ClinVar Miner

List of variants reported as pathogenic for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15477
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HGVS dbSNP gnomAD frequency
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_001308093.3(GATA4):c.1150-107A>G rs745379 0.39169
NM_000186.4(CFH):c.1204= (p.His402=) rs1061170 0.36375
NM_001308093.3(GATA4):c.*1256A>T rs12458 0.34439
NM_152709.5(STOX1):c.1824A>C (p.Glu608Asp) rs10509305 0.17379
NM_001308093.3(GATA4):c.*852G>A rs804290 0.15840
NM_001308093.3(GATA4):c.617-61G>C rs10503425 0.10765
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001308093.3(GATA4):c.1000+200G>A rs3729851 0.09369
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04474
NM_001042475.3(CEP85L):c.1020+17269T>G rs77186188 0.04176
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309 0.04051
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_018897.3(DNAH7):c.11947C>T (p.Arg3983Trp) rs114621989 0.00734
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_001365536.1(SCN9A):c.554G>A (p.Arg185His) rs73969684 0.00574
NM_001308093.3(GATA4):c.912+25G>A rs147860174 0.00539
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_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser) rs34255532 0.00275
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375 0.00227
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met) rs140126678 0.00220
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser) rs76763715 0.00191
NM_001308093.3(GATA4):c.*1168T>C rs549543886 0.00185
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln) rs137852769 0.00182
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) rs61757261 0.00165
NM_153717.3(EVC):c.1500G>A (p.Met500Ile) rs149898884 0.00163
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836 0.00156
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val) rs115372595 0.00144
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
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_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) rs113994167 0.00116
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510 0.00113
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) rs61732167 0.00112
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_001354640.2(CIROP):c.92C>T (p.Ser31Phe) rs553352307 0.00106
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_005424.5(TIE1):c.3326G>A (p.Arg1109His) rs34993202 0.00092
NM_005138.3(SCO2):c.16_17insAGCATGCAGCAGTGACTCA (p.Arg6fs) rs749838192 0.00091
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_005257.6(GATA6):c.533C>T (p.Ala178Val) rs387906815 0.00087
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly) rs72544141 0.00085
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905 0.00083
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00083
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_018161.5(NADSYN1):c.1717G>A (p.Ala573Thr) rs144139747 0.00081
NM_032545.4(CFC1):c.522del (p.Ala175fs) rs746231039 0.00079
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
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_001142864.4(PIEZO1):c.5773C>T (p.Arg1925Trp) rs201442593 0.00069
NM_001171.6(ABCC6):c.3940C>T (p.Arg1314Trp) rs63750759 0.00069
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_005257.6(GATA6):c.592C>G (p.Leu198Val) rs387906814 0.00068
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr) rs45563942 0.00066
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418 0.00064
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_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316 0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_001492.6(GDF1):c.681C>A (p.Cys227Ter) rs121434422 0.00058
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val) rs77331749 0.00056
NM_012193.4(FZD4):c.766A>G (p.Ile256Val) rs104894223 0.00054
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_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 0.00046
NM_022162.2(NOD2):c.241C>G (p.Leu81Val) rs34936594 0.00046
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser) rs172149856 0.00043
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr) rs201907325 0.00042
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_003978.5(PSTPIP1):c.203C>T (p.Thr68Met) rs201872851 0.00041
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_001114753.3(ENG):c.-9G>A rs368423516 0.00040
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816 0.00039
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_001040151.2(SCN3B):c.29T>C (p.Leu10Pro) rs121918282 0.00036
NM_004972.4(JAK2):c.1849G>T (p.Val617Phe) rs77375493 0.00036
NM_153717.3(EVC):c.1886+5G>T rs794726665 0.00036
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser) rs150932144 0.00034
NM_018122.5(DARS2):c.492+2T>C rs142433332 0.00034
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00033
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_078470.6(COX15):c.452C>G (p.Ser151Ter) rs149718203 0.00030
NM_001042475.3(CEP85L):c.1020+17275G>C rs188578681 0.00029
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr) rs374016704 0.00028
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp) rs138498207 0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962 0.00025
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_012464.5(TLL1):c.713T>C (p.Val238Ala) rs137852952 0.00025
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_172201.2(KCNE2):c.161T>C (p.Met54Thr) rs74315447 0.00024
NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) rs104894169 0.00023
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603 0.00021
NM_001372.4(DNAH9):c.4719T>G (p.Tyr1573Ter) rs200681631 0.00021
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp) rs121434424 0.00021
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489 0.00021
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_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679 0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_017617.5(NOTCH1):c.1787C>T (p.Thr596Met) rs61755997 0.00020
NM_181703.4(GJA5):c.286G>T (p.Ala96Ser) rs121434557 0.00020
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936 0.00019
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235 0.00019
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965 0.00019
NM_000180.4(GUCY2D):c.2302C>T (p.Arg768Trp) rs61750168 0.00019
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys) rs121913059 0.00019
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000371.4(TTR):c.371G>A (p.Arg124His) rs121918095 0.00019
NM_001171.6(ABCC6):c.1132C>T (p.Gln378Ter) rs72650699 0.00019
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_003737.4(DCHS1):c.7538G>A (p.Arg2513His) rs201457110 0.00019
NM_006767.4(LZTR1):c.1407G>A (p.Trp469Ter) rs777243508 0.00019
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_019055.6(ROBO4):c.190C>T (p.Arg64Cys) rs201393279 0.00019
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) rs121908253 0.00019
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_001171.6(ABCC6):c.2787+1G>T rs72664209 0.00017
NM_000157.4(GBA1):c.222_224del (p.Thr75del) rs761621516 0.00016
NM_000157.4(GBA1):c.882T>G (p.His294Gln) rs367968666 0.00016
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys) rs104894423 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_002526.4(NT5E):c.662C>A (p.Ser221Ter) rs373328681 0.00016
NM_006172.4(NPPA):c.449G>A (p.Arg150Gln) rs202102042 0.00016
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_001458.5(FLNC):c.970-4A>G rs532143625 0.00015
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_004453.4(ETFDH):c.1531G>A (p.Asp511Asn) rs780768015 0.00015
NM_007078.3(LDB3):c.826C>T (p.Arg276Cys) rs397517226 0.00015
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084 0.00014
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251 0.00014
NM_000023.4(SGCA):c.292C>T (p.Arg98Cys) rs138945081 0.00014
NM_000165.5(GJA1):c.1085G>A (p.Arg362Gln) rs2227885 0.00014
NM_003937.3(KYNU):c.170-1G>T rs1135401744 0.00014
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_147191.1(MMP21):c.643G>A (p.Glu215Lys) rs145789868 0.00014
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623 0.00013
NM_000071.3(CBS):c.146C>T (p.Pro49Leu) rs148865119 0.00013
NM_001282225.2(ADA2):c.145C>T (p.Arg49Trp) rs199614299 0.00013
NM_001291303.3(FAT4):c.12851C>T (p.Ser4284Phe) rs199682210 0.00013
NM_002336.3(LRP6):c.1079G>A (p.Arg360His) rs141212743 0.00013
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter) rs119473033 0.00013
NM_020774.4(MIB1):c.2827G>T (p.Val943Phe) rs200035428 0.00013
NM_000021.4(PSEN1):c.617G>C (p.Gly206Ala) rs63750082 0.00012
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala) rs121909298 0.00012
NM_001171.6(ABCC6):c.3490C>T (p.Arg1164Ter) rs72653744 0.00012
NM_145046.5(CALR3):c.564del (p.Gln189fs) rs747656642 0.00012
NM_147127.5(EVC2):c.2848C>T (p.Arg950Trp) rs137852928 0.00012
NM_153717.3(EVC):c.1694del (p.Ala565fs) rs753014919 0.00012
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala) rs904631654 0.00011
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser) rs364897 0.00011
NM_000218.3(KCNQ1):c.671C>T (p.Thr224Met) rs199472706 0.00011
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000335.5(SCN5A):c.1333C>G (p.His445Asp) rs199473112 0.00011
NM_001065.4(TNFRSF1A):c.596T>C (p.Ile199Thr) rs104895247 0.00011
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val) rs72552291 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_182961.4(SYNE1):c.17905C>T (p.Gln5969Ter) rs967105970 0.00011
NM_000071.3(CBS):c.362G>A (p.Arg121His) rs770095972 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034 0.00010
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424 0.00010
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_002775.5(HTRA1):c.961G>A (p.Ala321Thr) rs587776449 0.00010
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) rs267607124 0.00010
NM_006208.3(ENPP1):c.913C>A (p.Pro305Thr) rs374270497 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_030777.4(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173 0.00010
NM_030777.4(SLC2A10):c.691C>T (p.Arg231Trp) rs146579504 0.00010
NM_000018.4(ACADVL):c.1273G>A (p.Ala425Thr) rs138834083 0.00009
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930 0.00009
NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala) rs753792569 0.00009
NM_000152.5(GAA):c.1979G>A (p.Arg660His) rs374143224 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000335.5(SCN5A):c.673C>T (p.Arg225Trp) rs199473072 0.00009
NM_001037.5(SCN1B):c.457G>A (p.Asp153Asn) rs72550247 0.00009
NM_001282225.2(ADA2):c.753G>A (p.Pro251=) rs369924229 0.00009
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu) rs145983824 0.00009
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578 0.00009
NM_138295.5(PKD1L1):c.8005C>T (p.Arg2669Ter) rs137883370 0.00009
NM_182925.5(FLT4):c.2563G>A (p.Ala855Thr) rs121909657 0.00009
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly) rs121917809 0.00008
NM_000071.3(CBS):c.1224-2A>C rs375846341 0.00008
NM_000126.4(ETFA):c.797C>T (p.Thr266Met) rs119458970 0.00008
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.533G>A (p.Arg178His) rs762267535 0.00008
NM_000152.5(GAA):c.853C>T (p.Pro285Ser) rs886042086 0.00008
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro) rs199801029 0.00008
NM_000238.4(KCNH2):c.934C>T (p.Arg312Cys) rs199472885 0.00008
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_000274.4(OAT):c.539G>C (p.Arg180Thr) rs121965040 0.00008
NM_000890.5(KCNJ5):c.1159G>C (p.Gly387Arg) rs199830292 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_147127.5(EVC2):c.3265C>T (p.Gln1089Ter) rs137852927 0.00008
NM_000152.5(GAA):c.1048G>A (p.Val350Met) rs200412003 0.00007
NM_000232.5(SGCB):c.31C>T (p.Gln11Ter) rs752492870 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_001282225.2(ADA2):c.1358A>G (p.Tyr453Cys) rs376785840 0.00007
NM_002234.4(KCNA5):c.913G>A (p.Ala305Thr) rs199794307 0.00007
NM_002775.5(HTRA1):c.1274C>T (p.Ala425Val) rs372750076 0.00007
NM_004453.4(ETFDH):c.51dup (p.Ala18fs) rs796051964 0.00007
NM_004588.5(SCN2B):c.82C>T (p.Arg28Trp) rs17121819 0.00007
NM_005472.5(KCNE3):c.296G>A (p.Arg99His) rs121908441 0.00007
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter) rs201850378 0.00007
NM_033440.3(CELA2A):c.209C>T (p.Thr70Met) rs372947070 0.00007
NM_133459.4(CCBE1):c.223T>A (p.Cys75Ser) rs121908250 0.00007
NM_133459.4(CCBE1):c.683_684insT (p.Leu229fs) rs563023244 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000018.4(ACADVL):c.1434G>A (p.Met478Ile) rs775537775 0.00006
NM_000018.4(ACADVL):c.947G>A (p.Arg316Gln) rs147366714 0.00006
NM_000138.5(FBN1):c.7412C>G (p.Pro2471Arg) rs193922233 0.00006
NM_000152.5(GAA):c.1124G>A (p.Arg375His) rs142752477 0.00006
NM_000152.5(GAA):c.266G>A (p.Arg89His) rs200586324 0.00006
NM_000152.5(GAA):c.655G>A (p.Gly219Arg) rs370950728 0.00006
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581 0.00006
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936 0.00006
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_000218.3(KCNQ1):c.1766G>A (p.Gly589Asp) rs120074190 0.00006
NM_000238.4(KCNH2):c.1655T>C (p.Leu552Ser) rs199472918 0.00006
NM_000256.3(MYBPC3):c.1224-80G>A rs1025692267 0.00006
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000335.5(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111 0.00006
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn) rs137854619 0.00006
NM_000501.4(ELN):c.1150+1G>A rs727503030 0.00006
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp) rs121918619 0.00006
NM_001171.6(ABCC6):c.2294G>A (p.Arg765Gln) rs67561842 0.00006
NM_001267550.2(TTN):c.39974-11T>G rs758597536 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_001282225.2(ADA2):c.1072G>A (p.Gly358Arg) rs45511697 0.00006
NM_001282225.2(ADA2):c.934C>T (p.Arg312Ter) rs368615054 0.00006
NM_001365536.1(SCN9A):c.29A>G (p.Gln10Arg) rs267607030 0.00006
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe) rs150401343 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_003480.4(MFAP5):c.62G>T (p.Trp21Leu) rs724159961 0.00006
NM_004453.4(ETFDH):c.1367C>T (p.Pro456Leu) rs398124152 0.00006
NM_005932.4(MIPEP):c.1534C>G (p.His512Asp) rs779598020 0.00006
NM_006073.4(TRDN):c.613C>T (p.Gln205Ter) rs397515458 0.00006
NM_147127.5(EVC2):c.1024A>T (p.Lys342Ter) rs767072839 0.00006
NM_172201.2(KCNE2):c.79C>T (p.Arg27Cys) rs74315449 0.00006
NM_194318.4(B3GLCT):c.347+5G>A rs80338850 0.00006
NM_000018.4(ACADVL):c.760G>A (p.Gly254Ser) rs765423779 0.00005
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168 0.00005
NM_000023.4(SGCA):c.614C>A (p.Pro205His) rs757481230 0.00005
NM_000169.3(GLA):c.640-801G>A rs199473684 0.00005
NM_000182.5(HADHA):c.180+3A>G rs781222705 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000274.4(OAT):c.1250C>T (p.Pro417Leu) rs121965044 0.00005
NM_000335.5(SCN5A):c.5212C>T (p.Arg1738Trp) rs199473303 0.00005
NM_000435.3(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001171.6(ABCC6):c.3775del (p.Trp1259fs) rs72664233 0.00005
NM_001267550.2(TTN):c.86821+2T>A rs397517735 0.00005
NM_001282225.2(ADA2):c.740C>T (p.Ala247Val) rs750868279 0.00005
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His) rs141638421 0.00005
NM_001378969.1(KCND3):c.1798G>A (p.Gly600Arg) rs149344567 0.00005
NM_002234.4(KCNA5):c.1580C>T (p.Thr527Met) rs121908591 0.00005
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) rs137852765 0.00005
NM_003937.3(KYNU):c.468T>A (p.Tyr156Ter) rs758865880 0.00005
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter) rs748089700 0.00005
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232 0.00005
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_014908.4(DOLK):c.1558A>G (p.Thr520Ala) rs374860681 0.00005
NM_018055.5(NODAL):c.823C>T (p.Arg275Cys) rs781366461 0.00005
NM_018238.4(AGK):c.297+2T>C rs765471424 0.00005
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) rs771466122 0.00005
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243 0.00005
NM_030777.4(SLC2A10):c.395G>A (p.Arg132Gln) rs376346077 0.00005
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp) rs104886142 0.00005
NM_147127.5(EVC2):c.1708C>T (p.Gln570Ter) rs769864196 0.00005
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164 0.00005
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp) rs745832866 0.00004
NM_000018.4(ACADVL):c.1531C>T (p.Arg511Trp) rs771025937 0.00004
NM_000018.4(ACADVL):c.1820G>C (p.Cys607Ser) rs200117742 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000071.3(CBS):c.451G>A (p.Gly151Arg) rs373782713 0.00004
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter) rs754202690 0.00004
NM_000126.4(ETFA):c.667C>T (p.Arg223Ter) rs769976586 0.00004
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys) rs770610356 0.00004
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.1827del (p.Arg608_Tyr609insTer) rs781088002 0.00004
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405 0.00004
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868 0.00004
NM_000152.5(GAA):c.781G>A (p.Ala261Thr) rs543360994 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000157.4(GBA1):c.887G>A (p.Arg296Gln) rs78973108 0.00004
NM_000182.5(HADHA):c.919-2A>G rs200017313 0.00004
NM_000186.4(CFH):c.3234G>T (p.Arg1078Ser) rs121913062 0.00004
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997 0.00004
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963 0.00004
NM_000203.5(IDUA):c.1855C>T (p.Arg619Ter) rs121965031 0.00004
NM_000218.3(KCNQ1):c.613G>A (p.Val205Met) rs151344631 0.00004
NM_000231.3(SGCG):c.195+1G>C rs200502077 0.00004
NM_000232.5(SGCB):c.1_2del (p.Met1fs) rs886042503 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_000302.4(PLOD1):c.1651-2A>G rs565513365 0.00004
NM_000335.5(SCN5A):c.5869C>T (p.Arg1957Ter) rs757532106 0.00004
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335 0.00004
NM_000335.5(SCN5A):c.892G>A (p.Gly298Ser) rs137854608 0.00004
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter) rs730881068 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 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_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000720.4(CACNA1D):c.1127C>T (p.Ala376Val) rs759274321 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001037.5(SCN1B):c.265C>T (p.Arg89Cys) rs766910280 0.00004
NM_001064.4(TKT):c.952C>T (p.Arg318Cys) rs782092363 0.00004
NM_001135055.2:c.769_770insCTACCTCCTTATCTTCTG rs781905246 0.00004
NM_001171.6(ABCC6):c.1552C>T (p.Arg518Ter) rs72650700 0.00004
NM_001171.6(ABCC6):c.3340C>T (p.Arg1114Cys) rs63749794 0.00004
NM_001171.6(ABCC6):c.3412C>T (p.Arg1138Trp) rs28939701 0.00004
NM_001171.6(ABCC6):c.4182del (p.Lys1394fs) rs67791546 0.00004
NM_001204.7(BMPR2):c.797G>C (p.Arg266Thr) rs374694591 0.00004
NM_001204.7(BMPR2):c.908G>A (p.Arg303His) rs200948870 0.00004
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431 0.00004
NM_001267550.2(TTN):c.13696C>T (p.Gln4566Ter) rs775072385 0.00004
NM_001267550.2(TTN):c.67495C>T (p.Arg22499Ter) rs574660186 0.00004
NM_001282225.2(ADA2):c.1147G>A (p.Gly383Ser) rs770689762 0.00004
NM_001282225.2(ADA2):c.752C>T (p.Pro251Leu) rs148936893 0.00004
NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser) rs387906769 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_002633.3(PGM1):c.988G>C (p.Gly330Arg) rs777164338 0.00004
NM_002775.5(HTRA1):c.904C>T (p.Arg302Ter) rs113993970 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_003480.4(MFAP5):c.472C>T (p.Arg158Ter) rs727502791 0.00004
NM_004278.4(PIGL):c.427-1G>A rs770084126 0.00004
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp) rs397514506 0.00004
NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln) rs375086983 0.00004
NM_004453.4(ETFDH):c.1234G>T (p.Glu412Ter) rs398124151 0.00004
NM_004453.4(ETFDH):c.1351G>C (p.Val451Leu) rs558005496 0.00004
NM_004453.4(ETFDH):c.1414G>A (p.Gly472Arg) rs746598421 0.00004
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr) rs121964954 0.00004
NM_004453.4(ETFDH):c.770A>G (p.Tyr257Cys) rs780015493 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_012193.4(FZD4):c.313A>G (p.Met105Val) rs80358284 0.00004
NM_012200.4(B3GAT3):c.175C>T (p.Arg59Ter) rs535206047 0.00004
NM_015141.4(GPD1L):c.817C>T (p.Arg273Cys) rs72552294 0.00004
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283 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_030777.4(SLC2A10):c.1276G>T (p.Gly426Trp) rs121908172 0.00004
NM_030777.4(SLC2A10):c.314G>A (p.Arg105His) rs753280877 0.00004
NM_033629.6(TREX1):c.403C>T (p.Gln135Ter) rs746384382 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_078470.6(COX15):c.649C>T (p.Arg217Trp) rs28939711 0.00004
NM_144573.4(NEXN):c.1174C>T (p.Arg392Ter) rs750076188 0.00004
NM_147127.5(EVC2):c.1195C>T (p.Arg399Ter) rs137852924 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_182961.4(SYNE1):c.15918-12A>G rs606231134 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000018.4(ACADVL):c.1097G>A (p.Arg366His) rs112406105 0.00003
NM_000018.4(ACADVL):c.1182+1G>A rs113690956 0.00003
NM_000018.4(ACADVL):c.1226C>T (p.Thr409Met) rs113994169 0.00003
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154 0.00003
NM_000018.4(ACADVL):c.1711G>A (p.Gly571Arg) rs398123085 0.00003
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp) rs1085307648 0.00003
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp) rs118204014 0.00003
NM_000018.4(ACADVL):c.1838G>A (p.Arg613Gln) rs534647044 0.00003
NM_000023.4(SGCA):c.293G>A (p.Arg98His) rs137852621 0.00003
NM_000023.4(SGCA):c.371T>C (p.Ile124Thr) rs768814872 0.00003
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro) rs143962150 0.00003
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser) rs771298943 0.00003
NM_000090.4(COL3A1):c.724C>T (p.Arg242Ter) rs1333421028 0.00003
NM_000090.4(COL3A1):c.962G>T (p.Gly321Val) rs587779588 0.00003
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg) rs119458971 0.00003
NM_000152.5(GAA):c.1316T>A (p.Met439Lys) rs747610090 0.00003
NM_000152.5(GAA):c.1326+1G>A rs1205507761 0.00003
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser) rs752735168 0.00003
NM_000152.5(GAA):c.1941C>G (p.Cys647Trp) rs776948121 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938 0.00003
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp) rs61736895 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.307T>G (p.Cys103Gly) rs398123174 0.00003
NM_000152.5(GAA):c.546G>A (p.Thr182=) rs143523371 0.00003
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu) rs758447515 0.00003
NM_000157.4(GBA1):c.681T>G (p.Asn227Lys) rs381418 0.00003
NM_000182.5(HADHA):c.1793_1794del (p.His598fs) rs769580842 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_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000218.3(KCNQ1):c.692G>A (p.Arg231His) rs199472709 0.00003
NM_000238.4(KCNH2):c.2587C>T (p.Arg863Ter) rs773724817 0.00003
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005 0.00003
NM_000256.3(MYBPC3):c.927-2A>G rs397516082 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.2081G>A (p.Arg694His) rs886039030 0.00003
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) rs121913632 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000257.4(MYH7):c.3134G>A (p.Arg1045His) rs397516178 0.00003
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000274.4(OAT):c.596C>A (p.Pro199Gln) rs267606925 0.00003
NM_000274.4(OAT):c.897C>G (p.Tyr299Ter) rs121965057 0.00003
NM_000335.5(SCN5A):c.1127G>A (p.Arg376His) rs199473101 0.00003
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val) rs199473220 0.00003
NM_000335.5(SCN5A):c.5767G>A (p.Ala1923Thr) rs137854603 0.00003
NM_001005242.3(PKP2):c.1557-1G>C rs78897684 0.00003
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter) rs751288871 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) rs773204795 0.00003
NM_001013703.4(EIF2AK4):c.3406C>T (p.Arg1136Ter) rs587777105 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001127217.3(SMAD9):c.127A>G (p.Lys43Glu) rs397514715 0.00003
NM_001142864.4(PIEZO1):c.1264C>T (p.Gln422Ter) rs934897228 0.00003
NM_001142864.4(PIEZO1):c.6511G>T (p.Val2171Phe) rs370296725 0.00003
NM_001166345.3(MDFIC):c.732T>G (p.Phe244Leu) rs77149653 0.00003
NM_001171.6(ABCC6):c.1256G>A (p.Arg419Gln) rs772434460 0.00003
NM_001171.6(ABCC6):c.3662G>A (p.Arg1221His) rs63751001 0.00003
NM_001171.6(ABCC6):c.3904G>A (p.Gly1302Arg) rs63749856 0.00003
NM_001171.6(ABCC6):c.4016G>A (p.Arg1339His) rs63750622 0.00003
NM_001171.6(ABCC6):c.4104del (p.Asp1368fs) rs72664237 0.00003
NM_001204.7(BMPR2):c.1981G>T (p.Glu661Ter) rs759293027 0.00003
NM_001204.7(BMPR2):c.2708A>G (p.Asn903Ser) rs373725296 0.00003
NM_001232.4(CASQ2):c.923C>T (p.Pro308Leu) rs139228801 0.00003
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn) rs147879266 0.00003
NM_001267550.2(TTN):c.15922C>T (p.Arg5308Ter) rs886042995 0.00003
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter) rs769097909 0.00003
NM_001267550.2(TTN):c.40963G>T (p.Glu13655Ter) rs727504198 0.00003
NM_001267550.2(TTN):c.41641C>T (p.Arg13881Ter) rs747469275 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_001267550.2(TTN):c.89197+1G>C rs1131691873 0.00003
NM_001267550.2(TTN):c.9610C>T (p.Arg3204Ter) rs757836789 0.00003
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile) rs397516686 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu) rs879255639 0.00003
NM_001927.4(DES):c.226del (p.Thr76fs) rs1399282762 0.00003
NM_001943.5(DSG2):c.3039C>A (p.Tyr1013Ter) rs539821357 0.00003
NM_001985.3(ETFB):c.274C>T (p.Pro92Ser) rs758509148 0.00003
NM_002234.4(KCNA5):c.1828G>A (p.Glu610Lys) rs121908593 0.00003
NM_002253.4(KDR):c.3439C>T (p.Pro1147Ser) rs121917766 0.00003
NM_002435.3(MPI):c.1193T>C (p.Ile398Thr) rs369326210 0.00003
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494 0.00003
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906 0.00003
NM_002775.5(HTRA1):c.1108C>T (p.Arg370Ter) rs113993971 0.00003
NM_002834.5(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) rs775636212 0.00003
NM_003737.4(DCHS1):c.6988C>T (p.Arg2330Cys) rs768737101 0.00003
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter) rs201217593 0.00003
NM_004006.3(DMD):c.1812+1G>A rs373286166 0.00003
NM_004168.4(SDHA):c.223C>T (p.Arg75Ter) rs781764920 0.00003
NM_004415.4(DSP):c.4855del (p.Leu1619fs) rs1231490307 0.00003
NM_004415.4(DSP):c.6310del (p.Thr2104fs) rs730880092 0.00003
NM_004453.4(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388 0.00003
NM_004453.4(ETFDH):c.1366C>T (p.Pro456Ser) rs751821289 0.00003
NM_004453.4(ETFDH):c.1448C>T (p.Pro483Leu) rs377656387 0.00003
NM_004453.4(ETFDH):c.1773_1774del (p.Thr591_Cys592insTer) rs767795266 0.00003
NM_004453.4(ETFDH):c.405+3A>T rs796051965 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_006073.4(TRDN):c.22+29A>G rs774068079 0.00003
NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln) rs200834568 0.00003
NM_012200.4(B3GAT3):c.673C>T (p.Arg225Ter) rs377340567 0.00003
NM_016204.4(GDF2):c.76C>T (p.Gln26Ter) rs1555208696 0.00003
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter) rs368115694 0.00003
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu) rs397514744 0.00003
NM_024422.6(DSC2):c.663T>A (p.Tyr221Ter) rs145476705 0.00003
NM_024741.3(ZNF408):c.1363C>T (p.His455Tyr) rs373273223 0.00003
NM_025207.5(FLAD1):c.568_569dup (p.Val191fs) rs876661310 0.00003
NM_032588.4(TRIM63):c.390C>G (p.Ile130Met) rs377334933 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_033629.6(TREX1):c.500del (p.Ser167fs) rs76642637 0.00003
NM_080424.4(SP110):c.1362dup (p.Asp455Ter) rs754452211 0.00003
NM_147127.5(EVC2):c.264C>A (p.Cys88Ter) rs965707319 0.00003
NM_147127.5(EVC2):c.341C>G (p.Ser114Ter) rs748820015 0.00003
NM_147127.5(EVC2):c.3659+2T>C rs200300612 0.00003
NM_153717.3(EVC):c.1018C>T (p.Arg340Ter) rs121908425 0.00003
NM_153717.3(EVC):c.1668C>G (p.Tyr556Ter) rs765269619 0.00003
NM_153717.3(EVC):c.175-2A>G rs767186464 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_181486.4(TBX5):c.145C>A (p.Gln49Lys) rs104894383 0.00003
NM_198282.4(STING1):c.463G>A (p.Val155Met) rs587777610 0.00003
NM_000018.4(ACADVL):c.1024T>C (p.Phe342Leu) rs1356652354 0.00002
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp) rs2309689 0.00002
NM_000018.4(ACADVL):c.1358G>A (p.Arg453Gln) rs138058572 0.00002
NM_000018.4(ACADVL):c.1366C>T (p.Arg456Cys) rs794727111 0.00002
NM_000018.4(ACADVL):c.1679-6G>A rs113994171 0.00002
NM_000018.4(ACADVL):c.790A>G (p.Lys264Glu) rs1231343685 0.00002
NM_000018.4(ACADVL):c.881_884dup (p.Pro296fs) rs766192888 0.00002
NM_000020.3(ACVRL1):c.208G>A (p.Gly70Arg) rs1439294840 0.00002
NM_000023.4(SGCA):c.100C>T (p.Arg34Cys) rs758647756 0.00002
NM_000023.4(SGCA):c.197T>A (p.Leu66His) rs767928766 0.00002
NM_000126.4(ETFA):c.625C>T (p.Arg209Ter) rs199763682 0.00002
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_000138.5(FBN1):c.6844C>T (p.Arg2282Trp) rs765205164 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000152.5(GAA):c.1076-22T>G rs762260678 0.00002
NM_000152.5(GAA):c.1441T>C (p.Trp481Arg) rs772883420 0.00002
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) rs121907942 0.00002
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys) rs765362308 0.00002
NM_000152.5(GAA):c.1735G>A (p.Glu579Lys) rs991082382 0.00002
NM_000152.5(GAA):c.1798C>T (p.Arg600Cys) rs764670084 0.00002
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp) rs757617999 0.00002
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909 0.00002
NM_000152.5(GAA):c.2015G>A (p.Arg672Gln) rs778418246 0.00002
NM_000152.5(GAA):c.2407C>T (p.Gln803Ter) rs1344266804 0.00002
NM_000152.5(GAA):c.868A>G (p.Asn290Asp) rs552929702 0.00002
NM_000157.4(GBA1):c.721G>A (p.Gly241Arg) rs409652 0.00002
NM_000182.5(HADHA):c.1678C>T (p.Arg560Ter) rs137852771 0.00002
NM_000182.5(HADHA):c.676+2T>C rs772683361 0.00002
NM_000182.5(HADHA):c.955G>A (p.Gly319Ser) rs752317877 0.00002
NM_000186.4(CFH):c.1873G>T (p.Glu625Ter) rs150694809 0.00002
NM_000191.3(HMGCL):c.27del (p.Arg10fs) rs1409716731 0.00002
NM_000203.5(IDUA):c.1743C>G (p.Tyr581Ter) rs776787370 0.00002
NM_000203.5(IDUA):c.1882C>T (p.Arg628Ter) rs756572099 0.00002
NM_000218.3(KCNQ1):c.1239del (p.Lys414fs) rs778786253 0.00002
NM_000218.3(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854 0.00002
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813 0.00002
NM_000218.3(KCNQ1):c.569G>A (p.Arg190Gln) rs120074178 0.00002
NM_000218.3(KCNQ1):c.898G>A (p.Ala300Thr) rs120074187 0.00002
NM_000231.3(SGCG):c.386-1G>A rs913248720 0.00002
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys) rs555514820 0.00002
NM_000232.5(SGCB):c.551A>G (p.Tyr184Cys) rs1365923535 0.00002
NM_000238.4(KCNH2):c.656A>T (p.Asp219Val) rs587777907 0.00002
NM_000243.3(MEFV):c.1099C>G (p.Leu367Val) rs1057519328 0.00002
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr) rs121913640 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.2420G>A (p.Arg807His) rs141414377 0.00002
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000258.3(MYL3):c.461G>A (p.Arg154His) rs104893749 0.00002
NM_000302.4(PLOD1):c.1533C>G (p.Tyr511Ter) rs121913552 0.00002
NM_000335.5(SCN5A):c.1410C>G (p.Asn470Lys) rs199473115 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000432.4(MYL2):c.436G>A (p.Val146Met) rs370075755 0.00002
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NM_001013703.4(EIF2AK4):c.3344C>T (p.Pro1115Leu) rs774906916 0.00002
NM_001013703.4(EIF2AK4):c.3766C>T (p.Arg1256Ter) rs587777207 0.00002
NM_001037.5(SCN1B):c.254G>A (p.Arg85His) rs16969925 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) rs372615994 0.00002
NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter) rs794729150 0.00002
NM_001171.6(ABCC6):c.2248-2_2248-1del rs111113624 0.00002
NM_001171.6(ABCC6):c.3491G>A (p.Arg1164Gln) rs63750457 0.00002
NM_001204.7(BMPR2):c.1687G>A (p.Val563Met) rs557172581 0.00002
NM_001206641.3(COA6):c.349G>T (p.Glu117Ter) rs146440690 0.00002
NM_001232.4(CASQ2):c.164A>G (p.Tyr55Cys) rs1436844070 0.00002
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg) rs375159973 0.00002
NM_001267550.2(TTN):c.107377+1G>A rs112188483 0.00002
NM_001267550.2(TTN):c.89265G>A (p.Trp29755Ter) rs1179247052 0.00002
NM_001267550.2(TTN):c.98299_98300del (p.Arg32767fs) rs397517776 0.00002
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245 0.00002
NM_001276345.2(TNNT2):c.544G>T (p.Ala182Ser) rs730881097 0.00002
NM_001282225.2(ADA2):c.1085G>A (p.Trp362Ter) rs755007390 0.00002
NM_001282225.2(ADA2):c.336C>G (p.His112Gln) rs587777241 0.00002
NM_001282225.2(ADA2):c.940_941del (p.Lys314fs) rs768987774 0.00002
NM_001289808.2(CRYAB):c.34C>T (p.Arg12Cys) rs375933774 0.00002
NM_001308093.3(GATA4):c.1078G>A (p.Glu360Lys) rs368489876 0.00002
NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu) rs104894654 0.00002
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser) rs774263134 0.00002
NM_001553.3(IGFBP7):c.829G>A (p.Gly277Ser) rs764942670 0.00002
NM_001904.4(CTNNB1):c.2128C>T (p.Arg710Cys) rs748653573 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_002336.3(LRP6):c.1298A>G (p.Asn433Ser) rs397515473 0.00002
NM_002336.3(LRP6):c.1418G>A (p.Arg473Gln) rs397515474 0.00002
NM_002336.3(LRP6):c.1831C>T (p.Arg611Cys) rs121918313 0.00002
NM_002435.3(MPI):c.264del (p.Asp88fs) rs868127074 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_003937.3(KYNU):c.616G>A (p.Glu206Lys) rs765122670 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_004453.4(ETFDH):c.1832G>A (p.Gly611Glu) rs761669036 0.00002
NM_004453.4(ETFDH):c.545G>A (p.Trp182Ter) rs767249944 0.00002
NM_004588.5(SCN2B):c.83G>A (p.Arg28Gln) rs72544145 0.00002
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter) rs727503326 0.00002
NM_005061.3(RPL3L):c.347G>A (p.Arg116His) rs376654625 0.00002
NM_005138.3(SCO2):c.178C>T (p.Arg60Trp) rs753779965 0.00002
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter) rs74315512 0.00002
NM_005477.3(HCN4):c.1123C>T (p.Arg375Cys) rs755356387 0.00002
NM_005932.4(MIPEP):c.1970+2T>A rs773688171 0.00002
NM_005932.4(MIPEP):c.916C>T (p.Leu306Phe) rs143912947 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015978.3(TNNI3K):c.2302G>A (p.Glu768Lys) rs202238194 0.00002
NM_018238.4(AGK):c.672C>A (p.Tyr224Ter) rs771945804 0.00002
NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) rs765379963 0.00002
NM_020778.5(ALPK3):c.297del (p.Ile99fs) rs770674513 0.00002
NM_020778.5(ALPK3):c.4130-1G>A rs762110595 0.00002
NM_020884.7(MYH7B):c.624+1G>A rs1050997719 0.00002
NM_024422.6(DSC2):c.943-1G>A rs796756333 0.00002
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter) rs370547023 0.00002
NM_030777.4(SLC2A10):c.692G>A (p.Arg231Gln) rs771028960 0.00002
NM_080424.4(SP110):c.1342C>T (p.Arg448Ter) rs199844454 0.00002
NM_080424.4(SP110):c.686dup (p.Gln231fs) rs763364899 0.00002
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys) rs1247205097 0.00002
NM_133459.4(CCBE1):c.520T>C (p.Cys174Arg) rs121908254 0.00002
NM_138295.5(PKD1L1):c.160+1G>A rs753911740 0.00002
NM_145054.5(CFAP52):c.811G>A (p.Gly271Arg) rs140921334 0.00002
NM_147127.5(EVC2):c.1896C>A (p.Tyr632Ter) rs779707723 0.00002
NM_147127.5(EVC2):c.2620C>T (p.Arg874Ter) rs760382778 0.00002
NM_147127.5(EVC2):c.3121C>T (p.Gln1041Ter) rs376133710 0.00002
NM_147127.5(EVC2):c.3660del (p.Ser1220fs) rs753581033 0.00002
NM_153717.3(EVC):c.2635C>T (p.Gln879Ter) rs121908424 0.00002
NM_153717.3(EVC):c.2782+1G>T rs1007534611 0.00002
NM_182961.4(SYNE1):c.14644C>T (p.Arg4882Ter) rs375077588 0.00002
NM_182961.4(SYNE1):c.21463C>T (p.Arg7155Ter) rs778445117 0.00002
NM_182961.4(SYNE1):c.91C>T (p.Arg31Ter) rs199708211 0.00002
NM_182961.4(SYNE1):c.9208C>T (p.Arg3070Ter) rs549779256 0.00002
NM_198968.4(DZIP1):c.72C>A (p.Ser24Arg) rs1378714230 0.00002
NM_000018.4(ACADVL):c.1001T>G (p.Met334Arg) rs398123079 0.00001
NM_000018.4(ACADVL):c.1064T>C (p.Ile355Thr) rs1351976589 0.00001
NM_000018.4(ACADVL):c.1077+1G>T rs140989450 0.00001
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser) rs758928307 0.00001
NM_000018.4(ACADVL):c.1146G>C (p.Lys382Asn) rs1057523504 0.00001
NM_000018.4(ACADVL):c.1182+3G>T rs376281637 0.00001
NM_000018.4(ACADVL):c.1268C>A (p.Ser423Ter) rs1451455641 0.00001
NM_000018.4(ACADVL):c.1316G>A (p.Gly439Asp) rs533055438 0.00001
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) rs118204016 0.00001
NM_000018.4(ACADVL):c.1357C>T (p.Arg453Ter) rs794727113 0.00001
NM_000018.4(ACADVL):c.1360G>A (p.Asp454Asn) rs1419606204 0.00001
NM_000018.4(ACADVL):c.1368dup (p.Ile457fs) rs1175359422 0.00001
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu) rs118204017 0.00001
NM_000018.4(ACADVL):c.1375C>T (p.Arg459Trp) rs766742117 0.00001
NM_000018.4(ACADVL):c.138+1G>A rs747351687 0.00001
NM_000018.4(ACADVL):c.1388G>A (p.Gly463Glu) rs200366828 0.00001
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.1406G>A (p.Arg469Gln) rs398123083 0.00001
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666 0.00001
NM_000018.4(ACADVL):c.1532G>A (p.Arg511Gln) rs200771970 0.00001
NM_000018.4(ACADVL):c.1540G>A (p.Gly514Arg) rs370282954 0.00001
NM_000018.4(ACADVL):c.1748C>T (p.Ser583Leu) rs1085307648 0.00001
NM_000018.4(ACADVL):c.1807dup (p.Cys603fs) rs1555529088 0.00001
NM_000018.4(ACADVL):c.1820G>A (p.Cys607Tyr) rs200117742 0.00001
NM_000018.4(ACADVL):c.227G>A (p.Gly76Glu) rs750043368 0.00001
NM_000018.4(ACADVL):c.253dup (p.Asp85fs) rs1247360325 0.00001
NM_000018.4(ACADVL):c.343-1G>A rs1555527877 0.00001
NM_000018.4(ACADVL):c.364A>G (p.Asn122Asp) rs1057520088 0.00001
NM_000018.4(ACADVL):c.406C>T (p.Leu136Phe) rs1460246415 0.00001
NM_000018.4(ACADVL):c.476A>G (p.Gln159Arg) rs746688190 0.00001
NM_000018.4(ACADVL):c.497_498del (p.Ile166fs) rs1057516369 0.00001
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr) rs727503791 0.00001
NM_000018.4(ACADVL):c.553G>A (p.Gly185Ser) rs545215807 0.00001
NM_000018.4(ACADVL):c.577G>C (p.Gly193Arg) rs763630981 0.00001
NM_000018.4(ACADVL):c.603C>G (p.Tyr201Ter) rs371407903 0.00001
NM_000018.4(ACADVL):c.605T>C (p.Leu202Pro) rs398123090 0.00001
NM_000018.4(ACADVL):c.63-2A>C rs1555527513 0.00001
NM_000018.4(ACADVL):c.637G>C (p.Ala213Pro) rs140629318 0.00001
NM_000018.4(ACADVL):c.652_682dup (p.Ile228fs) rs746860401 0.00001
NM_000018.4(ACADVL):c.655C>A (p.Pro219Thr) rs772898391 0.00001
NM_000018.4(ACADVL):c.664G>A (p.Gly222Arg) rs398123091 0.00001
NM_000018.4(ACADVL):c.685C>T (p.Arg229Ter) rs786204536 0.00001
NM_000018.4(ACADVL):c.694G>A (p.Ala232Thr) rs746944448 0.00001
NM_000018.4(ACADVL):c.751A>G (p.Ser251Gly) rs749159573 0.00001
NM_000018.4(ACADVL):c.753-2A>C rs398123092 0.00001
NM_000018.4(ACADVL):c.770del (p.Asp257fs) rs2071264706 0.00001
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln) rs202216257 0.00001
NM_000018.4(ACADVL):c.878+1G>C rs757946752 0.00001
NM_000018.4(ACADVL):c.887_888del (p.Pro296fs) rs753108198 0.00001
NM_000018.4(ACADVL):c.896A>T (p.Lys299Met) rs771247610 0.00001
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) rs1060503248 0.00001
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) rs1131691686 0.00001
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) rs121909284 0.00001
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) rs1085307426 0.00001
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) rs121909288 0.00001
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) rs1085307405 0.00001
NM_000023.4(SGCA):c.101G>A (p.Arg34His) rs371675217 0.00001
NM_000023.4(SGCA):c.157+1G>A rs113109898 0.00001
NM_000023.4(SGCA):c.157G>A (p.Ala53Thr) rs60407644 0.00001
NM_000023.4(SGCA):c.220C>T (p.Arg74Trp) rs757888349 0.00001
NM_000023.4(SGCA):c.313-2A>G rs1057516650 0.00001
NM_000023.4(SGCA):c.409G>A (p.Glu137Lys) rs372210292 0.00001
NM_000023.4(SGCA):c.489del (p.Leu164fs) rs753650776 0.00001
NM_000023.4(SGCA):c.530del (p.Ser177fs) rs886041387 0.00001
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter) rs387907298 0.00001
NM_000023.4(SGCA):c.585-1G>A rs1342189589 0.00001
NM_000062.3(SERPING1):c.1198C>T (p.Arg400Cys) rs201363394 0.00001
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr) rs1347651454 0.00001
NM_000071.3(CBS):c.797G>A (p.Arg266Lys) rs121964969 0.00001
NM_000089.4(COL1A2):c.1404+1G>A rs67162110 0.00001
NM_000126.4(ETFA):c.470T>G (p.Val157Gly) rs119458969 0.00001
NM_000126.4(ETFA):c.625del (p.Arg209fs) rs1209473816 0.00001
NM_000138.5(FBN1):c.1693C>T (p.Arg565Ter) rs113422242 0.00001
NM_000138.5(FBN1):c.1879C>T (p.Arg627Cys) rs727503057 0.00001
NM_000138.5(FBN1):c.2920C>T (p.Arg974Cys) rs397514558 0.00001
NM_000138.5(FBN1):c.2986T>C (p.Cys996Arg) rs140592 0.00001
NM_000138.5(FBN1):c.3031G>A (p.Gly1011Arg) rs1267721327 0.00001
NM_000138.5(FBN1):c.3128A>G (p.Lys1043Arg) rs137854472 0.00001
NM_000138.5(FBN1):c.3463G>A (p.Asp1155Asn) rs794728204 0.00001
NM_000138.5(FBN1):c.347-2A>G rs1555405056 0.00001
NM_000138.5(FBN1):c.4057G>A (p.Gly1353Arg) rs187177496 0.00001
NM_000138.5(FBN1):c.4460-8G>A rs193922204 0.00001
NM_000138.5(FBN1):c.5471G>A (p.Cys1824Tyr) rs1597537858 0.00001
NM_000138.5(FBN1):c.5512G>A (p.Gly1838Ser) rs397515823 0.00001
NM_000138.5(FBN1):c.5788+5G>A rs193922219 0.00001
NM_000138.5(FBN1):c.6113G>A (p.Cys2038Tyr) rs363804 0.00001
NM_000138.5(FBN1):c.6163+2dup rs794728315 0.00001
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) rs112989722 0.00001
NM_000138.5(FBN1):c.6448C>T (p.Arg2150Cys) rs76702162 0.00001
NM_000138.5(FBN1):c.6772T>G (p.Cys2258Gly) rs1057520617 0.00001
NM_000138.5(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228 0.00001
NM_000138.5(FBN1):c.6916C>T (p.Arg2306Cys) rs1318405523 0.00001
NM_000138.5(FBN1):c.7183G>A (p.Gly2395Arg) rs1448650040 0.00001
NM_000138.5(FBN1):c.7339G>A (p.Glu2447Lys) rs137854464 0.00001
NM_000138.5(FBN1):c.776G>A (p.Gly259Glu) rs751169871 0.00001
NM_000138.5(FBN1):c.7916A>G (p.Tyr2639Cys) rs794728280 0.00001
NM_000138.5(FBN1):c.8051+5G>A rs767384075 0.00001
NM_000138.5(FBN1):c.8326C>T (p.Arg2776Ter) rs137854466 0.00001
NM_000138.5(FBN1):c.994C>T (p.Arg332Cys) rs1161109360 0.00001
NM_000152.5(GAA):c.1064T>C (p.Leu355Pro) rs766074609 0.00001
NM_000152.5(GAA):c.1076-1G>C rs1555600050 0.00001
NM_000152.5(GAA):c.1082C>T (p.Pro361Leu) rs755253527 0.00001
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238 0.00001
NM_000152.5(GAA):c.118C>T (p.Arg40Ter) rs767409395 0.00001
NM_000152.5(GAA):c.1210G>A (p.Asp404Asn) rs141533320 0.00001
NM_000152.5(GAA):c.1211A>G (p.Asp404Gly) rs886042961 0.00001
NM_000152.5(GAA):c.1222A>G (p.Met408Val) rs560575383 0.00001
NM_000152.5(GAA):c.1292_1295dup (p.Gln433fs) rs996798292 0.00001
NM_000152.5(GAA):c.1327-2A>G rs1410829147 0.00001
NM_000152.5(GAA):c.1411_1414del (p.Glu471fs) rs770276275 0.00001
NM_000152.5(GAA):c.1441del (p.Trp481fs) rs1403500889 0.00001
NM_000152.5(GAA):c.1447G>A (p.Gly483Arg) rs770590394 0.00001
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn) rs748047271 0.00001
NM_000152.5(GAA):c.1551+1G>T rs770780848 0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr) rs786204720 0.00001
NM_000152.5(GAA):c.1561G>A (p.Glu521Lys) rs121907937 0.00001
NM_000152.5(GAA):c.1610del (p.Glu537fs) rs762060817 0.00001
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663 0.00001
NM_000152.5(GAA):c.172C>T (p.Gln58Ter) rs201185475 0.00001
NM_000152.5(GAA):c.1754+1G>A rs886043399 0.00001
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr) rs753505203 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.1802C>T (p.Ser601Leu) rs374470794 0.00001
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1822C>T (p.Arg608Ter) rs749529161 0.00001
NM_000152.5(GAA):c.1826dup (p.Tyr609Ter) rs786204727 0.00001
NM_000152.5(GAA):c.1843G>A (p.Gly615Arg) rs549029029 0.00001
NM_000152.5(GAA):c.1856G>A (p.Ser619Asn) rs753269119 0.00001
NM_000152.5(GAA):c.1942G>A (p.Gly648Ser) rs536906561 0.00001
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn) rs763456921 0.00001
NM_000152.5(GAA):c.1962_1964del (p.Glu656del) rs1030961946 0.00001
NM_000152.5(GAA):c.2014C>T (p.Arg672Trp) rs757111744 0.00001
NM_000152.5(GAA):c.2040+1G>T rs1057516928 0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys) rs786204645 0.00001
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly) rs1479740763 0.00001
NM_000152.5(GAA):c.2296T>A (p.Tyr766Asn) rs941181575 0.00001
NM_000152.5(GAA):c.2331+2T>A rs1057517148 0.00001
NM_000152.5(GAA):c.2482-2A>G rs756671283 0.00001
NM_000152.5(GAA):c.2512C>T (p.Gln838Ter) rs369532274 0.00001
NM_000152.5(GAA):c.2647-7G>A rs192679574 0.00001
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter) rs765718882 0.00001
NM_000152.5(GAA):c.2706del (p.Lys903fs) rs1428358278 0.00001
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys) rs1403885484 0.00001
NM_000152.5(GAA):c.281_282del (p.Pro94fs) rs1057516503 0.00001
NM_000152.5(GAA):c.365del (p.Met122fs) rs786204661 0.00001
NM_000152.5(GAA):c.568C>T (p.Arg190Cys) rs771258854 0.00001
NM_000152.5(GAA):c.670C>T (p.Arg224Trp) rs757700700 0.00001
NM_000152.5(GAA):c.671G>A (p.Arg224Gln) rs200210219 0.00001
NM_000152.5(GAA):c.692+5G>T rs763027848 0.00001
NM_000152.5(GAA):c.701C>T (p.Thr234Met) rs752054011 0.00001
NM_000152.5(GAA):c.871C>T (p.Leu291Phe) rs773417785 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile) rs76539814 0.00001
NM_000157.4(GBA1):c.1174C>T (p.Arg392Trp) rs121908308 0.00001
NM_000157.4(GBA1):c.1184C>T (p.Ser395Phe) rs760307559 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.1505G>A (p.Arg502His) rs80356772 0.00001
NM_000157.4(GBA1):c.1603C>T (p.Arg535Cys) rs747506979 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.595_596del (p.Leu199fs) rs749714463 0.00001
NM_000157.4(GBA1):c.625C>T (p.Arg209Cys) rs398123532 0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) rs1064644 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_000169.3(GLA):c.644A>G (p.Asn215Ser) rs28935197 0.00001
NM_000180.4(GUCY2D):c.1561C>T (p.Arg521Ter) rs748798324 0.00001
NM_000182.5(HADHA):c.1132C>T (p.Gln378Ter) rs137852770 0.00001
NM_000182.5(HADHA):c.1195C>T (p.Arg399Ter) rs1243779049 0.00001
NM_000182.5(HADHA):c.1237A>T (p.Lys413Ter) rs1057516461 0.00001
NM_000182.5(HADHA):c.1916_1919dup (p.Glu641fs) rs796051971 0.00001
NM_000182.5(HADHA):c.2026C>T (p.Arg676Cys) rs771028541 0.00001
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844 0.00001
NM_000182.5(HADHA):c.2200A>T (p.Lys734Ter) rs1322871046 0.00001
NM_000182.5(HADHA):c.315-1G>A rs1458898996 0.00001
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter) rs1212444447 0.00001
NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg) rs762903007 0.00001
NM_000203.5(IDUA):c.1487C>G (p.Pro496Arg) rs772416503 0.00001
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877 0.00001
NM_000203.5(IDUA):c.1898C>T (p.Ser633Leu) rs886043347 0.00001
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450 0.00001
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029 0.00001
NM_000203.5(IDUA):c.386-2A>G rs777295041 0.00001
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878 0.00001
NM_000203.5(IDUA):c.653T>C (p.Leu218Pro) rs869025584 0.00001
NM_000214.3(JAG1):c.2429C>T (p.Pro810Leu) rs769531968 0.00001
NM_000218.3(KCNQ1):c.1031C>T (p.Ala344Val) rs199472763 0.00001
NM_000218.3(KCNQ1):c.1032+1G>A rs397508070 0.00001
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=) rs1800171 0.00001
NM_000218.3(KCNQ1):c.1034G>A (p.Gly345Glu) rs120074183 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1588C>T (p.Gln530Ter) rs397508097 0.00001
NM_000218.3(KCNQ1):c.1590+1G>A rs767921776 0.00001
NM_000218.3(KCNQ1):c.1597C>T (p.Arg533Trp) rs199472793 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1664G>A (p.Arg555His) rs199472800 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.1876G>A (p.Gly626Ser) rs199472821 0.00001
NM_000218.3(KCNQ1):c.332A>G (p.Tyr111Cys) rs199472678 0.00001
NM_000218.3(KCNQ1):c.477+1G>A rs762814879 0.00001
NM_000218.3(KCNQ1):c.477+5G>A rs397508111 0.00001
NM_000218.3(KCNQ1):c.502G>A (p.Gly168Arg) rs179489 0.00001
NM_000218.3(KCNQ1):c.520C>T (p.Arg174Cys) rs199472696 0.00001
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) rs199472697 0.00001
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser) rs199473394 0.00001
NM_000218.3(KCNQ1):c.560T>C (p.Leu187Pro) rs199473399 0.00001
NM_000218.3(KCNQ1):c.604G>A (p.Asp202Asn) rs199472702 0.00001
NM_000218.3(KCNQ1):c.605A>G (p.Asp202Gly) rs794728569 0.00001
NM_000218.3(KCNQ1):c.643G>A (p.Val215Met) rs17215479 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000218.3(KCNQ1):c.683+5G>A rs397508122 0.00001
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys) rs199473457 0.00001
NM_000218.3(KCNQ1):c.727C>T (p.Arg243Cys) rs199472713 0.00001
NM_000218.3(KCNQ1):c.728G>A (p.Arg243His) rs120074196 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000218.3(KCNQ1):c.806G>A (p.Gly269Asp) rs120074194 0.00001
NM_000218.3(KCNQ1):c.815G>A (p.Gly272Asp) rs199472726 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000218.3(KCNQ1):c.905C>T (p.Ala302Val) rs193922365 0.00001
NM_000218.3(KCNQ1):c.914G>A (p.Trp305Ter) rs120074186 0.00001
NM_000219.6(KCNE1):c.221C>T (p.Ser74Leu) rs74315446 0.00001
NM_000231.3(SGCG):c.342dup (p.Ala115fs) rs1262459682 0.00001
NM_000231.3(SGCG):c.559del (p.Asp187fs) rs1484553312 0.00001
NM_000231.3(SGCG):c.579-2A>G rs754415994 0.00001
NM_000231.3(SGCG):c.581T>C (p.Leu194Ser) rs547818652 0.00001
NM_000231.3(SGCG):c.752del (p.Thr251fs) rs886042749 0.00001
NM_000231.3(SGCG):c.87dup (p.Gly30fs) rs762777463 0.00001
NM_000232.5(SGCB):c.1A>G (p.Met1Val) rs398123262 0.00001
NM_000232.5(SGCB):c.265G>A (p.Val89Met) rs762652676 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000232.5(SGCB):c.499G>A (p.Gly167Ser) rs779516489 0.00001
NM_000232.5(SGCB):c.544A>C (p.Thr182Pro) rs751427686 0.00001
NM_000232.5(SGCB):c.601C>T (p.Gln201Ter) rs773554421 0.00001
NM_000232.5(SGCB):c.621+1G>T rs1264362642 0.00001
NM_000232.5(SGCB):c.622-2A>G rs780596734 0.00001
NM_000238.4(KCNH2):c.1474C>T (p.His492Tyr) rs199472910 0.00001
NM_000238.4(KCNH2):c.1750G>A (p.Gly584Ser) rs199473428 0.00001
NM_000238.4(KCNH2):c.2254C>T (p.Arg752Trp) rs199472990 0.00001
NM_000238.4(KCNH2):c.2255G>A (p.Arg752Gln) rs121912512 0.00001
NM_000238.4(KCNH2):c.2266A>G (p.Met756Val) rs199473534 0.00001
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538 0.00001
NM_000238.4(KCNH2):c.2842C>T (p.Arg948Cys) rs121912514 0.00001
NM_000238.4(KCNH2):c.3040C>T (p.Arg1014Ter) rs794728403 0.00001
NM_000243.3(MEFV):c.1211A>G (p.His404Arg) rs755659290 0.00001
NM_000256.3(MYBPC3):c.1188G>A (p.Trp396Ter) rs397515890 0.00001
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.1458-1G>C rs397515903 0.00001
NM_000256.3(MYBPC3):c.2012_2013insGG (p.Pro672fs) rs2095886347 0.00001
NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln) rs397515945 0.00001
NM_000256.3(MYBPC3):c.2258dup (p.Lys754fs) rs774521272 0.00001
NM_000256.3(MYBPC3):c.2273G>A (p.Gly758Asp) rs1163861044 0.00001
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln) rs397515964 0.00001
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966 0.00001
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.2865del (p.Val956fs) rs2095880935 0.00001
NM_000256.3(MYBPC3):c.3190+1G>A rs111683277 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3226_3227insT (p.Asp1076fs) rs397516008 0.00001
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.3408C>A (p.Tyr1136Ter) rs193922383 0.00001
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020 0.00001
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.436dup (p.Thr146fs) rs397516049 0.00001
NM_000256.3(MYBPC3):c.747C>A (p.Cys249Ter) rs771929829 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile) rs730880868 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 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.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly) rs727504239 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.2333A>T (p.Asp778Val) rs121913634 0.00001
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln) rs730880748 0.00001
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157 0.00001
NM_000257.4(MYH7):c.2594A>G (p.Lys865Arg) rs758891557 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 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.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000257.4(MYH7):c.4075C>T (p.Arg1359Cys) rs45451303 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202 0.00001
NM_000257.4(MYH7):c.4186C>T (p.Arg1396Trp) rs730880793 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala) rs397516218 0.00001
NM_000257.4(MYH7):c.5029C>T (p.Arg1677Cys) rs377461670 0.00001
NM_000257.4(MYH7):c.5279C>T (p.Thr1760Met) rs727505294 0.00001
NM_000257.4(MYH7):c.5588G>A (p.Arg1863Gln) rs45520836 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000257.4(MYH7):c.5762G>A (p.Arg1921Gln) rs397516256 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 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.281G>A (p.Arg94His) rs199474703 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000274.4(OAT):c.1058G>A (p.Gly353Asp) rs121965053 0.00001
NM_000274.4(OAT):c.1192C>T (p.Arg398Ter) rs200068769 0.00001
NM_000274.4(OAT):c.1307T>A (p.Ile436Asn) rs386833598 0.00001
NM_000274.4(OAT):c.162C>A (p.Asn54Lys) rs121965048 0.00001
NM_000274.4(OAT):c.163T>C (p.Tyr55His) rs121965037 0.00001
NM_000274.4(OAT):c.677C>T (p.Ala226Val) rs121965059 0.00001
NM_000274.4(OAT):c.721_722dup (p.Asp242fs) rs1468939642 0.00001
NM_000274.4(OAT):c.722C>T (p.Pro241Leu) rs121965051 0.00001
NM_000274.4(OAT):c.734A>G (p.Tyr245Cys) rs121965046 0.00001
NM_000274.4(OAT):c.748C>T (p.Arg250Ter) rs386833617 0.00001
NM_000274.4(OAT):c.796C>T (p.Gln266Ter) rs1951458291 0.00001
NM_000274.4(OAT):c.800C>T (p.Thr267Ile) rs386833618 0.00001
NM_000274.4(OAT):c.881T>A (p.Leu294His) rs752974288 0.00001
NM_000274.4(OAT):c.952G>A (p.Glu318Lys) rs386833621 0.00001
NM_000274.4(OAT):c.991C>T (p.Arg331Ter) rs386833623 0.00001
NM_000277.3(PAH):c.781C>T (p.Arg261Ter) rs5030850 0.00001
NM_000301.5(PLG):c.988A>G (p.Lys330Glu) rs889957249 0.00001
NM_000302.4(PLOD1):c.166C>T (p.Gln56Ter) rs1433428588 0.00001
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771 0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp) rs61755783 0.00001
NM_000322.5(PRPH2):c.828+3A>T rs281865373 0.00001
NM_000335.5(SCN5A):c.1066G>A (p.Asp356Asn) rs199473565 0.00001
NM_000335.5(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097 0.00001
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln) rs199473121 0.00001
NM_000335.5(SCN5A):c.1963G>A (p.Glu655Lys) rs199473579 0.00001
NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser) rs137854616 0.00001
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn) rs137854618 0.00001
NM_000335.5(SCN5A):c.3890C>T (p.Pro1297Leu) rs28937319 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter) rs199473284 0.00001
NM_000335.5(SCN5A):c.4892G>A (p.Arg1631His) rs199473286 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.5224G>A (p.Gly1742Arg) rs199473305 0.00001
NM_000335.5(SCN5A):c.5299A>G (p.Ile1767Val) rs199473311 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000335.5(SCN5A):c.5690G>A (p.Arg1897His) rs370694515 0.00001
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln) rs45546039 0.00001
NM_000337.6(SGCD):c.10C>T (p.Gln4Ter) rs1768838504 0.00001
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter) rs121909295 0.00001
NM_000363.5(TNNI3):c.146dup (p.Lys50fs) rs1162696593 0.00001
NM_000363.5(TNNI3):c.24+2T>A rs777702465 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243 0.00001
NM_000371.4(TTR):c.118G>A (p.Val40Ile) rs121918093 0.00001
NM_000371.4(TTR):c.130C>T (p.Pro44Ser) rs11541790 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.239C>T (p.Thr80Ile) rs1254341785 0.00001
NM_000371.4(TTR):c.293A>T (p.Tyr98Phe) rs958191819 0.00001
NM_000371.4(TTR):c.301G>A (p.Ala101Thr) rs730881165 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_000390.4(CHM):c.1446del (p.Gly483fs) rs1244003380 0.00001
NM_000390.4(CHM):c.1609+2dup rs386833676 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000432.4(MYL2):c.278C>A (p.Ala93Glu) rs774193307 0.00001
NM_000432.4(MYL2):c.283C>G (p.Pro95Ala) rs121913658 0.00001
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys) rs1202763005 0.00001
NM_000435.3(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303 0.00001
NM_000435.3(NOTCH3):c.544C>T (p.Arg182Cys) rs28933697 0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348 0.00001
NM_000459.5(TEK):c.2545C>T (p.Arg849Trp) rs80338908 0.00001
NM_000492.4(CFTR):c.2490+2T>C rs1057516216 0.00001
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422 0.00001
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_000546.6(TP53):c.455C>T (p.Pro152Leu) rs587782705 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.524G>A (p.Arg175His) rs28934578 0.00001
NM_000546.6(TP53):c.535C>T (p.His179Tyr) rs587780070 0.00001
NM_000546.6(TP53):c.541C>T (p.Arg181Cys) rs587782596 0.00001
NM_000546.6(TP53):c.560-1G>A rs1202793339 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.711G>A (p.Met237Ile) rs587782664 0.00001
NM_000546.6(TP53):c.713G>A (p.Cys238Tyr) rs730882005 0.00001
NM_000546.6(TP53):c.733G>A (p.Gly245Ser) rs28934575 0.00001
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_000685.5(AGTR1):c.419G>A (p.Arg140His) rs570056677 0.00001
NM_000702.4(ATP1A2):c.1244C>T (p.Thr415Met) rs121918618 0.00001
NM_000702.4(ATP1A2):c.1261C>T (p.Arg421Ter) rs1165052640 0.00001
NM_000702.4(ATP1A2):c.2152G>A (p.Asp718Asn) rs121918614 0.00001
NM_000702.4(ATP1A2):c.857T>C (p.Ile286Thr) rs121918617 0.00001
NM_000719.7(CACNA1C):c.1553G>A (p.Arg518His) rs1057517711 0.00001
NM_000891.3(KCNJ2):c.430G>A (p.Gly144Ser) rs199473378 0.00001
NM_000961.4(PTGIS):c.1358+2T>C rs13306026 0.00001
NM_001005242.3(PKP2):c.1063C>T (p.Arg355Ter) rs754912778 0.00001
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986 0.00001
NM_001005242.3(PKP2):c.1162C>T (p.Arg388Trp) rs766209297 0.00001
NM_001005242.3(PKP2):c.1171-2A>G rs794729133 0.00001
NM_001005242.3(PKP2):c.1379-1998C>T rs151212477 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001005242.3(PKP2):c.1671del (p.Asp557fs) rs794729129 0.00001
NM_001005242.3(PKP2):c.1716C>A (p.Tyr572Ter) rs1486464304 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001005242.3(PKP2):c.1834A>T (p.Lys612Ter) rs1158333072 0.00001
NM_001005242.3(PKP2):c.1846C>T (p.Gln616Ter) rs762753884 0.00001
NM_001005242.3(PKP2):c.390C>G (p.Tyr130Ter) rs763303290 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001005242.3(PKP2):c.837_838del (p.Val280fs) rs772220644 0.00001
NM_001009606.4(HS3ST6):c.430A>T (p.Thr144Ser) rs746467957 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001013703.4(EIF2AK4):c.1928T>G (p.Leu643Arg) rs757852728 0.00001
NM_001013703.4(EIF2AK4):c.2136_2139dup (p.Ser714fs) rs751247185 0.00001
NM_001013703.4(EIF2AK4):c.3448C>T (p.Arg1150Ter) rs587777208 0.00001
NM_001013703.4(EIF2AK4):c.745C>T (p.Arg249Ter) rs202140402 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001035.3(RYR2):c.12334G>A (p.Asp4112Asn) rs1695348814 0.00001
NM_001035.3(RYR2):c.1240C>T (p.Arg414Cys) rs764698152 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001035.3(RYR2):c.848+1G>A rs772984053 0.00001
NM_001035.3(RYR2):c.9352G>A (p.Gly3118Arg) rs730880194 0.00001
NM_001037.5(SCN1B):c.3G>C (p.Met1Ile) rs2064208424 0.00001
NM_001037.5(SCN1B):c.448+88G>A rs267607028 0.00001
NM_001040113.2(MYH11):c.644del (p.Ser215fs) rs1378450928 0.00001
NM_001040151.2(SCN3B):c.389C>T (p.Ala130Val) rs587777556 0.00001
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met) rs137852954 0.00001
NM_001079802.2(FKTN):c.139C>T (p.Arg47Ter) rs119463990 0.00001
NM_001079802.2(FKTN):c.346C>T (p.Gln116Ter) rs119463991 0.00001
NM_001079802.2(FKTN):c.607C>T (p.Arg203Ter) rs746763506 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_001106.4(ACVR2B):c.1480G>A (p.Val494Ile) rs121434438 0.00001
NM_001110556.2(FLNA):c.1910C>T (p.Pro637Leu) rs267606815 0.00001
NM_001114753.3(ENG):c.-10C>T rs756994701 0.00001
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter) rs1554809450 0.00001
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp) rs1434169817 0.00001
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) rs745316066 0.00001
NM_001114753.3(ENG):c.524-2A>G rs1060501414 0.00001
NM_001114753.3(ENG):c.816+6T>C rs759191907 0.00001
NM_001122630.2(CDKN1C):c.546del (p.Pro183fs) rs1848940003 0.00001
NM_001127217.3(SMAD9):c.880C>T (p.Arg294Ter) rs397514716 0.00001
NM_001130682.3(GUCY1A1):c.1045C>T (p.Arg349Ter) rs587777321 0.00001
NM_001130682.3(GUCY1A1):c.1086+1G>T rs587777320 0.00001
NM_001130682.3(GUCY1A1):c.1258C>T (p.Arg420Ter) rs373182378 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_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220 0.00001
NM_001136239.4(PRDM6):c.1385A>G (p.Gln462Arg) rs879253872 0.00001
NM_001136271.3(NKX2-6):c.453_454insT (p.Lys152Ter) rs587777422 0.00001
NM_001142864.4(PIEZO1):c.3796+1G>A rs869025599 0.00001
NM_001142864.4(PIEZO1):c.7289C>T (p.Pro2430Leu) rs869025601 0.00001
NM_001146.5(ANGPT1):c.355G>T (p.Ala119Ser) rs764987358 0.00001
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) rs121912683 0.00001
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_001165963.4(SCN1A):c.4495T>C (p.Phe1499Leu) rs121918632 0.00001
NM_001171.6(ABCC6):c.3507-1G>A rs72664210 0.00001
NM_001171.6(ABCC6):c.3736-1G>A rs63750273 0.00001
NM_001171.6(ABCC6):c.3823C>T (p.Arg1275Ter) rs72653749 0.00001
NM_001204.7(BMPR2):c.1750C>T (p.Arg584Ter) rs765887545 0.00001
NM_001204.7(BMPR2):c.1771C>T (p.Arg591Ter) rs777458559 0.00001
NM_001204.7(BMPR2):c.295T>C (p.Cys99Arg) rs863223425 0.00001
NM_001204.7(BMPR2):c.853-2A>G rs863223424 0.00001
NM_001232.4(CASQ2):c.576C>A (p.Tyr192Ter) rs758748280 0.00001
NM_001232.4(CASQ2):c.733C>T (p.Gln245Ter) rs754834466 0.00001
NM_001232.4(CASQ2):c.783G>A (p.Trp261Ter) rs776874142 0.00001
NM_001232.4(CASQ2):c.98G>A (p.Arg33Gln) rs749547712 0.00001
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) rs397514563 0.00001
NM_001256071.3(RNF213):c.12391C>T (p.Arg4131Cys) rs556513891 0.00001
NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) rs766265889 0.00001
NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) rs794729305 0.00001
NM_001267550.2(TTN):c.105805del (p.Thr35269fs) rs752787097 0.00001
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter) rs779948923 0.00001
NM_001267550.2(TTN):c.106954C>T (p.Arg35652Ter) rs565675340 0.00001
NM_001267550.2(TTN):c.107578C>T (p.Gln35860Ter) rs1009131948 0.00001
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter) rs757082154 0.00001
NM_001267550.2(TTN):c.14093-1G>A rs869312099 0.00001
NM_001267550.2(TTN):c.16054G>A (p.Asp5352Asn) rs1190242728 0.00001
NM_001267550.2(TTN):c.160G>A (p.Val54Met) rs139517732 0.00001
NM_001267550.2(TTN):c.16288C>T (p.Arg5430Ter) rs772235481 0.00001
NM_001267550.2(TTN):c.22930C>T (p.Arg7644Ter) rs1340940049 0.00001
NM_001267550.2(TTN):c.35794G>T (p.Glu11932Ter) rs878854299 0.00001
NM_001267550.2(TTN):c.35828dup (p.Glu11945Argfs) rs765879488 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.44816-1G>A rs749705939 0.00001
NM_001267550.2(TTN):c.44899C>T (p.Arg14967Ter) rs727505350 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.47494C>T (p.Arg15832Ter) rs751746401 0.00001
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736 0.00001
NM_001267550.2(TTN):c.50170C>T (p.Arg16724Ter) rs794729265 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001267550.2(TTN):c.52009C>T (p.Arg17337Ter) rs1343120755 0.00001
NM_001267550.2(TTN):c.53743C>T (p.Arg17915Ter) rs753333359 0.00001
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507 0.00001
NM_001267550.2(TTN):c.56806C>T (p.Arg18936Ter) rs72646828 0.00001
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275 0.00001
NM_001267550.2(TTN):c.59460G>A (p.Trp19820Ter) rs1250461669 0.00001
NM_001267550.2(TTN):c.60733C>T (p.Arg20245Ter) rs1057522256 0.00001
NM_001267550.2(TTN):c.61921C>T (p.Arg20641Ter) rs878854324 0.00001
NM_001267550.2(TTN):c.67349-2A>C rs753948675 0.00001
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 0.00001
NM_001267550.2(TTN):c.73846C>T (p.Arg24616Ter) rs794729284 0.00001
NM_001267550.2(TTN):c.76654C>T (p.Arg25552Ter) rs545954490 0.00001
NM_001267550.2(TTN):c.78178G>T (p.Glu26060Ter) rs794729289 0.00001
NM_001267550.2(TTN):c.80716C>T (p.Arg26906Ter) rs727505284 0.00001
NM_001267550.2(TTN):c.82240C>T (p.Arg27414Ter) rs766840243 0.00001
NM_001267550.2(TTN):c.83416C>T (p.Arg27806Ter) rs886055237 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu) rs753334568 0.00001
NM_001267550.2(TTN):c.97050dup (p.Glu32351fs) rs794729365 0.00001
NM_001267550.2(TTN):c.98506C>T (p.Arg32836Ter) rs869312085 0.00001
NM_001276345.2(TNNT2):c.287A>C (p.Asp96Ala) rs397516455 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln) rs121964856 0.00001
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln) rs730881101 0.00001
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482 0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys) rs2036159242 0.00001
NM_001282225.2(ADA2):c.1078A>G (p.Thr360Ala) rs775440641 0.00001
NM_001282225.2(ADA2):c.2T>C (p.Met1Thr) rs745795188 0.00001
NM_001289808.2(CRYAB):c.2T>C (p.Met1Thr) rs577253222 0.00001
NM_001289808.2(CRYAB):c.343del (p.Ser115fs) rs281865142 0.00001
NM_001292034.3(TAB2):c.622C>T (p.Pro208Ser) rs267607101 0.00001
NM_001292034.3(TAB2):c.688C>A (p.Gln230Lys) rs267607100 0.00001
NM_001308093.3(GATA4):c.25G>A (p.Ala9Thr) rs864321699 0.00001
NM_001354640.2(CIROP):c.1037G>A (p.Trp346Ter) rs1014082266 0.00001
NM_001354640.2(CIROP):c.1151C>T (p.Ser384Leu) rs183023758 0.00001
NM_001367549.1(ATP13A3):c.2549dup (p.Met850fs) rs1560082927 0.00001
NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser) rs775975702 0.00001
NM_001458.5(FLNC):c.3791-1G>C rs781135153 0.00001
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met) rs1420394583 0.00001
NM_001492.6(GDF1):c.800G>A (p.Cys267Tyr) rs121434423 0.00001
NM_001519.4(BRF1):c.654G>C (p.Trp218Cys) rs1343140353 0.00001
NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) rs112901682 0.00001
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) rs121434526 0.00001
NM_001613.4(ACTA2):c.554G>A (p.Arg185Gln) rs1057521105 0.00001
NM_001613.4(ACTA2):c.592C>T (p.Arg198Cys) rs772862676 0.00001
NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys) rs121434528 0.00001
NM_001719.3(BMP7):c.523C>T (p.Arg175Trp) rs1476787716 0.00001
NM_001846.4(COL4A2):c.1776+1G>A rs886039602 0.00001
NM_001927.4(DES):c.1237G>T (p.Glu413Ter) rs61726467 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001927.4(DES):c.254_255insT (p.Gly86fs) rs1273708097 0.00001
NM_001927.4(DES):c.322G>T (p.Glu108Ter) rs62636490 0.00001
NM_001927.4(DES):c.369del (p.Ile123fs) rs747289875 0.00001
NM_001927.4(DES):c.600del (p.Lys201fs) rs727504448 0.00001
NM_001927.4(DES):c.634C>T (p.Arg212Ter) rs781590560 0.00001
NM_001927.4(DES):c.885G>A (p.Trp295Ter) rs146755676 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.1750C>T (p.Gln584Ter) rs794728086 0.00001
NM_001943.5(DSG2):c.2375_2379dup (p.Asp794fs) rs773328409 0.00001
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter) rs753052874 0.00001
NM_001943.5(DSG2):c.3G>A (p.Met1Ile) rs1021457619 0.00001
NM_001943.5(DSG2):c.523+2T>C rs397516709 0.00001
NM_001943.5(DSG2):c.690+1G>A rs750176752 0.00001
NM_001985.3(ETFB):c.490C>T (p.Arg164Trp) rs148045813 0.00001
NM_002230.4(JUP):c.343C>T (p.Arg115Ter) rs782203227 0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692 0.00001
NM_002234.4(KCNA5):c.143A>G (p.Glu48Gly) rs587777336 0.00001
NM_002234.4(KCNA5):c.1727C>T (p.Ala576Val) rs121908592 0.00001
NM_002246.3(KCNK3):c.544G>A (p.Glu182Lys) rs398123042 0.00001
NM_002335.4(LRP5):c.1270G>A (p.Asp424Asn) rs761131376 0.00001
NM_002335.4(LRP5):c.2202G>A (p.Trp734Ter) rs121908667 0.00001
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) rs886043590 0.00001
NM_002335.4(LRP5):c.442C>T (p.Gln148Ter) rs1396340484 0.00001
NM_002335.4(LRP5):c.731C>T (p.Thr244Met) rs397514665 0.00001
NM_002408.4(MGAT2):c.1120C>T (p.His374Tyr) rs776531113 0.00001
NM_002408.4(MGAT2):c.91C>T (p.Gln31Ter) rs1310787426 0.00001
NM_002435.3(MPI):c.1253G>A (p.Arg418His) rs863225087 0.00001
NM_002435.3(MPI):c.13C>T (p.Arg5Ter) rs1452559752 0.00001
NM_002435.3(MPI):c.166C>T (p.Arg56Ter) rs757168691 0.00001
NM_002435.3(MPI):c.251C>G (p.Ser84Ter) rs978284448 0.00001
NM_002435.3(MPI):c.488-1G>C rs759579169 0.00001
NM_002435.3(MPI):c.652A>T (p.Lys218Ter) rs1057516424 0.00001
NM_002435.3(MPI):c.718C>T (p.Gln240Ter) rs776340315 0.00001
NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys) rs267606905 0.00001
NM_002471.4(MYH6):c.735T>G (p.Phe245Leu) rs1263987728 0.00001
NM_002476.2(MYL4):c.234del (p.Cys78fs) rs776650813 0.00001
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu) rs267606920 0.00001
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237 0.00001
NM_002526.4(NT5E):c.1073G>A (p.Cys358Tyr) rs387906620 0.00001
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter) rs745993071 0.00001
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter) rs397515423 0.00001
NM_002633.3(PGM1):c.1544G>A (p.Arg515Gln) rs1453920894 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_002633.3(PGM1):c.649C>T (p.Arg217Ter) rs770066171 0.00001
NM_002775.5(HTRA1):c.767T>C (p.Ile256Thr) rs201305795 0.00001
NM_002775.5(HTRA1):c.889G>A (p.Val297Met) rs113993969 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_002834.5(PTPN11):c.1492C>T (p.Arg498Trp) rs397507541 0.00001
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.166A>G (p.Ile56Val) rs397507504 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) rs397507529 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_002890.3(RASA1):c.2245C>T (p.Arg749Ter) rs1204340475 0.00001
NM_002890.3(RASA1):c.2333dup (p.Ser779fs) rs1347210621 0.00001
NM_002890.3(RASA1):c.2365C>T (p.Arg789Ter) rs1463885690 0.00001
NM_002890.3(RASA1):c.261_262del (p.Gly89fs) rs1384480619 0.00001
NM_003098.3(SNTA1):c.1169C>T (p.Ala390Val) rs121434500 0.00001
NM_003140.3(SRY):c.270C>G (p.Ile90Met) rs104894959 0.00001
NM_003238.6(TGFB2):c.583G>T (p.Glu195Ter) rs863223790 0.00001
NM_003239.5(TGFB3):c.*495C>T rs387906514 0.00001
NM_003242.6(TGFBR2):c.761G>A (p.Arg254His) rs751948498 0.00001
NM_003242.6(TGFBR2):c.95-2A>G rs779131465 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp) rs730881061 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_003476.5(CSRP3):c.337A>T (p.Lys113Ter) rs863224716 0.00001
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter) rs902082118 0.00001
NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter) rs1216811263 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655 0.00001
NM_003673.4(TCAP):c.66G>A (p.Trp22Ter) rs141019458 0.00001
NM_003673.4(TCAP):c.75G>A (p.Trp25Ter) rs778851652 0.00001
NM_003937.3(KYNU):c.788A>G (p.His263Arg) rs1458654786 0.00001
NM_003978.5(PSTPIP1):c.364G>A (p.Val122Ile) rs886041107 0.00001
NM_004168.4(SDHA):c.1432_1432+1del rs878854627 0.00001
NM_004168.4(SDHA):c.1663+1G>T rs766667009 0.00001
NM_004168.4(SDHA):c.553C>T (p.Gln185Ter) rs775827529 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val) rs104893902 0.00001
NM_004415.4(DSP):c.1582C>T (p.Gln528Ter) rs1267435790 0.00001
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_004415.4(DSP):c.268C>T (p.Gln90Ter) rs886039343 0.00001
NM_004415.4(DSP):c.3805C>T (p.Arg1269Ter) rs767643821 0.00001
NM_004415.4(DSP):c.3865C>T (p.Gln1289Ter) rs778178956 0.00001
NM_004415.4(DSP):c.4305_4309del (p.Thr1436fs) rs1554108287 0.00001
NM_004415.4(DSP):c.4518del (p.Arg1506fs) rs1289037294 0.00001
NM_004415.4(DSP):c.4531C>T (p.Gln1511Ter) rs397516940 0.00001
NM_004415.4(DSP):c.7000C>T (p.Arg2334Ter) rs369482721 0.00001
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter) rs1561703331 0.00001
NM_004415.4(DSP):c.7641C>G (p.Tyr2547Ter) rs1464253797 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004444.5(EPHB4):c.1093C>T (p.Arg365Ter) rs1279971868 0.00001
NM_004453.4(ETFDH):c.1211T>C (p.Met404Thr) rs779253471 0.00001
NM_004453.4(ETFDH):c.121C>T (p.Arg41Ter) rs773668457 0.00001
NM_004453.4(ETFDH):c.1285+1G>A rs767046886 0.00001
NM_004453.4(ETFDH):c.1333T>C (p.Trp445Arg) rs1156517377 0.00001
NM_004453.4(ETFDH):c.1399G>C (p.Gly467Arg) rs1174882036 0.00001
NM_004453.4(ETFDH):c.151C>T (p.Arg51Trp) rs187248590 0.00001
NM_004453.4(ETFDH):c.1601C>T (p.Pro534Leu) rs200920510 0.00001
NM_004453.4(ETFDH):c.1690+1G>T rs917285990 0.00001
NM_004453.4(ETFDH):c.1809G>A (p.Trp603Ter) rs796051960 0.00001
NM_004453.4(ETFDH):c.1852T>C (p.Ter618Gln) rs765742496 0.00001
NM_004453.4(ETFDH):c.34G>C (p.Ala12Pro) rs1172887273 0.00001
NM_004453.4(ETFDH):c.389A>T (p.Asp130Val) rs199899494 0.00001
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg) rs779896449 0.00001
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn) rs748289922 0.00001
NM_004453.4(ETFDH):c.79C>T (p.Pro27Ser) rs537038850 0.00001
NM_004453.4(ETFDH):c.814G>A (p.Gly272Arg) rs763541530 0.00001
NM_004453.4(ETFDH):c.858G>A (p.Trp286Ter) rs1235904433 0.00001
NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln) rs113605875 0.00001
NM_004612.4(TGFBR1):c.521G>T (p.Gly174Val) rs121918713 0.00001
NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser) rs760079636 0.00001
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_004999.4(MYO6):c.238C>T (p.Arg80Ter) rs727504567 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_005188.4(CBL):c.1096-1G>T rs397517076 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_005424.5(TIE1):c.1441C>T (p.Arg481Cys) rs139244400 0.00001
NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg) rs794727637 0.00001
NM_005477.3(HCN4):c.1454C>T (p.Ala485Val) rs1454748709 0.00001
NM_005477.3(HCN4):c.1657G>A (p.Asp553Asn) rs104894485 0.00001
NM_005733.3(KIF20A):c.544C>T (p.Arg182Trp) rs771130761 0.00001
NM_005751.5(AKAP9):c.4709C>T (p.Ser1570Leu) rs121908566 0.00001
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys) rs121913499 0.00001
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp) rs1343295267 0.00001
NM_005902.4(SMAD3):c.277C>T (p.Arg93Ter) rs768713596 0.00001
NM_006073.4(TRDN):c.176C>T (p.Thr59Met) rs397515459 0.00001
NM_006073.4(TRDN):c.529A>T (p.Lys177Ter) rs1468290898 0.00001
NM_006073.4(TRDN):c.541G>T (p.Glu181Ter) rs1198103383 0.00001
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722 0.00001
NM_006208.3(ENPP1):c.1737G>C (p.Leu579Phe) rs121918024 0.00001
NM_006208.3(ENPP1):c.1756G>A (p.Gly586Arg) rs777367269 0.00001
NM_006208.3(ENPP1):c.2344C>T (p.Arg782Ter) rs1782357136 0.00001
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter) rs770933647 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.2220-17C>A rs1249726034 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 0.00001
NM_006912.6(RIT1):c.104G>C (p.Ser35Thr) rs869025189 0.00001
NM_006912.6(RIT1):c.251C>T (p.Ala84Val) rs869025196 0.00001
NM_007078.3(LDB3):c.2146C>T (p.Pro716Ser) rs1847527818 0.00001
NM_007078.3(LDB3):c.617C>T (p.Thr206Ile) rs121908337 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048 0.00001
NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln) rs80358294 0.00001
NM_012200.4(B3GAT3):c.245C>T (p.Pro82Leu) rs755601885 0.00001
NM_012200.4(B3GAT3):c.481C>T (p.Arg161Trp) rs765246909 0.00001
NM_012200.4(B3GAT3):c.505C>T (p.Arg169Trp) rs766019547 0.00001
NM_012200.4(B3GAT3):c.889C>T (p.Arg297Trp) rs759636773 0.00001
NM_012205.3(HAAO):c.323G>A (p.Arg108Gln) rs1363954556 0.00001
NM_012205.3(HAAO):c.483dup (p.Asp162Ter) rs527656756 0.00001
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr) rs782457908 0.00001
NM_012337.3(CFAP45):c.907C>T (p.Arg303Ter) rs201144590 0.00001
NM_012338.4(TSPAN12):c.146C>T (p.Thr49Met) rs538591733 0.00001
NM_012338.4(TSPAN12):c.301dup (p.Leu101fs) rs1407226293 0.00001
NM_012338.4(TSPAN12):c.562G>C (p.Gly188Arg) rs267607151 0.00001
NM_012338.4(TSPAN12):c.734T>C (p.Leu245Pro) rs200519776 0.00001
NM_013451.4(MYOF):c.651G>T (p.Arg217Ser) rs1256778304 0.00001
NM_014000.3(VCL):c.2923C>T (p.Arg975Trp) rs121917776 0.00001
NM_014243.3(ADAMTS3):c.280C>T (p.Arg94Ter) rs747975445 0.00001
NM_014243.3(ADAMTS3):c.503T>C (p.Leu168Pro) rs1177851177 0.00001
NM_015474.4(SAMHD1):c.433C>T (p.Arg145Ter) rs121434517 0.00001
NM_015965.7(NDUFA13):c.107T>C (p.Leu36Pro) rs2061098856 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_016204.4(GDF2):c.254C>T (p.Pro85Leu) rs199804679 0.00001
NM_017636.4(TRPM4):c.19G>A (p.Glu7Lys) rs267607142 0.00001
NM_017636.4(TRPM4):c.490C>T (p.Arg164Trp) rs387907216 0.00001
NM_017780.4(CHD7):c.2657G>A (p.Arg886Gln) rs1384228127 0.00001
NM_017780.4(CHD7):c.6194G>A (p.Arg2065His) rs1197494895 0.00001
NM_017827.4(SARS2):c.1205G>A (p.Arg402His) rs370842354 0.00001
NM_018055.5(NODAL):c.891+1G>A rs878855044 0.00001
NM_018161.5(NADSYN1):c.145T>C (p.Cys49Arg) rs769220327 0.00001
NM_018238.4(AGK):c.409C>T (p.Arg137Ter) rs746709222 0.00001
NM_018238.4(AGK):c.412C>T (p.Arg138Ter) rs1199705359 0.00001
NM_018238.4(AGK):c.841C>T (p.Arg281Ter) rs387907025 0.00001
NM_018419.3(SOX18):c.310G>C (p.Ala104Pro) rs28936692 0.00001
NM_018714.3(COG1):c.1428G>A (p.Trp476Ter) rs1227032564 0.00001
NM_018897.3(DNAH7):c.8209G>A (p.Gly2737Ser) rs770861172 0.00001
NM_020433.5(JPH2):c.421T>C (p.Tyr141His) rs387906897 0.00001
NM_020778.5(ALPK3):c.2470dup (p.Ser824fs) rs1567093598 0.00001
NM_020778.5(ALPK3):c.3340C>T (p.Arg1114Ter) rs751041696 0.00001
NM_020778.5(ALPK3):c.4213C>T (p.Arg1405Ter) rs1344615174 0.00001
NM_020778.5(ALPK3):c.4234C>T (p.Arg1412Ter) rs1431206462 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_024408.4(NOTCH2):c.5222C>T (p.Ser1741Leu) rs1570660422 0.00001
NM_024422.6(DSC2):c.1123C>T (p.Arg375Ter) rs794728075 0.00001
NM_024422.6(DSC2):c.2084G>A (p.Trp695Ter) rs963715928 0.00001
NM_024422.6(DSC2):c.34_35del (p.Gly12fs) rs1395367133 0.00001
NM_024422.6(DSC2):c.631-2A>G rs397514042 0.00001
NM_024422.6(DSC2):c.69+1G>A rs1245669690 0.00001
NM_024817.3(THSD4):c.2341C>T (p.Arg781Trp) rs767807136 0.00001
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter) rs199979286 0.00001
NM_030777.4(SLC2A10):c.1309G>A (p.Glu437Lys) rs763220502 0.00001
NM_030777.4(SLC2A10):c.1465G>C (p.Gly489Arg) rs201268555 0.00001
NM_030777.4(SLC2A10):c.648C>G (p.Tyr216Ter) rs1015798796 0.00001
NM_030777.4(SLC2A10):c.685C>T (p.Arg229Ter) rs756457861 0.00001
NM_032578.4(MYPN):c.2653C>T (p.Arg885Ter) rs199476412 0.00001
NM_032578.4(MYPN):c.3263G>A (p.Arg1088His) rs71584501 0.00001
NM_032638.5(GATA2):c.1081C>T (p.Arg361Cys) rs1426175410 0.00001
NM_032656.4(DHX37):c.923G>A (p.Arg308Gln) rs1384892917 0.00001
NM_033337.3(CAV3):c.236T>G (p.Leu79Arg) rs121909282 0.00001
NM_033337.3(CAV3):c.6_7del (p.Met2fs) rs1060502318 0.00001
NM_033337.3(CAV3):c.80G>A (p.Arg27Gln) rs116840778 0.00001
NM_033440.3(CELA2A):c.253C>A (p.Leu85Met) rs558493952 0.00001
NM_033629.6(TREX1):c.357G>A (p.Trp119Ter) rs747399274 0.00001
NM_033629.6(TREX1):c.490C>T (p.Arg164Ter) rs78218009 0.00001
NM_053025.4(MYLK):c.2182C>T (p.Arg728Cys) rs143468713 0.00001
NM_078470.6(COX15):c.305G>A (p.Trp102Ter) rs778412019 0.00001
NM_080424.4(SP110):c.1891C>T (p.Arg631Ter) rs1011767398 0.00001
NM_130468.4(CHST14):c.171del (p.Leu58fs) rs1256212335 0.00001
NM_130468.4(CHST14):c.638G>C (p.Arg213Pro) rs121908257 0.00001
NM_130468.4(CHST14):c.878A>G (p.Tyr293Cys) rs121908258 0.00001
NM_133171.5(ELMO2):c.1065+1G>A rs768410753 0.00001
NM_138295.5(PKD1L1):c.5072G>C (p.Cys1691Ser) rs886037834 0.00001
NM_144573.4(NEXN):c.1171C>T (p.Arg391Ter) rs200106758 0.00001
NM_144573.4(NEXN):c.1302del (p.Ile435fs) rs747902604 0.00001
NM_144573.4(NEXN):c.391C>G (p.Gln131Glu) rs387907079 0.00001
NM_144573.4(NEXN):c.799G>T (p.Glu267Ter) rs771262904 0.00001
NM_144573.4(NEXN):c.991G>T (p.Glu331Ter) rs533331740 0.00001
NM_145020.5(CFAP53):c.121C>T (p.Arg41Ter) rs375801610 0.00001
NM_145020.5(CFAP53):c.472A>G (p.Arg158Gly) rs886037751 0.00001
NM_147127.5(EVC2):c.1303C>T (p.Gln435Ter) rs1369020144 0.00001
NM_147127.5(EVC2):c.1386_1387del (p.Arg463fs) rs772840335 0.00001
NM_147127.5(EVC2):c.1713dup (p.Asn572fs) rs1553836165 0.00001
NM_147127.5(EVC2):c.1855C>T (p.Gln619Ter) rs137852925 0.00001
NM_147127.5(EVC2):c.1949_1963del (p.Phe650_Lys655delinsTer) rs1431987950 0.00001
NM_147127.5(EVC2):c.2056dup (p.Gln686fs) rs1265421045 0.00001
NM_147127.5(EVC2):c.2092C>T (p.Arg698Ter) rs781623802 0.00001
NM_147127.5(EVC2):c.2263C>T (p.Gln755Ter) rs751356206 0.00001
NM_147127.5(EVC2):c.2398C>T (p.Gln800Ter) rs1282621867 0.00001
NM_147127.5(EVC2):c.2476C>T (p.Arg826Ter) rs548681312 0.00001
NM_147127.5(EVC2):c.2484G>A (p.Trp828Ter) rs770918273 0.00001
NM_147127.5(EVC2):c.2539G>T (p.Glu847Ter) rs1715453232 0.00001
NM_147127.5(EVC2):c.2653C>T (p.Arg885Ter) rs146538906 0.00001
NM_147127.5(EVC2):c.3205C>T (p.Gln1069Ter) rs144167138 0.00001
NM_147127.5(EVC2):c.3523_3527dup (p.Gln1179fs) rs1560126707 0.00001
NM_147127.5(EVC2):c.3762del (p.Val1255fs) rs1577093258 0.00001
NM_147127.5(EVC2):c.619G>T (p.Asp207Tyr) rs761707323 0.00001
NM_147127.5(EVC2):c.62dup (p.Ala22fs) rs1430962566 0.00001
NM_147127.5(EVC2):c.644G>A (p.Trp215Ter) rs1720937470 0.00001
NM_147127.5(EVC2):c.707-2A>G rs1302074641 0.00001
NM_147127.5(EVC2):c.745C>T (p.Gln249Ter) rs1236566474 0.00001
NM_147127.5(EVC2):c.832A>T (p.Lys278Ter) rs942590430 0.00001
NM_147127.5(EVC2):c.848T>G (p.Ile283Arg) rs137852926 0.00001
NM_147127.5(EVC2):c.893del (p.His298fs) rs777505711 0.00001
NM_152594.3(SPRED1):c.1044_1045del (p.Arg349fs) rs1366401484 0.00001
NM_152594.3(SPRED1):c.304dup (p.Thr102fs) rs1555391053 0.00001
NM_152594.3(SPRED1):c.46C>T (p.Arg16Ter) rs1057517941 0.00001
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter) rs121434313 0.00001
NM_152594.3(SPRED1):c.751C>T (p.Arg251Ter) rs1172820756 0.00001
NM_153717.3(EVC):c.1021C>T (p.Gln341Ter) rs1729663828 0.00001
NM_153717.3(EVC):c.1324C>T (p.Gln442Ter) rs753152908 0.00001
NM_153717.3(EVC):c.1387dup (p.Thr463fs) rs1317662938 0.00001
NM_153717.3(EVC):c.1489C>T (p.Gln497Ter) rs1460597472 0.00001
NM_153717.3(EVC):c.1777-1G>A rs1262933856 0.00001
NM_153717.3(EVC):c.1777-2A>G rs909612975 0.00001
NM_153717.3(EVC):c.1868T>C (p.Leu623Pro) rs1373632260 0.00001
NM_153717.3(EVC):c.2014C>T (p.Gln672Ter) rs774949132 0.00001
NM_153717.3(EVC):c.2078G>A (p.Trp693Ter) rs1714132239 0.00001
NM_153717.3(EVC):c.2236C>T (p.Gln746Ter) rs1446547358 0.00001
NM_153717.3(EVC):c.2446C>T (p.Gln816Ter) rs374752679 0.00001
NM_153717.3(EVC):c.2821C>T (p.Gln941Ter) rs896581899 0.00001
NM_153717.3(EVC):c.2894+3A>G rs1424976594 0.00001
NM_153717.3(EVC):c.617G>A (p.Ser206Asn) rs1017946059 0.00001
NM_153717.3(EVC):c.758C>G (p.Ser253Ter) rs762795511 0.00001
NM_153717.3(EVC):c.773dup (p.Tyr258Ter) rs748201094 0.00001
NM_153717.3(EVC):c.873dup (p.Glu292Ter) rs527255616 0.00001
NM_153717.3(EVC):c.918C>A (p.Tyr306Ter) rs1560323242 0.00001
NM_153717.3(EVC):c.919T>C (p.Ser307Pro) rs121908426 0.00001
NM_153717.3(EVC):c.928C>G (p.Leu310Val) rs145300726 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp) rs267607555 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.1412G>A (p.Arg471His) rs267607578 0.00001
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) rs57920071 0.00001
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) rs11575937 0.00001
NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) rs57318642 0.00001
NM_170707.4(LMNA):c.475G>T (p.Glu159Ter) rs267607622 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_170707.4(LMNA):c.640-10A>G rs80356807 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter) rs60682848 0.00001
NM_170707.4(LMNA):c.768G>A (p.Val256=) rs794728593 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_174934.4(SCN4B):c.535C>T (p.Leu179Phe) rs121434386 0.00001
NM_181486.4(TBX5):c.710G>A (p.Arg237Gln) rs104894378 0.00001
NM_181784.3(SPRED2):c.187C>T (p.Arg63Ter) rs780902942 0.00001
NM_182961.4(SYNE1):c.13258C>T (p.Arg4420Ter) rs752224921 0.00001
NM_182961.4(SYNE1):c.14500C>T (p.Arg4834Ter) rs766129413 0.00001
NM_182961.4(SYNE1):c.17648C>A (p.Ser5883Ter) rs1300885934 0.00001
NM_182961.4(SYNE1):c.19564C>T (p.Gln6522Ter) rs781655232 0.00001
NM_182961.4(SYNE1):c.20263C>T (p.Arg6755Ter) rs780451185 0.00001
NM_182961.4(SYNE1):c.22734G>A (p.Trp7578Ter) rs780634258 0.00001
NM_182961.4(SYNE1):c.24139C>T (p.Arg8047Ter) rs1174316105 0.00001
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter) rs797046025 0.00001
NM_182961.4(SYNE1):c.4561C>T (p.Arg1521Ter) rs771760718 0.00001
NM_182961.4(SYNE1):c.661C>T (p.Arg221Ter) rs750266004 0.00001
NM_194318.4(B3GLCT):c.459+1G>A rs767361165 0.00001
NM_198282.4(STING1):c.841C>T (p.Arg281Trp) rs750077345 0.00001
NM_207163.3(LMOD2):c.1537C>T (p.Arg513Ter) rs201276725 0.00001
46;XX;ins(2;9)(q24.3;p22.1p24.3)dn
46;XX;ins(5;6)(p13;p24p25)dn
46;XX;t(19;21)(q13.3;q22.3)dn
46;XY;inv(6)(p22q13)dn
46;XY;t(1;5)(p35.3;q31.3)dn
46;XY;t(5;7)(q35;q33)dn
46;XY;t(7;13)(p15.3;q14.1)dn
46;XY;t(9;11)(q34;p11.2)dn
46;XY;t(9;16)(p24;q22)dn
A103V
BGN, 21-KB DEL (SCV000266570)
CITED2, 27-BP INS, NT534
COL3A1, GLY373ARG
ELN, 100-KB DEL
FGFR3, FGFR3/IGH FUSION
GRCh37/hg19 10q11.22-11.23(chr10:46576515-51680164)
GRCh37/hg19 10q25.2(chr10:112516278-112591134)
GRCh37/hg19 11p15.5(chr11:1621232-2228572)
GRCh37/hg19 11p15.5(chr11:268586-748873)
GRCh37/hg19 12q24.21(chr12:114791609-114793234)
GRCh37/hg19 12q24.21(chr12:116446308-116638445)
GRCh37/hg19 12q24.21(chr12:116622732-116685976)
GRCh37/hg19 12q24.21(chr12:116673140-116676995)x1
GRCh37/hg19 13q12.12(chr13:23519916-24941516)x1
GRCh37/hg19 15q11.2(chr15:22765628-23300287)
GRCh37/hg19 15q21.1(chr15:48703187-48937906)
GRCh37/hg19 15q21.1(chr15:48707733-48758055)
GRCh37/hg19 15q21.1(chr15:48902925-48937906)
GRCh37/hg19 15q22.31-22.33(chr15:66825594-67400490)
GRCh37/hg19 16p11.2(chr16:28615644-29042118)
GRCh37/hg19 16p13.11(chr16:16248464-16259810)
GRCh37/hg19 16p13.11(chr16:16248791-16260443)
GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)
GRCh37/hg19 1p36.22(chr1:12019879-12028775)
GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)
GRCh37/hg19 1q21.1-21.2(chr1:145792051-148001265)
GRCh37/hg19 1q21.2(chr1:147245049-147246661)
GRCh37/hg19 1q43(chr1:237413038-237540797)
GRCh37/hg19 20p12.2(chr20:10124855-11479105)
GRCh37/hg19 22p13(chr22:135350-150557)x1
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1
GRCh37/hg19 22q11.21(chr22:18644790-21798907)
GRCh37/hg19 22q11.21(chr22:18644790-21800471)
GRCh37/hg19 22q11.21(chr22:18645353-21800797)
GRCh37/hg19 22q11.21(chr22:18648866-21798907)
GRCh37/hg19 22q11.21(chr22:18660135-21737597)x1
GRCh37/hg19 22q11.21(chr22:18661724-21505417)x1
GRCh37/hg19 22q11.21(chr22:18892575-21460220)
GRCh37/hg19 22q11.21(chr22:18893344-21650280)
GRCh37/hg19 22q11.21(chr22:18893838-20307561)x1
GRCh37/hg19 22q11.21(chr22:18893838-20508931)x3
GRCh37/hg19 22q11.21(chr22:18893838-21416074)x3
GRCh37/hg19 22q11.21(chr22:18900755-21800277)
GRCh37/hg19 22q11.21(chr22:18901004-21408430)
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1
GRCh37/hg19 22q11.21(chr22:18912403-21431174)
GRCh37/hg19 22q11.21(chr22:18912870-21431174)
GRCh37/hg19 22q11.21(chr22:18916842-21798907)
GRCh37/hg19 22q11.21(chr22:18918741-20311922)
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1
GRCh37/hg19 22q11.21(chr22:20609932-21576553)x1
GRCh37/hg19 22q11.21-11.23(chr22:21797384-23630313)
GRCh37/hg19 22q11.22-11.23(chr22:22971867-23643138)
GRCh37/hg19 5q34-35.2(chr5:166421173-173324843)x1
GRCh37/hg19 8p23.1(chr8:8403375-11805960)
GRCh37/hg19 8p23.3-23.1(chr8:194617-7787444)
GRCh37/hg19 8q12.1-12.3(chr8:61121294-63502403)x1
GRCh37/hg19 8q24.3(chr8:144879444-145199846)
GRCh37/hg19 9q34.11(chr9:130581787-130582459)
GRCh37/hg19 9q34.3(chr9:139284464-141018984)
GRCh37/hg19 9q34.3(chr9:139315643-139465759)x1
GRCh37/hg19 Xp11.23(chrX:47039376-47040521)
GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000)
GRCh37/hg19 Xq28(chrX:153575976-153586768)
GRCh37/hg19 Xq28(chrX:153588672-153609996)
GRCh37/hg19 Xq28(chrX:154305031-154307464)
GRCh38/hg38 13q12.12(chr13:23315907-23322480)x0
GRCh38/hg38 13q12.12(chr13:23320540-23320858)x0
GRCh38/hg38 17q12(chr17:36138501-37924067)
GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1
GRCh38/hg38 2q31.2(chr2:178553579-178637393)x1
GRCh38/hg38 2q35(chr2:219420345-219431647)x1
GRCh38/hg38 Xq28(chrX:154375606-154392000)x0
JAG1, 1329, T-G, +2
KCNQ1, IVS1
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NC_000001.10:g.(?_218520044)_(218607810_?)del
NC_000001.10:g.(?_218520044)_(218614704_?)del
NC_000001.11:g.(?_218344334)_(218445619_?)del
NC_000001.11:g.(?_237330868)_(237330992_?)del
NC_000002.11:g.(?_189839196)_(189839314_?)dup
NC_000002.11:g.(?_189839206)_(189950508_?)del
NC_000002.11:g.(?_189839216)_(189839314_?)del
NC_000002.11:g.(?_189839216)_(190044330_?)del
NC_000002.11:g.(?_189856193)_(189856974_?)del
NC_000002.11:g.(?_189860841)_(189861232_?)del
NC_000002.11:g.(?_202566574)_(203424669_?)del
NC_000002.11:g.(?_203241529)_(203242283_?)del
NC_000002.11:g.(?_203329512)_(203332432_?)del
NC_000002.11:g.(?_203329522)_(203379712_?)del
NC_000002.11:g.(?_203332222)_(203332432_?)del
NC_000002.11:g.(?_203378422)_(203379722_?)del
NC_000002.11:g.(?_203378422)_(203384944_?)del
NC_000002.11:g.(?_203378432)_(203379712_?)del
NC_000002.11:g.(?_203384790)_(203421274_?)del
NC_000002.11:g.(?_203407024)_(203407180_?)del
NC_000002.11:g.(?_219135239)_(220290732_?)del
NC_000002.11:g.(?_220283185)_(220290712_?)del
NC_000002.11:g.(?_231033820)_(231086456_?)del
NC_000002.11:g.(?_231033840)_(231081642_?)del
NC_000002.11:g.(?_231042234)_(231042416_?)del
NC_000002.11:g.(?_26414109)_(26415303_?)del
NC_000002.11:g.(?_26414109)_(26462021_?)del
NC_000002.11:g.(?_26414119)_(26462031_?)del
NC_000002.11:g.(?_26416426)_(26418121_?)del
NC_000002.11:g.(?_26416436)_(26418111_?)del
NC_000002.11:g.(?_26467378)_(26467464_?)del
NC_000002.12:g.(?_188974470)_(189580480_?)del
NC_000002.12:g.(?_188974480)_(189580648_?)del
NC_000002.12:g.(?_202376327_202567749_?)del
NC_000002.12:g.(?_202467499)_(202514999_?)del
NC_000002.12:g.(?_202467509)_(202467699_?)del
NC_000002.12:g.(?_202513699)_(202530974_?)del
NC_000002.12:g.(?_202513699)_(202542467_?)del
NC_000002.12:g.(?_202513709)_(202520211_?)del
NC_000002.12:g.(?_202514864)_(202514989_?)del
NC_000002.12:g.(?_202530784)_(202542457_?)del
NC_000002.12:g.(?_219418453)_(219426000_?)del
NC_000002.12:g.(?_230176645)_(230177700_?)del
NC_000002.12:g.(?_26236845)_(26239153_?)del
NC_000002.12:g.202249539_202474756del225218
NC_000002.12:g.202369396_202377723del
NC_000002.12:g.202373247_202381017del
NC_000002.12:g.26201318_26201321del
NC_000003.11:g.(?_123003455)_(123512688_?)del
NC_000003.11:g.(?_123332952)_(123386054_?)del
NC_000003.11:g.(?_127771396)_(128205874_?)del
NC_000003.11:g.(?_128199862)_(128200787_?)del
NC_000003.11:g.(?_128199862)_(128205874_?)del
NC_000003.11:g.(?_38591802)_(38674808_?)del
NC_000003.11:g.(?_38606513)_(38627513_?)del
NC_000003.11:g.(?_38616768)_(38649725_?)del
NC_000003.11:g.(?_38627162)_(38627552_?)del
NC_000003.11:g.(?_38647422)_(38648321_?)del
NC_000003.11:g.(?_38655228)_(38663986_?)del
NC_000003.11:g.(?_38671792)_(38674808_?)del
NC_000003.11:g.(?_38674520)_(38674804_?)del
NC_000003.11:g.(?_48507870)_(50340407_?)del
NC_000003.12:g.(?_128479422)_(128487076_?)del
NC_000003.12:g.(?_128480999)_(128912627_?)del
NC_000003.12:g.(?_128486793)_(128487041_?)del
NC_000003.12:g.(?_37452365)_(38950372_?)del
NC_000003.12:g.(?_38550301)_(38794030_?)del
NC_000003.12:g.(?_38613743)_(38622489_?)del
NC_000003.12:g.(?_38633035)_(38633359_?)del
NC_000003.12:g.(?_8733867)_(8745877_?)del
NC_000004.11:g.(?_159593534)_(159629689_?)del
NC_000004.11:g.(?_159606119)_(159616730_?)del
NC_000004.11:g.(?_159611480)_(159620302_?)del
NC_000004.11:g.(?_159616098)_(159618829_?)del
NC_000004.11:g.(?_2200251)_(5710240_?)del
NC_000004.11:g.(?_52890123)_(52904425_?)del
NC_000004.11:g.(?_52894124)_(52896039_?)del
NC_000004.11:g.(?_52899577)_(52899826_?)del
NC_000004.11:g.(?_5563146)_(5711294_?)del
NC_000004.11:g.(?_5564565)_(5578191_?)del
NC_000004.11:g.(?_5564565)_(5586587_?)del
NC_000004.11:g.(?_5565510)_(5811251_?)del
NC_000004.11:g.(?_5576402)_(5576509_?)del
NC_000004.11:g.(?_5617139)_(5812774_?)del
NC_000004.11:g.(?_5630276)_(5633769_?)del
NC_000004.11:g.(?_5642221)_(5642585_?)del
NC_000004.11:g.(?_5682977)_(5735172_?)del
NC_000004.11:g.(?_5690874)_(5696238_?)del
NC_000004.11:g.(?_5696052)_(5696238_?)del
NC_000004.11:g.(?_5710003)_(5750043_?)del
NC_000004.11:g.(?_5711924)_(5817031_?)del
NC_000004.11:g.(?_5749725)_(5755670_?)del
NC_000004.11:g.(?_5754553)_(5755670_?)del
NC_000004.11:g.(?_5754553)_(5758099_?)del
NC_000004.11:g.(?_5754553)_(5785501_?)del
NC_000004.11:g.(?_5785269)_(5812774_?)del
NC_000004.11:g.(?_5798739)_(5798969_?)del
NC_000004.11:g.(?_5803667)_(5806578_?)del
NC_000004.11:g.(?_5809918)_(5811348_?)del
NC_000004.12:g.(?_52023947)_(52038269_?)del
NC_000004.12:g.(?_52033421)_(52033650_?)del
NC_000004.12:g.(?_52038207)_(52038279_?)del
NC_000004.12:g.(?_5562838)_(5758135_?)del
NC_000004.12:g.(?_5562848)_(5565369_?)del
NC_000004.12:g.(?_5568434)_(5568650_?)del
NC_000004.12:g.(?_5689147)_(5689353_?)del
NC_000004.12:g.(?_5729297)_(5758135_?)del
NC_000004.12:g.(?_5797002)_(5797252_?)del
NC_000004.12:g.5719249_5719252del
NC_000004.12:g.5729307del
NC_000005.10:g.(?_156329567)_(156344687_?)del
NC_000005.10:g.(?_156757561)_(156759410_?)del
NC_000005.10:g.(?_173232273)_(173245300_?)del
NC_000005.10:g.(?_173232549)_(173245300_?)del
NC_000005.10:g.(?_177135084)_(177295479_?)del
NC_000005.10:g.(?_177135094)_(177295469_?)del
NC_000005.10:g.(?_177235801)_(177239885_?)del
NC_000005.10:g.(?_177280545)_(177283948_?)del
NC_000005.10:g.(?_177288799)_(177288945_?)del
NC_000005.10:g.(?_87268432)_(87353255_?)del
NC_000005.10:g.(?_87268442)_(87353245_?)del
NC_000005.9:g.(?_155338082)_(156186411_?)del
NC_000005.9:g.(?_155756587)_(156074566_?)del
NC_000005.9:g.(?_155756587)_(156184735_?)del
NC_000005.9:g.(?_155935601)_(156074556_?)del
NC_000005.9:g.(?_156074454)_(156074566_?)del
NC_000005.9:g.(?_156184572)_(156184735_?)del
NC_000005.9:g.(?_172089144)_(172774583_?)del
NC_000005.9:g.(?_172657631)_(172661899_?)del
NC_000005.9:g.(?_172659748)_(172666091_?)del
NC_000005.9:g.(?_86564269)_(86564827_?)del
NC_000005.9:g.(?_86564269)_(86659341_?)del
NC_000005.9:g.(?_86564269)_(86686700_?)del
NC_000005.9:g.(?_86633771)_(86659341_?)del
NC_000006.11:g.(?_118880085)_(118880243_?)del
NC_000006.11:g.(?_123539746)_(123957920_?)del
NC_000006.11:g.(?_133782232)_(133783922_?)del
NC_000006.11:g.(?_152485278)_(152485480_?)del
NC_000006.11:g.(?_7542149)_(7542338_?)del
NC_000006.11:g.(?_7542149)_(7586111_?)del
NC_000006.11:g.(?_7565582)_(7569583_?)del
NC_000006.11:g.(?_7567563)_(7584301_?)del
NC_000006.11:g.(?_7582855)_(7586131_?)del
NC_000006.11:g.(?_7582865)_(7586121_?)del
NC_000006.11:g.(?_7583161)_(7587903_?)del
NC_000006.12:g.(?_118548061)_(118559090_?)del
NC_000006.12:g.(?_133525015)_(133528805_?)del
NC_000006.12:g.(?_152122416)_(153426916_?)del
NC_000006.12:g.(?_7541896)_(7585898_?)del
NC_000006.12:g.(?_7541906)_(7585888_?)del
NC_000006.12:g.(?_7570417)_(7585898_?)del
NC_000006.12:g.(?_7570427)_(7585888_?)del
NC_000006.12:g.123503896TCTGT[1]
NC_000006.12:g.131688637_132215008del
NC_000007.13:g.(?_102937907)_(103629803_?)del
NC_000007.13:g.(?_103389853)_(103474139_?)del
NC_000007.13:g.(?_128469483)_(128500328_?)del
NC_000007.13:g.(?_128470682)_(128498587_?)del
NC_000007.13:g.(?_128470692)_(128498577_?)del
NC_000007.13:g.(?_128475360)_(128478877_?)del
NC_000007.13:g.(?_128480619)_(128486474_?)del
NC_000007.13:g.(?_128487731)_(128488142_?)del
NC_000007.13:g.(?_141255267)_(141301100_?)del
NC_000007.13:g.(?_141292926)_(141293005_?)del
NC_000007.13:g.(?_150066801)_(150759750_?)del
NC_000007.13:g.(?_150642433)_(151573725_?)del
NC_000007.13:g.(?_150642443)_(150645641_?)del
NC_000007.13:g.(?_150642443)_(151385353_?)del
NC_000007.13:g.(?_150642447)_(150656830_?)del
NC_000007.13:g.(?_150642453)_(150649961_?)del
NC_000007.13:g.(?_150642453)_(150675001_?)del
NC_000007.13:g.(?_150644406)_(150644976_?)del
NC_000007.13:g.(?_150653066)_(150655041_?)del
NC_000007.13:g.(?_150654359)_(150657201_?)del
NC_000007.13:g.(?_150654369)_(150656834_?)del
NC_000007.13:g.(?_73150889)_(73604636_?)del
NC_000007.13:g.(?_73442119)_(73484237_?)del
NC_000007.13:g.(?_73442498)_(73483050_?)del
NC_000007.13:g.(?_73442518)_(73449764_?)del
NC_000007.13:g.(?_73442518)_(73483030_?)del
NC_000007.13:g.(?_73461985)_(73483030_?)del
NC_000007.13:g.(?_73471702)_(73483040_?)del
NC_000007.13:g.(?_73482987)_(73484237_?)del
NC_000007.14:g.(74030000_74032000)_(74062117_74062163)del
NC_000007.14:g.(?_128830618)_(128858543_?)del
NC_000007.14:g.(?_128848551)_(128848992_?)del
NC_000007.14:g.(?_150944956)_(150959736_?)del
NC_000007.14:g.(?_150944956)_(150978314_?)del
NC_000007.14:g.(?_150955988)_(150958464_?)del
NC_000007.14:g.(?_150957281)_(150977923_?)del
NC_000007.14:g.(?_150959552)_(150959756_?)del
NC_000007.14:g.(?_150959562)_(150959746_?)del
NC_000007.14:g.(?_150974691)_(150977933_?)del
NC_000007.14:g.(?_74028168)_(74028289_?)del
NC_000007.14:g.(?_74028178)_(74068710_?)del
NC_000007.14:g.(?_74035344)_(74068720_?)del
NC_000007.14:g.(?_74068637)_(74068720_?)del
NC_000007.14:g.128837160del
NC_000007.14:g.128854417_128854448del
NC_000008.10:g.(?_11565822)_(11566457_?)del
NC_000008.11:g.(?_11703278)_(11758495_?)del
NC_000008.11:g.(?_11703278)_(11759996_?)del
NC_000008.11:g.(?_60741413)_(60856908_?)dup
NC_000008.11:g.(?_60741413)_(60865953_?)del
NC_000008.11:g.(?_6499632)_(6563245_?)del
NC_000009.11:g.(?_101867488)_(101867604_?)del
NC_000009.11:g.(?_130577951)_(130581121_?)del
NC_000009.11:g.(?_130577951)_(130582326_?)del
NC_000009.11:g.(?_130577951)_(130700109_?)del
NC_000009.11:g.(?_130578090)_130581774del
NC_000009.11:g.(?_130578196)_(130581131_?)del
NC_000009.11:g.(?_130578196)_(130582336_?)del
NC_000009.11:g.(?_130578196)_(130592116_?)del
NC_000009.11:g.(?_130579418)_(130579492_?)del
NC_000009.11:g.(?_130586563)_(130605544_?)dup
NC_000009.11:g.(?_130586635)_(130592750_?)del
NC_000009.11:g.(?_130587069)_(130592116_?)del
NC_000009.11:g.(?_130605351)_(130616761_?)del
NC_000009.12:g.(?_124481358)_(124505411_?)del
NC_000009.12:g.(?_127815012)_(127854773_?)del
NC_000009.12:g.(?_127815662)_(127820057_?)del
NC_000009.12:g.(?_127815672)_(127854482_?)del
NC_000009.12:g.(?_127815907)_(127854365_?)del
NC_000009.12:g.(?_127815917)_(127854482_?)del
NC_000009.12:g.(?_127819602)_(127820057_?)del
NC_000009.12:g.(?_127819612)_(127820047_?)del
NC_000009.12:g.(?_127819612)_(127829837_?)del
NC_000009.12:g.(?_127819616)_(127820043_?)del
NC_000009.12:g.(?_127819622)_(127820037_?)del
NC_000009.12:g.(?_127824284)_(127854482_?)del
NC_000009.12:g.(?_127824294)_(127824456_?)del
NC_000009.12:g.(?_127825214)_(127826683_?)del
NC_000009.12:g.(?_127829681)_(127829833_?)del
NC_000009.12:g.(?_127843084)_(127843255_?)dup
NC_000009.12:g.(?_127843088)_(127843251_?)del
NC_000009.12:g.(?_127843094)_(127843245_?)del
NC_000009.12:g.(?_127854269)_(127854482_?)del
NC_000009.12:g.(?_127854279)_(127854365_?)del
NC_000009.12:g.(?_127854279)_(127854482_?)del
NC_000009.12:g.(?_99105186)_(99105322_?)del
NC_000009.12:g.(?_99105186)_(99221914_?)del
NC_000009.12:g.127814980_127830815del
NC_000009.12:g.127814982_127820052del
NC_000010.10:g.(?_121411178)_(121437012_?)del
NC_000010.10:g.(?_121411188)_(121411387_?)del
NC_000010.10:g.(?_121435956)_(121436794_?)del
NC_000010.10:g.(?_126086501)_(126086681_?)del
NC_000010.10:g.(?_126089399)_(126089563_?)del
NC_000010.10:g.(?_126093995)_(126100239_?)del
NC_000010.10:g.(?_126097101)_(126097544_?)del
NC_000010.10:g.(?_126097101)_(126100750_?)del
NC_000010.10:g.(?_48413578)_(48416693_?)del
NC_000010.10:g.(?_69918233)_(69926433_?)del
NC_000010.10:g.(?_69961566)_(69961771_?)del
NC_000010.10:g.(?_72183370)_(72201347_?)del
NC_000010.11:g.(124404664_124404669)_(124404736_124405741)del
NC_000010.11:g.(?_119676454)_(119677500_?)del
NC_000010.11:g.119674392_119683124del
NC_000010.11:g.119675031_119678711del
NC_000011.10:g.(2662082_2768843)_(2778038_2847766)del
NC_000011.10:g.(47329894_47331627)_(47335115_47335951)del
NC_000011.10:g.(?_2527908)_(2528038_?)del
NC_000011.10:g.(?_2527918)_(2848935_?)del
NC_000011.10:g.(?_2570608)_(2573006_?)del
NC_000011.10:g.(?_2570628)_(2572986_?)del
NC_000011.10:g.(?_2583415)_(2588874_?)del
NC_000011.10:g.(?_2583425)_(2583555_?)del
NC_000011.10:g.(?_2583425)_(2588864_?)del
NC_000011.10:g.(?_2583435)_(2583545_?)del
NC_000011.10:g.(?_2585212)_(2587692_?)del
NC_000011.10:g.(?_2775954)_(2777038_?)del
NC_000011.10:g.(?_2775960)_(2777032_?)del
NC_000011.10:g.(?_2883979)_(2885755_?)del
NC_000011.10:g.(?_47331845)_(47336011_?)del
NC_000011.10:g.(?_47331851)_(47348561_?)del
NC_000011.10:g.(?_47331851)_(47352667_?)del
NC_000011.10:g.(?_47332546)_(47334030_?)del
NC_000011.10:g.(?_47335857)_(47338759_?)del
NC_000011.10:g.(?_47347406)_(47352667_?)del
NC_000011.10:g.(?_47348566)_(47351515_?)del
NC_000011.10:g.(?_47349774)_(47351505_?)del
NC_000011.10:g.2276821_2491742del
NC_000011.10:g.47335210del rs2142853045
NC_000011.10:g.47336007_47336016del
NC_000011.10:g.47336012del
NC_000011.10:g.47350113del rs771005018
NC_000011.10:g.57597582C>T rs2135304804
NC_000011.10:g.61969097_61969098insGA
NC_000011.8:g.(67967534_67967551)_(67974756_67974774)del
NC_000011.9:g.(?_111779478)_(111782458_?)del
NC_000011.9:g.(?_111779488)_(111780026_?)del
NC_000011.9:g.(?_111779488)_(111782448_?)del
NC_000011.9:g.(?_2466329)_(2466734_?)del
NC_000011.9:g.(?_2466329)_(2869233_?)del
NC_000011.9:g.(?_2591838)_(2610104_?)del
NC_000011.9:g.(?_2591848)_(2592643_?)del
NC_000011.9:g.(?_2591848)_(2683321_?)del
NC_000011.9:g.(?_2604665)_(2610084_?)del
NC_000011.9:g.(?_2606422)_(2608942_?)del
NC_000011.9:g.(?_2683171)_(2683331_?)del
NC_000011.9:g.(?_2683186)_(2683314_?)del
NC_000011.9:g.(?_2790054)_(2799287_?)del
NC_000011.9:g.(?_2797170)_(2798282_?)del
NC_000011.9:g.(?_2799186)_(2799287_?)del
NC_000011.9:g.(?_2905228)_(2906725_?)del
NC_000011.9:g.(?_46880514)_(47470726_?)del
NC_000011.9:g.(?_47353422)_(47356780_?)del
NC_000011.9:g.(?_47353958)_(47355505_?)del
NC_000011.9:g.(?_47353958)_47355505del
NC_000011.9:g.(?_47357408)_(47360250_?)del
NC_000011.9:g.(?_47357408)_(47374198_?)del
NC_000011.9:g.(?_47357416)_(47360310_?)del
NC_000011.9:g.(?_47360865)_(47369466_?)del
NC_000011.9:g.(?_47363401)_47367757del
NC_000011.9:g.(?_47364109)_(47374198_?)del
NC_000011.9:g.(?_47364119)_(47374208_?)del
NC_000011.9:g.(?_47371305)_(47374198_?)del
NC_000011.9:g.(?_68080076)_(68216744_?)del
NC_000012.11:g.(116484299_116497981)_(116681549_116695774)dup
NC_000012.11:g.(?_114793317)_(114841723_?)del
NC_000012.11:g.(?_114793327)_(114793921_?)del
NC_000012.11:g.(?_114793337)_(114837457_?)del
NC_000012.11:g.(?_114803950)_(114804216_?)dup
NC_000012.11:g.(?_114823261)_(114823392_?)del
NC_000012.11:g.(?_114837390)_(114846189_?)del
NC_000012.11:g.(?_116418535)_(116420428_?)del
NC_000012.11:g.(?_116534454)_(116549337_?)del
NC_000012.11:g.(?_32945338)_(32977116_?)del
NC_000012.11:g.(?_32945348)_(32949242_?)del
NC_000012.11:g.(?_32945358)_(32949252_?)del
NC_000012.11:g.(?_32949023)_(32955510_?)del
NC_000012.11:g.(?_32949033)_(32955500_?)del
NC_000012.11:g.(?_33003680)_(33003927_?)del
NC_000012.11:g.(?_33003694)_(33003913_?)del
NC_000012.11:g.(?_33021841)_(33022016_?)del
NC_000012.11:g.(?_33021841)_(33031986_?)del
NC_000012.11:g.(?_33021851)_(33031976_?)del
NC_000012.11:g.(?_33030760)_(33031986_?)del
NC_000012.11:g.(?_33030760)_(33049665_?)del
NC_000012.11:g.(?_52306239)_(52314697_?)del
NC_000012.11:g.(?_52306259)_(52307877_?)del
NC_000012.11:g.(?_52306863)_(52310037_?)del
NC_000012.11:g.(?_52309800)_(52310037_?)del
NC_000012.11:g.(?_52314523)_(52314677_?)del
NC_000012.11:g.114795705_114844082dup
NC_000012.11:g.52308281_52308282insAlu
NC_000012.12:g.(?_110910819)_(110911175_?)del
NC_000012.12:g.(?_114394721)_(114394913_?)del
NC_000012.12:g.(?_114401806)_(114401940_?)del
NC_000012.12:g.(?_114401816)_(114401930_?)del
NC_000012.12:g.(?_115961246)_(116096772_?)del
NC_000012.12:g.(?_32792404)_(32896751_?)del
NC_000012.12:g.(?_32792414)_(32896741_?)del
NC_000012.12:g.(?_32802383)_(32802576_?)del
NC_000012.12:g.(?_32824025)_(32824182_?)del
NC_000012.12:g.(?_32824035)_(32824172_?)del
NC_000012.12:g.(?_32850756)_(32850983_?)del
NC_000012.12:g.(?_32868917)_(32869072_?)del
NC_000012.12:g.(?_32877836)_(32879042_?)del
NC_000012.12:g.(?_32877836)_(32896741_?)del
NC_000012.12:g.(?_32877846)_(32879032_?)del
NC_000012.12:g.(?_51912465)_(51912545_?)del
NC_000012.12:g.(?_51912465)_(51920903_?)del
NC_000012.12:g.(?_51913079)_(51913790_?)del
NC_000012.12:g.(?_51913089)_(51916243_?)del
NC_000012.12:g.(?_51913539)_(51919135_?)del
NC_000012.12:g.(?_51913954)_(51919135_?)del
NC_000012.12:g.(?_51920691)_(51920903_?)del
NC_000012.12:g.(?_51920739)_(51920913_?)del
NC_000012.12:g.(?_51920759)_(51923361_?)del
NC_000013.10:g.(?_23755215)_(23853627_?)del
NC_000013.10:g.(?_23808730)_(23808871_?)del
NC_000013.10:g.(?_23824749)_(23853637_?)del
NC_000013.10:g.(?_23898487)_(24463459_?)del
NC_000013.10:g.(?_23898497)_(23898690_?)del
NC_000013.10:g.(?_31835063)_(31835239_?)del
NC_000013.10:g.(?_37446775)_(37453826_?)del
NC_000013.11:g.(?_23093196)_(23203899_?)del
NC_000013.11:g.(?_23093196)_(23411249_?)del
NC_000013.11:g.(?_23093196)_(23411259_?)del
NC_000013.11:g.(?_23203675)_(23279498_?)del
NC_000013.11:g.(?_23203685)_(23203899_?)del
NC_000013.11:g.(?_23320627)_(23320770_?)del
NC_000014.9:g.(?_75958692)_(75980923_?)del
NC_000015.10:g.(?_38253166)_(39021201_?)del
NC_000015.10:g.(?_38253180)_(38351670_?)del
NC_000015.10:g.(?_38253186)_(38253227_?)del
NC_000015.10:g.(?_38299363)_(38324819_?)del
NC_000015.10:g.(?_38299373)_(38357249_?)del
NC_000015.10:g.(?_48134288)_(48644779_?)del
NC_000015.10:g.(?_48410970)_(48412763_?)del
NC_000015.10:g.(?_48410970)_(48497411_?)del
NC_000015.10:g.(?_48410970)_(48537828_?)del
NC_000015.10:g.(?_48410970)_(48644789_?)del
NC_000015.10:g.(?_48410980)_(48465868_?)del
NC_000015.10:g.(?_48415161)_(48415777_?)del
NC_000015.10:g.(?_48415161)_(48468554_?)del
NC_000015.10:g.(?_48425359)_(48441856_?)del
NC_000015.10:g.(?_48428336)_(48474660_?)del
NC_000015.10:g.(?_48434584)_(48434723_?)del
NC_000015.10:g.(?_48434584)_(48437927_?)del
NC_000015.10:g.(?_48444531)_(48444670_?)del
NC_000015.10:g.(?_48444531)_(48448903_?)del
NC_000015.10:g.(?_48446696)_(48446910_?)del
NC_000015.10:g.(?_48460226)_(48460337_?)del
NC_000015.10:g.(?_48460226)_(48499058_?)del
NC_000015.10:g.(?_48470614)_(48499058_?)del
NC_000015.10:g.(?_48492451)_(48492596_?)del
NC_000015.10:g.(?_48503767)_(48510189_?)del
NC_000015.10:g.(?_48503777)_(48516372_?)del
NC_000015.10:g.(?_48503777)_(48613102_?)del
NC_000015.10:g.(?_48508562)_(48516382_?)del
NC_000015.10:g.(?_48508562)_(48644789_?)del
NC_000015.10:g.(?_48508572)_(48510179_?)del
NC_000015.10:g.(?_48520639)_(48520837_?)del
NC_000015.10:g.(?_48596263)_(48644789_?)del
NC_000015.10:g.(?_48596273)_(48613102_?)del
NC_000015.10:g.(?_48596273)_(48644779_?)del
NC_000015.10:g.(?_48610708)_(48613112_?)del
NC_000015.10:g.(?_48612990)_(48644789_?)del
NC_000015.10:g.(?_48613000)_(48644779_?)del
NC_000015.10:g.(?_48644596)_(48644779_?)del
NC_000015.10:g.(?_66703239)_(67066380_?)del
NC_000015.10:g.(?_66703239)_(67190556_?)del
NC_000015.10:g.(?_66780987)_(67066370_?)del
NC_000015.10:g.(?_67066145)_(67066370_?)del
NC_000015.10:g.(?_67181221)_(67181473_?)del
NC_000015.10:g.(?_67186987)_(67187509_?)del
NC_000015.10:g.(?_67187355)_(67187519_?)del
NC_000015.10:g.(?_76311340)_(76311398_?)del
NC_000015.9:g.(?_38545367)_(38545438_?)del
NC_000015.9:g.(?_38545387)_(38545438_?)del
NC_000015.9:g.(?_38545387)_(38643865_?)del
NC_000015.9:g.(?_38591568)_(38643870_?)del
NC_000015.9:g.(?_38614422)_(38617030_?)del
NC_000015.9:g.(?_48426485)_(48730124_?)del
NC_000015.9:g.(?_48695060)_(48703482_?)del
NC_000015.9:g.(?_48703177)_(48830015_?)del
NC_000015.9:g.(?_48703181)_(48744887_?)del
NC_000015.9:g.(?_48703187)_(48707984_?)del
NC_000015.9:g.(?_48703187)_(48713903_?)del
NC_000015.9:g.(?_48703187)_(48714285_?)del
NC_000015.9:g.(?_48703187)_(48741110_?)del
NC_000015.9:g.(?_48703187)_(48936966_?)del
NC_000015.9:g.(?_48707358)_(48714275_?)del
NC_000015.9:g.(?_48717965)_(48720525_?)del
NC_000015.9:g.(?_48720523)_(48725205_?)del
NC_000015.9:g.(?_48722912)_(48727571_?)del
NC_000015.9:g.(?_48726874)_(48728050_?)del
NC_000015.9:g.(?_48729138)_(48734063_?)del
NC_000015.9:g.(?_48729138)_(48748979_?)del
NC_000015.9:g.(?_48733898)_(48734063_?)del
NC_000015.9:g.(?_48736718)_(48736877_?)del
NC_000015.9:g.(?_48766715)_(48766857_?)del
NC_000015.9:g.(?_48773832)_(48936966_?)del
NC_000015.9:g.(?_48781877)_(48782069_?)del
NC_000015.9:g.(?_48782167)_(48927084_?)del
NC_000015.9:g.(?_48791031)_48829849del
NC_000015.9:g.(?_48791162)_(48791255_?)del
NC_000015.9:g.(?_48791162)_(48830025_?)del
NC_000015.9:g.(?_48791162)_(48936966_?)del
NC_000015.9:g.(?_48795974)_(48830015_?)del
NC_000015.9:g.(?_48802221)_(48936966_?)del
NC_000015.9:g.(?_48805726)_(48808579_?)del
NC_000015.9:g.(?_48805726)_(48813034_?)del
NC_000015.9:g.(?_48805736)_(48936976_?)del
NC_000015.9:g.(?_48812846)_(48905299_?)dup
NC_000015.9:g.(?_48826257)_(49097846_?)del
NC_000015.9:g.(?_48826267)_(48936976_?)del
NC_000015.9:g.(?_48888460)_(48888595_?)del
NC_000015.9:g.(?_48888460)_(48905309_?)del
NC_000015.9:g.(?_48902905)_(48936966_?)del
NC_000015.9:g.(?_48902915)_(48905299_?)del
NC_000015.9:g.(?_48936783)_(48936966_?)del
NC_000015.9:g.(?_67358493)_(67457742_?)del
NC_000015.9:g.(?_67358493)_(67546969_?)del
NC_000015.9:g.(?_67459097)_(67482874_?)del
NC_000015.9:g.(?_67477045)_(67482874_?)del
NC_000015.9:g.(?_67477100)_(67478916_?)del
NC_000015.9:g.(?_76508890)_(76603739_?)del
NC_000015.9:g.(?_76580177)_(76585051_?)del
NC_000015.9:g.48703187_48748959del45773
NC_000015.9:g.48793164_49095744del
NC_000016.10:g.(?_15395898)_(15884205_?)del
NC_000016.10:g.(?_15395898)_(15888585_?)del
NC_000016.10:g.(?_15586717)_(15838252_?)del
NC_000016.10:g.(?_15703971)_(15838272_?)del
NC_000016.10:g.(?_15703981)_(15838262_?)del
NC_000016.10:g.(?_15823235)_(15838272_?)del
NC_000016.9:g.(?_15802668)_(15932109_?)del
NC_000016.9:g.(?_15826401)_(15829455_?)del
NC_000016.9:g.(?_15832402)_(15850391_?)del
NC_000016.9:g.(?_15892497)_(15892564_?)del
NC_000016.9:g.86137629_86287477del
NC_000016.9:g.86144118_86289385del
NC_000016.9:g.86243180_87703229del
NC_000017.10:g.(69472000_?)_(?_69712000)del
NC_000017.10:g.(78082407_78082495)_(78087166_78090766)del
NC_000017.10:g.(78091549_78091991)_(78092157_78092451)del
NC_000017.10:g.(?_48243138)_(48245027_?)del
NC_000017.10:g.(?_48243138)_48245027del
NC_000017.10:g.(?_48243336)_(48246625_?)del
NC_000017.10:g.(?_48243336)_(48253303_?)del
NC_000017.10:g.(?_6589506)_(7128436_?)del
NC_000017.10:g.(?_7123304)_(8193254_?)del
NC_000017.10:g.(?_7124120)_(7128078_?)del
NC_000017.10:g.(?_7126433)_(7126544_?)del
NC_000017.10:g.(?_78082486)_(78087175_?)del
NC_000017.10:g.(?_78084516)_(78084834_?)del
NC_000017.10:g.(?_78085283)_(78092476_?)del
NC_000017.10:g.(?_78090757)_(78092614_?)del
NC_000017.10:g.(?_78091652)_78092189del
NC_000017.10:g.(?_78091972)_(78092176_?)del
NC_000017.10:g.9481617_9489649del
NC_000017.11:g.(?_41771637)_(41771864_?)del
NC_000017.11:g.(?_71475000)_(71611000_?)del
NC_000017.11:g.(?_80104542)_(80105914_?)del
NC_000017.11:g.(?_80108677)_(80113386_?)del
NC_000017.11:g.(?_80109935)_(80113376_?)del
NC_000017.11:g.(?_80118183)_(80118367_?)del
NC_000017.11:g.(?_80118193)_(80118357_?)del
NC_000017.11:g.71412006_71988969delinsTACCTTTTATT
NC_000018.10:g.(?_22168362)_(22172289_?)del
NC_000018.10:g.(?_31070706)_(31070870_?)del
NC_000018.10:g.(?_31092081)_(31101991_?)del
NC_000018.9:g.(?_28654629)_(28673626_?)dup
NC_000018.9:g.(?_28673522)_(28673606_?)del
NC_000018.9:g.(?_28681846)_(28681934_?)del
NC_000018.9:g.(?_29115213)_(29126706_?)del
NC_000018.9:g.(?_29115223)_(29118951_?)del
NC_000019.10:g.(13206442_13207898)_(13214608_13224666)del
NC_000019.10:g.45770205_45770264CAG[(15_23)]CAGCAGCGG[(10_14)]CAG[(260_320)]
NC_000019.10:g.45770205_45770264CAG[(41_59)]CGG[1]CAG[(200_300)]
NC_000019.10:g.45770205_45770264CAG[(53_67)]CAGGCC[(53_67)]CAG[(180_230)]
NC_000019.9:g.(?_51727962)_(51890697_?)del
NC_000019.9:g.46273465GCA[(49_?)]
