ClinVar Miner

List of variants studied for cardiomyopathy by OMIM

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 889
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HGVS dbSNP gnomAD frequency
NM_001042475.3(CEP85L):c.1020+17269T>G rs77186188 0.04176
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn) rs121908338 0.00584
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895 0.00411
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met) rs140126678 0.00220
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) rs142951029 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu) rs63750197 0.00073
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys) rs28933693 0.00046
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_078470.6(COX15):c.452C>G (p.Ser151Ter) rs149718203 0.00030
NM_001042475.3(CEP85L):c.1020+17275G>C rs188578681 0.00029
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480 0.00025
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_003673.4(TCAP):c.458G>A (p.Arg153His) rs149585781 0.00021
NM_000157.4(GBA1):c.1342G>C (p.Asp448His) rs1064651 0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 0.00016
NM_006172.4(NPPA):c.449G>A (p.Arg150Gln) rs202102042 0.00016
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_020774.4(MIB1):c.2827G>T (p.Val943Phe) rs200035428 0.00013
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_078470.6(COX15):c.396-3C>G rs200910834 0.00011
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197 0.00011
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00011
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124 0.00010
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_014000.3(VCL):c.829C>A (p.Leu277Met) rs71579353 0.00010
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872 0.00009
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578 0.00009
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) rs121917809 0.00008
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp) rs387906874 0.00008
NM_005061.3(RPL3L):c.566C>T (p.Thr189Met) rs924125081 0.00008
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_000157.4(GBA1):c.115+1G>A rs104886460 0.00006
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys) rs80356771 0.00006
NM_000157.4(GBA1):c.1604G>A (p.Arg535His) rs75822236 0.00006
NM_000157.4(GBA1):c.84dup (p.Leu29fs) rs387906315 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_002018.4(FLII):c.3718C>T (p.Arg1240Cys) rs563225941 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His) rs141638421 0.00005
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) rs137852765 0.00005
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000371.4(TTR):c.262A>T (p.Ile88Leu) rs121918085 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_002471.4(MYH6):c.2384G>A (p.Arg795Gln) rs267606907 0.00004
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr) rs587777404 0.00004
NM_003140.3(SRY):c.53G>A (p.Ser18Asn) rs104894971 0.00004
NM_003239.5(TGFB3):c.-30G>A rs770828281 0.00004
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp) rs397514506 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_005138.3(SCO2):c.157C>T (p.Gln53Ter) rs74315510 0.00004
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn) rs45514002 0.00004
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter) rs199896820 0.00004
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter) rs749465164 0.00004
NM_078470.6(COX15):c.649C>T (p.Arg217Trp) rs28939711 0.00004
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg) rs119458971 0.00003
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg) rs121965021 0.00003
NM_000203.5(IDUA):c.1614del (p.His539fs) rs727503967 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn) rs147879266 0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) rs879255639 0.00003
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) rs775636212 0.00003
NM_005138.3(SCO2):c.511C>T (p.Arg171Trp) rs28937598 0.00003
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673 0.00003
NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln) rs200834568 0.00003
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu) rs397514744 0.00003
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr) rs121913640 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000258.3(MYL3):c.461G>A (p.Arg154His) rs104893749 0.00002
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) rs372615994 0.00002
NM_001206641.3(COA6):c.349G>T (p.Glu117Ter) rs146440690 0.00002
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu) rs104894654 0.00002
NM_001927.4(DES):c.1048C>T (p.Arg350Trp) rs62636492 0.00002
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys) rs121913012 0.00002
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn) rs104894678 0.00002
