NM_001378454.1(ALMS1):c.591A>C (p.Gln197His)
NM_001378454.1(ALMS1):c.5990A>T (p.Lys1997Met)
NM_001378454.1(ALMS1):c.5996C>T (p.Ser1999Leu)
NM_001378454.1(ALMS1):c.6016G>A (p.Asp2006Asn) rs1671968768
NM_001378454.1(ALMS1):c.6024A>C (p.Lys2008Asn) rs1671969063
NM_001378454.1(ALMS1):c.6068A>G (p.Glu2023Gly) rs376120513
NM_001378454.1(ALMS1):c.6085A>G (p.Thr2029Ala)
NM_001378454.1(ALMS1):c.608A>G (p.Lys203Arg)
NM_001378454.1(ALMS1):c.6091A>G (p.Ile2031Val)
NM_001378454.1(ALMS1):c.6151A>G (p.Thr2051Ala) rs2103789073
NM_001378454.1(ALMS1):c.6194G>A (p.Arg2065Lys) rs2103789247
NM_001378454.1(ALMS1):c.6200A>G (p.Gln2067Arg)
NM_001378454.1(ALMS1):c.6256G>A (p.Gly2086Arg)
NM_001378454.1(ALMS1):c.6274T>C (p.Ser2092Pro)
NM_001378454.1(ALMS1):c.6284A>C (p.Tyr2095Ser)
NM_001378454.1(ALMS1):c.6304A>C (p.Asn2102His) rs1386959032
NM_001378454.1(ALMS1):c.6322G>A (p.Glu2108Lys)
NM_001378454.1(ALMS1):c.6323A>G (p.Glu2108Gly)
NM_001378454.1(ALMS1):c.6395C>G (p.Thr2132Arg)
NM_001378454.1(ALMS1):c.6404C>T (p.Pro2135Leu)
NM_001378454.1(ALMS1):c.6406_6408dup (p.Thr2136_Ala2137insThr)
NM_001378454.1(ALMS1):c.6407C>T (p.Thr2136Ile)
NM_001378454.1(ALMS1):c.6482T>A (p.Leu2161Gln)
NM_001378454.1(ALMS1):c.6524C>T (p.Ala2175Val) rs549259627
NM_001378454.1(ALMS1):c.6612G>C (p.Arg2204Ser) rs758379924
NM_001378454.1(ALMS1):c.6637G>C (p.Asp2213His)
NM_001378454.1(ALMS1):c.6731T>G (p.Val2244Gly)
NM_001378454.1(ALMS1):c.6745A>T (p.Ile2249Phe) rs946232848
NM_001378454.1(ALMS1):c.6787C>T (p.Arg2263Trp)
NM_001378454.1(ALMS1):c.6811A>G (p.Asn2271Asp) rs1558651314
NM_001378454.1(ALMS1):c.6817G>A (p.Ala2273Thr)
NM_001378454.1(ALMS1):c.6865A>T (p.Ile2289Phe)
NM_001378454.1(ALMS1):c.6886C>G (p.Gln2296Glu) rs747355678
NM_001378454.1(ALMS1):c.68A>C (p.Glu23Ala)
NM_001378454.1(ALMS1):c.6937A>C (p.Asn2313His)
NM_001378454.1(ALMS1):c.695T>G (p.Leu232Trp)
NM_001378454.1(ALMS1):c.7007T>G (p.Ile2336Ser)
NM_001378454.1(ALMS1):c.7019C>T (p.Thr2340Met)
NM_001378454.1(ALMS1):c.7032C>G (p.Cys2344Trp)
NM_001378454.1(ALMS1):c.7044T>G (p.Ile2348Met)
NM_001378454.1(ALMS1):c.7069A>G (p.Thr2357Ala)
NM_001378454.1(ALMS1):c.707A>G (p.Gln236Arg)
NM_001378454.1(ALMS1):c.7103G>A (p.Ser2368Asn) rs781640600
NM_001378454.1(ALMS1):c.7167G>T (p.Arg2389Ser) rs1553404408
NM_001378454.1(ALMS1):c.7174C>T (p.Pro2392Ser)
NM_001378454.1(ALMS1):c.7193C>A (p.Thr2398Asn) rs200470452
NM_001378454.1(ALMS1):c.7203T>G (p.Asn2401Lys)
NM_001378454.1(ALMS1):c.7246A>G (p.Ser2416Gly)
NM_001378454.1(ALMS1):c.7270G>A (p.Gly2424Ser)
NM_001378454.1(ALMS1):c.7280C>T (p.Ser2427Leu)
NM_001378454.1(ALMS1):c.7288A>G (p.Ser2430Gly) rs539112266
NM_001378454.1(ALMS1):c.7346A>G (p.Tyr2449Cys) rs766767334
NM_001378454.1(ALMS1):c.734A>G (p.His245Arg)
NM_001378454.1(ALMS1):c.7370C>T (p.Thr2457Ile)
NM_001378454.1(ALMS1):c.7388A>G (p.Glu2463Gly)
NM_001378454.1(ALMS1):c.7458_7460del (p.Leu2487del)
NM_001378454.1(ALMS1):c.7498C>T (p.Leu2500Phe)
NM_001378454.1(ALMS1):c.7507G>T (p.Ala2503Ser) rs202060439
NM_001378454.1(ALMS1):c.7562T>C (p.Leu2521Ser)
NM_001378454.1(ALMS1):c.7596A>T (p.Leu2532Phe)
NM_001378454.1(ALMS1):c.7599T>G (p.Asn2533Lys)
NM_001378454.1(ALMS1):c.7607A>G (p.Asp2536Gly)
NM_001378454.1(ALMS1):c.760C>G (p.Leu254Val)
NM_001378454.1(ALMS1):c.7642T>C (p.Phe2548Leu)
NM_001378454.1(ALMS1):c.7652G>A (p.Gly2551Glu)
NM_001378454.1(ALMS1):c.7668G>T (p.Leu2556Phe)
NM_001378454.1(ALMS1):c.7674+5A>G rs756532322
NM_001378454.1(ALMS1):c.7681C>G (p.Gln2561Glu)
NM_001378454.1(ALMS1):c.7682A>T (p.Gln2561Leu)
NM_001378454.1(ALMS1):c.7684A>G (p.Ser2562Gly)
NM_001378454.1(ALMS1):c.7688C>G (p.Pro2563Arg)
NM_001378454.1(ALMS1):c.7688C>T (p.Pro2563Leu)
NM_001378454.1(ALMS1):c.7690C>T (p.Arg2564Trp)
NM_001378454.1(ALMS1):c.7709C>T (p.Pro2570Leu)
NM_001378454.1(ALMS1):c.770T>A (p.Ile257Asn)
NM_001378454.1(ALMS1):c.7750A>G (p.Lys2584Glu) rs776783409
NM_001378454.1(ALMS1):c.7753G>C (p.Gly2585Arg)
NM_001378454.1(ALMS1):c.7763G>A (p.Arg2588Gln)
NM_001378454.1(ALMS1):c.7792G>T (p.Asp2598Tyr)
NM_001378454.1(ALMS1):c.7799A>G (p.His2600Arg)
NM_001378454.1(ALMS1):c.77A>C (p.Glu26Ala)
NM_001378454.1(ALMS1):c.7801C>G (p.Pro2601Ala)
NM_001378454.1(ALMS1):c.7811T>C (p.Phe2604Ser) rs1672935406
NM_001378454.1(ALMS1):c.7843G>A (p.Gly2615Arg)
NM_001378454.1(ALMS1):c.786_788dup (p.Glu262_Asp263insGlu)
NM_001378454.1(ALMS1):c.7907A>C (p.Asn2636Thr)
NM_001378454.1(ALMS1):c.7913C>A (p.Ser2638Tyr)
NM_001378454.1(ALMS1):c.7924G>A (p.Val2642Ile)
NM_001378454.1(ALMS1):c.7981G>A (p.Glu2661Lys) rs762452929
NM_001378454.1(ALMS1):c.8006G>A (p.Arg2669Gln)
NM_001378454.1(ALMS1):c.8026A>T (p.Met2676Leu)
NM_001378454.1(ALMS1):c.812C>T (p.Ser271Leu)
NM_001378454.1(ALMS1):c.814G>C (p.Glu272Gln)
NM_001378454.1(ALMS1):c.8182A>C (p.Asn2728His)
NM_001378454.1(ALMS1):c.8210C>T (p.Thr2737Ile)
NM_001378454.1(ALMS1):c.8257C>T (p.His2753Tyr)
NM_001378454.1(ALMS1):c.8279C>G (p.Pro2760Arg)
NM_001378454.1(ALMS1):c.8281_8283delinsACT (p.Pro2761Thr)
NM_001378454.1(ALMS1):c.8306C>T (p.Ser2769Phe) rs1060500037
NM_001378454.1(ALMS1):c.8324A>G (p.Lys2775Arg)
NM_001378454.1(ALMS1):c.8345A>G (p.Asp2782Gly) rs1672950843
NM_001378454.1(ALMS1):c.8396C>G (p.Pro2799Arg)
NM_001378454.1(ALMS1):c.8446G>A (p.Asp2816Asn)
NM_001378454.1(ALMS1):c.844_845delinsTT (p.Ala282Leu)
NM_001378454.1(ALMS1):c.8485A>C (p.Asn2829His)
NM_001378454.1(ALMS1):c.8499C>G (p.Phe2833Leu)
NM_001378454.1(ALMS1):c.8506A>G (p.Ile2836Val)
NM_001378454.1(ALMS1):c.8530C>G (p.Leu2844Val)
NM_001378454.1(ALMS1):c.8543G>A (p.Gly2848Asp)
NM_001378454.1(ALMS1):c.8549C>T (p.Pro2850Leu)
NM_001378454.1(ALMS1):c.8571_8597dup (p.Val2865_Lys2866insAsnArgSerSerSerArgLeuGlyVal)
NM_001378454.1(ALMS1):c.8593G>A (p.Val2865Ile) rs780429128
NM_001378454.1(ALMS1):c.8624A>T (p.Asp2875Val)
NM_001378454.1(ALMS1):c.8635T>C (p.Cys2879Arg)
NM_001378454.1(ALMS1):c.8660T>C (p.Leu2887Pro)
NM_001378454.1(ALMS1):c.8672G>A (p.Ser2891Asn) rs756101133
NM_001378454.1(ALMS1):c.8722C>T (p.Pro2908Ser)
NM_001378454.1(ALMS1):c.8751C>A (p.Asp2917Glu)
NM_001378454.1(ALMS1):c.8756C>G (p.Pro2919Arg)
NM_001378454.1(ALMS1):c.8771T>C (p.Leu2924Pro)
NM_001378454.1(ALMS1):c.8788T>C (p.Phe2930Leu)
NM_001378454.1(ALMS1):c.8799C>G (p.Cys2933Trp)
NM_001378454.1(ALMS1):c.8833A>G (p.Asn2945Asp) rs1330910084
NM_001378454.1(ALMS1):c.8878C>G (p.Leu2960Val)
NM_001378454.1(ALMS1):c.8902C>G (p.Gln2968Glu) rs758433515
NM_001378454.1(ALMS1):c.8939T>A (p.Met2980Lys)
NM_001378454.1(ALMS1):c.8956C>G (p.Pro2986Ala)
NM_001378454.1(ALMS1):c.895C>T (p.Pro299Ser) rs1349884233
NM_001378454.1(ALMS1):c.8972A>G (p.Gln2991Arg)
NM_001378454.1(ALMS1):c.8991G>C (p.Lys2997Asn)
NM_001378454.1(ALMS1):c.8995A>T (p.Asn2999Tyr)
NM_001378454.1(ALMS1):c.9004A>C (p.Lys3002Gln)
NM_001378454.1(ALMS1):c.9016C>T (p.His3006Tyr) rs779131632
NM_001378454.1(ALMS1):c.9017A>T (p.His3006Leu)
NM_001378454.1(ALMS1):c.9066G>C (p.Gln3022His)
NM_001378454.1(ALMS1):c.90_92del (p.Ala35del) rs973057702
NM_001378454.1(ALMS1):c.9158C>T (p.Pro3053Leu) rs768273806
NM_001378454.1(ALMS1):c.9195T>G (p.Asp3065Glu)
NM_001378454.1(ALMS1):c.9205C>T (p.His3069Tyr)
NM_001378454.1(ALMS1):c.9225_9226insTTT (p.Ser3075_Lys3076insPhe)
NM_001378454.1(ALMS1):c.9235A>G (p.Met3079Val)
NM_001378454.1(ALMS1):c.9336A>T (p.Glu3112Asp) rs1558667820
NM_001378454.1(ALMS1):c.9342A>C (p.Leu3114Phe) rs759935236
NM_001378454.1(ALMS1):c.9377A>G (p.Gln3126Arg) rs1553409872
NM_001378454.1(ALMS1):c.9404G>A (p.Ser3135Asn)
NM_001378454.1(ALMS1):c.9407A>G (p.Asn3136Ser)
NM_001378454.1(ALMS1):c.9419A>G (p.Gln3140Arg)
NM_001378454.1(ALMS1):c.9436C>T (p.Pro3146Ser)
NM_001378454.1(ALMS1):c.9499G>A (p.Gly3167Arg) rs746440819
NM_001378454.1(ALMS1):c.94G>A (p.Ala32Thr)
NM_001378454.1(ALMS1):c.9511C>G (p.Pro3171Ala)
NM_001378454.1(ALMS1):c.9524C>T (p.Pro3175Leu)
NM_001378454.1(ALMS1):c.9527T>G (p.Val3176Gly)
NM_001378454.1(ALMS1):c.9572C>T (p.Ala3191Val)
NM_001378454.1(ALMS1):c.9605C>T (p.Thr3202Ile)
NM_001378454.1(ALMS1):c.9616A>G (p.Thr3206Ala) rs878853092
NM_001378454.1(ALMS1):c.9659T>C (p.Ile3220Thr)
NM_001378454.1(ALMS1):c.9673C>T (p.Arg3225Cys) rs200215551
NM_001378454.1(ALMS1):c.9677G>A (p.Gly3226Glu) rs1673640308
NM_001378454.1(ALMS1):c.9738ATC[1] (p.Ser3249del)
NM_001378454.1(ALMS1):c.9757G>C (p.Val3253Leu)
NM_001378454.1(ALMS1):c.9764T>C (p.Phe3255Ser)
NM_001378454.1(ALMS1):c.9812C>A (p.Ser3271Tyr)
NM_001378454.1(ALMS1):c.986A>T (p.Glu329Val)
NM_001378454.1(ALMS1):c.9875A>C (p.Lys3292Thr) rs959966297
NM_001378454.1(ALMS1):c.9889G>A (p.Val3297Ile)
NM_001378454.1(ALMS1):c.9910T>A (p.Ser3304Thr)
NM_001378454.1(ALMS1):c.9947T>A (p.Val3316Glu)
NM_001378454.1(ALMS1):c.9956C>T (p.Thr3319Ile) rs2104034941
NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu) rs867628133
NM_001378969.1(KCND3):c.1107-5C>A
NM_001378969.1(KCND3):c.1222C>T (p.Arg408Trp)
NM_001378969.1(KCND3):c.1223G>A (p.Arg408Gln)
NM_001378969.1(KCND3):c.1255C>T (p.Arg419Cys)
NM_001378969.1(KCND3):c.1291C>T (p.Arg431Cys) rs777183510
NM_001378969.1(KCND3):c.1345C>T (p.Leu449Phe)
NM_001378969.1(KCND3):c.1372-4C>T
NM_001378969.1(KCND3):c.1376C>A (p.Thr459Asn)
NM_001378969.1(KCND3):c.1378C>G (p.Pro460Ala)
NM_001378969.1(KCND3):c.1417G>A (p.Glu473Lys)
NM_001378969.1(KCND3):c.1435C>A (p.Leu479Met)
NM_001378969.1(KCND3):c.1442A>G (p.His481Arg)
NM_001378969.1(KCND3):c.1485_1503del (p.Asp495fs)
NM_001378969.1(KCND3):c.1501C>T (p.Arg501Ter)
NM_001378969.1(KCND3):c.1505C>G (p.Thr502Ser)
NM_001378969.1(KCND3):c.1535A>C (p.Asp512Ala) rs1664166577
NM_001378969.1(KCND3):c.1536T>G (p.Asp512Glu)
NM_001378969.1(KCND3):c.1543A>C (p.Met515Leu) rs369907159
NM_001378969.1(KCND3):c.1543A>G (p.Met515Val)
NM_001378969.1(KCND3):c.1561A>G (p.Met521Val)
NM_001378969.1(KCND3):c.1564G>A (p.Glu522Lys)
NM_001378969.1(KCND3):c.1615C>A (p.His539Asn)
NM_001378969.1(KCND3):c.1622G>A (p.Gly541Asp)
NM_001378969.1(KCND3):c.1660A>T (p.Thr554Ser)
NM_001378969.1(KCND3):c.166A>G (p.Thr56Ala)
NM_001378969.1(KCND3):c.1673C>G (p.Pro558Arg)
NM_001378969.1(KCND3):c.1677T>A (p.Asn559Lys)
NM_001378969.1(KCND3):c.1696C>T (p.Arg566Cys)
NM_001378969.1(KCND3):c.170C>T (p.Thr57Met)
NM_001378969.1(KCND3):c.1733T>C (p.Ile578Thr)
NM_001378969.1(KCND3):c.1736A>C (p.Gln579Pro)
NM_001378969.1(KCND3):c.1749G>C (p.Gln583His)
NM_001378969.1(KCND3):c.1756C>G (p.Leu586Val) rs778053688
NM_001378969.1(KCND3):c.1762A>G (p.Thr588Ala)
NM_001378969.1(KCND3):c.178C>T (p.Arg60Cys)
NM_001378969.1(KCND3):c.1888C>T (p.Arg630Trp)
NM_001378969.1(KCND3):c.1895C>G (p.Pro632Arg)
NM_001378969.1(KCND3):c.1897C>A (p.Pro633Thr)
NM_001378969.1(KCND3):c.1924A>T (p.Ile642Phe) rs754759010
NM_001378969.1(KCND3):c.1942A>G (p.Asn648Asp)
NM_001378969.1(KCND3):c.239A>G (p.Lys80Arg)
NM_001378969.1(KCND3):c.295C>T (p.Arg99Cys)
NM_001378969.1(KCND3):c.367A>G (p.Ile123Val)
NM_001378969.1(KCND3):c.385G>A (p.Gly129Arg)
NM_001378969.1(KCND3):c.388G>A (p.Asp130Asn)
NM_001378969.1(KCND3):c.430G>C (p.Ala144Pro)
NM_001378969.1(KCND3):c.44C>T (p.Ala15Val) rs866544148
NM_001378969.1(KCND3):c.460G>A (p.Glu154Lys)
NM_001378969.1(KCND3):c.491G>A (p.Ser164Asn)
NM_001378969.1(KCND3):c.497G>A (p.Arg166His)
NM_001378969.1(KCND3):c.506T>C (p.Met169Thr)
NM_001378969.1(KCND3):c.520G>A (p.Glu174Lys)
NM_001378969.1(KCND3):c.533C>T (p.Thr178Ile)
NM_001378969.1(KCND3):c.539C>T (p.Thr180Met)
NM_001378969.1(KCND3):c.59T>A (p.Met20Lys)
NM_001378969.1(KCND3):c.611C>T (p.Thr204Met) rs2101997230
NM_001378969.1(KCND3):c.646C>A (p.Leu216Met)
NM_001378969.1(KCND3):c.647T>G (p.Leu216Arg)
NM_001378969.1(KCND3):c.878G>A (p.Arg293His) rs1674965278
NM_001379200.1(TBX1):c.1003G>A (p.Ala335Thr)
NM_001379200.1(TBX1):c.100G>A (p.Gly34Arg)
NM_001379200.1(TBX1):c.101G>A (p.Gly34Glu)
NM_001379200.1(TBX1):c.1042G>A (p.Ala348Thr)
NM_001379200.1(TBX1):c.1065G>C (p.Gln355His)
NM_001379200.1(TBX1):c.1076G>A (p.Gly359Asp) rs781731042
NM_001379200.1(TBX1):c.110C>T (p.Pro37Leu)
NM_001379200.1(TBX1):c.1112C>G (p.Pro371Arg)
NM_001379200.1(TBX1):c.1118T>A (p.Leu373Gln)
NM_001379200.1(TBX1):c.1148C>A (p.Pro383His) rs953761540
NM_001379200.1(TBX1):c.1150_1152delinsAGGGCCGGCGGC (p.Pro383_Gly384insArgAlaGly) rs1555896709
NM_001379200.1(TBX1):c.115G>T (p.Ala39Ser)
NM_001379200.1(TBX1):c.1177C>T (p.Pro393Ser) rs1936852709
NM_001379200.1(TBX1):c.1202G>A (p.Arg401Gln) rs1270901790
NM_001379200.1(TBX1):c.1210C>A (p.Pro404Thr)
NM_001379200.1(TBX1):c.1210C>T (p.Pro404Ser)
NM_001379200.1(TBX1):c.121T>C (p.Ser41Pro)
NM_001379200.1(TBX1):c.121T>G (p.Ser41Ala)
NM_001379200.1(TBX1):c.1222G>C (p.Glu408Gln)
NM_001379200.1(TBX1):c.1228C>A (p.Arg410Ser)
NM_001379200.1(TBX1):c.1247C>T (p.Ala416Val)
NM_001379200.1(TBX1):c.1273T>C (p.Tyr425His) rs1243986502
NM_001379200.1(TBX1):c.1289C>T (p.Ala430Val)
NM_001379200.1(TBX1):c.1301A>G (p.His434Arg)
NM_001379200.1(TBX1):c.1312G>T (p.Ala438Ser)
NM_001379200.1(TBX1):c.1320C>G (p.Ser440Arg) rs2145838985
NM_001379200.1(TBX1):c.1343C>A (p.Pro448His)
NM_001379200.1(TBX1):c.134A>C (p.Asp45Ala)
NM_001379200.1(TBX1):c.1352G>T (p.Arg451Leu)
NM_001379200.1(TBX1):c.1360G>C (p.Gly454Arg)
NM_001379200.1(TBX1):c.1421C>G (p.Ala474Gly)
NM_001379200.1(TBX1):c.1421C>T (p.Ala474Val)
NM_001379200.1(TBX1):c.1429G>C (p.Ala477Pro)
NM_001379200.1(TBX1):c.1430C>G (p.Ala477Gly)
NM_001379200.1(TBX1):c.1432G>C (p.Ala478Pro)
NM_001379200.1(TBX1):c.1447G>T (p.Ala483Ser)
NM_001379200.1(TBX1):c.1456A>G (p.Asn486Asp)
NM_001379200.1(TBX1):c.145C>G (p.Pro49Ala)
NM_001379200.1(TBX1):c.1502A>G (p.Tyr501Cys)
NM_001379200.1(TBX1):c.1511G>A (p.Arg504Lys)
NM_001379200.1(TBX1):c.152A>C (p.Glu51Ala)
NM_001379200.1(TBX1):c.158CGC[6] (p.Pro57dup) rs886038791
NM_001379200.1(TBX1):c.170C>G (p.Pro57Arg)
NM_001379200.1(TBX1):c.190G>C (p.Ala64Pro)
NM_001379200.1(TBX1):c.196G>T (p.Ala66Ser)
NM_001379200.1(TBX1):c.200C>A (p.Pro67His)
NM_001379200.1(TBX1):c.202G>A (p.Gly68Ser)
NM_001379200.1(TBX1):c.208C>T (p.Pro70Ser)
NM_001379200.1(TBX1):c.209C>T (p.Pro70Leu)
NM_001379200.1(TBX1):c.215C>T (p.Pro72Leu)
NM_001379200.1(TBX1):c.218C>G (p.Pro73Arg)
NM_001379200.1(TBX1):c.221C>G (p.Pro74Arg)
NM_001379200.1(TBX1):c.226C>G (p.Pro76Ala)
NM_001379200.1(TBX1):c.230A>C (p.His77Pro)
NM_001379200.1(TBX1):c.232G>A (p.Ala78Thr) rs1028072654
NM_001379200.1(TBX1):c.233C>G (p.Ala78Gly)
NM_001379200.1(TBX1):c.233C>T (p.Ala78Val)
NM_001379200.1(TBX1):c.262G>A (p.Ala88Thr)
NM_001379200.1(TBX1):c.301A>G (p.Ser101Gly)
NM_001379200.1(TBX1):c.311C>T (p.Ala104Val)
NM_001379200.1(TBX1):c.323C>A (p.Ala108Glu)
NM_001379200.1(TBX1):c.341C>A (p.Ala114Glu)
NM_001379200.1(TBX1):c.361G>A (p.Val121Met)
NM_001379200.1(TBX1):c.370G>C (p.Glu124Gln)
NM_001379200.1(TBX1):c.409A>G (p.Thr137Ala)
NM_001379200.1(TBX1):c.465G>C (p.Lys155Asn)
NM_001379200.1(TBX1):c.532C>T (p.Arg178Cys)
NM_001379200.1(TBX1):c.598G>A (p.Gly200Ser)
NM_001379200.1(TBX1):c.604G>A (p.Val202Met)
NM_001379200.1(TBX1):c.70G>A (p.Ala24Thr) rs965143242
NM_001379200.1(TBX1):c.76A>G (p.Ser26Gly)
NM_001379200.1(TBX1):c.78C>G (p.Ser26Arg)
NM_001379200.1(TBX1):c.814T>A (p.Phe272Ile)
NM_001379200.1(TBX1):c.822C>A (p.Phe274Leu)
NM_001379200.1(TBX1):c.823G>C (p.Glu275Gln)
NM_001379200.1(TBX1):c.82A>C (p.Ser28Arg)
NM_001379200.1(TBX1):c.83G>T (p.Ser28Ile)
NM_001379200.1(TBX1):c.85A>G (p.Ser29Gly)
NM_001379200.1(TBX1):c.87C>G (p.Ser29Arg)
NM_001379200.1(TBX1):c.946C>T (p.His316Tyr)
NM_001379200.1(TBX1):c.961C>G (p.Leu321Val)
NM_001379200.1(TBX1):c.98C>T (p.Ala33Val)
NM_001458.5(FLNC):c.-2G>A
NM_001458.5(FLNC):c.1000C>T (p.Arg334Cys) rs372497581
NM_001458.5(FLNC):c.1081C>G (p.Arg361Gly)
NM_001458.5(FLNC):c.1102G>C (p.Val368Leu) rs781718076
NM_001458.5(FLNC):c.1123G>A (p.Ala375Thr) rs747623981
NM_001458.5(FLNC):c.113A>T (p.Gln38Leu) rs1585147708
NM_001458.5(FLNC):c.1142G>C (p.Arg381Pro)
NM_001458.5(FLNC):c.1156G>C (p.Glu386Gln) rs1204536261
NM_001458.5(FLNC):c.1208C>A (p.Ala403Glu) rs777199447
NM_001458.5(FLNC):c.1210+5G>A rs770923888
NM_001458.5(FLNC):c.1242C>G (p.Ile414Met)
NM_001458.5(FLNC):c.125T>G (p.Phe42Cys) rs777706683
NM_001458.5(FLNC):c.1295G>A (p.Gly432Asp)
NM_001458.5(FLNC):c.1306T>C (p.Phe436Leu)
NM_001458.5(FLNC):c.1309C>G (p.Arg437Gly) rs374847180
NM_001458.5(FLNC):c.1382G>T (p.Arg461Leu) rs377587489
NM_001458.5(FLNC):c.1412-1G>A
NM_001458.5(FLNC):c.1438T>C (p.Ser480Pro)
NM_001458.5(FLNC):c.1448G>A (p.Gly483Asp) rs1562993476
NM_001458.5(FLNC):c.1491C>A (p.Phe497Leu)
NM_001458.5(FLNC):c.1499T>C (p.Phe500Ser) rs2128934879
NM_001458.5(FLNC):c.1502C>T (p.Thr501Ile) rs794727967
NM_001458.5(FLNC):c.1508G>T (p.Gly503Val) rs1483134760
NM_001458.5(FLNC):c.1523A>C (p.Glu508Ala)
NM_001458.5(FLNC):c.1548_1549+2del rs763330423
NM_001458.5(FLNC):c.1549+2T>A
NM_001458.5(FLNC):c.1549+5G>A
NM_001458.5(FLNC):c.1556C>G (p.Thr519Arg)
NM_001458.5(FLNC):c.1582G>A (p.Ala528Thr)
NM_001458.5(FLNC):c.1585G>A (p.Gly529Arg)
NM_001458.5(FLNC):c.1628G>A (p.Gly543Glu) rs1221769888
NM_001458.5(FLNC):c.166C>G (p.Arg56Gly)
NM_001458.5(FLNC):c.1673G>A (p.Arg558His) rs776881635
NM_001458.5(FLNC):c.1673G>T (p.Arg558Leu) rs776881635
NM_001458.5(FLNC):c.1688T>C (p.Val563Ala) rs774963796
NM_001458.5(FLNC):c.1692G>C (p.Gln564His)
NM_001458.5(FLNC):c.1735C>A (p.Pro579Thr) rs1808303402
NM_001458.5(FLNC):c.1748C>T (p.Thr583Ile) rs2128935128
NM_001458.5(FLNC):c.184C>A (p.Arg62Ser)
NM_001458.5(FLNC):c.1853G>A (p.Cys618Tyr)
NM_001458.5(FLNC):c.1858G>A (p.Asp620Asn) rs567514134
NM_001458.5(FLNC):c.187G>T (p.Asp63Tyr)
NM_001458.5(FLNC):c.1900G>C (p.Glu634Gln)
NM_001458.5(FLNC):c.1922A>G (p.His641Arg)
NM_001458.5(FLNC):c.1931G>A (p.Cys644Tyr)
NM_001458.5(FLNC):c.1935_1937del (p.Asp646del) rs765300084
NM_001458.5(FLNC):c.193A>G (p.Ser65Gly)
NM_001458.5(FLNC):c.1949G>A (p.Arg650Gln)
NM_001458.5(FLNC):c.1994G>A (p.Cys665Tyr)
NM_001458.5(FLNC):c.2008G>T (p.Val670Leu)
NM_001458.5(FLNC):c.200G>T (p.Gly67Val) rs1807857687
NM_001458.5(FLNC):c.2050G>C (p.Val684Leu) rs769221710
NM_001458.5(FLNC):c.2062G>T (p.Ala688Ser) rs774194364
NM_001458.5(FLNC):c.2084G>C (p.Arg695Pro) rs766592492
NM_001458.5(FLNC):c.2084G>T (p.Arg695Leu) rs766592492
NM_001458.5(FLNC):c.2092G>A (p.Gly698Ser) rs1461903090
NM_001458.5(FLNC):c.2093G>T (p.Gly698Val)
NM_001458.5(FLNC):c.2108A>G (p.Lys703Arg) rs753914864
NM_001458.5(FLNC):c.212T>C (p.Ile71Thr) rs1554396387
NM_001458.5(FLNC):c.2131G>A (p.Gly711Ser)
NM_001458.5(FLNC):c.2134T>G (p.Cys712Gly)
NM_001458.5(FLNC):c.2140A>G (p.Ile714Val)
NM_001458.5(FLNC):c.2143G>A (p.Asp715Asn)
NM_001458.5(FLNC):c.2167G>A (p.Asp723Asn) rs375414341
NM_001458.5(FLNC):c.2189A>G (p.Tyr730Cys)
NM_001458.5(FLNC):c.2202G>C (p.Lys734Asn) rs769984017
NM_001458.5(FLNC):c.2227T>C (p.Ser743Pro)
NM_001458.5(FLNC):c.2228C>T (p.Ser743Phe)
NM_001458.5(FLNC):c.224A>T (p.Glu75Val)
NM_001458.5(FLNC):c.2300T>A (p.Val767Glu)
NM_001458.5(FLNC):c.2318G>A (p.Gly773Glu)
NM_001458.5(FLNC):c.2348A>G (p.Glu783Gly)
NM_001458.5(FLNC):c.2371T>G (p.Cys791Gly)
NM_001458.5(FLNC):c.2459A>T (p.Asp820Val) rs886044638
NM_001458.5(FLNC):c.245T>A (p.Met82Lys) rs1807859917
NM_001458.5(FLNC):c.245T>C (p.Met82Thr)
NM_001458.5(FLNC):c.2470A>T (p.Asn824Tyr) rs1562995383
NM_001458.5(FLNC):c.2478C>A (p.Asn826Lys)
NM_001458.5(FLNC):c.2492T>G (p.Val831Gly)
NM_001458.5(FLNC):c.2506C>T (p.Pro836Ser) rs1422445527
NM_001458.5(FLNC):c.251G>T (p.Arg84Leu)
NM_001458.5(FLNC):c.2524A>G (p.Thr842Ala)
NM_001458.5(FLNC):c.2533G>C (p.Val845Leu)
NM_001458.5(FLNC):c.2553G>T (p.Glu851Asp)
NM_001458.5(FLNC):c.2573A>G (p.His858Arg)
NM_001458.5(FLNC):c.2665C>T (p.His889Tyr)
NM_001458.5(FLNC):c.2703G>T (p.Lys901Asn) rs1554398845
NM_001458.5(FLNC):c.2710G>T (p.Val904Leu)
NM_001458.5(FLNC):c.273C>A (p.Asn91Lys) rs1807861563
NM_001458.5(FLNC):c.2747G>T (p.Arg916Leu) rs143720860
NM_001458.5(FLNC):c.2774A>T (p.Asp925Val)
NM_001458.5(FLNC):c.2803G>C (p.Val935Leu)
NM_001458.5(FLNC):c.2811+3G>A
NM_001458.5(FLNC):c.2869G>A (p.Val957Met)
NM_001458.5(FLNC):c.2900G>A (p.Ser967Asn)
NM_001458.5(FLNC):c.2911G>C (p.Val971Leu) rs548199973
NM_001458.5(FLNC):c.292G>A (p.Glu98Lys) rs1195481399
NM_001458.5(FLNC):c.2953G>A (p.Ala985Thr) rs1179474749
NM_001458.5(FLNC):c.2972G>A (p.Arg991Gln)
NM_001458.5(FLNC):c.2995C>G (p.Leu999Val)
NM_001458.5(FLNC):c.301T>A (p.Ser101Thr)
NM_001458.5(FLNC):c.301T>C (p.Ser101Pro)
NM_001458.5(FLNC):c.301_302delinsAA (p.Ser101Asn) rs2128932233
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys) rs200864007
NM_001458.5(FLNC):c.3064G>A (p.Glu1022Lys)
NM_001458.5(FLNC):c.3089C>G (p.Pro1030Arg) rs2128936198
NM_001458.5(FLNC):c.3092C>T (p.Pro1031Leu) rs372467579
NM_001458.5(FLNC):c.3096G>C (p.Glu1032Asp)
NM_001458.5(FLNC):c.3104C>T (p.Pro1035Leu)
NM_001458.5(FLNC):c.3114G>A (p.Val1038=) rs376516180
NM_001458.5(FLNC):c.3122C>G (p.Thr1041Ser)
NM_001458.5(FLNC):c.3135C>A (p.His1045Gln) rs988307328
NM_001458.5(FLNC):c.3193-2A>G rs749889670
NM_001458.5(FLNC):c.31G>T (p.Gly11Cys) rs370512642
NM_001458.5(FLNC):c.3247T>C (p.Phe1083Leu) rs1354409050
NM_001458.5(FLNC):c.3275C>A (p.Thr1092Lys) rs1405189650
NM_001458.5(FLNC):c.3278G>A (p.Gly1093Asp) rs1374868566
NM_001458.5(FLNC):c.330G>C (p.Glu110Asp)
NM_001458.5(FLNC):c.3421C>T (p.Pro1141Ser)
NM_001458.5(FLNC):c.3448C>T (p.Arg1150Trp) rs779184516
NM_001458.5(FLNC):c.3465G>A (p.Pro1155=) rs374686347
NM_001458.5(FLNC):c.3465_3467delinsAAA (p.Ser1156Asn)
NM_001458.5(FLNC):c.3472G>T (p.Val1158Leu)
NM_001458.5(FLNC):c.3475C>G (p.Arg1159Gly) rs760500171
NM_001458.5(FLNC):c.3481A>G (p.Ser1161Gly)
NM_001458.5(FLNC):c.3538T>C (p.Cys1180Arg)
NM_001458.5(FLNC):c.3581C>T (p.Ser1194Leu) rs773481064
NM_001458.5(FLNC):c.3583G>C (p.Asp1195His)
NM_001458.5(FLNC):c.3602A>T (p.Glu1201Val)
NM_001458.5(FLNC):c.3610A>T (p.Ile1204Phe)
NM_001458.5(FLNC):c.365T>C (p.Ile122Thr) rs2128933606
NM_001458.5(FLNC):c.367G>C (p.Val123Leu)
NM_001458.5(FLNC):c.3703G>A (p.Val1235Met) rs1208885010
NM_001458.5(FLNC):c.3711A>C (p.Lys1237Asn) rs758220780
NM_001458.5(FLNC):c.3713T>C (p.Phe1238Ser) rs777798089
NM_001458.5(FLNC):c.3714C>A (p.Phe1238Leu)
NM_001458.5(FLNC):c.3716C>T (p.Pro1239Leu)
NM_001458.5(FLNC):c.3778G>A (p.Val1260Ile)
NM_001458.5(FLNC):c.3790+1G>A
NM_001458.5(FLNC):c.3791-2A>T
NM_001458.5(FLNC):c.3794T>G (p.Val1265Gly)
NM_001458.5(FLNC):c.3799C>T (p.Arg1267Trp) rs371483562
NM_001458.5(FLNC):c.3862G>C (p.Val1288Leu) rs750415476
NM_001458.5(FLNC):c.3881A>T (p.Asn1294Ile) rs944103680
NM_001458.5(FLNC):c.3888G>A (p.Ser1296=)
NM_001458.5(FLNC):c.391C>A (p.Leu131Met)
NM_001458.5(FLNC):c.3952G>A (p.Ala1318Thr) rs777939926
NM_001458.5(FLNC):c.3952G>T (p.Ala1318Ser) rs777939926
NM_001458.5(FLNC):c.3953C>T (p.Ala1318Val)
NM_001458.5(FLNC):c.3965G>A (p.Gly1322Asp)
NM_001458.5(FLNC):c.3989A>G (p.Tyr1330Cys)
NM_001458.5(FLNC):c.4034C>G (p.Thr1345Ser)
NM_001458.5(FLNC):c.4054C>A (p.Arg1352Ser)
NM_001458.5(FLNC):c.4055G>T (p.Arg1352Leu) rs746731567
NM_001458.5(FLNC):c.4129G>C (p.Gly1377Arg)
NM_001458.5(FLNC):c.4156G>A (p.Ala1386Thr)
NM_001458.5(FLNC):c.4159A>G (p.Ile1387Val) rs1032003580
NM_001458.5(FLNC):c.4166G>T (p.Gly1389Val)
NM_001458.5(FLNC):c.4181A>G (p.Lys1394Arg)
NM_001458.5(FLNC):c.4193A>G (p.Lys1398Arg)
NM_001458.5(FLNC):c.4201A>G (p.Lys1401Glu)
NM_001458.5(FLNC):c.4250A>G (p.Tyr1417Cys)
NM_001458.5(FLNC):c.4255G>C (p.Val1419Leu)
NM_001458.5(FLNC):c.4276C>T (p.Arg1426Trp)
NM_001458.5(FLNC):c.4277G>A (p.Arg1426Gln)
NM_001458.5(FLNC):c.4289-5C>T
NM_001458.5(FLNC):c.4299C>A (p.Phe1433Leu)
NM_001458.5(FLNC):c.4301G>A (p.Arg1434His) rs143623535
NM_001458.5(FLNC):c.4301G>T (p.Arg1434Leu) rs143623535
NM_001458.5(FLNC):c.4303G>C (p.Val1435Leu)
NM_001458.5(FLNC):c.4363G>A (p.Ala1455Thr)
NM_001458.5(FLNC):c.4366G>A (p.Gly1456Ser)
NM_001458.5(FLNC):c.4391C>T (p.Thr1464Ile)
NM_001458.5(FLNC):c.4415C>T (p.Ala1472Val)
NM_001458.5(FLNC):c.4441G>A (p.Val1481Met)
NM_001458.5(FLNC):c.4456+1G>T
NM_001458.5(FLNC):c.4457G>C (p.Gly1486Ala)
NM_001458.5(FLNC):c.4507G>A (p.Val1503Ile)
NM_001458.5(FLNC):c.4516A>G (p.Thr1506Ala) rs771974318
NM_001458.5(FLNC):c.4517C>G (p.Thr1506Ser) rs1808634430
NM_001458.5(FLNC):c.460G>A (p.Glu154Lys)
NM_001458.5(FLNC):c.4697C>T (p.Ala1566Val)
NM_001458.5(FLNC):c.470G>T (p.Arg157Leu)
NM_001458.5(FLNC):c.4746G>A (p.Glu1582=)
NM_001458.5(FLNC):c.4747G>A (p.Gly1583Ser) rs2128937618
NM_001458.5(FLNC):c.4761G>T (p.Lys1587Asn)
NM_001458.5(FLNC):c.4774G>A (p.Asp1592Asn)
NM_001458.5(FLNC):c.4825C>G (p.Arg1609Gly) rs374756527
NM_001458.5(FLNC):c.4832C>T (p.Thr1611Ile) rs1025308371
NM_001458.5(FLNC):c.4858G>A (p.Glu1620Lys) rs1808685152
NM_001458.5(FLNC):c.4931C>G (p.Ser1644Cys) rs1808699932
NM_001458.5(FLNC):c.4951+2T>C rs1585164316
NM_001458.5(FLNC):c.5035A>G (p.Thr1679Ala)
NM_001458.5(FLNC):c.5042C>T (p.Thr1681Met) rs193159707
NM_001458.5(FLNC):c.5111T>G (p.Ile1704Ser)
NM_001458.5(FLNC):c.5165G>A (p.Gly1722Asp)
NM_001458.5(FLNC):c.5194G>A (p.Val1732Met) rs374848954
NM_001458.5(FLNC):c.5208C>A (p.Asp1736Glu) rs1291689149
NM_001458.5(FLNC):c.5248C>A (p.Leu1750Met)
NM_001458.5(FLNC):c.5262C>A (p.Tyr1754Ter)
NM_001458.5(FLNC):c.5287C>A (p.Pro1763Thr)
NM_001458.5(FLNC):c.5363T>G (p.Val1788Gly) rs573899913
NM_001458.5(FLNC):c.5411T>G (p.Met1804Arg)
NM_001458.5(FLNC):c.5448CAA[1] (p.Asn1817del) rs1312829675
NM_001458.5(FLNC):c.5449A>C (p.Asn1817His)
NM_001458.5(FLNC):c.5464A>G (p.Ile1822Val)
NM_001458.5(FLNC):c.5465T>G (p.Ile1822Ser)
NM_001458.5(FLNC):c.5483C>G (p.Pro1828Arg)
NM_001458.5(FLNC):c.5503C>A (p.Gln1835Lys)
NM_001458.5(FLNC):c.5504A>C (p.Gln1835Pro)
NM_001458.5(FLNC):c.5506A>C (p.Met1836Leu) rs1808780678
NM_001458.5(FLNC):c.5537C>T (p.Pro1846Leu) rs1408298919
NM_001458.5(FLNC):c.5546C>A (p.Pro1849His)
NM_001458.5(FLNC):c.5566G>A (p.Ala1856Thr)
NM_001458.5(FLNC):c.5579G>C (p.Arg1860Pro)
NM_001458.5(FLNC):c.5587A>G (p.Ser1863Gly)
NM_001458.5(FLNC):c.5624A>G (p.Asn1875Ser) rs1808801761
NM_001458.5(FLNC):c.5645T>C (p.Ile1882Thr)
NM_001458.5(FLNC):c.5659G>A (p.Ala1887Thr)
NM_001458.5(FLNC):c.5668+3G>A rs1563001474
NM_001458.5(FLNC):c.5724C>A (p.Asp1908Glu) rs2128938449
NM_001458.5(FLNC):c.5738C>T (p.Thr1913Ile)
NM_001458.5(FLNC):c.5770G>A (p.Gly1924Arg) rs1585166739
NM_001458.5(FLNC):c.5777A>G (p.Tyr1926Cys) rs376653815
NM_001458.5(FLNC):c.5792G>T (p.Arg1931Leu) rs780685346
NM_001458.5(FLNC):c.5816G>A (p.Gly1939Glu)
NM_001458.5(FLNC):c.5821C>T (p.Pro1941Ser)
NM_001458.5(FLNC):c.5843-2A>G rs1808866340
NM_001458.5(FLNC):c.5947G>T (p.Ala1983Ser)
NM_001458.5(FLNC):c.5995C>T (p.Arg1999Trp) rs746182820
NM_001458.5(FLNC):c.5999A>C (p.His2000Pro) rs572095826
NM_001458.5(FLNC):c.6002T>C (p.Ile2001Thr) rs1554400940
NM_001458.5(FLNC):c.6011C>T (p.Ser2004Phe)
NM_001458.5(FLNC):c.6017C>T (p.Thr2006Ile)
NM_001458.5(FLNC):c.601G>A (p.Gly201Ser) rs1808062939
NM_001458.5(FLNC):c.6039C>A (p.His2013Gln)
NM_001458.5(FLNC):c.6074C>T (p.Thr2025Ile) rs767695121
NM_001458.5(FLNC):c.6080G>C (p.Ser2027Thr)
NM_001458.5(FLNC):c.6112A>C (p.Ile2038Leu) rs2128938907
NM_001458.5(FLNC):c.611C>T (p.Pro204Leu)
NM_001458.5(FLNC):c.6121G>A (p.Ala2041Thr) rs745842738
NM_001458.5(FLNC):c.6125G>T (p.Ser2042Ile)
NM_001458.5(FLNC):c.6147G>T (p.Lys2049Asn)
NM_001458.5(FLNC):c.6160G>A (p.Gly2054Arg) rs1808887627
NM_001458.5(FLNC):c.6199C>T (p.Arg2067Cys) rs754160175
NM_001458.5(FLNC):c.6208+1G>A
NM_001458.5(FLNC):c.6217G>A (p.Gly2073Ser)
NM_001458.5(FLNC):c.6249G>C (p.Lys2083Asn)
NM_001458.5(FLNC):c.6250G>A (p.Val2084Met)
NM_001458.5(FLNC):c.6262T>C (p.Cys2088Arg)
NM_001458.5(FLNC):c.6329T>A (p.Ile2110Asn)
NM_001458.5(FLNC):c.6346G>A (p.Asp2116Asn)
NM_001458.5(FLNC):c.6346G>C (p.Asp2116His)
NM_001458.5(FLNC):c.6348C>G (p.Asp2116Glu)
NM_001458.5(FLNC):c.6361+5G>A rs1808919247
NM_001458.5(FLNC):c.6374C>G (p.Thr2125Ser) rs371455516
NM_001458.5(FLNC):c.6397C>A (p.Arg2133Ser)
NM_001458.5(FLNC):c.6397C>T (p.Arg2133Cys) rs1186464414
NM_001458.5(FLNC):c.6403A>G (p.Lys2135Glu)
NM_001458.5(FLNC):c.6421C>T (p.Arg2141Trp) rs1808926604
NM_001458.5(FLNC):c.6445A>G (p.Thr2149Ala)
NM_001458.5(FLNC):c.6502G>C (p.Val2168Leu)
NM_001458.5(FLNC):c.6517C>G (p.Arg2173Gly)
NM_001458.5(FLNC):c.6518G>A (p.Arg2173His)
NM_001458.5(FLNC):c.6539G>A (p.Arg2180His) rs1554401209
NM_001458.5(FLNC):c.6539G>C (p.Arg2180Pro) rs1554401209
NM_001458.5(FLNC):c.6541A>G (p.Ser2181Gly)
NM_001458.5(FLNC):c.6541AGC[1] (p.Ser2182del)
NM_001458.5(FLNC):c.6571A>C (p.Thr2191Pro)
NM_001458.5(FLNC):c.6604A>C (p.Lys2202Gln)
NM_001458.5(FLNC):c.6616C>A (p.Arg2206=)
NM_001458.5(FLNC):c.6616C>T (p.Arg2206Trp) rs867032077
NM_001458.5(FLNC):c.6617G>A (p.Arg2206Gln) rs781671804
NM_001458.5(FLNC):c.6622G>A (p.Glu2208Lys)
NM_001458.5(FLNC):c.6665T>C (p.Phe2222Ser) rs1554401281
NM_001458.5(FLNC):c.6702C>G (p.Phe2234Leu) rs370589662
NM_001458.5(FLNC):c.6713C>A (p.Thr2238Asn)
NM_001458.5(FLNC):c.6748A>G (p.Met2250Val)
NM_001458.5(FLNC):c.6791_6796dup (p.Glu2265_Ile2266insThrGlu)
NM_001458.5(FLNC):c.6799G>A (p.Val2267Ile) rs758080422
NM_001458.5(FLNC):c.6809A>T (p.Glu2270Val) rs780658670
NM_001458.5(FLNC):c.6826G>A (p.Val2276Met) rs1207179287
NM_001458.5(FLNC):c.6860C>T (p.Thr2287Met) rs1434865362
NM_001458.5(FLNC):c.6862G>C (p.Val2288Leu) rs953084143
NM_001458.5(FLNC):c.6901C>T (p.Pro2301Ser)
NM_001458.5(FLNC):c.6929G>A (p.Gly2310Asp)
NM_001458.5(FLNC):c.6989G>A (p.Gly2330Asp)
NM_001458.5(FLNC):c.6991G>T (p.Val2331Leu) rs191288058
NM_001458.5(FLNC):c.7018C>T (p.Arg2340Trp) rs2128939610
NM_001458.5(FLNC):c.7019G>A (p.Arg2340Gln)
NM_001458.5(FLNC):c.7028G>C (p.Gly2343Ala)
NM_001458.5(FLNC):c.7070C>T (p.Ala2357Val) rs765841097
NM_001458.5(FLNC):c.707C>T (p.Ala236Val) rs771789906
NM_001458.5(FLNC):c.7118A>G (p.Tyr2373Cys)
NM_001458.5(FLNC):c.7214C>T (p.Ser2405Leu) rs2128939759
NM_001458.5(FLNC):c.7272C>T (p.Asn2424=)
NM_001458.5(FLNC):c.7294C>A (p.Gln2432Lys)
NM_001458.5(FLNC):c.7318A>T (p.Ile2440Phe)
NM_001458.5(FLNC):c.7327C>T (p.Arg2443Trp) rs1585171621
NM_001458.5(FLNC):c.733G>A (p.Val245Met)
NM_001458.5(FLNC):c.7351G>A (p.Val2451Met)
NM_001458.5(FLNC):c.736G>A (p.Asp246Asn)
NM_001458.5(FLNC):c.7385-4A>G
NM_001458.5(FLNC):c.7387A>G (p.Lys2463Glu)
NM_001458.5(FLNC):c.7408C>G (p.Pro2470Ala)
NM_001458.5(FLNC):c.7409C>T (p.Pro2470Leu)
NM_001458.5(FLNC):c.7414G>A (p.Glu2472Lys) rs948675422
NM_001458.5(FLNC):c.7459A>G (p.Ile2487Val)
NM_001458.5(FLNC):c.7471C>A (p.Pro2491Thr)
NM_001458.5(FLNC):c.7486G>A (p.Val2496Ile) rs200295337
NM_001458.5(FLNC):c.7486G>T (p.Val2496Phe) rs200295337
NM_001458.5(FLNC):c.7490G>C (p.Gly2497Ala)
NM_001458.5(FLNC):c.7510G>A (p.Asp2504Asn)
NM_001458.5(FLNC):c.7561G>C (p.Gly2521Arg)
NM_001458.5(FLNC):c.7596T>A (p.Asn2532Lys) rs377522797
NM_001458.5(FLNC):c.7597G>C (p.Ala2533Pro)
NM_001458.5(FLNC):c.7630G>A (p.Gly2544Ser) rs2128940366
NM_001458.5(FLNC):c.7636T>A (p.Ser2546Thr) rs200673841
NM_001458.5(FLNC):c.76A>G (p.Lys26Glu) rs1562988843
NM_001458.5(FLNC):c.7709A>C (p.Asn2570Thr)
NM_001458.5(FLNC):c.7748T>C (p.Ile2583Thr)
NM_001458.5(FLNC):c.7772A>G (p.Lys2591Arg)
NM_001458.5(FLNC):c.7781G>A (p.Gly2594Asp)
NM_001458.5(FLNC):c.7885C>T (p.Pro2629Ser)
NM_001458.5(FLNC):c.7886C>A (p.Pro2629His)
NM_001458.5(FLNC):c.7907G>T (p.Ser2636Ile) rs1424306829
NM_001458.5(FLNC):c.7956GAA[1] (p.Lys2653del)
NM_001458.5(FLNC):c.7982G>A (p.Ser2661Asn)
NM_001458.5(FLNC):c.7991G>A (p.Gly2664Asp)
NM_001458.5(FLNC):c.8019C>G (p.His2673Gln) rs112180788
NM_001458.5(FLNC):c.8066A>T (p.Asn2689Ile)
NM_001458.5(FLNC):c.850G>T (p.Gly284Cys)
NM_001458.5(FLNC):c.856G>C (p.Glu286Gln) rs1274480597
NM_001458.5(FLNC):c.868A>G (p.Asn290Asp) rs1329109141
NM_001458.5(FLNC):c.904A>G (p.Thr302Ala) rs1410531577
NM_001458.5(FLNC):c.913G>A (p.Ala305Thr) rs1312282118
NM_001458.5(FLNC):c.917_918delinsTT (p.Gly306Val)
NM_001458.5(FLNC):c.91G>A (p.Asp31Asn)
NM_001458.5(FLNC):c.967G>A (p.Glu323Lys) rs1562992158
NM_001458.5(FLNC):c.985A>G (p.Asn329Asp)
NM_001613.4(ACTA2):c.323C>T (p.Thr108Met) rs886038789
NM_001613.4(ACTA2):c.496C>A (p.Pro166Thr) rs886038868
NM_001711.6(BGN):c.1024G>A (p.Val342Met)
NM_001711.6(BGN):c.1025T>C (p.Val342Ala)
NM_001711.6(BGN):c.1046C>T (p.Pro349Leu)
NM_001711.6(BGN):c.1087T>C (p.Phe363Leu)
NM_001711.6(BGN):c.118G>C (p.Glu40Gln)
NM_001711.6(BGN):c.121G>T (p.Ala41Ser)
NM_001711.6(BGN):c.125C>T (p.Ser42Leu)
NM_001711.6(BGN):c.214C>T (p.Arg72Trp)
NM_001711.6(BGN):c.239G>A (p.Gly80Asp)
NM_001711.6(BGN):c.278C>T (p.Thr93Met)
NM_001711.6(BGN):c.312G>C (p.Glu104Asp)
NM_001711.6(BGN):c.322G>A (p.Asp108Asn)
NM_001711.6(BGN):c.331A>G (p.Lys111Glu)
NM_001711.6(BGN):c.343C>A (p.His115Asn)
NM_001711.6(BGN):c.376A>G (p.Ile126Val)
NM_001711.6(BGN):c.383A>T (p.Lys128Met)
NM_001711.6(BGN):c.393G>T (p.Glu131Asp)
NM_001711.6(BGN):c.446A>G (p.His149Arg)
NM_001711.6(BGN):c.472C>T (p.Pro158Ser)
NM_001711.6(BGN):c.511A>G (p.Ile171Val)
NM_001711.6(BGN):c.527A>C (p.Lys176Thr)
NM_001711.6(BGN):c.532G>A (p.Val178Met)
NM_001711.6(BGN):c.620G>C (p.Gly207Ala)
NM_001711.6(BGN):c.653C>T (p.Ala218Val)
NM_001711.6(BGN):c.730A>G (p.Ile244Val)
NM_001711.6(BGN):c.737T>C (p.Leu246Pro)
NM_001711.6(BGN):c.812G>A (p.Gly271Glu) rs1286716416
NM_001711.6(BGN):c.827T>G (p.Leu276Arg)
NM_001711.6(BGN):c.910G>T (p.Val304Leu)
NM_001711.6(BGN):c.913G>A (p.Val305Ile)
NM_001711.6(BGN):c.964C>G (p.Pro322Ala)
NM_001711.6(BGN):c.986G>A (p.Arg329Gln)
NM_001743.6(CALM2):c.-2G>C
NM_001743.6(CALM2):c.-4C>T
NM_001743.6(CALM2):c.-5G>C
NM_001743.6(CALM2):c.130C>T (p.Pro44Ser)
NM_001743.6(CALM2):c.311C>T (p.Ala104Val)
NM_001743.6(CALM2):c.319C>T (p.Arg107Cys) rs1312868284
NM_001743.6(CALM2):c.4-4G>A
NM_001743.6(CALM2):c.57A>C (p.Leu19=)
NM_001927.4(DES):c.1024-3C>A rs1553603530
NM_001927.4(DES):c.1024-4G>A
NM_001927.4(DES):c.1073G>T (p.Ser358Ile)
NM_001927.4(DES):c.1090C>A (p.Gln364Lys) rs1224165687
NM_001927.4(DES):c.1096A>G (p.Asn366Asp)
NM_001927.4(DES):c.1099A>G (p.Ile367Val) rs62636494
NM_001927.4(DES):c.1117G>A (p.Glu373Lys)
NM_001927.4(DES):c.1153C>G (p.Leu385Val) rs1393155504
NM_001927.4(DES):c.1157G>A (p.Arg386His) rs1029457073
NM_001927.4(DES):c.1157G>T (p.Arg386Leu)
NM_001927.4(DES):c.115G>A (p.Gly39Ser) rs758434755
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) rs121913001
NM_001927.4(DES):c.1203G>C (p.Glu401Asp) rs2125168897
NM_001927.4(DES):c.1205T>C (p.Ile402Thr) rs1553603571
NM_001927.4(DES):c.1245-3T>G rs111427762
NM_001927.4(DES):c.1286G>A (p.Arg429Gln) rs200580581
NM_001927.4(DES):c.1333_1336del (p.Lys444_Thr445insTer) rs1114167327
NM_001927.4(DES):c.1345_1353del (p.Lys449_Ile451del) rs1064796352
NM_001927.4(DES):c.1349C>A (p.Thr450Asn)
NM_001927.4(DES):c.1354G>A (p.Glu452Lys)
NM_001927.4(DES):c.1371+2dup rs2125172078
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.154C>A (p.Arg52Ser) rs794728990
NM_001927.4(DES):c.15C>A (p.Tyr5Ter)
NM_001927.4(DES):c.172C>T (p.Arg58Cys)
NM_001927.4(DES):c.173G>T (p.Arg58Leu)
NM_001927.4(DES):c.17C>G (p.Ser6Trp) rs1214936508
NM_001927.4(DES):c.190G>A (p.Gly64Arg)
NM_001927.4(DES):c.193G>C (p.Gly65Arg)
NM_001927.4(DES):c.206T>C (p.Leu69Pro)
NM_001927.4(DES):c.314G>C (p.Arg105Pro)
NM_001927.4(DES):c.314_315delinsCT (p.Arg105Pro)
NM_001927.4(DES):c.326A>G (p.Lys109Arg) rs1488426454
NM_001927.4(DES):c.327G>C (p.Lys109Asn)
NM_001927.4(DES):c.349G>C (p.Asp117His) rs1954372615
NM_001927.4(DES):c.359C>G (p.Ala120Gly)
NM_001927.4(DES):c.361A>C (p.Asn121His) rs1954373113
NM_001927.4(DES):c.37T>C (p.Ser13Pro) rs1954359599
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001927.4(DES):c.406C>G (p.Leu136Val) rs1175707667
NM_001927.4(DES):c.425G>C (p.Arg142Pro)
NM_001927.4(DES):c.439G>A (p.Glu147Lys)
NM_001927.4(DES):c.446C>G (p.Thr149Arg)
NM_001927.4(DES):c.461T>C (p.Leu154Pro)
NM_001927.4(DES):c.482A>G (p.Glu161Gly)
NM_001927.4(DES):c.483G>C (p.Glu161Asp)
NM_001927.4(DES):c.490C>A (p.Arg164Ser)
NM_001927.4(DES):c.515A>T (p.Gln172Leu)
NM_001927.4(DES):c.541G>C (p.Asp181His) rs1297244198
NM_001927.4(DES):c.542_550del (p.Asp181_Leu184delinsVal)
NM_001927.4(DES):c.55G>C (p.Gly19Arg) rs936853024
NM_001927.4(DES):c.578+3G>T
NM_001927.4(DES):c.597G>C (p.Gln199His)
NM_001927.4(DES):c.602A>G (p.Lys201Arg)
NM_001927.4(DES):c.623T>C (p.Leu208Ser) rs373062962
NM_001927.4(DES):c.670G>C (p.Asp224His)
NM_001927.4(DES):c.68G>A (p.Gly23Asp)
NM_001927.4(DES):c.709G>T (p.Ala237Ser) rs397516697
NM_001927.4(DES):c.743G>T (p.Arg248Leu)
NM_001927.4(DES):c.767A>G (p.Glu256Gly) rs1553603440
NM_001927.4(DES):c.823A>G (p.Arg275Gly) rs994389035
NM_001927.4(DES):c.832C>T (p.Arg278Trp) rs794728985
NM_001927.4(DES):c.844G>A (p.Glu282Lys)
NM_001927.4(DES):c.845A>G (p.Glu282Gly)
NM_001927.4(DES):c.847A>G (p.Thr283Ala)
NM_001927.4(DES):c.906C>A (p.Asp302Glu) rs1224203630
NM_001927.4(DES):c.944G>A (p.Arg315His) rs771455648
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001927.4(DES):c.998G>T (p.Cys333Phe)
NM_001927.4(DES):c.999C>G (p.Cys333Trp)
NM_001943.5(DSG2):c.-11_11dup (p.Ser4fs)
NM_001943.5(DSG2):c.1014+3_1014+4del
NM_001943.5(DSG2):c.1034T>A (p.Met345Lys) rs2144332528
NM_001943.5(DSG2):c.1035GAA[1] (p.Lys346del) rs727502987
NM_001943.5(DSG2):c.1064C>T (p.Ala355Val)
NM_001943.5(DSG2):c.1111A>C (p.Thr371Pro)
NM_001943.5(DSG2):c.1159C>G (p.His387Asp) rs886039173
NM_001943.5(DSG2):c.1173C>A (p.Ser391Arg) rs763242004
NM_001943.5(DSG2):c.1256A>T (p.Asp419Val) rs760135423
NM_001943.5(DSG2):c.1297G>T (p.Asp433Tyr) rs938919152
NM_001943.5(DSG2):c.12C>G (p.Ser4Arg)
NM_001943.5(DSG2):c.1316C>G (p.Ser439Cys) rs2073222283
NM_001943.5(DSG2):c.131T>C (p.Leu44Ser)
NM_001943.5(DSG2):c.1321G>T (p.Asp441Tyr)
NM_001943.5(DSG2):c.1355T>C (p.Leu452Pro)
NM_001943.5(DSG2):c.1355T>G (p.Leu452Arg) rs763810935
NM_001943.5(DSG2):c.1427A>T (p.Tyr476Phe)
NM_001943.5(DSG2):c.1429C>A (p.Pro477Thr)
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.1483A>T (p.Asn495Tyr)
NM_001943.5(DSG2):c.1499T>G (p.Ile500Arg) rs769741655
NM_001943.5(DSG2):c.14C>T (p.Pro5Leu) rs530517936
NM_001943.5(DSG2):c.1504C>T (p.Pro502Ser) rs774495857
NM_001943.5(DSG2):c.1532A>G (p.Glu511Gly) rs1416039056
NM_001943.5(DSG2):c.1533G>C (p.Glu511Asp)
NM_001943.5(DSG2):c.1549G>T (p.Ala517Ser) rs1299327345
NM_001943.5(DSG2):c.1605C>A (p.Asp535Glu) rs368718022
NM_001943.5(DSG2):c.1670A>G (p.Gln557Arg)
NM_001943.5(DSG2):c.1676G>A (p.Ser559Asn)
NM_001943.5(DSG2):c.1698T>A (p.Ser566Arg)
NM_001943.5(DSG2):c.1707G>C (p.Gln569His) rs370097438
NM_001943.5(DSG2):c.172C>G (p.Leu58Val) rs780300040
NM_001943.5(DSG2):c.1744G>A (p.Glu582Lys)
NM_001943.5(DSG2):c.1817C>A (p.Ser606Tyr)
NM_001943.5(DSG2):c.1880T>C (p.Leu627Ser)
NM_001943.5(DSG2):c.190C>G (p.Leu64Val)
NM_001943.5(DSG2):c.1964A>T (p.His655Leu)
NM_001943.5(DSG2):c.2008C>T (p.Pro670Ser)
NM_001943.5(DSG2):c.2026G>C (p.Asp676His)
NM_001943.5(DSG2):c.2081C>G (p.Ala694Gly)
NM_001943.5(DSG2):c.2087T>G (p.Met696Arg)
NM_001943.5(DSG2):c.2137_2138delinsAC (p.Glu713Thr)
NM_001943.5(DSG2):c.2183G>A (p.Arg728Lys)
NM_001943.5(DSG2):c.2188A>G (p.Thr730Ala) rs780650226
NM_001943.5(DSG2):c.2210G>A (p.Gly737Asp)
NM_001943.5(DSG2):c.2242G>T (p.Ala748Ser) rs763994831
NM_001943.5(DSG2):c.2254G>C (p.Gly752Arg)
NM_001943.5(DSG2):c.2261C>T (p.Ser754Phe)
NM_001943.5(DSG2):c.2271G>A (p.Met757Ile) rs2073277708
NM_001943.5(DSG2):c.2285C>A (p.Ala762Glu)
NM_001943.5(DSG2):c.2417C>T (p.Ser806Leu)
NM_001943.5(DSG2):c.2438G>T (p.Cys813Phe)
NM_001943.5(DSG2):c.2441G>T (p.Cys814Phe)
NM_001943.5(DSG2):c.2447T>A (p.Phe816Tyr) rs1284559802
NM_001943.5(DSG2):c.2470C>A (p.Arg824Ser)
NM_001943.5(DSG2):c.2479G>C (p.Asp827His)
NM_001943.5(DSG2):c.2504C>T (p.Thr835Ile)
NM_001943.5(DSG2):c.2504_2505inv (p.Thr835Met)
NM_001943.5(DSG2):c.2509G>A (p.Ala837Thr) rs2073302750
NM_001943.5(DSG2):c.2554G>T (p.Glu852Ter)
NM_001943.5(DSG2):c.2575A>G (p.Thr859Ala) rs886039011
NM_001943.5(DSG2):c.259T>G (p.Tyr87Asp)
NM_001943.5(DSG2):c.2616G>T (p.Glu872Asp)
NM_001943.5(DSG2):c.2625G>A (p.Met875Ile)
NM_001943.5(DSG2):c.2646CTC[1] (p.Ser884del) rs794728095
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.271G>A (p.Gly91Arg)
NM_001943.5(DSG2):c.2729G>A (p.Arg910Lys)
NM_001943.5(DSG2):c.2758G>T (p.Val920Leu)
NM_001943.5(DSG2):c.2759T>C (p.Val920Ala)
NM_001943.5(DSG2):c.2792G>A (p.Arg931Lys) rs886039205
NM_001943.5(DSG2):c.2800A>G (p.Ile934Val) rs1469730786
NM_001943.5(DSG2):c.2873C>T (p.Pro958Leu)
NM_001943.5(DSG2):c.2881C>T (p.Leu961Phe)
NM_001943.5(DSG2):c.289C>T (p.Pro97Ser)
NM_001943.5(DSG2):c.2933C>T (p.Pro978Leu)
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.2969G>A (p.Arg990Lys)
NM_001943.5(DSG2):c.2974A>G (p.Ile992Val) rs933743259
NM_001943.5(DSG2):c.2975T>C (p.Ile992Thr)
NM_001943.5(DSG2):c.2978A>G (p.Gln993Arg)
NM_001943.5(DSG2):c.303A>G (p.Ile101Met) rs755433039
NM_001943.5(DSG2):c.3056G>A (p.Arg1019Lys) rs1057520867
NM_001943.5(DSG2):c.3061_3062del (p.Ser1021fs) rs397516706
NM_001943.5(DSG2):c.3143_3160dup (p.Glu1048_Pro1053dup) rs1319078257
NM_001943.5(DSG2):c.3144_3147del (p.Arg1049fs) rs758822081
NM_001943.5(DSG2):c.3146G>C (p.Arg1049Thr)
NM_001943.5(DSG2):c.3230C>T (p.Ser1077Phe) rs962653351
NM_001943.5(DSG2):c.3239G>T (p.Gly1080Val)
NM_001943.5(DSG2):c.3280G>C (p.Gly1094Arg) rs2073313909
NM_001943.5(DSG2):c.3304A>G (p.Thr1102Ala) rs778884735
NM_001943.5(DSG2):c.3329A>G (p.His1110Arg)
NM_001943.5(DSG2):c.3331A>T (p.Ser1111Cys)
NM_001943.5(DSG2):c.370T>A (p.Phe124Ile)
NM_001943.5(DSG2):c.37C>T (p.Leu13Phe) rs1276147010
NM_001943.5(DSG2):c.383C>T (p.Thr128Ile) rs764530260
NM_001943.5(DSG2):c.385G>T (p.Gly129Cys) rs2073125035
NM_001943.5(DSG2):c.391G>T (p.Ala131Ser) rs373542380
NM_001943.5(DSG2):c.42_44del (p.Leu15del) rs2072994567
NM_001943.5(DSG2):c.444G>C (p.Lys148Asn)
NM_001943.5(DSG2):c.45+5G>C rs1423214260
NM_001943.5(DSG2):c.484G>A (p.Asp162Asn)
NM_001943.5(DSG2):c.486T>A (p.Asp162Glu) rs756239722
NM_001943.5(DSG2):c.494T>C (p.Val165Ala)
NM_001943.5(DSG2):c.530T>C (p.Leu177Pro)
NM_001943.5(DSG2):c.616G>A (p.Ala206Thr)
NM_001943.5(DSG2):c.628G>A (p.Val210Met)
NM_001943.5(DSG2):c.691-5T>A
NM_001943.5(DSG2):c.722C>T (p.Ala241Val)
NM_001943.5(DSG2):c.818A>C (p.Glu273Ala)
NM_001943.5(DSG2):c.820A>T (p.Asn274Tyr)
NM_001943.5(DSG2):c.829-4G>A rs376424003
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) rs794728093
NM_001943.5(DSG2):c.832G>A (p.Glu278Lys)
NM_001943.5(DSG2):c.875G>T (p.Arg292Leu) rs185821167
NM_001943.5(DSG2):c.877A>T (p.Ile293Leu) rs2230234
NM_001943.5(DSG2):c.888C>G (p.Phe296Leu)
NM_001943.5(DSG2):c.898G>A (p.Glu300Lys)
NM_001943.5(DSG2):c.967A>G (p.Ile323Val) rs886039096
NM_001943.5(DSG2):c.98A>C (p.Asn33Thr) rs727505205
NM_001999.4(FBN2):c.4184G>T (p.Cys1395Phe) rs886038935
NM_001999.4(FBN2):c.4757G>A (p.Arg1586Gln) rs143195229
NM_001999.4(FBN2):c.4829T>C (p.Leu1610Pro) rs886038891
NM_001999.4(FBN2):c.4994A>G (p.Asn1665Ser) rs886038773
NM_001999.4(FBN2):c.5531T>C (p.Leu1844Pro) rs755917639
NM_001999.4(FBN2):c.6118A>G (p.Arg2040Gly) rs886038814
NM_001999.4(FBN2):c.756G>T (p.Glu252Asp) rs565550310
NM_001999.4(FBN2):c.8035G>T (p.Ala2679Ser) rs763870762
NM_001999.4(FBN2):c.8597G>T (p.Gly2866Val) rs886038818
NM_002230.4(JUP):c.-2C>T
NM_002230.4(JUP):c.-3_6delinsCCA (p.Met1_Glu2del)
NM_002230.4(JUP):c.1046T>A (p.Val349Glu)
NM_002230.4(JUP):c.1066G>A (p.Ala356Thr)
NM_002230.4(JUP):c.1080C>A (p.His360Gln)
NM_002230.4(JUP):c.1113C>A (p.Asn371Lys) rs782009178
NM_002230.4(JUP):c.1129C>T (p.Arg377Cys) rs368564000
NM_002230.4(JUP):c.1134C>G (p.Asn378Lys)
NM_002230.4(JUP):c.113GCA[1] (p.Ser39del) rs113994176
NM_002230.4(JUP):c.1183A>G (p.Ile395Val)
NM_002230.4(JUP):c.1246T>A (p.Ser416Thr)
NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)
NM_002230.4(JUP):c.1260C>G (p.Cys420Trp)
NM_002230.4(JUP):c.1292A>G (p.Gln431Arg)
NM_002230.4(JUP):c.1328T>C (p.Leu443Pro)
NM_002230.4(JUP):c.1346A>G (p.Asp449Gly)
NM_002230.4(JUP):c.1429C>T (p.Arg477Cys)
NM_002230.4(JUP):c.1470C>G (p.Asn490Lys)
NM_002230.4(JUP):c.1481A>G (p.Gln494Arg) rs2143558258
NM_002230.4(JUP):c.1482G>C (p.Gln494His) rs1367975995
NM_002230.4(JUP):c.1497+4C>G
NM_002230.4(JUP):c.1498G>A (p.Ala500Thr)
NM_002230.4(JUP):c.1525G>T (p.Ala509Ser) rs1555599847
NM_002230.4(JUP):c.152G>T (p.Arg51Leu)
NM_002230.4(JUP):c.1547C>A (p.Ala516Asp) rs1255846046
NM_002230.4(JUP):c.1577G>A (p.Arg526His)
NM_002230.4(JUP):c.1622A>C (p.His541Pro)
NM_002230.4(JUP):c.1622A>T (p.His541Leu) rs782449369
NM_002230.4(JUP):c.1678G>A (p.Val560Met)
NM_002230.4(JUP):c.1685G>A (p.Gly562Asp)
NM_002230.4(JUP):c.1697C>G (p.Ala566Gly)
NM_002230.4(JUP):c.1705A>T (p.Ile569Phe) rs370101446