NC_000020.10:g.(?_10653329)_(10654278_?)del
NC_000020.10:g.(?_45357972)_(45358147_?)del
NC_000020.11:g.(?_10253609)_(10673550_?)del
NC_000020.11:g.(?_46709717)_(46733854_?)del
NC_000020.11:g.10641783dup rs2122597170
NC_000021.7:g.13636378_28138533dup
NC_000021.8:g.(?_35821543)_(35821932_?)del
NC_000022.10:g.(21822774_21914652)_(22922798_23025613)del
NC_000022.10:g.(?_17565982)_(20052185_?)del
NC_000022.10:g.(?_17669209)_(17672720_?)del
NC_000022.10:g.(?_17684433)_(17690567_?)del
NC_000022.10:g.(?_18900668)_(19747220_?)del
NC_000022.10:g.(?_18900668)_(19770565_?)del
NC_000022.10:g.(?_18900688)_(21351637_?)del
NC_000022.10:g.(?_18910310)_(19770565_?)del
NC_000022.10:g.(?_19163623)_(19770565_?)del
NC_000022.10:g.(?_19743226)_(19755855_?)del
NC_000022.10:g.(?_19747167)_(19754390_?)del
NC_000022.10:g.(?_19748454)_19748649del
NC_000022.10:g.(?_21797384)_(23630313_?)del
NC_000022.10:g.21514655_22986816del
NC_000022.10:g.21808950_22963000del1154051
NC_000022.11:g.(?_17188319)_(17188467_?)del
NC_000022.11:g.(?_19722428)_(19975757_?)del
NC_000022.11:g.(?_19755901)_(19759687_?)del
NC_000022.11:g.(?_19755901)_(19766877_?)del
NC_000022.11:g.(?_19755901)_(19783042_?)del
NC_000022.11:g.(?_19755950)_(19759697_?)del
NC_000022.11:g.18948676_21110520del
NC_000023.10:g.(?_135067662)_(136652229_?)del
NC_000023.10:g.(?_135288556)_(135293528_?)del
NC_000023.10:g.(?_152014869)_(155171615_?)del
NC_000023.10:g.(?_152990712)_(153650075_?)del
NC_000023.10:g.(?_153607393)_(153608624_?)del
NC_000023.10:g.(?_153607825)_(153609577_?)del
NC_000023.10:g.(?_153607835)_(153609567_?)del
NC_000023.10:g.(?_153609093)_(153609182_?)del
NC_000023.10:g.(?_153639844)_(153642537_?)del
NC_000023.10:g.(?_153640161)_(153649363_?)del
NC_000023.10:g.(?_153647872)_(153650075_?)del
NC_000023.10:g.(?_154379237)_(154381523_?)del
NC_000023.10:g.(?_28807461)_(33229429_?)dup
NC_000023.10:g.(?_30322696)_(30327480_?)del
NC_000023.10:g.36649710_136649711del100000002insG
NC_000023.11:g.(33020201_33211281)_(33211556_?)del
NC_000023.11:g.(?_30304206_30309390_?)dup
NC_000023.11:g.86041956_86048370inv
NC_000024.10:g.2792795A>G
NC_000024.10:g.2792798G>A
NC_012920.1(MT-ATP6):m.8783G>A rs1603221804
NC_012920.1(MT-ATP6):m.9035T>C rs1603222000
NC_012920.1(MT-CO1):m.5954del rs1569484042
NC_012920.1(MT-CO1):m.6902del rs1569484122
NC_012920.1(MT-CO1):m.6927del rs1569484124
NC_012920.1(MT-CO1):m.6941del rs1569484126
NC_012920.1(MT-CO2):m.7639del rs1569484164
NC_012920.1(MT-CYB):m.16002T>C rs1603225633
NC_012920.1(MT-CYB):m.4296G>A rs1603219393
NC_012920.1(MT-ND5):m.12425del rs1603223730
NC_012920.1(MT-ND5):m.13063G>A rs1603224017
NC_012920.1:m.11778G>A rs199476112
NC_012920.1:m.13051G>A rs1131692063
NC_012920.1:m.13094T>C rs1603224029
NC_012920.1:m.14484T>C rs199476104
NC_012920.1:m.1555A>G rs267606617
NC_012920.1:m.3243A>G rs199474657
NC_012920.1:m.3460G>A rs199476118
NC_012920.1:m.7444G>A rs199474822
NC_012920.1:m.8420_8421insATA rs1569484208
NC_012920.1:m.8751_8752insAAA rs1569484234
NC_012920.1:m.8851T>C rs199476136
NC_012920.1:m.8969G>A rs794726857
NC_012920.1:m.8993T>C rs199476133
NC_012920.1:m.8993T>G rs199476133
NC_012920.1:m.9176T>C rs199476135
NC_012920.1:m.9185T>C rs199476138
NC_012920.1:m.9205_9206del rs199476137
NC_012920.1:m.9237G>A rs1057516064
NC_012920.1:m.9273_9274insATC rs1569484288
NC_012920.1:m.9429_9430insCCC rs1569484299
NC_012920.1:m.9441_9442insTTT rs1569484301
NG_007009.1:g.138884_149300del
NG_007667.1:g.(47337390_47336011)_(47331406_?)del
NG_008805.2:g.(135403_137120)_(206249_208942)del
NG_008935.1:g.(21725_81488)_(328930_337985)del
NG_009091.1(KCNE1):g.[66853A>C;66857T>C] rs281865421
NG_009363.1:g.(161407_170984)_(171122_181389)del
NG_009625.1:g.(13995_19163)_(19384_21774)del
NG_009874.2:g.93620_93621insLINE1invCTAATTGATCTTCT
NG_012232.1:g.702849_702850insinsY13186.2:g.2333_2491
NG_016165.1:g.(170_?)_(?_2014)del
NM_000018.3(ACADVL):c.1375dup rs796051916
NM_000018.3(ACADVL):c.625del rs2071251239
NM_000018.3(ACADVL):c.[194C>T;739A>C]
NM_000018.4(ACADVL):c.1007_1026del (p.Ile336fs) rs1567565643
NM_000018.4(ACADVL):c.100_104dup (p.Arg37fs) rs2142960989
NM_000018.4(ACADVL):c.1013_1016del (p.Asn338fs)
NM_000018.4(ACADVL):c.1039del (p.Ala347fs) rs2071295244
NM_000018.4(ACADVL):c.103_112del (p.Pro35fs) rs1329022268
NM_000018.4(ACADVL):c.103_112dup (p.Arg38fs)
NM_000018.4(ACADVL):c.1043_1065dup (p.Ile356delinsTrpGlnValProTer) rs1555528508
NM_000018.4(ACADVL):c.104del (p.Pro35fs) rs1443151475
NM_000018.4(ACADVL):c.1056_1058delinsA (p.Met352fs) rs2071296591
NM_000018.4(ACADVL):c.1059_1060del (p.Gly354fs) rs1402646371
NM_000018.4(ACADVL):c.105_109dup (p.Arg37fs) rs1555527532
NM_000018.4(ACADVL):c.1062CAT[1] (p.Ile356del) rs754325237
NM_000018.4(ACADVL):c.1077+1G>A rs140989450
NM_000018.4(ACADVL):c.1077+2T>A
NM_000018.4(ACADVL):c.1077+2T>C rs1057516370
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC rs1057516686
NM_000018.4(ACADVL):c.1080_1182+2del rs2142981921
NM_000018.4(ACADVL):c.1093_1094insT (p.Asn365fs) rs2142982040
NM_000018.4(ACADVL):c.1102_1103del (p.Gln368fs) rs1567566228
NM_000018.4(ACADVL):c.1113del (p.Ile373fs) rs1057517416
NM_000018.4(ACADVL):c.1138C>T (p.Gln380Ter) rs781467053
NM_000018.4(ACADVL):c.1138dup (p.Gln380fs) rs2142982293
NM_000018.4(ACADVL):c.1141_1143del (p.Glu381del) rs1057517281
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln) rs118204015
NM_000018.4(ACADVL):c.1145del (p.Lys382fs) rs1281137823
NM_000018.4(ACADVL):c.1151_1154dup (p.Met386fs) rs2142982389
NM_000018.4(ACADVL):c.1155del (p.Met386fs)
NM_000018.4(ACADVL):c.1168C>T (p.Gln390Ter)
NM_000018.4(ACADVL):c.1173T>A (p.Tyr391Ter) rs2071316298
NM_000018.4(ACADVL):c.1182+1G>T
NM_000018.4(ACADVL):c.1186A>G (p.Met396Val) rs2071337130
NM_000018.4(ACADVL):c.1193_1194insGCA (p.Tyr398Ter) rs2071337202
NM_000018.4(ACADVL):c.1194C>A (p.Tyr398Ter) rs1597533847
NM_000018.4(ACADVL):c.1194C>G (p.Tyr398Ter)
NM_000018.4(ACADVL):c.1243GCC[1] (p.Ala416del)
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr) rs118204018
NM_000018.4(ACADVL):c.1251del (p.Ser418fs) rs2142984544
NM_000018.4(ACADVL):c.1253G>A (p.Ser418Asn) rs1555528737
NM_000018.4(ACADVL):c.1269+1G>A rs773401248
NM_000018.4(ACADVL):c.1269+1del rs2071340733
NM_000018.4(ACADVL):c.1280G>A (p.Trp427Ter) rs1057516519
NM_000018.4(ACADVL):c.1283del (p.Lys428fs) rs1555528745
NM_000018.4(ACADVL):c.128del (p.Gly43fs) rs2071123075
NM_000018.4(ACADVL):c.1290dup (p.Asp431fs)
NM_000018.4(ACADVL):c.1292A>G (p.Asp431Gly) rs2142985073
NM_000018.4(ACADVL):c.1294G>T (p.Glu432Ter) rs1597534677
NM_000018.4(ACADVL):c.1309A>G (p.Met437Val) rs2071345754
NM_000018.4(ACADVL):c.1310T>C (p.Met437Thr) rs2071345821
NM_000018.4(ACADVL):c.1316G>C (p.Gly439Ala) rs533055438
NM_000018.4(ACADVL):c.1316del (p.Gly439fs) rs748077880
NM_000018.4(ACADVL):c.1316dup (p.Met440fs) rs748077880
NM_000018.4(ACADVL):c.1317dup (p.Met440fs) rs1567567440
NM_000018.4(ACADVL):c.1318_1319dup (p.Met440fs)
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala) rs2309689
NM_000018.4(ACADVL):c.1328T>C (p.Met443Thr) rs886043236
NM_000018.4(ACADVL):c.1328T>G (p.Met443Arg) rs886043236
NM_000018.4(ACADVL):c.1332+2T>C
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1377del (p.Ile460fs)
NM_000018.4(ACADVL):c.138+2dup rs1555527548
NM_000018.4(ACADVL):c.1389del (p.Thr464fs) rs398123082
NM_000018.4(ACADVL):c.1389dup (p.Thr464fs) rs398123082
NM_000018.4(ACADVL):c.1409del (p.Leu470fs) rs2071356603
NM_000018.4(ACADVL):c.1413T>G (p.Phe471Leu)
NM_000018.4(ACADVL):c.1444_1448del (p.Lys482fs)
NM_000018.4(ACADVL):c.1455dup (p.Gly486fs)
NM_000018.4(ACADVL):c.145_146dup (p.Asp50fs) rs1567560601
NM_000018.4(ACADVL):c.1475dup (p.Asn493fs)
NM_000018.4(ACADVL):c.1490del (p.Asn497fs)
NM_000018.4(ACADVL):c.1497CCT[1] (p.Leu502del) rs762619071
NM_000018.4(ACADVL):c.1508del (p.Gly503fs) rs1214222702
NM_000018.4(ACADVL):c.1520A>T (p.Lys507Ile)
NM_000018.4(ACADVL):c.1522C>T (p.Gln508Ter)
NM_000018.4(ACADVL):c.1532+2T>C rs111851815
NM_000018.4(ACADVL):c.1534_1535del (p.Arg512fs) rs2071371983
NM_000018.4(ACADVL):c.155C>G (p.Ser52Ter) rs2071146837
NM_000018.4(ACADVL):c.1567G>T (p.Gly523Ter)
NM_000018.4(ACADVL):c.1587G>T (p.Leu529Phe) rs2142987900
NM_000018.4(ACADVL):c.1593dup (p.Ser532fs) rs1060499596
NM_000018.4(ACADVL):c.1605+1G>A
NM_000018.4(ACADVL):c.1605+1G>C rs2142988018
NM_000018.4(ACADVL):c.1605+1G>T rs2142988018
NM_000018.4(ACADVL):c.1605+2T>A rs1597537351
NM_000018.4(ACADVL):c.1605+2T>C rs1597537351
NM_000018.4(ACADVL):c.1606-3_1606-2del
NM_000018.4(ACADVL):c.1611_1627dup (p.Phe543fs)
NM_000018.4(ACADVL):c.1613G>C (p.Arg538Pro) rs201350598
NM_000018.4(ACADVL):c.1624C>T (p.Gln542Ter)
NM_000018.4(ACADVL):c.1630_1645del (p.Ala544fs) rs1131691553
NM_000018.4(ACADVL):c.1636del (p.Val546fs)
NM_000018.4(ACADVL):c.1640del (p.Val547fs)
NM_000018.4(ACADVL):c.1652_1653dup (p.Ile552Ter)
NM_000018.4(ACADVL):c.1659del (p.Lys553fs)
NM_000018.4(ACADVL):c.1682_1701del (p.Glu561fs)
NM_000018.4(ACADVL):c.1684_1685del (p.Gln562fs) rs2071393587
NM_000018.4(ACADVL):c.1723dup (p.Leu575fs) rs2071395312
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs) rs2071395559
NM_000018.4(ACADVL):c.1736del (p.Val579fs)
NM_000018.4(ACADVL):c.1738del (p.Val580fs)
NM_000018.4(ACADVL):c.1739_1751del (p.Val580fs) rs2142990005
NM_000018.4(ACADVL):c.1752-1G>A rs2142990593
NM_000018.4(ACADVL):c.1752-3_1755del rs2071401309
NM_000018.4(ACADVL):c.1757C>G (p.Ser586Ter)
NM_000018.4(ACADVL):c.175_182del (p.Ala59fs)
NM_000018.4(ACADVL):c.1770_1773del (p.Ser590fs) rs1555529048
NM_000018.4(ACADVL):c.1806_1807del (p.Leu602_Cys603insTer) rs796051917
NM_000018.4(ACADVL):c.1808del (p.Cys603fs) rs2142990894
NM_000018.4(ACADVL):c.1818G>A (p.Trp606Ter) rs2071404265
NM_000018.4(ACADVL):c.1838G>C (p.Arg613Pro)
NM_000018.4(ACADVL):c.1838_1839delinsAA (p.Arg613Gln)
NM_000018.4(ACADVL):c.1838_1841dup (p.Ile614fs)
NM_000018.4(ACADVL):c.1843C>T (p.Arg615Ter) rs1057520507
NM_000018.4(ACADVL):c.1857dup (p.Ala620fs)
NM_000018.4(ACADVL):c.1878G>A (p.Trp626Ter) rs1555529186
NM_000018.4(ACADVL):c.1882del (p.Gln628fs) rs1597541142
NM_000018.4(ACADVL):c.1891dup (p.Tyr631fs) rs2071412066
NM_000018.4(ACADVL):c.1896dup (p.Asn633fs) rs2071412513
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs) rs1555529204
NM_000018.4(ACADVL):c.1909_1912dup (p.Ser638fs) rs2071413180
NM_000018.4(ACADVL):c.190A>T (p.Lys64Ter) rs2142964399
NM_000018.4(ACADVL):c.192del (p.Lys64fs) rs771055189
NM_000018.4(ACADVL):c.192dup (p.Pro65fs) rs771055189
NM_000018.4(ACADVL):c.1967G>C (p.Ter656Ser) rs2071416769
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter) rs765432568
NM_000018.4(ACADVL):c.266del (p.Pro89fs) rs771808680
NM_000018.4(ACADVL):c.277+1G>A
NM_000018.4(ACADVL):c.277+2T>C rs1555527745
NM_000018.4(ACADVL):c.277+2T>G rs1555527745
NM_000018.4(ACADVL):c.278-1G>A rs1298004609
NM_000018.4(ACADVL):c.294G>T (p.Gln98His) rs794727695
NM_000018.4(ACADVL):c.294_297del (p.Gln98fs) rs2071168842
NM_000018.4(ACADVL):c.298C>T (p.Gln100Ter)
NM_000018.4(ACADVL):c.298_299del (p.Gln100fs) rs786204713
NM_000018.4(ACADVL):c.303del (p.Glu104fs) rs2142967119
NM_000018.4(ACADVL):c.307_323dup (p.Val109fs) rs1597520263
NM_000018.4(ACADVL):c.308_309del (p.Lys103fs) rs1057516979
NM_000018.4(ACADVL):c.313_316del (p.Leu105fs)
NM_000018.4(ACADVL):c.320del (p.Glu107fs)
NM_000018.4(ACADVL):c.335del (p.Phe112fs) rs764028320
NM_000018.4(ACADVL):c.339C>A (p.Phe113Leu) rs750653177
NM_000018.4(ACADVL):c.342+1G>C rs780020193
NM_000018.4(ACADVL):c.343G>T (p.Glu115Ter) rs370146676
NM_000018.4(ACADVL):c.343del rs387906249
NM_000018.4(ACADVL):c.37C>T (p.Gln13Ter) rs63750670
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del) rs387906251
NM_000018.4(ACADVL):c.388del (p.Glu130fs) rs2142969054
NM_000018.4(ACADVL):c.401dup (p.Leu136fs)
NM_000018.4(ACADVL):c.410del (p.Lys137fs)
NM_000018.4(ACADVL):c.419G>A (p.Gly140Glu) rs2071185757
NM_000018.4(ACADVL):c.421dup (p.Ala141fs) rs2071185652
NM_000018.4(ACADVL):c.428_467del (p.Gly143fs) rs758144859
NM_000018.4(ACADVL):c.433C>T (p.Gln145Ter) rs786204738
NM_000018.4(ACADVL):c.436G>C (p.Val146Leu) rs398123089
NM_000018.4(ACADVL):c.437T>G (p.Val146Gly) rs2142969655
NM_000018.4(ACADVL):c.465_466dup (p.Cys156fs) rs2142969858
NM_000018.4(ACADVL):c.480C>G (p.Tyr160Ter) rs371910495
NM_000018.4(ACADVL):c.481G>A (p.Ala161Thr) rs375284481
NM_000018.4(ACADVL):c.483_484del (p.Arg162fs)
NM_000018.4(ACADVL):c.488dup (p.Leu163fs) rs2142974010
NM_000018.4(ACADVL):c.491T>G (p.Val164Gly) rs2071225938
NM_000018.4(ACADVL):c.4C>T (p.Gln2Ter)
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del) rs796051920
NM_000018.4(ACADVL):c.515T>C (p.Leu172Pro) rs1597524963
NM_000018.4(ACADVL):c.532del (p.Leu178fs)
NM_000018.4(ACADVL):c.541dup (p.His181fs) rs1337636757
NM_000018.4(ACADVL):c.544C>T (p.Gln182Ter)
NM_000018.4(ACADVL):c.545dup (p.Ser183fs)
NM_000018.4(ACADVL):c.552C>A (p.Ile184=) rs770961747
NM_000018.4(ACADVL):c.552del (p.Ile184fs) rs1597525249
NM_000018.4(ACADVL):c.562G>A (p.Gly188Ser) rs2071231356
NM_000018.4(ACADVL):c.565_587del (p.Ile189fs) rs1258134795
NM_000018.4(ACADVL):c.58G>T (p.Gly20Ter)
NM_000018.4(ACADVL):c.595G>T (p.Glu199Ter)
NM_000018.4(ACADVL):c.601T>C (p.Tyr201His) rs2071233789
NM_000018.4(ACADVL):c.602A>G (p.Tyr201Cys) rs1597525536
NM_000018.4(ACADVL):c.602_603del (p.Tyr201fs) rs1064796104
NM_000018.4(ACADVL):c.604C>G (p.Leu202Val)
NM_000018.4(ACADVL):c.609del (p.Lys204fs)
NM_000018.4(ACADVL):c.619T>C (p.Ser207Pro) rs768975918
NM_000018.4(ACADVL):c.621_622+9del
NM_000018.4(ACADVL):c.623-1G>A rs1597526782
NM_000018.4(ACADVL):c.626dup (p.Thr210fs) rs2142976531
NM_000018.4(ACADVL):c.632_633del (p.Val211fs) rs1489679976
NM_000018.4(ACADVL):c.635C>T (p.Ala212Val) rs2142976575
NM_000018.4(ACADVL):c.637G>A (p.Ala213Thr) rs140629318
NM_000018.4(ACADVL):c.640_643del (p.Phe214fs) rs2142976616
NM_000018.4(ACADVL):c.642_643del (p.Phe214fs) rs1186576451
NM_000018.4(ACADVL):c.644_647del (p.Phe214_Cys215insTer) rs1057516714
NM_000018.4(ACADVL):c.652G>A (p.Glu218Lys) rs1432183079
NM_000018.4(ACADVL):c.659_672del (p.Ser220fs)
NM_000018.4(ACADVL):c.65C>A (p.Ser22Ter) rs727503788
NM_000018.4(ACADVL):c.664G>C (p.Gly222Arg) rs398123091
NM_000018.4(ACADVL):c.668C>G (p.Ser223Ter) rs2071253904
NM_000018.4(ACADVL):c.686_726del (p.Arg229fs)
NM_000018.4(ACADVL):c.688dup (p.Thr230fs) rs2071255080
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs) rs1555528304
NM_000018.4(ACADVL):c.711_712del (p.Cys237fs) rs2071256607
NM_000018.4(ACADVL):c.716_717del (p.Lys239fs)
NM_000018.4(ACADVL):c.733G>T (p.Gly245Ter)
NM_000018.4(ACADVL):c.739A>T (p.Lys247Ter)
NM_000018.4(ACADVL):c.746G>A (p.Trp249Ter) rs2071258420
NM_000018.4(ACADVL):c.747G>A (p.Trp249Ter) rs141167669
NM_000018.4(ACADVL):c.753-1G>A
NM_000018.4(ACADVL):c.753-2A>G rs398123092
NM_000018.4(ACADVL):c.761G>A (p.Gly254Asp)
NM_000018.4(ACADVL):c.773T>C (p.Ile258Thr) rs1197133430
NM_000018.4(ACADVL):c.776_777insA (p.Phe259fs)
NM_000018.4(ACADVL):c.797_798del (p.Pro266fs) rs2071266269
NM_000018.4(ACADVL):c.799_802del (p.Val267fs) rs761204548
NM_000018.4(ACADVL):c.79_100del (p.Leu27fs) rs2071119862
NM_000018.4(ACADVL):c.800T>G (p.Val267Gly)
NM_000018.4(ACADVL):c.809del (p.Pro270fs) rs1567564499
NM_000018.4(ACADVL):c.826_849del (p.Lys276_Val283del) rs1555528367
NM_000018.4(ACADVL):c.829G>T (p.Glu277Ter)
NM_000018.4(ACADVL):c.829_831del (p.Glu277del) rs796051913
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del) rs769280599
NM_000018.4(ACADVL):c.856_857del (p.Arg286fs) rs2071269046
NM_000018.4(ACADVL):c.864del (p.Phe288fs) rs1555528386
NM_000018.4(ACADVL):c.869del (p.Gly290fs) rs886044671
NM_000018.4(ACADVL):c.869dup (p.Ile291fs) rs886044671
NM_000018.4(ACADVL):c.877del (p.His293fs)
NM_000018.4(ACADVL):c.879-8T>A rs2071286355
NM_000018.4(ACADVL):c.889_891del (p.Glu297del) rs796051914
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del) rs387906252
NM_000018.4(ACADVL):c.898A>G (p.Met300Val) rs1026112888
NM_000018.4(ACADVL):c.904del (p.Ile302fs)
NM_000018.4(ACADVL):c.907_908del (p.Lys303fs)
NM_000018.4(ACADVL):c.911C>T (p.Ala304Val) rs1473375424
NM_000018.4(ACADVL):c.918C>A (p.Asn306Lys) rs2071288883
NM_000018.4(ACADVL):c.926_927del (p.Glu309fs) rs2071289046
NM_000018.4(ACADVL):c.932del (p.Phe311fs) rs764488310
NM_000018.4(ACADVL):c.946C>T (p.Arg316Trp)
NM_000018.4(ACADVL):c.953C>T (p.Pro318Leu) rs201676770
NM_000018.4(ACADVL):c.956C>A (p.Ser319Ter) rs149467828
NM_000018.4(ACADVL):c.959dup (p.Asn321fs)
NM_000018.4(ACADVL):c.965T>C (p.Val322Ala)
NM_000018.4(ACADVL):c.996del (p.Ala333fs) rs1057516843
NM_000018.4(ACADVL):c.996dup (p.Ala333fs) rs1057516843
NM_000018.4(ACADVL):c.997_998insT (p.Ala333fs)
NM_000018.4(ACADVL):c.[1310T>C;869del]
NM_000020.3(ACVRL1):c.1008_1009del (p.Leu337fs)
NM_000020.3(ACVRL1):c.100T>A (p.Cys34Ser)
NM_000020.3(ACVRL1):c.100T>C (p.Cys34Arg)
NM_000020.3(ACVRL1):c.1010del (p.Leu337fs) rs2139074041
NM_000020.3(ACVRL1):c.1015A>T (p.Lys339Ter) rs1940812366
NM_000020.3(ACVRL1):c.101G>A (p.Cys34Tyr)
NM_000020.3(ACVRL1):c.1025T>C (p.Leu342Pro) rs762287966
NM_000020.3(ACVRL1):c.1027_1047del (p.Gln343_Leu349del) rs1592224385
NM_000020.3(ACVRL1):c.1028A>C (p.Gln343Pro) rs1592224402
NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter) rs1226848374
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg) rs1592224412
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) rs28936688
NM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe) rs28936688
NM_000020.3(ACVRL1):c.1032T>A (p.Cys344Ter) rs368437392
NM_000020.3(ACVRL1):c.1035C>A (p.Cys345Ter)
NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs) rs1565594524
NM_000020.3(ACVRL1):c.1041del (p.Asp348fs) rs1940813766
NM_000020.3(ACVRL1):c.1042G>C (p.Asp348His)
NM_000020.3(ACVRL1):c.1042G>T (p.Asp348Tyr) rs1940813954
NM_000020.3(ACVRL1):c.1042del (p.Asp348fs) rs1565594536
NM_000020.3(ACVRL1):c.1043_1048+1dup rs1940814079
NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro) rs765895870
NM_000020.3(ACVRL1):c.1048+1G>A rs2139074368
NM_000020.3(ACVRL1):c.1048+2T>C
NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg) rs1565594547
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) rs1085307415
NM_000020.3(ACVRL1):c.1055del (p.Ala352fs) rs1940830552
NM_000020.3(ACVRL1):c.105del (p.Cys36fs) rs1555152447
NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter) rs2139075900
NM_000020.3(ACVRL1):c.1113_1114insG (p.Thr372fs) rs387906394
NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile) rs1565594920
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) rs28936401
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys) rs1085307416
NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val) rs1555153277
NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg) rs28936399
NM_000020.3(ACVRL1):c.1129G>A (p.Ala377Thr) rs1565594969
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) rs959973779
NM_000020.3(ACVRL1):c.1133C>A (p.Pro378His)
NM_000020.3(ACVRL1):c.1133C>T (p.Pro378Leu)
NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro) rs1085307417
NM_000020.3(ACVRL1):c.1147G>T (p.Glu383Ter) rs148057374
NM_000020.3(ACVRL1):c.1153_1157dup (p.Thr387fs) rs1940834530
NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs) rs2139064475
NM_000020.3(ACVRL1):c.1171G>T (p.Glu391Ter) rs1940836063
NM_000020.3(ACVRL1):c.1189G>A (p.Asp397Asn) rs1940836783
NM_000020.3(ACVRL1):c.1193T>A (p.Ile398Asn) rs121909286
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg) rs1085307418
NM_000020.3(ACVRL1):c.1195T>G (p.Trp399Gly) rs1085307418
NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter) rs121909289
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser) rs121909289
NM_000020.3(ACVRL1):c.1196G>T (p.Trp399Leu) rs121909289
NM_000020.3(ACVRL1):c.1197G>A (p.Trp399Ter) rs1940837338
NM_000020.3(ACVRL1):c.1198G>A (p.Ala400Thr)
NM_000020.3(ACVRL1):c.1198del (p.Ala400fs)
NM_000020.3(ACVRL1):c.1199C>T (p.Ala400Val)
NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser) rs1555153354
NM_000020.3(ACVRL1):c.1215del (p.Trp406fs) rs2139077020
NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter) rs1060503235
NM_000020.3(ACVRL1):c.121T>G (p.Cys41Gly) rs2139064528
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp) rs1565595129
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) rs121909287
NM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro) rs121909284
NM_000020.3(ACVRL1):c.1246+1G>A rs1565595176
NM_000020.3(ACVRL1):c.1246+2T>C rs1555153382
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) rs1592225112
NM_000020.3(ACVRL1):c.1250_1269del (p.Ile417fs) rs1555153796
NM_000020.3(ACVRL1):c.1260del (p.Tyr421fs)
NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr) rs1085307419
NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg) rs1940906429
NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu)
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys) rs771606504
NM_000020.3(ACVRL1):c.1280A>T (p.Asp427Val) rs1085307420
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser) rs2139084154
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs) rs1940731395
NM_000020.3(ACVRL1):c.130_143del (p.Pro44fs) rs2139064592
NM_000020.3(ACVRL1):c.1310A>G (p.Asp437Gly) rs1060503238
NM_000020.3(ACVRL1):c.1315A>T (p.Lys439Ter)
NM_000020.3(ACVRL1):c.131_132insCACA (p.Cys46fs) rs2139064649
NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met) rs1565596498
NM_000020.3(ACVRL1):c.1323_1324dup (p.Val442fs) rs1555153830
NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.3(ACVRL1):c.1325T>C (p.Val442Ala) rs2139084277
NM_000020.3(ACVRL1):c.132delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys46fs)
NM_000020.3(ACVRL1):c.1331_1332dup (p.Asp445fs) rs1565596508
NM_000020.3(ACVRL1):c.1331dup (p.Asp445fs) rs1940908116
NM_000020.3(ACVRL1):c.1336C>T (p.Gln446Ter) rs1064794217
NM_000020.3(ACVRL1):c.1339C>T (p.Gln447Ter) rs2139084336
NM_000020.3(ACVRL1):c.1345C>T (p.Pro449Ser) rs1940908457
NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) rs2139084385
NM_000020.3(ACVRL1):c.1347del (p.Thr450fs) rs1940908396
NM_000020.3(ACVRL1):c.1347dup (p.Thr450fs)
NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu) rs1555153848
NM_000020.3(ACVRL1):c.1377+1G>A rs863223406
NM_000020.3(ACVRL1):c.1377+2T>G rs1555153854
NM_000020.3(ACVRL1):c.1378-216C>G rs111710113
NM_000020.3(ACVRL1):c.1378-2A>G rs2139089146
NM_000020.3(ACVRL1):c.1381dup (p.Leu461fs) rs2139089160
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter) rs1085307422
NM_000020.3(ACVRL1):c.1388del (p.Gly463fs) rs1085307423
NM_000020.3(ACVRL1):c.1390del (p.Gly463_Leu464insTer) rs1085307424
NM_000020.3(ACVRL1):c.1396C>T (p.Gln466Ter)
NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs) rs1555152455
NM_000020.3(ACVRL1):c.139dup (p.Arg47fs) rs1940731944
NM_000020.3(ACVRL1):c.1408dup (p.Glu470fs)
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) rs774389618
NM_000020.3(ACVRL1):c.1411T>C (p.Cys471Arg)
NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter) rs1301762186
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) rs1555154144
NM_000020.3(ACVRL1):c.1416G>A (p.Trp472Ter)
NM_000020.3(ACVRL1):c.1416G>C (p.Trp472Cys) rs1060503243
NM_000020.3(ACVRL1):c.1416G>T (p.Trp472Cys) rs1060503243
NM_000020.3(ACVRL1):c.1419C>A (p.Tyr473Ter) rs1940955656
NM_000020.3(ACVRL1):c.1419C>G (p.Tyr473Ter) rs1940955656
NM_000020.3(ACVRL1):c.1426_1428del (p.Pro476del)
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu) rs1940955941
NM_000020.3(ACVRL1):c.1428del (p.Ser477fs) rs1592228303
NM_000020.3(ACVRL1):c.142G>A (p.Gly48Arg) rs2139064757
NM_000020.3(ACVRL1):c.1433C>A (p.Ala478Asp) rs1085307425
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) rs1057517944
NM_000020.3(ACVRL1):c.1436G>C (p.Arg479Pro) rs1085307426
NM_000020.3(ACVRL1):c.1438C>T (p.Leu480Phe)
NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu) rs267606632
NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro) rs387906392
NM_000020.3(ACVRL1):c.1442C>T (p.Thr481Ile)
NM_000020.3(ACVRL1):c.1445C>A (p.Ala482Glu)
NM_000020.3(ACVRL1):c.1448del (p.Leu483fs) rs1940958854
NM_000020.3(ACVRL1):c.1450C>G (p.Arg484Gly) rs121909288
NM_000020.3(ACVRL1):c.1450delinsTG (p.Arg484fs) rs1085307427
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) rs863223408
NM_000020.3(ACVRL1):c.1451G>C (p.Arg484Pro) rs863223408
NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu) rs863223408
NM_000020.3(ACVRL1):c.145del (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs) rs863223415
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr) rs1085307428
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) rs1085307429
NM_000020.3(ACVRL1):c.150G>C (p.Trp50Cys) rs121909285
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys) rs121909285
NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr) rs863223409
NM_000020.3(ACVRL1):c.183del (p.Arg61fs) rs1060503246
NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter) rs1592221728
NM_000020.3(ACVRL1):c.190del (p.Gln64fs) rs1060503241
NM_000020.3(ACVRL1):c.191dup (p.Glu65fs)
NM_000020.3(ACVRL1):c.193G>T (p.Glu65Ter) rs1427299751
NM_000020.3(ACVRL1):c.193del (p.Glu65fs) rs2139065161
NM_000020.3(ACVRL1):c.199del (p.Arg67fs)
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) rs863223414
NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg) rs2139065261
NM_000020.3(ACVRL1):c.206G>A (p.Cys69Tyr) rs1318118188
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) rs1318118188
NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter) rs56080682
NM_000020.3(ACVRL1):c.223G>T (p.Glu75Ter) rs750720985
NM_000020.3(ACVRL1):c.223del (p.Glu75fs) rs2139065347
NM_000020.3(ACVRL1):c.231C>G (p.Cys77Trp) rs1221689111
NM_000020.3(ACVRL1):c.237del (p.Arg80fs) rs1592221830
NM_000020.3(ACVRL1):c.237dup (p.Arg80fs) rs1592221830
NM_000020.3(ACVRL1):c.259del (p.His87fs) rs1940739463
NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter) rs775754117
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) rs556168617
NM_000020.3(ACVRL1):c.286A>C (p.Asn96His)
NM_000020.3(ACVRL1):c.289_294del (p.His97_Asn98del)
NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.3(ACVRL1):c.303_313+2del
NM_000020.3(ACVRL1):c.313+1G>A rs1555152548
NM_000020.3(ACVRL1):c.313+1G>C
NM_000020.3(ACVRL1):c.313+1G>T rs1555152548
NM_000020.3(ACVRL1):c.320_323dup (p.Pro109fs)
NM_000020.3(ACVRL1):c.329C>A (p.Ser110Ter) rs143872998
NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter) rs1592222308
NM_000020.3(ACVRL1):c.336del (p.Gln112fs) rs1940750523
NM_000020.3(ACVRL1):c.352C>T (p.Gln118Ter) rs1940751311
NM_000020.3(ACVRL1):c.353_360dup (p.Leu121fs)
NM_000020.3(ACVRL1):c.362_374del (p.Leu121fs) rs2139067065
NM_000020.3(ACVRL1):c.375del (p.Val126fs) rs1940751760
NM_000020.3(ACVRL1):c.375dup (p.Val126fs) rs1940751760
NM_000020.3(ACVRL1):c.376del (p.Val126fs)
NM_000020.3(ACVRL1):c.377dup (p.Leu127fs) rs2139067187
NM_000020.3(ACVRL1):c.37del (p.Leu13fs) rs1085307404
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) rs863223416
NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs) rs2139067412
NM_000020.3(ACVRL1):c.41dup (p.Met15fs) rs1060503236
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) rs758683062
NM_000020.3(ACVRL1):c.430del (p.Arg144fs)
NM_000020.3(ACVRL1):c.435del (p.Arg146fs) rs2139067539
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter) rs1940756257
NM_000020.3(ACVRL1):c.500_518del (p.Ser167fs) rs2139067828
NM_000020.3(ACVRL1):c.505C>T (p.Gln169Ter) rs2139067861
NM_000020.3(ACVRL1):c.50dup (p.Leu17fs) rs2139062776
NM_000020.3(ACVRL1):c.510del (p.Asp171fs) rs2139067888
NM_000020.3(ACVRL1):c.514dup (p.Ser172fs) rs1940757414
NM_000020.3(ACVRL1):c.525+1G>A rs1555152710
NM_000020.3(ACVRL1):c.525+1G>C
NM_000020.3(ACVRL1):c.525+1G>T rs1555152710
NM_000020.3(ACVRL1):c.525+1del rs1060503249
NM_000020.3(ACVRL1):c.525+2T>C rs2139067969
NM_000020.3(ACVRL1):c.525+3A>G
NM_000020.3(ACVRL1):c.526-1G>A rs1565593274
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs) rs1555152774
NM_000020.3(ACVRL1):c.542_545del (p.Asp181fs) rs1555152771
NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter) rs2139068677
NM_000020.3(ACVRL1):c.573del (p.Phe192fs) rs1555152786
NM_000020.3(ACVRL1):c.583C>T (p.Gln195Ter)
NM_000020.3(ACVRL1):c.58C>T (p.Gln20Ter) rs1555152345
NM_000020.3(ACVRL1):c.593T>A (p.Val198Glu) rs886043123
NM_000020.3(ACVRL1):c.598C>G (p.Arg200Gly) rs999380946
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) rs1318446539
NM_000020.3(ACVRL1):c.602A>G (p.Gln201Arg) rs1085307407
NM_000020.3(ACVRL1):c.619T>G (p.Cys207Gly)
NM_000020.3(ACVRL1):c.621T>A (p.Cys207Ter) rs1940766819
NM_000020.3(ACVRL1):c.623_624del (p.Val208fs) rs1060503240
NM_000020.3(ACVRL1):c.625+1G>A
NM_000020.3(ACVRL1):c.625+1G>T rs1940767034
NM_000020.3(ACVRL1):c.625+1del rs1555152815
NM_000020.3(ACVRL1):c.625+2T>C rs1592223028
NM_000020.3(ACVRL1):c.626-1G>A rs2139070294
NM_000020.3(ACVRL1):c.626-2A>G rs1940780382
NM_000020.3(ACVRL1):c.631G>A (p.Gly211Ser)
NM_000020.3(ACVRL1):c.631G>T (p.Gly211Cys) rs1940780439
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) rs28936687
NM_000020.3(ACVRL1):c.641del (p.Gly214fs) rs1555152909
NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter) rs1592223399
NM_000020.3(ACVRL1):c.651del (p.Trp217fs)
NM_000020.3(ACVRL1):c.653_654inv (p.Arg218Pro)
NM_000020.3(ACVRL1):c.655G>C (p.Gly219Arg) rs1592223416
NM_000020.3(ACVRL1):c.663G>A (p.Trp221Ter) rs2139070482
NM_000020.3(ACVRL1):c.670G>A (p.Glu224Lys)
NM_000020.3(ACVRL1):c.670G>T (p.Glu224Ter)
NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs) rs1940782251
NM_000020.3(ACVRL1):c.673del (p.Ser225fs)
NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu) rs1565593639
NM_000020.3(ACVRL1):c.685A>G (p.Lys229Glu) rs1592223468
NM_000020.3(ACVRL1):c.68del (p.Pro23fs) rs2139064139
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) rs387906391
NM_000020.3(ACVRL1):c.698C>G (p.Ser233Trp) rs762773076
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) rs762773076
NM_000020.3(ACVRL1):c.698_699dup (p.Asp235fs) rs2139070714
NM_000020.3(ACVRL1):c.703del (p.Asp235fs)
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) rs1592223490
NM_000020.3(ACVRL1):c.711_713delinsAG (p.Ser238fs) rs1555152935
NM_000020.3(ACVRL1):c.714del (p.Trp239fs) rs1940783683
NM_000020.3(ACVRL1):c.716G>A (p.Trp239Ter)
NM_000020.3(ACVRL1):c.717G>A (p.Trp239Ter)
NM_000020.3(ACVRL1):c.724G>T (p.Glu242Ter) rs1940784067
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs) rs1592221459
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs) rs1555152955
NM_000020.3(ACVRL1):c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys25_Pro26delinsSerCysTer)
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) rs387906393
NM_000020.3(ACVRL1):c.772+1G>C rs1940785759
NM_000020.3(ACVRL1):c.772+5G>A
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000020.3(ACVRL1):c.787G>A (p.Asp263Asn) rs2139072643
NM_000020.3(ACVRL1):c.788A>G (p.Asp263Gly) rs1085307408
NM_000020.3(ACVRL1):c.789del (p.Asp263fs)
NM_000020.3(ACVRL1):c.78_81del (p.Ser27fs) rs2139064218
NM_000020.3(ACVRL1):c.806C>A (p.Ser269Ter)
NM_000020.3(ACVRL1):c.807_810del (p.Ser270fs) rs2139072772
NM_000020.3(ACVRL1):c.808_820dup (p.Trp274Ter) rs1555153077
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro) rs1085307409
NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter) rs757645341
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) rs750085854
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg) rs750085854
NM_000020.3(ACVRL1):c.838_842del (p.His280fs)
NM_000020.3(ACVRL1):c.841G>T (p.Glu281Ter) rs779485996
NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs) rs1940804402
NM_000020.3(ACVRL1):c.851_905del (p.Gly283_Ser284insTer)
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000020.3(ACVRL1):c.854T>C (p.Leu285Pro) rs1085307411
NM_000020.3(ACVRL1):c.858C>A (p.Tyr286Ter) rs542810348
NM_000020.3(ACVRL1):c.864dup (p.Leu289fs)
NM_000020.3(ACVRL1):c.866T>C (p.Leu289Pro)
NM_000020.3(ACVRL1):c.868C>T (p.Gln290Ter) rs2139073064
NM_000020.3(ACVRL1):c.86del (p.Gly29fs) rs1940729491
NM_000020.3(ACVRL1):c.871A>T (p.Arg291Ter) rs1057256890
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs) rs1592224087
NM_000020.3(ACVRL1):c.874C>T (p.Gln292Ter) rs1940805354
NM_000020.3(ACVRL1):c.877del (p.Thr293fs)
NM_000020.3(ACVRL1):c.881T>G (p.Leu294Arg) rs2139073155
NM_000020.3(ACVRL1):c.889del (p.His297fs) rs1060503245
NM_000020.3(ACVRL1):c.913_916del (p.Ser305fs)
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) rs1555153126
NM_000020.3(ACVRL1):c.919del (p.Ala307fs)
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter) rs1555153131
NM_000020.3(ACVRL1):c.925G>A (p.Gly309Ser) rs1555153133
NM_000020.3(ACVRL1):c.929_932del (p.Leu310fs) rs1940808154
NM_000020.3(ACVRL1):c.931dup (p.Ala311fs) rs2139073551
NM_000020.3(ACVRL1):c.936C>G (p.His312Gln) rs1085307412
NM_000020.3(ACVRL1):c.938T>G (p.Leu313Arg)
NM_000020.3(ACVRL1):c.940C>T (p.His314Tyr) rs1565594311
NM_000020.3(ACVRL1):c.950T>C (p.Ile317Thr) rs1085307413
NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg) rs1085307414
NM_000020.3(ACVRL1):c.961C>T (p.Gln321Ter) rs2139073732
NM_000020.3(ACVRL1):c.962_963del (p.Gln321fs)
NM_000020.3(ACVRL1):c.967A>G (p.Lys323Glu)
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) rs1940810597
NM_000020.3(ACVRL1):c.980C>A (p.Ala327Asp) rs769850351
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) rs1592224291
NM_000020.3(ACVRL1):c.983A>C (p.His328Pro) rs2139073840
NM_000020.3(ACVRL1):c.986G>A (p.Arg329His) rs863223412
NM_000020.3(ACVRL1):c.988G>T (p.Asp330Tyr)
NM_000020.3(ACVRL1):c.990C>G (p.Asp330Glu)
NM_000020.3(ACVRL1):c.992T>C (p.Phe331Ser) rs1166311240
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile) rs863223413
NM_000021.4(PSEN1):c.488A>G (p.His163Arg) rs63750590
NM_000023.4(SGCA):c.1025_1026del (p.Glu342fs)
NM_000023.4(SGCA):c.1039_1042dup (p.Ala348fs) rs1598277713
NM_000023.4(SGCA):c.1054G>T (p.Glu352Ter) rs763372958
NM_000023.4(SGCA):c.105del (p.Phe36fs) rs2144493323
NM_000023.4(SGCA):c.132_135dup (p.Leu46fs) rs2144493427
NM_000023.4(SGCA):c.168del (p.Ala57fs) rs1555568264
NM_000023.4(SGCA):c.186C>G (p.Tyr62Ter) rs766400853
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
NM_000023.4(SGCA):c.203G>A (p.Gly68Glu) rs2144494148
NM_000023.4(SGCA):c.203del (p.Gly68fs) rs1567739228
NM_000023.4(SGCA):c.218C>G (p.Pro73Arg)
NM_000023.4(SGCA):c.225del (p.Trp75fs)
NM_000023.4(SGCA):c.226C>T (p.Leu76Phe) rs1555568335
NM_000023.4(SGCA):c.229dup (p.Arg77fs)
NM_000023.4(SGCA):c.233_234delinsGA (p.Tyr78Ter) rs1598265248
NM_000023.4(SGCA):c.236_237insA (p.Gln80fs) rs1567739339
NM_000023.4(SGCA):c.238C>T (p.Gln80Ter) rs2144494297
NM_000023.4(SGCA):c.241C>T (p.Arg81Cys) rs398123098
NM_000023.4(SGCA):c.250dup (p.His84fs)
NM_000023.4(SGCA):c.265C>T (p.Leu89Phe) rs773161308
NM_000023.4(SGCA):c.26dup (p.Leu10fs) rs1904771410
NM_000023.4(SGCA):c.292C>G (p.Arg98Gly) rs138945081
NM_000023.4(SGCA):c.293G>C (p.Arg98Pro) rs137852621
NM_000023.4(SGCA):c.29_33del (p.Leu10fs)
NM_000023.4(SGCA):c.308T>C (p.Ile103Thr) rs1161291343
NM_000023.4(SGCA):c.313_319del (p.Val105Profs)
NM_000023.4(SGCA):c.317_318del (p.Thr106fs) rs1567739735
NM_000023.4(SGCA):c.322_325dup (p.Asn109fs) rs1555568518
NM_000023.4(SGCA):c.348_352dup (p.Gln118fs) rs752640127
NM_000023.4(SGCA):c.364C>G (p.Leu122Val) rs1567739857
NM_000023.4(SGCA):c.377dup (p.Asp126fs) rs1905070544
NM_000023.4(SGCA):c.391del (p.Leu131fs) rs144356125
NM_000023.4(SGCA):c.402C>A (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.402C>G (p.Tyr134Ter) rs780264754
NM_000023.4(SGCA):c.403C>T (p.Gln135Ter) rs886043221
NM_000023.4(SGCA):c.408del (p.Glu137fs) rs1905103030
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln) rs372210292
NM_000023.4(SGCA):c.410A>G (p.Glu137Gly) rs397514451
NM_000023.4(SGCA):c.464del (p.Ser155fs) rs1555568775
NM_000023.4(SGCA):c.488del (p.Gly163fs)
NM_000023.4(SGCA):c.488dup (p.Leu164fs) rs763986788
NM_000023.4(SGCA):c.524T>C (p.Val175Ala) rs137852622
NM_000023.4(SGCA):c.585-2A>C rs1555568965
NM_000023.4(SGCA):c.596del (p.Lys199fs)
NM_000023.4(SGCA):c.618_619del (p.Ser207fs)
NM_000023.4(SGCA):c.658_659del (p.Ala220fs) rs1905167458
NM_000023.4(SGCA):c.676C>T (p.Gln226Ter) rs1567741398
NM_000023.4(SGCA):c.70C>T (p.Gln24Ter) rs2144493135
NM_000023.4(SGCA):c.724G>T (p.Val242Phe) rs200166783
NM_000023.4(SGCA):c.747+1G>A rs886043392
NM_000023.4(SGCA):c.754_755del (p.Lys252fs) rs1057517377
NM_000023.4(SGCA):c.770del (p.Pro257fs) rs886043962
NM_000023.4(SGCA):c.790_791dup (p.Gly265fs) rs1905254738
NM_000023.4(SGCA):c.801dup (p.Ile268fs) rs1905256830
NM_000023.4(SGCA):c.828C>A (p.Cys276Ter) rs2144500924
NM_000023.4(SGCA):c.862del (p.Val288fs) rs2144501024
NM_000023.4(SGCA):c.86dup (p.His29fs) rs1904986620
NM_000023.4(SGCA):c.904del (p.Leu302fs) rs2144501172
NM_000023.4(SGCA):c.905T>G (p.Leu302Arg) rs760989961
NM_000023.4(SGCA):c.929_930del (p.Tyr310fs) rs1555569329
NM_000023.4(SGCA):c.92T>C (p.Leu31Pro) rs903823830
NM_000023.4(SGCA):c.957-1G>T rs2144502043
NM_000023.4(SGCA):c.95T>C (p.Val32Ala) rs1017592342
NM_000023.4(SGCA):c.981_982dup (p.Asp328fs) rs796065318
NM_000044.6(AR):c.1462C>T (p.Gln488Ter) rs1929774367
NM_000062.3(SERPING1):c.-22-155G>T rs1945307391
NM_000062.3(SERPING1):c.1012C>T (p.Gln338Ter) rs1565171906
NM_000062.3(SERPING1):c.1019del (p.Thr339_Leu340insTer) rs2135318396
NM_000062.3(SERPING1):c.1029+384A>G rs1945416520
NM_000062.3(SERPING1):c.1036C>T (p.Gln346Ter) rs1590829609
NM_000062.3(SERPING1):c.1051del (p.His351fs) rs2135324476
NM_000062.3(SERPING1):c.106_107del (p.Ser36fs) rs1590822296
NM_000062.3(SERPING1):c.1094dup (p.His365fs) rs2135324565
NM_000062.3(SERPING1):c.1106del (p.Asp369fs) rs1565173309
NM_000062.3(SERPING1):c.1180del (p.Thr394fs) rs1590829763
NM_000062.3(SERPING1):c.1186del (p.Leu395_Leu396insTer) rs2135324746
NM_000062.3(SERPING1):c.1196C>G (p.Pro399Arg)
NM_000062.3(SERPING1):c.1233_1234insTC (p.Ile412fs) rs1945481508
NM_000062.3(SERPING1):c.1247T>A (p.Leu416Ter) rs1565173405
NM_000062.3(SERPING1):c.1249+1G>T rs112565881
NM_000062.3(SERPING1):c.1249+2T>C rs2135324885
NM_000062.3(SERPING1):c.124G>T (p.Glu42Ter) rs778625408
NM_000062.3(SERPING1):c.1264del (p.Ser422fs) rs1554996817
NM_000062.3(SERPING1):c.1268dup (p.Tyr423Ter) rs1554996819
NM_000062.3(SERPING1):c.1269T>A (p.Tyr423Ter) rs750873571
NM_000062.3(SERPING1):c.1306del (p.Leu436fs)
NM_000062.3(SERPING1):c.1342_1349dup (p.Thr450_Glu451insAsnTer) rs1590831385
NM_000062.3(SERPING1):c.1353_1354del (p.Glu451fs) rs1554996833
NM_000062.3(SERPING1):c.1357_1358insTGT (p.Gly453delinsValTrp) rs606231141
NM_000062.3(SERPING1):c.1361T>A (p.Val454Glu) rs121907949
NM_000062.3(SERPING1):c.1372G>A (p.Ala458Thr) rs121907947
NM_000062.3(SERPING1):c.1373C>T (p.Ala458Val) rs1590831432
NM_000062.3(SERPING1):c.1385T>G (p.Ile462Ser) rs763451792
NM_000062.3(SERPING1):c.1396C>A (p.Arg466Ser) rs28940870
NM_000062.3(SERPING1):c.1396C>T (p.Arg466Cys) rs28940870
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His) rs121907948
NM_000062.3(SERPING1):c.1417G>A (p.Val473Met) rs956390201
NM_000062.3(SERPING1):c.1420C>T (p.Gln474Ter) rs1565174105
NM_000062.3(SERPING1):c.1446G>A (p.Trp482Ter) rs1590831545
NM_000062.3(SERPING1):c.1450C>T (p.Gln484Ter) rs2135328243
NM_000062.3(SERPING1):c.1480C>T (p.Arg494Ter) rs922149386
NM_000062.3(SERPING1):c.172_181del (p.Pro58fs) rs2135308147
NM_000062.3(SERPING1):c.195del (p.Leu65fs) rs1945329402
NM_000062.3(SERPING1):c.197dup (p.Thr67fs) rs2135308182
NM_000062.3(SERPING1):c.1A>C (p.Met1Leu) rs1565168898
NM_000062.3(SERPING1):c.1A>G (p.Met1Val) rs1565168898
NM_000062.3(SERPING1):c.229A>T (p.Lys77Ter) rs2135308228
NM_000062.3(SERPING1):c.232del (p.Lys77_Ile78insTer) rs2135308232
NM_000062.3(SERPING1):c.314_317del (p.Pro105fs) rs1945331796
NM_000062.3(SERPING1):c.330_331insC (p.Thr111fs) rs2135308522
NM_000062.3(SERPING1):c.342_345del (p.Thr115fs) rs1565169621
NM_000062.3(SERPING1):c.346C>T (p.Gln116Ter) rs2135308550
NM_000062.3(SERPING1):c.347del (p.Gln116fs) rs1590822588
NM_000062.3(SERPING1):c.377del (p.Pro126fs)
NM_000062.3(SERPING1):c.508del (p.Ser170fs) rs1590822739
NM_000062.3(SERPING1):c.550+1G>T rs2135308859
NM_000062.3(SERPING1):c.550+745_685+308del
NM_000062.3(SERPING1):c.550G>A (p.Gly184Arg) rs281875170
NM_000062.3(SERPING1):c.55A>T (p.Arg19Ter) rs1565169419
NM_000062.3(SERPING1):c.576_583dup (p.Ser195fs) rs1945353409
NM_000062.3(SERPING1):c.586_589del (p.Ile196fs) rs1565170287
NM_000062.3(SERPING1):c.597C>G (p.Tyr199Ter) rs121907951
NM_000062.3(SERPING1):c.600dup (p.Lys201fs) rs1590823884
NM_000062.3(SERPING1):c.615dup (p.Val206fs) rs1554995260
NM_000062.3(SERPING1):c.623dup (p.Ala209fs) rs2135311324
NM_000062.3(SERPING1):c.635dup (p.Phe213fs) rs2135311344
NM_000062.3(SERPING1):c.646delinsTCAGTGTCGTG (p.Lys216delinsSerValSerTer) rs1554995271
NM_000062.3(SERPING1):c.673_675del (p.Phe225del) rs2135311395
NM_000062.3(SERPING1):c.674_675delinsAA (p.Phe225Ter) rs1565170364
NM_000062.3(SERPING1):c.686-1G>A rs1945404833
NM_000062.3(SERPING1):c.733_736dup (p.Ser246fs) rs2135317617
NM_000062.3(SERPING1):c.748_749del (p.Val250fs) rs2135317631
NM_000062.3(SERPING1):c.74del (p.Asn25fs) rs2135307959
NM_000062.3(SERPING1):c.779dup (p.Leu261fs) rs2135317696
NM_000062.3(SERPING1):c.785dup (p.Asn263fs) rs2135317718
NM_000062.3(SERPING1):c.902del (p.Thr301fs) rs1945410259
NM_000062.3(SERPING1):c.908T>C (p.Phe303Ser) rs1590826703
NM_000062.3(SERPING1):c.941_942insTC (p.Phe315fs) rs2135318252
NM_000062.3(SERPING1):c.951dup (p.Ser318fs) rs2135318269
NM_000062.3(SERPING1):c.953C>G (p.Ser318Ter) rs1554995860
NM_000062.3(SERPING1):c.983_984delinsC (p.Lys328fs) rs2135318339
NM_000062.3(SERPING1):c.985A>T (p.Lys329Ter) rs1945411910
NM_000083.3(CLCN1):c.568_569delinsTC (p.Gly190Ser) rs797045032
NM_000088.4(COL1A1):c.1777G>A (p.Gly593Ser) rs66527965
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser) rs66619856
NM_000089.4(COL1A2):c.1127G>T (p.Gly376Val) rs67543427
NM_000089.4(COL1A2):c.1404+1G>C rs67162110
NM_000089.4(COL1A2):c.1937G>T (p.Gly646Val) rs72658150
NM_000089.4(COL1A2):c.293dup (p.Pro98_Arg99insTer) rs797044459
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000089.4(COL1A2):c.3601G>T (p.Glu1201Ter) rs72659343
NM_000089.4(COL1A2):c.540+5G>A rs72656367
NM_000089.4(COL1A2):c.70+717A>G rs72656354
NM_000089.4(COL1A2):c.982G>A (p.Gly328Ser) rs66612022
NM_000090.3(COL3A1):c.1509+224_1510-71delinsNM_000090.3:c.799-118_852+62 (p.Lys503_Gly504insGFDGRNGEKGETGAPGLK)
NM_000090.3(COL3A1):c.1610delG rs587779702
NM_000090.3(COL3A1):c.1763_1769delinsTAAG (p.Gly588_Pro590delinsValSer) rs587779510
NM_000090.3(COL3A1):c.2608-?_3255+?del (p.Gly870_Pro1085del)
NM_000090.3(COL3A1):c.3257_3266delGTCCTCAAGG
NM_000090.3(COL3A1):c.[1786C>T;3851G>A]
NM_000090.3(COL3A1):c.[=/3426_3452del];[=/3440_3466del]
NM_000090.4(COL3A1):c.1033G>A (p.Gly345Arg) rs587779419
NM_000090.4(COL3A1):c.1052G>T (p.Gly351Val) rs587779498
NM_000090.4(COL3A1):c.1056dup (p.Val353fs)
NM_000090.4(COL3A1):c.1069_1070insACCCTGCAG (p.Ala356_Gly357insAspProAla) rs587779579
NM_000090.4(COL3A1):c.1087G>A (p.Gly363Ser) rs587779499
NM_000090.4(COL3A1):c.1096G>A (p.Gly366Arg) rs587779696
NM_000090.4(COL3A1):c.1100_1117del (p.Gln367_Gly372del) rs587779525
NM_000090.4(COL3A1):c.1103GAG[1] (p.Gly369del) rs587779686
NM_000090.4(COL3A1):c.1115G>T (p.Gly372Val) rs587779547
NM_000090.4(COL3A1):c.1124G>A (p.Gly375Glu) rs587779569
NM_000090.4(COL3A1):c.1142G>A (p.Gly381Asp) rs587779544
NM_000090.4(COL3A1):c.1149+1G>A rs587779443
NM_000090.4(COL3A1):c.1149+1G>T rs587779443
NM_000090.4(COL3A1):c.1149+5G>A rs587779538
NM_000090.4(COL3A1):c.1150-1G>C rs587779520
NM_000090.4(COL3A1):c.1150-1_1166delinsCCGTCCTGGGCCCTGGTGGTATACAAACCTGGTATACCACC rs587779612
NM_000090.4(COL3A1):c.117T>G (p.Tyr39Ter)
NM_000090.4(COL3A1):c.1189_1194+23del rs587779430
NM_000090.4(COL3A1):c.1194+1G>A rs587779459
NM_000090.4(COL3A1):c.1194+1G>C rs587779459
NM_000090.4(COL3A1):c.1231G>C (p.Gly411Arg) rs587779534
NM_000090.4(COL3A1):c.1240G>T (p.Gly414Cys) rs587779485
NM_000090.4(COL3A1):c.1249G>A (p.Gly417Arg) rs587779637
NM_000090.4(COL3A1):c.1258G>A (p.Gly420Ser) rs587779692
NM_000090.4(COL3A1):c.1267G>A (p.Gly423Ser) rs587779631
NM_000090.4(COL3A1):c.1268G>A (p.Gly423Asp) rs587779586
NM_000090.4(COL3A1):c.1282C>T (p.Arg428Ter) rs1576465155
NM_000090.4(COL3A1):c.1294-3T>G rs587779496
NM_000090.4(COL3A1):c.1304G>A (p.Gly435Asp)
NM_000090.4(COL3A1):c.1330G>A (p.Gly444Arg) rs587779489
NM_000090.4(COL3A1):c.1330G>C (p.Gly444Arg) rs587779489
NM_000090.4(COL3A1):c.1347+1G>A rs397509370
NM_000090.4(COL3A1):c.1347+1G>T rs397509370
NM_000090.4(COL3A1):c.1347+3A>C rs587779453
NM_000090.4(COL3A1):c.1347+5G>C rs587779721
NM_000090.4(COL3A1):c.1348-2A>G
NM_000090.4(COL3A1):c.134G>A (p.Trp45Ter) rs1559052609
NM_000090.4(COL3A1):c.1351G>A (p.Glu451Lys) rs1559056438
NM_000090.4(COL3A1):c.1358G>A (p.Gly453Asp) rs587779621
NM_000090.4(COL3A1):c.1384G>A (p.Gly462Ser) rs587779633
NM_000090.4(COL3A1):c.1410del (p.Gly471fs) rs587779665
NM_000090.4(COL3A1):c.1442del (p.Ala481fs) rs1688268302
NM_000090.4(COL3A1):c.1456-10T>G rs587779701
NM_000090.4(COL3A1):c.1456-13_1499del rs1553508025
NM_000090.4(COL3A1):c.1456-82_1977+177del
NM_000090.4(COL3A1):c.1457G>T (p.Gly486Val) rs1688274077
NM_000090.4(COL3A1):c.1466G>A (p.Gly489Glu) rs587779476
NM_000090.4(COL3A1):c.1471C>T (p.Arg491Ter) rs1057518075
NM_000090.4(COL3A1):c.1475G>A (p.Gly492Glu) rs587779500
NM_000090.4(COL3A1):c.1475G>T (p.Gly492Val) rs587779500
NM_000090.4(COL3A1):c.1501G>A (p.Gly501Arg) rs587779523
NM_000090.4(COL3A1):c.1502G>A (p.Gly501Glu) rs1559056621
NM_000090.4(COL3A1):c.150C>A (p.Cys50Ter)
NM_000090.4(COL3A1):c.1511G>T (p.Gly504Val) rs587779632
NM_000090.4(COL3A1):c.1548dup (p.Pro517fs) rs2153502552
NM_000090.4(COL3A1):c.1556G>A (p.Gly519Glu) rs587779693
NM_000090.4(COL3A1):c.1609-2A>C rs2153502611
NM_000090.4(COL3A1):c.1618G>A (p.Gly540Arg) rs587779584
NM_000090.4(COL3A1):c.1646G>A (p.Gly549Glu) rs587779679
NM_000090.4(COL3A1):c.1652del (p.Pro551fs) rs1060500199
NM_000090.4(COL3A1):c.1654G>A (p.Gly552Arg) rs1688305296
NM_000090.4(COL3A1):c.1655G>A (p.Gly552Glu) rs121912928
NM_000090.4(COL3A1):c.1662+1G>A rs587779535
NM_000090.4(COL3A1):c.1662+1G>C rs587779535
NM_000090.4(COL3A1):c.1662+1G>T rs587779535
NM_000090.4(COL3A1):c.1662+2dup rs587779537
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter) rs375737772
NM_000090.4(COL3A1):c.1691G>A (p.Gly564Asp)
NM_000090.4(COL3A1):c.1701_2392-342del
NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000090.4(COL3A1):c.1744G>C (p.Gly582Arg) rs121912923
NM_000090.4(COL3A1):c.1761+15_1870-100del
NM_000090.4(COL3A1):c.1761+1G>A rs1688322811
NM_000090.4(COL3A1):c.1761+2T>C rs587779530
NM_000090.4(COL3A1):c.1761+2T>G rs587779530
NM_000090.4(COL3A1):c.1761+4_1761+5del rs1559057346
NM_000090.4(COL3A1):c.1761+5G>A rs397509372
NM_000090.4(COL3A1):c.1761+5G>T rs397509372
NM_000090.4(COL3A1):c.1762-2A>G rs587779722
NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser) rs1553508338
NM_000090.4(COL3A1):c.1763G>A (p.Gly588Asp) rs587779691
NM_000090.4(COL3A1):c.1773dup (p.Lys592Ter) rs587779608
NM_000090.4(COL3A1):c.1786C>T (p.Arg596Ter) rs587779527
NM_000090.4(COL3A1):c.1808G>A (p.Gly603Asp) rs587779477
NM_000090.4(COL3A1):c.1808G>T (p.Gly603Val) rs587779477
NM_000090.4(COL3A1):c.1808del (p.Gly603fs) rs587779594
NM_000090.4(COL3A1):c.1816G>C (p.Gly606Arg) rs587779613
NM_000090.4(COL3A1):c.181del (p.Leu61fs) rs2153501353
NM_000090.4(COL3A1):c.1831_1832del (p.Asn611fs) rs587779462
NM_000090.4(COL3A1):c.1844G>A (p.Gly615Glu) rs587779634
NM_000090.4(COL3A1):c.1859del (p.Pro620fs) rs1576467144
NM_000090.4(COL3A1):c.1861G>C (p.Gly621Arg) rs587779616
NM_000090.4(COL3A1):c.1861G>T (p.Gly621Trp) rs587779616
NM_000090.4(COL3A1):c.1862G>A (p.Gly621Glu) rs587779539
NM_000090.4(COL3A1):c.1862G>T (p.Gly621Val) rs587779539
NM_000090.4(COL3A1):c.1869+1G>C rs587779600
NM_000090.4(COL3A1):c.1869+5G>A rs397509376
NM_000090.4(COL3A1):c.1869+5G>T rs397509376
NM_000090.4(COL3A1):c.1870-2A>G rs587779575
NM_000090.4(COL3A1):c.1870-2A>T rs587779575
NM_000090.4(COL3A1):c.1871G>A (p.Gly624Glu) rs1553508463
NM_000090.4(COL3A1):c.1897G>A (p.Gly633Arg) rs1553508473
NM_000090.4(COL3A1):c.1898G>A (p.Gly633Glu) rs587779611
NM_000090.4(COL3A1):c.1905del (p.Gly636fs)
NM_000090.4(COL3A1):c.1906G>C (p.Gly636Arg) rs587779522
NM_000090.4(COL3A1):c.1912_1913del (p.Gln638fs) rs1576467391
NM_000090.4(COL3A1):c.1915G>A (p.Gly639Arg) rs587779435
NM_000090.4(COL3A1):c.1915G>C (p.Gly639Arg) rs587779435
NM_000090.4(COL3A1):c.1916G>A (p.Gly639Glu) rs587779421
NM_000090.4(COL3A1):c.1923+1G>A rs587779573
NM_000090.4(COL3A1):c.1923+1G>C rs587779573
NM_000090.4(COL3A1):c.1923+2_1923+5del rs786200946
NM_000090.4(COL3A1):c.1925G>T (p.Gly642Val) rs587779661
NM_000090.4(COL3A1):c.1961G>A (p.Gly654Glu) rs587779620
NM_000090.4(COL3A1):c.1970G>A (p.Gly657Glu) rs587779699
NM_000090.4(COL3A1):c.1974_1977+4del rs587779475
NM_000090.4(COL3A1):c.1977+2T>G rs587779603
NM_000090.4(COL3A1):c.1978-6_1981del rs587779700
NM_000090.4(COL3A1):c.1979G>A (p.Gly660Asp) rs587779493
NM_000090.4(COL3A1):c.1987G>C (p.Gly663Arg) rs587779433
NM_000090.4(COL3A1):c.1988G>A (p.Gly663Asp) rs587779454
NM_000090.4(COL3A1):c.1988G>T (p.Gly663Val) rs587779454
NM_000090.4(COL3A1):c.1997G>A (p.Gly666Asp) rs121912921
NM_000090.4(COL3A1):c.2022+2T>C rs587779429
NM_000090.4(COL3A1):c.2022G>A (p.Lys674=) rs587779643
NM_000090.4(COL3A1):c.2022G>T (p.Lys674Asn) rs587779643
NM_000090.4(COL3A1):c.2023-1G>A rs587779708
NM_000090.4(COL3A1):c.2024G>T (p.Gly675Val) rs587779597
NM_000090.4(COL3A1):c.2044G>A (p.Glu682Lys) rs2153502995
NM_000090.4(COL3A1):c.2051G>A (p.Gly684Glu) rs587779587
NM_000090.4(COL3A1):c.2051G>T (p.Gly684Val) rs587779587
NM_000090.4(COL3A1):c.2059G>C (p.Gly687Arg) rs587779577
NM_000090.4(COL3A1):c.2068G>A (p.Gly690Arg) rs587779474
NM_000090.4(COL3A1):c.2069G>T (p.Gly690Val) rs587779458
NM_000090.4(COL3A1):c.2078G>A (p.Gly693Glu)
NM_000090.4(COL3A1):c.2078G>C (p.Gly693Ala) rs587779442
NM_000090.4(COL3A1):c.2078G>T (p.Gly693Val) rs587779442
NM_000090.4(COL3A1):c.2087G>A (p.Gly696Asp) rs587779591
NM_000090.4(COL3A1):c.2095G>C (p.Gly699Arg) rs587779668
NM_000090.4(COL3A1):c.2096G>A (p.Gly699Asp) rs587779706
NM_000090.4(COL3A1):c.2104G>A (p.Gly702Ser)
NM_000090.4(COL3A1):c.2105G>A (p.Gly702Asp) rs587779512
NM_000090.4(COL3A1):c.2105G>T (p.Gly702Val) rs587779512
NM_000090.4(COL3A1):c.2113G>A (p.Gly705Arg) rs587779623
NM_000090.4(COL3A1):c.2114G>A (p.Gly705Glu) rs587779460
NM_000090.4(COL3A1):c.2121+1G>C rs587779675
NM_000090.4(COL3A1):c.2123G>T (p.Gly708Val) rs111929073
NM_000090.4(COL3A1):c.2131G>A (p.Gly711Ser) rs587779695
NM_000090.4(COL3A1):c.2134_2160del (p.Pro712_Gly720del) rs587779560
NM_000090.4(COL3A1):c.2140G>A (p.Gly714Arg) rs587779437
NM_000090.4(COL3A1):c.2141G>A (p.Gly714Glu) rs587779678
NM_000090.4(COL3A1):c.2142_2168del (p.Pro715_Gly723del) rs587779657
NM_000090.4(COL3A1):c.2150G>A (p.Gly717Asp) rs587779549
NM_000090.4(COL3A1):c.2168G>A (p.Gly723Asp) rs587779581
NM_000090.4(COL3A1):c.2176G>A (p.Gly726Arg) rs587779638
NM_000090.4(COL3A1):c.2177G>A (p.Gly726Glu) rs587779698
NM_000090.4(COL3A1):c.2185G>A (p.Gly729Arg) rs587779543
NM_000090.4(COL3A1):c.2186G>A (p.Gly729Glu) rs587779680
NM_000090.4(COL3A1):c.2188G>T (p.Glu730Ter)
NM_000090.4(COL3A1):c.2194G>A (p.Gly732Arg) rs587779606
NM_000090.4(COL3A1):c.2199del (p.Gly735fs)
NM_000090.4(COL3A1):c.2203G>A (p.Gly735Arg) rs587779484
NM_000090.4(COL3A1):c.2212G>A (p.Gly738Ser) rs121912925
NM_000090.4(COL3A1):c.2212G>T (p.Gly738Cys) rs121912925
NM_000090.4(COL3A1):c.2213G>T (p.Gly738Val) rs587779615
NM_000090.4(COL3A1):c.2221G>A (p.Gly741Ser) rs587779685
NM_000090.4(COL3A1):c.2221G>T (p.Gly741Cys) rs587779685
NM_000090.4(COL3A1):c.2222G>A (p.Gly741Asp) rs553203474
NM_000090.4(COL3A1):c.2230G>C (p.Gly744Arg) rs2153503061
NM_000090.4(COL3A1):c.2230G>T (p.Gly744Cys)
NM_000090.4(COL3A1):c.2231G>T (p.Gly744Val) rs587779697
NM_000090.4(COL3A1):c.2267G>A (p.Gly756Glu) rs1576468562
NM_000090.4(COL3A1):c.2276G>A (p.Gly759Asp) rs587779418
NM_000090.4(COL3A1):c.2284-108_3490del
NM_000090.4(COL3A1):c.2284-2A>G rs587779558
NM_000090.4(COL3A1):c.2284-667_3256-44del
NM_000090.4(COL3A1):c.2284G>A (p.Gly762Ser) rs587779694
NM_000090.4(COL3A1):c.2284G>C (p.Gly762Arg) rs587779694
NM_000090.4(COL3A1):c.2285G>A (p.Gly762Asp) rs587779541
NM_000090.4(COL3A1):c.2285G>T (p.Gly762Val) rs587779541
NM_000090.4(COL3A1):c.2293G>A (p.Gly765Ser) rs587779630
NM_000090.4(COL3A1):c.2294G>T (p.Gly765Val) rs587779492
NM_000090.4(COL3A1):c.2337+1G>A rs587779663
NM_000090.4(COL3A1):c.2337+2T>C rs587779513
NM_000090.4(COL3A1):c.2337G>A (p.Lys779=) rs587779461
NM_000090.4(COL3A1):c.2337G>C (p.Lys779Asn)
NM_000090.4(COL3A1):c.2338-31_3040-194del
NM_000090.4(COL3A1):c.2356G>A (p.Gly786Arg) rs113485686
NM_000090.4(COL3A1):c.2357G>T (p.Gly786Val) rs587779564
NM_000090.4(COL3A1):c.2392-2A>C rs1553508957
NM_000090.4(COL3A1):c.2392-3_2395del rs1559059873
NM_000090.4(COL3A1):c.2398_2401del (p.Arg800fs)
NM_000090.4(COL3A1):c.2402G>A (p.Gly801Asp) rs587779689
NM_000090.4(COL3A1):c.2437G>A (p.Gly813Ser) rs397509369
NM_000090.4(COL3A1):c.2445+2dup rs587779572
NM_000090.4(COL3A1):c.2445+5G>A rs587779636
NM_000090.4(COL3A1):c.2482G>T (p.Gly828Trp) rs587779486
NM_000090.4(COL3A1):c.2490_2516del (p.Glu832_Gly840del) rs397509374
NM_000090.4(COL3A1):c.2494G>T (p.Glu832Ter) rs1460396340
NM_000090.4(COL3A1):c.2501G>A (p.Gly834Asp) rs587779642
NM_000090.4(COL3A1):c.2510G>A (p.Gly837Asp) rs587779526
NM_000090.4(COL3A1):c.2534dup (p.Gly846fs) rs587779653
NM_000090.4(COL3A1):c.2553+1G>A rs587779664
NM_000090.4(COL3A1):c.2553+1G>C rs587779664
NM_000090.4(COL3A1):c.2553+1del rs587779514
NM_000090.4(COL3A1):c.2553+2T>C rs587779684
NM_000090.4(COL3A1):c.2553+3A>T rs587779713
NM_000090.4(COL3A1):c.2553+5G>T rs397509371
NM_000090.4(COL3A1):c.2554-1G>A rs587779519
NM_000090.4(COL3A1):c.2554G>T (p.Gly852Cys) rs587779690
NM_000090.4(COL3A1):c.2555G>A (p.Gly852Asp) rs587779494
NM_000090.4(COL3A1):c.2563G>T (p.Gly855Cys) rs2153503430
NM_000090.4(COL3A1):c.2564G>A (p.Gly855Asp) rs587779466
NM_000090.4(COL3A1):c.2569C>T (p.Gln857Ter) rs1559060412
NM_000090.4(COL3A1):c.2573G>T (p.Gly858Val) rs587779717
NM_000090.4(COL3A1):c.2600G>A (p.Gly867Asp) rs587779417
NM_000090.4(COL3A1):c.2607+5G>A rs587779457
NM_000090.4(COL3A1):c.2607+5G>T rs587779457
NM_000090.4(COL3A1):c.2636G>T (p.Gly879Val) rs587779645
NM_000090.4(COL3A1):c.2645G>A (p.Gly882Asp) rs587779622
NM_000090.4(COL3A1):c.2655_2661+7delinsGACCTGAGAC rs587779590
NM_000090.4(COL3A1):c.2672G>A (p.Gly891Glu) rs1688528616
NM_000090.4(COL3A1):c.2681G>C (p.Gly894Ala) rs587779589
NM_000090.4(COL3A1):c.2699G>A (p.Gly900Asp) rs587779599
NM_000090.4(COL3A1):c.2708G>A (p.Gly903Glu) rs587779505
NM_000090.4(COL3A1):c.2726G>T (p.Gly909Val) rs587779483
NM_000090.4(COL3A1):c.2735G>A (p.Gly912Asp) rs587779716
NM_000090.4(COL3A1):c.2753G>A (p.Gly918Glu) rs587779662
NM_000090.4(COL3A1):c.2770G>A (p.Gly924Ser) rs587779471
NM_000090.4(COL3A1):c.2770G>T (p.Gly924Cys) rs587779471
NM_000090.4(COL3A1):c.2771G>A (p.Gly924Asp) rs587779450
NM_000090.4(COL3A1):c.2771G>T (p.Gly924Val) rs587779450
NM_000090.4(COL3A1):c.2780G>A (p.Gly927Asp) rs587779432
NM_000090.4(COL3A1):c.2801del (p.Ser934fs)
NM_000090.4(COL3A1):c.2806G>C (p.Gly936Arg) rs587779566
NM_000090.4(COL3A1):c.2815G>A (p.Gly939Ser) rs587779550
NM_000090.4(COL3A1):c.2815G>T (p.Gly939Cys) rs587779550
NM_000090.4(COL3A1):c.2823+1G>A rs587779424
NM_000090.4(COL3A1):c.2824-1G>A rs587779617
NM_000090.4(COL3A1):c.2824G>A (p.Gly942Arg) rs587779438
NM_000090.4(COL3A1):c.2825G>A (p.Gly942Glu) rs587779517
NM_000090.4(COL3A1):c.2828del (p.Ala943fs) rs1553509208
NM_000090.4(COL3A1):c.2833G>A (p.Gly945Ser) rs587779567
NM_000090.4(COL3A1):c.2842G>A (p.Gly948Arg) rs587779447
NM_000090.4(COL3A1):c.2860G>A (p.Gly954Arg) rs587779674
NM_000090.4(COL3A1):c.2861G>A (p.Gly954Glu) rs587779434
NM_000090.4(COL3A1):c.2869G>A (p.Gly957Ser) rs121912913
NM_000090.4(COL3A1):c.2869G>T (p.Gly957Cys) rs121912913
NM_000090.4(COL3A1):c.2870G>A (p.Gly957Asp) rs587779654
NM_000090.4(COL3A1):c.2870G>T (p.Gly957Val) rs587779654
NM_000090.4(COL3A1):c.2879G>T (p.Gly960Val) rs121912922
NM_000090.4(COL3A1):c.2887G>C (p.Gly963Arg) rs587779640
NM_000090.4(COL3A1):c.2887G>T (p.Gly963Cys) rs587779640
NM_000090.4(COL3A1):c.2888G>A (p.Gly963Asp) rs587779511
NM_000090.4(COL3A1):c.2888G>T (p.Gly963Val) rs587779511
NM_000090.4(COL3A1):c.2888del (p.Gly963fs)
NM_000090.4(COL3A1):c.2897G>T (p.Gly966Val) rs587779571
NM_000090.4(COL3A1):c.2905G>A (p.Gly969Arg) rs587779580
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser) rs587779723
NM_000090.4(COL3A1):c.2915G>A (p.Gly972Asp) rs587779559
NM_000090.4(COL3A1):c.2915G>C (p.Gly972Ala) rs587779559
NM_000090.4(COL3A1):c.2924G>T (p.Gly975Val) rs587779542
NM_000090.4(COL3A1):c.2931+1G>A rs397509373
NM_000090.4(COL3A1):c.2932G>A (p.Gly978Ser) rs1688561706
NM_000090.4(COL3A1):c.2933G>A (p.Gly978Asp) rs587779595
NM_000090.4(COL3A1):c.2935G>T (p.Glu979Ter) rs587779488
NM_000090.4(COL3A1):c.2941G>A (p.Gly981Arg) rs587779449
NM_000090.4(COL3A1):c.2941G>C (p.Gly981Arg) rs587779449
NM_000090.4(COL3A1):c.2950_2951delinsAC (p.Gly984Thr) rs1559061242
NM_000090.4(COL3A1):c.2955_2958dup (p.Gly987Ter) rs2153503632
NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser) rs587779583
NM_000090.4(COL3A1):c.2977G>T (p.Gly993Cys) rs587779416
NM_000090.4(COL3A1):c.2978G>A (p.Gly993Asp) rs587779456
NM_000090.4(COL3A1):c.2986G>A (p.Gly996Arg) rs2153503634
NM_000090.4(COL3A1):c.2987G>A (p.Gly996Glu) rs587779576
NM_000090.4(COL3A1):c.2995G>A (p.Gly999Ser) rs587779548
NM_000090.4(COL3A1):c.2995G>C (p.Gly999Arg) rs587779548
NM_000090.4(COL3A1):c.2996G>A (p.Gly999Asp)
NM_000090.4(COL3A1):c.3023G>A (p.Gly1008Asp) rs587779659
NM_000090.4(COL3A1):c.3025G>T (p.Glu1009Ter)
NM_000090.4(COL3A1):c.3032G>A (p.Gly1011Glu) rs587779552
NM_000090.4(COL3A1):c.3039+154_3525+223del
NM_000090.4(COL3A1):c.3039+1G>A rs587779506
NM_000090.4(COL3A1):c.3039+5G>A rs587779568
NM_000090.4(COL3A1):c.3039+6T>C rs587779532
NM_000090.4(COL3A1):c.3040-127_3255+107del
NM_000090.4(COL3A1):c.3040G>A (p.Gly1014Arg) rs1553509391
NM_000090.4(COL3A1):c.3041G>A (p.Gly1014Glu) rs121912916
NM_000090.4(COL3A1):c.3062_3064del (p.Leu1021del) rs587779529
NM_000090.4(COL3A1):c.3070C>T (p.Arg1024Ter) rs587779479
NM_000090.4(COL3A1):c.3093+1G>A rs869312034
NM_000090.4(COL3A1):c.3093+1G>T rs869312034
NM_000090.4(COL3A1):c.3093+2T>C rs587779503
NM_000090.4(COL3A1):c.3093+2T>G rs587779503
NM_000090.4(COL3A1):c.3095G>T (p.Gly1032Val) rs587779428
NM_000090.4(COL3A1):c.30G>A (p.Trp10Ter) rs587779677
NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys) rs587779704
NM_000090.4(COL3A1):c.3104G>T (p.Gly1035Val) rs587779582
NM_000090.4(COL3A1):c.3122G>T (p.Gly1041Val) rs587779491
NM_000090.4(COL3A1):c.3140G>A (p.Gly1047Asp) rs587779545
NM_000090.4(COL3A1):c.3149G>A (p.Gly1050Asp) rs121912914
NM_000090.4(COL3A1):c.3149G>T (p.Gly1050Val) rs121912914
NM_000090.4(COL3A1):c.3157G>C (p.Gly1053Arg) rs587779651
NM_000090.4(COL3A1):c.3158G>A (p.Gly1053Asp) rs1576471840
NM_000090.4(COL3A1):c.3167G>A (p.Gly1056Asp) rs587779540
NM_000090.4(COL3A1):c.3176G>T (p.Gly1059Val) rs587779619
NM_000090.4(COL3A1):c.318_325del (p.Pro107fs) rs2153501416
NM_000090.4(COL3A1):c.3193G>A (p.Gly1065Arg) rs587779563
NM_000090.4(COL3A1):c.3194G>A (p.Gly1065Glu) rs1553509430
NM_000090.4(COL3A1):c.3202-2A>G rs587779682
NM_000090.4(COL3A1):c.3203G>T (p.Gly1068Val) rs587779551
NM_000090.4(COL3A1):c.3204CCCTGCTGG[1] (p.1069PAG[1]) rs771791598
NM_000090.4(COL3A1):c.3212G>T (p.Gly1071Val) rs587779709
NM_000090.4(COL3A1):c.3220G>A (p.Gly1074Ser) rs587779554
NM_000090.4(COL3A1):c.3223_3240del (p.Ala1075_Gly1080del) rs587779509
NM_000090.4(COL3A1):c.3229G>A (p.Gly1077Ser) rs886038892
NM_000090.4(COL3A1):c.3230G>T (p.Gly1077Val) rs121912915
NM_000090.4(COL3A1):c.3239G>A (p.Gly1080Asp) rs587779469
NM_000090.4(COL3A1):c.3244C>T (p.Arg1082Ter)
NM_000090.4(COL3A1):c.3255+1G>A rs587779480
NM_000090.4(COL3A1):c.3255+1G>C rs587779480
NM_000090.4(COL3A1):c.3255+5G>A rs587779501
NM_000090.4(COL3A1):c.3256-43T>G rs587779667
NM_000090.4(COL3A1):c.3257G>T (p.Gly1086Val) rs1060500203
NM_000090.4(COL3A1):c.3262C>T (p.Gln1088Ter) rs1328301317
NM_000090.4(COL3A1):c.3266G>A (p.Gly1089Asp) rs587779672
NM_000090.4(COL3A1):c.3274G>T (p.Gly1092Cys) rs2153503888
NM_000090.4(COL3A1):c.3275G>T (p.Gly1092Val) rs587779666
NM_000090.4(COL3A1):c.3284G>A (p.Gly1095Asp) rs587779610
NM_000090.4(COL3A1):c.3284G>T (p.Gly1095Val) rs587779610
NM_000090.4(COL3A1):c.3290_3291del (p.Thr1097fs) rs2153503895
NM_000090.4(COL3A1):c.3293G>T (p.Gly1098Val) rs587779614
NM_000090.4(COL3A1):c.3301G>A (p.Gly1101Arg) rs587779439
NM_000090.4(COL3A1):c.3302G>A (p.Gly1101Glu) rs121912924
NM_000090.4(COL3A1):c.3319G>A (p.Gly1107Arg) rs587779561
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter) rs112371422
NM_000090.4(COL3A1):c.3347G>T (p.Gly1116Val) rs587779445
NM_000090.4(COL3A1):c.3356G>A (p.Gly1119Asp) rs587779639
NM_000090.4(COL3A1):c.3364-2A>C rs587779546
NM_000090.4(COL3A1):c.3391G>A (p.Gly1131Ser) rs587779536
NM_000090.4(COL3A1):c.3410G>A (p.Gly1137Asp) rs587779720
NM_000090.4(COL3A1):c.3417+1G>A rs587779444
NM_000090.4(COL3A1):c.3417+1G>C rs587779444
NM_000090.4(COL3A1):c.3417+1G>T rs587779444
NM_000090.4(COL3A1):c.3417+2T>C
NM_000090.4(COL3A1):c.3417+4_3417+5del rs1553509630
NM_000090.4(COL3A1):c.3417+5G>A rs587779448
NM_000090.4(COL3A1):c.3418-1G>T rs587779562
NM_000090.4(COL3A1):c.3418-2A>G rs587779502
NM_000090.4(COL3A1):c.3418-2A>T rs587779502
NM_000090.4(COL3A1):c.3419G>A (p.Gly1140Glu) rs587779648
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu) rs587779495
NM_000090.4(COL3A1):c.3437del (p.Gly1146fs)
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs) rs2153503975
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000090.4(COL3A1):c.3473G>A (p.Gly1158Asp) rs587779472
NM_000090.4(COL3A1):c.3482G>A (p.Gly1161Glu) rs587779473
NM_000090.4(COL3A1):c.3482G>T (p.Gly1161Val) rs587779473
NM_000090.4(COL3A1):c.3490G>A (p.Gly1164Arg) rs587779553
NM_000090.4(COL3A1):c.3490G>C (p.Gly1164Arg) rs587779553
NM_000090.4(COL3A1):c.3490G>T (p.Gly1164Trp) rs587779553
NM_000090.4(COL3A1):c.3491G>A (p.Gly1164Glu) rs587779431
NM_000090.4(COL3A1):c.3491G>T (p.Gly1164Val) rs587779431
NM_000090.4(COL3A1):c.3496C>T (p.Arg1166Ter) rs587779646
NM_000090.4(COL3A1):c.3499G>C (p.Gly1167Arg) rs587779609
NM_000090.4(COL3A1):c.3499G>T (p.Gly1167Cys) rs587779609
NM_000090.4(COL3A1):c.3500G>A (p.Gly1167Asp) rs587779578
NM_000090.4(COL3A1):c.3500G>T (p.Gly1167Val) rs587779578
NM_000090.4(COL3A1):c.3508G>A (p.Gly1170Ser) rs587779482
NM_000090.4(COL3A1):c.3509G>A (p.Gly1170Asp) rs587779465
NM_000090.4(COL3A1):c.3509G>T (p.Gly1170Val) rs587779465
NM_000090.4(COL3A1):c.3517G>A (p.Gly1173Arg) rs587779521
NM_000090.4(COL3A1):c.3518G>A (p.Gly1173Glu) rs121912918
NM_000090.4(COL3A1):c.3518G>T (p.Gly1173Val) rs121912918
NM_000090.4(COL3A1):c.3527G>A (p.Gly1176Asp) rs1553509726
NM_000090.4(COL3A1):c.3527_3528delinsAA (p.Gly1176Glu) rs587779669
NM_000090.4(COL3A1):c.3535G>C (p.Gly1179Arg) rs587779574
NM_000090.4(COL3A1):c.3536G>T (p.Gly1179Val) rs587779627
NM_000090.4(COL3A1):c.3544G>A (p.Gly1182Arg) rs587779683
NM_000090.4(COL3A1):c.3545G>A (p.Gly1182Glu) rs111505097
NM_000090.4(COL3A1):c.3545G>T (p.Gly1182Val) rs111505097
NM_000090.4(COL3A1):c.3554G>A (p.Gly1185Asp) rs121912917
NM_000090.4(COL3A1):c.3554G>T (p.Gly1185Val) rs121912917
NM_000090.4(COL3A1):c.3562G>A (p.Gly1188Arg) rs587779504
NM_000090.4(COL3A1):c.3563G>A (p.Gly1188Glu) rs112456072
NM_000090.4(COL3A1):c.3572G>A (p.Gly1191Asp) rs587779703
NM_000090.4(COL3A1):c.3575_3576insAGGG (p.Pro1193fs) rs587779712
NM_000090.4(COL3A1):c.3689del (p.Asn1230fs)
NM_000090.4(COL3A1):c.3737_3740del (p.Glu1246fs) rs1688663336
NM_000090.4(COL3A1):c.3833G>A (p.Trp1278Ter) rs1060500187
NM_000090.4(COL3A1):c.3847C>T (p.Gln1283Ter) rs587779467
NM_000090.4(COL3A1):c.3863A>T (p.Asp1288Val) rs587779658
NM_000090.4(COL3A1):c.3966_3972delinsTT (p.Glu1322fs) rs1553509869
NM_000090.4(COL3A1):c.3966del (p.Lys1323fs) rs587779490
NM_000090.4(COL3A1):c.3982_3986dup (p.Glu1330fs)
NM_000090.4(COL3A1):c.3989del (p.Glu1330fs) rs587779647
NM_000090.4(COL3A1):c.4008dup (p.Gln1337fs)
NM_000090.4(COL3A1):c.4011+1G>A
NM_000090.4(COL3A1):c.4011+1G>T rs112532745
NM_000090.4(COL3A1):c.406G>C (p.Gly136Arg) rs387906557
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter) rs794728057
NM_000090.4(COL3A1):c.4087C>T (p.Arg1363Ter) rs794728060
NM_000090.4(COL3A1):c.413del (p.Pro138fs) rs587779707
NM_000090.4(COL3A1):c.413dup (p.Gly139fs) rs587779707
NM_000090.4(COL3A1):c.4226_4233del (p.Thr1409fs)
NM_000090.4(COL3A1):c.4254G>A (p.Thr1418=) rs587779565
NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter) rs1553510000
NM_000090.4(COL3A1):c.4271G>A (p.Trp1424Ter)
NM_000090.4(COL3A1):c.4286_4287del (p.Val1428_Phe1429insTer) rs587779719
NM_000090.4(COL3A1):c.4294C>T (p.Arg1432Ter) rs587779585
NM_000090.4(COL3A1):c.4323dup (p.Val1442fs) rs1688730568
NM_000090.4(COL3A1):c.4360C>T (p.Gln1454Ter) rs1576474929
NM_000090.4(COL3A1):c.4399T>C (p.Ter1467Gln) rs587779618
NM_000090.4(COL3A1):c.4del (p.Met1_Met2insTer)
NM_000090.4(COL3A1):c.500dup (p.Gly168fs)
NM_000090.4(COL3A1):c.536del (p.Pro179fs) rs1553507180
NM_000090.4(COL3A1):c.539G>A (p.Gly180Asp) rs587779714
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser) rs121912926
NM_000090.4(COL3A1):c.547G>C (p.Gly183Arg) rs121912926
NM_000090.4(COL3A1):c.547G>T (p.Gly183Cys) rs121912926
NM_000090.4(COL3A1):c.548G>A (p.Gly183Asp) rs587779420
NM_000090.4(COL3A1):c.548G>C (p.Gly183Ala) rs587779420
NM_000090.4(COL3A1):c.548G>T (p.Gly183Val) rs587779420
NM_000090.4(COL3A1):c.555del (p.Gly186fs) rs587779451
NM_000090.4(COL3A1):c.556G>A (p.Gly186Ser) rs587779446
NM_000090.4(COL3A1):c.565G>C (p.Gly189Arg) rs587779507
NM_000090.4(COL3A1):c.575G>T (p.Gly192Val) rs587779710
NM_000090.4(COL3A1):c.582+1G>C rs587779508
NM_000090.4(COL3A1):c.582+2dup rs587779524
NM_000090.4(COL3A1):c.582+55_798+320delinsTATGCAAAATCAAAC
NM_000090.4(COL3A1):c.582+5G>A rs587779671
NM_000090.4(COL3A1):c.582+5G>T rs587779671
NM_000090.4(COL3A1):c.582+5_582+11delinsACA rs1559053784
NM_000090.4(COL3A1):c.582+6T>A rs397509375
NM_000090.4(COL3A1):c.582+6T>C rs397509375
NM_000090.4(COL3A1):c.583G>A (p.Gly195Arg) rs267599120
NM_000090.4(COL3A1):c.583G>C (p.Gly195Arg) rs267599120
NM_000090.4(COL3A1):c.592G>A (p.Gly198Arg) rs587779601
NM_000090.4(COL3A1):c.593G>A (p.Gly198Glu) rs587779641
NM_000090.4(COL3A1):c.601G>C (p.Gly201Arg) rs587779436
NM_000090.4(COL3A1):c.608del (p.Pro203fs) rs1553507265
NM_000090.4(COL3A1):c.610G>A (p.Gly204Ser) rs587779711
NM_000090.4(COL3A1):c.611G>A (p.Gly204Asp) rs587779626
NM_000090.4(COL3A1):c.615_629dup (p.Gly207_Pro211dup) rs587779628
NM_000090.4(COL3A1):c.619G>A (p.Gly207Arg)
NM_000090.4(COL3A1):c.619G>T (p.Gly207Trp) rs1553507274
NM_000090.4(COL3A1):c.620G>T (p.Gly207Val) rs587779592
NM_000090.4(COL3A1):c.629G>T (p.Gly210Val) rs587779515
NM_000090.4(COL3A1):c.631_636+6delinsTACTAAATATA rs587779681
NM_000090.4(COL3A1):c.636+1G>A rs587779676
NM_000090.4(COL3A1):c.636+5G>A rs587779688
NM_000090.4(COL3A1):c.637G>A (p.Gly213Ser) rs587779557
NM_000090.4(COL3A1):c.638G>A (p.Gly213Asp) rs2153501864
NM_000090.4(COL3A1):c.647G>A (p.Gly216Glu) rs587779596
NM_000090.4(COL3A1):c.648_665del (p.Pro218_Pro223del) rs2153501869
NM_000090.4(COL3A1):c.650_1663-83del
NM_000090.4(COL3A1):c.655G>T (p.Gly219Cys) rs587779624
NM_000090.4(COL3A1):c.656G>A (p.Gly219Asp) rs587779441
NM_000090.4(COL3A1):c.656G>C (p.Gly219Ala) rs587779441
NM_000090.4(COL3A1):c.662_663dup (p.Gly222Ter)
NM_000090.4(COL3A1):c.665G>A (p.Gly222Asp) rs587779518
NM_000090.4(COL3A1):c.665G>T (p.Gly222Val) rs587779518
NM_000090.4(COL3A1):c.674G>A (p.Gly225Asp) rs587779533
NM_000090.4(COL3A1):c.674G>C (p.Gly225Ala) rs587779533
NM_000090.4(COL3A1):c.674G>T (p.Gly225Val) rs587779533
NM_000090.4(COL3A1):c.682G>C (p.Gly228Arg) rs587779470
NM_000090.4(COL3A1):c.683G>A (p.Gly228Glu) rs587779555
NM_000090.4(COL3A1):c.690+1G>A rs587779660
NM_000090.4(COL3A1):c.690+2T>A rs587779497
NM_000090.4(COL3A1):c.690+2T>G rs587779497
NM_000090.4(COL3A1):c.691-1G>A
NM_000090.4(COL3A1):c.691-2A>G rs1576463100
NM_000090.4(COL3A1):c.698C>G (p.Ser233Ter) rs2153501942
NM_000090.4(COL3A1):c.701G>A (p.Gly234Asp) rs587779656
NM_000090.4(COL3A1):c.709G>A (p.Gly237Arg) rs587779625
NM_000090.4(COL3A1):c.712C>T (p.Arg238Ter) rs1393544920
NM_000090.4(COL3A1):c.718G>C (p.Gly240Arg) rs587779468
NM_000090.4(COL3A1):c.728G>A (p.Gly243Glu) rs587779629
NM_000090.4(COL3A1):c.728G>T (p.Gly243Val) rs587779629
NM_000090.4(COL3A1):c.737G>A (p.Gly246Glu) rs587779570
NM_000090.4(COL3A1):c.746G>A (p.Gly249Asp) rs121912927
NM_000090.4(COL3A1):c.746G>T (p.Gly249Val) rs121912927
NM_000090.4(COL3A1):c.754G>A (p.Gly252Ser)
NM_000090.4(COL3A1):c.754G>C (p.Gly252Arg) rs587779705
NM_000090.4(COL3A1):c.755G>A (p.Gly252Asp) rs587779464
NM_000090.4(COL3A1):c.755G>T (p.Gly252Val) rs587779464
NM_000090.4(COL3A1):c.764G>A (p.Gly255Glu) rs587779605
NM_000090.4(COL3A1):c.764G>T (p.Gly255Val) rs587779605
NM_000090.4(COL3A1):c.766del (p.Ile256fs) rs587779455
NM_000090.4(COL3A1):c.782G>A (p.Gly261Asp) rs587779635
NM_000090.4(COL3A1):c.791G>A (p.Gly264Glu) rs587779604
NM_000090.4(COL3A1):c.798+1G>A rs587779463
NM_000090.4(COL3A1):c.799G>A (p.Gly267Ser) rs587779718
NM_000090.4(COL3A1):c.800G>T (p.Gly267Val) rs587779427
NM_000090.4(COL3A1):c.809G>A (p.Gly270Glu) rs587779478
NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter) rs1057521106
NM_000090.4(COL3A1):c.817G>T (p.Gly273Ter) rs2153502051
NM_000090.4(COL3A1):c.81del (p.Val28fs) rs1060500200
NM_000090.4(COL3A1):c.826G>A (p.Gly276Ser) rs1576463632
NM_000090.4(COL3A1):c.827G>A (p.Gly276Asp) rs587779644
NM_000090.4(COL3A1):c.836G>A (p.Gly279Asp) rs587779593
NM_000090.4(COL3A1):c.844G>A (p.Gly282Arg) rs587779531
NM_000090.4(COL3A1):c.845G>T (p.Gly282Val) rs1576463663
NM_000090.4(COL3A1):c.889G>A (p.Gly297Arg) rs1553507557
NM_000090.4(COL3A1):c.898-1G>C rs587779556
NM_000090.4(COL3A1):c.898G>C (p.Gly300Arg) rs587779481
NM_000090.4(COL3A1):c.899G>A (p.Gly300Asp) rs587779440
NM_000090.4(COL3A1):c.899G>T (p.Gly300Val) rs587779440
NM_000090.4(COL3A1):c.907G>A (p.Gly303Arg) rs121912919
NM_000090.4(COL3A1):c.922C>T (p.Arg308Ter)
NM_000090.4(COL3A1):c.926G>A (p.Gly309Glu) rs113871730
NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs) rs772827388
NM_000090.4(COL3A1):c.944G>C (p.Gly315Ala) rs587779487
NM_000090.4(COL3A1):c.951+1G>A rs587779652
NM_000090.4(COL3A1):c.951+2T>A rs587779426
NM_000090.4(COL3A1):c.951+2T>C rs587779426
NM_000090.4(COL3A1):c.951+3G>T rs587779452
NM_000090.4(COL3A1):c.951+4A>T rs587779598
NM_000090.4(COL3A1):c.951+4_951+5del rs1559055162
NM_000090.4(COL3A1):c.951+5G>A rs587779422
NM_000090.4(COL3A1):c.951+6T>A rs587779423
NM_000090.4(COL3A1):c.951+6T>C rs587779423
NM_000090.4(COL3A1):c.951_951+14del rs587779425
NM_000090.4(COL3A1):c.952-2del rs2153502163
NM_000090.4(COL3A1):c.953G>A (p.Gly318Asp) rs1553507614
NM_000090.4(COL3A1):c.955_974delinsTTTACATCGAGGGTTTTAAAGTTTACA (p.Ala319fs) rs587779655
NM_000090.4(COL3A1):c.962G>A (p.Gly321Asp) rs587779588
NM_000090.4(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000090.4(COL3A1):c.976C>T (p.Arg326Ter) rs587779607
NM_000090.4(COL3A1):c.996+1G>A rs587779516
NM_000090.4(COL3A1):c.996+2T>A rs587779649
NM_000090.4(COL3A1):c.997-10A>G rs587779670
NM_000090.4(COL3A1):c.997-1G>C rs587779687
NM_000090.4(COL3A1):c.997-2A>G rs587779602
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp) rs587779673
NM_000093.5(COL5A1):c.1540G>A (p.Gly514Ser) rs878853652
NM_000093.5(COL5A1):c.1780C>T (p.Arg594Ter) rs1554792869
NM_000093.5(COL5A1):c.2153del (p.Gly718fs) rs2132728639
NM_000093.5(COL5A1):c.2987_2988dup (p.Gly997fs)
NM_000093.5(COL5A1):c.3069dup (p.Gly1024fs) rs863223473
NM_000093.5(COL5A1):c.3762del (p.Gly1255fs) rs1057518653
NM_000093.5(COL5A1):c.3983del (p.Pro1328fs) rs1554805638
NM_000093.5(COL5A1):c.4050dup (p.Gly1351fs) rs758337699
NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs) rs863223475
NM_000099.4(CST3):c.281T>A (p.Leu94Gln) rs28939068
NM_000116.5(TAFAZZIN):c.109+5G>A rs2148185111
NM_000116.5(TAFAZZIN):c.109+5G>C rs2148185111
NM_000116.5(TAFAZZIN):c.110-2A>G rs1603376833
NM_000116.5(TAFAZZIN):c.129del (p.Val44fs) rs2148186224
NM_000116.5(TAFAZZIN):c.153C>A (p.Tyr51Ter)
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter) rs104894941
NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)
NM_000116.5(TAFAZZIN):c.238+1del
NM_000116.5(TAFAZZIN):c.238G>A (p.Gly80Arg) rs1557191170
NM_000116.5(TAFAZZIN):c.238G>C (p.Gly80Arg) rs1557191170
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.280C>T (p.Arg94Cys) rs104894942
NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His) rs1060500044
NM_000116.5(TAFAZZIN):c.281G>T (p.Arg94Leu) rs1060500044
NM_000116.5(TAFAZZIN):c.284+110G>A rs1603377747
NM_000116.5(TAFAZZIN):c.293_294insTTAGGACCCC (p.Ala98_Ala99insTer) rs2148191858
NM_000116.5(TAFAZZIN):c.310T>C (p.Phe104Leu) rs397515741
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg) rs104894937
NM_000116.5(TAFAZZIN):c.367C>T (p.Arg123Ter) rs1569552731
NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter) rs1603377945
NM_000116.5(TAFAZZIN):c.461-2A>G rs876661038
NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)
NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)
NM_000116.5(TAFAZZIN):c.536del (p.Pro179fs)
NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)
NM_000116.5(TAFAZZIN):c.562G>T (p.Glu188Ter)
NM_000116.5(TAFAZZIN):c.575del (p.Phe192fs)
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs) rs2148211636
NM_000116.5(TAFAZZIN):c.582G>A (p.Trp194Ter) rs794729167
NM_000116.5(TAFAZZIN):c.583G>T (p.Gly195Ter) rs878853656
NM_000116.5(TAFAZZIN):c.586del (p.Ile196fs)
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.646G>A (p.Gly216Arg) rs1085307797
NM_000116.5(TAFAZZIN):c.647-1G>C rs587776741
NM_000116.5(TAFAZZIN):c.688del (p.Arg230fs) rs1569552936
NM_000116.5(TAFAZZIN):c.697C>T (p.Gln233Ter) rs1603381860
NM_000116.5(TAFAZZIN):c.700-1G>A rs397515747
NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)
NM_000116.5(TAFAZZIN):c.710_711del (p.Val237fs) rs727504394
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.718G>C (p.Gly240Arg) rs387907218
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000116.5(TAFAZZIN):c.811C>T (p.Gln271Ter) rs1298362744
NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)
NM_000117.3(EMD):c.101dup (p.Tyr34Ter) rs1569552079
NM_000117.3(EMD):c.102C>G (p.Tyr34Ter) rs2148128122
NM_000117.3(EMD):c.104AGA[2] (p.Lys37del) rs782507902
NM_000117.3(EMD):c.116_143del (p.Phe39fs) rs1569552080
NM_000117.3(EMD):c.123C>A (p.Tyr41Ter) rs1060502612
NM_000117.3(EMD):c.125del (p.Glu42fs) rs2148128139
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter) rs782011714
NM_000117.3(EMD):c.12C>G (p.Tyr4Ter) rs782011714
NM_000117.3(EMD):c.130C>T (p.Gln44Ter) rs132630262
NM_000117.3(EMD):c.135dup (p.Arg46fs) rs1557182301
NM_000117.3(EMD):c.139_140dup (p.Leu48fs) rs2148128153
NM_000117.3(EMD):c.143dup (p.Ser49fs)
NM_000117.3(EMD):c.153del (p.Ser52fs) rs876661345
NM_000117.3(EMD):c.153dup (p.Ser52fs) rs876661345
NM_000117.3(EMD):c.187+1G>A rs794729010
NM_000117.3(EMD):c.187+1G>T rs794729010
NM_000117.3(EMD):c.187+2T>G
NM_000117.3(EMD):c.188-6A>G rs2148128297
NM_000117.3(EMD):c.1A>G (p.Met1Val) rs267606782
NM_000117.3(EMD):c.217_218dup (p.Met73fs) rs1557182364
NM_000117.3(EMD):c.251_255del (p.Leu84fs) rs782452523
NM_000117.3(EMD):c.256C>T (p.Gln86Ter)
NM_000117.3(EMD):c.262A>T (p.Lys88Ter)
NM_000117.3(EMD):c.266-2A>G rs727503036
NM_000117.3(EMD):c.266-3A>G rs2148128459
NM_000117.3(EMD):c.282C>G (p.Tyr94Ter)
NM_000117.3(EMD):c.2T>G (p.Met1Arg) rs2148127941
NM_000117.3(EMD):c.391_397dup (p.Gln133fs)
NM_000117.3(EMD):c.397C>T (p.Gln133Ter)
NM_000117.3(EMD):c.399+1G>T rs2148128554
NM_000117.3(EMD):c.399+2T>C
NM_000117.3(EMD):c.3G>A (p.Met1Ile) rs886044771
NM_000117.3(EMD):c.430G>T (p.Glu144Ter) rs1557182560
NM_000117.3(EMD):c.449+1G>A rs2148128756
NM_000117.3(EMD):c.450-2A>G rs398123158
NM_000117.3(EMD):c.475_476del (p.Ser159fs) rs2067883871
NM_000117.3(EMD):c.483C>G (p.Tyr161Ter) rs2148128811
NM_000117.3(EMD):c.484C>T (p.Gln162Ter) rs1557182611
NM_000117.3(EMD):c.506_507del (p.Pro169fs) rs1422834817
NM_000117.3(EMD):c.512C>A (p.Ser171Ter) rs886044901
NM_000117.3(EMD):c.545_547del (p.Tyr182_Pro183delinsSer) rs794729019
NM_000117.3(EMD):c.546T>A (p.Tyr182Ter)
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.561_567dup (p.Phe190fs) rs2148128862
NM_000117.3(EMD):c.570del (p.Phe190fs) rs2148128871
NM_000117.3(EMD):c.570dup (p.Met191fs) rs2148128871
NM_000117.3(EMD):c.581C>G (p.Ser194Ter)
NM_000117.3(EMD):c.581_582del (p.Ser194fs) rs1557182654
NM_000117.3(EMD):c.600G>A (p.Trp200Ter) rs1557182661
NM_000117.3(EMD):c.607del (p.Arg203fs) rs1569552106
NM_000117.3(EMD):c.60del (p.Asn20fs) rs886041854
NM_000117.3(EMD):c.615del (p.Ile206fs) rs2148128932
NM_000117.3(EMD):c.619del (p.Arg207fs) rs2067885544
NM_000117.3(EMD):c.621del (p.Pro208fs) rs1557182670
NM_000117.3(EMD):c.631del (p.Arg211fs) rs2148128957
NM_000117.3(EMD):c.640_644dup (p.Gln219fs) rs1557182676
NM_000117.3(EMD):c.643_653dup (p.Gln219fs) rs2148128961
NM_000117.3(EMD):c.643del (p.Ala215fs)
NM_000117.3(EMD):c.650_654del (p.Leu217fs) rs730880352
NM_000117.3(EMD):c.650_654dup (p.Gln219fs) rs730880352
NM_000117.3(EMD):c.651_655dup (p.Gln219fs)
NM_000117.3(EMD):c.674_678del (p.Leu225fs) rs1557182692
NM_000117.3(EMD):c.674del (p.Leu225fs)
NM_000117.3(EMD):c.676_677del (p.Trp226fs)
NM_000117.3(EMD):c.77dup (p.Val27fs) rs2067873691
NM_000117.3(EMD):c.79del (p.Val26_Val27insTer)
NM_000117.3(EMD):c.82+1G>T rs1557182214
NM_000117.3(EMD):c.83-2A>C rs727504901
NM_000117.3:c.55_83del
NM_000118.3(ENG):c.1687delG rs1564452075
NM_000118.3(ENG):c.1689_1699del (p.Glu563Aspfs) rs1830345043
NM_000126.4(ETFA):c.*27_*30del rs2142101078
NM_000126.4(ETFA):c.15_25dup (p.Gln9fs) rs1384386872
NM_000126.4(ETFA):c.177del (p.Lys59fs)
NM_000126.4(ETFA):c.203_204del (p.Leu67_Cys68insTer)
NM_000126.4(ETFA):c.284dup (p.Leu95fs)
NM_000126.4(ETFA):c.285del (p.Ile96fs) rs2039775781
NM_000126.4(ETFA):c.298_325del (p.Gln100fs)
NM_000126.4(ETFA):c.311_312del (p.Asn104fs)
NM_000126.4(ETFA):c.319_322del (p.His107fs) rs866218814
NM_000126.4(ETFA):c.321_322del (p.Ile108fs) rs866218814
NM_000126.4(ETFA):c.322_323del (p.Ile108fs)
NM_000126.4(ETFA):c.369dup (p.Ala124fs)
NM_000126.4(ETFA):c.37dup (p.Ala13fs)
NM_000126.4(ETFA):c.427dup (p.Thr143fs) rs2039717357
NM_000126.4(ETFA):c.44C>A (p.Ser15Ter) rs1047426224
NM_000126.4(ETFA):c.461dup (p.Cys155fs)
NM_000126.4(ETFA):c.478del (p.Asp160fs) rs2039705645
NM_000126.4(ETFA):c.495_496del (p.Ser167fs) rs1298299792
NM_000126.4(ETFA):c.556G>T (p.Glu186Ter)
NM_000126.4(ETFA):c.560del (p.Lys187fs)
NM_000126.4(ETFA):c.593_594del (p.Glu198fs)
NM_000126.4(ETFA):c.597G>A (p.Trp199Ter)
NM_000126.4(ETFA):c.624del (p.Arg209fs) rs1596218695
NM_000126.4(ETFA):c.693dup (p.Lys232Ter) rs754050501
NM_000126.4(ETFA):c.793C>T (p.Gln265Ter) rs757409121
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del) rs779140971
NM_000126.4(ETFA):c.826_833dup (p.Gly279fs)
NM_000126.4(ETFA):c.963+1del rs746488455
NM_000138.3:c.(5065+1_5066-1)_(5545+1_5546-1)del
NM_000138.4(FBN1):c.(?_4473)_(8280_?)del
NM_000138.4(FBN1):c.(?_5475)_(5542_?)del
NM_000138.4(FBN1):c.1888_1889delinsC (p.Asn630fs) rs1060501058
NM_000138.4(FBN1):c.2471_2474delinsAATAAA (p.Ser824_Pro825delinsLysTer) rs1566911724
NM_000138.4(FBN1):c.2682_2692delinsTTTACC (p.Ile895fs) rs1555399095
NM_000138.4(FBN1):c.305_306delinsAA (p.Cys102Ter) rs1555405530
NM_000138.4(FBN1):c.40_49del (p.Phe13_Thr14insTer) rs1597652471