NM_002635.4(SLC25A3):c.158-303A>G rs745305932 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_005061.3(RPL3L):c.347G>A (p.Arg116His) rs376654625 0.00002
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) rs74315512 0.00002
NM_006150.5(PRICKLE3):c.157C>T (p.Arg53Trp) rs2065470015 0.00002
NM_020778.5(ALPK3):c.4130-1G>A rs762110595 0.00002
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu) rs118204017 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) rs119458969 0.00001
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser) rs121908311 0.00001
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu) rs80356769 0.00001
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp) rs1141814 0.00001
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln) rs79653797 0.00001
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile) rs381737 0.00001
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr) rs74500255 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000231.3(SGCG):c.87dup (p.Gly30fs) rs762777463 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) rs121913631 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu) rs121913633 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter) rs121909295 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000371.4(TTR):c.118G>A (p.Val40Ile) rs121918093 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000371.4(TTR):c.88T>C (p.Cys30Arg) rs121918083 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000432.4(MYL2):c.283C>G (p.Pro95Ala) rs121913658 0.00001
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln) rs119463992 0.00001
NM_001105206.3(LAMA4):c.2849C>T (p.Pro950Leu) rs387907365 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) rs267607002 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001267550.2(TTN):c.160G>A (p.Val54Met) rs139517732 0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) rs121964856 0.00001
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys) rs2036159242 0.00001
NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser) rs775975702 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr) rs121913009 0.00001
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter) rs753052874 0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692 0.00001
NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905 0.00001
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920 0.00001
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) rs397515423 0.00001
NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro) rs587777401 0.00001
NM_002633.3(PGM1):c.343A>G (p.Thr115Ala) rs121918371 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NM_002880.4(RAF1):c.1922C>T (p.Thr641Met) rs587777587 0.00001
NM_002880.4(RAF1):c.709G>A (p.Ala237Thr) rs587777588 0.00001
NM_003140.3(SRY):c.270C>G (p.Ile90Met) rs104894959 0.00001
NM_003239.5(TGFB3):c.*495C>T rs387906514 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) rs267607123 0.00001
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg) rs137852764 0.00001
NM_003673.4(TCAP):c.260G>A (p.Arg87Gln) rs121434298 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter) rs121912561 0.00001
NM_005061.3(RPL3L):c.1027C>T (p.Arg343Trp) rs1465045317 0.00001
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp) rs770344400 0.00001
NM_005061.3(RPL3L):c.922G>A (p.Asp308Asn) rs771732216 0.00001
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) rs121912676 0.00001
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680 0.00001
NM_005733.3(KIF20A):c.544C>T (p.Arg182Trp) rs771130761 0.00001
NM_006767.4(LZTR1):c.2220-17C>A rs1249726034 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_007078.3(LDB3):c.617C>T (p.Thr206Ile) rs121908337 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908 0.00001
NM_014000.3(VCL):c.2923C>T (p.Arg975Trp) rs121917776 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_020433.5(JPH2):c.421T>C (p.Tyr141His) rs387906897 0.00001
NM_021044.4(DHH):c.485T>C (p.Leu162Pro) rs111033589 0.00001
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser) rs397514743 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_032578.4(MYPN):c.3263G>A (p.Arg1088His) rs71584501 0.00001
NM_032656.4(DHX37):c.923G>A (p.Arg308Gln) rs1384892917 0.00001
NM_144573.4(NEXN):c.391C>G (p.Gln131Glu) rs387907079 0.00001
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter) rs121434313 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_181784.3(SPRED2):c.187C>T (p.Arg63Ter) rs780902942 0.00001
NM_207163.3(LMOD2):c.1537C>T (p.Arg513Ter) rs201276725 0.00001
FGFR3, FGFR3/IGH FUSION
NC_000010.11:g.119674392_119683124del
NC_000017.10:g.(69472000_?)_(?_69712000)del
NC_000017.11:g.(?_71475000)_(71611000_?)del
NC_000017.11:g.71412006_71988969delinsTACCTTTTATT
NC_000023.11:g.(33020201_33211281)_(33211556_?)del
NC_000023.11:g.(?_30304206_30309390_?)dup
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.1555A>G rs267606617