NM_002230.4(JUP):c.1711G>A (p.Ala571Thr) rs397517297
NM_002230.4(JUP):c.1745G>A (p.Arg582Gln) rs781828085
NM_002230.4(JUP):c.1773+3G>A rs1460748612
NM_002230.4(JUP):c.1774C>G (p.Leu592Val)
NM_002230.4(JUP):c.178_186del (p.Thr60_Thr62del)
NM_002230.4(JUP):c.1814C>T (p.Ala605Val) rs954113545
NM_002230.4(JUP):c.1816G>A (p.Gly606Arg)
NM_002230.4(JUP):c.1816G>C (p.Gly606Arg) rs1371912642
NM_002230.4(JUP):c.1817G>A (p.Gly606Glu)
NM_002230.4(JUP):c.1835C>G (p.Ala612Gly)
NM_002230.4(JUP):c.1858G>A (p.Ala620Thr)
NM_002230.4(JUP):c.185C>G (p.Thr62Ser)
NM_002230.4(JUP):c.1873G>A (p.Gly625Arg)
NM_002230.4(JUP):c.1879T>C (p.Ser627Pro)
NM_002230.4(JUP):c.1907C>T (p.Ser636Phe)
NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)
NM_002230.4(JUP):c.1915G>A (p.Glu639Lys)
NM_002230.4(JUP):c.1924+1G>A rs1597781765
NM_002230.4(JUP):c.1927A>G (p.Thr643Ala) rs2143420466
NM_002230.4(JUP):c.1955T>A (p.Ile652Asn)
NM_002230.4(JUP):c.1981C>T (p.Arg661Trp)
NM_002230.4(JUP):c.203G>A (p.Ser68Asn)
NM_002230.4(JUP):c.2056A>G (p.Met686Val)
NM_002230.4(JUP):c.2087-4C>A
NM_002230.4(JUP):c.2095G>T (p.Ala699Ser)
NM_002230.4(JUP):c.211_213delinsTAC (p.Asp71Tyr)
NM_002230.4(JUP):c.2125G>A (p.Val709Met)
NM_002230.4(JUP):c.2146A>G (p.Met716Val)
NM_002230.4(JUP):c.2158A>G (p.Met720Val)
NM_002230.4(JUP):c.2162A>G (p.Asp721Gly)
NM_002230.4(JUP):c.2188A>G (p.Ser730Gly) rs1009184280
NM_002230.4(JUP):c.2204C>T (p.Pro735Leu) rs782574785
NM_002230.4(JUP):c.2212C>T (p.Pro738Ser)
NM_002230.4(JUP):c.2222A>G (p.Asp741Gly)
NM_002230.4(JUP):c.2227A>G (p.Met743Val) rs1913591137
NM_002230.4(JUP):c.250C>G (p.Arg84Gly) rs782306414
NM_002230.4(JUP):c.328G>T (p.Ala110Ser)
NM_002230.4(JUP):c.370A>T (p.Lys124Ter)
NM_002230.4(JUP):c.382G>A (p.Val128Met)
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.401A>G (p.Gln134Arg) rs1057518313
NM_002230.4(JUP):c.436G>T (p.Glu146Ter) rs146581757
NM_002230.4(JUP):c.457G>A (p.Asp153Asn)
NM_002230.4(JUP):c.468+4T>C rs782412433
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.476T>C (p.Val159Ala)
NM_002230.4(JUP):c.484G>T (p.Ala162Ser) rs1555605437
NM_002230.4(JUP):c.527G>T (p.Arg176Leu)
NM_002230.4(JUP):c.539T>G (p.Met180Arg)
NM_002230.4(JUP):c.542G>T (p.Gly181Val) rs1555605325
NM_002230.4(JUP):c.54G>C (p.Gln18His)
NM_002230.4(JUP):c.568G>C (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.595del (p.Leu199fs)
NM_002230.4(JUP):c.622A>G (p.Ile208Val)
NM_002230.4(JUP):c.631_633del (p.Asn211del) rs1916151526
NM_002230.4(JUP):c.634C>G (p.Leu212Val)
NM_002230.4(JUP):c.643C>T (p.His215Tyr)
NM_002230.4(JUP):c.652G>C (p.Gly218Arg) rs1597823588
NM_002230.4(JUP):c.67G>A (p.Asp23Asn)
NM_002230.4(JUP):c.69C>G (p.Asp23Glu)
NM_002230.4(JUP):c.707+2T>C
NM_002230.4(JUP):c.707+3delinsGAGCCCATCAGTGAG
NM_002230.4(JUP):c.716T>C (p.Val239Ala)
NM_002230.4(JUP):c.722C>T (p.Ser241Leu)
NM_002230.4(JUP):c.73G>A (p.Gly25Ser)
NM_002230.4(JUP):c.743C>A (p.Thr248Asn)
NM_002230.4(JUP):c.773A>G (p.Glu258Gly) rs794729052
NM_002230.4(JUP):c.78C>G (p.Ile26Met)
NM_002230.4(JUP):c.800C>A (p.Ala267Asp)
NM_002230.4(JUP):c.820G>A (p.Val274Met) rs1555604537
NM_002230.4(JUP):c.862A>G (p.Thr288Ala)
NM_002230.4(JUP):c.880C>T (p.Leu294Phe)
NM_002230.4(JUP):c.909+1del
NM_002230.4(JUP):c.916A>G (p.Ile306Val)
NM_002230.4(JUP):c.916del (p.Ile306fs)
NM_002230.4(JUP):c.927T>A (p.Asn309Lys)
NM_002230.4(JUP):c.941C>G (p.Ala314Gly) rs201214805
NM_002230.4(JUP):c.957G>A (p.Met319Ile)
NM_002230.4(JUP):c.95C>T (p.Thr32Ile)
NM_002294.3(LAMP2):c.1015G>C (p.Val339Leu) rs1602532154
NM_002294.3(LAMP2):c.1040C>G (p.Thr347Ser) rs730880487
NM_002294.3(LAMP2):c.1094-1G>C rs1331940434
NM_002294.3(LAMP2):c.1105A>G (p.Ser369Gly)
NM_002294.3(LAMP2):c.1204C>T (p.His402Tyr)
NM_002294.3(LAMP2):c.199T>C (p.Ser67Pro) rs2147286966
NM_002294.3(LAMP2):c.25G>C (p.Val9Leu) rs1921665698
NM_002294.3(LAMP2):c.260A>G (p.Lys87Arg)
NM_002294.3(LAMP2):c.281C>A (p.Pro94His)
NM_002294.3(LAMP2):c.316G>A (p.Ala106Thr) rs1305798857
NM_002294.3(LAMP2):c.371C>T (p.Thr124Ile) rs397516744
NM_002294.3(LAMP2):c.49G>A (p.Val17Ile) rs777718603
NM_002294.3(LAMP2):c.617C>T (p.Pro206Leu) rs1602535864
NM_002294.3(LAMP2):c.632C>T (p.Thr211Ile)
NM_002294.3(LAMP2):c.638C>T (p.Thr213Ile)
NM_002294.3(LAMP2):c.676A>G (p.Asn226Asp)
NM_002294.3(LAMP2):c.710T>A (p.Met237Lys)
NM_002294.3(LAMP2):c.741G>A (p.Lys247=)
NM_002294.3(LAMP2):c.741G>T (p.Lys247Asn) rs1556101296
NM_002294.3(LAMP2):c.802C>T (p.His268Tyr)
NM_002294.3(LAMP2):c.864+5G>T rs1352584474
NM_002294.3(LAMP2):c.887T>G (p.Leu296Arg) rs730880486
NM_002294.3(LAMP2):c.8G>C (p.Cys3Ser)
NM_002294.3(LAMP2):c.970C>T (p.Pro324Ser) rs866736614
NM_002294.3(LAMP2):c.9C>T (p.Cys3=)
NM_002317.7(LOX):c.100G>C (p.Glu34Gln)
NM_002317.7(LOX):c.1028A>T (p.His343Leu)
NM_002317.7(LOX):c.1034A>G (p.Gln345Arg)
NM_002317.7(LOX):c.1035+4T>C rs763804503
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg) rs1561417568
NM_002317.7(LOX):c.1111C>G (p.Pro371Ala) rs1754418435
NM_002317.7(LOX):c.1175C>T (p.Thr392Ile)
NM_002317.7(LOX):c.1219G>A (p.Ala407Thr)
NM_002317.7(LOX):c.1232G>T (p.Gly411Val)
NM_002317.7(LOX):c.1247+1G>C
NM_002317.7(LOX):c.128G>A (p.Arg43His)
NM_002317.7(LOX):c.144G>C (p.Trp48Cys)
NM_002317.7(LOX):c.154G>A (p.Gly52Arg)
NM_002317.7(LOX):c.154G>T (p.Gly52Trp)
NM_002317.7(LOX):c.189G>T (p.Gln63His)
NM_002317.7(LOX):c.209G>A (p.Arg70Gln)
NM_002317.7(LOX):c.213C>G (p.Asp71Glu)
NM_002317.7(LOX):c.233G>C (p.Gly78Ala)
NM_002317.7(LOX):c.256C>A (p.Gln86Lys)
NM_002317.7(LOX):c.275T>C (p.Leu92Pro)
NM_002317.7(LOX):c.298G>A (p.Ala100Thr)
NM_002317.7(LOX):c.311C>A (p.Thr104Lys)
NM_002317.7(LOX):c.314G>T (p.Arg105Leu)
NM_002317.7(LOX):c.316A>C (p.Thr106Pro)
NM_002317.7(LOX):c.319G>A (p.Ala107Thr)
NM_002317.7(LOX):c.334G>C (p.Val112Leu)
NM_002317.7(LOX):c.359C>T (p.Thr120Ile)
NM_002317.7(LOX):c.361G>C (p.Ala121Pro)
NM_002317.7(LOX):c.398G>C (p.Arg133Thr)
NM_002317.7(LOX):c.431A>G (p.Asn144Ser) rs1358871918
NM_002317.7(LOX):c.43C>T (p.Leu15Phe)
NM_002317.7(LOX):c.454C>G (p.Pro152Ala)
NM_002317.7(LOX):c.464G>T (p.Ser155Ile)
NM_002317.7(LOX):c.484C>T (p.Arg162Cys) rs2152591293
NM_002317.7(LOX):c.496A>G (p.Met166Val)
NM_002317.7(LOX):c.50C>A (p.Ala17Glu)
NM_002317.7(LOX):c.521C>A (p.Pro174His)
NM_002317.7(LOX):c.548A>T (p.Tyr183Phe)
NM_002317.7(LOX):c.566C>T (p.Thr189Ile)
NM_002317.7(LOX):c.599G>A (p.Arg200Gln)
NM_002317.7(LOX):c.607T>C (p.Tyr203His)
NM_002317.7(LOX):c.634C>A (p.Leu212Ile)
NM_002317.7(LOX):c.668A>G (p.Gln223Arg) rs1312701230
NM_002317.7(LOX):c.736G>T (p.Ala246Ser)
NM_002317.7(LOX):c.740+5G>A
NM_002317.7(LOX):c.797C>A (p.Pro266His)
NM_002317.7(LOX):c.823T>A (p.Ser275Thr)
NM_002317.7(LOX):c.842G>C (p.Arg281Pro) rs1470075358
NM_002317.7(LOX):c.844C>G (p.Pro282Ala)
NM_002317.7(LOX):c.923A>T (p.Asp308Val)
NM_002471.4(MYH6):c.-4C>G
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly) rs138572790
NM_002471.4(MYH6):c.1031C>T (p.Ser344Leu)
NM_002471.4(MYH6):c.1034A>T (p.Glu345Val) rs561344265
NM_002471.4(MYH6):c.1056G>C (p.Lys352Asn)
NM_002471.4(MYH6):c.1061C>T (p.Thr354Met)
NM_002471.4(MYH6):c.1078T>C (p.Tyr360His)
NM_002471.4(MYH6):c.1142-4C>G
NM_002471.4(MYH6):c.1156G>A (p.Ala386Thr)
NM_002471.4(MYH6):c.1185C>A (p.Asp395Glu) rs201822160
NM_002471.4(MYH6):c.1225A>C (p.Asn409His) rs2138612545
NM_002471.4(MYH6):c.1227C>A (p.Asn409Lys)
NM_002471.4(MYH6):c.1249A>T (p.Ser417Cys) rs199754151
NM_002471.4(MYH6):c.1265A>G (p.Tyr422Cys) rs1891578725
NM_002471.4(MYH6):c.1308G>A (p.Met436Ile) rs1891577130
NM_002471.4(MYH6):c.1321G>A (p.Val441Met)
NM_002471.4(MYH6):c.1338dup (p.Thr447fs)
NM_002471.4(MYH6):c.1353del (p.Lys451fs)
NM_002471.4(MYH6):c.1361G>A (p.Arg454His)
NM_002471.4(MYH6):c.1408G>A (p.Asp470Asn) rs777651128
NM_002471.4(MYH6):c.1422T>G (p.Phe474Leu)
NM_002471.4(MYH6):c.145G>A (p.Ala49Thr)
NM_002471.4(MYH6):c.1486G>C (p.Val496Leu) rs761085263
NM_002471.4(MYH6):c.1489C>A (p.Leu497Met) rs1315813996
NM_002471.4(MYH6):c.1497G>C (p.Gln499His)
NM_002471.4(MYH6):c.1500G>C (p.Glu500Asp) rs372073959
NM_002471.4(MYH6):c.1521T>G (p.Ile507Met) rs142410102
NM_002471.4(MYH6):c.1522G>C (p.Glu508Gln)
NM_002471.4(MYH6):c.1531T>A (p.Phe511Ile)
NM_002471.4(MYH6):c.1555C>T (p.Gln519Ter)
NM_002471.4(MYH6):c.1600A>G (p.Ile534Val)
NM_002471.4(MYH6):c.1633A>G (p.Thr545Ala)
NM_002471.4(MYH6):c.1637A>T (p.Asp546Val) rs1290826704
NM_002471.4(MYH6):c.1639A>T (p.Met547Leu)
NM_002471.4(MYH6):c.1650G>C (p.Lys550Asn)
NM_002471.4(MYH6):c.1708A>T (p.Ile570Phe) rs1595060558
NM_002471.4(MYH6):c.175del (p.Val59fs)
NM_002471.4(MYH6):c.1789A>G (p.Lys597Glu)
NM_002471.4(MYH6):c.1794C>A (p.Asn598Lys)
NM_002471.4(MYH6):c.1817T>C (p.Val606Ala)
NM_002471.4(MYH6):c.1854G>A (p.Met618Ile)
NM_002471.4(MYH6):c.1854G>T (p.Met618Ile)
NM_002471.4(MYH6):c.1868CCT[1] (p.Ser624del) rs1183656896
NM_002471.4(MYH6):c.1907G>A (p.Ser636Asn)
NM_002471.4(MYH6):c.1934C>T (p.Ser645Phe)
NM_002471.4(MYH6):c.1946T>C (p.Val649Ala)
NM_002471.4(MYH6):c.1949C>T (p.Ser650Leu) rs372300127
NM_002471.4(MYH6):c.1988A>G (p.Asn663Ser)
NM_002471.4(MYH6):c.2002C>T (p.His668Tyr) rs1351249262
NM_002471.4(MYH6):c.2012T>C (p.Phe671Ser)
NM_002471.4(MYH6):c.2026A>T (p.Ile676Phe)
NM_002471.4(MYH6):c.2028C>G (p.Ile676Met)
NM_002471.4(MYH6):c.2038C>T (p.Arg680Trp)
NM_002471.4(MYH6):c.2044G>A (p.Ala682Thr)
NM_002471.4(MYH6):c.204G>A (p.Thr68=)
NM_002471.4(MYH6):c.2050+3G>A
NM_002471.4(MYH6):c.2068C>A (p.Leu690Met)
NM_002471.4(MYH6):c.2068del (p.Leu690fs) rs779614256
NM_002471.4(MYH6):c.206T>A (p.Val69Glu)
NM_002471.4(MYH6):c.2104G>C (p.Glu702Gln)
NM_002471.4(MYH6):c.2114G>A (p.Arg705His) rs754654593
NM_002471.4(MYH6):c.2119T>G (p.Cys707Gly)
NM_002471.4(MYH6):c.2141G>T (p.Arg714Leu) rs776602843
NM_002471.4(MYH6):c.2143A>G (p.Ile715Val)
NM_002471.4(MYH6):c.2185C>T (p.Pro729Ser) rs2138604067
NM_002471.4(MYH6):c.2212A>G (p.Ile738Val)
NM_002471.4(MYH6):c.2242C>T (p.Leu748Phe)
NM_002471.4(MYH6):c.2247C>G (p.Ser749Arg)
NM_002471.4(MYH6):c.2249C>T (p.Ser750Phe)
NM_002471.4(MYH6):c.2272T>A (p.Tyr758Asn)
NM_002471.4(MYH6):c.2312T>G (p.Leu771Arg)
NM_002471.4(MYH6):c.2335C>T (p.Arg779Trp)
NM_002471.4(MYH6):c.2338G>A (p.Asp780Asn)
NM_002471.4(MYH6):c.2368A>C (p.Met790Leu)
NM_002471.4(MYH6):c.2369T>C (p.Met790Thr)
NM_002471.4(MYH6):c.2374G>A (p.Ala792Thr)
NM_002471.4(MYH6):c.2399G>T (p.Arg800Leu) rs535438755
NM_002471.4(MYH6):c.2401A>T (p.Ile801Phe) rs75487328
NM_002471.4(MYH6):c.2402T>C (p.Ile801Thr) rs1447782770
NM_002471.4(MYH6):c.2406G>C (p.Glu802Asp) rs1566511224
NM_002471.4(MYH6):c.2407T>C (p.Phe803Leu)
NM_002471.4(MYH6):c.2419G>T (p.Val807Leu)
NM_002471.4(MYH6):c.2425C>T (p.Arg809Cys)
NM_002471.4(MYH6):c.2430-5G>A
NM_002471.4(MYH6):c.2432A>T (p.Asp811Val)
NM_002471.4(MYH6):c.2440C>A (p.Leu814Met) rs150675144
NM_002471.4(MYH6):c.2440del (p.Leu814fs)
NM_002471.4(MYH6):c.245C>T (p.Pro82Leu) rs529427223
NM_002471.4(MYH6):c.2494A>G (p.Met832Val)
NM_002471.4(MYH6):c.2529G>C (p.Lys843Asn)
NM_002471.4(MYH6):c.252C>A (p.Phe84Leu)
NM_002471.4(MYH6):c.2572T>G (p.Phe858Val) rs2138599736
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.2578C>T (p.Arg860Cys) rs1025146248
NM_002471.4(MYH6):c.2587G>C (p.Glu863Gln)
NM_002471.4(MYH6):c.2597A>G (p.Glu866Gly) rs886039171
NM_002471.4(MYH6):c.2636T>C (p.Met879Thr)
NM_002471.4(MYH6):c.2637G>T (p.Met879Ile)
NM_002471.4(MYH6):c.2683G>A (p.Ala895Thr)
NM_002471.4(MYH6):c.2686-5C>T
NM_002471.4(MYH6):c.2701A>G (p.Asn901Asp)
NM_002471.4(MYH6):c.2702A>G (p.Asn901Ser) rs1891315952
NM_002471.4(MYH6):c.2710G>A (p.Glu904Lys)
NM_002471.4(MYH6):c.2716C>A (p.Arg906Ser) rs143928061
NM_002471.4(MYH6):c.2717G>A (p.Arg906His) rs527636904
NM_002471.4(MYH6):c.2717G>T (p.Arg906Leu) rs527636904
NM_002471.4(MYH6):c.2724C>G (p.Asp908Glu)
NM_002471.4(MYH6):c.2728C>A (p.Leu910Met)
NM_002471.4(MYH6):c.2747A>G (p.Gln916Arg)
NM_002471.4(MYH6):c.2750T>C (p.Leu917Pro)
NM_002471.4(MYH6):c.275T>C (p.Met92Thr)
NM_002471.4(MYH6):c.2771T>A (p.Met924Lys) rs746669440
NM_002471.4(MYH6):c.2790T>A (p.Asp930Glu)
NM_002471.4(MYH6):c.2791GAG[2] (p.Glu933del)
NM_002471.4(MYH6):c.2806G>A (p.Ala936Thr) rs141704264
NM_002471.4(MYH6):c.2822A>G (p.Lys941Arg)
NM_002471.4(MYH6):c.2852A>G (p.Glu951Gly) rs1360691146
NM_002471.4(MYH6):c.2854C>T (p.Leu952Phe)
NM_002471.4(MYH6):c.2884A>G (p.Thr962Ala)
NM_002471.4(MYH6):c.2923A>T (p.Asn975Tyr) rs2138598703
NM_002471.4(MYH6):c.2925C>A (p.Asn975Lys)
NM_002471.4(MYH6):c.2929-5G>A
NM_002471.4(MYH6):c.2954C>T (p.Ala985Val)
NM_002471.4(MYH6):c.2999C>T (p.Ala1000Val)
NM_002471.4(MYH6):c.3025C>G (p.Leu1009Val)
NM_002471.4(MYH6):c.3049G>A (p.Asp1017Asn) rs1555333948
NM_002471.4(MYH6):c.304C>A (p.Leu102Ile)
NM_002471.4(MYH6):c.3062G>T (p.Ser1021Ile)
NM_002471.4(MYH6):c.3085C>G (p.Leu1029Val) rs1044563809
NM_002471.4(MYH6):c.3105+5G>C
NM_002471.4(MYH6):c.3106-4A>T
NM_002471.4(MYH6):c.3136G>C (p.Val1046Leu)
NM_002471.4(MYH6):c.3139C>A (p.Arg1047Ser)
NM_002471.4(MYH6):c.3196G>C (p.Glu1066Gln)
NM_002471.4(MYH6):c.3203T>C (p.Ile1068Thr) rs777320756
NM_002471.4(MYH6):c.3206T>C (p.Met1069Thr)
NM_002471.4(MYH6):c.3243G>T (p.Lys1081Asn) rs1555333894
NM_002471.4(MYH6):c.3257A>G (p.Glu1086Gly)
NM_002471.4(MYH6):c.3266T>C (p.Ile1089Thr)
NM_002471.4(MYH6):c.3298C>T (p.Gln1100Ter)
NM_002471.4(MYH6):c.3301G>A (p.Val1101Met)
NM_002471.4(MYH6):c.3343-3del rs1027186100
NM_002471.4(MYH6):c.3343G>A (p.Ala1115Thr)
NM_002471.4(MYH6):c.3346C>G (p.Arg1116Gly)
NM_002471.4(MYH6):c.3346C>T (p.Arg1116Cys) rs372446459
NM_002471.4(MYH6):c.3352G>C (p.Glu1118Gln)
NM_002471.4(MYH6):c.3410T>G (p.Leu1137Arg)
NM_002471.4(MYH6):c.3412C>T (p.Arg1138Cys) rs1368246967
NM_002471.4(MYH6):c.3418G>C (p.Asp1140His)
NM_002471.4(MYH6):c.341T>C (p.Ile114Thr)
NM_002471.4(MYH6):c.3428G>A (p.Arg1143Gln) rs543585784
NM_002471.4(MYH6):c.342A>G (p.Ile114Met)
NM_002471.4(MYH6):c.3437dup (p.Glu1147fs) rs397516761
NM_002471.4(MYH6):c.3448G>C (p.Glu1150Gln)
NM_002471.4(MYH6):c.345+3G>C
NM_002471.4(MYH6):c.3451C>T (p.Arg1151Trp)
NM_002471.4(MYH6):c.3455T>C (p.Leu1152Pro)
NM_002471.4(MYH6):c.3460G>C (p.Glu1154Gln)
NM_002471.4(MYH6):c.3466G>A (p.Gly1156Ser)
NM_002471.4(MYH6):c.3469G>T (p.Gly1157Trp)
NM_002471.4(MYH6):c.3481G>T (p.Val1161Leu)
NM_002471.4(MYH6):c.3489C>G (p.Ile1163Met) rs764540332
NM_002471.4(MYH6):c.3492G>T (p.Glu1164Asp)
NM_002471.4(MYH6):c.3514G>A (p.Glu1172Lys)
NM_002471.4(MYH6):c.3515A>T (p.Glu1172Val)
NM_002471.4(MYH6):c.3542A>T (p.Glu1181Val)
NM_002471.4(MYH6):c.3560A>G (p.His1187Arg)
NM_002471.4(MYH6):c.3578C>T (p.Ala1193Val) rs1038940910
NM_002471.4(MYH6):c.3583C>A (p.Arg1195Ser) rs769756450
NM_002471.4(MYH6):c.3586A>T (p.Lys1196Ter)
NM_002471.4(MYH6):c.3598G>A (p.Asp1200Asn) rs372794975
NM_002471.4(MYH6):c.3601_3605del (p.Ser1201fs)
NM_002471.4(MYH6):c.3641G>A (p.Arg1214Gln)
NM_002471.4(MYH6):c.3671G>A (p.Ser1224Asn) rs1342875025
NM_002471.4(MYH6):c.3709A>G (p.Met1237Val)
NM_002471.4(MYH6):c.3711G>A (p.Met1237Ile)
NM_002471.4(MYH6):c.3723C>G (p.Ile1241Met)
NM_002471.4(MYH6):c.3732+5G>C rs1891184026
NM_002471.4(MYH6):c.3733-2A>G
NM_002471.4(MYH6):c.3733-3A>G
NM_002471.4(MYH6):c.3734C>T (p.Ala1245Val)
NM_002471.4(MYH6):c.3754C>T (p.Arg1252Trp) rs2138591811
NM_002471.4(MYH6):c.3802G>A (p.Ala1268Thr) rs777331087
NM_002471.4(MYH6):c.3803C>G (p.Ala1268Gly)
NM_002471.4(MYH6):c.3820G>T (p.Asp1274Tyr)
NM_002471.4(MYH6):c.3822T>A (p.Asp1274Glu)
NM_002471.4(MYH6):c.3826A>T (p.Thr1276Ser)
NM_002471.4(MYH6):c.3844C>G (p.Leu1282Val) rs1425090608
NM_002471.4(MYH6):c.3857A>T (p.Asn1286Ile) rs772586397
NM_002471.4(MYH6):c.3913C>T (p.Arg1305Trp)
NM_002471.4(MYH6):c.3914G>A (p.Arg1305Gln)
NM_002471.4(MYH6):c.3971A>C (p.Glu1324Ala)
NM_002471.4(MYH6):c.3974G>A (p.Gly1325Asp)
NM_002471.4(MYH6):c.3978+5G>C
NM_002471.4(MYH6):c.3995C>T (p.Ala1332Val) rs876657876
NM_002471.4(MYH6):c.4013C>T (p.Ala1338Val)
NM_002471.4(MYH6):c.4026C>A (p.Cys1342Ter) rs141062252
NM_002471.4(MYH6):c.4037G>A (p.Arg1346Gln)
NM_002471.4(MYH6):c.4047C>A (p.Tyr1349Ter) rs570555040
NM_002471.4(MYH6):c.404A>G (p.Asn135Ser)
NM_002471.4(MYH6):c.4070C>T (p.Ala1357Val)
NM_002471.4(MYH6):c.4072G>A (p.Glu1358Lys)
NM_002471.4(MYH6):c.4081C>T (p.Arg1361Cys)
NM_002471.4(MYH6):c.4087C>A (p.Leu1363Met)
NM_002471.4(MYH6):c.4103C>T (p.Ser1368Leu) rs778374207
NM_002471.4(MYH6):c.4109T>A (p.Val1370Glu)
NM_002471.4(MYH6):c.4140C>A (p.Asp1380Glu) rs199672166
NM_002471.4(MYH6):c.4169A>G (p.Glu1390Gly)
NM_002471.4(MYH6):c.416T>C (p.Val139Ala)
NM_002471.4(MYH6):c.4207G>A (p.Glu1403Lys) rs769398160
NM_002471.4(MYH6):c.4256C>A (p.Thr1419Asn)
NM_002471.4(MYH6):c.427C>G (p.Arg143Gly)
NM_002471.4(MYH6):c.4284G>T (p.Glu1428Asp)
NM_002471.4(MYH6):c.4306C>T (p.Arg1436Cys) rs746893658
NM_002471.4(MYH6):c.4307G>T (p.Arg1436Leu)
NM_002471.4(MYH6):c.4318G>C (p.Ala1440Pro) rs137983703
NM_002471.4(MYH6):c.4346G>A (p.Arg1449Lys)
NM_002471.4(MYH6):c.4352T>C (p.Phe1451Ser)
NM_002471.4(MYH6):c.4360-3C>T
NM_002471.4(MYH6):c.4373G>A (p.Trp1458Ter)
NM_002471.4(MYH6):c.4374G>A (p.Trp1458Ter)
NM_002471.4(MYH6):c.437A>G (p.Lys146Arg) rs1555335081
NM_002471.4(MYH6):c.4390_4391inv (p.Glu1464Ser)
NM_002471.4(MYH6):c.4391A>C (p.Glu1464Ala)
NM_002471.4(MYH6):c.4395_4396delinsAG (p.Gln1466Glu) rs1555333437
NM_002471.4(MYH6):c.4418A>G (p.Gln1473Arg)
NM_002471.4(MYH6):c.4429C>G (p.Arg1477Gly) rs201989347
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) rs201989347
NM_002471.4(MYH6):c.4430G>A (p.Arg1477His) rs147586142
NM_002471.4(MYH6):c.4476G>C (p.Glu1492Asp)
NM_002471.4(MYH6):c.449C>T (p.Ala150Val)
NM_002471.4(MYH6):c.4511A>G (p.Asn1504Ser)
NM_002471.4(MYH6):c.4512C>A (p.Asn1504Lys)
NM_002471.4(MYH6):c.4594C>G (p.Arg1532Gly)
NM_002471.4(MYH6):c.4595G>A (p.Arg1532His) rs34330111
NM_002471.4(MYH6):c.4599A>C (p.Lys1533Asn)
NM_002471.4(MYH6):c.4604T>G (p.Leu1535Arg) rs886039002
NM_002471.4(MYH6):c.4609G>A (p.Val1537Met)
NM_002471.4(MYH6):c.4629G>C (p.Gln1543His) rs1177280918
NM_002471.4(MYH6):c.4644G>T (p.Glu1548Asp)
NM_002471.4(MYH6):c.4651-5C>T
NM_002471.4(MYH6):c.4665C>A (p.His1555Gln) rs373888186
NM_002471.4(MYH6):c.4665C>G (p.His1555Gln)
NM_002471.4(MYH6):c.4685G>T (p.Arg1562Leu) rs371068881
NM_002471.4(MYH6):c.4708A>G (p.Ile1570Val) rs1258827113
NM_002471.4(MYH6):c.4723G>C (p.Glu1575Gln)
NM_002471.4(MYH6):c.4726C>T (p.Arg1576Trp)
NM_002471.4(MYH6):c.4742A>G (p.Lys1581Arg)
NM_002471.4(MYH6):c.4746C>G (p.Asp1582Glu)
NM_002471.4(MYH6):c.4753A>T (p.Met1585Leu)
NM_002471.4(MYH6):c.4757A>T (p.Glu1586Val)
NM_002471.4(MYH6):c.4768C>T (p.Arg1590Cys)
NM_002471.4(MYH6):c.4794G>A (p.Ser1598=)
NM_002471.4(MYH6):c.4821_4822del (p.Arg1608fs) rs764543612
NM_002471.4(MYH6):c.4845G>T (p.Arg1615Ser)
NM_002471.4(MYH6):c.4850A>C (p.Lys1617Thr)
NM_002471.4(MYH6):c.4883A>T (p.Glu1628Val)
NM_002471.4(MYH6):c.4891C>T (p.Leu1631Phe)
NM_002471.4(MYH6):c.4925A>C (p.Gln1642Pro) rs1487346307
NM_002471.4(MYH6):c.4946A>G (p.Gln1649Arg)
NM_002471.4(MYH6):c.4959+5A>G
NM_002471.4(MYH6):c.4975C>G (p.Leu1659Val)
NM_002471.4(MYH6):c.4988T>A (p.Val1663Asp)
NM_002471.4(MYH6):c.5002G>C (p.Asp1668His) rs200884672
NM_002471.4(MYH6):c.5004C>A (p.Asp1668Glu)
NM_002471.4(MYH6):c.502+3G>A
NM_002471.4(MYH6):c.5032C>T (p.Arg1678Trp)
NM_002471.4(MYH6):c.5050C>T (p.Gln1684Ter) rs1849911056
NM_002471.4(MYH6):c.5090C>T (p.Thr1697Ile)
NM_002471.4(MYH6):c.5096G>T (p.Arg1699Leu)
NM_002471.4(MYH6):c.5102G>T (p.Arg1701Leu)
NM_002471.4(MYH6):c.5134A>C (p.Ser1712Arg)
NM_002471.4(MYH6):c.5137G>C (p.Glu1713Gln) rs369275573
NM_002471.4(MYH6):c.5140C>T (p.Arg1714Trp) rs140651265
NM_002471.4(MYH6):c.5148G>T (p.Gln1716His)
NM_002471.4(MYH6):c.5153T>A (p.Leu1718Gln)
NM_002471.4(MYH6):c.5167A>G (p.Thr1723Ala)
NM_002471.4(MYH6):c.5182C>G (p.Gln1728Glu)
NM_002471.4(MYH6):c.5183AGA[3] (p.Lys1731del) rs886039114
NM_002471.4(MYH6):c.5192A>T (p.Lys1731Met) rs757373258
NM_002471.4(MYH6):c.5260G>A (p.Glu1754Lys) rs372270600
NM_002471.4(MYH6):c.5260G>C (p.Glu1754Gln) rs372270600
NM_002471.4(MYH6):c.5260GAG[1] (p.Glu1755del)
NM_002471.4(MYH6):c.5264A>G (p.Glu1755Gly) rs2138582278
NM_002471.4(MYH6):c.5301G>A (p.Met1767Ile)
NM_002471.4(MYH6):c.5307G>C (p.Glu1769Asp)
NM_002471.4(MYH6):c.5335G>T (p.Ala1779Ser)
NM_002471.4(MYH6):c.5336C>T (p.Ala1779Val)
NM_002471.4(MYH6):c.5338C>T (p.His1780Tyr) rs1046257632
NM_002471.4(MYH6):c.5374A>G (p.Ile1792Val)
NM_002471.4(MYH6):c.5392C>T (p.Arg1798Trp) rs767251436
NM_002471.4(MYH6):c.5400C>G (p.Asp1800Glu)
NM_002471.4(MYH6):c.5416G>A (p.Ala1806Thr)
NM_002471.4(MYH6):c.5435dup (p.Gln1813fs) rs1324433778
NM_002471.4(MYH6):c.5439G>T (p.Gln1813His)
NM_002471.4(MYH6):c.5444A>C (p.Gln1815Pro)
NM_002471.4(MYH6):c.544G>A (p.Ala182Thr)
NM_002471.4(MYH6):c.5454A>T (p.Glu1818Asp)
NM_002471.4(MYH6):c.5476G>C (p.Gly1826Arg) rs202141059
NM_002471.4(MYH6):c.5489C>T (p.Ala1830Val)
NM_002471.4(MYH6):c.5536G>A (p.Glu1846Lys)
NM_002471.4(MYH6):c.5551G>A (p.Glu1851Lys)
NM_002471.4(MYH6):c.5586C>G (p.Asn1862Lys)
NM_002471.4(MYH6):c.5644C>T (p.Arg1882Cys)
NM_002471.4(MYH6):c.5662-2A>G rs2138578417
NM_002471.4(MYH6):c.5677A>G (p.Thr1893Ala)
NM_002471.4(MYH6):c.5692T>G (p.Phe1898Val) rs762923098
NM_002471.4(MYH6):c.569G>A (p.Arg190His) rs1891729151
NM_002471.4(MYH6):c.5743G>A (p.Ala1915Thr)
NM_002471.4(MYH6):c.5791G>A (p.Ala1931Thr)
NM_002471.4(MYH6):c.5792C>T (p.Ala1931Val)
NM_002471.4(MYH6):c.5796+4G>A
NM_002471.4(MYH6):c.616AAG[1] (p.Lys207del) rs1404018896
NM_002471.4(MYH6):c.631A>T (p.Asn211Tyr)
NM_002471.4(MYH6):c.633T>A (p.Asn211Lys) rs886039039
NM_002471.4(MYH6):c.642+3G>A rs374013248
NM_002471.4(MYH6):c.647C>A (p.Thr216Asn) rs1448960877
NM_002471.4(MYH6):c.689C>T (p.Ala230Val)
NM_002471.4(MYH6):c.745A>G (p.Ile249Val)
NM_002471.4(MYH6):c.754C>T (p.His252Tyr) rs1595063510
NM_002471.4(MYH6):c.776T>C (p.Leu259Pro)
NM_002471.4(MYH6):c.86G>T (p.Arg29Leu) rs150574114
NM_002471.4(MYH6):c.880AAG[1] (p.Lys295del)
NM_002471.4(MYH6):c.902T>C (p.Met301Thr) rs1555334802
NM_002471.4(MYH6):c.92T>C (p.Phe31Ser)
NM_002471.4(MYH6):c.94G>C (p.Asp32His)
NM_002471.4(MYH6):c.968C>G (p.Ser323Cys)
NM_002471.4(MYH6):c.978C>A (p.Asp326Glu)
NM_002471.4(MYH6):c.986A>T (p.Glu329Val)
NM_002474.3(MYH11):c.1115T>C (p.Met372Thr) rs886038835
NM_002474.3(MYH11):c.1318G>A (p.Val440Met) rs886038900
NM_002474.3(MYH11):c.2692G>A (p.Ala898Thr) rs772769846
NM_002474.3(MYH11):c.3358A>G (p.Ile1120Val) rs886038788
NM_002474.3(MYH11):c.3651+5_3651+11delinsG rs371843272
NM_002474.3(MYH11):c.811G>A (p.Ala271Thr) rs886038851
NM_002524.5(NRAS):c.107T>C (p.Ile36Thr)
NM_002524.5(NRAS):c.380C>G (p.Thr127Arg) rs779899354
NM_002667.5(PLN):c.114C>G (p.Ile38Met)
NM_002667.5(PLN):c.126_127del (p.Leu43fs)
NM_002667.5(PLN):c.131T>C (p.Leu44Pro) rs794729210
NM_002667.5(PLN):c.150G>A (p.Met50Ile)
NM_002667.5(PLN):c.150_159delinsAC (p.Met50fs)
NM_002667.5(PLN):c.154C>A (p.Leu52Ile) rs2114970391
NM_002667.5(PLN):c.35T>C (p.Ile12Thr)
NM_002667.5(PLN):c.35dup (p.Arg13fs)
NM_002667.5(PLN):c.38G>A (p.Arg13Lys)
NM_002667.5(PLN):c.56A>G (p.Glu19Gly) rs2114969791
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_002667.5(PLN):c.87G>T (p.Gln29His)
NM_002709.3(PPP1CB):c.136C>T (p.Leu46Phe)
NM_002755.4(MAP2K1):c.1067T>C (p.Met356Thr)
NM_002755.4(MAP2K1):c.280A>G (p.Met94Val)
NM_002755.4(MAP2K1):c.43C>G (p.Pro15Ala)
NM_002755.4(MAP2K1):c.801T>A (p.Asp267Glu)
NM_002755.4(MAP2K1):c.877C>G (p.Pro293Ala)
NM_002755.4(MAP2K1):c.950T>C (p.Ile317Thr)
NM_002755.4(MAP2K1):c.95C>T (p.Ala32Val)
NM_002755.4(MAP2K1):c.967C>T (p.Pro323Ser)
NM_002834.5(PTPN11):c.1027C>T (p.Arg343Trp) rs1373621596
NM_002834.5(PTPN11):c.1093-3C>T
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641
NM_002834.5(PTPN11):c.1148T>C (p.Met383Thr) rs1260386432
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.5(PTPN11):c.1320G>C (p.Glu440Asp)
NM_002834.5(PTPN11):c.1349T>C (p.Met450Thr) rs2135912854
NM_002834.5(PTPN11):c.1448-5C>T rs554790621
NM_002834.5(PTPN11):c.1495T>G (p.Ser499Ala)
NM_002834.5(PTPN11):c.1540A>G (p.Ile514Val)
NM_002834.5(PTPN11):c.1546A>G (p.Met516Val)
NM_002834.5(PTPN11):c.1552G>T (p.Val518Phe)
NM_002834.5(PTPN11):c.1566T>G (p.Ile522Met)
NM_002834.5(PTPN11):c.1580G>A (p.Arg527His) rs770363146
NM_002834.5(PTPN11):c.1599+4C>A rs142606486
NM_002834.5(PTPN11):c.1676C>T (p.Pro559Leu)
NM_002834.5(PTPN11):c.1720G>A (p.Glu574Lys)
NM_002834.5(PTPN11):c.1763A>G (p.Gln588Arg)
NM_002834.5(PTPN11):c.185A>G (p.Tyr62Cys)
NM_002834.5(PTPN11):c.18G>C (p.Trp6Cys)
NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_002834.5(PTPN11):c.28A>G (p.Asn10Asp) rs368633510
NM_002834.5(PTPN11):c.28A>T (p.Asn10Tyr)
NM_002834.5(PTPN11):c.302C>T (p.Pro101Leu)
NM_002834.5(PTPN11):c.397G>A (p.Gly133Ser)
NM_002834.5(PTPN11):c.470A>G (p.Lys157Arg) rs1315568280
NM_002834.5(PTPN11):c.479G>A (p.Ser160Asn) rs1044076600
NM_002834.5(PTPN11):c.517C>T (p.Arg173Cys)
NM_002834.5(PTPN11):c.557G>A (p.Arg186Gln)
NM_002834.5(PTPN11):c.575A>G (p.Asp192Gly) rs2135869587
NM_002834.5(PTPN11):c.710C>T (p.Ala237Val)
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys) rs763617831
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
NM_002834.5(PTPN11):c.889C>G (p.Pro297Ala)
NM_002834.5(PTPN11):c.898C>A (p.Pro300Thr)
NM_002834.5(PTPN11):c.934C>A (p.Pro312Thr)
NM_002834.5(PTPN11):c.950A>G (p.Lys317Arg)
NM_002834.5(PTPN11):c.955A>G (p.Asn319Asp) rs2038531520
NM_002880.3(RAF1):c.1109_1111delGAG
NM_002880.4(RAF1):c.1019A>G (p.Tyr340Cys) rs2058798881
NM_002880.4(RAF1):c.113A>C (p.Tyr38Ser) rs576041742
NM_002880.4(RAF1):c.1148C>A (p.Thr383Asn)
NM_002880.4(RAF1):c.1156C>G (p.Gln386Glu)
NM_002880.4(RAF1):c.1178A>C (p.Glu393Ala) rs886042569
NM_002880.4(RAF1):c.1271G>A (p.Cys424Tyr)
NM_002880.4(RAF1):c.1301A>G (p.His434Arg)
NM_002880.4(RAF1):c.1324A>G (p.Met442Val)
NM_002880.4(RAF1):c.1342A>G (p.Ile448Val)
NM_002880.4(RAF1):c.1415A>G (p.Asn472Ser)
NM_002880.4(RAF1):c.142C>G (p.Leu48Val) rs752967378
NM_002880.4(RAF1):c.1442C>T (p.Thr481Ile)
NM_002880.4(RAF1):c.1483C>T (p.Arg495Cys)
NM_002880.4(RAF1):c.1496C>G (p.Ser499Cys)
NM_002880.4(RAF1):c.1564AAC[1] (p.Asn523del)
NM_002880.4(RAF1):c.1564_1566delinsGAT (p.Asn522Asp)
NM_002880.4(RAF1):c.1566C>G (p.Asn522Lys)
NM_002880.4(RAF1):c.1606A>G (p.Ile536Val)
NM_002880.4(RAF1):c.1613T>C (p.Leu538Ser) rs730881011
NM_002880.4(RAF1):c.1636C>A (p.Leu546Ile) rs1265418262
NM_002880.4(RAF1):c.1655A>G (p.Asn552Ser) rs775817988
NM_002880.4(RAF1):c.1656C>G (p.Asn552Lys)
NM_002880.4(RAF1):c.1657A>G (p.Asn553Asp)
NM_002880.4(RAF1):c.1661G>A (p.Arg554Gln)
NM_002880.4(RAF1):c.1668+5G>A
NM_002880.4(RAF1):c.1690G>A (p.Gly564Arg) rs1553609909
NM_002880.4(RAF1):c.1696G>A (p.Ala566Thr) rs750077934
NM_002880.4(RAF1):c.169A>G (p.Thr57Ala)
NM_002880.4(RAF1):c.16G>A (p.Gly6Arg) rs1575600689
NM_002880.4(RAF1):c.1748G>C (p.Arg583Thr)
NM_002880.4(RAF1):c.1802A>G (p.Gln601Arg) rs1398402832
NM_002880.4(RAF1):c.1811C>G (p.Ser604Cys)
NM_002880.4(RAF1):c.1850A>T (p.Asn617Ile)
NM_002880.4(RAF1):c.1853G>A (p.Arg618Gln)
NM_002880.4(RAF1):c.1864G>A (p.Glu622Lys)
NM_002880.4(RAF1):c.1880G>C (p.Arg627Pro)
NM_002880.4(RAF1):c.188C>T (p.Pro63Leu)
NM_002880.4(RAF1):c.1896G>C (p.Glu632Asp)
NM_002880.4(RAF1):c.1907C>T (p.Ala636Val)
NM_002880.4(RAF1):c.1912A>T (p.Thr638Ser)
NM_002880.4(RAF1):c.218G>A (p.Arg73Gln) rs140884322
NM_002880.4(RAF1):c.305_307del (p.Leu102del)
NM_002880.4(RAF1):c.309C>G (p.His103Gln) rs1057520880
NM_002880.4(RAF1):c.310G>C (p.Glu104Gln)
NM_002880.4(RAF1):c.332G>A (p.Arg111His) rs996417348
NM_002880.4(RAF1):c.356C>T (p.Ala119Val) rs1398525119
NM_002880.4(RAF1):c.377T>C (p.Leu126Pro)
NM_002880.4(RAF1):c.37A>G (p.Asn13Asp)
NM_002880.4(RAF1):c.38A>G (p.Asn13Ser)
NM_002880.4(RAF1):c.400G>T (p.Val134Phe)
NM_002880.4(RAF1):c.412A>G (p.Thr138Ala)
NM_002880.4(RAF1):c.418A>G (p.Asn140Asp)
NM_002880.4(RAF1):c.419A>G (p.Asn140Ser) rs876657968
NM_002880.4(RAF1):c.440T>C (p.Leu147Pro)
NM_002880.4(RAF1):c.444G>C (p.Lys148Asn) rs1553614733
NM_002880.4(RAF1):c.448G>A (p.Ala150Thr)
NM_002880.4(RAF1):c.577C>T (p.Leu193Phe)
NM_002880.4(RAF1):c.580T>A (p.Leu194Ile)
NM_002880.4(RAF1):c.602T>C (p.Ile201Thr) rs369852728
NM_002880.4(RAF1):c.629C>T (p.Pro210Leu)
NM_002880.4(RAF1):c.641T>C (p.Met214Thr)
NM_002880.4(RAF1):c.644G>A (p.Arg215His)
NM_002880.4(RAF1):c.647G>A (p.Arg216His) rs761703202
NM_002880.4(RAF1):c.65T>G (p.Phe22Cys) rs2125453485
NM_002880.4(RAF1):c.672G>T (p.Met224Ile) rs1553614191
NM_002880.4(RAF1):c.68A>G (p.Asp23Gly)
NM_002880.4(RAF1):c.695A>G (p.Tyr232Cys)
NM_002880.4(RAF1):c.716C>T (p.Thr239Ile)
NM_002880.4(RAF1):c.739T>C (p.Ser247Pro)
NM_002880.4(RAF1):c.752T>A (p.Leu251His) rs1553613787
NM_002880.4(RAF1):c.784A>C (p.Asn262His) rs1575573204
NM_002880.4(RAF1):c.784A>T (p.Asn262Tyr) rs1575573204
NM_002880.4(RAF1):c.834+4A>C rs2058950056
NM_002880.4(RAF1):c.848G>C (p.Ser283Thr)
NM_002880.4(RAF1):c.868_870delinsACC (p.Pro290Thr) rs2125380943
NM_002880.4(RAF1):c.887G>T (p.Ser296Ile) rs762326811
NM_002880.4(RAF1):c.91A>G (p.Thr31Ala) rs1486365900
NM_002880.4(RAF1):c.930_941del (p.Pro311_Ala314del)
NM_002880.4(RAF1):c.934G>T (p.Val312Leu)
NM_002880.4(RAF1):c.97G>A (p.Val33Ile) rs1575600440
NM_002880.4(RAF1):c.988A>G (p.Ile330Val)
NM_002890.3(RASA1):c.103C>T (p.Arg35Trp)
NM_002890.3(RASA1):c.1088A>G (p.Asn363Ser)
NM_002890.3(RASA1):c.1228A>G (p.Met410Val)
NM_002890.3(RASA1):c.1235G>A (p.Gly412Glu)
NM_002890.3(RASA1):c.1241G>A (p.Arg414Gln)
NM_002890.3(RASA1):c.1279C>G (p.Arg427Gly)
NM_002890.3(RASA1):c.1358C>T (p.Thr453Ile)
NM_002890.3(RASA1):c.1363G>C (p.Asp455His)
NM_002890.3(RASA1):c.1438T>C (p.Tyr480His)
NM_002890.3(RASA1):c.1477T>G (p.Leu493Val)
NM_002890.3(RASA1):c.1593T>A (p.His531Gln)
NM_002890.3(RASA1):c.1613C>G (p.Pro538Arg)
NM_002890.3(RASA1):c.1654C>T (p.His552Tyr)
NM_002890.3(RASA1):c.1685C>A (p.Pro562Gln)
NM_002890.3(RASA1):c.1762A>C (p.Lys588Gln) rs2112480128
NM_002890.3(RASA1):c.1774C>A (p.Gln592Lys) rs1173108838
NM_002890.3(RASA1):c.1859T>C (p.Leu620Pro) rs1554049169
NM_002890.3(RASA1):c.193G>C (p.Ala65Pro)
NM_002890.3(RASA1):c.19G>A (p.Gly7Ser)
NM_002890.3(RASA1):c.2006A>G (p.Asp669Gly)
NM_002890.3(RASA1):c.2036G>A (p.Arg679Gln)
NM_002890.3(RASA1):c.2089C>A (p.Pro697Thr) rs759711265
NM_002890.3(RASA1):c.2106A>C (p.Glu702Asp)
NM_002890.3(RASA1):c.2170A>G (p.Ser724Gly)
NM_002890.3(RASA1):c.226T>G (p.Ser76Ala)
NM_002890.3(RASA1):c.226_227delinsAT (p.Ser76Ile)
NM_002890.3(RASA1):c.2281C>T (p.Leu761Phe)
NM_002890.3(RASA1):c.22A>C (p.Ser8Arg)
NM_002890.3(RASA1):c.2323G>A (p.Asp775Asn)
NM_002890.3(RASA1):c.23G>T (p.Ser8Ile)
NM_002890.3(RASA1):c.2410G>A (p.Ala804Thr) rs2112495606
NM_002890.3(RASA1):c.241C>G (p.Leu81Val) rs773960170
NM_002890.3(RASA1):c.2449T>C (p.Ser817Pro) rs1252322867
NM_002890.3(RASA1):c.244G>C (p.Gly82Arg)
NM_002890.3(RASA1):c.2452A>G (p.Ile818Val)
NM_002890.3(RASA1):c.2467G>C (p.Glu823Gln)
NM_002890.3(RASA1):c.250G>C (p.Ala84Pro)
NM_002890.3(RASA1):c.2532T>A (p.Asn844Lys)
NM_002890.3(RASA1):c.253G>A (p.Gly85Arg) rs754858818
NM_002890.3(RASA1):c.262G>A (p.Gly88Arg) rs369735817
NM_002890.3(RASA1):c.262G>T (p.Gly88Trp)
NM_002890.3(RASA1):c.2693G>T (p.Gly898Val)
NM_002890.3(RASA1):c.2741T>A (p.Met914Lys)
NM_002890.3(RASA1):c.2764C>T (p.Pro922Ser)
NM_002890.3(RASA1):c.27G>T (p.Glu9Asp) rs1205377315
NM_002890.3(RASA1):c.2941C>G (p.Pro981Ala)
NM_002890.3(RASA1):c.2978G>A (p.Arg993His)
NM_002890.3(RASA1):c.340A>G (p.Met114Val)
NM_002890.3(RASA1):c.344C>T (p.Ala115Val)
NM_002890.3(RASA1):c.352A>G (p.Lys118Glu) rs1580179229
NM_002890.3(RASA1):c.407C>T (p.Pro136Leu) rs769463654
NM_002890.3(RASA1):c.431C>T (p.Pro144Leu) rs1753694671
NM_002890.3(RASA1):c.434C>A (p.Pro145His)
NM_002890.3(RASA1):c.446G>A (p.Gly149Asp)
NM_002890.3(RASA1):c.451G>C (p.Gly151Arg)
NM_002890.3(RASA1):c.484C>G (p.Pro162Ala)
NM_002890.3(RASA1):c.503A>T (p.Glu168Val)
NM_002890.3(RASA1):c.532A>T (p.Thr178Ser) rs150804394
NM_002890.3(RASA1):c.67G>A (p.Ala23Thr)
NM_002890.3(RASA1):c.800A>C (p.Lys267Thr)
NM_002890.3(RASA1):c.903C>G (p.Phe301Leu)
NM_002890.3(RASA1):c.954G>A (p.Met318Ile)
NM_003098.3(SNTA1):c.-3_6del (p.Met1_Ala2del) rs1555822209
NM_003098.3(SNTA1):c.1015del (p.Arg339fs)
NM_003098.3(SNTA1):c.1018A>G (p.Thr340Ala)
NM_003098.3(SNTA1):c.1061C>A (p.Ser354Tyr) rs1200381592
NM_003098.3(SNTA1):c.1081G>A (p.Asp361Asn)
NM_003098.3(SNTA1):c.1099G>C (p.Ala367Pro)
NM_003098.3(SNTA1):c.1114A>T (p.Thr372Ser)
NM_003098.3(SNTA1):c.1133C>T (p.Thr378Ile)
NM_003098.3(SNTA1):c.114C>A (p.Asp38Glu) rs780018849
NM_003098.3(SNTA1):c.115G>A (p.Val39Met) rs755986911
NM_003098.3(SNTA1):c.1213G>T (p.Glu405Ter)
NM_003098.3(SNTA1):c.1238-1G>T
NM_003098.3(SNTA1):c.1244C>T (p.Thr415Met) rs533902889
NM_003098.3(SNTA1):c.1258C>T (p.Pro420Ser)
NM_003098.3(SNTA1):c.1287G>C (p.Lys429Asn) rs955414123
NM_003098.3(SNTA1):c.133G>A (p.Ala45Thr)
NM_003098.3(SNTA1):c.1361A>G (p.Gln454Arg)
NM_003098.3(SNTA1):c.1419C>T (p.Gly473=)
NM_003098.3(SNTA1):c.1426-1G>A
NM_003098.3(SNTA1):c.1450A>G (p.Lys484Glu)
NM_003098.3(SNTA1):c.1471C>T (p.His491Tyr)
NM_003098.3(SNTA1):c.1499G>A (p.Arg500His)
NM_003098.3(SNTA1):c.149G>A (p.Gly50Asp)
NM_003098.3(SNTA1):c.157C>G (p.Pro53Ala)
NM_003098.3(SNTA1):c.178G>A (p.Glu60Lys)
NM_003098.3(SNTA1):c.190C>G (p.Leu64Val)
NM_003098.3(SNTA1):c.242T>C (p.Leu81Pro) rs2146814680
NM_003098.3(SNTA1):c.277G>A (p.Ala93Thr) rs886056627
NM_003098.3(SNTA1):c.280G>C (p.Asp94His) rs786205844
NM_003098.3(SNTA1):c.286G>A (p.Gly96Ser)
NM_003098.3(SNTA1):c.304dup (p.Ile102fs)
NM_003098.3(SNTA1):c.338T>G (p.Leu113Arg)
NM_003098.3(SNTA1):c.340A>T (p.Ile114Phe)
NM_003098.3(SNTA1):c.346A>G (p.Lys116Glu)
NM_003098.3(SNTA1):c.377C>T (p.Thr126Ile)
NM_003098.3(SNTA1):c.386T>C (p.Leu129Pro)
NM_003098.3(SNTA1):c.454G>A (p.Val152Met)
NM_003098.3(SNTA1):c.476G>A (p.Gly159Asp)
NM_003098.3(SNTA1):c.500A>G (p.Lys167Arg)
NM_003098.3(SNTA1):c.521C>T (p.Pro174Leu)
NM_003098.3(SNTA1):c.590G>T (p.Arg197Leu)
NM_003098.3(SNTA1):c.602C>T (p.Ser201Phe)
NM_003098.3(SNTA1):c.614C>T (p.Thr205Ile)
NM_003098.3(SNTA1):c.702G>T (p.Arg234Ser)
NM_003098.3(SNTA1):c.751G>A (p.Ala251Thr)
NM_003098.3(SNTA1):c.761A>G (p.Glu254Gly)
NM_003098.3(SNTA1):c.770C>T (p.Ala257Val) rs56157422
NM_003098.3(SNTA1):c.77A>G (p.Glu26Gly)
NM_003098.3(SNTA1):c.793C>T (p.Gln265Ter) rs373610918
NM_003098.3(SNTA1):c.860G>A (p.Ser287Asn) rs780098159
NM_003098.3(SNTA1):c.869G>A (p.Gly290Glu)
NM_003098.3(SNTA1):c.896_899del (p.Gly298_Trp299insTer)
NM_003098.3(SNTA1):c.920G>C (p.Gly307Ala)
NM_003098.3(SNTA1):c.938T>C (p.Leu313Pro)
NM_003098.3(SNTA1):c.94C>A (p.Leu32Met)
NM_003098.3(SNTA1):c.985G>A (p.Glu329Lys)
NM_003242.6(TGFBR2):c.1334C>A (p.Thr445Asn) rs886038936
NM_003242.6(TGFBR2):c.1565A>T (p.Asp522Val) rs886038768
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg) rs863223857
NM_003280.3(TNNC1):c.116A>G (p.Lys39Arg)
NM_003280.3(TNNC1):c.154C>T (p.Pro52Ser)
NM_003280.3(TNNC1):c.155C>G (p.Pro52Arg) rs730881065
NM_003280.3(TNNC1):c.158C>A (p.Thr53Asn)
NM_003280.3(TNNC1):c.17A>G (p.Lys6Arg) rs2153230085
NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn) rs1040079072
NM_003280.3(TNNC1):c.212C>T (p.Thr71Met) rs1706331809
NM_003280.3(TNNC1):c.225T>G (p.Asp75Glu)
NM_003280.3(TNNC1):c.230del (p.Phe77fs)
NM_003280.3(TNNC1):c.241A>T (p.Met81Leu)
NM_003280.3(TNNC1):c.25G>A (p.Val9Ile) rs1578264552
NM_003280.3(TNNC1):c.341T>G (p.Leu114Arg) rs2153229918
NM_003280.3(TNNC1):c.400G>A (p.Glu134Lys) rs1553651640
NM_003280.3(TNNC1):c.412A>G (p.Lys138Glu)
NM_003280.3(TNNC1):c.416A>G (p.Asp139Gly)
NM_003280.3(TNNC1):c.424_425del (p.Lys142fs)
NM_003280.3(TNNC1):c.440G>A (p.Arg147His) rs769919235
NM_003280.3(TNNC1):c.456G>C (p.Glu152Asp) rs568828576
NM_003280.3(TNNC1):c.53A>C (p.Asn18Thr)
NM_003280.3(TNNC1):c.5A>G (p.Asp2Gly) rs397516850
NM_003280.3(TNNC1):c.65C>T (p.Ala22Val)
NM_003280.3(TNNC1):c.94G>A (p.Glu32Lys) rs1553651750
NM_003319.4(TTN):c.19326_19406del (p.Lys6442_His6469delinsAsn) rs1553713878
NM_003319.4:c.46274_57364del
NM_003476.5(CSRP3):c.10_11del (p.Trp4fs) rs1554968150
NM_003476.5(CSRP3):c.116C>A (p.Ala39Asp) rs748417030
NM_003476.5(CSRP3):c.136A>T (p.Ser46Cys)
NM_003476.5(CSRP3):c.149C>T (p.Ala50Val) rs139805841
NM_003476.5(CSRP3):c.161C>T (p.Ser54Leu)
NM_003476.5(CSRP3):c.163G>A (p.Glu55Lys)
NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly) rs104894204
NM_003476.5(CSRP3):c.190C>A (p.Arg64Ser)
NM_003476.5(CSRP3):c.200G>A (p.Gly67Asp)
NM_003476.5(CSRP3):c.208G>T (p.Gly70Trp) rs777211110
NM_003476.5(CSRP3):c.209G>T (p.Gly70Val)
NM_003476.5(CSRP3):c.229G>T (p.Ala77Ser) rs746207
NM_003476.5(CSRP3):c.233G>T (p.Gly78Val) rs963128995
NM_003476.5(CSRP3):c.236G>C (p.Cys79Ser)
NM_003476.5(CSRP3):c.251C>G (p.Thr84Arg)
NM_003476.5(CSRP3):c.259C>T (p.His87Tyr)
NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser) rs367827746
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs) rs960577385
NM_003476.5(CSRP3):c.311C>A (p.Thr104Asn)
NM_003476.5(CSRP3):c.329del (p.Phe110fs) rs2133508524
NM_003476.5(CSRP3):c.334G>C (p.Ala112Pro) rs727504905
NM_003476.5(CSRP3):c.335C>A (p.Ala112Glu)
NM_003476.5(CSRP3):c.377C>A (p.Ser126Ter)
NM_003476.5(CSRP3):c.37T>C (p.Cys13Arg) rs1257113692
NM_003476.5(CSRP3):c.3G>A (p.Met1Ile)
NM_003476.5(CSRP3):c.403G>A (p.Gly135Arg) rs1850522271
NM_003476.5(CSRP3):c.415-2A>C rs1850502742
NM_003476.5(CSRP3):c.424A>G (p.Lys142Glu) rs2133506962
NM_003476.5(CSRP3):c.439T>C (p.Cys147Arg) rs2133506925
NM_003476.5(CSRP3):c.455A>G (p.Lys152Arg)
NM_003476.5(CSRP3):c.457_458del (p.Leu154fs) rs748393033
NM_003476.5(CSRP3):c.458G>T (p.Ser153Ile)
NM_003476.5(CSRP3):c.496C>G (p.Leu166Val)
NM_003476.5(CSRP3):c.4C>T (p.Pro2Ser)
NM_003476.5(CSRP3):c.511T>C (p.Cys171Arg)
NM_003476.5(CSRP3):c.532C>G (p.Pro178Ala) rs749002955
NM_003476.5(CSRP3):c.539G>T (p.Gly180Val) rs727504899
NM_003476.5(CSRP3):c.541A>G (p.Ile181Val)
NM_003476.5(CSRP3):c.572A>T (p.Glu191Val)
NM_003476.5(CSRP3):c.575del (p.Lys192fs) rs1554967246
NM_003476.5(CSRP3):c.580G>C (p.Glu194Gln)
NM_003476.5(CSRP3):c.583T>A (p.Ter195Arg) rs774359383
NM_003476.5(CSRP3):c.64G>T (p.Glu22Ter)
NM_003476.5(CSRP3):c.72G>C (p.Gln24His)
NM_003476.5(CSRP3):c.88T>C (p.Phe30Leu) rs2133516315
NM_003480.4(MFAP5):c.-2-1G>A
NM_003480.4(MFAP5):c.112A>T (p.Thr38Ser)
NM_003480.4(MFAP5):c.137C>T (p.Pro46Leu)
NM_003480.4(MFAP5):c.140-3C>A
NM_003480.4(MFAP5):c.143T>C (p.Leu48Pro)
NM_003480.4(MFAP5):c.14G>A (p.Gly5Glu)
NM_003480.4(MFAP5):c.172+1del rs1464656353
NM_003480.4(MFAP5):c.19A>G (p.Lys7Glu)
NM_003480.4(MFAP5):c.250T>G (p.Cys84Gly)
NM_003480.4(MFAP5):c.259G>A (p.Glu87Lys)
NM_003480.4(MFAP5):c.261G>C (p.Glu87Asp)
NM_003480.4(MFAP5):c.271T>C (p.Cys91Arg)
NM_003480.4(MFAP5):c.279G>T (p.Arg93Ser)
NM_003480.4(MFAP5):c.295C>T (p.Arg99Trp)
NM_003480.4(MFAP5):c.30G>C (p.Leu10=)
NM_003480.4(MFAP5):c.336-3C>T
NM_003480.4(MFAP5):c.352A>G (p.Ile118Val)
NM_003480.4(MFAP5):c.353T>C (p.Ile118Thr)
NM_003480.4(MFAP5):c.362A>C (p.Lys121Thr)
NM_003480.4(MFAP5):c.386G>A (p.Cys129Tyr)
NM_003480.4(MFAP5):c.393A>T (p.Glu131Asp)
NM_003480.4(MFAP5):c.395A>G (p.His132Arg)
NM_003480.4(MFAP5):c.415C>T (p.Leu139Phe)
NM_003480.4(MFAP5):c.421C>T (p.Arg141Cys)
NM_003480.4(MFAP5):c.422G>A (p.Arg141His)
NM_003480.4(MFAP5):c.422G>T (p.Arg141Leu)
NM_003480.4(MFAP5):c.430G>T (p.Ala144Ser)
NM_003480.4(MFAP5):c.446G>T (p.Arg149Met)
NM_003480.4(MFAP5):c.451C>T (p.Leu151Phe)
NM_003480.4(MFAP5):c.454C>A (p.Arg152Ser)
NM_003480.4(MFAP5):c.458G>A (p.Arg153His)
NM_003480.4(MFAP5):c.7C>T (p.Leu3Phe)
NM_003673.4(TCAP):c.107A>G (p.Glu36Gly)
NM_003673.4(TCAP):c.126GGA[1] (p.Glu43del) rs1221886757
NM_003673.4(TCAP):c.172C>G (p.Gln58Glu)
NM_003673.4(TCAP):c.188G>A (p.Arg63His)
NM_003673.4(TCAP):c.19A>G (p.Ser7Gly)
NM_003673.4(TCAP):c.223G>T (p.Gly75Cys)
NM_003673.4(TCAP):c.263T>A (p.Val88Glu)
NM_003673.4(TCAP):c.271C>A (p.Leu91Met)
NM_003673.4(TCAP):c.305C>T (p.Thr102Ile)
NM_003673.4(TCAP):c.310GAG[1] (p.Glu105del) rs748506107
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267
NM_003673.4(TCAP):c.317G>T (p.Arg106Leu) rs576098128
NM_003673.4(TCAP):c.330del (p.Ile111fs) rs2057251924
NM_003673.4(TCAP):c.34_48dup (p.Glu16_Arg17insGluGluAsnCysGlu)
NM_003673.4(TCAP):c.382G>C (p.Val128Leu)
NM_003673.4(TCAP):c.445C>G (p.Pro149Ala) rs932397209
NM_003673.4(TCAP):c.452_453delinsTC (p.Ala151Val) rs2057253289
NM_003673.4(TCAP):c.466_477del (p.Leu156_Ser159del)
NM_003673.4(TCAP):c.469T>A (p.Ser157Thr)
NM_003673.4(TCAP):c.472C>T (p.Arg158Cys) rs397516863
NM_003673.4(TCAP):c.493_494del (p.Gln165fs)
NM_003673.4(TCAP):c.50G>C (p.Arg17Pro) rs750796201
NM_003673.4(TCAP):c.50_51delinsCT (p.Arg17Pro) rs1555606961
NM_003673.4(TCAP):c.94A>T (p.Thr32Ser)
NM_003803.4(MYOM1):c.251G>C (p.Arg84Pro) rs756788476
NM_004006.3(DMD):c.10033C>G (p.Arg3345Gly) rs398123827
NM_004006.3(DMD):c.10068G>A (p.Met3356Ile)
NM_004006.3(DMD):c.10088C>G (p.Thr3363Ser)
NM_004006.3(DMD):c.10224-3C>T
NM_004006.3(DMD):c.10261G>T (p.Ala3421Ser)
NM_004006.3(DMD):c.10307G>A (p.Arg3436His)
NM_004006.3(DMD):c.10450C>T (p.Pro3484Ser)
NM_004006.3(DMD):c.10624C>G (p.Pro3542Ala)
NM_004006.3(DMD):c.10652A>G (p.Gln3551Arg)
NM_004006.3(DMD):c.10830G>A (p.Thr3610=) rs113604000
NM_004006.3(DMD):c.10831G>T (p.Val3611Leu)
NM_004006.3(DMD):c.10843_10845del (p.Ser3615del) rs751391426
NM_004006.3(DMD):c.10929A>C (p.Glu3643Asp)
NM_004006.3(DMD):c.10932TCT[1] (p.Leu3646del) rs2147775174
NM_004006.3(DMD):c.10978A>G (p.Met3660Val)
NM_004006.3(DMD):c.1114G>A (p.Val372Met)
NM_004006.3(DMD):c.1132C>G (p.Gln378Glu) rs1556876203
NM_004006.3(DMD):c.1179G>C (p.Gln393His)
NM_004006.3(DMD):c.1275T>A (p.Asn425Lys)
NM_004006.3(DMD):c.1310C>A (p.Ala437Asp) rs1556875180
NM_004006.3(DMD):c.1412C>A (p.Thr471Lys)
NM_004006.3(DMD):c.1447C>T (p.Leu483Phe)
NM_004006.3(DMD):c.1481A>G (p.Lys494Arg) rs1556853018
NM_004006.3(DMD):c.1519G>A (p.Val507Ile)
NM_004006.3(DMD):c.1537A>G (p.Met513Val) rs368326458
NM_004006.3(DMD):c.1603-4C>G rs377223643
NM_004006.3(DMD):c.1648C>A (p.Arg550Ser)
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser) rs145739725
NM_004006.3(DMD):c.1693A>T (p.Thr565Ser) rs766450050
NM_004006.3(DMD):c.1760C>T (p.Thr587Ile) rs2052673481
NM_004006.3(DMD):c.1813-3C>T rs181399181
NM_004006.3(DMD):c.1847C>A (p.Ser616Tyr)
NM_004006.3(DMD):c.1879CTT[1] (p.Leu628del) rs767034345
NM_004006.3(DMD):c.1880T>A (p.Leu627His)
NM_004006.3(DMD):c.1889C>A (p.Thr630Lys) rs1057523223
NM_004006.3(DMD):c.2060C>G (p.Thr687Arg)
NM_004006.3(DMD):c.2084T>G (p.Leu695Arg) rs1556780761
NM_004006.3(DMD):c.2119C>T (p.Pro707Ser)
NM_004006.3(DMD):c.2222T>C (p.Val741Ala) rs886039135
NM_004006.3(DMD):c.2273A>G (p.Asp758Gly) rs750526692
NM_004006.3(DMD):c.2301G>T (p.Glu767Asp) rs2044086255
NM_004006.3(DMD):c.235A>G (p.Lys79Glu)
NM_004006.3(DMD):c.2400C>A (p.Ser800Arg) rs142115986
NM_004006.3(DMD):c.2407C>A (p.Gln803Lys)
NM_004006.3(DMD):c.2494A>G (p.Ile832Val)
NM_004006.3(DMD):c.2573C>T (p.Thr858Ile)
NM_004006.3(DMD):c.2600A>G (p.Lys867Arg)
NM_004006.3(DMD):c.2622+3A>G
NM_004006.3(DMD):c.2642C>T (p.Ser881Leu)
NM_004006.3(DMD):c.2662G>A (p.Glu888Lys)
NM_004006.3(DMD):c.2717T>C (p.Phe906Ser)
NM_004006.3(DMD):c.2717T>G (p.Phe906Cys) rs375557173
NM_004006.3(DMD):c.2734G>A (p.Val912Met) rs201549805
NM_004006.3(DMD):c.27C>G (p.Asp9Glu)
NM_004006.3(DMD):c.2818C>T (p.Pro940Ser)
NM_004006.3(DMD):c.2819C>T (p.Pro940Leu)
NM_004006.3(DMD):c.2827C>A (p.Arg943Ser) rs199986217
NM_004006.3(DMD):c.2876A>G (p.Glu959Gly)
NM_004006.3(DMD):c.2899C>T (p.Leu967Phe) rs2040718654
NM_004006.3(DMD):c.2911G>A (p.Asp971Asn) rs1376043336
NM_004006.3(DMD):c.2920A>G (p.Ile974Val)
NM_004006.3(DMD):c.2925G>A (p.Met975Ile)
NM_004006.3(DMD):c.2926G>A (p.Glu976Lys)
NM_004006.3(DMD):c.2935C>A (p.Leu979Ile)
NM_004006.3(DMD):c.2942A>G (p.Glu981Gly) rs1557374492
NM_004006.3(DMD):c.3015G>T (p.Glu1005Asp)
NM_004006.3(DMD):c.3018G>A (p.Met1006Ile)
NM_004006.3(DMD):c.3028G>T (p.Ala1010Ser)
NM_004006.3(DMD):c.3074T>C (p.Ile1025Thr) rs376163041
NM_004006.3(DMD):c.31+2dup rs2051897744
NM_004006.3(DMD):c.310C>T (p.His104Tyr)
NM_004006.3(DMD):c.3126G>C (p.Lys1042Asn) rs2040289618
NM_004006.3(DMD):c.3162G>C (p.Gln1054His) rs1414538851
NM_004006.3(DMD):c.3220G>A (p.Glu1074Lys)
NM_004006.3(DMD):c.3271T>G (p.Cys1091Gly) rs1569563736
NM_004006.3(DMD):c.3276+3A>T
NM_004006.3(DMD):c.3318C>G (p.Asn1106Lys)
NM_004006.3(DMD):c.3326A>G (p.Asn1109Ser) rs200596739
NM_004006.3(DMD):c.3331G>A (p.Gly1111Ser) rs2098390878
NM_004006.3(DMD):c.3415G>T (p.Asp1139Tyr)