NM_000138.4(FBN1):c.4821delinsCA (p.Asp1608fs) rs1555397007
NM_000138.4(FBN1):c.5225_5249del rs1555396635
NM_000138.4(FBN1):c.5225_5296del rs1566902526
NM_000138.4(FBN1):c.5362_5364delinsGACT (p.Ser1788fs) rs1566901605
NM_000138.4(FBN1):c.5423-?_*2684+?del
NM_000138.4(FBN1):c.5470_5471delinsAT (p.Cys1824Ile) rs1555396205
NM_000138.4(FBN1):c.5593_5594dup (p.Ile1866fs) rs886043709
NM_000138.4(FBN1):c.6038_6163del rs1566897376
NM_000138.4(FBN1):c.6497_6616del rs1566895223
NM_000138.4(FBN1):c.6740_6871del rs1566894226
NM_000138.4(FBN1):c.8051delinsTT (p.Gly2684fs) rs1555393824
NM_000138.5(FBN1):c.1003_1004del (p.Tyr335fs) rs2141336256
NM_000138.5(FBN1):c.1006T>C (p.Cys336Arg) rs1555400612
NM_000138.5(FBN1):c.1010dup (p.Tyr337Ter) rs1566918075
NM_000138.5(FBN1):c.1011C>A (p.Tyr337Ter) rs1057520656
NM_000138.5(FBN1):c.1021_1028del (p.Thr341fs) rs1566918060
NM_000138.5(FBN1):c.1035C>A (p.Cys345Ter) rs1597584082
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter) rs886039550
NM_000138.5(FBN1):c.1051C>T (p.Gln351Ter) rs397515753
NM_000138.5(FBN1):c.1051_1052del (p.Gln351fs) rs2141336143
NM_000138.5(FBN1):c.1061_1067dup (p.Met356fs)
NM_000138.5(FBN1):c.1066del (p.Met356fs) rs1555400609
NM_000138.5(FBN1):c.1067dup (p.Met356fs)
NM_000138.5(FBN1):c.1069C>T (p.Gln357Ter) rs2043846274
NM_000138.5(FBN1):c.1074_1081del (p.Cys358_Asp361delinsTer) rs2141336085
NM_000138.5(FBN1):c.1075_1089del (p.Cys359_Gly363del)
NM_000138.5(FBN1):c.1076G>T (p.Cys359Phe) rs1555400603
NM_000138.5(FBN1):c.1090C>T (p.Arg364Ter) rs794728165
NM_000138.5(FBN1):c.1090del (p.Arg364fs) rs2043845786
NM_000138.5(FBN1):c.1095C>A (p.Cys365Ter) rs397515755
NM_000138.5(FBN1):c.1098G>T (p.Trp366Cys) rs1555400595
NM_000138.5(FBN1):c.1117del (p.Ala373fs)
NM_000138.5(FBN1):c.111del (p.Arg38fs) rs1555407416
NM_000138.5(FBN1):c.112A>T (p.Arg38Ter) rs1355716557
NM_000138.5(FBN1):c.1134del (p.Ile379fs) rs1060501038
NM_000138.5(FBN1):c.1138A>T (p.Arg380Ter) rs1566917979
NM_000138.5(FBN1):c.1147G>A (p.Glu383Lys) rs794728325
NM_000138.5(FBN1):c.1147G>T (p.Glu383Ter) rs794728325
NM_000138.5(FBN1):c.1148-2A>G rs397515756
NM_000138.5(FBN1):c.114del (p.Ala39fs)
NM_000138.5(FBN1):c.1155_1165del (p.Phe385fs)
NM_000138.5(FBN1):c.1156_1167del (p.Asn386_Cys389del) rs672601352
NM_000138.5(FBN1):c.1165dup (p.Cys389fs)
NM_000138.5(FBN1):c.1185dup (p.Pro396fs) rs2043801575
NM_000138.5(FBN1):c.1188_1206del (p.Gly397fs)
NM_000138.5(FBN1):c.1191dup (p.Arg398fs) rs886038972
NM_000138.5(FBN1):c.1192A>T (p.Arg398Ter) rs397515754
NM_000138.5(FBN1):c.1200del (p.Glu400fs)
NM_000138.5(FBN1):c.1216del (p.Gly407fs) rs2141331057
NM_000138.5(FBN1):c.1220del (p.Gly407fs)
NM_000138.5(FBN1):c.1245del (p.Pro416fs) rs2141331000
NM_000138.5(FBN1):c.124del (p.Ala42fs) rs1555407414
NM_000138.5(FBN1):c.126del (p.Lys43fs) rs1566944839
NM_000138.5(FBN1):c.1270C>T (p.Gln424Ter) rs1439533354
NM_000138.5(FBN1):c.127A>T (p.Lys43Ter) rs751270801
NM_000138.5(FBN1):c.1285C>T (p.Arg429Ter) rs112645512
NM_000138.5(FBN1):c.1287dup (p.Pro430fs) rs1555400410
NM_000138.5(FBN1):c.1299dup (p.Tyr434fs) rs2141330877
NM_000138.5(FBN1):c.1302T>A (p.Tyr434Ter) rs1566916969
NM_000138.5(FBN1):c.1318G>T (p.Glu440Ter) rs1555400406
NM_000138.5(FBN1):c.1328-1G>A
NM_000138.5(FBN1):c.1335dup (p.Pro446fs) rs730880356
NM_000138.5(FBN1):c.1338del (p.Pro446_Val447insTer)
NM_000138.5(FBN1):c.1360C>T (p.Gln454Ter) rs1555400387
NM_000138.5(FBN1):c.1391del (p.Arg464fs) rs1555400385
NM_000138.5(FBN1):c.1400dup (p.Thr468fs) rs1597580984
NM_000138.5(FBN1):c.1410del (p.Ser471fs) rs1555400383
NM_000138.5(FBN1):c.1421G>T (p.Cys474Phe) rs794728166
NM_000138.5(FBN1):c.1422del (p.Cys474fs) rs1555400379
NM_000138.5(FBN1):c.1426T>G (p.Cys476Gly) rs794728326
NM_000138.5(FBN1):c.1427G>A (p.Cys476Tyr) rs2043792070
NM_000138.5(FBN1):c.1427dup (p.Cys476fs)
NM_000138.5(FBN1):c.1428C>G (p.Cys476Trp)
NM_000138.5(FBN1):c.1443dup (p.Leu482fs)
NM_000138.5(FBN1):c.1453C>T (p.Arg485Cys) rs137854485
NM_000138.5(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.5(FBN1):c.1463G>A (p.Cys488Tyr) rs1555400372
NM_000138.5(FBN1):c.1464dup (p.Ile489fs)
NM_000138.5(FBN1):c.1468+1G>A rs2141329822
NM_000138.5(FBN1):c.1468+1G>C
NM_000138.5(FBN1):c.1468+1G>T
NM_000138.5(FBN1):c.1468+2T>C rs794728167
NM_000138.5(FBN1):c.1468+2T>G rs794728167
NM_000138.5(FBN1):c.1468+5G>A rs397515757
NM_000138.5(FBN1):c.1468G>T (p.Asp490Tyr) rs1555400371
NM_000138.5(FBN1):c.1479del (p.Glu493fs)
NM_000138.5(FBN1):c.1480T>C (p.Cys494Arg)
NM_000138.5(FBN1):c.1481G>A (p.Cys494Tyr) rs1057518881
NM_000138.5(FBN1):c.1482T>G (p.Cys494Trp)
NM_000138.5(FBN1):c.1485dup (p.Lys496fs)
NM_000138.5(FBN1):c.1490del (p.Asn497fs)
NM_000138.5(FBN1):c.1494del (p.Cys499fs)
NM_000138.5(FBN1):c.1495T>A (p.Cys499Ser) rs2043778680
NM_000138.5(FBN1):c.1495T>C (p.Cys499Arg)
NM_000138.5(FBN1):c.1495del (p.Cys499fs)
NM_000138.5(FBN1):c.1496G>A (p.Cys499Tyr) rs587782944
NM_000138.5(FBN1):c.1505del (p.Gly502fs) rs2141327834
NM_000138.5(FBN1):c.1510T>A (p.Cys504Ser) rs1555400288
NM_000138.5(FBN1):c.1510T>C (p.Cys504Arg) rs1555400288
NM_000138.5(FBN1):c.1511G>A (p.Cys504Tyr) rs1156747241
NM_000138.5(FBN1):c.1512T>A (p.Cys504Ter) rs1555400285
NM_000138.5(FBN1):c.1513_1520del (p.Ile505fs) rs2141327809
NM_000138.5(FBN1):c.1520del (p.Asn507fs)
NM_000138.5(FBN1):c.1522C>T (p.Gln508Ter) rs1057521859
NM_000138.5(FBN1):c.1526del (p.Gly509fs)
NM_000138.5(FBN1):c.1537T>C (p.Cys513Arg) rs1555400279
NM_000138.5(FBN1):c.1537dup (p.Cys513fs) rs1597579948
NM_000138.5(FBN1):c.1538G>T (p.Cys513Phe) rs1060501036
NM_000138.5(FBN1):c.1540C>T (p.Gln514Ter) rs2141327746
NM_000138.5(FBN1):c.1546C>T (p.Arg516Ter) rs113812345
NM_000138.5(FBN1):c.1552G>T (p.Gly518Ter) rs794728168
NM_000138.5(FBN1):c.1556A>G (p.Tyr519Cys) rs1555400278
NM_000138.5(FBN1):c.1558C>T (p.Gln520Ter) rs1597579923
NM_000138.5(FBN1):c.1570_1571del (p.Thr524fs) rs2043777735
NM_000138.5(FBN1):c.1570dup (p.Thr524fs) rs1555400274
NM_000138.5(FBN1):c.1571del (p.Thr524fs) rs886038817
NM_000138.5(FBN1):c.1572del (p.Arg525fs) rs1060501096
NM_000138.5(FBN1):c.1575del (p.Thr526fs) rs1555400268
NM_000138.5(FBN1):c.1576del (p.Thr526fs)
NM_000138.5(FBN1):c.1579G>T (p.Glu527Ter) rs1555400267
NM_000138.5(FBN1):c.1584C>A (p.Cys528Ter)
NM_000138.5(FBN1):c.1585C>T (p.Arg529Ter) rs137854476
NM_000138.5(FBN1):c.1589-1G>A rs1555400077
NM_000138.5(FBN1):c.1589-1G>C
NM_000138.5(FBN1):c.1589A>G (p.Asp530Gly) rs794728171
NM_000138.5(FBN1):c.1597G>T (p.Glu533Ter)
NM_000138.5(FBN1):c.1600T>G (p.Cys534Gly)
NM_000138.5(FBN1):c.1601G>A (p.Cys534Tyr) rs397515759
NM_000138.5(FBN1):c.1601G>C (p.Cys534Ser) rs397515759
NM_000138.5(FBN1):c.1606C>T (p.Gln536Ter) rs1479709398
NM_000138.5(FBN1):c.1621T>G (p.Cys541Gly) rs111396594
NM_000138.5(FBN1):c.1622G>A (p.Cys541Tyr) rs1555400064
NM_000138.5(FBN1):c.1630G>A (p.Gly544Arg) rs1555400063
NM_000138.5(FBN1):c.1630G>C (p.Gly544Arg) rs1555400063
NM_000138.5(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.5(FBN1):c.1638C>A (p.Cys546Ter) rs2141323411
NM_000138.5(FBN1):c.164+1G>A rs794728213
NM_000138.5(FBN1):c.164+1del rs1555407399
NM_000138.5(FBN1):c.1643A>T (p.Asn548Ile) rs137854462
NM_000138.5(FBN1):c.1646_1649delinsGT (p.Thr549fs) rs1597577975
NM_000138.5(FBN1):c.165-1G>C
NM_000138.5(FBN1):c.165-2A>C rs754351718
NM_000138.5(FBN1):c.1659del (p.His554fs) rs1566915277
NM_000138.5(FBN1):c.1663T>C (p.Cys555Arg) rs2043746138
NM_000138.5(FBN1):c.1664G>A (p.Cys555Tyr) rs794728172
NM_000138.5(FBN1):c.1664G>T (p.Cys555Phe) rs794728172
NM_000138.5(FBN1):c.1665C>A (p.Cys555Ter) rs531101773
NM_000138.5(FBN1):c.1667_1677del (p.Val556fs)
NM_000138.5(FBN1):c.1670G>A (p.Cys557Tyr) rs1057521102
NM_000138.5(FBN1):c.1670G>T (p.Cys557Phe) rs1057521102
NM_000138.5(FBN1):c.1678G>A (p.Gly560Ser) rs1064794283
NM_000138.5(FBN1):c.1679G>A (p.Gly560Asp) rs1555400052
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val) rs1555400052
NM_000138.5(FBN1):c.1690dup (p.Thr564fs)
NM_000138.5(FBN1):c.169A>G (p.Asn57Asp) rs2044669685
NM_000138.5(FBN1):c.1708T>C (p.Cys570Arg) rs113902534
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr) rs1555400049
NM_000138.5(FBN1):c.1709G>C (p.Cys570Ser) rs1555400049
NM_000138.5(FBN1):c.1709del (p.Cys570fs) rs193922182
NM_000138.5(FBN1):c.1710T>A (p.Cys570Ter) rs193922183
NM_000138.5(FBN1):c.1710T>G (p.Cys570Trp) rs193922183
NM_000138.5(FBN1):c.1715-1G>A rs1555399977
NM_000138.5(FBN1):c.1715-2A>G rs2043733370
NM_000138.5(FBN1):c.1720del (p.Asp574fs) rs2141321697
NM_000138.5(FBN1):c.1726T>G (p.Cys576Gly) rs794728174
NM_000138.5(FBN1):c.1727G>A (p.Cys576Tyr) rs1555399974
NM_000138.5(FBN1):c.1728C>G (p.Cys576Trp) rs2043733087
NM_000138.5(FBN1):c.1744T>C (p.Cys582Arg) rs2141321636
NM_000138.5(FBN1):c.1744T>G (p.Cys582Gly)
NM_000138.5(FBN1):c.1759T>C (p.Cys587Arg) rs1555399968
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly) rs1555399968
NM_000138.5(FBN1):c.175T>C (p.Cys59Arg) rs2140737589
NM_000138.5(FBN1):c.1760G>A (p.Cys587Tyr) rs1555399963
NM_000138.5(FBN1):c.1761T>G (p.Cys587Trp)
NM_000138.5(FBN1):c.1766A>G (p.Asn589Ser) rs1555399962
NM_000138.5(FBN1):c.176del (p.Cys59fs) rs1597633219
NM_000138.5(FBN1):c.177T>A (p.Cys59Ter) rs2044669557
NM_000138.5(FBN1):c.1782_1783insSVAelement
NM_000138.5(FBN1):c.1782del (p.Phe594fs) rs1597577114
NM_000138.5(FBN1):c.1786T>C (p.Cys596Arg) rs1057520131
NM_000138.5(FBN1):c.1786T>G (p.Cys596Gly) rs1057520131
NM_000138.5(FBN1):c.1787G>A (p.Cys596Tyr) rs2043732180
NM_000138.5(FBN1):c.1788T>A (p.Cys596Ter) rs2141321569
NM_000138.5(FBN1):c.1792T>C (p.Cys598Arg)
NM_000138.5(FBN1):c.1792T>G (p.Cys598Gly) rs2141321553
NM_000138.5(FBN1):c.1792del (p.Cys598fs) rs2141321558
NM_000138.5(FBN1):c.1793G>C (p.Cys598Ser) rs1555399955
NM_000138.5(FBN1):c.1793G>T (p.Cys598Phe) rs1555399955
NM_000138.5(FBN1):c.1794C>G (p.Cys598Trp) rs1555399954
NM_000138.5(FBN1):c.1801G>T (p.Gly601Ter) rs1555399953
NM_000138.5(FBN1):c.1809del (p.Gln603fs)
NM_000138.5(FBN1):c.1817C>G (p.Ser606Ter) rs794728176
NM_000138.5(FBN1):c.1822G>T (p.Gly608Ter)
NM_000138.5(FBN1):c.1823del (p.Gly608fs) rs1555399949
NM_000138.5(FBN1):c.182C>G (p.Ser61Ter)
NM_000138.5(FBN1):c.1831T>C (p.Cys611Arg) rs1555399944
NM_000138.5(FBN1):c.1837+1G>A rs397515762
NM_000138.5(FBN1):c.1837+1G>T rs397515762
NM_000138.5(FBN1):c.1837+2T>C rs1555399940
NM_000138.5(FBN1):c.1837+5G>A rs1445085747
NM_000138.5(FBN1):c.1837G>A (p.Asp613Asn) rs1555399943
NM_000138.5(FBN1):c.1838-2A>G rs2141317516
NM_000138.5(FBN1):c.1839_1840delinsGAAGGT (p.Asp613fs) rs1555399839
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys) rs397515764
NM_000138.5(FBN1):c.1846G>T (p.Glu616Ter) rs397515764
NM_000138.5(FBN1):c.1847A>G (p.Glu616Gly) rs25457
NM_000138.5(FBN1):c.1847del (p.Glu616fs) rs2141317487
NM_000138.5(FBN1):c.1849T>C (p.Cys617Arg) rs1060501017
NM_000138.5(FBN1):c.1849T>G (p.Cys617Gly) rs1060501017
NM_000138.5(FBN1):c.184C>T (p.Arg62Cys) rs25403
NM_000138.5(FBN1):c.1850G>A (p.Cys617Tyr) rs1555399836
NM_000138.5(FBN1):c.1850G>C (p.Cys617Ser) rs1555399836
NM_000138.5(FBN1):c.1852dup (p.Glu618fs) rs1555399835
NM_000138.5(FBN1):c.1855del (p.Thr619fs) rs2141317454
NM_000138.5(FBN1):c.1859del (p.Pro620fs)
NM_000138.5(FBN1):c.1860del (p.Ile622fs) rs2141317442
NM_000138.5(FBN1):c.1867_1868delinsCT (p.Cys623Leu) rs2043697829
NM_000138.5(FBN1):c.1868G>A (p.Cys623Tyr) rs1566914030
NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe) rs1566914030
NM_000138.5(FBN1):c.1875_1876inv (p.Gly626Arg)
NM_000138.5(FBN1):c.1878del (p.Arg627fs)
NM_000138.5(FBN1):c.1882T>C (p.Cys628Arg) rs2141317350
NM_000138.5(FBN1):c.1883G>A (p.Cys628Tyr) rs1555399825
NM_000138.5(FBN1):c.1883G>T (p.Cys628Phe) rs1555399825
NM_000138.5(FBN1):c.1884C>G (p.Cys628Trp) rs150421653
NM_000138.5(FBN1):c.188A>G (p.Tyr63Cys) rs1303389437
NM_000138.5(FBN1):c.1891A>C (p.Thr631Pro) rs2043697314
NM_000138.5(FBN1):c.1891del (p.Thr631fs)
NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter) rs1597633183
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.1910G>A (p.Cys637Tyr) rs1478695794
NM_000138.5(FBN1):c.1910G>C (p.Cys637Ser) rs1478695794
NM_000138.5(FBN1):c.1915T>A (p.Cys639Ser) rs1060501078
NM_000138.5(FBN1):c.1915T>C (p.Cys639Arg) rs1060501078
NM_000138.5(FBN1):c.1916G>T (p.Cys639Phe) rs878853676
NM_000138.5(FBN1):c.1936_1951dup (p.Val651fs) rs2141317141
NM_000138.5(FBN1):c.1942del (p.Asp648fs)
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.5(FBN1):c.1948del (p.Arg650fs) rs1566913982
NM_000138.5(FBN1):c.1954T>C (p.Cys652Arg) rs2043696438
NM_000138.5(FBN1):c.1955G>A (p.Cys652Tyr) rs2043696418
NM_000138.5(FBN1):c.1956T>G (p.Cys652Trp) rs1566913974
NM_000138.5(FBN1):c.1957_1958dup (p.Asp654fs) rs886041350
NM_000138.5(FBN1):c.1960+1G>C rs1555399804
NM_000138.5(FBN1):c.1961-1G>A rs2043686634
NM_000138.5(FBN1):c.1968_1969del (p.Met657fs) rs1555399775
NM_000138.5(FBN1):c.1969_1970del (p.Met657fs) rs2141315944
NM_000138.5(FBN1):c.1981dup (p.Cys661fs) rs2043686222
NM_000138.5(FBN1):c.1982G>A (p.Cys661Tyr) rs1060501086
NM_000138.5(FBN1):c.1983C>G (p.Cys661Trp) rs765018527
NM_000138.5(FBN1):c.198C>G (p.Tyr66Ter) rs2044669179
NM_000138.5(FBN1):c.1995C>A (p.Tyr665Ter) rs2141315893
NM_000138.5(FBN1):c.1995C>G (p.Tyr665Ter) rs2141315893
NM_000138.5(FBN1):c.1999A>T (p.Arg667Ter) rs2043685929
NM_000138.5(FBN1):c.199T>C (p.Cys67Arg) rs2140737496
NM_000138.5(FBN1):c.1A>C (p.Met1Leu) rs730880097
NM_000138.5(FBN1):c.1A>G (p.Met1Val) rs730880097
NM_000138.5(FBN1):c.1A>T (p.Met1Leu) rs730880097
NM_000138.5(FBN1):c.2003delinsTGTAT (p.Gly668fs) rs1555399770
NM_000138.5(FBN1):c.2005C>T (p.Gln669Ter)
NM_000138.5(FBN1):c.2009_2018delinsTTGGTGCT (p.Cys670fs)
NM_000138.5(FBN1):c.200G>T (p.Cys67Phe) rs2044669166
NM_000138.5(FBN1):c.2021del (p.Leu674fs)
NM_000138.5(FBN1):c.2023_2026del (p.Phe675fs) rs886041349
NM_000138.5(FBN1):c.2028_2029insA (p.Ala677fs) rs1060501027
NM_000138.5(FBN1):c.202dup (p.Cys68fs)
NM_000138.5(FBN1):c.203G>A (p.Cys68Tyr) rs1597633163
NM_000138.5(FBN1):c.203G>T (p.Cys68Phe) rs1597633163
NM_000138.5(FBN1):c.2049C>G (p.Cys683Trp)
NM_000138.5(FBN1):c.2050T>C (p.Cys684Arg) rs1555399764
NM_000138.5(FBN1):c.2051G>A (p.Cys684Tyr) rs1555399763
NM_000138.5(FBN1):c.2051G>T (p.Cys684Phe) rs1555399763
NM_000138.5(FBN1):c.2053T>A (p.Cys685Ser) rs1597574236
NM_000138.5(FBN1):c.2054G>A (p.Cys685Tyr) rs1555399761
NM_000138.5(FBN1):c.2054dup (p.Cys685fs) rs2141315799
NM_000138.5(FBN1):c.2055C>G (p.Cys685Trp) rs140603
NM_000138.5(FBN1):c.2063_2064del (p.Thr688fs)
NM_000138.5(FBN1):c.2071G>C (p.Ala691Pro) rs794728183
NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter) rs1060501024
NM_000138.5(FBN1):c.2087del (p.Cys696fs) rs2043684490
NM_000138.5(FBN1):c.2088C>A (p.Cys696Ter) rs2141315709
NM_000138.5(FBN1):c.2089C>T (p.Gln697Ter) rs1060501082
NM_000138.5(FBN1):c.2099del (p.Pro700fs) rs1597574166
NM_000138.5(FBN1):c.2111C>G (p.Ser704Ter) rs2043683891
NM_000138.5(FBN1):c.2113+1G>A rs1566913670
NM_000138.5(FBN1):c.2113+1G>C rs1566913670
NM_000138.5(FBN1):c.2113+1G>T rs1566913670
NM_000138.5(FBN1):c.2113+2T>G rs730880105
NM_000138.5(FBN1):c.2113G>A (p.Ala705Thr) rs1597574156
NM_000138.5(FBN1):c.2114-1G>A
NM_000138.5(FBN1):c.2114-1G>C rs1555399484
NM_000138.5(FBN1):c.2114-2A>C rs886041440
NM_000138.5(FBN1):c.2116G>T (p.Glu706Ter) rs2141308933
NM_000138.5(FBN1):c.211T>A (p.Trp71Arg) rs1555405658
NM_000138.5(FBN1):c.211T>C (p.Trp71Arg) rs1555405658
NM_000138.5(FBN1):c.2121T>A (p.Tyr707Ter)
NM_000138.5(FBN1):c.2130dup (p.Cys711fs) rs1597571391
NM_000138.5(FBN1):c.2131T>A (p.Cys711Ser) rs1555399481
NM_000138.5(FBN1):c.2131T>C (p.Cys711Arg) rs1555399481
NM_000138.5(FBN1):c.2132G>A (p.Cys711Tyr)
NM_000138.5(FBN1):c.2132G>T (p.Cys711Phe)
NM_000138.5(FBN1):c.213G>A (p.Trp71Ter)
NM_000138.5(FBN1):c.2143_2161del (p.Pro715fs) rs1597571360
NM_000138.5(FBN1):c.2149_2150insGA (p.Met717fs) rs2043633143
NM_000138.5(FBN1):c.2150_2153delinsGTG (p.Met717fs)
NM_000138.5(FBN1):c.2167+1G>A rs2141308781
NM_000138.5(FBN1):c.2168-1G>C rs1555399387
NM_000138.5(FBN1):c.2168-1G>T rs1555399387
NM_000138.5(FBN1):c.2168-2A>G rs1555399388
NM_000138.5(FBN1):c.2168A>C (p.Asp723Ala) rs137854463
NM_000138.5(FBN1):c.2171T>A (p.Ile724Lys)
NM_000138.5(FBN1):c.2176G>C (p.Glu726Gln) rs2141306581
NM_000138.5(FBN1):c.2177A>G (p.Glu726Gly)
NM_000138.5(FBN1):c.2179T>A (p.Cys727Ser) rs1064794025
NM_000138.5(FBN1):c.217del (p.Thr73fs) rs2140737430
NM_000138.5(FBN1):c.2180G>A (p.Cys727Tyr) rs1555399381
NM_000138.5(FBN1):c.2213dup (p.Cys739fs) rs1555399379
NM_000138.5(FBN1):c.2214_2217del (p.Ile738fs)
NM_000138.5(FBN1):c.2217T>G (p.Cys739Trp) rs1008275504
NM_000138.5(FBN1):c.2222del (p.Asn741fs)
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys) rs1555399372
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg) rs397515765
NM_000138.5(FBN1):c.2243G>A (p.Cys748Tyr) rs1064794282
NM_000138.5(FBN1):c.2243del (p.Cys748fs) rs1555399371
NM_000138.5(FBN1):c.2248T>C (p.Cys750Arg) rs1555399368
NM_000138.5(FBN1):c.2249G>A (p.Cys750Tyr) rs2043616369
NM_000138.5(FBN1):c.2249G>T (p.Cys750Phe)
NM_000138.5(FBN1):c.2258G>T (p.Gly753Val) rs1555399365
NM_000138.5(FBN1):c.2261A>G (p.Tyr754Cys) rs137854479
NM_000138.5(FBN1):c.2269del (p.Asp757fs) rs1064793636
NM_000138.5(FBN1):c.2273C>G (p.Ser758Ter)
NM_000138.5(FBN1):c.2287T>G (p.Cys763Gly) rs1555399361
NM_000138.5(FBN1):c.2289C>A (p.Cys763Ter)
NM_000138.5(FBN1):c.2292del (p.Asp765fs) rs2141306307
NM_000138.5(FBN1):c.2293+1G>A rs1060501092
NM_000138.5(FBN1):c.2296del (p.Ile766fs) rs2141305162
NM_000138.5(FBN1):c.2298_2301del (p.Ile766fs) rs1555399281
NM_000138.5(FBN1):c.2302G>T (p.Glu768Ter)
NM_000138.5(FBN1):c.2305T>C (p.Cys769Arg) rs1060501022
NM_000138.5(FBN1):c.2305_2315del (p.Cys769fs) rs1566911957
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr) rs794728190
NM_000138.5(FBN1):c.2307T>G (p.Cys769Trp) rs2141305134
NM_000138.5(FBN1):c.2327G>A (p.Cys776Tyr) rs1555399273
NM_000138.5(FBN1):c.2340del (p.Gln780fs) rs1566911942
NM_000138.5(FBN1):c.2341T>A (p.Cys781Ser) rs397515766
NM_000138.5(FBN1):c.2341T>C (p.Cys781Arg) rs397515766
NM_000138.5(FBN1):c.2342G>A (p.Cys781Tyr) rs1555399271
NM_000138.5(FBN1):c.2343T>G (p.Cys781Trp)
NM_000138.5(FBN1):c.2368T>C (p.Cys790Arg) rs1555399270
NM_000138.5(FBN1):c.2368T>G (p.Cys790Gly)
NM_000138.5(FBN1):c.2369G>A (p.Cys790Tyr) rs193922188
NM_000138.5(FBN1):c.2369G>T (p.Cys790Phe) rs193922188
NM_000138.5(FBN1):c.236dup (p.Cys80fs) rs1566938153
NM_000138.5(FBN1):c.2375G>A (p.Cys792Tyr) rs886038984
NM_000138.5(FBN1):c.2379dup (p.Lys794fs) rs1597569589
NM_000138.5(FBN1):c.2384del (p.Gly795fs) rs1566911908
NM_000138.5(FBN1):c.238T>C (p.Cys80Arg) rs111764111
NM_000138.5(FBN1):c.239G>A (p.Cys80Tyr) rs397515767
NM_000138.5(FBN1):c.2407A>T (p.Lys803Ter) rs397515768
NM_000138.5(FBN1):c.2408_2412dup (p.Cys805fs)
NM_000138.5(FBN1):c.2410dup (p.Thr804fs) rs1597569560
NM_000138.5(FBN1):c.2412_2413del (p.Thr804_Cys805insTer) rs397515769
NM_000138.5(FBN1):c.2413T>C (p.Cys805Arg) rs2043606316
NM_000138.5(FBN1):c.2414G>A (p.Cys805Tyr) rs1597569553
NM_000138.5(FBN1):c.2415T>G (p.Cys805Trp) rs1597569551
NM_000138.5(FBN1):c.2419+2T>G rs1597569536
NM_000138.5(FBN1):c.2422del (p.Ile808fs)
NM_000138.5(FBN1):c.2428G>T (p.Glu810Ter)
NM_000138.5(FBN1):c.2431T>C (p.Cys811Arg)
NM_000138.5(FBN1):c.2432G>A (p.Cys811Tyr) rs1555399210
NM_000138.5(FBN1):c.2433C>A (p.Cys811Ter) rs193921256
NM_000138.5(FBN1):c.2433C>G (p.Cys811Trp) rs193921256
NM_000138.5(FBN1):c.2434G>T (p.Glu812Ter) rs201778577
NM_000138.5(FBN1):c.2438C>G (p.Ser813Ter) rs1597569265
NM_000138.5(FBN1):c.2446T>C (p.Cys816Arg) rs1555399206
NM_000138.5(FBN1):c.2447G>A (p.Cys816Tyr)
NM_000138.5(FBN1):c.2462G>A (p.Cys821Tyr) rs2043600123
NM_000138.5(FBN1):c.247+1G>A rs25404
NM_000138.5(FBN1):c.247+1G>T rs25404
NM_000138.5(FBN1):c.2483_2500del (p.Phe828_Ser833del) rs2141304189
NM_000138.5(FBN1):c.2489G>A (p.Cys830Tyr) rs397515774
NM_000138.5(FBN1):c.2489G>C (p.Cys830Ser) rs397515774
NM_000138.5(FBN1):c.2489G>T (p.Cys830Phe)
NM_000138.5(FBN1):c.2489_2492del (p.Cys830fs) rs2141304207
NM_000138.5(FBN1):c.2494T>C (p.Cys832Arg)
NM_000138.5(FBN1):c.2495G>A (p.Cys832Tyr) rs397515775
NM_000138.5(FBN1):c.2495G>C (p.Cys832Ser) rs397515775
NM_000138.5(FBN1):c.2495G>T (p.Cys832Phe) rs397515775
NM_000138.5(FBN1):c.2496T>G (p.Cys832Trp) rs397515776
NM_000138.5(FBN1):c.2506del (p.Ser836fs) rs1566911709
NM_000138.5(FBN1):c.2513del (p.Leu838fs) rs2141304158
NM_000138.5(FBN1):c.2524A>T (p.Lys842Ter) rs886038941
NM_000138.5(FBN1):c.2527del (p.Thr843fs) rs2043598968
NM_000138.5(FBN1):c.2539+1G>A rs794728192
NM_000138.5(FBN1):c.2539+1G>C rs794728192
NM_000138.5(FBN1):c.2539+2T>G rs1597569159
NM_000138.5(FBN1):c.254G>A (p.Cys85Tyr)
NM_000138.5(FBN1):c.2554_2555dup (p.Cys853fs) rs1555399166
NM_000138.5(FBN1):c.2557T>C (p.Cys853Arg) rs1555399165
NM_000138.5(FBN1):c.2559C>A (p.Cys853Ter) rs111981744
NM_000138.5(FBN1):c.255C>A (p.Cys85Ter) rs1555405536
NM_000138.5(FBN1):c.2561G>A (p.Trp854Ter) rs1597568968
NM_000138.5(FBN1):c.2562G>A (p.Trp854Ter) rs1555399164
NM_000138.5(FBN1):c.2563C>T (p.Gln855Ter) rs1057519502
NM_000138.5(FBN1):c.256del (p.Arg86fs)
NM_000138.5(FBN1):c.2581C>T (p.Arg861Ter) rs140583
NM_000138.5(FBN1):c.2584T>A (p.Cys862Ser) rs2043595650
NM_000138.5(FBN1):c.2584T>C (p.Cys862Arg) rs2043595650
NM_000138.5(FBN1):c.2585G>A (p.Cys862Tyr) rs1555399162
NM_000138.5(FBN1):c.2586dup (p.Glu863Ter) rs1555399160
NM_000138.5(FBN1):c.258_260delinsCT (p.His87fs) rs1555405534
NM_000138.5(FBN1):c.2615del (p.Lys872fs)
NM_000138.5(FBN1):c.2623T>A (p.Cys875Ser) rs1597568880
NM_000138.5(FBN1):c.2626T>C (p.Cys876Arg) rs1555399158
NM_000138.5(FBN1):c.2627G>A (p.Cys876Tyr) rs794728193
NM_000138.5(FBN1):c.2627_2628insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGTCCCAGTGCTG (p.Cys876fs)
NM_000138.5(FBN1):c.2628C>G (p.Cys876Trp) rs112085967
NM_000138.5(FBN1):c.2629_2645dup (p.Trp883fs)
NM_000138.5(FBN1):c.2636T>C (p.Leu879Pro)
NM_000138.5(FBN1):c.2638G>A (p.Gly880Ser) rs794728194
NM_000138.5(FBN1):c.2638G>C (p.Gly880Arg) rs794728194
NM_000138.5(FBN1):c.2644G>A (p.Ala882Thr) rs2043594915
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2647T>C (p.Trp883Arg) rs1555399150
NM_000138.5(FBN1):c.2648G>A (p.Trp883Ter) rs2141303557
NM_000138.5(FBN1):c.2649G>A (p.Trp883Ter) rs1597568822
NM_000138.5(FBN1):c.2651G>A (p.Gly884Glu) rs1555399149
NM_000138.5(FBN1):c.2657C>T (p.Pro886Leu) rs1060501083
NM_000138.5(FBN1):c.2657_2667del (p.Pro886fs) rs1555399146
NM_000138.5(FBN1):c.2659T>A (p.Cys887Ser) rs2141303537
NM_000138.5(FBN1):c.2660G>A (p.Cys887Tyr) rs2043594601
NM_000138.5(FBN1):c.2660G>C (p.Cys887Ser)
NM_000138.5(FBN1):c.2665del (p.Leu889fs) rs1555399147
NM_000138.5(FBN1):c.266G>A (p.Cys89Tyr) rs112660651
NM_000138.5(FBN1):c.266G>T (p.Cys89Phe) rs112660651
NM_000138.5(FBN1):c.2673A>G (p.Gln891=) rs1555399143
NM_000138.5(FBN1):c.2677+1del rs2141303466
NM_000138.5(FBN1):c.2678-15C>A rs181681840
NM_000138.5(FBN1):c.2678-1G>T
NM_000138.5(FBN1):c.2678-2A>G rs1555399101
NM_000138.5(FBN1):c.2682_2685del (p.Ile895fs) rs2141302451
NM_000138.5(FBN1):c.2682del (p.Ile895fs) rs193922194
NM_000138.5(FBN1):c.2685dup (p.Cys896fs)
NM_000138.5(FBN1):c.2686T>C (p.Cys896Arg) rs2043584517
NM_000138.5(FBN1):c.2687G>A (p.Cys896Tyr) rs2141302442
NM_000138.5(FBN1):c.2696_2697dup (p.Tyr900fs) rs2141302411
NM_000138.5(FBN1):c.2719C>T (p.Gln907Ter) rs1597568290
NM_000138.5(FBN1):c.2722T>C (p.Cys908Arg) rs1060501021
NM_000138.5(FBN1):c.2723G>A (p.Cys908Tyr) rs1057523406
NM_000138.5(FBN1):c.2728+1G>C rs794728322
NM_000138.5(FBN1):c.2729-1G>A rs1487002781
NM_000138.5(FBN1):c.2729-2A>G rs113813525
NM_000138.5(FBN1):c.2737G>T (p.Glu913Ter) rs1555398996
NM_000138.5(FBN1):c.2740T>C (p.Cys914Arg) rs1555398994
NM_000138.5(FBN1):c.2741G>A (p.Cys914Tyr) rs2141300503
NM_000138.5(FBN1):c.2745del (p.Val916fs) rs2043569925
NM_000138.5(FBN1):c.2753del (p.Pro918fs)
NM_000138.5(FBN1):c.2761T>C (p.Cys921Arg) rs1597567249
NM_000138.5(FBN1):c.2762G>A (p.Cys921Tyr) rs2141300460
NM_000138.5(FBN1):c.2764A>T (p.Lys922Ter) rs2141300454
NM_000138.5(FBN1):c.2768del (p.Asn923fs) rs1597567246
NM_000138.5(FBN1):c.2776T>C (p.Cys926Arg) rs2141300401
NM_000138.5(FBN1):c.2777G>A (p.Cys926Tyr) rs1555398989
NM_000138.5(FBN1):c.2777G>C (p.Cys926Ser) rs1555398989
NM_000138.5(FBN1):c.2783del (p.Asn928fs)
NM_000138.5(FBN1):c.2786_2789dup (p.Arg930delinsSerTer) rs794728305
NM_000138.5(FBN1):c.2793del (p.Ser932fs) rs778900586
NM_000138.5(FBN1):c.2795C>G (p.Ser932Ter)
NM_000138.5(FBN1):c.2806C>T (p.Gln936Ter) rs794728197
NM_000138.5(FBN1):c.2814del (p.Ser939fs) rs1131691766
NM_000138.5(FBN1):c.281G>A (p.Cys94Tyr)
NM_000138.5(FBN1):c.2848T>C (p.Cys950Arg) rs2141300266
NM_000138.5(FBN1):c.2849G>C (p.Cys950Ser) rs1555398974
NM_000138.5(FBN1):c.2849G>T (p.Cys950Phe) rs1555398974
NM_000138.5(FBN1):c.284C>A (p.Ser95Ter) rs922684362
NM_000138.5(FBN1):c.2850T>A (p.Cys950Ter)
NM_000138.5(FBN1):c.2854+1G>A
NM_000138.5(FBN1):c.2854+1G>T rs112809590
NM_000138.5(FBN1):c.2854+2T>C rs2043568077
NM_000138.5(FBN1):c.2854G>A (p.Asp952Asn) rs2141300251
NM_000138.5(FBN1):c.2855-1G>A rs112202622
NM_000138.5(FBN1):c.2855-2A>G rs2141297577
NM_000138.5(FBN1):c.2857dup (p.Ile953fs) rs1555398837
NM_000138.5(FBN1):c.2858del (p.Ile953fs) rs1555398836
NM_000138.5(FBN1):c.2860C>T (p.Arg954Cys) rs1555398835
NM_000138.5(FBN1):c.2861G>A (p.Arg954His) rs112911555
NM_000138.5(FBN1):c.2861G>C (p.Arg954Pro) rs112911555
NM_000138.5(FBN1):c.2875_2908dup (p.Pro970fs) rs2141297440
NM_000138.5(FBN1):c.2876del (p.Phe959fs) rs2043545549
NM_000138.5(FBN1):c.2886C>A (p.Tyr962Ter) rs772108557
NM_000138.5(FBN1):c.2886C>G (p.Tyr962Ter)
NM_000138.5(FBN1):c.2887_2893del (p.Glu963fs) rs1555398832
NM_000138.5(FBN1):c.2896G>T (p.Glu966Ter) rs1555398830
NM_000138.5(FBN1):c.2899_2900dup (p.Thr968fs) rs1555398828
NM_000138.5(FBN1):c.2901del (p.Glu966_Cys967insTer)
NM_000138.5(FBN1):c.2903_2910dup (p.Ile971fs) rs2141297429
NM_000138.5(FBN1):c.2934dup (p.Ala979fs) rs1555398821
NM_000138.5(FBN1):c.293del (p.Asn98fs) rs2044650356
NM_000138.5(FBN1):c.2945G>C (p.Cys982Ser) rs1057524458
NM_000138.5(FBN1):c.2949del (p.Val984fs)
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg) rs794728199
NM_000138.5(FBN1):c.2962dup (p.Trp988fs)
NM_000138.5(FBN1):c.2963G>A (p.Trp988Ter) rs2043543553
NM_000138.5(FBN1):c.2964G>A (p.Trp988Ter)
NM_000138.5(FBN1):c.2966dup (p.Thr990fs)
NM_000138.5(FBN1):c.2979C>A (p.Cys993Ter)
NM_000138.5(FBN1):c.2980G>T (p.Glu994Ter)
NM_000138.5(FBN1):c.2982_2999del (p.Glu994_Asn1000delinsAsp)
NM_000138.5(FBN1):c.2986T>A (p.Cys996Ser) rs140592
NM_000138.5(FBN1):c.2986dup (p.Cys996fs) rs2043543231
NM_000138.5(FBN1):c.298T>C (p.Cys100Arg) rs1597631662
NM_000138.5(FBN1):c.2T>G (p.Met1Arg) rs886041536
NM_000138.5(FBN1):c.300C>A (p.Cys100Ter) rs397515783
NM_000138.5(FBN1):c.3012C>A (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3012C>G (p.Tyr1004Ter) rs397515784
NM_000138.5(FBN1):c.3013G>T (p.Glu1005Ter) rs564713154
NM_000138.5(FBN1):c.3022T>C (p.Cys1008Arg) rs1555398793
NM_000138.5(FBN1):c.3023G>C (p.Cys1008Ser) rs2141297152
NM_000138.5(FBN1):c.3037G>A (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3037G>C (p.Gly1013Arg) rs140593
NM_000138.5(FBN1):c.3038del (p.Gly1013fs) rs2141297097
NM_000138.5(FBN1):c.3052G>T (p.Glu1018Ter) rs1597565298
NM_000138.5(FBN1):c.3055del (p.Ile1019fs)
NM_000138.5(FBN1):c.3061_3082+172del rs1555398753
NM_000138.5(FBN1):c.3064G>T (p.Gly1022Ter)
NM_000138.5(FBN1):c.306C>G (p.Cys102Trp)
NM_000138.5(FBN1):c.3073_3074insA (p.Phe1025fs) rs1566910251
NM_000138.5(FBN1):c.3081del (p.Asp1028fs) rs1555398774
NM_000138.5(FBN1):c.3082+1G>A rs886038996
NM_000138.5(FBN1):c.3082+1G>C rs886038996
NM_000138.5(FBN1):c.3082+2T>C
NM_000138.5(FBN1):c.3083-1G>T rs2141295345
NM_000138.5(FBN1):c.3083-2A>C rs2043529474
NM_000138.5(FBN1):c.3083A>T (p.Asp1028Val) rs1131691317
NM_000138.5(FBN1):c.3089_3092del (p.Asn1030fs)
NM_000138.5(FBN1):c.3089del (p.Asn1030fs)
NM_000138.5(FBN1):c.3091G>T (p.Glu1031Ter) rs1555398685
NM_000138.5(FBN1):c.3095G>A (p.Cys1032Tyr) rs137854481
NM_000138.5(FBN1):c.3096C>A (p.Cys1032Ter) rs1597564359
NM_000138.5(FBN1):c.3098del (p.Lys1033fs) rs1555398683
NM_000138.5(FBN1):c.309del (p.Ser104fs) rs2140733940
NM_000138.5(FBN1):c.3109_3112dup (p.Leu1038fs) rs2043529080
NM_000138.5(FBN1):c.3116G>A (p.Cys1039Tyr) rs2141295277
NM_000138.5(FBN1):c.3124G>A (p.Gly1042Ser) rs1555398681
NM_000138.5(FBN1):c.3128_3148del (p.Lys1043_Gly1049del)
NM_000138.5(FBN1):c.3130T>A (p.Cys1044Ser)
NM_000138.5(FBN1):c.3130T>G (p.Cys1044Gly) rs2141295251
NM_000138.5(FBN1):c.3131G>A (p.Cys1044Tyr) rs730880100
NM_000138.5(FBN1):c.3132C>A (p.Cys1044Ter) rs1555398677
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs) rs193922197
NM_000138.5(FBN1):c.3143T>C (p.Ile1048Thr) rs1555398673
NM_000138.5(FBN1):c.3144del (p.Ile1048fs) rs1555398672
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp) rs1555398670
NM_000138.5(FBN1):c.3149del (p.Ser1050fs) rs2141295207
NM_000138.5(FBN1):c.3158G>A (p.Cys1053Tyr) rs2043528397
NM_000138.5(FBN1):c.3159C>A (p.Cys1053Ter) rs886039054
NM_000138.5(FBN1):c.3159C>G (p.Cys1053Trp) rs886039054
NM_000138.5(FBN1):c.315_318dup (p.Ile107fs) rs1597631624
NM_000138.5(FBN1):c.3164G>A (p.Cys1055Tyr) rs397515786
NM_000138.5(FBN1):c.3165T>A (p.Cys1055Ter) rs1060501040
NM_000138.5(FBN1):c.3166del (p.Asp1056fs) rs1060501013
NM_000138.5(FBN1):c.3173G>A (p.Gly1058Asp) rs794728202
NM_000138.5(FBN1):c.3173G>T (p.Gly1058Val) rs794728202
NM_000138.5(FBN1):c.3181del (p.Asp1062fs)
NM_000138.5(FBN1):c.3192del (p.Glu1065fs) rs1131692050
NM_000138.5(FBN1):c.3193del (p.Glu1065fs) rs193922198
NM_000138.5(FBN1):c.319del (p.Gln106_Ile107insTer)
NM_000138.5(FBN1):c.3202T>C (p.Cys1068Arg) rs1293095681
NM_000138.5(FBN1):c.3204C>A (p.Cys1068Ter) rs886038248
NM_000138.5(FBN1):c.3209-1G>C rs886038956
NM_000138.5(FBN1):c.3211del (p.Ile1071fs) rs1597564038
NM_000138.5(FBN1):c.3217G>A (p.Glu1073Lys) rs137854478
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter) rs137854478
NM_000138.5(FBN1):c.3218A>G (p.Glu1073Gly)
NM_000138.5(FBN1):c.3220T>C (p.Cys1074Arg) rs137854465
NM_000138.5(FBN1):c.3225_3228dup (p.Ser1077fs) rs2141294801
NM_000138.5(FBN1):c.3227dup (p.Ser1077fs) rs2141294808
NM_000138.5(FBN1):c.3228_3232dup (p.Pro1078fs) rs2141294789
NM_000138.5(FBN1):c.3235_3239del (p.Asp1079fs) rs1555398642
NM_000138.5(FBN1):c.3253C>T (p.Gln1085Ter) rs1555398640
NM_000138.5(FBN1):c.3256T>C (p.Cys1086Arg) rs1555398637
NM_000138.5(FBN1):c.3256T>G (p.Cys1086Gly) rs1555398637
NM_000138.5(FBN1):c.3257G>A (p.Cys1086Tyr) rs137854484
NM_000138.5(FBN1):c.3269del (p.Pro1090fs) rs35656954
NM_000138.5(FBN1):c.3274del (p.Asp1092fs) rs397515788
NM_000138.5(FBN1):c.3284G>C (p.Cys1095Ser) rs1597563934
NM_000138.5(FBN1):c.3290G>A (p.Cys1097Tyr) rs1555398627
NM_000138.5(FBN1):c.3299G>A (p.Gly1100Asp)
NM_000138.5(FBN1):c.3302A>G (p.Tyr1101Cys) rs1555398625
NM_000138.5(FBN1):c.3303T>A (p.Tyr1101Ter) rs1555398624
NM_000138.5(FBN1):c.3318del (p.Met1106fs) rs2141294624
NM_000138.5(FBN1):c.331T>C (p.Cys111Arg)
NM_000138.5(FBN1):c.3320_3321del (p.Met1107fs) rs2141294618
NM_000138.5(FBN1):c.3332G>A (p.Cys1111Tyr) rs1566909766
NM_000138.5(FBN1):c.3333C>A (p.Cys1111Ter)
NM_000138.5(FBN1):c.3337+1G>A rs397515789
NM_000138.5(FBN1):c.3337+1G>T rs397515789
NM_000138.5(FBN1):c.3337+1del rs1566909762
NM_000138.5(FBN1):c.3337+2T>C rs2141294575
NM_000138.5(FBN1):c.3338-1G>C rs2141293811
NM_000138.5(FBN1):c.3338A>G (p.Asp1113Gly) rs140597
NM_000138.5(FBN1):c.3344A>G (p.Asp1115Gly) rs794728203
NM_000138.5(FBN1):c.3347_3348del (p.Glu1116fs) rs1555398580
NM_000138.5(FBN1):c.3349T>C (p.Cys1117Arg) rs2141293770
NM_000138.5(FBN1):c.3349del (p.Cys1117fs) rs1597563316
NM_000138.5(FBN1):c.3350G>A (p.Cys1117Tyr) rs137854470
NM_000138.5(FBN1):c.3356_3359del (p.Arg1119fs)
NM_000138.5(FBN1):c.3362del (p.Pro1121fs)
NM_000138.5(FBN1):c.336dup (p.Ser113fs) rs1555405528
NM_000138.5(FBN1):c.3370T>G (p.Cys1124Gly) rs2141293730
NM_000138.5(FBN1):c.3372_3376del (p.Cys1124fs) rs1597563280
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.5(FBN1):c.3374_3379delinsAAAGT (p.Arg1125fs) rs1597563274
NM_000138.5(FBN1):c.3375dup (p.Gly1126fs) rs1597563287
NM_000138.5(FBN1):c.3383_3386dup (p.His1130fs) rs2141293686
NM_000138.5(FBN1):c.3385T>C (p.Cys1129Arg) rs2043517941
NM_000138.5(FBN1):c.3386G>A (p.Cys1129Tyr) rs137854482
NM_000138.5(FBN1):c.3388del (p.His1130fs) rs1555398572
NM_000138.5(FBN1):c.3391A>T (p.Asn1131Tyr) rs137854473
NM_000138.5(FBN1):c.3395_3396del (p.Thr1132fs) rs2141293662
NM_000138.5(FBN1):c.3398_3399del (p.Glu1133fs) rs1597563234
NM_000138.5(FBN1):c.3398_3408del (p.Glu1133fs) rs1555398566
NM_000138.5(FBN1):c.3400G>T (p.Gly1134Ter) rs372404949
NM_000138.5(FBN1):c.3407_3431dup (p.His1144delinsGlnProLeuTer)
NM_000138.5(FBN1):c.3407dup (p.Tyr1136Ter) rs2141293639
NM_000138.5(FBN1):c.3408C>A (p.Tyr1136Ter) rs1555398564
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser) rs397515791
NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe) rs397515791
NM_000138.5(FBN1):c.3424_3427dup (p.Gly1143fs) rs794728306
NM_000138.5(FBN1):c.3432dup (p.Gln1145fs) rs1566909483
NM_000138.5(FBN1):c.3458G>A (p.Cys1153Tyr) rs140599
NM_000138.5(FBN1):c.3458G>T (p.Cys1153Phe)
NM_000138.5(FBN1):c.345del (p.Ile116fs)
NM_000138.5(FBN1):c.3463+1G>A rs397515792
NM_000138.5(FBN1):c.3463+1G>T rs397515792
NM_000138.5(FBN1):c.3464-1G>A rs2141293336
NM_000138.5(FBN1):c.3464-1del rs2141293337
NM_000138.5(FBN1):c.3464-6C>A
NM_000138.5(FBN1):c.3466_3467del (p.Ile1156fs)
NM_000138.5(FBN1):c.3473A>G (p.Glu1158Gly) rs1597562926
NM_000138.5(FBN1):c.3475T>C (p.Cys1159Arg) rs794728205
NM_000138.5(FBN1):c.3476G>A (p.Cys1159Tyr) rs1555398524
NM_000138.5(FBN1):c.3487_3488dup (p.Leu1165fs) rs2043515102
NM_000138.5(FBN1):c.3498C>A (p.Cys1166Ter)
NM_000138.5(FBN1):c.34G>T (p.Gly12Ter)
NM_000138.5(FBN1):c.3508del (p.Arg1170fs) rs2141293265
NM_000138.5(FBN1):c.3511T>C (p.Cys1171Arg) rs2141293252
NM_000138.5(FBN1):c.3512G>A (p.Cys1171Tyr) rs1555398521
NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp) rs775417975
NM_000138.5(FBN1):c.3518A>T (p.Asn1173Ile) rs1555398520
NM_000138.5(FBN1):c.3518_3538del (p.Asn1173_Cys1180delinsSer) rs1555398514
NM_000138.5(FBN1):c.3529A>T (p.Lys1177Ter)
NM_000138.5(FBN1):c.3534T>A (p.Tyr1178Ter)
NM_000138.5(FBN1):c.3534dup (p.Gln1179fs) rs2141293209
NM_000138.5(FBN1):c.3535C>T (p.Gln1179Ter) rs1364210063
NM_000138.5(FBN1):c.3538T>C (p.Cys1180Arg) rs2141293199
NM_000138.5(FBN1):c.3539G>A (p.Cys1180Tyr) rs1555398513
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr) rs1597562812
NM_000138.5(FBN1):c.3545_3548dup (p.Asn1183fs) rs2141293186
NM_000138.5(FBN1):c.3546C>A (p.Cys1182Ter) rs727504411
NM_000138.5(FBN1):c.3554G>A (p.Gly1185Asp) rs1555398512
NM_000138.5(FBN1):c.3557A>G (p.Tyr1186Cys) rs1555398511
NM_000138.5(FBN1):c.3557del (p.Tyr1186fs) rs2043514354
NM_000138.5(FBN1):c.3558C>G (p.Tyr1186Ter) rs1555398510
NM_000138.5(FBN1):c.3559dup (p.His1187fs) rs1555398508
NM_000138.5(FBN1):c.3583del (p.Cys1195fs) rs2141293095
NM_000138.5(FBN1):c.3589+1G>T rs1555398501
NM_000138.5(FBN1):c.3595_3608dup (p.Ile1203fs) rs1566908947
NM_000138.5(FBN1):c.3603C>A (p.Cys1201Ter)
NM_000138.5(FBN1):c.3613_3616del (p.Asn1205fs) rs2141291389
NM_000138.5(FBN1):c.3616G>T (p.Gly1206Cys) rs1555398411
NM_000138.5(FBN1):c.3623G>T (p.Cys1208Phe) rs1555398406
NM_000138.5(FBN1):c.3623del (p.Cys1208fs) rs1555398407
NM_000138.5(FBN1):c.3624T>A (p.Cys1208Ter) rs765842423
NM_000138.5(FBN1):c.362_363dup (p.Arg122fs) rs2044551389
NM_000138.5(FBN1):c.3644_3645del (p.Asn1214_Ser1215insTer)
NM_000138.5(FBN1):c.364C>T (p.Arg122Cys) rs137854467
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000138.5(FBN1):c.3656dup (p.Tyr1219Ter) rs1555398395
NM_000138.5(FBN1):c.3661T>C (p.Cys1221Arg) rs2141291310
NM_000138.5(FBN1):c.3661dup (p.Cys1221fs)
NM_000138.5(FBN1):c.3662G>A (p.Cys1221Tyr) rs137854483
NM_000138.5(FBN1):c.3668G>A (p.Cys1223Tyr) rs137854469
NM_000138.5(FBN1):c.3669T>A (p.Cys1223Ter) rs886039196
NM_000138.5(FBN1):c.367del (p.Cys123fs) rs2140718246
NM_000138.5(FBN1):c.368G>A (p.Cys123Tyr) rs397515794
NM_000138.5(FBN1):c.368G>C (p.Cys123Ser) rs397515794
NM_000138.5(FBN1):c.3693_3697del (p.Asp1232fs)
NM_000138.5(FBN1):c.3697C>T (p.Gln1233Ter)
NM_000138.5(FBN1):c.3703T>C (p.Ser1235Pro) rs1555398382
NM_000138.5(FBN1):c.3704C>G (p.Ser1235Ter) rs2141291261
NM_000138.5(FBN1):c.3704del (p.Ser1235fs)
NM_000138.5(FBN1):c.3707G>A (p.Cys1236Tyr) rs1555398377
NM_000138.5(FBN1):c.3712+1G>T rs794728209
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.5(FBN1):c.3713-1G>T rs2141289776
NM_000138.5(FBN1):c.3713-2A>C
NM_000138.5(FBN1):c.3721_3732del (p.Glu1241_Asp1244del)
NM_000138.5(FBN1):c.3724T>C (p.Cys1242Arg) rs2141289747
NM_000138.5(FBN1):c.3725G>A (p.Cys1242Tyr) rs137854471
NM_000138.5(FBN1):c.3745T>G (p.Cys1249Gly)
NM_000138.5(FBN1):c.3746G>A (p.Cys1249Tyr)
NM_000138.5(FBN1):c.3746G>C (p.Cys1249Ser) rs137854458
NM_000138.5(FBN1):c.3757C>T (p.Gln1253Ter) rs1131691311
NM_000138.5(FBN1):c.3757_3760del (p.Gln1253fs) rs2043485390
NM_000138.5(FBN1):c.3766A>C (p.Asn1256His) rs772890884
NM_000138.5(FBN1):c.376G>T (p.Gly126Ter) rs1597625734
NM_000138.5(FBN1):c.3778G>T (p.Glu1260Ter) rs1555398283
NM_000138.5(FBN1):c.3788G>T (p.Cys1263Phe)
NM_000138.5(FBN1):c.3793T>C (p.Cys1265Arg) rs137854474
NM_000138.5(FBN1):c.3793_3799del (p.Cys1265fs) rs1555398276
NM_000138.5(FBN1):c.3794G>A (p.Cys1265Tyr)
NM_000138.5(FBN1):c.3794G>T (p.Cys1265Phe) rs1555398279
NM_000138.5(FBN1):c.3795T>A (p.Cys1265Ter) rs1555398278
NM_000138.5(FBN1):c.3815del (p.Ser1272fs) rs1555398272
NM_000138.5(FBN1):c.3816del (p.Glu1273fs) rs2141289577
NM_000138.5(FBN1):c.3821del (p.Asp1274fs)
NM_000138.5(FBN1):c.3823_3830del (p.Met1275fs)
NM_000138.5(FBN1):c.3833G>A (p.Cys1278Tyr)
NM_000138.5(FBN1):c.3838+2T>C
NM_000138.5(FBN1):c.3839_3846del (p.Asp1280fs) rs113603747
NM_000138.5(FBN1):c.3849del (p.Glu1283fs) rs1555398174
NM_000138.5(FBN1):c.3850T>A (p.Cys1284Ser) rs2043467154
NM_000138.5(FBN1):c.3850T>C (p.Cys1284Arg) rs2043467154
NM_000138.5(FBN1):c.3850dup (p.Cys1284fs)
NM_000138.5(FBN1):c.3851G>A (p.Cys1284Tyr) rs1555398173
NM_000138.5(FBN1):c.385T>G (p.Cys129Gly) rs199474693
NM_000138.5(FBN1):c.386G>A (p.Cys129Tyr) rs1566935517
NM_000138.5(FBN1):c.386G>T (p.Cys129Phe) rs1566935517
NM_000138.5(FBN1):c.3871del (p.Cys1291fs) rs2141287465
NM_000138.5(FBN1):c.3874del (p.Cys1291_Leu1292insTer) rs1597559048
NM_000138.5(FBN1):c.3878_3891del (p.Ser1293fs)
NM_000138.5(FBN1):c.3893del (p.Asn1298fs) rs869025425
NM_000138.5(FBN1):c.3895dup (p.Thr1299fs) rs1555398160
NM_000138.5(FBN1):c.3900_3903del (p.Lys1300fs) rs2043466554
NM_000138.5(FBN1):c.3901_3904dup (p.Ser1302fs) rs2141287379
NM_000138.5(FBN1):c.3902G>T (p.Gly1301Val) rs1566908083
NM_000138.5(FBN1):c.3902del (p.Gly1301fs) rs2141287396
NM_000138.5(FBN1):c.3906dup (p.Phe1303fs) rs2141287368
NM_000138.5(FBN1):c.3914G>A (p.Cys1305Tyr)
NM_000138.5(FBN1):c.3920G>A (p.Cys1307Tyr)
NM_000138.5(FBN1):c.3921_3922del (p.Cys1307_Asp1308delinsTer)
NM_000138.5(FBN1):c.3925dup (p.Met1309fs)
NM_000138.5(FBN1):c.3928G>A (p.Gly1310Ser)
NM_000138.5(FBN1):c.3929dup (p.Tyr1311fs) rs2141287336
NM_000138.5(FBN1):c.3945dup (p.Gly1316fs) rs1555398144
NM_000138.5(FBN1):c.3947del (p.Gly1316fs) rs1555398143
NM_000138.5(FBN1):c.3952dup (p.Thr1318fs) rs1566908063
NM_000138.5(FBN1):c.3958T>C (p.Cys1320Arg) rs1597558920
NM_000138.5(FBN1):c.3959G>C (p.Cys1320Ser) rs113393517
NM_000138.5(FBN1):c.3962dup (p.Asp1322fs) rs1555398137
NM_000138.5(FBN1):c.3964+2T>C
NM_000138.5(FBN1):c.3965-2A>T rs387906547
NM_000138.5(FBN1):c.3973G>T (p.Glu1325Ter) rs2141280296
NM_000138.5(FBN1):c.3973dup (p.Glu1325fs) rs1555397743
NM_000138.5(FBN1):c.3975del (p.Glu1325fs)
NM_000138.5(FBN1):c.3976T>C (p.Cys1326Arg)
NM_000138.5(FBN1):c.3977G>A (p.Cys1326Tyr) rs1555397738
NM_000138.5(FBN1):c.3977del (p.Cys1326fs) rs2141280278
NM_000138.5(FBN1):c.3998G>A (p.Cys1333Tyr) rs2043405073
NM_000138.5(FBN1):c.3999_4000del (p.Cys1333fs)
NM_000138.5(FBN1):c.3G>A (p.Met1Ile) rs886039072
NM_000138.5(FBN1):c.3G>T (p.Met1Ile) rs886039072
NM_000138.5(FBN1):c.4002_4003del (p.Lys1335fs) rs2141280251
NM_000138.5(FBN1):c.4003_4004insCACAACTCTGGCA (p.Lys1335fs) rs1555397733
NM_000138.5(FBN1):c.400T>C (p.Cys134Arg) rs1555405044
NM_000138.5(FBN1):c.4011del (p.Val1338fs) rs2043404959
NM_000138.5(FBN1):c.4011dup (p.Val1338fs)
NM_000138.5(FBN1):c.4016G>A (p.Cys1339Tyr) rs397515798
NM_000138.5(FBN1):c.4016G>C (p.Cys1339Ser) rs397515798
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr) rs1555405043
NM_000138.5(FBN1):c.4020del (p.Asn1341fs) rs2141280222
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser) rs140638
NM_000138.5(FBN1):c.4024dup (p.Thr1342fs)
NM_000138.5(FBN1):c.4029del (p.Gly1344fs) rs2043404761
NM_000138.5(FBN1):c.4031G>A (p.Gly1344Glu) rs1555397725
NM_000138.5(FBN1):c.4036T>G (p.Phe1346Val) rs1566906537
NM_000138.5(FBN1):c.4042T>C (p.Cys1348Arg) rs2141280160
NM_000138.5(FBN1):c.4043G>A (p.Cys1348Tyr) rs1555397720
NM_000138.5(FBN1):c.4043G>T (p.Cys1348Phe) rs1555397720
NM_000138.5(FBN1):c.4044T>G (p.Cys1348Trp) rs1555397719
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg) rs397515799
NM_000138.5(FBN1):c.4049G>A (p.Cys1350Tyr) rs1555397718
NM_000138.5(FBN1):c.4049G>T (p.Cys1350Phe) rs1555397718
NM_000138.5(FBN1):c.4056del (p.Trp1354fs) rs1555397713
NM_000138.5(FBN1):c.4061G>A (p.Trp1354Ter) rs1060501039
NM_000138.5(FBN1):c.406T>G (p.Cys136Gly) rs1555405041
NM_000138.5(FBN1):c.406dup (p.Cys136fs) rs1555405042
NM_000138.5(FBN1):c.4079del (p.Lys1360fs) rs2141280061
NM_000138.5(FBN1):c.407G>A (p.Cys136Tyr)
NM_000138.5(FBN1):c.407G>T (p.Cys136Phe)
NM_000138.5(FBN1):c.4081T>C (p.Cys1361Arg) rs1566906506
NM_000138.5(FBN1):c.4082G>A (p.Cys1361Tyr) rs1555397704
NM_000138.5(FBN1):c.4087+1G>A rs387906548
NM_000138.5(FBN1):c.4088-2A>C rs1555397671
NM_000138.5(FBN1):c.408C>A (p.Cys136Ter) rs1555405039
NM_000138.5(FBN1):c.4096G>A (p.Glu1366Lys) rs763449629
NM_000138.5(FBN1):c.4098dup (p.Cys1367fs)
NM_000138.5(FBN1):c.4099T>C (p.Cys1367Arg) rs1555397670
NM_000138.5(FBN1):c.409C>T (p.Gln137Ter) rs1060501047
NM_000138.5(FBN1):c.40dup (p.Thr14fs)
NM_000138.5(FBN1):c.4100G>A (p.Cys1367Tyr) rs2141279869
NM_000138.5(FBN1):c.4101T>A (p.Cys1367Ter)
NM_000138.5(FBN1):c.4120T>C (p.Cys1374Arg) rs2141279837
NM_000138.5(FBN1):c.4120T>G (p.Cys1374Gly) rs2141279837
NM_000138.5(FBN1):c.4121G>A (p.Cys1374Tyr) rs2141279835
NM_000138.5(FBN1):c.4122C>A (p.Cys1374Ter)
NM_000138.5(FBN1):c.4135_4141del (p.Asp1379fs) rs886038970
NM_000138.5(FBN1):c.4145dup (p.Asn1382fs) rs1555397663
NM_000138.5(FBN1):c.4149_4154del (p.Met1384_Gly1385del)
NM_000138.5(FBN1):c.4154del (p.Gly1385fs) rs2043402092
NM_000138.5(FBN1):c.415G>T (p.Gly139Ter)
NM_000138.5(FBN1):c.4161C>A (p.Tyr1387Ter)
NM_000138.5(FBN1):c.4163G>C (p.Arg1388Pro) rs749196340
NM_000138.5(FBN1):c.4166G>A (p.Cys1389Tyr) rs1060501026
NM_000138.5(FBN1):c.4166G>C (p.Cys1389Ser) rs1060501026
NM_000138.5(FBN1):c.4168_4171del (p.Leu1390fs) rs1555397655
NM_000138.5(FBN1):c.4172G>A (p.Cys1391Tyr) rs1352478541
NM_000138.5(FBN1):c.4177_4199del (p.Glu1393fs) rs1566906389
NM_000138.5(FBN1):c.4177del (p.Glu1393fs) rs2043401705
NM_000138.5(FBN1):c.4179_4182del (p.Glu1393fs)
NM_000138.5(FBN1):c.4180G>T (p.Gly1394Ter) rs2141279711
NM_000138.5(FBN1):c.4188del (p.Gly1397fs) rs1555397652
NM_000138.5(FBN1):c.4204T>G (p.Cys1402Gly) rs2141279646
NM_000138.5(FBN1):c.4205G>A (p.Cys1402Tyr) rs1555397646
NM_000138.5(FBN1):c.4210+1G>A rs730880106
NM_000138.5(FBN1):c.4211-1G>A rs1057523796
NM_000138.5(FBN1):c.4219G>T (p.Glu1407Ter) rs1597552583
NM_000138.5(FBN1):c.4222T>A (p.Cys1408Ser)
NM_000138.5(FBN1):c.4222T>C (p.Cys1408Arg) rs397515802
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer) rs1566905976
NM_000138.5(FBN1):c.4252_4253insCATT (p.Gly1418fs)
NM_000138.5(FBN1):c.4253_4259del (p.Gly1418fs) rs398122934
NM_000138.5(FBN1):c.4255C>T (p.Gln1419Ter)
NM_000138.5(FBN1):c.4258T>C (p.Cys1420Arg) rs2043386188
NM_000138.5(FBN1):c.4259G>A (p.Cys1420Tyr) rs397515804
NM_000138.5(FBN1):c.4259G>C (p.Cys1420Ser)
NM_000138.5(FBN1):c.4259G>T (p.Cys1420Phe) rs397515804
NM_000138.5(FBN1):c.4265del (p.Asn1422fs)
NM_000138.5(FBN1):c.4270C>T (p.Pro1424Ser) rs201273753
NM_000138.5(FBN1):c.4280dup (p.Tyr1427Ter)
NM_000138.5(FBN1):c.4281C>A (p.Tyr1427Ter) rs2141277951
NM_000138.5(FBN1):c.4285T>A (p.Cys1429Ser) rs1555397546
NM_000138.5(FBN1):c.4286G>A (p.Cys1429Tyr) rs1555397545
NM_000138.5(FBN1):c.4287T>G (p.Cys1429Trp) rs1555397543
NM_000138.5(FBN1):c.4292G>A (p.Cys1431Tyr) rs1555397540
NM_000138.5(FBN1):c.4293C>A (p.Cys1431Ter) rs112375043
NM_000138.5(FBN1):c.4293C>G (p.Cys1431Trp) rs112375043
NM_000138.5(FBN1):c.4302del (p.Phe1435fs) rs2043385268
NM_000138.5(FBN1):c.4311del (p.Ser1438fs) rs2141277871
NM_000138.5(FBN1):c.4319del (p.Asp1440fs) rs1597552388
NM_000138.5(FBN1):c.4330T>A (p.Cys1444Ser) rs869025406
NM_000138.5(FBN1):c.4331G>C (p.Cys1444Ser) rs886038940
NM_000138.5(FBN1):c.4332T>G (p.Cys1444Trp) rs2141277826
NM_000138.5(FBN1):c.4336+1G>A rs2141277821
NM_000138.5(FBN1):c.4336+1G>T rs2141277821
NM_000138.5(FBN1):c.4336G>A (p.Asp1446Asn) rs794728221
NM_000138.5(FBN1):c.4337-1G>T rs1555397424
NM_000138.5(FBN1):c.4337-2A>G rs794728216
NM_000138.5(FBN1):c.4337-2A>T rs794728216
NM_000138.5(FBN1):c.4341_4344del (p.Ile1447fs)
NM_000138.5(FBN1):c.4345_4346insCACT (p.Glu1449fs) rs2043366702
NM_000138.5(FBN1):c.4348T>C (p.Cys1450Arg) rs1555397421
NM_000138.5(FBN1):c.4349G>A (p.Cys1450Tyr) rs1555397419
NM_000138.5(FBN1):c.4349G>T (p.Cys1450Phe) rs1555397419
NM_000138.5(FBN1):c.434G>A (p.Cys145Tyr) rs878853682
NM_000138.5(FBN1):c.4367G>C (p.Cys1456Ser) rs397515805
NM_000138.5(FBN1):c.4369_4370del (p.Val1457fs) rs1060501043
NM_000138.5(FBN1):c.4381T>C (p.Cys1461Arg) rs2141275778
NM_000138.5(FBN1):c.4382G>A (p.Cys1461Tyr) rs1057522902
NM_000138.5(FBN1):c.4382G>C (p.Cys1461Ser) rs1057522902
NM_000138.5(FBN1):c.4382G>T (p.Cys1461Phe) rs1057522902
NM_000138.5(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.5(FBN1):c.439C>T (p.Gln147Ter) rs886039036
NM_000138.5(FBN1):c.4405del (p.Arg1469fs) rs794728308
NM_000138.5(FBN1):c.4409G>A (p.Cys1470Tyr) rs2043365537
NM_000138.5(FBN1):c.4410_4411del (p.Cys1470_Glu1471delinsTer) rs2141275703
NM_000138.5(FBN1):c.4410dup (p.Glu1471Ter) rs2043365502
NM_000138.5(FBN1):c.4412_4415del (p.Glu1471fs) rs886038846
NM_000138.5(FBN1):c.4414T>A (p.Cys1472Ser) rs1555397403
NM_000138.5(FBN1):c.4414T>C (p.Cys1472Arg) rs1555397403
NM_000138.5(FBN1):c.441del (p.Gln147fs) rs1555405028
NM_000138.5(FBN1):c.443-1G>A rs1555404821
NM_000138.5(FBN1):c.4437C>G (p.Asp1479Glu) rs370161725
NM_000138.5(FBN1):c.443del (p.Pro148fs) rs1555404820
NM_000138.5(FBN1):c.4453T>C (p.Cys1485Arg) rs730880101
NM_000138.5(FBN1):c.4453T>G (p.Cys1485Gly) rs730880101
NM_000138.5(FBN1):c.4454G>C (p.Cys1485Ser) rs111978932
NM_000138.5(FBN1):c.4459+1G>A
NM_000138.5(FBN1):c.4459G>A (p.Asp1487Asn) rs113693945
NM_000138.5(FBN1):c.4460-1G>T
NM_000138.5(FBN1):c.4460-9C>A rs372753740
NM_000138.5(FBN1):c.4460A>G (p.Asp1487Gly) rs1555397216
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys) rs193922205
NM_000138.5(FBN1):c.4468G>A (p.Glu1490Lys) rs1060501076
NM_000138.5(FBN1):c.4468G>T (p.Glu1490Ter) rs1060501076
NM_000138.5(FBN1):c.4471T>A (p.Cys1491Ser)
NM_000138.5(FBN1):c.4471T>C (p.Cys1491Arg) rs2141273081
NM_000138.5(FBN1):c.4472G>A (p.Cys1491Tyr)
NM_000138.5(FBN1):c.4472G>T (p.Cys1491Phe) rs2141273076
NM_000138.5(FBN1):c.4473C>G (p.Cys1491Trp) rs2043341787
NM_000138.5(FBN1):c.448T>C (p.Cys150Arg) rs1555404819
NM_000138.5(FBN1):c.4490G>A (p.Cys1497Tyr) rs1555397212
NM_000138.5(FBN1):c.4490G>C (p.Cys1497Ser) rs1555397212
NM_000138.5(FBN1):c.4491C>A (p.Cys1497Ter) rs2043341481
NM_000138.5(FBN1):c.449G>A (p.Cys150Tyr) rs2140711857
NM_000138.5(FBN1):c.4501_4511del (p.Asn1501fs) rs1555397210
NM_000138.5(FBN1):c.4504T>C (p.Cys1502Arg) rs2141273019
NM_000138.5(FBN1):c.4505G>A (p.Cys1502Tyr) rs397515810
NM_000138.5(FBN1):c.4506T>A (p.Cys1502Ter)
NM_000138.5(FBN1):c.4511A>G (p.Asn1504Ser) rs1555397209
NM_000138.5(FBN1):c.4517del (p.Pro1506fs) rs2141272985
NM_000138.5(FBN1):c.451G>T (p.Glu151Ter) rs1180715983
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp) rs794728225
NM_000138.5(FBN1):c.4531T>C (p.Cys1511Arg) rs397515811
NM_000138.5(FBN1):c.4532G>A (p.Cys1511Tyr) rs1060501074
NM_000138.5(FBN1):c.4532del (p.Cys1511fs)
NM_000138.5(FBN1):c.4537T>G (p.Cys1513Gly)
NM_000138.5(FBN1):c.4539C>G (p.Cys1513Trp) rs1555397203
NM_000138.5(FBN1):c.4544_4546delinsAGAT (p.Pro1515fs)
NM_000138.5(FBN1):c.4549T>A (p.Phe1517Ile)
NM_000138.5(FBN1):c.454del (p.Ser152fs)
NM_000138.5(FBN1):c.4555del (p.Glu1518_Leu1519insTer) rs1555397199
NM_000138.5(FBN1):c.4562del (p.Pro1521fs) rs886039035
NM_000138.5(FBN1):c.4562dup (p.Thr1522fs)
NM_000138.5(FBN1):c.4567C>T (p.Arg1523Ter) rs397515812
NM_000138.5(FBN1):c.4576T>C (p.Cys1526Arg)
NM_000138.5(FBN1):c.4577G>C (p.Cys1526Ser)
NM_000138.5(FBN1):c.4581_4582del (p.Asp1528fs) rs2141272855
NM_000138.5(FBN1):c.4582+1G>A rs1555397195
NM_000138.5(FBN1):c.4582+1G>T rs1555397195
NM_000138.5(FBN1):c.4582+2T>G rs1555397193
NM_000138.5(FBN1):c.4582+2dup rs1555397194
NM_000138.5(FBN1):c.4583-2A>G
NM_000138.5(FBN1):c.4583-9G>A rs2043338449
NM_000138.5(FBN1):c.4585dup (p.Thr1529fs) rs2141272535
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4588del (p.Arg1530fs) rs2043338241
NM_000138.5(FBN1):c.4591del (p.Ser1531fs) rs2141272501
NM_000138.5(FBN1):c.459_460dup (p.Cys154fs) rs2140711798
NM_000138.5(FBN1):c.4600T>C (p.Cys1534Arg) rs2141272479
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter) rs111231312
NM_000138.5(FBN1):c.461G>C (p.Cys154Ser) rs1057521103
NM_000138.5(FBN1):c.4621C>T (p.Arg1541Ter) rs794728228
NM_000138.5(FBN1):c.4625_4626delinsATAATCTCCATTC (p.Gly1542fs) rs2043337762
NM_000138.5(FBN1):c.4639dup (p.Thr1547fs) rs1597548734
NM_000138.5(FBN1):c.4657_4658del (p.Ile1553fs)
NM_000138.5(FBN1):c.465del (p.Asn156fs) rs2044515899
NM_000138.5(FBN1):c.4660G>T (p.Gly1554Ter) rs2043337443
NM_000138.5(FBN1):c.4665_4668del (p.Gly1556fs) rs1555397160
NM_000138.5(FBN1):c.4688G>A (p.Cys1563Tyr) rs1131691871
NM_000138.5(FBN1):c.4689C>G (p.Cys1563Trp) rs2043337073
NM_000138.5(FBN1):c.4690_4691insTGTT (p.Cys1564fs) rs2141272337
NM_000138.5(FBN1):c.4691G>A (p.Cys1564Tyr) rs267606800
NM_000138.5(FBN1):c.4704_4707dup (p.Trp1570fs)
NM_000138.5(FBN1):c.4704dup (p.Ala1569fs) rs1555397154
NM_000138.5(FBN1):c.4710G>A (p.Trp1570Ter) rs267606799
NM_000138.5(FBN1):c.4723G>T (p.Glu1575Ter) rs2141272276
NM_000138.5(FBN1):c.4731T>A (p.Cys1577Ter) rs2141272261
NM_000138.5(FBN1):c.4733del (p.Pro1578fs)
NM_000138.5(FBN1):c.473del (p.Gly158fs) rs2140711733
NM_000138.5(FBN1):c.4745del (p.Thr1582fs) rs2043336561
NM_000138.5(FBN1):c.4747+5G>A rs193922209
NM_000138.5(FBN1):c.4747+5G>C rs193922209
NM_000138.5(FBN1):c.4766G>T (p.Cys1589Phe) rs1555397024
NM_000138.5(FBN1):c.4767dup (p.Pro1590fs)
NM_000138.5(FBN1):c.4770_4771del (p.Gly1591fs) rs1555397022
NM_000138.5(FBN1):c.4777del (p.Glu1593fs) rs2141269976
NM_000138.5(FBN1):c.4781del (p.Gly1594fs) rs1566904011
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.478T>C (p.Cys160Arg) rs1057518973
NM_000138.5(FBN1):c.478T>G (p.Cys160Gly)
NM_000138.5(FBN1):c.4796del (p.Pro1599fs) rs2141269941
NM_000138.5(FBN1):c.479G>A (p.Cys160Tyr) rs1555404810
NM_000138.5(FBN1):c.479G>C (p.Cys160Ser)
NM_000138.5(FBN1):c.4811T>A (p.Leu1604Ter)
NM_000138.5(FBN1):c.4813del (p.Glu1605fs) rs1555397016
NM_000138.5(FBN1):c.4815del (p.Asp1606fs) rs2141269914
NM_000138.5(FBN1):c.4816+1G>C rs1555397014
NM_000138.5(FBN1):c.4816+1G>T rs1555397014
NM_000138.5(FBN1):c.4816+2T>C rs1597547226
NM_000138.5(FBN1):c.4817-1G>C
NM_000138.5(FBN1):c.4817-1_4819del rs2141269777
NM_000138.5(FBN1):c.4825G>T (p.Glu1609Ter) rs2141269766
NM_000138.5(FBN1):c.4829_4838dup (p.Leu1616fs) rs1597547075
NM_000138.5(FBN1):c.4852C>T (p.Gln1618Ter) rs2141269730
NM_000138.5(FBN1):c.4863_4865dup (p.Cys1622Ter) rs2043314669
NM_000138.5(FBN1):c.4864T>C (p.Cys1622Arg)
NM_000138.5(FBN1):c.4875del (p.Phe1626fs)
NM_000138.5(FBN1):c.4878del (p.Phe1626fs) rs2043314537
NM_000138.5(FBN1):c.4881del (p.Ser1628fs) rs2043314519
NM_000138.5(FBN1):c.4888C>T (p.Gln1630Ter) rs794728231
NM_000138.5(FBN1):c.4888del (p.Gln1630fs) rs1555397000
NM_000138.5(FBN1):c.4893C>A (p.Cys1631Ter) rs1597547030
NM_000138.5(FBN1):c.4898G>A (p.Cys1633Tyr) rs1555396993
NM_000138.5(FBN1):c.4907del (p.Gly1636fs)
NM_000138.5(FBN1):c.4911C>A (p.Tyr1637Ter) rs1566903921
NM_000138.5(FBN1):c.4914C>A (p.Tyr1638Ter) rs1555396991
NM_000138.5(FBN1):c.4915del (p.Tyr1638_Leu1639insTer) rs2141269593
NM_000138.5(FBN1):c.491del (p.Asn164fs) rs2044515447
NM_000138.5(FBN1):c.4926_4927del (p.Arg1644fs) rs1555396990
NM_000138.5(FBN1):c.4930C>T (p.Arg1644Ter) rs140630
NM_000138.5(FBN1):c.4936T>A (p.Cys1646Ser) rs1064793115
NM_000138.5(FBN1):c.493C>T (p.Arg165Ter) rs113905529
NM_000138.5(FBN1):c.4942+1G>A rs1566903907
NM_000138.5(FBN1):c.4942+2T>C rs2141269534
NM_000138.5(FBN1):c.4942+2T>G
NM_000138.5(FBN1):c.4942G>A (p.Asp1648Asn) rs397515816
NM_000138.5(FBN1):c.4943-1G>A rs1555396863
NM_000138.5(FBN1):c.4943-1G>C rs1555396863
NM_000138.5(FBN1):c.4955G>A (p.Cys1652Tyr) rs397515817
NM_000138.5(FBN1):c.4955G>C (p.Cys1652Ser)
NM_000138.5(FBN1):c.4956del (p.Cys1652fs) rs886038979
NM_000138.5(FBN1):c.4962del (p.Pro1655fs)
NM_000138.5(FBN1):c.4965del (p.Gly1656fs) rs1555396861
NM_000138.5(FBN1):c.496T>A (p.Cys166Ser) rs363852
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg) rs363852
NM_000138.5(FBN1):c.4971_4972del (p.Ile1657fs) rs2141267737
NM_000138.5(FBN1):c.4973G>A (p.Cys1658Tyr) rs1555396859
NM_000138.5(FBN1):c.4974_4975del (p.Cys1658fs) rs1555396858
NM_000138.5(FBN1):c.497G>A (p.Cys166Tyr) rs397515818
NM_000138.5(FBN1):c.4987T>C (p.Cys1663Arg) rs137854459
NM_000138.5(FBN1):c.4988G>T (p.Cys1663Phe) rs1555396853
NM_000138.5(FBN1):c.4989_4990insGGTCCAGGGTCCTGGAATCTGTGGTCCAGGT (p.Tyr1664fs)
NM_000138.5(FBN1):c.4994A>C (p.Asn1665Thr)
NM_000138.5(FBN1):c.5009_5020del (p.Tyr1670_Ile1673del)
NM_000138.5(FBN1):c.5013_5031del (p.Cys1672fs)
NM_000138.5(FBN1):c.5014T>C (p.Cys1672Arg)
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly) rs112930491
NM_000138.5(FBN1):c.5015G>A (p.Cys1672Tyr) rs140627
NM_000138.5(FBN1):c.5015G>C (p.Cys1672Ser) rs140627
NM_000138.5(FBN1):c.5015G>T (p.Cys1672Phe) rs140627
NM_000138.5(FBN1):c.5016T>A (p.Cys1672Ter) rs1555396848
NM_000138.5(FBN1):c.5016dup (p.Ile1673fs) rs869025426
NM_000138.5(FBN1):c.5021G>A (p.Cys1674Tyr) rs794728233
NM_000138.5(FBN1):c.5021_5022del (p.Cys1674fs)
NM_000138.5(FBN1):c.502T>A (p.Cys168Ser) rs2044515247
NM_000138.5(FBN1):c.502T>C (p.Cys168Arg) rs2044515247
NM_000138.5(FBN1):c.5038C>T (p.Gln1680Ter) rs878853685
NM_000138.5(FBN1):c.503G>A (p.Cys168Tyr) rs1555404803
NM_000138.5(FBN1):c.5054del (p.Asn1685fs)
NM_000138.5(FBN1):c.5057del (p.Asn1686fs) rs1597545836
NM_000138.5(FBN1):c.5061C>A (p.Cys1687Ter) rs1555396838
NM_000138.5(FBN1):c.5062del (p.Met1688fs) rs1555396837
NM_000138.5(FBN1):c.5065+1G>A rs1296209846
NM_000138.5(FBN1):c.5065+1G>C rs1296209846
NM_000138.5(FBN1):c.5065+1G>T rs1296209846
NM_000138.5(FBN1):c.5065+2dup rs1555396835
NM_000138.5(FBN1):c.5066-1G>A rs397515819
NM_000138.5(FBN1):c.5066-1G>C rs397515819
NM_000138.5(FBN1):c.5066-1G>T rs397515819
NM_000138.5(FBN1):c.5066del (p.Asp1689fs) rs727504347
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.5084G>A (p.Cys1695Tyr)
NM_000138.5(FBN1):c.5087A>G (p.Tyr1696Cys) rs387906625
NM_000138.5(FBN1):c.5093del (p.Asn1698fs) rs1597545309
NM_000138.5(FBN1):c.5094del (p.Tyr1699fs) rs1060501031
NM_000138.5(FBN1):c.5095T>A (p.Tyr1699Asn) rs2043293738
NM_000138.5(FBN1):c.5096A>G (p.Tyr1699Cys) rs387906622
NM_000138.5(FBN1):c.5097C>G (p.Tyr1699Ter) rs368979510
NM_000138.5(FBN1):c.509dup (p.Tyr170Ter)
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter) rs111671429
NM_000138.5(FBN1):c.5111del (p.Gln1704fs) rs2141266677
NM_000138.5(FBN1):c.5117G>A (p.Cys1706Tyr)
NM_000138.5(FBN1):c.511G>T (p.Gly171Ter) rs1566934693
NM_000138.5(FBN1):c.5125G>T (p.Glu1709Ter) rs1597545257
NM_000138.5(FBN1):c.5156G>A (p.Cys1719Tyr) rs1555396769
NM_000138.5(FBN1):c.5157C>A (p.Cys1719Ter) rs2043292643
NM_000138.5(FBN1):c.5159G>A (p.Cys1720Tyr)
NM_000138.5(FBN1):c.5160C>G (p.Cys1720Trp)
NM_000138.5(FBN1):c.5162G>A (p.Cys1721Tyr) rs2043292594
NM_000138.5(FBN1):c.5174T>A (p.Ile1725Asn) rs2141266590
NM_000138.5(FBN1):c.5182G>C (p.Ala1728Pro) rs387906624
NM_000138.5(FBN1):c.5182_5183delinsTA (p.Ala1728Ter)
NM_000138.5(FBN1):c.5183C>T (p.Ala1728Val) rs1131691804
NM_000138.5(FBN1):c.5187G>A (p.Trp1729Ter) rs1597545199
NM_000138.5(FBN1):c.5189del (p.Asn1730fs) rs2043292163
NM_000138.5(FBN1):c.5190del (p.Asn1730fs) rs2043292112
NM_000138.5(FBN1):c.5196del (p.Cys1733fs) rs2043292041
NM_000138.5(FBN1):c.51_52del (p.Leu17fs) rs2140787769
NM_000138.5(FBN1):c.5203dup (p.Gln1735fs) rs1555396760
NM_000138.5(FBN1):c.5208T>A (p.Cys1736Ter) rs794728234
NM_000138.5(FBN1):c.5213_5217del (p.Ile1738fs) rs1555396757
NM_000138.5(FBN1):c.5235_5236dup (p.Thr1746fs) rs1555396638
NM_000138.5(FBN1):c.5242T>C (p.Cys1748Arg)
NM_000138.5(FBN1):c.5244T>G (p.Cys1748Trp)
NM_000138.5(FBN1):c.5244_5245del (p.Cys1748fs) rs1555396636
NM_000138.5(FBN1):c.5244_5247dup (p.Ser1750fs) rs1597543486
NM_000138.5(FBN1):c.5284G>A (p.Gly1762Ser) rs387906623
NM_000138.5(FBN1):c.5288T>A (p.Leu1763Ter)
NM_000138.5(FBN1):c.5296+1G>A
NM_000138.5(FBN1):c.5296+2T>G
NM_000138.5(FBN1):c.5296+3G>T rs2043270772
NM_000138.5(FBN1):c.5296+5G>A rs1566902515
NM_000138.5(FBN1):c.5296+5G>C rs1566902515
NM_000138.5(FBN1):c.5297-1G>A rs1555396435
NM_000138.5(FBN1):c.5305G>A (p.Glu1769Lys) rs2141260472
NM_000138.5(FBN1):c.530G>A (p.Cys177Tyr) rs113695103
NM_000138.5(FBN1):c.5311dup (p.Arg1771fs) rs1597540923
NM_000138.5(FBN1):c.5330G>A (p.Cys1777Tyr) rs1060501069
NM_000138.5(FBN1):c.5338G>A (p.Gly1780Arg)
NM_000138.5(FBN1):c.5339G>A (p.Gly1780Glu)
NM_000138.5(FBN1):c.5339G>T (p.Gly1780Val) rs2141260428
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr) rs1555396429
NM_000138.5(FBN1):c.5368C>T (p.Arg1790Ter) rs113249837
NM_000138.5(FBN1):c.5371T>C (p.Cys1791Arg) rs1555396427
NM_000138.5(FBN1):c.5371T>G (p.Cys1791Gly) rs1555396427
NM_000138.5(FBN1):c.5372G>A (p.Cys1791Tyr) rs886038848
NM_000138.5(FBN1):c.5373T>G (p.Cys1791Trp) rs1555396426
NM_000138.5(FBN1):c.5377T>A (p.Cys1793Ser) rs1555396424
NM_000138.5(FBN1):c.5377T>C (p.Cys1793Arg) rs1555396424
NM_000138.5(FBN1):c.5378G>A (p.Cys1793Tyr) rs1597540854
NM_000138.5(FBN1):c.538+2T>C rs1555404799
NM_000138.5(FBN1):c.5387del (p.Gly1796fs) rs2043240342
NM_000138.5(FBN1):c.539-2A>G rs2141358521
NM_000138.5(FBN1):c.5396dup (p.Tyr1799Ter)
NM_000138.5(FBN1):c.5416T>C (p.Cys1806Arg) rs1555396419
NM_000138.5(FBN1):c.5416del (p.Cys1806fs) rs1057518912
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe) rs1555396418
NM_000138.5(FBN1):c.5418T>G (p.Cys1806Trp) rs2043239853
NM_000138.5(FBN1):c.5422+1G>A rs1064793116
NM_000138.5(FBN1):c.5422+2T>C rs1555396417
NM_000138.5(FBN1):c.5423-1G>C
NM_000138.5(FBN1):c.5423-2A>G rs1566900540
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys) rs761857514
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter) rs761857514
NM_000138.5(FBN1):c.5434T>A (p.Cys1812Ser)
NM_000138.5(FBN1):c.5434T>C (p.Cys1812Arg) rs1597537935
NM_000138.5(FBN1):c.5435_5436del (p.Cys1812fs)
NM_000138.5(FBN1):c.5437C>T (p.Gln1813Ter) rs397515821
NM_000138.5(FBN1):c.543C>G (p.Tyr181Ter) rs1597593852
NM_000138.5(FBN1):c.5444del (p.Gly1815fs) rs2141256088
NM_000138.5(FBN1):c.5447del (p.Pro1816fs)
NM_000138.5(FBN1):c.5453G>A (p.Cys1818Tyr) rs2141256069
NM_000138.5(FBN1):c.5459_5465del (p.Arg1820fs)
NM_000138.5(FBN1):c.5467_5474dup (p.Ile1825fs) rs2141256027
NM_000138.5(FBN1):c.5470T>C (p.Cys1824Arg) rs1131691478
NM_000138.5(FBN1):c.5470_5483dup (p.Gly1829fs) rs1555396202
NM_000138.5(FBN1):c.5471G>T (p.Cys1824Phe) rs1597537858
NM_000138.5(FBN1):c.5486dup (p.Ser1830fs)
NM_000138.5(FBN1):c.5493C>A (p.Tyr1831Ter) rs1555396201
NM_000138.5(FBN1):c.5493C>G (p.Tyr1831Ter) rs1555396201
NM_000138.5(FBN1):c.5498G>A (p.Cys1833Tyr) rs1597537815
NM_000138.5(FBN1):c.5503T>A (p.Cys1835Ser) rs1555396198
NM_000138.5(FBN1):c.5503T>C (p.Cys1835Arg) rs1555396198
NM_000138.5(FBN1):c.5503_5517del (p.Cys1835_Tyr1839del) rs2141255919
NM_000138.5(FBN1):c.5504G>A (p.Cys1835Tyr) rs111929350
NM_000138.5(FBN1):c.5504G>C (p.Cys1835Ser) rs111929350
NM_000138.5(FBN1):c.5513G>A (p.Gly1838Asp) rs78970689
NM_000138.5(FBN1):c.5513del (p.Gly1838fs) rs2141255941
NM_000138.5(FBN1):c.551del (p.Gly184fs)
NM_000138.5(FBN1):c.5520del (p.Phe1841fs) rs1555396188
NM_000138.5(FBN1):c.5533G>T (p.Gly1845Ter)
NM_000138.5(FBN1):c.5534del (p.Gly1845fs) rs2141255875
NM_000138.5(FBN1):c.5536C>T (p.Gln1846Ter) rs1566900473
NM_000138.5(FBN1):c.5536del (p.Gln1846fs) rs886039167
NM_000138.5(FBN1):c.5540G>A (p.Cys1847Tyr) rs1555396185
NM_000138.5(FBN1):c.5546-1G>A rs1566899590
NM_000138.5(FBN1):c.5555A>G (p.Glu1852Gly) rs864622676
NM_000138.5(FBN1):c.5557T>A (p.Cys1853Ser) rs1555395990
NM_000138.5(FBN1):c.5557T>C (p.Cys1853Arg) rs1555395990
NM_000138.5(FBN1):c.5558G>A (p.Cys1853Tyr) rs1555395989
NM_000138.5(FBN1):c.5558G>C (p.Cys1853Ser) rs1555395989
NM_000138.5(FBN1):c.5559T>G (p.Cys1853Trp)
NM_000138.5(FBN1):c.5560C>T (p.Gln1854Ter) rs2141252259
NM_000138.5(FBN1):c.5563G>T (p.Glu1855Ter)
NM_000138.5(FBN1):c.5571del (p.Asn1858fs) rs1597535305
NM_000138.5(FBN1):c.5577dup (p.Cys1860fs)
NM_000138.5(FBN1):c.5578T>C (p.Cys1860Arg)
NM_000138.5(FBN1):c.5579G>A (p.Cys1860Tyr) rs1597535300
NM_000138.5(FBN1):c.558T>A (p.Cys186Ter) rs1555401699
NM_000138.5(FBN1):c.5590C>T (p.Gln1864Ter) rs1555395985
NM_000138.5(FBN1):c.5593T>C (p.Cys1865Arg) rs1555395984
NM_000138.5(FBN1):c.5607dup (p.Gly1870fs)
NM_000138.5(FBN1):c.5612_5613del (p.Ser1871fs) rs1555395981
NM_000138.5(FBN1):c.5613del (p.Tyr1873fs) rs1566899541
NM_000138.5(FBN1):c.5627G>A (p.Cys1876Tyr) rs112728248
NM_000138.5(FBN1):c.5627G>C (p.Cys1876Ser) rs112728248
NM_000138.5(FBN1):c.5635_5636del (p.Gly1879fs) rs1555395978
NM_000138.5(FBN1):c.5636G>A (p.Gly1879Asp) rs2043178850
NM_000138.5(FBN1):c.5656C>T (p.Gln1886Ter)
NM_000138.5(FBN1):c.5657_5665delinsGC (p.Gln1886fs)
NM_000138.5(FBN1):c.565del (p.Thr188_Val189insTer) rs2141358467
NM_000138.5(FBN1):c.5666G>T (p.Cys1889Phe) rs1566899500
NM_000138.5(FBN1):c.5667C>G (p.Cys1889Trp)
NM_000138.5(FBN1):c.5671+1G>A rs112104270
NM_000138.5(FBN1):c.5671+1G>T rs112104270
NM_000138.5(FBN1):c.5671+2T>C
NM_000138.5(FBN1):c.5671G>A (p.Asp1891Asn) rs193922216
NM_000138.5(FBN1):c.5672-1G>A rs1555395849
NM_000138.5(FBN1):c.5672-2A>G rs1060501053
NM_000138.5(FBN1):c.5674del (p.Asp1891_Ile1892insTer)
NM_000138.5(FBN1):c.5675_5676del (p.Ile1892fs) rs1597533713
NM_000138.5(FBN1):c.5683T>C (p.Cys1895Arg) rs878853686
NM_000138.5(FBN1):c.5684G>A (p.Cys1895Tyr)
NM_000138.5(FBN1):c.5684del (p.Cys1895fs) rs1555395846
NM_000138.5(FBN1):c.5688_5689del (p.Asp1898fs) rs1555395843
NM_000138.5(FBN1):c.5688_5691del (p.Arg1897fs) rs1566898828
NM_000138.5(FBN1):c.5695del (p.Ala1899fs) rs2043163540
NM_000138.5(FBN1):c.5698T>C (p.Cys1900Arg)
NM_000138.5(FBN1):c.5699G>A (p.Cys1900Tyr) rs794728237
NM_000138.5(FBN1):c.5699G>T (p.Cys1900Phe) rs794728237
NM_000138.5(FBN1):c.5703del (p.Asn1902fs)
NM_000138.5(FBN1):c.5714G>C (p.Cys1905Ser) rs112655848
NM_000138.5(FBN1):c.5714G>T (p.Cys1905Phe)
NM_000138.5(FBN1):c.5716del (p.Arg1906fs) rs2141250394
NM_000138.5(FBN1):c.5720del (p.Asn1907fs) rs886038959
NM_000138.5(FBN1):c.5726T>C (p.Ile1909Thr) rs794728333
NM_000138.5(FBN1):c.5729G>T (p.Gly1910Val)
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys) rs1555395826
NM_000138.5(FBN1):c.5746T>G (p.Cys1916Gly) rs794728238
NM_000138.5(FBN1):c.5747G>A (p.Cys1916Tyr) rs397515827
NM_000138.5(FBN1):c.5747G>T (p.Cys1916Phe) rs397515827
NM_000138.5(FBN1):c.5756del (p.Gly1919fs) rs1555395825
NM_000138.5(FBN1):c.577_583delinsAA (p.Gln193fs) rs2044026528
NM_000138.5(FBN1):c.577del (p.Gln193fs) rs1555401697
NM_000138.5(FBN1):c.5782T>C (p.Cys1928Arg) rs2043162224
NM_000138.5(FBN1):c.5783G>A (p.Cys1928Tyr) rs587782947
NM_000138.5(FBN1):c.5783G>T (p.Cys1928Phe) rs587782947
NM_000138.5(FBN1):c.5788+1G>A rs1555395819
NM_000138.5(FBN1):c.5788+6T>G rs1566898741
NM_000138.5(FBN1):c.5788G>A (p.Asp1930Asn) rs1555395820
NM_000138.5(FBN1):c.5788G>C (p.Asp1930His) rs1555395820
NM_000138.5(FBN1):c.5789-1G>A rs2043152080
NM_000138.5(FBN1):c.5789-2A>G rs886038790
NM_000138.5(FBN1):c.5800T>A (p.Cys1934Ser) rs1555395767
NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg) rs1555395767
NM_000138.5(FBN1):c.5801G>A (p.Cys1934Tyr) rs794728240
NM_000138.5(FBN1):c.5801G>C (p.Cys1934Ser) rs794728240
NM_000138.5(FBN1):c.5802T>G (p.Cys1934Trp) rs2141249297
NM_000138.5(FBN1):c.5809G>T (p.Gly1937Ter) rs1555395766
NM_000138.5(FBN1):c.5817del (p.Asn1940fs) rs794728311
NM_000138.5(FBN1):c.5823_5824del (p.Cys1942fs) rs1060501089
NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg) rs1555395762
NM_000138.5(FBN1):c.5825G>C (p.Cys1942Ser) rs794728241
NM_000138.5(FBN1):c.5826C>A (p.Cys1942Ter) rs363806
NM_000138.5(FBN1):c.5831del (p.Asn1944fs)
NM_000138.5(FBN1):c.5836C>T (p.Gln1946Ter)
NM_000138.5(FBN1):c.5836del (p.Gln1946fs) rs2141249251
NM_000138.5(FBN1):c.5839T>A (p.Cys1947Ser) rs1131691938
NM_000138.5(FBN1):c.5839T>G (p.Cys1947Gly) rs1131691938
NM_000138.5(FBN1):c.5840G>A (p.Cys1947Tyr) rs397515828
NM_000138.5(FBN1):c.5846_5850dup (p.Val1951fs) rs2043151379
NM_000138.5(FBN1):c.5856del (p.Ser1953fs)
NM_000138.5(FBN1):c.5857dup (p.Ser1953fs) rs1555395757
NM_000138.5(FBN1):c.5860_5863dup (p.Gln1955fs) rs2043151079
NM_000138.5(FBN1):c.5861del (p.Phe1954fs) rs1555395756
NM_000138.5(FBN1):c.5863C>T (p.Gln1955Ter) rs363807
NM_000138.5(FBN1):c.5863del (p.Gln1955fs) rs1555395753
NM_000138.5(FBN1):c.5872T>A (p.Cys1958Ser) rs2141249174
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter) rs1555395750
NM_000138.5(FBN1):c.5885dup (p.Tyr1962Ter)
NM_000138.5(FBN1):c.5898del (p.Asp1967fs) rs1555395747
NM_000138.5(FBN1):c.5905del (p.Arg1969fs) rs1566898399
NM_000138.5(FBN1):c.5911T>C (p.Cys1971Arg) rs1555395745
NM_000138.5(FBN1):c.5912del (p.Cys1971fs) rs2043150170
NM_000138.5(FBN1):c.5917+1G>A rs363808
NM_000138.5(FBN1):c.5917+1G>T rs363808
NM_000138.5(FBN1):c.5918-1G>A rs1566898144
NM_000138.5(FBN1):c.5918-1G>C rs1566898144
NM_000138.5(FBN1):c.5918-2A>G rs869025418
NM_000138.5(FBN1):c.5926del (p.Glu1976fs)
NM_000138.5(FBN1):c.5927A>C (p.Glu1976Ala) rs1555395665
NM_000138.5(FBN1):c.592C>T (p.Gln198Ter) rs1060501035
NM_000138.5(FBN1):c.5930G>A (p.Cys1977Tyr) rs1555395663
NM_000138.5(FBN1):c.5931T>A (p.Cys1977Ter)
NM_000138.5(FBN1):c.5937_5938insT (p.Glu1980Ter) rs2141248157
NM_000138.5(FBN1):c.5943del (p.Arg1982fs) rs1555395661
NM_000138.5(FBN1):c.5950T>C (p.Cys1984Arg) rs1555395659
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr) rs1555395658
NM_000138.5(FBN1):c.5956_5957insA (p.Pro1986fs) rs2141248130
NM_000138.5(FBN1):c.595del (p.Leu199fs)
NM_000138.5(FBN1):c.5960G>C (p.Gly1987Ala) rs2043140093
NM_000138.5(FBN1):c.5961dup (p.Thr1988fs) rs1555395653
NM_000138.5(FBN1):c.5966G>T (p.Cys1989Phe) rs1597531796
NM_000138.5(FBN1):c.5967T>G (p.Cys1989Trp) rs1555395652
NM_000138.5(FBN1):c.5971_5972del (p.Asn1991fs)
NM_000138.5(FBN1):c.5978del (p.Asp1993fs) rs2043139896
NM_000138.5(FBN1):c.5988C>A (p.Tyr1996Ter)
NM_000138.5(FBN1):c.5992T>A (p.Cys1998Ser) rs2141248056
NM_000138.5(FBN1):c.5993G>A (p.Cys1998Tyr) rs1085307531
NM_000138.5(FBN1):c.5994C>G (p.Cys1998Trp) rs1555395648
NM_000138.5(FBN1):c.5998del (p.Cys2000fs) rs1367820520
NM_000138.5(FBN1):c.6012_6013del (p.Tyr2004_Ser2005delinsTer)
NM_000138.5(FBN1):c.6023del (p.Asn2008fs) rs1555395640
NM_000138.5(FBN1):c.6029del (p.Lys2010fs) rs2141248004
NM_000138.5(FBN1):c.6030del (p.Lys2010fs)
NM_000138.5(FBN1):c.6031T>C (p.Cys2011Arg) rs2141248001
NM_000138.5(FBN1):c.6032G>A (p.Cys2011Tyr) rs886038967
NM_000138.5(FBN1):c.6034G>T (p.Glu2012Ter) rs2141247988
NM_000138.5(FBN1):c.6037+2T>C rs2043139226
NM_000138.5(FBN1):c.6038-1G>A rs1555395489
NM_000138.5(FBN1):c.603del (p.Ile202fs) rs2141358361
NM_000138.5(FBN1):c.6046G>A (p.Glu2016Lys) rs2141245531
NM_000138.5(FBN1):c.6048_6056del (p.Cys2017_Glu2019del) rs1555395483
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg) rs1555395486
NM_000138.5(FBN1):c.6050G>A (p.Cys2017Tyr) rs2141245523
NM_000138.5(FBN1):c.6051T>G (p.Cys2017Trp) rs1566897420
NM_000138.5(FBN1):c.6052_6053del (p.Val2018fs) rs2043117611
NM_000138.5(FBN1):c.6053del (p.Val2018fs)
NM_000138.5(FBN1):c.6059_6080del (p.Glu2020fs)
NM_000138.5(FBN1):c.6064G>T (p.Glu2022Ter) rs1555395482
NM_000138.5(FBN1):c.6067del (p.Ile2023fs) rs1597529841
NM_000138.5(FBN1):c.6068_6069insCCCTT (p.Cys2024fs) rs2141245482
NM_000138.5(FBN1):c.6071G>A (p.Cys2024Tyr) rs1597529826
NM_000138.5(FBN1):c.6071G>T (p.Cys2024Phe) rs1597529826
NM_000138.5(FBN1):c.6087C>A (p.Cys2029Ter) rs1555395475
NM_000138.5(FBN1):c.6090dup (p.Asn2031Ter) rs1597529775
NM_000138.5(FBN1):c.609_630del (p.Cys204fs)
NM_000138.5(FBN1):c.6113G>T (p.Cys2038Phe)
NM_000138.5(FBN1):c.6113del (p.Cys2038fs) rs2141245408
NM_000138.5(FBN1):c.6119G>A (p.Cys2040Tyr) rs397515830
NM_000138.5(FBN1):c.6120T>G (p.Cys2040Trp)
NM_000138.5(FBN1):c.6121_6130del (p.Pro2041fs) rs2043116708
NM_000138.5(FBN1):c.6126del (p.Ser2045fs)
NM_000138.5(FBN1):c.6139del (p.Ser2047fs) rs2043116624
NM_000138.5(FBN1):c.6145del (p.Ser2049fs)
NM_000138.5(FBN1):c.6146_6150del (p.Ser2049fs) rs1555395461
NM_000138.5(FBN1):c.6149del (p.Gly2050fs) rs1597529686
NM_000138.5(FBN1):c.6151A>T (p.Arg2051Ter)
NM_000138.5(FBN1):c.6151dup (p.Arg2051fs)
NM_000138.5(FBN1):c.6157T>A (p.Cys2053Ser)
NM_000138.5(FBN1):c.6158G>A (p.Cys2053Tyr) rs363805
NM_000138.5(FBN1):c.6159C>A (p.Cys2053Ter) rs1060501095
NM_000138.5(FBN1):c.6160C>T (p.Gln2054Ter) rs1555395456
NM_000138.5(FBN1):c.6164-1G>A rs1060501048
NM_000138.5(FBN1):c.6164-1G>T
NM_000138.5(FBN1):c.6164-3_6164-1del rs2043085905
NM_000138.5(FBN1):c.6169C>T (p.Arg2057Ter) rs763091520
NM_000138.5(FBN1):c.616A>T (p.Lys206Ter) rs2044026093
NM_000138.5(FBN1):c.6180C>A (p.Tyr2060Ter)
NM_000138.5(FBN1):c.6180C>G (p.Tyr2060Ter) rs974604498
NM_000138.5(FBN1):c.6199G>T (p.Gly2067Ter) rs1342803259
NM_000138.5(FBN1):c.619dup (p.Thr207fs) rs1555401689
NM_000138.5(FBN1):c.6215C>A (p.Ser2072Ter) rs2043085394
NM_000138.5(FBN1):c.6219del (p.Lys2074fs) rs2141241529
NM_000138.5(FBN1):c.621del (p.Leu208fs) rs2141358303
NM_000138.5(FBN1):c.6244G>T (p.Glu2082Ter) rs1052480459
NM_000138.5(FBN1):c.6249_6254del (p.Cys2084_Cys2085del) rs2141241487
NM_000138.5(FBN1):c.6250_6253dup (p.Cys2085fs)
NM_000138.5(FBN1):c.6253T>G (p.Cys2085Gly) rs2141241496
NM_000138.5(FBN1):c.6266del (p.Gly2089fs) rs1597526729
NM_000138.5(FBN1):c.6268G>T (p.Glu2090Ter) rs1304643689
NM_000138.5(FBN1):c.626G>C (p.Cys209Ser) rs1555401687
NM_000138.5(FBN1):c.626G>T (p.Cys209Phe) rs1555401687
NM_000138.5(FBN1):c.6276G>A (p.Trp2092Ter) rs1555395260
NM_000138.5(FBN1):c.6285del (p.Cys2096fs) rs2141241437
NM_000138.5(FBN1):c.6285dup (p.Cys2096fs)
NM_000138.5(FBN1):c.6296G>A (p.Cys2099Tyr) rs1131691803
NM_000138.5(FBN1):c.6297C>G (p.Cys2099Trp)
NM_000138.5(FBN1):c.6309dup (p.Asp2104Ter) rs2141241409
NM_000138.5(FBN1):c.6313+1G>A rs2141241397
NM_000138.5(FBN1):c.6313+3A>G rs1555395256
NM_000138.5(FBN1):c.6313+5G>A rs878853688
NM_000138.5(FBN1):c.6313G>T (p.Glu2105Ter) rs794728247
NM_000138.5(FBN1):c.6314-2A>C rs2141240964
NM_000138.5(FBN1):c.6320dup (p.Arg2108fs) rs2043081795
NM_000138.5(FBN1):c.6322del (p.Arg2108fs) rs2141240943
NM_000138.5(FBN1):c.6325C>T (p.Gln2109Ter) rs1555395229
NM_000138.5(FBN1):c.6327del (p.Ile2110fs) rs1555395228
NM_000138.5(FBN1):c.6331T>G (p.Cys2111Gly) rs363815
NM_000138.5(FBN1):c.6331del (p.Cys2111fs)
NM_000138.5(FBN1):c.6332G>A (p.Cys2111Tyr) rs1131691467
NM_000138.5(FBN1):c.6338dup (p.Tyr2113Ter) rs2141240902
NM_000138.5(FBN1):c.6339T>G (p.Tyr2113Ter) rs267606797
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met) rs112989722
NM_000138.5(FBN1):c.635_636del (p.Thr212fs) rs1566922422
NM_000138.5(FBN1):c.6371C>G (p.Ser2124Ter) rs1190410675
NM_000138.5(FBN1):c.6379+1G>A rs397515833
NM_000138.5(FBN1):c.6380-1G>T rs1597526073
NM_000138.5(FBN1):c.6388G>A (p.Glu2130Lys) rs794728334
NM_000138.5(FBN1):c.6388G>T (p.Glu2130Ter) rs794728334
NM_000138.5(FBN1):c.6391T>A (p.Cys2131Ser) rs1555395210
NM_000138.5(FBN1):c.6391T>C (p.Cys2131Arg) rs1555395210
NM_000138.5(FBN1):c.6392del (p.Cys2131fs) rs2141240489
NM_000138.5(FBN1):c.6393C>G (p.Cys2131Trp) rs61730051
NM_000138.5(FBN1):c.6402dup (p.Asp2135fs) rs1555395209
NM_000138.5(FBN1):c.6409T>G (p.Cys2137Gly) rs2141240456
NM_000138.5(FBN1):c.640G>A (p.Gly214Ser) rs794728162
NM_000138.5(FBN1):c.6410G>A (p.Cys2137Tyr) rs1555395206
NM_000138.5(FBN1):c.6410G>C (p.Cys2137Ser) rs1555395206
NM_000138.5(FBN1):c.6412_6441del (p.Lys2138_Gly2147del) rs1566896070
NM_000138.5(FBN1):c.6414del (p.Lys2138fs) rs1555395205
NM_000138.5(FBN1):c.6416del (p.His2139fs)
NM_000138.5(FBN1):c.6418G>A (p.Gly2140Arg) rs794728249
NM_000138.5(FBN1):c.6423del (p.Gln2141fs) rs2141240428
NM_000138.5(FBN1):c.6424T>C (p.Cys2142Arg) rs1555395203
NM_000138.5(FBN1):c.6424T>G (p.Cys2142Gly)
NM_000138.5(FBN1):c.6425G>A (p.Cys2142Tyr) rs794728335
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser) rs137854461
NM_000138.5(FBN1):c.643C>T (p.Arg215Ter) rs111687884
NM_000138.5(FBN1):c.6440dup (p.Ser2148fs) rs2141240388
NM_000138.5(FBN1):c.6446A>G (p.Tyr2149Cys) rs113080385
NM_000138.5(FBN1):c.6449G>T (p.Arg2150Leu) rs794728250
NM_000138.5(FBN1):c.6451T>C (p.Cys2151Arg)
NM_000138.5(FBN1):c.6452G>A (p.Cys2151Tyr) rs112464743
NM_000138.5(FBN1):c.6453C>T (p.Cys2151=) rs794728251
NM_000138.5(FBN1):c.6454G>T (p.Glu2152Ter)
NM_000138.5(FBN1):c.6471T>A (p.Tyr2157Ter) rs1060501034
NM_000138.5(FBN1):c.6487G>T (p.Glu2163Ter) rs1555395191
NM_000138.5(FBN1):c.6491G>A (p.Cys2164Tyr) rs1555395189
NM_000138.5(FBN1):c.6492T>A (p.Cys2164Ter) rs886038957
NM_000138.5(FBN1):c.6496+1G>A rs1555395188
NM_000138.5(FBN1):c.6496+1G>T rs1555395188
NM_000138.5(FBN1):c.6496+1del rs1597525871
NM_000138.5(FBN1):c.6496+2T>G rs1555395187
NM_000138.5(FBN1):c.6496G>A (p.Asp2166Asn) rs794728252
NM_000138.5(FBN1):c.6497-2A>G
NM_000138.5(FBN1):c.6509G>A (p.Cys2170Tyr) rs363821
NM_000138.5(FBN1):c.650G>A (p.Trp217Ter) rs1555401686
NM_000138.5(FBN1):c.6515_6516delinsG (p.Val2172fs) rs397515834
NM_000138.5(FBN1):c.651G>A (p.Trp217Ter)
NM_000138.5(FBN1):c.6528T>A (p.Cys2176Ter)
NM_000138.5(FBN1):c.653del (p.Gly218fs)
NM_000138.5(FBN1):c.653dup (p.His219fs)
NM_000138.5(FBN1):c.6541del (p.Cys2181fs) rs1060501059
NM_000138.5(FBN1):c.6550_6553del (p.Val2184fs) rs2141237105
NM_000138.5(FBN1):c.6554T>C (p.Ile2185Thr) rs910656654
NM_000138.5(FBN1):c.6564_6565insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCGATTGGAGGTTTT (p.Glu2189delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerProPheTer)
NM_000138.5(FBN1):c.6576C>A (p.Cys2192Ter)
NM_000138.5(FBN1):c.6583G>A (p.Gly2195Arg) rs886038976
NM_000138.5(FBN1):c.6583G>T (p.Gly2195Ter) rs886038976
NM_000138.5(FBN1):c.6584G>T (p.Gly2195Val) rs1597523768
NM_000138.5(FBN1):c.6590del (p.Glu2197fs)
NM_000138.5(FBN1):c.6609_6610del (p.Thr2203_Cys2204insTer) rs1555395002
NM_000138.5(FBN1):c.660_661del (p.Pro220_Cys221insTer) rs1555401679
NM_000138.5(FBN1):c.660del (p.Cys221fs) rs727505269
NM_000138.5(FBN1):c.660dup (p.Cys221fs)
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg) rs1555395001
NM_000138.5(FBN1):c.6611G>A (p.Cys2204Tyr) rs886039158
NM_000138.5(FBN1):c.6613dup (p.Glu2205fs) rs1566895225
NM_000138.5(FBN1):c.6616+1G>A rs1064793980
NM_000138.5(FBN1):c.6616+1G>C rs1064793980
NM_000138.5(FBN1):c.6616+2T>C rs2141236949
NM_000138.5(FBN1):c.6617-12_6630del
NM_000138.5(FBN1):c.6617-1G>T
NM_000138.5(FBN1):c.661del (p.Cys221fs) rs1597593695
NM_000138.5(FBN1):c.6623_6627del (p.Asn2208fs) rs1597522572
NM_000138.5(FBN1):c.6623dup (p.Asn2208fs)
NM_000138.5(FBN1):c.6625del (p.Glu2209fs) rs2141235258
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr) rs2141235242
NM_000138.5(FBN1):c.6629_6639dup (p.Pro2214fs)
NM_000138.5(FBN1):c.6634C>T (p.Gln2212Ter) rs1597522553
NM_000138.5(FBN1):c.663_664del (p.Cys221_Glu222delinsTer) rs2044025276
NM_000138.5(FBN1):c.6645del (p.Leu2216fs) rs1555394928
NM_000138.5(FBN1):c.6646_6650del (p.Leu2216fs) rs1555394927
NM_000138.5(FBN1):c.6650G>A (p.Cys2217Tyr) rs794728254
NM_000138.5(FBN1):c.6650G>C (p.Cys2217Ser)
NM_000138.5(FBN1):c.6658C>T (p.Arg2220Ter) rs113001196
NM_000138.5(FBN1):c.6661T>C (p.Cys2221Arg) rs113543334
NM_000138.5(FBN1):c.6661T>G (p.Cys2221Gly)
NM_000138.5(FBN1):c.6662G>A (p.Cys2221Tyr) rs137854460
NM_000138.5(FBN1):c.6662G>C (p.Cys2221Ser) rs137854460
NM_000138.5(FBN1):c.6663T>G (p.Cys2221Trp) rs2141235147
NM_000138.5(FBN1):c.6670_6671del (p.Thr2224fs) rs1597522485
NM_000138.5(FBN1):c.6673del (p.Tyr2225fs) rs2141235124
NM_000138.5(FBN1):c.6675T>G (p.Tyr2225Ter) rs1260533788
NM_000138.5(FBN1):c.6675del (p.Thr2224_Tyr2225insTer)
NM_000138.5(FBN1):c.6678del (p.Ser2227fs) rs2141235101
NM_000138.5(FBN1):c.6682dup (p.Tyr2228fs) rs886044547
NM_000138.5(FBN1):c.6693del (p.Lys2231fs) rs1555394901
NM_000138.5(FBN1):c.6694T>A (p.Cys2232Ser) rs869025411
NM_000138.5(FBN1):c.6694T>C (p.Cys2232Arg) rs869025411
NM_000138.5(FBN1):c.6695G>A (p.Cys2232Tyr) rs1060501054
NM_000138.5(FBN1):c.6695G>C (p.Cys2232Ser) rs1060501054
NM_000138.5(FBN1):c.6699del (p.Val2234fs) rs1597522415
NM_000138.5(FBN1):c.6701dup (p.Tyr2236fs) rs1597522390
NM_000138.5(FBN1):c.670del (p.Cys224fs)
NM_000138.5(FBN1):c.6718G>T (p.Glu2240Ter)
NM_000138.5(FBN1):c.6718_6719del (p.Glu2240fs) rs2043034865
NM_000138.5(FBN1):c.671G>A (p.Cys224Tyr) rs1566922396
NM_000138.5(FBN1):c.6728_6737del (p.Arg2243fs) rs2141234945
NM_000138.5(FBN1):c.6733T>C (p.Cys2245Arg)
NM_000138.5(FBN1):c.6734G>A (p.Cys2245Tyr) rs2043034575
NM_000138.5(FBN1):c.6735C>A (p.Cys2245Ter) rs2043034543
NM_000138.5(FBN1):c.6739+1G>A rs869025419
NM_000138.5(FBN1):c.6739+1G>C rs869025419
NM_000138.5(FBN1):c.6739+1G>T
NM_000138.5(FBN1):c.6739+2T>A rs730880107
NM_000138.5(FBN1):c.6740-1G>A rs1555394781
NM_000138.5(FBN1):c.6740-1G>C
NM_000138.5(FBN1):c.6740-1G>T rs1555394781
NM_000138.5(FBN1):c.6740-2A>G rs2141232714
NM_000138.5(FBN1):c.6740-2del rs1555394783
NM_000138.5(FBN1):c.6740A>G (p.Asp2247Gly) rs1060501032
NM_000138.5(FBN1):c.6751T>A (p.Cys2251Ser) rs112836174
NM_000138.5(FBN1):c.6751T>C (p.Cys2251Arg) rs112836174
NM_000138.5(FBN1):c.6751del (p.Cys2251fs) rs1597520781
NM_000138.5(FBN1):c.6752G>T (p.Cys2251Phe) rs794728256
NM_000138.5(FBN1):c.6753T>G (p.Cys2251Trp)
NM_000138.5(FBN1):c.6757G>T (p.Glu2253Ter) rs1245476075
NM_000138.5(FBN1):c.6761del (p.Gly2254fs) rs1555394780
NM_000138.5(FBN1):c.6769_6770dup (p.Asp2257fs) rs2141232648
NM_000138.5(FBN1):c.6769_6773del (p.Asp2257fs) rs2141232639
NM_000138.5(FBN1):c.6772T>C (p.Cys2258Arg) rs1057520617
NM_000138.5(FBN1):c.6773G>C (p.Cys2258Ser)
NM_000138.5(FBN1):c.6773_6774del (p.Cys2258fs) rs1555394777
NM_000138.5(FBN1):c.6780_6783del (p.Glu2260fs)
NM_000138.5(FBN1):c.6783_6784insT (p.Gln2262fs) rs2043017815
NM_000138.5(FBN1):c.6783dup (p.Gln2262fs) rs2141232621
NM_000138.5(FBN1):c.6784C>T (p.Gln2262Ter) rs1060501023
NM_000138.5(FBN1):c.6786_6787del (p.Gln2262fs) rs1555394776
NM_000138.5(FBN1):c.6790G>T (p.Glu2264Ter)
NM_000138.5(FBN1):c.6793T>A (p.Cys2265Ser) rs1057522272
NM_000138.5(FBN1):c.6793T>G (p.Cys2265Gly) rs1057522272
NM_000138.5(FBN1):c.6794G>A (p.Cys2265Tyr) rs1057520679
NM_000138.5(FBN1):c.679C>T (p.Gln227Ter) rs2044025100
NM_000138.5(FBN1):c.6800A>T (p.Asn2267Ile) rs1057518812
NM_000138.5(FBN1):c.6800del (p.Asn2267fs) rs1566894288
NM_000138.5(FBN1):c.6801C>G (p.Asn2267Lys) rs886051245
NM_000138.5(FBN1):c.6804del (p.Ile2269fs) rs1597520683
NM_000138.5(FBN1):c.680_690del (p.Gln227fs) rs1555401671
NM_000138.5(FBN1):c.6834del (p.Tyr2280fs) rs1597520619
NM_000138.5(FBN1):c.6837del (p.Tyr2280fs) rs2043017030
NM_000138.5(FBN1):c.6838dup (p.Tyr2280fs)
NM_000138.5(FBN1):c.6866G>A (p.Cys2289Tyr) rs1566894230
NM_000138.5(FBN1):c.6869del (p.Val2290fs) rs2141232407
NM_000138.5(FBN1):c.6871+1G>A rs1555394753