NC_012920.1:m.3460G>A rs199476118
NC_012920.1:m.7444G>A rs199474822
NG_008935.1:g.(21725_81488)_(328930_337985)del
NG_012232.1:g.702849_702850insinsY13186.2:g.2333_2491
NG_016165.1:g.(170_?)_(?_2014)del
NM_000018.3(ACADVL):c.[194C>T;739A>C]
NM_000018.4(ACADVL):c.1080_1182+2del rs2142981921
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) rs118204015
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_000023.4(SGCA):c.410A>G (p.Glu137Gly) rs397514451
NM_000023.4(SGCA):c.524T>C (p.Val175Ala) rs137852622
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.239-1G>A rs1603377590
NM_000116.5(TAFAZZIN):c.239-1G>C rs1603377590
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser) rs104894942
NM_000116.5(TAFAZZIN):c.284+110G>A rs1603377747
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs) rs2148211636
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg) rs132630277
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs) rs1603381671
NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs) rs2148212610
NM_000116.5(TAFAZZIN):c.647-1G>C rs587776741
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.139_140dup (p.Leu48fs) rs2148128153
NM_000117.3(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.3(EMD):c.266-3A>G rs2148128459
NM_000117.3(EMD):c.506_507del (p.Pro169fs) rs1422834817
NM_000117.3(EMD):c.547C>A (p.Pro183Thr) rs104894806
NM_000117.3(EMD):c.548C>A (p.Pro183His) rs104894805
NM_000117.3(EMD):c.615del (p.Ile206fs) rs2148128932
NM_000117.3:c.55_83del
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del) rs779140971
NM_000126.4(ETFA):c.963+1del rs746488455
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000152.5(GAA):c.1076-1G>A rs1555600050
NM_000152.5(GAA):c.2483_2646+1del rs1555603048
NM_000157.4(GBA1):c.1043C>T (p.Ala348Val) rs78396650
NM_000157.4(GBA1):c.1053G>T (p.Trp351Cys) rs121908304
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr) rs121908307
NM_000157.4(GBA1):c.1228C>G (p.Leu410Val) rs121908314
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs) rs80356768
NM_000157.4(GBA1):c.1319C>T (p.Pro440Leu) rs74598136
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro) rs421016
NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser) rs121908301
NM_000157.4(GBA1):c.160G>T (p.Val54Leu) rs121908302
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu) rs77829017
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn) rs121908312
NM_000157.4(GBA1):c.481C>T (p.Pro161Ser) rs121908299
NM_000157.4(GBA1):c.586A>C (p.Lys196Gln) rs121908297
NM_000157.4(GBA1):c.73del (p.Leu25fs) rs397518433
NM_000157.4(GBA1):c.751T>C (p.Tyr251His) rs121908300
NM_000157.4(GBA1):c.763T>G (p.Phe255Val) rs121908303
NM_000157.4(GBA1):c.983C>T (p.Pro328Leu) rs121908298
NM_000203.3(IDUA):c.[1225G>C;1962A>T]
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg) rs121965033
NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro) rs121965024
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) rs121965022
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter) rs121965023
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.800_801del (p.Cys267fs) rs780348174
NM_000231.3(SGCG):c.801_802del (p.Pro268fs) rs2137534216
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000232.5(SGCB):c.243+3_243+6del rs1553940660
NM_000232.5(SGCB):c.272G>C (p.Arg91Pro) rs104893869
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu) rs104893869
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg) rs104893870
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer) rs751427729
NM_000232.5(SGCB):c.466_467del (p.Glu156fs) rs1578125670
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter) rs104893868
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1469G>T (p.Gly490Val) rs397514752
NM_000256.3(MYBPC3):c.175A>G (p.Thr59Ala) rs121909375
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2309-26A>G rs886041030
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) rs397515973
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.2843A>C (p.Asn948Thr) rs121909376
NM_000256.3(MYBPC3):c.3330+5G>A rs373746463
NM_000256.3(MYBPC3):c.3490+1G>A rs397516020
NM_000256.3(MYBPC3):c.3659_3662delinsTTCAAGAATGGC (p.Asp1220fs) rs886041031
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) rs397514751
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.906-1G>C rs587776700
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000257.3(MYH7):c.[1816G>A;2183C>T]
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) rs121913624
NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser) rs121913625
NM_000257.4(MYH7):c.1538T>G (p.Phe513Cys) rs121913636
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) rs121913642
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu) rs121913646
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2292C>G (p.Phe764Leu) rs121913643