NM_004006.3(DMD):c.3476C>A (p.Thr1159Asn)
NM_004006.3(DMD):c.3573T>G (p.Asp1191Glu)
NM_004006.3(DMD):c.3612A>T (p.Lys1204Asn)
NM_004006.3(DMD):c.3644A>G (p.Lys1215Arg)
NM_004006.3(DMD):c.365A>C (p.Asn122Thr) rs1603437369
NM_004006.3(DMD):c.365A>G (p.Asn122Ser)
NM_004006.3(DMD):c.3686C>T (p.Pro1229Leu)
NM_004006.3(DMD):c.3789A>T (p.Glu1263Asp)
NM_004006.3(DMD):c.3806A>C (p.His1269Pro) rs775892814
NM_004006.3(DMD):c.3806A>G (p.His1269Arg)
NM_004006.3(DMD):c.3816G>T (p.Leu1272Phe) rs760733415
NM_004006.3(DMD):c.3818C>T (p.Ser1273Leu)
NM_004006.3(DMD):c.3901G>A (p.Glu1301Lys)
NM_004006.3(DMD):c.3914T>C (p.Val1305Ala)
NM_004006.3(DMD):c.3919G>A (p.Asp1307Asn)
NM_004006.3(DMD):c.3922T>C (p.Ser1308Pro)
NM_004006.3(DMD):c.3963T>G (p.Asn1321Lys)
NM_004006.3(DMD):c.4019T>C (p.Ile1340Thr)
NM_004006.3(DMD):c.4052G>T (p.Trp1351Leu)
NM_004006.3(DMD):c.4079G>C (p.Arg1360Thr)
NM_004006.3(DMD):c.416T>C (p.Ile139Thr) rs2148807220
NM_004006.3(DMD):c.4172A>G (p.Lys1391Arg) rs1603632892
NM_004006.3(DMD):c.4187A>G (p.Tyr1396Cys)
NM_004006.3(DMD):c.4214A>T (p.Gln1405Leu) rs2098142833
NM_004006.3(DMD):c.4268G>C (p.Ser1423Thr)
NM_004006.3(DMD):c.4296G>C (p.Gln1432His) rs747262903
NM_004006.3(DMD):c.4296G>T (p.Gln1432His) rs747262903
NM_004006.3(DMD):c.4307C>A (p.Ala1436Asp) rs886042798
NM_004006.3(DMD):c.4325C>T (p.Ser1442Phe)
NM_004006.3(DMD):c.4331T>C (p.Ile1444Thr)
NM_004006.3(DMD):c.4345-4dup rs1557322418
NM_004006.3(DMD):c.4534C>G (p.Leu1512Val)
NM_004006.3(DMD):c.4550C>T (p.Ser1517Phe)
NM_004006.3(DMD):c.4598A>G (p.Lys1533Arg)
NM_004006.3(DMD):c.4633G>A (p.Val1545Ile)
NM_004006.3(DMD):c.4639G>T (p.Ala1547Ser)
NM_004006.3(DMD):c.472A>C (p.Asn158His) rs2148806453
NM_004006.3(DMD):c.4774A>T (p.Met1592Leu)
NM_004006.3(DMD):c.4831G>A (p.Val1611Ile)
NM_004006.3(DMD):c.4859A>G (p.Glu1620Gly)
NM_004006.3(DMD):c.4870C>G (p.Gln1624Glu)
NM_004006.3(DMD):c.4899G>T (p.Glu1633Asp) rs886044407
NM_004006.3(DMD):c.4927G>T (p.Gly1643Cys)
NM_004006.3(DMD):c.4942T>G (p.Leu1648Val) rs138472027
NM_004006.3(DMD):c.4990A>C (p.Thr1664Pro)
NM_004006.3(DMD):c.5025+2T>C
NM_004006.3(DMD):c.5043G>A (p.Met1681Ile) rs1045187121
NM_004006.3(DMD):c.5047A>C (p.Thr1683Pro) rs1057515873
NM_004006.3(DMD):c.5058G>C (p.Gln1686His)
NM_004006.3(DMD):c.5085C>G (p.Ile1695Met)
NM_004006.3(DMD):c.5123A>C (p.Lys1708Thr)
NM_004006.3(DMD):c.5149C>A (p.Leu1717Ile) rs769383291
NM_004006.3(DMD):c.5194G>T (p.Asp1732Tyr)
NM_004006.3(DMD):c.5324_5325delinsGT (p.Lys1775Ser) rs1557303381
NM_004006.3(DMD):c.5419C>A (p.Leu1807Met)
NM_004006.3(DMD):c.5504A>C (p.Gln1835Pro)
NM_004006.3(DMD):c.5600A>T (p.Gln1867Leu)
NM_004006.3(DMD):c.562T>G (p.Cys188Gly) rs1557047949
NM_004006.3(DMD):c.5655G>C (p.Gln1885His)
NM_004006.3(DMD):c.5659G>A (p.Asp1887Asn)
NM_004006.3(DMD):c.5729G>A (p.Arg1910Lys)
NM_004006.3(DMD):c.5750G>C (p.Arg1917Pro) rs760528813
NM_004006.3(DMD):c.5785G>A (p.Val1929Met)
NM_004006.3(DMD):c.5804G>A (p.Gly1935Asp)
NM_004006.3(DMD):c.5852A>C (p.Gln1951Pro)
NM_004006.3(DMD):c.5870G>A (p.Arg1957Gln)
NM_004006.3(DMD):c.5909A>G (p.Asn1970Ser) rs951731570
NM_004006.3(DMD):c.5910C>G (p.Asn1970Lys)
NM_004006.3(DMD):c.5913T>G (p.Phe1971Leu)
NM_004006.3(DMD):c.5932C>T (p.Arg1978Cys) rs2097557042
NM_004006.3(DMD):c.5977A>G (p.Ile1993Val)
NM_004006.3(DMD):c.6013A>C (p.Thr2005Pro)
NM_004006.3(DMD):c.6067C>T (p.Leu2023Phe) rs869312948
NM_004006.3(DMD):c.6084T>G (p.Phe2028Leu)
NM_004006.3(DMD):c.612A>G (p.Arg204=) rs2077190196
NM_004006.3(DMD):c.6143G>T (p.Ser2048Ile)
NM_004006.3(DMD):c.614A>G (p.Tyr205Cys)
NM_004006.3(DMD):c.6179C>T (p.Thr2060Ile) rs794729000
NM_004006.3(DMD):c.617A>C (p.Gln206Pro)
NM_004006.3(DMD):c.6196G>T (p.Ala2066Ser) rs1468473458
NM_004006.3(DMD):c.6197C>T (p.Ala2066Val)
NM_004006.3(DMD):c.6232C>T (p.Leu2078Phe) rs748419295
NM_004006.3(DMD):c.6241C>T (p.Leu2081Phe)
NM_004006.3(DMD):c.6271A>G (p.Met2091Val)
NM_004006.3(DMD):c.6305C>T (p.Ser2102Phe)
NM_004006.3(DMD):c.631A>C (p.Lys211Gln)
NM_004006.3(DMD):c.6332A>G (p.Tyr2111Cys)
NM_004006.3(DMD):c.6345A>G (p.Ile2115Met)
NM_004006.3(DMD):c.6376T>A (p.Phe2126Ile)
NM_004006.3(DMD):c.6427T>C (p.Trp2143Arg)
NM_004006.3(DMD):c.650-5T>C
NM_004006.3(DMD):c.6665A>T (p.Glu2222Val)
NM_004006.3(DMD):c.6748C>T (p.Leu2250Phe)
NM_004006.3(DMD):c.6790C>G (p.Gln2264Glu)
NM_004006.3(DMD):c.6867T>A (p.Asp2289Glu)
NM_004006.3(DMD):c.6912+4A>G
NM_004006.3(DMD):c.6913-3C>A
NM_004006.3(DMD):c.6941G>A (p.Gly2314Glu)
NM_004006.3(DMD):c.6982A>G (p.Lys2328Glu)
NM_004006.3(DMD):c.7168T>C (p.Tyr2390His)
NM_004006.3(DMD):c.717G>C (p.Leu239Phe)
NM_004006.3(DMD):c.7200G>A (p.Lys2400=)
NM_004006.3(DMD):c.7201-4A>G rs1556917126
NM_004006.3(DMD):c.7237G>A (p.Val2413Ile) rs373604575
NM_004006.3(DMD):c.7450G>C (p.Asp2484His) rs773102625
NM_004006.3(DMD):c.7517_7519dup (p.Ile2506_Asn2507insIle)
NM_004006.3(DMD):c.7766A>C (p.Lys2589Thr) rs1603445313
NM_004006.3(DMD):c.7816T>G (p.Trp2606Gly)
NM_004006.3(DMD):c.7843G>A (p.Ala2615Thr)
NM_004006.3(DMD):c.7879G>T (p.Ala2627Ser)
NM_004006.3(DMD):c.7887C>G (p.Asp2629Glu)
NM_004006.3(DMD):c.7891C>T (p.Arg2631Cys)
NM_004006.3(DMD):c.7931C>T (p.Ala2644Val)
NM_004006.3(DMD):c.8033G>C (p.Ser2678Thr) rs942124280
NM_004006.3(DMD):c.805C>T (p.His269Tyr)
NM_004006.3(DMD):c.8060C>T (p.Thr2687Ile)
NM_004006.3(DMD):c.8150A>T (p.Asp2717Val) rs886043271
NM_004006.3(DMD):c.818A>G (p.His273Arg)
NM_004006.3(DMD):c.8237A>G (p.Glu2746Gly)
NM_004006.3(DMD):c.8249A>T (p.Asp2750Val)
NM_004006.3(DMD):c.8308G>C (p.Asp2770His)
NM_004006.3(DMD):c.832A>G (p.Ile278Val)
NM_004006.3(DMD):c.8350T>C (p.Phe2784Leu)
NM_004006.3(DMD):c.8435T>C (p.Leu2812Pro)
NM_004006.3(DMD):c.8470A>G (p.Lys2824Glu)
NM_004006.3(DMD):c.8489G>A (p.Arg2830Gln)
NM_004006.3(DMD):c.8506G>A (p.Gly2836Ser)
NM_004006.3(DMD):c.8560_8561delinsAC (p.Glu2854Thr) rs2149257504
NM_004006.3(DMD):c.856T>C (p.Tyr286His)
NM_004006.3(DMD):c.8651T>C (p.Leu2884Pro)
NM_004006.3(DMD):c.8656C>G (p.Gln2886Glu)
NM_004006.3(DMD):c.8662C>G (p.Pro2888Ala)
NM_004006.3(DMD):c.8775G>C (p.Trp2925Cys)
NM_004006.3(DMD):c.881C>T (p.Pro294Leu) rs2063777083
NM_004006.3(DMD):c.8824G>C (p.Ala2942Pro) rs755127162
NM_004006.3(DMD):c.884G>T (p.Arg295Leu)
NM_004006.3(DMD):c.8866A>C (p.Ile2956Leu) rs1032522152
NM_004006.3(DMD):c.8884C>A (p.Pro2962Thr)
NM_004006.3(DMD):c.8941C>A (p.Leu2981Ile) rs2149076096
NM_004006.3(DMD):c.8998C>T (p.Arg3000Cys)
NM_004006.3(DMD):c.9025C>A (p.Leu3009Ile) rs2149075446
NM_004006.3(DMD):c.9101G>A (p.Arg3034Gln)
NM_004006.3(DMD):c.9122C>A (p.Ala3041Asp)
NM_004006.3(DMD):c.926C>A (p.Thr309Asn)
NM_004006.3(DMD):c.9338G>A (p.Arg3113Gln) rs1556320083
NM_004006.3(DMD):c.9352G>A (p.Ala3118Thr) rs200928985
NM_004006.3(DMD):c.9352G>T (p.Ala3118Ser) rs200928985
NM_004006.3(DMD):c.9362-3C>T rs752816247
NM_004006.3(DMD):c.940C>G (p.Arg314Gly) rs764526102
NM_004006.3(DMD):c.941G>T (p.Arg314Leu) rs751164104
NM_004006.3(DMD):c.9497A>G (p.Asn3166Ser)
NM_004006.3(DMD):c.9499A>G (p.Asn3167Asp) rs781509861
NM_004006.3(DMD):c.9511G>A (p.Val3171Ile)
NM_004006.3(DMD):c.9515C>A (p.Pro3172His)
NM_004006.3(DMD):c.9553G>A (p.Val3185Ile) rs1556280685
NM_004006.3(DMD):c.976G>C (p.Glu326Gln)
NM_004006.3(DMD):c.9781C>G (p.Pro3261Ala)
NM_004006.3(DMD):c.9818A>C (p.Lys3273Thr)
NM_004006.3(DMD):c.990T>G (p.Phe330Leu)
NM_004100.5(EYA4):c.1001C>T (p.Thr334Ile)
NM_004100.5(EYA4):c.1010A>G (p.Lys337Arg) rs755172395
NM_004100.5(EYA4):c.1039T>A (p.Ser347Thr)
NM_004100.5(EYA4):c.103C>G (p.Leu35Val) rs35562371
NM_004100.5(EYA4):c.1042G>C (p.Gly348Arg) rs1279116848
NM_004100.5(EYA4):c.1087C>A (p.Pro363Thr) rs766386665
NM_004100.5(EYA4):c.1090C>T (p.Pro364Ser)
NM_004100.5(EYA4):c.1144G>C (p.Val382Leu)
NM_004100.5(EYA4):c.1191+5_1191+8delinsTG
NM_004100.5(EYA4):c.1196C>T (p.Pro399Leu)
NM_004100.5(EYA4):c.119C>T (p.Thr40Ile)
NM_004100.5(EYA4):c.1204G>T (p.Ala402Ser)
NM_004100.5(EYA4):c.1276T>A (p.Leu426Ile)
NM_004100.5(EYA4):c.1300A>G (p.Ile434Val)
NM_004100.5(EYA4):c.1301T>C (p.Ile434Thr) rs766340934
NM_004100.5(EYA4):c.131G>A (p.Gly44Asp) rs886039161
NM_004100.5(EYA4):c.1340G>T (p.Ser447Ile)
NM_004100.5(EYA4):c.137A>G (p.Asp46Gly) rs1439822731
NM_004100.5(EYA4):c.1405A>G (p.Thr469Ala)
NM_004100.5(EYA4):c.1411G>A (p.Val471Ile)
NM_004100.5(EYA4):c.1434G>A (p.Met478Ile) rs1187396214
NM_004100.5(EYA4):c.1471T>G (p.Leu491Val)
NM_004100.5(EYA4):c.1496T>G (p.Val499Gly)
NM_004100.5(EYA4):c.1523G>A (p.Arg508Lys) rs543789215
NM_004100.5(EYA4):c.152C>T (p.Ser51Phe) rs542906126
NM_004100.5(EYA4):c.1546G>A (p.Ala516Thr)
NM_004100.5(EYA4):c.1549G>A (p.Glu517Lys)
NM_004100.5(EYA4):c.155A>C (p.Lys52Thr) rs763983145
NM_004100.5(EYA4):c.161A>T (p.Glu54Val)
NM_004100.5(EYA4):c.1760G>A (p.Arg587Gln)
NM_004100.5(EYA4):c.1783A>C (p.Lys595Gln) rs1344051266
NM_004100.5(EYA4):c.1786G>A (p.Val596Ile)
NM_004100.5(EYA4):c.179G>T (p.Ser60Ile) rs886038799
NM_004100.5(EYA4):c.1816GAA[2] (p.Glu608del) rs763110500
NM_004100.5(EYA4):c.202A>G (p.Thr68Ala)
NM_004100.5(EYA4):c.238G>A (p.Asp80Asn)
NM_004100.5(EYA4):c.251G>A (p.Ser84Asn) rs1215782368
NM_004100.5(EYA4):c.304C>T (p.Pro102Ser)
NM_004100.5(EYA4):c.308T>C (p.Leu103Ser)
NM_004100.5(EYA4):c.33+5G>A
NM_004100.5(EYA4):c.365G>C (p.Gly122Ala)
NM_004100.5(EYA4):c.371-3C>T
NM_004100.5(EYA4):c.377C>G (p.Thr126Arg)
NM_004100.5(EYA4):c.37A>G (p.Lys13Glu)
NM_004100.5(EYA4):c.439C>T (p.Pro147Ser)
NM_004100.5(EYA4):c.43A>G (p.Thr15Ala) rs1359824142
NM_004100.5(EYA4):c.458C>G (p.Ser153Cys) rs1554261941
NM_004100.5(EYA4):c.494G>A (p.Gly165Asp) rs1794475262
NM_004100.5(EYA4):c.511G>C (p.Gly171Arg)
NM_004100.5(EYA4):c.590T>C (p.Val197Ala) rs1794499562
NM_004100.5(EYA4):c.625T>C (p.Ser209Pro)
NM_004100.5(EYA4):c.700A>G (p.Thr234Ala)
NM_004100.5(EYA4):c.712T>C (p.Tyr238His)
NM_004100.5(EYA4):c.722C>T (p.Pro241Leu)
NM_004100.5(EYA4):c.749C>G (p.Thr250Ser)
NM_004100.5(EYA4):c.757G>A (p.Ala253Thr)
NM_004100.5(EYA4):c.781A>G (p.Thr261Ala)
NM_004100.5(EYA4):c.782C>T (p.Thr261Met) rs959547878
NM_004100.5(EYA4):c.793G>A (p.Gly265Ser)
NM_004100.5(EYA4):c.803A>G (p.Gln268Arg)
NM_004100.5(EYA4):c.809A>G (p.Tyr270Cys) rs1048564742
NM_004100.5(EYA4):c.818A>G (p.Tyr273Cys)
NM_004100.5(EYA4):c.830G>A (p.Gly277Asp)
NM_004100.5(EYA4):c.84G>T (p.Arg28Ser)
NM_004100.5(EYA4):c.856T>G (p.Ser286Ala)
NM_004100.5(EYA4):c.874G>A (p.Ala292Thr) rs1195889018
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp) rs757252384
NM_004100.5(EYA4):c.923C>T (p.Ser308Phe)
NM_004100.5(EYA4):c.959C>T (p.Thr320Ile)
NM_004100.5(EYA4):c.961A>C (p.Asn321His) rs202049252
NM_004100.5(EYA4):c.978C>G (p.Phe326Leu) rs773095472
NM_004100.5(EYA4):c.98A>C (p.Gln33Pro)
NM_004100.5(EYA4):c.991A>C (p.Ser331Arg)
NM_004281.4(BAG3):c.1028G>A (p.Arg343His) rs774085746
NM_004281.4(BAG3):c.1055C>G (p.Ser352Cys) rs1564776574
NM_004281.4(BAG3):c.1063C>T (p.Pro355Ser) rs761188869
NM_004281.4(BAG3):c.1070C>T (p.Pro357Leu)
NM_004281.4(BAG3):c.1088A>C (p.Glu363Ala) rs1345725468
NM_004281.4(BAG3):c.1121C>G (p.Pro374Arg)
NM_004281.4(BAG3):c.1157C>T (p.Ser386Phe)
NM_004281.4(BAG3):c.116T>C (p.Phe39Ser) rs1472915271
NM_004281.4(BAG3):c.1179A>C (p.Glu393Asp)
NM_004281.4(BAG3):c.1198A>T (p.Thr400Ser)
NM_004281.4(BAG3):c.1232_1234del (p.Gly411del) rs761727804
NM_004281.4(BAG3):c.1243G>T (p.Ala415Ser) rs1248733449
NM_004281.4(BAG3):c.1255C>T (p.His419Tyr)
NM_004281.4(BAG3):c.1259C>A (p.Pro420Gln)
NM_004281.4(BAG3):c.1259C>T (p.Pro420Leu) rs1303615373
NM_004281.4(BAG3):c.1262G>A (p.Gly421Glu) rs886039025
NM_004281.4(BAG3):c.1293G>C (p.Lys431Asn)
NM_004281.4(BAG3):c.1296_1298delinsGCG (p.Gln433Arg)
NM_004281.4(BAG3):c.1307A>G (p.Glu436Gly) rs1847245034
NM_004281.4(BAG3):c.1318G>A (p.Asp440Asn) rs878854652
NM_004281.4(BAG3):c.1366G>A (p.Glu456Lys)
NM_004281.4(BAG3):c.1397A>T (p.Asp466Val)
NM_004281.4(BAG3):c.1402G>A (p.Val468Met)
NM_004281.4(BAG3):c.1425T>A (p.Asp475Glu)
NM_004281.4(BAG3):c.1450G>A (p.Val484Ile)
NM_004281.4(BAG3):c.14C>T (p.Thr5Ile)
NM_004281.4(BAG3):c.1543C>T (p.Leu515Phe)
NM_004281.4(BAG3):c.1546G>A (p.Glu516Lys)
NM_004281.4(BAG3):c.154C>G (p.Pro52Ala)
NM_004281.4(BAG3):c.1554T>A (p.Asp518Glu) rs139125612
NM_004281.4(BAG3):c.1559C>T (p.Pro520Leu)
NM_004281.4(BAG3):c.155C>G (p.Pro52Arg) rs1846845477
NM_004281.4(BAG3):c.1565A>T (p.Gln522Leu)
NM_004281.4(BAG3):c.1570A>T (p.Ile524Phe) rs764925485
NM_004281.4(BAG3):c.1574T>C (p.Met525Thr) rs2134069468
NM_004281.4(BAG3):c.1600A>G (p.Lys534Glu)
NM_004281.4(BAG3):c.1629A>T (p.Glu543Asp)
NM_004281.4(BAG3):c.1630G>A (p.Asp544Asn) rs786205466
NM_004281.4(BAG3):c.1687A>G (p.Ser563Gly)
NM_004281.4(BAG3):c.1709G>A (p.Gly570Asp)
NM_004281.4(BAG3):c.1718C>T (p.Ala573Val)
NM_004281.4(BAG3):c.180+5G>A
NM_004281.4(BAG3):c.19T>C (p.Ser7Pro)
NM_004281.4(BAG3):c.200A>G (p.Asn67Ser) rs572036022
NM_004281.4(BAG3):c.212G>T (p.Arg71Leu) rs35434411
NM_004281.4(BAG3):c.280A>G (p.Ile94Val)
NM_004281.4(BAG3):c.302A>G (p.Glu101Gly)
NM_004281.4(BAG3):c.321G>C (p.Gln107His)
NM_004281.4(BAG3):c.326A>G (p.His109Arg)
NM_004281.4(BAG3):c.329C>T (p.Pro110Leu) rs749587347
NM_004281.4(BAG3):c.388G>T (p.Ala130Ser)
NM_004281.4(BAG3):c.391C>G (p.Pro131Ala) rs140672627
NM_004281.4(BAG3):c.41C>T (p.Ser14Phe) rs2134050488
NM_004281.4(BAG3):c.440C>T (p.Pro147Leu)
NM_004281.4(BAG3):c.467C>G (p.Ala156Gly) rs572038196
NM_004281.4(BAG3):c.499G>A (p.Gly167Arg) rs543720798
NM_004281.4(BAG3):c.507G>C (p.Glu169Asp) rs1060502812
NM_004281.4(BAG3):c.509G>C (p.Arg170Pro)
NM_004281.4(BAG3):c.521C>T (p.Pro174Leu)
NM_004281.4(BAG3):c.523G>C (p.Ala175Pro)
NM_004281.4(BAG3):c.547T>C (p.Ser183Pro) rs772491154
NM_004281.4(BAG3):c.577A>G (p.Arg193Gly)
NM_004281.4(BAG3):c.580A>G (p.Ser194Gly)
NM_004281.4(BAG3):c.5G>A (p.Ser2Asn) rs1396002893
NM_004281.4(BAG3):c.608G>A (p.Arg203Gln) rs1057524225
NM_004281.4(BAG3):c.608G>C (p.Arg203Pro) rs1057524225
NM_004281.4(BAG3):c.613T>C (p.Tyr205His)
NM_004281.4(BAG3):c.618C>G (p.Ile206Met)
NM_004281.4(BAG3):c.628G>C (p.Val210Leu)
NM_004281.4(BAG3):c.641_667del (p.Gln214_Gln222del)
NM_004281.4(BAG3):c.667C>A (p.Pro223Thr)
NM_004281.4(BAG3):c.724A>G (p.Thr242Ala)
NM_004281.4(BAG3):c.74G>A (p.Gly25Glu)
NM_004281.4(BAG3):c.782G>A (p.Arg261Gln) rs746454994
NM_004281.4(BAG3):c.782G>C (p.Arg261Pro) rs746454994
NM_004281.4(BAG3):c.784G>A (p.Ala262Thr) rs876661343
NM_004281.4(BAG3):c.880C>T (p.Arg294Cys) rs144585878
NM_004281.4(BAG3):c.909+5G>A
NM_004281.4(BAG3):c.917T>C (p.Met306Thr) rs554147128
NM_004281.4(BAG3):c.952G>C (p.Glu318Gln)
NM_004281.4(BAG3):c.95C>G (p.Pro32Arg)
NM_004281.4(BAG3):c.95C>T (p.Pro32Leu)
NM_004281.4(BAG3):c.973C>G (p.Pro325Ala) rs2134068715
NM_004281.4(BAG3):c.983T>G (p.Val328Gly)
NM_004333.6(BRAF):c.106T>G (p.Ser36Ala)
NM_004333.6(BRAF):c.1129G>A (p.Val377Ile)
NM_004333.6(BRAF):c.1136T>C (p.Ile379Thr)
NM_004333.6(BRAF):c.1162T>C (p.Phe388Leu)
NM_004333.6(BRAF):c.130C>A (p.Pro44Thr)
NM_004333.6(BRAF):c.1744A>G (p.Ile582Val)
NM_004333.6(BRAF):c.1826A>C (p.Gln609Pro)
NM_004333.6(BRAF):c.1982A>G (p.Asn661Ser)
NM_004333.6(BRAF):c.2020C>A (p.Leu674Met)
NM_004333.6(BRAF):c.2231G>C (p.Ser744Thr)
NM_004333.6(BRAF):c.305C>T (p.Ser102Phe)
NM_004333.6(BRAF):c.329C>G (p.Ser110Cys)
NM_004333.6(BRAF):c.389T>G (p.Val130Gly)
NM_004333.6(BRAF):c.59A>C (p.Asn20Thr)
NM_004333.6(BRAF):c.619C>A (p.Pro207Thr)
NM_004333.6(BRAF):c.64G>T (p.Asp22Tyr)
NM_004333.6(BRAF):c.76G>A (p.Glu26Lys) rs397507457
NM_004333.6(BRAF):c.80C>G (p.Ala27Gly)
NM_004333.6(BRAF):c.91G>A (p.Ala31Thr)
NM_004387.4(NKX2-5):c.-2C>T
NM_004387.4(NKX2-5):c.100T>C (p.Ser34Pro)
NM_004387.4(NKX2-5):c.117_164dup (p.Ala55_Tyr56insThrLeuAlaProSerSerCysMetLeuAlaAlaPheLysProGluAla)
NM_004387.4(NKX2-5):c.133T>C (p.Ser45Pro)
NM_004387.4(NKX2-5):c.14C>G (p.Pro5Arg)
NM_004387.4(NKX2-5):c.169G>C (p.Ala57Pro)
NM_004387.4(NKX2-5):c.178G>C (p.Glu60Gln) rs766199339
NM_004387.4(NKX2-5):c.199C>G (p.Pro67Ala)
NM_004387.4(NKX2-5):c.199C>T (p.Pro67Ser)
NM_004387.4(NKX2-5):c.248C>G (p.Ala83Gly) rs1182777346
NM_004387.4(NKX2-5):c.248C>T (p.Ala83Val)
NM_004387.4(NKX2-5):c.259C>T (p.Pro87Ser)
NM_004387.4(NKX2-5):c.286G>A (p.Ala96Thr)
NM_004387.4(NKX2-5):c.293G>C (p.Ser98Thr)
NM_004387.4(NKX2-5):c.298C>A (p.Pro100Thr) rs550046293
NM_004387.4(NKX2-5):c.317C>G (p.Pro106Arg)
NM_004387.4(NKX2-5):c.334+3G>A
NM_004387.4(NKX2-5):c.342C>G (p.Cys114Trp) rs760723447
NM_004387.4(NKX2-5):c.350A>C (p.Gln117Pro)
NM_004387.4(NKX2-5):c.351G>C (p.Gln117His)
NM_004387.4(NKX2-5):c.365T>C (p.Leu122Pro)
NM_004387.4(NKX2-5):c.380C>G (p.Ala127Gly)
NM_004387.4(NKX2-5):c.382G>A (p.Asp128Asn)
NM_004387.4(NKX2-5):c.404C>G (p.Ala135Gly)
NM_004387.4(NKX2-5):c.416G>A (p.Arg139Lys)
NM_004387.4(NKX2-5):c.421C>A (p.Pro141Thr)
NM_004387.4(NKX2-5):c.435C>G (p.Phe145Leu)
NM_004387.4(NKX2-5):c.436T>A (p.Ser146Thr)
NM_004387.4(NKX2-5):c.464G>A (p.Arg155Gln)
NM_004387.4(NKX2-5):c.480G>T (p.Gln160His)
NM_004387.4(NKX2-5):c.485A>G (p.Tyr162Cys)
NM_004387.4(NKX2-5):c.520G>A (p.Val174Met)
NM_004387.4(NKX2-5):c.520G>T (p.Val174Leu)
NM_004387.4(NKX2-5):c.549G>C (p.Lys183Asn)
NM_004387.4(NKX2-5):c.554G>C (p.Trp185Ser)
NM_004387.4(NKX2-5):c.590G>C (p.Arg197Pro) rs774482632
NM_004387.4(NKX2-5):c.59T>C (p.Leu20Pro) rs1471444031
NM_004387.4(NKX2-5):c.608A>G (p.Glu203Gly) rs771533553
NM_004387.4(NKX2-5):c.617G>A (p.Gly206Glu)
NM_004387.4(NKX2-5):c.635C>T (p.Pro212Leu) rs372282873
NM_004387.4(NKX2-5):c.65A>C (p.Gln22Pro) rs201442000
NM_004387.4(NKX2-5):c.664G>C (p.Val222Leu)
NM_004387.4(NKX2-5):c.685C>G (p.Pro229Ala) rs2113901265
NM_004387.4(NKX2-5):c.697G>C (p.Asp233His)
NM_004387.4(NKX2-5):c.701C>T (p.Ser234Leu)
NM_004387.4(NKX2-5):c.709T>C (p.Tyr237His) rs1761349696
NM_004387.4(NKX2-5):c.724G>A (p.Gly242Ser) rs867226708
NM_004387.4(NKX2-5):c.739C>A (p.Pro247Thr)
NM_004387.4(NKX2-5):c.770C>T (p.Pro257Leu)
NM_004387.4(NKX2-5):c.784G>T (p.Ala262Ser)
NM_004387.4(NKX2-5):c.787G>C (p.Ala263Pro)
NM_004387.4(NKX2-5):c.799G>C (p.Gly267Arg)
NM_004387.4(NKX2-5):c.806G>A (p.Ser269Asn)
NM_004387.4(NKX2-5):c.817G>C (p.Ala273Pro)
NM_004387.4(NKX2-5):c.829G>C (p.Gly277Arg) rs772729751
NM_004387.4(NKX2-5):c.835T>G (p.Ser279Ala)
NM_004387.4(NKX2-5):c.857C>T (p.Ala286Val)
NM_004387.4(NKX2-5):c.85G>A (p.Ala29Thr) rs1554093718
NM_004387.4(NKX2-5):c.863C>T (p.Ala288Val)
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_004387.4(NKX2-5):c.872A>C (p.Asn291Thr) rs1318592912
NM_004387.4(NKX2-5):c.889G>T (p.Val297Phe) rs569535312
NM_004387.4(NKX2-5):c.899T>C (p.Leu300Ser)
NM_004387.4(NKX2-5):c.900G>C (p.Leu300Phe)
NM_004387.4(NKX2-5):c.932G>A (p.Ser311Asn)
NM_004387.4(NKX2-5):c.950C>T (p.Thr317Met) rs2113900561
NM_004387.4(NKX2-5):c.97C>T (p.Leu33Phe)
NM_004415.4(DSP):c.-2_-1delinsGCA
NM_004415.4(DSP):c.1049A>C (p.Tyr350Ser)
NM_004415.4(DSP):c.1061T>C (p.Leu354Pro)
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.1090A>G (p.Ile364Val) rs886038909
NM_004415.4(DSP):c.109A>G (p.Thr37Ala)
NM_004415.4(DSP):c.1102A>G (p.Ile368Val) rs794728112
NM_004415.4(DSP):c.1135T>A (p.Phe379Ile) rs757853478
NM_004415.4(DSP):c.1180G>A (p.Gly394Arg) rs769054351
NM_004415.4(DSP):c.1188G>T (p.Gln396His)
NM_004415.4(DSP):c.1201A>G (p.Lys401Glu)
NM_004415.4(DSP):c.1222A>G (p.Asn408Asp) rs142129767
NM_004415.4(DSP):c.1266+4delinsATA
NM_004415.4(DSP):c.1267-2A>G rs1554106830
NM_004415.4(DSP):c.1331A>C (p.Lys444Thr) rs1554106843
NM_004415.4(DSP):c.1335T>G (p.Ile445Met) rs898213877
NM_004415.4(DSP):c.1351C>A (p.Arg451Ser)
NM_004415.4(DSP):c.137G>C (p.Gly46Ala)
NM_004415.4(DSP):c.1419G>A (p.Gln473=)
NM_004415.4(DSP):c.1435G>C (p.Gly479Arg) rs1288305110
NM_004415.4(DSP):c.1483_1485delinsTTT (p.Val495Phe) rs1064795582
NM_004415.4(DSP):c.1492C>G (p.Pro498Ala) rs1581803474
NM_004415.4(DSP):c.1513G>A (p.Val505Ile)
NM_004415.4(DSP):c.1548C>G (p.Asn516Lys) rs1407207091
NM_004415.4(DSP):c.1556C>T (p.Ala519Val) rs1395532173
NM_004415.4(DSP):c.1561G>C (p.Asp521His)
NM_004415.4(DSP):c.1575-5C>T
NM_004415.4(DSP):c.1624A>G (p.Ile542Val) rs2113677376
NM_004415.4(DSP):c.1672G>C (p.Glu558Gln)
NM_004415.4(DSP):c.1679T>C (p.Ile560Thr)
NM_004415.4(DSP):c.170+2T>C
NM_004415.4(DSP):c.1736C>T (p.Thr579Met)
NM_004415.4(DSP):c.1775G>T (p.Arg592Ile) rs1759048949
NM_004415.4(DSP):c.178G>A (p.Gly60Ser) rs982933033
NM_004415.4(DSP):c.1816C>G (p.Arg606Gly)
NM_004415.4(DSP):c.1819A>G (p.Lys607Glu)
NM_004415.4(DSP):c.1859A>G (p.Gln620Arg)
NM_004415.4(DSP):c.1865T>G (p.Leu622Arg) rs1554107098
NM_004415.4(DSP):c.1867G>A (p.Val623Ile)
NM_004415.4(DSP):c.1895A>C (p.His632Pro)
NM_004415.4(DSP):c.1903+3C>T rs754326012
NM_004415.4(DSP):c.1907C>A (p.Thr636Asn)
NM_004415.4(DSP):c.1928A>G (p.His643Arg) rs1759064128
NM_004415.4(DSP):c.1954A>T (p.Asn652Tyr)
NM_004415.4(DSP):c.1963A>G (p.Ile655Val)
NM_004415.4(DSP):c.1993G>A (p.Glu665Lys) rs2113679925
NM_004415.4(DSP):c.1997C>T (p.Thr666Ile) rs200053977
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.2043C>A (p.His681Gln)
NM_004415.4(DSP):c.2074C>G (p.Pro692Ala)
NM_004415.4(DSP):c.2119A>G (p.Asn707Asp) rs756272327
NM_004415.4(DSP):c.2159C>G (p.Ala720Gly) rs1261146655
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>C (p.Asn724Thr)
NM_004415.4(DSP):c.2201G>A (p.Arg734Lys) rs1561692443
NM_004415.4(DSP):c.2203G>A (p.Gly735Ser)
NM_004415.4(DSP):c.2204G>T (p.Gly735Val) rs1759154089
NM_004415.4(DSP):c.2234A>C (p.Glu745Ala) rs969462343
NM_004415.4(DSP):c.2279C>T (p.Thr760Ile)
NM_004415.4(DSP):c.2313G>T (p.Arg771Ser)
NM_004415.4(DSP):c.2326G>A (p.Ala776Thr) rs1759178969
NM_004415.4(DSP):c.2344G>T (p.Asp782Tyr) rs2113684062
NM_004415.4(DSP):c.2369G>A (p.Arg790Lys)
NM_004415.4(DSP):c.2470TTG[1] (p.Leu825del)
NM_004415.4(DSP):c.2531A>G (p.Gln844Arg)
NM_004415.4(DSP):c.2552T>C (p.Leu851Pro)
NM_004415.4(DSP):c.2575A>G (p.Lys859Glu) rs1759209975
NM_004415.4(DSP):c.2608A>T (p.Ile870Leu) rs1561693971
NM_004415.4(DSP):c.262A>G (p.Ile88Val) rs1581791030
NM_004415.4(DSP):c.262A>T (p.Ile88Phe)
NM_004415.4(DSP):c.2703G>T (p.Trp901Cys) rs1057519251
NM_004415.4(DSP):c.2704C>T (p.Leu902Phe) rs1443682154
NM_004415.4(DSP):c.2723G>T (p.Arg908Leu) rs142494121
NM_004415.4(DSP):c.2747A>C (p.Lys916Thr) rs1554107730
NM_004415.4(DSP):c.274G>A (p.Glu92Lys)
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) rs755099716
NM_004415.4(DSP):c.279G>C (p.Leu93Phe) rs1447901875
NM_004415.4(DSP):c.2829A>C (p.Lys943Asn)
NM_004415.4(DSP):c.2842C>G (p.Gln948Glu)
NM_004415.4(DSP):c.2876A>C (p.Lys959Thr)
NM_004415.4(DSP):c.2878-3C>T rs1581813359
NM_004415.4(DSP):c.2896G>C (p.Ala966Pro)
NM_004415.4(DSP):c.2897C>T (p.Ala966Val)
NM_004415.4(DSP):c.2917G>C (p.Glu973Gln)
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_004415.4(DSP):c.2936C>G (p.Pro979Arg) rs1759288530
NM_004415.4(DSP):c.293G>C (p.Gly98Ala)
NM_004415.4(DSP):c.2950A>G (p.Met984Val) rs868110541
NM_004415.4(DSP):c.2951T>A (p.Met984Lys) rs1452300736
NM_004415.4(DSP):c.2957A>C (p.Gln986Pro)
NM_004415.4(DSP):c.2958G>T (p.Gln986His) rs786205415
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln) rs371234425
NM_004415.4(DSP):c.3023C>T (p.Thr1008Ile) rs1334187363
NM_004415.4(DSP):c.3027A>T (p.Arg1009Ser)
NM_004415.4(DSP):c.302T>G (p.Leu101Arg)
NM_004415.4(DSP):c.3070T>G (p.Leu1024Val) rs1474315262
NM_004415.4(DSP):c.3071T>G (p.Leu1024Trp)
NM_004415.4(DSP):c.307C>T (p.Arg103Trp) rs375028675
NM_004415.4(DSP):c.3119A>G (p.Glu1040Gly) rs727505147
NM_004415.4(DSP):c.3167A>G (p.Lys1056Arg)
NM_004415.4(DSP):c.3172C>G (p.Leu1058Val)
NM_004415.4(DSP):c.3259G>A (p.Glu1087Lys) rs1561697118
NM_004415.4(DSP):c.3304G>C (p.Gly1102Arg)
NM_004415.4(DSP):c.3311T>C (p.Ile1104Thr)
NM_004415.4(DSP):c.3329A>C (p.Lys1110Thr)
NM_004415.4(DSP):c.3344C>T (p.Thr1115Ile) rs1393151720
NM_004415.4(DSP):c.3346T>C (p.Tyr1116His) rs1581815394
NM_004415.4(DSP):c.3373A>G (p.Arg1125Gly)
NM_004415.4(DSP):c.3439C>A (p.Gln1147Lys)
NM_004415.4(DSP):c.343A>C (p.Asn115His)
NM_004415.4(DSP):c.3490A>C (p.Ile1164Leu)
NM_004415.4(DSP):c.3499_3501del (p.Lys1167del) rs1554108091
NM_004415.4(DSP):c.3513T>G (p.Ile1171Met)
NM_004415.4(DSP):c.3548C>T (p.Thr1183Ile)
NM_004415.4(DSP):c.35A>G (p.Asn12Ser) rs1239489755
NM_004415.4(DSP):c.3607A>T (p.Met1203Leu)
NM_004415.4(DSP):c.3609_3610delinsAG (p.Met1203_Ser1204delinsIleGly) rs1759361326
NM_004415.4(DSP):c.3610A>G (p.Ser1204Gly)
NM_004415.4(DSP):c.3743A>C (p.Asp1248Ala) rs1276847644
NM_004415.4(DSP):c.375C>G (p.Ile125Met)
NM_004415.4(DSP):c.3764G>A (p.Arg1255Lys) rs777407386
NM_004415.4(DSP):c.3796C>G (p.Gln1266Glu)
NM_004415.4(DSP):c.3799C>G (p.Arg1267Gly)
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.3845C>T (p.Ser1282Phe) rs778780656
NM_004415.4(DSP):c.3864G>T (p.Lys1288Asn) rs768166626
NM_004415.4(DSP):c.3919G>T (p.Ala1307Ser)
NM_004415.4(DSP):c.3941A>G (p.Glu1314Gly)
NM_004415.4(DSP):c.3947C>G (p.Ala1316Gly)
NM_004415.4(DSP):c.3956C>T (p.Thr1319Ile) rs138599871
NM_004415.4(DSP):c.397C>G (p.Gln133Glu)
NM_004415.4(DSP):c.3982G>A (p.Glu1328Lys) rs746208168
NM_004415.4(DSP):c.4016A>T (p.Lys1339Met)
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.4028A>C (p.Glu1343Ala)
NM_004415.4(DSP):c.4093C>A (p.Gln1365Lys)
NM_004415.4(DSP):c.4098T>G (p.Phe1366Leu)
NM_004415.4(DSP):c.4109T>A (p.Ile1370Asn) rs1759384359
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.418A>G (p.Lys140Glu)
NM_004415.4(DSP):c.4196C>T (p.Thr1399Ile)
NM_004415.4(DSP):c.4199G>T (p.Arg1400Leu)
NM_004415.4(DSP):c.4202A>T (p.Glu1401Val) rs1759389046
NM_004415.4(DSP):c.4244C>T (p.Thr1415Ile)
NM_004415.4(DSP):c.4261G>A (p.Glu1421Lys) rs769965019
NM_004415.4(DSP):c.4332A>C (p.Lys1444Asn) rs1374798133
NM_004415.4(DSP):c.4352T>C (p.Leu1451Pro) rs1554108296
NM_004415.4(DSP):c.4379A>G (p.Glu1460Gly) rs1759396646
NM_004415.4(DSP):c.4385_4386delinsTT (p.Ser1462Ile) rs730880090
NM_004415.4(DSP):c.43G>A (p.Gly15Ser)
NM_004415.4(DSP):c.4421A>G (p.Lys1474Arg) rs756456881
NM_004415.4(DSP):c.4472A>G (p.Asp1491Gly) rs397516938
NM_004415.4(DSP):c.4487A>T (p.Asp1496Val)
NM_004415.4(DSP):c.4514C>G (p.Ala1505Gly)
NM_004415.4(DSP):c.4527_4559del (p.Arg1509_Ser1519del) rs397516939
NM_004415.4(DSP):c.4558A>T (p.Ser1520Cys) rs780953141
NM_004415.4(DSP):c.4571C>T (p.Thr1524Ile) rs397516941
NM_004415.4(DSP):c.4609C>A (p.Arg1537Ser)
NM_004415.4(DSP):c.4632G>T (p.Arg1544Ser)
NM_004415.4(DSP):c.463G>A (p.Ala155Thr)
NM_004415.4(DSP):c.4648A>T (p.Thr1550Ser)
NM_004415.4(DSP):c.4672C>T (p.Arg1558Trp)
NM_004415.4(DSP):c.4679A>G (p.Gln1560Arg) rs796530013
NM_004415.4(DSP):c.46C>T (p.Arg16Cys)
NM_004415.4(DSP):c.4713G>C (p.Gln1571His) rs375381133
NM_004415.4(DSP):c.4717G>A (p.Val1573Met) rs370171270
NM_004415.4(DSP):c.4723G>A (p.Glu1575Lys) rs727503002
NM_004415.4(DSP):c.4769A>G (p.Lys1590Arg) rs2113694864
NM_004415.4(DSP):c.4780C>G (p.Leu1594Val) rs149463707
NM_004415.4(DSP):c.47G>C (p.Arg16Pro) rs752387234
NM_004415.4(DSP):c.4837A>T (p.Thr1613Ser)
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.4865C>T (p.Ala1622Val)
NM_004415.4(DSP):c.4868C>G (p.Ser1623Cys) rs908086952
NM_004415.4(DSP):c.4870A>G (p.Ile1624Val)
NM_004415.4(DSP):c.4894G>A (p.Asp1632Asn) rs747279731
NM_004415.4(DSP):c.4908G>C (p.Gln1636His)
NM_004415.4(DSP):c.4957G>A (p.Glu1653Lys)
NM_004415.4(DSP):c.4994G>C (p.Arg1665Thr) rs1290867734
NM_004415.4(DSP):c.49A>G (p.Met17Val)
NM_004415.4(DSP):c.5020A>G (p.Ser1674Gly)
NM_004415.4(DSP):c.5057A>T (p.Gln1686Leu)
NM_004415.4(DSP):c.5061G>C (p.Lys1687Asn) rs754404501
NM_004415.4(DSP):c.5108T>A (p.Ile1703Asn) rs794728123
NM_004415.4(DSP):c.5115G>C (p.Arg1705Ser)
NM_004415.4(DSP):c.5123C>G (p.Ser1708Cys) rs372452104
NM_004415.4(DSP):c.5135A>T (p.Asn1712Ile) rs1759433132
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.517A>C (p.Thr173Pro)
NM_004415.4(DSP):c.5191T>A (p.Tyr1731Asn)
NM_004415.4(DSP):c.5291T>A (p.Leu1764Gln) rs767885673
NM_004415.4(DSP):c.5310T>G (p.Ile1770Met)
NM_004415.4(DSP):c.5351T>C (p.Ile1784Thr) rs1554108491
NM_004415.4(DSP):c.540G>C (p.Trp180Cys)
NM_004415.4(DSP):c.5512C>G (p.Arg1838Gly)
NM_004415.4(DSP):c.5527C>G (p.Leu1843Val)
NM_004415.4(DSP):c.5542A>G (p.Arg1848Gly) rs886038805
NM_004415.4(DSP):c.5587G>A (p.Asp1863Asn)
NM_004415.4(DSP):c.5633T>C (p.Ile1878Thr) rs1581820615
NM_004415.4(DSP):c.5657A>G (p.Glu1886Gly) rs1759489572
NM_004415.4(DSP):c.5697C>G (p.Ile1899Met)
NM_004415.4(DSP):c.56G>A (p.Arg19His) rs1757992558
NM_004415.4(DSP):c.5736G>T (p.Arg1912Ser) rs371873840
NM_004415.4(DSP):c.5749C>G (p.Leu1917Val)
NM_004415.4(DSP):c.5757T>G (p.Asp1919Glu) rs727504871
NM_004415.4(DSP):c.5764A>G (p.Arg1922Gly)
NM_004415.4(DSP):c.5785G>A (p.Glu1929Lys)
NM_004415.4(DSP):c.5840A>G (p.Tyr1947Cys)
NM_004415.4(DSP):c.6002T>G (p.Val2001Gly)
NM_004415.4(DSP):c.6041G>A (p.Gly2014Asp)
NM_004415.4(DSP):c.604A>G (p.Met202Val)
NM_004415.4(DSP):c.6055G>T (p.Ala2019Ser) rs771974957
NM_004415.4(DSP):c.6068C>G (p.Ala2023Gly)
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser) rs1759514545
NM_004415.4(DSP):c.612G>C (p.Met204Ile) rs1021314728
NM_004415.4(DSP):c.6148G>C (p.Glu2050Gln)
NM_004415.4(DSP):c.6187C>T (p.Arg2063Trp) rs374090050
NM_004415.4(DSP):c.6241G>T (p.Asp2081Tyr)
NM_004415.4(DSP):c.6258A>G (p.Ile2086Met)
NM_004415.4(DSP):c.6271A>G (p.Lys2091Glu)
NM_004415.4(DSP):c.6274G>A (p.Ala2092Thr)
NM_004415.4(DSP):c.6284G>A (p.Gly2095Asp) rs1554108784
NM_004415.4(DSP):c.6295_6296delinsAT (p.Pro2099Ile) rs587782942
NM_004415.4(DSP):c.6335A>G (p.Lys2112Arg)
NM_004415.4(DSP):c.6349G>C (p.Asp2117His)
NM_004415.4(DSP):c.6367C>A (p.Arg2123Ser)
NM_004415.4(DSP):c.6386T>G (p.Ile2129Ser) rs1401697610
NM_004415.4(DSP):c.6401T>C (p.Val2134Ala)
NM_004415.4(DSP):c.6449C>T (p.Ala2150Val)
NM_004415.4(DSP):c.6547T>C (p.Tyr2183His) rs763549172
NM_004415.4(DSP):c.6580C>T (p.Pro2194Ser)
NM_004415.4(DSP):c.6583C>T (p.His2195Tyr)
NM_004415.4(DSP):c.6584A>G (p.His2195Arg)
NM_004415.4(DSP):c.6586A>G (p.Thr2196Ala) rs2113700741
NM_004415.4(DSP):c.6705A>T (p.Glu2235Asp)
NM_004415.4(DSP):c.6718C>A (p.Gln2240Lys) rs374262024
NM_004415.4(DSP):c.6720G>T (p.Gln2240His)
NM_004415.4(DSP):c.6772A>G (p.Ser2258Gly) rs886038842
NM_004415.4(DSP):c.6778A>G (p.Ile2260Val)
NM_004415.4(DSP):c.67G>A (p.Gly23Ser) rs1757993019
NM_004415.4(DSP):c.682A>G (p.Ile228Val) rs934038992
NM_004415.4(DSP):c.685G>A (p.Gly229Ser) rs376185352
NM_004415.4(DSP):c.686G>A (p.Gly229Asp)
NM_004415.4(DSP):c.6887C>T (p.Ala2296Val)
NM_004415.4(DSP):c.688G>T (p.Asp230Tyr)
NM_004415.4(DSP):c.6917G>C (p.Ser2306Thr)
NM_004415.4(DSP):c.6924G>C (p.Leu2308Phe)
NM_004415.4(DSP):c.695G>T (p.Arg232Leu)
NM_004415.4(DSP):c.6974T>G (p.Phe2325Cys) rs1349503429
NM_004415.4(DSP):c.7019A>G (p.Asn2340Ser)
NM_004415.4(DSP):c.7021G>A (p.Asp2341Asn) rs200314271
NM_004415.4(DSP):c.7060A>G (p.Met2354Val)
NM_004415.4(DSP):c.7121_7122delinsTT (p.Thr2374Ile)
NM_004415.4(DSP):c.7205G>C (p.Ser2402Thr)
NM_004415.4(DSP):c.7249G>A (p.Asp2417Asn)
NM_004415.4(DSP):c.726+1G>A
NM_004415.4(DSP):c.7327C>T (p.Leu2443Phe) rs864309585
NM_004415.4(DSP):c.7347GAA[1] (p.Lys2451del) rs766860183
NM_004415.4(DSP):c.7381C>T (p.Leu2461Phe) rs201863784
NM_004415.4(DSP):c.7382T>A (p.Leu2461His)
NM_004415.4(DSP):c.7385G>A (p.Arg2462Lys)
NM_004415.4(DSP):c.743T>C (p.Ile248Thr) rs1455602530
NM_004415.4(DSP):c.7477T>G (p.Phe2493Val) rs138798656
NM_004415.4(DSP):c.7579C>G (p.Gln2527Glu) rs2113702673
NM_004415.4(DSP):c.7589T>C (p.Ile2530Thr) rs768564872
NM_004415.4(DSP):c.7592A>C (p.Gln2531Pro)
NM_004415.4(DSP):c.7612C>T (p.Leu2538Phe)
NM_004415.4(DSP):c.7643G>C (p.Arg2548Pro)
NM_004415.4(DSP):c.7648G>A (p.Gly2550Ser) rs781151826
NM_004415.4(DSP):c.7678A>G (p.Met2560Val)
NM_004415.4(DSP):c.7718T>C (p.Met2573Thr) rs1759589574
NM_004415.4(DSP):c.7747A>C (p.Ser2583Arg)
NM_004415.4(DSP):c.777+1G>A
NM_004415.4(DSP):c.781G>A (p.Ala261Thr) rs967465931
NM_004415.4(DSP):c.7823C>A (p.Ser2608Tyr) rs777066674
NM_004415.4(DSP):c.782C>G (p.Ala261Gly)
NM_004415.4(DSP):c.7831G>T (p.Asp2611Tyr)
NM_004415.4(DSP):c.7939G>A (p.Gly2647Ser)
NM_004415.4(DSP):c.7991C>A (p.Thr2664Asn) rs1759611499
NM_004415.4(DSP):c.8001G>C (p.Gln2667His) rs758047603
NM_004415.4(DSP):c.8017G>A (p.Asp2673Asn)
NM_004415.4(DSP):c.8068C>A (p.Pro2690Thr)
NM_004415.4(DSP):c.8122T>A (p.Ser2708Thr) rs924262414
NM_004415.4(DSP):c.8128G>T (p.Ala2710Ser) rs1561705003
NM_004415.4(DSP):c.8132A>G (p.Glu2711Gly)
NM_004415.4(DSP):c.8173C>A (p.Arg2725Ser)
NM_004415.4(DSP):c.8183A>C (p.Glu2728Ala)
NM_004415.4(DSP):c.8208dup (p.Val2737fs) rs1581825892
NM_004415.4(DSP):c.8213A>G (p.Asp2738Gly) rs2113704486
NM_004415.4(DSP):c.8215C>T (p.Pro2739Ser)
NM_004415.4(DSP):c.822CAT[1] (p.Ile276del)
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly) rs1198357388
NM_004415.4(DSP):c.8247A>C (p.Glu2749Asp)
NM_004415.4(DSP):c.8254C>T (p.Arg2752Trp)
NM_004415.4(DSP):c.8270A>C (p.Asp2757Ala)
NM_004415.4(DSP):c.8276G>A (p.Arg2759His) rs936541705
NM_004415.4(DSP):c.8300C>G (p.Thr2767Ser)
NM_004415.4(DSP):c.8300C>T (p.Thr2767Ile) rs34884895
NM_004415.4(DSP):c.8302A>G (p.Ser2768Gly)
NM_004415.4(DSP):c.8304C>G (p.Ser2768Arg)
NM_004415.4(DSP):c.8305A>G (p.Ser2769Gly)
NM_004415.4(DSP):c.8347A>G (p.Ile2783Val) rs786205417
NM_004415.4(DSP):c.8426C>T (p.Ser2809Leu)
NM_004415.4(DSP):c.8440C>A (p.Pro2814Thr) rs1303168294
NM_004415.4(DSP):c.8441C>T (p.Pro2814Leu) rs756310918
NM_004415.4(DSP):c.8464G>C (p.Ala2822Pro)
NM_004415.4(DSP):c.8492C>T (p.Ser2831Leu)
NM_004415.4(DSP):c.8493_8504dup (p.2827_2830SGSR[6]) rs748194022
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[3] (p.2827SGSR[6]) rs397516971
NM_004415.4(DSP):c.8513G>A (p.Arg2838His) rs930055191
NM_004415.4(DSP):c.8518G>A (p.Gly2840Arg)
NM_004415.4(DSP):c.8527A>C (p.Ser2843Arg)
NM_004415.4(DSP):c.8560G>A (p.Gly2854Arg)
NM_004415.4(DSP):c.8577_8588del (p.2858YS[1]) rs2113705755
NM_004415.4(DSP):c.8591T>A (p.Phe2864Tyr) rs1554109334
NM_004415.4(DSP):c.8596AGT[1] (p.Ser2868del)
NM_004415.4(DSP):c.898G>T (p.Asp300Tyr)
NM_004415.4(DSP):c.913A>G (p.Ile305Val) rs17604693
NM_004415.4(DSP):c.922A>C (p.Lys308Gln) rs1060500617
NM_004415.4(DSP):c.935_937del (p.Phe312del) rs794728138
NM_004415.4(DSP):c.938C>T (p.Ser313Phe)
NM_004415.4(DSP):c.944G>T (p.Arg315Leu) rs558825586
NM_004415.4(DSP):c.967G>C (p.Glu323Gln) rs1057522287
NM_004415.4(DSP):c.983A>C (p.Lys328Thr)
NM_004444.5(EPHB4):c.1020C>G (p.His340Gln)
NM_004444.5(EPHB4):c.1034C>G (p.Ala345Gly)
NM_004444.5(EPHB4):c.1063C>T (p.Leu355Phe)
NM_004444.5(EPHB4):c.10C>T (p.Arg4Trp)
NM_004444.5(EPHB4):c.1120G>T (p.Gly374Trp)
NM_004444.5(EPHB4):c.1139A>G (p.Asp380Gly)
NM_004444.5(EPHB4):c.11G>A (p.Arg4Gln)
NM_004444.5(EPHB4):c.1250C>T (p.Thr417Met)
NM_004444.5(EPHB4):c.1296G>T (p.Glu432Asp)
NM_004444.5(EPHB4):c.1319T>C (p.Ile440Thr)
NM_004444.5(EPHB4):c.1378C>T (p.Pro460Ser)
NM_004444.5(EPHB4):c.1379C>T (p.Pro460Leu)
NM_004444.5(EPHB4):c.1390G>A (p.Val464Met)
NM_004444.5(EPHB4):c.1429G>A (p.Glu477Lys)
NM_004444.5(EPHB4):c.1435C>T (p.Pro479Ser)
NM_004444.5(EPHB4):c.1448G>A (p.Arg483Gln)
NM_004444.5(EPHB4):c.1471C>T (p.Arg491Trp)
NM_004444.5(EPHB4):c.1483C>T (p.Arg495Trp)
NM_004444.5(EPHB4):c.1520T>G (p.Val507Gly)
NM_004444.5(EPHB4):c.1526C>T (p.Ala509Val)
NM_004444.5(EPHB4):c.1538C>A (p.Ala513Asp)
NM_004444.5(EPHB4):c.1603C>T (p.Arg535Trp)
NM_004444.5(EPHB4):c.160A>G (p.Ser54Gly)
NM_004444.5(EPHB4):c.163G>A (p.Val55Met)
NM_004444.5(EPHB4):c.1655T>G (p.Val552Gly)
NM_004444.5(EPHB4):c.167G>A (p.Arg56His)
NM_004444.5(EPHB4):c.1736G>T (p.Gly579Val)
NM_004444.5(EPHB4):c.1759A>G (p.Thr587Ala)
NM_004444.5(EPHB4):c.1799A>G (p.Asn600Ser)
NM_004444.5(EPHB4):c.1870+5G>C
NM_004444.5(EPHB4):c.1892G>A (p.Arg631Gln)
NM_004444.5(EPHB4):c.1976G>A (p.Arg659His)
NM_004444.5(EPHB4):c.2032C>T (p.Arg678Cys)
NM_004444.5(EPHB4):c.209C>T (p.Ala70Val)
NM_004444.5(EPHB4):c.2114T>C (p.Leu705Pro)
NM_004444.5(EPHB4):c.2119-1G>C
NM_004444.5(EPHB4):c.2126A>T (p.Asp709Val)
NM_004444.5(EPHB4):c.2158A>G (p.Met720Val)
NM_004444.5(EPHB4):c.2159T>C (p.Met720Thr)
NM_004444.5(EPHB4):c.2197G>A (p.Glu733Lys)
NM_004444.5(EPHB4):c.2252A>T (p.Asn751Ile)
NM_004444.5(EPHB4):c.2303A>G (p.Asn768Ser)
NM_004444.5(EPHB4):c.2350A>G (p.Ile784Val)
NM_004444.5(EPHB4):c.2417A>T (p.Tyr806Phe)
NM_004444.5(EPHB4):c.2448T>G (p.Phe816Leu)
NM_004444.5(EPHB4):c.250G>A (p.Val84Ile)
NM_004444.5(EPHB4):c.2635C>T (p.Arg879Trp) rs2116413763
NM_004444.5(EPHB4):c.263C>T (p.Ala88Val)
NM_004444.5(EPHB4):c.2689C>A (p.Pro897Thr)
NM_004444.5(EPHB4):c.2689C>G (p.Pro897Ala)
NM_004444.5(EPHB4):c.271C>T (p.Arg91Cys)
NM_004444.5(EPHB4):c.274T>G (p.Phe92Val)
NM_004444.5(EPHB4):c.2770T>A (p.Tyr924Asn)
NM_004444.5(EPHB4):c.2771A>G (p.Tyr924Cys)
NM_004444.5(EPHB4):c.2791G>A (p.Ala931Thr) rs1304579305
NM_004444.5(EPHB4):c.2838C>A (p.Asp946Glu)
NM_004444.5(EPHB4):c.2839C>A (p.Leu947Met)
NM_004444.5(EPHB4):c.2846G>A (p.Arg949Gln)
NM_004444.5(EPHB4):c.2890A>G (p.Ser964Gly)
NM_004444.5(EPHB4):c.28G>A (p.Ala10Thr)
NM_004444.5(EPHB4):c.291C>G (p.Cys97Trp)
NM_004444.5(EPHB4):c.2923G>A (p.Gly975Arg)
NM_004444.5(EPHB4):c.2948C>T (p.Pro983Leu)
NM_004444.5(EPHB4):c.2954C>T (p.Pro985Leu)
NM_004444.5(EPHB4):c.31T>A (p.Ser11Thr)
NM_004444.5(EPHB4):c.329C>G (p.Thr110Ser)
NM_004444.5(EPHB4):c.351G>C (p.Glu117Asp)
NM_004444.5(EPHB4):c.380C>T (p.Thr127Met)
NM_004444.5(EPHB4):c.41C>T (p.Ala14Val)
NM_004444.5(EPHB4):c.442C>T (p.Arg148Trp)
NM_004444.5(EPHB4):c.449G>A (p.Arg150His)
NM_004444.5(EPHB4):c.469G>A (p.Gly157Arg)
NM_004444.5(EPHB4):c.574C>A (p.Leu192Ile)
NM_004444.5(EPHB4):c.574C>G (p.Leu192Val)
NM_004444.5(EPHB4):c.602C>T (p.Thr201Ile)
NM_004444.5(EPHB4):c.655G>A (p.Val219Met)
NM_004444.5(EPHB4):c.670G>T (p.Val224Leu)
NM_004444.5(EPHB4):c.692C>T (p.Pro231Leu)
NM_004444.5(EPHB4):c.719G>C (p.Arg240Pro)
NM_004444.5(EPHB4):c.778G>A (p.Glu260Lys)
NM_004444.5(EPHB4):c.781G>A (p.Ala261Thr)
NM_004444.5(EPHB4):c.785C>T (p.Ala262Val)
NM_004444.5(EPHB4):c.868G>T (p.Ala290Ser)
NM_004444.5(EPHB4):c.914G>A (p.Arg305His)
NM_004444.5(EPHB4):c.937A>G (p.Thr313Ala)
NM_004444.5(EPHB4):c.997C>T (p.Arg333Cys)
NM_004588.5(SCN2B):c.110C>T (p.Thr37Ile)
NM_004588.5(SCN2B):c.136G>A (p.Ala46Thr)
NM_004588.5(SCN2B):c.146C>T (p.Pro49Leu)
NM_004588.5(SCN2B):c.241C>T (p.Leu81Phe)
NM_004588.5(SCN2B):c.263T>C (p.Ile88Thr)
NM_004588.5(SCN2B):c.280C>T (p.Arg94Trp)
NM_004588.5(SCN2B):c.295G>T (p.Val99Leu) rs772817742
NM_004588.5(SCN2B):c.303C>G (p.Phe101Leu)
NM_004588.5(SCN2B):c.325G>A (p.Asp109Asn)
NM_004588.5(SCN2B):c.34T>G (p.Phe12Val)
NM_004588.5(SCN2B):c.37A>C (p.Ser13Arg)
NM_004588.5(SCN2B):c.404G>A (p.Arg135His)
NM_004588.5(SCN2B):c.436G>A (p.Val146Ile)
NM_004588.5(SCN2B):c.452C>A (p.Pro151His) rs765701955
NM_004588.5(SCN2B):c.457G>A (p.Glu153Lys)
NM_004588.5(SCN2B):c.511G>C (p.Ala171Pro)
NM_004588.5(SCN2B):c.539T>G (p.Val180Gly)
NM_004588.5(SCN2B):c.53G>A (p.Ser18Asn)
NM_004588.5(SCN2B):c.547G>A (p.Val183Met)
NM_004588.5(SCN2B):c.554G>C (p.Arg185Thr)
NM_004588.5(SCN2B):c.554G>T (p.Arg185Ile)
NM_004588.5(SCN2B):c.555A>T (p.Arg185Ser)
NM_004588.5(SCN2B):c.575G>A (p.Ser192Asn)
NM_004588.5(SCN2B):c.576C>A (p.Ser192Arg)
NM_004588.5(SCN2B):c.578C>T (p.Thr193Ile)
NM_004588.5(SCN2B):c.593C>G (p.Thr198Ser)
NM_004588.5(SCN2B):c.598G>A (p.Glu200Lys)
NM_004588.5(SCN2B):c.5A>C (p.His2Pro)
NM_004588.5(SCN2B):c.634G>C (p.Asp212His)
NM_004588.5(SCN2B):c.644A>T (p.Lys215Met)
NM_004588.5(SCN2B):c.73C>G (p.Pro25Ala)
NM_004588.5(SCN2B):c.73_74delinsG (p.Pro25fs)
NM_004612.4(TGFBR1):c.62C>T (p.Ala21Val) rs1554695407
NM_004982.4(KCNJ8):c.103C>G (p.Arg35Gly)
NM_004982.4(KCNJ8):c.1055G>A (p.Arg352Gln)
NM_004982.4(KCNJ8):c.1067G>A (p.Arg356Gln)
NM_004982.4(KCNJ8):c.1174A>G (p.Met392Val)
NM_004982.4(KCNJ8):c.1182G>C (p.Arg394Ser) rs730880120
NM_004982.4(KCNJ8):c.1192_1209dup (p.Ile398_Ser403dup) rs768365303
NM_004982.4(KCNJ8):c.1214T>C (p.Leu405Pro)
NM_004982.4(KCNJ8):c.148A>G (p.Ile50Val)
NM_004982.4(KCNJ8):c.289G>C (p.Ala97Pro)
NM_004982.4(KCNJ8):c.327_341dup (p.Gly114_Leu115insMetGluLysSerGly)
NM_004982.4(KCNJ8):c.353C>G (p.Thr118Ser) rs770087869
NM_004982.4(KCNJ8):c.43G>T (p.Ala15Ser)
NM_004982.4(KCNJ8):c.47G>A (p.Arg16His)
NM_004982.4(KCNJ8):c.49A>G (p.Ile17Val)
NM_004982.4(KCNJ8):c.538A>G (p.Lys180Glu)
NM_004982.4(KCNJ8):c.55G>T (p.Ala19Ser)
NM_004982.4(KCNJ8):c.620G>T (p.Cys207Phe)
NM_004982.4(KCNJ8):c.677G>A (p.Arg226His)
NM_004982.4(KCNJ8):c.707C>G (p.Pro236Arg)
NM_004982.4(KCNJ8):c.719T>C (p.Val240Ala) rs146747000
NM_004982.4(KCNJ8):c.727A>G (p.Ile243Val)
NM_004982.4(KCNJ8):c.760A>G (p.Ile254Val) rs1235054283
NM_004982.4(KCNJ8):c.765G>C (p.Glu255Asp)
NM_004982.4(KCNJ8):c.788C>T (p.Ala263Val)
NM_004982.4(KCNJ8):c.802T>C (p.Cys268Arg)
NM_004982.4(KCNJ8):c.808G>A (p.Val270Met)
NM_004982.4(KCNJ8):c.83G>C (p.Arg28Pro) rs768851540
NM_004982.4(KCNJ8):c.848C>T (p.Thr283Ile)
NM_004982.4(KCNJ8):c.852C>A (p.Asp284Glu)
NM_004982.4(KCNJ8):c.867C>G (p.Asp289Glu)
NM_004982.4(KCNJ8):c.88C>A (p.Arg30Ser) rs749697322
NM_004982.4(KCNJ8):c.88C>T (p.Arg30Cys) rs749697322
NM_004982.4(KCNJ8):c.89G>A (p.Arg30His)
NM_004982.4(KCNJ8):c.952A>G (p.Ile318Val)
NM_004982.4(KCNJ8):c.98A>G (p.Lys33Arg)
NM_004985.5(KRAS):c.153T>G (p.Cys51Trp)
NM_004985.5(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.326T>A (p.Val109Glu)
NM_004985.5(KRAS):c.4A>C (p.Thr2Pro)
NM_005120.3(MED12):c.6288GCA[5] (p.Gln2114_Gln2115del) rs766775649
NM_005159.5(ACTC1):c.-3A>T
NM_005159.5(ACTC1):c.101C>G (p.Pro34Arg) rs1373760624
NM_005159.5(ACTC1):c.1067A>G (p.Gln356Arg) rs2140428997
NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn) rs730880408
NM_005159.5(ACTC1):c.10G>C (p.Asp4His) rs730880408
NM_005159.5(ACTC1):c.1111A>G (p.Ile371Val)
NM_005159.5(ACTC1):c.1112T>C (p.Ile371Thr) rs730880407
NM_005159.5(ACTC1):c.1120C>T (p.Arg374Cys)
NM_005159.5(ACTC1):c.158A>T (p.Asp53Val) rs1555418919
NM_005159.5(ACTC1):c.18G>T (p.Glu6Asp)
NM_005159.5(ACTC1):c.191G>A (p.Arg64Lys) rs869025353
NM_005159.5(ACTC1):c.198C>G (p.Ile66Met)
NM_005159.5(ACTC1):c.1A>T (p.Met1Leu)
NM_005159.5(ACTC1):c.22A>G (p.Thr8Ala) rs730880390
NM_005159.5(ACTC1):c.302A>G (p.Glu101Gly)
NM_005159.5(ACTC1):c.374T>C (p.Met125Thr) rs1595761344
NM_005159.5(ACTC1):c.477T>G (p.Asp159Glu) rs886039144
NM_005159.5(ACTC1):c.485C>T (p.Thr162Ile) rs1379875828
NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala) rs267606628
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr) rs730880409
NM_005159.5(ACTC1):c.521C>A (p.Pro174His)
NM_005159.5(ACTC1):c.523dup (p.His175fs) rs730880389
NM_005159.5(ACTC1):c.532A>T (p.Met178Leu) rs1555418829
NM_005159.5(ACTC1):c.554G>A (p.Arg185Gln)
NM_005159.5(ACTC1):c.583C>T (p.Leu195Phe) rs1891723828
NM_005159.5(ACTC1):c.61G>A (p.Ala21Thr)
NM_005159.5(ACTC1):c.69T>G (p.Phe23Leu) rs1555419008
NM_005159.5(ACTC1):c.713T>C (p.Leu238Pro) rs770397773
NM_005159.5(ACTC1):c.751A>G (p.Thr251Ala) rs730880039
NM_005159.5(ACTC1):c.752C>T (p.Thr251Ile)
NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr) rs730880398
NM_005159.5(ACTC1):c.769T>C (p.Phe257Leu) rs730880399
NM_005159.5(ACTC1):c.778C>T (p.Pro260Ser)
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.5(ACTC1):c.853A>G (p.Met285Val)
NM_005159.5(ACTC1):c.875G>C (p.Arg292Pro)
NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp) rs1595760259
NM_005159.5(ACTC1):c.940C>T (p.Arg314Cys)
NM_005159.5(ACTC1):c.967G>C (p.Ala323Pro) rs771011464
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005159.5(ACTC1):c.970C>T (p.Pro324Ser) rs886038880
NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly) rs1555418679
NM_005159.5(ACTC1):c.991A>T (p.Ile331Phe) rs730880405
NM_005184.4(CALM3):c.-3G>A
NM_005184.4(CALM3):c.178+3G>A
NM_005184.4(CALM3):c.34+3G>A rs775799940
NM_005184.4(CALM3):c.355G>A (p.Asp119Asn)
NM_005184.4(CALM3):c.394G>A (p.Asp132Asn) rs2122250160
NM_005184.4(CALM3):c.421+5G>A
NM_005184.4(CALM3):c.42G>A (p.Lys14=)
NM_005184.4(CALM3):c.442G>A (p.Ala148Thr)
NM_005184.4(CALM3):c.77G>A (p.Gly26Asp)
NM_005188.4(CBL):c.1033C>G (p.Gln345Glu) rs202095002
NM_005188.4(CBL):c.1132T>C (p.Phe378Leu)
NM_005188.4(CBL):c.121C>T (p.His41Tyr)
NM_005188.4(CBL):c.1220C>A (p.Ser407Tyr) rs2135303902
NM_005188.4(CBL):c.1358C>T (p.Pro453Leu)
NM_005188.4(CBL):c.136C>A (p.His46Asn)
NM_005188.4(CBL):c.1393G>T (p.Asp465Tyr)
NM_005188.4(CBL):c.1400T>C (p.Leu467Pro) rs1385198964
NM_005188.4(CBL):c.1439G>A (p.Arg480Gln) rs1949969239
NM_005188.4(CBL):c.1531T>A (p.Ser511Thr)
NM_005188.4(CBL):c.1567G>T (p.Ala523Ser)
NM_005188.4(CBL):c.1601C>T (p.Pro534Leu)
NM_005188.4(CBL):c.1616T>C (p.Leu539Pro)