NM_000138.5(FBN1):c.6871+1G>T rs1555394753
NM_000138.5(FBN1):c.6872-14A>G rs1064793119
NM_000138.5(FBN1):c.6872-1G>T rs1597518951
NM_000138.5(FBN1):c.6872-3C>G rs2042999551
NM_000138.5(FBN1):c.6872-961A>G rs1597519658
NM_000138.5(FBN1):c.6883T>C (p.Cys2295Arg) rs1555394644
NM_000138.5(FBN1):c.6884G>A (p.Cys2295Tyr) rs886038949
NM_000138.5(FBN1):c.6886C>T (p.Gln2296Ter) rs727504410
NM_000138.5(FBN1):c.6886del (p.Gln2296fs) rs1555394641
NM_000138.5(FBN1):c.6896del (p.Pro2299fs) rs2141230021
NM_000138.5(FBN1):c.6905G>A (p.Cys2302Tyr) rs2042998789
NM_000138.5(FBN1):c.6906_6907del (p.Cys2302_Glu2303delinsTer) rs2141229990
NM_000138.5(FBN1):c.6916_6934del (p.Arg2306fs) rs1555394630
NM_000138.5(FBN1):c.6919T>C (p.Cys2307Arg)
NM_000138.5(FBN1):c.691del (p.Cys231fs)
NM_000138.5(FBN1):c.6920G>C (p.Cys2307Ser) rs137854457
NM_000138.5(FBN1):c.6931del (p.Arg2311fs) rs2141229950
NM_000138.5(FBN1):c.6932dup (p.Gly2312fs) rs1555394631
NM_000138.5(FBN1):c.6940_6943dup (p.Thr2315fs) rs1566893738
NM_000138.5(FBN1):c.6947G>A (p.Cys2316Tyr) rs1555394629
NM_000138.5(FBN1):c.6947G>T (p.Cys2316Phe) rs1555394629
NM_000138.5(FBN1):c.6948T>A (p.Cys2316Ter) rs1060501016
NM_000138.5(FBN1):c.6951del (p.Glu2317fs) rs2141229903
NM_000138.5(FBN1):c.6952T>C (p.Cys2318Arg) rs111588631
NM_000138.5(FBN1):c.6954dup (p.Asn2319Ter) rs1597518796
NM_000138.5(FBN1):c.6963del (p.Phe2322fs) rs1060501051
NM_000138.5(FBN1):c.6966del (p.Phe2322fs) rs1555394623
NM_000138.5(FBN1):c.6993C>A (p.Cys2331Ter) rs534811966
NM_000138.5(FBN1):c.6996del (p.Asp2333fs) rs2141229819
NM_000138.5(FBN1):c.6997+1G>A rs2042997306
NM_000138.5(FBN1):c.6997+1G>C rs2042997306
NM_000138.5(FBN1):c.6998-1G>A
NM_000138.5(FBN1):c.6998-2A>T rs1555394585
NM_000138.5(FBN1):c.7003C>T (p.Arg2335Trp) rs794728262
NM_000138.5(FBN1):c.7015T>C (p.Cys2339Arg) rs1555394581
NM_000138.5(FBN1):c.7016_7020dup (p.Thr2341fs) rs2141229138
NM_000138.5(FBN1):c.701G>A (p.Gly234Asp) rs1555401670
NM_000138.5(FBN1):c.7032_7054del (p.Asn2346fs) rs1597518038
NM_000138.5(FBN1):c.7037del (p.Asn2346fs)
NM_000138.5(FBN1):c.7039_7040del (p.Met2347fs) rs794728319
NM_000138.5(FBN1):c.7043_7044del (p.Cys2348fs) rs2141229101
NM_000138.5(FBN1):c.7054del (p.Ser2352fs)
NM_000138.5(FBN1):c.7058del (p.Ser2353fs) rs1555394574
NM_000138.5(FBN1):c.7080dup (p.Ser2361fs) rs1597517970
NM_000138.5(FBN1):c.7082C>A (p.Ser2361Ter) rs397515844
NM_000138.5(FBN1):c.7091G>C (p.Cys2364Ser)
NM_000138.5(FBN1):c.7092C>A (p.Cys2364Ter) rs1555394569
NM_000138.5(FBN1):c.7092_7093del (p.Cys2364fs) rs886038955
NM_000138.5(FBN1):c.7099G>T (p.Gly2367Ter) rs368978109
NM_000138.5(FBN1):c.7104_7105delinsTT (p.Arg2369Ter)
NM_000138.5(FBN1):c.710del (p.Pro237fs)
NM_000138.5(FBN1):c.7111T>C (p.Trp2371Arg) rs794728264
NM_000138.5(FBN1):c.7112G>A (p.Trp2371Ter) rs1555394567
NM_000138.5(FBN1):c.7113G>A (p.Trp2371Ter) rs886039063
NM_000138.5(FBN1):c.7115G>T (p.Gly2372Val) rs112369155
NM_000138.5(FBN1):c.7116dup (p.Pro2373fs) rs2141228932
NM_000138.5(FBN1):c.7119_7120insGGAC (p.His2374fs) rs1597517858
NM_000138.5(FBN1):c.7120del (p.His2374fs) rs1555394566
NM_000138.5(FBN1):c.7125T>A (p.Cys2375Ter) rs794728265
NM_000138.5(FBN1):c.7139dup (p.Gln2381fs) rs1555394561
NM_000138.5(FBN1):c.7141C>T (p.Gln2381Ter) rs869025414
NM_000138.5(FBN1):c.7151_7152del (p.Val2384fs) rs869025423
NM_000138.5(FBN1):c.7161del (p.Lys2388fs)
NM_000138.5(FBN1):c.7167_7168del (p.Cys2390fs) rs397515846
NM_000138.5(FBN1):c.7168T>A (p.Cys2390Ser) rs397515847
NM_000138.5(FBN1):c.7169G>A (p.Cys2390Tyr) rs864622754
NM_000138.5(FBN1):c.7178dup (p.Arg2394fs) rs1597517771
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000138.5(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.5(FBN1):c.7204+1G>A rs1555394557
NM_000138.5(FBN1):c.7204+1G>T rs1555394557
NM_000138.5(FBN1):c.7204+3A>G rs1057518076
NM_000138.5(FBN1):c.7204+3A>T
NM_000138.5(FBN1):c.7205-1G>A rs794728266
NM_000138.5(FBN1):c.7205-1G>C rs794728266
NM_000138.5(FBN1):c.7205-2A>G rs1555394450
NM_000138.5(FBN1):c.7217G>A (p.Cys2406Tyr) rs1131691479
NM_000138.5(FBN1):c.7221_7225del (p.Lys2407fs) rs1597516509
NM_000138.5(FBN1):c.7228_7232dup (p.Val2412fs) rs1555394445
NM_000138.5(FBN1):c.7238G>A (p.Cys2413Tyr) rs1566892915
NM_000138.5(FBN1):c.7240C>T (p.Arg2414Ter) rs112550005
NM_000138.5(FBN1):c.7244_7251del (p.Asn2415fs)
NM_000138.5(FBN1):c.7245del (p.Asn2415fs) rs2141227006
NM_000138.5(FBN1):c.7249G>T (p.Glu2417Ter) rs2042974889
NM_000138.5(FBN1):c.7251dup (p.Cys2418fs) rs1566892906
NM_000138.5(FBN1):c.7271C>A (p.Ser2424Ter)
NM_000138.5(FBN1):c.7276_7283del (p.His2426fs)
NM_000138.5(FBN1):c.7286G>T (p.Cys2429Phe) rs2141226916
NM_000138.5(FBN1):c.7287del (p.Ile2428_Cys2429insTer) rs2042974444
NM_000138.5(FBN1):c.7314del (p.Thr2440fs) rs2141226866
NM_000138.5(FBN1):c.7323del (p.Cys2442fs) rs1555394436
NM_000138.5(FBN1):c.7324T>A (p.Cys2442Ser) rs1555394435
NM_000138.5(FBN1):c.7325G>A (p.Cys2442Tyr) rs1597516347
NM_000138.5(FBN1):c.732T>A (p.Cys244Ter) rs878853689
NM_000138.5(FBN1):c.7330+1G>A rs1555394433
NM_000138.5(FBN1):c.7330+1G>T
NM_000138.5(FBN1):c.7331-1G>A
NM_000138.5(FBN1):c.7331-1_7343dup rs2042971987
NM_000138.5(FBN1):c.7331-2A>G
NM_000138.5(FBN1):c.7331A>G (p.Asp2444Gly) rs1060501093
NM_000138.5(FBN1):c.7342T>C (p.Cys2448Arg) rs1566892757
NM_000138.5(FBN1):c.7364G>A (p.Cys2455Tyr) rs1555394409
NM_000138.5(FBN1):c.7371dup (p.Ile2458fs) rs1555394407
NM_000138.5(FBN1):c.7382dup (p.Asn2461fs) rs2141226412
NM_000138.5(FBN1):c.7383del (p.Asn2461fs) rs2141226409
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter) rs1566892735
NM_000138.5(FBN1):c.7398C>A (p.Tyr2466Ter) rs1555394402
NM_000138.5(FBN1):c.7398C>G (p.Tyr2466Ter) rs1555394402
NM_000138.5(FBN1):c.7399C>T (p.Gln2467Ter) rs1566892727
NM_000138.5(FBN1):c.7402T>C (p.Cys2468Arg) rs1085308004
NM_000138.5(FBN1):c.7403G>A (p.Cys2468Tyr) rs1555394400
NM_000138.5(FBN1):c.7406C>A (p.Ser2469Ter)
NM_000138.5(FBN1):c.7408T>A (p.Cys2470Ser) rs1555394399
NM_000138.5(FBN1):c.7409G>A (p.Cys2470Tyr) rs1555394398
NM_000138.5(FBN1):c.7409G>T (p.Cys2470Phe) rs1555394398
NM_000138.5(FBN1):c.7409_7410delinsAT (p.Cys2470Tyr) rs2141226319
NM_000138.5(FBN1):c.7410C>G (p.Cys2470Trp) rs1555394397
NM_000138.5(FBN1):c.7412del (p.Pro2471fs) rs1555394396
NM_000138.5(FBN1):c.7421del (p.Tyr2474fs) rs1060501060
NM_000138.5(FBN1):c.7432G>T (p.Glu2478Ter) rs537570299
NM_000138.5(FBN1):c.7447T>C (p.Cys2483Arg) rs1555394391
NM_000138.5(FBN1):c.7448G>A (p.Cys2483Tyr) rs1555394390
NM_000138.5(FBN1):c.7448G>C (p.Cys2483Ser) rs1555394390
NM_000138.5(FBN1):c.7453+1del rs2042970813
NM_000138.5(FBN1):c.7454-1G>C rs2141222615
NM_000138.5(FBN1):c.7454-1G>T rs2141222615
NM_000138.5(FBN1):c.7454-2A>G rs2042947959
NM_000138.5(FBN1):c.7455_7821del
NM_000138.5(FBN1):c.7466G>A (p.Cys2489Tyr) rs1060501077
NM_000138.5(FBN1):c.7472_7475del (p.Thr2491fs)
NM_000138.5(FBN1):c.7473_7480del (p.Lys2492fs) rs2042947612
NM_000138.5(FBN1):c.7477C>T (p.Gln2493Ter) rs2042947671
NM_000138.5(FBN1):c.7478_7488del (p.Gln2493fs)
NM_000138.5(FBN1):c.748_749insCC (p.Cys250fs) rs2043996054
NM_000138.5(FBN1):c.7498T>C (p.Cys2500Arg) rs363810
NM_000138.5(FBN1):c.7498_7504del (p.Cys2500fs) rs2141222500
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000138.5(FBN1):c.7502_7508dup (p.Thr2503_Ile2504insTer) rs2141222494
NM_000138.5(FBN1):c.7525T>A (p.Cys2509Ser) rs1060501055
NM_000138.5(FBN1):c.7526G>A (p.Cys2509Tyr)
NM_000138.5(FBN1):c.7527C>A (p.Cys2509Ter) rs2141222456
NM_000138.5(FBN1):c.7531T>C (p.Cys2511Arg) rs794728272
NM_000138.5(FBN1):c.7532G>A (p.Cys2511Tyr) rs1555394238
NM_000138.5(FBN1):c.7533T>G (p.Cys2511Trp) rs750331217
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg) rs363811
NM_000138.5(FBN1):c.7540G>T (p.Gly2514Ter)
NM_000138.5(FBN1):c.7545dup (p.Thr2516fs)
NM_000138.5(FBN1):c.7549C>T (p.Gln2517Ter) rs1566891808
NM_000138.5(FBN1):c.754dup (p.Ala252fs) rs2043995981
NM_000138.5(FBN1):c.7558_7568del (p.His2519_Thr2520insTer) rs2141222379
NM_000138.5(FBN1):c.7559del (p.Thr2520fs) rs1597513708
NM_000138.5(FBN1):c.755_762del (p.Ala252fs) rs2043995821
NM_000138.5(FBN1):c.7563_7570delinsGTTGGA (p.Cys2522fs) rs2042946001
NM_000138.5(FBN1):c.7570+5G>A rs1566891797
NM_000138.5(FBN1):c.7579G>C (p.Glu2527Gln) rs2141222003
NM_000138.5(FBN1):c.7582T>C (p.Cys2528Arg) rs1566891701
NM_000138.5(FBN1):c.7582T>G (p.Cys2528Gly)
NM_000138.5(FBN1):c.7583G>C (p.Cys2528Ser) rs2141221984
NM_000138.5(FBN1):c.7584C>A (p.Cys2528Ter) rs1303268147
NM_000138.5(FBN1):c.7604G>A (p.Cys2535Tyr) rs1555394210
NM_000138.5(FBN1):c.7605C>A (p.Cys2535Ter) rs113544411
NM_000138.5(FBN1):c.7605C>G (p.Cys2535Trp) rs113544411
NM_000138.5(FBN1):c.7606G>A (p.Gly2536Arg) rs397515854
NM_000138.5(FBN1):c.7610del (p.Ser2537fs) rs2141221934
NM_000138.5(FBN1):c.7617del (p.Ile2540fs) rs2141221916
NM_000138.5(FBN1):c.7621del (p.Cys2541fs) rs2042942749
NM_000138.5(FBN1):c.7624C>T (p.Gln2542Ter) rs794728276
NM_000138.5(FBN1):c.762del (p.Leu256fs) rs1064793559
NM_000138.5(FBN1):c.7630del (p.Thr2544fs)
NM_000138.5(FBN1):c.7636G>A (p.Gly2546Arg) rs2042942573
NM_000138.5(FBN1):c.7648T>A (p.Cys2550Ser) rs1566891675
NM_000138.5(FBN1):c.7649G>A (p.Cys2550Tyr) rs1555394196
NM_000138.5(FBN1):c.7650_7651insA (p.Glu2551fs) rs1060501042
NM_000138.5(FBN1):c.7655_7656del (p.Cys2552fs) rs1597513323
NM_000138.5(FBN1):c.7655_7656delinsAA (p.Cys2552Ter) rs1597513319
NM_000138.5(FBN1):c.7656C>A (p.Cys2552Ter) rs1555394195
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg) rs1566891655
NM_000138.5(FBN1):c.7664G>T (p.Gly2555Val) rs1566891654
NM_000138.5(FBN1):c.7666T>G (p.Phe2556Val) rs193922234
NM_000138.5(FBN1):c.7676_7677del (p.Asp2559fs) rs2141221768
NM_000138.5(FBN1):c.7678C>T (p.Gln2560Ter)
NM_000138.5(FBN1):c.7693T>C (p.Cys2565Arg)
NM_000138.5(FBN1):c.7693del (p.Cys2565fs) rs2141221743
NM_000138.5(FBN1):c.7694G>A (p.Cys2565Tyr) rs1566891645
NM_000138.5(FBN1):c.7696G>T (p.Glu2566Ter) rs2141221739
NM_000138.5(FBN1):c.7699+1G>A rs1555394189
NM_000138.5(FBN1):c.7699+2T>C
NM_000138.5(FBN1):c.769dup (p.Cys257fs)
NM_000138.5(FBN1):c.7700_7706del (p.Asp2567fs) rs2141220862
NM_000138.5(FBN1):c.7706del (p.Asp2569fs)
NM_000138.5(FBN1):c.7708G>A (p.Glu2570Lys) rs886038786
NM_000138.5(FBN1):c.7711T>C (p.Cys2571Arg) rs2042934926
NM_000138.5(FBN1):c.7712G>A (p.Cys2571Tyr) rs1555394153
NM_000138.5(FBN1):c.7714G>T (p.Glu2572Ter)
NM_000138.5(FBN1):c.7726C>T (p.Arg2576Cys) rs147195031
NM_000138.5(FBN1):c.7729dup (p.Cys2577fs) rs1555394151
NM_000138.5(FBN1):c.772C>T (p.Gln258Ter) rs146348130
NM_000138.5(FBN1):c.7741T>A (p.Cys2581Ser)
NM_000138.5(FBN1):c.7742G>C (p.Cys2581Ser) rs1555394149
NM_000138.5(FBN1):c.7760del (p.Gly2587fs) rs1597512677
NM_000138.5(FBN1):c.7769G>A (p.Cys2590Tyr) rs869025416
NM_000138.5(FBN1):c.7775G>A (p.Cys2592Tyr) rs112118237
NM_000138.5(FBN1):c.7775G>T (p.Cys2592Phe) rs112118237
NM_000138.5(FBN1):c.777_801del (p.Gly260fs) rs2043994986
NM_000138.5(FBN1):c.7780C>T (p.Gln2594Ter) rs1555394144
NM_000138.5(FBN1):c.7780del (p.Gln2594fs) rs1555394146
NM_000138.5(FBN1):c.7780dup (p.Gln2594fs) rs1555394146
NM_000138.5(FBN1):c.7784G>A (p.Gly2595Asp) rs397515857
NM_000138.5(FBN1):c.7785del (p.Tyr2596fs) rs1566891406
NM_000138.5(FBN1):c.7786_7792del (p.Tyr2596fs) rs2141220647
NM_000138.5(FBN1):c.7788C>A (p.Tyr2596Ter) rs1555394142
NM_000138.5(FBN1):c.7792C>T (p.Gln2598Ter) rs886038975
NM_000138.5(FBN1):c.7801C>T (p.Gln2601Ter) rs1597512600
NM_000138.5(FBN1):c.7805G>A (p.Trp2602Ter) rs2141220626
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter) rs193922236
NM_000138.5(FBN1):c.7808_7809del (p.Asn2603fs) rs2141220616
NM_000138.5(FBN1):c.7810C>T (p.Gln2604Ter) rs111496285
NM_000138.5(FBN1):c.7813dup (p.Cys2605fs) rs1555394138
NM_000138.5(FBN1):c.7819+1G>A rs112907302
NM_000138.5(FBN1):c.7820-1G>C rs1597509836
NM_000138.5(FBN1):c.7822G>T (p.Glu2608Ter) rs1566890005
NM_000138.5(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000138.5(FBN1):c.7832G>A (p.Cys2611Tyr) rs794728337
NM_000138.5(FBN1):c.7840del (p.Ala2614fs)
NM_000138.5(FBN1):c.7851C>A (p.Cys2617Ter) rs147019323
NM_000138.5(FBN1):c.7852G>T (p.Gly2618Ter) rs141133182
NM_000138.5(FBN1):c.7864T>C (p.Cys2622Arg) rs1555393882
NM_000138.5(FBN1):c.7864T>G (p.Cys2622Gly)
NM_000138.5(FBN1):c.7865G>C (p.Cys2622Ser) rs1555393880
NM_000138.5(FBN1):c.7865G>T (p.Cys2622Phe)
NM_000138.5(FBN1):c.7871A>G (p.Asn2624Ser) rs113935744
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg) rs193922239
NM_000138.5(FBN1):c.7881dup (p.Ser2628fs) rs1060501067
NM_000138.5(FBN1):c.7892G>A (p.Cys2631Tyr) rs111856492
NM_000138.5(FBN1):c.7892G>T (p.Cys2631Phe) rs111856492
NM_000138.5(FBN1):c.7907del (p.Gly2636fs) rs2141214897
NM_000138.5(FBN1):c.7912C>T (p.Gln2638Ter) rs2141214889
NM_000138.5(FBN1):c.7921C>T (p.Gln2641Ter) rs1555393866
NM_000138.5(FBN1):c.7936T>A (p.Cys2646Ser) rs1555393863
NM_000138.5(FBN1):c.7937G>A (p.Cys2646Tyr) rs1597509701
NM_000138.5(FBN1):c.7939C>T (p.Gln2647Ter) rs886038870
NM_000138.5(FBN1):c.7951G>T (p.Glu2651Ter) rs1555393859
NM_000138.5(FBN1):c.7954T>A (p.Cys2652Ser) rs1555393858
NM_000138.5(FBN1):c.7954T>C (p.Cys2652Arg) rs1555393858
NM_000138.5(FBN1):c.7955G>A (p.Cys2652Tyr) rs397515859
NM_000138.5(FBN1):c.7956T>A (p.Cys2652Ter) rs1555393856
NM_000138.5(FBN1):c.7959del (p.Ser2654fs) rs1597509674
NM_000138.5(FBN1):c.795del (p.Val266fs) rs2141353727
NM_000138.5(FBN1):c.7966C>T (p.Gln2656Ter) rs2141214772
NM_000138.5(FBN1):c.7974del (p.Cys2659fs) rs1555393848
NM_000138.5(FBN1):c.7974dup (p.Cys2659fs) rs1555393848
NM_000138.5(FBN1):c.7975T>G (p.Cys2659Gly) rs1555393847
NM_000138.5(FBN1):c.7977C>A (p.Cys2659Ter) rs1555393844
NM_000138.5(FBN1):c.7982A>G (p.Tyr2661Cys) rs112196241
NM_000138.5(FBN1):c.7983T>A (p.Tyr2661Ter) rs2141214712
NM_000138.5(FBN1):c.7987T>C (p.Cys2663Arg) rs1566889870
NM_000138.5(FBN1):c.7988G>A (p.Cys2663Tyr) rs1597509631
NM_000138.5(FBN1):c.7988G>C (p.Cys2663Ser) rs1597509631
NM_000138.5(FBN1):c.7988G>T (p.Cys2663Phe) rs1597509631
NM_000138.5(FBN1):c.7999G>T (p.Glu2667Ter) rs149062442
NM_000138.5(FBN1):c.799_805del (p.Gly267fs) rs1060501100
NM_000138.5(FBN1):c.7C>T (p.Arg3Ter) rs886038797
NM_000138.5(FBN1):c.8005G>T (p.Gly2669Cys) rs794728281
NM_000138.5(FBN1):c.8006G>T (p.Gly2669Val) rs886038869
NM_000138.5(FBN1):c.8008_8009insCACCCTCGGTAACCTGTGTGGTAATA (p.Tyr2670fs) rs2141214637
NM_000138.5(FBN1):c.8009del (p.Tyr2670fs) rs2141214634
NM_000138.5(FBN1):c.8011_8012del (p.Leu2671fs) rs2141214616
NM_000138.5(FBN1):c.8014T>C (p.Cys2672Arg) rs1555393833
NM_000138.5(FBN1):c.8016_8017insAG (p.Gly2673fs) rs2141214595
NM_000138.5(FBN1):c.801del (p.Ser268fs) rs1060501050
NM_000138.5(FBN1):c.8021G>A (p.Cys2674Tyr) rs1555393827
NM_000138.5(FBN1):c.8029_8030insACAGTAACCACCTG (p.Gly2677fs)
NM_000138.5(FBN1):c.8032dup (p.Tyr2678fs) rs2042895751
NM_000138.5(FBN1):c.8038C>T (p.Arg2680Cys) rs794728283
NM_000138.5(FBN1):c.8040dup (p.Ile2681fs)
NM_000138.5(FBN1):c.8047C>T (p.Gln2683Ter) rs2141214520
NM_000138.5(FBN1):c.8051+375G>T rs1060501062
NM_000138.5(FBN1):c.8051_8051+1delinsT rs1555393823
NM_000138.5(FBN1):c.8052-1G>A
NM_000138.5(FBN1):c.8056T>C (p.Cys2686Arg) rs1566889188
NM_000138.5(FBN1):c.8057G>T (p.Cys2686Phe) rs2141211820
NM_000138.5(FBN1):c.8058T>A (p.Cys2686Ter)
NM_000138.5(FBN1):c.8059_8060del (p.Val2687fs) rs2042873946
NM_000138.5(FBN1):c.8080C>T (p.Arg2694Ter) rs200309328
NM_000138.5(FBN1):c.8080del (p.Arg2694fs)
NM_000138.5(FBN1):c.8092G>T (p.Glu2698Ter) rs1597507783
NM_000138.5(FBN1):c.8101_8102del (p.Val2701fs) rs1597507763
NM_000138.5(FBN1):c.8103_8104insT (p.Ser2702Ter) rs2141211736
NM_000138.5(FBN1):c.8104_8105del (p.Ser2702fs)
NM_000138.5(FBN1):c.8108del (p.Gly2703fs)
NM_000138.5(FBN1):c.8118del (p.Asp2706fs) rs2141211729
NM_000138.5(FBN1):c.8140del (p.Ala2714fs)
NM_000138.5(FBN1):c.8145T>A (p.Cys2715Ter) rs1597507712
NM_000138.5(FBN1):c.8147dup (p.Tyr2716Ter) rs1555393657
NM_000138.5(FBN1):c.8148C>A (p.Tyr2716Ter)
NM_000138.5(FBN1):c.8148C>G (p.Tyr2716Ter) rs112642323
NM_000138.5(FBN1):c.8149G>T (p.Glu2717Ter) rs187553035
NM_000138.5(FBN1):c.814delinsTGGACACAATGCCCTGCTGGACACAAACTT (p.Lys272fs) rs1597591643
NM_000138.5(FBN1):c.8154dup (p.Lys2719Ter) rs794728321
NM_000138.5(FBN1):c.8173A>T (p.Lys2725Ter) rs1555393652
NM_000138.5(FBN1):c.819C>A (p.Cys273Ter)
NM_000138.5(FBN1):c.8219_8225dup (p.Asp2743fs)
NM_000138.5(FBN1):c.821C>A (p.Pro274His) rs1085307537
NM_000138.5(FBN1):c.8226+1G>A rs398122833
NM_000138.5(FBN1):c.8226+1G>T rs398122833
NM_000138.5(FBN1):c.8226+5G>A rs193922243
NM_000138.5(FBN1):c.8235dup (p.Glu2746Ter) rs2141210158
NM_000138.5(FBN1):c.8240_8241del (p.Thr2747fs)
NM_000138.5(FBN1):c.8242G>T (p.Glu2748Ter)
NM_000138.5(FBN1):c.8259del (p.Ala2754fs) rs1597506905
NM_000138.5(FBN1):c.8260del (p.Ala2754fs)
NM_000138.5(FBN1):c.8265_8266delinsAGGA (p.Ser2755fs) rs727504651
NM_000138.5(FBN1):c.8267G>A (p.Trp2756Ter) rs397515861
NM_000138.5(FBN1):c.8268G>A (p.Trp2756Ter) rs267606796
NM_000138.5(FBN1):c.8282del (p.Thr2761fs)
NM_000138.5(FBN1):c.8297del (p.Phe2766fs)
NM_000138.5(FBN1):c.8312_8327dup (p.Arg2776_Ile2777insGlnTer) rs2141210000
NM_000138.5(FBN1):c.831del (p.His277fs) rs2043994405
NM_000138.5(FBN1):c.8323del (p.Val2775fs) rs2141210009
NM_000138.5(FBN1):c.8330T>A (p.Ile2777Asn) rs1555393556
NM_000138.5(FBN1):c.8338dup (p.Leu2780fs) rs2042860621
NM_000138.5(FBN1):c.8348C>A (p.Ala2783Asp) rs2141209965
NM_000138.5(FBN1):c.8374del (p.Arg2792fs)
NM_000138.5(FBN1):c.8378A>G (p.Tyr2793Cys) rs397515863
NM_000138.5(FBN1):c.8398dup (p.Glu2800fs) rs2141209879
NM_000138.5(FBN1):c.8405dup (p.Phe2803fs) rs1555393539
NM_000138.5(FBN1):c.8416dup (p.Ile2806fs) rs1555393538
NM_000138.5(FBN1):c.841_842insT (p.Glu281fs) rs886039034
NM_000138.5(FBN1):c.8442C>A (p.Tyr2814Ter)
NM_000138.5(FBN1):c.8456dup (p.Lys2820fs) rs2141209783
NM_000138.5(FBN1):c.8477_8478insATAG (p.Thr2826_Tyr2827insTer) rs2042858025
NM_000138.5(FBN1):c.8478del (p.Tyr2827fs)
NM_000138.5(FBN1):c.8483C>A (p.Ser2828Ter)
NM_000138.5(FBN1):c.8488C>T (p.Gln2830Ter) rs886038795
NM_000138.5(FBN1):c.8491del (p.Ile2831fs)
NM_000138.5(FBN1):c.8499del (p.Ser2833fs) rs2141209667
NM_000138.5(FBN1):c.8512A>T (p.Lys2838Ter) rs1597506641
NM_000138.5(FBN1):c.8512_8526A[5]GAAAGAACTTGGAGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAGAAAGAACTT[1] (p.Asn2843delinsGlyGlyGlyAlaLysMetAlaGluTer)
NM_000138.5(FBN1):c.8516dup (p.Lys2840fs) rs1555393514
NM_000138.5(FBN1):c.8521G>T (p.Glu2841Ter) rs587782948
NM_000138.5(FBN1):c.8525_8529del (p.Leu2842fs) rs1064794130
NM_000138.5(FBN1):c.8536G>T (p.Glu2846Ter) rs1555393508
NM_000138.5(FBN1):c.8543_8544del (p.Lys2848fs) rs794728323
NM_000138.5(FBN1):c.8544del (p.Lys2848fs) rs794728323
NM_000138.5(FBN1):c.8546_8547del (p.Lys2848_Tyr2849insTer)
NM_000138.5(FBN1):c.8547T>A (p.Tyr2849Ter)
NM_000138.5(FBN1):c.8554_8561delinsTATCAC (p.Asp2852fs) rs2141209520
NM_000138.5(FBN1):c.855del (p.Lys285fs) rs2141353573
NM_000138.5(FBN1):c.8576del (p.Gly2859fs) rs2141209492
NM_000138.5(FBN1):c.8591T>A (p.Met2864Lys) rs1060501028
NM_000138.5(FBN1):c.859G>T (p.Glu287Ter) rs1597591602
NM_000138.5(FBN1):c.871G>T (p.Glu291Ter) rs1232880706
NM_000138.5(FBN1):c.878del (p.Ser293fs)
NM_000138.5(FBN1):c.88G>T (p.Glu30Ter)
NM_000138.5(FBN1):c.897_898del (p.Cys299_Glu300delinsTer) rs2141343447
NM_000138.5(FBN1):c.905del (p.Gly302fs) rs2043913021
NM_000138.5(FBN1):c.916_919del (p.Asn306fs) rs1597587532
NM_000138.5(FBN1):c.917del (p.Asn306fs) rs1064793637
NM_000138.5(FBN1):c.920_921del (p.Thr307fs)
NM_000138.5(FBN1):c.923_926del (p.Val308fs)
NM_000138.5(FBN1):c.925del (p.Ser309fs) rs2141343395
NM_000138.5(FBN1):c.933C>G (p.Tyr311Ter) rs2141343382
NM_000138.5(FBN1):c.937T>C (p.Cys313Arg) rs2141343372
NM_000138.5(FBN1):c.945del (p.Pro317fs) rs2141343351
NM_000138.5(FBN1):c.953del (p.Gly318fs)
NM_000138.5(FBN1):c.958dup (p.Tyr320fs) rs397515867
NM_000138.5(FBN1):c.960C>A (p.Tyr320Ter) rs1555401004
NM_000138.5(FBN1):c.961_962del (p.Thr321fs) rs1555401002
NM_000138.5(FBN1):c.963del (p.Ser322fs)
NM_000138.5(FBN1):c.969delinsCC (p.Asp324fs)
NM_000138.5(FBN1):c.974_983del (p.Gly325fs) rs1566919599
NM_000138.5(FBN1):c.978del (p.Arg327fs) rs1060501094
NM_000138.5(FBN1):c.989-1G>C rs1555400616
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.-32-2A>G rs1445232530
NM_000152.5(GAA):c.-32-385_143del
NM_000152.5(GAA):c.-32-3C>A rs1055945806
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser) rs886042960
NM_000152.5(GAA):c.1001G>A (p.Gly334Asp) rs2039143109
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg) rs202095215
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) rs730880022
NM_000152.5(GAA):c.1030_1031del (p.Gly344fs) rs1567829962
NM_000152.5(GAA):c.1051del (p.Val351fs) rs786204507
NM_000152.5(GAA):c.1054C>T (p.Gln352Ter)
NM_000152.5(GAA):c.1057del (p.Gln353fs) rs2143853690
NM_000152.5(GAA):c.1062C>A (p.Tyr354Ter) rs1064796703
NM_000152.5(GAA):c.1075G>A (p.Gly359Arg)
NM_000152.5(GAA):c.1075G>T (p.Gly359Ter) rs1064794288
NM_000152.5(GAA):c.1076-1G>A rs1555600050
NM_000152.5(GAA):c.1076-2A>G rs1057516290
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg) rs755253527
NM_000152.5(GAA):c.1082dup (p.Phe362fs) rs2143854537
NM_000152.5(GAA):c.1091del (p.Pro364fs) rs2143854659
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg) rs1555600061
NM_000152.5(GAA):c.1100G>A (p.Trp367Ter) rs1478500490
NM_000152.5(GAA):c.1105dup (p.Leu369fs)
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro) rs2039149745
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
NM_000152.5(GAA):c.1124G>T (p.Arg375Leu) rs142752477
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1134C>A (p.Tyr378Ter) rs1567830317
NM_000152.5(GAA):c.1134C>G (p.Tyr378Ter) rs1567830317
NM_000152.5(GAA):c.1143del (p.Ala382fs) rs757458607
NM_000152.5(GAA):c.1153del (p.Arg385fs) rs1555600102
NM_000152.5(GAA):c.1156C>T (p.Gln386Ter) rs786204517
NM_000152.5(GAA):c.1165del (p.Glu389fs) rs1555600111
NM_000152.5(GAA):c.1192del (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1192dup (p.Leu398fs) rs1057516546
NM_000152.5(GAA):c.1193T>C (p.Leu398Pro) rs1598577666
NM_000152.5(GAA):c.1193del (p.Leu398fs) rs1057517286
NM_000152.5(GAA):c.1195-19_2190-17del
NM_000152.5(GAA):c.1198del (p.Val400fs)
NM_000152.5(GAA):c.1214T>C (p.Leu405Pro) rs2143857207
NM_000152.5(GAA):c.1219T>C (p.Tyr407His) rs727503939
NM_000152.5(GAA):c.1225dup (p.Asp409fs) rs2039157751
NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs) rs1598578030
NM_000152.5(GAA):c.1241del (p.Phe414fs)
NM_000152.5(GAA):c.1274del (p.Pro425fs)
NM_000152.5(GAA):c.1285C>T (p.Gln429Ter)
NM_000152.5(GAA):c.1293_1312del (p.Gln433fs)
NM_000152.5(GAA):c.1298_1301delinsTCCTGCACCATGGC (p.Gln433fs) rs2143858151
NM_000152.5(GAA):c.1308del (p.Arg437fs) rs2143858305
NM_000152.5(GAA):c.1314C>A (p.Tyr438Ter)
NM_000152.5(GAA):c.1336dup (p.Ile446fs) rs2143865725
NM_000152.5(GAA):c.1347_1365dup (p.Arg456fs) rs2039190879
NM_000152.5(GAA):c.1356_1365del (p.Ser454fs)
NM_000152.5(GAA):c.1356del (p.Ser454fs) rs2039191420
NM_000152.5(GAA):c.1364A>G (p.Tyr455Cys)
NM_000152.5(GAA):c.1365del (p.Ser454_Tyr455insTer)
NM_000152.5(GAA):c.1370C>G (p.Pro457Arg)
NM_000152.5(GAA):c.1374_1375delinsTA (p.Asp459Asn) rs2143866239
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1375G>C (p.Asp459His) rs535644999
NM_000152.5(GAA):c.1376_1377del (p.Asp459fs) rs2143866321
NM_000152.5(GAA):c.1377dup (p.Glu460fs) rs2039192386
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro) rs2039192921
NM_000152.5(GAA):c.1396del (p.Val466fs) rs1273392818
NM_000152.5(GAA):c.1396dup (p.Val466fs)
NM_000152.5(GAA):c.1408_1410del (p.Asn470del) rs748893499
NM_000152.5(GAA):c.1417_1420del (p.Gly473fs)
NM_000152.5(GAA):c.1426_1429delinsGTTGG (p.Leu476fs) rs2039195145
NM_000152.5(GAA):c.1431del (p.Ile477fs) rs1598580364
NM_000152.5(GAA):c.1432G>A (p.Gly478Arg) rs778068209
NM_000152.5(GAA):c.1437+1G>A rs1555600575
NM_000152.5(GAA):c.1437+2T>C rs1598580407
NM_000152.5(GAA):c.1437G>A (p.Lys479=) rs796051877
NM_000152.5(GAA):c.1438-1G>C rs147804176
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1438-2A>G rs1555600730
NM_000152.5(GAA):c.1441T>A (p.Trp481Arg)
NM_000152.5(GAA):c.1443G>A (p.Trp481Ter) rs2143871845
NM_000152.5(GAA):c.1445C>G (p.Pro482Arg) rs2039212985
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.1464dup (p.Asp489fs) rs2039213824
NM_000152.5(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.5(GAA):c.148G>T (p.Glu50Ter) rs1555598609
NM_000152.5(GAA):c.148_859-11del
NM_000152.5(GAA):c.1496G>A (p.Trp499Ter) rs766680292
NM_000152.5(GAA):c.1519dup (p.His507fs) rs2039216097
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly) rs1598581682
NM_000152.5(GAA):c.1551+1G>A rs770780848
NM_000152.5(GAA):c.1551+1G>C rs770780848
NM_000152.5(GAA):c.1552-2A>G rs1555600846
NM_000152.5(GAA):c.1555A>G (p.Met519Val) rs1598581919
NM_000152.5(GAA):c.1557G>A (p.Met519Ile) rs1447365901
NM_000152.5(GAA):c.1557_1561dup (p.Glu521fs) rs2143874124
NM_000152.5(GAA):c.1559del (p.Asn520fs) rs2143874154
NM_000152.5(GAA):c.1560del (p.Asn520fs)
NM_000152.5(GAA):c.1561G>C (p.Glu521Gln)
NM_000152.5(GAA):c.1561del (p.Glu521fs)
NM_000152.5(GAA):c.1562A>T (p.Glu521Val) rs1455277014
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr) rs892129065
NM_000152.5(GAA):c.1564C>G (p.Pro522Ala) rs892129065
NM_000152.5(GAA):c.156_157del (p.His53fs)
NM_000152.5(GAA):c.1575dup (p.Ile526fs) rs2143874398
NM_000152.5(GAA):c.1579_1580del (p.Arg527fs) rs1291214871
NM_000152.5(GAA):c.1579del (p.Arg527fs) rs2039222879
NM_000152.5(GAA):c.1585T>C (p.Ser529Pro) rs1598582021
NM_000152.5(GAA):c.1587del (p.Glu530fs)
NM_000152.5(GAA):c.1589del (p.Glu530fs)
NM_000152.5(GAA):c.1636+460_2672del
NM_000152.5(GAA):c.1637-2A>G rs2143882034
NM_000152.5(GAA):c.1645G>A (p.Gly549Arg)
NM_000152.5(GAA):c.1650del (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1650dup (p.Thr551fs) rs766398206
NM_000152.5(GAA):c.1651_1656del (p.Thr551_Leu552del)
NM_000152.5(GAA):c.1654del (p.Leu552fs) rs2039246615
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) rs1221156663
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe) rs747150965
NM_000152.5(GAA):c.1674_1675del (p.Ala559fs) rs2143882664
NM_000152.5(GAA):c.1687C>T (p.Gln563Ter) rs1057516426
NM_000152.5(GAA):c.1692del (p.Leu565fs) rs1555601234
NM_000152.5(GAA):c.1694_1697del (p.Leu565fs)
NM_000152.5(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.5(GAA):c.1703A>T (p.His568Leu) rs2143882997
NM_000152.5(GAA):c.1704dup (p.Tyr569fs) rs2143883054
NM_000152.5(GAA):c.1705dup (p.Tyr569fs) rs2143883097
NM_000152.5(GAA):c.1716C>G (p.His572Gln) rs772962666
NM_000152.5(GAA):c.1725C>A (p.Tyr575Ter) rs112517802
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe) rs2143883845
NM_000152.5(GAA):c.1754+2T>A
NM_000152.5(GAA):c.1754+2T>C
NM_000152.5(GAA):c.1755-1G>A rs2039261208
NM_000152.5(GAA):c.1761_1765delinsT (p.Val588fs) rs2039261436
NM_000152.5(GAA):c.1781G>A (p.Arg594His) rs775450536
NM_000152.5(GAA):c.1802C>A (p.Ser601Ter) rs374470794
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp) rs374470794
NM_000152.5(GAA):c.1809del (p.Phe603fs) rs2143888280
NM_000152.5(GAA):c.1824_1828dup (p.Ala610fs) rs1057516826
NM_000152.5(GAA):c.1827C>A (p.Tyr609Ter)
NM_000152.5(GAA):c.1827C>G (p.Tyr609Ter)
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1844G>A (p.Gly615Glu) rs1243515778
NM_000152.5(GAA):c.1844G>T (p.Gly615Val) rs1243515778
NM_000152.5(GAA):c.1846G>A (p.Asp616Asn) rs796161389
NM_000152.5(GAA):c.1846dup (p.Asp616fs) rs1249187013
NM_000152.5(GAA):c.1847dup (p.Asp616fs) rs1475559733
NM_000152.5(GAA):c.1848dup (p.Val617fs)
NM_000152.5(GAA):c.1853G>A (p.Trp618Ter)
NM_000152.5(GAA):c.1855A>C (p.Ser619Arg)
NM_000152.5(GAA):c.1857C>G (p.Ser619Arg) rs914396317
NM_000152.5(GAA):c.1861T>C (p.Trp621Arg) rs1327361418
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe) rs1024137874
NM_000152.5(GAA):c.1888+1G>A rs776325453
NM_000152.5(GAA):c.1895T>G (p.Leu632Arg) rs1598585402
NM_000152.5(GAA):c.1905C>A (p.Asn635Lys) rs1414146587
NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del) rs2039275157
NM_000152.5(GAA):c.1913G>T (p.Gly638Val) rs1294428728
NM_000152.5(GAA):c.1930_1936dup (p.Val646fs) rs748829376
NM_000152.5(GAA):c.1933G>A (p.Asp645Asn) rs368438393
NM_000152.5(GAA):c.1933G>C (p.Asp645His) rs368438393
NM_000152.5(GAA):c.1933G>T (p.Asp645Tyr) rs368438393
NM_000152.5(GAA):c.1937del (p.Val646fs)
NM_000152.5(GAA):c.1941C>A (p.Cys647Ter) rs776948121
NM_000152.5(GAA):c.1950_1952delinsT (p.Gly651fs)
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs) rs1567835781
NM_000152.5(GAA):c.1952del (p.Gly651fs) rs1567835775
NM_000152.5(GAA):c.1975_2000dup (p.Phe667fs)
NM_000152.5(GAA):c.1976_1977del (p.Val659fs) rs2143892473
NM_000152.5(GAA):c.1978C>T (p.Arg660Cys) rs759518659
NM_000152.5(GAA):c.1987C>T (p.Gln663Ter) rs2143892654
NM_000152.5(GAA):c.1987del (p.Gln663fs) rs2143892615
NM_000152.5(GAA):c.199del (p.Asp67fs) rs2143825870
NM_000152.5(GAA):c.1A>G (p.Met1Val) rs786204467
NM_000152.5(GAA):c.1A>T (p.Met1Leu) rs786204467
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys) rs1555601633
NM_000152.5(GAA):c.2004C>A (p.Tyr668Ter)
NM_000152.5(GAA):c.2015G>T (p.Arg672Leu)
NM_000152.5(GAA):c.2021ACA[1] (p.Asn675del) rs786204621
NM_000152.5(GAA):c.2040+1G>C rs1057516928
NM_000152.5(GAA):c.2040+2T>G
NM_000152.5(GAA):c.2041-1G>A rs760731229
NM_000152.5(GAA):c.2066_2069del (p.Glu689fs)
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs) rs398123171
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter) rs2039287628
NM_000152.5(GAA):c.2078dup (p.Ala694fs) rs730880372
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer) rs2039287852
NM_000152.5(GAA):c.2092_2099del (p.Ala698fs)
NM_000152.5(GAA):c.2095dup (p.Leu699fs) rs2143895928
NM_000152.5(GAA):c.2096T>C (p.Leu699Pro)
NM_000152.5(GAA):c.2105G>T (p.Arg702Leu) rs398123172
NM_000152.5(GAA):c.2109C>A (p.Tyr703Ter) rs150728610
NM_000152.5(GAA):c.2109C>G (p.Tyr703Ter)
NM_000152.5(GAA):c.2122del (p.His708fs)
NM_000152.5(GAA):c.2136_2137del (p.Phe713fs) rs1555601780
NM_000152.5(GAA):c.2140del (p.His714fs) rs786204549
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter) rs1275298143
NM_000152.5(GAA):c.2161G>T (p.Glu721Ter) rs140376273
NM_000152.5(GAA):c.2161del (p.Glu721fs) rs1555601802
NM_000152.5(GAA):c.2167G>A (p.Val723Met) rs767247397
NM_000152.5(GAA):c.2167_2179delinsTGCGACGTGG (p.Val723_Leu727delinsCysAspValVal) rs2039292050
NM_000152.5(GAA):c.2173del (p.Arg725fs) rs2039292320
NM_000152.5(GAA):c.2185del (p.Leu729fs) rs1057516581
NM_000152.5(GAA):c.2188G>T (p.Glu730Ter) rs1555601828
NM_000152.5(GAA):c.2213G>A (p.Trp738Ter) rs1057516327
NM_000152.5(GAA):c.2214G>A (p.Trp738Ter) rs1057516328
NM_000152.5(GAA):c.2219_2220del (p.Val740fs) rs2039364779
NM_000152.5(GAA):c.2227C>T (p.Gln743Ter) rs1057516277
NM_000152.5(GAA):c.2228A>G (p.Gln743Arg) rs1567838823
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg) rs1479740763
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2237G>C (p.Trp746Ser) rs752921215
NM_000152.5(GAA):c.2238G>A (p.Trp746Ter) rs1800312
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2238G>T (p.Trp746Cys)
NM_000152.5(GAA):c.2242G>T (p.Glu748Ter) rs1057516363
NM_000152.5(GAA):c.2242del (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2242dup (p.Glu748fs) rs777275355
NM_000152.5(GAA):c.2261dup (p.Val755fs) rs1555602648
NM_000152.5(GAA):c.2269C>T (p.Gln757Ter) rs200483245
NM_000152.5(GAA):c.2281delinsAT (p.Ala761fs) rs1057516924
NM_000152.5(GAA):c.2284G>T (p.Glu762Ter) rs760063214
NM_000152.5(GAA):c.2297A>C (p.Tyr766Ser) rs144016984
NM_000152.5(GAA):c.2300del (p.Phe767fs) rs1555602692
NM_000152.5(GAA):c.2313_2322del (p.Trp772fs) rs2143920189
NM_000152.5(GAA):c.2314del (p.Trp772fs)
NM_000152.5(GAA):c.2320dup (p.Asp774fs)
NM_000152.5(GAA):c.2331+1G>A
NM_000152.5(GAA):c.2367dup (p.Pro790fs) rs1555602860
NM_000152.5(GAA):c.236_246del (p.Pro79fs) rs1057517165
NM_000152.5(GAA):c.2380del (p.Arg794fs) rs2143924649
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2385del (p.Glu795fs) rs2143924790
NM_000152.5(GAA):c.2399G>T (p.Ser800Ile)
NM_000152.5(GAA):c.2408_2426del (p.Gln803fs) rs763048948
NM_000152.5(GAA):c.241C>T (p.Gln81Ter) rs1555598687
NM_000152.5(GAA):c.242del (p.Gln81fs)
NM_000152.5(GAA):c.2431dup (p.Leu811fs) rs2143925402
NM_000152.5(GAA):c.2432del (p.Leu811fs) rs766560578
NM_000152.5(GAA):c.2434G>A (p.Asp812Asn) rs1433117170
NM_000152.5(GAA):c.246C>A (p.Cys82Ter) rs749584846
NM_000152.5(GAA):c.2470_2471del (p.Ile824fs) rs2143926009
NM_000152.5(GAA):c.2481+110_2646+39del rs1598592604
NM_000152.5(GAA):c.2483_2646+1del rs1555603048
NM_000152.5(GAA):c.2495_2496del (p.Thr832fs) rs1057516704
NM_000152.5(GAA):c.2501_2502del (p.Thr834fs) rs886043343
NM_000152.5(GAA):c.2502dup (p.Glu835fs)
NM_000152.5(GAA):c.2544del (p.Lys849fs) rs398123173
NM_000152.5(GAA):c.2554G>T (p.Glu852Ter)
NM_000152.5(GAA):c.2577G>A (p.Trp859Ter)
NM_000152.5(GAA):c.258del (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.258dup (p.Asn87fs) rs761317813
NM_000152.5(GAA):c.2619C>G (p.Tyr873Ter)
NM_000152.5(GAA):c.2623C>T (p.Gln875Ter) rs2143930800
NM_000152.5(GAA):c.2646+1G>A rs2143931061
NM_000152.5(GAA):c.2646+2T>A rs786204561
NM_000152.5(GAA):c.2646+2T>G
NM_000152.5(GAA):c.2655_2656del (p.Val886fs) rs1555603219
NM_000152.5(GAA):c.2675_2676dup (p.Thr893Ter)
NM_000152.5(GAA):c.2702T>A (p.Leu901Gln)
NM_000152.5(GAA):c.2702dup (p.Gln902fs)
NM_000152.5(GAA):c.2704C>T (p.Gln902Ter) rs1057516341
NM_000152.5(GAA):c.2704_2716dup (p.Val906fs) rs1057516189
NM_000152.5(GAA):c.2707_2709del (p.Lys903del) rs121907939
NM_000152.5(GAA):c.2734del (p.Ala912fs)
NM_000152.5(GAA):c.2740C>T (p.Gln914Ter) rs1555603264
NM_000152.5(GAA):c.2740dup (p.Gln914fs) rs745427943
NM_000152.5(GAA):c.2741delinsCAG (p.Gln914fs)
NM_000152.5(GAA):c.2743C>T (p.Gln915Ter)
NM_000152.5(GAA):c.276C>A (p.Cys92Ter) rs1232001857
NM_000152.5(GAA):c.2815_2816del (p.Val939fs) rs763359208
NM_000152.5(GAA):c.282del (p.Asp95fs) rs2143826963
NM_000152.5(GAA):c.2834_2835del (p.Glu945fs)
NM_000152.5(GAA):c.2T>C (p.Met1Thr) rs2039024047
NM_000152.5(GAA):c.304C>T (p.Gln102Ter) rs1432841878
NM_000152.5(GAA):c.309C>A (p.Cys103Ter) rs373307393
NM_000152.5(GAA):c.309C>G (p.Cys103Trp) rs373307393
NM_000152.5(GAA):c.322T>A (p.Cys108Ser) rs2039038743
NM_000152.5(GAA):c.340_341insT (p.Lys114fs) rs2143827701
NM_000152.5(GAA):c.342del (p.Lys114fs) rs1555598796
NM_000152.5(GAA):c.343C>T (p.Gln115Ter) rs786204614
NM_000152.5(GAA):c.352C>T (p.Gln118Ter) rs1555598800
NM_000152.5(GAA):c.355G>T (p.Gly119Ter) rs1555598802
NM_000152.5(GAA):c.361C>T (p.Gln121Ter) rs750668627
NM_000152.5(GAA):c.377G>A (p.Trp126Ter) rs1011631903
NM_000152.5(GAA):c.378G>A (p.Trp126Ter) rs2039041225
NM_000152.5(GAA):c.379_380del (p.Cys127fs) rs1207988953
NM_000152.5(GAA):c.399C>A (p.Tyr133Ter) rs2039042313
NM_000152.5(GAA):c.3G>A (p.Met1Ile) rs1187796945
NM_000152.5(GAA):c.40_47del (p.Ala14fs)
NM_000152.5(GAA):c.424_440del (p.Ser142fs)
NM_000152.5(GAA):c.437del (p.Met146fs) rs1555598869
NM_000152.5(GAA):c.444C>G (p.Tyr148Ter) rs886043112
NM_000152.5(GAA):c.456_457dup (p.Thr153fs) rs2143829023
NM_000152.5(GAA):c.471del (p.Thr158fs) rs1057517320
NM_000152.5(GAA):c.482_483del (p.Pro161fs) rs764750389
NM_000152.5(GAA):c.520_526del (p.Glu174fs)
NM_000152.5(GAA):c.525_526del (p.Asn177fs) rs767882689
NM_000152.5(GAA):c.528_529del (p.Asn177fs) rs2143829649
NM_000152.5(GAA):c.546+2_546+5del rs1181354869
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.546G>C (p.Thr182=) rs143523371
NM_000152.5(GAA):c.546G>T (p.Thr182=) rs143523371
NM_000152.5(GAA):c.547-1G>C rs2143833579
NM_000152.5(GAA):c.569G>A (p.Arg190His) rs528367092
NM_000152.5(GAA):c.573C>A (p.Tyr191Ter) rs376229714
NM_000152.5(GAA):c.584T>A (p.Leu195Ter)
NM_000152.5(GAA):c.587del (p.Glu196fs)
NM_000152.5(GAA):c.639del (p.Ser214fs) rs2143834462
NM_000152.5(GAA):c.643G>T (p.Glu215Ter) rs201286896
NM_000152.5(GAA):c.658dup (p.Val220fs) rs2143834640
NM_000152.5(GAA):c.683dup (p.Arg229fs) rs2143834983
NM_000152.5(GAA):c.692+1G>A rs773281453
NM_000152.5(GAA):c.692+1G>C rs773281453
NM_000152.5(GAA):c.692+1G>T
NM_000152.5(GAA):c.692+2T>C rs1555599171
NM_000152.5(GAA):c.711_712dup (p.Pro238fs) rs1555599586
NM_000152.5(GAA):c.716del (p.Leu239fs) rs1555599594
NM_000152.5(GAA):c.722_723del (p.Phe241fs) rs2039116471
NM_000152.5(GAA):c.727_728insCCACCAGGACA (p.Asp243fs)
NM_000152.5(GAA):c.736del (p.Leu246fs) rs886043920
NM_000152.5(GAA):c.739C>T (p.Gln247Ter)
NM_000152.5(GAA):c.755dup (p.Pro253fs) rs1555599619
NM_000152.5(GAA):c.759del (p.Ser254fs) rs2039117815
NM_000152.5(GAA):c.763C>T (p.Gln255Ter) rs2039118159
NM_000152.5(GAA):c.766_785delinsC (p.Tyr256fs) rs786204532
NM_000152.5(GAA):c.768dup (p.Ile257fs) rs1555599644
NM_000152.5(GAA):c.796C>T (p.Pro266Ser) rs1555599667
NM_000152.5(GAA):c.799_803delinsA (p.Leu267fs) rs2039120342
NM_000152.5(GAA):c.806_830del (p.Leu269fs) rs1598575231
NM_000152.5(GAA):c.854C>G (p.Pro285Arg) rs764622267
NM_000152.5(GAA):c.856del (p.Thr286fs)
NM_000152.5(GAA):c.859-2A>G rs2143848897
NM_000152.5(GAA):c.872T>C (p.Leu291Pro) rs2143849151
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter) rs763216519
NM_000152.5(GAA):c.889_890insG (p.Phe297fs)
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) rs121907940
NM_000152.5(GAA):c.896T>G (p.Leu299Arg) rs121907940
NM_000152.5(GAA):c.923A>C (p.His308Pro) rs2143849751
NM_000152.5(GAA):c.930del (p.Phe311fs)
NM_000152.5(GAA):c.934del (p.Leu312fs) rs886042358
NM_000152.5(GAA):c.955+1G>A rs1403691329
NM_000152.5(GAA):c.967C>T (p.Gln323Ter)
NM_000152.5(GAA):c.988_998del (p.Trp330fs)
NM_000152.5(GAA):c.989G>A (p.Trp330Ter) rs1555599960
NM_000152.5(GAA):c.[2228A>G;2237G>C]
NM_000152.5(GAA):c.[752C>T;761C>T]
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.1192C>T (p.Arg398Ter) rs121908309
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.1249T>G (p.Trp417Gly) rs1450426641
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.1599G>A (p.Trp533Ter) rs1671655923
NM_000157.4(GBA1):c.160G>T (p.Val54Leu) rs121908302
NM_000157.4(GBA1):c.203dup (p.Thr69fs) rs1170895261
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu) rs77829017
NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn) rs121908312
NM_000157.4(GBA1):c.403_404del (p.Leu135fs) rs1671970302
NM_000157.4(GBA1):c.481C>T (p.Pro161Ser) rs121908299
NM_000157.4(GBA1):c.508C>T (p.Arg170Cys) rs398123530
NM_000157.4(GBA1):c.526G>A (p.Asp176Asn) rs1553217946
NM_000157.4(GBA1):c.557del (p.Phe186fs) rs1671890998
NM_000157.4(GBA1):c.586A>C (p.Lys196Gln) rs121908297
NM_000157.4(GBA1):c.653G>A (p.Trp218Ter) rs867929413
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr) rs866075757
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.914del (p.Pro305fs) rs1366567865
NM_000157.4(GBA1):c.970C>T (p.Arg324Cys) rs765633380
NM_000157.4(GBA1):c.983C>T (p.Pro328Leu) rs121908298
NM_000157.4(GBA1):c.999+242C>A rs1571969643
NM_000165.5(GJA1):c.119C>T (p.Ala40Val) rs1554200992
NM_000169.3(GLA):c.486G>A (p.Trp162Ter) rs869312311
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000180.3(GUCY2D):c.389del (p.Pro130Leufs) rs61749670
NM_000180.4(GUCY2D):c.2766C>G (p.Tyr922Ter) rs1006935198
NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala) rs1567961904
NM_000182.5(HADHA):c.1002del (p.Glu335fs)
NM_000182.5(HADHA):c.1029C>A (p.Tyr343Ter)
NM_000182.5(HADHA):c.1059del (p.Lys353fs) rs1227493628
NM_000182.5(HADHA):c.1070del (p.Pro357fs) rs1670051013
NM_000182.5(HADHA):c.1086-3_1092del rs1057516460
NM_000182.5(HADHA):c.1167dup (p.Lys390Ter) rs2147762308
NM_000182.5(HADHA):c.1183dup (p.Thr395fs)
NM_000182.5(HADHA):c.1204C>T (p.Gln402Ter) rs2147762267
NM_000182.5(HADHA):c.1209del (p.Val404fs)
NM_000182.5(HADHA):c.1231_1235del (p.Lys411fs)
NM_000182.5(HADHA):c.1249del (p.Ala416_Leu417insTer)
NM_000182.5(HADHA):c.1261G>T (p.Glu421Ter)
NM_000182.5(HADHA):c.129dup (p.Gly44fs) rs1298883200
NM_000182.5(HADHA):c.1319dup (p.Ala441fs) rs2147759662
NM_000182.5(HADHA):c.1336G>T (p.Glu446Ter)
NM_000182.5(HADHA):c.1361_1364dup (p.Lys455delinsAsnTer)
NM_000182.5(HADHA):c.1432del (p.Ala478fs)
NM_000182.5(HADHA):c.1491_1495dup (p.Tyr499fs) rs2147753741
NM_000182.5(HADHA):c.1523del (p.Leu508fs) rs754145990
NM_000182.5(HADHA):c.1528G>T (p.Glu510Ter) rs137852769
NM_000182.5(HADHA):c.1533dup (p.Ile512fs)
NM_000182.5(HADHA):c.1540del (p.Thr514fs) rs1478391725
NM_000182.5(HADHA):c.1549del (p.Thr517fs)
NM_000182.5(HADHA):c.1554del (p.Asp520fs) rs2147753630
NM_000182.5(HADHA):c.156_157del (p.Arg53fs)
NM_000182.5(HADHA):c.157C>T (p.Arg53Ter) rs147103714
NM_000182.5(HADHA):c.1590del (p.Lys531fs) rs1057516991
NM_000182.5(HADHA):c.160del (p.Ile54fs)
NM_000182.5(HADHA):c.1620+1del rs2147753555
NM_000182.5(HADHA):c.1620+2_1620+6del rs764557236
NM_000182.5(HADHA):c.1644del (p.Arg549fs) rs1267615713
NM_000182.5(HADHA):c.1654dup (p.Ala552fs) rs2147753069
NM_000182.5(HADHA):c.1689+2T>C
NM_000182.5(HADHA):c.1689+2T>G rs1574602991
NM_000182.5(HADHA):c.1690-17_1690-2del rs1669581856
NM_000182.5(HADHA):c.1720_1721del (p.Leu574fs) rs1278248464
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
NM_000182.5(HADHA):c.180+1G>A rs786205088
NM_000182.5(HADHA):c.180_180+5delinsAT rs1553316142
NM_000182.5(HADHA):c.1811del (p.Gly604fs) rs747985669
NM_000182.5(HADHA):c.1844dup (p.Asn615fs)
NM_000182.5(HADHA):c.1893del (p.Lys631fs)
NM_000182.5(HADHA):c.1915_1918del (p.Tyr639fs) rs1057517397
NM_000182.5(HADHA):c.1917T>A (p.Tyr639Ter)
NM_000182.5(HADHA):c.1921del (p.Glu641fs)
NM_000182.5(HADHA):c.1967del (p.Ile655_Leu656insTer) rs779113356
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs) rs749848370
NM_000182.5(HADHA):c.1990_1993dup (p.Ser665Ter) rs757671025
NM_000182.5(HADHA):c.2000+1G>A
NM_000182.5(HADHA):c.2000+1G>C rs1167218743
NM_000182.5(HADHA):c.2010del (p.Asp670fs)
NM_000182.5(HADHA):c.2011del (p.Glu671fs)
NM_000182.5(HADHA):c.2020C>T (p.Gln674Ter) rs2147749450
NM_000182.5(HADHA):c.2020dup (p.Gln674fs)
NM_000182.5(HADHA):c.2027G>A (p.Arg676His) rs1204190984
NM_000182.5(HADHA):c.2039_2040dup (p.Phe681fs)
NM_000182.5(HADHA):c.2063_2087dup (p.Glu699fs)
NM_000182.5(HADHA):c.2132dup (p.Pro712fs) rs1574600309
NM_000182.5(HADHA):c.2146+1G>A rs794727219
NM_000182.5(HADHA):c.2167_2168dup (p.Tyr724fs)
NM_000182.5(HADHA):c.2208T>A (p.Tyr736Ter) rs774114061
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs) rs868816467
NM_000182.5(HADHA):c.2231del (p.Phe744fs)
NM_000182.5(HADHA):c.238del (p.Trp80fs)
NM_000182.5(HADHA):c.274_278del (p.Ser92fs) rs781205883
NM_000182.5(HADHA):c.294del (p.Phe98fs) rs2147784383
NM_000182.5(HADHA):c.310dup (p.Ile104fs) rs1670773680
NM_000182.5(HADHA):c.315-2A>T
NM_000182.5(HADHA):c.340C>T (p.Gln114Ter) rs1670695733
NM_000182.5(HADHA):c.352_353del (p.Gln118fs) rs1670695370
NM_000182.5(HADHA):c.387_388del (p.Lys129fs) rs780350631
NM_000182.5(HADHA):c.469C>T (p.Gln157Ter)
NM_000182.5(HADHA):c.556C>T (p.Gln186Ter) rs2147781182
NM_000182.5(HADHA):c.574-2A>G rs1670591013
NM_000182.5(HADHA):c.612dup (p.Arg205Ter) rs1574623071
NM_000182.5(HADHA):c.637_638del (p.Lys213fs)
NM_000182.5(HADHA):c.676+1G>A rs1670587668
NM_000182.5(HADHA):c.690del (p.Lys230fs) rs2147769993
NM_000182.5(HADHA):c.6_24dup (p.Ile9fs) rs1456890163
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp) rs786204607
NM_000182.5(HADHA):c.703_704dup (p.Thr236fs)
NM_000182.5(HADHA):c.70dup (p.Tyr24fs)
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer) rs1553316176
NM_000182.5(HADHA):c.761_764del (p.Lys254fs)
NM_000182.5(HADHA):c.841C>T (p.Gln281Ter)
NM_000182.5(HADHA):c.844_845insA (p.Val282fs) rs774235292
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter) rs137852775
NM_000182.5(HADHA):c.878dup (p.Thr294fs)
NM_000182.5(HADHA):c.893del (p.Tyr298fs)
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn) rs137852774
NM_000182.5(HADHA):c.930_931del (p.Gly311fs)
NM_000182.5(HADHA):c.944_956del (p.Gly315fs)
NM_000182.5(HADHA):c.966_967del (p.Cys322_Glu323delinsTer) rs2147768516
NM_000186.4(CFH):c.1222C>T (p.Gln408Ter) rs121913061
NM_000186.4(CFH):c.350+6T>G rs387906550
NM_000186.4(CFH):c.3572C>T (p.Ser1191Leu) rs460897
NM_000191.3(HMGCL):c.308_317dup (p.Thr107fs) rs1274176298
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs) rs764264834
NM_000192.3:c.(362+1_363-1)_(*1602_?)del
NM_000192.3:c.(362+1_363-1)_(510+1_511-1)del
NM_000192.3:c.(510+1_511-1)_(663+1_664-1)del
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)del
NM_000192.3:c.(663+1_664-1)_(755+1_756-1)dup
NM_000192.3:c.(982+1_983-1)_(*1602_?)del
NM_000192.3:c.(?_-38)_(242+1_243-1)dup
NM_000192.3:c.(?_-667)_(*1602_?)del
NM_000192.3:c.(?_-667)_(755+1_756-1)dup
NM_000192.3:c.1033_1034dupGA
NM_000192.3:c.67_81delins
NM_000192.3:c.946C>T
NM_000203.3(IDUA):c.[1225G>C;1962A>T]
NM_000203.5(IDUA):c.1029C>A (p.Tyr343Ter) rs764196171
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.1096_1099del (p.Thr366fs) rs2153022399
NM_000203.5(IDUA):c.1163del (p.Thr388fs) rs1577541504
NM_000203.5(IDUA):c.1206G>A (p.Trp402Ter) rs991612107
NM_000203.5(IDUA):c.1210G>T (p.Glu404Ter) rs1340421020
NM_000203.5(IDUA):c.1402+2T>G rs1553917428
NM_000203.5(IDUA):c.1469T>C (p.Leu490Pro) rs121965027
NM_000203.5(IDUA):c.1496_1497del (p.Glu499fs) rs2153022799
NM_000203.5(IDUA):c.1854C>A (p.Tyr618Ter) rs746936485
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter) rs121965025
NM_000203.5(IDUA):c.1868T>C (p.Leu623Pro) rs2153023287
NM_000203.5(IDUA):c.1874A>G (p.Tyr625Cys) rs587779401
NM_000203.5(IDUA):c.1877G>A (p.Trp626Ter) rs1456090810
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter) rs2153015621
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) rs121965022
NM_000203.5(IDUA):c.1A>C (p.Met1Leu) rs1553914737
NM_000203.5(IDUA):c.300-4092_300-2318del
NM_000203.5(IDUA):c.385+1G>C rs780615798
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.494-1G>A rs794727701
NM_000203.5(IDUA):c.525G>A (p.Trp175Ter) rs776305028
NM_000203.5(IDUA):c.590-7G>A rs762411583
NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter) rs1033313360
NM_000203.5(IDUA):c.612_615dup (p.Ser206fs) rs875989947
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs) rs786200915
NM_000203.5(IDUA):c.784del (p.His262fs) rs757928590
NM_000203.5(IDUA):c.895G>T (p.Glu299Ter) rs1715120049
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter) rs121965023
NM_000214.2:c.(755+1_756-1)_(1120+1_1121-1)del
NM_000214.3(JAG1):c.1007-2A>G rs2122613705
NM_000214.3(JAG1):c.1013del (p.His338fs) rs2067347502
NM_000214.3(JAG1):c.1025_1026del (p.Leu341_Ser342insTer) rs2067347395
NM_000214.3(JAG1):c.1057G>T (p.Glu353Ter) rs1600185499
NM_000214.3(JAG1):c.107del (p.Glu36fs)
NM_000214.3(JAG1):c.1084delinsGGCTTTGA (p.Cys362fs) rs2067346904
NM_000214.3(JAG1):c.1101dup (p.Gly368fs) rs2122613554
NM_000214.3(JAG1):c.110T>C (p.Leu37Ser) rs121918352
NM_000214.3(JAG1):c.1121_1122insTCCT (p.Ile375fs) rs2067337118
NM_000214.3(JAG1):c.1139del (p.Pro380fs) rs2122611660
NM_000214.3(JAG1):c.1156G>A (p.Gly386Arg) rs863223650
NM_000214.3(JAG1):c.1181dup (p.Asn394fs)
NM_000214.3(JAG1):c.1188dup (p.Lys397Ter)
NM_000214.3(JAG1):c.1189A>T (p.Lys397Ter)
NM_000214.3(JAG1):c.1198_1199dup (p.Pro401fs) rs1555828843
NM_000214.3(JAG1):c.1205del (p.Pro402fs) rs35615084
NM_000214.3(JAG1):c.1205dup (p.Gln403fs) rs35615084
NM_000214.3(JAG1):c.1232T>A (p.Leu411Ter) rs2067336398
NM_000214.3(JAG1):c.123del (p.Met42fs)
NM_000214.3(JAG1):c.1263T>A (p.Cys421Ter)
NM_000214.3(JAG1):c.1308C>A (p.Cys436Ter) rs764485729
NM_000214.3(JAG1):c.1312dup (p.Cys438fs) rs2122610459
NM_000214.3(JAG1):c.1325G>A (p.Trp442Ter) rs1568796883
NM_000214.3(JAG1):c.1353dup (p.Asn452Ter) rs1060501347
NM_000214.3(JAG1):c.1362C>A (p.Cys454Ter)
NM_000214.3(JAG1):c.1363del (p.Gly456fs) rs2122609680
NM_000214.3(JAG1):c.1375C>T (p.Gln459Ter) rs1289016419
NM_000214.3(JAG1):c.1377_1378del (p.Gln459_Asn460insTer) rs2067328461
NM_000214.3(JAG1):c.1395+3A>G rs886044220
NM_000214.3(JAG1):c.142G>T (p.Glu48Ter) rs1600196580
NM_000214.3(JAG1):c.1437T>G (p.Tyr479Ter)
NM_000214.3(JAG1):c.1446_1448delinsC (p.His483fs) rs1568796241
NM_000214.3(JAG1):c.1448_1449del (p.His483fs) rs2122608890
NM_000214.3(JAG1):c.1452_1453del (p.Cys484_Glu485delinsTer) rs1568796236
NM_000214.3(JAG1):c.1470_1472dup (p.Cys491Ter)
NM_000214.3(JAG1):c.1485_1486del (p.Cys496fs) rs876660981
NM_000214.3(JAG1):c.1485del (p.Cys496fs) rs2122608799
NM_000214.3(JAG1):c.1489_1490dup (p.Leu497fs) rs2122608790
NM_000214.3(JAG1):c.1563_1564del (p.Cys522fs) rs2067324506
NM_000214.3(JAG1):c.1566T>A (p.Cys522Ter)
NM_000214.3(JAG1):c.1601del (p.Cys534fs) rs2067321711
NM_000214.3(JAG1):c.1603C>T (p.Gln535Ter)
NM_000214.3(JAG1):c.1627del (p.Arg543fs)
NM_000214.3(JAG1):c.1653C>A (p.Cys551Ter) rs2122607772
NM_000214.3(JAG1):c.1656del (p.Glu553fs) rs1568795820
NM_000214.3(JAG1):c.1657G>T (p.Glu553Ter) rs759763539
NM_000214.3(JAG1):c.1657del (p.Glu553fs)
NM_000214.3(JAG1):c.1666G>T (p.Glu556Ter) rs2122607723
NM_000214.3(JAG1):c.1687del (p.His562_Leu563insTer) rs2122607689
NM_000214.3(JAG1):c.1713del (p.Cys572fs)
NM_000214.3(JAG1):c.1713dup (p.Cys572fs) rs1555828546
NM_000214.3(JAG1):c.1720G>C (p.Val574Leu) rs2067320699
NM_000214.3(JAG1):c.1720G>T (p.Val574Leu) rs2067320699
NM_000214.3(JAG1):c.1764dup (p.Glu589Ter)
NM_000214.3(JAG1):c.1779T>A (p.Tyr593Ter) rs2122606277
NM_000214.3(JAG1):c.1822C>T (p.Gln608Ter)
NM_000214.3(JAG1):c.1829del (p.Gly610fs) rs2122606192
NM_000214.3(JAG1):c.1856_1857del (p.Lys619fs) rs1600182812
NM_000214.3(JAG1):c.1868dup (p.Thr624fs) rs2122606128
NM_000214.3(JAG1):c.1878C>A (p.Cys626Ter) rs2122606113
NM_000214.3(JAG1):c.1899_1900del (p.Cys633_Glu634delinsTer) rs1555828321
NM_000214.3(JAG1):c.1953C>A (p.Tyr651Ter)
NM_000214.3(JAG1):c.1961del (p.Ile654fs)
NM_000214.3(JAG1):c.1977G>A (p.Trp659Ter) rs1600182107
NM_000214.3(JAG1):c.1984del (p.Ala662fs)
NM_000214.3(JAG1):c.2026del (p.Cys676fs)
NM_000214.3(JAG1):c.2078_2079del (p.Asp692_Cys693insTer) rs2067301859
NM_000214.3(JAG1):c.2096_2100del (p.Gly699fs) rs886039393
NM_000214.3(JAG1):c.2113+1G>T rs1294950721
NM_000214.3(JAG1):c.2113+5G>C rs886044704
NM_000214.3(JAG1):c.2113del (p.Arg705fs)
NM_000214.3(JAG1):c.2122C>T (p.Gln708Ter) rs886044136
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs) rs727504412
NM_000214.3(JAG1):c.2123_2124del (p.Gln708fs) rs2122603085
NM_000214.3(JAG1):c.2172_2173dup (p.Asp725fs) rs1568794128
NM_000214.3(JAG1):c.2173dup (p.Asp725fs) rs1568794128
NM_000214.3(JAG1):c.217dup (p.Thr73fs)
NM_000214.3(JAG1):c.2209G>T (p.Gly737Ter) rs2122602893
NM_000214.3(JAG1):c.2230C>T (p.Arg744Ter) rs863223655
NM_000214.3(JAG1):c.2274_2275del (p.Val760fs)
NM_000214.3(JAG1):c.228del (p.Val77fs) rs2067506937
NM_000214.3(JAG1):c.2304C>A (p.Cys768Ter) rs755427292
NM_000214.3(JAG1):c.2318del (p.Gly773fs) rs2122602312
NM_000214.3(JAG1):c.2322G>A (p.Trp774Ter) rs1555828173
NM_000214.3(JAG1):c.2323del (p.Glu775fs) rs2067296758
NM_000214.3(JAG1):c.2341C>T (p.Gln781Ter)
NM_000214.3(JAG1):c.2342dup (p.Asn782fs) rs886039887
NM_000214.3(JAG1):c.2358C>A (p.Cys786Ter) rs1189479619
NM_000214.3(JAG1):c.2372+1G>T rs2067293664
NM_000214.3(JAG1):c.238A>T (p.Lys80Ter) rs1600196443
NM_000214.3(JAG1):c.2406del (p.Trp803fs)
NM_000214.3(JAG1):c.2412C>A (p.Tyr804Ter) rs2122600550
NM_000214.3(JAG1):c.2415del (p.Cys806fs)
NM_000214.3(JAG1):c.2418C>A (p.Cys806Ter) rs533306015
NM_000214.3(JAG1):c.2458+1G>A rs2122600431
NM_000214.3(JAG1):c.2458+2_2458+4del
NM_000214.3(JAG1):c.2473C>T (p.Gln825Ter) rs1437309558
NM_000214.3(JAG1):c.2505T>A (p.Cys835Ter)
NM_000214.3(JAG1):c.2507_2508del (p.Val836fs) rs1600179892
NM_000214.3(JAG1):c.2532T>A (p.Cys844Ter) rs1600179855
NM_000214.3(JAG1):c.2572+1G>C
NM_000214.3(JAG1):c.2572+1G>T
NM_000214.3(JAG1):c.2575dup (p.Ser859fs)
NM_000214.3(JAG1):c.2595dup (p.Met866fs)
NM_000214.3(JAG1):c.2611_2612delinsTG (p.Pro871Ter) rs2122597347
NM_000214.3(JAG1):c.2627G>A (p.Trp876Ter) rs2122597289
NM_000214.3(JAG1):c.2629dup (p.Asp877fs) rs2067274453
NM_000214.3(JAG1):c.2639_2640del (p.Asp879_Cys880insTer) rs1568792286
NM_000214.3(JAG1):c.2640dup (p.Asn881Ter)
NM_000214.3(JAG1):c.2650C>T (p.Gln884Ter) rs2122597239
NM_000214.3(JAG1):c.2688G>A (p.Trp896Ter) rs1060501350
NM_000214.3(JAG1):c.2690dup (p.Cys897fs) rs2067273607
NM_000214.3(JAG1):c.2698C>T (p.Arg900Ter) rs1555827789
NM_000214.3(JAG1):c.270dup (p.Pro91fs) rs863223667
NM_000214.3(JAG1):c.273del (p.Cys92fs) rs2122644538
NM_000214.3(JAG1):c.2759_2766del (p.Ile920fs)
NM_000214.3(JAG1):c.2774_2788delinsCCAGGGCA (p.Cys925fs) rs1555827769
NM_000214.3(JAG1):c.2840del (p.Lys947fs) rs1060501349
NM_000214.3(JAG1):c.2844C>A (p.Cys948Ter) rs1060501352
NM_000214.3(JAG1):c.2863C>T (p.Gln955Ter) rs2122596452
NM_000214.3(JAG1):c.2895dup (p.Asn966Ter) rs878853752
NM_000214.3(JAG1):c.2916+1G>C rs1568791920
NM_000214.3(JAG1):c.2917-1G>T rs2122595945
NM_000214.3(JAG1):c.2919del (p.Thr975fs)
NM_000214.3(JAG1):c.2966dup (p.Leu989fs) rs1555827729
NM_000214.3(JAG1):c.2990C>G (p.Ser997Ter) rs2067268487
NM_000214.3(JAG1):c.2999dup (p.Ala1001fs)
NM_000214.3(JAG1):c.3001_3002dup (p.Cys1002fs) rs2067268275
NM_000214.3(JAG1):c.3006C>A (p.Cys1002Ter) rs372984801
NM_000214.3(JAG1):c.3006_3024dup (p.Asn1009fs) rs2122595693
NM_000214.3(JAG1):c.3007G>T (p.Glu1003Ter) rs781509375
NM_000214.3(JAG1):c.3007_3017dup (p.Ala1008fs) rs1600178720
NM_000214.3(JAG1):c.3008_3012dup (p.Pro1006fs) rs1600178730
NM_000214.3(JAG1):c.3039dup (p.Val1014fs) rs2122595645
NM_000214.3(JAG1):c.3049-2A>G rs2122595262
NM_000214.3(JAG1):c.3057dup (p.Asp1020fs)
NM_000214.3(JAG1):c.3100A>T (p.Lys1034Ter) rs2122595154
NM_000214.3(JAG1):c.3164_3167del (p.Val1055fs) rs1555827653
NM_000214.3(JAG1):c.3164dup (p.Arg1056fs) rs2122595010
NM_000214.3(JAG1):c.3168_3169del (p.Arg1056fs) rs1555827650
NM_000214.3(JAG1):c.3196_3200del (p.Thr1066fs) rs2067265104
NM_000214.3(JAG1):c.3197dup (p.Asp1067fs)
NM_000214.3(JAG1):c.3203del (p.Phe1068fs) rs2122593684
NM_000214.3(JAG1):c.341del (p.Gly114fs)
NM_000214.3(JAG1):c.3452del (p.Thr1151fs)
NM_000214.3(JAG1):c.349del (p.Arg117fs)
NM_000214.3(JAG1):c.350del (p.Arg117fs) rs1555830929
NM_000214.3(JAG1):c.359T>C (p.Ile120Thr)
NM_000214.3(JAG1):c.377_378delinsAA (p.Phe126Ter) rs886039724
NM_000214.3(JAG1):c.388-2A>C rs2067434947
NM_000214.3(JAG1):c.390dup (p.Ser131fs) rs886044111
NM_000214.3(JAG1):c.3G>A (p.Met1Ile) rs1555831014
NM_000214.3(JAG1):c.408_409dup (p.Glu137fs) rs2067434779
NM_000214.3(JAG1):c.415T>G (p.Trp139Gly)
NM_000214.3(JAG1):c.439+1G>A rs863223648
NM_000214.3(JAG1):c.439C>T (p.Gln147Ter) rs886043606
NM_000214.3(JAG1):c.443del (p.Pro148fs)
NM_000214.3(JAG1):c.496C>T (p.Gln166Ter)
NM_000214.3(JAG1):c.532del (p.His178fs) rs2067394045
NM_000214.3(JAG1):c.543T>A (p.Tyr181Ter) rs1060501351
NM_000214.3(JAG1):c.550C>T (p.Arg184Cys) rs121918350
NM_000214.3(JAG1):c.551G>A (p.Arg184His) rs121918351
NM_000214.3(JAG1):c.558_567del (p.Cys187fs) rs2067393679
NM_000214.3(JAG1):c.578del (p.Gly193fs) rs2067393549
NM_000214.3(JAG1):c.622G>T (p.Gly208Ter) rs2122623590
NM_000214.3(JAG1):c.655dup (p.Thr219fs) rs2122623531
NM_000214.3(JAG1):c.659G>T (p.Cys220Phe)
NM_000214.3(JAG1):c.682G>T (p.Glu228Ter) rs1286744339
NM_000214.3(JAG1):c.693_694del (p.Arg231fs) rs876660978
NM_000214.3(JAG1):c.703C>T (p.Arg235Ter) rs876660980
NM_000214.3(JAG1):c.715dup (p.Ser239fs)
NM_000214.3(JAG1):c.734dup (p.Cys245fs) rs2122620277
NM_000214.3(JAG1):c.73_74del (p.Arg25fs) rs2067513100
NM_000214.3(JAG1):c.74dup (p.Ala26fs)
NM_000214.3(JAG1):c.753C>A (p.Cys251Ter)
NM_000214.3(JAG1):c.760C>T (p.Gln254Ter)
NM_000214.3(JAG1):c.771G>A (p.Trp257Ter)
NM_000214.3(JAG1):c.783C>G (p.Tyr261Ter) rs2122615158
NM_000214.3(JAG1):c.795C>A (p.Cys265Ter)
NM_000214.3(JAG1):c.821G>A (p.Gly274Asp) rs28939668
NM_000214.3(JAG1):c.841C>T (p.Gln281Ter) rs886043603
NM_000214.3(JAG1):c.871C>T (p.Gln291Ter) rs876661096
NM_000214.3(JAG1):c.878G>A (p.Cys293Tyr) rs1568798248
NM_000214.3(JAG1):c.87T>A (p.Cys29Ter)
NM_000214.3(JAG1):c.886+1G>A rs1600186024
NM_000214.3(JAG1):c.903dup (p.Thr302fs) rs2122614562
NM_000214.3(JAG1):c.910C>T (p.Gln304Ter) rs863223649
NM_000214.3(JAG1):c.912del (p.Gln304fs)
NM_000214.3(JAG1):c.932del (p.Thr311fs) rs1555829037
NM_000214.3(JAG1):c.936T>A (p.Cys312Ter) rs2122614453
NM_000214.3(JAG1):c.941del (p.Asn314fs)
NM_000214.3(JAG1):c.95C>A (p.Ser32Ter) rs2122644940
NM_000214.3(JAG1):c.983_984insGGTCCTGCCCTGAGG (p.Tyr328Ter)
NM_000214.3(JAG1):c.984T>G (p.Tyr328Ter) rs2122614368
NM_000214.3(JAG1):c.98G>T (p.Gly33Val) rs2122644925
NM_000218.2(KCNQ1):c.[1249G>A;760G>A]
NM_000218.3(KCNQ1):c.1000_1003del (p.Val334fs)
NM_000218.3(KCNQ1):c.1004_1005del (p.Phe335fs) rs794728581
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del) rs397508068
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000218.3(KCNQ1):c.1018_1020del (p.Phe340del) rs397508069
NM_000218.3(KCNQ1):c.1022C>A (p.Ala341Glu) rs12720459
NM_000218.3(KCNQ1):c.1022C>T (p.Ala341Val) rs12720459
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.3(KCNQ1):c.1027C>T (p.Pro343Ser) rs199472762
NM_000218.3(KCNQ1):c.102C>A (p.Cys34Ter)
NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.3(KCNQ1):c.1032+1G>C
NM_000218.3(KCNQ1):c.1032+1G>T
NM_000218.3(KCNQ1):c.1032+2T>C rs1848538318
NM_000218.3(KCNQ1):c.1032+5G>A rs397508071
NM_000218.3(KCNQ1):c.1033-1_1117dup
NM_000218.3(KCNQ1):c.1033G>A (p.Gly345Arg) rs199473471
NM_000218.3(KCNQ1):c.1033G>C (p.Gly345Arg) rs199473471
NM_000218.3(KCNQ1):c.1038del (p.Gly348fs)
NM_000218.3(KCNQ1):c.1046C>A (p.Ser349Ter) rs199472765
NM_000218.3(KCNQ1):c.1051T>C (p.Phe351Leu) rs779383393
NM_000218.3(KCNQ1):c.1066C>T (p.Gln356Ter) rs397508072
NM_000218.3(KCNQ1):c.1069C>T (p.Gln357Ter) rs1554894743
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.3(KCNQ1):c.1077_1088del (p.Gln359_Lys362del)
NM_000218.3(KCNQ1):c.1081C>T (p.Gln361Ter) rs794728571
NM_000218.3(KCNQ1):c.1095_1096delinsAT (p.Asn365_Arg366delinsLysTrp)
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410
NM_000218.3(KCNQ1):c.1097G>C (p.Arg366Pro) rs199473410
NM_000218.3(KCNQ1):c.1097G>T (p.Arg366Leu) rs199473410
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.3(KCNQ1):c.1122del (p.Ile375fs)
NM_000218.3(KCNQ1):c.1124_1127del (p.Ile375fs) rs397508077
NM_000218.3(KCNQ1):c.1126C>T (p.Gln376Ter) rs1564825414
NM_000218.3(KCNQ1):c.1129-4_1151del
NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg) rs199472768
NM_000218.3(KCNQ1):c.1138A>T (p.Arg380Trp) rs199472770
NM_000218.3(KCNQ1):c.1140G>T (p.Arg380Ser) rs199472771
NM_000218.3(KCNQ1):c.1148dup (p.Ala384fs) rs2133758146
NM_000218.3(KCNQ1):c.115G>T (p.Glu39Ter) rs1554958045
NM_000218.3(KCNQ1):c.1175G>A (p.Trp392Ter) rs1060500629
NM_000218.3(KCNQ1):c.1182del (p.Tyr395fs) rs2133758295
NM_000218.3(KCNQ1):c.1201dup (p.Arg401fs) rs397508082
NM_000218.3(KCNQ1):c.1207del (p.His403fs) rs1848612978
NM_000218.3(KCNQ1):c.1210_1222del (p.Thr404fs) rs2133758446
NM_000218.3(KCNQ1):c.1219_1220insG (p.Ser407fs)
NM_000218.3(KCNQ1):c.1233del (p.Lys411fs) rs1848613641
NM_000218.3(KCNQ1):c.1240A>T (p.Lys414Ter)
NM_000218.3(KCNQ1):c.1250dup (p.Val418fs) rs2133758591
NM_000218.3(KCNQ1):c.1251+1G>A rs1589968661
NM_000218.3(KCNQ1):c.1257del (p.Lys422fs) rs1554895166
NM_000218.3(KCNQ1):c.1262_1265del (p.Lys421fs) rs397508083
NM_000218.3(KCNQ1):c.1265del (p.Lys422fs) rs397508083
NM_000218.3(KCNQ1):c.1265dup (p.Phe423fs) rs397508083
NM_000218.3(KCNQ1):c.1281dup (p.Asp428fs)
NM_000218.3(KCNQ1):c.1325del (p.His442fs) rs1135401944
NM_000218.3(KCNQ1):c.1343del (p.Pro448fs) rs397508087
NM_000218.3(KCNQ1):c.1343dup (p.Glu449fs) rs397508087
NM_000218.3(KCNQ1):c.1344dup (p.Glu449fs) rs1848631690
NM_000218.3(KCNQ1):c.1354del (p.Arg452fs) rs2133760795
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter) rs794728527
NM_000218.3(KCNQ1):c.1394-1G>C rs775537394
NM_000218.3(KCNQ1):c.1394-1G>T rs775537394
NM_000218.3(KCNQ1):c.1394-2A>G rs2133855926
NM_000218.3(KCNQ1):c.1426_1429del (p.Met476fs) rs1554903804
NM_000218.3(KCNQ1):c.1446del (p.Asn483fs) rs794728558
NM_000218.3(KCNQ1):c.1476del (p.Glu494fs)
NM_000218.3(KCNQ1):c.1480dup (p.Glu494fs) rs878854349
NM_000218.3(KCNQ1):c.1486_1487del (p.Leu496fs) rs397508090
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1525_1544del (p.His509fs)
NM_000218.3(KCNQ1):c.1534del (p.Ala512fs) rs1554919471
NM_000218.3(KCNQ1):c.153C>A (p.Tyr51Ter) rs397508096
NM_000218.3(KCNQ1):c.153C>G (p.Tyr51Ter) rs397508096
NM_000218.3(KCNQ1):c.1542_1551del (p.Lys515fs) rs1846542419
NM_000218.3(KCNQ1):c.1552C>G (p.Arg518Gly) rs17215500
NM_000218.3(KCNQ1):c.1559T>C (p.Met520Thr) rs199473479
NM_000218.3(KCNQ1):c.1559T>G (p.Met520Arg) rs199473479
NM_000218.3(KCNQ1):c.1559_1562del (p.Met520fs)
NM_000218.3(KCNQ1):c.1571T>G (p.Val524Gly) rs199472790
NM_000218.3(KCNQ1):c.1574C>T (p.Ala525Val) rs199472791
NM_000218.3(KCNQ1):c.1583_1584insTA (p.Lys528fs)
NM_000218.3(KCNQ1):c.1591-1G>A rs1590081328
NM_000218.3(KCNQ1):c.1591C>T (p.Gln531Ter) rs1381293874
NM_000218.3(KCNQ1):c.1608C>A (p.Tyr536Ter) rs138551008
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.160_175del (p.Ile54fs) rs2133559667
NM_000218.3(KCNQ1):c.1610_1614dup (p.Arg539fs) rs1554920580
NM_000218.3(KCNQ1):c.1616G>A (p.Arg539Gln) rs199472794
NM_000218.3(KCNQ1):c.1630_1635delinsGTTGAGA (p.Gln544fs) rs397515637
NM_000218.3(KCNQ1):c.1637C>T (p.Ser546Leu) rs199473480
NM_000218.3(KCNQ1):c.165_187del (p.Gly57fs) rs794728563
NM_000218.3(KCNQ1):c.1660del (p.Val554fs) rs794728561
NM_000218.3(KCNQ1):c.1663C>A (p.Arg555Ser) rs120074185
NM_000218.3(KCNQ1):c.1663C>T (p.Arg555Cys) rs120074185
NM_000218.3(KCNQ1):c.1669A>G (p.Lys557Glu) rs199472801
NM_000218.3(KCNQ1):c.1685+1G>A rs794728531
NM_000218.3(KCNQ1):c.1685+2T>C rs1590081467
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.1686del rs794728562
NM_000218.3(KCNQ1):c.1697C>A (p.Ser566Tyr) rs199472804
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) rs199472805
NM_000218.3(KCNQ1):c.1702G>A (p.Gly568Arg) rs199472807
NM_000218.3(KCNQ1):c.1703G>C (p.Gly568Ala) rs199472806
NM_000218.3(KCNQ1):c.1710del (p.Ser571fs) rs397508099
NM_000218.3(KCNQ1):c.1730C>G (p.Ser577Ter) rs2133990821
NM_000218.3(KCNQ1):c.1732+5del rs1554920833
NM_000218.3(KCNQ1):c.1733-1G>C rs878854348
NM_000218.3(KCNQ1):c.1733-2A>G rs2133992122
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.3(KCNQ1):c.1762A>T (p.Ile588Phe) rs794728536
NM_000218.3(KCNQ1):c.1771C>T (p.Arg591Cys) rs199473483
NM_000218.3(KCNQ1):c.1772G>A (p.Arg591His) rs199472814
NM_000218.3(KCNQ1):c.1772G>T (p.Arg591Leu) rs199472814
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter) rs794728537
NM_000218.3(KCNQ1):c.1783del (p.Arg594_Val595insTer) rs765169367
NM_000218.3(KCNQ1):c.1792_1793del (p.Lys598fs) rs2133992401
NM_000218.3(KCNQ1):c.1795-2A>G rs867564993
NM_000218.3(KCNQ1):c.1801C>T (p.Gln601Ter) rs794728540
NM_000218.3(KCNQ1):c.1810dup (p.Gln604fs) rs1848361555
NM_000218.3(KCNQ1):c.1875dup (p.Gly626fs) rs2134097007
NM_000218.3(KCNQ1):c.1892_1911del (p.Pro631fs) rs397508103
NM_000218.3(KCNQ1):c.1893del (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.1893dup (p.Arg632fs) rs397508104
NM_000218.3(KCNQ1):c.1894dup (p.Arg632fs) rs397508105
NM_000218.3(KCNQ1):c.1A>T (p.Met1Leu) rs199473441
NM_000218.3(KCNQ1):c.200_210del (p.Pro67fs) rs1435990592
NM_000218.3(KCNQ1):c.200del (p.Pro67fs) rs1060500623
NM_000218.3(KCNQ1):c.202GCCGCGCCC[1] (p.68AAP[1]) rs397508107
NM_000218.3(KCNQ1):c.302T>A (p.Leu101Ter) rs2133560140
NM_000218.3(KCNQ1):c.344A>G (p.Glu115Gly) rs199472679
NM_000218.3(KCNQ1):c.350C>T (p.Pro117Leu) rs120074191
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg) rs1325525794
NM_000218.3(KCNQ1):c.355_356insC (p.Gly119fs)
NM_000218.3(KCNQ1):c.359G>A (p.Trp120Ter) rs2133560305
NM_000218.3(KCNQ1):c.361_370del (p.Lys121fs) rs2133560315
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs) rs397508109
NM_000218.3(KCNQ1):c.382_383dup (p.Val129fs) rs1554958132
NM_000218.3(KCNQ1):c.385del (p.Val129fs) rs2133560394
NM_000218.3(KCNQ1):c.398del (p.Val133fs)
NM_000218.3(KCNQ1):c.403del (p.Val135fs) rs794728565
NM_000218.3(KCNQ1):c.418A>G (p.Ser140Gly) rs120074192
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.3(KCNQ1):c.430A>G (p.Thr144Ala) rs199473451
NM_000218.3(KCNQ1):c.443del (p.Tyr148fs) rs878854347
NM_000218.3(KCNQ1):c.451_452del (p.Leu151fs) rs397508110
NM_000218.3(KCNQ1):c.468_469del (p.Phe157fs) rs1064795333
NM_000218.3(KCNQ1):c.477+1G>C
NM_000218.3(KCNQ1):c.477+2T>C rs2133650175
NM_000218.3(KCNQ1):c.47_48del (p.Gly16fs)
NM_000218.3(KCNQ1):c.488del (p.Leu163fs) rs397508112
NM_000218.3(KCNQ1):c.500_502del (p.Phe167_Gly168delinsTrp) rs397508113
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg) rs179489
NM_000218.3(KCNQ1):c.504del (p.Thr169fs) rs397508114
NM_000218.3(KCNQ1):c.513C>A (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.513C>G (p.Tyr171Ter) rs139042529
NM_000218.3(KCNQ1):c.51G>A (p.Trp17Ter) rs1589884185
NM_000218.3(KCNQ1):c.521G>T (p.Arg174Leu) rs199472697
NM_000218.3(KCNQ1):c.524_534del (p.Leu175fs) rs763462603
NM_000218.3(KCNQ1):c.524_534dup (p.Gly179fs) rs763462603
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000218.3(KCNQ1):c.532G>C (p.Ala178Pro) rs120074177
NM_000218.3(KCNQ1):c.533delinsGG (p.Ala178fs) rs397508115
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser) rs199473397
NM_000218.3(KCNQ1):c.551dup (p.Tyr184Ter) rs794728547
NM_000218.3(KCNQ1):c.554_575del (p.Val185fs)
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp) rs794728568
NM_000218.3(KCNQ1):c.562del (p.Trp188fs) rs397508116
NM_000218.3(KCNQ1):c.564G>A (p.Trp188Ter) rs530612385
NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg) rs104894252
NM_000218.3(KCNQ1):c.566_567del (p.Gly189fs) rs397508117
NM_000218.3(KCNQ1):c.567dup (p.Arg190fs) rs397508117
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.585del (p.Lys196fs) rs397508120
NM_000218.3(KCNQ1):c.587dup (p.Pro197fs)
NM_000218.3(KCNQ1):c.595T>G (p.Ser199Ala) rs199472701
NM_000218.3(KCNQ1):c.603_604+9del rs794728580
NM_000218.3(KCNQ1):c.604+2T>C rs1848322089
NM_000218.3(KCNQ1):c.605-2A>G rs2133728692
NM_000218.3(KCNQ1):c.608T>C (p.Leu203Pro) rs199472823
NM_000218.3(KCNQ1):c.625T>C (p.Ser209Pro) rs199472705
NM_000218.3(KCNQ1):c.626_627insA (p.Met210fs)
NM_000218.3(KCNQ1):c.642C>A (p.Cys214Ter) rs775479779
NM_000218.3(KCNQ1):c.666del (p.Phe222fs)
NM_000218.3(KCNQ1):c.686G>A (p.Gly229Asp) rs199472708
NM_000218.3(KCNQ1):c.691C>A (p.Arg231Ser) rs199473457
NM_000218.3(KCNQ1):c.692_693dup (p.Phe232fs) rs1589957697
NM_000218.3(KCNQ1):c.700C>T (p.Gln234Ter) rs2133730365
NM_000218.3(KCNQ1):c.704T>A (p.Ile235Asn) rs199472710
NM_000218.3(KCNQ1):c.706del (p.Ile235_Leu236insTer) rs1589957719
NM_000218.3(KCNQ1):c.707T>C (p.Leu236Pro) rs794728512
NM_000218.3(KCNQ1):c.721_726del (p.Val241_Asp242del)
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr) rs199472712
NM_000218.3(KCNQ1):c.728G>C (p.Arg243Pro) rs120074196
NM_000218.3(KCNQ1):c.730C>T (p.Gln244Ter) rs1554893091
NM_000218.3(KCNQ1):c.733G>T (p.Gly245Ter) rs1060500628
NM_000218.3(KCNQ1):c.733_734del (p.Gly245fs) rs1554893092
NM_000218.3(KCNQ1):c.739_748del (p.Thr247fs) rs1564820786
NM_000218.3(KCNQ1):c.743G>A (p.Trp248Ter) rs1848344878
NM_000218.3(KCNQ1):c.745_746dup (p.Leu250fs) rs1221462654
NM_000218.3(KCNQ1):c.745_754del (p.Arg249fs) rs1060500626
NM_000218.3(KCNQ1):c.752T>C (p.Leu251Pro) rs199472716
NM_000218.3(KCNQ1):c.758C>G (p.Ser253Cys) rs794728513
NM_000218.3(KCNQ1):c.760G>A (p.Val254Met) rs120074179
NM_000218.3(KCNQ1):c.770_773del (p.Ile257fs) rs2133730716
NM_000218.3(KCNQ1):c.771_775dup (p.Arg259fs) rs2133730742
NM_000218.3(KCNQ1):c.773A>C (p.His258Pro) rs199472718
NM_000218.3(KCNQ1):c.775C>G (p.Arg259Gly)
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.776G>T (p.Arg259Leu) rs199472720
NM_000218.3(KCNQ1):c.778C>T (p.Gln260Ter) rs1848346228
NM_000218.3(KCNQ1):c.781_782delinsTT (p.Glu261Leu) rs1060500621
NM_000218.3(KCNQ1):c.783G>C (p.Glu261Asp) rs199472721
NM_000218.3(KCNQ1):c.785T>C (p.Leu262Pro) rs1564821090
NM_000218.3(KCNQ1):c.788del (p.Ile263fs)
NM_000218.3(KCNQ1):c.790_791del (p.Thr264fs)
NM_000218.3(KCNQ1):c.796del (p.Leu266fs) rs397508125
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.3(KCNQ1):c.803T>G (p.Ile268Ser) rs199472725
NM_000218.3(KCNQ1):c.805G>A (p.Gly269Ser) rs120074193
NM_000218.3(KCNQ1):c.813_818del (p.Gly272_Leu273del) rs1848360153
NM_000218.3(KCNQ1):c.817C>T (p.Leu273Phe) rs120074180
NM_000218.3(KCNQ1):c.821TCT[1] (p.Phe275del) rs397508126
NM_000218.3(KCNQ1):c.825CTC[1] (p.Ser277del) rs397508127
NM_000218.3(KCNQ1):c.834C>G (p.Tyr278Ter) rs1554893228
NM_000218.3(KCNQ1):c.835T>A (p.Phe279Ile) rs1057519584
NM_000218.3(KCNQ1):c.837dup (p.Val280fs) rs2133732704
NM_000218.3(KCNQ1):c.850_852del (p.Glu284del) rs1064796353
NM_000218.3(KCNQ1):c.862_880del (p.Val288fs) rs397508129
NM_000218.3(KCNQ1):c.899C>A (p.Ala300Glu) rs1001293702
NM_000218.3(KCNQ1):c.905C>A (p.Ala302Glu) rs193922365
NM_000218.3(KCNQ1):c.910T>C (p.Trp304Arg) rs199473466
NM_000218.3(KCNQ1):c.913T>A (p.Trp305Arg)
NM_000218.3(KCNQ1):c.913_916dup (p.Gly306fs) rs2133733054
NM_000218.3(KCNQ1):c.914G>C (p.Trp305Ser) rs120074186
NM_000218.3(KCNQ1):c.914G>T (p.Trp305Leu) rs120074186
NM_000218.3(KCNQ1):c.916G>A (p.Gly306Arg) rs120074181
NM_000218.3(KCNQ1):c.916G>C (p.Gly306Arg) rs120074181
NM_000218.3(KCNQ1):c.919G>C (p.Val307Leu) rs120074195
NM_000218.3(KCNQ1):c.919del (p.Val307fs) rs2133733071
NM_000218.3(KCNQ1):c.921+1G>A rs397508130
NM_000218.3(KCNQ1):c.921+1G>T rs397508130
NM_000218.3(KCNQ1):c.922-1G>C rs387906290
NM_000218.3(KCNQ1):c.922-2A>G rs397508133
NM_000218.3(KCNQ1):c.926C>T (p.Thr309Ile) rs199472743
NM_000218.3(KCNQ1):c.932CCA[1] (p.Thr312del) rs1564824264
NM_000218.3(KCNQ1):c.934_941dup (p.Tyr315fs) rs2133750610
NM_000218.3(KCNQ1):c.935C>T (p.Thr312Ile) rs120074182
NM_000218.3(KCNQ1):c.940G>A (p.Gly314Ser) rs120074184
NM_000218.3(KCNQ1):c.944A>C (p.Tyr315Ser) rs74462309
NM_000218.3(KCNQ1):c.944A>G (p.Tyr315Cys) rs74462309
NM_000218.3(KCNQ1):c.946G>A (p.Gly316Arg) rs104894255
NM_000218.3(KCNQ1):c.949G>A (p.Asp317Asn) rs199472751
NM_000218.3(KCNQ1):c.94A>T (p.Lys32Ter) rs1554958043
NM_000218.3(KCNQ1):c.950A>G (p.Asp317Gly) rs199472750
NM_000218.3(KCNQ1):c.957_958delinsTT (p.Pro320Ser)
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000218.3(KCNQ1):c.959C>A (p.Pro320His) rs199473470
NM_000218.3(KCNQ1):c.961C>T (p.Gln321Ter) rs794728517
NM_000218.3(KCNQ1):c.964A>G (p.Thr322Ala) rs199472754
NM_000218.3(KCNQ1):c.965C>T (p.Thr322Met) rs199472755
NM_000218.3(KCNQ1):c.968G>A (p.Trp323Ter)
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000218.3(KCNQ1):c.973G>C (p.Gly325Arg) rs199472756
NM_000218.3(KCNQ1):c.998_999del (p.Ser333fs) rs397508134
NM_000219.6(KCNE1):c.106dup (p.Arg36fs)
NM_000219.6(KCNE1):c.12dup (p.Asn5Ter) rs1131691762
NM_000219.6(KCNE1):c.138C>A (p.Tyr46Ter) rs758346045
NM_000219.6(KCNE1):c.154G>A (p.Gly52Arg) rs199473354
NM_000219.6(KCNE1):c.199C>T (p.Arg67Cys) rs199473645
NM_000219.6(KCNE1):c.1A>T (p.Met1Leu) rs2123460074
NM_000219.6(KCNE1):c.202_205del (p.Ser68fs) rs1555843953
NM_000219.6(KCNE1):c.20C>T (p.Thr7Ile) rs28933384
NM_000219.6(KCNE1):c.227_229delinsTCTA (p.Asp76fs) rs1555843898
NM_000219.6(KCNE1):c.230del (p.Pro77fs) rs2123457833
NM_000219.6(KCNE1):c.292C>T (p.Arg98Trp) rs199473362
NM_000219.6(KCNE1):c.50G>A (p.Trp17Ter) rs779124360
NM_000219.6(KCNE1):c.51G>A (p.Trp17Ter) rs1244688796
NM_000219.6(KCNE1):c.94dup (p.Arg32fs) rs1601044831
NM_000231.3(SGCG):c.105T>A (p.Cys35Ter) rs760108586
NM_000231.3(SGCG):c.128T>A (p.Leu43Ter) rs2137501447
NM_000231.3(SGCG):c.158T>C (p.Leu53Pro) rs781760379
NM_000231.3(SGCG):c.167G>A (p.Trp56Ter) rs1351510337
NM_000231.3(SGCG):c.174_175insTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACAATTTGGATTCTT (p.Lys59delinsPhePhePhePhePhePheXaaXaaXaaXaaValSerGlnAspGlyLeuAspLeuLeuThrSerTer) rs2137501542
NM_000231.3(SGCG):c.177dup (p.Val60fs) rs2137501584
NM_000231.3(SGCG):c.195+4_195+7del rs797045106
NM_000231.3(SGCG):c.205G>C (p.Gly69Arg)
NM_000231.3(SGCG):c.216T>A (p.Cys72Ter)
NM_000231.3(SGCG):c.241_297+1169del
NM_000231.3(SGCG):c.260T>G (p.Leu87Ter)
NM_000231.3(SGCG):c.298-1G>A rs79500874
NM_000231.3(SGCG):c.298-2A>G
NM_000231.3(SGCG):c.333del (p.Thr112fs) rs1593197637
NM_000231.3(SGCG):c.361del (p.Glu121fs) rs1879928532
NM_000231.3(SGCG):c.452_458del (p.Leu150_Phe151insTer) rs886042540
NM_000231.3(SGCG):c.496C>T (p.Arg166Ter) rs1881219252
NM_000231.3(SGCG):c.505+2T>C rs1593216248
NM_000231.3(SGCG):c.511G>T (p.Glu171Ter) rs1881865054
NM_000231.3(SGCG):c.524_527del (p.Phe175fs) rs2137644682
NM_000231.3(SGCG):c.525del (p.Phe175fs) rs786204786
NM_000231.3(SGCG):c.526G>T (p.Glu176Ter) rs768134426
NM_000231.3(SGCG):c.528_534del (p.His177fs)
NM_000231.3(SGCG):c.533C>G (p.Ser178Ter) rs1011397929
NM_000231.3(SGCG):c.533del (p.His177_Ser178insTer) rs1180551378
NM_000231.3(SGCG):c.549dup (p.Val184fs) rs2137644772
NM_000231.3(SGCG):c.579-5729_702+1720del
NM_000231.3(SGCG):c.581T>G (p.Leu194Ter) rs547818652
NM_000231.3(SGCG):c.582dup (p.Glu195fs)
NM_000231.3(SGCG):c.599del (p.Ser200fs) rs886043860
NM_000231.3(SGCG):c.648_649insC (p.Lys217fs) rs2137528211
NM_000231.3(SGCG):c.649A>T (p.Lys217Ter) rs1325816562
NM_000231.3(SGCG):c.66T>A (p.Tyr22Ter) rs376410504
NM_000231.3(SGCG):c.673_674insTATTCTTTTTCTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Asp225delinsValPhePhePhePhePhePhePhePhePheXaaXaaXaaXaaAspGlyValSerProCysTer) rs2137528297
NM_000231.3(SGCG):c.690T>A (p.Ser230Arg) rs875989949
NM_000231.3(SGCG):c.699_702del (p.Met234fs) rs2137528349
NM_000231.3(SGCG):c.727_728del (p.Cys243fs) rs758078849
NM_000231.3(SGCG):c.730_732delinsAGCAT (p.Leu244fs) rs1883154291
NM_000231.3(SGCG):c.735del (p.Lys246fs)
NM_000231.3(SGCG):c.768del (p.Ser257fs) rs1199421806
NM_000231.3(SGCG):c.775_776del (p.Gln259fs) rs2137534154
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.824_827del (p.Ser275fs) rs1361450354
NM_000231.3(SGCG):c.82del (p.Ile28fs)
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000231.3(SGCG):c.87T>A (p.Tyr29Ter) rs1196026821
NM_000231.3(SGCG):c.89del (p.Gly30fs)
NM_000231.3(SGCG):c.92G>A (p.Trp31Ter)
NM_000232.5(SGCB):c.-10_13del (p.Met1fs) rs2109380910
NM_000232.5(SGCB):c.-10_16dup (p.Ala6fs)
NM_000232.5(SGCB):c.-10_19dup (p.Ala7fs)
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs) rs1553940963
NM_000232.5(SGCB):c.-12_23dup (p.Ala9fs)
NM_000232.5(SGCB):c.-12_8dup (p.Ala4fs) rs1207685911
NM_000232.5(SGCB):c.-15_8dup (p.Ala5fs)
NM_000232.5(SGCB):c.-18_8dup (p.Ala6fs) rs2109380938
NM_000232.5(SGCB):c.-8_8dup (p.Ala4fs)
NM_000232.5(SGCB):c.102del (p.Glu35fs) rs2109376007
NM_000232.5(SGCB):c.132C>G (p.Tyr44Ter) rs1737305761
NM_000232.5(SGCB):c.165_166del (p.Gly56fs)
NM_000232.5(SGCB):c.243+2T>C rs1553940661
NM_000232.5(SGCB):c.243+3_243+6del rs1553940660
NM_000232.5(SGCB):c.253_254del (p.Val85fs) rs1553940274
NM_000232.5(SGCB):c.255dup (p.Ile86fs) rs2109372084
NM_000232.5(SGCB):c.261G>A (p.Trp87Ter) rs2109372060
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.28G>T (p.Glu10Ter) rs1448040082
NM_000232.5(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000232.5(SGCB):c.29_33del (p.Glu10fs) rs1057517064
NM_000232.5(SGCB):c.2T>C (p.Met1Thr) rs1737457235
NM_000232.5(SGCB):c.30del (p.Glu10fs) rs2109380824
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg) rs104893870
NM_000232.5(SGCB):c.325C>T (p.Arg109Ter) rs750773622
NM_000232.5(SGCB):c.32dup (p.Gln12fs) rs796065319
NM_000232.5(SGCB):c.34-1G>A rs1484409119
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer) rs1578126090
NM_000232.5(SGCB):c.36_37delinsG (p.Ser13fs)
NM_000232.5(SGCB):c.373dup (p.Ser125fs) rs2109371877
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer) rs751427729
NM_000232.5(SGCB):c.37del (p.Ser13fs)
NM_000232.5(SGCB):c.391C>T (p.Arg131Ter) rs1013015106
NM_000232.5(SGCB):c.3G>T (p.Met1Ile) rs2109380946
NM_000232.5(SGCB):c.433del (p.Val145fs)
NM_000232.5(SGCB):c.460_482del (p.Ser154fs)
NM_000232.5(SGCB):c.466_467del (p.Glu156fs) rs1578125670
NM_000232.5(SGCB):c.494del (p.Asp165fs)
NM_000232.5(SGCB):c.539dup (p.Ser181fs) rs1737176330
NM_000232.5(SGCB):c.543_547del (p.Ser181fs)
NM_000232.5(SGCB):c.544A>G (p.Thr182Ala)
NM_000232.5(SGCB):c.551_552del (p.Asp183_Tyr184insTer) rs1057517051
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter) rs104893868
NM_000232.5(SGCB):c.558_568del (p.His187fs)
NM_000232.5(SGCB):c.567dup (p.His190fs) rs1263020044
NM_000232.5(SGCB):c.572del (p.Leu191fs) rs886042546
NM_000232.5(SGCB):c.579dup (p.Gly194fs) rs2109370922
NM_000232.5(SGCB):c.583dup (p.Val195fs)
NM_000232.5(SGCB):c.595_598del (p.Asn199fs) rs762114570
NM_000232.5(SGCB):c.621+1G>A rs1264362642
NM_000232.5(SGCB):c.622-1G>C rs2109370093
NM_000232.5(SGCB):c.622-1G>T
NM_000232.5(SGCB):c.650del (p.Asn217fs) rs1553940079
NM_000232.5(SGCB):c.656_657del (p.Lys219fs) rs775458201
NM_000232.5(SGCB):c.661_662insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGTTG (p.Val220_Asp221insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaLysLysLysLysLysLysLysLysVal)
NM_000232.5(SGCB):c.708_709insTTTTCATTATGGGC (p.Lys237fs)
NM_000232.5(SGCB):c.735_736del (p.Asn246fs) rs2109369924
NM_000232.5(SGCB):c.82G>T (p.Glu28Ter) rs771814273
NM_000232.5(SGCB):c.82_86del (p.Glu28fs) rs1553940687
NM_000232.5(SGCB):c.85dup (p.Arg29fs) rs2109376054
NM_000232.5(SGCB):c.87_89del (p.Arg30del) rs780654411
NM_000232.5:c.74_283del
NM_000238.3(KCNH2):c.1498_1524del27 (p.Ile500_Phe508del) rs794728438
NM_000238.3(KCNH2):c.473_501dup (p.Pro168Alafs) rs863224478
NM_000238.4(KCNH2):c.1003C>T (p.Gln335Ter) rs1801410644
NM_000238.4(KCNH2):c.100del (p.Ala34fs) rs794728506
NM_000238.4(KCNH2):c.1027del (p.Leu343fs) rs1801409660
NM_000238.4(KCNH2):c.1096C>T (p.Arg366Ter) rs794728364
NM_000238.4(KCNH2):c.1102del (p.His368fs) rs1584863723
NM_000238.4(KCNH2):c.1112_1113dup (p.Glu372fs) rs1801406108
NM_000238.4(KCNH2):c.1121_1122del (p.Val374fs) rs1554427317
NM_000238.4(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.4(KCNH2):c.1129-1G>A rs794728478
NM_000238.4(KCNH2):c.1129-2A>G rs794728365
NM_000238.4(KCNH2):c.1132_1133del (p.Leu378fs) rs1563161565
NM_000238.4(KCNH2):c.1139del (p.Leu380fs) rs1563161538
NM_000238.4(KCNH2):c.1181del (p.Arg394fs)
NM_000238.4(KCNH2):c.1193G>A (p.Trp398Ter) rs794728366
NM_000238.4(KCNH2):c.1197del (p.Ile400fs) rs1801232040
NM_000238.4(KCNH2):c.1229G>A (p.Trp410Ter) rs199472892
NM_000238.4(KCNH2):c.1260C>G (p.Tyr420Ter)
NM_000238.4(KCNH2):c.1261del (p.Thr421fs) rs1554426258
NM_000238.4(KCNH2):c.1264G>A (p.Ala422Thr) rs199472895
NM_000238.4(KCNH2):c.127T>G (p.Tyr43Asp) rs199472837
NM_000238.4(KCNH2):c.1285del (p.Ala429fs) rs794728498
NM_000238.4(KCNH2):c.128A>G (p.Tyr43Cys) rs199472836
NM_000238.4(KCNH2):c.1298_1304del (p.Leu433fs) rs2116971722
NM_000238.4(KCNH2):c.1326_1347del (p.Thr443fs)
NM_000238.4(KCNH2):c.1328_1349dup (p.Gln450fs)
NM_000238.4(KCNH2):c.1330G>T (p.Glu444Ter) rs201268831
NM_000238.4(KCNH2):c.1335dup (p.Gly446fs) rs1554426219
NM_000238.4(KCNH2):c.1348C>T (p.Gln450Ter) rs1563160541
NM_000238.4(KCNH2):c.1379del (p.Asp460fs) rs1584856544
NM_000238.4(KCNH2):c.1397A>C (p.Asp466Ala) rs1584856497
NM_000238.4(KCNH2):c.1408A>G (p.Asn470Asp) rs121912505
NM_000238.4(KCNH2):c.140G>T (p.Gly47Val) rs199473490
NM_000238.4(KCNH2):c.1420_1472del (p.Thr474fs) rs2116969765
NM_000238.4(KCNH2):c.1425C>A (p.Tyr475Ter) rs760584131
NM_000238.4(KCNH2):c.1468G>A (p.Ala490Thr) rs28928905
NM_000238.4(KCNH2):c.146_147delinsAA (p.Cys49Ter) rs1584883377
NM_000238.4(KCNH2):c.1479C>A (p.Tyr493Ter) rs878853771
NM_000238.4(KCNH2):c.1501G>A (p.Asp501Asn) rs199472912
NM_000238.4(KCNH2):c.1513del (p.Ala505fs) rs1064793832
NM_000238.4(KCNH2):c.154del (p.Cys52fs) rs794728508
NM_000238.4(KCNH2):c.1557+1G>C rs886039043
NM_000238.4(KCNH2):c.1557+2T>C rs1584855956
NM_000238.4(KCNH2):c.156C>A (p.Cys52Ter) rs754921704
NM_000238.4(KCNH2):c.1578del (p.Ala527fs) rs1801183828
NM_000238.4(KCNH2):c.1580del (p.Ala527fs)
NM_000238.4(KCNH2):c.1582_1603del (p.Arg528fs) rs2116964263
NM_000238.4(KCNH2):c.1591C>T (p.Arg531Trp) rs199472915
NM_000238.4(KCNH2):c.1600C>T (p.Arg534Cys) rs199472916