NM_000257.4(MYH7):c.2333A>G (p.Asp778Gly) rs121913634
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys) rs121913639
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) rs121913629
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr) rs267606909
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) rs121913654
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) rs28933098
NM_000257.4(MYH7):c.5702A>T (p.His1901Leu) rs121913649
NM_000257.4(MYH7):c.5754C>R (p.Asn1918Lys) rs138110910
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp) rs367543053
NM_000257.4(MYH7):c.667G>A (p.Ala223Thr) rs121913645
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp) rs397515482
NM_000258.3(MYL3):c.445A>G (p.Met149Val) rs104893748
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000337.6(SGCD):c.391G>C (p.Ala131Pro) rs267607045
NM_000337.6(SGCD):c.657del (p.Thr220fs) rs1369919728
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000337.6(SGCD):c.784G>A (p.Glu262Lys) rs121909297
NM_000337.6(SGCD):c.89G>A (p.Trp30Ter) rs121909296
NM_000363.5(TNNI3):c.106A>C (p.Lys36Gln) rs267607130
NM_000363.5(TNNI3):c.431T>A (p.Leu144Gln) rs121917760
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly) rs104894724
NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr) rs121917761
NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu) rs104894730
NM_000363.5(TNNI3):c.547_549del (p.Lys183del) rs2147283135
NM_000363.5(TNNI3):c.555C>G (p.Asn185Lys) rs267607129
NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly) rs104894728
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) rs397516359
NM_000363.5(TNNI3):c.607G>A (p.Gly203Ser) rs267607127
NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln) rs104894725
NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys) rs267607128
NM_000371.4(TTR):c.133G>A (p.Ala45Thr) rs104894664
NM_000371.4(TTR):c.148G>C (p.Val50Leu) rs28933979
NM_000371.4(TTR):c.149T>C (p.Val50Ala) rs79977247
NM_000371.4(TTR):c.157T>A (p.Phe53Ile) rs121918068
NM_000371.4(TTR):c.157T>C (p.Phe53Leu) rs121918068
NM_000371.4(TTR):c.166G>C (p.Ala56Pro) rs121918077
NM_000371.4(TTR):c.185A>G (p.Glu62Gly) rs11541796
NM_000371.4(TTR):c.191T>C (p.Phe64Ser) rs104894665
NM_000371.4(TTR):c.199G>A (p.Gly67Arg) rs387906523
NM_000371.4(TTR):c.199G>C (p.Gly67Arg) rs387906523
NM_000371.4(TTR):c.200G>C (p.Gly67Ala) rs121918090
NM_000371.4(TTR):c.205A>G (p.Thr69Ala) rs121918081
NM_000371.4(TTR):c.209G>T (p.Ser70Ile) rs121918080
NM_000371.4(TTR):c.210T>G (p.Ser70Arg) rs121918076
NM_000371.4(TTR):c.224T>C (p.Leu75Pro) rs121918079
NM_000371.4(TTR):c.233T>A (p.Leu78His) rs121918069
NM_000371.4(TTR):c.233T>G (p.Leu78Arg) rs121918069
NM_000371.4(TTR):c.241G>A (p.Glu81Lys) rs121918086
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.270A>C (p.Lys90Asn) rs267607160
NM_000371.4(TTR):c.272T>C (p.Val91Ala) rs121918084
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.311T>G (p.Ile104Ser) rs121918072
NM_000371.4(TTR):c.325G>C (p.Glu109Gln) rs121918082
NM_000371.4(TTR):c.350C>G (p.Ala117Gly) rs121918087
NM_000371.4(TTR):c.379A>G (p.Ile127Val) rs121918089
NM_000371.4(TTR):c.391C>A (p.Leu131Met) rs121918073
NM_000371.4(TTR):c.401A>G (p.Tyr134Cys) rs121918075
NM_000371.4(TTR):c.421GTC[1] (p.Val142del) rs121918096
NM_000371.4(TTR):c.95T>C (p.Leu32Pro) rs121918094
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
NM_001005741.2(GBA1):c.[535G>C;c.1093G>A]
NM_001008215.3(COA5):c.157G>C (p.Ala53Pro) rs387907099
NM_001015048.3(BAG5):c.1168C>T (p.Arg390Ter) rs182208325
NM_001015048.3(BAG5):c.18dup (p.His7fs) rs2076070300
NM_001015048.3(BAG5):c.589C>T (p.Arg197Ter) rs906014476
NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys) rs104894501
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys) rs104894505
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly) rs104894502
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.742A>G (p.Lys248Glu) rs199476319
NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys) rs121918599
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) rs121918605
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) rs121918602
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) rs121918600
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.169-198_273+820del
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) rs121918597
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser) rs121918603
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile) rs121918601
NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser) rs121918598
NM_001042475.3(CEP85L):c.1020+17310T>C rs920627366
NM_001079802.2(FKTN):c.1073A>C (p.Gln358Pro) rs119463993
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1363del (p.Asp455fs) rs587777814
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_001081560.3(DMPK):c.*224CTG[51_?]
NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile) rs1576387876
NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg) rs1576387885
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val) rs1576359216
NM_001103.4(ACTN2):c.1883A>G (p.Glu628Gly) rs786204951
NM_001103.4(ACTN2):c.2276G>C (p.Arg759Thr) rs786204950
NM_001103.4(ACTN2):c.332G>T (p.Gly111Val) rs786204949
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr) rs727502886
NM_001103.4(ACTN2):c.683T>C (p.Met228Thr) rs786205144
NM_001122630.2(CDKN1C):c.106C>T (p.Gln36Ter) rs137852766
NM_001122630.2(CDKN1C):c.277_278delinsG (p.Leu93fs) rs387906399
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter) rs104894200
NM_001122630.2(CDKN1C):c.793delinsAG (p.Phe265fs) rs2133780364
NM_001122630.2(CDKN1C):c.812C>A (p.Ser271Ter) rs267606716
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter) rs267606716
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) rs267607005
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser) rs122458140
NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle) rs1603271580
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg) rs122459149
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001159699.2(FHL1):c.736+1G>A rs786200914
NM_001159699.2(FHL1):c.865dup (p.Cys289fs) rs1603273697
NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu) rs122459148
NM_001159702.3(FHL1):c.838G>A (p.Val280Met) rs267606811
NM_001161403.3(LIMS2):c.968T>C (p.Leu323Pro) rs869025562
NM_001161404.1(LIMS2):c.[261C>G;275C>T]
NM_001206641.3(COA6):c.267G>C (p.Trp89Cys) rs1558123786
NM_001206641.3(COA6):c.286T>C (p.Trp96Arg) rs875989827
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs) rs199469665
NM_001267550.2(TTN):c.13108C>T (p.Gln4370Ter) rs267607158
NM_001267550.2(TTN):c.2219G>T (p.Arg740Leu) rs28933405
NM_001267550.2(TTN):c.2228C>T (p.Ala743Val) rs267607157
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) rs267607155
NM_001267550.2(TTN):c.9163+1G>C rs1060500549
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001276345.2(TNNT2):c.316G>A (p.Glu106Lys) rs869312881
NM_001276345.2(TNNT2):c.316_318del (p.Glu106del) rs727504277
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) rs121964858
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) rs74315380
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001276345.2(TNNT2):c.644G>T (p.Arg215Leu) rs121964860
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del) rs45578238
NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn) rs121964861
NM_001276345.2(TNNT2):c.851+1G>A rs111377893
NM_001281740.3(FHOD3):c.1580_1582del (p.Ser527del) rs1205890585
NM_001281740.3:c.1836-1527_2022-2042del
NM_001368067.1(LDB3):c.383A>T (p.Lys128Met) rs121908339
NM_001393392.1(AKR1C2):c.235A>G (p.Ile79Val) rs387906750
NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln) rs797044460
NM_001393392.1(AKR1C2):c.666T>G (p.His222Gln) rs13222
NM_001393392.1(AKR1C2):c.899A>C (p.Asn300Thr) rs387906751
NM_001458.5(FLNC):c.368T>C (p.Val123Ala) rs1562991002
NM_001458.5(FLNC):c.4127+1del
NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr) rs1562999443
NM_001458.5(FLNC):c.4927+1del
NM_001458.5(FLNC):c.5669-1del rs1563001548
NM_001458.5(FLNC):c.6478A>T (p.Ile2160Phe) rs879255640
NM_001458.5(FLNC):c.6565G>T (p.Glu2189Ter)
NM_001458.5(FLNC):c.6943C>A (p.His2315Asn) rs1563003848
NM_001458.5(FLNC):c.7251+1G>A rs1554401581
NM_001458.5(FLNC):c.8107del (p.Asp2703fs) rs1563006160
NM_001792.5(CDH2):c.1219G>A (p.Asp407Asn) rs568089577
NM_001792.5(CDH2):c.686A>C (p.Gln229Pro) rs965753331
NM_001818.5(AKR1C4):c.85-106G>T rs398122815
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1024A>G (p.Asn342Asp) rs267607482
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del) rs58409037
NM_001927.4(DES):c.1078G>C (p.Ala360Pro) rs121913000
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1154T>C (p.Leu385Pro) rs57955682
NM_001927.4(DES):c.1166A>C (p.Gln389Pro) rs121913004
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) rs121913001
NM_001927.4(DES):c.1216C>T (p.Arg406Trp) rs121913003
NM_001927.4(DES):c.1255C>T (p.Pro419Ser) rs62635763
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) rs121913005
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) rs60538473
NM_001927.4(DES):c.640-1G>A rs267607484
NM_001927.4(DES):c.720_722del (p.Lys241del) rs2125167652
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.797A>G (p.Asn266Ser) rs121913011
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) rs104894677
NM_001985.3(ETFB):c.597+1G>C rs2123572141
NM_002018.4(FLII):c.1360C>T (p.Gln454Ter)
NM_002018.4(FLII):c.2020C>G (p.Leu674Val)
NM_002018.4(FLII):c.3502C>T (p.Arg1168Trp)
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup) rs113994176
NM_002230.4(JUP):c.1615C>T (p.Gln539Ter) rs797046139
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) rs113994177