NM_005188.4(CBL):c.1633C>G (p.Pro545Ala)
NM_005188.4(CBL):c.1697C>G (p.Pro566Arg) rs1428398685
NM_005188.4(CBL):c.1778G>A (p.Arg593Gln) rs730880435
NM_005188.4(CBL):c.1789A>C (p.Lys597Gln)
NM_005188.4(CBL):c.1834A>G (p.Arg612Gly)
NM_005188.4(CBL):c.1847A>C (p.Asn616Thr) rs376094293
NM_005188.4(CBL):c.1847A>G (p.Asn616Ser)
NM_005188.4(CBL):c.18G>T (p.Lys6Asn)
NM_005188.4(CBL):c.1928T>C (p.Leu643Pro)
NM_005188.4(CBL):c.1933A>G (p.Thr645Ala)
NM_005188.4(CBL):c.2070G>T (p.Glu690Asp)
NM_005188.4(CBL):c.2072A>C (p.Gln691Pro)
NM_005188.4(CBL):c.215A>T (p.Asn72Ile)
NM_005188.4(CBL):c.2164T>A (p.Cys722Ser)
NM_005188.4(CBL):c.2180A>G (p.Asp727Gly)
NM_005188.4(CBL):c.2209A>G (p.Ile737Val)
NM_005188.4(CBL):c.2378T>C (p.Ile793Thr)
NM_005188.4(CBL):c.2417A>T (p.Asp806Val)
NM_005188.4(CBL):c.2516G>C (p.Ser839Thr) rs199771745
NM_005188.4(CBL):c.2558C>T (p.Ala853Val)
NM_005188.4(CBL):c.2612A>T (p.Tyr871Phe)
NM_005188.4(CBL):c.2644C>A (p.Gln882Lys)
NM_005188.4(CBL):c.266C>G (p.Pro89Arg)
NM_005188.4(CBL):c.31G>T (p.Ala11Ser)
NM_005188.4(CBL):c.32C>G (p.Ala11Gly)
NM_005188.4(CBL):c.338A>C (p.Glu113Ala)
NM_005188.4(CBL):c.385A>G (p.Thr129Ala)
NM_005188.4(CBL):c.401A>G (p.Lys134Arg) rs2135266374
NM_005188.4(CBL):c.440C>T (p.Pro147Leu)
NM_005188.4(CBL):c.493C>G (p.Leu165Val) rs1555229540
NM_005188.4(CBL):c.656T>C (p.Leu219Pro) rs895664191
NM_005188.4(CBL):c.664A>G (p.Met222Val)
NM_005188.4(CBL):c.682A>G (p.Ile228Val)
NM_005188.4(CBL):c.68G>C (p.Gly23Ala)
NM_005188.4(CBL):c.712G>A (p.Val238Ile)
NM_005188.4(CBL):c.71G>C (p.Gly24Ala)
NM_005343.4(HRAS):c.134T>A (p.Val45Asp) rs1028352031
NM_005343.4(HRAS):c.202C>G (p.Arg68Gly) rs1370690781
NM_005343.4(HRAS):c.290+3G>T
NM_005343.4(HRAS):c.302A>T (p.Lys101Ile)
NM_005343.4(HRAS):c.317C>G (p.Ser106Trp) rs730880462
NM_005343.4(HRAS):c.426C>G (p.Ile142Met) rs533567288
NM_005343.4(HRAS):c.535C>T (p.Pro179Ser) rs1201430199
NM_005472.5(KCNE3):c.104C>T (p.Pro35Leu)
NM_005472.5(KCNE3):c.139C>G (p.Arg47Gly)
NM_005472.5(KCNE3):c.139C>T (p.Arg47Trp)
NM_005472.5(KCNE3):c.177G>A (p.Met59Ile)
NM_005472.5(KCNE3):c.179A>G (p.Tyr60Cys)
NM_005472.5(KCNE3):c.195G>A (p.Met65Ile)
NM_005472.5(KCNE3):c.239C>T (p.Thr80Ile)
NM_005472.5(KCNE3):c.248G>C (p.Arg83Pro) rs17215437
NM_005472.5(KCNE3):c.250A>G (p.Lys84Glu)
NM_005472.5(KCNE3):c.277C>T (p.His93Tyr)
NM_005472.5(KCNE3):c.295C>T (p.Arg99Cys)
NM_005472.5(KCNE3):c.37A>G (p.Ser13Gly) rs1466840832
NM_005472.5(KCNE3):c.38G>A (p.Ser13Asn)
NM_005472.5(KCNE3):c.69del (p.Thr24fs) rs547172459
NM_005472.5(KCNE3):c.83A>G (p.Asn28Ser)
NM_005472.5(KCNE3):c.92G>A (p.Cys31Tyr)
NM_005472.5(KCNE3):c.94del (p.Arg32fs)
NM_005477.3(HCN4):c.-4C>T
NM_005477.3(HCN4):c.1004T>G (p.Met335Arg)
NM_005477.3(HCN4):c.1020C>G (p.Ser340Arg)
NM_005477.3(HCN4):c.1026C>G (p.Phe342Leu) rs2043017188
NM_005477.3(HCN4):c.1069C>T (p.Leu357Phe)
NM_005477.3(HCN4):c.106G>A (p.Gly36Arg) rs886039001
NM_005477.3(HCN4):c.106G>C (p.Gly36Arg) rs886039001
NM_005477.3(HCN4):c.1075G>T (p.Val359Leu)
NM_005477.3(HCN4):c.1090G>T (p.Asp364Tyr) rs151004999
NM_005477.3(HCN4):c.1139C>T (p.Thr380Met)
NM_005477.3(HCN4):c.1159C>G (p.Arg387Gly) rs1420807618
NM_005477.3(HCN4):c.1159C>T (p.Arg387Cys) rs1420807618
NM_005477.3(HCN4):c.119G>A (p.Arg40His)
NM_005477.3(HCN4):c.1209+2_1209+3insGTGA rs786205418
NM_005477.3(HCN4):c.1237A>G (p.Ser413Gly)
NM_005477.3(HCN4):c.1252A>G (p.Ile418Val)
NM_005477.3(HCN4):c.130A>T (p.Ser44Cys)
NM_005477.3(HCN4):c.1342G>A (p.Asp448Asn)
NM_005477.3(HCN4):c.139A>C (p.Ser47Arg)
NM_005477.3(HCN4):c.1419G>A (p.Met473Ile) rs1060500105
NM_005477.3(HCN4):c.1435A>C (p.Ile479Leu) rs1555475985
NM_005477.3(HCN4):c.155C>G (p.Pro52Arg)
NM_005477.3(HCN4):c.1590G>C (p.Lys530Asn) rs1555475961
NM_005477.3(HCN4):c.1623C>A (p.His541Gln)
NM_005477.3(HCN4):c.1642C>T (p.Arg548Trp) rs2042893178
NM_005477.3(HCN4):c.1698G>C (p.Glu566Asp)
NM_005477.3(HCN4):c.170C>T (p.Ser57Phe)
NM_005477.3(HCN4):c.172C>T (p.Pro58Ser) rs1029043200
NM_005477.3(HCN4):c.1733G>A (p.Arg578Gln)
NM_005477.3(HCN4):c.1738-5G>A
NM_005477.3(HCN4):c.173C>T (p.Pro58Leu)
NM_005477.3(HCN4):c.1770_1771delinsTT (p.Ala591Ser)
NM_005477.3(HCN4):c.1771G>T (p.Ala591Ser)
NM_005477.3(HCN4):c.17C>A (p.Pro6Gln) rs772656493
NM_005477.3(HCN4):c.17C>G (p.Pro6Arg) rs772656493
NM_005477.3(HCN4):c.1834C>T (p.Arg612Cys)
NM_005477.3(HCN4):c.1835G>A (p.Arg612His)
NM_005477.3(HCN4):c.1949C>G (p.Thr650Ser) rs2151215400
NM_005477.3(HCN4):c.1981A>G (p.Ile661Val)
NM_005477.3(HCN4):c.2017G>A (p.Val673Met) rs1337923566
NM_005477.3(HCN4):c.2036G>A (p.Cys679Tyr) rs2042884985
NM_005477.3(HCN4):c.2096T>C (p.Met699Thr)
NM_005477.3(HCN4):c.211G>A (p.Ala71Thr)
NM_005477.3(HCN4):c.212C>T (p.Ala71Val)
NM_005477.3(HCN4):c.2137C>T (p.Arg713Cys) rs758371313
NM_005477.3(HCN4):c.2143+5G>A rs547362030
NM_005477.3(HCN4):c.2143+5G>C
NM_005477.3(HCN4):c.215T>A (p.Leu72His)
NM_005477.3(HCN4):c.217G>A (p.Gly73Arg)
NM_005477.3(HCN4):c.2212G>A (p.Glu738Lys) rs1029680367
NM_005477.3(HCN4):c.2243A>G (p.His748Arg) rs750677813
NM_005477.3(HCN4):c.2257G>A (p.Ala753Thr)
NM_005477.3(HCN4):c.2305C>T (p.Pro769Ser)
NM_005477.3(HCN4):c.2306C>A (p.Pro769His)
NM_005477.3(HCN4):c.2359G>T (p.Ala787Ser)
NM_005477.3(HCN4):c.2377A>G (p.Ile793Val)
NM_005477.3(HCN4):c.23T>G (p.Met8Arg) rs749801134
NM_005477.3(HCN4):c.2438G>A (p.Gly813Glu)
NM_005477.3(HCN4):c.2438G>T (p.Gly813Val)
NM_005477.3(HCN4):c.2474A>T (p.His825Leu)
NM_005477.3(HCN4):c.2483G>A (p.Arg828Gln)
NM_005477.3(HCN4):c.250G>A (p.Ala84Thr)
NM_005477.3(HCN4):c.257A>G (p.Lys86Arg)
NM_005477.3(HCN4):c.2636G>C (p.Ser879Thr) rs1193496092
NM_005477.3(HCN4):c.2650C>A (p.Pro884Thr) rs745819208
NM_005477.3(HCN4):c.2650C>T (p.Pro884Ser)
NM_005477.3(HCN4):c.2662G>A (p.Gly888Ser)
NM_005477.3(HCN4):c.2678C>T (p.Pro893Leu)
NM_005477.3(HCN4):c.2714C>T (p.Ala905Val)
NM_005477.3(HCN4):c.2717G>C (p.Gly906Ala)
NM_005477.3(HCN4):c.271G>C (p.Gly91Arg) rs746252218
NM_005477.3(HCN4):c.2770C>T (p.Pro924Ser)
NM_005477.3(HCN4):c.2783del (p.Pro928fs) rs1277827477
NM_005477.3(HCN4):c.2804C>A (p.Ser935Tyr) rs775803239
NM_005477.3(HCN4):c.2839G>T (p.Gly947Trp)
NM_005477.3(HCN4):c.2846G>C (p.Arg949Pro) rs752139441
NM_005477.3(HCN4):c.2864C>A (p.Pro955Gln) rs371562763
NM_005477.3(HCN4):c.2872T>A (p.Phe958Ile) rs1555475219
NM_005477.3(HCN4):c.2879C>A (p.Pro960Gln) rs2042874463
NM_005477.3(HCN4):c.2888C>T (p.Pro963Leu)
NM_005477.3(HCN4):c.2929C>A (p.Gln977Lys) rs1382370606
NM_005477.3(HCN4):c.2985G>C (p.Glu995Asp)
NM_005477.3(HCN4):c.2989C>A (p.Pro997Thr)
NM_005477.3(HCN4):c.2996G>A (p.Arg999Gln)
NM_005477.3(HCN4):c.3001C>A (p.Pro1001Thr)
NM_005477.3(HCN4):c.3034G>A (p.Gly1012Arg)
NM_005477.3(HCN4):c.3065G>A (p.Arg1022Gln) rs1205818947
NM_005477.3(HCN4):c.3065G>T (p.Arg1022Leu)
NM_005477.3(HCN4):c.3077G>A (p.Ser1026Asn) rs886039118
NM_005477.3(HCN4):c.3082C>A (p.Pro1028Thr)
NM_005477.3(HCN4):c.3082C>T (p.Pro1028Ser)
NM_005477.3(HCN4):c.3083C>G (p.Pro1028Arg)
NM_005477.3(HCN4):c.3100C>A (p.Pro1034Thr) rs1158677290
NM_005477.3(HCN4):c.3100C>T (p.Pro1034Ser) rs1158677290
NM_005477.3(HCN4):c.3110C>A (p.Thr1037Asn)
NM_005477.3(HCN4):c.3125C>T (p.Pro1042Leu) rs2042871424
NM_005477.3(HCN4):c.3158T>C (p.Leu1053Pro) rs2042871166
NM_005477.3(HCN4):c.315C>A (p.Ser105Arg)
NM_005477.3(HCN4):c.3166_3168delinsACTGCATCCAGCCCCCCACCACCC (p.Pro1055_Pro1056insThrAlaSerSerProProPro)
NM_005477.3(HCN4):c.3179C>A (p.Pro1060His)
NM_005477.3(HCN4):c.3179C>G (p.Pro1060Arg)
NM_005477.3(HCN4):c.3184C>G (p.Pro1062Ala)
NM_005477.3(HCN4):c.319G>A (p.Gly107Ser) rs2043137058
NM_005477.3(HCN4):c.3202C>A (p.Arg1068Ser)
NM_005477.3(HCN4):c.3212C>T (p.Thr1071Ile)
NM_005477.3(HCN4):c.322G>C (p.Gly108Arg) rs1057524788
NM_005477.3(HCN4):c.3242A>G (p.Gln1081Arg) rs1419820366
NM_005477.3(HCN4):c.3297G>C (p.Gln1099His)
NM_005477.3(HCN4):c.3310G>A (p.Ala1104Thr)
NM_005477.3(HCN4):c.3322T>G (p.Ser1108Ala)
NM_005477.3(HCN4):c.3338T>C (p.Met1113Thr)
NM_005477.3(HCN4):c.3341C>T (p.Ala1114Val)
NM_005477.3(HCN4):c.3353T>A (p.Leu1118His)
NM_005477.3(HCN4):c.3377G>A (p.Ser1126Asn)
NM_005477.3(HCN4):c.3378C>A (p.Ser1126Arg)
NM_005477.3(HCN4):c.3378C>G (p.Ser1126Arg) rs758673317
NM_005477.3(HCN4):c.3385_3402dup (p.Gly1134_Leu1135insSerGlySerSerGlyGly)
NM_005477.3(HCN4):c.338_352dup (p.Ser117_Ser118insThrGlySerGlySer)
NM_005477.3(HCN4):c.3397G>A (p.Gly1133Arg) rs532186403
NM_005477.3(HCN4):c.3446_3447delinsTT (p.His1149Leu) rs2042867595
NM_005477.3(HCN4):c.3488C>A (p.Pro1163His) rs756052150
NM_005477.3(HCN4):c.3497_3500del (p.Ser1166fs) rs774674047
NM_005477.3(HCN4):c.3499_3504del (p.Leu1167_Phe1168del)
NM_005477.3(HCN4):c.3502_3505del (p.Phe1168fs) rs786205259
NM_005477.3(HCN4):c.3503T>G (p.Phe1168Cys)
NM_005477.3(HCN4):c.3524C>A (p.Ser1175Tyr)
NM_005477.3(HCN4):c.3527G>C (p.Gly1176Ala)
NM_005477.3(HCN4):c.3536C>T (p.Pro1179Leu)
NM_005477.3(HCN4):c.3568G>A (p.Ala1190Thr) rs372243234
NM_005477.3(HCN4):c.356A>C (p.His119Pro)
NM_005477.3(HCN4):c.3583G>T (p.Val1195Leu)
NM_005477.3(HCN4):c.3590C>T (p.Ser1197Phe)
NM_005477.3(HCN4):c.3600_3602delinsGTT (p.Ser1201Phe)
NM_005477.3(HCN4):c.3602C>T (p.Ser1201Phe)
NM_005477.3(HCN4):c.368A>G (p.His123Arg) rs1555479000
NM_005477.3(HCN4):c.379G>A (p.Glu127Lys) rs1056770175
NM_005477.3(HCN4):c.406G>A (p.Asp136Asn) rs1294780632
NM_005477.3(HCN4):c.410C>T (p.Ala137Val)
NM_005477.3(HCN4):c.413C>A (p.Ser138Tyr) rs1567801864
NM_005477.3(HCN4):c.415C>G (p.Pro139Ala)
NM_005477.3(HCN4):c.425A>G (p.Asp142Gly)
NM_005477.3(HCN4):c.445G>A (p.Ala149Thr) rs531489450
NM_005477.3(HCN4):c.460C>T (p.Arg154Cys)
NM_005477.3(HCN4):c.47C>T (p.Pro16Leu) rs2043139529
NM_005477.3(HCN4):c.483_500dup (p.Ala162_Pro167dup) rs957058060
NM_005477.3(HCN4):c.487G>T (p.Ala163Ser)
NM_005477.3(HCN4):c.4G>T (p.Asp2Tyr)
NM_005477.3(HCN4):c.503C>T (p.Pro168Leu)
NM_005477.3(HCN4):c.514C>T (p.Pro172Ser)
NM_005477.3(HCN4):c.567A>C (p.Lys189Asn)
NM_005477.3(HCN4):c.597G>C (p.Gln199His)
NM_005477.3(HCN4):c.610G>A (p.Ala204Thr)
NM_005477.3(HCN4):c.620G>T (p.Arg207Leu)
NM_005477.3(HCN4):c.62C>T (p.Ala21Val)
NM_005477.3(HCN4):c.640A>T (p.Met214Leu)
NM_005477.3(HCN4):c.644A>G (p.Gln215Arg) rs2151228399
NM_005477.3(HCN4):c.75C>G (p.Ile25Met)
NM_005477.3(HCN4):c.767A>G (p.His256Arg)
NM_005477.3(HCN4):c.79G>C (p.Asp27His)
NM_005477.3(HCN4):c.82G>T (p.Glu28Ter)
NM_005477.3(HCN4):c.881C>T (p.Pro294Leu)
NM_005477.3(HCN4):c.896A>G (p.Asn299Ser) rs1057518303
NM_005502.4(ABCA1):c.1006G>A (p.Gly336Ser)
NM_005502.4(ABCA1):c.1138G>T (p.Val380Phe)
NM_005502.4(ABCA1):c.1145A>G (p.Lys382Arg)
NM_005502.4(ABCA1):c.1172C>A (p.Ala391Asp)
NM_005502.4(ABCA1):c.1329G>C (p.Arg443Ser)
NM_005502.4(ABCA1):c.1379C>T (p.Ala460Val)
NM_005502.4(ABCA1):c.1435G>C (p.Gly479Arg)
NM_005502.4(ABCA1):c.1442T>G (p.Val481Gly)
NM_005502.4(ABCA1):c.1468G>A (p.Glu490Lys)
NM_005502.4(ABCA1):c.1477C>G (p.Gln493Glu)
NM_005502.4(ABCA1):c.1492A>G (p.Ile498Val)
NM_005502.4(ABCA1):c.1516A>T (p.Asn506Tyr)
NM_005502.4(ABCA1):c.1590G>T (p.Arg530Ser)
NM_005502.4(ABCA1):c.1649A>T (p.His550Leu)
NM_005502.4(ABCA1):c.1685A>G (p.Asn562Ser)
NM_005502.4(ABCA1):c.17A>C (p.Gln6Pro)
NM_005502.4(ABCA1):c.1805A>C (p.Gln602Pro)
NM_005502.4(ABCA1):c.1826C>T (p.Thr609Met)
NM_005502.4(ABCA1):c.1834G>A (p.Glu612Lys)
NM_005502.4(ABCA1):c.1844C>T (p.Thr615Ile)
NM_005502.4(ABCA1):c.1883T>C (p.Val628Ala)
NM_005502.4(ABCA1):c.1960G>A (p.Val654Met)
NM_005502.4(ABCA1):c.2135A>T (p.Tyr712Phe)
NM_005502.4(ABCA1):c.2149G>A (p.Val717Met)
NM_005502.4(ABCA1):c.2233C>G (p.Leu745Val)
NM_005502.4(ABCA1):c.2249G>A (p.Gly750Glu)
NM_005502.4(ABCA1):c.2296G>T (p.Ala766Ser)
NM_005502.4(ABCA1):c.2315G>C (p.Gly772Ala)
NM_005502.4(ABCA1):c.2359T>G (p.Phe787Val)
NM_005502.4(ABCA1):c.2479A>G (p.Met827Val)
NM_005502.4(ABCA1):c.2479A>T (p.Met827Leu)
NM_005502.4(ABCA1):c.2663T>G (p.Met888Arg)
NM_005502.4(ABCA1):c.2848T>C (p.Phe950Leu)
NM_005502.4(ABCA1):c.2855C>T (p.Pro952Leu)
NM_005502.4(ABCA1):c.2861C>T (p.Ser954Leu)
NM_005502.4(ABCA1):c.2869G>A (p.Ala957Thr)
NM_005502.4(ABCA1):c.3055G>A (p.Val1019Ile)
NM_005502.4(ABCA1):c.3202C>G (p.Arg1068Gly)
NM_005502.4(ABCA1):c.3408A>C (p.Glu1136Asp)
NM_005502.4(ABCA1):c.3462+4A>G
NM_005502.4(ABCA1):c.3470G>C (p.Ser1157Thr)
NM_005502.4(ABCA1):c.3545C>T (p.Ala1182Val)
NM_005502.4(ABCA1):c.3605A>G (p.His1202Arg)
NM_005502.4(ABCA1):c.362G>C (p.Ser121Thr)
NM_005502.4(ABCA1):c.3635C>G (p.Ala1212Gly)
NM_005502.4(ABCA1):c.3649G>A (p.Ala1217Thr)
NM_005502.4(ABCA1):c.3679G>A (p.Asp1227Asn)
NM_005502.4(ABCA1):c.3692A>G (p.Asp1231Gly)
NM_005502.4(ABCA1):c.3790G>A (p.Gly1264Ser)
NM_005502.4(ABCA1):c.3892A>T (p.Ile1298Leu)
NM_005502.4(ABCA1):c.3912G>T (p.Glu1304Asp)
NM_005502.4(ABCA1):c.3994C>G (p.Leu1332Val)
NM_005502.4(ABCA1):c.4063G>T (p.Ala1355Ser)
NM_005502.4(ABCA1):c.4121A>C (p.Tyr1374Ser)
NM_005502.4(ABCA1):c.412T>C (p.Ser138Pro)
NM_005502.4(ABCA1):c.4187C>T (p.Pro1396Leu)
NM_005502.4(ABCA1):c.4189G>A (p.Glu1397Lys)
NM_005502.4(ABCA1):c.4381C>T (p.Pro1461Ser)
NM_005502.4(ABCA1):c.4416G>T (p.Lys1472Asn)
NM_005502.4(ABCA1):c.4433C>T (p.Pro1478Leu)
NM_005502.4(ABCA1):c.4438G>A (p.Gly1480Arg)
NM_005502.4(ABCA1):c.4439G>C (p.Gly1480Ala)
NM_005502.4(ABCA1):c.4471C>G (p.Gln1491Glu)
NM_005502.4(ABCA1):c.4665C>G (p.Ile1555Met)
NM_005502.4(ABCA1):c.4675A>C (p.Lys1559Gln)
NM_005502.4(ABCA1):c.4759A>C (p.Lys1587Gln)
NM_005502.4(ABCA1):c.4829A>G (p.Asn1610Ser)
NM_005502.4(ABCA1):c.4975A>G (p.Ile1659Val)
NM_005502.4(ABCA1):c.4991C>T (p.Ala1664Val)
NM_005502.4(ABCA1):c.5464A>G (p.Met1822Val)
NM_005502.4(ABCA1):c.5468T>G (p.Val1823Gly)
NM_005502.4(ABCA1):c.5470A>G (p.Lys1824Glu)
NM_005502.4(ABCA1):c.5475C>A (p.Asn1825Lys)
NM_005502.4(ABCA1):c.5563G>T (p.Ala1855Ser) rs766712712
NM_005502.4(ABCA1):c.5606T>G (p.Leu1869Arg)
NM_005502.4(ABCA1):c.5761T>C (p.Tyr1921His)
NM_005502.4(ABCA1):c.5800G>A (p.Val1934Met)
NM_005502.4(ABCA1):c.5912T>C (p.Phe1971Ser)
NM_005502.4(ABCA1):c.5987C>A (p.Ala1996Asp)
NM_005502.4(ABCA1):c.6003G>C (p.Leu2001Phe)
NM_005502.4(ABCA1):c.6004A>C (p.Thr2002Pro)
NM_005502.4(ABCA1):c.6077A>G (p.Glu2026Gly)
NM_005502.4(ABCA1):c.6113G>A (p.Gly2038Glu)
NM_005502.4(ABCA1):c.6170T>C (p.Met2057Thr)
NM_005502.4(ABCA1):c.6302C>G (p.Ser2101Cys)
NM_005502.4(ABCA1):c.6379A>G (p.Ser2127Gly)
NM_005502.4(ABCA1):c.6412G>A (p.Gly2138Ser)
NM_005502.4(ABCA1):c.6454C>A (p.Leu2152Met)
NM_005502.4(ABCA1):c.6526C>A (p.Leu2176Ile)
NM_005502.4(ABCA1):c.6591C>A (p.Ser2197Arg)
NM_005502.4(ABCA1):c.6607A>G (p.Ile2203Val)
NM_005502.4(ABCA1):c.6681T>A (p.Asp2227Glu)
NM_005502.4(ABCA1):c.6701C>T (p.Ser2234Leu)
NM_005502.4(ABCA1):c.6731T>C (p.Val2244Ala)
NM_005502.4(ABCA1):c.6743C>A (p.Thr2248Lys)
NM_005502.4(ABCA1):c.6760G>A (p.Glu2254Lys)
NM_005502.4(ABCA1):c.712C>G (p.Pro238Ala)
NM_005502.4(ABCA1):c.877A>G (p.Ser293Gly)
NM_005572.4(LMNA):c.1711_1712delinsTC (p.Arg571Ser) rs794728612
NM_005633.4(SOS1):c.-1C>T
NM_005633.4(SOS1):c.1069T>G (p.Leu357Val)
NM_005633.4(SOS1):c.1077G>C (p.Gln359His)
NM_005633.4(SOS1):c.116A>T (p.Glu39Val)
NM_005633.4(SOS1):c.1205A>T (p.Glu402Val)
NM_005633.4(SOS1):c.1220T>A (p.Phe407Tyr)
NM_005633.4(SOS1):c.1252G>C (p.Ala418Pro)
NM_005633.4(SOS1):c.1269C>A (p.Asn423Lys)
NM_005633.4(SOS1):c.1269C>G (p.Asn423Lys) rs138459502
NM_005633.4(SOS1):c.1338G>C (p.Met446Ile)
NM_005633.4(SOS1):c.1357G>A (p.Val453Ile) rs1669848256
NM_005633.4(SOS1):c.1463A>G (p.Tyr488Cys)
NM_005633.4(SOS1):c.1466G>A (p.Arg489His) rs994463655
NM_005633.4(SOS1):c.1495G>T (p.Val499Leu) rs1315811250
NM_005633.4(SOS1):c.1513G>T (p.Asp505Tyr)
NM_005633.4(SOS1):c.1663G>A (p.Asp555Asn)
NM_005633.4(SOS1):c.1666G>A (p.Val556Ile) rs753909912
NM_005633.4(SOS1):c.1673T>C (p.Met558Thr)
NM_005633.4(SOS1):c.1675C>A (p.Leu559Ile)
NM_005633.4(SOS1):c.1686G>T (p.Glu562Asp) rs199778219
NM_005633.4(SOS1):c.1691A>G (p.Glu564Gly)
NM_005633.4(SOS1):c.1748A>C (p.Glu583Ala)
NM_005633.4(SOS1):c.1758_1775dup (p.Asn591_Met592insIleIlePheGluGluAsn)
NM_005633.4(SOS1):c.1759A>G (p.Ile587Val)
NM_005633.4(SOS1):c.1768G>C (p.Glu590Gln) rs730881047
NM_005633.4(SOS1):c.1798A>G (p.Ile600Val)
NM_005633.4(SOS1):c.17T>C (p.Leu6Pro)
NM_005633.4(SOS1):c.1853A>G (p.Tyr618Cys)
NM_005633.4(SOS1):c.1858+5G>T
NM_005633.4(SOS1):c.191C>T (p.Pro64Leu)
NM_005633.4(SOS1):c.1934T>C (p.Ile645Thr)
NM_005633.4(SOS1):c.1987A>G (p.Ile663Val) rs730881024
NM_005633.4(SOS1):c.1990G>C (p.Glu664Gln)
NM_005633.4(SOS1):c.205G>C (p.Asp69His)
NM_005633.4(SOS1):c.2074G>A (p.Val692Ile)
NM_005633.4(SOS1):c.207T>G (p.Asp69Glu)
NM_005633.4(SOS1):c.2089G>A (p.Val697Ile)
NM_005633.4(SOS1):c.2128C>G (p.Leu710Val)
NM_005633.4(SOS1):c.2153T>C (p.Ile718Thr)
NM_005633.4(SOS1):c.2164A>G (p.Arg722Gly)
NM_005633.4(SOS1):c.216A>G (p.Glu72=)
NM_005633.4(SOS1):c.2245G>C (p.Gly749Arg)
NM_005633.4(SOS1):c.2253T>G (p.Asn751Lys) rs1553354376
NM_005633.4(SOS1):c.2446A>G (p.Ile816Val) rs2124511484
NM_005633.4(SOS1):c.2491C>G (p.Leu831Val) rs2124511437
NM_005633.4(SOS1):c.2494A>T (p.Thr832Ser)
NM_005633.4(SOS1):c.2540A>G (p.Glu847Gly)
NM_005633.4(SOS1):c.2545G>A (p.Val849Ile)
NM_005633.4(SOS1):c.263C>A (p.Ala88Asp)
NM_005633.4(SOS1):c.2655A>T (p.Arg885Ser) rs2124503237
NM_005633.4(SOS1):c.2674-3T>C
NM_005633.4(SOS1):c.2690A>G (p.Gln897Arg)
NM_005633.4(SOS1):c.269C>T (p.Ala90Val)
NM_005633.4(SOS1):c.26A>T (p.Glu9Val)
NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)
NM_005633.4(SOS1):c.2836G>C (p.Glu946Gln) rs1558460847
NM_005633.4(SOS1):c.2860G>C (p.Glu954Gln)
NM_005633.4(SOS1):c.289A>G (p.Arg97Gly)
NM_005633.4(SOS1):c.2900T>C (p.Ile967Thr)
NM_005633.4(SOS1):c.2947G>A (p.Val983Ile)
NM_005633.4(SOS1):c.3008A>C (p.Lys1003Thr)
NM_005633.4(SOS1):c.3012A>C (p.Glu1004Asp)
NM_005633.4(SOS1):c.3017C>T (p.Thr1006Ile)
NM_005633.4(SOS1):c.3053C>T (p.Pro1018Leu)
NM_005633.4(SOS1):c.3098A>G (p.Tyr1033Cys)
NM_005633.4(SOS1):c.3191G>C (p.Ser1064Thr)
NM_005633.4(SOS1):c.319G>A (p.Val107Ile)
NM_005633.4(SOS1):c.3215A>C (p.Glu1072Ala)
NM_005633.4(SOS1):c.323A>G (p.Glu108Gly) rs886041923
NM_005633.4(SOS1):c.3317A>G (p.Asp1106Gly)
NM_005633.4(SOS1):c.3322G>C (p.Asp1108His) rs199856844
NM_005633.4(SOS1):c.3329C>G (p.Ser1110Trp) rs572955351
NM_005633.4(SOS1):c.3334C>T (p.Pro1112Ser)
NM_005633.4(SOS1):c.3382C>T (p.His1128Tyr) rs762576997
NM_005633.4(SOS1):c.3391+3_3391+6del rs756201866
NM_005633.4(SOS1):c.3472C>T (p.Arg1158Ter)
NM_005633.4(SOS1):c.3493G>C (p.Glu1165Gln)
NM_005633.4(SOS1):c.3526T>A (p.Leu1176Met)
NM_005633.4(SOS1):c.3583C>T (p.Arg1195Ter)
NM_005633.4(SOS1):c.3601C>T (p.Arg1201Trp) rs752395541
NM_005633.4(SOS1):c.3611T>C (p.Ile1204Thr)
NM_005633.4(SOS1):c.3692_3694del (p.Leu1231del)
NM_005633.4(SOS1):c.3709C>T (p.Pro1237Ser) rs371408734
NM_005633.4(SOS1):c.3722A>G (p.Lys1241Arg)
NM_005633.4(SOS1):c.3730C>T (p.His1244Tyr)
NM_005633.4(SOS1):c.3731A>T (p.His1244Leu)
NM_005633.4(SOS1):c.3748C>T (p.Pro1250Ser) rs1668548624
NM_005633.4(SOS1):c.3763C>G (p.Pro1255Ala)
NM_005633.4(SOS1):c.3773C>G (p.Pro1258Arg)
NM_005633.4(SOS1):c.3775C>A (p.Pro1259Thr)
NM_005633.4(SOS1):c.3778C>G (p.Pro1260Ala) rs779336305
NM_005633.4(SOS1):c.3781C>G (p.Pro1261Ala)
NM_005633.4(SOS1):c.3799C>T (p.His1267Tyr)
NM_005633.4(SOS1):c.3815A>G (p.His1272Arg)
NM_005633.4(SOS1):c.3860T>C (p.Ile1287Thr)
NM_005633.4(SOS1):c.3889A>G (p.Ser1297Gly)
NM_005633.4(SOS1):c.3928T>A (p.Tyr1310Asn)
NM_005633.4(SOS1):c.3948C>G (p.His1316Gln)
NM_005633.4(SOS1):c.3949C>T (p.Pro1317Ser)
NM_005633.4(SOS1):c.3971C>G (p.Pro1324Arg) rs727503434
NM_005633.4(SOS1):c.3977T>C (p.Leu1326Pro) rs1371048349
NM_005633.4(SOS1):c.40G>A (p.Glu14Lys)
NM_005633.4(SOS1):c.454A>T (p.Ile152Leu)
NM_005633.4(SOS1):c.539T>C (p.Val180Ala)
NM_005633.4(SOS1):c.548T>C (p.Ile183Thr) rs772569423
NM_005633.4(SOS1):c.578C>T (p.Pro193Leu)
NM_005633.4(SOS1):c.5A>T (p.Gln2Leu) rs886056026
NM_005633.4(SOS1):c.646A>G (p.Ile216Val)
NM_005633.4(SOS1):c.649A>G (p.Arg217Gly)
NM_005633.4(SOS1):c.668T>C (p.Ile223Thr) rs397517176
NM_005633.4(SOS1):c.695C>G (p.Ser232Cys)
NM_005633.4(SOS1):c.698A>T (p.Asn233Ile)
NM_005633.4(SOS1):c.70G>C (p.Val24Leu)
NM_005633.4(SOS1):c.720+1G>A
NM_005633.4(SOS1):c.746T>C (p.Ile249Thr) rs1324979194
NM_005633.4(SOS1):c.754A>G (p.Ile252Val) rs1158811958
NM_005633.4(SOS1):c.772A>C (p.Lys258Gln)
NM_005633.4(SOS1):c.787A>G (p.Ile263Val)
NM_005633.4(SOS1):c.800T>C (p.Val267Ala)
NM_005633.4(SOS1):c.849_852del (p.Phe283fs)
NM_005633.4(SOS1):c.911G>C (p.Arg304Pro)
NM_005633.4(SOS1):c.961G>A (p.Ala321Thr) rs1558480612
NM_005633.4(SOS1):c.975+4T>C
NM_005751.5(AKAP9):c.10001A>G (p.Gln3334Arg)
NM_005751.5(AKAP9):c.10006C>T (p.Arg3336Trp)
NM_005751.5(AKAP9):c.10014del (p.Leu3339fs)
NM_005751.5(AKAP9):c.10040A>T (p.Glu3347Val)
NM_005751.5(AKAP9):c.10066C>A (p.His3356Asn)
NM_005751.5(AKAP9):c.10127C>T (p.Thr3376Ile)
NM_005751.5(AKAP9):c.1012A>T (p.Ile338Leu)
NM_005751.5(AKAP9):c.10130G>A (p.Arg3377Gln)
NM_005751.5(AKAP9):c.10151G>A (p.Arg3384Lys)
NM_005751.5(AKAP9):c.10198G>A (p.Glu3400Lys)
NM_005751.5(AKAP9):c.10222C>T (p.Leu3408Phe)
NM_005751.5(AKAP9):c.10223T>C (p.Leu3408Pro)
NM_005751.5(AKAP9):c.10229C>A (p.Ser3410Tyr)
NM_005751.5(AKAP9):c.10231A>C (p.Lys3411Gln)
NM_005751.5(AKAP9):c.10241A>T (p.Asp3414Val)
NM_005751.5(AKAP9):c.10250G>A (p.Arg3417His)
NM_005751.5(AKAP9):c.10272A>T (p.Gln3424His) rs1397831091
NM_005751.5(AKAP9):c.10280A>G (p.Tyr3427Cys)
NM_005751.5(AKAP9):c.10294G>T (p.Glu3432Ter)
NM_005751.5(AKAP9):c.10304G>A (p.Arg3435Gln)
NM_005751.5(AKAP9):c.10304G>T (p.Arg3435Leu)
NM_005751.5(AKAP9):c.10327T>C (p.Phe3443Leu)
NM_005751.5(AKAP9):c.10349G>A (p.Arg3450Gln) rs548234238
NM_005751.5(AKAP9):c.1037T>C (p.Leu346Pro)
NM_005751.5(AKAP9):c.10435A>G (p.Asn3479Asp) rs982934060
NM_005751.5(AKAP9):c.10449_10451del (p.Gln3484del)
NM_005751.5(AKAP9):c.10476A>C (p.Glu3492Asp)
NM_005751.5(AKAP9):c.1049A>G (p.Asp350Gly)
NM_005751.5(AKAP9):c.10500A>C (p.Glu3500Asp)
NM_005751.5(AKAP9):c.10519G>A (p.Gly3507Ser)
NM_005751.5(AKAP9):c.10573A>G (p.Lys3525Glu)
NM_005751.5(AKAP9):c.10582G>T (p.Val3528Phe)
NM_005751.5(AKAP9):c.10616T>C (p.Phe3539Ser)
NM_005751.5(AKAP9):c.10627G>A (p.Asp3543Asn)
NM_005751.5(AKAP9):c.10633G>C (p.Glu3545Gln) rs1816925987
NM_005751.5(AKAP9):c.1064C>A (p.Ala355Asp)
NM_005751.5(AKAP9):c.10680A>G (p.Gln3560=)
NM_005751.5(AKAP9):c.10687A>G (p.Lys3563Glu) rs1297567039
NM_005751.5(AKAP9):c.10688A>T (p.Lys3563Ile)
NM_005751.5(AKAP9):c.10691T>C (p.Leu3564Ser) rs1563142906
NM_005751.5(AKAP9):c.10706G>T (p.Gly3569Val)
NM_005751.5(AKAP9):c.10723G>A (p.Val3575Met)
NM_005751.5(AKAP9):c.10724T>C (p.Val3575Ala)
NM_005751.5(AKAP9):c.10748C>T (p.Ser3583Leu)
NM_005751.5(AKAP9):c.10763T>C (p.Leu3588Pro)
NM_005751.5(AKAP9):c.10766T>G (p.Leu3589Arg)
NM_005751.5(AKAP9):c.1081G>T (p.Glu361Ter)
NM_005751.5(AKAP9):c.10860C>A (p.Ile3620=)
NM_005751.5(AKAP9):c.10865G>A (p.Trp3622Ter) rs1563145763
NM_005751.5(AKAP9):c.10890A>C (p.Arg3630Ser)
NM_005751.5(AKAP9):c.10918G>A (p.Gly3640Ser)
NM_005751.5(AKAP9):c.10931T>C (p.Ile3644Thr) rs367598698
NM_005751.5(AKAP9):c.1096A>T (p.Ile366Phe)
NM_005751.5(AKAP9):c.10994C>A (p.Ser3665Tyr)
NM_005751.5(AKAP9):c.10G>C (p.Glu4Gln)
NM_005751.5(AKAP9):c.11005G>C (p.Ala3669Pro)
NM_005751.5(AKAP9):c.1105A>G (p.Lys369Glu)
NM_005751.5(AKAP9):c.11061A>C (p.Gln3687His)
NM_005751.5(AKAP9):c.11074G>A (p.Asp3692Asn)
NM_005751.5(AKAP9):c.11090C>T (p.Thr3697Ile)
NM_005751.5(AKAP9):c.11126A>G (p.Glu3709Gly)
NM_005751.5(AKAP9):c.11134C>T (p.Arg3712Ter)
NM_005751.5(AKAP9):c.11157G>T (p.Lys3719Asn)
NM_005751.5(AKAP9):c.11189A>G (p.Gln3730Arg) rs372297197
NM_005751.5(AKAP9):c.11213C>T (p.Ala3738Val) rs1157417207
NM_005751.5(AKAP9):c.11225G>A (p.Arg3742Gln)
NM_005751.5(AKAP9):c.11228T>G (p.Met3743Arg)
NM_005751.5(AKAP9):c.11229G>A (p.Met3743Ile) rs143306820
NM_005751.5(AKAP9):c.11229G>C (p.Met3743Ile) rs143306820
NM_005751.5(AKAP9):c.11230G>C (p.Gly3744Arg) rs200327385
NM_005751.5(AKAP9):c.11230G>T (p.Gly3744Trp) rs200327385
NM_005751.5(AKAP9):c.11231G>A (p.Gly3744Glu)
NM_005751.5(AKAP9):c.11231G>C (p.Gly3744Ala) rs148318643
NM_005751.5(AKAP9):c.11257G>T (p.Glu3753Ter)
NM_005751.5(AKAP9):c.11267C>T (p.Thr3756Ile)
NM_005751.5(AKAP9):c.11275C>T (p.Pro3759Ser)
NM_005751.5(AKAP9):c.11282G>T (p.Gly3761Val)
NM_005751.5(AKAP9):c.11296C>T (p.Arg3766Trp)
NM_005751.5(AKAP9):c.11311G>A (p.Val3771Ile)
NM_005751.5(AKAP9):c.11327C>G (p.Ser3776Cys)
NM_005751.5(AKAP9):c.11350C>T (p.Arg3784Trp) rs1818400785
NM_005751.5(AKAP9):c.1138C>G (p.Leu380Val)
NM_005751.5(AKAP9):c.11398G>A (p.Gly3800Ser)
NM_005751.5(AKAP9):c.11417-4T>G
NM_005751.5(AKAP9):c.11428A>C (p.Thr3810Pro)
NM_005751.5(AKAP9):c.11435C>T (p.Ser3812Leu)
NM_005751.5(AKAP9):c.1145A>G (p.Asn382Ser)
NM_005751.5(AKAP9):c.11467T>C (p.Tyr3823His)
NM_005751.5(AKAP9):c.11471G>A (p.Gly3824Glu)
NM_005751.5(AKAP9):c.11471G>T (p.Gly3824Val)
NM_005751.5(AKAP9):c.11491T>C (p.Tyr3831His) rs1818679501
NM_005751.5(AKAP9):c.11564C>T (p.Ala3855Val)
NM_005751.5(AKAP9):c.11611G>T (p.Asp3871Tyr)
NM_005751.5(AKAP9):c.11618A>G (p.Asp3873Gly)
NM_005751.5(AKAP9):c.1165_1166del (p.Gln389fs)
NM_005751.5(AKAP9):c.11666G>A (p.Arg3889Gln)
NM_005751.5(AKAP9):c.11680C>T (p.Gln3894Ter)
NM_005751.5(AKAP9):c.11682G>T (p.Gln3894His) rs769718964
NM_005751.5(AKAP9):c.11686+4C>T
NM_005751.5(AKAP9):c.11687-10TC[2]
NM_005751.5(AKAP9):c.1182A>G (p.Ile394Met)
NM_005751.5(AKAP9):c.1183A>C (p.Lys395Gln)
NM_005751.5(AKAP9):c.1242C>G (p.Phe414Leu)
NM_005751.5(AKAP9):c.1253T>G (p.Ile418Arg)
NM_005751.5(AKAP9):c.1300C>T (p.Arg434Trp)
NM_005751.5(AKAP9):c.1337T>G (p.Val446Gly)
NM_005751.5(AKAP9):c.137A>G (p.Lys46Arg)
NM_005751.5(AKAP9):c.1387A>G (p.Met463Val)
NM_005751.5(AKAP9):c.1394C>T (p.Thr465Ile)
NM_005751.5(AKAP9):c.1399C>T (p.His467Tyr)
NM_005751.5(AKAP9):c.141_143delinsCGG (p.Asp48Gly)
NM_005751.5(AKAP9):c.1438A>G (p.Asn480Asp)
NM_005751.5(AKAP9):c.143A>G (p.Asp48Gly)
NM_005751.5(AKAP9):c.1442T>C (p.Ile481Thr)
NM_005751.5(AKAP9):c.1445C>T (p.Thr482Ile)
NM_005751.5(AKAP9):c.1456G>C (p.Asp486His) rs2130664563
NM_005751.5(AKAP9):c.1464A>G (p.Ile488Met)
NM_005751.5(AKAP9):c.146T>A (p.Val49Glu)
NM_005751.5(AKAP9):c.1471A>T (p.Met491Leu)
NM_005751.5(AKAP9):c.1483A>G (p.Ile495Val)
NM_005751.5(AKAP9):c.1534C>T (p.Leu512Phe)
NM_005751.5(AKAP9):c.1549G>C (p.Gly517Arg)
NM_005751.5(AKAP9):c.1580A>G (p.Gln527Arg)
NM_005751.5(AKAP9):c.1588C>G (p.Leu530Val)
NM_005751.5(AKAP9):c.1637G>A (p.Arg546Lys)
NM_005751.5(AKAP9):c.1685A>T (p.His562Leu)
NM_005751.5(AKAP9):c.1718C>G (p.Ala573Gly)
NM_005751.5(AKAP9):c.1783A>G (p.Asn595Asp)
NM_005751.5(AKAP9):c.179C>T (p.Ser60Leu)
NM_005751.5(AKAP9):c.17G>A (p.Arg6Lys)
NM_005751.5(AKAP9):c.1821G>C (p.Lys607Asn)
NM_005751.5(AKAP9):c.1826C>A (p.Ala609Asp) rs140973676
NM_005751.5(AKAP9):c.1838G>C (p.Arg613Thr)
NM_005751.5(AKAP9):c.1841T>C (p.Met614Thr)
NM_005751.5(AKAP9):c.1946G>A (p.Arg649Gln)
NM_005751.5(AKAP9):c.1968dup (p.Asp657fs)
NM_005751.5(AKAP9):c.1979G>T (p.Gly660Val)
NM_005751.5(AKAP9):c.2003A>C (p.Asp668Ala)
NM_005751.5(AKAP9):c.2013G>C (p.Gln671His)
NM_005751.5(AKAP9):c.2022G>A (p.Met674Ile)
NM_005751.5(AKAP9):c.209C>A (p.Ser70Tyr)
NM_005751.5(AKAP9):c.20A>C (p.Gln7Pro)
NM_005751.5(AKAP9):c.2122T>A (p.Ser708Thr)
NM_005751.5(AKAP9):c.2125C>T (p.Leu709Phe)
NM_005751.5(AKAP9):c.2151G>T (p.Met717Ile)
NM_005751.5(AKAP9):c.215G>C (p.Arg72Thr)
NM_005751.5(AKAP9):c.2161A>G (p.Ile721Val)
NM_005751.5(AKAP9):c.2174A>G (p.Gln725Arg)
NM_005751.5(AKAP9):c.2188A>C (p.Ile730Leu)
NM_005751.5(AKAP9):c.2227C>A (p.Gln743Lys)
NM_005751.5(AKAP9):c.2257_2258del (p.Glu753fs)
NM_005751.5(AKAP9):c.2293G>T (p.Asp765Tyr)
NM_005751.5(AKAP9):c.2294A>G (p.Asp765Gly)
NM_005751.5(AKAP9):c.2316A>T (p.Gln772His)
NM_005751.5(AKAP9):c.2362G>A (p.Glu788Lys)
NM_005751.5(AKAP9):c.2370G>T (p.Met790Ile)
NM_005751.5(AKAP9):c.2377A>G (p.Ile793Val)
NM_005751.5(AKAP9):c.2381A>G (p.His794Arg)
NM_005751.5(AKAP9):c.2389G>T (p.Val797Phe)
NM_005751.5(AKAP9):c.2425A>T (p.Ile809Phe) rs144615758
NM_005751.5(AKAP9):c.2447_2448del (p.Ser816fs)
NM_005751.5(AKAP9):c.2472A>G (p.Ile824Met)
NM_005751.5(AKAP9):c.2473C>T (p.Leu825Phe)
NM_005751.5(AKAP9):c.2473_2478del (p.Leu825_Ile826del)
NM_005751.5(AKAP9):c.2474T>C (p.Leu825Pro)
NM_005751.5(AKAP9):c.2506T>C (p.Cys836Arg)
NM_005751.5(AKAP9):c.2582A>C (p.Tyr861Ser)
NM_005751.5(AKAP9):c.2636A>G (p.Glu879Gly)
NM_005751.5(AKAP9):c.2642G>C (p.Ser881Thr)
NM_005751.5(AKAP9):c.2657A>C (p.Glu886Ala)
NM_005751.5(AKAP9):c.2666A>G (p.Tyr889Cys)
NM_005751.5(AKAP9):c.2684C>A (p.Ala895Glu) rs1426532950
NM_005751.5(AKAP9):c.268G>A (p.Gly90Arg)
NM_005751.5(AKAP9):c.2692G>A (p.Glu898Lys)
NM_005751.5(AKAP9):c.2744C>T (p.Ser915Phe)
NM_005751.5(AKAP9):c.2759A>G (p.Asp920Gly)
NM_005751.5(AKAP9):c.2767T>A (p.Phe923Ile)
NM_005751.5(AKAP9):c.2768T>C (p.Phe923Ser) rs1554405166
NM_005751.5(AKAP9):c.2777A>C (p.Glu926Ala)
NM_005751.5(AKAP9):c.2788A>G (p.Met930Val)
NM_005751.5(AKAP9):c.2810A>G (p.Asp937Gly)
NM_005751.5(AKAP9):c.2815A>G (p.Thr939Ala)
NM_005751.5(AKAP9):c.2836G>C (p.Glu946Gln)
NM_005751.5(AKAP9):c.2839G>T (p.Val947Leu)
NM_005751.5(AKAP9):c.2853G>T (p.Glu951Asp)
NM_005751.5(AKAP9):c.2866T>C (p.Ser956Pro)
NM_005751.5(AKAP9):c.2917A>G (p.Ile973Val)
NM_005751.5(AKAP9):c.292G>A (p.Gly98Ser)
NM_005751.5(AKAP9):c.2947T>G (p.Leu983Val)
NM_005751.5(AKAP9):c.2948T>C (p.Leu983Ser)
NM_005751.5(AKAP9):c.2962G>A (p.Glu988Lys)
NM_005751.5(AKAP9):c.2981G>A (p.Cys994Tyr)
NM_005751.5(AKAP9):c.2997_2999del (p.Ile1001del)
NM_005751.5(AKAP9):c.3026T>C (p.Val1009Ala)
NM_005751.5(AKAP9):c.3041C>T (p.Thr1014Ile)
NM_005751.5(AKAP9):c.306+4_306+7del
NM_005751.5(AKAP9):c.3068T>A (p.Val1023Asp) rs886039202
NM_005751.5(AKAP9):c.307-4T>C
NM_005751.5(AKAP9):c.307-5T>G
NM_005751.5(AKAP9):c.3071T>G (p.Val1024Gly)
NM_005751.5(AKAP9):c.3094G>A (p.Glu1032Lys)
NM_005751.5(AKAP9):c.3101C>T (p.Ser1034Leu)
NM_005751.5(AKAP9):c.3118A>G (p.Lys1040Glu) rs1265369157
NM_005751.5(AKAP9):c.3127G>A (p.Gly1043Ser)
NM_005751.5(AKAP9):c.3145A>C (p.Met1049Leu)
NM_005751.5(AKAP9):c.3148G>A (p.Val1050Met)
NM_005751.5(AKAP9):c.3226C>T (p.Pro1076Ser)
NM_005751.5(AKAP9):c.3230C>G (p.Ser1077Cys)
NM_005751.5(AKAP9):c.3255A>C (p.Arg1085Ser)
NM_005751.5(AKAP9):c.325A>G (p.Thr109Ala)
NM_005751.5(AKAP9):c.3275A>C (p.Asn1092Thr)
NM_005751.5(AKAP9):c.3298A>C (p.Asn1100His)
NM_005751.5(AKAP9):c.3311C>T (p.Ser1104Leu)
NM_005751.5(AKAP9):c.3318+4T>C
NM_005751.5(AKAP9):c.3331C>G (p.Leu1111Val)
NM_005751.5(AKAP9):c.3337A>G (p.Met1113Val)
NM_005751.5(AKAP9):c.3380A>T (p.His1127Leu)
NM_005751.5(AKAP9):c.3401A>G (p.Tyr1134Cys)
NM_005751.5(AKAP9):c.3427C>G (p.Leu1143Val)
NM_005751.5(AKAP9):c.343A>G (p.Ser115Gly)
NM_005751.5(AKAP9):c.3449T>G (p.Leu1150Arg)
NM_005751.5(AKAP9):c.3469A>G (p.Lys1157Glu)
NM_005751.5(AKAP9):c.3470A>C (p.Lys1157Thr)
NM_005751.5(AKAP9):c.3538G>A (p.Glu1180Lys) rs1423656714
NM_005751.5(AKAP9):c.3547C>T (p.Pro1183Ser)
NM_005751.5(AKAP9):c.3553C>A (p.His1185Asn)
NM_005751.5(AKAP9):c.3580G>C (p.Ala1194Pro)
NM_005751.5(AKAP9):c.3619T>C (p.Cys1207Arg)
NM_005751.5(AKAP9):c.3631G>T (p.Gly1211Cys) rs746335356
NM_005751.5(AKAP9):c.3635A>G (p.Glu1212Gly)
NM_005751.5(AKAP9):c.3643A>G (p.Thr1215Ala)
NM_005751.5(AKAP9):c.3668A>T (p.Asn1223Ile)
NM_005751.5(AKAP9):c.3676G>A (p.Asp1226Asn)
NM_005751.5(AKAP9):c.3727C>G (p.Gln1243Glu)
NM_005751.5(AKAP9):c.3782A>G (p.Asn1261Ser)
NM_005751.5(AKAP9):c.3787G>A (p.Val1263Ile)
NM_005751.5(AKAP9):c.3797A>G (p.Glu1266Gly)
NM_005751.5(AKAP9):c.37G>A (p.Gly13Ser)
NM_005751.5(AKAP9):c.3800A>G (p.Tyr1267Cys)
NM_005751.5(AKAP9):c.3803A>G (p.Asn1268Ser)
NM_005751.5(AKAP9):c.380C>G (p.Thr127Arg)
NM_005751.5(AKAP9):c.3919A>G (p.Ile1307Val)
NM_005751.5(AKAP9):c.391A>G (p.Thr131Ala)
NM_005751.5(AKAP9):c.3934A>G (p.Thr1312Ala)
NM_005751.5(AKAP9):c.394A>C (p.Asn132His) rs755049262
NM_005751.5(AKAP9):c.394A>G (p.Asn132Asp) rs755049262
NM_005751.5(AKAP9):c.4000A>G (p.Thr1334Ala)
NM_005751.5(AKAP9):c.4007T>A (p.Leu1336His)
NM_005751.5(AKAP9):c.4022A>G (p.Gln1341Arg)
NM_005751.5(AKAP9):c.4031_4034del (p.Glu1344fs)
NM_005751.5(AKAP9):c.4044C>T (p.Ser1348=)
NM_005751.5(AKAP9):c.4046C>T (p.Ser1349Phe)
NM_005751.5(AKAP9):c.406-5T>C
NM_005751.5(AKAP9):c.4064A>C (p.Lys1355Thr)
NM_005751.5(AKAP9):c.4090G>C (p.Glu1364Gln) rs1802542345
NM_005751.5(AKAP9):c.4137G>T (p.Thr1379=)
NM_005751.5(AKAP9):c.419G>A (p.Gly140Asp) rs1447648184
NM_005751.5(AKAP9):c.4216G>A (p.Val1406Met)
NM_005751.5(AKAP9):c.4230T>G (p.Ile1410Met)
NM_005751.5(AKAP9):c.4232A>T (p.Asp1411Val)
NM_005751.5(AKAP9):c.4270G>A (p.Glu1424Lys)
NM_005751.5(AKAP9):c.4286T>C (p.Val1429Ala)
NM_005751.5(AKAP9):c.4336A>C (p.Lys1446Gln)
NM_005751.5(AKAP9):c.4339-4T>C
NM_005751.5(AKAP9):c.4351A>G (p.Met1451Val) rs1330827109
NM_005751.5(AKAP9):c.4360G>A (p.Ala1454Thr) rs760328706
NM_005751.5(AKAP9):c.4370A>G (p.Gln1457Arg)
NM_005751.5(AKAP9):c.4390A>G (p.Ile1464Val)
NM_005751.5(AKAP9):c.4400G>C (p.Gly1467Ala)
NM_005751.5(AKAP9):c.441A>T (p.Glu147Asp) rs185898118
NM_005751.5(AKAP9):c.4420T>C (p.Ser1474Pro)
NM_005751.5(AKAP9):c.4423A>C (p.Lys1475Gln)
NM_005751.5(AKAP9):c.442C>G (p.Gln148Glu)
NM_005751.5(AKAP9):c.4465A>G (p.Asn1489Asp)
NM_005751.5(AKAP9):c.4486G>T (p.Asp1496Tyr) rs1443301693
NM_005751.5(AKAP9):c.4488T>A (p.Asp1496Glu)
NM_005751.5(AKAP9):c.4508T>C (p.Phe1503Ser)
NM_005751.5(AKAP9):c.4534GAA[1] (p.Glu1513del) rs764066037
NM_005751.5(AKAP9):c.4565G>A (p.Gly1522Glu)
NM_005751.5(AKAP9):c.4577A>C (p.Lys1526Thr)
NM_005751.5(AKAP9):c.4577A>G (p.Lys1526Arg)
NM_005751.5(AKAP9):c.4603C>T (p.Pro1535Ser)
NM_005751.5(AKAP9):c.4604C>G (p.Pro1535Arg)
NM_005751.5(AKAP9):c.4607A>C (p.His1536Pro)
NM_005751.5(AKAP9):c.4607A>G (p.His1536Arg)
NM_005751.5(AKAP9):c.4615C>T (p.Pro1539Ser) rs916216692
NM_005751.5(AKAP9):c.4626G>C (p.Lys1542Asn)
NM_005751.5(AKAP9):c.4626G>T (p.Lys1542Asn)
NM_005751.5(AKAP9):c.4637del (p.Leu1546fs)
NM_005751.5(AKAP9):c.4642_4643del (p.Ile1548fs)
NM_005751.5(AKAP9):c.4668T>A (p.Asp1556Glu)
NM_005751.5(AKAP9):c.4679T>C (p.Ile1560Thr)
NM_005751.5(AKAP9):c.4685G>A (p.Arg1562Lys)
NM_005751.5(AKAP9):c.4686_4689del (p.Arg1562fs)
NM_005751.5(AKAP9):c.4696C>A (p.His1566Asn) rs886039037
NM_005751.5(AKAP9):c.4700A>G (p.Asp1567Gly)
NM_005751.5(AKAP9):c.4704G>T (p.Glu1568Asp)
NM_005751.5(AKAP9):c.4707T>G (p.Ile1569Met) rs1207821150
NM_005751.5(AKAP9):c.4724A>T (p.Asp1575Val) rs145763255
NM_005751.5(AKAP9):c.4787G>A (p.Arg1596Gln)
NM_005751.5(AKAP9):c.4804C>T (p.Gln1602Ter)
NM_005751.5(AKAP9):c.4805A>G (p.Gln1602Arg)
NM_005751.5(AKAP9):c.480G>A (p.Met160Ile)
NM_005751.5(AKAP9):c.4859G>A (p.Arg1620Gln)
NM_005751.5(AKAP9):c.485G>C (p.Ser162Thr) rs759783541
NM_005751.5(AKAP9):c.4864G>A (p.Asp1622Asn)
NM_005751.5(AKAP9):c.49-3T>C
NM_005751.5(AKAP9):c.4912G>T (p.Ala1638Ser)
NM_005751.5(AKAP9):c.4913C>T (p.Ala1638Val)
NM_005751.5(AKAP9):c.4925C>T (p.Ser1642Phe)
NM_005751.5(AKAP9):c.4927A>C (p.Ile1643Leu) rs141990258
NM_005751.5(AKAP9):c.4929A>G (p.Ile1643Met)
NM_005751.5(AKAP9):c.4953G>T (p.Glu1651Asp)
NM_005751.5(AKAP9):c.4959G>T (p.Glu1653Asp)
NM_005751.5(AKAP9):c.4962G>C (p.Arg1654Ser) rs746465984
NM_005751.5(AKAP9):c.4970T>C (p.Leu1657Ser)
NM_005751.5(AKAP9):c.5058+4G>A
NM_005751.5(AKAP9):c.5078_5080del (p.Gly1693del) rs771190405
NM_005751.5(AKAP9):c.5099T>A (p.Phe1700Tyr)
NM_005751.5(AKAP9):c.512T>C (p.Ile171Thr)
NM_005751.5(AKAP9):c.5153C>G (p.Ser1718Cys)
NM_005751.5(AKAP9):c.5162+1G>A
NM_005751.5(AKAP9):c.5162+4T>A
NM_005751.5(AKAP9):c.5162+5A>G
NM_005751.5(AKAP9):c.5234T>C (p.Val1745Ala) rs201632145
NM_005751.5(AKAP9):c.5243C>G (p.Thr1748Arg)
NM_005751.5(AKAP9):c.5252G>A (p.Arg1751His)
NM_005751.5(AKAP9):c.5293T>A (p.Ser1765Thr) rs1554430832
NM_005751.5(AKAP9):c.5356G>A (p.Glu1786Lys) rs377560937
NM_005751.5(AKAP9):c.5359C>T (p.His1787Tyr)
NM_005751.5(AKAP9):c.5422A>C (p.Ile1808Leu)
NM_005751.5(AKAP9):c.5429T>C (p.Met1810Thr)
NM_005751.5(AKAP9):c.5476G>A (p.Val1826Met) rs1554435236
NM_005751.5(AKAP9):c.5477T>G (p.Val1826Gly)
NM_005751.5(AKAP9):c.547del (p.Val183fs)
NM_005751.5(AKAP9):c.5486G>A (p.Gly1829Asp)
NM_005751.5(AKAP9):c.5528T>C (p.Met1843Thr) rs538621911
NM_005751.5(AKAP9):c.5568A>T (p.Lys1856Asn) rs886039192
NM_005751.5(AKAP9):c.5602C>T (p.Leu1868Phe)
NM_005751.5(AKAP9):c.5605G>C (p.Glu1869Gln)
NM_005751.5(AKAP9):c.5612C>G (p.Ala1871Gly) rs748884520
NM_005751.5(AKAP9):c.5631del (p.Glu1877fs)
NM_005751.5(AKAP9):c.5639G>T (p.Arg1880Leu)
NM_005751.5(AKAP9):c.5653C>G (p.Gln1885Glu) rs1809744474
NM_005751.5(AKAP9):c.5665G>A (p.Ala1889Thr)
NM_005751.5(AKAP9):c.5690A>G (p.Glu1897Gly)
NM_005751.5(AKAP9):c.5698C>G (p.Arg1900Gly) rs978219635
NM_005751.5(AKAP9):c.5699G>A (p.Arg1900Gln)
NM_005751.5(AKAP9):c.576+5G>A
NM_005751.5(AKAP9):c.5776G>A (p.Gly1926Ser)
NM_005751.5(AKAP9):c.5803del (p.Glu1935fs)
NM_005751.5(AKAP9):c.5810A>G (p.Gln1937Arg)
NM_005751.5(AKAP9):c.587T>C (p.Phe196Ser)
NM_005751.5(AKAP9):c.5891C>T (p.Ala1964Val)
NM_005751.5(AKAP9):c.5894A>T (p.Glu1965Val)
NM_005751.5(AKAP9):c.5947A>C (p.Met1983Leu)
NM_005751.5(AKAP9):c.5951A>C (p.Lys1984Thr)
NM_005751.5(AKAP9):c.5968G>T (p.Val1990Phe) rs767058162
NM_005751.5(AKAP9):c.5977+1G>T
NM_005751.5(AKAP9):c.598A>G (p.Ile200Val)
NM_005751.5(AKAP9):c.5991G>T (p.Glu1997Asp)
NM_005751.5(AKAP9):c.6013A>G (p.Lys2005Glu)
NM_005751.5(AKAP9):c.6026A>G (p.Gln2009Arg)
NM_005751.5(AKAP9):c.6047G>A (p.Arg2016His)
NM_005751.5(AKAP9):c.6049G>A (p.Asp2017Asn)
NM_005751.5(AKAP9):c.6088G>C (p.Val2030Leu)
NM_005751.5(AKAP9):c.6095A>C (p.Glu2032Ala)
NM_005751.5(AKAP9):c.6098A>G (p.Gln2033Arg) rs1810599049
NM_005751.5(AKAP9):c.6121G>A (p.Glu2041Lys)
NM_005751.5(AKAP9):c.6148G>A (p.Asp2050Asn)
NM_005751.5(AKAP9):c.614G>A (p.Gly205Asp)
NM_005751.5(AKAP9):c.6232C>T (p.His2078Tyr)
NM_005751.5(AKAP9):c.6260T>C (p.Ile2087Thr)
NM_005751.5(AKAP9):c.6274C>G (p.Gln2092Glu)
NM_005751.5(AKAP9):c.6289G>C (p.Val2097Leu)
NM_005751.5(AKAP9):c.6298T>A (p.Phe2100Ile)
NM_005751.5(AKAP9):c.6298T>C (p.Phe2100Leu)
NM_005751.5(AKAP9):c.6302A>G (p.Gln2101Arg) rs201545032
NM_005751.5(AKAP9):c.6307A>T (p.Ile2103Phe)
NM_005751.5(AKAP9):c.6319C>G (p.Gln2107Glu)
NM_005751.5(AKAP9):c.6360A>T (p.Glu2120Asp)
NM_005751.5(AKAP9):c.6364dup (p.Thr2122fs)
NM_005751.5(AKAP9):c.6371A>G (p.Lys2124Arg)
NM_005751.5(AKAP9):c.6394A>G (p.Lys2132Glu)
NM_005751.5(AKAP9):c.6413A>G (p.Asp2138Gly)
NM_005751.5(AKAP9):c.6446_6447del (p.Leu2149fs)
NM_005751.5(AKAP9):c.6455G>A (p.Arg2152Lys)
NM_005751.5(AKAP9):c.6458T>C (p.Val2153Ala)
NM_005751.5(AKAP9):c.6472C>T (p.Gln2158Ter)
NM_005751.5(AKAP9):c.6485T>C (p.Val2162Ala)
NM_005751.5(AKAP9):c.6488G>A (p.Ser2163Asn)
NM_005751.5(AKAP9):c.6517C>T (p.Arg2173Ter)
NM_005751.5(AKAP9):c.6548C>G (p.Pro2183Arg)
NM_005751.5(AKAP9):c.6551A>G (p.Glu2184Gly)
NM_005751.5(AKAP9):c.6557C>G (p.Ser2186Cys)
NM_005751.5(AKAP9):c.6568C>G (p.Gln2190Glu)
NM_005751.5(AKAP9):c.656_660del (p.Arg219fs) rs768274954
NM_005751.5(AKAP9):c.6578C>A (p.Ala2193Asp)
NM_005751.5(AKAP9):c.6592A>G (p.Ile2198Val)
NM_005751.5(AKAP9):c.6637G>C (p.Glu2213Gln)
NM_005751.5(AKAP9):c.6639A>T (p.Glu2213Asp)
NM_005751.5(AKAP9):c.6652G>A (p.Glu2218Lys)
NM_005751.5(AKAP9):c.6735A>G (p.Gln2245=)
NM_005751.5(AKAP9):c.6742G>C (p.Glu2248Gln)
NM_005751.5(AKAP9):c.6745C>G (p.Gln2249Glu)
NM_005751.5(AKAP9):c.6750A>C (p.Glu2250Asp)
NM_005751.5(AKAP9):c.6766-4C>T rs1584452484
NM_005751.5(AKAP9):c.6815C>T (p.Ser2272Phe)
NM_005751.5(AKAP9):c.6830A>G (p.His2277Arg)
NM_005751.5(AKAP9):c.6880A>G (p.Ile2294Val)
NM_005751.5(AKAP9):c.6946-3T>C
NM_005751.5(AKAP9):c.6946-5A>G
NM_005751.5(AKAP9):c.7003A>T (p.Met2335Leu)
NM_005751.5(AKAP9):c.7031A>G (p.Asn2344Ser) rs2130860716
NM_005751.5(AKAP9):c.7074A>C (p.Lys2358Asn) rs150968594
NM_005751.5(AKAP9):c.7090G>A (p.Ala2364Thr) rs1408184706
NM_005751.5(AKAP9):c.7094A>G (p.Asn2365Ser)
NM_005751.5(AKAP9):c.7115T>C (p.Met2372Thr)
NM_005751.5(AKAP9):c.7129C>G (p.Leu2377Val)
NM_005751.5(AKAP9):c.7139A>C (p.Glu2380Ala)
NM_005751.5(AKAP9):c.713T>C (p.Leu238Ser)
NM_005751.5(AKAP9):c.7168G>C (p.Val2390Leu)
NM_005751.5(AKAP9):c.7169T>C (p.Val2390Ala)
NM_005751.5(AKAP9):c.7175T>G (p.Ile2392Arg)
NM_005751.5(AKAP9):c.7186C>G (p.Leu2396Val)
NM_005751.5(AKAP9):c.7190C>G (p.Ala2397Gly) rs372568340
NM_005751.5(AKAP9):c.7217A>T (p.Asn2406Ile)
NM_005751.5(AKAP9):c.7219G>C (p.Glu2407Gln)
NM_005751.5(AKAP9):c.7229C>A (p.Thr2410Asn)
NM_005751.5(AKAP9):c.7243G>A (p.Val2415Ile) rs886038843
NM_005751.5(AKAP9):c.7256C>A (p.Thr2419Asn)
NM_005751.5(AKAP9):c.7265A>G (p.Lys2422Arg)
NM_005751.5(AKAP9):c.7274A>G (p.Gln2425Arg)
NM_005751.5(AKAP9):c.7291T>C (p.Phe2431Leu) rs1305633544
NM_005751.5(AKAP9):c.7309C>G (p.Arg2437Gly)
NM_005751.5(AKAP9):c.7340C>G (p.Pro2447Arg)
NM_005751.5(AKAP9):c.740C>G (p.Ala247Gly)
NM_005751.5(AKAP9):c.7427C>T (p.Ser2476Phe)
NM_005751.5(AKAP9):c.7430_7432delinsAA (p.Leu2477fs) rs1554450960
NM_005751.5(AKAP9):c.7432G>A (p.Glu2478Lys)
NM_005751.5(AKAP9):c.7444T>C (p.Tyr2482His)
NM_005751.5(AKAP9):c.7453T>G (p.Ser2485Ala)
NM_005751.5(AKAP9):c.7486A>G (p.Asn2496Asp) rs886038911
NM_005751.5(AKAP9):c.7498A>G (p.Arg2500Gly)
NM_005751.5(AKAP9):c.7517G>A (p.Ser2506Asn)
NM_005751.5(AKAP9):c.7519A>G (p.Thr2507Ala) rs2130862031
NM_005751.5(AKAP9):c.751_752del (p.Leu251fs)
NM_005751.5(AKAP9):c.752_755dup (p.Arg252fs)
NM_005751.5(AKAP9):c.7535A>T (p.Asp2512Val)
NM_005751.5(AKAP9):c.7567A>G (p.Lys2523Glu)
NM_005751.5(AKAP9):c.7573A>C (p.Met2525Leu)
NM_005751.5(AKAP9):c.7582C>G (p.Gln2528Glu)
NM_005751.5(AKAP9):c.7582C>T (p.Gln2528Ter)
NM_005751.5(AKAP9):c.7606C>T (p.Leu2536Phe) rs1554451226
NM_005751.5(AKAP9):c.7643A>T (p.Glu2548Val)
NM_005751.5(AKAP9):c.7700A>T (p.Tyr2567Phe)
NM_005751.5(AKAP9):c.7702G>A (p.Ala2568Thr)
NM_005751.5(AKAP9):c.7789T>G (p.Leu2597Val)
NM_005751.5(AKAP9):c.7790T>G (p.Leu2597Trp)
NM_005751.5(AKAP9):c.77A>C (p.Gln26Pro)
NM_005751.5(AKAP9):c.781G>A (p.Ala261Thr)
NM_005751.5(AKAP9):c.7821A>T (p.Arg2607Ser)
NM_005751.5(AKAP9):c.7833A>T (p.Leu2611Phe)
NM_005751.5(AKAP9):c.7921AAG[1] (p.Lys2642del) rs786205262
NM_005751.5(AKAP9):c.795A>C (p.Gln265His)
NM_005751.5(AKAP9):c.7977_7978del (p.Lys2660fs)
NM_005751.5(AKAP9):c.7982A>G (p.Glu2661Gly)
NM_005751.5(AKAP9):c.8056G>A (p.Gly2686Arg)
NM_005751.5(AKAP9):c.8096T>C (p.Val2699Ala)
NM_005751.5(AKAP9):c.80C>G (p.Ser27Trp)
NM_005751.5(AKAP9):c.811C>G (p.Leu271Val)
NM_005751.5(AKAP9):c.8149G>A (p.Glu2717Lys)
NM_005751.5(AKAP9):c.8149G>C (p.Glu2717Gln)
NM_005751.5(AKAP9):c.8152G>A (p.Glu2718Lys)
NM_005751.5(AKAP9):c.8177T>A (p.Met2726Lys)
NM_005751.5(AKAP9):c.8183C>T (p.Ser2728Phe)
NM_005751.5(AKAP9):c.8201G>A (p.Ser2734Asn)
NM_005751.5(AKAP9):c.8206G>A (p.Val2736Ile)
NM_005751.5(AKAP9):c.8218C>T (p.Leu2740Phe)
NM_005751.5(AKAP9):c.8235G>T (p.Glu2745Asp)
NM_005751.5(AKAP9):c.8258A>T (p.Glu2753Val)
NM_005751.5(AKAP9):c.8276A>G (p.Gln2759Arg)
NM_005751.5(AKAP9):c.8336C>T (p.Ala2779Val) rs886038923
NM_005751.5(AKAP9):c.8344A>G (p.Thr2782Ala)
NM_005751.5(AKAP9):c.8357T>C (p.Leu2786Pro)
NM_005751.5(AKAP9):c.835del (p.Glu279fs) rs2130646435
NM_005751.5(AKAP9):c.8374A>C (p.Asn2792His)
NM_005751.5(AKAP9):c.8383C>A (p.Pro2795Thr)
NM_005751.5(AKAP9):c.8384C>T (p.Pro2795Leu)
NM_005751.5(AKAP9):c.8398A>G (p.Lys2800Glu) rs1554454272
NM_005751.5(AKAP9):c.8494C>G (p.Gln2832Glu)
NM_005751.5(AKAP9):c.8503C>T (p.His2835Tyr)
NM_005751.5(AKAP9):c.8506G>A (p.Ala2836Thr)
NM_005751.5(AKAP9):c.8539A>G (p.Ile2847Val)
NM_005751.5(AKAP9):c.8606G>T (p.Gly2869Val)
NM_005751.5(AKAP9):c.8631T>G (p.Cys2877Trp) rs1563113459
NM_005751.5(AKAP9):c.8660C>G (p.Pro2887Arg)
NM_005751.5(AKAP9):c.8662G>A (p.Glu2888Lys)
NM_005751.5(AKAP9):c.8693G>A (p.Arg2898Lys)
NM_005751.5(AKAP9):c.873AGA[1] (p.Glu292del) rs759956336
NM_005751.5(AKAP9):c.8762T>C (p.Phe2921Ser)
NM_005751.5(AKAP9):c.8782C>T (p.Arg2928Ter) rs746403215
NM_005751.5(AKAP9):c.8833-1G>A rs2130875407
NM_005751.5(AKAP9):c.8890C>T (p.Pro2964Ser)
NM_005751.5(AKAP9):c.8908G>A (p.Asp2970Asn)
NM_005751.5(AKAP9):c.8919T>G (p.Ile2973Met)
NM_005751.5(AKAP9):c.8927T>C (p.Val2976Ala)
NM_005751.5(AKAP9):c.8957C>T (p.Ala2986Val) rs763275190
NM_005751.5(AKAP9):c.8972T>C (p.Ile2991Thr)
NM_005751.5(AKAP9):c.9019G>T (p.Ala3007Ser)
NM_005751.5(AKAP9):c.9052A>C (p.Ser3018Arg)
NM_005751.5(AKAP9):c.9056T>G (p.Phe3019Cys)
NM_005751.5(AKAP9):c.9058T>C (p.Ser3020Pro)
NM_005751.5(AKAP9):c.905A>G (p.Gln302Arg)
NM_005751.5(AKAP9):c.9082C>T (p.Leu3028Phe)
NM_005751.5(AKAP9):c.9134T>C (p.Phe3045Ser)
NM_005751.5(AKAP9):c.9161C>T (p.Thr3054Ile)