NM_000238.4(KCNH2):c.1624del (p.Tyr542fs)
NM_000238.4(KCNH2):c.1626C>A (p.Tyr542Ter)
NM_000238.4(KCNH2):c.1629dup (p.Glu544fs) rs2116963916
NM_000238.4(KCNH2):c.164C>A (p.Ser55Ter) rs199472844
NM_000238.4(KCNH2):c.1655T>A (p.Leu552Ter) rs199472918
NM_000238.4(KCNH2):c.1672G>C (p.Ala558Pro) rs121912516
NM_000238.4(KCNH2):c.1676_1682del (p.Leu559fs)
NM_000238.4(KCNH2):c.1681G>A (p.Ala561Thr) rs199472921
NM_000238.4(KCNH2):c.1682C>T (p.Ala561Val) rs121912504
NM_000238.4(KCNH2):c.1685A>G (p.His562Arg) rs199472922
NM_000238.4(KCNH2):c.1688G>A (p.Trp563Ter) rs1801175648
NM_000238.4(KCNH2):c.1689G>A (p.Trp563Ter) rs199473517
NM_000238.4(KCNH2):c.1695del (p.Cys566fs) rs1060500661
NM_000238.4(KCNH2):c.1701del (p.Trp568fs) rs794728440
NM_000238.4(KCNH2):c.1703G>A (p.Trp568Ter)
NM_000238.4(KCNH2):c.1707_1711dup (p.Ile571fs) rs2116962569
NM_000238.4(KCNH2):c.1714G>A (p.Gly572Ser) rs9333649
NM_000238.4(KCNH2):c.1714G>C (p.Gly572Arg) rs9333649
NM_000238.4(KCNH2):c.1720_1945+102del
NM_000238.4(KCNH2):c.172G>T (p.Glu58Ter)
NM_000238.4(KCNH2):c.1742C>A (p.Ser581Ter) rs794728483
NM_000238.4(KCNH2):c.1744C>T (p.Arg582Cys) rs121912508
NM_000238.4(KCNH2):c.1745_1746dup (p.Ile583fs) rs1801170310
NM_000238.4(KCNH2):c.1755G>C (p.Trp585Cys) rs199473430
NM_000238.4(KCNH2):c.1762_1765dup (p.Leu589fs)
NM_000238.4(KCNH2):c.1764C>A (p.Asn588Lys) rs104894021
NM_000238.4(KCNH2):c.1764C>G (p.Asn588Lys) rs104894021
NM_000238.4(KCNH2):c.1778T>A (p.Ile593Lys) rs28928904
NM_000238.4(KCNH2):c.1778T>G (p.Ile593Arg) rs28928904
NM_000238.4(KCNH2):c.1786C>G (p.Pro596Ala) rs863225288
NM_000238.4(KCNH2):c.1790A>G (p.Tyr597Cys) rs199472934
NM_000238.4(KCNH2):c.1801G>A (p.Gly601Ser) rs199472936
NM_000238.4(KCNH2):c.1810G>A (p.Gly604Ser) rs199473522
NM_000238.4(KCNH2):c.1814C>T (p.Pro605Leu) rs199472938
NM_000238.4(KCNH2):c.1819del (p.Ile607fs) rs2116960827
NM_000238.4(KCNH2):c.1825G>A (p.Asp609Asn) rs199472941
NM_000238.4(KCNH2):c.1825_1830del (p.Asp609_Lys610del) rs2116960605
NM_000238.4(KCNH2):c.1831T>C (p.Tyr611His) rs199472942
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.4(KCNH2):c.1848C>G (p.Tyr616Ter) rs1563156868
NM_000238.4(KCNH2):c.1853C>T (p.Thr618Ile) rs199472947
NM_000238.4(KCNH2):c.1877del (p.Gly626fs)
NM_000238.4(KCNH2):c.1879T>C (p.Phe627Leu) rs199472954
NM_000238.4(KCNH2):c.1881C>A (p.Phe627Leu) rs199473039
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.1884_1894delinsTGAAG (p.Asn629_Pro632delinsGluAla) rs1563156461
NM_000238.4(KCNH2):c.1886A>C (p.Asn629Thr) rs199472957
NM_000238.4(KCNH2):c.1886A>G (p.Asn629Ser) rs199472957
NM_000238.4(KCNH2):c.1898A>G (p.Asn633Ser) rs199472961
NM_000238.4(KCNH2):c.1909G>A (p.Glu637Lys) rs199472968
NM_000238.4(KCNH2):c.1909G>T (p.Glu637Ter) rs199472968
NM_000238.4(KCNH2):c.1920C>A (p.Phe640Leu) rs199472970
NM_000238.4(KCNH2):c.1921_1923del (p.Ser641del)
NM_000238.4(KCNH2):c.1922C>A (p.Ser641Tyr) rs199472971
NM_000238.4(KCNH2):c.1922C>T (p.Ser641Phe) rs199472971
NM_000238.4(KCNH2):c.1933A>C (p.Met645Leu) rs199472974
NM_000238.4(KCNH2):c.193A>C (p.Thr65Pro) rs121912511
NM_000238.4(KCNH2):c.1945+6T>C rs794728380
NM_000238.4(KCNH2):c.1946-1G>C rs794728375
NM_000238.4(KCNH2):c.1946-2A>C rs794728488
NM_000238.4(KCNH2):c.1955_1960delinsT (p.Tyr652fs)
NM_000238.4(KCNH2):c.1956T>A (p.Tyr652Ter) rs1137617
NM_000238.4(KCNH2):c.1956del (p.Met651_Tyr652insTer)
NM_000238.4(KCNH2):c.195_210dup (p.Gly71fs) rs2117062966
NM_000238.4(KCNH2):c.1966_1989del (p.Phe656_Ile663del) rs1801134712
NM_000238.4(KCNH2):c.1967del (p.Phe656fs) rs1801136696
NM_000238.4(KCNH2):c.1968_1969delinsTT (p.Gly657Cys) rs1801136288
NM_000238.4(KCNH2):c.1969G>A (p.Gly657Ser) rs199472978
NM_000238.4(KCNH2):c.1983del (p.Ile662fs) rs1584852351
NM_000238.4(KCNH2):c.198C>A (p.Cys66Ter) rs1801935667
NM_000238.4(KCNH2):c.2000dup (p.Tyr667Ter) rs1554425527
NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter) rs749211387
NM_000238.4(KCNH2):c.2017_2020del (p.Tyr673fs)
NM_000238.4(KCNH2):c.2026C>T (p.Gln676Ter) rs794728381
NM_000238.4(KCNH2):c.2038del (p.Val680fs) rs1554425498
NM_000238.4(KCNH2):c.2044del (p.Glu682fs) rs1584852174
NM_000238.4(KCNH2):c.2062C>T (p.Gln688Ter) rs1554425486
NM_000238.4(KCNH2):c.206T>C (p.Leu69Pro) rs199473665
NM_000238.4(KCNH2):c.2078T>C (p.Leu693Pro) rs199472983
NM_000238.4(KCNH2):c.2083C>T (p.Gln695Ter) rs1064794793
NM_000238.4(KCNH2):c.209A>G (p.His70Arg) rs199473419
NM_000238.4(KCNH2):c.2104C>T (p.Gln702Ter) rs794728382
NM_000238.4(KCNH2):c.2104del (p.Gln702fs)
NM_000238.4(KCNH2):c.2114G>A (p.Trp705Ter) rs2116954443
NM_000238.4(KCNH2):c.2115G>A (p.Trp705Ter) rs2116954409
NM_000238.4(KCNH2):c.2118_2121dup (p.Thr708fs) rs2116954362
NM_000238.4(KCNH2):c.211G>C (p.Gly71Arg) rs199473420
NM_000238.4(KCNH2):c.212G>A (p.Gly71Glu) rs886039183
NM_000238.4(KCNH2):c.2145G>A (p.Ala715=) rs794728384
NM_000238.4(KCNH2):c.2156dup (p.Phe720fs)
NM_000238.4(KCNH2):c.2159dup (p.Pro721_Glu722insTer)
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.4(KCNH2):c.2162_2163del (p.Pro721fs)
NM_000238.4(KCNH2):c.2180_2317del (p.Asp727_Ala772del) rs1554425226
NM_000238.4(KCNH2):c.220_233del (p.Thr74fs) rs2117062748
NM_000238.4(KCNH2):c.2218dup (p.Cys740fs) rs1554425284
NM_000238.4(KCNH2):c.221C>T (p.Thr74Met) rs199473422
NM_000238.4(KCNH2):c.221_242del (p.Thr74fs) rs1389503709
NM_000238.4(KCNH2):c.221_251del (p.Thr74fs) rs1554430908
NM_000238.4(KCNH2):c.2230C>T (p.Arg744Ter) rs189014161
NM_000238.4(KCNH2):c.2257del (p.Ala753fs) rs1584850710
NM_000238.4(KCNH2):c.2285_2286del (p.His762fs) rs1801088980
NM_000238.4(KCNH2):c.2289_2290dup (p.Pro764fs)
NM_000238.4(KCNH2):c.2304_2305dup (p.Leu769fs)
NM_000238.4(KCNH2):c.2320G>T (p.Asp774Tyr) rs199472995
NM_000238.4(KCNH2):c.232G>A (p.Ala78Thr) rs199472848
NM_000238.4(KCNH2):c.232_250del (p.Ala78fs) rs1584883087
NM_000238.4(KCNH2):c.234_241del (p.Ala79fs) rs886039045
NM_000238.4(KCNH2):c.234_250dup (p.Gln84fs) rs1584883087
NM_000238.4(KCNH2):c.2364_2365dup (p.Ile789fs) rs1060500662
NM_000238.4(KCNH2):c.2398+1G>C rs794728391
NM_000238.4(KCNH2):c.2398+2T>A rs1563152963
NM_000238.4(KCNH2):c.2398+5G>T rs1554425149
NM_000238.4(KCNH2):c.2399-28del rs2116941701
NM_000238.4(KCNH2):c.2436T>A (p.Tyr812Ter) rs1801032151
NM_000238.4(KCNH2):c.2442_2451del (p.Arg814fs) rs1554424849
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.2456del (p.Asn819fs) rs794728446
NM_000238.4(KCNH2):c.2464G>A (p.Val822Met) rs121912506
NM_000238.4(KCNH2):c.2470del (p.Ala824fs) rs1064793434
NM_000238.4(KCNH2):c.2509G>A (p.Asp837Asn) rs199473005
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly) rs199473004
NM_000238.4(KCNH2):c.2534_2541del (p.Tyr845fs)
NM_000238.4(KCNH2):c.2536_2537del (p.Tyr845_Pro846insTer) rs2116940397
NM_000238.4(KCNH2):c.2555del (p.Phe852fs) rs2116940243
NM_000238.4(KCNH2):c.2559G>A (p.Trp853Ter) rs2116940231
NM_000238.4(KCNH2):c.257T>G (p.Leu86Arg) rs199472851
NM_000238.4(KCNH2):c.2582A>T (p.Asn861Ile) rs121912513
NM_000238.4(KCNH2):c.2592+1G>A rs1554424772
NM_000238.4(KCNH2):c.2616dup (p.Gly873fs) rs1584847173
NM_000238.4(KCNH2):c.2626G>T (p.Glu876Ter) rs1554424688
NM_000238.4(KCNH2):c.2634_2643del (p.Gly879fs) rs1801008727
NM_000238.4(KCNH2):c.2648_2652dup (p.Arg885fs)
NM_000238.4(KCNH2):c.2653_2657del (p.Arg885fs) rs1801007403
NM_000238.4(KCNH2):c.2657dup (p.Arg887fs) rs1554424671
NM_000238.4(KCNH2):c.2675_2679dup (p.Arg894fs) rs1131692183
NM_000238.4(KCNH2):c.2676_2680dup (p.Arg894fs) rs2116937619
NM_000238.4(KCNH2):c.2677_2680dup (p.Arg894fs) rs1385959174
NM_000238.4(KCNH2):c.2682_2685dup (p.Asp896fs) rs2116937449
NM_000238.4(KCNH2):c.2684del (p.Thr895fs) rs2116937500
NM_000238.4(KCNH2):c.268G>T (p.Glu90Ter)
NM_000238.4(KCNH2):c.2690delinsCGACAC (p.Lys897fs) rs1584846819
NM_000238.4(KCNH2):c.2698dup (p.Glu900fs)
NM_000238.4(KCNH2):c.2705del (p.Pro902fs) rs1563148264
NM_000238.4(KCNH2):c.2724_2728dup (p.Pro910fs) rs794728449
NM_000238.4(KCNH2):c.2729_2744del (p.Pro910fs)
NM_000238.4(KCNH2):c.2731_2756dup (p.Ser919fs) rs2116933757
NM_000238.4(KCNH2):c.2734_2738del (p.Arg912fs) rs794728502
NM_000238.4(KCNH2):c.2743del (p.Ala915fs) rs2116933842
NM_000238.4(KCNH2):c.2748_2766del (p.Pro917fs)
NM_000238.4(KCNH2):c.2762del (p.Gly921fs) rs1584845263
NM_000238.4(KCNH2):c.2762dup (p.Arg922fs)
NM_000238.4(KCNH2):c.2763_2772del (p.Arg922fs) rs1554424390
NM_000238.4(KCNH2):c.2767_2770dup (p.Gly924fs) rs1800970116
NM_000238.4(KCNH2):c.2775del (p.Pro926fs) rs794728455
NM_000238.4(KCNH2):c.2775dup (p.Pro926fs) rs794728455
NM_000238.4(KCNH2):c.2777del (p.Pro926fs) rs794728456
NM_000238.4(KCNH2):c.2780G>A (p.Trp927Ter) rs794728399
NM_000238.4(KCNH2):c.2785del (p.Glu929fs) rs794728458
NM_000238.4(KCNH2):c.2785dup (p.Glu929fs) rs794728458
NM_000238.4(KCNH2):c.2840_2852del (p.Gly947fs)
NM_000238.4(KCNH2):c.2857del (p.Leu953fs) rs794728503
NM_000238.4(KCNH2):c.2892dup (p.Gly965fs) rs794728462
NM_000238.4(KCNH2):c.2894del (p.Gly965fs)
NM_000238.4(KCNH2):c.2900dup (p.Pro968fs) rs786204101
NM_000238.4(KCNH2):c.2906_3089dup (p.Gly989_Ala990insIleProGlyAspGlyArgAlaArgGluAspArgAlaTrpGlnArgTrpCysValTyrProAlaHisProAlaLeuLeuSerGlyCysArgArgLeuLeuArgSerValGlnHisPheGlnLeuLeuGlyGlyGlnSerGlyProProValProGlyAlaProSerMetProArgProHisProGlnProProGlnHisProProLeuGlnProValGlySerProTer)
NM_000238.4(KCNH2):c.2918del (p.Leu973fs) rs1800958758
NM_000238.4(KCNH2):c.2931C>A (p.Cys977Ter) rs761585108
NM_000238.4(KCNH2):c.2931_2932insCTGGAGGCCCTTCTCCAGCCCCAGGCCCCCCGGAGAGCCGCCGGGTGGGGAGCCCCTGATGGAGGACTGC (p.Glu978fs)
NM_000238.4(KCNH2):c.2931_2941dup (p.Ser981fs) rs2116931753
NM_000238.4(KCNH2):c.2935_2939del (p.Lys979fs) rs1131692327
NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs) rs748706373
NM_000238.4(KCNH2):c.2960del (p.Leu987fs) rs1800955789
NM_000238.4(KCNH2):c.2966-2_2967dup rs794728464
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly) rs121912515
NM_000238.4(KCNH2):c.3002G>A (p.Trp1001Ter) rs794728401
NM_000238.4(KCNH2):c.3003G>A (p.Trp1001Ter) rs121912509
NM_000238.4(KCNH2):c.3007del (p.Asp1003fs) rs1800946921
NM_000238.4(KCNH2):c.3007dup (p.Asp1003fs) rs1800946921
NM_000238.4(KCNH2):c.3017del (p.Gly1006fs) rs794728504
NM_000238.4(KCNH2):c.301A>G (p.Lys101Glu) rs199472856
NM_000238.4(KCNH2):c.3022C>T (p.Gln1008Ter)
NM_000238.4(KCNH2):c.3027C>G (p.Tyr1009Ter) rs1057520558
NM_000238.4(KCNH2):c.3039del (p.Arg1014fs) rs2116929916
NM_000238.4(KCNH2):c.3054del (p.Thr1019fs) rs1554424138
NM_000238.4(KCNH2):c.3060del (p.Ser1021fs) rs864622174
NM_000238.4(KCNH2):c.307+1del rs2117062104
NM_000238.4(KCNH2):c.307_307+1delinsTT rs1554430850
NM_000238.4(KCNH2):c.3086_3087dup (p.Pro1030fs) rs2116929283
NM_000238.4(KCNH2):c.3086_3099del (p.Ser1029fs) rs2116928923
NM_000238.4(KCNH2):c.3087_3096delinsGC (p.Ser1029fs) rs1554424085
NM_000238.4(KCNH2):c.3090_3093dup (p.Arg1032fs) rs1554424091
NM_000238.4(KCNH2):c.3090_3102del (p.Arg1032fs) rs1554424070
NM_000238.4(KCNH2):c.3092_3096dup (p.Arg1033fs) rs1554424083
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs) rs1800940404
NM_000238.4(KCNH2):c.3093_3106del (p.Pro1034fs) rs1554424063
NM_000238.4(KCNH2):c.3094_3095dup (p.Arg1033fs)
NM_000238.4(KCNH2):c.3094del (p.Arg1032fs) rs864622309
NM_000238.4(KCNH2):c.3096_3099del (p.Arg1033fs) rs794728467
NM_000238.4(KCNH2):c.3096_3099dup (p.Pro1034fs) rs794728467
NM_000238.4(KCNH2):c.3097_3098dup (p.Pro1034fs) rs1554424079
NM_000238.4(KCNH2):c.3097_3106dup (p.Gly1036fs) rs2116928723
NM_000238.4(KCNH2):c.3098_3101dup (p.Arg1035fs)
NM_000238.4(KCNH2):c.3099_3102dup (p.Arg1035fs) rs1584843078
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs) rs794728466
NM_000238.4(KCNH2):c.3099_3109dup (p.Asp1037fs) rs794728466
NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs) rs1554424044
NM_000238.4(KCNH2):c.3099del (p.Arg1035fs) rs1057517743
NM_000238.4(KCNH2):c.3099dup (p.Pro1034fs)
NM_000238.4(KCNH2):c.3100_3103dup (p.Arg1035fs)
NM_000238.4(KCNH2):c.3100_3106dup (p.Gly1036fs) rs1554424062
NM_000238.4(KCNH2):c.3101_3108del (p.Pro1034fs) rs2116928626
NM_000238.4(KCNH2):c.3103del (p.Arg1035fs) rs794728468
NM_000238.4(KCNH2):c.3103dup (p.Arg1035fs) rs794728468
NM_000238.4(KCNH2):c.3105_3109dup (p.Asp1037fs) rs2116928557
NM_000238.4(KCNH2):c.3105_3112dup (p.Val1038fs) rs794728470
NM_000238.4(KCNH2):c.3106_3107dup (p.Asp1037fs) rs794728469
NM_000238.4(KCNH2):c.3107del (p.Gly1036fs) rs794728469
NM_000238.4(KCNH2):c.3107dup (p.Asp1037fs) rs794728469
NM_000238.4(KCNH2):c.3108_3112dup (p.Val1038fs) rs1800936242
NM_000238.4(KCNH2):c.3108dup (p.Asp1037fs) rs1584843033
NM_000238.4(KCNH2):c.3167dup (p.Ser1057fs) rs1584842021
NM_000238.4(KCNH2):c.3172dup (p.Ala1058fs)
NM_000238.4(KCNH2):c.3193C>T (p.Gln1065Ter) rs1554423871
NM_000238.4(KCNH2):c.3194_3330+68del
NM_000238.4(KCNH2):c.31C>T (p.Gln11Ter) rs794728416
NM_000238.4(KCNH2):c.3202C>T (p.Gln1068Ter) rs1554423863
NM_000238.4(KCNH2):c.3208C>T (p.Gln1070Ter)
NM_000238.4(KCNH2):c.3225_3231del (p.Pro1076fs) rs1584841841
NM_000238.4(KCNH2):c.3245_3251dup (p.Gly1085fs)
NM_000238.4(KCNH2):c.3251dup (p.Pro1086fs) rs794728473
NM_000238.4(KCNH2):c.3255dup (p.Pro1086fs) rs1064795855
NM_000238.4(KCNH2):c.3277_3278del (p.Pro1093fs)
NM_000238.4(KCNH2):c.3281dup (p.Leu1095fs)
NM_000238.4(KCNH2):c.3370dup (p.Ala1124fs)
NM_000238.4(KCNH2):c.3458dup (p.His1153fs) rs2116917246
NM_000238.4(KCNH2):c.371T>G (p.Met124Arg) rs199472862
NM_000238.4(KCNH2):c.373_374insGTGG (p.Phe125fs) rs794728489
NM_000238.4(KCNH2):c.3G>A (p.Met1Ile) rs2117072816
NM_000238.4(KCNH2):c.402del (p.Lys135fs) rs1060500670
NM_000238.4(KCNH2):c.418del (p.Ser140fs) rs2117011793
NM_000238.4(KCNH2):c.422dup (p.Ala142fs) rs2117011733
NM_000238.4(KCNH2):c.453del (p.Thr152fs) rs761863251
NM_000238.4(KCNH2):c.453dup (p.Thr152fs) rs761863251
NM_000238.4(KCNH2):c.461G>A (p.Trp154Ter) rs1554428173
NM_000238.4(KCNH2):c.462G>A (p.Trp154Ter)
NM_000238.4(KCNH2):c.464del (p.Leu155fs) rs2117011246
NM_000238.4(KCNH2):c.46del (p.Asp16fs) rs1584885912
NM_000238.4(KCNH2):c.470del (p.Pro157fs) rs1554428170
NM_000238.4(KCNH2):c.486del (p.Phe163fs)
NM_000238.4(KCNH2):c.507dup (p.Leu170fs) rs1801462423
NM_000238.4(KCNH2):c.512_536del (p.Leu171fs) rs1554427943
NM_000238.4(KCNH2):c.529G>T (p.Glu177Ter)
NM_000238.4(KCNH2):c.544_551dup (p.Ala185fs) rs1554427931
NM_000238.4(KCNH2):c.544_556del (p.Ser182fs) rs2117006599
NM_000238.4(KCNH2):c.545C>A (p.Ser182Ter) rs1057517742
NM_000238.4(KCNH2):c.548_560del (p.Gly183fs)
NM_000238.4(KCNH2):c.553_560del (p.Ala185fs)
NM_000238.4(KCNH2):c.565_568del (p.Gly189fs) rs794728420
NM_000238.4(KCNH2):c.572del (p.Pro191fs) rs794728423
NM_000238.4(KCNH2):c.659del (p.Asn220fs)
NM_000238.4(KCNH2):c.668_671del (p.Ala223fs)
NM_000238.4(KCNH2):c.669del (p.Leu225fs) rs2117005326
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_000238.4(KCNH2):c.678del (p.Ala228fs) rs794728496
NM_000238.4(KCNH2):c.685G>T (p.Glu229Ter) rs730880116
NM_000238.4(KCNH2):c.688G>T (p.Glu230Ter)
NM_000238.4(KCNH2):c.707_708del (p.Gly236fs) rs1801449253
NM_000238.4(KCNH2):c.735_754dup (p.Arg252fs) rs794728425
NM_000238.4(KCNH2):c.757dup (p.Ala253fs)
NM_000238.4(KCNH2):c.767dup (p.Asn257fs)
NM_000238.4(KCNH2):c.769_854delinsGAGCCCGAGGCGT (p.Asn257fs)
NM_000238.4(KCNH2):c.774_780del (p.Asp259fs) rs1801444435
NM_000238.4(KCNH2):c.805del (p.Arg269fs) rs2117003707
NM_000238.4(KCNH2):c.809_821del (p.Thr270fs) rs2117003430
NM_000238.4(KCNH2):c.812_813del (p.Arg271fs) rs1801442718
NM_000238.4(KCNH2):c.817C>T (p.Arg273Ter) rs552583527
NM_000238.4(KCNH2):c.81dup (p.Lys28Ter) rs794728475
NM_000238.4(KCNH2):c.826del (p.Cys276fs) rs794728422
NM_000238.4(KCNH2):c.82A>G (p.Lys28Glu) rs199472829
NM_000238.4(KCNH2):c.835del (p.Val279fs)
NM_000238.4(KCNH2):c.84del (p.Lys28fs) rs1584883517
NM_000238.4(KCNH2):c.850_868del (p.Ser284fs) rs794728427
NM_000238.4(KCNH2):c.87C>A (p.Phe29Leu) rs199472830
NM_000238.4(KCNH2):c.885del (p.Leu296fs) rs794728429
NM_000238.4(KCNH2):c.893del (p.Pro298fs) rs1563169382
NM_000238.4(KCNH2):c.904del (p.His302fs) rs1801437299
NM_000238.4(KCNH2):c.906_910dup (p.Ser304fs) rs1554427596
NM_000238.4(KCNH2):c.916G>C (p.Gly306Arg) rs199472884
NM_000238.4(KCNH2):c.955_956del (p.Thr319fs) rs2116998812
NM_000238.4(KCNH2):c.95C>T (p.Ala32Val) rs1801941580
NM_000238.4(KCNH2):c.978del (p.Tyr327fs)
NM_000238.4(KCNH2):c.991del (p.Ser331fs)
NM_000243.3(MEFV):c.332G>A (p.Gly111Glu) rs751454741
NM_000256.3(MYBPC3):c.(2148+1_2149-1)_(2737+1_2738-1)del
NM_000256.3(MYBPC3):c.(?_2906)_(3627_?)del
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) rs573916965
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) rs730880631
NM_000256.3(MYBPC3):c.1020del (p.Gln339_Tyr340insTer)
NM_000256.3(MYBPC3):c.1028del (p.Thr343fs) rs730880686
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs) rs730880336
NM_000256.3(MYBPC3):c.1048_1049del (p.Lys350fs) rs2142864164
NM_000256.3(MYBPC3):c.1058del (p.Lys353fs)
NM_000256.3(MYBPC3):c.1075G>T (p.Glu359Ter) rs876657702
NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs) rs730880723
NM_000256.3(MYBPC3):c.1090+1G>A rs727504269
NM_000256.3(MYBPC3):c.1090+1G>C
NM_000256.3(MYBPC3):c.1090+1G>T rs727504269
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1091-?_2308+?del
NM_000256.3(MYBPC3):c.1096C>T (p.Gln366Ter)
NM_000256.3(MYBPC3):c.1116dup (p.Tyr373fs)
NM_000256.3(MYBPC3):c.1119C>G (p.Tyr373Ter) rs2095891411
NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter) rs730880635
NM_000256.3(MYBPC3):c.1128del (p.Ser376fs) rs2095891398
NM_000256.3(MYBPC3):c.112_115del (p.Val38fs) rs2142869736
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) rs869025465
NM_000256.3(MYBPC3):c.1156G>T (p.Glu386Ter) rs397515888
NM_000256.3(MYBPC3):c.1156_1171dup (p.Asp391delinsGlyThrGlyTer) rs730880689
NM_000256.3(MYBPC3):c.1162dup (p.Ala388fs) rs730880724
NM_000256.3(MYBPC3):c.1168del (p.His390fs) rs397515889
NM_000256.3(MYBPC3):c.1174del (p.Ala392fs) rs1565628486
NM_000256.3(MYBPC3):c.1183A>T (p.Lys395Ter) rs1233894123
NM_000256.3(MYBPC3):c.1194del (p.Asn399fs) rs2142862199
NM_000256.3(MYBPC3):c.1210C>T (p.Gln404Ter) rs727504329
NM_000256.3(MYBPC3):c.1223+1G>T rs730880639
NM_000256.3(MYBPC3):c.1223+2T>C rs730880641
NM_000256.3(MYBPC3):c.1223+2T>G rs730880641
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1227-1G>C rs113276889
NM_000256.3(MYBPC3):c.1235_1236del (p.Ile411_Phe412insTer) rs397515894
NM_000256.3(MYBPC3):c.1236dup (p.Glu413Ter) rs397515894
NM_000256.3(MYBPC3):c.124_127del (p.Trp42fs) rs730880659
NM_000256.3(MYBPC3):c.1266_1267insTGAT (p.Ile423Ter)
NM_000256.3(MYBPC3):c.1269_1282del (p.Ser424fs) rs2142861729
NM_000256.3(MYBPC3):c.1273C>T (p.Gln425Ter) rs397515895
NM_000256.3(MYBPC3):c.1277_1298del (p.Cys426fs)
NM_000256.3(MYBPC3):c.1278C>A (p.Cys426Ter) rs746770543
NM_000256.3(MYBPC3):c.1302C>A (p.Tyr434Ter) rs190228518
NM_000256.3(MYBPC3):c.1302C>G (p.Tyr434Ter)
NM_000256.3(MYBPC3):c.1303C>T (p.Gln435Ter) rs1432810664
NM_000256.3(MYBPC3):c.1310del (p.Val437fs) rs397515896
NM_000256.3(MYBPC3):c.1319_1328del (p.Gly440fs) rs1595846475
NM_000256.3(MYBPC3):c.1330del (p.Ser444fs) rs727505152
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
NM_000256.3(MYBPC3):c.1351G>C (p.Glu451Gln) rs786204338
NM_000256.3(MYBPC3):c.1351G>T (p.Glu451Ter) rs786204338
NM_000256.3(MYBPC3):c.1353del (p.Glu451fs) rs2142861512
NM_000256.3(MYBPC3):c.1357_1358del (p.Pro453fs) rs727503203
NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) rs727503203
NM_000256.3(MYBPC3):c.1359del (p.Val454fs) rs863225271
NM_000256.3(MYBPC3):c.1364_1374del (p.Leu455fs) rs2142861454
NM_000256.3(MYBPC3):c.1364del (p.Leu455fs)
NM_000256.3(MYBPC3):c.1367del (p.Ile456fs) rs1595846398
NM_000256.3(MYBPC3):c.1377del (p.Leu460fs) rs786204339
NM_000256.3(MYBPC3):c.1378_1379dup (p.Leu460fs)
NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter) rs730880538
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs) rs886037900
NM_000256.3(MYBPC3):c.1408C>T (p.Arg470Trp) rs1595846365
NM_000256.3(MYBPC3):c.1420G>T (p.Glu474Ter) rs1415753419
NM_000256.3(MYBPC3):c.1422del (p.Glu474fs) rs1565628062
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs) rs1595846344
NM_000256.3(MYBPC3):c.1444dup (p.Ala482fs) rs876657703
NM_000256.3(MYBPC3):c.1447C>T (p.Gln483Ter) rs730880541
NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter) rs730880542
NM_000256.3(MYBPC3):c.1458-1G>A rs397515903
NM_000256.3(MYBPC3):c.1458-1G>T rs397515903
NM_000256.3(MYBPC3):c.1460_1624+67del
NM_000256.3(MYBPC3):c.1469G>T (p.Gly490Val) rs397514752
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1504del (p.Arg502fs) rs1555122188
NM_000256.3(MYBPC3):c.1518_1519del (p.Asp506fs) rs2095889992
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) rs730880544
NM_000256.3(MYBPC3):c.1546G>T (p.Glu516Ter) rs730880545
NM_000256.3(MYBPC3):c.1569del (p.His524fs) rs2095889902
NM_000256.3(MYBPC3):c.1570_1594del (p.His524fs) rs1555122156
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.1575T>A (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1575_1588del (p.Tyr525_Ser530delinsTer)
NM_000256.3(MYBPC3):c.1595del (p.Gly532fs) rs730880640
NM_000256.3(MYBPC3):c.1609G>T (p.Glu537Ter) rs2142860830
NM_000256.3(MYBPC3):c.1615_1616insCCTCA (p.Ile539fs) rs2095889815
NM_000256.3(MYBPC3):c.1624+1G>A rs1252584025
NM_000256.3(MYBPC3):c.1624+1G>C rs1252584025
NM_000256.3(MYBPC3):c.1624+1G>T rs1252584025
NM_000256.3(MYBPC3):c.1624+2T>C rs111437311
NM_000256.3(MYBPC3):c.1624G>T (p.Glu542Ter) rs121909374
NM_000256.3(MYBPC3):c.1625-2A>C
NM_000256.3(MYBPC3):c.1628del (p.Lys543fs) rs727504248
NM_000256.3(MYBPC3):c.162del (p.Lys54fs) rs864622224
NM_000256.3(MYBPC3):c.1633_1640del (p.Leu545fs) rs878853831
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1644C>G (p.Tyr548Ter) rs1565627615
NM_000256.3(MYBPC3):c.1645C>T (p.Gln549Ter) rs2142860329
NM_000256.3(MYBPC3):c.165C>G (p.Tyr55Ter)
NM_000256.3(MYBPC3):c.1666del (p.Val556fs)
NM_000256.3(MYBPC3):c.1678del (p.Asp560fs) rs727504366
NM_000256.3(MYBPC3):c.1693A>T (p.Lys565Ter) rs397515920
NM_000256.3(MYBPC3):c.1699G>T (p.Glu567Ter)
NM_000256.3(MYBPC3):c.1700_1701del (p.Glu567fs) rs727503197
NM_000256.3(MYBPC3):c.1724del (p.Gly575fs)
NM_000256.3(MYBPC3):c.1729_1730del (p.Trp577fs) rs1565627536
NM_000256.3(MYBPC3):c.1730G>A (p.Trp577Ter) rs2095889156
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) rs730880546
NM_000256.3(MYBPC3):c.1734del (p.Lys579fs) rs730880646
NM_000256.3(MYBPC3):c.1755del (p.Asp587fs) rs1595845888
NM_000256.3(MYBPC3):c.175A>G (p.Thr59Ala) rs121909375
NM_000256.3(MYBPC3):c.1775dup (p.Ser593fs)
NM_000256.3(MYBPC3):c.1776_1777del (p.Ser593fs) rs730880713
NM_000256.3(MYBPC3):c.1777del (p.Ser593fs)
NM_000256.3(MYBPC3):c.177_187del (p.Glu60fs) rs397515925
NM_000256.3(MYBPC3):c.178G>T (p.Glu60Ter) rs1410935154
NM_000256.3(MYBPC3):c.1790+1G>A rs1555122053
NM_000256.3(MYBPC3):c.1790+1G>C
NM_000256.3(MYBPC3):c.1792delG rs730880647
NM_000256.3(MYBPC3):c.1800del (p.Lys600fs) rs397515926
NM_000256.3(MYBPC3):c.1808_1821del (p.Ile603fs)
NM_000256.3(MYBPC3):c.1816_1842del (p.Val606_Tyr614del) rs1595845565
NM_000256.3(MYBPC3):c.1821_1822del (p.Pro608fs) rs2142859359
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.1828del (p.Asp610fs)
NM_000256.3(MYBPC3):c.182del (p.Gly61fs) rs730880663
NM_000256.3(MYBPC3):c.1831G>T (p.Glu611Ter) rs730880555
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs) rs730880649
NM_000256.3(MYBPC3):c.1839del (p.Tyr614fs) rs2142859289
NM_000256.3(MYBPC3):c.1842del (p.Asp613_Tyr614insTer)
NM_000256.3(MYBPC3):c.1863del (p.Phe621fs) rs397515931
NM_000256.3(MYBPC3):c.1869C>A (p.Cys623Ter) rs397515932
NM_000256.3(MYBPC3):c.1890del (p.Phe631fs) rs1565627110
NM_000256.3(MYBPC3):c.1892del (p.Phe631fs) rs397515933
NM_000256.3(MYBPC3):c.1895del (p.Met632fs) rs397515934
NM_000256.3(MYBPC3):c.1897+1G>A rs397515935
NM_000256.3(MYBPC3):c.1898-1G>A rs730880558
NM_000256.3(MYBPC3):c.1900del (p.Val634fs) rs2142859074
NM_000256.3(MYBPC3):c.1903A>T (p.Lys635Ter) rs2142859071
NM_000256.3(MYBPC3):c.1922_1923del (p.Arg641fs) rs2095887873
NM_000256.3(MYBPC3):c.1924C>T (p.Gln642Ter) rs727504293
NM_000256.3(MYBPC3):c.1927+600C>T rs1595845204
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.1950del (p.Cys651fs)
NM_000256.3(MYBPC3):c.1953C>A (p.Cys651Ter) rs936188645
NM_000256.3(MYBPC3):c.1960dup (p.Arg654fs)
NM_000256.3(MYBPC3):c.1999_2000delinsG (p.Leu667fs) rs727503192
NM_000256.3(MYBPC3):c.2003dup (p.Leu669fs) rs1565626409
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs) rs397515943
NM_000256.3(MYBPC3):c.2040dup (p.Val681fs) rs397515944
NM_000256.3(MYBPC3):c.2047del (p.Trp683fs)
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter) rs397515942
NM_000256.3(MYBPC3):c.2063del (p.Thr688fs)
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) rs863224483
NM_000256.3(MYBPC3):c.2067+1G>A rs1444727212
NM_000256.3(MYBPC3):c.2071_2072del (p.Gly690_Asn691insTer) rs2142857362
NM_000256.3(MYBPC3):c.2096del (p.Pro699fs) rs397515947
NM_000256.3(MYBPC3):c.2113dup (p.Thr705fs) rs397515948
NM_000256.3(MYBPC3):c.2130del (p.Glu710fs)
NM_000256.3(MYBPC3):c.2132G>A (p.Trp711Ter) rs2095885868
NM_000256.3(MYBPC3):c.2149-1G>A rs727504334
NM_000256.3(MYBPC3):c.2149-1G>T rs727504334
NM_000256.3(MYBPC3):c.2149-2del rs1555121488
NM_000256.3(MYBPC3):c.214_215dup (p.Pro73fs) rs730880362
NM_000256.3(MYBPC3):c.2163del (p.Glu722fs) rs397515952
NM_000256.3(MYBPC3):c.2164G>T (p.Glu722Ter) rs730880696
NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter) rs397515954
NM_000256.3(MYBPC3):c.218del (p.Pro73fs)
NM_000256.3(MYBPC3):c.2195del (p.Asp732fs)
NM_000256.3(MYBPC3):c.221C>TT rs1555123743
NM_000256.3(MYBPC3):c.2221dup (p.Ala741fs) rs730880650
NM_000256.3(MYBPC3):c.2230_2233del (p.Glu744fs)
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly) rs727503190
NM_000256.3(MYBPC3):c.2236G>T (p.Glu746Ter)
NM_000256.3(MYBPC3):c.223dup (p.Asp75fs) rs2095900669
NM_000256.3(MYBPC3):c.2240_2245delinsCCTTC (p.Gly747fs) rs2095884984
NM_000256.3(MYBPC3):c.2265C>A (p.Asn755Lys) rs1060501474
NM_000256.3(MYBPC3):c.2267del (p.Pro756fs) rs730880651
NM_000256.3(MYBPC3):c.226C>T (p.Gln76Ter)
NM_000256.3(MYBPC3):c.2279del (p.Asp760fs) rs1060501478
NM_000256.3(MYBPC3):c.2281del (p.Gln761fs)
NM_000256.3(MYBPC3):c.2285T>A (p.Val762Asp) rs1595844241
NM_000256.3(MYBPC3):c.229G>T (p.Gly77Ter) rs869025459
NM_000256.3(MYBPC3):c.2306_2309dup (p.Val771fs) rs1565625777
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2308+1G>T rs112738974
NM_000256.3(MYBPC3):c.2309-26A>G rs886041030
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs) rs397515960
NM_000256.3(MYBPC3):c.2334del (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.2334dup (p.Lys779fs) rs1057518030
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter) rs863225112
NM_000256.3(MYBPC3):c.2377dup (p.Glu793fs) rs1565625473
NM_000256.3(MYBPC3):c.237C>A (p.Tyr79Ter) rs730880698
NM_000256.3(MYBPC3):c.237C>G (p.Tyr79Ter) rs730880698
NM_000256.3(MYBPC3):c.237del (p.Ser78_Tyr79insTer) rs730880664
NM_000256.3(MYBPC3):c.2382del (p.Pro795fs) rs730880714
NM_000256.3(MYBPC3):c.2391C>A (p.Tyr797Ter) rs727504864
NM_000256.3(MYBPC3):c.2394dup (p.Gly799fs) rs730880341
NM_000256.3(MYBPC3):c.2413+1G>A rs1595843828
NM_000256.3(MYBPC3):c.2416dup (p.Tyr806fs)
NM_000256.3(MYBPC3):c.2436_2437delinsTT (p.Lys812_Lys813delinsAsnTer)
NM_000256.3(MYBPC3):c.2437A>T (p.Lys813Ter) rs727504252
NM_000256.3(MYBPC3):c.2438del (p.Lys813fs) rs1595843758
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter) rs1419032418
NM_000256.3(MYBPC3):c.2454G>A (p.Trp818Ter) rs397515965
NM_000256.3(MYBPC3):c.2455_2459del (p.Met819fs) rs730880652
NM_000256.3(MYBPC3):c.2458C>T (p.Arg820Trp) rs775404728
NM_000256.3(MYBPC3):c.2460del (p.Arg820_Leu821insTer)
NM_000256.3(MYBPC3):c.2469del (p.Phe823fs)
NM_000256.3(MYBPC3):c.2494G>T (p.Glu832Ter) rs2142855351
NM_000256.3(MYBPC3):c.25+1G>A rs113709679
NM_000256.3(MYBPC3):c.25+1G>C
NM_000256.3(MYBPC3):c.2500_2501del (p.Arg834fs)
NM_000256.3(MYBPC3):c.2504del (p.Arg835fs) rs876657704
NM_000256.3(MYBPC3):c.2510_2513del (p.Ile837fs) rs2095883508
NM_000256.3(MYBPC3):c.2511del (p.Ile837fs) rs730880653
NM_000256.3(MYBPC3):c.2512G>T (p.Glu838Ter) rs397515969
NM_000256.3(MYBPC3):c.2512dup (p.Glu838fs) rs1219930764
NM_000256.3(MYBPC3):c.2517_2538del (p.Val840fs) rs727503187
NM_000256.3(MYBPC3):c.2524dup (p.Tyr842fs) rs397515970
NM_000256.3(MYBPC3):c.2526C>A (p.Tyr842Ter) rs373792537
NM_000256.3(MYBPC3):c.2526C>G (p.Tyr842Ter) rs373792537
NM_000256.3(MYBPC3):c.2526del (p.Val841_Tyr842insTer) rs1595843640
NM_000256.3(MYBPC3):c.252_262del (p.Ser85fs) rs2095900581
NM_000256.3(MYBPC3):c.2532_2538del (p.Met844fs) rs730880654
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs) rs397515973
NM_000256.3(MYBPC3):c.2541C>A (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2543_2544dup (p.Val849fs) rs1595843598
NM_000256.3(MYBPC3):c.2543del (p.Ala848fs) rs730880715
NM_000256.3(MYBPC3):c.2545_2550delinsTCAT (p.Val849fs)
NM_000256.3(MYBPC3):c.2550del (p.Asn850fs) rs863225105
NM_000256.3(MYBPC3):c.2555dup (p.Gly853fs)
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs) rs397515975
NM_000256.3(MYBPC3):c.2556del (p.Ile852fs) rs727503186
NM_000256.3(MYBPC3):c.2558del (p.Gly853fs) rs397515977
NM_000256.3(MYBPC3):c.2560_2570del (p.Met854fs) rs2095883336
NM_000256.3(MYBPC3):c.2568del (p.Arg856fs) rs1555121172
NM_000256.3(MYBPC3):c.256del (p.Ser86fs)
NM_000256.3(MYBPC3):c.2572_2573insAA (p.Ser858fs) rs1060501481
NM_000256.3(MYBPC3):c.2572_2576dup (p.Ser861fs) rs1595843549
NM_000256.3(MYBPC3):c.2578_2590dup (p.Phe864fs) rs2142855105
NM_000256.3(MYBPC3):c.257_259delinsGGAGG (p.Ser86fs) rs1064792936
NM_000256.3(MYBPC3):c.2584C>T (p.Gln862Ter)
NM_000256.3(MYBPC3):c.2604_2605delinsA (p.Ser871fs) rs727504371
NM_000256.3(MYBPC3):c.2604_2607del (p.Pro870fs)
NM_000256.3(MYBPC3):c.2604del (p.Ser871fs) rs730880655
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2610dup (p.Ser871fs) rs397515979
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.2639_2642dup (p.Ser882fs)
NM_000256.3(MYBPC3):c.2645_2646del (p.Val881_Ser882insTer)
NM_000256.3(MYBPC3):c.2648_2673dup (p.Pro892fs) rs1555120937
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2678del (p.Pro893fs)
NM_000256.3(MYBPC3):c.2709_2719del (p.Tyr904fs) rs730880657
NM_000256.3(MYBPC3):c.2719G>T (p.Glu907Ter) rs1555120920
NM_000256.3(MYBPC3):c.2727C>A (p.Cys909Ter) rs886038822
NM_000256.3(MYBPC3):c.2729del (p.Pro910fs)
NM_000256.3(MYBPC3):c.2737+1G>A rs727504314
NM_000256.3(MYBPC3):c.2737+1G>C rs727504314
NM_000256.3(MYBPC3):c.2737+2T>A rs727503184
NM_000256.3(MYBPC3):c.2738-2A>G
NM_000256.3(MYBPC3):c.2739del (p.Ser914fs) rs730880660
NM_000256.3(MYBPC3):c.2747G>A (p.Trp916Ter) rs727504349
NM_000256.3(MYBPC3):c.2748G>A (p.Trp916Ter) rs730880576
NM_000256.3(MYBPC3):c.275_276del (p.Leu92fs) rs1057517766
NM_000256.3(MYBPC3):c.2761C>T (p.Gln921Ter) rs367729718
NM_000256.3(MYBPC3):c.2766del (p.Gly922_Leu923insTer) rs1565624196
NM_000256.3(MYBPC3):c.2767del (p.Gly922_Leu923insTer) rs2142853009
NM_000256.3(MYBPC3):c.2770_2857dup (p.Gly953fs)
NM_000256.3(MYBPC3):c.2774_2775del (p.Glu925fs)
NM_000256.3(MYBPC3):c.2778_2781dup (p.Ser928fs)
NM_000256.3(MYBPC3):c.2780_2781del (p.Thr927fs) rs727504265
NM_000256.3(MYBPC3):c.2789del (p.Leu930fs) rs876657705
NM_000256.3(MYBPC3):c.2801dup (p.Pro935fs)
NM_000256.3(MYBPC3):c.2806_2807del (p.Thr936fs)
NM_000256.3(MYBPC3):c.2812del (p.Ala938fs) rs2142852944
NM_000256.3(MYBPC3):c.2825_2826delinsAA (p.Phe942Ter)
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000256.3(MYBPC3):c.2843A>C (p.Asn948Thr) rs121909376
NM_000256.3(MYBPC3):c.2846dup (p.Met949fs) rs786204352
NM_000256.3(MYBPC3):c.2857_2858insCAGGGGCTGACAGAGCACACATCGATACTGGTGAAGGACCTGCCCACGGGGGCCCGGCTGCTTTTCCGAGTGCGGGCACACAATATGGCAGGGCCTGG (p.Gly953fs) rs2142852868
NM_000256.3(MYBPC3):c.2868dup (p.Thr957fs) rs1565624090
NM_000256.3(MYBPC3):c.2875_2876del (p.Thr959fs) rs727503182
NM_000256.3(MYBPC3):c.2893C>T (p.Gln965Ter) rs730880578
NM_000256.3(MYBPC3):c.2894_2905+4del rs730880717
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2905+1G>C rs397515991
NM_000256.3(MYBPC3):c.2905+1_3628-1del
NM_000256.3(MYBPC3):c.2905+2T>A rs2095880858
NM_000256.3(MYBPC3):c.2905+2T>C
NM_000256.3(MYBPC3):c.2905+445_2905+448del rs1595842238
NM_000256.3(MYBPC3):c.2905C>T (p.Gln969Ter) rs397515992
NM_000256.3(MYBPC3):c.2906-2A>G rs727504333
NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter) rs727503180
NM_000256.3(MYBPC3):c.292G>T (p.Glu98Ter) rs868819340
NM_000256.3(MYBPC3):c.2936_2939del (p.Leu979fs)
NM_000256.3(MYBPC3):c.2943_2947del (p.Gln981fs) rs397515995
NM_000256.3(MYBPC3):c.2948_2951del (p.Ile983fs)
NM_000256.3(MYBPC3):c.2950C>T (p.Gln984Ter) rs1555120651
NM_000256.3(MYBPC3):c.2953A>T (p.Lys985Ter) rs727504423
NM_000256.3(MYBPC3):c.2965G>T (p.Glu989Ter) rs727503178
NM_000256.3(MYBPC3):c.2980del (p.Leu994fs) rs2142851880
NM_000256.3(MYBPC3):c.2981del (p.Leu994fs)
NM_000256.3(MYBPC3):c.298dup (p.Ala100fs)
NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter) rs11570112
NM_000256.3(MYBPC3):c.2994+2T>C rs727503176
NM_000256.3(MYBPC3):c.2995-1G>A rs730880584
NM_000256.3(MYBPC3):c.299_308del (p.Ala100fs) rs1565631430
NM_000256.3(MYBPC3):c.3004_3005del (p.Arg1002fs)
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs) rs2095879705
NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter) rs730880586
NM_000256.3(MYBPC3):c.3040del (p.Leu1014fs) rs397515997
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs) rs869025468
NM_000256.3(MYBPC3):c.305_308dup (p.Met103fs) rs1555123633
NM_000256.3(MYBPC3):c.3068dup (p.Asn1023fs) rs397516001
NM_000256.3(MYBPC3):c.3079G>AA rs730880666
NM_000256.3(MYBPC3):c.3089_3101del (p.Leu1030fs) rs727503175
NM_000256.3(MYBPC3):c.309_321dup (p.Pro108fs) rs2095899755
NM_000256.3(MYBPC3):c.3100del (p.Ala1034fs) rs1060501475
NM_000256.3(MYBPC3):c.310del (p.Leu104fs) rs1565631428
NM_000256.3(MYBPC3):c.3124_3125insAA (p.Thr1042fs) rs1064793202
NM_000256.3(MYBPC3):c.3124del (p.Thr1042fs) rs2142851443
NM_000256.3(MYBPC3):c.3127dup (p.Tyr1043fs)
NM_000256.3(MYBPC3):c.3129C>A (p.Tyr1043Ter) rs573821685
NM_000256.3(MYBPC3):c.3129C>G (p.Tyr1043Ter) rs573821685
NM_000256.3(MYBPC3):c.313_334dup (p.Glu112delinsGlyProCysProCysProCysTer)
NM_000256.3(MYBPC3):c.313del (p.Ala105fs) rs1565631424
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter) rs869025461
NM_000256.3(MYBPC3):c.3166dup (p.Ala1056fs) rs727503174
NM_000256.3(MYBPC3):c.317del (p.Pro106fs) rs1555123629
NM_000256.3(MYBPC3):c.3182_3190+4del rs730880718
NM_000256.3(MYBPC3):c.318del (p.Ala107fs) rs2142868794
NM_000256.3(MYBPC3):c.3190+1del rs2142851321
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs) rs397516007
NM_000256.3(MYBPC3):c.3208C>T (p.Gln1070Ter)
NM_000256.3(MYBPC3):c.3211del (p.Asp1071fs)
NM_000256.3(MYBPC3):c.3215_3216insG (p.Arg1073fs) rs2142851045
NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs) rs730880668
NM_000256.3(MYBPC3):c.3228_3229insT (p.Ala1077fs) rs1555120529
NM_000256.3(MYBPC3):c.3231dup (p.Trp1078fs) rs2142850980
NM_000256.3(MYBPC3):c.3233G>A (p.Trp1078Ter) rs397516006
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter) rs866966651
NM_000256.3(MYBPC3):c.3242dup (p.Asn1081fs)
NM_000256.3(MYBPC3):c.324del (p.Ala109fs) rs730880721
NM_000256.3(MYBPC3):c.3257G>A (p.Trp1086Ter) rs779650200
NM_000256.3(MYBPC3):c.3258G>A (p.Trp1086Ter) rs1595841552
NM_000256.3(MYBPC3):c.3288del (p.Glu1096fs) rs727503172
NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter) rs397516013
NM_000256.3(MYBPC3):c.3294G>A (p.Trp1098Ter) rs767039057
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs) rs397516014
NM_000256.3(MYBPC3):c.329del (p.Pro110fs)
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter) rs863225113
NM_000256.3(MYBPC3):c.3302_3303del (p.Thr1101fs) rs730880671
NM_000256.3(MYBPC3):c.3302_3308del (p.Thr1101fs) rs2142850807
NM_000256.3(MYBPC3):c.3303_3304del (p.Val1102fs)
NM_000256.3(MYBPC3):c.3309_3328del (p.Gln1103fs) rs2142850741
NM_000256.3(MYBPC3):c.3313_3314insGG (p.Ala1105fs) rs2142850797
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs) rs730880672
NM_000256.3(MYBPC3):c.3324_3325del (p.Lys1108fs) rs1060499673
NM_000256.3(MYBPC3):c.3327del (p.Met1110fs) rs730880719
NM_000256.3(MYBPC3):c.3328del (p.Met1110fs) rs2142850736
NM_000256.3(MYBPC3):c.332_335dup (p.Glu112delinsAspTer) rs886037901
NM_000256.3(MYBPC3):c.3330+1G>T rs1298025872
NM_000256.3(MYBPC3):c.3330+2T>C rs387906397
NM_000256.3(MYBPC3):c.3330+5G>A rs373746463
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3331-1G>A rs727504305
NM_000256.3(MYBPC3):c.3332_3335dup (p.Trp1112Ter) rs730880337
NM_000256.3(MYBPC3):c.3335G>A (p.Trp1112Ter) rs727504276
NM_000256.3(MYBPC3):c.333dup (p.Glu112Ter) rs730880335
NM_000256.3(MYBPC3):c.3357C>A (p.Tyr1119Ter) rs1565622952
NM_000256.3(MYBPC3):c.3357C>G (p.Tyr1119Ter) rs1565622952
NM_000256.3(MYBPC3):c.3359dup (p.Arg1121fs)
NM_000256.3(MYBPC3):c.3372C>A (p.Cys1124Ter) rs727504289
NM_000256.3(MYBPC3):c.3382_3388del (p.Glu1128fs)
NM_000256.3(MYBPC3):c.3402del (p.Tyr1135fs)
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3408C>G (p.Tyr1136Ter) rs193922383
NM_000256.3(MYBPC3):c.3424C>T (p.Gln1142Ter) rs2142850286
NM_000256.3(MYBPC3):c.3440_3441del (p.Gly1146_Phe1147insTer)
NM_000256.3(MYBPC3):c.3460delinsCT (p.Thr1154fs)
NM_000256.3(MYBPC3):c.3466G>T (p.Glu1156Ter)
NM_000256.3(MYBPC3):c.3466del (p.Glu1156fs)
NM_000256.3(MYBPC3):c.3467dup (p.Pro1157fs) rs730880720
NM_000256.3(MYBPC3):c.3471dup (p.Val1158fs)
NM_000256.3(MYBPC3):c.3472_3481del (p.Val1158fs) rs730880675
NM_000256.3(MYBPC3):c.3476_3477del (p.Phe1159fs) rs727504321
NM_000256.3(MYBPC3):c.3476_3477insATTT (p.Phe1159fs) rs1595841206
NM_000256.3(MYBPC3):c.3476_3479dup (p.Pro1161fs) rs397516019
NM_000256.3(MYBPC3):c.3490+1G>A rs397516020
NM_000256.3(MYBPC3):c.350del (p.Pro117fs) rs397516023
NM_000256.3(MYBPC3):c.3512del (p.Asn1171fs) rs876657706
NM_000256.3(MYBPC3):c.3523dup (p.Leu1175fs)
NM_000256.3(MYBPC3):c.3553C>T (p.Gln1185Ter) rs730880699
NM_000256.3(MYBPC3):c.3559del (p.Leu1187fs) rs1555120300
NM_000256.3(MYBPC3):c.3560del (p.Leu1187fs) rs2095878299
NM_000256.3(MYBPC3):c.3570_3573del (p.Val1192fs) rs1595841063
NM_000256.3(MYBPC3):c.3572C>A (p.Ser1191Ter) rs761545914
NM_000256.3(MYBPC3):c.3595_3596del (p.Met1199fs)
NM_000256.3(MYBPC3):c.3600_3609del (p.Cys1201fs) rs727504271
NM_000256.3(MYBPC3):c.3600_3609dup (p.Val1204fs)
NM_000256.3(MYBPC3):c.3617del (p.Gly1206fs) rs1060501484
NM_000256.3(MYBPC3):c.3624del (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3627+1G>A rs397516031
NM_000256.3(MYBPC3):c.3627+2T>G rs1299079662
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.362del (p.Pro121fs) rs397516032
NM_000256.3(MYBPC3):c.3641G>A (p.Trp1214Ter) rs730880597
NM_000256.3(MYBPC3):c.3644dup (p.Lys1216fs) rs730880361
NM_000256.3(MYBPC3):c.3659_3662delinsTTCAAGAATGGC (p.Asp1220fs) rs886041031
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) rs863225107
NM_000256.3(MYBPC3):c.3664G>T (p.Gly1222Ter) rs730880598
NM_000256.3(MYBPC3):c.3665del (p.Gly1222fs) rs1060501480
NM_000256.3(MYBPC3):c.3677dup (p.Phe1227fs)
NM_000256.3(MYBPC3):c.3688_3691dup (p.Ser1231fs) rs2142849434
NM_000256.3(MYBPC3):c.3689del (p.Phe1230fs)
NM_000256.3(MYBPC3):c.3690_3691del (p.Phe1230fs) rs727504390
NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter) rs397516035
NM_000256.3(MYBPC3):c.3699_3700delinsCT (p.Gln1233_Gly1234delinsHisTer)
NM_000256.3(MYBPC3):c.3702_3703del (p.Leu1236fs) rs2142849399
NM_000256.3(MYBPC3):c.3712_3713del (p.Leu1238fs) rs863225272
NM_000256.3(MYBPC3):c.3713_3714del (p.Leu1238fs)
NM_000256.3(MYBPC3):c.3726del (p.Lys1242fs) rs1064796231
NM_000256.3(MYBPC3):c.3732C>A (p.Cys1244Ter) rs730880600
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs) rs397516038
NM_000256.3(MYBPC3):c.373_374del (p.Ala124_Ala125insTer) rs1057517767
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3744_3758del (p.Gly1249_Cys1253del) rs730880676
NM_000256.3(MYBPC3):c.3746del (p.Gly1249fs) rs2142849315
NM_000256.3(MYBPC3):c.3748del (p.Ile1250fs)
NM_000256.3(MYBPC3):c.3752_3753del (p.Tyr1251fs) rs2095877711
NM_000256.3(MYBPC3):c.3752dup (p.Tyr1251Ter)
NM_000256.3(MYBPC3):c.3753T>G (p.Tyr1251Ter) rs397516039
NM_000256.3(MYBPC3):c.3766del (p.Thr1256fs) rs2095877685
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3773T>A (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.3773T>G (p.Leu1258Ter) rs730880604
NM_000256.3(MYBPC3):c.3779del (p.Gly1260fs)
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe) rs397514751
NM_000256.3(MYBPC3):c.3799del (p.Arg1267fs) rs1595840648
NM_000256.3(MYBPC3):c.3805G>T (p.Glu1269Ter)
NM_000256.3(MYBPC3):c.388del (p.Ser130fs)
NM_000256.3(MYBPC3):c.395dup (p.Ser133fs)
NM_000256.3(MYBPC3):c.401_405del (p.Pro134fs)
NM_000256.3(MYBPC3):c.403A>T (p.Lys135Ter) rs2142868665
NM_000256.3(MYBPC3):c.405del (p.Ser137fs) rs1555123597
NM_000256.3(MYBPC3):c.405dup (p.Gly136fs) rs1555123597
NM_000256.3(MYBPC3):c.410C>G (p.Ser137Ter) rs730880703
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) rs730880704
NM_000256.3(MYBPC3):c.431_432del (p.Gly144fs) rs397516047
NM_000256.3(MYBPC3):c.440del (p.Pro147fs) rs1595849931
NM_000256.3(MYBPC3):c.450del (p.Asp151fs) rs730880677
NM_000256.3(MYBPC3):c.451del (p.Asp151fs)
NM_000256.3(MYBPC3):c.453del (p.Asp151fs) rs730880679
NM_000256.3(MYBPC3):c.455_456del (p.Asp152fs) rs730880680
NM_000256.3(MYBPC3):c.459del (p.Ile154fs) rs397516052
NM_000256.3(MYBPC3):c.462del (p.Ile154fs)
NM_000256.3(MYBPC3):c.466dup (p.Leu156Profs) rs730880366
NM_000256.3(MYBPC3):c.480del (p.Pro161fs) rs1555123496
NM_000256.3(MYBPC3):c.481C>T (p.Pro161Ser) rs397516053
NM_000256.3(MYBPC3):c.484C>T (p.Gln162Ter) rs730880618
NM_000256.3(MYBPC3):c.506-1G>A rs397516056
NM_000256.3(MYBPC3):c.506-1G>T rs397516056
NM_000256.3(MYBPC3):c.506-2A>C rs397516057
NM_000256.3(MYBPC3):c.506-3_506dup rs1555123438
NM_000256.3(MYBPC3):c.514dup (p.Ile172fs) rs2142867855
NM_000256.3(MYBPC3):c.529del (p.Arg177fs)
NM_000256.3(MYBPC3):c.533del (p.Val178fs) rs727503217
NM_000256.3(MYBPC3):c.537_540del (p.Gly180fs) rs2142867804
NM_000256.3(MYBPC3):c.53C>A (p.Ser18Ter)
NM_000256.3(MYBPC3):c.541_560del (p.Ala181fs) rs397516058
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.553A>T (p.Lys185Ter) rs375607980
NM_000256.3(MYBPC3):c.554del (p.Lys185fs) rs2095898569
NM_000256.3(MYBPC3):c.565del (p.Val189fs) rs2142867765
NM_000256.3(MYBPC3):c.568_569del (p.Lys190fs) rs2095898532
NM_000256.3(MYBPC3):c.569del (p.Lys190fs)
NM_000256.3(MYBPC3):c.573G>A (p.Trp191Ter)
NM_000256.3(MYBPC3):c.586del (p.Trp196fs) rs730880681
NM_000256.3(MYBPC3):c.587G>A (p.Trp196Ter) rs2095898504
NM_000256.3(MYBPC3):c.603del (p.Ser201fs)
NM_000256.3(MYBPC3):c.611_618delinsT (p.Gly204fs)
NM_000256.3(MYBPC3):c.613C>T (p.Gln205Ter) rs397516061
NM_000256.3(MYBPC3):c.619dup (p.Leu207fs)
NM_000256.3(MYBPC3):c.623_626dup (p.His210fs)
NM_000256.3(MYBPC3):c.627_637del (p.His210fs) rs1555123389
NM_000256.3(MYBPC3):c.636C>G (p.Ser212Arg) rs397516062
NM_000256.3(MYBPC3):c.653del (p.Lys218fs)
NM_000256.3(MYBPC3):c.654+1G>A rs730880621
NM_000256.3(MYBPC3):c.655-1G>A rs397516067
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.65_66insG (p.Ala23fs) rs1060501479
NM_000256.3(MYBPC3):c.660del (p.Leu221fs)
NM_000256.3(MYBPC3):c.669del (p.Glu223fs)
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) rs786204329
NM_000256.3(MYBPC3):c.681del (p.Asp228fs) rs2095896870
NM_000256.3(MYBPC3):c.688C>T (p.Gln230Ter)
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter) rs774316050
NM_000256.3(MYBPC3):c.711C>G (p.Tyr237Ter) rs774316050
NM_000256.3(MYBPC3):c.718_724del (p.Glu240fs) rs2142866256
NM_000256.3(MYBPC3):c.743_746del (p.Asp248fs)
NM_000256.3(MYBPC3):c.772+1G>A rs397516072
NM_000256.3(MYBPC3):c.772G>T (p.Glu258Ter)
NM_000256.3(MYBPC3):c.787G>T (p.Gly263Ter) rs373730381
NM_000256.3(MYBPC3):c.803dup (p.Ser269fs)
NM_000256.3(MYBPC3):c.821+1G>C rs397516073
NM_000256.3(MYBPC3):c.821+1G>T rs397516073
NM_000256.3(MYBPC3):c.821+2T>A rs397516076
NM_000256.3(MYBPC3):c.821+2T>C rs397516076
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.852-1G>A rs368121566
NM_000256.3(MYBPC3):c.852-2A>G rs1565629792
NM_000256.3(MYBPC3):c.867del (p.Asp289fs)
NM_000256.3(MYBPC3):c.884del (p.Phe295fs) rs730880684
NM_000256.3(MYBPC3):c.887_891del (p.Ser296fs) rs2142865197
NM_000256.3(MYBPC3):c.890C>G (p.Ser297Ter) rs2142865199
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) rs730880629
NM_000256.3(MYBPC3):c.906-1G>A rs587776700
NM_000256.3(MYBPC3):c.906-1G>C rs587776700
NM_000256.3(MYBPC3):c.906-36G>A rs864622197
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000256.3(MYBPC3):c.923_924insAACT (p.Arg309fs) rs730880678
NM_000256.3(MYBPC3):c.927-10C>A rs201078659
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000256.3(MYBPC3):c.965G>A (p.Trp322Ter) rs2142864321
NM_000256.3(MYBPC3):c.966G>A (p.Trp322Ter) rs727503211
NM_000256.3(MYBPC3):c.979C>T (p.Gln327Ter) rs727503210
NM_000256.3(MYBPC3):c.984_1054del (p.Pro329fs) rs1555122751
NM_000256.3(MYBPC3):c.989del (p.Pro330fs)
NM_000256.3(MYBPC3):c.98_99del (p.Thr33fs) rs745811346
NM_000256.3(MYBPC3):c.993dup (p.Glu332Ter) rs727503209
NM_000256.3(MYBPC3):c.999C>A (p.Tyr333Ter) rs367947846
NM_000256.3(MYBPC3):c.999C>G (p.Tyr333Ter) rs367947846
NM_000256.3(MYBPC3):c.999del (p.Glu332_Tyr333insTer)
NM_000256.3:c.3315delG rs1565623093
NM_000257.3(MYH7):c.4522_4524del rs397516220
NM_000257.3(MYH7):c.[1816G>A;2183C>T]
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1049A>G (p.Tyr350Cys) rs876661150
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1061G>A (p.Gly354Asp) rs2138677416
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1073A>T (p.His358Leu) rs606231316
NM_000257.4(MYH7):c.1106G>A (p.Arg369Gln) rs397516089
NM_000257.4(MYH7):c.1106G>C (p.Arg369Pro) rs397516089
NM_000257.4(MYH7):c.1151C>A (p.Ser384Tyr) rs606231319
NM_000257.4(MYH7):c.1157A>G (p.Tyr386Cys) rs727503269
NM_000257.4(MYH7):c.1159C>T (p.Leu387Phe) rs1555338378
NM_000257.4(MYH7):c.1182C>A (p.Asp394Glu) rs1060501452
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.1216G>A (p.Val406Met) rs1422611896
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser) rs121913625
NM_000257.4(MYH7):c.1400T>A (p.Ile467Asn) rs730880872
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser) rs727504236
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1530C>A (p.Phe510Leu) rs606231323
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr) rs397516110
NM_000257.4(MYH7):c.1538T>G (p.Phe513Cys) rs121913636
NM_000257.4(MYH7):c.1544T>G (p.Met515Arg) rs863224900
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1588A>G (p.Ile530Val) rs771831848
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) rs121913642
NM_000257.4(MYH7):c.1618T>C (p.Phe540Leu) rs1060501443
NM_000257.4(MYH7):c.1711G>C (p.Gly571Arg) rs730880879
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.1801C>T (p.Leu601Phe) rs1131691685
NM_000257.4(MYH7):c.1805A>G (p.Asn602Ser) rs730880880
NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu) rs121913646
NM_000257.4(MYH7):c.1952A>G (p.His651Arg) rs606231328
NM_000257.4(MYH7):c.1956+2T>G rs606231329
NM_000257.4(MYH7):c.1963C>A (p.Leu655Met) rs1595084583
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2012G>A (p.Arg671His) rs730880883
NM_000257.4(MYH7):c.2028del (p.Asn676fs) rs606231331
NM_000257.4(MYH7):c.2051T>G (p.Met684Arg) rs606231332
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr) rs397516128
NM_000257.4(MYH7):c.2087A>G (p.Asn696Ser) rs730880732
NM_000257.4(MYH7):c.2092G>A (p.Val698Met) rs1057518560
NM_000257.4(MYH7):c.2104A>G (p.Ile702Val) rs863225101
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2129C>A (p.Pro710His) rs727504272
NM_000257.4(MYH7):c.2135G>A (p.Arg712His) rs1224554825
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2146G>C (p.Gly716Arg) rs121913638
NM_000257.4(MYH7):c.2150A>G (p.Asp717Gly)
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2163-1G>A rs606231334
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2191C>T (p.Pro731Ser) rs727504299
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2222G>A (p.Gly741Glu) rs1057520814
NM_000257.4(MYH7):c.2292C>G (p.Phe764Leu) rs121913643
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2332G>A (p.Asp778Asn) rs730880895
NM_000257.4(MYH7):c.2333A>G (p.Asp778Gly) rs121913634
NM_000257.4(MYH7):c.2334C>A (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2345G>A (p.Ser782Asn) rs886039185
NM_000257.4(MYH7):c.2346C>A (p.Ser782Arg) rs730880736
NM_000257.4(MYH7):c.2366del (p.Gln789fs) rs606231337
NM_000257.4(MYH7):c.2386C>T (p.Leu796Phe) rs1222361739
NM_000257.4(MYH7):c.2411T>C (p.Leu804Pro) rs1555337794
NM_000257.4(MYH7):c.2459C>A (p.Ala820Asp) rs730880741
NM_000257.4(MYH7):c.2464A>G (p.Met822Val) rs730880742
NM_000257.4(MYH7):c.2467G>C (p.Gly823Arg) rs1566531657
NM_000257.4(MYH7):c.2468G>A (p.Gly823Glu)
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His) rs730880746
NM_000257.4(MYH7):c.2513C>T (p.Pro838Leu) rs397516153
NM_000257.4(MYH7):c.2536G>A (p.Glu846Lys) rs730880748
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2594A>T (p.Lys865Met) rs758891557
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2605C>T (p.Arg869Cys) rs730880750
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2618T>C (p.Leu873Pro) rs1555337701
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2631G>T (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2632G>C (p.Val878Leu) rs730880751
NM_000257.4(MYH7):c.2632G>T (p.Val878Leu) rs730880751
NM_000257.4(MYH7):c.2686G>A (p.Asp896Asn) rs606231340
NM_000257.4(MYH7):c.2707G>C (p.Glu903Gln) rs730880756
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.2711G>C (p.Arg904Pro) rs397516165
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys) rs397516170
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del) rs397516172
NM_000257.4(MYH7):c.2788G>A (p.Glu930Lys) rs397516171
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.2791G>A (p.Glu931Lys) rs1131691514
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.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.3577C>A (p.Arg1193Ser) rs886039090
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn) rs730880781
NM_000257.4(MYH7):c.3748C>T (p.Arg1250Trp) rs727503249
NM_000257.4(MYH7):c.4036C>G (p.Gln1346Glu) rs730880787
NM_000257.4(MYH7):c.4048G>A (p.Glu1350Lys) rs1316692489
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys) rs727503245
NM_000257.4(MYH7):c.4156C>T (p.Leu1386Phe) rs727504703
NM_000257.4(MYH7):c.415G>C (p.Val139Leu)
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.4276G>A (p.Glu1426Lys) rs397516208
NM_000257.4(MYH7):c.4300C>T (p.Arg1434Cys) rs730880800
NM_000257.4(MYH7):c.4358T>C (p.Leu1453Pro) rs1246272841
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys) rs876657884
NM_000257.4(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.4(MYH7):c.4499G>C (p.Arg1500Pro) rs121913647
NM_000257.4(MYH7):c.4598T>C (p.Leu1533Pro)
NM_000257.4(MYH7):c.4790T>C (p.Leu1597Pro) rs2138642164
NM_000257.4(MYH7):c.4844AGA[2] (p.Lys1617del) rs121913648
NM_000257.4(MYH7):c.4937T>C (p.Leu1646Pro) rs587779393
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5177AGA[3] (p.Lys1729del) rs367543052
NM_000257.4(MYH7):c.5254G>A (p.Glu1752Lys) rs730880916
NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr) rs267606909
NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys) rs397516241
NM_000257.4(MYH7):c.5344A>G (p.Met1782Val) rs727504385
NM_000257.4(MYH7):c.5346GAA[2] (p.Lys1784del) rs730880935
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) rs121913654
NM_000257.4(MYH7):c.5378_5380del (p.Leu1793del) rs587779396
NM_000257.4(MYH7):c.5401G>A (p.Glu1801Lys) rs397516248
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp) rs28933098
NM_000257.4(MYH7):c.5594A>C (p.Gln1865Pro) rs1595070747
NM_000257.4(MYH7):c.5655+5G>A rs1595070689
NM_000257.4(MYH7):c.5655+5G>C rs1595070689
NM_000257.4(MYH7):c.5702A>T (p.His1901Leu) rs121913649
NM_000257.4(MYH7):c.5740G>A (p.Glu1914Lys) rs397516254
NM_000257.4(MYH7):c.5754C>R (p.Asn1918Lys) rs138110910
NM_000257.4(MYH7):c.5769del (p.Ser1924fs) rs1892066954
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp) rs367543053
NM_000257.4(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr) rs397516258
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.667G>A (p.Ala223Thr) rs121913645
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr) rs1057517773
NM_000257.4(MYH7):c.677C>T (p.Ala226Val) rs876657887
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.732+1G>A rs730880850
NM_000257.4(MYH7):c.732+1G>C rs730880850
NM_000257.4(MYH7):c.732+1G>T rs730880850
NM_000257.4(MYH7):c.732+1del rs397516266
NM_000257.4(MYH7):c.732+2T>G rs1555338658
NM_000257.4(MYH7):c.740T>G (p.Phe247Cys) rs730880922
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.746G>C (p.Arg249Pro)
NM_000257.4(MYH7):c.761C>A (p.Ala254Glu) rs878853842
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000257.4(MYH7):c.842G>C (p.Arg281Thr) rs730880856
NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp) rs397515482
NM_000258.3(MYL3):c.157+1G>A rs2106910461
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.3(MYL3):c.445A>G (p.Met149Val) rs104893748
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000265.6(NCF1):c.*179G>A rs1057519503
NM_000266.4(NDP):c.328T>G (p.Cys110Gly) rs104894876
NM_000266.4(NDP):c.361C>T (p.Arg121Trp) rs104894878
NM_000266.4(NDP):c.362G>T (p.Arg121Leu) rs137852220
NM_000266.4(NDP):c.370C>T (p.Leu124Phe) rs28933684
NM_000274.4(OAT):c.1001dup (p.Ala335fs) rs2134452962
NM_000274.4(OAT):c.1078del (p.Leu360fs) rs1951389692
NM_000274.4(OAT):c.1124G>C (p.Gly375Ala) rs121965045
NM_000274.4(OAT):c.1140del (p.Ile380fs)
NM_000274.4(OAT):c.1150G>T (p.Glu384Ter) rs1285313333
NM_000274.4(OAT):c.1159+1G>A rs2134450136
NM_000274.4(OAT):c.1163G>A (p.Trp388Ter) rs2134440659
NM_000274.4(OAT):c.1164G>A (p.Trp388Ter)
NM_000274.4(OAT):c.1172G>A (p.Trp391Ter) rs386833596
NM_000274.4(OAT):c.1179_1182dup (p.Leu395fs) rs2134440572
NM_000274.4(OAT):c.1180T>C (p.Cys394Arg) rs121965054
NM_000274.4(OAT):c.1186C>T (p.Arg396Ter) rs121965036
NM_000274.4(OAT):c.1201G>T (p.Gly401Ter) rs121965055
NM_000274.4(OAT):c.1205T>C (p.Leu402Pro) rs121965043
NM_000274.4(OAT):c.1253_1260dup (p.Lys421delinsTrpTer) rs2134440057
NM_000274.4(OAT):c.1276C>T (p.Arg426Ter) rs121965058
NM_000274.4(OAT):c.152G>A (p.Gly51Asp)
NM_000274.4(OAT):c.159del (p.His53fs) rs386833599
NM_000274.4(OAT):c.182_189del (p.Ala61fs)
NM_000274.4(OAT):c.192_193del (p.Gly65fs) rs386833600
NM_000274.4(OAT):c.198del (p.Gly67fs) rs1432416419
NM_000274.4(OAT):c.199+303C>G rs386833601
NM_000274.4(OAT):c.1A>G (p.Met1Val) rs1283361732
NM_000274.4(OAT):c.1del (p.Met1fs)
NM_000274.4(OAT):c.200-36_222del rs1564737136
NM_000274.4(OAT):c.268C>G (p.Gln90Glu) rs121965060
NM_000274.4(OAT):c.278G>T (p.Cys93Phe) rs121965038
NM_000274.4(OAT):c.304_305del (p.Lys102fs) rs2134478524
NM_000274.4(OAT):c.3G>A (p.Met1Ile) rs121965034
NM_000274.4(OAT):c.425-4_429del rs386833609
NM_000274.4(OAT):c.426del (p.Val143fs)
NM_000274.4(OAT):c.461G>T (p.Arg154Leu) rs121965039
NM_000274.4(OAT):c.468G>A (p.Trp156Ter)
NM_000274.4(OAT):c.498C>G (p.Tyr166Ter)
NM_000274.4(OAT):c.49_52dup (p.Val18fs) rs1554867854
NM_000274.4(OAT):c.515_516del (p.Phe172fs) rs2134476898
NM_000274.4(OAT):c.525del (p.Asn176fs)
NM_000274.4(OAT):c.533G>A (p.Trp178Ter) rs267606923
NM_000274.4(OAT):c.533_537del (p.Phe177_Trp178insTer) rs386833612
NM_000274.4(OAT):c.534G>A (p.Trp178Ter) rs890106099
NM_000274.4(OAT):c.542C>T (p.Thr181Met) rs386833613
NM_000274.4(OAT):c.546_649-726del rs2134462662
NM_000274.4(OAT):c.550G>A (p.Ala184Thr) rs121965050
NM_000274.4(OAT):c.550_552del (p.Ala184del) rs121965035
NM_000274.4(OAT):c.576del (p.Ser193fs) rs2134465433
NM_000274.4(OAT):c.591dup (p.Gly198fs)
NM_000274.4(OAT):c.627T>A (p.Tyr209Ter) rs121965056
NM_000274.4(OAT):c.661_701del (p.Gln220_Asp221insTer)
NM_000274.4(OAT):c.680_702del (p.Ala226_Phe227insTer) rs2134460074
NM_000274.4(OAT):c.697C>T (p.Gln233Ter)
NM_000274.4(OAT):c.749G>C (p.Arg250Pro) rs121965052
NM_000274.4(OAT):c.764_771+9delinsTTAGCTGTTTGTATCACACCA
NM_000274.4(OAT):c.772-1G>A rs770390524
NM_000274.4(OAT):c.776del (p.Leu259fs) rs2134456729
NM_000274.4(OAT):c.780del (p.Phe260fs) rs2134456707
NM_000274.4(OAT):c.783del (p.Ile261fs) rs1195885907
NM_000274.4(OAT):c.808G>C (p.Ala270Pro) rs121965041
NM_000274.4(OAT):c.812G>A (p.Arg271Lys) rs121965042
NM_000274.4(OAT):c.824G>A (p.Trp275Ter) rs267606924
NM_000274.4(OAT):c.896dup (p.Tyr299Ter) rs2134456170
NM_000274.4(OAT):c.899C>T (p.Pro300Leu) rs759979499
NM_000274.4(OAT):c.900+1G>A rs1589700702
NM_000274.4(OAT):c.952del (p.Glu318fs) rs386833620
NM_000274.4(OAT):c.955C>T (p.His319Tyr) rs121965049
NM_000274.4(OAT):c.966del (p.Tyr323fs) rs1951417940
NM_000274.4(OAT):c.97dup (p.Thr33fs) rs1375779674
NM_000274.4(OAT):c.988_991dup (p.Arg331fs)
NM_000274.4(OAT):c.994G>A (p.Val332Met) rs121965047
NM_000277.3(PAH):c.754C>T (p.Arg252Trp) rs5030847
NM_000297.4(PKD2):c.357_364delinsTAGGACG (p.Pro120fs) rs1057518797
NM_000301.5(PLG):c.2183T>A (p.Val728Glu) rs1582955358
NM_000302.4(PLOD1):c.1790del (p.Pro597fs)
NM_000302.4(PLOD1):c.404_423del (p.Asp135fs) rs745409628
NM_000314.8(PTEN):c.475delinsCTT (p.Arg159fs)
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000322.5(PRPH2):c.273T>A (p.Tyr91Ter) rs1761914145
NM_000322.5(PRPH2):c.273T>G (p.Tyr91Ter)
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp) rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln) rs61755793
NM_000322.5(PRPH2):c.545dup (p.Asn182fs) rs2152010877
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu) rs121918567
NM_000335.4(SCN5A):c.[3919C>T;694G>A]
NM_000335.5(SCN5A):c.104dup (p.Ser36fs)
NM_000335.5(SCN5A):c.1218C>G (p.Asn406Lys) rs199473108
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.1247A>G (p.Tyr416Cys) rs372395294
NM_000335.5(SCN5A):c.127C>T (p.Arg43Ter) rs1553607597
NM_000335.5(SCN5A):c.1338+2T>A rs786204839
NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.1613del (p.Gly538fs) rs1553704183
NM_000335.5(SCN5A):c.1890+2T>G
NM_000335.5(SCN5A):c.1936del (p.Gln646fs) rs727505158
NM_000335.5(SCN5A):c.1963G>T (p.Glu655Ter) rs199473579
NM_000335.5(SCN5A):c.2184_2186del (p.Leu729del) rs1060499940
NM_000335.5(SCN5A):c.2204C>T (p.Ala735Val) rs137854611
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.2466G>A (p.Trp822Ter) rs1553700699
NM_000335.5(SCN5A):c.2482C>G (p.Leu828Val) rs794728929
NM_000335.5(SCN5A):c.2533del (p.Val845fs) rs794728912
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs) rs397514450
NM_000335.5(SCN5A):c.2582_2583del (p.Phe861fs) rs794728914
NM_000335.5(SCN5A):c.260A>G (p.Tyr87Cys) rs1575853007
NM_000335.5(SCN5A):c.2678G>T (p.Arg893Leu) rs199473172
NM_000335.5(SCN5A):c.2742del (p.Leu914fs) rs2061654524
NM_000335.5(SCN5A):c.2787+2T>A rs2061653258
NM_000335.5(SCN5A):c.2821_2822delinsAA (p.Ser941Asn) rs137854605
NM_000335.5(SCN5A):c.2860del (p.Arg954fs) rs2061580394
NM_000335.5(SCN5A):c.2989G>T (p.Ala997Ser) rs137854609
NM_000335.5(SCN5A):c.310C>T (p.Arg104Trp) rs199473055
NM_000335.5(SCN5A):c.3142_3154delinsTCTGACTGTGT (p.Pro1048fs) rs878855287
NM_000335.5(SCN5A):c.3282G>A (p.Trp1094Ter) rs759924541
NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter) rs1575751854
NM_000335.5(SCN5A):c.3488dup (p.Glu1164fs) rs794728918
NM_000335.5(SCN5A):c.361C>T (p.Arg121Trp) rs199473556
NM_000335.5(SCN5A):c.3688G>T (p.Glu1230Ter) rs199473598
NM_000335.5(SCN5A):c.3960+2T>C rs397514447
NM_000335.5(SCN5A):c.3971A>G (p.Asn1324Ser) rs28937317
NM_000335.5(SCN5A):c.3992C>T (p.Pro1331Leu) rs199473225
NM_000335.5(SCN5A):c.3992del (p.Pro1331fs) rs727504801
NM_000335.5(SCN5A):c.4179del (p.Trp1394fs) rs2061229370
NM_000335.5(SCN5A):c.4187del (p.Lys1396fs) rs397514446
NM_000335.5(SCN5A):c.4219G>A (p.Gly1407Arg) rs137854612
NM_000335.5(SCN5A):c.4242+1G>C rs794728879
NM_000335.5(SCN5A):c.4259G>A (p.Trp1420Ter) rs137854620
NM_000335.5(SCN5A):c.4296+1del rs1450434935
NM_000335.5(SCN5A):c.4313dup (p.Trp1439fs) rs2125835486
NM_000335.5(SCN5A):c.435C>A (p.Cys145Ter) rs587781159
NM_000335.5(SCN5A):c.4468C>T (p.Gln1490Ter) rs1559727990
NM_000335.5(SCN5A):c.4471AAG[1] (p.Lys1492del) rs869025522
NM_000335.5(SCN5A):c.4513C>T (p.Pro1505Ser) rs2061147191
NM_000335.5(SCN5A):c.4516_4524del (p.Gln1506_Pro1508del) rs397514251
NM_000335.5(SCN5A):c.468G>A (p.Trp156Ter) rs1553605932
NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter) rs199473620
NM_000335.5(SCN5A):c.4769G>A (p.Trp1590Ter) rs863225273
NM_000335.5(SCN5A):c.4780G>A (p.Asp1594Asn) rs137854607
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His) rs137854607
NM_000335.5(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer) rs863224533
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del) rs749697698
NM_000335.5(SCN5A):c.4864C>T (p.Arg1622Ter) rs137854613
NM_000335.5(SCN5A):c.4865G>A (p.Arg1622Gln) rs137854600
NM_000335.5(SCN5A):c.5293A>T (p.Met1765Leu) rs199473310
NM_000335.5(SCN5A):c.5380T>C (p.Tyr1794His) rs137854615
NM_000335.5(SCN5A):c.5381A>G (p.Tyr1794Cys) rs137854614
NM_000335.5(SCN5A):c.5382_5384dup (p.Tyr1794_Glu1795insAsp) rs397514449
NM_000335.5(SCN5A):c.5414_5417del (p.Thr1805fs) rs1060501127
NM_000335.5(SCN5A):c.6045G>A (p.Val2015=) rs1060499941
NM_000335.5(SCN5A):c.611+1G>A rs794728843
NM_000335.5(SCN5A):c.611+3_611+4dup rs397514252
NM_000335.5(SCN5A):c.664C>T (p.Arg222Ter) rs794728849
NM_000337.6(SGCD):c.133_172dup (p.Lys58fs)
NM_000337.6(SGCD):c.248_249del (p.Asp82_Ser83insTer)
NM_000337.6(SGCD):c.289C>T (p.Arg97Ter) rs758700138
NM_000337.6(SGCD):c.354_358del (p.Thr119fs) rs1760626889
NM_000337.6(SGCD):c.390del (p.Ala131fs) rs397517921
NM_000337.6(SGCD):c.391G>C (p.Ala131Pro) rs267607045
NM_000337.6(SGCD):c.414dup (p.Phe139fs)
NM_000337.6(SGCD):c.466G>T (p.Glu156Ter) rs2113389536
NM_000337.6(SGCD):c.481_485dup (p.Arg163fs)
NM_000337.6(SGCD):c.540_541del (p.Thr180_Pro181insTer)
NM_000337.6(SGCD):c.654_655del (p.Glu218fs)
NM_000337.6(SGCD):c.657del (p.Thr220fs) rs1369919728
NM_000337.6(SGCD):c.65dup (p.Tyr23fs) rs886043031
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000337.6(SGCD):c.74_77dup (p.Ile27fs) rs1554094947
NM_000337.6(SGCD):c.784G>A (p.Glu262Lys) rs121909297
NM_000337.6(SGCD):c.89G>A (p.Trp30Ter) rs121909296
NM_000337.6(SGCD):c.90G>A (p.Trp30Ter)
NM_000337.6(SGCD):c.97C>T (p.Arg33Ter) rs778760498
NM_000363.5(TNNI3):c.106A>C (p.Lys36Gln) rs267607130
NM_000363.5(TNNI3):c.130T>G (p.Ser44Ala) rs2147285302
NM_000363.5(TNNI3):c.187C>T (p.Arg63Ter)
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.258del (p.Leu88fs) rs727503507
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
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.470C>T (p.Ala157Val) rs397516353
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro) rs397516354
NM_000363.5(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) rs727503503
NM_000363.5(TNNI3):c.509G>C (p.Arg170Pro)
NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr) rs121917761
NM_000363.5(TNNI3):c.522G>C (p.Lys174Asn) rs730880231
NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del) rs397516351
NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu) rs104894730
NM_000363.5(TNNI3):c.544G>A (p.Glu182Lys) rs397516355
NM_000363.5(TNNI3):c.547_549del (p.Lys183del) rs2147283135
NM_000363.5(TNNI3):c.549G>T (p.Lys183Asn) rs2085710902
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.574C>T (p.Arg192Cys) rs727503499
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000363.5(TNNI3):c.596G>A (p.Ser199Asn) rs730881091
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.611G>A (p.Arg204His) rs727504275
NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln) rs104894725
NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys) rs267607128
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000371.4(TTR):c.112G>A (p.Asp38Asn) rs1567945632
NM_000371.4(TTR):c.112G>T (p.Asp38Tyr)
NM_000371.4(TTR):c.113A>G (p.Asp38Gly) rs121918098
NM_000371.4(TTR):c.114T>A (p.Asp38Glu) rs779619795
NM_000371.4(TTR):c.116C>A (p.Ala39Asp) rs11541795
NM_000371.4(TTR):c.128G>A (p.Ser43Asn) rs1598844112
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.148G>T (p.Val50Leu)
NM_000371.4(TTR):c.149T>C (p.Val50Ala) rs79977247
NM_000371.4(TTR):c.149T>G (p.Val50Gly) 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.160A>G (p.Arg54Gly) rs1598844184
NM_000371.4(TTR):c.161G>C (p.Arg54Thr) rs1598844187
NM_000371.4(TTR):c.165G>C (p.Lys55Asn)
NM_000371.4(TTR):c.165G>T (p.Lys55Asn) rs1567945684
NM_000371.4(TTR):c.166G>C (p.Ala56Pro) rs121918077
NM_000371.4(TTR):c.167C>A (p.Ala56Asp) rs2073494094
NM_000371.4(TTR):c.172G>C (p.Asp58His) rs2073494217
NM_000371.4(TTR):c.173A>C (p.Asp58Ala) rs1598844213
NM_000371.4(TTR):c.173A>T (p.Asp58Val) rs1598844213
NM_000371.4(TTR):c.179C>A (p.Thr60Asn) rs113625622
NM_000371.4(TTR):c.182G>T (p.Trp61Leu) rs1567945702
NM_000371.4(TTR):c.185A>G (p.Glu62Gly) rs11541796
NM_000371.4(TTR):c.186G>C (p.Glu62Asp) rs1340627860
NM_000371.4(TTR):c.186G>T (p.Glu62Asp) rs1340627860
NM_000371.4(TTR):c.191T>C (p.Phe64Ser) rs104894665
NM_000371.4(TTR):c.194C>T (p.Ala65Val) rs730881169
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>A (p.Gly67Glu) rs121918090
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.206C>T (p.Thr69Ile) rs1555631387
NM_000371.4(TTR):c.209G>T (p.Ser70Ile) rs121918080
NM_000371.4(TTR):c.210T>A (p.Ser70Arg) rs121918076
NM_000371.4(TTR):c.210T>G (p.Ser70Arg) rs121918076
NM_000371.4(TTR):c.212_217dup (p.Glu71_Ser72dup) rs1555631390
NM_000371.4(TTR):c.214T>C (p.Ser72Pro) rs2144409444
NM_000371.4(TTR):c.220G>A (p.Glu74Lys) rs1555631393
NM_000371.4(TTR):c.220G>C (p.Glu74Gln) rs1555631393
NM_000371.4(TTR):c.220_221delinsCT (p.Glu74Leu)
NM_000371.4(TTR):c.221A>G (p.Glu74Gly) rs1598845097
NM_000371.4(TTR):c.223C>A (p.Leu75Met) rs2073510448
NM_000371.4(TTR):c.224T>C (p.Leu75Pro) rs121918079
NM_000371.4(TTR):c.224T>G (p.Leu75Arg) rs121918079
NM_000371.4(TTR):c.229G>A (p.Gly77Arg) rs1598845111
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.236C>A (p.Thr79Lys) rs730881163
NM_000371.4(TTR):c.241G>A (p.Glu81Lys) rs121918086
NM_000371.4(TTR):c.244G>A (p.Glu82Lys) rs1555631402
NM_000371.4(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000371.4(TTR):c.252T>G (p.Phe84Leu) rs2073510805
NM_000371.4(TTR):c.265T>C (p.Tyr89His) rs121918100
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.277A>G (p.Ile93Val) rs1598845164
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr) rs121918071
NM_000371.4(TTR):c.302C>T (p.Ala101Val) rs1555631417
NM_000371.4(TTR):c.311T>A (p.Ile104Asn)
NM_000371.4(TTR):c.311T>C (p.Ile104Thr) rs121918072
NM_000371.4(TTR):c.311T>G (p.Ile104Ser) rs121918072
NM_000371.4(TTR):c.323A>G (p.His108Arg) rs2073511411
NM_000371.4(TTR):c.325G>A (p.Glu109Lys) rs121918082
NM_000371.4(TTR):c.325G>C (p.Glu109Gln) rs121918082
NM_000371.4(TTR):c.327G>T (p.Glu109Asp) rs876661395
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.381T>G (p.Ile127Met) rs751430411
NM_000371.4(TTR):c.385G>T (p.Ala129Ser) rs267607159
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.418G>T (p.Ala140Ser) rs876658108
NM_000371.4(TTR):c.421GTC[1] (p.Val142del) rs121918096
NM_000371.4(TTR):c.425T>C (p.Val142Ala) rs2144414426
NM_000371.4(TTR):c.94C>G (p.Leu32Val) rs2144406525
NM_000371.4(TTR):c.95T>C (p.Leu32Pro) rs121918094
NM_000371.4(TTR):c.[239C>T];[424G>A]
NM_000390.2:c.315_702del
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs) rs1603262410
NM_000390.4(CHM):c.1066A>T (p.Lys356Ter) rs2147663153
NM_000390.4(CHM):c.1166+1G>C rs2147662906
NM_000390.4(CHM):c.1314C>G (p.Tyr438Ter) rs1603244690
NM_000390.4(CHM):c.1350-1G>A rs2148153587
NM_000390.4(CHM):c.1358_1359delinsGA (p.Ser453Ter) rs132630263
NM_000390.4(CHM):c.1359C>T (p.Ser453=) rs2148153518
NM_000390.4(CHM):c.1413+1G>T rs1926202120
NM_000390.4(CHM):c.1471G>T (p.Glu491Ter) rs132630265
NM_000390.4(CHM):c.1484C>A (p.Ser495Ter) rs132630264
NM_000390.4(CHM):c.1497C>A (p.Cys499Ter) rs132630267
NM_000390.4(CHM):c.1520A>G (p.His507Arg) rs397514603
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter) rs1603236385
NM_000390.4(CHM):c.1584_1587del (p.Val529fs) rs587776746
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs) rs1924193863
NM_000390.4(CHM):c.1680del (p.Ser561fs) rs1556207100
NM_000390.4(CHM):c.187C>T (p.Gln63Ter) rs1931625420
NM_000390.4(CHM):c.22G>T (p.Glu8Ter) rs1603288832
NM_000390.4(CHM):c.232C>T (p.Gln78Ter) rs2147706580
NM_000390.4(CHM):c.280del (p.Thr94fs) rs1555958073
NM_000390.4(CHM):c.294_295del (p.Glu99fs)
NM_000390.4(CHM):c.29_30del (p.Asp10fs) rs1603288815
NM_000390.4(CHM):c.368_390dup (p.Thr131delinsLeuLeuTer) rs2147676302
NM_000390.4(CHM):c.386_399delinsG (p.Asn129fs) rs1930439753
NM_000390.4(CHM):c.419del (p.Pro140fs) rs1930438584
NM_000390.4(CHM):c.437T>G (p.Leu146Ter) rs2147676177
NM_000390.4(CHM):c.469C>T (p.Gln157Ter) rs1930431885
NM_000390.4(CHM):c.498_499dup (p.Leu167fs) rs1930428430
NM_000390.4(CHM):c.525_526del (p.Glu177fs) rs886041177
NM_000390.4(CHM):c.564_565del (p.Pro189fs) rs1603264449
NM_000390.4(CHM):c.652_655del (p.Ser218fs) rs1930413413
NM_000390.4(CHM):c.660del (p.Ile221fs) rs1603264410
NM_000390.4(CHM):c.703-2A>G rs2147667674
NM_000390.4(CHM):c.715C>T (p.Arg239Ter) rs776256380
NM_000390.4(CHM):c.751_752del (p.Asn250_Val251insTer)
NM_000390.4(CHM):c.799C>T (p.Arg267Ter) rs886041179
NM_000390.4(CHM):c.808C>T (p.Arg270Ter) rs527236048
NM_000390.4(CHM):c.819+1G>C rs1603263147
NM_000390.4(CHM):c.820-2A>G rs1556307713
NM_000390.4(CHM):c.846dup (p.Asn283Ter) rs2147665855
NM_000390.4(CHM):c.856C>T (p.Gln286Ter) rs2147665799
NM_000390.4(CHM):c.877C>T (p.Arg293Ter) rs132630266
NM_000390.4(CHM):c.941-1G>A
NM_000390.4(CHM):c.961del (p.Tyr321fs) rs2147663454
NM_000390.4(CHM):c.999_1000insT (p.Gln334fs)
NM_000428.3(LTBP2):c.1642C>T (p.Arg548Ter) rs137854855
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_000432.4(MYL2):c.3+2T>C rs111373423
NM_000432.4(MYL2):c.403-1G>A
NM_000432.4(MYL2):c.403-1G>T rs199474813
NM_000432.4(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.4(MYL2):c.473T>C (p.Ile158Thr) rs2136767620
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.4(MYL2):c.485G>A (p.Gly162Glu) rs397516406
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu) rs104894370
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000435.3(NOTCH3):c.1136G>A (p.Cys379Tyr)
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys) rs863225297
NM_000435.3(NOTCH3):c.1282T>A (p.Cys428Ser) rs267606915
NM_000435.3(NOTCH3):c.1303T>C (p.Cys435Arg)
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) rs28933698
NM_000435.3(NOTCH3):c.145T>C (p.Cys49Arg) rs1555730197
NM_000435.3(NOTCH3):c.145T>G (p.Cys49Gly) rs1555730197
NM_000435.3(NOTCH3):c.1492G>T (p.Gly498Cys) rs2145434841
NM_000435.3(NOTCH3):c.1531T>G (p.Cys511Gly) rs2046897246
NM_000435.3(NOTCH3):c.1547G>A (p.Cys516Tyr) rs2046897026
NM_000435.3(NOTCH3):c.160C>T (p.Arg54Cys) rs1555730189
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys) rs75068032
NM_000435.3(NOTCH3):c.187G>A (p.Ala63Thr) rs864621964
NM_000435.3(NOTCH3):c.194G>A (p.Cys65Tyr) rs1555730176
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser) rs1555730176
NM_000435.3(NOTCH3):c.194G>T (p.Cys65Phe) rs1555730176
NM_000435.3(NOTCH3):c.213G>T (p.Trp71Cys) rs28937321
NM_000435.3(NOTCH3):c.224G>C (p.Arg75Pro) rs145069047
NM_000435.3(NOTCH3):c.2411-1G>T rs864621966
NM_000435.3(NOTCH3):c.268C>T (p.Arg90Cys) rs1555729604
NM_000435.3(NOTCH3):c.2963G>A (p.Cys988Tyr)
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg) rs1599382214
NM_000435.3(NOTCH3):c.3091C>T (p.Arg1031Cys) rs1285584068
NM_000435.3(NOTCH3):c.3241T>C (p.Cys1081Arg) rs2046827455
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.341-1G>C
NM_000435.3(NOTCH3):c.397C>T (p.Arg133Cys) rs137852642
NM_000435.3(NOTCH3):c.421C>T (p.Arg141Cys) rs1174625611
NM_000435.3(NOTCH3):c.4360del (p.Asp1454fs)
NM_000435.3(NOTCH3):c.437G>A (p.Cys146Tyr) rs1236699193
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys) rs797045014
NM_000435.3(NOTCH3):c.505C>T (p.Arg169Cys) rs28933696
NM_000435.3(NOTCH3):c.547T>A (p.Cys183Ser)
NM_000435.3(NOTCH3):c.580T>A (p.Cys194Ser) rs1568361818
NM_000435.3(NOTCH3):c.581G>A (p.Cys194Tyr) rs2145441541
NM_000435.3(NOTCH3):c.634T>C (p.Cys212Arg) rs1555729455
NM_000435.3(NOTCH3):c.699T>G (p.Cys233Trp)
NM_000435.3(NOTCH3):c.714_758del (p.Asp239_Asp253del) rs864621965
NM_000435.3(NOTCH3):c.751T>C (p.Cys251Arg) rs1568361608
NM_000435.3(NOTCH3):c.994C>T (p.Arg332Cys) rs137852641
NM_000459.5(TEK):c.2689T>C (p.Tyr897His) rs2131227936
NM_000459.5(TEK):c.2690A>C (p.Tyr897Ser) rs80338909
NM_000459.5(TEK):c.2690A>G (p.Tyr897Cys) rs80338909
NM_000459.5(TEK):c.2740C>T (p.Leu914Phe) rs1825682849
NM_000459.5(TEK):c.2744G>A (p.Arg915His) rs387906745
NM_000459.5(TEK):c.3295C>T (p.Arg1099Ter) rs1826418572
NM_000459.5(TEK):c.3323_3324del (p.Leu1107_Tyr1108insTer)
NM_000459.5(TEK):c.3324T>A (p.Tyr1108Ter) rs1826462356
NM_000459.5(TEK):c.3339T>A (p.Tyr1113Ter)
NM_000475.5(NR0B1):c.1042del (p.Glu348fs) rs1926563553
NM_000475.5(NR0B1):c.1104C>A (p.Cys368Ter)
NM_000475.5(NR0B1):c.1168+1del rs2147006209
NM_000475.5(NR0B1):c.1286_1295del (p.Leu429fs)
NM_000475.5(NR0B1):c.1292del (p.Ser431fs)
NM_000475.5(NR0B1):c.159dup (p.Leu54fs) rs1926602170
NM_000475.5(NR0B1):c.226C>T (p.Gln76Ter) rs2147007353
NM_000475.5(NR0B1):c.25C>T (p.Gln9Ter)
NM_000475.5(NR0B1):c.271del (p.Tyr91fs)
NM_000475.5(NR0B1):c.292G>T (p.Glu98Ter)
NM_000475.5(NR0B1):c.327C>A (p.Cys109Ter) rs1555973172
NM_000475.5(NR0B1):c.382_425dup (p.Gln142fs)
NM_000475.5(NR0B1):c.405T>A (p.Cys135Ter)
NM_000475.5(NR0B1):c.418_452del (p.His139_Pro140insTer)
NM_000475.5(NR0B1):c.501del (p.Gly169fs) rs1569268976
NM_000475.5(NR0B1):c.509_510dup (p.Trp171fs)
NM_000475.5(NR0B1):c.516G>A (p.Trp172Ter) rs1555973131
NM_000475.5(NR0B1):c.528C>G (p.Tyr176Ter) rs767828388
NM_000475.5(NR0B1):c.552del (p.Glu185fs) rs1555973115
NM_000475.5(NR0B1):c.664C>T (p.Gln222Ter)
NM_000475.5(NR0B1):c.708G>A (p.Trp236Ter) rs1131691564
NM_000475.5(NR0B1):c.901C>T (p.Gln301Ter) rs1555973010
NM_000475.5(NR0B1):c.919G>T (p.Glu307Ter) rs1324519932
NM_000484.4(APP):c.2075C>G (p.Ala692Gly) rs63750671
NM_000484.4(APP):c.2077G>A (p.Glu693Lys) rs63750579
NM_000484.4(APP):c.2077G>C (p.Glu693Gln) rs63750579
NM_000484.4(APP):c.2078A>G (p.Glu693Gly) rs63751039
NM_000484.4(APP):c.2080G>A (p.Asp694Asn) rs63749810
NM_000484.4(APP):c.2149G>A (p.Val717Ile) rs63750264
NM_000501.2(ELN):c.(?_-60)_(*57_?)del
NM_000501.4(ELN):c.1040del (p.Pro347fs) rs1563826213
NM_000501.4(ELN):c.1075_1082dup (p.Ala362fs) rs2131925210
NM_000501.4(ELN):c.1097-1G>A rs727503029
NM_000501.4(ELN):c.1101del (p.Val368fs) rs863223520
NM_000501.4(ELN):c.1111del (p.Glu371fs)
NM_000501.4(ELN):c.1113dup (p.Ala372fs) rs730880355
NM_000501.4(ELN):c.1149C>A (p.Tyr383Ter) rs199621188
NM_000501.4(ELN):c.1168G>T (p.Gly390Ter) rs372889752
NM_000501.4(ELN):c.1190dup (p.Tyr397Ter) rs1795205877
NM_000501.4(ELN):c.1191_1199del (p.Tyr397_Gly400delinsTer) rs2132059492
NM_000501.4(ELN):c.1191del (p.Thr396_Tyr397insTer)
NM_000501.4(ELN):c.1208del (p.Gly403fs) rs727504433
NM_000501.4(ELN):c.1217dup (p.Phe407fs)
NM_000501.4(ELN):c.1227del (p.Gly410fs) rs1563836689
NM_000501.4(ELN):c.1282G>T (p.Gly428Ter) rs200862792
NM_000501.4(ELN):c.1292del (p.Gly431fs)
NM_000501.4(ELN):c.131del (p.Pro44fs) rs727503023
NM_000501.4(ELN):c.1324C>T (p.Gln442Ter) rs137854452
NM_000501.4(ELN):c.1351A>T (p.Lys451Ter) rs2132079396
NM_000501.4(ELN):c.1393dup (p.Ala465fs) rs2132135741
NM_000501.4(ELN):c.1452_1453insA (p.Val485fs) rs2132288547
NM_000501.4(ELN):c.1482del (p.Val495fs) rs1583959262
NM_000501.4(ELN):c.1539del (p.Gly514fs)
NM_000501.4(ELN):c.1621C>T (p.Arg541Ter) rs137854453
NM_000501.4(ELN):c.163+2T>A
NM_000501.4(ELN):c.163+2T>C rs1584494326
NM_000501.4(ELN):c.1654G>T (p.Gly552Ter)
NM_000501.4(ELN):c.166del (p.Leu56fs) rs2131266202
NM_000501.4(ELN):c.1679del (p.Pro560fs) rs2132320442
NM_000501.4(ELN):c.1706del (p.Pro569fs)
NM_000501.4(ELN):c.171del (p.Pro58fs) rs1554666513
NM_000501.4(ELN):c.1728dup (p.Val577fs) rs2132322943
NM_000501.4(ELN):c.1737del (p.Phe580fs)
NM_000501.4(ELN):c.1744del (p.Ala582fs) rs727503783
NM_000501.4(ELN):c.1748del (p.Val583fs)
NM_000501.4(ELN):c.1785T>A (p.Tyr595Ter) rs727503033
NM_000501.4(ELN):c.1817del (p.Leu606fs) rs1797063858
NM_000501.4(ELN):c.1858+5G>C rs1554686162
NM_000501.4(ELN):c.1858G>T (p.Gly620Ter) rs727503034
NM_000501.4(ELN):c.1918+1G>A rs727503035
NM_000501.4(ELN):c.192del (p.Lys64fs)
NM_000501.4(ELN):c.1973del (p.Pro658fs)
NM_000501.4(ELN):c.1A>G (p.Met1Val)
NM_000501.4(ELN):c.2058del (p.Gly688fs) rs886039351
NM_000501.4(ELN):c.278del (p.Pro93fs) rs1791508570
NM_000501.4(ELN):c.295_296del (p.Ala99fs) rs1554669297
NM_000501.4(ELN):c.2T>C (p.Met1Thr) rs863223518
NM_000501.4(ELN):c.348del (p.Gly117fs) rs2131453910
NM_000501.4(ELN):c.364G>T (p.Gly122Ter)
NM_000501.4(ELN):c.377-2A>G
NM_000501.4(ELN):c.383del (p.Val128fs) rs1554669800
NM_000501.4(ELN):c.391C>T (p.Gln131Ter) rs1791626037
NM_000501.4(ELN):c.414dup (p.Gly139fs) rs1791633917
NM_000501.4(ELN):c.417del (p.Val141fs) rs878854452
NM_000501.4(ELN):c.435del (p.Leu146fs) rs727503024
NM_000501.4(ELN):c.43dup (p.Leu15fs) rs727503022
NM_000501.4(ELN):c.450C>A (p.Tyr150Ter) rs137854454
NM_000501.4(ELN):c.450C>G (p.Tyr150Ter) rs137854454
NM_000501.4(ELN):c.526A>T (p.Lys176Ter) rs137854455
NM_000501.4(ELN):c.554_555delinsA (p.Ala185fs)
NM_000501.4(ELN):c.582del (p.Phe195fs) rs2131603022
NM_000501.4(ELN):c.59del (p.Ile20fs)
NM_000501.4(ELN):c.608del (p.Pro203fs) rs727504581
NM_000501.4(ELN):c.609del (p.Leu204fs)
NM_000501.4(ELN):c.611del (p.Leu204fs)
NM_000501.4(ELN):c.634A>T (p.Lys212Ter) rs1554672587
NM_000501.4(ELN):c.643+1_643+2delinsAG rs1554672602
NM_000501.4(ELN):c.65_69dup (p.Ser24fs) rs1787875866
NM_000501.4(ELN):c.660del (p.Tyr221fs)
NM_000501.4(ELN):c.662dup (p.Tyr221Ter)
NM_000501.4(ELN):c.690T>A (p.Tyr230Ter) rs1400530335
NM_000501.4(ELN):c.69del (p.Ser24fs)
NM_000501.4(ELN):c.775del (p.Ala259fs)
NM_000501.4(ELN):c.786del (p.Ala263fs)
NM_000501.4(ELN):c.800-2A>G rs727503027
NM_000501.4(ELN):c.800-3C>G rs397516433
NM_000501.4(ELN):c.82+1G>A rs2130830261
NM_000501.4(ELN):c.82+1G>C rs2130830261
NM_000501.4(ELN):c.840_843dup (p.Val282fs) rs1794096639
NM_000501.4(ELN):c.862dup (p.Ala288fs) rs727503028
NM_000501.4(ELN):c.869del (p.Pro290fs) rs1794104889
NM_000501.4(ELN):c.885del (p.Ile295fs) rs1794108907
NM_000501.4(ELN):c.889+2T>C rs727504419
NM_000501.4(ELN):c.890-1G>A rs1794129841
NM_000501.4(ELN):c.890-2A>G rs727504434
NM_000501.4(ELN):c.8del (p.Gly3fs) rs2130826217
NM_000501.4(ELN):c.909_916del (p.Ala304fs) rs2131856285
NM_000501.4(ELN):c.944A>G (p.Lys315Arg) rs1554676454
NM_000501.4(ELN):c.948T>A (p.Tyr316Ter) rs2131858633
NM_000501.4(ELN):c.94del (p.Ala32fs)
NM_000501.4(ELN):c.96del (p.Ile33fs) rs2131151265
NM_000501.4(ELN):c.[1034_1057dup;1741_1742delinsCA]
NM_000505.4(F12):c.894_911dup (p.Gln300_Thr305dup) rs774034606
NM_000505.4(F12):c.971_1018+24del rs1554097246
NM_000505.4(F12):c.983C>A (p.Thr328Lys) rs118204456
NM_000505.4(F12):c.983C>G (p.Thr328Arg) rs118204456
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000539.3(RHO):c.891C>G (p.Ser297Arg) rs142285818
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000546.6(TP53):c.1009C>T (p.Arg337Cys) rs587782529
NM_000546.6(TP53):c.1024C>T (p.Arg342Ter) rs730882029
NM_000546.6(TP53):c.158G>A (p.Trp53Ter) rs876658483
NM_000546.6(TP53):c.159G>A (p.Trp53Ter) rs1064794618
NM_000546.6(TP53):c.272G>A (p.Trp91Ter) rs2073465664
NM_000546.6(TP53):c.329G>C (p.Arg110Pro) rs11540654
NM_000546.6(TP53):c.375G>C (p.Thr125=) rs55863639
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.389T>C (p.Leu130Pro) rs1131691013
NM_000546.6(TP53):c.406C>T (p.Gln136Ter)