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.71C>A (p.Ser24Ter) rs782460555
NM_002471.4(MYH6):c.2489C>T (p.Pro830Leu) rs267606906
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr) rs587777402
NM_002633.3(PGM1):c.1145-1G>C rs587776801
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs) rs763428801
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs) rs1647935062
NM_002633.3(PGM1):c.184G>C (p.Asp62His) rs587777403
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg) rs398122912
NM_002633.3(PGM1):c.661del (p.Arg221fs) rs587777405
NM_002633.3(PGM1):c.87_88del (p.Phe29fs) rs1570463842
NM_002635.4(SLC25A3):c.596T>G (p.Leu199Trp) rs2097595072
NM_002635.4(SLC25A3):c.883_895delinsCAGATAC (p.Gly295_Ser299delinsGlnIlePro) rs2097597579
NM_002667.5(PLN):c.25C>T (p.Arg9Cys) rs111033559
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg) rs886037952
NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro) rs1114167429
NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala) rs886037954
NM_002709.3(PPP1CB):c.548A>T (p.Glu183Val) rs886037954
NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys) rs886037955
NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn) rs2069154121
NM_002745.5(MAPK1):c.521C>T (p.Ala174Val) rs2069052012
NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn) rs2068716940
NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly) rs2068716907
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln) rs397516792
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.179_181del (p.Gly60del) rs80338836
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser) rs121918453
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg) rs80338799
NM_002880.4(RAF1):c.1808T>C (p.Leu603Pro) rs587777586
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_003140.3(SRY):c.12T>A (p.Tyr4Ter) rs104894975
NM_003140.3(SRY):c.178G>C (p.Val60Leu) rs104894957
NM_003140.3(SRY):c.192G>A (p.Met64Ile) rs104894969
NM_003140.3(SRY):c.203T>C (p.Ile68Thr) rs104894968
NM_003140.3(SRY):c.209G>A (p.Trp70Ter) rs104894965
NM_003140.3(SRY):c.274A>T (p.Lys92Ter) rs104894970
NM_003140.3(SRY):c.277C>T (p.Gln93Ter) rs104894958
NM_003140.3(SRY):c.283G>C (p.Gly95Arg) rs104894974
NM_003140.3(SRY):c.284G>A (p.Gly95Glu) rs104894972
NM_003140.3(SRY):c.317A>T (p.Lys106Ile) rs104894964
NM_003140.3(SRY):c.320G>A (p.Trp107Ter) rs104894967
NM_003140.3(SRY):c.324del (p.Phe109fs) rs606231179
NM_003140.3(SRY):c.326T>C (p.Phe109Ser) rs104894956
NM_003140.3(SRY):c.337G>A (p.Ala113Thr) rs104894966
NM_003140.3(SRY):c.364_367del (p.Glu122fs) rs606231178
NM_003140.3(SRY):c.380A>T (p.Tyr127Phe) rs104894973
NM_003140.3(SRY):c.397C>T (p.Arg133Trp) rs104894976
NM_003140.3(SRY):c.4C>T (p.Gln2Ter) rs104894977
NM_003280.3(TNNC1):c.100G>C (p.Gly34Arg)
NM_003280.3(TNNC1):c.12C>G (p.Ile4Met)
NM_003280.3(TNNC1):c.251G>A (p.Cys84Tyr) rs267607126
NM_003280.3(TNNC1):c.309G>A (p.Met103Ile) rs2153229926
NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp) rs104893823
NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser) rs397514616
NM_003319.4(TTN):c.43495_43496dup (p.Thr14500fs) rs2154172276
NM_003476.5(CSRP3):c.160_164delinsAGGGG (p.Ser54_Glu55delinsArgGly) rs281865416
NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly) rs104894204
NM_003673.4(TCAP):c.410C>T (p.Thr137Ile) rs773317399
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004006.3(DMD):c.835A>G (p.Thr279Ala) rs128627255
NM_004100.5(EYA4):c.724_805-957del
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu) rs137852768
NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro) rs397514507
NM_004281.4(BAG3):c.1430G>A (p.Arg477His) rs387906876
NM_004281.4(BAG3):c.652del (p.Arg218fs) rs1589630173
NM_004317.4(GET3):c.488T>C (p.Val163Ala)
NM_004317.4(GET3):c.[867C>G;913C>T]
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys) rs180177038
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly) rs180177039
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys) rs606231228
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg) rs180177041
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg) rs387906660
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) rs121912999
NM_004415.4(DSP):c.897C>G (p.Ser299Arg) rs121912992
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr) rs121964953
NM_004453.4(ETFDH):c.36del (p.Tyr13fs) rs2150304327
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) rs121964955
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu) rs121964955
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu) rs121918654
NM_004959.5(NR5A1):c.1058_1065del (p.Glu353fs)
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln) rs104894120
NM_004959.5(NR5A1):c.18del (p.Asp6fs) rs606231205
NM_004959.5(NR5A1):c.234G>A (p.Met78Ile) rs104894125
NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser) rs104894126