NM_005751.5(AKAP9):c.919G>C (p.Val307Leu) rs989895553
NM_005751.5(AKAP9):c.9203T>C (p.Ile3068Thr)
NM_005751.5(AKAP9):c.9213+3A>G
NM_005751.5(AKAP9):c.9214G>A (p.Gly3072Ser)
NM_005751.5(AKAP9):c.9251A>G (p.Lys3084Arg)
NM_005751.5(AKAP9):c.9256G>C (p.Asp3086His)
NM_005751.5(AKAP9):c.9259A>G (p.Arg3087Gly)
NM_005751.5(AKAP9):c.9261_9263del (p.Arg3088del)
NM_005751.5(AKAP9):c.9293A>G (p.His3098Arg)
NM_005751.5(AKAP9):c.9308G>T (p.Gly3103Val)
NM_005751.5(AKAP9):c.9376A>G (p.Ile3126Val) rs2130891688
NM_005751.5(AKAP9):c.9377T>C (p.Ile3126Thr)
NM_005751.5(AKAP9):c.9390G>C (p.Gln3130His)
NM_005751.5(AKAP9):c.93T>G (p.Ser31Arg)
NM_005751.5(AKAP9):c.9416A>G (p.Glu3139Gly)
NM_005751.5(AKAP9):c.9434A>G (p.Asp3145Gly)
NM_005751.5(AKAP9):c.947T>C (p.Val316Ala)
NM_005751.5(AKAP9):c.9481G>T (p.Val3161Phe)
NM_005751.5(AKAP9):c.952A>G (p.Asn318Asp)
NM_005751.5(AKAP9):c.9553C>T (p.His3185Tyr)
NM_005751.5(AKAP9):c.955T>G (p.Ser319Ala)
NM_005751.5(AKAP9):c.9592G>T (p.Asp3198Tyr)
NM_005751.5(AKAP9):c.9593A>G (p.Asp3198Gly)
NM_005751.5(AKAP9):c.961A>G (p.Lys321Glu)
NM_005751.5(AKAP9):c.9698G>T (p.Arg3233Leu)
NM_005751.5(AKAP9):c.9729+4C>T
NM_005751.5(AKAP9):c.9730-3C>T
NM_005751.5(AKAP9):c.9748G>C (p.Glu3250Gln)
NM_005751.5(AKAP9):c.9750G>C (p.Glu3250Asp) rs1304374666
NM_005751.5(AKAP9):c.9808C>G (p.Leu3270Val)
NM_005751.5(AKAP9):c.9824A>G (p.Gln3275Arg)
NM_005751.5(AKAP9):c.9829A>C (p.Ile3277Leu)
NM_005751.5(AKAP9):c.9830T>G (p.Ile3277Arg)
NM_005751.5(AKAP9):c.9845T>C (p.Met3282Thr)
NM_005751.5(AKAP9):c.9923G>A (p.Arg3308Gln)
NM_005751.5(AKAP9):c.992T>C (p.Ile331Thr)
NM_005751.5(AKAP9):c.9938G>A (p.Ser3313Asn)
NM_005751.5(AKAP9):c.9956A>G (p.Glu3319Gly)
NM_005751.5(AKAP9):c.9959G>A (p.Arg3320Gln)
NM_005751.5(AKAP9):c.995A>G (p.Glu332Gly)
NM_005751.5(AKAP9):c.9967C>T (p.His3323Tyr)
NM_005751.5(AKAP9):c.9985A>G (p.Ser3329Gly)
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly) rs886038836
NM_005902.4(SMAD3):c.1243G>C (p.Gly415Arg) rs886038961
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.764T>G (p.Met255Arg) rs886038899
NM_005911.6(MAT2A):c.1042A>G (p.Ile348Val)
NM_005911.6(MAT2A):c.1141G>A (p.Gly381Ser)
NM_005911.6(MAT2A):c.1183T>C (p.Tyr395His)
NM_005911.6(MAT2A):c.158A>G (p.Lys53Arg)
NM_005911.6(MAT2A):c.16A>C (p.Asn6His)
NM_005911.6(MAT2A):c.17A>T (p.Asn6Ile)
NM_005911.6(MAT2A):c.28G>C (p.Glu10Gln)
NM_005911.6(MAT2A):c.343C>A (p.Pro115Thr)
NM_005911.6(MAT2A):c.39C>G (p.Ile13Met)
NM_005911.6(MAT2A):c.440A>G (p.Glu147Gly)
NM_005911.6(MAT2A):c.488A>G (p.Lys163Arg)
NM_005911.6(MAT2A):c.581_582insAGTATATGCAGGACTC (p.Leu196fs)
NM_005911.6(MAT2A):c.676G>A (p.Val226Ile)
NM_005911.6(MAT2A):c.754A>T (p.Ile252Phe)
NM_006073.4(TRDN):c.1034T>C (p.Ile345Thr) rs1459890032
NM_006073.4(TRDN):c.1042G>C (p.Glu348Gln)
NM_006073.4(TRDN):c.1051+1G>A rs535908547
NM_006073.4(TRDN):c.1051+1G>T rs535908547
NM_006073.4(TRDN):c.1052-1G>C
NM_006073.4(TRDN):c.1052-5C>G
NM_006073.4(TRDN):c.1055C>A (p.Pro352Gln) rs754708708
NM_006073.4(TRDN):c.1055C>T (p.Pro352Leu) rs754708708
NM_006073.4(TRDN):c.1098_1099inv (p.Ala367Ser)
NM_006073.4(TRDN):c.1099G>T (p.Ala367Ser)
NM_006073.4(TRDN):c.1135+1G>A
NM_006073.4(TRDN):c.1136-2_1136-1delinsTA
NM_006073.4(TRDN):c.1141A>G (p.Lys381Glu)
NM_006073.4(TRDN):c.1157C>A (p.Pro386His)
NM_006073.4(TRDN):c.1166-1G>A rs1298986609
NM_006073.4(TRDN):c.1166-2A>C
NM_006073.4(TRDN):c.116A>T (p.Asp39Val)
NM_006073.4(TRDN):c.1187-2A>G rs578024729
NM_006073.4(TRDN):c.1197G>T (p.Lys399Asn)
NM_006073.4(TRDN):c.1201G>A (p.Glu401Lys)
NM_006073.4(TRDN):c.1208A>C (p.His403Pro)
NM_006073.4(TRDN):c.120A>G (p.Ile40Met)
NM_006073.4(TRDN):c.1279G>C (p.Glu427Gln)
NM_006073.4(TRDN):c.1282C>G (p.Arg428Gly) rs202219343
NM_006073.4(TRDN):c.1296G>T (p.Glu432Asp)
NM_006073.4(TRDN):c.1300_1308del (p.Gly434_Val436del) rs765757457
NM_006073.4(TRDN):c.1304C>A (p.Ala435Glu) rs370712881
NM_006073.4(TRDN):c.1304C>T (p.Ala435Val) rs370712881
NM_006073.4(TRDN):c.1321G>A (p.Ala441Thr)
NM_006073.4(TRDN):c.1322-1G>A
NM_006073.4(TRDN):c.1327C>T (p.Pro443Ser)
NM_006073.4(TRDN):c.1334A>G (p.Lys445Arg)
NM_006073.4(TRDN):c.1344G>C (p.Glu448Asp)
NM_006073.4(TRDN):c.1370A>G (p.Glu457Gly) rs1275202498
NM_006073.4(TRDN):c.1457C>T (p.Ser486Phe)
NM_006073.4(TRDN):c.1472-5C>T rs2114699560
NM_006073.4(TRDN):c.1474C>T (p.Pro492Ser)
NM_006073.4(TRDN):c.1537C>T (p.Gln513Ter) rs757355311
NM_006073.4(TRDN):c.1549A>G (p.Lys517Glu) rs2114626106
NM_006073.4(TRDN):c.1579A>G (p.Lys527Glu) rs1192853066
NM_006073.4(TRDN):c.157G>C (p.Val53Leu)
NM_006073.4(TRDN):c.1580A>G (p.Lys527Arg)
NM_006073.4(TRDN):c.1584dup (p.Glu529fs)
NM_006073.4(TRDN):c.1594C>G (p.Pro532Ala)
NM_006073.4(TRDN):c.1597+3A>G
NM_006073.4(TRDN):c.1624+1G>A
NM_006073.4(TRDN):c.1624+1G>C rs748011906
NM_006073.4(TRDN):c.1628A>G (p.Gln543Arg)
NM_006073.4(TRDN):c.1690C>A (p.Gln564Lys)
NM_006073.4(TRDN):c.1690C>T (p.Gln564Ter)
NM_006073.4(TRDN):c.1696A>G (p.Lys566Glu)
NM_006073.4(TRDN):c.1700C>A (p.Ala567Asp) rs545470302
NM_006073.4(TRDN):c.1729A>G (p.Lys577Glu) rs1554219149
NM_006073.4(TRDN):c.173T>A (p.Ile58Asn)
NM_006073.4(TRDN):c.1762G>A (p.Glu588Lys)
NM_006073.4(TRDN):c.1762_1763del (p.Glu588fs)
NM_006073.4(TRDN):c.1771T>C (p.Ser591Pro)
NM_006073.4(TRDN):c.1774A>G (p.Ile592Val)
NM_006073.4(TRDN):c.1794del (p.Lys598fs) rs1412913007
NM_006073.4(TRDN):c.1798A>G (p.Thr600Ala)
NM_006073.4(TRDN):c.1805-6_1805-4delinsTTT
NM_006073.4(TRDN):c.1821del (p.Thr608fs)
NM_006073.4(TRDN):c.1832-4C>T
NM_006073.4(TRDN):c.185C>T (p.Ala62Val)
NM_006073.4(TRDN):c.1882A>G (p.Met628Val)
NM_006073.4(TRDN):c.1888C>T (p.His630Tyr)
NM_006073.4(TRDN):c.1894dup (p.Arg632fs)
NM_006073.4(TRDN):c.1900_1903del (p.Glu634fs) rs750469686
NM_006073.4(TRDN):c.1907-2A>G
NM_006073.4(TRDN):c.1907-3_1907-2del
NM_006073.4(TRDN):c.1923_1924del (p.Leu643fs) rs781420323
NM_006073.4(TRDN):c.1963G>T (p.Ala655Ser)
NM_006073.4(TRDN):c.1975+1G>C
NM_006073.4(TRDN):c.1975+4del rs763953757
NM_006073.4(TRDN):c.1984G>T (p.Glu662Ter)
NM_006073.4(TRDN):c.1996G>C (p.Ala666Pro) rs748450167
NM_006073.4(TRDN):c.200T>C (p.Met67Thr)
NM_006073.4(TRDN):c.2050+2_2050+16delinsATTATT
NM_006073.4(TRDN):c.209T>C (p.Leu70Ser)
NM_006073.4(TRDN):c.2130C>A (p.Asp710Glu)
NM_006073.4(TRDN):c.2134C>T (p.Pro712Ser)
NM_006073.4(TRDN):c.214G>A (p.Asp72Asn) rs919863113
NM_006073.4(TRDN):c.214G>T (p.Asp72Tyr)
NM_006073.4(TRDN):c.2150G>A (p.Gly717Asp)
NM_006073.4(TRDN):c.2154A>C (p.Gln718His)
NM_006073.4(TRDN):c.2183G>T (p.Gly728Val)
NM_006073.4(TRDN):c.292G>A (p.Glu98Lys)
NM_006073.4(TRDN):c.306G>T (p.Trp102Cys)
NM_006073.4(TRDN):c.337ATC[1] (p.Ile114del) rs1781228259
NM_006073.4(TRDN):c.344C>T (p.Ser115Leu)
NM_006073.4(TRDN):c.346T>C (p.Ser116Pro) rs768047321
NM_006073.4(TRDN):c.355G>A (p.Glu119Lys)
NM_006073.4(TRDN):c.35C>G (p.Thr12Arg)
NM_006073.4(TRDN):c.366T>A (p.Asp122Glu)
NM_006073.4(TRDN):c.386A>T (p.Asp129Val)
NM_006073.4(TRDN):c.392G>C (p.Gly131Ala)
NM_006073.4(TRDN):c.410C>T (p.Pro137Leu) rs1242484153
NM_006073.4(TRDN):c.427A>C (p.Ile143Leu)
NM_006073.4(TRDN):c.461C>T (p.Pro154Leu)
NM_006073.4(TRDN):c.464A>G (p.Glu155Gly)
NM_006073.4(TRDN):c.478A>T (p.Thr160Ser)
NM_006073.4(TRDN):c.520_550+494del rs1562358749
NM_006073.4(TRDN):c.52G>A (p.Asp18Asn)
NM_006073.4(TRDN):c.537A>T (p.Lys179Asn)
NM_006073.4(TRDN):c.542A>C (p.Glu181Ala)
NM_006073.4(TRDN):c.551C>A (p.Ala184Glu)
NM_006073.4(TRDN):c.601_610+45delinsG
NM_006073.4(TRDN):c.611A>G (p.Glu204Gly)
NM_006073.4(TRDN):c.65G>T (p.Gly22Val)
NM_006073.4(TRDN):c.68C>G (p.Ser23Cys)
NM_006073.4(TRDN):c.691A>G (p.Lys231Glu)
NM_006073.4(TRDN):c.70G>A (p.Val24Met)
NM_006073.4(TRDN):c.713A>G (p.Lys238Arg)
NM_006073.4(TRDN):c.713AAG[1] (p.Glu239del)
NM_006073.4(TRDN):c.730C>A (p.Pro244Thr) rs2114833034
NM_006073.4(TRDN):c.731del (p.Pro244fs) rs1440670208
NM_006073.4(TRDN):c.749A>G (p.Lys250Arg)
NM_006073.4(TRDN):c.772G>C (p.Val258Leu)
NM_006073.4(TRDN):c.772G>T (p.Val258Leu)
NM_006073.4(TRDN):c.77A>G (p.Lys26Arg)
NM_006073.4(TRDN):c.782A>G (p.His261Arg)
NM_006073.4(TRDN):c.793G>T (p.Asp265Tyr) rs1021886509
NM_006073.4(TRDN):c.80C>T (p.Ser27Phe) rs770488451
NM_006073.4(TRDN):c.854-2A>T
NM_006073.4(TRDN):c.854G>A (p.Gly285Glu)
NM_006073.4(TRDN):c.865G>A (p.Ala289Thr)
NM_006073.4(TRDN):c.874C>T (p.Pro292Ser)
NM_006073.4(TRDN):c.877C>T (p.Pro293Ser)
NM_006073.4(TRDN):c.881T>A (p.Leu294Ter)
NM_006073.4(TRDN):c.932-1G>C
NM_006073.4(TRDN):c.979A>G (p.Thr327Ala)
NM_006258.4(PRKG1):c.1661C>T (p.Ala554Val) rs748543896
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006393.3(NEBL):c.791C>T (p.Ala264Val) rs548922223
NM_006393.3(NEBL):c.826A>G (p.Met276Val) rs1373986579
NM_006440.5(TXNRD2):c.-2C>T
NM_006440.5(TXNRD2):c.-5C>A
NM_006440.5(TXNRD2):c.104-3C>T
NM_006440.5(TXNRD2):c.104C>T (p.Ala35Val)
NM_006440.5(TXNRD2):c.1077_1078insCATTG (p.Val360fs)
NM_006440.5(TXNRD2):c.1081G>C (p.Val361Leu)
NM_006440.5(TXNRD2):c.1088G>A (p.Gly363Glu)
NM_006440.5(TXNRD2):c.1124G>T (p.Gly375Val)
NM_006440.5(TXNRD2):c.1142G>A (p.Arg381Gln) rs774909194
NM_006440.5(TXNRD2):c.1150G>C (p.Gly384Arg) rs192869629
NM_006440.5(TXNRD2):c.1153G>A (p.Gly385Arg) rs528059873
NM_006440.5(TXNRD2):c.1180A>G (p.Asn394Asp)
NM_006440.5(TXNRD2):c.1183-5T>C
NM_006440.5(TXNRD2):c.11T>C (p.Met4Thr) rs1429174414
NM_006440.5(TXNRD2):c.1205C>T (p.Pro402Leu)
NM_006440.5(TXNRD2):c.1250C>T (p.Ala417Val)
NM_006440.5(TXNRD2):c.1253G>A (p.Arg418His) rs1388670551
NM_006440.5(TXNRD2):c.1256A>C (p.His419Pro)
NM_006440.5(TXNRD2):c.1258G>A (p.Gly420Arg)
NM_006440.5(TXNRD2):c.1262A>G (p.Gln421Arg)
NM_006440.5(TXNRD2):c.127C>G (p.Leu43Val)
NM_006440.5(TXNRD2):c.1350G>T (p.Met450Ile)
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs) rs758790391
NM_006440.5(TXNRD2):c.1407C>T (p.Asn469=) rs200063300
NM_006440.5(TXNRD2):c.1408G>A (p.Ala470Thr)
NM_006440.5(TXNRD2):c.1420A>G (p.Thr474Ala)
NM_006440.5(TXNRD2):c.1431T>A (p.Phe477Leu)
NM_006440.5(TXNRD2):c.1445+5G>C
NM_006440.5(TXNRD2):c.1451G>A (p.Gly484Glu) rs1409074647
NM_006440.5(TXNRD2):c.1471A>G (p.Met491Val)
NM_006440.5(TXNRD2):c.1478C>T (p.Thr493Ile)
NM_006440.5(TXNRD2):c.1496C>T (p.Thr499Ile)
NM_006440.5(TXNRD2):c.1498T>C (p.Cys500Arg)
NM_006440.5(TXNRD2):c.1553C>T (p.Thr518Met)
NM_006440.5(TXNRD2):c.1573T>C (p.Ter525Gln)
NM_006440.5(TXNRD2):c.172+2del
NM_006440.5(TXNRD2):c.175G>C (p.Ala59Pro)
NM_006440.5(TXNRD2):c.175_177delinsACT (p.Ala59Thr)
NM_006440.5(TXNRD2):c.17T>C (p.Val6Ala)
NM_006440.5(TXNRD2):c.200T>C (p.Val67Ala)
NM_006440.5(TXNRD2):c.20C>G (p.Ala7Gly)
NM_006440.5(TXNRD2):c.20C>T (p.Ala7Val)
NM_006440.5(TXNRD2):c.229+5G>C
NM_006440.5(TXNRD2):c.230-4C>T
NM_006440.5(TXNRD2):c.250G>A (p.Gly84Ser)
NM_006440.5(TXNRD2):c.268G>A (p.Gly90Ser)
NM_006440.5(TXNRD2):c.26G>C (p.Arg9Pro)
NM_006440.5(TXNRD2):c.271T>C (p.Cys91Arg)
NM_006440.5(TXNRD2):c.299C>A (p.Ala100Glu) rs767878935
NM_006440.5(TXNRD2):c.314G>A (p.Gly105Asp)
NM_006440.5(TXNRD2):c.335A>G (p.Asn112Ser)
NM_006440.5(TXNRD2):c.337T>C (p.Tyr113His) rs869025560
NM_006440.5(TXNRD2):c.350T>C (p.Val117Ala) rs770727890
NM_006440.5(TXNRD2):c.35G>A (p.Gly12Glu)
NM_006440.5(TXNRD2):c.364C>G (p.Pro122Ala)
NM_006440.5(TXNRD2):c.365C>T (p.Pro122Leu)
NM_006440.5(TXNRD2):c.373T>C (p.Trp125Arg)
NM_006440.5(TXNRD2):c.375-2A>G
NM_006440.5(TXNRD2):c.37G>A (p.Gly13Arg)
NM_006440.5(TXNRD2):c.391del (p.Ala131fs)
NM_006440.5(TXNRD2):c.392C>G (p.Ala131Gly) rs368359642
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu) rs2146120283
NM_006440.5(TXNRD2):c.420C>G (p.Asn140Lys)
NM_006440.5(TXNRD2):c.431G>A (p.Arg144His) rs748674090
NM_006440.5(TXNRD2):c.431G>T (p.Arg144Leu)
NM_006440.5(TXNRD2):c.449+1G>T
NM_006440.5(TXNRD2):c.490G>A (p.Glu164Lys)
NM_006440.5(TXNRD2):c.512C>T (p.Ala171Val)
NM_006440.5(TXNRD2):c.516del (p.Gly173fs)
NM_006440.5(TXNRD2):c.528+2T>C rs775856560
NM_006440.5(TXNRD2):c.544G>C (p.Asp182His)
NM_006440.5(TXNRD2):c.55A>G (p.Thr19Ala)
NM_006440.5(TXNRD2):c.560C>T (p.Ala187Val)
NM_006440.5(TXNRD2):c.587C>A (p.Thr196Lys)
NM_006440.5(TXNRD2):c.591+1G>A rs200610775
NM_006440.5(TXNRD2):c.591+5G>C
NM_006440.5(TXNRD2):c.599G>A (p.Gly200Asp) rs112854076
NM_006440.5(TXNRD2):c.620C>T (p.Thr207Ile)
NM_006440.5(TXNRD2):c.65T>G (p.Val22Gly)
NM_006440.5(TXNRD2):c.664T>C (p.Leu222=)
NM_006440.5(TXNRD2):c.670G>T (p.Val224Phe)
NM_006440.5(TXNRD2):c.682+5C>G
NM_006440.5(TXNRD2):c.683-2A>C
NM_006440.5(TXNRD2):c.697T>A (p.Cys233Ser)
NM_006440.5(TXNRD2):c.704G>A (p.Gly235Asp)
NM_006440.5(TXNRD2):c.706T>C (p.Phe236Leu)
NM_006440.5(TXNRD2):c.709C>T (p.Leu237Phe)
NM_006440.5(TXNRD2):c.70_76dup (p.Val26fs)
NM_006440.5(TXNRD2):c.739ATG[1] (p.Met248del)
NM_006440.5(TXNRD2):c.73G>T (p.Gly25Trp)
NM_006440.5(TXNRD2):c.748A>G (p.Ser250Gly)
NM_006440.5(TXNRD2):c.751A>C (p.Ile251Leu)
NM_006440.5(TXNRD2):c.754C>A (p.Pro252Thr)
NM_006440.5(TXNRD2):c.763G>A (p.Gly255Ser) rs76079250
NM_006440.5(TXNRD2):c.769G>A (p.Asp257Asn)
NM_006440.5(TXNRD2):c.77T>C (p.Val26Ala) rs925920723
NM_006440.5(TXNRD2):c.77_83dup (p.Ala30fs) rs1162449700
NM_006440.5(TXNRD2):c.799C>G (p.His267Asp)
NM_006440.5(TXNRD2):c.806C>T (p.Ala269Val)
NM_006440.5(TXNRD2):c.812A>G (p.His271Arg)
NM_006440.5(TXNRD2):c.83G>T (p.Gly28Val)
NM_006440.5(TXNRD2):c.87_98del (p.27RGAA[1]) rs766448975
NM_006440.5(TXNRD2):c.87_98dup (p.27RGAA[3]) rs766448975
NM_006440.5(TXNRD2):c.895A>T (p.Ser299Cys)
NM_006440.5(TXNRD2):c.90_101dup (p.27_30RGAA[3]) rs1008629337
NM_006440.5(TXNRD2):c.917C>G (p.Thr306Arg)
NM_006440.5(TXNRD2):c.928G>A (p.Asp310Asn)
NM_006440.5(TXNRD2):c.941G>A (p.Trp314Ter)
NM_006440.5(TXNRD2):c.955G>A (p.Val319Ile)
NM_006440.5(TXNRD2):c.958C>T (p.Pro320Ser) rs1938879786
NM_006440.5(TXNRD2):c.965C>T (p.Thr322Ile)
NM_006446.5(SLCO1B1):c.496T>C (p.Ser166Pro)
NM_006514.4(SCN10A):c.1027G>T (p.Ala343Ser)
NM_006514.4(SCN10A):c.1033G>T (p.Ala345Ser)
NM_006514.4(SCN10A):c.1039C>G (p.Leu347Val)
NM_006514.4(SCN10A):c.1052G>A (p.Arg351His) rs767987787
NM_006514.4(SCN10A):c.1052G>T (p.Arg351Leu)
NM_006514.4(SCN10A):c.1066G>A (p.Asp356Asn)
NM_006514.4(SCN10A):c.1096C>A (p.Leu366Met) rs2126028404
NM_006514.4(SCN10A):c.1120A>G (p.Met374Val)
NM_006514.4(SCN10A):c.1130T>C (p.Phe377Ser)
NM_006514.4(SCN10A):c.115G>A (p.Glu39Lys)
NM_006514.4(SCN10A):c.1165G>A (p.Val389Ile)
NM_006514.4(SCN10A):c.1172T>C (p.Leu391Ser)
NM_006514.4(SCN10A):c.1173G>T (p.Leu391Phe)
NM_006514.4(SCN10A):c.1175_1189del (p.Ile392_Val396del)
NM_006514.4(SCN10A):c.1192A>T (p.Met398Leu)
NM_006514.4(SCN10A):c.11C>G (p.Pro4Arg)
NM_006514.4(SCN10A):c.1205A>C (p.Glu402Ala)
NM_006514.4(SCN10A):c.1212C>A (p.Asn404Lys)
NM_006514.4(SCN10A):c.1231A>G (p.Ile411Val)
NM_006514.4(SCN10A):c.123T>G (p.His41Gln)
NM_006514.4(SCN10A):c.1250A>T (p.Lys417Met)
NM_006514.4(SCN10A):c.1284_1286delinsACG (p.Gln429Arg)
NM_006514.4(SCN10A):c.1288G>A (p.Glu430Lys)
NM_006514.4(SCN10A):c.1291G>T (p.Val431Leu)
NM_006514.4(SCN10A):c.1309A>C (p.Ile437Leu)
NM_006514.4(SCN10A):c.130C>A (p.Gln44Lys)
NM_006514.4(SCN10A):c.1312G>A (p.Asp438Asn)
NM_006514.4(SCN10A):c.1362T>G (p.Asn454Lys)
NM_006514.4(SCN10A):c.1364C>A (p.Ala455Asp) rs1039004616
NM_006514.4(SCN10A):c.1397T>A (p.Val466Glu)
NM_006514.4(SCN10A):c.1399T>C (p.Ser467Pro)
NM_006514.4(SCN10A):c.139C>T (p.Gln47Ter)
NM_006514.4(SCN10A):c.1402G>A (p.Glu468Lys)
NM_006514.4(SCN10A):c.1405G>A (p.Gly469Ser)
NM_006514.4(SCN10A):c.1419C>A (p.Asp473Glu)
NM_006514.4(SCN10A):c.142G>A (p.Glu48Lys)
NM_006514.4(SCN10A):c.1433G>T (p.Arg478Leu)
NM_006514.4(SCN10A):c.1442C>G (p.Pro481Arg)
NM_006514.4(SCN10A):c.1465T>C (p.Phe489Leu)
NM_006514.4(SCN10A):c.1490G>A (p.Arg497His)
NM_006514.4(SCN10A):c.151C>G (p.Pro51Ala) rs368312678
NM_006514.4(SCN10A):c.1531G>A (p.Gly511Ser)
NM_006514.4(SCN10A):c.1549C>T (p.Pro517Ser)
NM_006514.4(SCN10A):c.154C>T (p.Arg52Trp)
NM_006514.4(SCN10A):c.155G>A (p.Arg52Gln)
NM_006514.4(SCN10A):c.1570G>A (p.Gly524Arg)
NM_006514.4(SCN10A):c.158C>G (p.Pro53Arg) rs752235456
NM_006514.4(SCN10A):c.158C>T (p.Pro53Leu)
NM_006514.4(SCN10A):c.1595G>A (p.Ser532Asn)
NM_006514.4(SCN10A):c.1603G>C (p.Gly535Arg)
NM_006514.4(SCN10A):c.1618G>A (p.Gly540Ser)
NM_006514.4(SCN10A):c.1621G>A (p.Gly541Arg) rs1315864029
NM_006514.4(SCN10A):c.1628del (p.Ala543fs)
NM_006514.4(SCN10A):c.1631G>A (p.Gly544Asp)
NM_006514.4(SCN10A):c.1663C>T (p.Pro555Ser)
NM_006514.4(SCN10A):c.1666C>T (p.Gln556Ter)
NM_006514.4(SCN10A):c.1667A>T (p.Gln556Leu) rs1423285355
NM_006514.4(SCN10A):c.1708C>A (p.Gln570Lys)
NM_006514.4(SCN10A):c.1712C>A (p.Pro571Gln)
NM_006514.4(SCN10A):c.1723A>G (p.Ser575Gly)
NM_006514.4(SCN10A):c.1733C>A (p.Ala578Asp)
NM_006514.4(SCN10A):c.1737del (p.Gly580fs)
NM_006514.4(SCN10A):c.1755G>A (p.Ser585=)
NM_006514.4(SCN10A):c.1766C>T (p.Ala589Val)
NM_006514.4(SCN10A):c.1773A>T (p.Gln591His)
NM_006514.4(SCN10A):c.1800C>G (p.Tyr600Ter)
NM_006514.4(SCN10A):c.1811C>A (p.Pro604His)
NM_006514.4(SCN10A):c.1817G>C (p.Arg606Pro) rs367548480
NM_006514.4(SCN10A):c.1819G>A (p.Ala607Thr) rs139355449
NM_006514.4(SCN10A):c.1819G>T (p.Ala607Ser) rs139355449
NM_006514.4(SCN10A):c.1820C>A (p.Ala607Asp)
NM_006514.4(SCN10A):c.1867+5G>A
NM_006514.4(SCN10A):c.1898C>T (p.Pro633Leu)
NM_006514.4(SCN10A):c.196T>C (p.Phe66Leu)
NM_006514.4(SCN10A):c.1977T>G (p.Phe659Leu) rs1346592471
NM_006514.4(SCN10A):c.1981C>T (p.Leu661Phe)
NM_006514.4(SCN10A):c.1988C>T (p.Thr663Met)
NM_006514.4(SCN10A):c.2011_2016del (p.Ile671_Thr672del)
NM_006514.4(SCN10A):c.2023A>C (p.Ile675Leu)
NM_006514.4(SCN10A):c.2029G>C (p.Val677Leu)
NM_006514.4(SCN10A):c.2056C>T (p.His686Tyr)
NM_006514.4(SCN10A):c.2061T>A (p.His687Gln)
NM_006514.4(SCN10A):c.2102del (p.Asn701fs)
NM_006514.4(SCN10A):c.2114C>G (p.Thr705Ser)
NM_006514.4(SCN10A):c.2130T>A (p.Ala710=) rs778052433
NM_006514.4(SCN10A):c.2134A>G (p.Met712Val)
NM_006514.4(SCN10A):c.2135T>C (p.Met712Thr)
NM_006514.4(SCN10A):c.2162C>T (p.Pro721Leu)
NM_006514.4(SCN10A):c.2166C>G (p.Tyr722Ter)
NM_006514.4(SCN10A):c.221T>C (p.Leu74Pro)
NM_006514.4(SCN10A):c.224T>C (p.Ile75Thr) rs1200209497
NM_006514.4(SCN10A):c.2280+3A>G
NM_006514.4(SCN10A):c.2280+5T>C
NM_006514.4(SCN10A):c.2284C>A (p.Arg762Ser) rs577819850
NM_006514.4(SCN10A):c.2284C>T (p.Arg762Cys)
NM_006514.4(SCN10A):c.229G>A (p.Glu77Lys)
NM_006514.4(SCN10A):c.229dup (p.Glu77fs)
NM_006514.4(SCN10A):c.2311C>G (p.Pro771Ala) rs2063486138
NM_006514.4(SCN10A):c.232C>G (p.Pro78Ala)
NM_006514.4(SCN10A):c.2334G>C (p.Lys778Asn)
NM_006514.4(SCN10A):c.238G>T (p.Glu80Ter)
NM_006514.4(SCN10A):c.2390T>C (p.Ile797Thr)
NM_006514.4(SCN10A):c.2393T>C (p.Val798Ala)
NM_006514.4(SCN10A):c.2408T>G (p.Leu803Arg)
NM_006514.4(SCN10A):c.2440C>T (p.Arg814Cys)
NM_006514.4(SCN10A):c.2442dup (p.Asn815Ter) rs1447743812
NM_006514.4(SCN10A):c.2445C>A (p.Asn815Lys)
NM_006514.4(SCN10A):c.2447A>G (p.Asn816Ser)
NM_006514.4(SCN10A):c.2476G>T (p.Asp826Tyr) rs199535863
NM_006514.4(SCN10A):c.2477A>G (p.Asp826Gly)
NM_006514.4(SCN10A):c.2490G>A (p.Trp830Ter)
NM_006514.4(SCN10A):c.2521A>T (p.Ile841Phe)
NM_006514.4(SCN10A):c.2524G>A (p.Val842Ile)
NM_006514.4(SCN10A):c.2531G>A (p.Arg844His)
NM_006514.4(SCN10A):c.2551A>G (p.Ile851Val)
NM_006514.4(SCN10A):c.2572A>G (p.Met858Val)
NM_006514.4(SCN10A):c.2592del (p.Ile865fs)
NM_006514.4(SCN10A):c.2593A>G (p.Ile865Val) rs1553617020
NM_006514.4(SCN10A):c.2594T>C (p.Ile865Thr)
NM_006514.4(SCN10A):c.260G>A (p.Ser87Asn)
NM_006514.4(SCN10A):c.2622G>C (p.Met874Ile)
NM_006514.4(SCN10A):c.263C>G (p.Thr88Arg)
NM_006514.4(SCN10A):c.2640+5G>C
NM_006514.4(SCN10A):c.2650C>G (p.Leu884Val)
NM_006514.4(SCN10A):c.2656A>G (p.Ile886Val) rs2063465062
NM_006514.4(SCN10A):c.2677_2678del (p.Phe893fs) rs770504391
NM_006514.4(SCN10A):c.2687A>G (p.Asp896Gly)
NM_006514.4(SCN10A):c.269G>A (p.Arg90Gln)
NM_006514.4(SCN10A):c.271-2A>G
NM_006514.4(SCN10A):c.2738C>A (p.Ala913Asp)
NM_006514.4(SCN10A):c.2762G>A (p.Gly921Asp)
NM_006514.4(SCN10A):c.2764C>G (p.His922Asp)
NM_006514.4(SCN10A):c.2768G>T (p.Arg923Leu)
NM_006514.4(SCN10A):c.2770A>G (p.Thr924Ala)
NM_006514.4(SCN10A):c.2773A>G (p.Lys925Glu)
NM_006514.4(SCN10A):c.2779G>C (p.Ala927Pro)
NM_006514.4(SCN10A):c.2789G>A (p.Ser930Asn)
NM_006514.4(SCN10A):c.2804C>T (p.Ser935Phe)
NM_006514.4(SCN10A):c.2830G>A (p.Glu944Lys)
NM_006514.4(SCN10A):c.2842G>A (p.Val948Met) rs145694222
NM_006514.4(SCN10A):c.2854C>T (p.Pro952Ser)
NM_006514.4(SCN10A):c.2863A>T (p.Ser955Cys) rs1674245596
NM_006514.4(SCN10A):c.2882A>T (p.His961Leu)
NM_006514.4(SCN10A):c.2918G>A (p.Gly973Glu)
NM_006514.4(SCN10A):c.292G>A (p.Gly98Arg)
NM_006514.4(SCN10A):c.2945A>G (p.Asp982Gly)
NM_006514.4(SCN10A):c.2947G>A (p.Glu983Lys)
NM_006514.4(SCN10A):c.2947G>C (p.Glu983Gln)
NM_006514.4(SCN10A):c.3009A>G (p.Glu1003=)
NM_006514.4(SCN10A):c.3038G>A (p.Gly1013Asp) rs1228092020
NM_006514.4(SCN10A):c.303T>G (p.Ile101Met)
NM_006514.4(SCN10A):c.3041G>A (p.Gly1014Glu)
NM_006514.4(SCN10A):c.3056G>A (p.Ser1019Asn)
NM_006514.4(SCN10A):c.305C>G (p.Ser102Cys) rs866597161
NM_006514.4(SCN10A):c.3062A>G (p.Gln1021Arg)
NM_006514.4(SCN10A):c.3067G>A (p.Glu1023Lys)
NM_006514.4(SCN10A):c.3091G>A (p.Glu1031Lys)
NM_006514.4(SCN10A):c.3094C>T (p.Gln1032Ter)
NM_006514.4(SCN10A):c.3095del (p.Gln1032fs)
NM_006514.4(SCN10A):c.3109G>A (p.Glu1037Lys)
NM_006514.4(SCN10A):c.3118_3130delinsCCAGGCACTGGAACATCTTCTGAG (p.Gly1040fs) rs2126000030
NM_006514.4(SCN10A):c.3130_3131insG (p.Thr1044fs)
NM_006514.4(SCN10A):c.3134C>T (p.Pro1045Leu)
NM_006514.4(SCN10A):c.3139A>G (p.Ser1047Gly)
NM_006514.4(SCN10A):c.3214C>G (p.Gln1072Glu)
NM_006514.4(SCN10A):c.3220C>T (p.Pro1074Ser)
NM_006514.4(SCN10A):c.3226G>C (p.Glu1076Gln)
NM_006514.4(SCN10A):c.3229-5T>C
NM_006514.4(SCN10A):c.3233T>C (p.Val1078Ala)
NM_006514.4(SCN10A):c.323G>T (p.Arg108Leu)
NM_006514.4(SCN10A):c.32A>G (p.Asn11Ser)
NM_006514.4(SCN10A):c.3335A>T (p.Asp1112Val)
NM_006514.4(SCN10A):c.334C>G (p.Leu112Val)
NM_006514.4(SCN10A):c.3356G>C (p.Cys1119Ser)
NM_006514.4(SCN10A):c.3362G>A (p.Arg1121His)
NM_006514.4(SCN10A):c.3371C>T (p.Pro1124Leu)
NM_006514.4(SCN10A):c.3388A>G (p.Thr1130Ala)
NM_006514.4(SCN10A):c.3389CCA[1] (p.Thr1131del)
NM_006514.4(SCN10A):c.3405G>A (p.Trp1135Ter)
NM_006514.4(SCN10A):c.3410T>A (p.Val1137Glu)
NM_006514.4(SCN10A):c.3420G>T (p.Gln1140His)
NM_006514.4(SCN10A):c.3422T>G (p.Val1141Gly)
NM_006514.4(SCN10A):c.3424C>T (p.Arg1142Cys)
NM_006514.4(SCN10A):c.344C>T (p.Pro115Leu) rs760579685
NM_006514.4(SCN10A):c.3488T>C (p.Leu1163Pro)
NM_006514.4(SCN10A):c.3493A>G (p.Ser1165Gly)
NM_006514.4(SCN10A):c.352C>G (p.Leu118Val)
NM_006514.4(SCN10A):c.3541A>G (p.Thr1181Ala)
NM_006514.4(SCN10A):c.3574G>C (p.Val1192Leu)
NM_006514.4(SCN10A):c.3576C>A (p.Val1192=)
NM_006514.4(SCN10A):c.3632A>G (p.Lys1211Arg)
NM_006514.4(SCN10A):c.3644C>T (p.Thr1215Ile)
NM_006514.4(SCN10A):c.3673A>C (p.Ile1225Leu)
NM_006514.4(SCN10A):c.3682-3C>T
NM_006514.4(SCN10A):c.3691A>G (p.Ile1231Val) rs775185585
NM_006514.4(SCN10A):c.3696T>A (p.Ser1232Arg)
NM_006514.4(SCN10A):c.3703G>A (p.Ala1235Thr)
NM_006514.4(SCN10A):c.3703G>T (p.Ala1235Ser)
NM_006514.4(SCN10A):c.3704C>A (p.Ala1235Glu) rs765984332
NM_006514.4(SCN10A):c.3754C>T (p.Leu1252Phe)
NM_006514.4(SCN10A):c.3757C>A (p.Arg1253Ser)
NM_006514.4(SCN10A):c.3757C>T (p.Arg1253Cys) rs145909172
NM_006514.4(SCN10A):c.375A>C (p.Lys125Asn)
NM_006514.4(SCN10A):c.3761C>G (p.Ala1254Gly)
NM_006514.4(SCN10A):c.3775C>T (p.Arg1259Trp) rs765230695
NM_006514.4(SCN10A):c.3781_3782del (p.Leu1261fs)
NM_006514.4(SCN10A):c.3785C>T (p.Ser1262Phe)
NM_006514.4(SCN10A):c.3788G>A (p.Arg1263Gln)
NM_006514.4(SCN10A):c.3788G>T (p.Arg1263Leu)
NM_006514.4(SCN10A):c.3791T>C (p.Phe1264Ser)
NM_006514.4(SCN10A):c.3799A>T (p.Met1267Leu)
NM_006514.4(SCN10A):c.3800T>G (p.Met1267Arg) rs774337248
NM_006514.4(SCN10A):c.3804+2T>C
NM_006514.4(SCN10A):c.3805-2A>G
NM_006514.4(SCN10A):c.3805-6C>T
NM_006514.4(SCN10A):c.3811G>A (p.Val1271Met)
NM_006514.4(SCN10A):c.3814G>A (p.Asp1272Asn)
NM_006514.4(SCN10A):c.3824T>C (p.Val1275Ala)
NM_006514.4(SCN10A):c.3844A>G (p.Met1282Val)
NM_006514.4(SCN10A):c.3844A>T (p.Met1282Leu) rs1006794198
NM_006514.4(SCN10A):c.3864C>G (p.Cys1288Trp)
NM_006514.4(SCN10A):c.3884T>C (p.Phe1295Ser)
NM_006514.4(SCN10A):c.3895G>A (p.Gly1299Ser)
NM_006514.4(SCN10A):c.3896G>T (p.Gly1299Val) rs2125989927
NM_006514.4(SCN10A):c.38T>A (p.Phe13Tyr)
NM_006514.4(SCN10A):c.3910G>T (p.Ala1304Ser)
NM_006514.4(SCN10A):c.3958C>T (p.Leu1320Phe) rs373466551
NM_006514.4(SCN10A):c.3961_3966del (p.Val1321_Pro1322del)
NM_006514.4(SCN10A):c.3964C>T (p.Pro1322Ser)
NM_006514.4(SCN10A):c.400T>G (p.Leu134Val)
NM_006514.4(SCN10A):c.4030G>A (p.Val1344Ile) rs752648254
NM_006514.4(SCN10A):c.4034A>G (p.Asn1345Ser)
NM_006514.4(SCN10A):c.4076C>T (p.Ala1359Val)
NM_006514.4(SCN10A):c.4089+3G>A
NM_006514.4(SCN10A):c.4093A>G (p.Thr1365Ala) rs1350489552
NM_006514.4(SCN10A):c.4094C>A (p.Thr1365Asn) rs748854017
NM_006514.4(SCN10A):c.4100_4101del (p.Lys1367fs) rs1369457221
NM_006514.4(SCN10A):c.4110G>A (p.Met1370Ile)
NM_006514.4(SCN10A):c.4124C>T (p.Ala1375Val)
NM_006514.4(SCN10A):c.4127C>T (p.Ala1376Val)
NM_006514.4(SCN10A):c.4144-3C>A
NM_006514.4(SCN10A):c.4151T>C (p.Met1384Thr)
NM_006514.4(SCN10A):c.4182G>A (p.Met1394Ile)
NM_006514.4(SCN10A):c.4217G>C (p.Gly1406Ala)
NM_006514.4(SCN10A):c.4229T>C (p.Leu1410Pro)
NM_006514.4(SCN10A):c.4247T>G (p.Val1416Gly)
NM_006514.4(SCN10A):c.4273A>G (p.Lys1425Glu)
NM_006514.4(SCN10A):c.4281+1A>G
NM_006514.4(SCN10A):c.4300_4306del (p.Phe1434fs)
NM_006514.4(SCN10A):c.4303A>C (p.Met1435Leu)
NM_006514.4(SCN10A):c.4312G>A (p.Glu1438Lys)
NM_006514.4(SCN10A):c.4349G>A (p.Gly1450Asp)
NM_006514.4(SCN10A):c.4359G>T (p.Lys1453Asn)
NM_006514.4(SCN10A):c.4376C>A (p.Pro1459Gln)
NM_006514.4(SCN10A):c.4386+4A>T
NM_006514.4(SCN10A):c.4386G>A (p.Leu1462=) rs1306366227
NM_006514.4(SCN10A):c.4389C>A (p.Asn1463Lys)
NM_006514.4(SCN10A):c.4415T>C (p.Ile1472Thr) rs1286314604
NM_006514.4(SCN10A):c.4450G>A (p.Val1484Ile)
NM_006514.4(SCN10A):c.4450G>T (p.Val1484Phe)
NM_006514.4(SCN10A):c.4472T>G (p.Ile1491Ser)
NM_006514.4(SCN10A):c.4477A>G (p.Met1493Val)
NM_006514.4(SCN10A):c.4486G>A (p.Glu1496Lys)
NM_006514.4(SCN10A):c.44G>A (p.Arg15His)
NM_006514.4(SCN10A):c.44G>C (p.Arg15Pro)
NM_006514.4(SCN10A):c.4512G>C (p.Lys1504Asn)
NM_006514.4(SCN10A):c.4513A>G (p.Thr1505Ala)
NM_006514.4(SCN10A):c.4540T>G (p.Phe1514Val)
NM_006514.4(SCN10A):c.4583T>C (p.Phe1528Ser)
NM_006514.4(SCN10A):c.4586C>G (p.Ala1529Gly)
NM_006514.4(SCN10A):c.4602C>A (p.Tyr1534Ter)
NM_006514.4(SCN10A):c.4612G>A (p.Gly1538Ser)
NM_006514.4(SCN10A):c.4709C>A (p.Thr1570Lys) rs772484960
NM_006514.4(SCN10A):c.4716C>G (p.Phe1572Leu)
NM_006514.4(SCN10A):c.4720G>T (p.Val1574Phe)
NM_006514.4(SCN10A):c.4735C>T (p.Arg1579Ter)
NM_006514.4(SCN10A):c.474T>G (p.Tyr158Ter)
NM_006514.4(SCN10A):c.4766C>A (p.Ala1589Glu) rs753004431
NM_006514.4(SCN10A):c.4775_4776dup (p.Ile1593fs) rs1191414961
NM_006514.4(SCN10A):c.47T>C (p.Phe16Ser)
NM_006514.4(SCN10A):c.4810del (p.Leu1604fs)
NM_006514.4(SCN10A):c.4828A>G (p.Ile1610Val)
NM_006514.4(SCN10A):c.4845C>G (p.Phe1615Leu)
NM_006514.4(SCN10A):c.485T>C (p.Val162Ala)
NM_006514.4(SCN10A):c.4884C>A (p.Ser1628Arg)
NM_006514.4(SCN10A):c.4918G>A (p.Asp1640Asn)
NM_006514.4(SCN10A):c.4921A>G (p.Met1641Val)
NM_006514.4(SCN10A):c.4932C>G (p.Phe1644Leu) rs2063118583
NM_006514.4(SCN10A):c.4937C>A (p.Thr1646Asn) rs2063118515
NM_006514.4(SCN10A):c.4941C>T (p.Phe1647=)
NM_006514.4(SCN10A):c.4942G>A (p.Ala1648Thr)
NM_006514.4(SCN10A):c.4943C>T (p.Ala1648Val)
NM_006514.4(SCN10A):c.494C>A (p.Thr165Asn)
NM_006514.4(SCN10A):c.495C>T (p.Thr165=)
NM_006514.4(SCN10A):c.5005C>G (p.Pro1669Ala)
NM_006514.4(SCN10A):c.5024C>G (p.Pro1675Arg)
NM_006514.4(SCN10A):c.5030A>T (p.Tyr1677Phe)
NM_006514.4(SCN10A):c.5038C>T (p.Pro1680Ser)
NM_006514.4(SCN10A):c.503C>G (p.Ala168Gly)
NM_006514.4(SCN10A):c.503C>T (p.Ala168Val) rs558639346
NM_006514.4(SCN10A):c.5052C>G (p.Asn1684Lys)
NM_006514.4(SCN10A):c.506T>C (p.Leu169Ser)
NM_006514.4(SCN10A):c.5090T>C (p.Val1697Ala)
NM_006514.4(SCN10A):c.5108_5109insAACCTACATCATCATCTCCAC (p.Ser1709_Phe1710insThrThrTyrIleIleIleSer)
NM_006514.4(SCN10A):c.5119A>T (p.Ile1707Phe)
NM_006514.4(SCN10A):c.5125T>C (p.Ser1709Pro)
NM_006514.4(SCN10A):c.5131C>T (p.Leu1711Phe) rs2063114690
NM_006514.4(SCN10A):c.5149T>C (p.Tyr1717His)
NM_006514.4(SCN10A):c.5153T>C (p.Ile1718Thr)
NM_006514.4(SCN10A):c.5204C>T (p.Pro1735Leu)
NM_006514.4(SCN10A):c.5216A>T (p.Asp1739Val)
NM_006514.4(SCN10A):c.5239A>G (p.Thr1747Ala)
NM_006514.4(SCN10A):c.524G>A (p.Arg175Lys)
NM_006514.4(SCN10A):c.5254G>A (p.Asp1752Asn)
NM_006514.4(SCN10A):c.5257C>T (p.Pro1753Ser)
NM_006514.4(SCN10A):c.527G>A (p.Gly176Glu)
NM_006514.4(SCN10A):c.5281T>A (p.Phe1761Ile)
NM_006514.4(SCN10A):c.5284T>C (p.Ser1762Pro)
NM_006514.4(SCN10A):c.5290C>T (p.Leu1764Phe)
NM_006514.4(SCN10A):c.5329del (p.Ile1777fs)
NM_006514.4(SCN10A):c.5332C>T (p.Pro1778Ser)
NM_006514.4(SCN10A):c.5337del (p.Lys1779fs)
NM_006514.4(SCN10A):c.5387A>G (p.Asp1796Gly)
NM_006514.4(SCN10A):c.53C>G (p.Pro18Arg)
NM_006514.4(SCN10A):c.5417C>T (p.Ala1806Val)
NM_006514.4(SCN10A):c.541G>A (p.Glu181Lys)
NM_006514.4(SCN10A):c.542A>G (p.Glu181Gly)
NM_006514.4(SCN10A):c.5437G>A (p.Gly1813Arg)
NM_006514.4(SCN10A):c.5475G>A (p.Met1825Ile)
NM_006514.4(SCN10A):c.5480A>T (p.Glu1827Val)
NM_006514.4(SCN10A):c.548C>T (p.Thr183Met)
NM_006514.4(SCN10A):c.5509T>C (p.Ser1837Pro)
NM_006514.4(SCN10A):c.5520A>C (p.Glu1840Asp)
NM_006514.4(SCN10A):c.5548C>G (p.Gln1850Glu) rs149504103
NM_006514.4(SCN10A):c.5554G>C (p.Asp1852His)
NM_006514.4(SCN10A):c.5560T>C (p.Ser1854Pro)
NM_006514.4(SCN10A):c.5563G>C (p.Ala1855Pro)
NM_006514.4(SCN10A):c.5581G>T (p.Ala1861Ser)
NM_006514.4(SCN10A):c.558A>C (p.Arg186Ser)
NM_006514.4(SCN10A):c.5594A>C (p.Tyr1865Ser)
NM_006514.4(SCN10A):c.5594A>G (p.Tyr1865Cys) rs377518708
NM_006514.4(SCN10A):c.5611A>G (p.Met1871Val)
NM_006514.4(SCN10A):c.562C>T (p.Pro188Ser)
NM_006514.4(SCN10A):c.5671G>T (p.Asp1891Tyr) rs2063103684
NM_006514.4(SCN10A):c.5683G>T (p.Val1895Phe)
NM_006514.4(SCN10A):c.5711T>C (p.Val1904Ala)
NM_006514.4(SCN10A):c.5732C>G (p.Thr1911Ser)
NM_006514.4(SCN10A):c.5774C>T (p.Thr1925Ile)
NM_006514.4(SCN10A):c.5779G>A (p.Gly1927Ser)
NM_006514.4(SCN10A):c.5804G>A (p.Arg1935Lys)
NM_006514.4(SCN10A):c.5809T>C (p.Ser1937Pro)
NM_006514.4(SCN10A):c.5858C>G (p.Ala1953Gly)
NM_006514.4(SCN10A):c.5858C>T (p.Ala1953Val) rs770070419
NM_006514.4(SCN10A):c.602A>G (p.Tyr201Cys)
NM_006514.4(SCN10A):c.625C>T (p.Arg209Cys)
NM_006514.4(SCN10A):c.629G>T (p.Gly210Val)
NM_006514.4(SCN10A):c.656T>C (p.Val219Ala)
NM_006514.4(SCN10A):c.670A>G (p.Lys224Glu)
NM_006514.4(SCN10A):c.688C>T (p.Pro230Ser)
NM_006514.4(SCN10A):c.697A>G (p.Lys233Glu)
NM_006514.4(SCN10A):c.70A>T (p.Ile24Leu)
NM_006514.4(SCN10A):c.73G>A (p.Glu25Lys)
NM_006514.4(SCN10A):c.761T>C (p.Ile254Thr)
NM_006514.4(SCN10A):c.767G>C (p.Cys256Ser)
NM_006514.4(SCN10A):c.793C>A (p.Leu265Met)
NM_006514.4(SCN10A):c.795_807delinsCTTCAA (p.Gln266fs)
NM_006514.4(SCN10A):c.807_818del (p.Gly270_Lys273del)
NM_006514.4(SCN10A):c.842T>G (p.Met281Arg)
NM_006514.4(SCN10A):c.857C>G (p.Thr286Arg)
NM_006514.4(SCN10A):c.860C>G (p.Thr287Ser) rs779570073
NM_006514.4(SCN10A):c.869C>T (p.Ser290Leu)
NM_006514.4(SCN10A):c.883+5G>A
NM_006514.4(SCN10A):c.884-3C>G
NM_006514.4(SCN10A):c.890T>G (p.Ile297Ser) rs553913580
NM_006514.4(SCN10A):c.904C>T (p.Arg302Ter)
NM_006514.4(SCN10A):c.928T>G (p.Cys310Gly)
NM_006514.4(SCN10A):c.929G>A (p.Cys310Tyr)
NM_006514.4(SCN10A):c.932G>T (p.Gly311Val)
NM_006514.4(SCN10A):c.935A>G (p.Asn312Ser)
NM_006514.4(SCN10A):c.94C>A (p.Gln32Lys)
NM_006514.4(SCN10A):c.950+4A>G
NM_006514.4(SCN10A):c.952C>T (p.His318Tyr)
NM_006514.4(SCN10A):c.965G>A (p.Gly322Asp)
NM_006514.4(SCN10A):c.965G>T (p.Gly322Val)
NM_006514.4(SCN10A):c.995C>T (p.Pro332Leu)
NM_006888.6(CALM1):c.179-3G>A
NM_006888.6(CALM1):c.260G>A (p.Arg87His)
NM_006888.6(CALM1):c.392T>C (p.Ile131Thr)
NM_006888.6(CALM1):c.4-3T>C
NM_006888.6(CALM1):c.62A>G (p.Asp21Gly)
NM_006912.6(RIT1):c.113C>T (p.Thr38Ile)
NM_006912.6(RIT1):c.115A>G (p.Met39Val)
NM_006912.6(RIT1):c.173A>G (p.Tyr58Cys)
NM_006912.6(RIT1):c.22G>T (p.Val8Phe)
NM_006912.6(RIT1):c.259G>A (p.Asp87Asn)
NM_006912.6(RIT1):c.289A>C (p.Ile97Leu)
NM_006912.6(RIT1):c.356A>G (p.Tyr119Cys)
NM_006912.6(RIT1):c.359G>A (p.Arg120Gln)
NM_006912.6(RIT1):c.359G>T (p.Arg120Leu)
NM_006912.6(RIT1):c.373G>A (p.Asp125Asn)
NM_006912.6(RIT1):c.385G>A (p.Val129Met)
NM_006912.6(RIT1):c.41G>A (p.Ser14Asn)
NM_006912.6(RIT1):c.41G>T (p.Ser14Ile)
NM_006912.6(RIT1):c.532C>G (p.Leu178Val) rs730881013
NM_006912.6(RIT1):c.535G>A (p.Val179Ile)
NM_006912.6(RIT1):c.538C>T (p.Arg180Trp)
NM_006912.6(RIT1):c.559A>C (p.Lys187Gln)
NM_006912.6(RIT1):c.588A>C (p.Lys196Asn)
NM_006912.6(RIT1):c.615G>T (p.Lys205Asn)
NM_006939.4(SOS2):c.1049A>G (p.His350Arg)
NM_006939.4(SOS2):c.110C>T (p.Thr37Ile)
NM_006939.4(SOS2):c.1171C>G (p.Gln391Glu)
NM_006939.4(SOS2):c.1187G>A (p.Arg396His)
NM_006939.4(SOS2):c.1189C>G (p.Arg397Gly) rs777771444
NM_006939.4(SOS2):c.1192C>G (p.Pro398Ala)
NM_006939.4(SOS2):c.122A>G (p.Asn41Ser)
NM_006939.4(SOS2):c.1249A>T (p.Ile417Phe)
NM_006939.4(SOS2):c.1295G>T (p.Gly432Val)
NM_006939.4(SOS2):c.1320T>A (p.Asn440Lys) rs1884941722
NM_006939.4(SOS2):c.1327A>C (p.Ile443Leu)
NM_006939.4(SOS2):c.1334A>C (p.Glu445Ala)
NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)
NM_006939.4(SOS2):c.1369C>T (p.Arg457Trp)
NM_006939.4(SOS2):c.1472A>G (p.Lys491Arg)
NM_006939.4(SOS2):c.1507G>A (p.Glu503Lys)
NM_006939.4(SOS2):c.1523A>G (p.His508Arg)
NM_006939.4(SOS2):c.1582T>A (p.Ser528Thr)
NM_006939.4(SOS2):c.1594A>G (p.Lys532Glu)
NM_006939.4(SOS2):c.1597A>C (p.Asn533His)
NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser) rs748632850
NM_006939.4(SOS2):c.1612G>A (p.Ala538Thr)
NM_006939.4(SOS2):c.1634G>A (p.Arg545His)
NM_006939.4(SOS2):c.1642C>A (p.Leu548Ile)
NM_006939.4(SOS2):c.1673A>G (p.Lys558Arg)
NM_006939.4(SOS2):c.1705A>G (p.Ser569Gly)
NM_006939.4(SOS2):c.1727T>G (p.Val576Gly)
NM_006939.4(SOS2):c.1737C>G (p.Asp579Glu)
NM_006939.4(SOS2):c.181A>C (p.Met61Leu)
NM_006939.4(SOS2):c.181A>G (p.Met61Val) rs774761716
NM_006939.4(SOS2):c.1961C>T (p.Thr654Ile)
NM_006939.4(SOS2):c.1964A>G (p.Asp655Gly)
NM_006939.4(SOS2):c.1979C>G (p.Ala660Gly)
NM_006939.4(SOS2):c.1983A>G (p.Ile661Met)
NM_006939.4(SOS2):c.2027G>A (p.Arg676His)
NM_006939.4(SOS2):c.2065A>C (p.Asn689His)
NM_006939.4(SOS2):c.2166A>T (p.Lys722Asn) rs769787486
NM_006939.4(SOS2):c.2204T>A (p.Ile735Asn)
NM_006939.4(SOS2):c.2217G>T (p.Lys739Asn) rs186110427
NM_006939.4(SOS2):c.2233G>A (p.Gly745Arg)
NM_006939.4(SOS2):c.2243A>G (p.His748Arg)
NM_006939.4(SOS2):c.2277T>G (p.Ile759Met)
NM_006939.4(SOS2):c.2323A>G (p.Met775Val)
NM_006939.4(SOS2):c.2329C>T (p.Leu777Phe) rs151074097
NM_006939.4(SOS2):c.2345T>C (p.Ile782Thr)
NM_006939.4(SOS2):c.2351G>A (p.Arg784His)
NM_006939.4(SOS2):c.238C>T (p.His80Tyr)
NM_006939.4(SOS2):c.2441T>G (p.Ile814Arg)
NM_006939.4(SOS2):c.2675A>C (p.Gln892Pro)
NM_006939.4(SOS2):c.2677G>A (p.Glu893Lys)
NM_006939.4(SOS2):c.2741T>A (p.Leu914Gln)
NM_006939.4(SOS2):c.2762A>G (p.Asn921Ser)
NM_006939.4(SOS2):c.282A>G (p.Ile94Met)
NM_006939.4(SOS2):c.2932T>A (p.Cys978Ser)
NM_006939.4(SOS2):c.2939G>A (p.Arg980Gln) rs2139550610
NM_006939.4(SOS2):c.2983A>G (p.Met995Val) rs933544183
NM_006939.4(SOS2):c.2986G>A (p.Gly996Arg) rs780598157
NM_006939.4(SOS2):c.305C>T (p.Pro102Leu)
NM_006939.4(SOS2):c.3064C>A (p.Pro1022Thr) rs2139528591
NM_006939.4(SOS2):c.3068C>T (p.Pro1023Leu)
NM_006939.4(SOS2):c.3128G>A (p.Gly1043Asp)
NM_006939.4(SOS2):c.3136G>T (p.Gly1046Cys)
NM_006939.4(SOS2):c.3188C>T (p.Pro1063Leu)
NM_006939.4(SOS2):c.3190T>A (p.Cys1064Ser)
NM_006939.4(SOS2):c.3190T>C (p.Cys1064Arg) rs1224696199
NM_006939.4(SOS2):c.3263C>T (p.Thr1088Ile)
NM_006939.4(SOS2):c.3271A>G (p.Thr1091Ala)
NM_006939.4(SOS2):c.32T>A (p.Phe11Tyr)
NM_006939.4(SOS2):c.3341G>A (p.Ser1114Asn)
NM_006939.4(SOS2):c.3347G>A (p.Ser1116Asn)
NM_006939.4(SOS2):c.3362T>C (p.Val1121Ala)
NM_006939.4(SOS2):c.3425A>C (p.Glu1142Ala)
NM_006939.4(SOS2):c.3427C>T (p.Pro1143Ser)
NM_006939.4(SOS2):c.3442C>T (p.Pro1148Ser)
NM_006939.4(SOS2):c.3443C>G (p.Pro1148Arg) rs1375287247
NM_006939.4(SOS2):c.3454C>G (p.Arg1152Gly)
NM_006939.4(SOS2):c.3470A>G (p.His1157Arg)
NM_006939.4(SOS2):c.3487A>G (p.Lys1163Glu)
NM_006939.4(SOS2):c.3539C>T (p.Pro1180Leu)
NM_006939.4(SOS2):c.3584C>T (p.Ala1195Val) rs753151750
NM_006939.4(SOS2):c.3613C>A (p.Pro1205Thr)
NM_006939.4(SOS2):c.3623C>G (p.Pro1208Arg)
NM_006939.4(SOS2):c.3664C>T (p.Arg1222Trp)
NM_006939.4(SOS2):c.3665G>A (p.Arg1222Gln)
NM_006939.4(SOS2):c.3678C>G (p.His1226Gln)
NM_006939.4(SOS2):c.3761C>T (p.Thr1254Met)
NM_006939.4(SOS2):c.3772T>G (p.Ser1258Ala) rs1344396759
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln) rs58365465
NM_006939.4(SOS2):c.383T>A (p.Leu128Gln)
NM_006939.4(SOS2):c.3898C>T (p.Pro1300Ser)
NM_006939.4(SOS2):c.3935G>A (p.Arg1312Gln)
NM_006939.4(SOS2):c.3939G>C (p.Glu1313Asp)
NM_006939.4(SOS2):c.40G>A (p.Glu14Lys)
NM_006939.4(SOS2):c.439A>G (p.Asn147Asp)
NM_006939.4(SOS2):c.503C>T (p.Ala168Val)
NM_006939.4(SOS2):c.511-4T>C
NM_006939.4(SOS2):c.541A>T (p.Ile181Leu)
NM_006939.4(SOS2):c.545G>T (p.Gly182Val) rs149487643
NM_006939.4(SOS2):c.550G>C (p.Val184Leu)
NM_006939.4(SOS2):c.601G>C (p.Asp201His)
NM_006939.4(SOS2):c.674G>T (p.Arg225Leu)
NM_006939.4(SOS2):c.685C>A (p.Leu229Ile)
NM_006939.4(SOS2):c.705T>G (p.Phe235Leu)
NM_006939.4(SOS2):c.70G>T (p.Val24Phe)
NM_006939.4(SOS2):c.727A>G (p.Ile243Val)
NM_006939.4(SOS2):c.764T>G (p.Val255Gly)
NM_006939.4(SOS2):c.793G>C (p.Val265Leu)
NM_006939.4(SOS2):c.83G>A (p.Arg28Gln)
NM_006939.4(SOS2):c.854C>T (p.Ala285Val)
NM_006939.4(SOS2):c.94G>A (p.Glu32Lys)
NM_006939.4(SOS2):c.998T>C (p.Val333Ala)
NM_007078.3(LDB3):c.-3A>G
NM_007078.3(LDB3):c.1045_1050dup (p.Ser349_Thr350dup) rs1276121533
NM_007078.3(LDB3):c.1088C>T (p.Pro363Leu)
NM_007078.3(LDB3):c.1094C>A (p.Ala365Asp)
NM_007078.3(LDB3):c.1097C>T (p.Ser366Phe)
NM_007078.3(LDB3):c.1160G>T (p.Gly387Val)
NM_007078.3(LDB3):c.116_245+122del
NM_007078.3(LDB3):c.1186C>T (p.Arg396Trp)
NM_007078.3(LDB3):c.1198A>G (p.Thr400Ala)
NM_007078.3(LDB3):c.1219_1222del (p.Val407fs)
NM_007078.3(LDB3):c.1227G>C (p.Gln409His)
NM_007078.3(LDB3):c.1231+4A>C rs2132466323
NM_007078.3(LDB3):c.1252C>T (p.Pro418Ser)
NM_007078.3(LDB3):c.1253C>T (p.Pro418Leu) rs141870580
NM_007078.3(LDB3):c.1268A>G (p.Asn423Ser)
NM_007078.3(LDB3):c.1274G>A (p.Ser425Asn)
NM_007078.3(LDB3):c.1286A>T (p.Tyr429Phe)
NM_007078.3(LDB3):c.1288A>G (p.Thr430Ala) rs143163993
NM_007078.3(LDB3):c.1289C>T (p.Thr430Ile) rs746183666
NM_007078.3(LDB3):c.1327C>T (p.Pro443Ser)
NM_007078.3(LDB3):c.1336A>G (p.Thr446Ala)
NM_007078.3(LDB3):c.1337C>A (p.Thr446Asn)
NM_007078.3(LDB3):c.1366T>A (p.Ser456Thr)
NM_007078.3(LDB3):c.1385C>A (p.Thr462Asn)
NM_007078.3(LDB3):c.1388C>A (p.Pro463His)
NM_007078.3(LDB3):c.1388C>T (p.Pro463Leu)
NM_007078.3(LDB3):c.1426G>T (p.Ala476Ser) rs1222316982
NM_007078.3(LDB3):c.1445C>T (p.Ala482Val) rs774313535
NM_007078.3(LDB3):c.145G>A (p.Val49Met) rs200645175
NM_007078.3(LDB3):c.145G>C (p.Val49Leu) rs200645175
NM_007078.3(LDB3):c.1466C>G (p.Pro489Arg)
NM_007078.3(LDB3):c.1468T>C (p.Trp490Arg) rs1589675054
NM_007078.3(LDB3):c.1478A>G (p.Asp493Gly)
NM_007078.3(LDB3):c.1497G>C (p.Lys499Asn) rs1278770988
NM_007078.3(LDB3):c.1498T>C (p.Phe500Leu)
NM_007078.3(LDB3):c.1507G>A (p.Gly503Ser)
NM_007078.3(LDB3):c.1520C>T (p.Thr507Ile)
NM_007078.3(LDB3):c.1538C>A (p.Thr513Asn) rs748433510
NM_007078.3(LDB3):c.1567C>G (p.Pro523Ala) rs794729062
NM_007078.3(LDB3):c.1601_1602dup (p.Thr535fs) rs1846890164
NM_007078.3(LDB3):c.1603_1605delinsTGCCACTCA (p.Thr535delinsCysHisSer) rs1589675306
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_007078.3(LDB3):c.1618G>A (p.Glu540Lys)
NM_007078.3(LDB3):c.1732G>A (p.Ala578Thr)
NM_007078.3(LDB3):c.1741A>C (p.Lys581Gln) rs751506530
NM_007078.3(LDB3):c.1772A>G (p.Glu591Gly)
NM_007078.3(LDB3):c.1779G>C (p.Gln593His) rs1291914478
NM_007078.3(LDB3):c.1780AAC[1] (p.Asn595del) rs1554864337
NM_007078.3(LDB3):c.1789T>C (p.Tyr597His) rs727503131
NM_007078.3(LDB3):c.1819G>A (p.Ala607Thr)
NM_007078.3(LDB3):c.1857+4A>G
NM_007078.3(LDB3):c.1862T>G (p.Val621Gly)
NM_007078.3(LDB3):c.18_23dup (p.Thr8_Gly9insLeuThr)
NM_007078.3(LDB3):c.1924C>G (p.Pro642Ala)
NM_007078.3(LDB3):c.1931G>A (p.Gly644Glu)
NM_007078.3(LDB3):c.1939C>G (p.Leu647Val)
NM_007078.3(LDB3):c.1952A>C (p.Glu651Ala)
NM_007078.3(LDB3):c.1954G>C (p.Asp652His)
NM_007078.3(LDB3):c.1957G>A (p.Gly653Arg)
NM_007078.3(LDB3):c.1995C>G (p.Phe665Leu)
NM_007078.3(LDB3):c.2008C>T (p.His670Tyr)
NM_007078.3(LDB3):c.2047A>C (p.Ile683Leu)
NM_007078.3(LDB3):c.2098T>C (p.Cys700Arg)
NM_007078.3(LDB3):c.212C>G (p.Ser71Cys) rs772249948
NM_007078.3(LDB3):c.2131T>C (p.Ser711Pro)
NM_007078.3(LDB3):c.2132C>A (p.Ser711Tyr)
NM_007078.3(LDB3):c.2134AAG[1] (p.Lys713del)
NM_007078.3(LDB3):c.2150T>G (p.Leu717Arg) rs753237785
NM_007078.3(LDB3):c.2155A>C (p.Lys719Gln) rs397517220
NM_007078.3(LDB3):c.2161C>G (p.His721Asp)
NM_007078.3(LDB3):c.2180T>C (p.Leu727Ser)
NM_007078.3(LDB3):c.230G>A (p.Ser77Asn) rs1554849117
NM_007078.3(LDB3):c.259A>C (p.Ile87Leu)
NM_007078.3(LDB3):c.263C>G (p.Pro88Arg)
NM_007078.3(LDB3):c.269C>T (p.Ser90Phe)
NM_007078.3(LDB3):c.26G>T (p.Gly9Val)
NM_007078.3(LDB3):c.280C>T (p.Pro94Ser)
NM_007078.3(LDB3):c.296C>T (p.Pro99Leu)
NM_007078.3(LDB3):c.305T>C (p.Val102Ala)
NM_007078.3(LDB3):c.359C>T (p.Pro120Leu)
NM_007078.3(LDB3):c.395C>G (p.Thr132Ser)
NM_007078.3(LDB3):c.397C>T (p.Pro133Ser)
NM_007078.3(LDB3):c.412C>G (p.Leu138Val)
NM_007078.3(LDB3):c.418C>G (p.Pro140Ala)
NM_007078.3(LDB3):c.434C>T (p.Ala145Val)
NM_007078.3(LDB3):c.469G>A (p.Glu157Lys) rs770678454
NM_007078.3(LDB3):c.508G>T (p.Ala170Ser)
NM_007078.3(LDB3):c.529dup (p.Ala177fs) rs730880345
NM_007078.3(LDB3):c.532C>T (p.Arg178Trp) rs730880128
NM_007078.3(LDB3):c.541C>T (p.Leu181Phe) rs1589623326
NM_007078.3(LDB3):c.545G>A (p.Gly182Asp) rs2132372366
NM_007078.3(LDB3):c.548del (p.Pro183fs) rs1285270306
NM_007078.3(LDB3):c.55G>C (p.Gly19Arg) rs777413488
NM_007078.3(LDB3):c.572A>G (p.Gln191Arg)
NM_007078.3(LDB3):c.573G>T (p.Gln191His)
NM_007078.3(LDB3):c.628A>G (p.Met210Val)
NM_007078.3(LDB3):c.629T>C (p.Met210Thr)
NM_007078.3(LDB3):c.632C>T (p.Ala211Val)
NM_007078.3(LDB3):c.638T>C (p.Met213Thr)
NM_007078.3(LDB3):c.688G>A (p.Gly230Arg)
NM_007078.3(LDB3):c.689G>A (p.Gly230Glu)
NM_007078.3(LDB3):c.718G>C (p.Asp240His)
NM_007078.3(LDB3):c.762C>A (p.Asn254Lys)
NM_007078.3(LDB3):c.797G>A (p.Arg266His)
NM_007078.3(LDB3):c.842T>C (p.Met281Thr)
NM_007078.3(LDB3):c.860-3C>T
NM_007078.3(LDB3):c.892T>A (p.Ser298Thr)
NM_007078.3(LDB3):c.897-2195_1046del
NM_007078.3(LDB3):c.913G>T (p.Ala305Ser)
NM_007078.3(LDB3):c.946C>A (p.Leu316Met)
NM_007078.3(LDB3):c.948_957dup (p.Ser320fs)
NM_007078.3(LDB3):c.952C>T (p.Pro318Ser)
NM_007078.3(LDB3):c.990T>G (p.Ser330Arg)
NM_007373.4(SHOC2):c.1257G>C (p.Glu419Asp)
NM_007373.4(SHOC2):c.1292T>A (p.Ile431Asn)
NM_007373.4(SHOC2):c.1554C>A (p.Asn518Lys)
NM_007373.4(SHOC2):c.1587C>A (p.Asn529Lys)
NM_007373.4(SHOC2):c.173G>A (p.Ser58Asn)
NM_007373.4(SHOC2):c.202G>A (p.Val68Ile)
NM_007373.4(SHOC2):c.214A>G (p.Ile72Val)
NM_007373.4(SHOC2):c.256A>G (p.Ser86Gly)
NM_007373.4(SHOC2):c.290G>T (p.Cys97Phe)
NM_007373.4(SHOC2):c.370C>A (p.Gln124Lys)
NM_007373.4(SHOC2):c.526T>A (p.Leu176Ile)
NM_007373.4(SHOC2):c.52G>C (p.Val18Leu)
NM_007373.4(SHOC2):c.53T>C (p.Val18Ala)
NM_007373.4(SHOC2):c.562G>C (p.Val188Leu)
NM_007373.4(SHOC2):c.576T>G (p.Asp192Glu)
NM_007373.4(SHOC2):c.578C>G (p.Ser193Cys)
NM_007373.4(SHOC2):c.755A>G (p.His252Arg)
NM_007373.4(SHOC2):c.763A>G (p.Lys255Glu)
NM_007373.4(SHOC2):c.77A>G (p.Lys26Arg)
NM_007373.4(SHOC2):c.892G>A (p.Ala298Thr)
NM_007373.4(SHOC2):c.907T>G (p.Leu303Val)
NM_007373.4(SHOC2):c.910G>A (p.Ala304Thr)
NM_007373.4(SHOC2):c.911C>T (p.Ala304Val) rs759211899
NM_007373.4(SHOC2):c.92C>T (p.Ser31Phe)
NM_012186.3(FOXE3):c.101G>T (p.Gly34Val)
NM_012186.3(FOXE3):c.103G>A (p.Ala35Thr)
NM_012186.3(FOXE3):c.129G>C (p.Glu43Asp)
NM_012186.3(FOXE3):c.134C>A (p.Ala45Glu)
NM_012186.3(FOXE3):c.139G>C (p.Gly47Arg)
NM_012186.3(FOXE3):c.140G>T (p.Gly47Val)
NM_012186.3(FOXE3):c.143G>C (p.Arg48Pro)
NM_012186.3(FOXE3):c.145G>A (p.Gly49Arg)
NM_012186.3(FOXE3):c.151G>T (p.Ala51Ser) rs1366587048
NM_012186.3(FOXE3):c.152C>A (p.Ala51Glu)
NM_012186.3(FOXE3):c.154G>C (p.Ala52Pro)
NM_012186.3(FOXE3):c.157C>G (p.Pro53Ala)