NM_000546.6(TP53):c.448_460del (p.Thr150fs) rs1064792930
NM_000546.6(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.6(TP53):c.499C>T (p.Gln167Ter) rs1555526097
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.532del (p.His178fs) rs786202525
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.578A>G (p.His193Arg) rs786201838
NM_000546.6(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_000546.6(TP53):c.586C>T (p.Arg196Ter) rs397516435
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.672+1G>A rs863224499
NM_000546.6(TP53):c.72dup (p.Leu25fs) rs2151047224
NM_000546.6(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_000546.6(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_000546.6(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_000546.6(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_000546.6(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_000546.6(TP53):c.799C>G (p.Arg267Gly)
NM_000546.6(TP53):c.817C>G (p.Arg273Gly) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000546.6(TP53):c.96+1G>T rs1131691003
NM_000546.6(TP53):c.97-11C>G rs769697802
NM_000551.4(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.4(VHL):c.530_536del (p.Arg177fs) rs1575932266
NM_000685.5(AGTR1):c.233del (p.Leu78fs) rs1380295297
NM_000702.4(ATP1A2):c.1033A>G (p.Thr345Ala) rs121918613
NM_000702.4(ATP1A2):c.1091C>T (p.Thr364Met) rs1553244881
NM_000702.4(ATP1A2):c.1097G>T (p.Gly366Val) rs1057518514
NM_000702.4(ATP1A2):c.1127C>G (p.Thr376Arg) rs121918620
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met) rs121918620
NM_000702.4(ATP1A2):c.1130G>T (p.Gly377Val)
NM_000702.4(ATP1A2):c.1133C>A (p.Thr378Asn) rs28934002
NM_000702.4(ATP1A2):c.1133C>T (p.Thr378Ile) rs28934002
NM_000702.4(ATP1A2):c.1234C>T (p.Arg412Ter)
NM_000702.4(ATP1A2):c.1405A>T (p.Arg469Ter)
NM_000702.4(ATP1A2):c.1453A>T (p.Lys485Ter) rs2101989829
NM_000702.4(ATP1A2):c.1570G>T (p.Glu524Ter)
NM_000702.4(ATP1A2):c.1639del (p.Glu547fs) rs1651730901
NM_000702.4(ATP1A2):c.1642C>T (p.Arg548Cys) rs1651731153
NM_000702.4(ATP1A2):c.1643G>A (p.Arg548His) rs121918616
NM_000702.4(ATP1A2):c.1743C>A (p.Cys581Ter) rs1570990484
NM_000702.4(ATP1A2):c.1777C>T (p.Arg593Trp) rs886039530
NM_000702.4(ATP1A2):c.1778G>T (p.Arg593Leu) rs1553245178
NM_000702.4(ATP1A2):c.1810C>T (p.Arg604Ter) rs1469902667
NM_000702.4(ATP1A2):c.1816G>A (p.Ala606Thr) rs1414742926
NM_000702.4(ATP1A2):c.1843G>A (p.Gly615Arg) rs770053423
NM_000702.4(ATP1A2):c.1882G>A (p.Val628Met) rs1553245659
NM_000702.4(ATP1A2):c.188del (p.Asn63fs) rs1651475047
NM_000702.4(ATP1A2):c.2066G>A (p.Arg689Gln) rs28933401
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) rs1558008455
NM_000702.4(ATP1A2):c.2126_2127del (p.Val709fs)
NM_000702.4(ATP1A2):c.2143G>A (p.Gly715Arg) rs1553245771
NM_000702.4(ATP1A2):c.2192T>C (p.Met731Thr) rs28933400
NM_000702.4(ATP1A2):c.2291T>C (p.Leu764Pro) rs28933398
NM_000702.4(ATP1A2):c.2357C>T (p.Pro786Leu) rs1209724722
NM_000702.4(ATP1A2):c.2471dup (p.Ala824_Glu825insTer) rs1651944837
NM_000702.4(ATP1A2):c.2500C>T (p.Arg834Ter) rs755310507
NM_000702.4(ATP1A2):c.2501G>A (p.Arg834Gln) rs2101995864
NM_000702.4(ATP1A2):c.2563G>A (p.Gly855Arg) rs1553245857
NM_000702.4(ATP1A2):c.2659T>C (p.Trp887Arg) rs28933399
NM_000702.4(ATP1A2):c.2708G>A (p.Trp903Ter)
NM_000702.4(ATP1A2):c.2723G>A (p.Arg908Gln) rs2101996488
NM_000702.4(ATP1A2):c.2936C>T (p.Pro979Leu) rs121918615
NM_000702.4(ATP1A2):c.2977CTC[1] (p.Leu994del)
NM_000702.4(ATP1A2):c.2983dup (p.Ile995fs)
NM_000702.4(ATP1A2):c.3005G>A (p.Arg1002Gln) rs757310141
NM_000702.4(ATP1A2):c.3019C>T (p.Arg1007Trp)
NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter) rs1570998206
NM_000702.4(ATP1A2):c.524del (p.Lys175fs)
NM_000702.4(ATP1A2):c.571G>A (p.Val191Met) rs869025341
NM_000702.4(ATP1A2):c.605G>A (p.Arg202Gln)
NM_000702.4(ATP1A2):c.659C>T (p.Ser220Leu)
NM_000702.4(ATP1A2):c.720_721del (p.Ile240fs) rs2101986777
NM_000702.4(ATP1A2):c.736_739del (p.Asn246fs) rs1651548761
NM_000702.4(ATP1A2):c.855dup (p.Ile286fs) rs2101988410
NM_000702.4(ATP1A2):c.869_872del (p.Ile290fs)
NM_000702.4(ATP1A2):c.889G>A (p.Ala297Thr) rs181618883
NM_000702.4(ATP1A2):c.901G>A (p.Gly301Arg) rs121918612
NM_000702.4(ATP1A2):c.970G>A (p.Gly324Ser) rs1570987954
NM_000702.4(ATP1A2):c.988G>A (p.Val330Met) rs1236883845
NM_000702.4(ATP1A2):c.991C>G (p.Pro331Ala)
NM_000719.7(CACNA1C):c.116C>T (p.Ala39Val) rs121912776
NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser) rs80315385
NM_000719.7(CACNA1C):c.1216G>A (p.Gly406Arg) rs79891110
NM_000719.7(CACNA1C):c.1255G>A (p.Gly419Arg) rs786205776
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_000719.7(CACNA1C):c.1745C>A (p.Ala582Asp) rs1568469857
NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly) rs2154593437
NM_000719.7(CACNA1C):c.1928C>T (p.Ser643Phe)
NM_000719.7(CACNA1C):c.2500A>G (p.Lys834Glu) rs1555836187
NM_000719.7(CACNA1C):c.2570C>G (p.Pro857Arg) rs750835733
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) rs750835733
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.3343G>A (p.Glu1115Lys) rs199473391
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr) rs797044881
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala) rs2153440081
NM_000719.7(CACNA1C):c.4087G>T (p.Val1363Leu) rs1555968941
NM_000719.7(CACNA1C):c.4425C>G (p.Ile1475Met) rs1569139160
NM_000719.7(CACNA1C):c.5884C>T (p.Arg1962Ter)
NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn) rs2154562881
NM_000720.4(CACNA1D):c.1208_1209insGGG (p.Gly403dup) rs398122827
NM_000890.5(KCNJ5):c.451G>A (p.Gly151Arg) rs386352319
NM_000890.5(KCNJ5):c.452G>A (p.Gly151Glu) rs587777437
NM_000891.3(KCNJ2):c.-217+1029_422del
NM_000891.3(KCNJ2):c.1102del (p.Leu368fs) rs1567823248
NM_000891.3(KCNJ2):c.1177G>T (p.Gly393Ter) rs1598211614
NM_000891.3(KCNJ2):c.118C>T (p.Arg40Ter) rs786205811
NM_000891.3(KCNJ2):c.161G>T (p.Cys54Phe) rs199473650
NM_000891.3(KCNJ2):c.199C>T (p.Arg67Trp) rs104894580
NM_000891.3(KCNJ2):c.212A>T (p.Asp71Val) rs104894575
NM_000891.3(KCNJ2):c.224C>G (p.Thr75Arg) rs104894585
NM_000891.3(KCNJ2):c.224C>T (p.Thr75Met) rs104894585
NM_000891.3(KCNJ2):c.232G>A (p.Asp78Asn)
NM_000891.3(KCNJ2):c.232G>T (p.Asp78Tyr) rs199473372
NM_000891.3(KCNJ2):c.233A>G (p.Asp78Gly) rs199473371
NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp) rs199473373
NM_000891.3(KCNJ2):c.245G>A (p.Arg82Gln) rs199473653
NM_000891.3(KCNJ2):c.285_296del (p.Trp96_Phe99del) rs2144376746
NM_000891.3(KCNJ2):c.431G>A (p.Gly144Asp) rs199473377
NM_000891.3(KCNJ2):c.431G>C (p.Gly144Ala) rs199473377
NM_000891.3(KCNJ2):c.436G>A (p.Gly146Ser) rs199473654
NM_000891.3(KCNJ2):c.514G>A (p.Asp172Asn) rs104894584
NM_000891.3(KCNJ2):c.557C>T (p.Pro186Leu) rs104894581
NM_000891.3(KCNJ2):c.574A>G (p.Thr192Ala) rs199473382
NM_000891.3(KCNJ2):c.575C>T (p.Thr192Ile) rs199473655
NM_000891.3(KCNJ2):c.578T>C (p.Leu193Pro) rs1555603955
NM_000891.3(KCNJ2):c.644G>A (p.Gly215Asp) rs199473383
NM_000891.3(KCNJ2):c.646A>C (p.Asn216His) rs104894583
NM_000891.3(KCNJ2):c.652C>T (p.Arg218Trp) rs104894578
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_000891.3(KCNJ2):c.682C>T (p.Arg228Ter) rs1060500053
NM_000891.3(KCNJ2):c.715G>T (p.Glu239Ter) rs1555603974
NM_000891.3(KCNJ2):c.721del (p.Glu241fs) rs2074388917
NM_000891.3(KCNJ2):c.896A>T (p.Glu299Val) rs786205817
NM_000891.3(KCNJ2):c.899G>A (p.Gly300Asp) rs104894579
NM_000891.3(KCNJ2):c.899G>T (p.Gly300Val) rs104894579
NM_000891.3(KCNJ2):c.902T>A (p.Met301Lys)
NM_000891.3(KCNJ2):c.902T>G (p.Met301Arg) rs876661184
NM_000891.3(KCNJ2):c.904G>A (p.Val302Met) rs104894582
NM_000891.3(KCNJ2):c.913A>C (p.Thr305Pro) rs199473387
NM_000891.3(KCNJ2):c.913A>G (p.Thr305Ala) rs199473387
NM_000891.3(KCNJ2):c.919A>G (p.Met307Val) rs1555603994
NM_000891.3(KCNJ2):c.926C>T (p.Thr309Ile) rs199473388
NM_000891.3(KCNJ2):c.934C>T (p.Arg312Cys) rs199473389
NM_000891.3(KCNJ2):c.935G>A (p.Arg312His) rs786205820
NM_000891.3(KCNJ2):c.939_944del (p.Ser314_Tyr315del) rs2074390325
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_001001548.3(CD36):c.120+1G>A
NM_001005242.3(PKP2):c.1002_1003del (p.Arg336fs)
NM_001005242.3(PKP2):c.1003G>T (p.Glu335Ter) rs1396519956
NM_001005242.3(PKP2):c.1125_1132del (p.Phe376fs) rs794729124
NM_001005242.3(PKP2):c.1127del (p.Phe376fs) rs2137919527
NM_001005242.3(PKP2):c.1128dup (p.Ile377fs) rs1956873853
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_001005242.3(PKP2):c.1170+1G>A rs786204392
NM_001005242.3(PKP2):c.1170+1G>C
NM_001005242.3(PKP2):c.1170+1G>T
NM_001005242.3(PKP2):c.1170+2T>A rs397516987
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter) rs786204393
NM_001005242.3(PKP2):c.1204C>T (p.Gln402Ter)
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1217_1379-790inv
NM_001005242.3(PKP2):c.121del (p.Ala41fs)
NM_001005242.3(PKP2):c.1252del (p.Ala418fs) rs1555145509
NM_001005242.3(PKP2):c.1264_1265del (p.Leu422fs) rs1956690062
NM_001005242.3(PKP2):c.1295_1323dup (p.Leu442delinsArgTrpLeuAsnTer)
NM_001005242.3(PKP2):c.1368del (p.Lys456fs) rs1393661338
NM_001005242.3(PKP2):c.1368dup (p.Gln457fs) rs1393661338
NM_001005242.3(PKP2):c.1369C>T (p.Gln457Ter) rs1956688410
NM_001005242.3(PKP2):c.1369_1372del (p.Lys456_Gln457insTer) rs397516993
NM_001005242.3(PKP2):c.1378+1G>A rs397516994
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.1379-1992C>T rs2137837678
NM_001005242.3(PKP2):c.1379-1G>C rs779082302
NM_001005242.3(PKP2):c.1379-1_1556+1del rs2137829787
NM_001005242.3(PKP2):c.1379-2047_1379-2043del rs775995156
NM_001005242.3(PKP2):c.1379-2075_1379-2074dup
NM_001005242.3(PKP2):c.1379-2091A>T
NM_001005242.3(PKP2):c.1388G>A (p.Trp463Ter) rs2137831087
NM_001005242.3(PKP2):c.1389G>A (p.Trp463Ter)
NM_001005242.3(PKP2):c.1399_1408del (p.Ser467fs) rs794729125
NM_001005242.3(PKP2):c.1410del (p.Lys470fs) rs1565586958
NM_001005242.3(PKP2):c.1434dup (p.Ala479fs) rs1565586921
NM_001005242.3(PKP2):c.1439del (p.Leu480fs)
NM_001005242.3(PKP2):c.1447del (p.Thr482_Leu483insTer) rs794729126
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs) rs930283260
NM_001005242.3(PKP2):c.1482G>A (p.Trp494Ter) rs397517001
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.148_151dup (p.Val51fs)
NM_001005242.3(PKP2):c.1491del (p.Asp498fs)
NM_001005242.3(PKP2):c.1498_1499insTT (p.Pro500fs) rs1318070848
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001005242.3(PKP2):c.152_153del (p.Val51fs) rs1957127435
NM_001005242.3(PKP2):c.1532del (p.Phe511fs) rs794729127
NM_001005242.3(PKP2):c.1542_1549del (p.Thr515fs) rs1064796069
NM_001005242.3(PKP2):c.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.1557-2A>G rs1555143143
NM_001005242.3(PKP2):c.1593_1596dup (p.Arg533fs) rs1555143134
NM_001005242.3(PKP2):c.1616_1623dup (p.Val543fs) rs2137783366
NM_001005242.3(PKP2):c.1625del (p.Leu542fs) rs1060501182
NM_001005242.3(PKP2):c.1627del (p.Val543fs) rs397517008
NM_001005242.3(PKP2):c.1667del (p.Asp556fs) rs794729128
NM_001005242.3(PKP2):c.1673del (p.Lys558fs)
NM_001005242.3(PKP2):c.1680_1681delinsTT (p.Glu561Ter)
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.1697_1728del (p.Ile566fs)
NM_001005242.3(PKP2):c.1712C>T (p.Ser571Phe) rs1060501186
NM_001005242.3(PKP2):c.1716C>G (p.Tyr572Ter)
NM_001005242.3(PKP2):c.1717C>T (p.Gln573Ter) rs201405287
NM_001005242.3(PKP2):c.172G>T (p.Glu58Ter)
NM_001005242.3(PKP2):c.1738G>T (p.Glu580Ter) rs1956391770
NM_001005242.3(PKP2):c.173dup (p.Gln59fs)
NM_001005242.3(PKP2):c.1742_1743del (p.Lys581fs)
NM_001005242.3(PKP2):c.1750C>T (p.Gln584Ter) rs2137777670
NM_001005242.3(PKP2):c.1755del (p.Asn585fs) rs2137777604
NM_001005242.3(PKP2):c.1757del (p.Ile586fs)
NM_001005242.3(PKP2):c.175C>T (p.Gln59Ter) rs1957126844
NM_001005242.3(PKP2):c.1769del (p.Asn590fs) rs1064793231
NM_001005242.3(PKP2):c.1771del (p.Arg591fs) rs1555142984
NM_001005242.3(PKP2):c.1788_1789del (p.Asp596fs)
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs) rs397517013
NM_001005242.3(PKP2):c.1842dup (p.Tyr615fs) rs1956378850
NM_001005242.3(PKP2):c.1867G>T (p.Glu623Ter) rs397517015
NM_001005242.3(PKP2):c.1881del (p.Lys628fs) rs764817683
NM_001005242.3(PKP2):c.1883del (p.Lys628fs)
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter) rs193922673
NM_001005242.3(PKP2):c.1901G>A (p.Trp634Ter)
NM_001005242.3(PKP2):c.1904del (p.His635fs) rs2137773640
NM_001005242.3(PKP2):c.190dup (p.Leu64fs) rs762288961
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter) rs1444213066
NM_001005242.3(PKP2):c.1949_1951delinsATCGCCAAAA (p.Val650fs) rs1064792929
NM_001005242.3(PKP2):c.1963C>T (p.Gln655Ter)
NM_001005242.3(PKP2):c.1968del (p.Ala657fs) rs1956374971
NM_001005242.3(PKP2):c.198del (p.Lys67fs) rs1555149952
NM_001005242.3(PKP2):c.1A>G (p.Met1Val) rs794729107
NM_001005242.3(PKP2):c.2013+2T>C
NM_001005242.3(PKP2):c.2014-1_2014del
NM_001005242.3(PKP2):c.2044C>T (p.Gln682Ter) rs1325285497
NM_001005242.3(PKP2):c.2047A>T (p.Lys683Ter) rs1956192249
NM_001005242.3(PKP2):c.2062C>T (p.Gln688Ter) rs1956192035
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2066_2070del (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2066_2071delinsG (p.His689fs) rs878854710
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2148_2149del (p.Leu718fs) rs1592729525
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.218dup (p.Asn74fs) rs1257456477
NM_001005242.3(PKP2):c.2202_2206delinsCAGT (p.Pro735fs) rs397517022
NM_001005242.3(PKP2):c.224-1639_274del
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) rs794729098
NM_001005242.3(PKP2):c.2276del (p.Ile759fs) rs1956120988
NM_001005242.3(PKP2):c.2282del (p.Asn761fs) rs1956120794
NM_001005242.3(PKP2):c.2357+1G>T rs111517471
NM_001005242.3(PKP2):c.2359_2366del (p.Tyr787fs)
NM_001005242.3(PKP2):c.2361T>A (p.Tyr787Ter)
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.2404del (p.Ser802fs)
NM_001005242.3(PKP2):c.2408_2411del (p.Leu803fs) rs2137698036
NM_001005242.3(PKP2):c.2422del (p.Glu808fs) rs1353074803
NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter) rs2137953226
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_001005242.3(PKP2):c.256dup (p.Tyr86fs) rs794729120
NM_001005242.3(PKP2):c.273_277del (p.His91_Leu92insTer) rs1555148259
NM_001005242.3(PKP2):c.275T>A (p.Leu92Ter) rs763639737
NM_001005242.3(PKP2):c.296_300dup (p.Arg101fs) rs2137952811
NM_001005242.3(PKP2):c.308_309del (p.Pro103fs)
NM_001005242.3(PKP2):c.329dup (p.Met110fs) rs2137952495
NM_001005242.3(PKP2):c.336+1G>T rs2137952423
NM_001005242.3(PKP2):c.337-2A>T rs786204389
NM_001005242.3(PKP2):c.357T>G (p.Tyr119Ter)
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_001005242.3(PKP2):c.371del (p.Gly124fs)
NM_001005242.3(PKP2):c.379dup (p.Thr127fs) rs2137950985
NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter) rs794729132
NM_001005242.3(PKP2):c.409del (p.Glu137fs)
NM_001005242.3(PKP2):c.464dup (p.Ser155fs) rs2137950376
NM_001005242.3(PKP2):c.472_473del (p.Arg158fs) rs2137950267
NM_001005242.3(PKP2):c.499C>T (p.Gln167Ter) rs1565599473
NM_001005242.3(PKP2):c.517C>T (p.Gln173Ter) rs794729103
NM_001005242.3(PKP2):c.544del (p.Glu182fs)
NM_001005242.3(PKP2):c.582T>A (p.Tyr194Ter) rs532048791
NM_001005242.3(PKP2):c.582T>G (p.Tyr194Ter) rs532048791
NM_001005242.3(PKP2):c.604dup (p.Val202fs)
NM_001005242.3(PKP2):c.623del (p.Thr208fs) rs794729122
NM_001005242.3(PKP2):c.654_655del (p.His218fs) rs1591828796
NM_001005242.3(PKP2):c.654_679dup (p.Ser227fs)
NM_001005242.3(PKP2):c.658C>T (p.Gln220Ter) rs886041322
NM_001005242.3(PKP2):c.67G>T (p.Gly23Ter)
NM_001005242.3(PKP2):c.68del (p.Gly23fs) rs1555149975
NM_001005242.3(PKP2):c.704_708dup (p.Asn237fs)
NM_001005242.3(PKP2):c.759_769del (p.Asn254fs) rs2137948074
NM_001005242.3(PKP2):c.772A>T (p.Lys258Ter) rs727504430
NM_001005242.3(PKP2):c.775G>T (p.Glu259Ter) rs1425855043
NM_001005242.3(PKP2):c.808C>T (p.Gln270Ter)
NM_001005242.3(PKP2):c.861del (p.Arg287fs) rs2137947261
NM_001005242.3(PKP2):c.870G>A (p.Trp290Ter)
NM_001005242.3(PKP2):c.916_931del (p.Pro306fs)
NM_001005242.3(PKP2):c.921dup (p.Val308fs)
NM_001005242.3(PKP2):c.929_951dup (p.His318fs) rs1064792927
NM_001005242.3(PKP2):c.938del (p.Ser313fs) rs2137946556
NM_001005242.3(PKP2):c.951del (p.His318fs) rs1555148048
NM_001005242.3(PKP2):c.958_979del (p.Thr320fs)
NM_001005242.3(PKP2):c.962_965del (p.Val321fs) rs2137946218
NM_001005242.3(PKP2):c.963del (p.Gly322fs)
NM_001005242.3(PKP2):c.966_967del (p.Gln323fs) rs2137946195
NM_001005242.3(PKP2):c.968_971delinsGCT (p.Gln323fs) rs1555148035
NM_001005242.3(PKP2):c.986_992del (p.Ser329fs) rs1373300155
NM_001005242.3(PKP2):c.987del (p.Ser329fs) rs1432861552
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_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) rs1057518899
NM_001010874.5(TECRL):c.331+1G>A rs1057517699
NM_001010874.5(TECRL):c.918+3A>G rs958406908
NM_001012426.2(FOXP4):c.1540G>A (p.Ala514Thr) rs2127404974
NM_001013703.4(EIF2AK4):c.1153dup (p.Val385fs) rs775819448
NM_001013703.4(EIF2AK4):c.1243del (p.Tyr415fs)
NM_001013703.4(EIF2AK4):c.1387C>T (p.Arg463Ter) rs587777107
NM_001013703.4(EIF2AK4):c.1392del (p.Arg465fs) rs587777102
NM_001013703.4(EIF2AK4):c.145-2A>G rs1595539403
NM_001013703.4(EIF2AK4):c.1554-4C>A rs376877634
NM_001013703.4(EIF2AK4):c.1754G>A (p.Arg585Gln) rs587777106
NM_001013703.4(EIF2AK4):c.2319+1G>A rs1085307441
NM_001013703.4(EIF2AK4):c.2458C>T (p.Arg820Ter) rs774163084
NM_001013703.4(EIF2AK4):c.281dup (p.Asn94fs) rs1595541066
NM_001013703.4(EIF2AK4):c.2857C>T (p.Gln953Ter) rs759101551
NM_001013703.4(EIF2AK4):c.301G>T (p.Glu101Ter)
NM_001013703.4(EIF2AK4):c.3097C>T (p.Gln1033Ter) rs760842663
NM_001013703.4(EIF2AK4):c.3159G>A (p.Lys1053=) rs1085307442
NM_001013703.4(EIF2AK4):c.3244C>T (p.Gln1082Ter) rs1085307443
NM_001013703.4(EIF2AK4):c.354_355del (p.Cys118fs) rs1085307439
NM_001013703.4(EIF2AK4):c.3576+1G>T rs756902589
NM_001013703.4(EIF2AK4):c.3802C>T (p.Gln1268Ter) rs587777103
NM_001013703.4(EIF2AK4):c.4065+1G>C rs776140816
NM_001013703.4(EIF2AK4):c.4065+1G>T rs776140816
NM_001013703.4(EIF2AK4):c.4205dup (p.Ser1403fs) rs1085307444
NM_001013703.4(EIF2AK4):c.4418_4421del (p.Thr1473fs) rs745339673
NM_001013703.4(EIF2AK4):c.4728+1_4728+13delinsTTCT rs1085307445
NM_001013703.4(EIF2AK4):c.560_564del (p.Lys187fs) rs772487425
NM_001013703.4(EIF2AK4):c.567dup (p.Lys190fs) rs587777104
NM_001013703.4(EIF2AK4):c.860-1G>A rs886037661
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.188C>T (p.Ala63Val) rs199476306
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala) rs104894504
NM_001018005.2(TPM1):c.292G>A (p.Glu98Lys) rs730881131
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val) rs397516369
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001018005.2(TPM1):c.479G>A (p.Arg160His) rs199476311
NM_001018005.2(TPM1):c.533G>A (p.Arg178His) rs397516375
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.602C>T (p.Thr201Met) rs730881141
NM_001018005.2(TPM1):c.688G>A (p.Asp230Asn) rs199476317
NM_001018005.2(TPM1):c.725C>T (p.Ala242Val) rs397516387
NM_001018005.2(TPM1):c.742A>G (p.Lys248Glu) rs199476319
NM_001035.2(RYR2):c.(?_169)_(273_?)del (p.(?))
NM_001035.3(RYR2):c.10630_10652dup (p.Val3551_Leu3552insGlnArgArgArgTer)
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) rs1401116572
NM_001035.3(RYR2):c.11583G>T (p.Gln3861His)
NM_001035.3(RYR2):c.11623G>A (p.Val3875Ile) rs1060500137
NM_001035.3(RYR2):c.11814C>A (p.Ser3938Arg) rs794728704
NM_001035.3(RYR2):c.11836G>A (p.Gly3946Ser) rs794728777
NM_001035.3(RYR2):c.11837G>A (p.Gly3946Asp) rs1226397753
NM_001035.3(RYR2):c.11959G>C (p.Glu3987Gln) rs794728778
NM_001035.3(RYR2):c.11983A>C (p.Ile3995Leu) rs2149352030
NM_001035.3(RYR2):c.11989A>G (p.Lys3997Glu) rs1064794210
NM_001035.3(RYR2):c.1198G>A (p.Asp400Asn) rs1553454821
NM_001035.3(RYR2):c.1199A>C (p.Asp400Ala)
NM_001035.3(RYR2):c.12239A>G (p.Tyr4080Cys) rs794728781
NM_001035.3(RYR2):c.12269C>T (p.Pro4090Leu) rs2149353116
NM_001035.3(RYR2):c.12272C>T (p.Ala4091Val) rs794728783
NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys) rs121918599
NM_001035.3(RYR2):c.12322C>T (p.His4108Tyr)
NM_001035.3(RYR2):c.12372C>A (p.Ser4124Arg) rs771994461
NM_001035.3(RYR2):c.12424G>A (p.Ala4142Thr) rs761834154
NM_001035.3(RYR2):c.12446A>G (p.Tyr4149Cys) rs1234449785
NM_001035.3(RYR2):c.12464C>A (p.Ser4155Tyr) rs2149353940
NM_001035.3(RYR2):c.12470G>A (p.Arg4157Gln) rs794728786
NM_001035.3(RYR2):c.12475C>A (p.Gln4159Lys)
NM_001035.3(RYR2):c.12477G>T (p.Gln4159His) rs1558405653
NM_001035.3(RYR2):c.12521T>A (p.Phe4174Tyr)
NM_001035.3(RYR2):c.12533A>G (p.Asn4178Ser) rs794728787
NM_001035.3(RYR2):c.12587C>T (p.Thr4196Ile) rs2149354389
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) rs121918605
NM_001035.3(RYR2):c.12603G>T (p.Gln4201His) rs2149354441
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.13763T>C (p.Ile4588Thr) rs876661386
NM_001035.3(RYR2):c.13798T>C (p.Phe4600Leu) rs2149388042
NM_001035.3(RYR2):c.13823G>A (p.Arg4608Gln) rs1553328170
NM_001035.3(RYR2):c.13836T>G (p.Phe4612Leu) rs2149388137
NM_001035.3(RYR2):c.13937A>C (p.Asp4646Ala) rs1658967336
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe) rs121918604
NM_001035.3(RYR2):c.14020A>G (p.Lys4674Glu) rs2149404327
NM_001035.3(RYR2):c.14174A>G (p.Tyr4725Cys) rs2149437479
NM_001035.3(RYR2):c.14251A>G (p.Lys4751Glu) rs794728802
NM_001035.3(RYR2):c.14311G>A (p.Val4771Ile) rs794728804
NM_001035.3(RYR2):c.14473G>A (p.Gly4825Arg)
NM_001035.3(RYR2):c.14553C>A (p.Phe4851Leu) rs1291829047
NM_001035.3(RYR2):c.14569A>G (p.Ile4857Val) rs1085307524
NM_001035.3(RYR2):c.14579C>G (p.Ala4860Gly) rs121918606
NM_001035.3(RYR2):c.14586A>G (p.Ile4862Met) rs1558481148
NM_001035.3(RYR2):c.14590G>T (p.Gly4864Cys) rs1553339086
NM_001035.3(RYR2):c.14638G>A (p.Val4880Ile) rs2102926494
NM_001035.3(RYR2):c.14710G>A (p.Gly4904Ser) rs2102947297
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001035.3(RYR2):c.14777T>C (p.Ile4926Thr) rs1663793007
NM_001035.3(RYR2):c.14864G>A (p.Gly4955Glu) rs1553343100
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.14885A>G (p.Tyr4962Cys) rs794728832
NM_001035.3(RYR2):c.14897T>C (p.Leu4966Pro)
NM_001035.3(RYR2):c.169-198_273+820del
NM_001035.3(RYR2):c.1814G>T (p.Gly605Val)
NM_001035.3(RYR2):c.230C>T (p.Ala77Val) rs1060500142
NM_001035.3(RYR2):c.239A>G (p.Glu80Gly) rs794728706
NM_001035.3(RYR2):c.344A>G (p.Tyr115Cys) rs1558698334
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu) rs794728761
NM_001035.3(RYR2):c.490C>T (p.Pro164Ser)
NM_001035.3(RYR2):c.506G>A (p.Arg169Gln) rs397516539
NM_001035.3(RYR2):c.514G>A (p.Gly172Arg) rs1701129738
NM_001035.3(RYR2):c.5170G>A (p.Glu1724Lys) rs794728740
NM_001035.3(RYR2):c.527G>A (p.Arg176Gln) rs794728708
NM_001035.3(RYR2):c.567A>C (p.Glu189Asp)
NM_001035.3(RYR2):c.6202C>T (p.Arg2068Ter) rs1679845277
NM_001035.3(RYR2):c.6504C>A (p.His2168Gln) rs760237464
NM_001035.3(RYR2):c.6504C>G (p.His2168Gln) rs760237464
NM_001035.3(RYR2):c.6602G>A (p.Cys2201Tyr)
NM_001035.3(RYR2):c.6632A>C (p.Gln2211Pro)
NM_001035.3(RYR2):c.6646G>C (p.Asp2216His) rs1558103974
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) rs121918597
NM_001035.3(RYR2):c.6886G>A (p.Glu2296Lys) rs1060500156
NM_001035.3(RYR2):c.6900C>G (p.Asp2300Glu) rs2148724390
NM_001035.3(RYR2):c.6916G>A (p.Val2306Ile) rs794728746
NM_001035.3(RYR2):c.6933G>C (p.Glu2311Asp) rs794728747
NM_001035.3(RYR2):c.6982C>G (p.Pro2328Ala) rs121918603
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.7159G>A (p.Ala2387Thr) rs794728753
NM_001035.3(RYR2):c.7160C>T (p.Ala2387Val) rs794728754
NM_001035.3(RYR2):c.7175A>G (p.Tyr2392Cys)
NM_001035.3(RYR2):c.7202G>A (p.Arg2401His) rs794728756
NM_001035.3(RYR2):c.7213G>A (p.Glu2405Lys) rs2148739141
NM_001035.3(RYR2):c.7421G>A (p.Arg2474Lys) rs2148789775
NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser) rs121918598
NM_001035.3(RYR2):c.7580T>G (p.Leu2527Trp) rs1682561583
NM_001037.5(SCN1B):c.105del (p.Phe36fs)
NM_001037.5(SCN1B):c.178dup (p.Arg60fs)
NM_001037.5(SCN1B):c.1A>C (p.Met1Leu) rs1375857363
NM_001037.5(SCN1B):c.207+1G>A rs2064222084
NM_001037.5(SCN1B):c.253C>T (p.Arg85Cys) rs786205830
NM_001037.5(SCN1B):c.259G>C (p.Glu87Gln) rs121434627
NM_001037.5(SCN1B):c.2T>C (p.Met1Thr) rs2151745332
NM_001037.5(SCN1B):c.308A>T (p.Asp103Val) rs1057519457
NM_001037.5(SCN1B):c.312_315del (p.Ile106fs)
NM_001037.5(SCN1B):c.347del (p.Ser116fs) rs794727487
NM_001037.5(SCN1B):c.3G>A (p.Met1Ile)
NM_001037.5(SCN1B):c.448+89G>A rs267607029
NM_001037.5(SCN1B):c.472G>A (p.Val158Met) rs138450474
NM_001037.5(SCN1B):c.518G>A (p.Trp173Ter)
NM_001037.5(SCN1B):c.59dup (p.Cys21fs)
NM_001037.5(SCN1B):c.94_95insC (p.Tyr32fs)
NM_001040151.2(SCN3B):c.17G>A (p.Arg6Lys) rs587777558
NM_001040151.2(SCN3B):c.482T>C (p.Met161Thr) rs587777557
NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys) rs772470710
NM_001042475.3(CEP85L):c.1020+17310T>C rs920627366
NM_001064.4(TKT):c.633G>A (p.Trp211Ter) rs868953318
NM_001065.3(TNFRSF1A):c.463C>T (p.His155Tyr) rs886039866
NM_001065.4(TNFRSF1A):c.362_363insTGCAAGACACAG (p.Arg121_Asp122insAlaArgHisArg) rs1592047560
NM_001077415.3(CRELD1):c.1049-401C>A
NM_001077415.3(CRELD1):c.223T>C (p.Trp75Arg)
NM_001077415.3(CRELD1):c.587G>T (p.Gly196Val)
NM_001077415.3(CRELD1):c.863G>T (p.Arg288Leu)
NM_001077653.2(TBX20):c.363C>G (p.Ile121Met) rs267607106
NM_001077653.2(TBX20):c.583C>T (p.Gln195Ter) rs137852955
NM_001077653.2(TBX20):c.995del (p.Pro332fs) rs1554284604
NM_001079802.2(FKTN):c.1073A>C (p.Gln358Pro) rs119463993
NM_001079802.2(FKTN):c.1106del (p.Phe369fs) rs750176716
NM_001079802.2(FKTN):c.1167del (p.Lys389fs) rs398123555
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs) rs398123555
NM_001079802.2(FKTN):c.1176C>A (p.Tyr392Ter) rs1203741361
NM_001079802.2(FKTN):c.1270G>A (p.Gly424Ser) rs752358445
NM_001079802.2(FKTN):c.1363del (p.Asp455fs) rs587777814
NM_001079802.2(FKTN):c.165+1427A>G rs557096550
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr) rs119463995
NM_001079802.2(FKTN):c.411C>A (p.Cys137Ter) rs537001725
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser) rs119463996
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr) rs119463994
NM_001079802.2(FKTN):c.642dup (p.Asp215Ter) rs398123557
NM_001079802.2(FKTN):c.648-1243G>T rs1554754182
NM_001079802.2(FKTN):c.766C>T (p.Arg256Ter) rs377417974
NM_001079802.2(FKTN):c.78C>G (p.Tyr26Ter) rs369797361
NM_001079843.3(CASZ1):c.2443_2459del (p.Val815fs) rs2100221588
NM_001081560.3(DMPK):c.*224CTG[51_?]
NM_001081563.2(DMPK):c.*224_*283CTG[28]CCG[2]CTG[2]CCG[1]CTG[88]
NM_001081563.2(DMPK):c.*224_*283CTG[30]CCG[2]CTG[2]CCG[1]CTG[105]
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_001102416.3(KNG1):c.1136T>A (p.Met379Lys) rs765933558
NM_001102416.3(KNG1):c.1720C>G (p.Pro574Ala) rs1369253342
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.616-2A>G
NM_001103.4(ACTN2):c.683T>C (p.Met228Thr) rs786205144
NM_001110556.2(FLNA):c.1829-1G>C rs1603362402
NM_001110556.2(FLNA):c.1910C>A (p.Pro637Gln) rs267606815
NM_001110556.2(FLNA):c.2132T>A (p.Val711Asp) rs267606817
NM_001110556.2(FLNA):c.2280+266_2827-25delinsTG
NM_001110556.2(FLNA):c.4660G>A (p.Gly1554Arg) rs1603360542
NM_001110556.2(FLNA):c.5395delinsTTG (p.Ile1799fs)
NM_001110556.2(FLNA):c.691C>T (p.Gln231Ter)
NM_001110556.2(FLNA):c.7205_7208dup (p.Asp2403_Val2404insTer)
NM_001110556.2(FLNA):c.7671del (p.Ser2558fs) rs2148100379
NM_001110556.2(FLNA):c.862G>A (p.Gly288Arg) rs267606816
NM_001110556.2(FLNA):c.885_892del (p.Asn296fs) rs886038987
NM_001114753.3(ENG):c.-127C>T rs1060501408
NM_001114753.3(ENG):c.-8_8del (p.Met1fs) rs1588604603
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)
NM_001114753.3(ENG):c.1015_1024del (p.Ala339fs) rs1554810066
NM_001114753.3(ENG):c.1024C>T (p.Gln342Ter) rs774429348
NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) rs1064792934
NM_001114753.3(ENG):c.1042del (p.Asp348fs) rs2131885976
NM_001114753.3(ENG):c.1051_1052del (p.Ser351fs)
NM_001114753.3(ENG):c.1076dup (p.Gln360fs) rs2131885883
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs) rs1554810051
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg) rs2131885848
NM_001114753.3(ENG):c.1087T>G (p.Cys363Gly)
NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser) rs1588580782
NM_001114753.3(ENG):c.1111dup (p.Val371fs) rs1554810041
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs) rs1064793734
NM_001114753.3(ENG):c.1124_1125del (p.Glu375fs) rs1554810037
NM_001114753.3(ENG):c.1134+1G>A rs112809381
NM_001114753.3(ENG):c.1134G>C (p.Ala378=) rs1329127701
NM_001114753.3(ENG):c.1139del (p.His379_Leu380insTer) rs2131879372
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) rs1131691931
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter) rs1564453619
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter)
NM_001114753.3(ENG):c.1175_1176del (p.Pro392fs)
NM_001114753.3(ENG):c.1176del (p.Ser393fs)
NM_001114753.3(ENG):c.1180T>C (p.Cys394Arg)
NM_001114753.3(ENG):c.1183G>T (p.Glu395Ter) rs1830434079
NM_001114753.3(ENG):c.1195_1196del (p.Arg399fs) rs1131691422
NM_001114753.3(ENG):c.1195del (p.Arg399fs) rs1131691444
NM_001114753.3(ENG):c.1199del (p.Gly400fs) rs1060501422
NM_001114753.3(ENG):c.119del (p.Gly40fs) rs369596004
NM_001114753.3(ENG):c.1209dup (p.Val404fs) rs2131879220
NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr) rs1554809513
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter) rs1830432773
NM_001114753.3(ENG):c.1236_1687-77del
NM_001114753.3(ENG):c.1238G>T (p.Gly413Val) rs121918401
NM_001114753.3(ENG):c.1238del (p.Gly413fs) rs1830432717
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys) rs1830432509
NM_001114753.3(ENG):c.1243C>T (p.Gln415Ter) rs1343053876
NM_001114753.3(ENG):c.1247dup (p.Ser417fs) rs1588576923
NM_001114753.3(ENG):c.1268del (p.Asn423fs) rs1564453538
NM_001114753.3(ENG):c.1270dup (p.Glu424fs)
NM_001114753.3(ENG):c.1272+2T>C rs1830431391
NM_001114753.3(ENG):c.1273-2A>G rs373842615
NM_001114753.3(ENG):c.1273-2A>T rs373842615
NM_001114753.3(ENG):c.1276_1279delinsATAAA (p.Val426fs) rs1830425406
NM_001114753.3(ENG):c.1286dup (p.Leu430fs) rs1554809455
NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter) rs761353511
NM_001114753.3(ENG):c.1301C>G (p.Ser434Ter)
NM_001114753.3(ENG):c.1311+1G>A
NM_001114753.3(ENG):c.1311+1dup rs1554809446
NM_001114753.3(ENG):c.1311+2T>A
NM_001114753.3(ENG):c.1311+2T>C
NM_001114753.3(ENG):c.1311G>A (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1311G>C (p.Arg437=) rs1554809448
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter) rs863223536
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) rs1554809363
NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter) rs1554809361
NM_001114753.3(ENG):c.1327del (p.Leu443fs) rs1060501413
NM_001114753.3(ENG):c.132_133del (p.Thr45fs) rs2131918640
NM_001114753.3(ENG):c.1333dup (p.Met445fs) rs1830399696
NM_001114753.3(ENG):c.1334del (p.Met445fs) rs1085307432
NM_001114753.3(ENG):c.1346_1347del (p.Ser449fs) rs1564453019
NM_001114753.3(ENG):c.1347_1350del (p.Phe450fs) rs2131877041
NM_001114753.3(ENG):c.1351C>T (p.Gln451Ter) rs1554809355
NM_001114753.3(ENG):c.1358del (p.Gly453fs)
NM_001114753.3(ENG):c.1363_1364insC (p.Tyr455fs) rs1064793889
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter) rs774943840
NM_001114753.3(ENG):c.1369dup (p.Ser457fs)
NM_001114753.3(ENG):c.1381_1384del (p.Leu461fs)
NM_001114753.3(ENG):c.1384C>T (p.Gln462Ter) rs1830397703
NM_001114753.3(ENG):c.1394dup (p.Asn465fs) rs1554809348
NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)
NM_001114753.3(ENG):c.1410del (p.Gln471fs) rs1085307433
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter) rs1830395639
NM_001114753.3(ENG):c.1414C>T (p.Gln472Ter)
NM_001114753.3(ENG):c.1415_1417delinsGT (p.Gln472fs) rs1554809331
NM_001114753.3(ENG):c.1415_1424del (p.Gln472fs) rs1060501412
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter) rs965119099
NM_001114753.3(ENG):c.1428+1G>A rs863223542
NM_001114753.3(ENG):c.1428+2T>A rs863223543
NM_001114753.3(ENG):c.1428+2T>C rs863223543
NM_001114753.3(ENG):c.1429-1G>A rs2131876244
NM_001114753.3(ENG):c.1429-1G>C rs2131876244
NM_001114753.3(ENG):c.1429-2A>G rs1564452759
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter) rs1831082433
NM_001114753.3(ENG):c.1434_1435del (p.Arg478fs) rs1564452747
NM_001114753.3(ENG):c.1437_1456dup (p.Phe486fs) rs1830385549
NM_001114753.3(ENG):c.1450_1451del (p.Ser484fs) rs1830385865
NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter) rs997074986
NM_001114753.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) rs1057521648
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser) rs763475207
NM_001114753.3(ENG):c.146del (p.Val49fs) rs1831082309
NM_001114753.3(ENG):c.1470dup (p.Asp491fs) rs1830385077
NM_001114753.3(ENG):c.1472_1475del (p.Asp491fs) rs1830384910
NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter) rs1830384447
NM_001114753.3(ENG):c.1490dup (p.Leu497fs) rs1830384514
NM_001114753.3(ENG):c.149C>A (p.Ser50Ter) rs927607049
NM_001114753.3(ENG):c.1509del (p.Val504fs) rs1564452685
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter) rs1830383454
NM_001114753.3(ENG):c.1515del (p.Glu505fs)
NM_001114753.3(ENG):c.1515dup (p.Leu506fs) rs1564452667
NM_001114753.3(ENG):c.1531del (p.Ala511fs) rs2131875912
NM_001114753.3(ENG):c.1541del (p.Gly514fs) rs1554809268
NM_001114753.3(ENG):c.1550_1551del (p.Val517fs) rs863223541
NM_001114753.3(ENG):c.1553_1554del (p.Ser518fs) rs2131875838
NM_001114753.3(ENG):c.1554_1555del (p.Leu519fs) rs886041325
NM_001114753.3(ENG):c.1572del (p.Glu525fs) rs2131875783
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)
NM_001114753.3(ENG):c.1582_1583del (p.Pro528fs) rs1554809253
NM_001114753.3(ENG):c.1583dup (p.Arg529fs)
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter) rs148475405
NM_001114753.3(ENG):c.1614_1615del (p.Val539fs) rs2131875686
NM_001114753.3(ENG):c.1618_1627del (p.Pro540fs)
NM_001114753.3(ENG):c.1626del (p.Thr544fs) rs1830377451
NM_001114753.3(ENG):c.1626dup (p.Lys543fs) rs1830377451
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) rs1830376644
NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr) rs1060501421
NM_001114753.3(ENG):c.164del (p.Ala55fs) rs1831081460
NM_001114753.3(ENG):c.1657del (p.Leu553fs) rs1064794218
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter) rs1588596879
NM_001114753.3(ENG):c.1672_1684del (p.Gly558fs) rs1554809229
NM_001114753.3(ENG):c.1675del (p.Ser559fs) rs1830375325
NM_001114753.3(ENG):c.1675dup (p.Ser559fs) rs2131875524
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter) rs1830375228
NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter) rs1588574749
NM_001114753.3(ENG):c.1686+1G>A rs1554809228
NM_001114753.3(ENG):c.1686+1G>T rs1554809228
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001114753.3(ENG):c.1687-1G>T rs1554809106
NM_001114753.3(ENG):c.1687-2A>G rs2131873933
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter) rs2131873923
NM_001114753.3(ENG):c.1695del (p.His565fs) rs1830345505
NM_001114753.3(ENG):c.1698del (p.Thr567fs) rs1830345215
NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter) rs863223539
NM_001114753.3(ENG):c.1733_1737del (p.Asp578fs)
NM_001114753.3(ENG):c.1742-22T>C rs1085307434
NM_001114753.3(ENG):c.1804del (p.Ile602fs) rs1085307435
NM_001114753.3(ENG):c.1853G>T (p.Arg618Leu) rs1085307436
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter) rs1588596830
NM_001114753.3(ENG):c.1A>C (p.Met1Leu) rs1060501418
NM_001114753.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_001114753.3(ENG):c.208G>T (p.Glu70Ter) rs1179814153
NM_001114753.3(ENG):c.218_219insTCCA (p.Gly74fs)
NM_001114753.3(ENG):c.219+1G>A rs1554812253
NM_001114753.3(ENG):c.219+2T>C rs2131918332
NM_001114753.3(ENG):c.219+4_219+7del
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.220-1G>A rs1554810936
NM_001114753.3(ENG):c.220-225_991+123del
NM_001114753.3(ENG):c.220-226_1134+331del
NM_001114753.3(ENG):c.220-988_1134+331del
NM_001114753.3(ENG):c.224del (p.Pro75fs) rs1554810932
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter) rs1588585997
NM_001114753.3(ENG):c.229del (p.Gln77fs) rs1554810928
NM_001114753.3(ENG):c.233dup (p.Glu79fs)
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter) rs763992842
NM_001114753.3(ENG):c.239del (p.Leu80fs)
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro) rs1564466414
NM_001114753.3(ENG):c.244del (p.Leu82fs) rs1554810921
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_001114753.3(ENG):c.268_274del (p.Thr90fs)
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.277dup (p.Arg93fs) rs1830717066
NM_001114753.3(ENG):c.278del (p.Arg93fs)
NM_001114753.3(ENG):c.280G>T (p.Glu94Ter) rs1588585941
NM_001114753.3(ENG):c.290T>G (p.Leu97Arg) rs2131895129
NM_001114753.3(ENG):c.298_299del (p.Ser100fs) rs1830715784
NM_001114753.3(ENG):c.2T>C (p.Met1Thr) rs267606783
NM_001114753.3(ENG):c.2T>G (p.Met1Arg) rs267606783
NM_001114753.3(ENG):c.314T>A (p.Val105Asp) rs1588585880
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter) rs1830713927
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.360+1G>C rs886039505
NM_001114753.3(ENG):c.360+1G>T rs886039505
NM_001114753.3(ENG):c.360+2T>C
NM_001114753.3(ENG):c.360+4A>G rs1564457752
NM_001114753.3(ENG):c.360+5G>A rs1060501417
NM_001114753.3(ENG):c.360+5G>C rs1060501417
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter) rs121918402
NM_001114753.3(ENG):c.361-2A>T
NM_001114753.3(ENG):c.361-36_370del rs2131890746
NM_001114753.3(ENG):c.370del (p.Leu124fs) rs1830624241
NM_001114753.3(ENG):c.375_378dup (p.Phe127fs) rs2131890702
NM_001114753.3(ENG):c.392del (p.Pro131fs) rs1554810510
NM_001114753.3(ENG):c.392dup (p.Val133fs)
NM_001114753.3(ENG):c.397del (p.Val133fs) rs1588583640
NM_001114753.3(ENG):c.397dup (p.Val133fs) rs1588583640
NM_001114753.3(ENG):c.39del (p.Leu14fs) rs1829096531
NM_001114753.3(ENG):c.3G>A (p.Met1Ile)
NM_001114753.3(ENG):c.405dup (p.Thr136fs) rs2131890631
NM_001114753.3(ENG):c.41T>C (p.Leu14Pro) rs1554813788
NM_001114753.3(ENG):c.41_51dup (p.Ser18fs)
NM_001114753.3(ENG):c.41del (p.Leu14fs)
NM_001114753.3(ENG):c.437del (p.Ile146fs)
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.457_458del (p.Arg153fs) rs2131890509
NM_001114753.3(ENG):c.461dup (p.Ile156fs) rs1830620889
NM_001114753.3(ENG):c.463_486del (p.Pro155_Leu162del)
NM_001114753.3(ENG):c.465dup (p.Ile156fs) rs2131890499
NM_001114753.3(ENG):c.468del (p.Thr157fs) rs1830620832
NM_001114753.3(ENG):c.478dup (p.Ala160fs)
NM_001114753.3(ENG):c.488_491del (p.Asn163fs) rs1588583530
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu) rs1830620321
NM_001114753.3(ENG):c.496del (p.Gln166fs) rs1830620247
NM_001114753.3(ENG):c.496dup (p.Gln166fs) rs1830620247
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_001114753.3(ENG):c.523+1G>A rs113930974
NM_001114753.3(ENG):c.523+1G>C rs113930974
NM_001114753.3(ENG):c.523+229_991+123del
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser) rs1588583488
NM_001114753.3(ENG):c.524-1G>A rs2131889572
NM_001114753.3(ENG):c.524-1_689+1del rs1830595697
NM_001114753.3(ENG):c.527del (p.Gln176fs) rs1830603743
NM_001114753.3(ENG):c.558del (p.Ser187fs) rs2131889490
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
NM_001114753.3(ENG):c.562dup (p.Gln188fs) rs1588582962
NM_001114753.3(ENG):c.569T>A (p.Met190Lys) rs1830602163
NM_001114753.3(ENG):c.571_573delinsTG (p.Gly191fs) rs1830601919
NM_001114753.3(ENG):c.572del (p.Gly191fs) rs1564456374
NM_001114753.3(ENG):c.577_588delinsGT (p.Thr193fs) rs1830601036
NM_001114753.3(ENG):c.579_580del (p.Leu194fs)
NM_001114753.3(ENG):c.580_596del (p.Leu194fs) rs2131889284
NM_001114753.3(ENG):c.581_605del (p.Leu194fs)
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg) rs2131889336
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter) rs1588582870
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter) rs1588582860
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs) rs1554810405
NM_001114753.3(ENG):c.595dup (p.Arg199fs)
NM_001114753.3(ENG):c.600_603dup (p.Ala202fs) rs1830599875
NM_001114753.3(ENG):c.613dup (p.Arg205fs)
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)
NM_001114753.3(ENG):c.617del (p.Gly206fs) rs1830599423
NM_001114753.3(ENG):c.621C>A (p.Cys207Ter) rs1440769928
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter) rs1243079862
NM_001114753.3(ENG):c.635_654del (p.Val212fs)
NM_001114753.3(ENG):c.63del (p.Thr22fs)
NM_001114753.3(ENG):c.63dup (p.Thr22fs) rs1829096099
NM_001114753.3(ENG):c.640_643del (p.Gly214fs) rs864622666
NM_001114753.3(ENG):c.654_655del (p.Ile220fs) rs2131889054
NM_001114753.3(ENG):c.657_658del (p.Ile220fs) rs2131889044
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr) rs1588582695
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001114753.3(ENG):c.662T>G (p.Leu221Arg) rs1554810378
NM_001114753.3(ENG):c.667del (p.Val223fs) rs1588582666
NM_001114753.3(ENG):c.667dup (p.Val223fs) rs1588582666
NM_001114753.3(ENG):c.67+1G>A rs1554813783
NM_001114753.3(ENG):c.67+2T>C rs2131936480
NM_001114753.3(ENG):c.674del (p.Pro225fs) rs1830596596
NM_001114753.3(ENG):c.67del (p.Ser23fs) rs878853658
NM_001114753.3(ENG):c.68-18C>A rs372807542
NM_001114753.3(ENG):c.68-1G>A rs878853659
NM_001114753.3(ENG):c.68-2A>T
NM_001114753.3(ENG):c.68-3C>G rs773334730
NM_001114753.3(ENG):c.68-4227_219+104del
NM_001114753.3(ENG):c.682_686del (p.Ser228fs) rs1085307430
NM_001114753.3(ENG):c.683C>A (p.Ser228Ter) rs1452543778
NM_001114753.3(ENG):c.689+1G>A rs1588582594
NM_001114753.3(ENG):c.689+1G>T
NM_001114753.3(ENG):c.689+2T>A rs863223535
NM_001114753.3(ENG):c.690-1G>A rs1554810272
NM_001114753.3(ENG):c.690-1G>C rs1554810272
NM_001114753.3(ENG):c.690-2A>G rs1564455970
NM_001114753.3(ENG):c.690-2A>T rs1564455970
NM_001114753.3(ENG):c.698CGGTGA[1] (p.233TV[1]) rs1588582060
NM_001114753.3(ENG):c.706_708del (p.Val236del) rs1064794221
NM_001114753.3(ENG):c.707T>A (p.Val236Glu) rs1588582073
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter) rs1064794220
NM_001114753.3(ENG):c.715dup (p.Glu239fs) rs1554810257
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.736del (p.Asp246fs) rs1554810249
NM_001114753.3(ENG):c.743del (p.Asp248fs) rs1588581961
NM_001114753.3(ENG):c.752_768del (p.Leu251fs) rs1830580547
NM_001114753.3(ENG):c.753_781del (p.Ile252fs) rs1588581867
NM_001114753.3(ENG):c.754_756del (p.Ile252del)
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr) rs2131887851
NM_001114753.3(ENG):c.761_767dup (p.Pro257fs) rs1830580607
NM_001114753.3(ENG):c.765del (p.Tyr258fs) rs1554810232
NM_001114753.3(ENG):c.766_776del (p.Pro256fs) rs1830579764
NM_001114753.3(ENG):c.767_786del (p.Pro256fs) rs2131887701
NM_001114753.3(ENG):c.770_771del (p.Pro257fs) rs1588581902
NM_001114753.3(ENG):c.771del (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.771dup (p.Tyr258fs) rs1588581902
NM_001114753.3(ENG):c.772del (p.Tyr258fs) rs1830580093
NM_001114753.3(ENG):c.773_776delinsGCAGGGTC (p.Tyr258fs)
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter) rs537154767
NM_001114753.3(ENG):c.774C>G (p.Tyr258Ter) rs537154767
NM_001114753.3(ENG):c.776del (p.Val259fs) rs1588581880
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs) rs1830579577
NM_001114753.3(ENG):c.778dup (p.Ser260fs) rs2131887737
NM_001114753.3(ENG):c.782G>A (p.Trp261Ter) rs1060501420
NM_001114753.3(ENG):c.787_789del (p.Ile263del) rs1830579035
NM_001114753.3(ENG):c.788T>A (p.Ile263Asn) rs1085307431
NM_001114753.3(ENG):c.806T>A (p.Met269Lys) rs752331196
NM_001114753.3(ENG):c.806T>G (p.Met269Arg) rs752331196
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter) rs1588581785
NM_001114753.3(ENG):c.816+2T>C
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter) rs886041326
NM_001114753.3(ENG):c.817-1G>A rs1564455715
NM_001114753.3(ENG):c.817-1G>C rs1564455715
NM_001114753.3(ENG):c.828del (p.Glu276fs)
NM_001114753.3(ENG):c.831C>A (p.Tyr277Ter) rs121918400
NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter) rs121918400
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)
NM_001114753.3(ENG):c.836del (p.Phe279fs) rs2131887155
NM_001114753.3(ENG):c.838A>T (p.Lys280Ter) rs1588581497
NM_001114753.3(ENG):c.851del (p.Glu284fs) rs2131887114
NM_001114753.3(ENG):c.863_867dup (p.Phe290fs) rs2131887087
NM_001114753.3(ENG):c.872_874delinsT (p.Lys291fs)
NM_001114753.3(ENG):c.875dup (p.Asp294fs)
NM_001114753.3(ENG):c.880_881del (p.Asp294fs) rs886042916
NM_001114753.3(ENG):c.882_920del (p.Thr295_Asn307del) rs2131886961
NM_001114753.3(ENG):c.885_886del (p.Pro296fs)
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs) rs1830569401
NM_001114753.3(ENG):c.8G>A (p.Arg3His) rs1588604597
NM_001114753.3(ENG):c.904G>T (p.Glu302Ter) rs1060501419
NM_001114753.3(ENG):c.904dup (p.Glu302fs) rs1554810177
NM_001114753.3(ENG):c.911_918del (p.Arg304fs) rs1564455604
NM_001114753.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_001114753.3(ENG):c.922dup (p.Ala308fs) rs2131886942
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp) rs1482440395
NM_001114753.3(ENG):c.924_927dup (p.Ile310fs)
NM_001114753.3(ENG):c.932T>G (p.Val311Gly)
NM_001114753.3(ENG):c.934del (p.Ala312fs) rs2131886908
NM_001114753.3(ENG):c.944_945del (p.Val315fs)
NM_001114753.3(ENG):c.955_956insGAAGACAA (p.Leu319fs)
NM_001114753.3(ENG):c.95T>A (p.Leu32His)
NM_001114753.3(ENG):c.965_966del (p.Ile322fs)
NM_001114753.3(ENG):c.966dup (p.Val323fs)
NM_001114753.3(ENG):c.967_968del (p.Val323fs) rs1830566817
NM_001114753.3(ENG):c.973dup (p.Leu325fs)
NM_001114753.3(ENG):c.983_984delinsAG (p.Ser328Ter) rs1588581338
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)
NM_001114753.3(ENG):c.991+1del
NM_001114753.3(ENG):c.991+2T>C rs1564455554
NM_001114753.3(ENG):c.991+2T>G rs1564455554
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001114753.3(ENG):c.992-2A>G rs1588580932
NM_001114753.3(ENG):c.996_997dup (p.Arg333fs) rs2131886094
NM_001114753.3(ENG):c.997_1001del (p.Arg333fs)
NM_001118887.2(ANGPT2):c.1301G>C (p.Cys434Ser) rs2129565840
NM_001118887.2(ANGPT2):c.893C>T (p.Thr298Met) rs61733318
NM_001122630.2(CDKN1C):c.*5+2T>C rs587777866
NM_001122630.2(CDKN1C):c.100G>T (p.Glu34Ter)
NM_001122630.2(CDKN1C):c.106C>T (p.Gln36Ter) rs137852766
NM_001122630.2(CDKN1C):c.132del (p.Glu45fs) rs2133786067
NM_001122630.2(CDKN1C):c.133G>T (p.Glu45Ter) rs1848974871
NM_001122630.2(CDKN1C):c.156_157insTTCCAGCTGG (p.Asp53fs) rs1554938197
NM_001122630.2(CDKN1C):c.161_164del (p.Phe54fs)
NM_001122630.2(CDKN1C):c.163C>T (p.Gln55Ter)
NM_001122630.2(CDKN1C):c.163del (p.Gln55fs) rs1554938194
NM_001122630.2(CDKN1C):c.174dup (p.Pro59fs) rs2133785873
NM_001122630.2(CDKN1C):c.176C>T (p.Pro59Leu) rs483352970
NM_001122630.2(CDKN1C):c.185dup (p.Gly64fs)
NM_001122630.2(CDKN1C):c.193_200dup (p.Gln67fs) rs2133785723
NM_001122630.2(CDKN1C):c.199C>T (p.Gln67Ter) rs2133785734
NM_001122630.2(CDKN1C):c.203G>A (p.Trp68Ter) rs1379762772
NM_001122630.2(CDKN1C):c.204G>A (p.Trp68Ter) rs2133785693
NM_001122630.2(CDKN1C):c.205del (p.Thr69fs) rs2133785682
NM_001122630.2(CDKN1C):c.224C>A (p.Ser75Ter)
NM_001122630.2(CDKN1C):c.244G>T (p.Glu82Ter) rs2133785530
NM_001122630.2(CDKN1C):c.261dup (p.Arg88fs)
NM_001122630.2(CDKN1C):c.277_278delinsG (p.Leu93fs) rs387906399
NM_001122630.2(CDKN1C):c.278_279insAGCA (p.Pro95fs) rs1848966851
NM_001122630.2(CDKN1C):c.283_300delinsG (p.Pro95fs) rs1848965153
NM_001122630.2(CDKN1C):c.296del (p.Ala99fs)
NM_001122630.2(CDKN1C):c.300dup (p.Ala101fs) rs786205235
NM_001122630.2(CDKN1C):c.325G>T (p.Glu109Ter) rs1220263188
NM_001122630.2(CDKN1C):c.347del (p.Asp116fs)
NM_001122630.2(CDKN1C):c.351_358del (p.Leu118fs) rs1554938087
NM_001122630.2(CDKN1C):c.354del (p.Glu119fs) rs1590150660
NM_001122630.2(CDKN1C):c.355G>T (p.Glu119Ter) rs1564930265
NM_001122630.2(CDKN1C):c.35_50del (p.Val12fs)
NM_001122630.2(CDKN1C):c.367dup (p.Glu123fs) rs786205236
NM_001122630.2(CDKN1C):c.388del (p.Val130fs)
NM_001122630.2(CDKN1C):c.399_415del (p.Ala134fs) rs2133784715
NM_001122630.2(CDKN1C):c.410del (p.Pro137fs) rs2133784748
NM_001122630.2(CDKN1C):c.416del (p.Pro139fs) rs786205234
NM_001122630.2(CDKN1C):c.416dup (p.Val140fs)
NM_001122630.2(CDKN1C):c.417_420del (p.Val140fs) rs1848953740
NM_001122630.2(CDKN1C):c.41_44del (p.Val14fs)
NM_001122630.2(CDKN1C):c.421_422insA (p.Pro141fs) rs2133784672
NM_001122630.2(CDKN1C):c.512del (p.Pro171fs)
NM_001122630.2(CDKN1C):c.542del (p.Pro181fs)
NM_001122630.2(CDKN1C):c.55dup (p.Cys19fs)
NM_001122630.2(CDKN1C):c.572dup (p.Ala192fs)
NM_001122630.2(CDKN1C):c.574_598dup (p.Ala200fs) rs1848931980
NM_001122630.2(CDKN1C):c.578_602dup (p.Ala202fs) rs1554937847
NM_001122630.2(CDKN1C):c.578del (p.Pro193fs) rs2133783249
NM_001122630.2(CDKN1C):c.57C>A (p.Cys19Ter) rs759365577
NM_001122630.2(CDKN1C):c.596_597insGCTCCGGCCCC (p.Ala200fs) rs786205241
NM_001122630.2(CDKN1C):c.598delinsAA (p.Ala200fs) rs786205239
NM_001122630.2(CDKN1C):c.599CCCCGG[4] (p.186AP[11]) rs772704243
NM_001122630.2(CDKN1C):c.599_609del (p.Ala200fs) rs1848930692
NM_001122630.2(CDKN1C):c.602del (p.Pro201fs) rs786205237
NM_001122630.2(CDKN1C):c.604del (p.Ala202fs)
NM_001122630.2(CDKN1C):c.608_611delinsGGG (p.Pro203fs) rs786205240
NM_001122630.2(CDKN1C):c.60_61del (p.Ser21fs) rs2133786397
NM_001122630.2(CDKN1C):c.614del (p.Pro205fs) rs1564929584
NM_001122630.2(CDKN1C):c.630del (p.Glu211fs)
NM_001122630.2(CDKN1C):c.637_652delinsCCC (p.Ala213fs) rs1848926281
NM_001122630.2(CDKN1C):c.640G>T (p.Glu214Ter) rs1564929520
NM_001122630.2(CDKN1C):c.655C>T (p.Gln219Ter) rs483352988
NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter) rs797045445
NM_001122630.2(CDKN1C):c.661del (p.Gln221fs)
NM_001122630.2(CDKN1C):c.662del (p.Gln221fs)
NM_001122630.2(CDKN1C):c.673G>T (p.Glu225Ter) rs1564929426
NM_001122630.2(CDKN1C):c.67_68insGAG (p.Phe23Ter) rs1848979151
NM_001122630.2(CDKN1C):c.688C>T (p.Gln230Ter) rs483352991
NM_001122630.2(CDKN1C):c.698C>A (p.Ser233Ter) rs483352993
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter) rs104894200
NM_001122630.2(CDKN1C):c.719_730delinsGTGC (p.Ala240fs) rs1554937726
NM_001122630.2(CDKN1C):c.724_727dup (p.Thr243fs)
NM_001122630.2(CDKN1C):c.730del (p.Ala244fs)
NM_001122630.2(CDKN1C):c.745_757del (p.Asn249fs) rs2133782023
NM_001122630.2(CDKN1C):c.748_749del (p.Gly250fs) rs2133782104
NM_001122630.2(CDKN1C):c.74_75del (p.Pro25fs) rs1848978708
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn) rs387907225
NM_001122630.2(CDKN1C):c.789_793delinsGAGCTG (p.Asp263fs) rs2133780371
NM_001122630.2(CDKN1C):c.790_791insC (p.Phe264fs)
NM_001122630.2(CDKN1C):c.793delinsAG (p.Phe265fs) rs2133780364
NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu) rs318240750
NM_001122630.2(CDKN1C):c.809_810del (p.Arg270fs) rs2133780268
NM_001122630.2(CDKN1C):c.812C>A (p.Ser271Ter) rs267606716
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter) rs267606716
NM_001122630.2(CDKN1C):c.812del (p.Arg270_Ser271insTer)
NM_001122630.2(CDKN1C):c.820G>T (p.Glu274Ter)
NM_001122630.2(CDKN1C):c.832_835delinsCTGCGCCTGA (p.Gly278_Asp279delinsLeuArgLeuAsn)
NM_001122630.2(CDKN1C):c.837del (p.Asp279fs)
NM_001122630.2(CDKN1C):c.85G>T (p.Glu29Ter) rs1564930723
NM_001122630.2(CDKN1C):c.92T>C (p.Leu31Pro) rs1848977725
NM_001122630.2(CDKN1C):c.95_96insA (p.Ser32fs) rs2133786225
NM_001127208.3(TET2):c.3562A>T (p.Lys1188Ter)
NM_001127217.3(SMAD9):c.137_140del (p.Lys46fs)
NM_001127217.3(SMAD9):c.386dup (p.Tyr129Ter) rs2138492919
NM_001127217.3(SMAD9):c.606C>A (p.Cys202Ter) rs121918359
NM_001127217.3(SMAD9):c.686del (p.Leu229fs)
NM_001127217.3(SMAD9):c.71G>A (p.Trp24Ter)
NM_001127217.3(SMAD9):c.850C>T (p.Arg284Ter)
NM_001127222.2(CACNA1A):c.1635C>A (p.Tyr545Ter) rs1427473572
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.1843A>C (p.Ser615Arg) rs2057947681
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2134G>A (p.Ala712Thr)
NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met) rs2144979269
NM_001127222.2(CACNA1A):c.2138T>C (p.Val713Ala) rs121908213
NM_001127222.2(CACNA1A):c.2142C>A (p.Asp714Glu) rs121908218
NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter) rs2144958410
NM_001127222.2(CACNA1A):c.3990-2A>C
NM_001127222.2(CACNA1A):c.4034G>A (p.Arg1345Gln) rs121908230
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4055C>T (p.Pro1352Leu) rs1064794808
NM_001127222.2(CACNA1A):c.4064C>T (p.Thr1355Ile) rs2056767062
NM_001127222.2(CACNA1A):c.4148A>G (p.Tyr1383Cys) rs121908219
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4363G>T (p.Val1455Leu) rs121908237
NM_001127222.2(CACNA1A):c.4494CTT[2] (p.Phe1501del) rs886041279
NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr) rs886037946
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001127222.2(CACNA1A):c.4996C>T (p.Arg1666Trp) rs121908220
NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs) rs2144649756
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.5335C>T (p.Arg1779Ter) rs2144629622
NM_001127222.2(CACNA1A):c.5425A>C (p.Ile1809Leu) rs121908214
NM_001127222.2(CACNA1A):c.575G>A (p.Arg192Gln) rs121908211
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu) rs121908225
NM_001127222.2(CACNA1A):c.841del (p.Cys281fs) rs2145245595
NM_001130682.3(GUCY1A1):c.1086+1G>A rs587777320
NM_001130682.3(GUCY1A1):c.1170del (p.Glu391fs) rs587777322
NM_001130682.3(GUCY1A1):c.1422del (p.Lys475fs)
NM_001130682.3(GUCY1A1):c.1550G>A (p.Cys517Tyr) rs751701114
NM_001130682.3(GUCY1A1):c.1954G>T (p.Gly652Ter) rs1368733883
NM_001130682.3(GUCY1A1):c.334_335del (p.Glu112fs) rs781020381
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu) rs267607001
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) rs267607002
NM_001134363.3(RBM20):c.1907G>T (p.Arg636Leu)
NM_001134363.3(RBM20):c.1907_1909delinsTTG (p.Arg636_Ser637delinsLeuGly)
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) rs267607005
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys) rs1564664312
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001135599.4:c.595_1245del
NM_001135697.3(SGCA):c.584+521del rs1220674950
NM_001136239.4(PRDM6):c.1646G>A (p.Arg549Gln) rs879255278
NM_001136239.4(PRDM6):c.788G>C (p.Cys263Ser) rs879255279
NM_001136271.3(NKX2-6):c.451T>C (p.Phe151Leu) rs267606914
NM_001142800.2(EYS):c.7228G>T (p.Ala2410Ser) rs915505702
NM_001142864.4(PIEZO1):c.1381C>T (p.Gln461Ter)
NM_001142864.4(PIEZO1):c.1669+1G>A rs869025600
NM_001142864.4(PIEZO1):c.2263G>T (p.Glu755Ter) rs869025596
NM_001142864.4(PIEZO1):c.2838C>A (p.Tyr946Ter)
NM_001142864.4(PIEZO1):c.4058+1G>C
NM_001142864.4(PIEZO1):c.4275_4278del (p.Ser1425fs) rs1904304634
NM_001142864.4(PIEZO1):c.4888G>T (p.Glu1630Ter) rs869025597
NM_001142864.4(PIEZO1):c.4914C>G (p.Tyr1638Ter)
NM_001142864.4(PIEZO1):c.6682C>T (p.Gln2228Ter) rs869025598
NM_001142864.4(PIEZO1):c.6964G>T (p.Glu2322Ter) rs774561483
NM_001142864.4(PIEZO1):c.7477CTGGAG[3] (p.2493LE[3]) rs587776992
NM_001145661.1(GATA2):c.-200_871+527del2032
NM_001151.4(SLC25A4):c.111+1G>A rs398122942
NM_001151.4(SLC25A4):c.116_137del (p.Gln39fs) rs886041080
NM_001151.4(SLC25A4):c.523del (p.Gln175fs) rs863224209
NM_001151.4(SLC25A4):c.707G>C (p.Arg236Pro) rs770816416
NM_001159699.2(FHL1):c.104dup (p.Tyr35Ter)
NM_001159699.2(FHL1):c.108del (p.Gln37fs) rs1060502840
NM_001159699.2(FHL1):c.156T>A (p.Cys52Ter)
NM_001159699.2(FHL1):c.216T>A (p.Tyr72Ter) rs2073860048
NM_001159699.2(FHL1):c.243C>A (p.Cys81Ter) rs777580253
NM_001159699.2(FHL1):c.263_276del (p.Leu88fs)
NM_001159699.2(FHL1):c.288del (p.Phe96fs) rs2148373432
NM_001159699.2(FHL1):c.339dup (p.Ser114fs)
NM_001159699.2(FHL1):c.349T>C (p.Cys117Arg) rs2073864792
NM_001159699.2(FHL1):c.360dup (p.Phe121fs) rs1556638935
NM_001159699.2(FHL1):c.379+1G>A rs2073866799
NM_001159699.2(FHL1):c.393_394dup (p.Glu132fs)
NM_001159699.2(FHL1):c.406_409dup (p.Val137fs) rs1569530437
NM_001159699.2(FHL1):c.413G>A (p.Trp138Ter) rs122458140
NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser) rs122458140
NM_001159699.2(FHL1):c.414G>C (p.Trp138Cys) rs1556639109
NM_001159699.2(FHL1):c.414del (p.Trp138fs) rs2148375686
NM_001159699.2(FHL1):c.416A>G (p.His139Arg) rs267606812
NM_001159699.2(FHL1):c.417C>A (p.His139Gln) rs267606813
NM_001159699.2(FHL1):c.417C>G (p.His139Gln) rs267606813
NM_001159699.2(FHL1):c.419_420del (p.Lys140fs) rs2073885767
NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle) rs1603271580
NM_001159699.2(FHL1):c.441del (p.Cys148fs) rs2148375860
NM_001159699.2(FHL1):c.466_470del (p.Ser156fs) rs1556639151
NM_001159699.2(FHL1):c.496T>C (p.Cys166Arg) rs1603271659
NM_001159699.2(FHL1):c.497G>A (p.Cys166Tyr) rs122459146
NM_001159699.2(FHL1):c.505T>A (p.Cys169Ser) rs122458144
NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg) rs122458144
NM_001159699.2(FHL1):c.507C>G (p.Cys169Trp)
NM_001159699.2(FHL1):c.518del (p.Lys173fs)
NM_001159699.2(FHL1):c.55G>T (p.Glu19Ter) rs2148371451
NM_001159699.2(FHL1):c.576C>G (p.Tyr192Ter) rs1603272191
NM_001159699.2(FHL1):c.590G>A (p.Trp197Ter) rs1191211949
NM_001159699.2(FHL1):c.613_614del (p.Val205fs) rs1569530588
NM_001159699.2(FHL1):c.618del (p.Cys207fs) rs2148378462
NM_001159699.2(FHL1):c.640C>T (p.Gln214Ter) rs1603272223
NM_001159699.2(FHL1):c.644_650dup (p.Ala218fs) rs2073913069
NM_001159699.2(FHL1):c.661dup (p.Asp221fs) rs1556639379
NM_001159699.2(FHL1):c.670_671dup (p.Cys225fs) rs1603272263
NM_001159699.2(FHL1):c.671dup (p.Tyr224Ter)
NM_001159699.2(FHL1):c.672C>G (p.Tyr224Ter)
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg) rs122459149
NM_001159699.2(FHL1):c.708_736+22del rs2148378774
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp) rs122458141
NM_001159699.2(FHL1):c.736+1G>A rs786200914
NM_001159699.2(FHL1):c.736+1G>C rs786200914
NM_001159699.2(FHL1):c.736+2T>G rs2073916521
NM_001159699.2(FHL1):c.792C>G (p.Tyr264Ter)
NM_001159699.2(FHL1):c.801delinsAA (p.His267fs)
NM_001159699.2(FHL1):c.810dup (p.Cys271fs) rs2073964376
NM_001159699.2(FHL1):c.812dup (p.Cys271fs)
NM_001159699.2(FHL1):c.831del (p.Asn277fs)
NM_001159699.2(FHL1):c.834dup (p.Arg279fs)
NM_001159699.2(FHL1):c.841_844dup (p.Phe282fs) rs1603273685
NM_001159699.2(FHL1):c.853G>T (p.Glu285Ter)
NM_001159699.2(FHL1):c.856C>T (p.Gln286Ter)
NM_001159699.2(FHL1):c.857_870dup (p.Asp291fs)
NM_001159699.2(FHL1):c.863_864dup (p.Cys289fs) rs2148383945
NM_001159699.2(FHL1):c.865dup (p.Cys289fs) rs1603273697
NM_001159699.2(FHL1):c.875G>A (p.Cys292Tyr) rs2148384040
NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu) rs122459148
NM_001159702.3(FHL1):c.838G>A (p.Val280Met) rs267606811
NM_001160160.2(SCN5A):c.4714+95GGGT[3]
NM_001161403.3(LIMS2):c.661-2A>C rs766965539
NM_001161403.3(LIMS2):c.968T>C (p.Leu323Pro) rs869025562
NM_001161404.1(LIMS2):c.[261C>G;275C>T]
NM_001165963.4(SCN1A):c.1028+2T>C rs1698170849
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys) rs121917929
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His) rs121917927
NM_001165963.4(SCN1A):c.1285C>A (p.Gln429Lys)
NM_001165963.4(SCN1A):c.1354A>T (p.Lys452Ter) rs1553546668
NM_001165963.4(SCN1A):c.141del (p.Asn47fs) rs796053076
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter) rs886039430
NM_001165963.4(SCN1A):c.1837C>T (p.Arg613Ter) rs398123585
NM_001165963.4(SCN1A):c.1843G>T (p.Gly615Ter) rs1271824691
NM_001165963.4(SCN1A):c.241G>A (p.Asp81Asn)
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2792G>A (p.Arg931His) rs794726718
NM_001165963.4(SCN1A):c.2854T>A (p.Trp952Arg)
NM_001165963.4(SCN1A):c.2946+2T>C
NM_001165963.4(SCN1A):c.301C>T (p.Arg101Trp) rs121917965
NM_001165963.4(SCN1A):c.302G>A (p.Arg101Gln) rs121917918
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter) rs794726710
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter) rs727504136
NM_001165963.4(SCN1A):c.434T>C (p.Met145Thr) rs121918631
NM_001165963.4(SCN1A):c.4465C>A (p.Gln1489Lys) rs121918628
NM_001165963.4(SCN1A):c.4467G>C (p.Gln1489His) rs121918633
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs) rs794726825
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.4633A>G (p.Ile1545Val) rs121917975
NM_001165963.4(SCN1A):c.4772A>T (p.Lys1591Ile) rs1689685377
NM_001165963.4(SCN1A):c.4907G>A (p.Arg1636Gln) rs121917995
NM_001165963.4(SCN1A):c.4933C>T (p.Arg1645Ter) rs794726759
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln) rs121917976
NM_001165963.4(SCN1A):c.5341T>C (p.Tyr1781His) rs1689242255
NM_001165963.4(SCN1A):c.5347G>A (p.Ala1783Thr) rs121917980
NM_001165963.4(SCN1A):c.5674C>T (p.Arg1892Ter) rs794726739
NM_001165963.4(SCN1A):c.5734C>T (p.Arg1912Ter) rs77216276
NM_001165963.4(SCN1A):c.602+1G>A
NM_001165963.4(SCN1A):c.659T>A (p.Val220Asp)
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001165963.4(SCN1A):c.828A>C (p.Lys276Asn)
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter) rs1698593264
NM_001166345.3(MDFIC):c.187G>T (p.Gly63Ter) rs753720421
NM_001166345.3(MDFIC):c.371del (p.Leu123_Ser124insTer) rs2115961148
NM_001166345.3(MDFIC):c.391dup (p.Met131fs) rs562142736
NM_001167623.2(CACNA1C):c.1204G>A (p.Gly402Ser) rs587782933
NM_001167623.2(CACNA1C):c.1216G>A (p.Gly406Arg) rs786205745
NM_001167623.2(CACNA1C):c.1216G>C (p.Gly406Arg) rs786205745
NM_001171.6(ABCC6):c.1087C>T (p.Gln363Ter) rs72650698
NM_001171.6(ABCC6):c.1674del (p.Glu559fs) rs1313008538
NM_001171.6(ABCC6):c.1999del (p.Ala667fs) rs72664227
NM_001171.6(ABCC6):c.2162G>A (p.Trp721Ter) rs72650701
NM_001171.6(ABCC6):c.3774dup (p.Trp1259fs) rs72664220
NM_001171.6(ABCC6):c.4216C>A (p.Gln1406Lys) rs387906859
NM_001171.6(ABCC6):c.450dup (p.Ala151fs) rs387906860
NM_001172501.3(SLC6A2):c.1369G>C (p.Ala457Pro) rs121918126
NM_001184.4(ATR):c.6431A>G (p.Gln2144Arg) rs387906797
NM_001200.4(BMP2):c.1052C>G (p.Ser351Cys)
NM_001200.4(BMP2):c.962A>T (p.His321Leu)
NM_001200.4(BMP2):c.982G>A (p.Glu328Lys)
NM_001204.6(BMPR2):c.(1413+1_1414-1)_(*1_?)del
NM_001204.6(BMPR2):c.(418+1_419-1)_(*1_?)del
NM_001204.6(BMPR2):c.(76+1_77-1)_(*1_?)del
NM_001204.6(BMPR2):c.(?_-1)_(*1_?)del
NM_001204.6(BMPR2):c.(?_-1)_(1128+1_1129-1)del
NM_001204.6(BMPR2):c.(?_-1)_(418+1_419-1)del
NM_001204.6(BMPR2):c.(?_-1)_(529+1_530-1)del
NM_001204.6(BMPR2):c.(?_-1)_(76+1_77-1)del
NM_001204.6(BMPR2):c.(?_-540)_(*1_?)del
NM_001204.6(BMPR2):c.(?_-540)_(76+1_77-1)del
NM_001204.6(BMPR2):c.1277-?_1413+?del
NM_001204.6(BMPR2):c.1277-?_1413+?dup
NM_001204.6(BMPR2):c.1279delG rs1085307333
NM_001204.6(BMPR2):c.1414-?_2866+?del
NM_001204.6(BMPR2):c.248-?_418+?del
NM_001204.6(BMPR2):c.248-?_418+?dup
NM_001204.6(BMPR2):c.419-?_1128+?dup
NM_001204.6(BMPR2):c.419-?_1413+?del
NM_001204.6(BMPR2):c.419-?_529+?del
NM_001204.6(BMPR2):c.419-?_621+?del
NM_001204.6(BMPR2):c.419-?_967+?del
NM_001204.6(BMPR2):c.51_814del
NM_001204.6(BMPR2):c.530-?_621+?del
NM_001204.6(BMPR2):c.530-?_967+?del
NM_001204.6(BMPR2):c.622-?_852+?del
NM_001204.6(BMPR2):c.622-?_967+?del
NM_001204.6(BMPR2):c.77-?_1276+?del
NM_001204.6(BMPR2):c.77-?_247+?dup
NM_001204.6(BMPR2):c.77-?_418+?del
NM_001204.6(BMPR2):c.77-?_418+?dup
NM_001204.6(BMPR2):c.77-?_621+?del
NM_001204.6(BMPR2):c.77-?_967+?dup
NM_001204.6(BMPR2):c.853-?_967+?dup
NM_001204.6(BMPR2):c.968-?_1128+?del
NM_001204.6(BMPR2):c.968-?_1276+?del
NM_001204.6(BMPR2):c.968-?_1413+?dup
NM_001204.7(BMPR2):c.(76+1_77-1)_(247+1_248-1)del
NM_001204.7(BMPR2):c.-947_-946delinsAT rs1085307144
NM_001204.7(BMPR2):c.1001T>G (p.Leu334Ter) rs1085307286
NM_001204.7(BMPR2):c.100T>C (p.Cys34Arg) rs1085307163
NM_001204.7(BMPR2):c.1011_1015del (p.Arg337fs) rs1085307287
NM_001204.7(BMPR2):c.1016T>A (p.Val339Asp) rs1085307288
NM_001204.7(BMPR2):c.1019T>C (p.Leu340Pro) rs1085307289
NM_001204.7(BMPR2):c.1028dup (p.Asn343fs) rs1688010642
NM_001204.7(BMPR2):c.1039T>C (p.Cys347Arg) rs1085307290
NM_001204.7(BMPR2):c.103del (p.Ala35fs) rs1085307164
NM_001204.7(BMPR2):c.1040G>A (p.Cys347Tyr) rs137852744
NM_001204.7(BMPR2):c.1044del (p.Ile349fs) rs1085307291
NM_001204.7(BMPR2):c.1060del (p.Leu354fs) rs1085307292
NM_001204.7(BMPR2):c.1069del (p.Arg357fs) rs2106018181
NM_001204.7(BMPR2):c.1076del (p.Thr359fs) rs1085307294
NM_001204.7(BMPR2):c.1093_1098delinsG (p.Arg365fs) rs1085307295
NM_001204.7(BMPR2):c.1097del (p.Pro366fs) rs1085307296
NM_001204.7(BMPR2):c.1101_1105del (p.Glu368fs) rs1085307297
NM_001204.7(BMPR2):c.1102G>T (p.Glu368Ter) rs2106018257
NM_001204.7(BMPR2):c.1113dup (p.Ala372fs) rs1085307298
NM_001204.7(BMPR2):c.1120del (p.Ala373_Ile374insTer) rs1085307300
NM_001204.7(BMPR2):c.1125_1128+16del rs878854272
NM_001204.7(BMPR2):c.1126G>T (p.Glu376Ter) rs1085307301
NM_001204.7(BMPR2):c.1128+1G>A rs863223420
NM_001204.7(BMPR2):c.1128+1G>C rs863223420
NM_001204.7(BMPR2):c.1128+1G>T rs863223420
NM_001204.7(BMPR2):c.1128+2T>G rs1574493841
NM_001204.7(BMPR2):c.1129-1_1129dup rs1085307302
NM_001204.7(BMPR2):c.1129-3C>G rs748230358
NM_001204.7(BMPR2):c.1141dup (p.Arg381fs) rs1085307303
NM_001204.7(BMPR2):c.1142_1143dup (p.Tyr382fs) rs1553509983
NM_001204.7(BMPR2):c.1146T>G (p.Tyr382Ter) rs1085307304
NM_001204.7(BMPR2):c.1148del (p.Met383fs) rs1553509984
NM_001204.7(BMPR2):c.1151C>T (p.Ala384Val) rs1085307305
NM_001204.7(BMPR2):c.1156G>A (p.Glu386Lys) rs1085307306
NM_001204.7(BMPR2):c.1156G>C (p.Glu386Gln) rs1085307306
NM_001204.7(BMPR2):c.1157A>C (p.Glu386Ala) rs1085307307
NM_001204.7(BMPR2):c.1157A>G (p.Glu386Gly) rs1085307307
NM_001204.7(BMPR2):c.1157A>T (p.Glu386Val) rs1085307307
NM_001204.7(BMPR2):c.1169del (p.Gly390fs)
NM_001204.7(BMPR2):c.116del (p.Pro39fs) rs1085307165
NM_001204.7(BMPR2):c.1171G>A (p.Ala391Thr) rs1085307308
NM_001204.7(BMPR2):c.1175T>C (p.Val392Ala) rs1085307309
NM_001204.7(BMPR2):c.1175del (p.Val392fs) rs2106019982
NM_001204.7(BMPR2):c.1191_1192del (p.Cys397_Glu398delinsTer) rs1085307310
NM_001204.7(BMPR2):c.1196C>G (p.Ser399Ter) rs1085307311
NM_001204.7(BMPR2):c.1202T>C (p.Leu401Ser) rs1085307312
NM_001204.7(BMPR2):c.1206del (p.Lys402fs) rs2106020004
NM_001204.7(BMPR2):c.1207C>T (p.Gln403Ter) rs946132834
NM_001204.7(BMPR2):c.120T>A (p.Tyr40Ter) rs137852755
NM_001204.7(BMPR2):c.120T>G (p.Tyr40Ter) rs137852755
NM_001204.7(BMPR2):c.1214del (p.Asp405fs) rs1085307313
NM_001204.7(BMPR2):c.1220A>C (p.Tyr407Ser) rs1085307314
NM_001204.7(BMPR2):c.1221T>G (p.Tyr407Ter) rs1085307315
NM_001204.7(BMPR2):c.1228G>A (p.Gly410Arg) rs1085307316
NM_001204.7(BMPR2):c.1228G>C (p.Gly410Arg) rs1085307316
NM_001204.7(BMPR2):c.1233_1236dup (p.Tyr413fs) rs1688050712
NM_001204.7(BMPR2):c.1241G>A (p.Trp414Ter) rs1085307317
NM_001204.7(BMPR2):c.1242G>A (p.Trp414Ter) rs1574494632
NM_001204.7(BMPR2):c.1243G>T (p.Glu415Ter) rs1085307318
NM_001204.7(BMPR2):c.1245_1246dup (p.Ile416fs) rs1553509997
NM_001204.7(BMPR2):c.1246_1247insG (p.Ile416fs) rs1085307319
NM_001204.7(BMPR2):c.1247_1250delinsGA (p.Ile416fs) rs1085307320
NM_001204.7(BMPR2):c.1248del (p.Phe417fs) rs1085307321
NM_001204.7(BMPR2):c.124C>T (p.Gln42Ter) rs1085307166
NM_001204.7(BMPR2):c.1250_1253del (p.Ile416_Phe417insTer) rs1085307322
NM_001204.7(BMPR2):c.1257A>T (p.Arg419Ser) rs1085307323
NM_001204.7(BMPR2):c.1258T>C (p.Cys420Arg) rs1085307324
NM_001204.7(BMPR2):c.1259G>A (p.Cys420Tyr) rs1085307325
NM_001204.7(BMPR2):c.1268dup (p.Phe424fs) rs1085307326
NM_001204.7(BMPR2):c.1271_1276delinsCGGAGA (p.Phe424_Gly426delinsSerGluArg) rs1085307327
NM_001204.7(BMPR2):c.1274dup (p.Gly426fs) rs1085307328
NM_001204.7(BMPR2):c.1276+1G>A rs767070218
NM_001204.7(BMPR2):c.1276+3A>G rs1085307329
NM_001204.7(BMPR2):c.1276+3A>T rs1085307329
NM_001204.7(BMPR2):c.1276+4A>G rs1085307330
NM_001204.7(BMPR2):c.1276G>C (p.Gly426Arg) rs869025367
NM_001204.7(BMPR2):c.1277-10_1277-9insGGG rs886039220
NM_001204.7(BMPR2):c.1277-1G>A
NM_001204.7(BMPR2):c.1277-289_1413+4737del
NM_001204.7(BMPR2):c.1277-2A>G rs1574499954
NM_001204.7(BMPR2):c.1277-8A>G rs1085307332
NM_001204.7(BMPR2):c.1277-9A>C rs1085307331
NM_001204.7(BMPR2):c.1277-9A>G rs1085307331
NM_001204.7(BMPR2):c.1285_1286insGGATT (p.Val429fs) rs1085307334
NM_001204.7(BMPR2):c.1293_1300del (p.Glu431fs) rs1085307335
NM_001204.7(BMPR2):c.1296C>G (p.Tyr432Ter) rs1085307336
NM_001204.7(BMPR2):c.1297C>T (p.Gln433Ter) rs137852756
NM_001204.7(BMPR2):c.1313_1316del (p.Thr438fs) rs1085307337
NM_001204.7(BMPR2):c.1316_1317del (p.Glu439fs)
NM_001204.7(BMPR2):c.1332dup (p.Thr445fs) rs2106030892
NM_001204.7(BMPR2):c.1346T>G (p.Met449Arg) rs1085307338
NM_001204.7(BMPR2):c.1348C>T (p.Gln450Ter) rs868369541
NM_001204.7(BMPR2):c.1355_1356dup (p.Val453fs) rs1574500018
NM_001204.7(BMPR2):c.135del (p.Gly45_Ile46insTer) rs2105959685
NM_001204.7(BMPR2):c.1366delinsCA (p.Glu456fs) rs1085307339
NM_001204.7(BMPR2):c.1371del (p.Lys457fs) rs1085307340
NM_001204.7(BMPR2):c.1371dup (p.Gln458fs) rs1085307340
NM_001204.7(BMPR2):c.1372_1373del (p.Gln458fs) rs1688293940
NM_001204.7(BMPR2):c.1376_1377del (p.Arg459fs) rs1085307342
NM_001204.7(BMPR2):c.1387_1388insA (p.Pro463fs) rs1085307343
NM_001204.7(BMPR2):c.1389dup (p.Glu464fs) rs1085307344
NM_001204.7(BMPR2):c.1392del (p.Ala465fs) rs1085307345
NM_001204.7(BMPR2):c.1397G>A (p.Trp466Ter) rs1085307346
NM_001204.7(BMPR2):c.1398G>A (p.Trp466Ter) rs1060502576
NM_001204.7(BMPR2):c.1401del (p.Glu468fs) rs1085307347
NM_001204.7(BMPR2):c.1402G>T (p.Glu468Ter) rs1085307348
NM_001204.7(BMPR2):c.1413+1G>A rs1085307349
NM_001204.7(BMPR2):c.1413+3A>T rs1085307350
NM_001204.7(BMPR2):c.1414-2A>T rs1085307351
NM_001204.7(BMPR2):c.1424C>A (p.Ser475Ter) rs1085307352
NM_001204.7(BMPR2):c.1426_1450del (p.Leu476fs) rs863223422
NM_001204.7(BMPR2):c.1427del (p.Leu476fs) rs1085307353
NM_001204.7(BMPR2):c.142dup (p.Glu48fs) rs1692288591
NM_001204.7(BMPR2):c.1432G>T (p.Glu478Ter) rs1574505253
NM_001204.7(BMPR2):c.1441G>T (p.Glu481Ter) rs937502048
NM_001204.7(BMPR2):c.1443_1445del (p.Glu481del) rs886039221
NM_001204.7(BMPR2):c.1451G>A (p.Trp484Ter) rs1085307355
NM_001204.7(BMPR2):c.1453G>A (p.Asp485Asn) rs1085307356
NM_001204.7(BMPR2):c.1454A>G (p.Asp485Gly) rs137852745
NM_001204.7(BMPR2):c.1456C>T (p.Gln486Ter) rs1085307357
NM_001204.7(BMPR2):c.1460A>T (p.Asp487Val) rs1085307358
NM_001204.7(BMPR2):c.1469C>T (p.Ala490Val) rs886039222
NM_001204.7(BMPR2):c.1471C>T (p.Arg491Trp) rs137852746
NM_001204.7(BMPR2):c.1472G>A (p.Arg491Gln) rs137852749
NM_001204.7(BMPR2):c.1472G>T (p.Arg491Leu) rs137852749
NM_001204.7(BMPR2):c.1477dup (p.Thr493fs) rs1085307359
NM_001204.7(BMPR2):c.1483C>T (p.Gln495Ter) rs1085307360
NM_001204.7(BMPR2):c.1486T>C (p.Cys496Arg) rs1085307361
NM_001204.7(BMPR2):c.1487G>A (p.Cys496Tyr) rs1085307362
NM_001204.7(BMPR2):c.1513dup (p.Met505fs) rs1559073178
NM_001204.7(BMPR2):c.1519_1520insAT (p.Ile507fs) rs2106042216
NM_001204.7(BMPR2):c.1523G>A (p.Trp508Ter) rs780722371
NM_001204.7(BMPR2):c.1525G>T (p.Glu509Ter) rs1085307363
NM_001204.7(BMPR2):c.1535A>C (p.Lys512Thr) rs1085307364
NM_001204.7(BMPR2):c.1536del (p.Lys512fs) rs1574505369
NM_001204.7(BMPR2):c.1549del (p.Thr517fs)
NM_001204.7(BMPR2):c.1557T>A (p.Asn519Lys) rs1085307365
NM_001204.7(BMPR2):c.156_157del (p.Ser52_His53insTer) rs1085307169
NM_001204.7(BMPR2):c.1585del (p.Arg529fs) rs1085307366
NM_001204.7(BMPR2):c.1587-7_1587-4del rs769408722
NM_001204.7(BMPR2):c.1605del (p.Arg535fs)
NM_001204.7(BMPR2):c.1629T>G (p.Tyr543Ter) rs759990771
NM_001204.7(BMPR2):c.1644del (p.Ser549fs)
NM_001204.7(BMPR2):c.1664_1665del (p.Ser555fs) rs1574506470
NM_001204.7(BMPR2):c.168del (p.Thr57fs) rs1085307170
NM_001204.7(BMPR2):c.16C>T (p.Gln6Ter) rs886039219
NM_001204.7(BMPR2):c.16_20del (p.Gln6fs) rs1085307146
NM_001204.7(BMPR2):c.1748dup (p.Asn583fs) rs772920507
NM_001204.7(BMPR2):c.174_175dup (p.Leu59fs) rs886039223
NM_001204.7(BMPR2):c.1789C>T (p.Arg597Ter) rs886039673
NM_001204.7(BMPR2):c.178T>C (p.Cys60Arg) rs1085307171
NM_001204.7(BMPR2):c.178T>G (p.Cys60Gly) rs1085307171
NM_001204.7(BMPR2):c.179G>A (p.Cys60Tyr) rs1085307172
NM_001204.7(BMPR2):c.186_187insTACC (p.Gly63fs) rs1553503200
NM_001204.7(BMPR2):c.186dup (p.Gly63fs) rs863223423
NM_001204.7(BMPR2):c.189_207delinsGGAGCATAATCAAA (p.Ser64fs) rs1085307173
NM_001204.7(BMPR2):c.189_209del (p.Ser64_Trp70del) rs1085307174
NM_001204.7(BMPR2):c.189dup (p.Ser64Ter)
NM_001204.7(BMPR2):c.1922del (p.His641fs)
NM_001204.7(BMPR2):c.1954_1955dup (p.Val654fs) rs1085307369
NM_001204.7(BMPR2):c.1958_1959del (p.Pro653fs) rs1574506729
NM_001204.7(BMPR2):c.1962_1963insGA (p.Cys655fs) rs1574506732
NM_001204.7(BMPR2):c.1968dup (p.Gln657fs) rs1085307370
NM_001204.7(BMPR2):c.1969C>T (p.Gln657Ter) rs1085307371
NM_001204.7(BMPR2):c.196T>C (p.Cys66Arg) rs1085307175
NM_001204.7(BMPR2):c.196T>G (p.Cys66Gly) rs1085307175
NM_001204.7(BMPR2):c.1978G>T (p.Glu660Ter) rs1085307372
NM_001204.7(BMPR2):c.197G>A (p.Cys66Tyr) rs1085307176
NM_001204.7(BMPR2):c.19del (p.Arg7fs) rs1574415785
NM_001204.7(BMPR2):c.2009del (p.Pro670fs) rs1085307373
NM_001204.7(BMPR2):c.200A>G (p.Tyr67Cys) rs1085307177
NM_001204.7(BMPR2):c.200dup (p.Tyr67Ter) rs1085307178
NM_001204.7(BMPR2):c.2014G>T (p.Glu672Ter) rs1574506790
NM_001204.7(BMPR2):c.201T>G (p.Tyr67Ter) rs1085307179
NM_001204.7(BMPR2):c.2027_2030dup (p.Lys678fs) rs1574506799
NM_001204.7(BMPR2):c.203G>A (p.Gly68Asp) rs1085307180
NM_001204.7(BMPR2):c.2124C>G (p.Tyr708Ter) rs1085307374
NM_001204.7(BMPR2):c.2128del (p.Leu710fs) rs1085307375
NM_001204.7(BMPR2):c.2132_2133del (p.Ile711fs)
NM_001204.7(BMPR2):c.2158C>T (p.Gln720Ter) rs1574506914
NM_001204.7(BMPR2):c.218C>G (p.Ser73Ter) rs137852742
NM_001204.7(BMPR2):c.21_29delinsA (p.Pro8fs) rs1085307148
NM_001204.7(BMPR2):c.21del (p.Trp9fs) rs1085307147
NM_001204.7(BMPR2):c.2202del (p.Pro735fs) rs1688559190
NM_001204.7(BMPR2):c.2216del (p.Pro739fs) rs1574506949
NM_001204.7(BMPR2):c.2245dup (p.Gln749fs) rs1574506976
NM_001204.7(BMPR2):c.2286del (p.Asn764fs) rs1085307376
NM_001204.7(BMPR2):c.2291dup (p.Asn764fs) rs1085307377
NM_001204.7(BMPR2):c.2297del (p.Thr766fs) rs1085307378
NM_001204.7(BMPR2):c.2303_2309del (p.Glu768fs) rs1085307379
NM_001204.7(BMPR2):c.2308del (p.Arg770fs) rs1085307380
NM_001204.7(BMPR2):c.2319del (p.Phe773fs)
NM_001204.7(BMPR2):c.2353G>T (p.Glu785Ter)
NM_001204.7(BMPR2):c.236_238delinsAAAAGGGGACA (p.Leu79fs) rs1085307181
NM_001204.7(BMPR2):c.2372_2373del (p.Met791fs) rs1574507076
NM_001204.7(BMPR2):c.2372_2391del (p.Met791fs)
NM_001204.7(BMPR2):c.237del (p.Leu79_Val80insTer) rs1085307182
NM_001204.7(BMPR2):c.2386del (p.Ala796fs) rs1085307381
NM_001204.7(BMPR2):c.2407_2408insTG (p.Thr803fs) rs1085307382
NM_001204.7(BMPR2):c.240_241insT (p.Lys81Ter) rs1085307183
NM_001204.7(BMPR2):c.2410_2413del (p.Val804fs) rs1085307383
NM_001204.7(BMPR2):c.2413dup (p.Thr805fs) rs1085307384
NM_001204.7(BMPR2):c.2426dup (p.Ala810fs) rs1574507124
NM_001204.7(BMPR2):c.2442_2443del (p.His814fs) rs1085307385
NM_001204.7(BMPR2):c.2446_2447dup (p.Asn817fs) rs1085307386
NM_001204.7(BMPR2):c.244C>T (p.Gln82Ter) rs1085307184
NM_001204.7(BMPR2):c.2450_2451del (p.Asn817fs) rs2105712248
NM_001204.7(BMPR2):c.246dup (p.Gly83fs) rs1085307186
NM_001204.7(BMPR2):c.247+1G>A rs1085307188
NM_001204.7(BMPR2):c.247+1_247+7del rs1085307189
NM_001204.7(BMPR2):c.247+2del rs1085307190
NM_001204.7(BMPR2):c.247+6T>G rs1085307191
NM_001204.7(BMPR2):c.247G>A (p.Gly83Arg) rs1085307187
NM_001204.7(BMPR2):c.248-1G>A rs1085307194
NM_001204.7(BMPR2):c.248-2A>G rs1085307193
NM_001204.7(BMPR2):c.248-3T>G rs368090069
NM_001204.7(BMPR2):c.248-592_413delinsGTAAAGTA rs1553503473
NM_001204.7(BMPR2):c.248-5_248delinsAC rs1085307192
NM_001204.7(BMPR2):c.2484del (p.Thr829fs) rs1085307387
NM_001204.7(BMPR2):c.248G>A (p.Gly83Glu) rs1085307195
NM_001204.7(BMPR2):c.2500C>T (p.Gln834Ter) rs1574507215
NM_001204.7(BMPR2):c.2503_2506del (p.Thr835fs) rs1085307389
NM_001204.7(BMPR2):c.2503dup (p.Thr835fs) rs1085307388
NM_001204.7(BMPR2):c.2504del (p.Thr835fs) rs1085307390
NM_001204.7(BMPR2):c.2506_2522del (p.Thr835_Thr836insTer) rs1085307391
NM_001204.7(BMPR2):c.250T>C (p.Cys84Arg) rs1085307196
NM_001204.7(BMPR2):c.250T>G (p.Cys84Gly) rs1085307196
NM_001204.7(BMPR2):c.251G>A (p.Cys84Tyr) rs1085307197
NM_001204.7(BMPR2):c.251G>T (p.Cys84Phe) rs1085307197
NM_001204.7(BMPR2):c.2521_2522dup (p.Arg842fs) rs1085307392
NM_001204.7(BMPR2):c.2527del (p.Ala843fs) rs1085307393
NM_001204.7(BMPR2):c.2530C>T (p.Gln844Ter)
NM_001204.7(BMPR2):c.2533G>T (p.Glu845Ter) rs1085307394
NM_001204.7(BMPR2):c.2533del (p.Glu845fs) rs1574507268
NM_001204.7(BMPR2):c.2548C>T (p.Gln850Ter) rs1574507276
NM_001204.7(BMPR2):c.254G>A (p.Trp85Ter)
NM_001204.7(BMPR2):c.2551_2563del (p.Phe851fs)
NM_001204.7(BMPR2):c.2558_2559insA (p.Gly853_Glu854insTer) rs1574507290
NM_001204.7(BMPR2):c.255G>A (p.Trp85Ter) rs1085307198
NM_001204.7(BMPR2):c.2580del (p.Asn861fs) rs1085307395
NM_001204.7(BMPR2):c.2588G>A (p.Ser863Asn) rs1006246556
NM_001204.7(BMPR2):c.2608_2612del (p.Leu870fs) rs1574507331
NM_001204.7(BMPR2):c.2609del (p.Leu870fs) rs1085307396
NM_001204.7(BMPR2):c.260dup (p.His87fs) rs1085307199
NM_001204.7(BMPR2):c.2617C>T (p.Arg873Ter) rs137852748
NM_001204.7(BMPR2):c.2620G>T (p.Glu874Ter) rs1085307397
NM_001204.7(BMPR2):c.2625del (p.Gln875fs)
NM_001204.7(BMPR2):c.2626C>T (p.Gln876Ter) rs1085307398
NM_001204.7(BMPR2):c.2668del (p.Arg890fs) rs1085307399
NM_001204.7(BMPR2):c.2695C>T (p.Arg899Ter) rs137852741
NM_001204.7(BMPR2):c.2696G>C (p.Arg899Pro) rs137852752
NM_001204.7(BMPR2):c.26_41del (p.Trp9fs) rs1574415799
NM_001204.7(BMPR2):c.2730T>A (p.Cys910Ter) rs1085307400
NM_001204.7(BMPR2):c.2737C>T (p.Gln913Ter) rs769603144
NM_001204.7(BMPR2):c.274C>T (p.Gln92Ter) rs1085307201
NM_001204.7(BMPR2):c.274del (p.Gln92fs) rs1574464060
NM_001204.7(BMPR2):c.2752C>T (p.Gln918Ter) rs1085307401
NM_001204.7(BMPR2):c.277dup (p.Glu93fs) rs1085307202
NM_001204.7(BMPR2):c.2789C>G (p.Ser930Ter) rs1085307402
NM_001204.7(BMPR2):c.27G>A (p.Trp9Ter) rs1085307149
NM_001204.7(BMPR2):c.280T>C (p.Cys94Arg) rs1085307203
NM_001204.7(BMPR2):c.280T>G (p.Cys94Gly) rs1085307203
NM_001204.7(BMPR2):c.288T>G (p.Tyr96Ter) rs749485755
NM_001204.7(BMPR2):c.28C>T (p.Arg10Trp) rs1085307150
NM_001204.7(BMPR2):c.292G>T (p.Glu98Ter) rs1085307204
NM_001204.7(BMPR2):c.2945A>G (p.Lys982Arg) rs1085307403
NM_001204.7(BMPR2):c.296G>A (p.Cys99Tyr) rs1085307205
NM_001204.7(BMPR2):c.296G>T (p.Cys99Phe) rs1085307205
NM_001204.7(BMPR2):c.314del (p.Pro105fs) rs1574464121
NM_001204.7(BMPR2):c.320C>A (p.Ser107Ter) rs1085307208
NM_001204.7(BMPR2):c.320C>G (p.Ser107Ter) rs1085307208
NM_001204.7(BMPR2):c.338A>G (p.Tyr113Cys) rs1085307209
NM_001204.7(BMPR2):c.338dup (p.Tyr113Ter) rs1085307210
NM_001204.7(BMPR2):c.339C>A (p.Tyr113Ter) rs1085307211
NM_001204.7(BMPR2):c.339C>G (p.Tyr113Ter) rs1085307211
NM_001204.7(BMPR2):c.339_340insAA (p.Arg114fs) rs1085307212
NM_001204.7(BMPR2):c.344dup (p.Cys116fs) rs1574464150
NM_001204.7(BMPR2):c.345_346del (p.Phe115fs) rs1085307213
NM_001204.7(BMPR2):c.346T>C (p.Cys116Arg) rs1574464160
NM_001204.7(BMPR2):c.346del (p.Cys116fs) rs2105962353
NM_001204.7(BMPR2):c.349T>C (p.Cys117Arg) rs1085307214
NM_001204.7(BMPR2):c.349T>G (p.Cys117Gly) rs1085307214
NM_001204.7(BMPR2):c.350G>A (p.Cys117Tyr) rs1085307215
NM_001204.7(BMPR2):c.350G>C (p.Cys117Ser) rs1085307215
NM_001204.7(BMPR2):c.353G>A (p.Cys118Tyr) rs1085307216
NM_001204.7(BMPR2):c.353del (p.Cys118fs) rs1085307217
NM_001204.7(BMPR2):c.354T>G (p.Cys118Trp) rs137852743
NM_001204.7(BMPR2):c.354_355delinsAG (p.Cys118_Ser119delinsTer) rs1085307218
NM_001204.7(BMPR2):c.355del (p.Ser119fs) rs1085307219
NM_001204.7(BMPR2):c.359_360del (p.Thr120fs) rs1085307220
NM_001204.7(BMPR2):c.367T>A (p.Cys123Ser) rs137852750
NM_001204.7(BMPR2):c.367T>C (p.Cys123Arg) rs137852750
NM_001204.7(BMPR2):c.370A>G (p.Asn124Asp) rs1085307221
NM_001204.7(BMPR2):c.371dup (p.Asn124fs) rs1085307222
NM_001204.7(BMPR2):c.377A>G (p.Asn126Ser) rs863223426
NM_001204.7(BMPR2):c.38G>A (p.Trp13Ter) rs1085307151
NM_001204.7(BMPR2):c.399del (p.Pro134fs) rs1085307223
NM_001204.7(BMPR2):c.39G>A (p.Trp13Ter) rs1085307152
NM_001204.7(BMPR2):c.407_408del (p.Thr136fs) rs1085307224
NM_001204.7(BMPR2):c.408_412del (p.Pro138fs) rs1085307225
NM_001204.7(BMPR2):c.409dup (p.Thr137fs) rs2105962408
NM_001204.7(BMPR2):c.418+1G>C rs1085307226
NM_001204.7(BMPR2):c.418+2_418+4delinsGAG rs1085307227
NM_001204.7(BMPR2):c.418+3A>T rs1085307228
NM_001204.7(BMPR2):c.418+5G>A rs1085307229
NM_001204.7(BMPR2):c.418+5_418+8del rs1085307230