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp) rs886039769
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) rs104894119
NM_004959.5(NR5A1):c.390del (p.Pro131fs) rs606231207
NM_004959.5(NR5A1):c.3G>A (p.Met1Ile) rs121918656
NM_004959.5(NR5A1):c.43G>A (p.Val15Met) rs104894124
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter) rs104894123
NM_004959.5(NR5A1):c.666del (p.Asn222fs) rs606231206
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn) rs121918655
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile) rs104894364
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg) rs104894359
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004999.4(MYO6):c.1325G>A (p.Cys442Tyr) rs121912557
NM_004999.4(MYO6):c.2417-1758T>G rs1562283089
NM_005061.3(RPL3L):c.481C>T (p.Arg161Trp) rs143544112
NM_005061.3(RPL3L):c.923A>T (p.Asp308Val) rs2150861462
NM_005138.3(SCO2):c.107G>A (p.Trp36Ter) rs121908508
NM_005138.3(SCO2):c.179_188dup (p.Ile63fs) rs1467767014
NM_005138.3(SCO2):c.398G>A (p.Cys133Tyr) rs28937868
NM_005138.3(SCO2):c.674C>T (p.Ser225Phe) rs80358232
NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly) rs121912674
NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala) rs267606628
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser) rs121912675
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) rs267606629
NM_005189.3(CBX2):c.1328G>C (p.Arg443Pro) rs121908256
NM_005189.3(CBX2):c.293C>T (p.Pro98Leu) rs121908255
NM_005343.4(HRAS):c.108_110dup (p.Glu37dup) rs398122809
NM_005343.4(HRAS):c.110_111+1dup rs398122808
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys) rs121917756
NM_005343.4(HRAS):c.187_207dup (p.Glu63_Asp69dup) rs587777239
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg) rs104894227
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.3134C>G (p.Pro1045Arg) rs1668859370
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005733.3(KIF20A):c.1909del (p.Tyr637fs) rs2151233812
NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu) rs104894375
NM_005921.2(MAP3K1):c.1760T>A (p.Leu587His) rs1131692186
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg) rs143853590
NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln) rs387906788
NM_005921.2(MAP3K1):c.566T>C (p.Leu189Pro) rs387906788
NM_005921.2(MAP3K1):c.566T>G (p.Leu189Arg) rs387906788
NM_005921.2(MAP3K1):c.634-8T>A rs1131692053
NM_006366.3(CAP2):c.1288del (p.Cys430fs)
NM_006366.3(CAP2):c.636+1G>A
NM_006366.3(CAP2):c.948T>G (p.Tyr316Ter)
NM_006587.4(CORIN):c.684dup (p.Met229fs) rs756399499
NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]
NM_006767.4(LZTR1):c.2264G>A (p.Arg755Gln) rs762834512
NM_006767.4(LZTR1):c.361C>G (p.His121Asp) rs1569154492
NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn) rs797045166
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_007078.3(LDB3):c.1035C>G (p.Ile345Met) rs121908336
NM_007146.3(VEZF1):c.490A>T (p.Lys164Ter)
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile) rs730881020
NM_007373.4(SHOC2):c.807_808delinsTT (p.Gln269_His270delinsHisTyr) rs1848064627
NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg) rs606231252
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_013266.4(CTNNA3):c.2293TTG[1] (p.Leu766del) rs587777135
NM_013266.4(CTNNA3):c.281T>A (p.Val94Asp) rs587777134
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014908.4(DOLK):c.1222C>G (p.His408Asp) rs387907030
NM_014908.4(DOLK):c.1322A>C (p.Tyr441Ser) rs137853110
NM_014908.4(DOLK):c.295T>A (p.Cys99Ser) rs137853109
NM_014908.4(DOLK):c.2T>C (p.Met1Thr) rs587777137
NM_014908.4(DOLK):c.3G>A (p.Met1Ile) rs1564546510
NM_014908.4(DOLK):c.912G>T (p.Trp304Cys) rs1564545929
NM_016203.4(PRKAG2):c.1050_1051insTTA (p.Arg350_Glu351insLeu) rs587776643
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg) rs121908988
NM_016203.4(PRKAG2):c.1151G>C (p.Arg384Thr) rs730882148
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn) rs28938173
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.4(PRKAG2):c.1463A>T (p.Asn488Ile) rs121908989
NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln) rs267606978
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg) rs267606977
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln) rs121908991
NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro) rs267606979
NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro) rs199476398
NM_017644.3(KLHL24):c.1048G>T (p.Glu350Ter)
NM_017644.3(KLHL24):c.917G>A (p.Arg306His)
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.4537G>A (p.Ala1513Thr) rs121909304
NM_020433.5(JPH2):c.1920dup (p.Glu641Ter) rs2145838034
NM_020433.5(JPH2):c.301A>C (p.Ser101Arg) rs1600482909
NM_020433.5(JPH2):c.494C>T (p.Ser165Phe) rs387906898
NM_020778.5(ALPK3):c.3186G>A (p.Trp1062Ter) rs1555435531
NM_020778.5(ALPK3):c.4688G>A (p.Trp1563Ter) rs1555436118
NM_021044.4(DHH):c.1086del (p.Leu363fs) rs1592184934