NM_012186.3(FOXE3):c.167C>A (p.Ala56Glu)
NM_012186.3(FOXE3):c.173G>A (p.Gly58Asp)
NM_012186.3(FOXE3):c.176C>T (p.Pro59Leu)
NM_012186.3(FOXE3):c.178G>T (p.Gly60Trp) rs1646883301
NM_012186.3(FOXE3):c.190C>G (p.Arg64Gly)
NM_012186.3(FOXE3):c.196C>G (p.Pro66Ala)
NM_012186.3(FOXE3):c.218C>T (p.Pro73Leu)
NM_012186.3(FOXE3):c.245T>G (p.Met82Arg)
NM_012186.3(FOXE3):c.260C>A (p.Ala87Asp)
NM_012186.3(FOXE3):c.311G>A (p.Arg104His)
NM_012186.3(FOXE3):c.331A>T (p.Ser111Cys)
NM_012186.3(FOXE3):c.395T>G (p.Val132Gly)
NM_012186.3(FOXE3):c.398C>T (p.Pro133Leu)
NM_012186.3(FOXE3):c.3G>T (p.Met1Ile)
NM_012186.3(FOXE3):c.454G>A (p.Ala152Thr)
NM_012186.3(FOXE3):c.496C>A (p.Arg166Ser)
NM_012186.3(FOXE3):c.508G>A (p.Ala170Thr)
NM_012186.3(FOXE3):c.509C>T (p.Ala170Val)
NM_012186.3(FOXE3):c.526_539del (p.Ala176fs) rs2124043258
NM_012186.3(FOXE3):c.548C>A (p.Pro183Gln)
NM_012186.3(FOXE3):c.559C>T (p.Pro187Ser) rs2124043430
NM_012186.3(FOXE3):c.560C>T (p.Pro187Leu)
NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3]) rs768610152
NM_012186.3(FOXE3):c.575CGCCCG[1] (p.192AP[1]) rs1336140217
NM_012186.3(FOXE3):c.575CGCCCG[3] (p.Pro195_Gly196insAlaPro)
NM_012186.3(FOXE3):c.635C>T (p.Pro212Leu)
NM_012186.3(FOXE3):c.661A>T (p.Ser221Cys)
NM_012186.3(FOXE3):c.704C>T (p.Pro235Leu)
NM_012186.3(FOXE3):c.70C>A (p.Pro24Thr)
NM_012186.3(FOXE3):c.725C>T (p.Ala242Val)
NM_012186.3(FOXE3):c.733G>A (p.Ala245Thr)
NM_012186.3(FOXE3):c.73T>G (p.Ser25Ala)
NM_012186.3(FOXE3):c.740C>T (p.Ala247Val)
NM_012186.3(FOXE3):c.758G>A (p.Cys253Tyr)
NM_012186.3(FOXE3):c.769G>T (p.Ala257Ser)
NM_012186.3(FOXE3):c.781C>G (p.Leu261Val)
NM_012186.3(FOXE3):c.809T>C (p.Val270Ala)
NM_012186.3(FOXE3):c.80C>T (p.Pro27Leu)
NM_012186.3(FOXE3):c.823C>A (p.Arg275Ser)
NM_012186.3(FOXE3):c.828CGGCCC[3] (p.Pro280_Leu281insGlyPro)
NM_012186.3(FOXE3):c.82C>A (p.Pro28Thr)
NM_012186.3(FOXE3):c.835G>A (p.Gly279Ser)
NM_012186.3(FOXE3):c.839C>G (p.Pro280Arg)
NM_012186.3(FOXE3):c.86C>G (p.Pro29Arg)
NM_012186.3(FOXE3):c.872G>A (p.Gly291Glu)
NM_012186.3(FOXE3):c.908A>C (p.Glu303Ala)
NM_012186.3(FOXE3):c.938C>G (p.Ser313Trp)
NM_014000.3(VCL):c.-4C>T
NM_014000.3(VCL):c.1001_1015del (p.Gln334_Leu338del) rs1554817370
NM_014000.3(VCL):c.1016G>A (p.Arg339His)
NM_014000.3(VCL):c.1031G>T (p.Gly344Val)
NM_014000.3(VCL):c.1040C>A (p.Pro347Gln)
NM_014000.3(VCL):c.1064A>G (p.Gln355Arg)
NM_014000.3(VCL):c.1108G>C (p.Ala370Pro)
NM_014000.3(VCL):c.1115G>A (p.Arg372His) rs377289804
NM_014000.3(VCL):c.1171G>T (p.Ala391Ser)
NM_014000.3(VCL):c.118C>G (p.Leu40Val)
NM_014000.3(VCL):c.1195A>G (p.Asn399Asp) rs377228795
NM_014000.3(VCL):c.1198G>T (p.Gly400Cys) rs201361282
NM_014000.3(VCL):c.1228G>A (p.Gly410Ser)
NM_014000.3(VCL):c.122C>T (p.Thr41Ile)
NM_014000.3(VCL):c.1312A>G (p.Ile438Val)
NM_014000.3(VCL):c.1332A>C (p.Lys444Asn)
NM_014000.3(VCL):c.133G>A (p.Ala45Thr)
NM_014000.3(VCL):c.1345C>T (p.Arg449Ter)
NM_014000.3(VCL):c.1349G>C (p.Arg450Thr)
NM_014000.3(VCL):c.1354G>A (p.Gly452Arg) rs1015527957
NM_014000.3(VCL):c.1359A>C (p.Lys453Asn)
NM_014000.3(VCL):c.136G>T (p.Ala46Ser)
NM_014000.3(VCL):c.1379G>A (p.Arg460Gln) rs753026034
NM_014000.3(VCL):c.1391A>G (p.Lys464Arg)
NM_014000.3(VCL):c.1395G>T (p.Gln465His)
NM_014000.3(VCL):c.142C>T (p.Gln48Ter)
NM_014000.3(VCL):c.1445C>A (p.Ala482Asp)
NM_014000.3(VCL):c.145G>A (p.Ala49Thr)
NM_014000.3(VCL):c.146C>G (p.Ala49Gly)
NM_014000.3(VCL):c.1472T>C (p.Val491Ala) rs1839933596
NM_014000.3(VCL):c.1495C>G (p.Gln499Glu)
NM_014000.3(VCL):c.1538G>A (p.Gly513Glu)
NM_014000.3(VCL):c.1543+2dup
NM_014000.3(VCL):c.1589C>G (p.Ala530Gly)
NM_014000.3(VCL):c.1591A>G (p.Asn531Asp)
NM_014000.3(VCL):c.1594G>A (p.Val532Ile)
NM_014000.3(VCL):c.1627G>A (p.Ala543Thr)
NM_014000.3(VCL):c.1639C>T (p.Arg547Ter) rs397517234
NM_014000.3(VCL):c.1648C>G (p.Gln550Glu) rs1406371942
NM_014000.3(VCL):c.1655C>A (p.Thr552Lys)
NM_014000.3(VCL):c.1661A>G (p.Gln554Arg)
NM_014000.3(VCL):c.1666G>T (p.Ala556Ser)
NM_014000.3(VCL):c.168+1del
NM_014000.3(VCL):c.1685G>A (p.Gly562Glu)
NM_014000.3(VCL):c.1699C>T (p.Pro567Ser)
NM_014000.3(VCL):c.1718C>G (p.Ala573Gly)
NM_014000.3(VCL):c.173G>C (p.Gly58Ala)
NM_014000.3(VCL):c.1791T>A (p.Asp597Glu) rs1839983396
NM_014000.3(VCL):c.1801G>A (p.Asp601Asn)
NM_014000.3(VCL):c.1807A>T (p.Thr603Ser)
NM_014000.3(VCL):c.1810A>G (p.Thr604Ala) rs754470470
NM_014000.3(VCL):c.1856C>A (p.Ala619Glu) rs771628544
NM_014000.3(VCL):c.1856C>T (p.Ala619Val) rs771628544
NM_014000.3(VCL):c.1877T>C (p.Phe626Ser)
NM_014000.3(VCL):c.1880_1881insGGA (p.Phe626_Asp627insGlu)
NM_014000.3(VCL):c.1921G>A (p.Gly641Ser) rs765123545
NM_014000.3(VCL):c.1938G>T (p.Lys646Asn)
NM_014000.3(VCL):c.2021A>C (p.Gln674Pro)
NM_014000.3(VCL):c.2021A>G (p.Gln674Arg)
NM_014000.3(VCL):c.2023-1177_2051del
NM_014000.3(VCL):c.2035G>T (p.Ala679Ser) rs375392559
NM_014000.3(VCL):c.20G>A (p.Arg7His) rs764871020
NM_014000.3(VCL):c.2132-3C>A rs1840110148
NM_014000.3(VCL):c.2137G>T (p.Val713Leu) rs374737519
NM_014000.3(VCL):c.2143G>A (p.Glu715Lys) rs1022329091
NM_014000.3(VCL):c.2219C>T (p.Ala740Val)
NM_014000.3(VCL):c.2255G>A (p.Gly752Glu) rs2131928418
NM_014000.3(VCL):c.2275C>T (p.Arg759Trp)
NM_014000.3(VCL):c.227C>T (p.Pro76Leu)
NM_014000.3(VCL):c.2330C>T (p.Pro777Leu) rs1564532927
NM_014000.3(VCL):c.2339G>A (p.Arg780His)
NM_014000.3(VCL):c.2386C>A (p.Pro796Thr) rs749471739
NM_014000.3(VCL):c.2388_2389delinsAG (p.Met797Val) rs1840114333
NM_014000.3(VCL):c.2389A>G (p.Met797Val)
NM_014000.3(VCL):c.2393T>C (p.Val798Ala)
NM_014000.3(VCL):c.2395A>G (p.Met799Val)
NM_014000.3(VCL):c.2407G>A (p.Ala803Thr) rs754294941
NM_014000.3(VCL):c.2435-2A>C
NM_014000.3(VCL):c.2453T>A (p.Leu818Gln) rs794727192
NM_014000.3(VCL):c.2455G>A (p.Asp819Asn)
NM_014000.3(VCL):c.2521G>A (p.Asp841Asn)
NM_014000.3(VCL):c.254G>T (p.Cys85Phe)
NM_014000.3(VCL):c.256A>T (p.Thr86Ser)
NM_014000.3(VCL):c.2656C>T (p.Pro886Ser)
NM_014000.3(VCL):c.2671G>A (p.Gly891Arg) rs2131933634
NM_014000.3(VCL):c.2700G>A (p.Met900Ile)
NM_014000.3(VCL):c.2771G>A (p.Gly924Asp)
NM_014000.3(VCL):c.2775A>G (p.Ile925Met)
NM_014000.3(VCL):c.2775_2780del (p.Gly926_Val927del) rs757018106
NM_014000.3(VCL):c.2777G>A (p.Gly926Asp)
NM_014000.3(VCL):c.2788G>A (p.Glu930Lys)
NM_014000.3(VCL):c.2809G>A (p.Ala937Thr) rs1314540118
NM_014000.3(VCL):c.2818C>T (p.Pro940Ser)
NM_014000.3(VCL):c.2825C>A (p.Pro942His)
NM_014000.3(VCL):c.2827C>A (p.Pro943Thr) rs71579375
NM_014000.3(VCL):c.2828del (p.Pro943fs) rs1840230101
NM_014000.3(VCL):c.2828dup (p.Pro943_Asp944insTer)
NM_014000.3(VCL):c.2866A>G (p.Met956Val) rs761830073
NM_014000.3(VCL):c.2882C>T (p.Pro961Leu) rs754591130
NM_014000.3(VCL):c.2918T>C (p.Leu973Ser)
NM_014000.3(VCL):c.2929G>C (p.Ala977Pro)
NM_014000.3(VCL):c.2940G>T (p.Trp980Cys)
NM_014000.3(VCL):c.3025A>G (p.Ser1009Gly)
NM_014000.3(VCL):c.3212C>T (p.Ala1071Val)
NM_014000.3(VCL):c.3250T>C (p.Ser1084Pro)
NM_014000.3(VCL):c.3297G>A (p.Met1099Ile)
NM_014000.3(VCL):c.3373C>G (p.Arg1125Gly)
NM_014000.3(VCL):c.3380T>C (p.Val1127Ala)
NM_014000.3(VCL):c.448G>T (p.Val150Leu)
NM_014000.3(VCL):c.451G>T (p.Val151Leu)
NM_014000.3(VCL):c.530A>G (p.Glu177Gly)
NM_014000.3(VCL):c.535C>G (p.Gln179Glu)
NM_014000.3(VCL):c.562C>G (p.Arg188Gly)
NM_014000.3(VCL):c.565G>A (p.Val189Met) rs151045204
NM_014000.3(VCL):c.565G>T (p.Val189Leu) rs151045204
NM_014000.3(VCL):c.585G>A (p.Met195Ile)
NM_014000.3(VCL):c.597del (p.Glu200fs) rs777492997
NM_014000.3(VCL):c.622+4C>G rs201020802
NM_014000.3(VCL):c.709dup (p.Met237fs)
NM_014000.3(VCL):c.731T>A (p.Ile244Lys) rs886038819
NM_014000.3(VCL):c.732A>G (p.Ile244Met)
NM_014000.3(VCL):c.773G>A (p.Trp258Ter)
NM_014000.3(VCL):c.780C>G (p.Ser260Arg) rs774377548
NM_014000.3(VCL):c.79C>G (p.His27Asp)
NM_014000.3(VCL):c.818T>C (p.Ile273Thr) rs762380935
NM_014000.3(VCL):c.854G>T (p.Arg285Leu)
NM_014000.3(VCL):c.868T>A (p.Ser290Thr)
NM_014000.3(VCL):c.873A>G (p.Pro291=)
NM_014000.3(VCL):c.889C>T (p.Gln297Ter)
NM_014000.3(VCL):c.898A>G (p.Arg300Gly)
NM_014000.3(VCL):c.923A>T (p.Lys308Ile)
NM_014000.3(VCL):c.949G>C (p.Glu317Gln)
NM_014000.3(VCL):c.960G>C (p.Glu320Asp)
NM_014000.3(VCL):c.964C>G (p.Leu322Val)
NM_014000.3(VCL):c.981G>A (p.Met327Ile)
NM_014391.3(ANKRD1):c.125A>G (p.Gln42Arg) rs1408164414
NM_014391.3(ANKRD1):c.142C>G (p.Leu48Val)
NM_014391.3(ANKRD1):c.154C>T (p.Pro52Ser) rs397517248
NM_014391.3(ANKRD1):c.167G>T (p.Gly56Val)
NM_014391.3(ANKRD1):c.175C>T (p.Gln59Ter)
NM_014391.3(ANKRD1):c.178T>A (p.Trp60Arg)
NM_014391.3(ANKRD1):c.191AAC[1] (p.Gln65del) rs762660319
NM_014391.3(ANKRD1):c.207+1G>T
NM_014391.3(ANKRD1):c.217A>G (p.Lys73Glu)
NM_014391.3(ANKRD1):c.222A>C (p.Lys74Asn)
NM_014391.3(ANKRD1):c.222dup (p.Leu75fs) rs776659587
NM_014391.3(ANKRD1):c.22G>A (p.Glu8Lys)
NM_014391.3(ANKRD1):c.269T>A (p.Ile90Asn)
NM_014391.3(ANKRD1):c.271A>G (p.Ile91Val)
NM_014391.3(ANKRD1):c.337G>T (p.Glu113Ter)
NM_014391.3(ANKRD1):c.400C>T (p.Pro134Ser)
NM_014391.3(ANKRD1):c.426C>G (p.Asp142Glu)
NM_014391.3(ANKRD1):c.429_431del (p.Lys143del)
NM_014391.3(ANKRD1):c.449A>G (p.Asp150Gly) rs150266349
NM_014391.3(ANKRD1):c.450T>G (p.Asp150Glu)
NM_014391.3(ANKRD1):c.451G>T (p.Glu151Ter)
NM_014391.3(ANKRD1):c.461G>A (p.Arg154Gln)
NM_014391.3(ANKRD1):c.466G>C (p.Ala156Pro) rs762882780
NM_014391.3(ANKRD1):c.524C>G (p.Ala175Gly)
NM_014391.3(ANKRD1):c.535A>G (p.Ile179Val) rs1554827780
NM_014391.3(ANKRD1):c.53G>C (p.Gly18Ala)
NM_014391.3(ANKRD1):c.551T>C (p.Met184Thr) rs1589509599
NM_014391.3(ANKRD1):c.553-3T>C rs1554827672
NM_014391.3(ANKRD1):c.553-6_553-1dup
NM_014391.3(ANKRD1):c.554T>C (p.Leu185Pro)
NM_014391.3(ANKRD1):c.563C>T (p.Thr188Ile) rs1847373286
NM_014391.3(ANKRD1):c.582C>G (p.Ser194Arg)
NM_014391.3(ANKRD1):c.583C>T (p.Arg195Cys)
NM_014391.3(ANKRD1):c.584G>C (p.Arg195Pro)
NM_014391.3(ANKRD1):c.596T>A (p.Leu199Gln)
NM_014391.3(ANKRD1):c.643del (p.Arg215fs)
NM_014391.3(ANKRD1):c.651+4T>A rs765256800
NM_014391.3(ANKRD1):c.651+5T>C
NM_014391.3(ANKRD1):c.670C>T (p.His224Tyr) rs764936194
NM_014391.3(ANKRD1):c.695A>G (p.Tyr232Cys)
NM_014391.3(ANKRD1):c.696T>A (p.Tyr232Ter)
NM_014391.3(ANKRD1):c.697G>C (p.Glu233Gln) rs776158687
NM_014391.3(ANKRD1):c.699G>C (p.Glu233Asp)
NM_014391.3(ANKRD1):c.703G>A (p.Ala235Thr)
NM_014391.3(ANKRD1):c.706G>A (p.Glu236Lys)
NM_014391.3(ANKRD1):c.748A>T (p.Arg250Ter)
NM_014391.3(ANKRD1):c.749G>C (p.Arg250Thr)
NM_014391.3(ANKRD1):c.74C>A (p.Pro25His)
NM_014391.3(ANKRD1):c.750+3_750+6del
NM_014391.3(ANKRD1):c.750+4A>G
NM_014391.3(ANKRD1):c.761C>G (p.Thr254Ser) rs1018718576
NM_014391.3(ANKRD1):c.764del (p.Pro255fs) rs753476942
NM_014391.3(ANKRD1):c.785T>C (p.Leu262Pro)
NM_014391.3(ANKRD1):c.794A>C (p.Tyr265Ser)
NM_014391.3(ANKRD1):c.794A>G (p.Tyr265Cys)
NM_014391.3(ANKRD1):c.794_800dup (p.Met267delinsIleTer)
NM_014391.3(ANKRD1):c.889A>G (p.Asn297Asp)
NM_014391.3(ANKRD1):c.88G>T (p.Asp30Tyr)
NM_014391.3(ANKRD1):c.908T>G (p.Phe303Cys)
NM_014391.3(ANKRD1):c.92G>A (p.Gly31Glu) rs763320656
NM_014391.3(ANKRD1):c.933C>A (p.Tyr311Ter)
NM_014391.3(ANKRD1):c.944G>A (p.Arg315His) rs746392266
NM_014391.3(ANKRD1):c.949G>C (p.Ala317Pro) rs771333829
NM_014391.3(ANKRD1):c.99T>G (p.Tyr33Ter)
NM_014908.4(DOLK):c.1066C>T (p.Arg356Trp)
NM_014908.4(DOLK):c.1110C>A (p.Phe370Leu)
NM_014908.4(DOLK):c.1138C>T (p.Arg380Cys) rs775869216
NM_014908.4(DOLK):c.1141A>G (p.Ile381Val)
NM_014908.4(DOLK):c.1205G>C (p.Gly402Ala)
NM_014908.4(DOLK):c.1229A>G (p.Tyr410Cys)
NM_014908.4(DOLK):c.1282C>G (p.Gln428Glu)
NM_014908.4(DOLK):c.1288G>C (p.Gly430Arg) rs140983401
NM_014908.4(DOLK):c.1327G>A (p.Gly443Ser)
NM_014908.4(DOLK):c.136G>T (p.Ala46Ser)
NM_014908.4(DOLK):c.1391T>G (p.Ile464Ser)
NM_014908.4(DOLK):c.143C>T (p.Ala48Val) rs1293227197
NM_014908.4(DOLK):c.1462G>T (p.Ala488Ser) rs1588261659
NM_014908.4(DOLK):c.1503_1504insTTGGTCCATCC (p.Ser502fs)
NM_014908.4(DOLK):c.1508A>G (p.Tyr503Cys)
NM_014908.4(DOLK):c.1510G>A (p.Ala504Thr)
NM_014908.4(DOLK):c.1569A>G (p.Ile523Met)
NM_014908.4(DOLK):c.1586C>T (p.Pro529Leu)
NM_014908.4(DOLK):c.170A>G (p.Gln57Arg)
NM_014908.4(DOLK):c.200G>A (p.Gly67Glu)
NM_014908.4(DOLK):c.225G>A (p.Met75Ile)
NM_014908.4(DOLK):c.277C>G (p.Leu93Val)
NM_014908.4(DOLK):c.280G>A (p.Val94Ile)
NM_014908.4(DOLK):c.313C>A (p.Pro105Thr) rs1454594732
NM_014908.4(DOLK):c.322G>C (p.Glu108Gln)
NM_014908.4(DOLK):c.325C>A (p.Arg109Ser) rs755188614
NM_014908.4(DOLK):c.325C>G (p.Arg109Gly) rs755188614
NM_014908.4(DOLK):c.35C>T (p.Pro12Leu)
NM_014908.4(DOLK):c.377C>T (p.Ser126Leu)
NM_014908.4(DOLK):c.407T>C (p.Val136Ala) rs1306944564
NM_014908.4(DOLK):c.41C>T (p.Ala14Val)
NM_014908.4(DOLK):c.452T>C (p.Ile151Thr)
NM_014908.4(DOLK):c.454A>G (p.Ile152Val)
NM_014908.4(DOLK):c.529C>T (p.Leu177Phe)
NM_014908.4(DOLK):c.56C>T (p.Ser19Leu)
NM_014908.4(DOLK):c.59T>G (p.Val20Gly)
NM_014908.4(DOLK):c.632G>A (p.Arg211His)
NM_014908.4(DOLK):c.650A>G (p.Glu217Gly)
NM_014908.4(DOLK):c.657G>C (p.Gln219His)
NM_014908.4(DOLK):c.698G>A (p.Gly233Glu)
NM_014908.4(DOLK):c.709A>G (p.Met237Val)
NM_014908.4(DOLK):c.728C>T (p.Thr243Ile)
NM_014908.4(DOLK):c.731T>A (p.Leu244Gln)
NM_014908.4(DOLK):c.743T>C (p.Met248Thr)
NM_014908.4(DOLK):c.781C>T (p.Leu261Phe)
NM_014908.4(DOLK):c.791G>T (p.Cys264Phe)
NM_014908.4(DOLK):c.797T>C (p.Leu266Pro)
NM_014908.4(DOLK):c.847C>T (p.Pro283Ser)
NM_014908.4(DOLK):c.890G>A (p.Arg297His)
NM_014908.4(DOLK):c.907T>C (p.Tyr303His)
NM_014908.4(DOLK):c.922G>A (p.Ala308Thr)
NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) rs746896173
NM_015120.4(ALMS1):c.37G>A (p.Glu13Lys)
NM_015141.4(GPD1L):c.1020G>A (p.Met340Ile)
NM_015141.4(GPD1L):c.1025C>G (p.Ser342Cys) rs1553663710
NM_015141.4(GPD1L):c.1028G>C (p.Cys343Ser)
NM_015141.4(GPD1L):c.104C>G (p.Ala35Gly)
NM_015141.4(GPD1L):c.205C>T (p.His69Tyr)
NM_015141.4(GPD1L):c.224T>G (p.Val75Gly) rs1553658277
NM_015141.4(GPD1L):c.270G>A (p.Leu90=) rs2125485191
NM_015141.4(GPD1L):c.283A>G (p.Ile95Val)
NM_015141.4(GPD1L):c.292C>G (p.Gln98Glu)
NM_015141.4(GPD1L):c.298A>C (p.Ile100Leu)
NM_015141.4(GPD1L):c.313G>T (p.Asp105Tyr)
NM_015141.4(GPD1L):c.322A>T (p.Thr108Ser)
NM_015141.4(GPD1L):c.356C>A (p.Thr119Asn)
NM_015141.4(GPD1L):c.358C>T (p.Leu120Phe)
NM_015141.4(GPD1L):c.366+5C>T rs1553659674
NM_015141.4(GPD1L):c.391C>A (p.Leu131Met) rs1700722701
NM_015141.4(GPD1L):c.400A>G (p.Ile134Val)
NM_015141.4(GPD1L):c.400A>T (p.Ile134Phe)
NM_015141.4(GPD1L):c.416G>T (p.Arg139Leu)
NM_015141.4(GPD1L):c.454G>A (p.Ala152Thr)
NM_015141.4(GPD1L):c.479C>T (p.Ala160Val)
NM_015141.4(GPD1L):c.506-3C>T
NM_015141.4(GPD1L):c.50G>C (p.Gly17Ala)
NM_015141.4(GPD1L):c.518T>C (p.Met173Thr) rs886058332
NM_015141.4(GPD1L):c.535T>C (p.Phe179Leu)
NM_015141.4(GPD1L):c.544C>T (p.Leu182Phe)
NM_015141.4(GPD1L):c.560A>G (p.Asn187Ser) rs951273802
NM_015141.4(GPD1L):c.585T>G (p.Asp195Glu)
NM_015141.4(GPD1L):c.58G>A (p.Val20Ile)
NM_015141.4(GPD1L):c.611C>G (p.Ala204Gly)
NM_015141.4(GPD1L):c.668A>G (p.Asp223Gly) rs1553662705
NM_015141.4(GPD1L):c.674C>T (p.Thr225Ile)
NM_015141.4(GPD1L):c.700C>T (p.Leu234Phe)
NM_015141.4(GPD1L):c.740G>A (p.Gly247Asp)
NM_015141.4(GPD1L):c.745G>A (p.Val249Met) rs148464224
NM_015141.4(GPD1L):c.745G>C (p.Val249Leu) rs148464224
NM_015141.4(GPD1L):c.827C>T (p.Ala276Val)
NM_015141.4(GPD1L):c.837C>G (p.Phe279Leu)
NM_015141.4(GPD1L):c.853-2A>G rs766733448
NM_015141.4(GPD1L):c.857T>C (p.Ile286Thr)
NM_015141.4(GPD1L):c.911C>T (p.Thr304Ile)
NM_015141.4(GPD1L):c.917_918delinsGG (p.Ala306Gly) rs1701049565
NM_015141.4(GPD1L):c.929G>A (p.Arg310His)
NM_015141.4(GPD1L):c.995A>C (p.Tyr332Ser)
NM_015627.3(LDLRAP1):c.102C>A (p.Asn34Lys)
NM_015627.3(LDLRAP1):c.10C>T (p.Leu4Phe)
NM_015627.3(LDLRAP1):c.122C>A (p.Thr41Lys)
NM_015627.3(LDLRAP1):c.237G>T (p.Lys79Asn)
NM_015627.3(LDLRAP1):c.289A>G (p.Ile97Val)
NM_015627.3(LDLRAP1):c.299C>A (p.Thr100Lys)
NM_015627.3(LDLRAP1):c.302A>T (p.Asp101Val)
NM_015627.3(LDLRAP1):c.362C>T (p.Ala121Val)
NM_015627.3(LDLRAP1):c.394A>G (p.Ile132Val)
NM_015627.3(LDLRAP1):c.463C>G (p.Gln155Glu)
NM_015627.3(LDLRAP1):c.467C>T (p.Ala156Val)
NM_015627.3(LDLRAP1):c.46A>C (p.Ser16Arg) rs1218572882
NM_015627.3(LDLRAP1):c.490G>A (p.Ala164Thr)
NM_015627.3(LDLRAP1):c.496A>G (p.Lys166Glu)
NM_015627.3(LDLRAP1):c.497A>G (p.Lys166Arg)
NM_015627.3(LDLRAP1):c.502G>A (p.Ala168Thr)
NM_015627.3(LDLRAP1):c.544A>G (p.Arg182Gly)
NM_015627.3(LDLRAP1):c.566G>A (p.Gly189Glu)
NM_015627.3(LDLRAP1):c.566G>C (p.Gly189Ala)
NM_015627.3(LDLRAP1):c.574G>A (p.Val192Ile)
NM_015627.3(LDLRAP1):c.586C>T (p.Arg196Cys)
NM_015627.3(LDLRAP1):c.587G>C (p.Arg196Pro)
NM_015627.3(LDLRAP1):c.599C>T (p.Thr200Ile)
NM_015627.3(LDLRAP1):c.59A>C (p.Gln20Pro)
NM_015627.3(LDLRAP1):c.602_604delinsGCC (p.Pro201_Ser202delinsArgPro)
NM_015627.3(LDLRAP1):c.619G>T (p.Val207Phe)
NM_015627.3(LDLRAP1):c.64T>C (p.Trp22Arg) rs1057515535
NM_015627.3(LDLRAP1):c.656C>G (p.Ala219Gly) rs1448386026
NM_015627.3(LDLRAP1):c.65G>C (p.Trp22Ser)
NM_015627.3(LDLRAP1):c.66G>C (p.Trp22Cys)
NM_015627.3(LDLRAP1):c.66G>T (p.Trp22Cys) rs532723373
NM_015627.3(LDLRAP1):c.674C>G (p.Thr225Arg)
NM_015627.3(LDLRAP1):c.67G>C (p.Gly23Arg)
NM_015627.3(LDLRAP1):c.682G>A (p.Ala228Thr) rs1242550557
NM_015627.3(LDLRAP1):c.688A>G (p.Thr230Ala)
NM_015627.3(LDLRAP1):c.705G>C (p.Glu235Asp)
NM_015627.3(LDLRAP1):c.70G>A (p.Gly24Ser) rs563151154
NM_015627.3(LDLRAP1):c.715C>T (p.Pro239Ser)
NM_015627.3(LDLRAP1):c.782+4A>G
NM_015627.3(LDLRAP1):c.797G>A (p.Arg266Gln)
NM_015627.3(LDLRAP1):c.80G>C (p.Arg27Pro)
NM_015627.3(LDLRAP1):c.84C>G (p.His28Gln)
NM_015627.3(LDLRAP1):c.853C>T (p.Gln285Ter)
NM_015627.3(LDLRAP1):c.871G>A (p.Asp291Asn)
NM_015627.3(LDLRAP1):c.895G>A (p.Gly299Ser)
NM_016203.4(PRKAG2):c.1004T>C (p.Met335Thr) rs730880978
NM_016203.4(PRKAG2):c.1006-1G>A
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile) rs727504707
NM_016203.4(PRKAG2):c.100C>T (p.Arg34Cys)
NM_016203.4(PRKAG2):c.1040A>G (p.Glu347Gly) rs760258924
NM_016203.4(PRKAG2):c.1049G>A (p.Arg350Lys) rs1330644534
NM_016203.4(PRKAG2):c.1061T>C (p.Leu354Ser)
NM_016203.4(PRKAG2):c.1066G>A (p.Glu356Lys)
NM_016203.4(PRKAG2):c.1079C>T (p.Pro360Leu)
NM_016203.4(PRKAG2):c.108C>G (p.His36Gln)
NM_016203.4(PRKAG2):c.1099G>A (p.Asp367Asn)
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser) rs769212614
NM_016203.4(PRKAG2):c.110T>C (p.Ile37Thr)
NM_016203.4(PRKAG2):c.114+2T>G
NM_016203.4(PRKAG2):c.1149C>A (p.His383Gln)
NM_016203.4(PRKAG2):c.1183G>C (p.Ala395Pro)
NM_016203.4(PRKAG2):c.1264A>G (p.Lys422Glu)
NM_016203.4(PRKAG2):c.1321C>T (p.Pro441Ser)
NM_016203.4(PRKAG2):c.1349A>G (p.Asn450Ser)
NM_016203.4(PRKAG2):c.1393G>A (p.Glu465Lys)
NM_016203.4(PRKAG2):c.1423A>G (p.Lys475Glu)
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.4(PRKAG2):c.1525G>T (p.Val509Leu)
NM_016203.4(PRKAG2):c.1532G>A (p.Cys511Tyr)
NM_016203.4(PRKAG2):c.154C>G (p.Leu52Val)
NM_016203.4(PRKAG2):c.1625T>C (p.Val542Ala)
NM_016203.4(PRKAG2):c.1646A>C (p.Asp549Ala) rs730880982
NM_016203.4(PRKAG2):c.1648A>G (p.Ile550Val)
NM_016203.4(PRKAG2):c.1666C>G (p.Leu556Val)
NM_016203.4(PRKAG2):c.1681G>A (p.Ala561Thr) rs61744760
NM_016203.4(PRKAG2):c.1705G>A (p.Glu569Lys) rs730880983
NM_016203.4(PRKAG2):c.224G>C (p.Gly75Ala) rs199963585
NM_016203.4(PRKAG2):c.26A>G (p.Lys9Arg) rs574029693
NM_016203.4(PRKAG2):c.324C>A (p.Phe108Leu)
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.347G>A (p.Arg116His) rs369471907
NM_016203.4(PRKAG2):c.392C>T (p.Ser131Phe)
NM_016203.4(PRKAG2):c.433G>C (p.Gly145Arg)
NM_016203.4(PRKAG2):c.467-2A>G
NM_016203.4(PRKAG2):c.485C>T (p.Ser162Phe) rs779526669
NM_016203.4(PRKAG2):c.4G>A (p.Gly2Arg)
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.571A>G (p.Ile191Val) rs528201736
NM_016203.4(PRKAG2):c.575A>C (p.Tyr192Ser)
NM_016203.4(PRKAG2):c.593C>G (p.Pro198Arg) rs41317142
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs) rs397517275
NM_016203.4(PRKAG2):c.622T>A (p.Ser208Thr) rs1554530665
NM_016203.4(PRKAG2):c.626T>A (p.Phe209Tyr)
NM_016203.4(PRKAG2):c.631A>G (p.Ser211Gly)
NM_016203.4(PRKAG2):c.683C>G (p.Ala228Gly)
NM_016203.4(PRKAG2):c.684+1G>A rs1457532924
NM_016203.4(PRKAG2):c.686C>T (p.Ala229Val)
NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val) rs1554507908
NM_016203.4(PRKAG2):c.693GGC[4] (p.Ala234dup) rs878855020
NM_016203.4(PRKAG2):c.717A>C (p.Glu239Asp)
NM_016203.4(PRKAG2):c.737T>C (p.Leu246Pro)
NM_016203.4(PRKAG2):c.778_781dup (p.Tyr261fs) rs1585114507
NM_016203.4(PRKAG2):c.787C>T (p.Arg263Ter) rs886062100
NM_016203.4(PRKAG2):c.812A>G (p.Tyr271Cys)
NM_016203.4(PRKAG2):c.864+3_864+6del
NM_016203.4(PRKAG2):c.876CTT[1] (p.Phe294del)
NM_016203.4(PRKAG2):c.89G>A (p.Arg30Lys)
NM_016203.4(PRKAG2):c.925A>G (p.Ser309Gly)
NM_016203.4(PRKAG2):c.937A>C (p.Ser313Arg)
NM_016204.4(GDF2):c.1101T>A (p.Asp367Glu)
NM_016204.4(GDF2):c.1184C>T (p.Pro395Leu)
NM_016204.4(GDF2):c.529G>A (p.Asp177Asn)
NM_016204.4(GDF2):c.542C>A (p.Ala181Asp)
NM_016204.4(GDF2):c.740G>T (p.Gly247Val) rs369219783
NM_016204.4(GDF2):c.832C>G (p.His278Asp)
NM_016204.4(GDF2):c.86del (p.Gly29fs)
NM_016204.4(GDF2):c.950G>A (p.Arg317Gln)
NM_016204.4(GDF2):c.968C>T (p.Ala323Val)
NM_016204.4(GDF2):c.998G>A (p.Arg333Gln)
NM_016599.5(MYOZ2):c.-3A>G rs372377840
NM_016599.5(MYOZ2):c.119G>A (p.Arg40Lys)
NM_016599.5(MYOZ2):c.124A>T (p.Ile42Phe)
NM_016599.5(MYOZ2):c.129G>C (p.Met43Ile)
NM_016599.5(MYOZ2):c.135del (p.Glu46fs)
NM_016599.5(MYOZ2):c.141A>T (p.Leu47Phe)
NM_016599.5(MYOZ2):c.178A>T (p.Met60Leu) rs2149221474
NM_016599.5(MYOZ2):c.17C>G (p.Thr6Ser) rs397517289
NM_016599.5(MYOZ2):c.181C>G (p.Arg61Gly) rs755233280
NM_016599.5(MYOZ2):c.193T>G (p.Ser65Ala)
NM_016599.5(MYOZ2):c.198C>A (p.Asp66Glu)
NM_016599.5(MYOZ2):c.1A>T (p.Met1Leu) rs368392953
NM_016599.5(MYOZ2):c.20T>C (p.Met7Thr)
NM_016599.5(MYOZ2):c.217T>A (p.Phe73Ile)
NM_016599.5(MYOZ2):c.221A>G (p.Gln74Arg)
NM_016599.5(MYOZ2):c.222G>T (p.Gln74His)
NM_016599.5(MYOZ2):c.238C>A (p.Gln80Lys)
NM_016599.5(MYOZ2):c.246+4G>A
NM_016599.5(MYOZ2):c.253A>C (p.Ile85Leu)
NM_016599.5(MYOZ2):c.255T>G (p.Ile85Met)
NM_016599.5(MYOZ2):c.272A>G (p.Lys91Arg)
NM_016599.5(MYOZ2):c.295G>A (p.Gly99Ser)
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.328A>T (p.Asn110Tyr)
NM_016599.5(MYOZ2):c.331A>G (p.Thr111Ala)
NM_016599.5(MYOZ2):c.362A>G (p.Asp121Gly)
NM_016599.5(MYOZ2):c.383C>G (p.Ser128Cys)
NM_016599.5(MYOZ2):c.383C>T (p.Ser128Phe)
NM_016599.5(MYOZ2):c.386G>A (p.Gly129Glu)
NM_016599.5(MYOZ2):c.517C>A (p.Pro173Thr)
NM_016599.5(MYOZ2):c.561-5C>T
NM_016599.5(MYOZ2):c.57G>A (p.Met19Ile)
NM_016599.5(MYOZ2):c.592G>T (p.Ala198Ser)
NM_016599.5(MYOZ2):c.673C>A (p.Pro225Thr)
NM_016599.5(MYOZ2):c.702G>C (p.Arg234Ser)
NM_016599.5(MYOZ2):c.711G>C (p.Lys237Asn)
NM_016599.5(MYOZ2):c.718A>G (p.Ile240Val) rs1064796685
NM_016599.5(MYOZ2):c.737T>C (p.Ile246Thr)
NM_016599.5(MYOZ2):c.748A>C (p.Thr250Pro)
NM_016599.5(MYOZ2):c.767C>G (p.Thr256Ser)
NM_016599.5(MYOZ2):c.790C>G (p.Leu264Val)
NM_016599.5(MYOZ2):c.88A>G (p.Met30Val)
NM_016938.5(EFEMP2):c.1024T>C (p.Ser342Pro)
NM_016938.5(EFEMP2):c.1036C>T (p.Arg346Cys)
NM_016938.5(EFEMP2):c.1043T>A (p.Met348Lys)
NM_016938.5(EFEMP2):c.106T>C (p.Tyr36His)
NM_016938.5(EFEMP2):c.1072G>A (p.Ala358Thr)
NM_016938.5(EFEMP2):c.1078G>A (p.Val360Met)
NM_016938.5(EFEMP2):c.1153G>A (p.Gly385Arg)
NM_016938.5(EFEMP2):c.1165A>C (p.Ile389Leu)
NM_016938.5(EFEMP2):c.1177AAC[1] (p.Asn394del)
NM_016938.5(EFEMP2):c.1183G>T (p.Val395Phe)
NM_016938.5(EFEMP2):c.1192A>C (p.Met398Leu)
NM_016938.5(EFEMP2):c.1211C>G (p.Pro404Arg)
NM_016938.5(EFEMP2):c.1213G>C (p.Val405Leu)
NM_016938.5(EFEMP2):c.1280G>A (p.Arg427Gln)
NM_016938.5(EFEMP2):c.1289C>A (p.Ser430Tyr)
NM_016938.5(EFEMP2):c.1325C>A (p.Thr442Asn)
NM_016938.5(EFEMP2):c.185C>T (p.Pro62Leu)
NM_016938.5(EFEMP2):c.20G>T (p.Cys7Phe)
NM_016938.5(EFEMP2):c.223T>C (p.Tyr75His)
NM_016938.5(EFEMP2):c.256G>A (p.Ala86Thr)
NM_016938.5(EFEMP2):c.290C>A (p.Pro97Gln)
NM_016938.5(EFEMP2):c.305C>T (p.Pro102Leu)
NM_016938.5(EFEMP2):c.311A>G (p.Gln104Arg)
NM_016938.5(EFEMP2):c.315C>G (p.His105Gln)
NM_016938.5(EFEMP2):c.348C>A (p.Asp116Glu) rs376350227
NM_016938.5(EFEMP2):c.454C>G (p.Pro152Ala)
NM_016938.5(EFEMP2):c.455C>A (p.Pro152His)
NM_016938.5(EFEMP2):c.466C>T (p.Arg156Cys)
NM_016938.5(EFEMP2):c.467G>A (p.Arg156His)
NM_016938.5(EFEMP2):c.493A>G (p.Ile165Val) rs1859941615
NM_016938.5(EFEMP2):c.506G>T (p.Arg169Leu)
NM_016938.5(EFEMP2):c.511C>T (p.Arg171Cys)
NM_016938.5(EFEMP2):c.527G>A (p.Arg176His) rs772504760
NM_016938.5(EFEMP2):c.548C>T (p.Ser183Phe)
NM_016938.5(EFEMP2):c.553C>T (p.Arg185Cys)
NM_016938.5(EFEMP2):c.635C>T (p.Pro212Leu)
NM_016938.5(EFEMP2):c.645G>T (p.Gln215His)
NM_016938.5(EFEMP2):c.647G>A (p.Arg216His)
NM_016938.5(EFEMP2):c.655A>G (p.Asn219Asp)
NM_016938.5(EFEMP2):c.68G>A (p.Gly23Glu)
NM_016938.5(EFEMP2):c.706C>T (p.Arg236Trp)
NM_016938.5(EFEMP2):c.726T>G (p.Ser242Arg)
NM_016938.5(EFEMP2):c.730A>G (p.Ile244Val)
NM_016938.5(EFEMP2):c.769C>T (p.Arg257Cys)
NM_016938.5(EFEMP2):c.773G>A (p.Cys258Tyr)
NM_016938.5(EFEMP2):c.77C>T (p.Ser26Phe)
NM_016938.5(EFEMP2):c.872C>G (p.Ala291Gly) rs753778921
NM_016938.5(EFEMP2):c.923G>A (p.Arg308His)
NM_016938.5(EFEMP2):c.937_939delinsGAT (p.Asn313Asp)
NM_016938.5(EFEMP2):c.964G>T (p.Val322Phe) rs759573856
NM_017617.5(NOTCH1):c.7311G>T (p.Glu2437Asp) rs886039031
NM_017636.4(TRPM4):c.1000C>T (p.Arg334Ter)
NM_017636.4(TRPM4):c.1009C>T (p.Arg337Cys) rs368950027
NM_017636.4(TRPM4):c.1045G>T (p.Ala349Ser)
NM_017636.4(TRPM4):c.1051G>A (p.Val351Met) rs761344945
NM_017636.4(TRPM4):c.1085C>T (p.Thr362Ile)
NM_017636.4(TRPM4):c.1120G>A (p.Glu374Lys)
NM_017636.4(TRPM4):c.1120G>C (p.Glu374Gln)
NM_017636.4(TRPM4):c.1141C>T (p.Leu381Phe)
NM_017636.4(TRPM4):c.116G>A (p.Arg39His)
NM_017636.4(TRPM4):c.1180C>G (p.Leu394Val)
NM_017636.4(TRPM4):c.1212C>A (p.Asn404Lys) rs755499876
NM_017636.4(TRPM4):c.1214G>C (p.Arg405Pro)
NM_017636.4(TRPM4):c.1249del (p.Asp417fs) rs750295454
NM_017636.4(TRPM4):c.124A>G (p.Thr42Ala)
NM_017636.4(TRPM4):c.1311dup (p.Pro438fs) rs755946769
NM_017636.4(TRPM4):c.1362C>A (p.Phe454Leu)
NM_017636.4(TRPM4):c.1400C>T (p.Ala467Val)
NM_017636.4(TRPM4):c.1418T>C (p.Ile473Thr)
NM_017636.4(TRPM4):c.145A>C (p.Met49Leu)
NM_017636.4(TRPM4):c.1491G>T (p.Glu497Asp)
NM_017636.4(TRPM4):c.1492C>T (p.Leu498Phe)
NM_017636.4(TRPM4):c.1507G>C (p.Val503Leu)
NM_017636.4(TRPM4):c.1526T>C (p.Met509Thr)
NM_017636.4(TRPM4):c.1532T>A (p.Leu511Gln) rs200508171
NM_017636.4(TRPM4):c.1541T>C (p.Met514Thr)
NM_017636.4(TRPM4):c.1550C>T (p.Pro517Leu)
NM_017636.4(TRPM4):c.1553G>A (p.Arg518Lys)
NM_017636.4(TRPM4):c.1559C>G (p.Pro520Arg)
NM_017636.4(TRPM4):c.1570G>C (p.Ala524Pro) rs898326272
NM_017636.4(TRPM4):c.1574G>A (p.Trp525Ter)
NM_017636.4(TRPM4):c.1586C>A (p.Pro529Gln)
NM_017636.4(TRPM4):c.1601_1605dup (p.Ser536fs)
NM_017636.4(TRPM4):c.1608C>G (p.Ser536Arg)
NM_017636.4(TRPM4):c.160G>A (p.Gly54Arg)
NM_017636.4(TRPM4):c.1611G>C (p.Met537Ile)
NM_017636.4(TRPM4):c.1626C>G (p.Asp542Glu)
NM_017636.4(TRPM4):c.1630G>T (p.Ala544Ser)
NM_017636.4(TRPM4):c.1636T>C (p.Ser546Pro)
NM_017636.4(TRPM4):c.1639C>T (p.Pro547Ser)
NM_017636.4(TRPM4):c.1654G>A (p.Ala552Thr)
NM_017636.4(TRPM4):c.1655C>G (p.Ala552Gly)
NM_017636.4(TRPM4):c.1687CTT[3] (p.Leu564dup) rs772690187
NM_017636.4(TRPM4):c.1715C>A (p.Ala572Glu)
NM_017636.4(TRPM4):c.1744-3C>T
NM_017636.4(TRPM4):c.1744G>C (p.Gly582Arg)
NM_017636.4(TRPM4):c.1759T>A (p.Ser587Thr)
NM_017636.4(TRPM4):c.1771G>C (p.Gly591Arg)
NM_017636.4(TRPM4):c.1774G>A (p.Ala592Thr)
NM_017636.4(TRPM4):c.1797G>T (p.Met599Ile)
NM_017636.4(TRPM4):c.1809G>T (p.Glu603Asp)
NM_017636.4(TRPM4):c.1841A>T (p.Asp614Val)
NM_017636.4(TRPM4):c.1870G>A (p.Val624Ile)
NM_017636.4(TRPM4):c.1873+3G>T rs779988026
NM_017636.4(TRPM4):c.1875C>G (p.Asp625Glu)
NM_017636.4(TRPM4):c.1898G>A (p.Ser633Asn)
NM_017636.4(TRPM4):c.18G>C (p.Lys6Asn)
NM_017636.4(TRPM4):c.1912G>A (p.Ala638Thr)
NM_017636.4(TRPM4):c.1918C>T (p.Arg640Cys)
NM_017636.4(TRPM4):c.1919G>A (p.Arg640His)
NM_017636.4(TRPM4):c.1940C>T (p.Pro647Leu) rs201329004
NM_017636.4(TRPM4):c.1946G>T (p.Trp649Leu)
NM_017636.4(TRPM4):c.1991G>T (p.Arg664Leu)
NM_017636.4(TRPM4):c.1994C>A (p.Ala665Asp)
NM_017636.4(TRPM4):c.1994C>T (p.Ala665Val)
NM_017636.4(TRPM4):c.1A>C (p.Met1Leu)
NM_017636.4(TRPM4):c.2006A>G (p.Gln669Arg)
NM_017636.4(TRPM4):c.2020-5C>A
NM_017636.4(TRPM4):c.2043G>A (p.Trp681Ter)
NM_017636.4(TRPM4):c.2098C>A (p.Pro700Thr)
NM_017636.4(TRPM4):c.2098C>T (p.Pro700Ser)
NM_017636.4(TRPM4):c.2111A>G (p.Tyr704Cys)
NM_017636.4(TRPM4):c.2132+5G>T
NM_017636.4(TRPM4):c.2133-5G>A rs762827140
NM_017636.4(TRPM4):c.2144del (p.Glu715fs)
NM_017636.4(TRPM4):c.2145G>C (p.Glu715Asp)
NM_017636.4(TRPM4):c.2148G>T (p.Glu716Asp)
NM_017636.4(TRPM4):c.2153C>G (p.Thr718Arg)
NM_017636.4(TRPM4):c.2173G>C (p.Asp725His)
NM_017636.4(TRPM4):c.2203C>G (p.Pro735Ala)
NM_017636.4(TRPM4):c.2211-5C>T
NM_017636.4(TRPM4):c.2216C>T (p.Ala739Val) rs550934129
NM_017636.4(TRPM4):c.2222C>G (p.Pro741Arg)
NM_017636.4(TRPM4):c.2227G>C (p.Glu743Gln) rs2123040780
NM_017636.4(TRPM4):c.2245G>A (p.Val749Ile)
NM_017636.4(TRPM4):c.2263C>T (p.Arg755Cys)
NM_017636.4(TRPM4):c.226G>A (p.Gly76Arg)
NM_017636.4(TRPM4):c.2295dup (p.Arg766fs) rs748307155
NM_017636.4(TRPM4):c.2303G>T (p.Cys768Phe)
NM_017636.4(TRPM4):c.2309G>T (p.Arg770Leu)
NM_017636.4(TRPM4):c.2317T>C (p.Phe773Leu)
NM_017636.4(TRPM4):c.2332G>T (p.Ala778Ser)
NM_017636.4(TRPM4):c.2333C>T (p.Ala778Val)
NM_017636.4(TRPM4):c.2353G>A (p.Gly785Ser)
NM_017636.4(TRPM4):c.2365A>G (p.Ser789Gly)
NM_017636.4(TRPM4):c.236A>G (p.Asp79Gly)
NM_017636.4(TRPM4):c.2374C>A (p.Leu792Met)
NM_017636.4(TRPM4):c.2420C>A (p.Pro807Gln)
NM_017636.4(TRPM4):c.2425C>T (p.Pro809Ser)
NM_017636.4(TRPM4):c.2432G>C (p.Gly811Ala) rs1968657075
NM_017636.4(TRPM4):c.2438T>C (p.Leu813Pro)
NM_017636.4(TRPM4):c.2438T>G (p.Leu813Arg)
NM_017636.4(TRPM4):c.2446C>A (p.Leu816Met) rs544807596
NM_017636.4(TRPM4):c.2479G>A (p.Glu827Lys) rs1359936280
NM_017636.4(TRPM4):c.247del (p.Ala83fs)
NM_017636.4(TRPM4):c.247dup (p.Ala83fs) rs754625848
NM_017636.4(TRPM4):c.2489G>T (p.Arg830Leu)
NM_017636.4(TRPM4):c.2502C>A (p.Ser834Arg)
NM_017636.4(TRPM4):c.250G>T (p.Gly84Cys)
NM_017636.4(TRPM4):c.2512G>A (p.Gly838Ser)
NM_017636.4(TRPM4):c.2513del (p.Gly838fs) rs747536688
NM_017636.4(TRPM4):c.2513dup (p.Ser839fs) rs747536688
NM_017636.4(TRPM4):c.2515_2532del (p.Ser839_Gly844del)
NM_017636.4(TRPM4):c.2533C>G (p.Pro845Ala)
NM_017636.4(TRPM4):c.2542G>C (p.Gly848Arg)
NM_017636.4(TRPM4):c.2584G>A (p.Asp862Asn)
NM_017636.4(TRPM4):c.2587A>G (p.Ser863Gly)
NM_017636.4(TRPM4):c.2596del (p.Gln866fs)
NM_017636.4(TRPM4):c.2612C>G (p.Ala871Gly)
NM_017636.4(TRPM4):c.2621G>A (p.Cys874Tyr)
NM_017636.4(TRPM4):c.2645+1G>A rs1568485293
NM_017636.4(TRPM4):c.2657G>T (p.Gly886Val)
NM_017636.4(TRPM4):c.2665del (p.His889fs) rs777047595
NM_017636.4(TRPM4):c.2689A>G (p.Ile897Val)
NM_017636.4(TRPM4):c.2708C>T (p.Thr903Met)
NM_017636.4(TRPM4):c.2717T>C (p.Leu906Pro)
NM_017636.4(TRPM4):c.2734G>A (p.Val912Ile) rs1968869813
NM_017636.4(TRPM4):c.2758A>C (p.Ile920Leu)
NM_017636.4(TRPM4):c.2766C>A (p.Ile922=) rs774680517
NM_017636.4(TRPM4):c.2767G>A (p.Val923Met) rs759518981
NM_017636.4(TRPM4):c.2767G>C (p.Val923Leu)
NM_017636.4(TRPM4):c.2778+2T>C
NM_017636.4(TRPM4):c.2780T>A (p.Met927Lys)
NM_017636.4(TRPM4):c.2790_2801del (p.Phe933_Phe936del)
NM_017636.4(TRPM4):c.2791TTC[2] (p.Phe933del) rs753722479
NM_017636.4(TRPM4):c.2803TTC[1] (p.Phe936del)
NM_017636.4(TRPM4):c.2805C>T (p.Phe935=)
NM_017636.4(TRPM4):c.2806T>A (p.Phe936Ile) rs1421769946
NM_017636.4(TRPM4):c.2824G>A (p.Val942Ile)
NM_017636.4(TRPM4):c.2827G>A (p.Ala943Thr)
NM_017636.4(TRPM4):c.2828C>A (p.Ala943Asp)
NM_017636.4(TRPM4):c.2829_2843del (p.Tyr944_Thr948del)
NM_017636.4(TRPM4):c.2830T>A (p.Tyr944Asn)
NM_017636.4(TRPM4):c.2882G>A (p.Ser961Asn)
NM_017636.4(TRPM4):c.2894G>A (p.Arg965His) rs150452571
NM_017636.4(TRPM4):c.2906G>T (p.Arg969Leu)
NM_017636.4(TRPM4):c.294T>A (p.Asp98Glu) rs940653559
NM_017636.4(TRPM4):c.2953+1G>A
NM_017636.4(TRPM4):c.2953+5G>A
NM_017636.4(TRPM4):c.2956G>A (p.Ala986Thr)
NM_017636.4(TRPM4):c.2977T>C (p.Cys993Arg)
NM_017636.4(TRPM4):c.2978G>T (p.Cys993Phe) rs1555763492
NM_017636.4(TRPM4):c.298G>T (p.Ala100Ser) rs1967287181
NM_017636.4(TRPM4):c.2990C>A (p.Pro997His)
NM_017636.4(TRPM4):c.299C>A (p.Ala100Asp) rs746695564
NM_017636.4(TRPM4):c.3004C>T (p.His1002Tyr)
NM_017636.4(TRPM4):c.3016del (p.Ala1006fs)
NM_017636.4(TRPM4):c.3031dup (p.Cys1011fs) rs752891976
NM_017636.4(TRPM4):c.3042G>C (p.Gln1014His)
NM_017636.4(TRPM4):c.3047C>T (p.Ala1016Val)
NM_017636.4(TRPM4):c.3076A>C (p.Ile1026Leu) rs1211638624
NM_017636.4(TRPM4):c.3088G>A (p.Val1030Met)
NM_017636.4(TRPM4):c.3126G>A (p.Met1042Ile)
NM_017636.4(TRPM4):c.3131+1G>T
NM_017636.4(TRPM4):c.3148G>A (p.Val1050Ile)
NM_017636.4(TRPM4):c.3149T>C (p.Val1050Ala)
NM_017636.4(TRPM4):c.3164A>G (p.Asp1055Gly)
NM_017636.4(TRPM4):c.3199C>T (p.Arg1067Trp)
NM_017636.4(TRPM4):c.31A>G (p.Ile11Val)
NM_017636.4(TRPM4):c.3216_3217delinsA (p.Ala1074fs)
NM_017636.4(TRPM4):c.3217C>A (p.Pro1073Thr)
NM_017636.4(TRPM4):c.3221C>T (p.Ala1074Val)
NM_017636.4(TRPM4):c.3224T>G (p.Leu1075Arg) rs144421653
NM_017636.4(TRPM4):c.323G>T (p.Arg108Leu)
NM_017636.4(TRPM4):c.3254T>G (p.Leu1085Trp)
NM_017636.4(TRPM4):c.3260T>C (p.Leu1087Pro) rs756423415
NM_017636.4(TRPM4):c.3265C>T (p.Leu1089Phe)
NM_017636.4(TRPM4):c.326C>G (p.Thr109Arg)
NM_017636.4(TRPM4):c.326C>T (p.Thr109Ile)
NM_017636.4(TRPM4):c.3293G>A (p.Ser1098Asn)
NM_017636.4(TRPM4):c.3293G>T (p.Ser1098Ile)
NM_017636.4(TRPM4):c.3301C>A (p.Pro1101Thr)
NM_017636.4(TRPM4):c.3308C>T (p.Ser1103Phe)
NM_017636.4(TRPM4):c.3314C>T (p.Ala1105Val)
NM_017636.4(TRPM4):c.3329-3C>T
NM_017636.4(TRPM4):c.332G>A (p.Gly111Asp)
NM_017636.4(TRPM4):c.3339_3342del (p.Ser1114fs) rs1054561100
NM_017636.4(TRPM4):c.3349G>T (p.Ala1117Ser)
NM_017636.4(TRPM4):c.3352G>T (p.Glu1118Ter) rs999232875
NM_017636.4(TRPM4):c.3368C>A (p.Thr1123Lys)
NM_017636.4(TRPM4):c.3391A>G (p.Asn1131Asp)
NM_017636.4(TRPM4):c.3403G>C (p.Ala1135Pro)
NM_017636.4(TRPM4):c.3416_3417delinsGA (p.Asp1139Gly)
NM_017636.4(TRPM4):c.3419A>T (p.Lys1140Met) rs1060502508
NM_017636.4(TRPM4):c.343C>T (p.Pro115Ser)
NM_017636.4(TRPM4):c.344del (p.Pro115fs) rs777609699
NM_017636.4(TRPM4):c.3496C>G (p.Arg1166Gly)
NM_017636.4(TRPM4):c.3512G>T (p.Arg1171Leu) rs762615860
NM_017636.4(TRPM4):c.3527A>C (p.Glu1176Ala)
NM_017636.4(TRPM4):c.3529C>G (p.Arg1177Gly)
NM_017636.4(TRPM4):c.3535-2A>C
NM_017636.4(TRPM4):c.3550C>A (p.Arg1184Ser)
NM_017636.4(TRPM4):c.3568G>A (p.Ala1190Thr) rs1163408519
NM_017636.4(TRPM4):c.3574G>T (p.Ala1192Ser) rs2146000247
NM_017636.4(TRPM4):c.3584G>C (p.Arg1195Pro)
NM_017636.4(TRPM4):c.3586T>A (p.Ser1196Thr)
NM_017636.4(TRPM4):c.3596T>C (p.Leu1199Pro)
NM_017636.4(TRPM4):c.359C>T (p.Ser120Leu) rs1371723074
NM_017636.4(TRPM4):c.3607G>A (p.Gly1203Arg) rs916697392
NM_017636.4(TRPM4):c.3621_3624dup (p.Leu1209Ter)
NM_017636.4(TRPM4):c.3621del (p.Asp1208fs)
NM_017636.4(TRPM4):c.379G>C (p.Gly127Arg)
NM_017636.4(TRPM4):c.395C>G (p.Thr132Ser) rs1008036777
NM_017636.4(TRPM4):c.3G>C (p.Met1Ile)
NM_017636.4(TRPM4):c.408C>A (p.Asp136Glu)
NM_017636.4(TRPM4):c.427G>C (p.Val143Leu)
NM_017636.4(TRPM4):c.430C>T (p.Arg144Trp)
NM_017636.4(TRPM4):c.479C>T (p.Thr160Met)
NM_017636.4(TRPM4):c.505G>A (p.Ala169Thr)
NM_017636.4(TRPM4):c.508G>A (p.Val170Ile)
NM_017636.4(TRPM4):c.575G>T (p.Gly192Val)
NM_017636.4(TRPM4):c.584G>A (p.Arg195Gln)
NM_017636.4(TRPM4):c.596C>A (p.Thr199Asn)
NM_017636.4(TRPM4):c.623del (p.Pro208fs) rs770203558
NM_017636.4(TRPM4):c.626C>T (p.Ala209Val)
NM_017636.4(TRPM4):c.641G>T (p.Arg214Leu)
NM_017636.4(TRPM4):c.643G>A (p.Gly215Ser)
NM_017636.4(TRPM4):c.648C>A (p.Asp216Glu)
NM_017636.4(TRPM4):c.667T>C (p.Phe223Leu)
NM_017636.4(TRPM4):c.671C>T (p.Pro224Leu)
NM_017636.4(TRPM4):c.733G>A (p.Gly245Ser)
NM_017636.4(TRPM4):c.734G>A (p.Gly245Asp)
NM_017636.4(TRPM4):c.734dup (p.Glu246fs)
NM_017636.4(TRPM4):c.736G>A (p.Glu246Lys)
NM_017636.4(TRPM4):c.764C>T (p.Ser255Phe)
NM_017636.4(TRPM4):c.785C>T (p.Thr262Met)
NM_017636.4(TRPM4):c.827T>C (p.Leu276Pro)
NM_017636.4(TRPM4):c.830T>C (p.Leu277Pro)
NM_017636.4(TRPM4):c.859-4G>A rs2122833532
NM_017636.4(TRPM4):c.859C>T (p.Arg287Ter)
NM_017636.4(TRPM4):c.860G>T (p.Arg287Leu) rs200707657
NM_017636.4(TRPM4):c.901G>A (p.Val301Met)
NM_017636.4(TRPM4):c.910T>A (p.Ser304Thr)
NM_017636.4(TRPM4):c.946G>A (p.Glu316Lys)
NM_017636.4(TRPM4):c.94G>A (p.Gly32Arg)
NM_017636.4(TRPM4):c.977C>T (p.Ala326Val)
NM_017946.4(FKBP14):c.133G>T (p.Gly45Trp)
NM_017946.4(FKBP14):c.134G>A (p.Gly45Glu)
NM_017946.4(FKBP14):c.16T>C (p.Trp6Arg)
NM_017946.4(FKBP14):c.206A>G (p.His69Arg) rs564539430
NM_017946.4(FKBP14):c.215G>A (p.Gly72Asp)
NM_017946.4(FKBP14):c.223A>G (p.Ile75Val)
NM_017946.4(FKBP14):c.257A>G (p.Lys86Arg) rs543492611
NM_017946.4(FKBP14):c.265G>A (p.Asp89Asn)
NM_017946.4(FKBP14):c.329G>T (p.Gly110Val)
NM_017946.4(FKBP14):c.365A>G (p.Glu122Gly)
NM_017946.4(FKBP14):c.424G>C (p.Glu142Gln)
NM_017946.4(FKBP14):c.445C>T (p.Leu149Phe)
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del) rs542254849
NM_017946.4(FKBP14):c.512A>G (p.His171Arg)
NM_017946.4(FKBP14):c.52A>T (p.Ile18Phe)
NM_017946.4(FKBP14):c.537T>A (p.His179Gln)
NM_017946.4(FKBP14):c.556G>A (p.Asp186Asn)
NM_017946.4(FKBP14):c.560T>G (p.Ile187Ser) rs773564727
NM_017946.4(FKBP14):c.589G>A (p.Gly197Arg)
NM_018699.4(PRDM5):c.1003C>G (p.Leu335Val)
NM_018699.4(PRDM5):c.1010G>A (p.Arg337His)
NM_018699.4(PRDM5):c.1013A>G (p.His338Arg)
NM_018699.4(PRDM5):c.1034A>C (p.Lys345Thr)
NM_018699.4(PRDM5):c.1037G>A (p.Arg346Gln)
NM_018699.4(PRDM5):c.103T>C (p.Phe35Leu)
NM_018699.4(PRDM5):c.106G>C (p.Gly36Arg)
NM_018699.4(PRDM5):c.1072A>G (p.Lys358Glu)
NM_018699.4(PRDM5):c.1091G>T (p.Gly364Val)
NM_018699.4(PRDM5):c.1121A>G (p.Lys374Arg)
NM_018699.4(PRDM5):c.1151G>T (p.Gly384Val)
NM_018699.4(PRDM5):c.1165A>C (p.Asn389His)
NM_018699.4(PRDM5):c.1180C>T (p.His394Tyr)
NM_018699.4(PRDM5):c.1189A>G (p.Thr397Ala)
NM_018699.4(PRDM5):c.1208C>T (p.Pro403Leu)
NM_018699.4(PRDM5):c.1212C>G (p.Phe404Leu)
NM_018699.4(PRDM5):c.1226G>A (p.Cys409Tyr)
NM_018699.4(PRDM5):c.1241G>A (p.Arg414Gln)
NM_018699.4(PRDM5):c.1241G>T (p.Arg414Leu) rs753113187
NM_018699.4(PRDM5):c.1262G>A (p.Arg421Lys)
NM_018699.4(PRDM5):c.12G>T (p.Met4Ile)
NM_018699.4(PRDM5):c.1312G>T (p.Asp438Tyr)
NM_018699.4(PRDM5):c.1332G>C (p.Lys444Asn)
NM_018699.4(PRDM5):c.1351G>A (p.Val451Ile)
NM_018699.4(PRDM5):c.1360G>A (p.Val454Ile)
NM_018699.4(PRDM5):c.1392G>T (p.Glu464Asp)
NM_018699.4(PRDM5):c.1411G>A (p.Val471Ile)
NM_018699.4(PRDM5):c.1443+5G>A
NM_018699.4(PRDM5):c.1477T>C (p.Tyr493His)
NM_018699.4(PRDM5):c.1516G>A (p.Val506Ile)
NM_018699.4(PRDM5):c.1526G>A (p.Arg509Gln)
NM_018699.4(PRDM5):c.1538G>A (p.Gly513Asp)
NM_018699.4(PRDM5):c.1609C>T (p.Arg537Cys)
NM_018699.4(PRDM5):c.1610G>A (p.Arg537His)
NM_018699.4(PRDM5):c.1631C>G (p.Pro544Arg)
NM_018699.4(PRDM5):c.1634A>T (p.Tyr545Phe)
NM_018699.4(PRDM5):c.164G>C (p.Arg55Thr)
NM_018699.4(PRDM5):c.166T>A (p.Leu56Met)
NM_018699.4(PRDM5):c.1697C>T (p.Thr566Met)
NM_018699.4(PRDM5):c.1703C>A (p.Thr568Asn)
NM_018699.4(PRDM5):c.171G>A (p.Met57Ile)
NM_018699.4(PRDM5):c.1725T>G (p.Cys575Trp)
NM_018699.4(PRDM5):c.1751T>A (p.Leu584Gln)
NM_018699.4(PRDM5):c.1804G>A (p.Ala602Thr)
NM_018699.4(PRDM5):c.1862T>C (p.Met621Thr)
NM_018699.4(PRDM5):c.1874A>G (p.His625Arg)
NM_018699.4(PRDM5):c.253G>A (p.Val85Ile)
NM_018699.4(PRDM5):c.295A>G (p.Ile99Val)
NM_018699.4(PRDM5):c.385G>C (p.Glu129Gln)
NM_018699.4(PRDM5):c.386A>C (p.Glu129Ala)
NM_018699.4(PRDM5):c.386A>G (p.Glu129Gly)
NM_018699.4(PRDM5):c.403C>A (p.Gln135Lys)
NM_018699.4(PRDM5):c.412A>G (p.Met138Val)
NM_018699.4(PRDM5):c.466G>A (p.Gly156Ser)
NM_018699.4(PRDM5):c.498C>G (p.Asp166Glu)
NM_018699.4(PRDM5):c.530C>G (p.Thr177Ser)
NM_018699.4(PRDM5):c.58G>C (p.Gly20Arg)
NM_018699.4(PRDM5):c.592G>C (p.Glu198Gln) rs886059043
NM_018699.4(PRDM5):c.62T>G (p.Met21Arg)
NM_018699.4(PRDM5):c.650+4C>T
NM_018699.4(PRDM5):c.655C>T (p.Leu219Phe)
NM_018699.4(PRDM5):c.689C>T (p.Ser230Phe)
NM_018699.4(PRDM5):c.757C>A (p.Gln253Lys)
NM_018699.4(PRDM5):c.769C>T (p.Arg257Trp)
NM_018699.4(PRDM5):c.76G>A (p.Ala26Thr)
NM_018699.4(PRDM5):c.783G>T (p.Arg261Ser)
NM_018699.4(PRDM5):c.793A>G (p.Lys265Glu)
NM_018699.4(PRDM5):c.7G>T (p.Gly3Cys)
NM_018699.4(PRDM5):c.808G>A (p.Gly270Arg)
NM_018699.4(PRDM5):c.815G>C (p.Arg272Thr)
NM_018699.4(PRDM5):c.830A>C (p.Asp277Ala)
NM_018699.4(PRDM5):c.832G>A (p.Ala278Thr)
NM_018699.4(PRDM5):c.884T>C (p.Leu295Pro)
NM_018699.4(PRDM5):c.898T>C (p.Cys300Arg)
NM_018699.4(PRDM5):c.898T>G (p.Cys300Gly)
NM_020297.4(ABCC9):c.-4A>G
NM_020297.4(ABCC9):c.1012-2A>C
NM_020297.4(ABCC9):c.1012delA (p.Ile338fs)
NM_020297.4(ABCC9):c.1043T>G (p.Leu348Arg) rs876661339
NM_020297.4(ABCC9):c.1118A>T (p.Tyr373Phe)
NM_020297.4(ABCC9):c.1213A>G (p.Met405Val)
NM_020297.4(ABCC9):c.1256T>C (p.Ile419Thr) rs1186163590
NM_020297.4(ABCC9):c.1390G>T (p.Val464Leu)
NM_020297.4(ABCC9):c.142+2T>C
NM_020297.4(ABCC9):c.1455+1G>A
NM_020297.4(ABCC9):c.146G>A (p.Trp49Ter)
NM_020297.4(ABCC9):c.146G>T (p.Trp49Leu)
NM_020297.4(ABCC9):c.1592C>G (p.Thr531Ser)
NM_020297.4(ABCC9):c.1680T>G (p.Tyr560Ter) rs1326389765
NM_020297.4(ABCC9):c.1769C>T (p.Thr590Met)
NM_020297.4(ABCC9):c.1802G>T (p.Ser601Ile)
NM_020297.4(ABCC9):c.1955T>G (p.Leu652Arg)
NM_020297.4(ABCC9):c.1963T>A (p.Tyr655Asn)
NM_020297.4(ABCC9):c.2014A>G (p.Ile672Val)
NM_020297.4(ABCC9):c.2033A>T (p.Tyr678Phe)
NM_020297.4(ABCC9):c.2048G>A (p.Ser683Asn)
NM_020297.4(ABCC9):c.2137T>C (p.Ser713Pro)
NM_020297.4(ABCC9):c.2215C>A (p.Pro739Thr)
NM_020297.4(ABCC9):c.2238-5T>C
NM_020297.4(ABCC9):c.2244C>T (p.Asn748=)
NM_020297.4(ABCC9):c.2245A>T (p.Arg749Trp) rs755331988
NM_020297.4(ABCC9):c.2285T>G (p.Leu762Ter) rs1555192419
NM_020297.4(ABCC9):c.232G>A (p.Ala78Thr)
NM_020297.4(ABCC9):c.2363G>A (p.Cys788Tyr)
NM_020297.4(ABCC9):c.2363G>T (p.Cys788Phe)
NM_020297.4(ABCC9):c.2375C>T (p.Pro792Leu)
NM_020297.4(ABCC9):c.2470C>T (p.Arg824Ter) rs779866340
NM_020297.4(ABCC9):c.2474C>A (p.Ala825Glu)
NM_020297.4(ABCC9):c.2495T>C (p.Ile832Thr) rs542818695
NM_020297.4(ABCC9):c.2505+4A>C
NM_020297.4(ABCC9):c.2530A>G (p.Ile844Val)
NM_020297.4(ABCC9):c.2556G>C (p.Gln852His)
NM_020297.4(ABCC9):c.2608A>T (p.Thr870Ser) rs1057521460
NM_020297.4(ABCC9):c.2653A>G (p.Met885Val)
NM_020297.4(ABCC9):c.2723A>G (p.Glu908Gly)
NM_020297.4(ABCC9):c.2768del (p.Lys923fs) rs775677708
NM_020297.4(ABCC9):c.2795T>G (p.Leu932Ter) rs1469919677
NM_020297.4(ABCC9):c.2818G>T (p.Ala940Ser) rs1373377020
NM_020297.4(ABCC9):c.2854G>A (p.Asp952Asn)
NM_020297.4(ABCC9):c.2863G>A (p.Glu955Lys) rs1452956891
NM_020297.4(ABCC9):c.2886T>G (p.Asp962Glu)
NM_020297.4(ABCC9):c.2898C>G (p.Asn966Lys)
NM_020297.4(ABCC9):c.2946C>G (p.Cys982Trp)
NM_020297.4(ABCC9):c.3004C>T (p.Leu1002Phe)
NM_020297.4(ABCC9):c.3031A>G (p.Ile1011Val)
NM_020297.4(ABCC9):c.3056_3059delinsT (p.Thr1019_Ser1020delinsMet)
NM_020297.4(ABCC9):c.3076A>G (p.Asn1026Asp) rs369389402
NM_020297.4(ABCC9):c.3131G>A (p.Gly1044Glu) rs1944562961
NM_020297.4(ABCC9):c.3328_3332delinsC (p.Thr1110fs)
NM_020297.4(ABCC9):c.3364C>G (p.Leu1122Val)
NM_020297.4(ABCC9):c.3470C>G (p.Ser1157Cys)
NM_020297.4(ABCC9):c.352T>C (p.Ser118Pro)
NM_020297.4(ABCC9):c.367C>T (p.His123Tyr)
NM_020297.4(ABCC9):c.3769dup (p.Thr1257fs)
NM_020297.4(ABCC9):c.382T>C (p.Ser128Pro)
NM_020297.4(ABCC9):c.38ATA[1] (p.Asn14del) rs1949498673
NM_020297.4(ABCC9):c.4015G>T (p.Gly1339Ter)
NM_020297.4(ABCC9):c.407-5T>C rs1948628627
NM_020297.4(ABCC9):c.4092T>A (p.Asp1364Glu)
NM_020297.4(ABCC9):c.4103-1G>A rs1189432427
NM_020297.4(ABCC9):c.4257G>C (p.Trp1419Cys)
NM_020297.4(ABCC9):c.4285A>T (p.Asn1429Tyr) rs1178982626
NM_020297.4(ABCC9):c.4317T>G (p.Asp1439Glu)
NM_020297.4(ABCC9):c.4357C>T (p.Gln1453Ter)
NM_020297.4(ABCC9):c.4393C>G (p.Arg1465Gly)
NM_020297.4(ABCC9):c.4512+732T>A
NM_020297.4(ABCC9):c.4512+733C>A
NM_020297.4(ABCC9):c.4512+743T>G
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.4512+777_4512+778delinsAA
NM_020297.4(ABCC9):c.496C>T (p.Arg166Cys)
NM_020297.4(ABCC9):c.4A>G (p.Ser2Gly) rs1485712335
NM_020297.4(ABCC9):c.511G>A (p.Gly171Ser)
NM_020297.4(ABCC9):c.632T>G (p.Leu211Arg)
NM_020297.4(ABCC9):c.639G>A (p.Val213=) rs1213285317
NM_020297.4(ABCC9):c.704T>C (p.Ile235Thr)
NM_020297.4(ABCC9):c.743T>C (p.Ile248Thr)
NM_020297.4(ABCC9):c.826G>A (p.Ala276Thr) rs201783967