NM_001204.7(BMPR2):c.419-10T>C rs1085307231
NM_001204.7(BMPR2):c.420_421insG (p.Pro141fs) rs1085307232
NM_001204.7(BMPR2):c.435del (p.Phe145fs) rs1085307233
NM_001204.7(BMPR2):c.439C>T (p.Arg147Ter) rs869025366
NM_001204.7(BMPR2):c.443del (p.Asp148fs) rs1687663690
NM_001204.7(BMPR2):c.449dup (p.Ile151fs) rs1085307234
NM_001204.7(BMPR2):c.44del (p.Pro15fs) rs483352902
NM_001204.7(BMPR2):c.470C>G (p.Ser157Ter) rs1574485996
NM_001204.7(BMPR2):c.47G>A (p.Trp16Ter) rs1085307153
NM_001204.7(BMPR2):c.482T>A (p.Leu161Ter) rs1085307235
NM_001204.7(BMPR2):c.48G>A (p.Trp16Ter) rs1085307154
NM_001204.7(BMPR2):c.498del (p.Ala167fs) rs1085307236
NM_001204.7(BMPR2):c.503dup (p.Leu168fs) rs1085307237
NM_001204.7(BMPR2):c.507C>A (p.Cys169Ter) rs137852747
NM_001204.7(BMPR2):c.507_510delinsAAA (p.Cys169_Phe170delinsTer) rs1085307238
NM_001204.7(BMPR2):c.516C>G (p.Tyr172Ter) rs1085307239
NM_001204.7(BMPR2):c.524del (p.Met174_Leu175insTer) rs2106002172
NM_001204.7(BMPR2):c.528del (p.Gly177fs) rs1085307240
NM_001204.7(BMPR2):c.529+1G>A rs1553508187
NM_001204.7(BMPR2):c.529+2T>C rs1085307241
NM_001204.7(BMPR2):c.530-2A>G rs2106003122
NM_001204.7(BMPR2):c.533_536dup (p.Lys180fs) rs1574486497
NM_001204.7(BMPR2):c.541C>T (p.Gln181Ter) rs1085307242
NM_001204.7(BMPR2):c.551_573del (p.His184fs) rs1085307243
NM_001204.7(BMPR2):c.583G>T (p.Glu195Ter) rs397514497
NM_001204.7(BMPR2):c.595del (p.Asp199fs)
NM_001204.7(BMPR2):c.604A>T (p.Asn202Tyr) rs397514496
NM_001204.7(BMPR2):c.608_609del (p.Leu203fs) rs1085307245
NM_001204.7(BMPR2):c.610A>T (p.Lys204Ter) rs2106003228
NM_001204.7(BMPR2):c.612del (p.Lys204fs) rs1085307246
NM_001204.7(BMPR2):c.619dup (p.Glu207fs) rs1574486566
NM_001204.7(BMPR2):c.621+1G>A rs1553508321
NM_001204.7(BMPR2):c.631C>T (p.Arg211Ter) rs137852753
NM_001204.7(BMPR2):c.637C>T (p.Arg213Ter) rs886041324
NM_001204.7(BMPR2):c.642T>G (p.Tyr214Ter) rs1085307247
NM_001204.7(BMPR2):c.657del (p.Gly220fs) rs1574488314
NM_001204.7(BMPR2):c.659dup (p.Ser221fs) rs1085307248
NM_001204.7(BMPR2):c.664_665delinsAAGG (p.Leu222fs) rs1085307249
NM_001204.7(BMPR2):c.673_679del (p.Arg225fs) rs1085307250
NM_001204.7(BMPR2):c.683del (p.Ala228fs) rs1574488346
NM_001204.7(BMPR2):c.687_693del (p.Lys230fs) rs1574488353
NM_001204.7(BMPR2):c.689_690del (p.Lys230fs) rs1085307251
NM_001204.7(BMPR2):c.690A>T (p.Lys230Asn) rs1085307252
NM_001204.7(BMPR2):c.690_691delinsT (p.Lys230fs) rs1085307253
NM_001204.7(BMPR2):c.691del (p.Val231fs) rs1574488357
NM_001204.7(BMPR2):c.71C>A (p.Ala24Glu) rs370120266
NM_001204.7(BMPR2):c.727G>A (p.Glu243Lys) rs1085307254
NM_001204.7(BMPR2):c.727G>C (p.Glu243Gln) rs1085307254
NM_001204.7(BMPR2):c.727G>T (p.Glu243Ter) rs1085307254
NM_001204.7(BMPR2):c.76+1G>T rs1085307155
NM_001204.7(BMPR2):c.76+2T>A
NM_001204.7(BMPR2):c.76+2T>C rs1085307156
NM_001204.7(BMPR2):c.76+5G>A rs1085307157
NM_001204.7(BMPR2):c.761_762del (p.His254fs) rs1574488412
NM_001204.7(BMPR2):c.77-1G>A rs1085307159
NM_001204.7(BMPR2):c.77-3572_418+119del
NM_001204.7(BMPR2):c.77-35_86del rs1085307158
NM_001204.7(BMPR2):c.775del (p.Arg259fs) rs1085307255
NM_001204.7(BMPR2):c.782_783del (p.Ile261fs) rs1085307256
NM_001204.7(BMPR2):c.786dup (p.Gly263fs) rs1085307257
NM_001204.7(BMPR2):c.790del (p.Asp264fs) rs1085307258
NM_001204.7(BMPR2):c.793G>T (p.Glu265Ter) rs1414031345
NM_001204.7(BMPR2):c.794A>G (p.Glu265Gly) rs1085307259
NM_001204.7(BMPR2):c.795_796delinsTT (p.Glu265_Arg266delinsAspTer) rs1085307260
NM_001204.7(BMPR2):c.796_799del (p.Arg266fs) rs1085307261
NM_001204.7(BMPR2):c.798_799dup (p.Val267fs)
NM_001204.7(BMPR2):c.802dup (p.Thr268fs) rs1085307262
NM_001204.7(BMPR2):c.804del (p.Ala269fs) rs1085307263
NM_001204.7(BMPR2):c.823dup (p.Tyr275fs) rs1574488484
NM_001204.7(BMPR2):c.82C>T (p.Gln28Ter) rs1085307160
NM_001204.7(BMPR2):c.830T>C (p.Leu277Pro) rs1085307265
NM_001204.7(BMPR2):c.843C>G (p.Tyr281Ter) rs1574488490
NM_001204.7(BMPR2):c.846T>A (p.Tyr282Ter) rs863223419
NM_001204.7(BMPR2):c.852+1G>A rs1085307266
NM_001204.7(BMPR2):c.852+1G>C rs1085307266
NM_001204.7(BMPR2):c.852_852+1insA rs1574488501
NM_001204.7(BMPR2):c.853-1G>A rs1085307267
NM_001204.7(BMPR2):c.853-1G>C rs1085307267
NM_001204.7(BMPR2):c.855del (p.Ser286fs) rs1085307268
NM_001204.7(BMPR2):c.860T>A (p.Leu287Ter) rs576091247
NM_001204.7(BMPR2):c.860T>G (p.Leu287Ter)
NM_001204.7(BMPR2):c.871_872dup (p.Leu291fs)
NM_001204.7(BMPR2):c.872T>G (p.Leu291Ter) rs1085307269
NM_001204.7(BMPR2):c.872del (p.Tyr290_Leu291insTer) rs1085307270
NM_001204.7(BMPR2):c.88C>T (p.Gln30Ter) rs1085307161
NM_001204.7(BMPR2):c.893G>A (p.Trp298Ter) rs1085307271
NM_001204.7(BMPR2):c.894G>A (p.Trp298Ter) rs2106008336
NM_001204.7(BMPR2):c.894_895dup (p.Val299fs) rs1085307272
NM_001204.7(BMPR2):c.897_903del (p.Ser300fs) rs2106008354
NM_001204.7(BMPR2):c.91G>T (p.Glu31Ter) rs1085307162
NM_001204.7(BMPR2):c.928A>T (p.Arg310Ter) rs1085307273
NM_001204.7(BMPR2):c.932G>A (p.Gly311Glu) rs1085307274
NM_001204.7(BMPR2):c.937G>C (p.Ala313Pro) rs1085307275
NM_001204.7(BMPR2):c.93_94insT (p.Arg32fs) rs1574462520
NM_001204.7(BMPR2):c.961C>T (p.Arg321Ter) rs1060502581
NM_001204.7(BMPR2):c.961del (p.Arg321fs) rs1085307276
NM_001204.7(BMPR2):c.967+2T>C rs1085307277
NM_001204.7(BMPR2):c.967+4del rs1085307278
NM_001204.7(BMPR2):c.967+5G>C rs1085307279
NM_001204.7(BMPR2):c.967+5G>T rs1085307279
NM_001204.7(BMPR2):c.968-1G>T rs1085307282
NM_001204.7(BMPR2):c.968-2A>C rs1085307281
NM_001204.7(BMPR2):c.968-3C>G rs1085307280
NM_001204.7(BMPR2):c.968-5A>G rs1060502584
NM_001204.7(BMPR2):c.969dup (p.His324fs) rs1085307283
NM_001204.7(BMPR2):c.978del (p.Lys326fs)
NM_001204.7(BMPR2):c.980del (p.Pro327fs) rs1085307284
NM_001204.7(BMPR2):c.992A>G (p.His331Arg) rs1085307285
NM_001204.7(BMPR2):c.994C>T (p.Arg332Ter) rs137852751
NM_001204.7(BMPR2):c.9dup (p.Ser4fs) rs1085307145
NM_001206641.3(COA6):c.267G>C (p.Trp89Cys) rs1558123786
NM_001206641.3(COA6):c.286T>C (p.Trp96Arg) rs875989827
NM_001232.4(CASQ2):c.1014+1G>A rs1654250819
NM_001232.4(CASQ2):c.1017dup (p.Asp340Ter) rs1553191909
NM_001232.4(CASQ2):c.1028G>A (p.Trp343Ter)
NM_001232.4(CASQ2):c.1082G>A (p.Trp361Ter)
NM_001232.4(CASQ2):c.115G>T (p.Glu39Ter) rs756636650
NM_001232.4(CASQ2):c.199C>T (p.Gln67Ter)
NM_001232.4(CASQ2):c.205C>T (p.Gln69Ter)
NM_001232.4(CASQ2):c.244C>T (p.Gln82Ter)
NM_001232.4(CASQ2):c.2T>C (p.Met1Thr) rs1553197939
NM_001232.4(CASQ2):c.31del (p.Ile11fs)
NM_001232.4(CASQ2):c.339_354del (p.Ser113fs) rs786205106
NM_001232.4(CASQ2):c.381C>T (p.Gly127=) rs775663612
NM_001232.4(CASQ2):c.3G>A (p.Met1Ile)
NM_001232.4(CASQ2):c.414_415del (p.Leu139fs)
NM_001232.4(CASQ2):c.466C>T (p.Gln156Ter) rs1648034747
NM_001232.4(CASQ2):c.475G>T (p.Glu159Ter) rs375598471
NM_001232.4(CASQ2):c.500T>A (p.Leu167His) rs121434550
NM_001232.4(CASQ2):c.537C>A (p.Tyr179Ter)
NM_001232.4(CASQ2):c.546del (p.Phe182fs) rs763955301
NM_001232.4(CASQ2):c.62del (p.Glu21fs) rs397507555
NM_001232.4(CASQ2):c.715G>T (p.Glu239Ter) rs1647617368
NM_001232.4(CASQ2):c.737+1G>A
NM_001232.4(CASQ2):c.737+2T>A rs1366771173
NM_001232.4(CASQ2):c.754del (p.Leu252fs)
NM_001232.4(CASQ2):c.781del (p.Trp261fs)
NM_001232.4(CASQ2):c.846C>A (p.Tyr282Ter)
NM_001232.4(CASQ2):c.856G>T (p.Glu286Ter) rs1471576368
NM_001232.4(CASQ2):c.919G>C (p.Asp307His) rs121434549
NM_001232.4(CASQ2):c.925del (p.Asp309fs)
NM_001232.4(CASQ2):c.939+5G>C rs746128346
NM_001232.4(CASQ2):c.974_983del (p.Asp325fs)
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001232.4(CASQ2):c.988C>T (p.Gln330Ter) rs767023791
NM_001243133.2(NLRP3):c.29G>T (p.Arg10Met) rs2103083622
NM_001256071.3(RNF213):c.12353C>T (p.Ser4118Phe) rs2079443410
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn) rs768740459
NM_001256850.1(TTN):c.86916dup (p.Val28973fs) rs730880365
NM_001260.3(CDK8):c.185C>A (p.Ser62Ter) rs1565977796
NM_001267550.2(TTN):c.100446dup (p.Glu33483fs) rs878854281
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.10115-1G>A rs2088245783
NM_001267550.2(TTN):c.101687C>A (p.Ser33896Ter) rs376813674
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.103043_103044insA (p.Thr34349fs) rs1690115787
NM_001267550.2(TTN):c.103354C>T (p.Gln34452Ter)
NM_001267550.2(TTN):c.103360del (p.Glu34454fs) rs760768093
NM_001267550.2(TTN):c.103737_103738insCA (p.Met34580fs) rs2154134687
NM_001267550.2(TTN):c.103749del (p.Lys34583fs) rs1689787372
NM_001267550.2(TTN):c.104269C>T (p.Gln34757Ter) rs2154134221
NM_001267550.2(TTN):c.104509_104510del (p.Leu34837fs)
NM_001267550.2(TTN):c.104974_104995dup (p.Leu34999fs) rs2154133662
NM_001267550.2(TTN):c.105423C>G (p.Tyr35141Ter) rs534484592
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs) rs199469665
NM_001267550.2(TTN):c.106137dup (p.Lys35380Ter) rs886044460
NM_001267550.2(TTN):c.106358G>A (p.Trp35453Ter) rs922408768
NM_001267550.2(TTN):c.106531+1G>A rs760915007
NM_001267550.2(TTN):c.106541del (p.Asp35514fs) rs2154131647
NM_001267550.2(TTN):c.106629del (p.Ala35544fs) rs869312069
NM_001267550.2(TTN):c.107377+1G>C rs112188483
NM_001267550.2(TTN):c.107780_107790delinsTGAAAGAAAAA (p.Glu35927_Trp35930delinsValLysGluLys) rs281864927
NM_001267550.2(TTN):c.107889del (p.Lys35963fs) rs281864930
NM_001267550.2(TTN):c.12870dup (p.Val4291fs) rs869025556
NM_001267550.2(TTN):c.13108C>T (p.Gln4370Ter) rs267607158
NM_001267550.2(TTN):c.13592C>G (p.Ser4531Ter) rs2154317682
NM_001267550.2(TTN):c.15496+1G>A rs397517481
NM_001267550.2(TTN):c.1771C>T (p.Gln591Ter) rs747286444
NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter) rs1578126437
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.2663_2669delinsCTTCAC (p.Asp888fs) rs2093000714
NM_001267550.2(TTN):c.29094_29095del (p.Phe9700fs) rs1553882262
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) rs267607155
NM_001267550.2(TTN):c.29963-1G>C rs1560513651
NM_001267550.2(TTN):c.3073dup (p.Ser1025fs) rs2154350008
NM_001267550.2(TTN):c.33826+1G>A rs1389908421
NM_001267550.2(TTN):c.34253_34277del (p.Leu11418fs) rs1373610867
NM_001267550.2(TTN):c.34922del (p.Pro11641fs) rs1553809971
NM_001267550.2(TTN):c.35756del (p.Pro11919fs) rs1241310204
NM_001267550.2(TTN):c.40238dup (p.Tyr13414fs) rs2154244761
NM_001267550.2(TTN):c.40409-2A>C rs1560046529
NM_001267550.2(TTN):c.40558G>C (p.Val13520Leu) rs587780488
NM_001267550.2(TTN):c.41118del (p.Phe13706fs) rs878854305
NM_001267550.2(TTN):c.41473C>T (p.Arg13825Ter) rs869312043
NM_001267550.2(TTN):c.41608+1G>T rs2154230056
NM_001267550.2(TTN):c.42205C>T (p.Arg14069Ter) rs2060187635
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.46455del (p.Pro15486fs) rs2154210615
NM_001267550.2(TTN):c.47137_47138del (p.Ser15713fs) rs886039125
NM_001267550.2(TTN):c.4724_4728del (p.Met1575fs) rs756433029
NM_001267550.2(TTN):c.47314C>T (p.Arg15772Ter) rs2154209202
NM_001267550.2(TTN):c.47692C>T (p.Arg15898Ter) rs775186117
NM_001267550.2(TTN):c.47961del (p.Gly15988fs) rs1553707780
NM_001267550.2(TTN):c.49345+1G>A rs2056846558
NM_001267550.2(TTN):c.49669A>T (p.Lys16557Ter) rs2154200779
NM_001267550.2(TTN):c.50083C>T (p.Arg16695Ter) rs751502842
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter) rs754866489
NM_001267550.2(TTN):c.51244dup (p.Tyr17082fs) rs1576402791
NM_001267550.2(TTN):c.51436+1G>T rs761807131
NM_001267550.2(TTN):c.51436+2T>C
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter) rs906494713
NM_001267550.2(TTN):c.51525del (p.Ser17177fs) rs1553692435
NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter) rs1553692290
NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter) rs1131691655
NM_001267550.2(TTN):c.51739+1G>C rs727504799
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.53393del (p.Gly17798fs) rs794729324
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.53918del (p.Gly17973fs) rs1486129583
NM_001267550.2(TTN):c.54000G>A (p.Trp18000Ter) rs72646813
NM_001267550.2(TTN):c.54067C>T (p.Arg18023Ter) rs1553682168
NM_001267550.2(TTN):c.54190+1G>A rs756339648
NM_001267550.2(TTN):c.54190+1G>T
NM_001267550.2(TTN):c.54406_54409del (p.Gln18136fs)
NM_001267550.2(TTN):c.54809del (p.Ile18270fs) rs2154194604
NM_001267550.2(TTN):c.55351C>T (p.Arg18451Ter) rs1440093502
NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter) rs1477101279
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57545-2A>G
NM_001267550.2(TTN):c.58240_58244del (p.Pro19414fs) rs2154187022
NM_001267550.2(TTN):c.58270G>T (p.Glu19424Ter) rs72646837
NM_001267550.2(TTN):c.58838del (p.Tyr19613fs) rs1576141328
NM_001267550.2(TTN):c.58870C>T (p.Arg19624Ter) rs1553649171
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.59926+1G>C
NM_001267550.2(TTN):c.60307A>T (p.Arg20103Ter) rs1553644307
NM_001267550.2(TTN):c.60579G>A (p.Trp20193Ter) rs2050116026
NM_001267550.2(TTN):c.61495C>T (p.Arg20499Ter) rs869312112
NM_001267550.2(TTN):c.61555C>T (p.Arg20519Ter) rs794729278
NM_001267550.2(TTN):c.62506C>T (p.Arg20836Ter) rs757231565
NM_001267550.2(TTN):c.63010G>T (p.Glu21004Ter) rs769345390
NM_001267550.2(TTN):c.63049_63050dup (p.Ile21018fs) rs1559561666
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.64011C>A (p.Tyr21337Ter) rs1553636324
NM_001267550.2(TTN):c.64038T>G (p.Tyr21346Ter) rs1161735211
NM_001267550.2(TTN):c.64252_64253insGAGTA (p.Tyr21418Ter)
NM_001267550.2(TTN):c.64397-2del
NM_001267550.2(TTN):c.64453C>T (p.Arg21485Ter) rs768345594
NM_001267550.2(TTN):c.64999C>T (p.Arg21667Ter) rs794729280
NM_001267550.2(TTN):c.65146dup (p.Ser21716fs) rs2154179780
NM_001267550.2(TTN):c.65837C>G (p.Ser21946Ter)
NM_001267550.2(TTN):c.65890A>T (p.Lys21964Ter) rs2048015439
NM_001267550.2(TTN):c.66618C>A (p.Cys22206Ter) rs397517664
NM_001267550.2(TTN):c.66769+2T>A rs1060500483
NM_001267550.2(TTN):c.669+1G>A rs1574982376
NM_001267550.2(TTN):c.67174C>T (p.Gln22392Ter) rs2154176072
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter) rs1200988060
NM_001267550.2(TTN):c.67348C>T (p.Gln22450Ter) rs1403485272
NM_001267550.2(TTN):c.67637-1G>C rs886038831
NM_001267550.2(TTN):c.68022del (p.Glu22675fs) rs2047085522
NM_001267550.2(TTN):c.68286_68289dup (p.Trp22764fs) rs2154174801
NM_001267550.2(TTN):c.68302A>T (p.Lys22768Ter) rs2154174786
NM_001267550.2(TTN):c.68308del (p.Thr22770fs) rs1064796112
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.68463_68466dup (p.Leu22823fs)
NM_001267550.2(TTN):c.68823C>A (p.Tyr22941Ter) rs200717463
NM_001267550.2(TTN):c.69522T>G (p.Tyr23174Ter) rs2154173235
NM_001267550.2(TTN):c.69553C>T (p.Arg23185Ter) rs878854328
NM_001267550.2(TTN):c.70051C>T (p.Arg23351Ter) rs1060500575
NM_001267550.2(TTN):c.70162C>T (p.Arg23388Ter) rs781540455
NM_001267550.2(TTN):c.70978C>T (p.Arg23660Ter) rs1553612386
NM_001267550.2(TTN):c.71437_71440dup (p.Thr23814fs) rs1709445083
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.71980_71986delinsTA (p.Ala23994_Glu23996delinsTer) rs794729338
NM_001267550.2(TTN):c.72663del (p.Pro24223fs) rs1575775337
NM_001267550.2(TTN):c.72848_72849del (p.Lys24283fs) rs794729339
NM_001267550.2(TTN):c.72856G>T (p.Gly24286Ter) rs1198682781
NM_001267550.2(TTN):c.73568del (p.Pro24523fs) rs1559415567
NM_001267550.2(TTN):c.73845del (p.Glu24615fs) rs397517696
NM_001267550.2(TTN):c.74338C>T (p.Arg24780Ter) rs794729285
NM_001267550.2(TTN):c.74368_74376delinsTAAG (p.Leu24790_Asn24792delinsTer) rs1064796390
NM_001267550.2(TTN):c.74444del (p.Pro24815fs)
NM_001267550.2(TTN):c.7501C>T (p.Arg2501Ter) rs781459488
NM_001267550.2(TTN):c.75138_75141del (p.Lys25046fs) rs794729340
NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter) rs1553603394
NM_001267550.2(TTN):c.75546C>A (p.Tyr25182Ter) rs1553603152
NM_001267550.2(TTN):c.75633_75636dup (p.Val25213fs) rs1553603036
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.76115dup (p.Asn25372fs) rs774604740
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs) rs878854335
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) rs794729343
NM_001267550.2(TTN):c.77120_77121del (p.Val25707fs)
NM_001267550.2(TTN):c.77646del (p.Ile25883fs) rs2154167034
NM_001267550.2(TTN):c.78095_78098del (p.Arg26032fs) rs869312117
NM_001267550.2(TTN):c.78855_78858del (p.Arg26286fs) rs794729346
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter) rs779996703
NM_001267550.2(TTN):c.79294C>T (p.Arg26432Ter) rs774411587
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter) rs869025545
NM_001267550.2(TTN):c.80380C>T (p.Gln26794Ter) rs2154165062
NM_001267550.2(TTN):c.80514del (p.Val26839fs) rs2154164951
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.81274C>T (p.Gln27092Ter) rs2154163535
NM_001267550.2(TTN):c.81321C>G (p.Tyr27107Ter) rs557312035
NM_001267550.2(TTN):c.81341dup (p.Asn27115fs) rs1575663327
NM_001267550.2(TTN):c.81942del (p.Glu27315fs)
NM_001267550.2(TTN):c.82036C>T (p.Gln27346Ter) rs886042331
NM_001267550.2(TTN):c.82639G>T (p.Glu27547Ter) rs779874042
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.83497G>T (p.Gly27833Ter) rs2154160857
NM_001267550.2(TTN):c.83515C>T (p.Arg27839Ter) rs869312118
NM_001267550.2(TTN):c.84819G>A (p.Trp28273Ter) rs72648222
NM_001267550.2(TTN):c.85008_85011del (p.Glu28338fs) rs869312100
NM_001267550.2(TTN):c.85011_85014del (p.Glu28338fs) rs2154159327
NM_001267550.2(TTN):c.85295del (p.Leu28432fs) rs1575616801
NM_001267550.2(TTN):c.85511_85512del (p.Glu28504fs)
NM_001267550.2(TTN):c.85519dup (p.Met28507fs) rs1575614351
NM_001267550.2(TTN):c.85768C>T (p.Arg28590Ter) rs748689777
NM_001267550.2(TTN):c.85969A>T (p.Lys28657Ter) rs72648224
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) rs1285329277
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter) rs794729384
NM_001267550.2(TTN):c.86168del (p.Phe28723fs)
NM_001267550.2(TTN):c.86363G>A (p.Trp28788Ter) rs1064793814
NM_001267550.2(TTN):c.86387_86391del (p.Arg28796fs) rs794729354
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.86821+1G>A rs1702741860
NM_001267550.2(TTN):c.87355del (p.Ala29119fs) rs794729356
NM_001267550.2(TTN):c.87559G>T (p.Glu29187Ter) rs1060500586
NM_001267550.2(TTN):c.87624C>G (p.Tyr29208Ter)
NM_001267550.2(TTN):c.88462dup (p.Cys29488fs) rs2154153413
NM_001267550.2(TTN):c.88594+1G>T rs794727467
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter) rs766450773
NM_001267550.2(TTN):c.89017C>T (p.Arg29673Ter) rs886038916
NM_001267550.2(TTN):c.89197+2T>G rs1575536935
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter) rs1553539995
NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter) rs974510652
NM_001267550.2(TTN):c.91034G>A (p.Trp30345Ter) rs1575512482
NM_001267550.2(TTN):c.9163+1G>C rs1060500549
NM_001267550.2(TTN):c.91920G>A (p.Trp30640Ter) rs1698600051
NM_001267550.2(TTN):c.92001G>A (p.Trp30667Ter)
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter) rs869312065
NM_001267550.2(TTN):c.92812dup (p.Arg30938fs) rs1559173391
NM_001267550.2(TTN):c.92877G>A (p.Trp30959Ter) rs2154147664
NM_001267550.2(TTN):c.93088del (p.Arg31030fs) rs2154147488
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.94103_94107del (p.Ile31368fs) rs769488730
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter) rs1697595705
NM_001267550.2(TTN):c.94344_94347del (p.Lys31448fs) rs727503546
NM_001267550.2(TTN):c.94754T>G (p.Leu31585Ter) rs2154146081
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg) rs869320741
NM_001267550.2(TTN):c.95187G>C (p.Trp31729Cys) rs869320742
NM_001267550.2(TTN):c.95341C>T (p.Arg31781Ter) rs780414947
NM_001267550.2(TTN):c.95351C>T (p.Ala31784Val) rs1553520967
NM_001267550.2(TTN):c.95370_95387del (p.Gly31791_Ser31796del)
NM_001267550.2(TTN):c.95372G>A (p.Gly31791Asp) rs869320744
NM_001267550.2(TTN):c.9577C>T (p.Arg3193Ter) rs746115846
NM_001267550.2(TTN):c.95872C>T (p.Arg31958Ter) rs2154144218
NM_001267550.2(TTN):c.96901del (p.Arg32301fs)
NM_001267550.2(TTN):c.97492+1G>A rs727505319
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001267550.2(TTN):c.97492+1G>T rs727505319
NM_001267550.2(TTN):c.97560G>A (p.Trp32520Ter) rs1694489284
NM_001267550.2(TTN):c.98633dup (p.Ser32879fs)
NM_001267550.2(TTN):c.98994del (p.Lys32998fs) rs727504535
NM_001267550.2(TTN):c.99874del (p.Asp33292fs)
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn) rs121964855
NM_001276345.2(TNNT2):c.310C>A (p.Arg104Ser)
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) rs397516457
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
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.321G>C (p.Lys107Asn)
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001276345.2(TNNT2):c.328_333del (p.Asn110_Glu111del) rs1571627587
NM_001276345.2(TNNT2):c.332A>G (p.Glu111Gly)
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.422G>A (p.Arg141Gln) rs397516464
NM_001276345.2(TNNT2):c.430C>G (p.Arg144Gly) rs45525839
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His) rs397516466
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001276345.2(TNNT2):c.506G>A (p.Arg169Gln) rs45501500
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001276345.2(TNNT2):c.517G>A (p.Glu173Lys) rs1558225569
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.548G>T (p.Arg183Leu) rs397516471
NM_001276345.2(TNNT2):c.566C>T (p.Ser189Phe) rs727504246
NM_001276345.2(TNNT2):c.616C>T (p.Arg206Trp) rs730881106
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp) rs45586240
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) rs121964860
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.844dup (p.Gln282fs) rs730881119
NM_001276345.2(TNNT2):c.851+1G>A rs111377893
NM_001276345.2(TNNT2):c.851+1G>C rs111377893
NM_001276345.2(TNNT2):c.851+1G>T rs111377893
NM_001276345.2(TNNT2):c.863G>C (p.Arg288Pro) rs397516484
NM_001276345.2(TNNT2):c.891G>A (p.Trp297Ter) rs730881116
NM_001278939.1(ELN):c.748del rs1793092853
NM_001281740.3(FHOD3):c.1580_1582del (p.Ser527del) rs1205890585
NM_001281740.3:c.1836-1527_2022-2042del
NM_001282225.2(ADA2):c.1040del (p.Asp347fs) rs2062064773
NM_001282225.2(ADA2):c.1055del (p.Pro352fs)
NM_001282225.2(ADA2):c.1058_1061del (p.Tyr353fs)
NM_001282225.2(ADA2):c.1110C>A (p.Asn370Lys) rs1489114116
NM_001282225.2(ADA2):c.1148G>A (p.Gly383Asp)
NM_001282225.2(ADA2):c.1196G>A (p.Trp399Ter) rs1568966771
NM_001282225.2(ADA2):c.1225C>T (p.Pro409Ser) rs777618863
NM_001282225.2(ADA2):c.1303_1319del (p.His434_Pro435insTer)
NM_001282225.2(ADA2):c.1362_1370del (p.Asp454_Tyr456del) rs1452477558
NM_001282225.2(ADA2):c.1373T>A (p.Val458Asp) rs748893301
NM_001282225.2(ADA2):c.137dup (p.Arg49fs)
NM_001282225.2(ADA2):c.1397_1403del (p.Lys466fs) rs754904956
NM_001282225.2(ADA2):c.139G>C (p.Gly47Arg) rs202134424
NM_001282225.2(ADA2):c.139G>T (p.Gly47Trp) rs202134424
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala) rs200930463
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001282225.2(ADA2):c.1430dup (p.Met477fs) rs2061972270
NM_001282225.2(ADA2):c.1447_1451del (p.Ser483fs) rs1601419986
NM_001282225.2(ADA2):c.144del (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.144dup (p.Arg49fs) rs756881285
NM_001282225.2(ADA2):c.158del (p.Asn53fs) rs2062393838
NM_001282225.2(ADA2):c.239del (p.Phe80fs)
NM_001282225.2(ADA2):c.271del (p.His91fs) rs2062392148
NM_001282225.2(ADA2):c.2T>A (p.Met1Lys) rs745795188
NM_001282225.2(ADA2):c.326C>A (p.Ala109Asp) rs587777240
NM_001282225.2(ADA2):c.39C>A (p.Cys13Ter)
NM_001282225.2(ADA2):c.505C>T (p.Arg169Trp) rs775997344
NM_001282225.2(ADA2):c.611G>A (p.Trp204Ter)
NM_001282225.2(ADA2):c.631TTC[1] (p.Phe212del) rs2123699776
NM_001282225.2(ADA2):c.660C>A (p.Tyr220Ter)
NM_001282225.2(ADA2):c.660C>G (p.Tyr220Ter)
NM_001282225.2(ADA2):c.661_664del (p.Ala221fs) rs766602945
NM_001282225.2(ADA2):c.753+2T>A
NM_001282225.2(ADA2):c.791G>C (p.Trp264Ser) rs587777242
NM_001282225.2(ADA2):c.881+1G>A rs2123651193
NM_001282225.2(ADA2):c.882-2A>G rs2062095528
NM_001282225.2(ADA2):c.[1196G>A;1367A>G]
NM_001289808.2(CRYAB):c.145del (p.Leu49fs) rs1965456387
NM_001289808.2(CRYAB):c.295G>T (p.Glu99Ter) rs1965414571
NM_001289808.2(CRYAB):c.326A>G (p.Asp109Gly) rs1114167341
NM_001289808.2(CRYAB):c.76C>T (p.Gln26Ter) rs1965461881
NM_001291303.3(FAT4):c.1195del (p.Leu399fs) rs587777725
NM_001291303.3(FAT4):c.13588C>T (p.Gln4530Ter)
NM_001291303.3(FAT4):c.7035TGGAAC[3] (p.2346GT[3]) rs587777724
NM_001291303.3(FAT4):c.7123G>A (p.Glu2375Lys) rs398122955
NM_001291303.3(FAT4):c.7204A>C (p.Arg2402=) rs587777726
NM_001292034.3(TAB2):c.1056del (p.Ser353fs)
NM_001292034.3(TAB2):c.1105dup (p.Ile369fs)
NM_001292034.3(TAB2):c.1321C>T (p.Arg441Ter) rs1554263321
NM_001292034.3(TAB2):c.1354C>T (p.Arg452Ter) rs2114887942
NM_001292034.3(TAB2):c.1398dup (p.Thr467fs) rs1781524947
NM_001292034.3(TAB2):c.1462dup (p.Thr488fs)
NM_001292034.3(TAB2):c.1491T>A (p.Tyr497Ter) rs1562443558
NM_001292034.3(TAB2):c.1491T>G (p.Tyr497Ter) rs1562443558
NM_001292034.3(TAB2):c.1547_1551del (p.Arg516fs)
NM_001292034.3(TAB2):c.1572del (p.Ser524fs)
NM_001292034.3(TAB2):c.1764+1G>A rs1782223593
NM_001292034.3(TAB2):c.446C>G (p.Ser149Ter) rs2114883576
NM_001292034.3(TAB2):c.473_474del (p.His158fs)
NM_001292034.3(TAB2):c.622_626del (p.Pro208fs) rs1781486601
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001308093.3(GATA4):c.1000+103G>T rs113049875
NM_001308093.3(GATA4):c.1000+2T>G rs864321705
NM_001308093.3(GATA4):c.1001-26G>A rs1554498708
NM_001308093.3(GATA4):c.1078G>T (p.Glu360Ter) rs368489876
NM_001308093.3(GATA4):c.1078del (p.Glu360fs) rs1585703301
NM_001308093.3(GATA4):c.1149+129C>T rs116052854
NM_001308093.3(GATA4):c.1149+177C>T rs12156163
NM_001308093.3(GATA4):c.1266C>T (p.Ser422=) rs864321704
NM_001308093.3(GATA4):c.127C>T (p.Arg43Trp) rs387906770
NM_001308093.3(GATA4):c.1328C>T (p.Ala443Val) rs146017816
NM_001308093.3(GATA4):c.155C>T (p.Ser52Phe) rs104894074
NM_001308093.3(GATA4):c.23C>A (p.Ala8Asp) rs864321698
NM_001308093.3(GATA4):c.266G>A (p.Trp89Ter) rs2130068999
NM_001308093.3(GATA4):c.27C>A (p.Ala9=) rs864321703
NM_001308093.3(GATA4):c.357CGC[5] (p.Ala126dup) rs1182566703
NM_001308093.3(GATA4):c.383A>T (p.Glu128Val) rs864321700
NM_001308093.3(GATA4):c.397A>T (p.Ser133Cys) rs864321701
NM_001308093.3(GATA4):c.409G>T (p.Gly137Ter)
NM_001308093.3(GATA4):c.48_71del (p.Tyr18_Ala25del) rs1453901762
NM_001308093.3(GATA4):c.54C>A (p.Tyr18Ter) rs1799991762
NM_001308093.3(GATA4):c.54C>G (p.Tyr18Ter) rs1799991762
NM_001308093.3(GATA4):c.655_656del (p.Val219fs)
NM_001308093.3(GATA4):c.685T>A (p.Trp229Arg) rs864321702
NM_001308093.3(GATA4):c.687G>C (p.Trp229Cys) rs1585684790
NM_001308093.3(GATA4):c.691C>T (p.Arg231Ter) rs2130307055
NM_001308093.3(GATA4):c.842C>T (p.Thr281Met) rs387906771
NM_001308093.3(GATA4):c.851G>A (p.Arg284His) rs180765750
NM_001308093.3(GATA4):c.854G>A (p.Arg285His) rs2130313276
NM_001308093.3(GATA4):c.887G>C (p.Cys296Ser)
NM_001308093.3(GATA4):c.889G>A (p.Gly297Ser) rs104894073
NM_001308093.3(GATA4):c.889G>C (p.Gly297Arg) rs104894073
NM_001308093.3(GATA4):c.889G>T (p.Gly297Cys) rs104894073
NM_001308093.3(GATA4):c.913-55T>C rs1554498312
NM_001308093.3(GATA4):c.923C>G (p.Pro308Arg)
NM_001308093.3(GATA4):c.931A>G (p.Met311Val) rs387906772
NM_001308093.3(GATA4):c.949C>G (p.Gln317Glu) rs56298569
NM_001319206.4(MEF2A):c.1313_1333del (p.Gln438_Pro444del)
NM_001321120.2(TBX4):c.1057C>T (p.Arg353Ter) rs1603256040
NM_001321120.2(TBX4):c.251del (p.Gly84fs) rs1603248606
NM_001321120.2(TBX4):c.402G>A (p.Trp134Ter) rs1603251494
NM_001321120.2(TBX4):c.985G>T (p.Asp329Tyr) rs150233337
NM_001347702.2(SYNE1):c.1473T>G (p.Tyr491Ter)
NM_001349338.3(FOXP1):c.1778C>A (p.Pro593His) rs2034683194
NM_001354640.2(CIROP):c.1166G>T (p.Arg389Ile) rs2140282332
NM_001354640.2(CIROP):c.1364TCT[1] (p.Phe456del) rs1392604380
NM_001354640.2(CIROP):c.571C>T (p.Arg191Ter) rs764530848
NM_001364075.2(CCNH):c.934-28498_934-28494del
NM_001365536.1(SCN9A):c.1867G>A (p.Asp623Asn) rs200398202
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) rs80356474
NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe) rs80356476
NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His) rs80356475
NM_001365536.1(SCN9A):c.3452dup (p.Glu1152fs) rs2106426285
NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val) rs80356478
NM_001365536.1(SCN9A):c.647T>C (p.Phe216Ser) rs80356469
NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr) rs80356470
NM_001367549.1(ATP13A3):c.2227C>T (p.Arg743Cys) rs2108829926
NM_001367549.1(ATP13A3):c.2563G>A (p.Val855Met) rs1489314131
NM_001367549.1(ATP13A3):c.3079dup (p.Trp1027fs) rs746602775
NM_001367549.1(ATP13A3):c.3685G>T (p.Glu1229Ter) rs200914446
NM_001368067.1(LDB3):c.383A>T (p.Lys128Met) rs121908339
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val) rs121908334
NM_001370259.2(MEN1):c.654+1del rs1057518903
NM_001370466.1(NOD2):c.964C>T (p.Leu322Phe) rs752615209
NM_001372.4(DNAH9):c.4030C>T (p.Arg1344Ter)
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser) rs397507473
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_001374736.1(DST):c.5850del (p.Pro1950_Val1951insTer)
NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter) rs797045283
NM_001376571.1(MADD):c.4109T>A (p.Leu1370Ter) rs2140853464
NM_001378328.1(CELSR1):c.5121dup (p.Ile1708fs) rs2147324428
NM_001378328.1(CELSR1):c.5226+2T>A rs1569141899
NM_001378328.1(CELSR1):c.5871G>A (p.Trp1957Ter) rs2147265140
NM_001378328.1(CELSR1):c.6739+1G>A rs1569124017
NM_001378328.1(CELSR1):c.868G>T (p.Glu290Ter) rs1569227576
NM_001378969.1(KCND3):c.1174G>A (p.Val392Ile) rs786205867
NM_001379200.1(TBX1):c.1015C>T (p.Gln339Ter)
NM_001379200.1(TBX1):c.1027del (p.Thr343fs)
NM_001379200.1(TBX1):c.1063C>T (p.Gln355Ter) rs1936845711
NM_001379200.1(TBX1):c.1117del (p.Leu373fs) rs2145838229
NM_001379200.1(TBX1):c.1179_1180insAG (p.Leu394fs) rs1936852915
NM_001379200.1(TBX1):c.1206_1207insGAACCCCGAGC (p.Ser403fs)
NM_001379200.1(TBX1):c.1250del (p.Ser417fs) rs1601294362
NM_001379200.1(TBX1):c.1252G>T (p.Glu418Ter)
NM_001379200.1(TBX1):c.1326_1348del (p.Pro444fs)
NM_001379200.1(TBX1):c.1426_1455dup (p.Ala485_Asn486insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) rs746335599
NM_001379200.1(TBX1):c.186C>A (p.Cys62Ter) rs2145827917
NM_001379200.1(TBX1):c.195_229del (p.Ala66fs) rs2145827929
NM_001379200.1(TBX1):c.198_229dup (p.His77fs)
NM_001379200.1(TBX1):c.199_224del (p.Pro67fs) rs1936640897
NM_001379200.1(TBX1):c.199_227del (p.Pro67fs)
NM_001379200.1(TBX1):c.201dup (p.Gly68fs)
NM_001379200.1(TBX1):c.243del (p.Phe81fs)
NM_001379200.1(TBX1):c.319A>T (p.Lys107Ter) rs1555895466
NM_001379200.1(TBX1):c.470T>A (p.Phe157Tyr) rs28939675
NM_001379200.1(TBX1):c.609C>G (p.His203Gln) rs74315522
NM_001379200.1(TBX1):c.711+1G>A rs1731409120
NM_001379200.1(TBX1):c.794_798dup (p.Glu267fs) rs2145835194
NM_001379200.1(TBX1):c.881del (p.Lys294fs) rs2145836457
NM_001379200.1(TBX1):c.89_284del (p.Leu30fs) rs1936634853
NM_001384125.1(BLTP1):c.9153del (p.Val3052fs) rs1773935759
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_001451.3(FOXF1):c.1031_1032del (p.Phe344fs) rs1597292524
NM_001451.3(FOXF1):c.1057_1078dup (p.Gly360fs) rs1969592103
NM_001451.3(FOXF1):c.1070_1080del (p.His357fs)
NM_001451.3(FOXF1):c.1138T>C (p.Ter380Arg) rs121909337
NM_001451.3(FOXF1):c.1139G>C (p.Ter380Ser) rs1597292620
NM_001451.3(FOXF1):c.145C>G (p.Pro49Ala) rs1597291206
NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser) rs1597291206
NM_001451.3(FOXF1):c.185A>C (p.Gln62Pro)
NM_001451.3(FOXF1):c.191C>A (p.Ser64Ter) rs1597291235
NM_001451.3(FOXF1):c.21del (p.Lys7fs)
NM_001451.3(FOXF1):c.221T>A (p.Ile74Asn) rs1597291255
NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter) rs121909336
NM_001451.3(FOXF1):c.238_239del (p.Ser80fs) rs1969549826
NM_001451.3(FOXF1):c.253T>C (p.Phe85Leu) rs1969550135
NM_001451.3(FOXF1):c.276G>A (p.Trp92Ter) rs2143184846
NM_001451.3(FOXF1):c.294C>A (p.His98Gln) rs1597291300
NM_001451.3(FOXF1):c.302C>T (p.Ser101Leu) rs1969550671
NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu) rs1597291318
NM_001451.3(FOXF1):c.539C>A (p.Ser180Ter) rs1481006723
NM_001451.3(FOXF1):c.57_60del (p.Gly20fs) rs1969545531
NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter) rs1393788111
NM_001451.3(FOXF1):c.691_698del (p.Ala231fs) rs1597291554
NM_001451.3(FOXF1):c.797C>A (p.Ser266Ter)
NM_001451.3(FOXF1):c.849_850del (p.Ile285fs) rs1597291710
NM_001451.3(FOXF1):c.850dup (p.Tyr284fs) rs2143186824
NM_001451.3(FOXF1):c.852_856del (p.Tyr284_Lys286delinsTer) rs2143186831
NM_001451.3(FOXF1):c.862C>T (p.Gln288Ter) rs1597291719
NM_001451.3(FOXF1):c.872_879del (p.Leu290_Ser291insTer) rs1597291722
NM_001451.3(FOXF1):c.881_902dup (p.Gly302fs)
NM_001451.3(FOXF1):c.889del (p.Ala297fs) rs2143187004
NM_001451.3(FOXF1):c.899_903dup (p.Gly302fs) rs1597291767
NM_001451.3(FOXF1):c.89C>A (p.Ser30Ter) rs376766270
NM_001451.3(FOXF1):c.965del (p.Pro322fs) rs1969566429
NM_001458.4(FLNC):c.3791-1delG rs1808546796
NM_001458.4(FLNC):c.[2971C>T];[318C>G]
NM_001458.5(FLNC):c.1027A>T (p.Lys343Ter) rs745495679
NM_001458.5(FLNC):c.102G>A (p.Trp34Ter) rs2128932126
NM_001458.5(FLNC):c.1055_1056del (p.Val352fs)
NM_001458.5(FLNC):c.1069C>T (p.Gln357Ter) rs2128934390
NM_001458.5(FLNC):c.1092dup (p.Glu365Ter)
NM_001458.5(FLNC):c.1111dup (p.Ala371fs) rs2128934407
NM_001458.5(FLNC):c.1136C>G (p.Ser379Ter)
NM_001458.5(FLNC):c.1156G>T (p.Glu386Ter)
NM_001458.5(FLNC):c.1166dup (p.Asn390fs)
NM_001458.5(FLNC):c.1205del (p.Thr402fs) rs2128934432
NM_001458.5(FLNC):c.1206_1207dup (p.Ala403fs)
NM_001458.5(FLNC):c.123del (p.Phe42fs)
NM_001458.5(FLNC):c.1260del (p.Arg421fs) rs2128934500
NM_001458.5(FLNC):c.1315_1328del (p.Thr439fs)
NM_001458.5(FLNC):c.1343_1350del (p.His448fs)
NM_001458.5(FLNC):c.1374del (p.Ile459fs)
NM_001458.5(FLNC):c.1444C>T (p.Arg482Ter) rs1420159591
NM_001458.5(FLNC):c.1453C>T (p.Gln485Ter)
NM_001458.5(FLNC):c.1463del (p.Gly488fs) rs2128934867
NM_001458.5(FLNC):c.146_147insT (p.Leu50fs) rs2128932142
NM_001458.5(FLNC):c.147delinsTCT (p.Lys51fs) rs1562988883
NM_001458.5(FLNC):c.1503_1504dup (p.Lys502fs) rs2128934883
NM_001458.5(FLNC):c.1503del (p.Lys502fs)
NM_001458.5(FLNC):c.1519_1525del (p.Gly507fs) rs1554398092
NM_001458.5(FLNC):c.156dup (p.Val53fs) rs2128932148
NM_001458.5(FLNC):c.1589_1602del (p.Asp530fs)
NM_001458.5(FLNC):c.1593_1600del (p.Phe533fs)
NM_001458.5(FLNC):c.1605C>A (p.Cys535Ter) rs199976790
NM_001458.5(FLNC):c.1662C>A (p.Tyr554Ter) rs376975967
NM_001458.5(FLNC):c.1670del (p.Pro557fs) rs2128935054
NM_001458.5(FLNC):c.1730G>A (p.Trp577Ter) rs2128935124
NM_001458.5(FLNC):c.175dup (p.Asp59fs)
NM_001458.5(FLNC):c.1806_1809dup (p.Leu604fs)
NM_001458.5(FLNC):c.181C>T (p.Gln61Ter) rs2128932161
NM_001458.5(FLNC):c.1830dup (p.Pro611fs)
NM_001458.5(FLNC):c.1844dup (p.Ile616fs) rs1808318504
NM_001458.5(FLNC):c.1849G>T (p.Glu617Ter)
NM_001458.5(FLNC):c.1861_1885dup (p.Arg629fs) rs1585156327
NM_001458.5(FLNC):c.1866_1867del (p.Asp623fs)
NM_001458.5(FLNC):c.1880_1887del (p.Asp627fs)
NM_001458.5(FLNC):c.1890C>G (p.Tyr630Ter) rs2128935258
NM_001458.5(FLNC):c.1893G>A (p.Trp631Ter) rs1808320936
NM_001458.5(FLNC):c.1914C>G (p.Tyr638Ter) rs757352623
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.5(FLNC):c.1965_1966del (p.Ala656fs) rs1585156450
NM_001458.5(FLNC):c.1991_1994del (p.Asp664fs) rs2128935287
NM_001458.5(FLNC):c.2048_2049del (p.Ile683fs) rs2128935347
NM_001458.5(FLNC):c.2065G>T (p.Glu689Ter) rs1446694237
NM_001458.5(FLNC):c.2084del (p.Arg695fs) rs1808334682
NM_001458.5(FLNC):c.2114_2115del (p.Tyr705fs)
NM_001458.5(FLNC):c.2119C>T (p.Gln707Ter) rs1808336992
NM_001458.5(FLNC):c.2145_2146dup (p.Ile716fs)
NM_001458.5(FLNC):c.2160del (p.Asn721fs)
NM_001458.5(FLNC):c.2190_2192del (p.Tyr730_Val731delinsTer)
NM_001458.5(FLNC):c.2234del (p.Gly745fs) rs1374893890
NM_001458.5(FLNC):c.2299del (p.Arg766_Val767insTer) rs2128935670
NM_001458.5(FLNC):c.234_235delinsTT (p.Gln79Ter)
NM_001458.5(FLNC):c.2385del (p.Gln796fs)
NM_001458.5(FLNC):c.2389+1G>T
NM_001458.5(FLNC):c.2389+2T>C rs112903432
NM_001458.5(FLNC):c.2390-10_2406del rs1554398674
NM_001458.5(FLNC):c.2405del (p.Gly802fs)
NM_001458.5(FLNC):c.2432del (p.Gly811fs) rs776269505
NM_001458.5(FLNC):c.2499C>A (p.Tyr833Ter) rs1389742580
NM_001458.5(FLNC):c.2507del (p.Pro836fs) rs1808400111
NM_001458.5(FLNC):c.2508del (p.Ala838fs) rs1808400430
NM_001458.5(FLNC):c.2548C>T (p.Gln850Ter) rs1367760687
NM_001458.5(FLNC):c.2603_2604delinsT (p.Ser868fs) rs1808416556
NM_001458.5(FLNC):c.2604del (p.Ser868fs) rs2128935921
NM_001458.5(FLNC):c.2617G>T (p.Glu873Ter) rs771092335
NM_001458.5(FLNC):c.261del (p.Pro88fs) rs2128932217
NM_001458.5(FLNC):c.273del (p.Phe92fs)
NM_001458.5(FLNC):c.2743_2753del (p.Val914_Val915insTer) rs2128936006
NM_001458.5(FLNC):c.2754_2755insC (p.Glu919fs) rs2128936013
NM_001458.5(FLNC):c.2787del (p.Val930fs)
NM_001458.5(FLNC):c.2804_2807dup (p.Gln936fs)
NM_001458.5(FLNC):c.2816_2823dup (p.Val942fs) rs2128936072
NM_001458.5(FLNC):c.2838T>A (p.Tyr946Ter) rs769390195
NM_001458.5(FLNC):c.2846del (p.Asp949fs) rs2128936089
NM_001458.5(FLNC):c.2864_2865del (p.Pro955fs)
NM_001458.5(FLNC):c.2872del (p.Val957_Val958insTer) rs1401551498
NM_001458.5(FLNC):c.2905del (p.Ile969fs) rs2128936107
NM_001458.5(FLNC):c.2914C>T (p.Gln972Ter)
NM_001458.5(FLNC):c.2918del (p.Gly973fs)
NM_001458.5(FLNC):c.2930-1G>A
NM_001458.5(FLNC):c.2931_2938dup (p.Val980fs)
NM_001458.5(FLNC):c.2950C>T (p.Gln984Ter) rs769865678
NM_001458.5(FLNC):c.2971C>T (p.Arg991Ter) rs886037830
NM_001458.5(FLNC):c.2977del (p.Ala993fs)
NM_001458.5(FLNC):c.300_301dup (p.Ser101fs)
NM_001458.5(FLNC):c.3019del (p.Ser1007fs) rs2128936173
NM_001458.5(FLNC):c.3070C>T (p.Gln1024Ter) rs2128936189
NM_001458.5(FLNC):c.3084C>A (p.Tyr1028Ter) rs761978559
NM_001458.5(FLNC):c.3084del (p.Arg1027_Tyr1028insTer)
NM_001458.5(FLNC):c.3092del (p.Pro1031fs)
NM_001458.5(FLNC):c.3108C>A (p.Tyr1036Ter)
NM_001458.5(FLNC):c.3161_3174del (p.Val1054fs)
NM_001458.5(FLNC):c.3179del (p.Pro1060fs)
NM_001458.5(FLNC):c.3180del (p.Asp1061fs) rs1064795229
NM_001458.5(FLNC):c.3221dup (p.Gly1075fs) rs2128936346
NM_001458.5(FLNC):c.3307_3313del (p.Cys1103fs) rs2128936386
NM_001458.5(FLNC):c.338del (p.Lys113fs)
NM_001458.5(FLNC):c.3415del (p.His1139fs) rs1808489575
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001458.5(FLNC):c.3670_3671dup (p.Ile1226fs) rs1808505973
NM_001458.5(FLNC):c.3679dup (p.Thr1227fs)
NM_001458.5(FLNC):c.368T>C (p.Val123Ala) rs1562991002
NM_001458.5(FLNC):c.3695_3698del (p.Gly1232fs) rs2128936511
NM_001458.5(FLNC):c.3699del (p.Val1235fs) rs1808508148
NM_001458.5(FLNC):c.3702del (p.Val1235fs) rs2128936516
NM_001458.5(FLNC):c.3711del (p.Lys1237fs) rs2128936518
NM_001458.5(FLNC):c.3733_3737dup (p.Ala1247fs)
NM_001458.5(FLNC):c.3854del (p.Gly1285fs) rs1808550611
NM_001458.5(FLNC):c.3859_3866del (p.His1287fs)
NM_001458.5(FLNC):c.3863_3867dup (p.Ala1290Ter)
NM_001458.5(FLNC):c.3908dup (p.Tyr1303Ter)
NM_001458.5(FLNC):c.3909T>A (p.Tyr1303Ter)
NM_001458.5(FLNC):c.3933_3937del (p.Tyr1312fs) rs1808555459
NM_001458.5(FLNC):c.3934_3937dup (p.Arg1313fs) rs1554399513
NM_001458.5(FLNC):c.3937C>T (p.Arg1313Ter) rs766330686
NM_001458.5(FLNC):c.3943C>T (p.Gln1315Ter)
NM_001458.5(FLNC):c.3944del (p.Gln1315fs)
NM_001458.5(FLNC):c.3949_3950del (p.Thr1317fs)
NM_001458.5(FLNC):c.4000_4015del (p.Ala1334fs)
NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) rs1562998062
NM_001458.5(FLNC):c.404G>A (p.Trp135Ter)
NM_001458.5(FLNC):c.4054del (p.Arg1352fs)
NM_001458.5(FLNC):c.4059_4060del (p.Arg1354fs)
NM_001458.5(FLNC):c.4060C>T (p.Arg1354Ter) rs138193236
NM_001458.5(FLNC):c.4071del (p.Pro1358fs)
NM_001458.5(FLNC):c.4108C>T (p.Arg1370Ter) rs1342121466
NM_001458.5(FLNC):c.4127+1G>T rs1346981294
NM_001458.5(FLNC):c.4127+1del
NM_001458.5(FLNC):c.4192A>T (p.Lys1398Ter)
NM_001458.5(FLNC):c.420del (p.Tyr141fs)
NM_001458.5(FLNC):c.4275del (p.Arg1426fs)
NM_001458.5(FLNC):c.4275dup (p.Arg1426fs) rs756985550
NM_001458.5(FLNC):c.4321del (p.Val1441fs)
NM_001458.5(FLNC):c.4333_4336del (p.Gly1444_Lys1445insTer) rs1562998858
NM_001458.5(FLNC):c.4363_4375dup (p.Ala1459fs)
NM_001458.5(FLNC):c.4432C>T (p.Gln1478Ter) rs2128937285
NM_001458.5(FLNC):c.444G>A (p.Trp148Ter) rs1554397197
NM_001458.5(FLNC):c.4458del (p.Val1487fs)
NM_001458.5(FLNC):c.4510del (p.His1504fs)
NM_001458.5(FLNC):c.4557T>A (p.Tyr1519Ter) rs2128937364
NM_001458.5(FLNC):c.4564C>T (p.Gln1522Ter)
NM_001458.5(FLNC):c.4564del (p.Gln1522fs) rs2128937368
NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr) rs1562999443
NM_001458.5(FLNC):c.4621A>T (p.Lys1541Ter) rs1562999451
NM_001458.5(FLNC):c.4682del (p.Glu1561fs) rs2128937556
NM_001458.5(FLNC):c.4716del (p.Leu1573fs) rs1554400021
NM_001458.5(FLNC):c.4718T>A (p.Leu1573Ter) rs2128937575
NM_001458.5(FLNC):c.4729C>T (p.Gln1577Ter) rs1585163755
NM_001458.5(FLNC):c.4755del (p.Lys1586fs) rs2128937622
NM_001458.5(FLNC):c.4794C>A (p.Tyr1598Ter) rs1808681247
NM_001458.5(FLNC):c.4845del (p.Lys1615fs)
NM_001458.5(FLNC):c.486dup (p.Gln163fs) rs2128933653
NM_001458.5(FLNC):c.4875del (p.Phe1626fs)
NM_001458.5(FLNC):c.4926_4927insACGTCACA (p.Val1643fs) rs1402879259
NM_001458.5(FLNC):c.4927+1del
NM_001458.5(FLNC):c.4946del (p.Gly1649fs) rs1282619643
NM_001458.5(FLNC):c.4959C>A (p.Cys1653Ter)
NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter) rs1563000044
NM_001458.5(FLNC):c.4984C>T (p.Gln1662Ter) rs1808708673
NM_001458.5(FLNC):c.5142C>A (p.Tyr1714Ter)
NM_001458.5(FLNC):c.5165del (p.Gly1722fs) rs1554400242
NM_001458.5(FLNC):c.5187del (p.Phe1730fs)
NM_001458.5(FLNC):c.531del (p.Ile178fs) rs2128933676
NM_001458.5(FLNC):c.5335G>T (p.Glu1779Ter) rs1808758208
NM_001458.5(FLNC):c.5360del (p.Leu1787fs)
NM_001458.5(FLNC):c.5389dup (p.Glu1797fs) rs2128938104
NM_001458.5(FLNC):c.5469_5482del (p.Val1824fs) rs1808778979
NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter) rs371167779
NM_001458.5(FLNC):c.5503C>T (p.Gln1835Ter)
NM_001458.5(FLNC):c.5520T>A (p.Tyr1840Ter) rs1808781579
NM_001458.5(FLNC):c.554G>A (p.Trp185Ter) rs1585151331
NM_001458.5(FLNC):c.5557del (p.Tyr1853fs) rs2128938355
NM_001458.5(FLNC):c.555G>A (p.Trp185Ter) rs2128933685
NM_001458.5(FLNC):c.5569_5578del (p.Ile1857fs) rs2128938360
NM_001458.5(FLNC):c.5613_5635del (p.Gly1872fs) rs2128938382
NM_001458.5(FLNC):c.563del (p.Gly188fs) rs2128933688
NM_001458.5(FLNC):c.5653A>T (p.Lys1885Ter) rs1563001456
NM_001458.5(FLNC):c.5665del (p.Glu1889fs) rs2128938391
NM_001458.5(FLNC):c.5669-1del rs1563001548
NM_001458.5(FLNC):c.5675_5678del (p.Leu1892fs) rs1585166614
NM_001458.5(FLNC):c.5676dup (p.Ser1893fs)
NM_001458.5(FLNC):c.5685del (p.Val1896fs) rs1808809268
NM_001458.5(FLNC):c.5697dup (p.Ser1900fs) rs1554400700
NM_001458.5(FLNC):c.5704del (p.Ala1902fs) rs1554400703
NM_001458.5(FLNC):c.5733dup (p.Gly1912fs) rs2128938455
NM_001458.5(FLNC):c.5754T>A (p.Tyr1918Ter) rs764539989
NM_001458.5(FLNC):c.5763del (p.Ala1922fs)
NM_001458.5(FLNC):c.5778C>G (p.Tyr1926Ter)
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr) rs387906587
NM_001458.5(FLNC):c.5789_5790del (p.Val1930fs)
NM_001458.5(FLNC):c.581_600del (p.Leu194fs)
NM_001458.5(FLNC):c.5845_5848dup (p.Asp1950delinsGlyTer)
NM_001458.5(FLNC):c.5866C>T (p.Gln1956Ter) rs2128938768
NM_001458.5(FLNC):c.5889_5896dup (p.Ser1966fs)
NM_001458.5(FLNC):c.5904dup (p.Ile1969fs) rs1585167678
NM_001458.5(FLNC):c.5920_5921del (p.Leu1974fs)
NM_001458.5(FLNC):c.592_593del (p.Cys198fs) rs2128933700
NM_001458.5(FLNC):c.5983del (p.Arg1995fs) rs1808872966
NM_001458.5(FLNC):c.6009del (p.Ser2004fs)
NM_001458.5(FLNC):c.6031G>A (p.Gly2011Arg) rs1554400962
NM_001458.5(FLNC):c.6054dup (p.Lys2019fs)
NM_001458.5(FLNC):c.6071del (p.Val2024fs) rs2128938894
NM_001458.5(FLNC):c.609C>A (p.Cys203Ter) rs1455396332
NM_001458.5(FLNC):c.6160G>T (p.Gly2054Ter)
NM_001458.5(FLNC):c.6190dup (p.Val2064fs) rs1808888920
NM_001458.5(FLNC):c.6240_6259del (p.Pro2081fs) rs2128939085
NM_001458.5(FLNC):c.6242dup (p.Ser2082fs) rs1585168573
NM_001458.5(FLNC):c.627G>A (p.Trp209Ter)
NM_001458.5(FLNC):c.6339del (p.Lys2113fs)
NM_001458.5(FLNC):c.6345_6352del (p.Asp2116fs) rs1808918080
NM_001458.5(FLNC):c.6447del (p.Ile2150fs) rs1563003153
NM_001458.5(FLNC):c.6478A>T (p.Ile2160Phe) rs879255640
NM_001458.5(FLNC):c.6491G>A (p.Trp2164Ter) rs2128939246
NM_001458.5(FLNC):c.6496C>T (p.Gln2166Ter)
NM_001458.5(FLNC):c.6561_6564del (p.Thr2188fs)
NM_001458.5(FLNC):c.6565G>T (p.Glu2189Ter)
NM_001458.5(FLNC):c.658del (p.Glu220fs) rs2128934070
NM_001458.5(FLNC):c.6634C>T (p.Gln2212Ter) rs2128939316
NM_001458.5(FLNC):c.664A>G (p.Met222Val) rs2128934074
NM_001458.5(FLNC):c.6663_6664del (p.Phe2222fs) rs2128939337
NM_001458.5(FLNC):c.670C>T (p.Gln224Ter)
NM_001458.5(FLNC):c.671del (p.Gln224fs) rs2128934076
NM_001458.5(FLNC):c.6721C>T (p.Gln2241Ter) rs2128939369
NM_001458.5(FLNC):c.6727+21_7065del
NM_001458.5(FLNC):c.6749_6758del (p.Met2250fs)
NM_001458.5(FLNC):c.6753_6754dup (p.Ala2252fs)
NM_001458.5(FLNC):c.6753dup (p.Ala2252fs) rs1808965674
NM_001458.5(FLNC):c.6770dup (p.Ser2258fs)
NM_001458.5(FLNC):c.6802G>T (p.Glu2268Ter) rs1156444972
NM_001458.5(FLNC):c.6812del (p.Asp2271fs)
NM_001458.5(FLNC):c.6835_6838del (p.Val2279fs)
NM_001458.5(FLNC):c.6841dup (p.Gln2281fs) rs2128939496
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs) rs2128939508
NM_001458.5(FLNC):c.6883C>T (p.Gln2295Ter) rs1585169831
NM_001458.5(FLNC):c.6890dup (p.Pro2298fs)
NM_001458.5(FLNC):c.6893C>T (p.Pro2298Leu) rs1382734231
NM_001458.5(FLNC):c.6907C>T (p.Gln2303Ter)
NM_001458.5(FLNC):c.6943C>A (p.His2315Asn) rs1563003848
NM_001458.5(FLNC):c.6955del (p.Ala2319fs) rs2128939548
NM_001458.5(FLNC):c.6957del (p.Gly2320fs)
NM_001458.5(FLNC):c.6976C>T (p.Arg2326Ter) rs748416758
NM_001458.5(FLNC):c.697C>T (p.Gln233Ter) rs1554397464
NM_001458.5(FLNC):c.6982G>A (p.Val2328Met) rs2128939561
NM_001458.5(FLNC):c.6998_6999insATCT (p.Glu2334fs)
NM_001458.5(FLNC):c.7000G>T (p.Glu2334Ter)
NM_001458.5(FLNC):c.7014G>A (p.Trp2338Ter) rs2128939606
NM_001458.5(FLNC):c.7235_7236del (p.Thr2412fs)
NM_001458.5(FLNC):c.7251+1G>A rs1554401581
NM_001458.5(FLNC):c.7251+1G>T rs1554401581
NM_001458.5(FLNC):c.7261del (p.Leu2421fs) rs2128940107
NM_001458.5(FLNC):c.7273_7274insTTCAC (p.Gln2425fs)
NM_001458.5(FLNC):c.7294C>T (p.Gln2432Ter) rs1554401756
NM_001458.5(FLNC):c.7309dup (p.Arg2437fs) rs2128940130
NM_001458.5(FLNC):c.7316_7317del (p.Val2439fs)
NM_001458.5(FLNC):c.7338_7339del (p.Pro2447fs) rs1585171628
NM_001458.5(FLNC):c.7341del (p.Ser2448fs)
NM_001458.5(FLNC):c.7365C>A (p.Tyr2455Ter) rs540386120
NM_001458.5(FLNC):c.7371del (p.Glu2458fs) rs1554401780
NM_001458.5(FLNC):c.7414G>T (p.Glu2472Ter) rs948675422
NM_001458.5(FLNC):c.7495C>T (p.Gln2499Ter)
NM_001458.5(FLNC):c.7496_7497insTGCT (p.Gln2499fs) rs1554401830
NM_001458.5(FLNC):c.7510del (p.Asp2504fs) rs2128940259
NM_001458.5(FLNC):c.7526_7527delinsAG (p.Ser2509Ter) rs1809085817
NM_001458.5(FLNC):c.7536_7548del (p.Pro2513fs) rs1554401837
NM_001458.5(FLNC):c.7551_7552del (p.Gly2518fs)
NM_001458.5(FLNC):c.7562-15_7637delinsGAGG rs1563005360
NM_001458.5(FLNC):c.7562-1_7612dup
NM_001458.5(FLNC):c.7571del (p.Ser2523_Ser2524insTer) rs1809097778
NM_001458.5(FLNC):c.7660del (p.Glu2554fs) rs1809103569
NM_001458.5(FLNC):c.7688A>G (p.Tyr2563Cys) rs1563005534
NM_001458.5(FLNC):c.774del (p.Lys259fs) rs1554397506
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs) rs2128940399
NM_001458.5(FLNC):c.7757_7758delinsA (p.Ser2586fs) rs1809109008
NM_001458.5(FLNC):c.778del (p.Ala260fs)
NM_001458.5(FLNC):c.7841_7842del (p.Val2614fs) rs1554402003
NM_001458.5(FLNC):c.7929del (p.Leu2645fs) rs1554402015
NM_001458.5(FLNC):c.794del (p.Gly265fs) rs2128934191
NM_001458.5(FLNC):c.7980C>A (p.Cys2660Ter) rs2128940614
NM_001458.5(FLNC):c.801del (p.Val268fs) rs2128934193
NM_001458.5(FLNC):c.8028del (p.Thr2677fs)
NM_001458.5(FLNC):c.804del (p.Arg269fs)
NM_001458.5(FLNC):c.8051del (p.Val2684fs) rs1809161384
NM_001458.5(FLNC):c.805C>T (p.Arg269Ter) rs755583250
NM_001458.5(FLNC):c.8076C>A (p.Tyr2692Ter) rs1563006133
NM_001458.5(FLNC):c.8103_8104del (p.Asp2703fs)
NM_001458.5(FLNC):c.8107del (p.Asp2703fs) rs1563006160
NM_001458.5(FLNC):c.8110_8111insC (p.Tyr2704fs)
NM_001458.5(FLNC):c.8129G>A (p.Trp2710Ter) rs1585173340
NM_001458.5(FLNC):c.8130G>A (p.Trp2710Ter) rs121909518
NM_001458.5(FLNC):c.901C>T (p.Gln301Ter)
NM_001458.5(FLNC):c.964G>T (p.Glu322Ter) rs1417082178
NM_001458.5(FLNC):c.985_986dup (p.Asn329fs)
NM_001492.6(GDF1):c.1090_1092del (p.Met364del) rs753643819
NM_001492.6(GDF1):c.523_586dup (p.Ala196fs) rs1601143502
NM_001492.6(GDF1):c.909dup (p.Val304fs) rs606231383
NM_001553.3(IGFBP7):c.830-1G>A rs866994863
NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) rs112901682
NM_001613.4(ACTA2):c.116G>A (p.Arg39His) rs794728021
NM_001613.4(ACTA2):c.138G>A (p.Met46Ile) rs878854466
NM_001613.4(ACTA2):c.138G>T (p.Met46Ile) rs878854466
NM_001613.4(ACTA2):c.145A>G (p.Met49Val) rs397515325
NM_001613.4(ACTA2):c.218T>C (p.Ile73Thr)
NM_001613.4(ACTA2):c.350A>G (p.Asn117Ser) rs2133261250
NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) rs112602953
NM_001613.4(ACTA2):c.369+1G>C
NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu) rs794728025
NM_001613.4(ACTA2):c.535C>A (p.Arg179Ser) rs886039303
NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys) rs886039303
NM_001613.4(ACTA2):c.536G>A (p.Arg179His) rs387906592
NM_001613.4(ACTA2):c.536G>T (p.Arg179Leu) rs387906592
NM_001613.4(ACTA2):c.593G>A (p.Arg198His) rs746972765
NM_001613.4(ACTA2):c.611C>T (p.Thr204Ile) rs1057522870
NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) rs397516685
NM_001613.4(ACTA2):c.648G>C (p.Glu216Asp)
NM_001613.4(ACTA2):c.655T>C (p.Cys219Arg)
NM_001613.4(ACTA2):c.773G>A (p.Arg258His) rs121434527
NM_001613.4(ACTA2):c.808G>A (p.Gly270Arg) rs794728028
NM_001613.4(ACTA2):c.809G>A (p.Gly270Glu) rs794728029
NM_001613.4(ACTA2):c.940C>T (p.Arg314Ter) rs886038978
NM_001659.3(ARF3):c.379A>G (p.Lys127Glu)
NM_001711.6(BGN):c.238G>A (p.Gly80Ser) rs886037825
NM_001711.6(BGN):c.5G>A (p.Trp2Ter) rs886037823
NM_001711.6(BGN):c.908A>C (p.Gln303Pro) rs886037824
NM_001719.3(BMP7):c.254A>T (p.Asp85Val) rs2146036001
NM_001730.5(KLF5):c.1100T>A (p.Leu367Ter) rs2044646731
NM_001743.6(CALM2):c.286G>T (p.Asp96Tyr) rs1573214371
NM_001743.6(CALM2):c.287A>T (p.Asp96Val) rs730882254
NM_001743.6(CALM2):c.293A>G (p.Asn98Ser) rs398124647
NM_001743.6(CALM2):c.293A>T (p.Asn98Ile) rs398124647
NM_001743.6(CALM2):c.388G>A (p.Asp130Asn) rs2103823638
NM_001743.6(CALM2):c.389A>G (p.Asp130Gly) rs1573214163
NM_001743.6(CALM2):c.394G>T (p.Asp132Tyr) rs2103823612
NM_001743.6(CALM2):c.395A>G (p.Asp132Gly) rs1687164164
NM_001743.6(CALM2):c.396T>G (p.Asp132Glu) rs398124648
NM_001743.6(CALM2):c.400G>C (p.Asp134His) rs398124650
NM_001743.6(CALM2):c.407A>C (p.Gln136Pro) rs398124649
NM_001743.6(CALM2):c.414C>G (p.Asn138Lys) rs1553431702
NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs) rs587780295
NM_001753.5(CAV1):c.473del (p.Pro158fs) rs879255566
NM_001753.5(CAV1):c.474del (p.Leu159fs) rs587777017
NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer) rs797044871
NM_001792.5(CDH2):c.1219G>A (p.Asp407Asn) rs568089577
NM_001792.5(CDH2):c.686A>C (p.Gln229Pro) rs965753331
NM_001844.5(COL2A1):c.1597C>T (p.Arg533Ter) rs1085307608
NM_001845.6(COL4A1):c.*31G>T rs2138415342
NM_001845.6(COL4A1):c.*32G>A rs1876439052
NM_001845.6(COL4A1):c.*32G>T rs1876439052
NM_001845.6(COL4A1):c.*35C>A rs1876438936
NM_001845.6(COL4A1):c.1353dup (p.Gly452fs) rs1594568948
NM_001845.6(COL4A1):c.1492G>C (p.Gly498Arg) rs267606744
NM_001845.6(COL4A1):c.1493G>T (p.Gly498Val) rs113994104
NM_001845.6(COL4A1):c.1528G>A (p.Gly510Arg) rs267606743
NM_001845.6(COL4A1):c.1555G>A (p.Gly519Arg) rs113994105
NM_001845.6(COL4A1):c.155G>A (p.Gly52Asp)
NM_001845.6(COL4A1):c.1573_1574delinsTT (p.Gly525Leu) rs281865426
NM_001845.6(COL4A1):c.1583G>A (p.Gly528Glu) rs113994106
NM_001845.6(COL4A1):c.1685G>A (p.Gly562Glu) rs121912857
NM_001845.6(COL4A1):c.1937del (p.Gly646fs) rs1878257364
NM_001845.6(COL4A1):c.1947_1959del (p.Ala650fs)
NM_001845.6(COL4A1):c.1A>T (p.Met1Leu) rs113994103
NM_001845.6(COL4A1):c.2085del (p.Gly696fs) rs606231464
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001845.6(COL4A1):c.2122G>A (p.Gly708Arg) rs672601349
NM_001845.6(COL4A1):c.2153_2154dup (p.Asn719fs)
NM_001845.6(COL4A1):c.2159G>A (p.Gly720Asp) rs113994108
NM_001845.6(COL4A1):c.2194-1G>A rs606231465
NM_001845.6(COL4A1):c.2228G>T (p.Gly743Val) rs1057523354
NM_001845.6(COL4A1):c.2245G>A (p.Gly749Ser) rs113994109
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg) rs672601346
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2317G>C (p.Gly773Arg) rs672601347
NM_001845.6(COL4A1):c.2458+1G>A rs1878012979
NM_001845.6(COL4A1):c.2458+1G>C rs1878012979
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg) rs797044867
NM_001845.6(COL4A1):c.2608G>A (p.Gly870Arg) rs1877962670
NM_001845.6(COL4A1):c.2870G>C (p.Gly957Ala)
NM_001845.6(COL4A1):c.2959G>A (p.Gly987Arg) rs1566351456
NM_001845.6(COL4A1):c.3104G>T (p.Gly1035Val) rs1555302922
NM_001845.6(COL4A1):c.3112G>A (p.Gly1038Ser) rs1877832657
NM_001845.6(COL4A1):c.3139G>C (p.Gly1047Arg)
NM_001845.6(COL4A1):c.3353G>A (p.Gly1118Asp) rs1566349690
NM_001845.6(COL4A1):c.3389G>A (p.Gly1130Asp) rs113994111
NM_001845.6(COL4A1):c.3407-2del rs2139159594
NM_001845.6(COL4A1):c.3556+54_3877-1090del
NM_001845.6(COL4A1):c.3706G>A (p.Gly1236Arg) rs113994112
NM_001845.6(COL4A1):c.3715G>A (p.Gly1239Arg) rs1085307709
NM_001845.6(COL4A1):c.3742+1G>A rs2139156007
NM_001845.6(COL4A1):c.3761G>A (p.Gly1254Glu) rs2139154554
NM_001845.6(COL4A1):c.388-1G>C rs766209938
NM_001845.6(COL4A1):c.3976G>A (p.Gly1326Arg) rs587777379
NM_001845.6(COL4A1):c.4020dup (p.Gly1341fs)
NM_001845.6(COL4A1):c.4250-1G>A rs2139146298
NM_001845.6(COL4A1):c.4267G>C (p.Gly1423Arg) rs113994113
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter) rs1594535661
NM_001845.6(COL4A1):c.4738G>C (p.Gly1580Arg) rs113994114
NM_001845.6(COL4A1):c.4843G>A (p.Glu1615Lys) rs1876543576
NM_001845.6(COL4A1):c.4881C>G (p.Asn1627Lys) rs672601348
NM_001845.6(COL4A1):c.4887C>G (p.Tyr1629Ter) rs542803991
NM_001845.6(COL4A1):c.625G>A (p.Gly209Ser)
NM_001845.6(COL4A1):c.634G>A (p.Gly212Ser) rs878853070
NM_001845.6(COL4A1):c.665T>G (p.Leu222Ter)
NM_001845.6(COL4A1):c.921dup (p.Gly308fs) rs1594579579
NM_001846.4(COL4A2):c.1011+1G>A rs1220432347
NM_001846.4(COL4A2):c.3110G>A (p.Gly1037Glu) rs387906603
NM_001846.4(COL4A2):c.316-1G>C rs1566525717
NM_001846.4(COL4A2):c.3455G>A (p.Gly1152Asp) rs387906602
NM_001846.4(COL4A2):c.4129G>A (p.Gly1377Arg) rs1594113653
NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter) rs1553631860
NM_001904.4(CTNNB1):c.1434_1435insC (p.Glu479fs) rs1057519379
NM_001904.4(CTNNB1):c.1543C>T (p.Arg515Ter) rs397514554
NM_001904.4(CTNNB1):c.1603C>T (p.Arg535Ter) rs886039332
NM_001904.4(CTNNB1):c.1829_1832del (p.Ile610fs) rs2078435023
NM_001904.4(CTNNB1):c.2142_2157dup (p.His720Ter) rs1057519380
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter) rs775104326
NM_001927.4(DES):c.1009G>C (p.Ala337Pro) rs59962885
NM_001927.4(DES):c.1013T>G (p.Leu338Arg) rs57496341
NM_001927.4(DES):c.1013_1014delinsGC (p.Leu338Arg)
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.1043A>C (p.Gln348Pro) rs1411703397
NM_001927.4(DES):c.1049G>C (p.Arg350Pro) rs57965306
NM_001927.4(DES):c.1056GGA[3] (p.Glu353_Asp354insGlu)
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.1090C>T (p.Gln364Ter) rs1224165687
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del) rs1575014889
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del) rs58687088
NM_001927.4(DES):c.1109T>C (p.Leu370Pro) rs59308628
NM_001927.4(DES):c.112del (p.Ala38fs) rs2125165857
NM_001927.4(DES):c.1132_1153del (p.Lys378fs) rs1575014943
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.1171del (p.Leu391fs)
NM_001927.4(DES):c.1178A>T (p.Asn393Ile) rs121913001
NM_001927.4(DES):c.119dup (p.Gly41fs)
NM_001927.4(DES):c.1203G>C (p.Glu401Asp) rs2125168897
NM_001927.4(DES):c.1213del (p.Tyr405fs) rs886043080
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.1255_1271del (p.Pro419fs) rs1553603732
NM_001927.4(DES):c.1256C>T (p.Pro419Leu) rs796667045
NM_001927.4(DES):c.1289-2A>G rs398122940
NM_001927.4(DES):c.1325C>T (p.Thr442Ile) rs121913005
NM_001927.4(DES):c.1333_1336del (p.Lys444_Thr445insTer) rs1114167327
NM_001927.4(DES):c.1346A>C (p.Lys449Thr) rs267607485
NM_001927.4(DES):c.1353C>G (p.Ile451Met) rs121913002
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001927.4(DES):c.163C>T (p.Gln55Ter)
NM_001927.4(DES):c.194dup (p.Leu66fs) rs1370206753
NM_001927.4(DES):c.249C>A (p.Tyr83Ter)
NM_001927.4(DES):c.300dup (p.Phe101fs)
NM_001927.4(DES):c.309del (p.Thr104fs) rs2125166200
NM_001927.4(DES):c.336_344del (p.Gln113_Leu115del) rs1553603239
NM_001927.4(DES):c.343C>A (p.Leu115Ile)
NM_001927.4(DES):c.346_350delinsTAGT (p.Asn116_Asp117delinsTer)
NM_001927.4(DES):c.347A>G (p.Asn116Ser) rs267607499
NM_001927.4(DES):c.35C>T (p.Ser12Phe) rs267607495
NM_001927.4(DES):c.373A>T (p.Lys125Ter) rs886043000
NM_001927.4(DES):c.38C>T (p.Ser13Phe) rs62636495
NM_001927.4(DES):c.394C>T (p.Gln132Ter) rs1060503165
NM_001927.4(DES):c.452_459del (p.Val151fs) rs2125166454
NM_001927.4(DES):c.493_520delinsGCGT (p.Gln165_Ala174delinsAlaSer) rs1114167332
NM_001927.4(DES):c.514C>T (p.Gln172Ter) rs1559352440
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del) rs60538473
NM_001927.4(DES):c.525_526del (p.Val176fs) rs769096434
NM_001927.4(DES):c.525_526dup (p.Val176fs)
NM_001927.4(DES):c.549_564del (p.Leu184fs)
NM_001927.4(DES):c.599T>A (p.Leu200Ter) rs2125167364
NM_001927.4(DES):c.5G>T (p.Ser2Ile) rs58999456
NM_001927.4(DES):c.639+4_639+5del rs730880289
NM_001927.4(DES):c.640-1G>A rs267607484
NM_001927.4(DES):c.700G>T (p.Glu234Ter) rs774739275
NM_001927.4(DES):c.720_722del (p.Lys241del) rs2125167652
NM_001927.4(DES):c.735+1G>A rs397516698
NM_001927.4(DES):c.735+1G>T rs397516698
NM_001927.4(DES):c.735+3A>G rs267607483
NM_001927.4(DES):c.769C>T (p.Gln257Ter)
NM_001927.4(DES):c.7C>T (p.Gln3Ter) rs1954358233
NM_001927.4(DES):c.973C>T (p.Arg325Ter) rs959034410
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001943.4(DSG2):c.1015del rs794728094
NM_001943.5(DSG2):c.1027G>T (p.Glu343Ter) rs1555627108
NM_001943.5(DSG2):c.1053_1056dup (p.Ile353fs) rs2144332585
NM_001943.5(DSG2):c.11_12insGCGAGGGTGCGATGGCACGGAG (p.Ser4fs)
NM_001943.5(DSG2):c.1319_1320del (p.Val440fs) rs775256998
NM_001943.5(DSG2):c.136C>T (p.Arg46Trp) rs752522753
NM_001943.5(DSG2):c.1385del (p.Asn462fs)
NM_001943.5(DSG2):c.1433dup (p.Thr480fs)
NM_001943.5(DSG2):c.146G>A (p.Arg49His) rs121913006
NM_001943.5(DSG2):c.1487dup (p.Cys496fs) rs730880347
NM_001943.5(DSG2):c.1672C>T (p.Gln558Ter) rs1375012922
NM_001943.5(DSG2):c.1689del (p.Arg565fs)
NM_001943.5(DSG2):c.1705C>T (p.Gln569Ter) rs2144346522
NM_001943.5(DSG2):c.1759dup (p.Thr587fs)
NM_001943.5(DSG2):c.1773_1774del (p.Cys591_Glu592delinsTer) rs397516703
NM_001943.5(DSG2):c.1801del (p.Glu601fs)
NM_001943.5(DSG2):c.1826dup (p.Leu610fs) rs1039633976
NM_001943.5(DSG2):c.1880-2A>G rs397514038
NM_001943.5(DSG2):c.1919_1932del (p.Gly640fs) rs754133577
NM_001943.5(DSG2):c.2257del (p.Ala753fs) rs1567933176
NM_001943.5(DSG2):c.2321del (p.Asn774fs)
NM_001943.5(DSG2):c.2343_2344insAAGA (p.Ser782fs) rs1252006527
NM_001943.5(DSG2):c.2372_2373del (p.Thr791fs) rs794728098
NM_001943.5(DSG2):c.2397T>G (p.Tyr799Ter) rs200201181
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys) rs121913010
NM_001943.5(DSG2):c.2480_2712del (p.Asp827fs) rs2144359029
NM_001943.5(DSG2):c.2533del (p.Lys844_Ile845insTer) rs1375081885
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_001943.5(DSG2):c.2554G>T (p.Glu852Ter)
NM_001943.5(DSG2):c.2617C>T (p.Gln873Ter)
NM_001943.5(DSG2):c.2620del (p.Thr874fs) rs755243947
NM_001943.5(DSG2):c.2761_2764dup (p.Thr922fs) rs1567934720
NM_001943.5(DSG2):c.27C>A (p.Tyr9Ter) rs1452179158
NM_001943.5(DSG2):c.2817del (p.Tyr940fs) rs1567934773
NM_001943.5(DSG2):c.2875_2876del (p.Gln959fs) rs727502990
NM_001943.5(DSG2):c.290del (p.Pro97fs)
NM_001943.5(DSG2):c.2923del (p.Leu974_Val975insTer) rs794728084
NM_001943.5(DSG2):c.2955del (p.Val986fs) rs1064794709
NM_001943.5(DSG2):c.2990del (p.Gly997fs) rs1252426323
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs) rs1261674855
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.307_308del (p.Val103fs) rs1555671201
NM_001943.5(DSG2):c.3340C>T (p.Gln1114Ter) rs776078563
NM_001943.5(DSG2):c.361G>T (p.Glu121Ter)
NM_001943.5(DSG2):c.423del (p.Lys141fs) rs2073125384
NM_001943.5(DSG2):c.464_465insT (p.Glu156fs) rs794728091
NM_001943.5(DSG2):c.495dup (p.Gly166fs) rs781532110
NM_001943.5(DSG2):c.498del (p.Ser167fs)
NM_001943.5(DSG2):c.505G>T (p.Glu169Ter)
NM_001943.5(DSG2):c.512_516del (p.Leu171fs) rs1568105371
NM_001943.5(DSG2):c.523+1G>A rs553299589
NM_001943.5(DSG2):c.523+1G>C rs553299589
NM_001943.5(DSG2):c.527_533del (p.Thr176fs) rs2144317658
NM_001943.5(DSG2):c.613_658dup (p.Ile220delinsThrCysLeuSerSerSerValLeuProLysTer) rs2144317934
NM_001943.5(DSG2):c.621_626del (p.Tyr207_Pro209delinsTer) rs1555671331
NM_001943.5(DSG2):c.630del (p.Phe211fs)
NM_001943.5(DSG2):c.649dup (p.Thr217fs) rs1598811394
NM_001943.5(DSG2):c.676_680del (p.Thr226fs) rs2144318119
NM_001943.5(DSG2):c.745dup (p.Thr249fs) rs2073148989
NM_001943.5(DSG2):c.769C>T (p.Gln257Ter) rs794728083
NM_001943.5(DSG2):c.797A>G (p.Asn266Ser) rs121913011
NM_001943.5(DSG2):c.803_810dup (p.Val271fs) rs2073149649
NM_001943.5(DSG2):c.853C>T (p.Gln285Ter)
NM_001943.5(DSG2):c.871dup (p.Thr291fs) rs759944835
NM_001943.5(DSG2):c.882dup (p.Val295fs) rs1187924885
NM_001943.5(DSG2):c.909del (p.Asp304fs) rs2144322985
NM_001943.5(DSG2):c.912_941delinsAATTGGCTGGCAAATTTTACATTTGAAATGAAGGAGGTTATTTCCTTCATTTGAATTGGCTGGCAAATTTTACATTTGAAATGA (p.Asp304_Ser314delinsGluIleGlyTrpGlnIleLeuHisLeuLysTer)
NM_001943.5(DSG2):c.917G>A (p.Trp306Ter) rs2144323019
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter) rs121913007
NM_001943.5(DSG2):c.91del (p.Thr31fs) rs758282201
NM_001985.3(ETFB):c.124T>C (p.Cys42Arg)
NM_001985.3(ETFB):c.178G>T (p.Glu60Ter)
NM_001985.3(ETFB):c.253C>T (p.Arg85Ter) rs187424345
NM_001985.3(ETFB):c.284_293del (p.Glu95fs) rs2123587098
NM_001985.3(ETFB):c.362del (p.Leu121fs)
NM_001985.3(ETFB):c.386dup (p.Asp129fs)
NM_001985.3(ETFB):c.406C>T (p.Gln136Ter)
NM_001985.3(ETFB):c.426_427insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTCCTGACCTCTAGATCCACCCGCCTCGGCCTCCCCAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACAGCTGGATTTCTT (p.Asp143delinsPhePhePhePhePhePheXaaXaaXaaXaaSerProAspLeuTer) rs2123580195
NM_001985.3(ETFB):c.454C>T (p.Gln152Ter)
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln) rs104894677
NM_001985.3(ETFB):c.597+1G>C rs2123572141
NM_001985.3(ETFB):c.61C>T (p.Arg21Ter)
NM_001985.3(ETFB):c.61del (p.Arg21fs)
NM_001999.4(FBN2):c.3736T>C (p.Cys1246Arg) rs1554122857
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_002060.3(GJA4):c.121G>T (p.Gly41Cys) rs1640240555
NM_002067.5(GNA11):c.547C>T (p.Arg183Cys) rs1555702147
NM_002072.5(GNAQ):c.547C>G (p.Arg183Gly)
NM_002072.5(GNAQ):c.548G>A (p.Arg183Gln) rs397514698
NM_002072.5(GNAQ):c.626A>G (p.Gln209Arg) rs121913492
NM_002072.5(GNAQ):c.627A>C (p.Gln209His) rs2118444312
NM_002072.5(GNAQ):c.627A>T (p.Gln209His) rs2118444312
NM_002168.4(IDH2):c.516G>T (p.Arg172Ser)
NM_002230.4(JUP):c.1121G>A (p.Trp374Ter)
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup) rs113994176
NM_002230.4(JUP):c.1205_1206del (p.Val402fs)
NM_002230.4(JUP):c.1258_1261del (p.Cys420fs)
NM_002230.4(JUP):c.1455_1462del (p.Val486fs) rs1597801392
NM_002230.4(JUP):c.1615C>T (p.Gln539Ter) rs797046139
NM_002230.4(JUP):c.1639C>T (p.Gln547Ter) rs2143456924
NM_002230.4(JUP):c.1807del (p.Val603fs) rs1597782553
NM_002230.4(JUP):c.1870G>T (p.Glu624Ter) rs2143426682
NM_002230.4(JUP):c.1876dup (p.Ala626fs)
NM_002230.4(JUP):c.188del (p.Gln63fs) rs1555606936
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs) rs113994177
NM_002230.4(JUP):c.2039G>A (p.Trp680Ter) rs2143416425
NM_002230.4(JUP):c.222C>G (p.Tyr74Ter) rs2143697976
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.532_542del (p.Ala178fs) rs2143683612
NM_002230.4(JUP):c.545C>A (p.Ser182Ter) rs145592971
NM_002230.4(JUP):c.654del (p.Leu219fs) rs2143680611
NM_002230.4(JUP):c.687del (p.Ala230fs)
NM_002230.4(JUP):c.71C>A (p.Ser24Ter) rs782460555
NM_002230.4(JUP):c.781_796del (p.Lys261fs) rs2143651415
NM_002230.4(JUP):c.873C>A (p.Cys291Ter)
NM_002230.4(JUP):c.916del (p.Ile306fs)
NM_002234.4(KCNA5):c.1105_1112del (p.Phe369fs)
NM_002234.4(KCNA5):c.1123G>T (p.Glu375Ter) rs121908590
NM_002246.3(KCNK3):c.23C>A (p.Thr8Lys) rs1085307438
NM_002246.3(KCNK3):c.289G>A (p.Gly97Arg) rs398123040
NM_002246.3(KCNK3):c.575A>G (p.Tyr192Cys) rs398123043
NM_002246.3(KCNK3):c.607G>C (p.Gly203Arg)
NM_002246.3(KCNK3):c.608G>A (p.Gly203Asp) rs398123039
NM_002246.3(KCNK3):c.661G>C (p.Val221Leu) rs398123041
NM_002294.3(LAMP2):c.1020del (p.Gly341fs) rs727504597
NM_002294.3(LAMP2):c.107C>G (p.Ser36Ter) rs2147287657
NM_002294.3(LAMP2):c.139C>T (p.Gln47Ter) rs2147287624
NM_002294.3(LAMP2):c.183+1G>A rs727503120
NM_002294.3(LAMP2):c.584_588dup (p.Val197fs) rs730880492
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) rs727503118
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002317.7(LOX):c.1044T>A (p.Ser348Arg) rs1561417568
NM_002317.7(LOX):c.125G>A (p.Trp42Ter) rs886040966
NM_002317.7(LOX):c.351del (p.Arg118fs) rs1274931972
NM_002317.7(LOX):c.445G>T (p.Gly149Ter) rs766969559
NM_002317.7(LOX):c.53_66del (p.Leu18fs) rs2152591749
NM_002317.7(LOX):c.604G>T (p.Gly202Ter) rs1473260982
NM_002317.7(LOX):c.743C>T (p.Thr248Ile) rs1561420103
NM_002317.7(LOX):c.800A>C (p.Gln267Pro) rs886040967
NM_002317.7(LOX):c.839G>T (p.Ser280Ile) rs886040965
NM_002317.7(LOX):c.893T>G (p.Met298Arg) rs876657852
NM_002335.4(LRP5):c.1145C>T (p.Pro382Leu) rs397514664
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) rs121908661
NM_002335.4(LRP5):c.1412+1G>A rs2098643283
NM_002335.4(LRP5):c.1453G>T (p.Glu485Ter) rs121908666
NM_002335.4(LRP5):c.1468del (p.Asp490fs) rs1554967141
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.1512G>A (p.Trp504Ter) rs545508982
NM_002335.4(LRP5):c.1584+1G>A rs1554967176
NM_002335.4(LRP5):c.1655C>T (p.Thr552Met) rs397514663
NM_002335.4(LRP5):c.1708C>T (p.Arg570Trp) rs121908665
NM_002335.4(LRP5):c.2151dup (p.Asp718Ter) rs121908662
NM_002335.4(LRP5):c.2305del (p.Asp769fs) rs1554971145
NM_002335.4(LRP5):c.2557C>T (p.Gln853Ter) rs121908663
NM_002335.4(LRP5):c.29G>A (p.Trp10Ter) rs121908660
NM_002335.4(LRP5):c.3804del (p.Glu1270fs) rs80358319
NM_002335.4(LRP5):c.433C>T (p.Leu145Phe) rs80358305
NM_002335.4(LRP5):c.4488+2T>G rs80358322
NM_002335.4(LRP5):c.4600C>T (p.Arg1534Ter) rs149645175
NM_002336.3(LRP6):c.2218C>T (p.Gln740Ter) rs1591901585
NM_002401.5(MAP3K3):c.1323C>G (p.Ile441Met) rs2143631386
NM_002408.3(MGAT2):c.869C>T (p.Ser290Phe) rs104894446
NM_002408.4(MGAT2):c.1017T>A (p.Cys339Ter) rs104894449
NM_002408.4(MGAT2):c.711G>C (p.Lys237Asn) rs730882218
NM_002408.4(MGAT2):c.753dup (p.Ala252fs) rs1566504935
NM_002408.4(MGAT2):c.785A>G (p.His262Arg) rs104894447
NM_002408.4(MGAT2):c.799G>C (p.Asp267His) rs1566505013
NM_002408.4(MGAT2):c.952A>G (p.Asn318Asp) rs104894448
NM_002435.3(MPI):c.1001_1002dup (p.Leu335fs)
NM_002435.3(MPI):c.1006_1007del (p.Ser336fs)
NM_002435.3(MPI):c.1022del (p.Pro341fs)
NM_002435.3(MPI):c.1022dup (p.Val342fs) rs765310894
NM_002435.3(MPI):c.1034dup (p.Thr346fs) rs2141208718
NM_002435.3(MPI):c.1053+2T>C rs2141208760
NM_002435.3(MPI):c.1058del (p.Pro353fs)
NM_002435.3(MPI):c.1064_1065del (p.Ser355fs) rs2064839839
NM_002435.3(MPI):c.1087del (p.Ala363fs) rs2141209567
NM_002435.3(MPI):c.1120C>T (p.Gln374Ter)
NM_002435.3(MPI):c.1137_1140del (p.Ser380fs)
NM_002435.3(MPI):c.1166del (p.Pro389fs)
NM_002435.3(MPI):c.1205A>G (p.Glu402Gly) rs863225086
NM_002435.3(MPI):c.122del (p.Ala41fs)
NM_002435.3(MPI):c.150G>A (p.Trp50Ter) rs1406722622
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.206del (p.Lys69fs)
NM_002435.3(MPI):c.222G>A (p.Trp74Ter)
NM_002435.3(MPI):c.335_338del (p.His112fs) rs2141197839
NM_002435.3(MPI):c.339_342dup (p.Lys115Ter) rs1661886822
NM_002435.3(MPI):c.370dup (p.Gln124fs)
NM_002435.3(MPI):c.413T>C (p.Met138Thr) rs104894495
NM_002435.3(MPI):c.43C>T (p.Gln15Ter)
NM_002435.3(MPI):c.43_44insCTGGGGGA (p.Gln15fs)
NM_002435.3(MPI):c.44del (p.Gln15fs)
NM_002435.3(MPI):c.490del (p.Val164fs)
NM_002435.3(MPI):c.593dup (p.Ser199fs)
NM_002435.3(MPI):c.612_615del (p.Ser204fs)
NM_002435.3(MPI):c.613G>T (p.Glu205Ter)
NM_002435.3(MPI):c.631del (p.Glu211fs) rs1374119101
NM_002435.3(MPI):c.647_650del (p.Leu215_Leu216insTer) rs2141200617
NM_002435.3(MPI):c.657del (p.Ile220fs)
NM_002435.3(MPI):c.65del (p.Gly22fs)
NM_002435.3(MPI):c.679G>T (p.Gly227Ter)
NM_002435.3(MPI):c.706dup (p.Glu236fs)
NM_002435.3(MPI):c.713del (p.Leu238fs) rs745432667
NM_002435.3(MPI):c.727C>T (p.Gln243Ter) rs749911553
NM_002435.3(MPI):c.745dup (p.Ile249fs) rs2141206676
NM_002435.3(MPI):c.751del (p.Cys251fs)
NM_002435.3(MPI):c.753del (p.Phe252fs) rs2141206722
NM_002435.3(MPI):c.764_776del (p.Tyr255fs)
NM_002435.3(MPI):c.792dup (p.Gly265fs)
NM_002435.3(MPI):c.820dup (p.Val274fs) rs1567268668
NM_002435.3(MPI):c.830_831del (p.Ala277fs)
NM_002435.3(MPI):c.841G>T (p.Gly281Ter)
NM_002435.3(MPI):c.84_88del (p.Arg29fs) rs753839890
NM_002435.3(MPI):c.880dup (p.Val294fs) rs1555479351
NM_002435.3(MPI):c.969_970del (p.Phe324fs)
NM_002435.3(MPI):c.989_1005dup (p.Ser336fs)
NM_002435.3(MPI):c.991del (p.Glu331fs) rs1555479423
NM_002471.4(MYH6):c.1410+1G>A rs1566513862
NM_002471.4(MYH6):c.2459T>A (p.Ile820Asn) rs267606903
NM_002471.4(MYH6):c.2489C>T (p.Pro830Leu) rs267606906
NM_002471.4(MYH6):c.3193dup (p.Gln1065fs) rs863225269
NM_002471.4(MYH6):c.4034T>C (p.Leu1345Pro)
NM_002474.3(MYH11):c.1024G>T (p.Glu342Ter)
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs) rs1235801428
NM_002474.3(MYH11):c.1116del (p.Met372fs)
NM_002474.3(MYH11):c.1493_1494del (p.Glu498fs)
NM_002474.3(MYH11):c.1669C>T (p.Gln557Ter) rs1439991530
NM_002474.3(MYH11):c.1750-1G>A rs2151269056
NM_002474.3(MYH11):c.2135G>A (p.Arg712Gln) rs267606902
NM_002474.3(MYH11):c.2311C>T (p.Arg771Ter) rs2151260076
NM_002474.3(MYH11):c.2334del (p.Glu779fs)
NM_002474.3(MYH11):c.2344C>T (p.Arg782Ter) rs777173010
NM_002474.3(MYH11):c.2809_2810del (p.Arg937fs) rs749497185
NM_002474.3(MYH11):c.3277C>T (p.Gln1093Ter) rs2151244040
NM_002474.3(MYH11):c.3297del (p.Asp1100fs)
NM_002474.3(MYH11):c.3313C>T (p.Gln1105Ter)
NM_002474.3(MYH11):c.3376del (p.Asp1126fs) rs2041090817
NM_002474.3(MYH11):c.3422_3470del (p.Lys1141fs) rs797045725
NM_002474.3(MYH11):c.3603_3607dup (p.Gln1203fs) rs2041000390
NM_002474.3(MYH11):c.3722_3793del (p.Arg1241_Leu1264del) rs1555554098
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del) rs730880147
NM_002474.3(MYH11):c.3856_3858+1dup rs1013512621
NM_002474.3(MYH11):c.4116+1del rs2151219190
NM_002474.3(MYH11):c.4179dup (p.Lys1394fs)
NM_002474.3(MYH11):c.4315C>T (p.Gln1439Ter)
NM_002474.3(MYH11):c.4401C>G (p.Tyr1467Ter) rs8046180
NM_002474.3(MYH11):c.4578+1G>A rs397514037
NM_002474.3(MYH11):c.4578+1G>C rs397514037
NM_002474.3(MYH11):c.4578+1G>T rs397514037
NM_002474.3(MYH11):c.4578+2dup rs794728677
NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs) rs1567692384
NM_002474.3(MYH11):c.5083-1G>A rs1596712899
NM_002474.3(MYH11):c.5101_5102del (p.Arg1701fs)
NM_002474.3(MYH11):c.5188G>T (p.Glu1730Ter) rs766136761
NM_002474.3(MYH11):c.5599C>T (p.Gln1867Ter) rs2151192622
NM_002474.3(MYH11):c.[3791T>C;3824G>T]
NM_002476.2(MYL4):c.31G>A (p.Glu11Lys) rs886037778
NM_002476.2(MYL4):c.361C>T (p.Gln121Ter)
NM_002476.2(MYL4):c.532C>T (p.Gln178Ter)
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile) rs267606921
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile) rs2101742052
NM_002524.5(NRAS):c.175G>A (p.Ala59Thr) rs730880965
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002526.4(NT5E):c.1608dup (p.Val537fs) rs774200574
NM_002633.3(PGM1):c.1086dup (p.Gly363fs) rs1170935238
NM_002633.3(PGM1):c.1091del (p.Asn364fs) rs1557437034
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr) rs587777402
NM_002633.3(PGM1):c.1145-1G>C rs587776801
NM_002633.3(PGM1):c.119del (p.Ile40fs)
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs) rs763428801
NM_002633.3(PGM1):c.1474del (p.Leu492fs) rs1376645472
NM_002633.3(PGM1):c.1500del (p.Ile500fs)
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.28_37del (p.Gln10fs) rs759220275
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg) rs398122912
NM_002633.3(PGM1):c.423del (p.Ala142fs) rs2100982320
NM_002633.3(PGM1):c.511G>T (p.Gly171Ter)
NM_002633.3(PGM1):c.661del (p.Arg221fs) rs587777405
NM_002633.3(PGM1):c.689dup (p.Pro231fs)
NM_002633.3(PGM1):c.696_699del (p.Pro231_Tyr232insTer)
NM_002633.3(PGM1):c.877C>T (p.Arg293Ter)
NM_002633.3(PGM1):c.87_88del (p.Phe29fs) rs1570463842
NM_002633.3(PGM1):c.87_94del (p.Phe29fs)
NM_002633.3(PGM1):c.929_930del (p.Val310fs) rs2100988650
NM_002633.3(PGM1):c.946_997dup (p.Arg333fs)
NM_002635.4(SLC25A3):c.596T>G (p.Leu199Trp) rs2097595072
NM_002635.4(SLC25A3):c.883_895delinsCAGATAC (p.Gly295_Ser299delinsGlnIlePro) rs2097597579
NM_002667.4(PLN):c.-97-?_*1344+?del
NM_002667.5(PLN):c.105_106del (p.Phe35fs)
NM_002667.5(PLN):c.25C>T (p.Arg9Cys) rs111033559
NM_002667.5(PLN):c.26_29dup (p.Ala11fs) rs1779066083
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_002667.5(PLN):c.85C>T (p.Gln29Ter) rs1779072006
NM_002667.5(PLN):c.95_98del (p.Phe32fs) rs2114970035
NM_002667.5(PLN):c.9dup (p.Val4fs) rs2114969441
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.658C>T (p.Arg220Cys) rs1553311527
NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys) rs886037955
NM_002734.5(PRKAR1A):c.618_621del (p.Ile206fs) rs281864791
NM_002734.5(PRKAR1A):c.709-7_709-2del rs281864801
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_002745.5(MAPK1):c.968C>G (p.Pro323Arg) rs2068678455
NM_002755.4(MAP2K1):c.124C>T (p.Leu42Phe) rs397516789
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser) rs121908594
NM_002755.4(MAP2K1):c.173_187del (p.Gln58_Glu62del) rs2140579005
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del) rs869025339
NM_002755.4(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.4(MAP2K1):c.364A>G (p.Asn122Asp) rs876657651
NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln) rs397516792
NM_002755.4(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002755.4(MAP2K1):c.383G>C (p.Gly128Ala) rs121908596
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val) rs121908596
NM_002755.4(MAP2K1):c.388T>A (p.Tyr130Asn) rs397516793
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His) rs397516793
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys) rs121908595
NM_002755.4(MAP2K1):c.607G>C (p.Glu203Gln) rs1057519733
NM_002775.4(HTRA1):c.[126delG];[961G>A]
NM_002775.5(HTRA1):c.126del (p.Glu42fs) rs587776448
NM_002775.5(HTRA1):c.175_178del (p.Arg59fs)
NM_002775.5(HTRA1):c.184_185del (p.Cys62fs)
NM_002775.5(HTRA1):c.497G>T (p.Arg166Leu) rs864622781
NM_002775.5(HTRA1):c.517G>C (p.Ala173Pro) rs781563777
NM_002775.5(HTRA1):c.543del (p.Ala182fs) rs1273355332
NM_002775.5(HTRA1):c.614C>G (p.Ser205Cys) rs1554950703
NM_002775.5(HTRA1):c.754G>A (p.Ala252Thr) rs113993968
NM_002775.5(HTRA1):c.852C>A (p.Ser284Arg) rs864622782
NM_002775.5(HTRA1):c.865C>T (p.Gln289Ter) rs1554952291
NM_002775.5(HTRA1):c.883G>A (p.Gly295Arg) rs587776873
NM_002775.5(HTRA1):c.905G>A (p.Arg302Gln) rs2133449474
NM_002775.5(HTRA1):c.973-1G>A rs864622783
NM_002804.5(PSMC3):c.910C>T (p.Arg304Trp)
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met) rs121918467
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala) rs397507501
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) rs121918468
NM_002834.5(PTPN11):c.1381G>T (p.Ala461Ser) rs121918468
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala) rs121918469
NM_002834.5(PTPN11):c.1402A>C (p.Thr468Pro) rs397507537
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr) rs397507539
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1472C>A (p.Pro491His) rs397507540
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1493G>T (p.Arg498Leu) rs397507542
NM_002834.5(PTPN11):c.1502G>A (p.Arg501Lys) rs397507543
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr) rs121918458
NM_002834.5(PTPN11):c.1504T>G (p.Ser502Ala) rs121918458
NM_002834.5(PTPN11):c.1505C>T (p.Ser502Leu) rs397507544
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1517A>C (p.Gln506Pro) rs397507548
NM_002834.5(PTPN11):c.1520C>A (p.Thr507Lys) rs886039463
NM_002834.5(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
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.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.172A>C (p.Asn58His) rs397507505
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.174C>A (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.179G>A (p.Gly60Asp) rs397507509
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.5(PTPN11):c.179_181del (p.Gly60del) rs80338836
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.181G>C (p.Asp61His) rs397507510
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.205G>C (p.Glu69Gln) rs397507511
NM_002834.5(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu) rs397507512
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.5(PTPN11):c.214G>C (p.Ala72Pro) rs121918453
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.217A>C (p.Thr73Pro) rs397507513
NM_002834.5(PTPN11):c.217_218delinsCT (p.Thr73Leu) rs397516802
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln) rs121918464
NM_002834.5(PTPN11):c.227A>T (p.Glu76Val) rs121918465
NM_002834.5(PTPN11):c.228G>C (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.228G>T (p.Glu76Asp) rs397507514
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.5(PTPN11):c.317A>C (p.Asp106Ala) rs397507517
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys) rs397507518
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
NM_002834.5(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) rs397507527
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met) rs397507530
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser) rs121918463
NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys) rs121918463
NM_002834.5(PTPN11):c.855T>G (p.Phe285Leu) rs397516810
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr) rs121918455
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser) rs121918455
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala) rs397516813
NM_002880.4(RAF1):c.1279A>G (p.Ser427Gly) rs730881002
NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg) rs80338799
NM_002880.4(RAF1):c.1472C>T (p.Thr491Ile) 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.505G>C (p.Gly169Arg) rs886039607
NM_002880.4(RAF1):c.524A>G (p.His175Arg) rs397516822
NM_002880.4(RAF1):c.768G>T (p.Arg256Ser) rs397516826
NM_002880.4(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.4(RAF1):c.775T>A (p.Ser259Thr) rs3730271
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr) rs397516827
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys) rs397516827
NM_002880.4(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_002880.4(RAF1):c.779C>A (p.Thr260Lys) rs869025501
NM_002880.4(RAF1):c.781C>A (p.Pro261Thr) rs121434594
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg) rs397516828
NM_002880.4(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_002880.4(RAF1):c.786T>A (p.Asn262Lys) rs397516829
NM_002880.4(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_002880.4(RAF1):c.788T>G (p.Val263Gly) rs397516830
NM_002890.2(RASA1):c.1513A[3](p.Ile505Lysfs) rs1554048061
NM_002890.2:c.540-406_692+21735del
NM_002890.3(RASA1):c.1024dup (p.Glu342fs) rs1554045819
NM_002890.3(RASA1):c.1052G>A (p.Trp351Ter) rs1758886343
NM_002890.3(RASA1):c.1053G>A (p.Trp351Ter)
NM_002890.3(RASA1):c.1103-1G>T rs1759083657
NM_002890.3(RASA1):c.1134del (p.Ser379fs)
NM_002890.3(RASA1):c.1164_1165del (p.Tyr389fs) rs1759087658
NM_002890.3(RASA1):c.1192C>T (p.Arg398Ter) rs1210180190
NM_002890.3(RASA1):c.1220_1223del (p.Asn407fs)
NM_002890.3(RASA1):c.1222C>T (p.Gln408Ter) rs1759093156
NM_002890.3(RASA1):c.1248T>G (p.Tyr416Ter) rs1561300506