NM_021044.4(DHH):c.2T>C (p.Met1Thr) rs104894346
NM_021044.4(DHH):c.304-572_492dup
NM_021044.4(DHH):c.371G>A (p.Arg124Gln) rs1565573892
NM_021044.4(DHH):c.519G>T (p.Trp173Cys) rs1939296210
NM_021044.4(DHH):c.554C>A (p.Ser185Ter) rs1939295073
NM_021167.5(GATAD1):c.304T>C (p.Ser102Pro) rs387907188
NM_022114.4(PRDM16):c.1573dup (p.Arg525fs) rs886041395
NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter) rs397514742
NM_022114.4(PRDM16):c.2660T>C (p.Leu887Pro) rs202115331
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.3(TMEM43):c.253G>A (p.Glu85Lys) rs397514044
NM_024422.6(DSC2):c.1430del (p.Thr477fs) rs397514041
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024664.4(PPCS):c.320_334del (p.Pro107_Ala111del) rs753011525
NM_024664.4(PPCS):c.538G>C (p.Ala180Pro) rs1557776329
NM_024664.4(PPCS):c.698A>T (p.Glu233Val) rs1557778277
NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys) rs121434497
NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln) rs267607230
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp) rs387906800
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_032578.4(MYPN):c.1585C>T (p.Gln529Ter) rs199476408
NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu) rs864621995
NM_032656.4(DHX37):c.1784C>T (p.Ser595Phe) rs1954346640
NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp) rs1954336272
NM_032656.4(DHX37):c.2021G>A (p.Arg674Gln) rs1954336215
NM_032656.4(DHX37):c.911C>T (p.Thr304Met) rs1954619788
NM_033337.3(CAV3):c.191C>G (p.Thr64Ser) rs121909280
NM_033360.4(KRAS):c.*22C>G rs104894362
NM_033360.4(KRAS):c.*9T>G rs104894367
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn) rs104894361
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser) rs104894359
NM_033360.4(KRAS):c.211T>C (p.Tyr71His) rs387907205
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu) rs387907206
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro) rs397514662
NM_144573.4(NEXN):c.1831C>A (p.Pro611Thr) rs137853198
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs) rs1566876941
NM_152594.3(SPRED1):c.131T>A (p.Val44Asp) rs121434318
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.423+1G>A rs1566868058
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter) rs121434316
NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter) rs121434314
NM_152594.3(SPRED1):c.784A>T (p.Arg262Ter) rs121434317
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter) rs56699480
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) rs57520892
NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro) rs60934003
NM_170707.4(LMNA):c.1608+5G>C rs267607539
NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly) rs56984562
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) rs61046466
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly) rs28928900
NM_170707.4(LMNA):c.254T>G (p.Leu85Arg) rs28933090
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile) rs57077886
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) rs60864230
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) rs28933091
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) rs28933092
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del) rs267607540
NM_170707.4(LMNA):c.664C>T (p.His222Tyr) rs28928901
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln) rs199474724
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.4(LMNA):c.960del (p.Arg321fs) rs56771886
NM_181784.3(SPRED2):c.1142_1143del (p.Leu381fs) rs2104102138
NM_181784.3(SPRED2):c.299T>C (p.Leu100Pro) rs2104216988
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu) rs119103247
NM_207163.3(LMOD2):c.1193G>A (p.Trp398Ter) rs757677006
NM_207163.3(LMOD2):c.1243_1244del (p.Leu415fs) rs1175931250
NM_207163.3(LMOD2):c.273+1G>A rs2116731333
NR_002196.1(H19):n.-7080_-1781del
PGM1, ARG521TER
SGCA, TYR134TER
TTN:c.106668delA (p.Lys35556Argfs) rs587776772
m.10197G>A rs267606891
m.10663T>C rs1556423844
m.11696G>A rs200873900
m.12338T>C rs201863060
m.12848C>T rs267606899
m.13042G>A rs267606898
m.13045A>C rs267606895
m.13708G>A rs28359178
m.13730G>A rs387906425
m.14459G>A rs199476105
m.14482C>A rs199476108
m.14495A>G rs199476106
m.14596A>T rs387906424
m.15257G>A rs41518645
m.15498G>A rs207460003
m.15812G>A rs200336777
m.3249G>A rs199474667
m.3256C>T rs199474659
m.3394T>C rs41460449
m.3697G>A rs199476122
m.3733G>A rs199476125
m.4136A>G rs199476121
m.4160T>C rs199476119
m.4171C>A rs28616230
m.4216T>C rs1599988
m.4295A>G rs121434467
m.4300A>G rs121434470
m.4640C>A rs387906426
m.4917A>G rs28357980
m.5244G>A rs199476115
m.5877C>T rs118203893
m.5888delT rs118203892
m.611G>A rs118203886
m.8344A>G rs118192098
m.8356T>C rs118192099
m.8361G>A rs118192104
m.9101T>C rs199476134
m.9438G>A rs267606611
m.9804G>A rs200613617
m.9997T>C rs121434475
nsv513807

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.