NM_020297.4(ABCC9):c.872G>C (p.Arg291Thr)
NM_020297.4(ABCC9):c.990T>A (p.Asn330Lys)
NM_020433.5(JPH2):c.-4T>A
NM_020433.5(JPH2):c.1004A>G (p.His335Arg)
NM_020433.5(JPH2):c.1016G>A (p.Gly339Asp)
NM_020433.5(JPH2):c.101G>A (p.Gly34Asp)
NM_020433.5(JPH2):c.1022A>G (p.Tyr341Cys)
NM_020433.5(JPH2):c.1025G>A (p.Arg342His)
NM_020433.5(JPH2):c.1043A>G (p.Lys348Arg)
NM_020433.5(JPH2):c.1049C>A (p.Thr350Asn)
NM_020433.5(JPH2):c.1054C>T (p.Arg352Cys)
NM_020433.5(JPH2):c.1058G>A (p.Arg353His)
NM_020433.5(JPH2):c.1062G>C (p.Met354Ile) rs546800323
NM_020433.5(JPH2):c.1066C>T (p.Gln356Ter)
NM_020433.5(JPH2):c.1068G>T (p.Gln356His)
NM_020433.5(JPH2):c.1073A>G (p.Lys358Arg)
NM_020433.5(JPH2):c.107G>A (p.Gly36Asp)
NM_020433.5(JPH2):c.1081A>C (p.Lys361Gln)
NM_020433.5(JPH2):c.1081A>G (p.Lys361Glu)
NM_020433.5(JPH2):c.1087C>T (p.Arg363Cys)
NM_020433.5(JPH2):c.1088G>A (p.Arg363His) rs757549568
NM_020433.5(JPH2):c.1103A>G (p.His368Arg)
NM_020433.5(JPH2):c.1109T>C (p.Val370Ala)
NM_020433.5(JPH2):c.1115G>A (p.Gly372Asp)
NM_020433.5(JPH2):c.1139C>T (p.Ala380Val)
NM_020433.5(JPH2):c.1142G>A (p.Arg381His)
NM_020433.5(JPH2):c.1148_1156del (p.Lys383_Glu385del)
NM_020433.5(JPH2):c.1171A>G (p.Thr391Ala)
NM_020433.5(JPH2):c.1213G>A (p.Ala405Thr) rs557878787
NM_020433.5(JPH2):c.1213G>T (p.Ala405Ser) rs557878787
NM_020433.5(JPH2):c.1232A>C (p.Glu411Ala)
NM_020433.5(JPH2):c.1243G>T (p.Ala415Ser)
NM_020433.5(JPH2):c.1249A>G (p.Thr417Ala)
NM_020433.5(JPH2):c.1309C>T (p.Arg437Trp)
NM_020433.5(JPH2):c.1321G>A (p.Glu441Lys)
NM_020433.5(JPH2):c.1322A>T (p.Glu441Val)
NM_020433.5(JPH2):c.1324A>G (p.Ile442Val)
NM_020433.5(JPH2):c.1328T>C (p.Leu443Pro)
NM_020433.5(JPH2):c.1360G>A (p.Asp454Asn)
NM_020433.5(JPH2):c.1367G>A (p.Gly456Asp)
NM_020433.5(JPH2):c.1396C>T (p.Pro466Ser)
NM_020433.5(JPH2):c.1400G>A (p.Arg467His)
NM_020433.5(JPH2):c.1402G>A (p.Glu468Lys)
NM_020433.5(JPH2):c.1409C>T (p.Pro470Leu) rs1312283242
NM_020433.5(JPH2):c.1417C>T (p.His473Tyr)
NM_020433.5(JPH2):c.1438C>T (p.Pro480Ser)
NM_020433.5(JPH2):c.1441G>A (p.Glu481Lys)
NM_020433.5(JPH2):c.1460C>T (p.Pro487Leu)
NM_020433.5(JPH2):c.1477C>T (p.Gln493Ter) rs2072190444
NM_020433.5(JPH2):c.1487G>A (p.Arg496Gln) rs1404072085
NM_020433.5(JPH2):c.1550G>A (p.Ser517Asn)
NM_020433.5(JPH2):c.1551C>A (p.Ser517Arg) rs1295638660
NM_020433.5(JPH2):c.1552G>A (p.Gly518Ser)
NM_020433.5(JPH2):c.1598G>A (p.Arg533His)
NM_020433.5(JPH2):c.1603C>T (p.Pro535Ser) rs908217758
NM_020433.5(JPH2):c.1622A>G (p.Glu541Gly)
NM_020433.5(JPH2):c.1624C>T (p.Arg542Cys)
NM_020433.5(JPH2):c.1625G>A (p.Arg542His)
NM_020433.5(JPH2):c.1625G>T (p.Arg542Leu) rs369279135
NM_020433.5(JPH2):c.1648G>T (p.Ala550Ser)
NM_020433.5(JPH2):c.1655C>T (p.Pro552Leu) rs876657833
NM_020433.5(JPH2):c.1661C>T (p.Pro554Leu)
NM_020433.5(JPH2):c.1666C>G (p.Arg556Gly)
NM_020433.5(JPH2):c.1666C>T (p.Arg556Trp)
NM_020433.5(JPH2):c.1676A>C (p.Glu559Ala)
NM_020433.5(JPH2):c.1682C>T (p.Ala561Val)
NM_020433.5(JPH2):c.1689C>G (p.Tyr563Ter)
NM_020433.5(JPH2):c.1699dup (p.His567fs)
NM_020433.5(JPH2):c.1714C>T (p.Arg572Cys) rs377366285
NM_020433.5(JPH2):c.1724C>T (p.Pro575Leu) rs1310645221
NM_020433.5(JPH2):c.1736C>G (p.Pro579Arg)
NM_020433.5(JPH2):c.1754C>T (p.Pro585Leu)
NM_020433.5(JPH2):c.1756G>A (p.Glu586Lys)
NM_020433.5(JPH2):c.1759_1779dup (p.Pro587_Glu593dup) rs774773499
NM_020433.5(JPH2):c.1772_1777dup (p.Ser592_Glu593insGlySer)
NM_020433.5(JPH2):c.1778A>G (p.Glu593Gly) rs1569180881
NM_020433.5(JPH2):c.1796C>G (p.Pro599Arg)
NM_020433.5(JPH2):c.1796C>T (p.Pro599Leu)
NM_020433.5(JPH2):c.1799C>G (p.Ala600Gly) rs1555853297
NM_020433.5(JPH2):c.1804G>A (p.Ala602Thr)
NM_020433.5(JPH2):c.1813C>G (p.Gln605Glu)
NM_020433.5(JPH2):c.1823C>A (p.Thr608Lys) rs750776027
NM_020433.5(JPH2):c.1837G>A (p.Glu613Lys)
NM_020433.5(JPH2):c.1844C>T (p.Ala615Val)
NM_020433.5(JPH2):c.1853C>A (p.Thr618Asn)
NM_020433.5(JPH2):c.1861A>G (p.Lys621Glu)
NM_020433.5(JPH2):c.1900A>G (p.Arg634Gly)
NM_020433.5(JPH2):c.1903G>C (p.Ala635Pro) rs1409841420
NM_020433.5(JPH2):c.1924G>A (p.Ala642Thr)
NM_020433.5(JPH2):c.1928G>C (p.Arg643Pro)
NM_020433.5(JPH2):c.1937C>G (p.Thr646Ser) rs1600828763
NM_020433.5(JPH2):c.1951AAG[2] (p.Lys653del) rs111666278
NM_020433.5(JPH2):c.1958A>C (p.Lys653Thr)
NM_020433.5(JPH2):c.1961C>G (p.Ala654Gly)
NM_020433.5(JPH2):c.1964G>A (p.Arg655Gln) rs1569180563
NM_020433.5(JPH2):c.1982C>T (p.Ala661Val)
NM_020433.5(JPH2):c.1984G>T (p.Ala662Ser)
NM_020433.5(JPH2):c.1987G>C (p.Glu663Gln) rs886039170
NM_020433.5(JPH2):c.1990G>T (p.Ala664Ser)
NM_020433.5(JPH2):c.2010+5G>C
NM_020433.5(JPH2):c.2011G>A (p.Val671Ile)
NM_020433.5(JPH2):c.2015C>T (p.Pro672Leu)
NM_020433.5(JPH2):c.202A>C (p.Lys68Gln)
NM_020433.5(JPH2):c.2056G>A (p.Gly686Ser)
NM_020433.5(JPH2):c.205C>T (p.Arg69Trp)
NM_020433.5(JPH2):c.2073_2074inv (p.Val692Ile)
NM_020433.5(JPH2):c.2074G>A (p.Val692Ile)
NM_020433.5(JPH2):c.2078A>T (p.His693Leu)
NM_020433.5(JPH2):c.2083_2084del (p.Leu695fs)
NM_020433.5(JPH2):c.235C>A (p.Arg79Ser)
NM_020433.5(JPH2):c.23T>C (p.Phe8Ser) rs2072848592
NM_020433.5(JPH2):c.245A>G (p.Tyr82Cys) rs774330827
NM_020433.5(JPH2):c.253G>A (p.Glu85Lys)
NM_020433.5(JPH2):c.272A>G (p.Lys91Arg)
NM_020433.5(JPH2):c.283G>A (p.Gly95Arg)
NM_020433.5(JPH2):c.304A>T (p.Ser102Cys)
NM_020433.5(JPH2):c.307G>T (p.Gly103Cys)
NM_020433.5(JPH2):c.316T>C (p.Tyr106His)
NM_020433.5(JPH2):c.349_351del (p.Gly117del) rs1351653670
NM_020433.5(JPH2):c.350G>A (p.Gly117Asp) rs1289294595
NM_020433.5(JPH2):c.361G>A (p.Glu121Lys) rs1569226231
NM_020433.5(JPH2):c.363G>T (p.Glu121Asp)
NM_020433.5(JPH2):c.370G>A (p.Ala124Thr)
NM_020433.5(JPH2):c.373G>A (p.Asp125Asn)
NM_020433.5(JPH2):c.421T>A (p.Tyr141Asn)
NM_020433.5(JPH2):c.424G>T (p.Gly142Ter) rs765874503
NM_020433.5(JPH2):c.430C>T (p.Arg144Cys)
NM_020433.5(JPH2):c.431G>A (p.Arg144His) rs1167554487
NM_020433.5(JPH2):c.448G>C (p.Gly150Arg) rs1231304653
NM_020433.5(JPH2):c.464T>C (p.Val155Ala) rs2072601326
NM_020433.5(JPH2):c.470C>T (p.Ser157Leu)
NM_020433.5(JPH2):c.476T>A (p.Leu159Gln) rs886038834
NM_020433.5(JPH2):c.479G>A (p.Arg160His)
NM_020433.5(JPH2):c.499C>T (p.Arg167Cys)
NM_020433.5(JPH2):c.50G>T (p.Gly17Val)
NM_020433.5(JPH2):c.52T>A (p.Trp18Arg)
NM_020433.5(JPH2):c.547C>G (p.Pro183Ala)
NM_020433.5(JPH2):c.560G>A (p.Gly187Asp)
NM_020433.5(JPH2):c.57G>T (p.Glu19Asp)
NM_020433.5(JPH2):c.580G>T (p.Ala194Ser) rs914203878
NM_020433.5(JPH2):c.589C>T (p.Arg197Cys)
NM_020433.5(JPH2):c.58G>C (p.Gly20Arg)
NM_020433.5(JPH2):c.58G>T (p.Gly20Trp)
NM_020433.5(JPH2):c.590G>T (p.Arg197Leu) rs1258920337
NM_020433.5(JPH2):c.591_593dup (p.Gly199_Phe200insGly)
NM_020433.5(JPH2):c.595G>A (p.Gly199Ser)
NM_020433.5(JPH2):c.599T>C (p.Phe200Ser)
NM_020433.5(JPH2):c.629C>A (p.Ala210Glu)
NM_020433.5(JPH2):c.632C>T (p.Ala211Val)
NM_020433.5(JPH2):c.643C>G (p.Pro215Ala)
NM_020433.5(JPH2):c.649G>A (p.Gly217Ser) rs1346458604
NM_020433.5(JPH2):c.652G>A (p.Gly218Ser)
NM_020433.5(JPH2):c.655G>A (p.Gly219Ser)
NM_020433.5(JPH2):c.658C>T (p.Leu220Phe)
NM_020433.5(JPH2):c.67G>A (p.Ala23Thr)
NM_020433.5(JPH2):c.68C>T (p.Ala23Val)
NM_020433.5(JPH2):c.713C>T (p.Ser238Phe)
NM_020433.5(JPH2):c.736G>A (p.Val246Ile)
NM_020433.5(JPH2):c.752G>A (p.Ser251Asn)
NM_020433.5(JPH2):c.753C>G (p.Ser251Arg)
NM_020433.5(JPH2):c.758T>A (p.Leu253His)
NM_020433.5(JPH2):c.775G>A (p.Asp259Asn)
NM_020433.5(JPH2):c.791C>G (p.Ala264Gly)
NM_020433.5(JPH2):c.800G>A (p.Gly267Glu)
NM_020433.5(JPH2):c.817G>A (p.Ala273Thr)
NM_020433.5(JPH2):c.823G>A (p.Glu275Lys)
NM_020433.5(JPH2):c.823G>C (p.Glu275Gln)
NM_020433.5(JPH2):c.852C>A (p.Asp284Glu) rs747209399
NM_020433.5(JPH2):c.862A>G (p.Thr288Ala)
NM_020433.5(JPH2):c.869C>T (p.Thr290Ile) rs757257639
NM_020433.5(JPH2):c.919G>A (p.Glu307Lys) rs866434937
NM_020433.5(JPH2):c.92G>A (p.Gly31Asp) rs1569226648
NM_020433.5(JPH2):c.949G>A (p.Glu317Lys) rs1054295023
NM_020778.4(ALPK3):c.-1A>T
NM_020778.4(ALPK3):c.-3C>T
NM_020778.4(ALPK3):c.102G>A (p.Trp34Ter)
NM_020778.4(ALPK3):c.110G>A (p.Gly37Asp)
NM_020778.4(ALPK3):c.112C>A (p.Leu38Ile)
NM_020778.4(ALPK3):c.119G>A (p.Arg40Gln)
NM_020778.4(ALPK3):c.128C>A (p.Pro43Gln)
NM_020778.4(ALPK3):c.130A>T (p.Ser44Cys)
NM_020778.4(ALPK3):c.145G>A (p.Asp49Asn)
NM_020778.4(ALPK3):c.151G>C (p.Ala51Pro)
NM_020778.4(ALPK3):c.157C>G (p.Leu53Val)
NM_020778.4(ALPK3):c.175C>T (p.Arg59Cys)
NM_020778.4(ALPK3):c.184C>T (p.Leu62Phe)
NM_020778.4(ALPK3):c.194A>T (p.His65Leu)
NM_020778.4(ALPK3):c.199G>A (p.Gly67Arg)
NM_020778.4(ALPK3):c.208C>A (p.Gln70Lys)
NM_020778.4(ALPK3):c.223C>T (p.Pro75Ser)
NM_020778.4(ALPK3):c.230C>T (p.Pro77Leu)
NM_020778.4(ALPK3):c.237C>A (p.Ser79Arg)
NM_020778.4(ALPK3):c.250C>T (p.Pro84Ser)
NM_020778.4(ALPK3):c.257T>G (p.Leu86Arg) rs369860557
NM_020778.4(ALPK3):c.266A>G (p.Gln89Arg)
NM_020778.4(ALPK3):c.274C>A (p.Arg92Ser)
NM_020778.4(ALPK3):c.287T>C (p.Leu96Pro)
NM_020778.4(ALPK3):c.394C>T (p.Pro132Ser)
NM_020778.4(ALPK3):c.398C>T (p.Pro133Leu)
NM_020778.4(ALPK3):c.399dup (p.Gly134Argfs) rs769496975
NM_020778.4(ALPK3):c.400G>A (p.Gly134Ser)
NM_020778.4(ALPK3):c.419G>C (p.Cys140Ser)
NM_020778.4(ALPK3):c.431C>T (p.Ala144Val)
NM_020778.4(ALPK3):c.437C>G (p.Pro146Arg)
NM_020778.4(ALPK3):c.437C>T (p.Pro146Leu)
NM_020778.4(ALPK3):c.457G>A (p.Val153Met)
NM_020778.4(ALPK3):c.467C>G (p.Ala156Gly)
NM_020778.4(ALPK3):c.490G>C (p.Gly164Arg)
NM_020778.4(ALPK3):c.494C>T (p.Ala165Val)
NM_020778.4(ALPK3):c.499C>T (p.Gln167Ter)
NM_020778.4(ALPK3):c.71G>A (p.Arg24Gln)
NM_020778.4(ALPK3):c.79C>T (p.Pro27Ser)
NM_020778.4(ALPK3):c.80C>T (p.Pro27Leu)
NM_020778.4(ALPK3):c.95T>A (p.Val32Asp)
NM_020778.5(ALPK3):c.-23C>T
NM_020778.5(ALPK3):c.-27G>C
NM_020778.5(ALPK3):c.-36G>A
NM_020778.5(ALPK3):c.-66del rs974266035
NM_020778.5(ALPK3):c.-69G>A
NM_020778.5(ALPK3):c.-74G>T rs1444549839
NM_020778.5(ALPK3):c.-83C>T
NM_020778.5(ALPK3):c.1016G>A (p.Arg339His)
NM_020778.5(ALPK3):c.1024T>C (p.Ser342Pro)
NM_020778.5(ALPK3):c.1043G>A (p.Ser348Asn) rs2141556874
NM_020778.5(ALPK3):c.1054C>T (p.Pro352Ser)
NM_020778.5(ALPK3):c.1061C>T (p.Ser354Phe)
NM_020778.5(ALPK3):c.1096G>T (p.Val366Phe)
NM_020778.5(ALPK3):c.110G>A (p.Arg37Gln)
NM_020778.5(ALPK3):c.1145G>T (p.Gly382Val)
NM_020778.5(ALPK3):c.1163A>T (p.Lys388Met)
NM_020778.5(ALPK3):c.1177G>C (p.Val393Leu)
NM_020778.5(ALPK3):c.1186C>T (p.Pro396Ser)
NM_020778.5(ALPK3):c.1192A>G (p.Lys398Glu)
NM_020778.5(ALPK3):c.126C>A (p.Ser42Arg) rs909121019
NM_020778.5(ALPK3):c.1285C>T (p.Leu429Phe)
NM_020778.5(ALPK3):c.1288G>T (p.Gly430Trp) rs2141557079
NM_020778.5(ALPK3):c.1289G>C (p.Gly430Ala)
NM_020778.5(ALPK3):c.1303C>A (p.Gln435Lys)
NM_020778.5(ALPK3):c.1307C>A (p.Thr436Asn)
NM_020778.5(ALPK3):c.1318C>T (p.Arg440Trp)
NM_020778.5(ALPK3):c.135_143+12del
NM_020778.5(ALPK3):c.1373G>A (p.Gly458Glu)
NM_020778.5(ALPK3):c.1406C>T (p.Ser469Phe)
NM_020778.5(ALPK3):c.1433T>A (p.Phe478Tyr)
NM_020778.5(ALPK3):c.144-2A>G
NM_020778.5(ALPK3):c.1473G>C (p.Glu491Asp)
NM_020778.5(ALPK3):c.1492C>T (p.Pro498Ser)
NM_020778.5(ALPK3):c.1508G>A (p.Ser503Asn)
NM_020778.5(ALPK3):c.1525G>A (p.Gly509Arg)
NM_020778.5(ALPK3):c.1528G>T (p.Ala510Ser)
NM_020778.5(ALPK3):c.1573C>G (p.Pro525Ala)
NM_020778.5(ALPK3):c.157C>T (p.Arg53Trp)
NM_020778.5(ALPK3):c.1589G>T (p.Arg530Leu)
NM_020778.5(ALPK3):c.1594A>G (p.Arg532Gly) rs775263709
NM_020778.5(ALPK3):c.1598A>T (p.His533Leu)
NM_020778.5(ALPK3):c.1604C>T (p.Thr535Ile)
NM_020778.5(ALPK3):c.1633G>A (p.Gly545Ser)
NM_020778.5(ALPK3):c.1653G>C (p.Glu551Asp)
NM_020778.5(ALPK3):c.1669A>C (p.Thr557Pro)
NM_020778.5(ALPK3):c.1678G>A (p.Ala560Thr)
NM_020778.5(ALPK3):c.1681C>T (p.Pro561Ser)
NM_020778.5(ALPK3):c.1682C>T (p.Pro561Leu)
NM_020778.5(ALPK3):c.1685C>T (p.Thr562Ile) rs772032580
NM_020778.5(ALPK3):c.1688T>G (p.Met563Arg) rs150028343
NM_020778.5(ALPK3):c.1698C>G (p.Ser566Arg)
NM_020778.5(ALPK3):c.16G>C (p.Ala6Pro)
NM_020778.5(ALPK3):c.1711G>A (p.Val571Ile)
NM_020778.5(ALPK3):c.1733C>G (p.Thr578Ser)
NM_020778.5(ALPK3):c.1756G>A (p.Glu586Lys)
NM_020778.5(ALPK3):c.1795T>C (p.Ser599Pro)
NM_020778.5(ALPK3):c.1801A>T (p.Asn601Tyr)
NM_020778.5(ALPK3):c.1818C>G (p.Ser606Arg)
NM_020778.5(ALPK3):c.1838A>T (p.Asp613Val)
NM_020778.5(ALPK3):c.1840_1908dup (p.Asp636_Arg637insGlyLysIleGlnValAspGlyArgThrArgGlyAspGlyThrGlnThrAlaGlnArgThrArgAlaAsp)
NM_020778.5(ALPK3):c.1856A>T (p.Asp619Val)
NM_020778.5(ALPK3):c.1901G>A (p.Arg634His) rs34906636
NM_020778.5(ALPK3):c.1928C>T (p.Ala643Val)
NM_020778.5(ALPK3):c.1977G>C (p.Lys659Asn)
NM_020778.5(ALPK3):c.1982T>C (p.Met661Thr)
NM_020778.5(ALPK3):c.19C>A (p.Pro7Thr) rs1963372992
NM_020778.5(ALPK3):c.2043G>C (p.Gln681His)
NM_020778.5(ALPK3):c.2054A>G (p.Lys685Arg)
NM_020778.5(ALPK3):c.2065G>T (p.Asp689Tyr)
NM_020778.5(ALPK3):c.206C>A (p.Ala69Asp)
NM_020778.5(ALPK3):c.206C>T (p.Ala69Val) rs966823226
NM_020778.5(ALPK3):c.2093TGCAGGGAGAGAAGGGGA[1] (p.698MQGEKG[1]) rs759322802
NM_020778.5(ALPK3):c.2114A>G (p.Gln705Arg)
NM_020778.5(ALPK3):c.2129C>T (p.Thr710Met)
NM_020778.5(ALPK3):c.2158A>T (p.Met720Leu)
NM_020778.5(ALPK3):c.215C>G (p.Thr72Arg)
NM_020778.5(ALPK3):c.215C>T (p.Thr72Ile) rs781502917
NM_020778.5(ALPK3):c.2185G>A (p.Ala729Thr)
NM_020778.5(ALPK3):c.220G>A (p.Glu74Lys)
NM_020778.5(ALPK3):c.2239C>T (p.Pro747Ser)
NM_020778.5(ALPK3):c.2269G>A (p.Val757Ile)
NM_020778.5(ALPK3):c.2284G>A (p.Gly762Arg)
NM_020778.5(ALPK3):c.2291G>A (p.Cys764Tyr)
NM_020778.5(ALPK3):c.2342C>T (p.Thr781Ile)
NM_020778.5(ALPK3):c.2344G>A (p.Ala782Thr)
NM_020778.5(ALPK3):c.2344_2345delinsAT (p.Ala782Ile)
NM_020778.5(ALPK3):c.2345C>T (p.Ala782Val)
NM_020778.5(ALPK3):c.2363A>G (p.Gln788Arg)
NM_020778.5(ALPK3):c.2366C>G (p.Thr789Ser)
NM_020778.5(ALPK3):c.2393T>C (p.Leu798Pro) rs1002796135
NM_020778.5(ALPK3):c.2414C>T (p.Pro805Leu)
NM_020778.5(ALPK3):c.2434C>A (p.Gln812Lys)
NM_020778.5(ALPK3):c.2443G>A (p.Gly815Arg)
NM_020778.5(ALPK3):c.2465A>G (p.Gln822Arg)
NM_020778.5(ALPK3):c.2497G>T (p.Asp833Tyr) rs2141567926
NM_020778.5(ALPK3):c.2510A>T (p.Gln837Leu) rs1057524086
NM_020778.5(ALPK3):c.2536G>A (p.Gly846Arg)
NM_020778.5(ALPK3):c.2557G>A (p.Gly853Ser)
NM_020778.5(ALPK3):c.257G>A (p.Arg86Gln)
NM_020778.5(ALPK3):c.259T>C (p.Ser87Pro)
NM_020778.5(ALPK3):c.2611C>T (p.Pro871Ser) rs1439652574
NM_020778.5(ALPK3):c.2620G>A (p.Gly874Arg)
NM_020778.5(ALPK3):c.262G>A (p.Val88Met)
NM_020778.5(ALPK3):c.2659C>T (p.Pro887Ser)
NM_020778.5(ALPK3):c.2678G>A (p.Ser893Asn)
NM_020778.5(ALPK3):c.268G>A (p.Glu90Lys) rs780318912
NM_020778.5(ALPK3):c.268G>C (p.Glu90Gln)
NM_020778.5(ALPK3):c.2707C>A (p.Gln903Lys)
NM_020778.5(ALPK3):c.270G>C (p.Glu90Asp)
NM_020778.5(ALPK3):c.2728C>T (p.Pro910Ser)
NM_020778.5(ALPK3):c.2737C>T (p.His913Tyr) rs2141568220
NM_020778.5(ALPK3):c.2749G>A (p.Gly917Arg)
NM_020778.5(ALPK3):c.2759C>T (p.Thr920Ile)
NM_020778.5(ALPK3):c.2764A>C (p.Ser922Arg)
NM_020778.5(ALPK3):c.2770C>G (p.Pro924Ala)
NM_020778.5(ALPK3):c.2770_2771delinsGA (p.Pro924Glu)
NM_020778.5(ALPK3):c.2771C>A (p.Pro924Gln)
NM_020778.5(ALPK3):c.2771C>T (p.Pro924Leu) rs1346027337
NM_020778.5(ALPK3):c.2785G>A (p.Ala929Thr)
NM_020778.5(ALPK3):c.2809G>A (p.Ala937Thr)
NM_020778.5(ALPK3):c.2821G>C (p.Asp941His)
NM_020778.5(ALPK3):c.2822A>T (p.Asp941Val)
NM_020778.5(ALPK3):c.2825T>A (p.Val942Glu)
NM_020778.5(ALPK3):c.2833C>T (p.Arg945Trp)
NM_020778.5(ALPK3):c.2834G>A (p.Arg945Gln) rs377166800
NM_020778.5(ALPK3):c.2842G>A (p.Gly948Ser) rs1217503979
NM_020778.5(ALPK3):c.2842G>T (p.Gly948Cys)
NM_020778.5(ALPK3):c.2860C>T (p.Pro954Ser)
NM_020778.5(ALPK3):c.2896CTG[2] (p.Leu968del)
NM_020778.5(ALPK3):c.289A>G (p.Thr97Ala)
NM_020778.5(ALPK3):c.28G>A (p.Gly10Ser)
NM_020778.5(ALPK3):c.2915G>A (p.Ser972Asn)
NM_020778.5(ALPK3):c.2923A>T (p.Thr975Ser)
NM_020778.5(ALPK3):c.2929G>A (p.Gly977Arg)
NM_020778.5(ALPK3):c.293G>A (p.Cys98Tyr)
NM_020778.5(ALPK3):c.2995C>T (p.Pro999Ser)
NM_020778.5(ALPK3):c.3007G>A (p.Val1003Met)
NM_020778.5(ALPK3):c.3017T>G (p.Leu1006Arg) rs1963884081
NM_020778.5(ALPK3):c.3019A>C (p.Ser1007Arg)
NM_020778.5(ALPK3):c.3023C>T (p.Pro1008Leu)
NM_020778.5(ALPK3):c.3028A>G (p.Thr1010Ala)
NM_020778.5(ALPK3):c.3037C>T (p.Arg1013Cys) rs142109538
NM_020778.5(ALPK3):c.3041T>C (p.Ile1014Thr)
NM_020778.5(ALPK3):c.305-3C>T
NM_020778.5(ALPK3):c.3067C>G (p.Leu1023Val)
NM_020778.5(ALPK3):c.3136C>T (p.Arg1046Cys) rs34414438
NM_020778.5(ALPK3):c.3163C>G (p.Leu1055Val)
NM_020778.5(ALPK3):c.3163C>T (p.Leu1055Phe)
NM_020778.5(ALPK3):c.3172G>A (p.Ala1058Thr)
NM_020778.5(ALPK3):c.317C>G (p.Pro106Arg)
NM_020778.5(ALPK3):c.3196C>T (p.Pro1066Ser)
NM_020778.5(ALPK3):c.3231C>G (p.Asp1077Glu)
NM_020778.5(ALPK3):c.3260G>T (p.Gly1087Val)
NM_020778.5(ALPK3):c.3284T>C (p.Val1095Ala)
NM_020778.5(ALPK3):c.3287C>G (p.Ser1096Cys)
NM_020778.5(ALPK3):c.3289C>T (p.Pro1097Ser)
NM_020778.5(ALPK3):c.3289_3290delinsTT (p.Pro1097Phe) rs2141568853
NM_020778.5(ALPK3):c.328T>A (p.Trp110Arg)
NM_020778.5(ALPK3):c.328T>C (p.Trp110Arg)
NM_020778.5(ALPK3):c.3338G>T (p.Gly1113Val)
NM_020778.5(ALPK3):c.3347G>A (p.Gly1116Glu)
NM_020778.5(ALPK3):c.3370C>T (p.Pro1124Ser)
NM_020778.5(ALPK3):c.3377A>G (p.Gln1126Arg)
NM_020778.5(ALPK3):c.3406G>A (p.Glu1136Lys)
NM_020778.5(ALPK3):c.3410C>T (p.Pro1137Leu)
NM_020778.5(ALPK3):c.3419A>T (p.Glu1140Val)
NM_020778.5(ALPK3):c.3423G>T (p.Glu1141Asp)
NM_020778.5(ALPK3):c.3425A>G (p.Lys1142Arg)
NM_020778.5(ALPK3):c.3450_3451delinsCT (p.Leu1151Phe) rs2141569156
NM_020778.5(ALPK3):c.3452T>A (p.Leu1151His)
NM_020778.5(ALPK3):c.3464C>T (p.Thr1155Ile)
NM_020778.5(ALPK3):c.3472G>A (p.Glu1158Lys)
NM_020778.5(ALPK3):c.3487G>A (p.Ala1163Thr) rs372770939
NM_020778.5(ALPK3):c.3505C>T (p.Leu1169Phe)
NM_020778.5(ALPK3):c.3523G>A (p.Ala1175Thr)
NM_020778.5(ALPK3):c.352G>A (p.Asp118Asn)
NM_020778.5(ALPK3):c.3531C>G (p.Asp1177Glu) rs115438635
NM_020778.5(ALPK3):c.3550G>A (p.Glu1184Lys)
NM_020778.5(ALPK3):c.3575C>T (p.Ser1192Phe)
NM_020778.5(ALPK3):c.3581G>A (p.Arg1194Gln) rs543260061
NM_020778.5(ALPK3):c.3584G>A (p.Gly1195Glu)
NM_020778.5(ALPK3):c.3604C>T (p.Pro1202Ser)
NM_020778.5(ALPK3):c.3619A>C (p.Thr1207Pro)
NM_020778.5(ALPK3):c.3682C>G (p.Arg1228Gly) rs537104966
NM_020778.5(ALPK3):c.3682C>T (p.Arg1228Trp) rs537104966
NM_020778.5(ALPK3):c.3688GAG[2] (p.Glu1232del)
NM_020778.5(ALPK3):c.371C>A (p.Pro124Gln)
NM_020778.5(ALPK3):c.3722G>T (p.Ser1241Ile)
NM_020778.5(ALPK3):c.3794G>A (p.Arg1265Lys)
NM_020778.5(ALPK3):c.3816A>T (p.Lys1272Asn)
NM_020778.5(ALPK3):c.3821C>T (p.Pro1274Leu)
NM_020778.5(ALPK3):c.3826G>A (p.Val1276Met)
NM_020778.5(ALPK3):c.3856C>T (p.Pro1286Ser)
NM_020778.5(ALPK3):c.38C>G (p.Ala13Gly)
NM_020778.5(ALPK3):c.3916G>A (p.Val1306Ile)
NM_020778.5(ALPK3):c.393G>C (p.Gln131His)
NM_020778.5(ALPK3):c.3951C>T (p.Gly1317=)
NM_020778.5(ALPK3):c.3965+2T>C
NM_020778.5(ALPK3):c.3965+5G>A
NM_020778.5(ALPK3):c.3974A>T (p.Asp1325Val)
NM_020778.5(ALPK3):c.3994G>A (p.Ala1332Thr)
NM_020778.5(ALPK3):c.3997A>G (p.Ile1333Val)
NM_020778.5(ALPK3):c.3G>A (p.Met1Ile)
NM_020778.5(ALPK3):c.4013C>G (p.Pro1338Arg)
NM_020778.5(ALPK3):c.4021T>C (p.Cys1341Arg)
NM_020778.5(ALPK3):c.4037G>A (p.Cys1346Tyr)
NM_020778.5(ALPK3):c.4043T>C (p.Ile1348Thr)
NM_020778.5(ALPK3):c.404A>G (p.His135Arg)
NM_020778.5(ALPK3):c.4050T>A (p.Asn1350Lys)
NM_020778.5(ALPK3):c.4067C>T (p.Ser1356Phe)
NM_020778.5(ALPK3):c.4072G>A (p.Asp1358Asn)
NM_020778.5(ALPK3):c.4081_4083delinsTTT (p.Leu1361Phe)
NM_020778.5(ALPK3):c.4092G>T (p.Glu1364Asp) rs778715401
NM_020778.5(ALPK3):c.4126G>A (p.Glu1376Lys)
NM_020778.5(ALPK3):c.4159G>T (p.Val1387Leu)
NM_020778.5(ALPK3):c.4172G>C (p.Gly1391Ala)
NM_020778.5(ALPK3):c.4192T>G (p.Trp1398Gly)
NM_020778.5(ALPK3):c.4214G>A (p.Arg1405Gln)
NM_020778.5(ALPK3):c.425G>T (p.Cys142Phe) rs2141556129
NM_020778.5(ALPK3):c.4261C>T (p.Arg1421Trp)
NM_020778.5(ALPK3):c.4262G>A (p.Arg1421Gln)
NM_020778.5(ALPK3):c.4267G>C (p.Ala1423Pro) rs750010018
NM_020778.5(ALPK3):c.4282G>T (p.Val1428Phe)
NM_020778.5(ALPK3):c.4313C>G (p.Ser1438Trp)
NM_020778.5(ALPK3):c.4313C>T (p.Ser1438Leu)
NM_020778.5(ALPK3):c.4322C>A (p.Thr1441Lys) rs141398841
NM_020778.5(ALPK3):c.4322C>T (p.Thr1441Met) rs141398841
NM_020778.5(ALPK3):c.4360C>T (p.Pro1454Ser)
NM_020778.5(ALPK3):c.4372A>T (p.Thr1458Ser)
NM_020778.5(ALPK3):c.4373C>A (p.Thr1458Asn)
NM_020778.5(ALPK3):c.4422C>G (p.Ile1474Met)
NM_020778.5(ALPK3):c.4427A>G (p.Asn1476Ser)
NM_020778.5(ALPK3):c.442G>A (p.Ala148Thr)
NM_020778.5(ALPK3):c.4435C>G (p.Arg1479Gly)
NM_020778.5(ALPK3):c.4453_4455del (p.Phe1485del)
NM_020778.5(ALPK3):c.4462G>A (p.Glu1488Lys)
NM_020778.5(ALPK3):c.4496C>T (p.Pro1499Leu)
NM_020778.5(ALPK3):c.4505T>C (p.Ile1502Thr)
NM_020778.5(ALPK3):c.4507C>G (p.Pro1503Ala)
NM_020778.5(ALPK3):c.4525C>A (p.Arg1509=)
NM_020778.5(ALPK3):c.4525C>T (p.Arg1509Trp)
NM_020778.5(ALPK3):c.4526G>A (p.Arg1509Gln)
NM_020778.5(ALPK3):c.4549G>C (p.Ala1517Pro)
NM_020778.5(ALPK3):c.4577C>T (p.Pro1526Leu)
NM_020778.5(ALPK3):c.4595C>T (p.Ser1532Phe) rs747505947
NM_020778.5(ALPK3):c.4598G>T (p.Arg1533Leu) rs776664645
NM_020778.5(ALPK3):c.4604G>T (p.Trp1535Leu)
NM_020778.5(ALPK3):c.4639T>G (p.Ser1547Ala)
NM_020778.5(ALPK3):c.4682A>G (p.Tyr1561Cys)
NM_020778.5(ALPK3):c.4723+1G>A
NM_020778.5(ALPK3):c.4729G>T (p.Asp1577Tyr)
NM_020778.5(ALPK3):c.4744G>A (p.Asp1582Asn)
NM_020778.5(ALPK3):c.47G>C (p.Arg16Pro)
NM_020778.5(ALPK3):c.4816C>T (p.Arg1606Trp) rs769796609
NM_020778.5(ALPK3):c.4852G>T (p.Glu1618Ter)
NM_020778.5(ALPK3):c.4861G>T (p.Gly1621Trp)
NM_020778.5(ALPK3):c.4879G>A (p.Gly1627Ser)
NM_020778.5(ALPK3):c.4882C>T (p.Pro1628Ser)
NM_020778.5(ALPK3):c.488G>T (p.Cys163Phe)
NM_020778.5(ALPK3):c.4896C>A (p.His1632Gln) rs1387694108
NM_020778.5(ALPK3):c.4898C>G (p.Pro1633Arg)
NM_020778.5(ALPK3):c.4954C>A (p.Leu1652Met) rs139738663
NM_020778.5(ALPK3):c.4955T>C (p.Leu1652Pro)
NM_020778.5(ALPK3):c.4966C>T (p.Pro1656Ser)
NM_020778.5(ALPK3):c.4969del (p.Gln1657fs)
NM_020778.5(ALPK3):c.49T>G (p.Ser17Ala)
NM_020778.5(ALPK3):c.5000C>T (p.Thr1667Ile)
NM_020778.5(ALPK3):c.5009G>A (p.Ser1670Asn)
NM_020778.5(ALPK3):c.5024A>G (p.Lys1675Arg)
NM_020778.5(ALPK3):c.5027C>T (p.Ala1676Val) rs150250443
NM_020778.5(ALPK3):c.5065T>G (p.Leu1689Val)
NM_020778.5(ALPK3):c.5075C>G (p.Pro1692Arg)
NM_020778.5(ALPK3):c.5080A>G (p.Thr1694Ala)
NM_020778.5(ALPK3):c.50C>G (p.Ser17Trp)
NM_020778.5(ALPK3):c.5104C>G (p.Gln1702Glu)
NM_020778.5(ALPK3):c.5104C>T (p.Gln1702Ter)
NM_020778.5(ALPK3):c.5107G>A (p.Gly1703Ser)
NM_020778.5(ALPK3):c.5115del (p.Ter1706SerextTer?) rs753251432
NM_020778.5(ALPK3):c.524A>C (p.Tyr175Ser)
NM_020778.5(ALPK3):c.56C>G (p.Ala19Gly)
NM_020778.5(ALPK3):c.583G>A (p.Glu195Lys)
NM_020778.5(ALPK3):c.588C>G (p.Ile196Met) rs1165843264
NM_020778.5(ALPK3):c.589G>C (p.Glu197Gln)
NM_020778.5(ALPK3):c.58G>A (p.Gly20Arg)
NM_020778.5(ALPK3):c.640C>T (p.Arg214Cys)
NM_020778.5(ALPK3):c.646C>G (p.Leu216Val)
NM_020778.5(ALPK3):c.646_647delinsGC (p.Leu216Ala)
NM_020778.5(ALPK3):c.647T>C (p.Leu216Pro)
NM_020778.5(ALPK3):c.658C>T (p.Arg220Cys)
NM_020778.5(ALPK3):c.680T>G (p.Leu227Trp)
NM_020778.5(ALPK3):c.682_696del (p.Ser228_Ala232del)
NM_020778.5(ALPK3):c.709G>A (p.Val237Ile)
NM_020778.5(ALPK3):c.722A>C (p.Glu241Ala)
NM_020778.5(ALPK3):c.755A>T (p.Glu252Val)
NM_020778.5(ALPK3):c.763A>C (p.Thr255Pro)
NM_020778.5(ALPK3):c.789G>C (p.Leu263Phe)
NM_020778.5(ALPK3):c.793C>G (p.Leu265Val)
NM_020778.5(ALPK3):c.7T>G (p.Ser3Ala)
NM_020778.5(ALPK3):c.809C>T (p.Ala270Val)
NM_020778.5(ALPK3):c.845C>A (p.Pro282His)
NM_020778.5(ALPK3):c.86T>C (p.Val29Ala)
NM_020778.5(ALPK3):c.893A>G (p.Asp298Gly)
NM_020778.5(ALPK3):c.896C>A (p.Ala299Asp)
NM_020778.5(ALPK3):c.904C>A (p.Leu302Met)
NM_020778.5(ALPK3):c.910C>T (p.Pro304Ser)
NM_020778.5(ALPK3):c.919G>C (p.Ala307Pro)
NM_020778.5(ALPK3):c.92T>A (p.Ile31Asn)
NM_020778.5(ALPK3):c.977G>T (p.Gly326Val)
NM_020778.5(ALPK3):c.982C>T (p.Arg328Trp)
NM_020778.5(ALPK3):c.98G>A (p.Ser33Asn)
NM_020778.5(ALPK3):c.991G>A (p.Glu331Lys) rs1366856276
NM_020778.5(ALPK3):c.997G>A (p.Glu333Lys)
NM_021167.5(GATAD1):c.104G>T (p.Gly35Val)
NM_021167.5(GATAD1):c.106C>T (p.Arg36Trp) rs1166946596
NM_021167.5(GATAD1):c.107G>A (p.Arg36Gln) rs934989780
NM_021167.5(GATAD1):c.107G>C (p.Arg36Pro)
NM_021167.5(GATAD1):c.112G>T (p.Gly38Cys)
NM_021167.5(GATAD1):c.117_131del (p.38_42GAGSG[1]) rs779421592
NM_021167.5(GATAD1):c.124G>A (p.Gly42Arg)
NM_021167.5(GATAD1):c.125G>A (p.Gly42Glu)
NM_021167.5(GATAD1):c.128G>A (p.Gly43Asp)
NM_021167.5(GATAD1):c.128G>T (p.Gly43Val)
NM_021167.5(GATAD1):c.146C>T (p.Ala49Val)
NM_021167.5(GATAD1):c.157G>C (p.Gly53Arg) rs988478105
NM_021167.5(GATAD1):c.157G>T (p.Gly53Trp) rs988478105
NM_021167.5(GATAD1):c.163A>G (p.Ser55Gly)
NM_021167.5(GATAD1):c.170G>A (p.Gly57Asp)
NM_021167.5(GATAD1):c.182G>A (p.Gly61Asp)
NM_021167.5(GATAD1):c.184G>A (p.Ala62Thr) rs1445688677
NM_021167.5(GATAD1):c.188C>G (p.Ala63Gly)
NM_021167.5(GATAD1):c.199A>G (p.Ser67Gly)
NM_021167.5(GATAD1):c.206C>T (p.Ser69Phe)
NM_021167.5(GATAD1):c.231GGGCGG[3] (p.Gly80_Gly81dup) rs1415933913
NM_021167.5(GATAD1):c.250-5A>G
NM_021167.5(GATAD1):c.31G>A (p.Val11Ile)
NM_021167.5(GATAD1):c.358A>G (p.Ile120Val)
NM_021167.5(GATAD1):c.362T>C (p.Phe121Ser)
NM_021167.5(GATAD1):c.368T>G (p.Leu123Trp)
NM_021167.5(GATAD1):c.424A>G (p.Ile142Val)
NM_021167.5(GATAD1):c.435+5G>A
NM_021167.5(GATAD1):c.437G>A (p.Gly146Glu)
NM_021167.5(GATAD1):c.487G>A (p.Gly163Arg)
NM_021167.5(GATAD1):c.500A>T (p.Tyr167Phe)
NM_021167.5(GATAD1):c.526G>A (p.Asp176Asn)
NM_021167.5(GATAD1):c.537C>G (p.Cys179Trp) rs727503061
NM_021167.5(GATAD1):c.550G>T (p.Ala184Ser)
NM_021167.5(GATAD1):c.625G>C (p.Glu209Gln)
NM_021167.5(GATAD1):c.62A>G (p.Lys21Arg)
NM_021167.5(GATAD1):c.647T>C (p.Met216Thr)
NM_021167.5(GATAD1):c.698G>A (p.Arg233Gln)
NM_021167.5(GATAD1):c.701C>A (p.Ser234Ter)
NM_021167.5(GATAD1):c.754C>T (p.His252Tyr)
NM_021167.5(GATAD1):c.76G>C (p.Gly26Arg)
NM_021167.5(GATAD1):c.79G>A (p.Glu27Lys)
NM_021167.5(GATAD1):c.800A>G (p.Asn267Ser)
NM_021167.5(GATAD1):c.85C>A (p.Leu29Ile)
NM_021167.5(GATAD1):c.94C>T (p.His32Tyr)
NM_022436.3(ABCG5):c.1001T>C (p.Ile334Thr)
NM_022436.3(ABCG5):c.1006C>T (p.His336Tyr)
NM_022436.3(ABCG5):c.1015T>G (p.Leu339Val)
NM_022436.3(ABCG5):c.1025T>C (p.Ile342Thr)
NM_022436.3(ABCG5):c.1043T>G (p.Leu348Arg)
NM_022436.3(ABCG5):c.1068C>G (p.Phe356Leu)
NM_022436.3(ABCG5):c.1082C>G (p.Ser361Cys) rs776365033
NM_022436.3(ABCG5):c.10C>A (p.Leu4Ile)
NM_022436.3(ABCG5):c.1137G>C (p.Leu379Phe)
NM_022436.3(ABCG5):c.1186A>T (p.Met396Leu)
NM_022436.3(ABCG5):c.1248C>G (p.Ile416Met)
NM_022436.3(ABCG5):c.1250A>G (p.Gln417Arg)
NM_022436.3(ABCG5):c.1252G>A (p.Asp418Asn)
NM_022436.3(ABCG5):c.1289C>T (p.Thr430Ile)
NM_022436.3(ABCG5):c.1303A>G (p.Met435Val)
NM_022436.3(ABCG5):c.1333C>G (p.Leu445Val)
NM_022436.3(ABCG5):c.139G>C (p.Val47Leu) rs72542426
NM_022436.3(ABCG5):c.1433C>A (p.Ala478Asp)
NM_022436.3(ABCG5):c.1472G>A (p.Gly491Asp)
NM_022436.3(ABCG5):c.1501T>C (p.Tyr501His)
NM_022436.3(ABCG5):c.1514C>A (p.Ala505Asp)
NM_022436.3(ABCG5):c.1522G>A (p.Ala508Thr)
NM_022436.3(ABCG5):c.1537G>C (p.Gly513Arg) rs1418170362
NM_022436.3(ABCG5):c.1549A>C (p.Thr517Pro)
NM_022436.3(ABCG5):c.158C>T (p.Pro53Leu)
NM_022436.3(ABCG5):c.1593C>A (p.Asn531Lys)
NM_022436.3(ABCG5):c.1596T>A (p.Ser532Arg)
NM_022436.3(ABCG5):c.1603G>A (p.Ala535Thr)
NM_022436.3(ABCG5):c.1616T>C (p.Ile539Thr)
NM_022436.3(ABCG5):c.1624G>C (p.Val542Leu)
NM_022436.3(ABCG5):c.1628T>C (p.Leu543Pro)
NM_022436.3(ABCG5):c.1654A>C (p.Ile552Leu)
NM_022436.3(ABCG5):c.1667C>T (p.Pro556Leu)
NM_022436.3(ABCG5):c.1672C>G (p.Pro558Ala)
NM_022436.3(ABCG5):c.1690T>C (p.Tyr564His)
NM_022436.3(ABCG5):c.1720A>T (p.Ile574Phe)
NM_022436.3(ABCG5):c.1727T>C (p.Val576Ala)
NM_022436.3(ABCG5):c.1792C>A (p.Pro598Thr)
NM_022436.3(ABCG5):c.1825A>G (p.Ile609Val)
NM_022436.3(ABCG5):c.1826T>C (p.Ile609Thr)
NM_022436.3(ABCG5):c.1828G>C (p.Glu610Gln)
NM_022436.3(ABCG5):c.1891A>T (p.Ile631Phe)
NM_022436.3(ABCG5):c.1898C>G (p.Ala633Gly)
NM_022436.3(ABCG5):c.1942C>T (p.Leu648Phe)
NM_022436.3(ABCG5):c.1952G>A (p.Arg651Lys)
NM_022436.3(ABCG5):c.212A>G (p.Asp71Gly)
NM_022436.3(ABCG5):c.214G>A (p.Val72Ile)
NM_022436.3(ABCG5):c.226G>C (p.Val76Leu)
NM_022436.3(ABCG5):c.242T>C (p.Ile81Thr)
NM_022436.3(ABCG5):c.25C>A (p.Pro9Thr)
NM_022436.3(ABCG5):c.260G>T (p.Ser87Ile)
NM_022436.3(ABCG5):c.377A>G (p.Gln126Arg)
NM_022436.3(ABCG5):c.383G>C (p.Cys128Ser)
NM_022436.3(ABCG5):c.395T>A (p.Val132Asp)
NM_022436.3(ABCG5):c.398T>G (p.Leu133Arg)
NM_022436.3(ABCG5):c.39G>C (p.Met13Ile)
NM_022436.3(ABCG5):c.434G>A (p.Arg145His)
NM_022436.3(ABCG5):c.43C>G (p.Leu15Val) rs372312214
NM_022436.3(ABCG5):c.448T>C (p.Tyr150His)
NM_022436.3(ABCG5):c.452C>G (p.Thr151Ser)
NM_022436.3(ABCG5):c.469C>T (p.Arg157Cys)
NM_022436.3(ABCG5):c.527G>A (p.Ser176Asn)
NM_022436.3(ABCG5):c.560A>G (p.Asn187Ser)
NM_022436.3(ABCG5):c.571G>C (p.Gly191Arg)
NM_022436.3(ABCG5):c.596G>A (p.Arg199His)
NM_022436.3(ABCG5):c.613G>A (p.Ala205Thr)
NM_022436.3(ABCG5):c.680C>G (p.Thr227Ser)
NM_022436.3(ABCG5):c.686A>C (p.Asn229Thr)
NM_022436.3(ABCG5):c.719G>A (p.Arg240His)
NM_022436.3(ABCG5):c.723G>T (p.Arg241Ser)
NM_022436.3(ABCG5):c.757C>T (p.Arg253Cys)
NM_022436.3(ABCG5):c.782A>T (p.Asp261Val)
NM_022436.3(ABCG5):c.791C>T (p.Ala264Val)
NM_022436.3(ABCG5):c.805G>C (p.Gly269Arg)
NM_022436.3(ABCG5):c.833C>A (p.Ala278Glu)
NM_022436.3(ABCG5):c.890C>T (p.Pro297Leu)
NM_022436.3(ABCG5):c.893T>C (p.Phe298Ser)
NM_022436.3(ABCG5):c.970A>G (p.Met324Val)
NM_022437.2:c.927_928insALU
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser) rs145373839
NM_022437.3(ABCG8):c.1036G>A (p.Ala346Thr)
NM_022437.3(ABCG8):c.1061G>A (p.Arg354His) rs142346631
NM_022437.3(ABCG8):c.1070A>G (p.Asp357Gly) rs1232951681
NM_022437.3(ABCG8):c.1087G>C (p.Ala363Pro)
NM_022437.3(ABCG8):c.1099G>A (p.Asp367Asn)
NM_022437.3(ABCG8):c.1110G>T (p.Glu370Asp)
NM_022437.3(ABCG8):c.1124A>C (p.Glu375Ala)
NM_022437.3(ABCG8):c.1132G>A (p.Val378Met)
NM_022437.3(ABCG8):c.1152C>A (p.Asn384Lys)
NM_022437.3(ABCG8):c.1152C>G (p.Asn384Lys)
NM_022437.3(ABCG8):c.1165C>G (p.Pro389Ala)
NM_022437.3(ABCG8):c.1166C>T (p.Pro389Leu)
NM_022437.3(ABCG8):c.1169C>T (p.Thr390Met)
NM_022437.3(ABCG8):c.1180G>C (p.Gly394Arg) rs374156864
NM_022437.3(ABCG8):c.1214G>T (p.Arg405Leu)
NM_022437.3(ABCG8):c.1243C>T (p.Pro415Ser)
NM_022437.3(ABCG8):c.1293C>G (p.Ile431Met)
NM_022437.3(ABCG8):c.1313A>G (p.His438Arg)
NM_022437.3(ABCG8):c.1337T>G (p.Met446Arg)
NM_022437.3(ABCG8):c.1372C>T (p.Leu458Phe)
NM_022437.3(ABCG8):c.1481T>C (p.Phe494Ser)
NM_022437.3(ABCG8):c.1534G>A (p.Gly512Arg)
NM_022437.3(ABCG8):c.1540C>A (p.Pro514Thr)
NM_022437.3(ABCG8):c.1540C>T (p.Pro514Ser)
NM_022437.3(ABCG8):c.1547A>C (p.Tyr516Ser)
NM_022437.3(ABCG8):c.1556C>T (p.Ala519Val)
NM_022437.3(ABCG8):c.157A>G (p.Asn53Asp)
NM_022437.3(ABCG8):c.1598T>C (p.Leu533Pro)
NM_022437.3(ABCG8):c.1604T>C (p.Val535Ala)
NM_022437.3(ABCG8):c.1619T>C (p.Phe540Ser)
NM_022437.3(ABCG8):c.1637C>T (p.Ala546Val) rs1025595416
NM_022437.3(ABCG8):c.1642G>A (p.Ala548Thr)
NM_022437.3(ABCG8):c.1642G>T (p.Ala548Ser)
NM_022437.3(ABCG8):c.1664C>T (p.Thr555Ile)
NM_022437.3(ABCG8):c.1669C>G (p.His557Asp)
NM_022437.3(ABCG8):c.1675G>C (p.Ala559Pro)
NM_022437.3(ABCG8):c.1689C>G (p.Ser563Arg)
NM_022437.3(ABCG8):c.1697T>G (p.Leu566Arg)
NM_022437.3(ABCG8):c.1700A>C (p.Tyr567Ser)
NM_022437.3(ABCG8):c.170A>C (p.Asp57Ala)
NM_022437.3(ABCG8):c.1762G>C (p.Ala588Pro)
NM_022437.3(ABCG8):c.1792T>C (p.Trp598Arg)
NM_022437.3(ABCG8):c.1820A>G (p.Gln607Arg)
NM_022437.3(ABCG8):c.1846C>T (p.Pro616Ser)
NM_022437.3(ABCG8):c.1868C>T (p.Ala623Val)
NM_022437.3(ABCG8):c.1954G>A (p.Gly652Ser)
NM_022437.3(ABCG8):c.1994T>G (p.Ile665Ser)
NM_022437.3(ABCG8):c.22G>A (p.Glu8Lys)
NM_022437.3(ABCG8):c.255G>T (p.Glu85Asp)
NM_022437.3(ABCG8):c.287G>T (p.Arg96Ile)
NM_022437.3(ABCG8):c.28G>A (p.Gly10Arg)
NM_022437.3(ABCG8):c.31C>G (p.Leu11Val)
NM_022437.3(ABCG8):c.337T>C (p.Ser113Pro)
NM_022437.3(ABCG8):c.362G>A (p.Arg121Gln)
NM_022437.3(ABCG8):c.389G>T (p.Gly130Val) rs968485818
NM_022437.3(ABCG8):c.393G>C (p.Gln131His)
NM_022437.3(ABCG8):c.41G>C (p.Gly14Ala)
NM_022437.3(ABCG8):c.449A>G (p.His150Arg)
NM_022437.3(ABCG8):c.458A>C (p.Gln153Pro)
NM_022437.3(ABCG8):c.487G>A (p.Val163Met)
NM_022437.3(ABCG8):c.519G>A (p.Met173Ile)
NM_022437.3(ABCG8):c.533C>A (p.Thr178Asn)
NM_022437.3(ABCG8):c.537C>A (p.Phe179Leu)
NM_022437.3(ABCG8):c.542A>G (p.Gln181Arg)
NM_022437.3(ABCG8):c.551G>C (p.Arg184Pro)
NM_022437.3(ABCG8):c.589C>T (p.Leu197Phe)
NM_022437.3(ABCG8):c.590T>C (p.Leu197Pro)
NM_022437.3(ABCG8):c.613G>C (p.Val205Leu) rs373723529
NM_022437.3(ABCG8):c.629T>G (p.Val210Gly)
NM_022437.3(ABCG8):c.635G>A (p.Gly212Glu)
NM_022437.3(ABCG8):c.63G>A (p.Ser21=)
NM_022437.3(ABCG8):c.643G>A (p.Gly215Arg)
NM_022437.3(ABCG8):c.653G>A (p.Arg218His)
NM_022437.3(ABCG8):c.653G>T (p.Arg218Leu)
NM_022437.3(ABCG8):c.661G>A (p.Val221Ile)
NM_022437.3(ABCG8):c.674T>A (p.Val225Glu)
NM_022437.3(ABCG8):c.697A>G (p.Ile233Val)
NM_022437.3(ABCG8):c.730G>A (p.Asp244Asn)
NM_022437.3(ABCG8):c.742G>A (p.Ala248Thr)
NM_022437.3(ABCG8):c.757A>G (p.Lys253Glu)
NM_022437.3(ABCG8):c.887C>T (p.Ala296Val)
NM_022437.3(ABCG8):c.898A>G (p.Met300Val)
NM_022437.3(ABCG8):c.919A>G (p.Ile307Val)
NM_022437.3(ABCG8):c.92A>C (p.Glu31Ala)
NM_022437.3(ABCG8):c.988C>T (p.Arg330Cys)
NM_022437.3(ABCG8):c.99C>A (p.Asp33Glu)
NM_022773.4(LMF1):c.101G>A (p.Gly34Glu)
NM_022773.4(LMF1):c.1036A>G (p.Met346Val) rs201767825
NM_022773.4(LMF1):c.1042A>G (p.Arg348Gly)
NM_022773.4(LMF1):c.1069C>G (p.Pro357Ala)
NM_022773.4(LMF1):c.106G>A (p.Gly36Ser)
NM_022773.4(LMF1):c.1075T>C (p.Phe359Leu)
NM_022773.4(LMF1):c.1076T>G (p.Phe359Cys)
NM_022773.4(LMF1):c.1078G>A (p.Gly360Ser)
NM_022773.4(LMF1):c.1078G>C (p.Gly360Arg)
NM_022773.4(LMF1):c.1094G>A (p.Arg365His)
NM_022773.4(LMF1):c.1097C>T (p.Ala366Val)
NM_022773.4(LMF1):c.112G>A (p.Ala38Thr)
NM_022773.4(LMF1):c.113C>T (p.Ala38Val)
NM_022773.4(LMF1):c.1150C>T (p.Leu384Phe)
NM_022773.4(LMF1):c.115G>C (p.Gly39Arg)
NM_022773.4(LMF1):c.1192A>G (p.Asn398Asp)
NM_022773.4(LMF1):c.1204A>G (p.Ile402Val)
NM_022773.4(LMF1):c.1205T>G (p.Ile402Ser)
NM_022773.4(LMF1):c.1208T>C (p.Val403Ala)
NM_022773.4(LMF1):c.1211A>G (p.Asn404Ser)
NM_022773.4(LMF1):c.1216T>C (p.Tyr406His)
NM_022773.4(LMF1):c.1246C>T (p.Arg416Trp)
NM_022773.4(LMF1):c.1260C>G (p.Ile420Met)
NM_022773.4(LMF1):c.1318G>A (p.Glu440Lys)
NM_022773.4(LMF1):c.1318G>C (p.Glu440Gln)
NM_022773.4(LMF1):c.134A>T (p.His45Leu)
NM_022773.4(LMF1):c.1396A>T (p.Met466Leu)
NM_022773.4(LMF1):c.1423G>A (p.Glu475Lys)
NM_022773.4(LMF1):c.1427A>C (p.His476Pro)
NM_022773.4(LMF1):c.1432G>T (p.Asp478Tyr)
NM_022773.4(LMF1):c.1441A>G (p.Ile481Val)
NM_022773.4(LMF1):c.1451C>T (p.Ala484Val)
NM_022773.4(LMF1):c.145T>G (p.Phe49Val)
NM_022773.4(LMF1):c.1460T>C (p.Leu487Pro)
NM_022773.4(LMF1):c.1474G>A (p.Ala492Thr)
NM_022773.4(LMF1):c.1479G>C (p.Glu493Asp)
NM_022773.4(LMF1):c.1481C>G (p.Ala494Gly)
NM_022773.4(LMF1):c.1496C>T (p.Ala499Val)
NM_022773.4(LMF1):c.1502A>T (p.Asn501Ile)
NM_022773.4(LMF1):c.1510G>A (p.Ala504Thr)
NM_022773.4(LMF1):c.1518G>T (p.Arg506Ser)
NM_022773.4(LMF1):c.1528A>G (p.Arg510Gly)
NM_022773.4(LMF1):c.1538G>A (p.Arg513Gln)
NM_022773.4(LMF1):c.1553G>A (p.Arg518Lys)
NM_022773.4(LMF1):c.1574G>A (p.Gly525Glu)
NM_022773.4(LMF1):c.1588G>A (p.Ala530Thr)
NM_022773.4(LMF1):c.1591G>A (p.Glu531Lys)
NM_022773.4(LMF1):c.1606G>A (p.Val536Met)
NM_022773.4(LMF1):c.1645C>G (p.Leu549Val)
NM_022773.4(LMF1):c.1673A>G (p.Asp558Gly)
NM_022773.4(LMF1):c.1675C>T (p.Arg559Cys)
NM_022773.4(LMF1):c.1694G>T (p.Gly565Val)
NM_022773.4(LMF1):c.176C>T (p.Ala59Val)
NM_022773.4(LMF1):c.188T>A (p.Val63Glu)
NM_022773.4(LMF1):c.196G>A (p.Val66Met)
NM_022773.4(LMF1):c.199G>A (p.Ala67Thr)
NM_022773.4(LMF1):c.199G>C (p.Ala67Pro)
NM_022773.4(LMF1):c.220C>G (p.Gln74Glu)
NM_022773.4(LMF1):c.223A>C (p.Asn75His)
NM_022773.4(LMF1):c.242A>G (p.Asp81Gly)
NM_022773.4(LMF1):c.254T>G (p.Leu85Arg)
NM_022773.4(LMF1):c.257C>A (p.Pro86His)
NM_022773.4(LMF1):c.298G>A (p.Asp100Asn)
NM_022773.4(LMF1):c.305C>T (p.Thr102Met)
NM_022773.4(LMF1):c.322A>G (p.Ser108Gly)
NM_022773.4(LMF1):c.330G>A (p.Met110Ile)
NM_022773.4(LMF1):c.338T>C (p.Ile113Thr)
NM_022773.4(LMF1):c.354C>G (p.Asp118Glu)
NM_022773.4(LMF1):c.371C>G (p.Ser124Cys)
NM_022773.4(LMF1):c.374A>G (p.Asn125Ser)
NM_022773.4(LMF1):c.383T>A (p.Leu128Ter) rs2072617381
NM_022773.4(LMF1):c.395T>A (p.Leu132His)
NM_022773.4(LMF1):c.404G>T (p.Gly135Val)
NM_022773.4(LMF1):c.40T>A (p.Ser14Thr)
NM_022773.4(LMF1):c.41C>T (p.Ser14Leu)
NM_022773.4(LMF1):c.428C>T (p.Thr143Met)
NM_022773.4(LMF1):c.430G>A (p.Gly144Ser)
NM_022773.4(LMF1):c.434G>A (p.Cys145Tyr)
NM_022773.4(LMF1):c.448C>G (p.Leu150Val)
NM_022773.4(LMF1):c.512T>C (p.Phe171Ser)
NM_022773.4(LMF1):c.574A>G (p.Thr192Ala)
NM_022773.4(LMF1):c.595C>T (p.His199Tyr)
NM_022773.4(LMF1):c.649A>G (p.Ile217Val)
NM_022773.4(LMF1):c.674A>T (p.Lys225Met)
NM_022773.4(LMF1):c.679C>T (p.Arg227Trp)
NM_022773.4(LMF1):c.67T>C (p.Ser23Pro)
NM_022773.4(LMF1):c.680G>A (p.Arg227Gln)
NM_022773.4(LMF1):c.683G>A (p.Gly228Glu) rs754772870
NM_022773.4(LMF1):c.685dup (p.Asp229fs)
NM_022773.4(LMF1):c.70G>T (p.Asp24Tyr)
NM_022773.4(LMF1):c.725A>G (p.Tyr242Cys)
NM_022773.4(LMF1):c.725A>T (p.Tyr242Phe)
NM_022773.4(LMF1):c.766C>T (p.His256Tyr)
NM_022773.4(LMF1):c.779G>C (p.Trp260Ser)
NM_022773.4(LMF1):c.791G>A (p.Arg264His)
NM_022773.4(LMF1):c.838T>C (p.Phe280Leu)
NM_022773.4(LMF1):c.841C>T (p.Leu281Phe)
NM_022773.4(LMF1):c.842T>C (p.Leu281Pro)
NM_022773.4(LMF1):c.848T>A (p.Leu283His)
NM_022773.4(LMF1):c.854G>A (p.Arg285Gln)
NM_022773.4(LMF1):c.857G>A (p.Arg286Gln)
NM_022773.4(LMF1):c.869T>C (p.Ile290Thr)
NM_022773.4(LMF1):c.88C>T (p.Pro30Ser)
NM_022773.4(LMF1):c.890T>C (p.Leu297Pro)
NM_022773.4(LMF1):c.902T>A (p.Val301Asp)
NM_022773.4(LMF1):c.92C>T (p.Pro31Leu)
NM_022773.4(LMF1):c.938G>T (p.Trp313Leu)
NM_022773.4(LMF1):c.956G>C (p.Ser319Thr)
NM_022773.4(LMF1):c.976G>A (p.Ala326Thr)
NM_022773.4(LMF1):c.97C>T (p.Pro33Ser)
NM_022773.4(LMF1):c.989T>A (p.Phe330Tyr)
NM_022773.4(LMF1):c.990C>A (p.Phe330Leu)
NM_022773.4(LMF1):c.998C>G (p.Pro333Arg)
NM_024301.5(FKRP):c.-4C>T
NM_024301.5(FKRP):c.1007C>T (p.Ala336Val) rs1555738924
NM_024301.5(FKRP):c.100T>A (p.Ser34Thr)
NM_024301.5(FKRP):c.1040T>A (p.Leu347Gln)
NM_024301.5(FKRP):c.1043T>A (p.Leu348Gln)
NM_024301.5(FKRP):c.1045G>T (p.Gly349Trp)
NM_024301.5(FKRP):c.10A>G (p.Thr4Ala)
NM_024301.5(FKRP):c.1141G>A (p.Ala381Thr)
NM_024301.5(FKRP):c.1177G>T (p.Val393Leu)
NM_024301.5(FKRP):c.1315G>A (p.Val439Met)
NM_024301.5(FKRP):c.1346T>C (p.Leu449Pro)
NM_024301.5(FKRP):c.1379A>G (p.Gln460Arg)
NM_024301.5(FKRP):c.1388A>T (p.Asn463Ile) rs2122636612
NM_024301.5(FKRP):c.1442C>A (p.Pro481His) rs727502844
NM_024301.5(FKRP):c.151G>C (p.Val51Leu)
NM_024301.5(FKRP):c.180C>G (p.Asp60Glu)
NM_024301.5(FKRP):c.223C>G (p.Pro75Ala)
NM_024301.5(FKRP):c.272T>A (p.Leu91Gln)
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu) rs1473327480
NM_024301.5(FKRP):c.329G>C (p.Arg110Pro)
NM_024301.5(FKRP):c.344C>G (p.Ser115Trp) rs752018916
NM_024301.5(FKRP):c.346C>T (p.Arg116Cys)
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr) rs768376273
NM_024301.5(FKRP):c.385G>C (p.Val129Leu) rs747642602
NM_024301.5(FKRP):c.394G>A (p.Gly132Arg)
NM_024301.5(FKRP):c.394G>C (p.Gly132Arg) rs900304726
NM_024301.5(FKRP):c.424G>A (p.Glu142Lys)
NM_024301.5(FKRP):c.428G>T (p.Arg143Leu)
NM_024301.5(FKRP):c.485C>T (p.Thr162Met)
NM_024301.5(FKRP):c.527G>A (p.Arg176Gln) rs755316345
NM_024301.5(FKRP):c.529G>A (p.Glu177Lys) rs727502843
NM_024301.5(FKRP):c.540_541delinsTA (p.Arg181Ser) rs1568418289
NM_024301.5(FKRP):c.541C>T (p.Arg181Cys) rs777245868
NM_024301.5(FKRP):c.556C>G (p.Pro186Ala)
NM_024301.5(FKRP):c.590A>T (p.Asp197Val)
NM_024301.5(FKRP):c.607C>T (p.Arg203Cys)
NM_024301.5(FKRP):c.61C>T (p.Leu21Phe)
NM_024301.5(FKRP):c.646C>T (p.Arg216Trp) rs2054912295
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) rs878855080
NM_024301.5(FKRP):c.658A>C (p.Thr220Pro)
NM_024301.5(FKRP):c.721G>A (p.Ala241Thr)
NM_024301.5(FKRP):c.731G>T (p.Arg244Leu) rs764641619
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg) rs2054916842
NM_024301.5(FKRP):c.779A>C (p.Glu260Ala) rs1394263062
NM_024301.5(FKRP):c.782G>A (p.Gly261Glu)
NM_024301.5(FKRP):c.791G>C (p.Arg264Pro)
NM_024301.5(FKRP):c.821T>A (p.Ile274Asn)
NM_024301.5(FKRP):c.844G>A (p.Gly282Arg) rs2054920195
NM_024301.5(FKRP):c.848G>C (p.Arg283Pro)
NM_024301.5(FKRP):c.85C>A (p.His29Asn)
NM_024301.5(FKRP):c.874G>A (p.Glu292Lys)
NM_024301.5(FKRP):c.892G>A (p.Gly298Arg) rs886043401
NM_024301.5(FKRP):c.911C>T (p.Thr304Met)
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp) rs911700598
NM_024334.3(TMEM43):c.-3A>G rs763829810
NM_024334.3(TMEM43):c.1006T>C (p.Trp336Arg)
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu) rs17856369
NM_024334.3(TMEM43):c.1015G>A (p.Val339Ile)
NM_024334.3(TMEM43):c.1019T>G (p.Phe340Cys) rs1559363663
NM_024334.3(TMEM43):c.1034A>G (p.Asn345Ser) rs758981622
NM_024334.3(TMEM43):c.1061G>T (p.Cys354Phe) rs187262922
NM_024334.3(TMEM43):c.1079C>T (p.Thr360Ile) rs1181935816
NM_024334.3(TMEM43):c.1112A>C (p.Tyr371Ser) rs752269639
NM_024334.3(TMEM43):c.1116_1129dup (p.Leu377fs)
NM_024334.3(TMEM43):c.1129C>T (p.Leu377Phe)
NM_024334.3(TMEM43):c.1136T>C (p.Ile379Thr)
NM_024334.3(TMEM43):c.1171C>T (p.Arg391Trp) rs1574942204
NM_024334.3(TMEM43):c.1196T>G (p.Leu399Trp) rs1559363776
NM_024334.3(TMEM43):c.1201T>C (p.Ter401Arg)
NM_024334.3(TMEM43):c.131T>C (p.Leu44Pro)
NM_024334.3(TMEM43):c.143A>C (p.Tyr48Ser) rs1553602871
NM_024334.3(TMEM43):c.14A>G (p.Tyr5Cys)
NM_024334.3(TMEM43):c.17C>G (p.Ser6Cys)
NM_024334.3(TMEM43):c.19A>G (p.Ser7Gly)
NM_024334.3(TMEM43):c.1A>G (p.Met1Val) rs757083718
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val) rs766792876
NM_024334.3(TMEM43):c.227del (p.Ser76fs)
NM_024334.3(TMEM43):c.237T>G (p.Ser79Arg)
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu) rs771454768
NM_024334.3(TMEM43):c.258_261del (p.Arg87fs)
NM_024334.3(TMEM43):c.287G>C (p.Arg96Pro) rs748343919
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg) rs199943048
NM_024334.3(TMEM43):c.304T>G (p.Ser102Ala)
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly) rs201085402
NM_024334.3(TMEM43):c.322G>T (p.Val108Phe)
NM_024334.3(TMEM43):c.334G>T (p.Ala112Ser)
NM_024334.3(TMEM43):c.348del (p.Arg117fs) rs2124987856
NM_024334.3(TMEM43):c.370T>G (p.Trp124Gly)
NM_024334.3(TMEM43):c.409G>A (p.Gly137Arg)
NM_024334.3(TMEM43):c.410G>A (p.Gly137Glu) rs760628106
NM_024334.3(TMEM43):c.41A>G (p.His14Arg)
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln) rs145619906
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu) rs1369869806
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp) rs949064136
NM_024334.3(TMEM43):c.496G>A (p.Gly166Ser)
NM_024334.3(TMEM43):c.497G>T (p.Gly166Val)
NM_024334.3(TMEM43):c.541A>G (p.Thr181Ala)
NM_024334.3(TMEM43):c.545C>T (p.Ala182Val) rs1394010451
NM_024334.3(TMEM43):c.626C>A (p.Ser209Tyr) rs1553603146
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.652A>G (p.Ile218Val)
NM_024334.3(TMEM43):c.658C>A (p.Arg220Ser)
NM_024334.3(TMEM43):c.675C>G (p.Phe225Leu) rs1559361776
NM_024334.3(TMEM43):c.694A>G (p.Lys232Glu)
NM_024334.3(TMEM43):c.706-1G>T
NM_024334.3(TMEM43):c.706G>A (p.Val236Met)
NM_024334.3(TMEM43):c.718_719delinsGA (p.Arg240Asp) rs1553603172
NM_024334.3(TMEM43):c.724del (p.Ser242fs)
NM_024334.3(TMEM43):c.749dup (p.Asp251fs) rs1695151947
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg) rs1427535931
NM_024334.3(TMEM43):c.861C>G (p.His287Gln) rs886039048
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr) rs771028028
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile) rs990243563
NM_024334.3(TMEM43):c.891T>G (p.Phe297Leu)
NM_024334.3(TMEM43):c.905G>T (p.Arg302Met)
NM_024334.3(TMEM43):c.908G>A (p.Ser303Asn)
NM_024334.3(TMEM43):c.908_909delinsAT (p.Ser303Asn)
NM_024334.3(TMEM43):c.917T>C (p.Met306Thr)
NM_024334.3(TMEM43):c.917_918delinsCT (p.Met306Thr) rs1553603453
NM_024334.3(TMEM43):c.918G>T (p.Met306Ile)
NM_024334.3(TMEM43):c.946T>A (p.Trp316Arg)
NM_024334.3(TMEM43):c.955A>G (p.Met319Val)
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.971del (p.Asn324fs) rs1553603465
NM_024334.3(TMEM43):c.978G>T (p.Met326Ile)
NM_024422.6(DSC2):c.1070G>T (p.Arg357Leu)
NM_024422.6(DSC2):c.1072A>C (p.Thr358Pro)
NM_024422.6(DSC2):c.1073C>A (p.Thr358Asn) rs139399951
NM_024422.6(DSC2):c.1084A>T (p.Thr362Ser) rs1428685920
NM_024422.6(DSC2):c.1123C>G (p.Arg375Gly) rs794728075
NM_024422.6(DSC2):c.1192G>A (p.Gly398Ser) rs1060502991
NM_024422.6(DSC2):c.1204G>T (p.Gly402Cys) rs1598583039
NM_024422.6(DSC2):c.1205G>T (p.Gly402Val)
NM_024422.6(DSC2):c.1239T>G (p.Asn413Lys) rs765511398
NM_024422.6(DSC2):c.1301A>C (p.Gln434Pro)
NM_024422.6(DSC2):c.1307G>T (p.Gly436Val) rs763981974
NM_024422.6(DSC2):c.1324C>T (p.Pro442Ser) rs201480399
NM_024422.6(DSC2):c.1335A>C (p.Arg445Ser)
NM_024422.6(DSC2):c.1398T>A (p.Asp466Glu)
NM_024422.6(DSC2):c.1423A>T (p.Ile475Leu)
NM_024422.6(DSC2):c.1424T>C (p.Ile475Thr) rs1022023137
NM_024422.6(DSC2):c.142C>T (p.Leu48Phe) rs769776739
NM_024422.6(DSC2):c.1436G>A (p.Arg479His) rs774641579
NM_024422.6(DSC2):c.1472A>G (p.Asn491Ser) rs770114301
NM_024422.6(DSC2):c.1530A>C (p.Lys510Asn)
NM_024422.6(DSC2):c.1544C>T (p.Thr515Ile)
NM_024422.6(DSC2):c.158A>T (p.Asn53Ile)
NM_024422.6(DSC2):c.1601A>T (p.Asp534Val)
NM_024422.6(DSC2):c.1634ATA[1] (p.Asn546del) rs1485939608
NM_024422.6(DSC2):c.1675T>C (p.Cys559Arg)
NM_024422.6(DSC2):c.1715A>T (p.Asp572Val) rs1030017004
NM_024422.6(DSC2):c.1750A>G (p.Ile584Val) rs755041461
NM_024422.6(DSC2):c.176C>T (p.Thr59Ile)
NM_024422.6(DSC2):c.1783G>T (p.Val595Phe)
NM_024422.6(DSC2):c.1819C>T (p.Pro607Ser)
NM_024422.6(DSC2):c.1823T>A (p.Phe608Tyr)
NM_024422.6(DSC2):c.1828T>C (p.Phe610Leu)
NM_024422.6(DSC2):c.182C>A (p.Ala61Glu) rs758707293
NM_024422.6(DSC2):c.182C>G (p.Ala61Gly) rs758707293
NM_024422.6(DSC2):c.1873C>G (p.Leu625Val)
NM_024422.6(DSC2):c.1900C>T (p.Arg634Cys) rs1443409965
NM_024422.6(DSC2):c.1901G>T (p.Arg634Leu) rs200475862
NM_024422.6(DSC2):c.1925C>T (p.Pro642Leu)
NM_024422.6(DSC2):c.1934C>T (p.Ser645Leu) rs1339580561
NM_024422.6(DSC2):c.1939G>A (p.Val647Ile)
NM_024422.6(DSC2):c.1994A>G (p.Asp665Gly) rs778236763
NM_024422.6(DSC2):c.2012_2013delinsCT (p.Cys671Ser) rs869025387
NM_024422.6(DSC2):c.2038C>A (p.Arg680Ser) rs757253682
NM_024422.6(DSC2):c.2063G>A (p.Gly688Glu)
NM_024422.6(DSC2):c.2125+1G>A
NM_024422.6(DSC2):c.2132T>A (p.Leu711Gln)
NM_024422.6(DSC2):c.2138C>A (p.Thr713Lys) rs180863872
NM_024422.6(DSC2):c.216A>C (p.Gln72His) rs767293228
NM_024422.6(DSC2):c.2185C>A (p.Pro729Thr) rs1422818892
NM_024422.6(DSC2):c.2198C>T (p.Ala733Val) rs886053695
NM_024422.6(DSC2):c.2255C>T (p.Ser752Phe)
NM_024422.6(DSC2):c.2276A>C (p.Gln759Pro)
NM_024422.6(DSC2):c.2279C>G (p.Thr760Ser) rs1331111206
NM_024422.6(DSC2):c.2303T>C (p.Val768Ala)
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.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.236T>G (p.Val79Gly) rs886038828
NM_024422.6(DSC2):c.2375A>G (p.Gln792Arg)
NM_024422.6(DSC2):c.2426G>A (p.Cys809Tyr)
NM_024422.6(DSC2):c.2438A>C (p.His813Pro) rs766881629
NM_024422.6(DSC2):c.2440A>T (p.Thr814Ser)
NM_024422.6(DSC2):c.2456G>A (p.Cys819Tyr) rs773961399
NM_024422.6(DSC2):c.245C>A (p.Thr82Lys)
NM_024422.6(DSC2):c.2478G>C (p.Trp826Cys)
NM_024422.6(DSC2):c.248A>G (p.Asn83Ser)
NM_024422.6(DSC2):c.2548G>T (p.Ala850Ser)
NM_024422.6(DSC2):c.2548delinsTT (p.Ala850fs) rs794728077
NM_024422.6(DSC2):c.2582_2585dup (p.Gly863fs) rs780970079
NM_024422.6(DSC2):c.2588G>T (p.Gly863Val)
NM_024422.6(DSC2):c.2638G>A (p.Gly880Arg) rs1986686862
NM_024422.6(DSC2):c.275G>T (p.Arg92Ile)
NM_024422.6(DSC2):c.296C>A (p.Ser99Tyr)
NM_024422.6(DSC2):c.309C>A (p.Asn103Lys) rs1484070582
NM_024422.6(DSC2):c.30G>T (p.Trp10Cys) rs1555641322
NM_024422.6(DSC2):c.310C>A (p.Gln104Lys)
NM_024422.6(DSC2):c.322A>G (p.Lys108Glu)
NM_024422.6(DSC2):c.451C>A (p.Pro151Thr)
NM_024422.6(DSC2):c.475-5T>C rs1555639919
NM_024422.6(DSC2):c.574A>C (p.Thr192Pro) rs876657789
NM_024422.6(DSC2):c.68C>T (p.Ala23Val)
NM_024422.6(DSC2):c.737A>G (p.Glu246Gly) rs1057524741
NM_024422.6(DSC2):c.754A>G (p.Ile252Val) rs751996698
NM_024422.6(DSC2):c.776G>A (p.Gly259Asp) rs1335645459
NM_024422.6(DSC2):c.782C>T (p.Thr261Ile)
NM_024422.6(DSC2):c.812A>T (p.Asp271Val) rs1987412406
NM_024422.6(DSC2):c.832A>G (p.Thr278Ala)
NM_024422.6(DSC2):c.83C>A (p.Ala28Asp)
NM_024422.6(DSC2):c.860A>C (p.Gln287Pro)
NM_024422.6(DSC2):c.861_862delinsCT (p.Gln287_Val288delinsHisLeu) rs1555639508
NM_024422.6(DSC2):c.863T>G (p.Val288Gly)
NM_024422.6(DSC2):c.932T>C (p.Leu311Pro)
NM_024422.6(DSC2):c.947T>C (p.Ile316Thr)
NM_024422.6(DSC2):c.960G>C (p.Gln320His)
NM_024422.6(DSC2):c.968T>C (p.Ile323Thr)
NM_024422.6(DSC2):c.994T>C (p.Tyr332His) rs794728067
NM_030662.4(MAP2K2):c.1021G>A (p.Asp341Asn) rs564067943
NM_030662.4(MAP2K2):c.1063G>C (p.Ala355Pro)
NM_030662.4(MAP2K2):c.1117G>A (p.Glu373Lys)
NM_030662.4(MAP2K2):c.118A>C (p.Lys40Gln)
NM_030662.4(MAP2K2):c.377A>G (p.Asn126Ser)
NM_030662.4(MAP2K2):c.391G>T (p.Val131Leu)
NM_030662.4(MAP2K2):c.415A>G (p.Ser139Gly)
NM_030662.4(MAP2K2):c.44A>C (p.Asn15Thr)
NM_030662.4(MAP2K2):c.484G>A (p.Ala162Thr)
NM_030662.4(MAP2K2):c.526G>A (p.Ala176Thr) rs767381558
NM_030662.4(MAP2K2):c.577C>T (p.Arg193Ter) rs2041005560
NM_030662.4(MAP2K2):c.578G>A (p.Arg193Gln) rs530342723
NM_030662.4(MAP2K2):c.643G>T (p.Val215Leu)
NM_030662.4(MAP2K2):c.649G>A (p.Gly217Ser) rs756402608
NM_030662.4(MAP2K2):c.674A>C (p.Asn225Thr)
NM_030662.4(MAP2K2):c.712C>T (p.Arg238Trp)
NM_030662.4(MAP2K2):c.740A>C (p.Gln247Pro) rs1226120513
NM_030662.4(MAP2K2):c.743C>G (p.Ser248Trp)
NM_030662.4(MAP2K2):c.806C>G (p.Pro269Arg) rs368064728
NM_030662.4(MAP2K2):c.813C>G (p.Asp271Glu) rs201726622
NM_030662.4(MAP2K2):c.865G>A (p.Gly289Arg) rs1555696725
NM_030662.4(MAP2K2):c.872C>G (p.Pro291Arg)
NM_030662.4(MAP2K2):c.872C>T (p.Pro291Leu) rs752436529
NM_030662.4(MAP2K2):c.899C>A (p.Pro300His)
NM_030662.4(MAP2K2):c.908G>A (p.Arg303His) rs1251433138
NM_030662.4(MAP2K2):c.969C>G (p.Asp323Glu) rs768656734
NM_030662.4(MAP2K2):c.986C>T (p.Pro329Leu) rs2040904724
NM_032578.4(MYPN):c.101G>A (p.Arg34Gln) rs730880168
NM_032578.4(MYPN):c.1042G>A (p.Gly348Arg)
NM_032578.4(MYPN):c.108del (p.Glu36fs)
NM_032578.4(MYPN):c.1112A>G (p.Asn371Ser)
NM_032578.4(MYPN):c.1161T>C (p.Pro387=)
NM_032578.4(MYPN):c.1162C>T (p.Pro388Ser)
NM_032578.4(MYPN):c.118A>G (p.Asn40Asp)
NM_032578.4(MYPN):c.1196C>A (p.Pro399His)
NM_032578.4(MYPN):c.1196C>G (p.Pro399Arg)
NM_032578.4(MYPN):c.119A>T (p.Asn40Ile) rs2133993599
NM_032578.4(MYPN):c.120C>G (p.Asn40Lys)
NM_032578.4(MYPN):c.1222C>G (p.Pro408Ala)
NM_032578.4(MYPN):c.1231G>A (p.Ala411Thr)
NM_032578.4(MYPN):c.1246-1G>T
NM_032578.4(MYPN):c.1253G>A (p.Ser418Asn) rs1008949819
NM_032578.4(MYPN):c.128A>G (p.His43Arg) rs752439535
NM_032578.4(MYPN):c.1304C>T (p.Pro435Leu) rs1416910479
NM_032578.4(MYPN):c.133G>A (p.Gly45Ser) rs1297861595
NM_032578.4(MYPN):c.1350G>T (p.Gln450His)
NM_032578.4(MYPN):c.1382C>T (p.Ala461Val)
NM_032578.4(MYPN):c.1417A>G (p.Thr473Ala)
NM_032578.4(MYPN):c.1424T>C (p.Ile475Thr) rs754505802
NM_032578.4(MYPN):c.1462C>A (p.Pro488Thr)
NM_032578.4(MYPN):c.1475C>T (p.Ala492Val)
NM_032578.4(MYPN):c.1495A>G (p.Thr499Ala)
NM_032578.4(MYPN):c.149C>A (p.Ala50Asp)
NM_032578.4(MYPN):c.1516T>C (p.Phe506Leu)
NM_032578.4(MYPN):c.1522G>A (p.Glu508Lys)
NM_032578.4(MYPN):c.1549G>A (p.Ala517Thr)
NM_032578.4(MYPN):c.1586A>C (p.Gln529Pro) rs1158070956
NM_032578.4(MYPN):c.1588C>G (p.Leu530Val)
NM_032578.4(MYPN):c.158G>T (p.Gly53Val)
NM_032578.4(MYPN):c.1655A>G (p.Asn552Ser)
NM_032578.4(MYPN):c.1690C>A (p.His564Asn)
NM_032578.4(MYPN):c.1714C>G (p.Gln572Glu)
NM_032578.4(MYPN):c.1717C>G (p.Pro573Ala)
NM_032578.4(MYPN):c.1735G>A (p.Glu579Lys)
NM_032578.4(MYPN):c.1741G>C (p.Val581Leu) rs1464184643
NM_032578.4(MYPN):c.1766G>A (p.Arg589Gln)
NM_032578.4(MYPN):c.1793T>C (p.Val598Ala)
NM_032578.4(MYPN):c.17T>C (p.Ile6Thr) rs774766927
NM_032578.4(MYPN):c.1805T>C (p.Leu602Pro) rs779148735
NM_032578.4(MYPN):c.1847G>T (p.Gly616Val)
NM_032578.4(MYPN):c.1856C>T (p.Thr619Ile) rs1329226753
NM_032578.4(MYPN):c.1864C>T (p.Gln622Ter) rs1226400049
NM_032578.4(MYPN):c.1880C>A (p.Ser627Tyr)
NM_032578.4(MYPN):c.1898A>G (p.Asn633Ser)
NM_032578.4(MYPN):c.1906G>A (p.Ala636Thr)
NM_032578.4(MYPN):c.1974-3C>T
NM_032578.4(MYPN):c.1984C>G (p.Gln662Glu)
NM_032578.4(MYPN):c.1995G>C (p.Gln665His) rs753544126
NM_032578.4(MYPN):c.2038C>G (p.Pro680Ala)
NM_032578.4(MYPN):c.2066C>T (p.Pro689Leu) rs1554846787
NM_032578.4(MYPN):c.2076G>T (p.Met692Ile)
NM_032578.4(MYPN):c.2143T>C (p.Ser715Pro)
NM_032578.4(MYPN):c.2163_2164delinsAT (p.Arg722Trp)
NM_032578.4(MYPN):c.2164C>G (p.Arg722Gly) rs749716608
NM_032578.4(MYPN):c.2182C>T (p.Pro728Ser)
NM_032578.4(MYPN):c.2195C>T (p.Thr732Ile)
NM_032578.4(MYPN):c.219C>A (p.Asp73Glu) rs960869945
NM_032578.4(MYPN):c.2219C>T (p.Ser740Phe)
NM_032578.4(MYPN):c.2222G>A (p.Ser741Asn)
NM_032578.4(MYPN):c.2246G>C (p.Ser749Thr)
NM_032578.4(MYPN):c.2317A>G (p.Lys773Glu) rs760331604
NM_032578.4(MYPN):c.2342A>G (p.Gln781Arg)
NM_032578.4(MYPN):c.2347G>A (p.Glu783Lys)
NM_032578.4(MYPN):c.2351C>G (p.Pro784Arg)
NM_032578.4(MYPN):c.23C>T (p.Ala8Val)
NM_032578.4(MYPN):c.2408G>A (p.Ser803Asn)
NM_032578.4(MYPN):c.2416C>T (p.Gln806Ter)
NM_032578.4(MYPN):c.2438C>T (p.Ser813Phe)
NM_032578.4(MYPN):c.2503C>A (p.Pro835Thr) rs1196958004
NM_032578.4(MYPN):c.2510T>A (p.Leu837His)
NM_032578.4(MYPN):c.2518A>G (p.Ile840Val)
NM_032578.4(MYPN):c.2534C>A (p.Ala845Asp)
NM_032578.4(MYPN):c.2534C>T (p.Ala845Val)
NM_032578.4(MYPN):c.2540G>A (p.Gly847Glu) rs181848049
NM_032578.4(MYPN):c.2554G>A (p.Ala852Thr)
NM_032578.4(MYPN):c.2569T>A (p.Ser857Thr)
NM_032578.4(MYPN):c.2581G>A (p.Ala861Thr)
NM_032578.4(MYPN):c.2630G>A (p.Arg877His) rs371221569
NM_032578.4(MYPN):c.2643C>A (p.Asn881Lys)
NM_032578.4(MYPN):c.2669A>G (p.Lys890Arg)
NM_032578.4(MYPN):c.2683G>T (p.Asp895Tyr)
NM_032578.4(MYPN):c.269A>T (p.Lys90Met)
NM_032578.4(MYPN):c.2756G>A (p.Arg919His) rs193022869
NM_032578.4(MYPN):c.2756G>T (p.Arg919Leu) rs193022869
NM_032578.4(MYPN):c.2801A>G (p.His934Arg)
NM_032578.4(MYPN):c.2908G>A (p.Gly970Arg)
NM_032578.4(MYPN):c.2926-1G>C
NM_032578.4(MYPN):c.2926G>T (p.Val976Phe) rs943422668
NM_032578.4(MYPN):c.295C>T (p.Arg99Ter) rs756823228
NM_032578.4(MYPN):c.2968G>T (p.Glu990Ter) rs755507922
NM_032578.4(MYPN):c.2987G>A (p.Arg996Gln)
NM_032578.4(MYPN):c.2995G>A (p.Asp999Asn)
NM_032578.4(MYPN):c.3008C>G (p.Ser1003Cys)
NM_032578.4(MYPN):c.3023C>T (p.Ser1008Phe)
NM_032578.4(MYPN):c.304C>G (p.Pro102Ala)
NM_032578.4(MYPN):c.3058A>G (p.Met1020Val)
NM_032578.4(MYPN):c.3075+4G>A
NM_032578.4(MYPN):c.3099C>G (p.His1033Gln)
NM_032578.4(MYPN):c.3122T>A (p.Ile1041Asn) rs754227127
NM_032578.4(MYPN):c.3146G>A (p.Gly1049Asp) rs878855165
NM_032578.4(MYPN):c.3165A>T (p.Arg1055Ser)
NM_032578.4(MYPN):c.3169C>T (p.Arg1057Ter) rs1057519572
NM_032578.4(MYPN):c.3170G>A (p.Arg1057Gln) rs150414382
NM_032578.4(MYPN):c.3185A>C (p.Asp1062Ala)
NM_032578.4(MYPN):c.319C>T (p.His107Tyr)
NM_032578.4(MYPN):c.3246G>T (p.Met1082Ile)
NM_032578.4(MYPN):c.3257A>G (p.Glu1086Gly)
NM_032578.4(MYPN):c.3271C>T (p.Arg1091Trp) rs754707304
NM_032578.4(MYPN):c.3285+5A>G
NM_032578.4(MYPN):c.3299C>T (p.Pro1100Leu)
NM_032578.4(MYPN):c.3302C>A (p.Pro1101His)
NM_032578.4(MYPN):c.3329G>A (p.Gly1110Asp)
NM_032578.4(MYPN):c.3337G>A (p.Val1113Met)
NM_032578.4(MYPN):c.3415C>T (p.Arg1139Cys)
NM_032578.4(MYPN):c.3431A>G (p.Tyr1144Cys) rs1589612099
NM_032578.4(MYPN):c.3442G>A (p.Ala1148Thr) rs200390297
NM_032578.4(MYPN):c.3442G>T (p.Ala1148Ser) rs200390297
NM_032578.4(MYPN):c.3457G>T (p.Gly1153Trp)
NM_032578.4(MYPN):c.3464A>G (p.Asn1155Ser)
NM_032578.4(MYPN):c.3476T>A (p.Leu1159Gln) rs1422495386
NM_032578.4(MYPN):c.3479A>G (p.Glu1160Gly)
NM_032578.4(MYPN):c.3490G>T (p.Val1164Leu)
NM_032578.4(MYPN):c.3493+1G>A
NM_032578.4(MYPN):c.34A>G (p.Ile12Val) rs1564646814
NM_032578.4(MYPN):c.3515C>A (p.Pro1172His)
NM_032578.4(MYPN):c.3521T>C (p.Ile1174Thr)
NM_032578.4(MYPN):c.3524T>C (p.Leu1175Pro) rs1473139800
NM_032578.4(MYPN):c.3539A>T (p.Asn1180Ile)
NM_032578.4(MYPN):c.3553G>A (p.Glu1185Lys)
NM_032578.4(MYPN):c.3566T>C (p.Val1189Ala)
NM_032578.4(MYPN):c.3570A>C (p.Arg1190Ser) rs373439318
NM_032578.4(MYPN):c.3580C>T (p.Arg1194Cys) rs762310456
NM_032578.4(MYPN):c.3581G>A (p.Arg1194His)
NM_032578.4(MYPN):c.3595C>T (p.Pro1199Ser)
NM_032578.4(MYPN):c.359A>G (p.Asp120Gly)
NM_032578.4(MYPN):c.360T>A (p.Asp120Glu) rs794729068
NM_032578.4(MYPN):c.3618G>T (p.Lys1206Asn)
NM_032578.4(MYPN):c.3634A>G (p.Ile1212Val)
NM_032578.4(MYPN):c.3635T>A (p.Ile1212Asn)
NM_032578.4(MYPN):c.363C>G (p.Asn121Lys)
NM_032578.4(MYPN):c.3646A>G (p.Arg1216Gly) rs1589614570
NM_032578.4(MYPN):c.3660-3C>T
NM_032578.4(MYPN):c.3738G>C (p.Leu1246Phe)
NM_032578.4(MYPN):c.3758G>A (p.Gly1253Asp)
NM_032578.4(MYPN):c.3789A>G (p.Ile1263Met)
NM_032578.4(MYPN):c.3793G>A (p.Ala1265Thr) rs199476416
NM_032578.4(MYPN):c.3808C>G (p.Gln1270Glu) rs730880169
NM_032578.4(MYPN):c.3809A>G (p.Gln1270Arg)
NM_032578.4(MYPN):c.3839G>A (p.Ser1280Asn)
NM_032578.4(MYPN):c.3854G>A (p.Gly1285Glu)
NM_032578.4(MYPN):c.3863C>T (p.Thr1288Ile)
NM_032578.4(MYPN):c.3868A>G (p.Lys1290Glu)
NM_032578.4(MYPN):c.391A>G (p.Ser131Gly)
NM_032578.4(MYPN):c.3929C>G (p.Ser1310Cys)
NM_032578.4(MYPN):c.394C>A (p.Pro132Thr)
NM_032578.4(MYPN):c.398dup (p.Glu134fs)
NM_032578.4(MYPN):c.404C>G (p.Ala135Gly) rs141983653
NM_032578.4(MYPN):c.509C>G (p.Ser170Cys)
NM_032578.4(MYPN):c.50G>A (p.Arg17Lys)
NM_032578.4(MYPN):c.518T>A (p.Ile173Asn) rs2042249791
NM_032578.4(MYPN):c.539A>T (p.Asn180Ile)
NM_032578.4(MYPN):c.576G>T (p.Met192Ile)
NM_032578.4(MYPN):c.625TCT[1] (p.Ser210del) rs749944961
NM_032578.4(MYPN):c.638T>A (p.Ile213Asn)
NM_032578.4(MYPN):c.638T>C (p.Ile213Thr)
NM_032578.4(MYPN):c.647C>T (p.Pro216Leu)
NM_032578.4(MYPN):c.662A>G (p.Asp221Gly) rs185841477
NM_032578.4(MYPN):c.662A>T (p.Asp221Val) rs185841477
NM_032578.4(MYPN):c.67G>A (p.Glu23Lys)
NM_032578.4(MYPN):c.702G>C (p.Lys234Asn) rs1589529109
NM_032578.4(MYPN):c.707G>A (p.Arg236His)
NM_032578.4(MYPN):c.716A>G (p.Glu239Gly)
NM_032578.4(MYPN):c.729T>G (p.Ser243Arg) rs794727304
NM_032578.4(MYPN):c.746A>G (p.Asp249Gly)
NM_032578.4(MYPN):c.791C>T (p.Pro264Leu)
NM_032578.4(MYPN):c.794T>C (p.Leu265Pro) rs766534329
NM_032578.4(MYPN):c.805C>A (p.Pro269Thr) rs560119421
NM_032578.4(MYPN):c.832A>G (p.Arg278Gly)
NM_032578.4(MYPN):c.842C>A (p.Pro281Gln)
NM_032578.4(MYPN):c.872T>A (p.Ile291Lys)
NM_032578.4(MYPN):c.94_95del (p.Arg32fs)
NM_033337.3(CAV3):c.10_17del (p.Glu4fs) rs778914298
NM_033337.3(CAV3):c.110T>C (p.Val37Ala) rs886039060
NM_033337.3(CAV3):c.162T>G (p.Phe54Leu)
NM_033337.3(CAV3):c.164A>G (p.Asp55Gly)
NM_033337.3(CAV3):c.245T>C (p.Val82Ala)
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.3(CAV3):c.277G>T (p.Ala93Ser) rs28936686
NM_033337.3(CAV3):c.284T>A (p.Ile95Asn)
NM_033337.3(CAV3):c.316T>C (p.Cys106Arg)
NM_033337.3(CAV3):c.32C>T (p.Ala11Val) rs867194464
NM_033337.3(CAV3):c.337G>A (p.Glu113Lys) rs921802744
NM_033337.3(CAV3):c.361T>A (p.Tyr121Asn)
NM_033337.3(CAV3):c.372C>G (p.Cys124Trp)
NM_033337.3(CAV3):c.37A>G (p.Ile13Val)
NM_033337.3(CAV3):c.400G>C (p.Ala134Pro)
NM_033337.3(CAV3):c.401C>A (p.Ala134Glu)
NM_033337.3(CAV3):c.46G>A (p.Asp16Asn) rs1707652520
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter) rs1182984115
NM_033337.3(CAV3):c.60G>T (p.Lys20Asn)
NM_033337.3(CAV3):c.95T>C (p.Ile32Thr)
NM_080647.1(TBX1):c.14C>T (p.Thr5Ile)
NM_080647.1(TBX1):c.26A>T (p.Asp9Val)
NM_130468.4(CHST14):c.1000G>A (p.Glu334Lys)
NM_130468.4(CHST14):c.1007T>C (p.Leu336Pro)
NM_130468.4(CHST14):c.1019T>C (p.Leu340Ser)
NM_130468.4(CHST14):c.1021T>C (p.Cys341Arg)
NM_130468.4(CHST14):c.1033C>T (p.Arg345Trp) rs372422727
NM_130468.4(CHST14):c.1046A>T (p.Gln349Leu)
NM_130468.4(CHST14):c.104G>C (p.Gly35Ala)
NM_130468.4(CHST14):c.10C>T (p.Arg4Cys)
NM_130468.4(CHST14):c.1109C>G (p.Thr370Ser)
NM_130468.4(CHST14):c.1117G>T (p.Ala373Ser) rs748434505
NM_130468.4(CHST14):c.125C>T (p.Pro42Leu)
NM_130468.4(CHST14):c.183G>C (p.Glu61Asp)
NM_130468.4(CHST14):c.23C>T (p.Pro8Leu)
NM_130468.4(CHST14):c.289G>C (p.Ala97Pro)
NM_130468.4(CHST14):c.301G>A (p.Asp101Asn)
NM_130468.4(CHST14):c.34C>T (p.Pro12Ser)
NM_130468.4(CHST14):c.352G>A (p.Gly118Arg)
NM_130468.4(CHST14):c.371G>A (p.Arg124Gln)
NM_130468.4(CHST14):c.37A>G (p.Asn13Asp)
NM_130468.4(CHST14):c.427G>A (p.Val143Ile)
NM_130468.4(CHST14):c.436C>G (p.Arg146Gly) rs1007569346
NM_130468.4(CHST14):c.43G>C (p.Ala15Pro) rs1235160320
NM_130468.4(CHST14):c.43G>T (p.Ala15Ser)
NM_130468.4(CHST14):c.448C>T (p.Leu150Phe)
NM_130468.4(CHST14):c.48G>T (p.Glu16Asp)
NM_130468.4(CHST14):c.49C>T (p.Pro17Ser)
NM_130468.4(CHST14):c.507_508delinsTT (p.Ala170Ser) rs1894350607
NM_130468.4(CHST14):c.594G>C (p.Glu198Asp)
NM_130468.4(CHST14):c.59G>C (p.Arg20Pro)
NM_130468.4(CHST14):c.61G>T (p.Ala21Ser)
NM_130468.4(CHST14):c.652C>T (p.Arg218Cys)
NM_130468.4(CHST14):c.655C>T (p.Leu219Phe)
NM_130468.4(CHST14):c.686A>G (p.Glu229Gly) rs1043019552
NM_130468.4(CHST14):c.691C>G (p.Arg231Gly)
NM_130468.4(CHST14):c.710A>G (p.Tyr237Cys)
NM_130468.4(CHST14):c.71G>T (p.Arg24Leu)
NM_130468.4(CHST14):c.73G>T (p.Ala25Ser)
NM_130468.4(CHST14):c.764G>C (p.Gly255Ala)
NM_130468.4(CHST14):c.778T>C (p.Phe260Leu)
NM_130468.4(CHST14):c.799C>G (p.Leu267Val)
NM_130468.4(CHST14):c.83G>T (p.Gly28Val)
NM_130468.4(CHST14):c.863C>T (p.Pro288Leu)
NM_130468.4(CHST14):c.88G>A (p.Ala30Thr)
NM_130468.4(CHST14):c.94G>C (p.Ala32Pro)
NM_130468.4(CHST14):c.95C>T (p.Ala32Val)
NM_130468.4(CHST14):c.970C>T (p.Arg324Cys)
NM_130468.4(CHST14):c.971G>A (p.Arg324His)
NM_130468.4(CHST14):c.985C>T (p.Arg329Trp)
NM_133378.4:c.86951_86953delGGA
NM_144573.3(NEXN):c.2026_*1del rs794729094
NM_144573.3:c.1216_1217insALU
NM_144573.4(NEXN):c.-1C>T
NM_144573.4(NEXN):c.1002_1004del (p.Arg336del) rs794729090
NM_144573.4(NEXN):c.1004G>A (p.Arg335Lys)
NM_144573.4(NEXN):c.1014G>C (p.Glu338Asp)
NM_144573.4(NEXN):c.1015G>A (p.Glu339Lys)
NM_144573.4(NEXN):c.1021AAG[1] (p.Lys342del)
NM_144573.4(NEXN):c.1024A>G (p.Lys342Glu)
NM_144573.4(NEXN):c.1025A>C (p.Lys342Thr)
NM_144573.4(NEXN):c.1028C>T (p.Ala343Val) rs769073940
NM_144573.4(NEXN):c.1030T>G (p.Phe344Val)
NM_144573.4(NEXN):c.103T>G (p.Phe35Val)
NM_144573.4(NEXN):c.1051A>G (p.Met351Val)
NM_144573.4(NEXN):c.1055T>C (p.Val352Ala) rs1040085867
NM_144573.4(NEXN):c.1064A>G (p.Asp355Gly)
NM_144573.4(NEXN):c.1070C>T (p.Ser357Phe)
NM_144573.4(NEXN):c.1073C>T (p.Pro358Leu) rs755252743
NM_144573.4(NEXN):c.1121T>G (p.Leu374Arg)
NM_144573.4(NEXN):c.1162G>A (p.Glu388Lys)
NM_144573.4(NEXN):c.1175G>T (p.Arg392Leu)
NM_144573.4(NEXN):c.1186G>A (p.Glu396Lys)
NM_144573.4(NEXN):c.1201C>G (p.Leu401Val)
NM_144573.4(NEXN):c.1202T>C (p.Leu401Pro)
NM_144573.4(NEXN):c.1249G>A (p.Glu417Lys)
NM_144573.4(NEXN):c.1316G>A (p.Arg439Lys)
NM_144573.4(NEXN):c.1385A>T (p.Glu462Val)
NM_144573.4(NEXN):c.1390C>T (p.Gln464Ter)
NM_144573.4(NEXN):c.1400del (p.Ile467fs)
NM_144573.4(NEXN):c.1401AGA[2] (p.Glu470del) rs397517846
NM_144573.4(NEXN):c.1407A>C (p.Glu469Asp)
NM_144573.4(NEXN):c.1407delinsGC (p.Glu470fs)
NM_144573.4(NEXN):c.1417A>G (p.Arg473Gly)
NM_144573.4(NEXN):c.142del (p.Arg48fs)
NM_144573.4(NEXN):c.1430T>G (p.Ile477Ser) rs727504658
NM_144573.4(NEXN):c.1457C>G (p.Ala486Gly) rs397517847
NM_144573.4(NEXN):c.1473G>A (p.Glu491=)
NM_144573.4(NEXN):c.1477G>A (p.Asp493Asn) rs1553241790
NM_144573.4(NEXN):c.1478ATG[1] (p.Asp494del) rs1064796362
NM_144573.4(NEXN):c.1481A>T (p.Asp494Val) rs750183004
NM_144573.4(NEXN):c.1484T>C (p.Val495Ala)
NM_144573.4(NEXN):c.1502del (p.Arg501fs) rs1425668712
NM_144573.4(NEXN):c.1510G>A (p.Glu504Lys)
NM_144573.4(NEXN):c.1537A>G (p.Met513Val)
NM_144573.4(NEXN):c.1568C>T (p.Ala523Val)
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144573.4(NEXN):c.1589_1590del (p.Arg530fs) rs869025492
NM_144573.4(NEXN):c.1604A>G (p.Gln535Arg)
NM_144573.4(NEXN):c.1634G>C (p.Arg545Thr)
NM_144573.4(NEXN):c.1652T>C (p.Leu551Pro)
NM_144573.4(NEXN):c.1666G>C (p.Glu556Gln)
NM_144573.4(NEXN):c.1671GGA[5] (p.Glu562dup) rs397517848
NM_144573.4(NEXN):c.1671_1672insCTT (p.Glu557_Glu558insLeu)
NM_144573.4(NEXN):c.1672G>A (p.Glu558Lys) rs927477236
NM_144573.4(NEXN):c.167GAA[1] (p.Arg57del) rs1435048653
NM_144573.4(NEXN):c.1744C>T (p.Pro582Ser)
NM_144573.4(NEXN):c.1757A>G (p.Lys586Arg)
NM_144573.4(NEXN):c.176A>G (p.Glu59Gly) rs1219781969
NM_144573.4(NEXN):c.1774T>A (p.Ser592Thr)
NM_144573.4(NEXN):c.1789G>A (p.Glu597Lys)
NM_144573.4(NEXN):c.1796T>G (p.Val599Gly)
NM_144573.4(NEXN):c.1819G>A (p.Gly607Arg)
NM_144573.4(NEXN):c.1820_1822del (p.Gly607del) rs876657928
NM_144573.4(NEXN):c.1826C>G (p.Pro609Arg)
NM_144573.4(NEXN):c.1855G>A (p.Gly619Arg)
NM_144573.4(NEXN):c.1867C>T (p.Gln623Ter)
NM_144573.4(NEXN):c.1898G>C (p.Arg633Thr)
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs) rs775629965
NM_144573.4(NEXN):c.1918_1922del (p.Tyr640fs) rs1222794437
NM_144573.4(NEXN):c.1922T>G (p.Leu641Ter)
NM_144573.4(NEXN):c.1924C>G (p.Pro642Ala)
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_144573.4(NEXN):c.1948G>A (p.Gly650Arg)
NM_144573.4(NEXN):c.1952_1953del (p.Glu651fs) rs1553242326
NM_144573.4(NEXN):c.1958T>C (p.Met653Thr)
NM_144573.4(NEXN):c.1976A>G (p.Asn659Ser)
NM_144573.4(NEXN):c.2001dup (p.Ile668fs)
NM_144573.4(NEXN):c.2002A>G (p.Ile668Val)
NM_144573.4(NEXN):c.2019_2022del (p.Ser673fs)
NM_144573.4(NEXN):c.214C>A (p.Gln72Lys)
NM_144573.4(NEXN):c.227A>G (p.Glu76Gly)
NM_144573.4(NEXN):c.247G>A (p.Glu83Lys)
NM_144573.4(NEXN):c.254A>G (p.Asp85Gly)
NM_144573.4(NEXN):c.25_27+2del
NM_144573.4(NEXN):c.27G>A (p.Glu9=)
NM_144573.4(NEXN):c.293T>A (p.Leu98Ter)
NM_144573.4(NEXN):c.29T>G (p.Ile10Ser)
NM_144573.4(NEXN):c.320C>T (p.Ala107Val)
NM_144573.4(NEXN):c.32T>C (p.Leu11Pro)
NM_144573.4(NEXN):c.345G>C (p.Glu115Asp)
NM_144573.4(NEXN):c.362C>T (p.Thr121Met)
NM_144573.4(NEXN):c.374G>A (p.Arg125Gln) rs747265816
NM_144573.4(NEXN):c.392A>C (p.Gln131Pro) rs397517858
NM_144573.4(NEXN):c.399G>A (p.Met133Ile)
NM_144573.4(NEXN):c.403G>A (p.Glu135Lys)
NM_144573.4(NEXN):c.408G>T (p.Lys136Asn)
NM_144573.4(NEXN):c.408_415dup (p.Ile139fs)
NM_144573.4(NEXN):c.416T>C (p.Ile139Thr)
NM_144573.4(NEXN):c.431C>G (p.Ala144Gly)
NM_144573.4(NEXN):c.450T>A (p.Ile150=) rs1064797051
NM_144573.4(NEXN):c.457A>G (p.Ile153Val)
NM_144573.4(NEXN):c.461_464del (p.Asn154fs) rs794729088
NM_144573.4(NEXN):c.467C>T (p.Thr156Met)
NM_144573.4(NEXN):c.46A>G (p.Lys16Glu)
NM_144573.4(NEXN):c.474T>C (p.Thr158=)
NM_144573.4(NEXN):c.487G>C (p.Glu163Gln)
NM_144573.4(NEXN):c.491A>G (p.Glu164Gly) rs1553238441
NM_144573.4(NEXN):c.494G>C (p.Gly165Ala)
NM_144573.4(NEXN):c.50C>G (p.Pro17Arg)
NM_144573.4(NEXN):c.561G>T (p.Lys187Asn)
NM_144573.4(NEXN):c.583G>C (p.Glu195Gln)
NM_144573.4(NEXN):c.587G>A (p.Arg196His)
NM_144573.4(NEXN):c.595A>G (p.Lys199Glu) rs1354265495
NM_144573.4(NEXN):c.609G>C (p.Lys203Asn)
NM_144573.4(NEXN):c.634T>C (p.Tyr212His)
NM_144573.4(NEXN):c.644A>G (p.Gln215Arg) rs2102123963
NM_144573.4(NEXN):c.685A>C (p.Met229Leu)
NM_144573.4(NEXN):c.696A>T (p.Glu232Asp) rs1173550376
NM_144573.4(NEXN):c.700del (p.Glu234fs)
NM_144573.4(NEXN):c.70C>G (p.Pro24Ala)
NM_144573.4(NEXN):c.730C>T (p.Pro244Ser)
NM_144573.4(NEXN):c.752T>G (p.Phe251Cys) rs554389574
NM_144573.4(NEXN):c.769C>A (p.Gln257Lys)
NM_144573.4(NEXN):c.784C>T (p.Arg262Ter) rs1002648603
NM_144573.4(NEXN):c.794A>C (p.Gln265Pro) rs1649888139
NM_144573.4(NEXN):c.7_9del (p.Asp3del) rs760463744
NM_144573.4(NEXN):c.80G>T (p.Gly27Val)
NM_144573.4(NEXN):c.842T>C (p.Phe281Ser)
NM_144573.4(NEXN):c.848A>T (p.Glu283Val) rs374691663
NM_144573.4(NEXN):c.859C>T (p.Gln287Ter) rs1402442744
NM_144573.4(NEXN):c.864G>T (p.Met288Ile) rs371666396
NM_144573.4(NEXN):c.865-1G>A
NM_144573.4(NEXN):c.865-4T>C rs542794485
NM_144573.4(NEXN):c.8A>T (p.Asp3Val)
NM_144573.4(NEXN):c.980G>T (p.Arg327Met)
NM_144573.4(NEXN):c.98A>G (p.Asp33Gly)
NM_144573.4(NEXN):c.994G>A (p.Glu332Lys)
NM_145046.5(CALR3):c.833G>A (p.Arg278His) rs1247489343
NM_152594.3(SPRED1):c.1045A>T (p.Arg349Trp)
NM_152594.3(SPRED1):c.1112G>A (p.Cys371Tyr)
NM_152594.3(SPRED1):c.1147T>C (p.Ser383Pro)
NM_152594.3(SPRED1):c.1186A>G (p.Ser396Gly)
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)
NM_152594.3(SPRED1):c.1232C>G (p.Ser411Cys)
NM_152594.3(SPRED1):c.233A>G (p.Lys78Arg)
NM_152594.3(SPRED1):c.28A>G (p.Asn10Asp)
NM_152594.3(SPRED1):c.365A>T (p.Asp122Val)
NM_152594.3(SPRED1):c.376+15C>A
NM_152594.3(SPRED1):c.403G>C (p.Glu135Gln) rs1595748136
NM_152594.3(SPRED1):c.455T>C (p.Val152Ala) rs1895993159
NM_152594.3(SPRED1):c.515A>C (p.Asn172Thr)
NM_152594.3(SPRED1):c.523C>A (p.Pro175Thr)
NM_152594.3(SPRED1):c.527C>T (p.Ser176Phe) rs1895995078
NM_152594.3(SPRED1):c.535G>A (p.Glu179Lys)
NM_152594.3(SPRED1):c.547G>A (p.Ala183Thr)
NM_152594.3(SPRED1):c.593G>C (p.Gly198Ala)
NM_152594.3(SPRED1):c.599C>T (p.Pro200Leu)
NM_152594.3(SPRED1):c.631T>C (p.Tyr211His)
NM_152594.3(SPRED1):c.668T>A (p.Leu223Gln)
NM_152594.3(SPRED1):c.758T>G (p.Ile253Ser)
NM_152594.3(SPRED1):c.770G>T (p.Arg257Leu)
NM_152594.3(SPRED1):c.829G>A (p.Asp277Asn)
NM_152594.3(SPRED1):c.877C>G (p.Leu293Val)
NM_152594.3(SPRED1):c.913C>A (p.Pro305Thr)
NM_152594.3(SPRED1):c.989G>A (p.Gly330Asp) rs1461391044
NM_170707.4(LMNA):c.1033A>T (p.Met345Leu)
NM_170707.4(LMNA):c.1046G>T (p.Arg349Leu) rs58789393
NM_170707.4(LMNA):c.1053G>C (p.Arg351Ser)
NM_170707.4(LMNA):c.1058AGC[4] (p.Gln355_Leu356insGln)
NM_170707.4(LMNA):c.1069G>A (p.Asp357Asn) rs267607567
NM_170707.4(LMNA):c.1080G>C (p.Gln360His)
NM_170707.4(LMNA):c.1090G>A (p.Asp364Asn) rs878855231
NM_170707.4(LMNA):c.109G>A (p.Glu37Lys) rs1354642495
NM_170707.4(LMNA):c.1103C>T (p.Ala368Val)
NM_170707.4(LMNA):c.1115A>T (p.Glu372Val) rs2102888292
NM_170707.4(LMNA):c.1198G>A (p.Gly400Ser)
NM_170707.4(LMNA):c.1234G>T (p.Gly412Trp) rs966050612
NM_170707.4(LMNA):c.1237G>A (p.Gly413Ser)
NM_170707.4(LMNA):c.1268C>T (p.Ser423Phe)
NM_170707.4(LMNA):c.1279C>G (p.Arg427Gly)
NM_170707.4(LMNA):c.1312G>A (p.Gly438Arg) rs766932100
NM_170707.4(LMNA):c.1333G>A (p.Val445Met)
NM_170707.4(LMNA):c.1380+3A>G rs1487175603
NM_170707.4(LMNA):c.1388C>A (p.Ser463Tyr)
NM_170707.4(LMNA):c.1422_1424dup (p.Gly474_Asp475insGlu) rs267607579
NM_170707.4(LMNA):c.1426G>T (p.Asp476Tyr) rs886039032
NM_170707.4(LMNA):c.1488+1G>A rs267607640
NM_170707.4(LMNA):c.1501G>A (p.Gly501Arg)
NM_170707.4(LMNA):c.1531G>A (p.Asp511Asn) rs759408439
NM_170707.4(LMNA):c.1577_1582dup (p.Arg527_Thr528insMetArg)
NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) rs60580541
NM_170707.4(LMNA):c.1600A>G (p.Thr534Ala) rs1311820114
NM_170707.4(LMNA):c.1637C>T (p.Ser546Leu) rs886038995
NM_170707.4(LMNA):c.1745G>T (p.Arg582Leu) rs57830985
NM_170707.4(LMNA):c.1766G>A (p.Gly589Glu)
NM_170707.4(LMNA):c.1784C>T (p.Ala595Val)
NM_170707.4(LMNA):c.178C>A (p.Arg60Ser)
NM_170707.4(LMNA):c.1826G>A (p.Gly609Glu)
NM_170707.4(LMNA):c.1837T>C (p.Ser613Pro) rs147627124
NM_170707.4(LMNA):c.1873_1874delinsCC (p.Ser625Pro) rs1553266553
NM_170707.4(LMNA):c.212G>T (p.Ser71Ile)
NM_170707.4(LMNA):c.215G>T (p.Arg72Leu) rs727504340
NM_170707.4(LMNA):c.236C>A (p.Ala79Asp) rs1553261972
NM_170707.4(LMNA):c.250G>A (p.Glu84Lys) rs794728602
NM_170707.4(LMNA):c.251A>G (p.Glu84Gly)
NM_170707.4(LMNA):c.254T>G (p.Leu85Arg) rs28933090
NM_170707.4(LMNA):c.257G>A (p.Gly86Glu)
NM_170707.4(LMNA):c.313G>A (p.Glu105Lys)
NM_170707.4(LMNA):c.31C>T (p.Arg11Cys)
NM_170707.4(LMNA):c.346C>T (p.Leu116=) rs876657491
NM_170707.4(LMNA):c.350A>C (p.Lys117Thr)
NM_170707.4(LMNA):c.369G>T (p.Lys123Asn)
NM_170707.4(LMNA):c.470C>A (p.Thr157Lys)
NM_170707.4(LMNA):c.470C>G (p.Thr157Arg) rs754097769
NM_170707.4(LMNA):c.470C>T (p.Thr157Met) rs754097769
NM_170707.4(LMNA):c.478G>C (p.Gly160Arg) rs765665953
NM_170707.4(LMNA):c.4G>A (p.Glu2Lys)
NM_170707.4(LMNA):c.521C>A (p.Ala174Glu) rs762153472
NM_170707.4(LMNA):c.593A>G (p.Gln198Arg)
NM_170707.4(LMNA):c.610C>G (p.Leu204Val) rs1553265177
NM_170707.4(LMNA):c.631T>A (p.Tyr211Asn)
NM_170707.4(LMNA):c.634A>C (p.Ser212Arg)
NM_170707.4(LMNA):c.710T>C (p.Phe237Ser) rs730880132
NM_170707.4(LMNA):c.719G>A (p.Arg240Gln)
NM_170707.4(LMNA):c.71C>G (p.Thr24Ser) rs1195524446
NM_170707.4(LMNA):c.727G>A (p.Asp243Asn)
NM_170707.4(LMNA):c.743T>C (p.Leu248Pro) rs58850446
NM_170707.4(LMNA):c.748G>A (p.Ala250Thr) rs1572360042
NM_170707.4(LMNA):c.787C>A (p.Leu263Met) rs750246389
NM_170707.4(LMNA):c.877C>G (p.Gln293Glu) rs1553265455
NM_170707.4(LMNA):c.883T>C (p.Ser295Pro) rs267607633
NM_170707.4(LMNA):c.924G>T (p.Gln308His)
NM_170707.4(LMNA):c.936+2T>C rs797045011
NM_170707.4(LMNA):c.937-3C>T
NM_170707.4(LMNA):c.937-5T>C rs1001248677
NM_170707.4(LMNA):c.970G>A (p.Glu324Lys)
NM_170707.4(LMNA):c.974A>G (p.Asp325Gly)
NM_170707.4(LMNA):c.985C>T (p.Arg329Cys) rs775159300
NM_170707.4(LMNA):c.988G>C (p.Glu330Gln)
NM_172057.2(KCNH2):c.2078_2080dup (p.Arg693_Pro694insArg) rs1060499872
NM_172201.2(KCNE2):c.140A>G (p.Tyr47Cys)
NM_172201.2(KCNE2):c.177G>A (p.Met59Ile)
NM_172201.2(KCNE2):c.181T>C (p.Ser61Pro)
NM_172201.2(KCNE2):c.201C>G (p.Ile67Met)
NM_172201.2(KCNE2):c.236A>G (p.His79Arg)
NM_172201.2(KCNE2):c.23C>T (p.Thr8Ile)
NM_172201.2(KCNE2):c.243T>A (p.Asn81Lys)
NM_172201.2(KCNE2):c.25C>T (p.Gln9Ter) rs16991652
NM_172201.2(KCNE2):c.260A>G (p.Tyr87Cys)
NM_172201.2(KCNE2):c.292A>C (p.Ser98Arg)
NM_172201.2(KCNE2):c.298A>C (p.Ile100Leu)
NM_172201.2(KCNE2):c.326C>T (p.Thr109Ile)
NM_172201.2(KCNE2):c.331C>T (p.His111Tyr)
NM_172201.2(KCNE2):c.350C>T (p.Ala117Val)
NM_172201.2(KCNE2):c.362T>C (p.Met121Thr)
NM_172201.2(KCNE2):c.41T>A (p.Val14Asp)
NM_174934.4(SCN4B):c.104T>C (p.Val35Ala)
NM_174934.4(SCN4B):c.183C>G (p.Phe61Leu)
NM_174934.4(SCN4B):c.200G>A (p.Arg67Gln)
NM_174934.4(SCN4B):c.223G>A (p.Ala75Thr)
NM_174934.4(SCN4B):c.231G>C (p.Lys77Asn)
NM_174934.4(SCN4B):c.234+1G>A rs1341627207
NM_174934.4(SCN4B):c.234+1G>C
NM_174934.4(SCN4B):c.234+1G>T
NM_174934.4(SCN4B):c.23_24delinsAA (p.Gly8Glu)
NM_174934.4(SCN4B):c.2T>G (p.Met1Arg) rs764844756
NM_174934.4(SCN4B):c.335ACA[1] (p.Asn113del) rs750839173
NM_174934.4(SCN4B):c.336C>G (p.Asn112Lys)
NM_174934.4(SCN4B):c.368T>A (p.Phe123Tyr)
NM_174934.4(SCN4B):c.373G>C (p.Asp125His)
NM_174934.4(SCN4B):c.395A>G (p.His132Arg)
NM_174934.4(SCN4B):c.439A>T (p.Ile147Phe)
NM_174934.4(SCN4B):c.451G>A (p.Val151Ile)
NM_174934.4(SCN4B):c.455T>C (p.Val152Ala)
NM_174934.4(SCN4B):c.458A>G (p.Asp153Gly)
NM_174934.4(SCN4B):c.491T>A (p.Leu164His)
NM_174934.4(SCN4B):c.491_492delinsAG (p.Leu164Gln)
NM_174934.4(SCN4B):c.508G>A (p.Val170Met)
NM_174934.4(SCN4B):c.538A>C (p.Ile180Leu)
NM_174934.4(SCN4B):c.556C>G (p.Leu186Val)
NM_174934.4(SCN4B):c.55_56delinsGA (p.Leu19Asp)
NM_174934.4(SCN4B):c.583C>T (p.Arg195Trp) rs945490950
NM_174934.4(SCN4B):c.589A>T (p.Lys197Ter)
NM_174934.4(SCN4B):c.610A>G (p.Ser204Gly)
NM_174934.4(SCN4B):c.636_637dup (p.Asn213fs)
NM_174934.4(SCN4B):c.641G>T (p.Gly214Val)
NM_174934.4(SCN4B):c.673C>G (p.Pro225Ala)
NM_174934.4(SCN4B):c.686G>C (p.Ter229Ser)
NM_174934.4(SCN4B):c.7G>A (p.Gly3Arg)
NM_174934.4(SCN4B):c.90G>T (p.Ser30=)
NM_174936.4(PCSK9):c.107G>A (p.Gly36Asp)
NM_174936.4(PCSK9):c.1090C>T (p.Pro364Ser)
NM_174936.4(PCSK9):c.1099G>T (p.Asp367Tyr) rs141867978
NM_174936.4(PCSK9):c.111C>A (p.Asp37Glu)
NM_174936.4(PCSK9):c.122T>A (p.Leu41Gln)
NM_174936.4(PCSK9):c.1241G>A (p.Arg414Lys)
NM_174936.4(PCSK9):c.1325C>T (p.Ala442Val)
NM_174936.4(PCSK9):c.1381T>C (p.Trp461Arg)
NM_174936.4(PCSK9):c.1390C>G (p.His464Asp)
NM_174936.4(PCSK9):c.1392C>G (p.His464Gln)
NM_174936.4(PCSK9):c.1397G>A (p.Gly466Glu)
NM_174936.4(PCSK9):c.1436C>T (p.Pro479Leu) rs2100326132
NM_174936.4(PCSK9):c.1447C>G (p.Leu483Val) rs1570307690
NM_174936.4(PCSK9):c.1469C>T (p.Ser490Phe)
NM_174936.4(PCSK9):c.1473G>T (p.Arg491Ser)
NM_174936.4(PCSK9):c.147G>C (p.Glu49Asp)
NM_174936.4(PCSK9):c.1496G>C (p.Arg499Pro) rs143394031
NM_174936.4(PCSK9):c.1496G>T (p.Arg499Leu) rs143394031
NM_174936.4(PCSK9):c.1498A>G (p.Met500Val)
NM_174936.4(PCSK9):c.151G>T (p.Gly51Cys)
NM_174936.4(PCSK9):c.1550G>T (p.Gly517Val) rs1182044412
NM_174936.4(PCSK9):c.1555G>A (p.Gly519Ser) rs2100330525
NM_174936.4(PCSK9):c.155T>C (p.Leu52Pro)
NM_174936.4(PCSK9):c.1570G>A (p.Ala524Thr)
NM_174936.4(PCSK9):c.158C>G (p.Ala53Gly) rs11583680
NM_174936.4(PCSK9):c.1646G>T (p.Arg549Leu)
NM_174936.4(PCSK9):c.1695C>G (p.His565Gln)
NM_174936.4(PCSK9):c.1838A>G (p.His613Arg)
NM_174936.4(PCSK9):c.185C>A (p.Ala62Asp) rs886039839
NM_174936.4(PCSK9):c.1877G>A (p.Cys626Tyr)
NM_174936.4(PCSK9):c.1877G>C (p.Cys626Ser)
NM_174936.4(PCSK9):c.1897A>G (p.Thr633Ala) rs1002152564
NM_174936.4(PCSK9):c.1918G>C (p.Gly640Arg)
NM_174936.4(PCSK9):c.1952A>G (p.Asp651Gly) rs1644777850
NM_174936.4(PCSK9):c.1956C>A (p.Asn652Lys)
NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)
NM_174936.4(PCSK9):c.1974C>A (p.Ser658Arg)
NM_174936.4(PCSK9):c.1976G>C (p.Arg659Pro)
NM_174936.4(PCSK9):c.197G>A (p.Arg66His)
NM_174936.4(PCSK9):c.2027C>G (p.Ala676Gly)
NM_174936.4(PCSK9):c.206A>T (p.Lys69Met)
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.4(PCSK9):c.230C>T (p.Thr77Ile)
NM_174936.4(PCSK9):c.235G>A (p.Val79Met)
NM_174936.4(PCSK9):c.257C>G (p.Thr86Ser)
NM_174936.4(PCSK9):c.266C>G (p.Ser89Trp) rs771978846
NM_174936.4(PCSK9):c.299C>G (p.Ala100Gly) rs1484569818
NM_174936.4(PCSK9):c.385G>A (p.Asp129Asn)
NM_174936.4(PCSK9):c.392T>C (p.Leu131Pro)
NM_174936.4(PCSK9):c.436G>A (p.Asp146Asn)
NM_174936.4(PCSK9):c.452C>T (p.Ala151Val)
NM_174936.4(PCSK9):c.494G>A (p.Arg165Gln) rs372165281
NM_174936.4(PCSK9):c.524-5G>A
NM_174936.4(PCSK9):c.556G>C (p.Asp186His)
NM_174936.4(PCSK9):c.557A>G (p.Asp186Gly)
NM_174936.4(PCSK9):c.670G>C (p.Asp224His)
NM_174936.4(PCSK9):c.683C>G (p.Thr228Ser)
NM_174936.4(PCSK9):c.80G>A (p.Gly27Asp)
NM_174936.4(PCSK9):c.854T>C (p.Val285Ala)
NM_174936.4(PCSK9):c.871G>A (p.Gly291Ser)
NM_174936.4(PCSK9):c.881G>A (p.Ser294Asn)
NM_174936.4(PCSK9):c.883C>T (p.Arg295Cys)
NM_174936.4(PCSK9):c.898G>A (p.Ala300Thr)
NM_174936.4(PCSK9):c.907C>T (p.Arg303Cys)
NM_174936.4(PCSK9):c.989C>T (p.Ala330Val) rs868240958
NM_178172.6(GPIHBP1):c.106G>C (p.Asp36His)
NM_178172.6(GPIHBP1):c.13G>T (p.Gly5Trp)
NM_178172.6(GPIHBP1):c.151A>T (p.Thr51Ser)
NM_178172.6(GPIHBP1):c.163C>G (p.Pro55Ala)
NM_178172.6(GPIHBP1):c.188T>C (p.Leu63Pro)
NM_178172.6(GPIHBP1):c.211C>G (p.Leu71Val)
NM_178172.6(GPIHBP1):c.254A>G (p.His85Arg)
NM_178172.6(GPIHBP1):c.334G>A (p.Asp112Asn)
NM_178172.6(GPIHBP1):c.429C>A (p.Ser143Arg)
NM_178172.6(GPIHBP1):c.43G>A (p.Gly15Arg)
NM_178172.6(GPIHBP1):c.46C>T (p.Arg16Trp)
NM_178172.6(GPIHBP1):c.476G>A (p.Gly159Asp)
NM_178172.6(GPIHBP1):c.497C>A (p.Ala166Glu)
NM_178172.6(GPIHBP1):c.523G>A (p.Gly175Ser)
NM_178172.6(GPIHBP1):c.551C>T (p.Pro184Leu)
NM_178172.6(GPIHBP1):c.91G>A (p.Glu31Lys)
NM_178172.6(GPIHBP1):c.92A>T (p.Glu31Val)
NM_181486.4(TBX5):c.1019A>C (p.Lys340Thr)
NM_181486.4(TBX5):c.101C>T (p.Ala34Val) rs761952835
NM_181486.4(TBX5):c.1021C>G (p.Pro341Ala)
NM_181486.4(TBX5):c.1029G>A (p.Met343Ile)
NM_181486.4(TBX5):c.1033A>G (p.Thr345Ala)
NM_181486.4(TBX5):c.1045G>A (p.Glu349Lys)
NM_181486.4(TBX5):c.104C>A (p.Pro35His)
NM_181486.4(TBX5):c.1063C>T (p.Arg355Cys)
NM_181486.4(TBX5):c.1073A>G (p.Tyr358Cys)
NM_181486.4(TBX5):c.1076C>T (p.Pro359Leu)
NM_181486.4(TBX5):c.1129G>A (p.Ala377Thr)
NM_181486.4(TBX5):c.1130C>T (p.Ala377Val)
NM_181486.4(TBX5):c.1135A>C (p.Met379Leu)
NM_181486.4(TBX5):c.1153C>T (p.Pro385Ser)
NM_181486.4(TBX5):c.1168G>A (p.Val390Met)
NM_181486.4(TBX5):c.119C>G (p.Ser40Trp)
NM_181486.4(TBX5):c.1205C>T (p.Pro402Leu)
NM_181486.4(TBX5):c.1228T>C (p.Cys410Arg)
NM_181486.4(TBX5):c.1282G>A (p.Ala428Thr)
NM_181486.4(TBX5):c.1295C>T (p.Ser432Leu)
NM_181486.4(TBX5):c.1319C>T (p.Ala440Val)
NM_181486.4(TBX5):c.1321G>A (p.Gly441Ser)
NM_181486.4(TBX5):c.1332C>A (p.Asn444Lys)
NM_181486.4(TBX5):c.133G>A (p.Ala45Thr)
NM_181486.4(TBX5):c.1361T>C (p.Met454Thr)
NM_181486.4(TBX5):c.1362G>A (p.Met454Ile) rs971831243
NM_181486.4(TBX5):c.1376C>A (p.Thr459Asn)
NM_181486.4(TBX5):c.1388A>C (p.His463Pro)
NM_181486.4(TBX5):c.1407G>C (p.Gln469His)
NM_181486.4(TBX5):c.140C>G (p.Thr47Ser)
NM_181486.4(TBX5):c.1442C>T (p.Thr481Ile)
NM_181486.4(TBX5):c.1469C>T (p.Ser490Phe)
NM_181486.4(TBX5):c.1484G>A (p.Arg495Lys)
NM_181486.4(TBX5):c.1485del (p.Thr496fs)
NM_181486.4(TBX5):c.1519G>A (p.Gly507Arg)
NM_181486.4(TBX5):c.1520G>A (p.Gly507Glu)
NM_181486.4(TBX5):c.1523T>C (p.Val508Ala)
NM_181486.4(TBX5):c.1538A>G (p.Glu513Gly)
NM_181486.4(TBX5):c.1546G>A (p.Asp516Asn)
NM_181486.4(TBX5):c.157G>A (p.Gly53Arg)
NM_181486.4(TBX5):c.167T>A (p.Val56Glu)
NM_181486.4(TBX5):c.182G>A (p.Arg61Lys)
NM_181486.4(TBX5):c.207A>C (p.Glu69Asp)
NM_181486.4(TBX5):c.208G>A (p.Val70Met)
NM_181486.4(TBX5):c.260A>G (p.Tyr87Cys) rs886039131
NM_181486.4(TBX5):c.286C>T (p.Pro96Ser)
NM_181486.4(TBX5):c.289A>G (p.Lys97Glu)
NM_181486.4(TBX5):c.322C>G (p.Pro108Ala)
NM_181486.4(TBX5):c.328G>A (p.Asp110Asn)
NM_181486.4(TBX5):c.343A>G (p.Lys115Glu)
NM_181486.4(TBX5):c.349G>T (p.Ala117Ser)
NM_181486.4(TBX5):c.363-4C>A
NM_181486.4(TBX5):c.368T>C (p.Val123Ala) rs1555226329
NM_181486.4(TBX5):c.37A>T (p.Thr13Ser)
NM_181486.4(TBX5):c.383A>G (p.Glu128Gly)
NM_181486.4(TBX5):c.38C>A (p.Thr13Lys) rs763125466
NM_181486.4(TBX5):c.451C>G (p.Gln151Glu)
NM_181486.4(TBX5):c.455T>C (p.Leu152Pro)
NM_181486.4(TBX5):c.472C>T (p.Leu158Phe)
NM_181486.4(TBX5):c.4G>A (p.Ala2Thr)
NM_181486.4(TBX5):c.503T>C (p.Phe168Ser)
NM_181486.4(TBX5):c.510+3G>A
NM_181486.4(TBX5):c.510+5G>A rs1555226301
NM_181486.4(TBX5):c.604T>C (p.Cys202Arg)
NM_181486.4(TBX5):c.610C>A (p.His204Asn)
NM_181486.4(TBX5):c.613G>A (p.Val205Ile)
NM_181486.4(TBX5):c.622G>A (p.Glu208Lys)
NM_181486.4(TBX5):c.623A>T (p.Glu208Val) rs2136410771
NM_181486.4(TBX5):c.629C>A (p.Ala210Glu)
NM_181486.4(TBX5):c.635T>C (p.Ile212Thr)
NM_181486.4(TBX5):c.635T>G (p.Ile212Arg)
NM_181486.4(TBX5):c.691C>A (p.Pro231Thr)
NM_181486.4(TBX5):c.691C>T (p.Pro231Ser) rs2136397905
NM_181486.4(TBX5):c.727G>A (p.Glu243Lys)
NM_181486.4(TBX5):c.73G>T (p.Asp25Tyr)
NM_181486.4(TBX5):c.798A>T (p.Lys266Asn)
NM_181486.4(TBX5):c.800T>G (p.Val267Gly)
NM_181486.4(TBX5):c.811C>A (p.His271Asn)
NM_181486.4(TBX5):c.817C>T (p.Pro273Ser)
NM_181486.4(TBX5):c.829G>A (p.Glu277Lys)
NM_181486.4(TBX5):c.859T>A (p.Leu287Met)
NM_181486.4(TBX5):c.868C>G (p.Gln290Glu)
NM_181486.4(TBX5):c.874C>A (p.Gln292Lys)
NM_181486.4(TBX5):c.885T>A (p.Asn295Lys)
NM_181486.4(TBX5):c.88A>G (p.Ser30Gly)
NM_181486.4(TBX5):c.901T>A (p.Ser301Thr)
NM_181486.4(TBX5):c.917C>T (p.Pro306Leu)
NM_181486.4(TBX5):c.92C>T (p.Ala31Val)
NM_181486.4(TBX5):c.940C>T (p.Pro314Ser)
NM_181486.4(TBX5):c.946G>C (p.Glu316Gln)
NM_181486.4(TBX5):c.958A>T (p.Ile320Phe)
NM_198056.2(SCN5A):c.86_87invCA (p.Ala29Val)
NM_201590.3(CACNB2):c.13C>T (p.Arg5Cys)
NM_201590.3(CACNB2):c.25C>A (p.Pro9Thr)
NM_201590.3(CACNB2):c.25C>G (p.Pro9Ala)
NM_201590.3(CACNB2):c.43A>G (p.Ile15Val)
NM_201590.3(CACNB2):c.46C>A (p.Pro16Thr)
NM_201590.3(CACNB2):c.51G>C (p.Gly17=)
NM_201590.3(CACNB2):c.8A>G (p.Asp3Gly)
NM_201596.3(CACNB2):c.1009A>G (p.Ser337Gly) rs886038827
NM_201596.3(CACNB2):c.1019C>T (p.Ala340Val)
NM_201596.3(CACNB2):c.1039A>G (p.Thr347Ala)
NM_201596.3(CACNB2):c.1074C>G (p.Ile358Met)
NM_201596.3(CACNB2):c.1075G>A (p.Glu359Lys)
NM_201596.3(CACNB2):c.1081A>G (p.Ile361Val)
NM_201596.3(CACNB2):c.1085T>C (p.Phe362Ser)
NM_201596.3(CACNB2):c.1093G>A (p.Ala365Thr)
NM_201596.3(CACNB2):c.1103T>C (p.Leu368Ser)
NM_201596.3(CACNB2):c.1105C>A (p.Gln369Lys)
NM_201596.3(CACNB2):c.1114G>A (p.Val372Ile)
NM_201596.3(CACNB2):c.1117C>T (p.Leu373Phe)
NM_201596.3(CACNB2):c.1141C>T (p.Pro381Ser)
NM_201596.3(CACNB2):c.1144G>A (p.Ala382Thr)
NM_201596.3(CACNB2):c.1148A>G (p.Gln383Arg)
NM_201596.3(CACNB2):c.1154G>A (p.Ser385Asn) rs770400596
NM_201596.3(CACNB2):c.1154G>C (p.Ser385Thr)
NM_201596.3(CACNB2):c.1178T>G (p.Ile393Arg) rs139749312
NM_201596.3(CACNB2):c.1293G>C (p.Gln431His) rs148414498
NM_201596.3(CACNB2):c.1303-5T>C
NM_201596.3(CACNB2):c.1311C>A (p.Phe437Leu) rs560020203
NM_201596.3(CACNB2):c.1312G>A (p.Asp438Asn)
NM_201596.3(CACNB2):c.1349G>C (p.Cys450Ser)
NM_201596.3(CACNB2):c.1391C>T (p.Thr464Ile)
NM_201596.3(CACNB2):c.1399C>G (p.Pro467Ala)
NM_201596.3(CACNB2):c.1405A>G (p.Ser469Gly)
NM_201596.3(CACNB2):c.1421C>A (p.Pro474His)
NM_201596.3(CACNB2):c.1432C>G (p.Arg478Gly)
NM_201596.3(CACNB2):c.1441G>A (p.Ala481Thr)
NM_201596.3(CACNB2):c.1441G>C (p.Ala481Pro)
NM_201596.3(CACNB2):c.1445C>T (p.Thr482Ile)
NM_201596.3(CACNB2):c.1463G>A (p.Ser488Asn)
NM_201596.3(CACNB2):c.1471C>G (p.Leu491Val)
NM_201596.3(CACNB2):c.1472T>A (p.Leu491Gln)
NM_201596.3(CACNB2):c.1489G>T (p.Gly497Cys)
NM_201596.3(CACNB2):c.1490G>T (p.Gly497Val)
NM_201596.3(CACNB2):c.1517_1518delinsAT (p.Arg506His) rs2133333288
NM_201596.3(CACNB2):c.1519T>C (p.Ser507Pro)
NM_201596.3(CACNB2):c.1525C>A (p.Pro509Thr)
NM_201596.3(CACNB2):c.1526C>T (p.Pro509Leu)
NM_201596.3(CACNB2):c.1531C>T (p.Arg511Cys) rs764111314
NM_201596.3(CACNB2):c.1534del (p.Ser512fs) rs767341738
NM_201596.3(CACNB2):c.1559C>T (p.Pro520Leu)
NM_201596.3(CACNB2):c.1573G>A (p.Val525Ile)
NM_201596.3(CACNB2):c.1573G>C (p.Val525Leu)
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu) rs121917812
NM_201596.3(CACNB2):c.1619A>G (p.Asn540Ser)
NM_201596.3(CACNB2):c.1624C>G (p.Arg542Gly)
NM_201596.3(CACNB2):c.1630G>A (p.Gly544Arg)
NM_201596.3(CACNB2):c.1645C>T (p.Leu549Phe)
NM_201596.3(CACNB2):c.1659_1662dup (p.Phe555fs)
NM_201596.3(CACNB2):c.1661C>T (p.Thr554Ile)
NM_201596.3(CACNB2):c.1688G>C (p.Arg563Pro) rs766377211
NM_201596.3(CACNB2):c.1690G>C (p.Asp564His)
NM_201596.3(CACNB2):c.1702G>C (p.Val568Leu) rs142639223
NM_201596.3(CACNB2):c.1702G>T (p.Val568Leu) rs142639223
NM_201596.3(CACNB2):c.1718A>G (p.Asp573Gly)
NM_201596.3(CACNB2):c.1745A>G (p.Tyr582Cys)
NM_201596.3(CACNB2):c.1748C>T (p.Ala583Val)
NM_201596.3(CACNB2):c.1757G>A (p.Arg586His)
NM_201596.3(CACNB2):c.1817delinsTGTGT (p.Arg606fs)
NM_201596.3(CACNB2):c.1823G>T (p.Arg608Leu)
NM_201596.3(CACNB2):c.1833C>G (p.Asp611Glu)
NM_201596.3(CACNB2):c.1833_1838dup (p.Asp613_Arg614insValAsp)
NM_201596.3(CACNB2):c.1838A>C (p.Asp613Ala)
NM_201596.3(CACNB2):c.1840C>G (p.Arg614Gly)
NM_201596.3(CACNB2):c.1841G>C (p.Arg614Pro)
NM_201596.3(CACNB2):c.1844A>C (p.Glu615Ala) rs1564678668
NM_201596.3(CACNB2):c.1855A>G (p.Asn619Asp)
NM_201596.3(CACNB2):c.1874G>C (p.Arg625Pro)
NM_201596.3(CACNB2):c.1879C>A (p.Arg627Ser)
NM_201596.3(CACNB2):c.1880G>A (p.Arg627His)
NM_201596.3(CACNB2):c.1906G>A (p.Glu636Lys)
NM_201596.3(CACNB2):c.1910dup (p.Asp638fs) rs750015594
NM_201596.3(CACNB2):c.1920_1924dup (p.Ile642delinsLysTer)
NM_201596.3(CACNB2):c.1921G>A (p.Val641Met) rs786205786
NM_201596.3(CACNB2):c.1925T>C (p.Ile642Thr) rs1554843232
NM_201596.3(CACNB2):c.1925T>G (p.Ile642Arg)
NM_201596.3(CACNB2):c.1942G>A (p.Glu648Lys)
NM_201596.3(CACNB2):c.1960_1970dup (p.Tyr657Ter)
NM_201596.3(CACNB2):c.1970A>G (p.Tyr657Cys)
NM_201596.3(CACNB2):c.214-3C>T
NM_201596.3(CACNB2):c.214-60999G>A
NM_201596.3(CACNB2):c.239G>A (p.Arg80His)
NM_201596.3(CACNB2):c.253G>A (p.Asp85Asn)
NM_201596.3(CACNB2):c.253G>C (p.Asp85His)
NM_201596.3(CACNB2):c.281C>G (p.Ala94Gly)
NM_201596.3(CACNB2):c.289A>G (p.Arg97Gly)
NM_201596.3(CACNB2):c.290G>C (p.Arg97Thr) rs1564509094
NM_201596.3(CACNB2):c.299A>T (p.Glu100Val)
NM_201596.3(CACNB2):c.340C>T (p.Pro114Ser) rs768218683
NM_201596.3(CACNB2):c.343G>A (p.Val115Ile) rs747480172
NM_201596.3(CACNB2):c.383C>T (p.Ala128Val) rs376636577
NM_201596.3(CACNB2):c.386A>T (p.His129Leu)
NM_201596.3(CACNB2):c.394G>T (p.Asp132Tyr) rs1317419789
NM_201596.3(CACNB2):c.406C>A (p.Pro136Thr)
NM_201596.3(CACNB2):c.415G>T (p.Ala139Ser) rs886039055
NM_201596.3(CACNB2):c.418A>G (p.Ile140Val)
NM_201596.3(CACNB2):c.436G>T (p.Asp146Tyr)
NM_201596.3(CACNB2):c.447T>A (p.His149Gln)
NM_201596.3(CACNB2):c.479T>C (p.Ile160Thr)
NM_201596.3(CACNB2):c.517A>G (p.Ile173Val)
NM_201596.3(CACNB2):c.557A>C (p.His186Pro)
NM_201596.3(CACNB2):c.566G>T (p.Arg189Ile)
NM_201596.3(CACNB2):c.604G>A (p.Gly202Arg)
NM_201596.3(CACNB2):c.650A>G (p.Lys217Arg)
NM_201596.3(CACNB2):c.704A>C (p.Glu235Ala)
NM_201596.3(CACNB2):c.770A>C (p.His257Pro)
NM_201596.3(CACNB2):c.818C>T (p.Pro273Leu) rs375425461
NM_201596.3(CACNB2):c.827A>C (p.Asp276Ala) rs889646922
NM_201596.3(CACNB2):c.859G>C (p.Val287Leu) rs1217728234
NM_201596.3(CACNB2):c.883G>C (p.Glu295Gln)
NM_201596.3(CACNB2):c.899T>C (p.Met300Thr)
NM_201596.3(CACNB2):c.943C>T (p.Arg315Trp)
NM_201596.3(CACNB2):c.958A>G (p.Arg320Gly)
NM_201596.3(CACNB2):c.970G>T (p.Asp324Tyr)

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