NM_002890.3(RASA1):c.1257dup (p.Gly420fs) rs1759404954
NM_002890.3(RASA1):c.1279C>T (p.Arg427Ter) rs975191415
NM_002890.3(RASA1):c.1319del (p.Pro440fs) rs2112431809
NM_002890.3(RASA1):c.132_152delinsACAGCGAAACTCCATCTCTCAAAAAAAAAAAAAAAAAAAAAGAAGTCTACTAAAAACAGTTTTTTTTAACTACAATATCCTAAATATACCTAATTTAGTTATAAACTAGCATAAGACTAGATTCTTTCAGTATGAAAAGTT (p.Ala45_Gly51delinsGlnArgAsnSerIleSerGlnLysLysLysLysLysLysArgSerLeuLeuLysThrValPhePheAsnTyrAsnIleLeuAsnIleProAsnLeuValIleAsnTer)
NM_002890.3(RASA1):c.1332+2T>G rs1759410564
NM_002890.3(RASA1):c.1336C>T (p.Gln446Ter) rs2112456363
NM_002890.3(RASA1):c.1339_1352del (p.Gln446_Glu447insTer)
NM_002890.3(RASA1):c.1358_1359del (p.Thr453fs) rs1060503439
NM_002890.3(RASA1):c.1429A>T (p.Lys477Ter)
NM_002890.3(RASA1):c.1460del (p.Gly487fs) rs2112459497
NM_002890.3(RASA1):c.1534C>T (p.Arg512Ter) rs1554048066
NM_002890.3(RASA1):c.1556T>G (p.Leu519Ter)
NM_002890.3(RASA1):c.1561_1562dup (p.Asp521fs)
NM_002890.3(RASA1):c.1577del (p.Ser526fs)
NM_002890.3(RASA1):c.1579_1582del (p.Val527fs) rs1760265136
NM_002890.3(RASA1):c.1619G>A (p.Cys540Tyr) rs137853217
NM_002890.3(RASA1):c.1657dup (p.Tyr553fs) rs2112474795
NM_002890.3(RASA1):c.1659C>A (p.Tyr553Ter) rs747745016
NM_002890.3(RASA1):c.172_173del (p.Ala58fs) rs2112222433
NM_002890.3(RASA1):c.1795delinsGTAAA (p.His599fs) rs1761153296
NM_002890.3(RASA1):c.1916C>G (p.Ser639Ter)
NM_002890.3(RASA1):c.1926dup (p.Val643fs) rs2112485022
NM_002890.3(RASA1):c.1932dup (p.Asp645Ter)
NM_002890.3(RASA1):c.1934+2T>G rs1761160392
NM_002890.3(RASA1):c.1980_1981dup (p.Lys661fs) rs2112486988
NM_002890.3(RASA1):c.1984_1988del (p.Thr662fs) rs2112486996
NM_002890.3(RASA1):c.1990_1994del (p.Lys664fs)
NM_002890.3(RASA1):c.1995_1999del (p.Ser665fs) rs2112487030
NM_002890.3(RASA1):c.2035C>T (p.Arg679Ter) rs1554049394
NM_002890.3(RASA1):c.2125C>T (p.Arg709Ter) rs1554049422
NM_002890.3(RASA1):c.2131C>T (p.Arg711Ter) rs863223718
NM_002890.3(RASA1):c.2136C>G (p.Tyr712Ter)
NM_002890.3(RASA1):c.2149dup (p.Ile717fs) rs1561322357
NM_002890.3(RASA1):c.2182G>T (p.Glu728Ter) rs1761341113
NM_002890.3(RASA1):c.2239C>T (p.Gln747Ter)
NM_002890.3(RASA1):c.2252_2255dup (p.Ala753fs) rs1580386963
NM_002890.3(RASA1):c.2325_2326del (p.Asp775fs)
NM_002890.3(RASA1):c.2329_2330del (p.Glu777fs) rs2112492304
NM_002890.3(RASA1):c.2388del (p.Thr796_Leu797insTer)
NM_002890.3(RASA1):c.2390del (p.Thr796_Leu797insTer) rs2112495582
NM_002890.3(RASA1):c.2402dup (p.Tyr801Ter) rs1761469547
NM_002890.3(RASA1):c.2422_2423del (p.Gln808fs) rs2112495617
NM_002890.3(RASA1):c.2451dup (p.Ile818fs) rs1761473113
NM_002890.3(RASA1):c.2474dup (p.Gln826fs)
NM_002890.3(RASA1):c.2500_2501del (p.Lys834fs)
NM_002890.3(RASA1):c.2529dup (p.Asn844Ter) rs878854569
NM_002890.3(RASA1):c.2532_2533delinsATTTGA (p.Asn844fs) rs1761580770
NM_002890.3(RASA1):c.2534_2535insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGTGAACACTAATTT (p.Leu845delinsPhePhePhePhePhePhePheXaaXaaXaaXaaPheTer)
NM_002890.3(RASA1):c.2557dup (p.Ser853fs) rs1554049825
NM_002890.3(RASA1):c.2603+1G>A rs983011713
NM_002890.3(RASA1):c.2620dup (p.Tyr874fs)
NM_002890.3(RASA1):c.2625del (p.Cys876fs)
NM_002890.3(RASA1):c.2648_2655del (p.His883fs) rs2112500780
NM_002890.3(RASA1):c.2655G>A (p.Trp885Ter) rs2112500793
NM_002890.3(RASA1):c.2698_2701del (p.Val900fs) rs886041232
NM_002890.3(RASA1):c.2707C>T (p.Arg903Ter) rs1554050230
NM_002890.3(RASA1):c.2724del (p.Ile909fs)
NM_002890.3(RASA1):c.2795dup (p.Leu932fs)
NM_002890.3(RASA1):c.2810_2811del (p.Val937fs) rs1761994695
NM_002890.3(RASA1):c.2866_2867del (p.Val956fs) rs1561331089
NM_002890.3(RASA1):c.2873del (p.Pro958fs) rs1554050584
NM_002890.3(RASA1):c.2891_2894del (p.Lys964fs) rs2112517213
NM_002890.3(RASA1):c.2909_2913dup (p.Asp972delinsPheTer) rs878854570
NM_002890.3(RASA1):c.2920del (p.Asn976fs) rs2112517308
NM_002890.3(RASA1):c.2925+1del rs1762098966
NM_002890.3(RASA1):c.2926-14C>G
NM_002890.3(RASA1):c.2942del (p.Pro981fs)
NM_002890.3(RASA1):c.2968del (p.Asp990fs)
NM_002890.3(RASA1):c.3020_3021insATGA (p.Asp1007delinsGluTer)
NM_002890.3(RASA1):c.3028C>T (p.Arg1010Ter) rs1762317272
NM_002890.3(RASA1):c.3043G>T (p.Glu1015Ter) rs1561333645
NM_002890.3(RASA1):c.3050del (p.Gly1017fs) rs2112525375
NM_002890.3(RASA1):c.3055C>T (p.Gln1019Ter) rs1060503440
NM_002890.3(RASA1):c.3091del (p.Glu1031fs)
NM_002890.3(RASA1):c.365C>A (p.Ser122Ter) rs1187087405
NM_002890.3(RASA1):c.383_384del (p.Leu128fs)
NM_002890.3(RASA1):c.402del (p.Pro136fs)
NM_002890.3(RASA1):c.426C>G (p.Tyr142Ter)
NM_002890.3(RASA1):c.434_451delinsA (p.Pro145fs)
NM_002890.3(RASA1):c.442dup (p.Ala148fs) rs751951068
NM_002890.3(RASA1):c.474dup (p.Leu159fs)
NM_002890.3(RASA1):c.475_476del (p.Leu159fs) rs797044451
NM_002890.3(RASA1):c.492C>A (p.Tyr164Ter) rs1753698267
NM_002890.3(RASA1):c.496G>T (p.Glu166Ter)
NM_002890.3(RASA1):c.499del (p.Glu167fs) rs2112223281
NM_002890.3(RASA1):c.538del (p.Gln180fs) rs2112223340
NM_002890.3(RASA1):c.539+4A>G
NM_002890.3(RASA1):c.539+4dup
NM_002890.3(RASA1):c.543G>A (p.Trp181Ter) rs772301300
NM_002890.3(RASA1):c.578_581dup (p.Leu195fs) rs1757588488
NM_002890.3(RASA1):c.583del (p.Leu195fs)
NM_002890.3(RASA1):c.611dup (p.Tyr204Ter)
NM_002890.3(RASA1):c.613_617del (p.Leu205fs) rs1060503441
NM_002890.3(RASA1):c.617_621del (p.Ile206fs) rs2112366112
NM_002890.3(RASA1):c.656C>G (p.Ser219Ter) rs1554044823
NM_002890.3(RASA1):c.768C>A (p.Tyr256Ter) rs1757679644
NM_002890.3(RASA1):c.78del (p.Ser27fs)
NM_002890.3(RASA1):c.806_810del (p.Leu269fs)
NM_002890.3(RASA1):c.828+5G>T rs2112369561
NM_002890.3(RASA1):c.829-9G>A rs1348578241
NM_002890.3(RASA1):c.841A>T (p.Arg281Ter)
NM_002890.3(RASA1):c.853C>T (p.Arg285Ter) rs137853218
NM_002890.3(RASA1):c.902dup (p.Gly304fs)
NM_002890.3(RASA1):c.934_938del (p.Glu312fs) rs1758098122
NM_002890.3(RASA1):c.957G>A (p.Trp319Ter)
NM_002977.3(SCN9A):c.[2794A>C;2971G>T]
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_003140.3(SRY):c.12T>A (p.Tyr4Ter) rs104894975
NM_003140.3(SRY):c.145G>T (p.Gly49Ter)
NM_003140.3(SRY):c.169C>T (p.Gln57Ter) rs1603308308
NM_003140.3(SRY):c.174_175insC (p.Arg59fs)
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.263C>A (p.Ser88Ter) rs1556370558
NM_003140.3(SRY):c.264dup (p.Glu89fs) rs1556370556
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.288C>G (p.Tyr96Ter) rs1556370548
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.331C>T (p.Gln111Ter) rs1556370543
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>G (p.Tyr127Cys) rs104894973
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_003140.3(SRY):c.89G>T (p.Arg30Ile) rs1556370576
NM_003221.4(TFAP2B):c.218C>G (p.Pro73Arg) rs80338910
NM_003221.4(TFAP2B):c.439_442del (p.Pro147fs) rs879253871
NM_003221.4(TFAP2B):c.541-2A>T rs879253870
NM_003221.4(TFAP2B):c.601+5G>A rs80338911
NM_003221.4(TFAP2B):c.650del (p.Gly217fs) rs1561964103
NM_003221.4(TFAP2B):c.706C>A (p.Arg236Ser) rs80338912
NM_003221.4(TFAP2B):c.706C>T (p.Arg236Cys) rs80338912
NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp) rs80338914
NM_003221.4(TFAP2B):c.854G>A (p.Arg285Gln) rs80338915
NM_003221.4(TFAP2B):c.898C>T (p.Arg300Cys) rs80338917
NM_003238.6(TGFB2):c.1012C>A (p.Pro338Thr) rs2102630084
NM_003238.6(TGFB2):c.1013C>A (p.Pro338His) rs387907278
NM_003238.6(TGFB2):c.1022_1026del (p.Tyr341fs) rs398122884
NM_003238.6(TGFB2):c.1023C>A (p.Tyr341Ter) rs1553303357
NM_003238.6(TGFB2):c.1069_1072del (p.Asp357fs)
NM_003238.6(TGFB2):c.127C>T (p.Gln43Ter)
NM_003238.6(TGFB2):c.145A>T (p.Lys49Ter) rs2102527516
NM_003238.6(TGFB2):c.171T>A (p.Tyr57Ter) rs897070997
NM_003238.6(TGFB2):c.186del (p.Val63fs)
NM_003238.6(TGFB2):c.194dup (p.Glu66fs) rs2102527595
NM_003238.6(TGFB2):c.196del (p.Glu66fs) rs1553292099
NM_003238.6(TGFB2):c.238_239delinsAAG (p.Glu80fs) rs1571821003
NM_003238.6(TGFB2):c.252dup (p.Arg85fs) rs1553292112
NM_003238.6(TGFB2):c.274G>T (p.Glu92Ter) rs1656706610
NM_003238.6(TGFB2):c.280del (p.Ser94fs) rs1553292123
NM_003238.6(TGFB2):c.28del (p.Phe9_Leu10insTer)
NM_003238.6(TGFB2):c.291_293dup (p.Tyr98Ter)
NM_003238.6(TGFB2):c.294_308del (p.Ala100_Tyr104del) rs398122883
NM_003238.6(TGFB2):c.297C>A (p.Tyr99Ter) rs760759052
NM_003238.6(TGFB2):c.297C>G (p.Tyr99Ter) rs760759052
NM_003238.6(TGFB2):c.301A>T (p.Lys101Ter)
NM_003238.6(TGFB2):c.329_330dup (p.Phe111fs) rs2102527910
NM_003238.6(TGFB2):c.375_378del (p.Tyr126fs)
NM_003238.6(TGFB2):c.391C>T (p.Arg131Ter) rs869025531
NM_003238.6(TGFB2):c.404C>G (p.Ser135Ter) rs2102594816
NM_003238.6(TGFB2):c.41_42insTATCT (p.Val15fs)
NM_003238.6(TGFB2):c.447_448del (p.Phe149fs) rs1658870968
NM_003238.6(TGFB2):c.450_451del (p.Arg150fs)
NM_003238.6(TGFB2):c.456dup (p.Arg153fs) rs2102594880
NM_003238.6(TGFB2):c.457del (p.Arg153fs)
NM_003238.6(TGFB2):c.490C>T (p.Gln164Ter) rs1658873227
NM_003238.6(TGFB2):c.544C>T (p.Gln182Ter) rs730880221
NM_003238.6(TGFB2):c.576_577del (p.Arg193fs) rs1064796256
NM_003238.6(TGFB2):c.589G>T (p.Glu197Ter)
NM_003238.6(TGFB2):c.655G>T (p.Gly219Ter)
NM_003238.6(TGFB2):c.678T>A (p.Cys226Ter)
NM_003238.6(TGFB2):c.687C>A (p.Cys229Ter) rs398122885
NM_003238.6(TGFB2):c.765del (p.Thr256fs)
NM_003238.6(TGFB2):c.821del (p.Asn274fs) rs863223796
NM_003238.6(TGFB2):c.821dup (p.Asn274fs) rs863223796
NM_003238.6(TGFB2):c.868dup (p.Arg290fs) rs2102628609
NM_003238.6(TGFB2):c.892_901del (p.Arg298fs) rs1553303203
NM_003238.6(TGFB2):c.895C>T (p.Arg299Trp) rs863223792
NM_003238.6(TGFB2):c.896G>A (p.Arg299Gln) rs1057521150
NM_003238.6(TGFB2):c.89del (p.Asp30fs)
NM_003238.6(TGFB2):c.904C>A (p.Arg302Ser) rs869312903
NM_003238.6(TGFB2):c.904C>T (p.Arg302Cys) rs869312903
NM_003238.6(TGFB2):c.905G>A (p.Arg302His) rs1553303213
NM_003238.6(TGFB2):c.912_930del (p.Asp305fs) rs2102628675
NM_003238.6(TGFB2):c.918_923dup (p.Tyr308Ter) rs1659965467
NM_003238.6(TGFB2):c.933-1G>A
NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys) rs1553303352
NM_003238.6(TGFB2):c.959del (p.Arg320fs)
NM_003238.6(TGFB2):c.986dup (p.Asp329fs) rs2102630058
NM_003238.6(TGFB2):c.990dup (p.Gly331fs) rs1571904218
NM_003238.6(TGFB2):c.9del (p.Cys4fs)
NM_003239.5(TGFB3):c.1034C>G (p.Ser345Ter) rs1060502827
NM_003239.5(TGFB3):c.109A>T (p.Lys37Ter) rs2035418540
NM_003239.5(TGFB3):c.1102_1105del (p.Leu368fs) rs1555360047
NM_003239.5(TGFB3):c.1219A>T (p.Lys407Ter) rs1248127840
NM_003239.5(TGFB3):c.1226G>A (p.Cys409Tyr) rs398122984
NM_003239.5(TGFB3):c.170_171del (p.Pro57fs)
NM_003239.5(TGFB3):c.170del (p.Pro57fs)
NM_003239.5(TGFB3):c.170dup (p.Pro57_Glu58insTer) rs2140254449
NM_003239.5(TGFB3):c.321dup (p.Phe108fs) rs1555361385
NM_003239.5(TGFB3):c.355del (p.Glu119fs) rs2140246004
NM_003239.5(TGFB3):c.411del (p.Ser138fs) rs2035295129
NM_003239.5(TGFB3):c.427A>T (p.Arg143Ter)
NM_003239.5(TGFB3):c.436del (p.Leu146fs) rs2140245836
NM_003239.5(TGFB3):c.442C>T (p.Arg148Ter) rs1057523647
NM_003239.5(TGFB3):c.496C>T (p.Gln166Ter)
NM_003239.5(TGFB3):c.496_497del (p.Gln166fs)
NM_003239.5(TGFB3):c.516+1G>T
NM_003239.5(TGFB3):c.547C>T (p.Gln183Ter)
NM_003239.5(TGFB3):c.621del (p.Val208fs) rs2140245186
NM_003239.5(TGFB3):c.638del (p.Leu212_Leu213insTer)
NM_003239.5(TGFB3):c.704del (p.Asn235fs) rs875989817
NM_003239.5(TGFB3):c.722del (p.Asn241fs)
NM_003239.5(TGFB3):c.723del (p.Asn241fs) rs2140240223
NM_003239.5(TGFB3):c.754+2T>C rs875989816
NM_003239.5(TGFB3):c.787G>C (p.Asp263His) rs796051886
NM_003239.5(TGFB3):c.878del (p.Gln293fs)
NM_003239.5(TGFB3):c.883_884del (p.Gly295fs) rs1060502826
NM_003239.5(TGFB3):c.886_893dup (p.Lys298fs) rs1555360368
NM_003239.5(TGFB3):c.898C>T (p.Arg300Trp) rs796051885
NM_003239.5(TGFB3):c.899G>A (p.Arg300Gln) rs587777617
NM_003239.5(TGFB3):c.912dup (p.Asn305fs)
NM_003239.5(TGFB3):c.95_96insA (p.Phe32fs)
NM_003239.5(TGFB3):c.973C>T (p.Arg325Ter) rs1555360229
NM_003239.5(TGFB3):c.989G>A (p.Trp330Ter) rs1555360222
NM_003239.5(TGFB3):c.990G>A (p.Trp330Ter) rs2140236217
NM_003239.5(TGFB3):c.996G>A (p.Trp332Ter) rs2140236210
NM_003242.6(TGFBR2):c.1006T>A (p.Tyr336Asn) rs104893812
NM_003242.6(TGFBR2):c.1006T>G (p.Tyr336Asp) rs104893812
NM_003242.6(TGFBR2):c.1058C>T (p.Ser353Phe) rs1553630235
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro) rs104893813
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) rs727504292
NM_003242.6(TGFBR2):c.1069G>T (p.Gly357Trp) rs104893814
NM_003242.6(TGFBR2):c.1130A>G (p.His377Arg) rs1553630274
NM_003242.6(TGFBR2):c.1133G>A (p.Arg378Lys)
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser) rs193922660
NM_003242.6(TGFBR2):c.1152T>G (p.Asn384Lys) rs193922661
NM_003242.6(TGFBR2):c.1177T>G (p.Cys393Gly) rs2125436754
NM_003242.6(TGFBR2):c.1178G>A (p.Cys393Tyr) rs886039106
NM_003242.6(TGFBR2):c.1240G>A (p.Ala414Thr)
NM_003242.6(TGFBR2):c.1240G>C (p.Ala414Pro) rs2125437095
NM_003242.6(TGFBR2):c.1270T>C (p.Tyr424His) rs1559467821
NM_003242.6(TGFBR2):c.1271A>G (p.Tyr424Cys) rs878854610
NM_003242.6(TGFBR2):c.1273A>C (p.Met425Leu) rs104893817
NM_003242.6(TGFBR2):c.1273A>G (p.Met425Val) rs104893817
NM_003242.6(TGFBR2):c.1273A>T (p.Met425Leu)
NM_003242.6(TGFBR2):c.1280C>T (p.Pro427Leu) rs104893818
NM_003242.6(TGFBR2):c.1285G>T (p.Val429Phe)
NM_003242.6(TGFBR2):c.1301T>A (p.Met434Lys) rs1575158954
NM_003242.6(TGFBR2):c.1307T>C (p.Leu436Ser) rs2125438986
NM_003242.6(TGFBR2):c.1322C>T (p.Ser441Phe)
NM_003242.6(TGFBR2):c.1330C>T (p.Gln444Ter)
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_003242.6(TGFBR2):c.1342T>C (p.Tyr448His) rs2125439164
NM_003242.6(TGFBR2):c.1346C>G (p.Ser449Cys) rs104893807
NM_003242.6(TGFBR2):c.1346C>T (p.Ser449Phe) rs104893807
NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys) rs104893811
NM_003242.6(TGFBR2):c.1379G>A (p.Arg460His) rs104893816
NM_003242.6(TGFBR2):c.1379G>T (p.Arg460Leu) rs104893816
NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg) rs1553630457
NM_003242.6(TGFBR2):c.1397-1G>A rs1553631693
NM_003242.6(TGFBR2):c.1397-2A>G rs587776770
NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp) rs863224935
NM_003242.6(TGFBR2):c.1409A>G (p.Tyr470Cys) rs760797386
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1511G>A (p.Trp504Ter)
NM_003242.6(TGFBR2):c.1512G>A (p.Trp504Ter) rs1575165272
NM_003242.6(TGFBR2):c.1524+1G>A rs727503475
NM_003242.6(TGFBR2):c.1524+1G>T rs727503475
NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=) rs121918715
NM_003242.6(TGFBR2):c.1558T>C (p.Cys520Arg) rs2125455193
NM_003242.6(TGFBR2):c.1561T>C (p.Trp521Arg) rs1575166666
NM_003242.6(TGFBR2):c.1564G>A (p.Asp522Asn) rs863223854
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn) rs727504421
NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln) rs121918714
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val) rs727503476
NM_003242.6(TGFBR2):c.1582C>A (p.Arg528Ser) rs104893810
NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys) rs104893810
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) rs104893815
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_003242.6(TGFBR2):c.1610G>C (p.Arg537Pro) rs1057524810
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys) rs863223856
NM_003242.6(TGFBR2):c.831G>C (p.Lys277Asn)
NM_003242.6(TGFBR2):c.831G>T (p.Lys277Asn) rs886038794
NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg) rs727503472
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe) rs1553630171
NM_003242.6(TGFBR2):c.914T>A (p.Leu305His) rs1553630174
NM_003242.6(TGFBR2):c.923T>C (p.Leu308Pro) rs28934568
NM_003242.6(TGFBR2):c.961T>G (p.Tyr321Asp) rs1699352567
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.454G>A (p.Glu152Lys) rs1436187022
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_003319.4(TTN):c.63060_63061del (p.Thr21020_Cys21021insTer) rs773840992
NM_003413.3(ZIC3):c.(?_-1)_(*1_?)del
NM_003413.4(ZIC3):c.109_112del (p.Leu37fs)
NM_003413.4(ZIC3):c.1103del (p.Arg368fs) rs2124185586
NM_003413.4(ZIC3):c.1213A>G (p.Lys405Glu) rs104894962
NM_003413.4(ZIC3):c.1222A>T (p.Lys408Ter) rs387906498
NM_003413.4(ZIC3):c.128C>A (p.Ser43Ter) rs1569345504
NM_003413.4(ZIC3):c.128C>G (p.Ser43Ter) rs1569345504
NM_003413.4(ZIC3):c.463G>T (p.Glu155Ter)
NM_003413.4(ZIC3):c.476_479del (p.Tyr159fs) rs1556029841
NM_003413.4(ZIC3):c.508_514del (p.Ala170fs) rs1931360759
NM_003413.4(ZIC3):c.535dup (p.Val179fs) rs1569345723
NM_003413.4(ZIC3):c.571del (p.Glu191fs) rs1602742808
NM_003413.4(ZIC3):c.593_609del (p.Pro198fs) rs1569345742
NM_003413.4(ZIC3):c.599del (p.Arg200fs)
NM_003413.4(ZIC3):c.727_740del (p.Met243fs)
NM_003413.4(ZIC3):c.745C>T (p.Gln249Ter) rs104894960
NM_003413.4(ZIC3):c.755C>A (p.Ser252Ter) rs1203069392
NM_003413.4(ZIC3):c.757T>A (p.Cys253Ser) rs122463167
NM_003413.4(ZIC3):c.758G>C (p.Cys253Ser) rs104894961
NM_003413.4(ZIC3):c.763T>G (p.Trp255Gly) rs122463168
NM_003413.4(ZIC3):c.804C>A (p.Cys268Ter) rs122462166
NM_003413.4(ZIC3):c.810del (p.Thr271fs) rs2124184171
NM_003413.4(ZIC3):c.860_864del (p.Val287fs) rs2124184204
NM_003413.4(ZIC3):c.968C>T (p.Thr323Met) rs122462165
NM_003413.4(ZIC3):c.972_973insTT (p.Glu325fs) rs2124184319
NM_003413.4(ZIC3):c.976A>T (p.Lys326Ter)
NM_003476.5(CSRP3):c.111C>A (p.Cys37Ter) rs1850628800
NM_003476.5(CSRP3):c.160_164delinsAGGGG (p.Ser54_Glu55delinsArgGly) rs281865416
NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly) rs104894204
NM_003476.5(CSRP3):c.186T>G (p.Tyr62Ter)
NM_003476.5(CSRP3):c.233G>T (p.Gly78Val) rs963128995
NM_003476.5(CSRP3):c.279del (p.Gln93fs)
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs) rs960577385
NM_003476.5(CSRP3):c.373A>T (p.Lys125Ter) rs1554967541
NM_003476.5(CSRP3):c.377C>A (p.Ser126Ter)
NM_003476.5(CSRP3):c.377C>G (p.Ser126Ter) rs1850523074
NM_003476.5(CSRP3):c.420G>C (p.Trp140Cys) rs1565050320
NM_003476.5(CSRP3):c.50_51insGCAGATTTCTT (p.Tyr18fs) rs1336937886
NM_003480.4(MFAP5):c.2T>C (p.Met1Thr) rs1942169361
NM_003673.4(TCAP):c.103G>T (p.Glu35Ter) rs779699520
NM_003673.4(TCAP):c.110+2T>C
NM_003673.4(TCAP):c.110+5G>A rs794729178
NM_003673.4(TCAP):c.110_110+1del rs786205076
NM_003673.4(TCAP):c.136_137del (p.Gln46fs) rs2057249899
NM_003673.4(TCAP):c.151_154del (p.Tyr51fs)
NM_003673.4(TCAP):c.166C>T (p.Gln56Ter) rs1435437660
NM_003673.4(TCAP):c.26_33dup (p.Glu12fs) rs778568339
NM_003673.4(TCAP):c.34del (p.Glu12fs) rs1555606959
NM_003673.4(TCAP):c.34dup (p.Glu12fs) rs1555606959
NM_003673.4(TCAP):c.410C>T (p.Thr137Ile) rs773317399
NM_003673.4(TCAP):c.43_49dup (p.Arg17delinsLeuTer) rs886044421
NM_003673.4(TCAP):c.45_46del (p.Cys15_Glu16delinsTer)
NM_003673.4(TCAP):c.472C>A (p.Arg158Ser) rs397516863
NM_003673.4(TCAP):c.50_51dup (p.Arg18fs)
NM_003737.4(DCHS1):c.5679C>A (p.Tyr1893Ter) rs959285916
NM_003937.3(KYNU):c.1035T>A (p.Ser345Arg) rs771131526
NM_003937.3(KYNU):c.1045_1051del (p.Phe349fs) rs770642379
NM_003937.3(KYNU):c.361_363del (p.Lys121del) rs767060858
NM_003937.3(KYNU):c.374-433_435+369del
NM_003978.5(PSTPIP1):c.865G>C (p.Asp289His) rs774164456
NM_004004.6(GJB2):c.205T>C (p.Phe69Leu) rs1593351503
NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter) rs398123827
NM_004006.3(DMD):c.10086+1G>A rs398123828
NM_004006.3(DMD):c.10098AGA[1] (p.Glu3367del) rs886042840
NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter) rs104894787
NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter) rs104894790
NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter) rs398123832
NM_004006.3(DMD):c.10210dup (p.Asp3404fs) rs2040821014
NM_004006.3(DMD):c.10224dup (p.Pro3409fs) rs2148280837
NM_004006.3(DMD):c.10454del (p.Leu3485fs) rs398123839
NM_004006.3(DMD):c.1093C>T (p.Gln365Ter) rs794726993
NM_004006.3(DMD):c.1529_1530del (p.Leu510fs) rs398123863
NM_004006.3(DMD):c.1603-2A>T rs773779441
NM_004006.3(DMD):c.1637G>A (p.Trp546Ter) rs1057518962
NM_004006.3(DMD):c.178C>T (p.Gln60Ter) rs128626233
NM_004006.3(DMD):c.2281_2285del (p.Glu761fs) rs398123881
NM_004006.3(DMD):c.2665C>T (p.Arg889Ter) rs1060502639
NM_004006.3(DMD):c.31+1G>T rs398123923
NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter) rs398123929
NM_004006.3(DMD):c.3259C>T (p.Gln1087Ter) rs886039536
NM_004006.3(DMD):c.4345-3C>G rs2097987224
NM_004006.3(DMD):c.4375C>T (p.Arg1459Ter) rs398123953
NM_004006.3(DMD):c.4375del (p.Arg1459fs) rs2097987064
NM_004006.3(DMD):c.4684del (p.Arg1562fs) rs2147473202
NM_004006.3(DMD):c.4838G>A (p.Trp1613Ter) rs1557315928
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter) rs398123973
NM_004006.3(DMD):c.5287C>T (p.Arg1763Ter) rs398123981
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter) rs1569559204
NM_004006.3(DMD):c.5530C>T (p.Arg1844Ter) rs1064325
NM_004006.3(DMD):c.568C>T (p.Gln190Ter) rs2148751523
NM_004006.3(DMD):c.5697del (p.Lys1899fs) rs794727661
NM_004006.3(DMD):c.5697dup (p.Leu1900fs) rs794727661
NM_004006.3(DMD):c.583C>T (p.Arg195Ter) rs398123999
NM_004006.3(DMD):c.6423C>A (p.Tyr2141Ter) rs1425702864
NM_004006.3(DMD):c.7657C>T (p.Arg2553Ter) rs398124050
NM_004006.3(DMD):c.8218-2A>G rs886039478
NM_004006.3(DMD):c.8357G>A (p.Trp2786Ter) rs863225012
NM_004006.3(DMD):c.835A>G (p.Thr279Ala) rs128627255
NM_004006.3(DMD):c.8391-1_8391delinsAA rs1060502619
NM_004006.3(DMD):c.8416C>T (p.Gln2806Ter) rs2147076500
NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter) rs398124074
NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter) rs128627256
NM_004006.3(DMD):c.8800G>T (p.Glu2934Ter) rs1603222556
NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter) rs128625229
NM_004006.3(DMD):c.9204_9207del (p.Asn3068fs) rs863225015
NM_004006.3(DMD):c.93+1G>C rs886042604
NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter) rs398124092
NM_004006.3(DMD):c.9361+1G>A rs398124094
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter) rs104894797
NM_004006.3(DMD):c.9G>A (p.Trp3Ter) rs398122853
NM_004006.3:c.(6438+1_6439-1)_(6614+1_6615-1)del
NM_004100.5(EYA4):c.1221_1225del (p.Arg408fs) rs1562498114
NM_004100.5(EYA4):c.1291C>T (p.Gln431Ter)
NM_004100.5(EYA4):c.1416_1417del (p.Gly473fs)
NM_004100.5(EYA4):c.1472del (p.Leu491fs)
NM_004100.5(EYA4):c.1574G>A (p.Trp525Ter)
NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter) rs1554275988
NM_004100.5(EYA4):c.1776dup (p.Gly593fs)
NM_004100.5(EYA4):c.211G>T (p.Glu71Ter)
NM_004100.5(EYA4):c.223_224del (p.Val75fs)
NM_004100.5(EYA4):c.242G>A (p.Trp81Ter)
NM_004100.5(EYA4):c.511G>C (p.Gly171Arg)
NM_004100.5(EYA4):c.579C>G (p.Tyr193Ter)
NM_004100.5(EYA4):c.61del (p.Val21fs)
NM_004100.5(EYA4):c.67C>T (p.Gln23Ter) rs1293420539
NM_004100.5(EYA4):c.724_805-957del
NM_004100.5(EYA4):c.832C>T (p.Gln278Ter) rs2128674457
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
NM_004168.4(SDHA):c.1468G>T (p.Glu490Ter) rs1554000360
NM_004168.4(SDHA):c.1571C>T (p.Ala524Val) rs137852767
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu) rs137852768
NM_004168.4(SDHA):c.667del (p.Asp223fs) rs587782077
NM_004168.4(SDHA):c.688del (p.Glu230fs) rs1553998199
NM_004278.4(PIGL):c.274del (p.Leu92fs) rs758633805
NM_004278.4(PIGL):c.652C>T (p.Gln218Ter) rs139004722
NM_004281.4(BAG3):c.1009dup (p.Ile337fs)
NM_004281.4(BAG3):c.1013dup (p.Ile339fs)
NM_004281.4(BAG3):c.1031_1032del (p.Lys344fs) rs1847237761
NM_004281.4(BAG3):c.1057C>T (p.Gln353Ter) rs1847238300
NM_004281.4(BAG3):c.1057del (p.Gln353fs) rs2134068813
NM_004281.4(BAG3):c.1067del (p.Pro356fs) rs727505109
NM_004281.4(BAG3):c.1067dup (p.Pro357fs)
NM_004281.4(BAG3):c.1088_1708del (p.Glu363_Pro569del) rs2134068860
NM_004281.4(BAG3):c.108G>A (p.Trp36Ter) rs1846844070
NM_004281.4(BAG3):c.1153_1160del (p.Ser385fs) rs2134068940
NM_004281.4(BAG3):c.1161dup (p.Lys388fs) rs1554877765
NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter) rs117749531
NM_004281.4(BAG3):c.1292dup (p.Val432fs) rs886039182
NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter)
NM_004281.4(BAG3):c.1326dup (p.Glu443Ter) rs2134069217
NM_004281.4(BAG3):c.1348A>T (p.Lys450Ter) rs765426544
NM_004281.4(BAG3):c.1353C>A (p.Tyr451Ter) rs2134069248
NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) rs397516881
NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro) rs397514507
NM_004281.4(BAG3):c.1408C>T (p.Pro470Ser) rs756020699
NM_004281.4(BAG3):c.1414G>T (p.Gly472Ter)
NM_004281.4(BAG3):c.1430G>A (p.Arg477His) rs387906876
NM_004281.4(BAG3):c.146G>A (p.Trp49Ter) rs1564767043
NM_004281.4(BAG3):c.147G>A (p.Trp49Ter)
NM_004281.4(BAG3):c.160del (p.Val54fs)
NM_004281.4(BAG3):c.165del (p.Ser56fs) rs2134050674
NM_004281.4(BAG3):c.206dup (p.Ser70fs) rs1554876984
NM_004281.4(BAG3):c.252_258dup (p.Pro87fs) rs1564773559
NM_004281.4(BAG3):c.258C>A (p.Tyr86Ter)
NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter) rs1554876999
NM_004281.4(BAG3):c.262C>T (p.Gln88Ter) rs1554877001
NM_004281.4(BAG3):c.268C>T (p.Arg90Ter) rs1057517945
NM_004281.4(BAG3):c.277dup (p.Tyr93fs) rs1564773589
NM_004281.4(BAG3):c.280_284dup (p.Ile96fs)
NM_004281.4(BAG3):c.329dup (p.His112fs) rs1344275862
NM_004281.4(BAG3):c.331_332del (p.Phe111fs) rs2134063372
NM_004281.4(BAG3):c.346C>T (p.Gln116Ter)
NM_004281.4(BAG3):c.351_352insTGGATGCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGCGGCGGCGGCAGCCCAGCCCCCAGCCT (p.Gly118fs)
NM_004281.4(BAG3):c.358C>T (p.Gln120Ter)
NM_004281.4(BAG3):c.361C>T (p.Arg121Ter) rs2134063421
NM_004281.4(BAG3):c.36_40del (p.Ala13fs)
NM_004281.4(BAG3):c.38_39dup (p.Ser14fs) rs2134050486
NM_004281.4(BAG3):c.403C>T (p.Gln135Ter) rs1847126002
NM_004281.4(BAG3):c.434_437del (p.Thr145fs)
NM_004281.4(BAG3):c.448C>T (p.Gln150Ter)
NM_004281.4(BAG3):c.448_449del (p.Gln150fs)
NM_004281.4(BAG3):c.457C>T (p.Gln153Ter) rs1474660052
NM_004281.4(BAG3):c.488del (p.Pro163fs) rs1847128695
NM_004281.4(BAG3):c.514C>T (p.Gln172Ter) rs1589630001
NM_004281.4(BAG3):c.530_531del (p.Ala176_Ser177insTer) rs2134064943
NM_004281.4(BAG3):c.537C>A (p.Cys179Ter) rs1564774433
NM_004281.4(BAG3):c.598C>T (p.Gln200Ter) rs2134065052
NM_004281.4(BAG3):c.607dup (p.Arg203fs) rs1554877224
NM_004281.4(BAG3):c.612del (p.Tyr205fs) rs2134065084
NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) rs1589630141
NM_004281.4(BAG3):c.626C>A (p.Pro209Gln) rs121918312
NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004281.4(BAG3):c.640C>T (p.Gln214Ter) rs2134065136
NM_004281.4(BAG3):c.652del (p.Arg218fs) rs1589630173
NM_004281.4(BAG3):c.654del (p.Pro219fs) rs2134065158
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004281.4(BAG3):c.720C>G (p.Tyr240Ter)
NM_004281.4(BAG3):c.727dup (p.His243fs)
NM_004281.4(BAG3):c.72del (p.Gly25fs) rs727502897
NM_004281.4(BAG3):c.72dup (p.Gly25fs) rs727502897
NM_004281.4(BAG3):c.730C>T (p.Gln244Ter) rs876657634
NM_004281.4(BAG3):c.751C>T (p.Gln251Ter) rs1343231277
NM_004281.4(BAG3):c.751del (p.Gln251fs) rs1847165958
NM_004281.4(BAG3):c.765G>A (p.Trp255Ter) rs1564774668
NM_004281.4(BAG3):c.766G>T (p.Glu256Ter) rs2134065278
NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) rs1554875409
NM_004281.4(BAG3):c.803C>A (p.Ser268Ter)
NM_004281.4(BAG3):c.811C>T (p.Gln271Ter) rs2134065350
NM_004281.4(BAG3):c.824del (p.Ser275fs) rs2134065363
NM_004281.4(BAG3):c.855_859dup (p.Leu287fs) rs1057518511
NM_004281.4(BAG3):c.907C>T (p.Gln303Ter)
NM_004281.4(BAG3):c.910C>T (p.Gln304Ter) rs2134068635
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137
NM_004281.4(BAG3):c.946C>T (p.Gln316Ter) rs1847236072
NM_004281.4(BAG3):c.969_972del (p.Lys324fs) rs1589632398
NM_004281.4(BAG3):c.96_97del (p.Gln33fs)
NM_004281.4(BAG3):c.974del (p.Pro325fs) rs1847236575
NM_004302.5(ACVR1B):c.912G>A (p.Met304Ile) rs2120691810
NM_004317.4(GET3):c.488T>C (p.Val163Ala)
NM_004317.4(GET3):c.[867C>G;913C>T]
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1405G>A (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1454T>G (p.Leu485Trp) rs397507475
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1455G>T (p.Leu485Phe) rs180177036
NM_004333.6(BRAF):c.1455_1469del (p.Leu485_Pro490delinsPhe) rs2129019628
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu) rs180177037
NM_004333.6(BRAF):c.1497A>C (p.Lys499Asn) rs397507476
NM_004333.6(BRAF):c.1497A>T (p.Lys499Asn) rs397507476
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.1502A>T (p.Glu501Val) rs180177039
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln) rs869025340
NM_004333.6(BRAF):c.1574T>C (p.Leu525Pro) rs869025340
NM_004333.6(BRAF):c.1592G>C (p.Trp531Ser) rs397507478
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.1695T>G (p.Asp565Glu) rs397507480
NM_004333.6(BRAF):c.1720C>T (p.His574Tyr) rs397516894
NM_004333.6(BRAF):c.1722C>G (p.His574Gln) rs397507481
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp) rs180177040
NM_004333.6(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1796C>G (p.Thr599Arg) rs121913375
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799_1810delinsATG (p.Val600_Trp604delinsAspGly)
NM_004333.6(BRAF):c.1801A>C (p.Lys601Gln) rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004333.6(BRAF):c.1802A>T (p.Lys601Ile) rs397507484
NM_004333.6(BRAF):c.1906C>T (p.Gln636Ter) rs1585998247
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.6(BRAF):c.2128-4_2129del rs1131692058
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.6(BRAF):c.722C>A (p.Thr241Lys) rs387906660
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.730A>C (p.Thr244Pro) rs397507465
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.735A>T (p.Leu245Phe) rs397507466
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro) rs180177034
NM_004333.6(BRAF):c.739T>C (p.Phe247Leu) rs397516903
NM_004333.6(BRAF):c.741T>A (p.Phe247Leu)
NM_004333.6(BRAF):c.741T>G (p.Phe247Leu) rs397509343
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg) rs180177035
NM_004387.3(NKX2-5):c.-229_*465del
NM_004387.3(NKX2-5):c.-229_334del rs1581111034
NM_004387.4(NKX2-5):c.147_163delinsGCCTCCT (p.Ala50fs) rs1561621507
NM_004387.4(NKX2-5):c.160_161insCTGGCCCG (p.Glu54fs) rs1761438700
NM_004387.4(NKX2-5):c.167_186dup (p.Ala63fs) rs2113906336
NM_004387.4(NKX2-5):c.168C>G (p.Tyr56Ter)
NM_004387.4(NKX2-5):c.175C>G (p.Pro59Ala) rs387906775
NM_004387.4(NKX2-5):c.182C>G (p.Ala61Gly) rs864321650
NM_004387.4(NKX2-5):c.212del (p.Ala71fs) rs2113906234
NM_004387.4(NKX2-5):c.215_221del (p.Glu72fs) rs606231358
NM_004387.4(NKX2-5):c.228_229del (p.Pro77fs) rs606231359
NM_004387.4(NKX2-5):c.230del (p.Pro77fs) rs2113906167
NM_004387.4(NKX2-5):c.246dup (p.Ala83fs) rs1761434175
NM_004387.4(NKX2-5):c.253_256dup (p.Phe86fs) rs2113906022
NM_004387.4(NKX2-5):c.261del (p.Ala88fs) rs2113906009
NM_004387.4(NKX2-5):c.262del (p.Ala88fs) rs606231360
NM_004387.4(NKX2-5):c.270del (p.Ala91fs) rs2113905948
NM_004387.4(NKX2-5):c.270dup (p.Ala91fs) rs2113905948
NM_004387.4(NKX2-5):c.279T>A (p.Tyr93Ter)
NM_004387.4(NKX2-5):c.281del (p.Pro94fs) rs2113905914
NM_004387.4(NKX2-5):c.291C>A (p.Tyr97Ter)
NM_004387.4(NKX2-5):c.310A>T (p.Lys104Ter) rs1761430125
NM_004387.4(NKX2-5):c.314_321del (p.Asp105fs)
NM_004387.4(NKX2-5):c.328A>T (p.Lys110Ter)
NM_004387.4(NKX2-5):c.335-1G>T rs864321645
NM_004387.4(NKX2-5):c.340_341del (p.Cys114fs) rs2113902320
NM_004387.4(NKX2-5):c.340_341dup (p.Leu116fs) rs2113902320
NM_004387.4(NKX2-5):c.342C>A (p.Cys114Ter)
NM_004387.4(NKX2-5):c.375dup (p.Glu126fs) rs1561619801
NM_004387.4(NKX2-5):c.377_378del (p.Glu126fs) rs2113902216
NM_004387.4(NKX2-5):c.380C>A (p.Ala127Glu) rs387906774
NM_004387.4(NKX2-5):c.391G>A (p.Glu131Lys) rs864321648
NM_004387.4(NKX2-5):c.417del (p.Lys140fs)
NM_004387.4(NKX2-5):c.423dup (p.Arg142fs) rs2113902012
NM_004387.4(NKX2-5):c.434dup (p.Ser146fs) rs2113901953
NM_004387.4(NKX2-5):c.437C>A (p.Ser146Ter) rs397516909
NM_004387.4(NKX2-5):c.439del (p.Gln147fs) rs1761360431
NM_004387.4(NKX2-5):c.443C>A (p.Ala148Glu) rs864321649
NM_004387.4(NKX2-5):c.44A>T (p.Lys15Ile) rs387906773
NM_004387.4(NKX2-5):c.461A>G (p.Glu154Gly) rs587782928
NM_004387.4(NKX2-5):c.462del (p.Glu154fs) rs2113901862
NM_004387.4(NKX2-5):c.486C>A (p.Tyr162Ter) rs1456289029
NM_004387.4(NKX2-5):c.487del (p.Leu163fs)
NM_004387.4(NKX2-5):c.491C>A (p.Ser164Ter) rs1554093487
NM_004387.4(NKX2-5):c.508C>T (p.Gln170Ter) rs104893901
NM_004387.4(NKX2-5):c.512T>C (p.Leu171Pro) rs797045791
NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met) rs104893900
NM_004387.4(NKX2-5):c.542dup (p.Val182fs)
NM_004387.4(NKX2-5):c.543G>C (p.Gln181His) rs72554028
NM_004387.4(NKX2-5):c.554G>A (p.Trp185Ter)
NM_004387.4(NKX2-5):c.568C>T (p.Arg190Cys) rs104893906
NM_004387.4(NKX2-5):c.572A>G (p.Tyr191Cys)
NM_004387.4(NKX2-5):c.585del (p.Gln196fs) rs2113901553
NM_004387.4(NKX2-5):c.592C>T (p.Gln198Ter) rs104893903
NM_004387.4(NKX2-5):c.598_599del (p.Gln200fs) rs2113901504
NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs) rs1554093461
NM_004387.4(NKX2-5):c.618del (p.Leu207fs) rs587782929
NM_004387.4(NKX2-5):c.625_646del (p.Pro209fs)
NM_004387.4(NKX2-5):c.629_648del (p.Pro210fs)
NM_004387.4(NKX2-5):c.646C>T (p.Arg216Cys) rs104893905
NM_004387.4(NKX2-5):c.646del (p.Arg216fs)
NM_004387.4(NKX2-5):c.693_700del (p.Asp233fs)
NM_004387.4(NKX2-5):c.694_710dup (p.Tyr237Ter)
NM_004387.4(NKX2-5):c.701C>A (p.Ser234Ter) rs773922431
NM_004387.4(NKX2-5):c.711C>A (p.Tyr237Ter) rs1554093433
NM_004387.4(NKX2-5):c.721_728del (p.Tyr241fs) rs587782930
NM_004387.4(NKX2-5):c.744C>A (p.Tyr248Ter) rs758539727
NM_004387.4(NKX2-5):c.747_748dup (p.Tyr250fs)
NM_004387.4(NKX2-5):c.768T>A (p.Tyr256Ter) rs104893907
NM_004387.4(NKX2-5):c.768T>G (p.Tyr256Ter) rs104893907
NM_004387.4(NKX2-5):c.769C>G (p.Pro257Ala) rs387906776
NM_004387.4(NKX2-5):c.778_784dup (p.Ala262fs) rs2113901025
NM_004387.4(NKX2-5):c.865AAC[2] (p.Asn291del) rs756974215
NM_004387.4(NKX2-5):c.896A>G (p.Asp299Gly) rs137852683
NM_004409.4(DMPK):c.*224CTG[146]
NM_004409.4(DMPK):c.*224CTG[1502]
NM_004409.4(DMPK):c.*224CTG[1681]
NM_004409.4:c.*224_*283CTG[(192_602)]CCG[1]CTG[8]CCG[2]CTG[2]CCG[1]CTG[4]CCG[1]CTG[30]
NM_004409.4:c.*224_*283CTG[(271_852)]CCG[1]CTG[17]CCG[1]CTG[29]
NM_004409.4:c.*224_*283CTG[(510_860)]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[2]CCG[3]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[18]
NM_004409.4:c.*224_*283CTG[329]NNN[(?)]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[1]CCG[1]CTG[4]CCG[1]CTG[1]CCG[1]CTG[18]
NM_004409.5(DMPK):c.*224CTG[100]
NM_004409.5(DMPK):c.*224CTG[102]
NM_004409.5(DMPK):c.*224CTG[103]
NM_004409.5(DMPK):c.*224CTG[105]
NM_004409.5(DMPK):c.*224CTG[107]
NM_004409.5(DMPK):c.*224CTG[1080]
NM_004409.5(DMPK):c.*224CTG[110]
NM_004409.5(DMPK):c.*224CTG[1140]
NM_004409.5(DMPK):c.*224CTG[1142]
NM_004409.5(DMPK):c.*224CTG[117]
NM_004409.5(DMPK):c.*224CTG[1189]
NM_004409.5(DMPK):c.*224CTG[122]
NM_004409.5(DMPK):c.*224CTG[1236]
NM_004409.5(DMPK):c.*224CTG[123]
NM_004409.5(DMPK):c.*224CTG[124]
NM_004409.5(DMPK):c.*224CTG[127]
NM_004409.5(DMPK):c.*224CTG[130]
NM_004409.5(DMPK):c.*224CTG[131]
NM_004409.5(DMPK):c.*224CTG[132]
NM_004409.5(DMPK):c.*224CTG[134]
NM_004409.5(DMPK):c.*224CTG[135]
NM_004409.5(DMPK):c.*224CTG[142]
NM_004409.5(DMPK):c.*224CTG[158]
NM_004409.5(DMPK):c.*224CTG[160]
NM_004409.5(DMPK):c.*224CTG[168]
NM_004409.5(DMPK):c.*224CTG[169]
NM_004409.5(DMPK):c.*224CTG[175]
NM_004409.5(DMPK):c.*224CTG[180]
NM_004409.5(DMPK):c.*224CTG[181]
NM_004409.5(DMPK):c.*224CTG[182]
NM_004409.5(DMPK):c.*224CTG[194]
NM_004409.5(DMPK):c.*224CTG[195]
NM_004409.5(DMPK):c.*224CTG[197]
NM_004409.5(DMPK):c.*224CTG[214]
NM_004409.5(DMPK):c.*224CTG[216]
NM_004409.5(DMPK):c.*224CTG[225]
NM_004409.5(DMPK):c.*224CTG[229]
NM_004409.5(DMPK):c.*224CTG[230]
NM_004409.5(DMPK):c.*224CTG[232]
NM_004409.5(DMPK):c.*224CTG[235]
NM_004409.5(DMPK):c.*224CTG[236]
NM_004409.5(DMPK):c.*224CTG[238]
NM_004409.5(DMPK):c.*224CTG[241]
NM_004409.5(DMPK):c.*224CTG[255]
NM_004409.5(DMPK):c.*224CTG[256]
NM_004409.5(DMPK):c.*224CTG[260]
NM_004409.5(DMPK):c.*224CTG[261]
NM_004409.5(DMPK):c.*224CTG[264]
NM_004409.5(DMPK):c.*224CTG[265]
NM_004409.5(DMPK):c.*224CTG[271]
NM_004409.5(DMPK):c.*224CTG[280]
NM_004409.5(DMPK):c.*224CTG[281]
NM_004409.5(DMPK):c.*224CTG[288]
NM_004409.5(DMPK):c.*224CTG[303]
NM_004409.5(DMPK):c.*224CTG[307]
NM_004409.5(DMPK):c.*224CTG[313]
NM_004409.5(DMPK):c.*224CTG[318]
NM_004409.5(DMPK):c.*224CTG[31]
NM_004409.5(DMPK):c.*224CTG[327]
NM_004409.5(DMPK):c.*224CTG[32]
NM_004409.5(DMPK):c.*224CTG[330]
NM_004409.5(DMPK):c.*224CTG[333]
NM_004409.5(DMPK):c.*224CTG[339]
NM_004409.5(DMPK):c.*224CTG[33]
NM_004409.5(DMPK):c.*224CTG[345]
NM_004409.5(DMPK):c.*224CTG[347]
NM_004409.5(DMPK):c.*224CTG[34]
NM_004409.5(DMPK):c.*224CTG[351]
NM_004409.5(DMPK):c.*224CTG[352]
NM_004409.5(DMPK):c.*224CTG[353]
NM_004409.5(DMPK):c.*224CTG[354]
NM_004409.5(DMPK):c.*224CTG[35]
NM_004409.5(DMPK):c.*224CTG[364]
NM_004409.5(DMPK):c.*224CTG[36]
NM_004409.5(DMPK):c.*224CTG[371]
NM_004409.5(DMPK):c.*224CTG[372]
NM_004409.5(DMPK):c.*224CTG[373]
NM_004409.5(DMPK):c.*224CTG[375]
NM_004409.5(DMPK):c.*224CTG[376]
NM_004409.5(DMPK):c.*224CTG[377]
NM_004409.5(DMPK):c.*224CTG[37]
NM_004409.5(DMPK):c.*224CTG[383]
NM_004409.5(DMPK):c.*224CTG[38]
NM_004409.5(DMPK):c.*224CTG[391]
NM_004409.5(DMPK):c.*224CTG[395]
NM_004409.5(DMPK):c.*224CTG[397]
NM_004409.5(DMPK):c.*224CTG[398]
NM_004409.5(DMPK):c.*224CTG[39]
NM_004409.5(DMPK):c.*224CTG[407]
NM_004409.5(DMPK):c.*224CTG[40]
NM_004409.5(DMPK):c.*224CTG[41]
NM_004409.5(DMPK):c.*224CTG[421]
NM_004409.5(DMPK):c.*224CTG[42]
NM_004409.5(DMPK):c.*224CTG[435]
NM_004409.5(DMPK):c.*224CTG[436]
NM_004409.5(DMPK):c.*224CTG[437]
NM_004409.5(DMPK):c.*224CTG[43]
NM_004409.5(DMPK):c.*224CTG[440]
NM_004409.5(DMPK):c.*224CTG[448]
NM_004409.5(DMPK):c.*224CTG[449]
NM_004409.5(DMPK):c.*224CTG[44]
NM_004409.5(DMPK):c.*224CTG[455]
NM_004409.5(DMPK):c.*224CTG[45]
NM_004409.5(DMPK):c.*224CTG[461]
NM_004409.5(DMPK):c.*224CTG[462]
NM_004409.5(DMPK):c.*224CTG[46]
NM_004409.5(DMPK):c.*224CTG[47]
NM_004409.5(DMPK):c.*224CTG[482]
NM_004409.5(DMPK):c.*224CTG[490]
NM_004409.5(DMPK):c.*224CTG[496]
NM_004409.5(DMPK):c.*224CTG[49]
NM_004409.5(DMPK):c.*224CTG[501]
NM_004409.5(DMPK):c.*224CTG[505]
NM_004409.5(DMPK):c.*224CTG[508]
NM_004409.5(DMPK):c.*224CTG[50]
NM_004409.5(DMPK):c.*224CTG[513]
NM_004409.5(DMPK):c.*224CTG[51]
NM_004409.5(DMPK):c.*224CTG[52]
NM_004409.5(DMPK):c.*224CTG[536]
NM_004409.5(DMPK):c.*224CTG[539]
NM_004409.5(DMPK):c.*224CTG[53]
NM_004409.5(DMPK):c.*224CTG[541]
NM_004409.5(DMPK):c.*224CTG[542]
NM_004409.5(DMPK):c.*224CTG[54]
NM_004409.5(DMPK):c.*224CTG[55]
NM_004409.5(DMPK):c.*224CTG[562]
NM_004409.5(DMPK):c.*224CTG[563]
NM_004409.5(DMPK):c.*224CTG[56]
NM_004409.5(DMPK):c.*224CTG[57]
NM_004409.5(DMPK):c.*224CTG[583]
NM_004409.5(DMPK):c.*224CTG[586]
NM_004409.5(DMPK):c.*224CTG[58]
NM_004409.5(DMPK):c.*224CTG[593]
NM_004409.5(DMPK):c.*224CTG[594]
NM_004409.5(DMPK):c.*224CTG[597]
NM_004409.5(DMPK):c.*224CTG[59]
NM_004409.5(DMPK):c.*224CTG[609]
NM_004409.5(DMPK):c.*224CTG[60]
NM_004409.5(DMPK):c.*224CTG[614]
NM_004409.5(DMPK):c.*224CTG[61]
NM_004409.5(DMPK):c.*224CTG[62]
NM_004409.5(DMPK):c.*224CTG[640]
NM_004409.5(DMPK):c.*224CTG[64]
NM_004409.5(DMPK):c.*224CTG[65]
NM_004409.5(DMPK):c.*224CTG[666]
NM_004409.5(DMPK):c.*224CTG[688]
NM_004409.5(DMPK):c.*224CTG[68]
NM_004409.5(DMPK):c.*224CTG[69]
NM_004409.5(DMPK):c.*224CTG[71]
NM_004409.5(DMPK):c.*224CTG[721]
NM_004409.5(DMPK):c.*224CTG[72]
NM_004409.5(DMPK):c.*224CTG[73]
NM_004409.5(DMPK):c.*224CTG[74]
NM_004409.5(DMPK):c.*224CTG[758]
NM_004409.5(DMPK):c.*224CTG[75]
NM_004409.5(DMPK):c.*224CTG[76]
NM_004409.5(DMPK):c.*224CTG[780]
NM_004409.5(DMPK):c.*224CTG[80]
NM_004409.5(DMPK):c.*224CTG[814]
NM_004409.5(DMPK):c.*224CTG[816]
NM_004409.5(DMPK):c.*224CTG[823]
NM_004409.5(DMPK):c.*224CTG[82]
NM_004409.5(DMPK):c.*224CTG[83]
NM_004409.5(DMPK):c.*224CTG[84]
NM_004409.5(DMPK):c.*224CTG[86]
NM_004409.5(DMPK):c.*224CTG[887]
NM_004409.5(DMPK):c.*224CTG[88]
NM_004409.5(DMPK):c.*224CTG[90]
NM_004409.5(DMPK):c.*224CTG[92]
NM_004409.5(DMPK):c.*224CTG[93]
NM_004409.5(DMPK):c.*224CTG[96]
NM_004409.5(DMPK):c.*224CTG[98]
NM_004415.2(DSP):c.2131_2132del rs587782927
NM_004415.2(DSP):c.5671_*1792delinsAGAGAAGAACAGTCTT
NM_004415.4(DSP):c.1003del (p.Gln335fs) rs2113671104
NM_004415.4(DSP):c.1009_1010dup (p.Leu338fs) rs2113671123
NM_004415.4(DSP):c.1042G>T (p.Glu348Ter)
NM_004415.4(DSP):c.1054_1059delinsCA (p.Asp352fs) rs1064793435
NM_004415.4(DSP):c.1060_1061del (p.Leu354fs) rs1249913357
NM_004415.4(DSP):c.1080G>A (p.Trp360Ter) rs2113672480
NM_004415.4(DSP):c.1087C>T (p.Gln363Ter) rs778856526
NM_004415.4(DSP):c.1099_1100del (p.Cys367fs) rs2113672514
NM_004415.4(DSP):c.1119del (p.Glu374fs)
NM_004415.4(DSP):c.1146del (p.Phe382fs) rs397516913
NM_004415.4(DSP):c.1162del (p.Thr388fs) rs1554106742
NM_004415.4(DSP):c.1182del (p.Leu395fs) rs1554106743
NM_004415.4(DSP):c.1186del (p.Gln396fs) rs2113673178
NM_004415.4(DSP):c.1209C>A (p.Tyr403Ter) rs2113673248
NM_004415.4(DSP):c.1209C>G (p.Tyr403Ter)
NM_004415.4(DSP):c.1215C>A (p.Cys405Ter)
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter) rs1758912749
NM_004415.4(DSP):c.123C>G (p.Tyr41Ter) rs1057523045
NM_004415.4(DSP):c.1249C>T (p.Gln417Ter)
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1276G>T (p.Glu426Ter)
NM_004415.4(DSP):c.1282dup (p.Ile428fs) rs1561687796
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter) rs761380979
NM_004415.4(DSP):c.1293del (p.Glu430_Tyr431insTer) rs2113674180
NM_004415.4(DSP):c.1339C>T (p.Gln447Ter) rs2113674300
NM_004415.4(DSP):c.1351C>G (p.Arg451Gly) rs1057518309
NM_004415.4(DSP):c.1386_1389del (p.Leu463fs)
NM_004415.4(DSP):c.1386del (p.Leu463fs) rs1758933837
NM_004415.4(DSP):c.1411_1412insT (p.Gln471fs) rs1581802715
NM_004415.4(DSP):c.1438dup (p.Asp480fs)
NM_004415.4(DSP):c.1439del (p.Asp480fs) rs2113675360
NM_004415.4(DSP):c.1441G>T (p.Glu481Ter)
NM_004415.4(DSP):c.1445_1446del (p.Cys482fs)
NM_004415.4(DSP):c.1479G>A (p.Trp493Ter) rs1758962311
NM_004415.4(DSP):c.1523_1524del (p.Val508fs)
NM_004415.4(DSP):c.1582del (p.Gln528fs) rs2113677263
NM_004415.4(DSP):c.1609_1610del (p.Trp537fs)
NM_004415.4(DSP):c.1611G>A (p.Trp537Ter) rs794728114
NM_004415.4(DSP):c.1656C>G (p.Tyr552Ter) rs1759011966
NM_004415.4(DSP):c.1680del (p.Arg561fs)
NM_004415.4(DSP):c.1691C>T (p.Thr564Ile) rs606231295
NM_004415.4(DSP):c.1708del (p.Thr570fs)
NM_004415.4(DSP):c.1710_1711del (p.Met571fs) rs2113678808
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.1783C>T (p.Gln595Ter)
NM_004415.4(DSP):c.1789T>C (p.Ser597Pro)
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter) rs1561690319
NM_004415.4(DSP):c.1831C>T (p.Gln611Ter) rs1581805788
NM_004415.4(DSP):c.1846C>T (p.Gln616Ter)
NM_004415.4(DSP):c.1857C>A (p.Tyr619Ter) rs1554107097
NM_004415.4(DSP):c.1873C>T (p.Gln625Ter) rs876657638
NM_004415.4(DSP):c.1883del (p.Gly628fs) rs1060500613
NM_004415.4(DSP):c.1897C>T (p.Gln633Ter) rs1464886350
NM_004415.4(DSP):c.1941dup (p.Asp648fs) rs2113679761
NM_004415.4(DSP):c.1978_1979del (p.Glu660fs)
NM_004415.4(DSP):c.2000G>A (p.Trp667Ter) rs760214732
NM_004415.4(DSP):c.2011G>T (p.Glu671Ter) rs2113679972
NM_004415.4(DSP):c.2060del (p.Thr687fs) rs2113680129
NM_004415.4(DSP):c.2068_2069del (p.Asn690fs)
NM_004415.4(DSP):c.2086del (p.Gln696fs)
NM_004415.4(DSP):c.2149del (p.Gln717fs) rs2113682999
NM_004415.4(DSP):c.214C>T (p.Gln72Ter) rs397516923
NM_004415.4(DSP):c.2166del (p.Leu723fs)
NM_004415.4(DSP):c.2179A>T (p.Lys727Ter)
NM_004415.4(DSP):c.2181dup (p.Asp728fs)
NM_004415.4(DSP):c.2185_2186del (p.Met729fs)
NM_004415.4(DSP):c.2185dup (p.Met729fs) rs2113683109
NM_004415.4(DSP):c.2223T>G (p.Tyr741Ter) rs2113683217
NM_004415.4(DSP):c.2227C>T (p.Gln743Ter)
NM_004415.4(DSP):c.2236del (p.Val746fs) rs1759155407
NM_004415.4(DSP):c.2276_2277insA (p.Thr760fs)
NM_004415.4(DSP):c.2278dup (p.Thr760fs)
NM_004415.4(DSP):c.2311del (p.Arg771fs)
NM_004415.4(DSP):c.2323C>T (p.Gln775Ter) rs1581809567
NM_004415.4(DSP):c.2351T>A (p.Leu784Ter) rs2113684096
NM_004415.4(DSP):c.2390_2393del (p.Val797fs) rs754566092
NM_004415.4(DSP):c.247_248del (p.Met83fs)
NM_004415.4(DSP):c.2497C>T (p.Gln833Ter) rs1561693779
NM_004415.4(DSP):c.2498dup (p.Lys834fs) rs1759204244
NM_004415.4(DSP):c.250C>T (p.Arg84Ter) rs768521444
NM_004415.4(DSP):c.2521C>T (p.Gln841Ter)
NM_004415.4(DSP):c.2528C>A (p.Ser843Ter) rs1057518920
NM_004415.4(DSP):c.2528C>G (p.Ser843Ter)
NM_004415.4(DSP):c.2530C>T (p.Gln844Ter)
NM_004415.4(DSP):c.2533C>T (p.Gln845Ter) rs2113685159
NM_004415.4(DSP):c.2538T>A (p.Tyr846Ter)
NM_004415.4(DSP):c.2602C>T (p.Gln868Ter) rs1060500618
NM_004415.4(DSP):c.2616dup (p.Gln873fs)
NM_004415.4(DSP):c.2617C>T (p.Gln873Ter) rs794728118
NM_004415.4(DSP):c.2637G>A (p.Trp879Ter) rs2113686447
NM_004415.4(DSP):c.2644G>T (p.Glu882Ter) rs730880081
NM_004415.4(DSP):c.2650C>T (p.Gln884Ter) rs2113686466
NM_004415.4(DSP):c.2652_2653del (p.Gln884fs)
NM_004415.4(DSP):c.2655del (p.Lys886fs) rs2113686478
NM_004415.4(DSP):c.2703G>A (p.Trp901Ter)
NM_004415.4(DSP):c.2706_2707del (p.Leu902_Tyr903insTer) rs1759240256
NM_004415.4(DSP):c.2725C>T (p.Gln909Ter) rs1561694696
NM_004415.4(DSP):c.2735dup (p.Leu912fs)
NM_004415.4(DSP):c.2770_2771dup (p.Met924fs)
NM_004415.4(DSP):c.2784_2785del (p.Asn928fs)
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.2832del (p.Glu945fs) rs2113687612
NM_004415.4(DSP):c.2834_2835del (p.Glu945fs) rs2113687617
NM_004415.4(DSP):c.2842del (p.Gln948fs)
NM_004415.4(DSP):c.2847_2848delinsT (p.Lys949fs)
NM_004415.4(DSP):c.2848del (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2848dup (p.Ile950fs) rs397516927
NM_004415.4(DSP):c.2870_2874del (p.Asn956_Ser957insTer) rs794728139
NM_004415.4(DSP):c.2890C>T (p.Gln964Ter) rs2113688859
NM_004415.4(DSP):c.2903dup (p.Tyr968Ter) rs2113688911
NM_004415.4(DSP):c.2917G>T (p.Glu973Ter)
NM_004415.4(DSP):c.2923_2924del (p.Leu975fs)
NM_004415.4(DSP):c.292G>T (p.Gly98Ter)
NM_004415.4(DSP):c.2947_2948del (p.Thr983fs) rs1554107839
NM_004415.4(DSP):c.2980dup (p.Gln994fs) rs1581813564
NM_004415.4(DSP):c.3018dup (p.Leu1007fs)
NM_004415.4(DSP):c.3044_3047dup (p.Phe1016fs) rs1554107916
NM_004415.4(DSP):c.3045del (p.Arg1015fs) rs1409693501
NM_004415.4(DSP):c.3064_3065del (p.Lys1022fs)
NM_004415.4(DSP):c.3094del (p.Thr1032fs) rs2113690997
NM_004415.4(DSP):c.3110del (p.Leu1037fs)
NM_004415.4(DSP):c.3126del (p.Arg1042fs)
NM_004415.4(DSP):c.3133C>T (p.Arg1045Ter) rs1554108012
NM_004415.4(DSP):c.313C>T (p.Arg105Ter) rs1435125402
NM_004415.4(DSP):c.3160_3169del (p.Lys1054fs) rs397516932
NM_004415.4(DSP):c.3192dup (p.Tyr1065fs) rs778930865
NM_004415.4(DSP):c.3195C>G (p.Tyr1065Ter) rs886039178
NM_004415.4(DSP):c.3203_3204del (p.Glu1068fs)
NM_004415.4(DSP):c.320T>A (p.Leu107Ter) rs2113657559
NM_004415.4(DSP):c.3211C>T (p.Gln1071Ter)
NM_004415.4(DSP):c.3241G>T (p.Glu1081Ter) rs1554108050
NM_004415.4(DSP):c.3253C>T (p.Gln1085Ter) rs1759345923
NM_004415.4(DSP):c.3290_3291dup (p.Asp1098Ter) rs1561697181
NM_004415.4(DSP):c.329_330delinsAA (p.Cys110Ter) rs1561680649
NM_004415.4(DSP):c.330_334del (p.Phe111fs) rs1581792793
NM_004415.4(DSP):c.3316G>T (p.Glu1106Ter) rs1131691673
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.3338del (p.Arg1113fs) rs2113691528
NM_004415.4(DSP):c.3346del (p.Tyr1116fs) rs2113691557
NM_004415.4(DSP):c.3348T>A (p.Tyr1116Ter) rs772646601
NM_004415.4(DSP):c.3415_3417delinsG (p.Tyr1139fs) rs1064794616
NM_004415.4(DSP):c.3439C>T (p.Gln1147Ter) rs2113691766
NM_004415.4(DSP):c.3444T>A (p.Cys1148Ter)
NM_004415.4(DSP):c.3449del (p.Lys1150fs) rs2113691774
NM_004415.4(DSP):c.3465G>A (p.Trp1155Ter) rs1759354150
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter) rs1581815654
NM_004415.4(DSP):c.3474dup (p.Glu1159fs) rs727503000
NM_004415.4(DSP):c.3494dup (p.Glu1166fs) rs2113691887
NM_004415.4(DSP):c.3517del (p.Arg1173fs)
NM_004415.4(DSP):c.3526del (p.Val1176fs) rs727505271
NM_004415.4(DSP):c.3529del (p.Leu1177fs)
NM_004415.4(DSP):c.3535C>T (p.Gln1179Ter) rs1759357763
NM_004415.4(DSP):c.3541G>T (p.Glu1181Ter)
NM_004415.4(DSP):c.3564T>A (p.Tyr1188Ter) rs2113692122
NM_004415.4(DSP):c.3571G>T (p.Glu1191Ter) rs1759359916
NM_004415.4(DSP):c.3578_3579insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAATGAGCTGGC (p.Ala1193_Lys1194insAlaGlyArgGlyGlySerArgLeuTer) rs2113692133
NM_004415.4(DSP):c.3608_3609insAC (p.Met1203fs) rs2113692208
NM_004415.4(DSP):c.3630T>A (p.Tyr1210Ter) rs727503001
NM_004415.4(DSP):c.3639_3640del (p.Glu1213fs) rs2113692271
NM_004415.4(DSP):c.3733del (p.Glu1245fs) rs794728142
NM_004415.4(DSP):c.3735_3741dup (p.Asp1248fs) rs1554108152
NM_004415.4(DSP):c.3739C>T (p.Arg1247Ter) rs1413961070
NM_004415.4(DSP):c.3757del (p.Ile1253fs) rs2113692562
NM_004415.4(DSP):c.3784C>T (p.Gln1262Ter) rs2113692628
NM_004415.4(DSP):c.3793G>T (p.Glu1265Ter) rs1554108172
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter) rs121912997
NM_004415.4(DSP):c.3826C>T (p.Gln1276Ter)
NM_004415.4(DSP):c.3829C>T (p.Gln1277Ter) rs397516933
NM_004415.4(DSP):c.384dup (p.Arg129fs)
NM_004415.4(DSP):c.3850del (p.Glu1283_Ile1284insTer)
NM_004415.4(DSP):c.3856C>T (p.Gln1286Ter)
NM_004415.4(DSP):c.3858_3859insGG (p.Lys1287fs)
NM_004415.4(DSP):c.3909_3921del (p.Glu1304fs)
NM_004415.4(DSP):c.3928A>T (p.Lys1310Ter)
NM_004415.4(DSP):c.3991_3995del (p.Leu1330_Lys1331insTer)
NM_004415.4(DSP):c.4003C>T (p.Gln1335Ter) rs879255521
NM_004415.4(DSP):c.4009del (p.Glu1337fs) rs794727381
NM_004415.4(DSP):c.4037_4041del (p.Asn1346fs) rs1561698362
NM_004415.4(DSP):c.4044_4047del (p.Ser1349fs)
NM_004415.4(DSP):c.4076_4106del (p.Ile1359fs)
NM_004415.4(DSP):c.4085T>A (p.Leu1362Ter) rs1759383581
NM_004415.4(DSP):c.4113_4114insCAAG (p.Ile1372fs)
NM_004415.4(DSP):c.4153_4156del (p.Glu1385fs) rs1759385935
NM_004415.4(DSP):c.415del (p.Gln139fs)
NM_004415.4(DSP):c.4180C>T (p.Gln1394Ter) rs140474226
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_004415.4(DSP):c.4201G>T (p.Glu1401Ter) rs774065012
NM_004415.4(DSP):c.4229dup (p.Arg1411fs)
NM_004415.4(DSP):c.4245_4254del (p.Leu1416fs)
NM_004415.4(DSP):c.4252C>T (p.Gln1418Ter)
NM_004415.4(DSP):c.4305_4311del (p.Thr1436fs) rs2113693785
NM_004415.4(DSP):c.4337_4338insTGCT (p.Gln1446fs) rs2113693861
NM_004415.4(DSP):c.4357C>T (p.Gln1453Ter) rs1561698750
NM_004415.4(DSP):c.4372C>T (p.Arg1458Ter) rs28763965
NM_004415.4(DSP):c.4384_4387del (p.Glu1461_Ser1462insTer) rs1759396933
NM_004415.4(DSP):c.4388dup (p.Arg1464fs)
NM_004415.4(DSP):c.4395T>G (p.Tyr1465Ter) rs1236464864
NM_004415.4(DSP):c.4411dup (p.Asp1471fs)
NM_004415.4(DSP):c.4423del (p.Thr1475fs) rs1227662860
NM_004415.4(DSP):c.4434_4464dup (p.Leu1489Ter) rs2113694068
NM_004415.4(DSP):c.4434dup (p.Lys1479Ter) rs2113694076
NM_004415.4(DSP):c.4451_4454del (p.Glu1484fs)
NM_004415.4(DSP):c.4462C>T (p.Gln1488Ter)
NM_004415.4(DSP):c.4477_4480del (p.Glu1493fs)
NM_004415.4(DSP):c.448C>T (p.Arg150Ter) rs2113659637
NM_004415.4(DSP):c.4491del (p.Lys1498fs)
NM_004415.4(DSP):c.4536T>A (p.Tyr1512Ter)
NM_004415.4(DSP):c.4552_4553del (p.Asn1518fs)
NM_004415.4(DSP):c.4574_4575dup (p.Asn1526Ter) rs2113694437
NM_004415.4(DSP):c.4579_4582del (p.Asn1526_Lys1527insTer) rs2113694449
NM_004415.4(DSP):c.4608dup (p.Arg1537fs)
NM_004415.4(DSP):c.465del (p.Ile156fs) rs1554105911
NM_004415.4(DSP):c.4687_4688del (p.Leu1563fs) rs2113694673
NM_004415.4(DSP):c.4699C>T (p.Gln1567Ter) rs2113694704
NM_004415.4(DSP):c.4751_4752del (p.Ala1584fs) rs2113694794
NM_004415.4(DSP):c.4751del (p.Ala1584fs)
NM_004415.4(DSP):c.4753_4759del (p.Ser1585fs) rs2113694822
NM_004415.4(DSP):c.4789G>T (p.Glu1597Ter) rs1259613160
NM_004415.4(DSP):c.478C>T (p.Arg160Ter) rs397516943
NM_004415.4(DSP):c.4797del (p.Gly1600fs) rs1759417776
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.4(DSP):c.4875del (p.Lys1626fs)
NM_004415.4(DSP):c.4876_4880del (p.Lys1626fs) rs1759421816
NM_004415.4(DSP):c.4879_4883del (p.Lys1627fs)
NM_004415.4(DSP):c.4882_4886delinsTCTT (p.Arg1628fs)
NM_004415.4(DSP):c.4882del (p.Arg1628fs) rs2113695145
NM_004415.4(DSP):c.4902del (p.Gln1635fs)
NM_004415.4(DSP):c.490_491insAGCTCGAGTCCCT (p.Ala164fs) rs1758603690
NM_004415.4(DSP):c.4941del (p.Lys1647fs)
NM_004415.4(DSP):c.4951C>T (p.Gln1651Ter)
NM_004415.4(DSP):c.4954dup (p.Glu1652fs)
NM_004415.4(DSP):c.4974_4975del (p.Ser1658_Ser1659insTer) rs1759426108
NM_004415.4(DSP):c.4999C>T (p.Gln1667Ter) rs1554108431
NM_004415.4(DSP):c.5004dup (p.Leu1669fs) rs2113695398
NM_004415.4(DSP):c.5011del (p.Glu1671fs)
NM_004415.4(DSP):c.5014C>T (p.Gln1672Ter) rs786205416
NM_004415.4(DSP):c.5020dup (p.Ser1674fs) rs2113695431
NM_004415.4(DSP):c.5028_5031del (p.Gln1677fs)
NM_004415.4(DSP):c.5063_5072del (p.Ala1688fs) rs2113695514
NM_004415.4(DSP):c.5120_5123del (p.Gln1707fs)
NM_004415.4(DSP):c.5126_5127del (p.Leu1709fs)
NM_004415.4(DSP):c.5133_5134insC (p.Asn1712fs)
NM_004415.4(DSP):c.5146del (p.Glu1716fs)
NM_004415.4(DSP):c.5154del (p.Met1719fs)
NM_004415.4(DSP):c.5210del (p.Gly1737fs) rs1581819043
NM_004415.4(DSP):c.5212C>T (p.Arg1738Ter) rs794728124
NM_004415.4(DSP):c.522T>A (p.Cys174Ter) rs144781697
NM_004415.4(DSP):c.523C>T (p.Gln175Ter) rs1581794029
NM_004415.4(DSP):c.5262_5266dup (p.Leu1756fs)
NM_004415.4(DSP):c.5269C>T (p.Gln1757Ter) rs1554108477
NM_004415.4(DSP):c.5299C>T (p.Gln1767Ter)
NM_004415.4(DSP):c.5303_5304dup (p.Leu1769fs)
NM_004415.4(DSP):c.5318del (p.Leu1773fs) rs2113696088
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004415.4(DSP):c.5329_5330del (p.Arg1777fs)
NM_004415.4(DSP):c.5380-1G>A rs1759474600
NM_004415.4(DSP):c.5389dup (p.Arg1797fs) rs1759475221
NM_004415.4(DSP):c.5428C>T (p.Gln1810Ter) rs397516946
NM_004415.4(DSP):c.5431G>T (p.Glu1811Ter) rs2113697854
NM_004415.4(DSP):c.5438_5441del (p.Glu1813fs)
NM_004415.4(DSP):c.5440_5441del (p.Ser1814fs)
NM_004415.4(DSP):c.5460_5466del (p.Val1821fs) rs1554108610
NM_004415.4(DSP):c.5460_5472del (p.Val1821fs) rs1759478436
NM_004415.4(DSP):c.5460dup (p.Val1821fs) rs1554108609
NM_004415.4(DSP):c.5462del (p.Val1821fs) rs2113697914
NM_004415.4(DSP):c.5542del (p.Arg1848fs) rs1759482084
NM_004415.4(DSP):c.5550_5557delinsGTG (p.Gln1851fs) rs1554108621
NM_004415.4(DSP):c.5551C>T (p.Gln1851Ter)
NM_004415.4(DSP):c.5648C>A (p.Ser1883Ter)
NM_004415.4(DSP):c.5656_5657del (p.Glu1886fs) rs1759489185
NM_004415.4(DSP):c.5664_5667del (p.Ser1888fs) rs1759489644
NM_004415.4(DSP):c.5671_5674del (p.Glu1891fs) rs1487814687
NM_004415.4(DSP):c.5673_5674del (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5673_5674dup (p.Lys1892fs) rs1487814687
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.5731G>T (p.Glu1911Ter)
NM_004415.4(DSP):c.573_576del (p.Cys191fs)
NM_004415.4(DSP):c.5745dup (p.Lys1916Ter) rs1060500607
NM_004415.4(DSP):c.5773C>T (p.Gln1925Ter) rs2113698710
NM_004415.4(DSP):c.5773_5774del (p.Gln1925fs) rs1561701401
NM_004415.4(DSP):c.5779C>T (p.Gln1927Ter)
NM_004415.4(DSP):c.5782_5785del (p.Leu1928fs)
NM_004415.4(DSP):c.5800C>T (p.Arg1934Ter) rs121912996
NM_004415.4(DSP):c.5806C>T (p.Gln1936Ter) rs2113698797
NM_004415.4(DSP):c.582G>A (p.Trp194Ter)
NM_004415.4(DSP):c.5830C>T (p.Gln1944Ter) rs2113698863
NM_004415.4(DSP):c.5850_5851delinsAT (p.His1950_Arg1951delinsGlnTer) rs2113698912
NM_004415.4(DSP):c.5851C>T (p.Arg1951Ter) rs869025395
NM_004415.4(DSP):c.5855del (p.Glu1952fs) rs1759501217
NM_004415.4(DSP):c.5877G>A (p.Trp1959Ter)
NM_004415.4(DSP):c.5887dup (p.Thr1963fs) rs2113699015
NM_004415.4(DSP):c.5943dup (p.Glu1982Ter) rs2113699152
NM_004415.4(DSP):c.5964_5968del (p.Lys1988fs)
NM_004415.4(DSP):c.5987del (p.Lys1996fs) rs1759510200
NM_004415.4(DSP):c.5999_6011del (p.Ser2000fs)
NM_004415.4(DSP):c.5999del (p.Lys1999_Ser2000insTer) rs2113699280
NM_004415.4(DSP):c.6072_6073insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCATCTGCTTCT (p.Pro2025fs)
NM_004415.4(DSP):c.6084dup (p.Tyr2029fs) rs2113699501
NM_004415.4(DSP):c.6085dup (p.Tyr2029fs)
NM_004415.4(DSP):c.6091_6092del (p.Leu2031fs) rs397514040
NM_004415.4(DSP):c.623del (p.Gly208fs) rs2113665067
NM_004415.4(DSP):c.6253C>T (p.Gln2085Ter)
NM_004415.4(DSP):c.6262del (p.Ala2088fs) rs1759522381
NM_004415.4(DSP):c.6273del (p.Ala2092fs) rs794728146
NM_004415.4(DSP):c.6288dup (p.Asp2097Ter) rs2113699911
NM_004415.4(DSP):c.6318del (p.Val2107fs) rs2113699991
NM_004415.4(DSP):c.6382C>T (p.Gln2128Ter) rs2113700191
NM_004415.4(DSP):c.6393del (p.Gly2133fs) rs730880093
NM_004415.4(DSP):c.6398dup (p.Val2134fs) rs794728147
NM_004415.4(DSP):c.6456dup (p.Leu2153fs) rs1554108854
NM_004415.4(DSP):c.6466dup (p.Arg2156fs) rs1554108859
NM_004415.4(DSP):c.646dup (p.Gln216fs) rs2113665124
NM_004415.4(DSP):c.6478C>T (p.Arg2160Ter) rs777573018
NM_004415.4(DSP):c.6496C>T (p.Arg2166Ter) rs141026028
NM_004415.4(DSP):c.6504_6507del (p.Ser2168fs) rs1561702640
NM_004415.4(DSP):c.6510_6511insCT (p.Asn2171fs) rs794728148
NM_004415.4(DSP):c.6516del (p.Phe2172fs)
NM_004415.4(DSP):c.6562del (p.Glu2188fs) rs2113700654
NM_004415.4(DSP):c.6583_6584del (p.His2195fs) rs1561702771
NM_004415.4(DSP):c.6605del (p.Leu2201_Ser2202insTer)
NM_004415.4(DSP):c.6697_6698del (p.Val2233fs) rs2113700906
NM_004415.4(DSP):c.6766_6767insTG (p.Gly2256fs) rs2113701020
NM_004415.4(DSP):c.6767del (p.Gly2256fs) rs1759546885
NM_004415.4(DSP):c.6850C>T (p.Arg2284Ter) rs794728130
NM_004415.4(DSP):c.6937del (p.Glu2313fs) rs794728143
NM_004415.4(DSP):c.6954_6955del (p.Gly2319fs) rs1554108929
NM_004415.4(DSP):c.698G>A (p.Trp233Ter)
NM_004415.4(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.4(DSP):c.700C>T (p.Gln234Ter) rs1758740270
NM_004415.4(DSP):c.7075del (p.Ile2359fs) rs1561703363
NM_004415.4(DSP):c.7082dup (p.His2363fs) rs2113701589
NM_004415.4(DSP):c.7096C>T (p.Arg2366Cys) rs28931610
NM_004415.4(DSP):c.7097G>A (p.Arg2366His) rs387906618
NM_004415.4(DSP):c.712dup (p.Ile238fs) rs397516956
NM_004415.4(DSP):c.7180_7181del (p.Arg2394fs) rs2113701771
NM_004415.4(DSP):c.7214_7217del (p.Leu2405fs)
NM_004415.4(DSP):c.7217C>G (p.Ser2406Ter) rs2113701867
NM_004415.4(DSP):c.7240G>T (p.Gly2414Ter) rs1194358112
NM_004415.4(DSP):c.7248del (p.Phe2416fs) rs730880024
NM_004415.4(DSP):c.7254dup (p.Asn2419fs)
NM_004415.4(DSP):c.729del (p.Glu244fs)
NM_004415.4(DSP):c.7325_7326del (p.Cys2442fs)
NM_004415.4(DSP):c.7372_7373del (p.Lys2458fs) rs1581823931
NM_004415.4(DSP):c.7393_7400del (p.Arg2465fs) rs2113702255
NM_004415.4(DSP):c.7469del (p.Tyr2490fs) rs1581824066
NM_004415.4(DSP):c.7529del (p.Gly2510fs) rs2113702487
NM_004415.4(DSP):c.7563_7566del (p.Asp2521fs) rs1320456072
NM_004415.4(DSP):c.7567_7570del (p.Lys2523fs) rs1759580297
NM_004415.4(DSP):c.7570_7573del (p.Thr2524fs) rs1561703922
NM_004415.4(DSP):c.7623del (p.Lys2542fs) rs397514039
NM_004415.4(DSP):c.7642C>T (p.Arg2548Ter) rs146296069
NM_004415.4(DSP):c.7662del (p.Thr2555fs)
NM_004415.4(DSP):c.7738del (p.Asp2580fs)
NM_004415.4(DSP):c.7773_7776del (p.Ser2591fs) rs763560697
NM_004415.4(DSP):c.7820del (p.Ser2607fs) rs2113703361
NM_004415.4(DSP):c.7873dup (p.Thr2625fs) rs794728149
NM_004415.4(DSP):c.7874_7875del (p.Thr2625fs) rs1561704475
NM_004415.4(DSP):c.7876_7877del (p.Glu2626fs)
NM_004415.4(DSP):c.7918_7919dup (p.Ile2641fs) rs1759606062
NM_004415.4(DSP):c.793_794del (p.Arg265fs) rs2113669181
NM_004415.4(DSP):c.7960C>T (p.Gln2654Ter)
NM_004415.4(DSP):c.7968_7972del (p.Cys2656fs)
NM_004415.4(DSP):c.7997del (p.Gly2666fs)
NM_004415.4(DSP):c.8014C>T (p.Gln2672Ter) rs1064793890
NM_004415.4(DSP):c.8014dup (p.Gln2672fs)
NM_004415.4(DSP):c.8040dup (p.Asp2681Ter)
NM_004415.4(DSP):c.8041_8042del (p.Asp2681fs)
NM_004415.4(DSP):c.8077_8080del (p.Lys2693fs) rs879254352
NM_004415.4(DSP):c.808C>T (p.Arg270Ter)
NM_004415.4(DSP):c.8140A>T (p.Lys2714Ter)
NM_004415.4(DSP):c.8143del (p.Glu2715fs)
NM_004415.4(DSP):c.8156del (p.Pro2719fs) rs1554109181
NM_004415.4(DSP):c.8170C>T (p.Gln2724Ter) rs879254353
NM_004415.4(DSP):c.8173del (p.Arg2725fs) rs1759623444
NM_004415.4(DSP):c.8182dup (p.Glu2728fs) rs1554109187
NM_004415.4(DSP):c.818dup (p.Asn274fs) rs1758828554
NM_004415.4(DSP):c.827_830del (p.Ile276fs) rs1758828907
NM_004415.4(DSP):c.829C>T (p.Gln277Ter)
NM_004415.4(DSP):c.84C>A (p.Tyr28Ter)
NM_004415.4(DSP):c.8501G>A (p.Arg2834His) rs121912999
NM_004415.4(DSP):c.85G>T (p.Glu29Ter) rs1320349488
NM_004415.4(DSP):c.867C>A (p.Cys289Ter) rs397516973
NM_004415.4(DSP):c.877G>A (p.Glu293Lys) rs876657799
NM_004415.4(DSP):c.888C>A (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.888C>G (p.Tyr296Ter) rs149701627
NM_004415.4(DSP):c.894G>A (p.Trp298Ter) rs2113669445
NM_004415.4(DSP):c.897C>A (p.Ser299Arg)
NM_004415.4(DSP):c.897C>G (p.Ser299Arg) rs121912992
NM_004415.4(DSP):c.919C>T (p.Gln307Ter) rs1238227166
NM_004415.4(DSP):c.924dup (p.Gln309fs) rs2113669536
NM_004415.4(DSP):c.925C>T (p.Gln309Ter) rs1581799453
NM_004415.4(DSP):c.928dup (p.Glu310fs) rs794728137
NM_004415.4(DSP):c.931del (p.Ala311fs)
NM_004415.4(DSP):c.939+1G>T rs727504443
NM_004415.4(DSP):c.939+1del rs1758835134
NM_004415.4(DSP):c.939+2T>C rs2113669594
NM_004415.4(DSP):c.942dup (p.Arg315fs) rs1758864039
NM_004415.4(DSP):c.991C>T (p.Gln331Ter) rs121912991
NM_004415.4(DSP):c.997del (p.Ser333fs)
NM_004444.5(EPHB4):c.1123G>T (p.Gly375Ter) rs1484547615
NM_004444.5(EPHB4):c.121C>T (p.Gln41Ter) rs2116462820
NM_004444.5(EPHB4):c.1788T>A (p.Tyr596Ter)
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2011T>C (p.Phe671Leu) rs2116431707
NM_004444.5(EPHB4):c.216G>A (p.Trp72Ter)
NM_004444.5(EPHB4):c.2215C>T (p.Arg739Ter)
NM_004444.5(EPHB4):c.2216G>A (p.Arg739Gln) rs1057519263
NM_004444.5(EPHB4):c.2287C>T (p.Arg763Ter) rs1331371272
NM_004444.5(EPHB4):c.2334+1G>C rs1562967463
NM_004444.5(EPHB4):c.2345T>G (p.Ile782Ser) rs1057519264
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) rs776410552
NM_004444.5(EPHB4):c.2484+1G>A rs927772349
NM_004444.5(EPHB4):c.2484+1G>T rs927772349
NM_004444.5(EPHB4):c.2484+2dup rs1584653620
NM_004444.5(EPHB4):c.2590C>T (p.Arg864Trp) rs769965440
NM_004444.5(EPHB4):c.2600T>C (p.Phe867Ser) rs2116413948
NM_004444.5(EPHB4):c.2605dup (p.Gln869fs) rs2116413904
NM_004444.5(EPHB4):c.319T>C (p.Cys107Arg) rs1562974383
NM_004444.5(EPHB4):c.33del (p.Leu12fs) rs1562976493
NM_004444.5(EPHB4):c.389G>A (p.Trp130Ter) rs1584666961
NM_004444.5(EPHB4):c.570dup (p.His191fs) rs1562973614
NM_004444.5(EPHB4):c.632_633del (p.Val211fs) rs1562973541
NM_004444.5(EPHB4):c.802T>C (p.Cys268Arg) rs201816920
NM_004453.3(ETFDH):c.[1367C>T];[1487T>C]
NM_004453.4(ETFDH):c.1011del (p.Phe337fs) rs757063739
NM_004453.4(ETFDH):c.1062del (p.Gly355fs) rs2150312280
NM_004453.4(ETFDH):c.1074G>C (p.Arg358Ser)
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys) rs2150312299
NM_004453.4(ETFDH):c.1117-2A>G
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro) rs387907170
NM_004453.4(ETFDH):c.1134del (p.Pro380fs) rs1369800014
NM_004453.4(ETFDH):c.1136_1140del (p.Phe379fs) rs2126309189
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg) rs1466787789
NM_004453.4(ETFDH):c.1169del (p.Gly390fs) rs1774519872
NM_004453.4(ETFDH):c.1227A>C (p.Leu409Phe) rs1200031596
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs) rs1480647123
NM_004453.4(ETFDH):c.1270C>T (p.Gln424Ter)
NM_004453.4(ETFDH):c.1276A>T (p.Lys426Ter)
NM_004453.4(ETFDH):c.1281_1282del (p.Ile428fs)
NM_004453.4(ETFDH):c.1285+2T>G rs2126309523
NM_004453.4(ETFDH):c.1303dup (p.Tyr435fs)
NM_004453.4(ETFDH):c.1339G>T (p.Glu447Ter) rs2126314844
NM_004453.4(ETFDH):c.1349_1350del (p.Ser450fs)
NM_004453.4(ETFDH):c.1355_1358del (p.Arg452fs)
NM_004453.4(ETFDH):c.1374C>A (p.Cys458Ter) rs1580422708
NM_004453.4(ETFDH):c.1375del (p.His459fs) rs1774610957
NM_004453.4(ETFDH):c.1378G>T (p.Gly460Ter) rs989125087
NM_004453.4(ETFDH):c.1395T>G (p.Tyr465Ter) rs745714733
NM_004453.4(ETFDH):c.1428G>A (p.Trp476Ter)
NM_004453.4(ETFDH):c.1433T>A (p.Leu478Ter) rs2126315337
NM_004453.4(ETFDH):c.1433del (p.Ile477_Leu478insTer)
NM_004453.4(ETFDH):c.1450T>C (p.Trp484Arg) rs1774616485
NM_004453.4(ETFDH):c.1457dup (p.Lys487fs)
NM_004453.4(ETFDH):c.1464_1465del (p.His488fs) rs2126315444
NM_004453.4(ETFDH):c.1487T>C (p.Leu496Pro) rs863224869
NM_004453.4(ETFDH):c.1512dup (p.Ile505fs) rs2126316172
NM_004453.4(ETFDH):c.1522C>A (p.Pro508Thr) rs751394068
NM_004453.4(ETFDH):c.152G>A (p.Arg51Gln) rs534388496
NM_004453.4(ETFDH):c.1555_1556del (p.Leu519fs) rs1774630121
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs) rs727503919
NM_004453.4(ETFDH):c.157A>T (p.Lys53Ter) rs878853006
NM_004453.4(ETFDH):c.1607_1608del (p.His536fs) rs1774633192
NM_004453.4(ETFDH):c.1623del (p.Asp541fs) rs2126316669
NM_004453.4(ETFDH):c.1627_1628insAT (p.Ser543fs)
NM_004453.4(ETFDH):c.1629dup (p.Ile544fs) rs2126316699
NM_004453.4(ETFDH):c.1631dup (p.Pro545fs) rs771393519
NM_004453.4(ETFDH):c.163_164del (p.Lys55fs) rs2150304416
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs) rs1469053638
NM_004453.4(ETFDH):c.1650_1651del (p.Ser551fs) rs2126316783
NM_004453.4(ETFDH):c.1652C>A (p.Ser551Ter)
NM_004453.4(ETFDH):c.1659T>G (p.Tyr553Ter)
NM_004453.4(ETFDH):c.1666C>T (p.Pro556Ser) rs2126316885
NM_004453.4(ETFDH):c.1675C>T (p.Arg559Ter)
NM_004453.4(ETFDH):c.1690+2T>G
NM_004453.4(ETFDH):c.1691-3C>G
NM_004453.4(ETFDH):c.1699G>T (p.Glu567Ter) rs1774695889
NM_004453.4(ETFDH):c.172G>T (p.Glu58Ter)
NM_004453.4(ETFDH):c.1745del (p.Asn582fs) rs1774698674
NM_004453.4(ETFDH):c.175+1del rs2150304426
NM_004453.4(ETFDH):c.175+2T>C
NM_004453.4(ETFDH):c.1763A>G (p.His588Arg) rs781498366
NM_004453.4(ETFDH):c.1779del (p.Asp593fs)
NM_004453.4(ETFDH):c.1785del (p.Asp596fs) rs2126321079
NM_004453.4(ETFDH):c.1804_1807dup (p.Trp603Ter) rs1580425904
NM_004453.4(ETFDH):c.1825GGA[2] (p.Gly611del)
NM_004453.4(ETFDH):c.1828G>A (p.Gly610Arg) rs2126321296
NM_004453.4(ETFDH):c.1842_1845dup (p.Gly616fs)
NM_004453.4(ETFDH):c.1850_1854del (p.Met617fs)
NM_004453.4(ETFDH):c.207del (p.Asp70fs) rs1773877563
NM_004453.4(ETFDH):c.240_241del (p.Ser82fs)
NM_004453.4(ETFDH):c.251C>T (p.Ala84Val) rs1580396712
NM_004453.4(ETFDH):c.265C>T (p.Gln89Ter) rs2150305196
NM_004453.4(ETFDH):c.265_266del (p.Gln89fs) rs1773880008
NM_004453.4(ETFDH):c.269T>A (p.Leu90Ter) rs749085653
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr) rs121964953
NM_004453.4(ETFDH):c.302_303dup (p.Leu102fs) rs796051962
NM_004453.4(ETFDH):c.34+5G>C rs1373597092
NM_004453.4(ETFDH):c.344C>G (p.Ser115Ter) rs2150305273
NM_004453.4(ETFDH):c.350_351dup (p.Cys118fs)
NM_004453.4(ETFDH):c.360dup (p.Pro121fs)
NM_004453.4(ETFDH):c.36del (p.Tyr13fs) rs2150304327
NM_004453.4(ETFDH):c.380T>A (p.Leu127His) rs121964956
NM_004453.4(ETFDH):c.380T>G (p.Leu127Arg) rs121964956
NM_004453.4(ETFDH):c.383del (p.Phe128fs)
NM_004453.4(ETFDH):c.386del (p.Pro129fs) rs2150305297
NM_004453.4(ETFDH):c.398_402del (p.Glu133fs) rs2150305310
NM_004453.4(ETFDH):c.3G>C (p.Met1Ile)
NM_004453.4(ETFDH):c.3G>T (p.Met1Ile)
NM_004453.4(ETFDH):c.409C>T (p.Pro137Ser)
NM_004453.4(ETFDH):c.40del (p.Gln14fs)
NM_004453.4(ETFDH):c.430G>T (p.Glu144Ter)
NM_004453.4(ETFDH):c.430_431del (p.Glu144fs)
NM_004453.4(ETFDH):c.432_438del (p.Glu144fs) rs1231802914
NM_004453.4(ETFDH):c.443_446dup (p.Ile149fs) rs1773954366
NM_004453.4(ETFDH):c.462C>G (p.Tyr154Ter) rs878853082
NM_004453.4(ETFDH):c.463A>T (p.Arg155Ter) rs549150456
NM_004453.4(ETFDH):c.468dup (p.Pro157fs)
NM_004453.4(ETFDH):c.488-1G>T rs2150306551
NM_004453.4(ETFDH):c.524G>A (p.Arg175His) rs121964955
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu) rs121964955
NM_004453.4(ETFDH):c.56del (p.Ala18_Leu19insTer) rs2150304339
NM_004453.4(ETFDH):c.577G>T (p.Glu193Ter)
NM_004453.4(ETFDH):c.583_584dup (p.Pro196fs) rs2150306625
NM_004453.4(ETFDH):c.643G>A (p.Ala215Thr)
NM_004453.4(ETFDH):c.684+2T>G rs1580406119
NM_004453.4(ETFDH):c.71dup (p.Asn24fs) rs2150304342
NM_004453.4(ETFDH):c.736G>A (p.Glu246Lys)
NM_004453.4(ETFDH):c.838del (p.Val280fs)
NM_004453.4(ETFDH):c.872T>G (p.Val291Gly) rs755907131
NM_004453.4(ETFDH):c.892C>T (p.Pro298Ser) rs1774344831
NM_004453.4(ETFDH):c.916G>T (p.Gly306Ter)
NM_004453.4(ETFDH):c.972+1del
NM_004453.4(ETFDH):c.98G>A (p.Trp33Ter) rs1169197181
NM_004453.4(ETFDH):c.992A>T (p.Asn331Ile) rs2150312216
NM_004453.4(ETFDH):c.999C>A (p.Tyr333Ter) rs2150312228
NM_004521.3(KIF5B):c.762CAA[1] (p.Asn255del) rs1841455410
NM_004523.4(KIF11):c.-1_2delinsAA (p.Met1fs) rs797045649
NM_004523.4(KIF11):c.1039_1040del (p.Leu347fs) rs730882061
NM_004523.4(KIF11):c.1116dup (p.Ala373fs) rs1589595589
NM_004523.4(KIF11):c.112del (p.His38fs) rs1554859309
NM_004523.4(KIF11):c.1159C>T (p.Arg387Ter) rs387906641
NM_004523.4(KIF11):c.1288GAG[2] (p.Glu432del) rs1554861545
NM_004523.4(KIF11):c.1408G>T (p.Glu470Ter) rs786205900
NM_004523.4(KIF11):c.157C>T (p.Arg53Ter) rs2135900558
NM_004523.4(KIF11):c.1592del (p.Gln531fs) rs730882062
NM_004523.4(KIF11):c.2049dup (p.Asn684Ter)
NM_004523.4(KIF11):c.2160+1G>T rs1554862218
NM_004523.4(KIF11):c.2161-1G>A rs1844845643
NM_004523.4(KIF11):c.2230C>T (p.Gln744Ter) rs1554862427
NM_004523.4(KIF11):c.2267+1G>A
NM_004523.4(KIF11):c.2300_2301del (p.Phe767fs) rs730882121
NM_004523.4(KIF11):c.2304_2305del (p.His768fs) rs2135923352
NM_004523.4(KIF11):c.2308C>T (p.Gln770Ter)
NM_004523.4(KIF11):c.2341C>T (p.Gln781Ter) rs1057516208
NM_004523.4(KIF11):c.2441_2442insTTCTT (p.Glu814fs) rs2135923459
NM_004523.4(KIF11):c.247C>T (p.Arg83Ter) rs1064796738
NM_004523.4(KIF11):c.2507_2510del (p.Ser835_Ser836insTer) rs2135923477
NM_004523.4(KIF11):c.2514_2518del (p.Asn838fs)
NM_004523.4(KIF11):c.253_260delinsTTGTTCA (p.Val85fs)
NM_004523.4(KIF11):c.2547+2T>C rs730882063
NM_004523.4(KIF11):c.2548-1G>A rs1554863016
NM_004523.4(KIF11):c.2771-1G>C rs2135925601
NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter) rs1589608594
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys) rs387906642
NM_004523.4(KIF11):c.2922G>A (p.Pro974=)
NM_004523.4(KIF11):c.308+1G>A
NM_004523.4(KIF11):c.436A>T (p.Lys146Ter) rs797045650
NM_004523.4(KIF11):c.478_479del (p.Leu160fs) rs1589591659
NM_004523.4(KIF11):c.699-7_705del rs797045651
NM_004523.4(KIF11):c.704C>G (p.Ser235Cys) rs387906643
NM_004523.4(KIF11):c.77+1G>A rs1057524736
NM_004523.4(KIF11):c.790-1G>A rs730882122
NM_004523.4(KIF11):c.790-1G>T rs730882122
NM_004523.4(KIF11):c.868C>T (p.Gln290Ter) rs1554859966
NM_004523.4(KIF11):c.945_946del (p.Lys315fs)
NM_004523.4:c.(1217+1_1218-1)_(1494+1_1495-1)del
NM_004572.3(PKP2):c.1677dup (p.Gly560Trpfs) rs1555144459
NM_004572.3(PKP2):c.2146-?_2489+?del
NM_004612.4(TGFBR1):c.1005A>T (p.Lys335Asn) rs2118804176
NM_004612.4(TGFBR1):c.102dup (p.Gln35fs) rs2118563240
NM_004612.4(TGFBR1):c.1043G>A (p.Cys348Tyr)
NM_004612.4(TGFBR1):c.1058G>T (p.Gly353Val) rs1554701911
NM_004612.4(TGFBR1):c.1083del (p.Thr362fs)
NM_004612.4(TGFBR1):c.1121G>A (p.Gly374Glu) rs1554701930
NM_004612.4(TGFBR1):c.1126A>G (p.Lys376Glu) rs2118807458
NM_004612.4(TGFBR1):c.1189A>T (p.Lys397Ter)
NM_004612.4(TGFBR1):c.1199A>G (p.Asp400Gly) rs121918711
NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter) rs387906697
NM_004612.4(TGFBR1):c.1255+1G>A rs1554702262
NM_004612.4(TGFBR1):c.1302_1303dup (p.Asp435fs) rs886038954
NM_004612.4(TGFBR1):c.1391dup (p.Leu464fs)
NM_004612.4(TGFBR1):c.1395_1396dup (p.Val466fs)
NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly) rs730880223
NM_004612.4(TGFBR1):c.1453_1473del (p.Ala485_Thr491del) rs1827902114
NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser) rs886039176
NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp) rs111426349
NM_004612.4(TGFBR1):c.1460G>C (p.Arg487Pro) rs113605875
NM_004612.4(TGFBR1):c.230T>G (p.Leu77Ter) rs1554698926
NM_004612.4(TGFBR1):c.236_237insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGAATGATCACCTGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAATTGACTTAATTCC (p.Pro79_Arg80insAlaGlyArgGlyGlySerArgLeuTer)
NM_004612.4(TGFBR1):c.238C>T (p.Arg80Ter) rs1827126921
NM_004612.4(TGFBR1):c.3_27dup (p.Pro10fs)
NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter) rs1060502040
NM_004612.4(TGFBR1):c.516dup (p.Glu173fs) rs2118630690
NM_004612.4(TGFBR1):c.599C>T (p.Thr200Ile) rs121918712
NM_004612.4(TGFBR1):c.605C>T (p.Ala202Val) rs1564161322
NM_004612.4(TGFBR1):c.633_635dup (p.Gly212dup) rs1554700603
NM_004612.4(TGFBR1):c.643C>T (p.Arg215Ter)
NM_004612.4(TGFBR1):c.679G>A (p.Glu227Lys) rs1060502042
NM_004612.4(TGFBR1):c.680AAG[1] (p.Glu228del) rs863223829
NM_004612.4(TGFBR1):c.686T>C (p.Val229Ala)
NM_004612.4(TGFBR1):c.694A>T (p.Lys232Ter)
NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu) rs1060502046
NM_004612.4(TGFBR1):c.715G>A (p.Glu239Lys)
NM_004612.4(TGFBR1):c.71_75del (p.Ala24fs) rs886038783
NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu) rs111854391
NM_004612.4(TGFBR1):c.733G>T (p.Glu245Ter) rs1057524497
NM_004612.4(TGFBR1):c.757A>G (p.Met253Val) rs886038919
NM_004612.4(TGFBR1):c.779T>A (p.Leu260Gln) rs397517033
NM_004612.4(TGFBR1):c.781G>T (p.Gly261Ter) rs1554700672
NM_004612.4(TGFBR1):c.833dup (p.Leu278fs) rs1827647395
NM_004612.4(TGFBR1):c.836T>C (p.Val279Ala)
NM_004612.4(TGFBR1):c.839C>G (p.Ser280Ter)
NM_004612.4(TGFBR1):c.848A>G (p.His283Arg) rs1064796037
NM_004612.4(TGFBR1):c.873_876del (p.Asp290_Tyr291insTer) rs1554701447
NM_004612.4(TGFBR1):c.944A>G (p.His315Arg) rs1060502045
NM_004612.4(TGFBR1):c.953T>G (p.Met318Arg) rs121918710
NM_004612.4(TGFBR1):c.973+1G>T
NM_004612.4(TGFBR1):c.974-2A>G rs1554701881
NM_004859.4(CLTC):c.1912_1916delinsAGA (p.Ala639fs) rs2032738350
NM_004959.5(NR5A1):c.1048C>T (p.Arg350Trp) rs754336683
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu) rs121918654
NM_004959.5(NR5A1):c.1058_1065del (p.Glu353fs)
NM_004959.5(NR5A1):c.1106_1109del (p.Val369fs)
NM_004959.5(NR5A1):c.11C>A (p.Ser4Ter) rs145936761
NM_004959.5(NR5A1):c.1210T>G (p.Tyr404Asp) rs863224904
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln) rs104894120
NM_004959.5(NR5A1):c.151G>T (p.Glu51Ter) rs775441984
NM_004959.5(NR5A1):c.164del (p.Cys55fs)
NM_004959.5(NR5A1):c.18del (p.Asp6fs) rs606231205
NM_004959.5(NR5A1):c.19G>T (p.Glu7Ter) rs2131290040
NM_004959.5(NR5A1):c.234G>A (p.Met78Ile) rs104894125
NM_004959.5(NR5A1):c.259C>T (p.Arg87Cys) rs866712684
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.34_38delinsGACCTGGACCTGT (p.Leu12fs) rs1554721883
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_004959.5(NR5A1):c.983G>T (p.Gly328Val) rs2131279852
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg) rs104894366
NM_004985.5(KRAS):c.101C>T (p.Pro34Leu) rs104894366
NM_004985.5(KRAS):c.108A>G (p.Ile36Met) rs727503109
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.182A>G (p.Gln61Arg) rs121913240
NM_004985.5(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_004985.5(KRAS):c.194_195insGGCAATGAGGGACCAGTACAG (p.Tyr64_Ser65insArgAlaMetArgAspGlnTyr) rs2141509973
NM_004985.5(KRAS):c.214A>T (p.Met72Leu) rs727504662
NM_004985.5(KRAS):c.34G>C (p.Gly12Arg) rs121913530
NM_004985.5(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.40G>A (p.Val14Ile) rs104894365
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_004985.5(KRAS):c.466T>A (p.Phe156Ile) rs397517042
NM_004985.5(KRAS):c.53C>T (p.Ala18Val) rs2135806030
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg) rs727503110
NM_004999.4(MYO6):c.1325G>A (p.Cys442Tyr) rs121912557
NM_004999.4(MYO6):c.1452dup (p.Asn485Ter) rs1775958137
NM_004999.4(MYO6):c.1473_1473+2delinsC rs878853225
NM_004999.4(MYO6):c.2417-1758T>G rs1562283089
NM_004999.4(MYO6):c.2717C>A (p.Ser906Ter) rs1554218566
NM_004999.4(MYO6):c.3765del (p.Cys1256fs) rs1582024232
NM_004999.4(MYO6):c.897G>T (p.Glu299Asp) rs1060499799
NM_005045.4(RELN):c.1475del (p.Asn492fs)
NM_005045.4(RELN):c.204C>G (p.Tyr68Ter)
NM_005045.4(RELN):c.2075del (p.Asp692fs)
NM_005045.4(RELN):c.2086dup (p.Ser696fs) rs1832583187
NM_005045.4(RELN):c.2364del (p.Asp789fs) rs2117348851
NM_005045.4(RELN):c.265del (p.Leu88_Val89insTer) rs2116670615
NM_005045.4(RELN):c.2896G>T (p.Glu966Ter)
NM_005045.4(RELN):c.3215del (p.Asp1072fs) rs1831725857
NM_005045.4(RELN):c.329dup (p.Gly111fs) rs797045912
NM_005045.4(RELN):c.3346C>T (p.Gln1116Ter)
NM_005045.4(RELN):c.3378G>A (p.Trp1126Ter) rs2117255208
NM_005045.4(RELN):c.3485dup (p.Ile1163fs) rs1831540545
NM_005045.4(RELN):c.3615_3616del (p.Glu1207fs)
NM_005045.4(RELN):c.3711+2T>C
NM_005045.4(RELN):c.3856C>T (p.Arg1286Ter)
NM_005045.4(RELN):c.3871C>T (p.Arg1291Ter) rs2117248586
NM_005045.4(RELN):c.4190del (p.Asn1397fs) rs2117208388
NM_005045.4(RELN):c.4449_4450del (p.Tyr1484fs) rs2117205170
NM_005045.4(RELN):c.4510A>T (p.Arg1504Ter) rs2117204949
NM_005045.4(RELN):c.4639C>T (p.Arg1547Ter) rs2117189408
NM_005045.4(RELN):c.4726C>T (p.Arg1576Ter)
NM_005045.4(RELN):c.4904_4905insA (p.Met1635fs) rs2117188195
NM_005045.4(RELN):c.5115del (p.Ile1706fs)
NM_005045.4(RELN):c.5193C>A (p.Tyr1731Ter) rs587780435
NM_005045.4(RELN):c.5195_5208dup (p.Ile1737fs) rs587780436
NM_005045.4(RELN):c.5323C>T (p.Arg1775Ter)
NM_005045.4(RELN):c.5455del (p.Glu1819fs)
NM_005045.4(RELN):c.5489del (p.Gly1830fs)
NM_005045.4(RELN):c.5530-1G>A rs2117170464
NM_005045.4(RELN):c.5587C>T (p.Gln1863Ter) rs797045915
NM_005045.4(RELN):c.5969+1G>A rs869320767
NM_005045.4(RELN):c.6202_6203del (p.Leu2068fs) rs1830401647
NM_005045.4(RELN):c.6338_6342dup (p.Gly2115fs)
NM_005045.4(RELN):c.6474del (p.Cys2159fs) rs2117139699
NM_005045.4(RELN):c.6526C>T (p.Gln2176Ter)
NM_005045.4(RELN):c.6574C>T (p.Arg2192Ter)
NM_005045.4(RELN):c.675_676del (p.Cys225_Glu226delinsTer)
NM_005045.4(RELN):c.6787G>T (p.Glu2263Ter)
NM_005045.4(RELN):c.7490+1G>A rs587780437
NM_005045.4(RELN):c.8041C>T (p.Gln2681Ter)
NM_005045.4(RELN):c.8047G>T (p.Glu2683Ter) rs1829533362
NM_005045.4(RELN):c.8433del (p.Pro2812fs)
NM_005045.4(RELN):c.8698G>T (p.Glu2900Ter)
NM_005045.4(RELN):c.8844-2A>G
NM_005045.4(RELN):c.9052C>T (p.Arg3018Ter) rs2117021067
NM_005045.4(RELN):c.9474dup (p.Cys3159fs)
NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter) rs751409835
NM_005045.4:c.6524_6671del
NM_005061.3(RPL3L):c.481C>T (p.Arg161Trp) rs143544112
NM_005061.3(RPL3L):c.923A>T (p.Asp308Val) rs2150861462
NM_005070.4(SLC4A3):c.1028G>A (p.Arg343His)
NM_005120.3(MED12):c.1249G>A (p.Val417Ile) rs2147783166
NM_005120.3(MED12):c.3873G>A (p.Trp1291Ter)
NM_005120.3(MED12):c.5920C>T (p.Gln1974Ter) rs1569482431
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.227_230del (p.Leu76fs)
NM_005138.3(SCO2):c.256C>T (p.Gln86Ter) rs2069218741
NM_005138.3(SCO2):c.2T>C (p.Met1Thr) rs1603441682
NM_005138.3(SCO2):c.398G>A (p.Cys133Tyr) rs28937868
NM_005138.3(SCO2):c.544C>T (p.Gln182Ter)
NM_005138.3(SCO2):c.577G>A (p.Gly193Ser)
NM_005138.3(SCO2):c.674C>T (p.Ser225Phe) rs80358232
NM_005157.6(ABL1):c.1009G>A (p.Ala337Thr) rs1060499548
NM_005157.6(ABL1):c.677A>G (p.Tyr226Cys) rs1060499547
NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly) rs121912674
NM_005159.5(ACTC1):c.215_231del (p.Pro72fs) rs387906585
NM_005159.5(ACTC1):c.373A>G (p.Met125Val) rs121912677
NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala) rs267606628
NM_005159.5(ACTC1):c.740G>A (p.Gly247Asp) rs1566967399
NM_005159.5(ACTC1):c.76G>A (p.Asp26Asn) rs727504399
NM_005159.5(ACTC1):c.843del (p.Thr280_Tyr281insTer)
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser) rs121912675
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro) rs267606629
NM_005184.4(CALM3):c.281A>C (p.Asp94Ala) rs1060502608
NM_005184.4(CALM3):c.286G>C (p.Asp96His) rs1060502607
NM_005184.4(CALM3):c.389A>G (p.Asp130Gly) rs1599759554
NM_005184.4(CALM3):c.390C>G (p.Asp130Glu) rs35617141
NM_005184.4(CALM3):c.421G>A (p.Glu141Lys) rs1599759598
NM_005188.4(CBL):c.1096-1G>C rs397517076
NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) rs267606704
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn) rs267606706
NM_005189.3(CBX2):c.1328G>C (p.Arg443Pro) rs121908256
NM_005189.3(CBX2):c.293C>T (p.Pro98Leu) rs121908255
NM_005251.3(FOXC2):c.1090_1093dup (p.Pro365fs) rs1567571702
NM_005251.3(FOXC2):c.1205C>T (p.Pro402Leu) rs1567571823
NM_005251.3(FOXC2):c.122A>T (p.Tyr41Phe) rs1043354227
NM_005251.3(FOXC2):c.1258C>T (p.Gln420Ter) rs1567571863
NM_005251.3(FOXC2):c.1331del (p.Gln444fs) rs1597403198
NM_005251.3(FOXC2):c.200_201dup (p.Lys68fs) rs1567571065
NM_005251.3(FOXC2):c.209dup (p.Val71fs) rs1567571075
NM_005251.3(FOXC2):c.290_300del (p.Gly97fs) rs1567571141
NM_005251.3(FOXC2):c.297C>G (p.Tyr99Ter) rs104894516
NM_005251.3(FOXC2):c.298C>T (p.Gln100Ter) rs2144018707
NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys) rs1567571184
NM_005251.3(FOXC2):c.362G>A (p.Arg121His) rs121909107
NM_005251.3(FOXC2):c.374C>T (p.Ser125Leu) rs121909106
NM_005251.3(FOXC2):c.509del (p.Lys170fs) rs1567571276
NM_005251.3(FOXC2):c.563_573del (p.Pro188fs) rs1974220729
NM_005251.3(FOXC2):c.588dup (p.Thr197fs) rs1567571345
NM_005251.3(FOXC2):c.602_681delinsACAAA (p.Ala201_Thr226delinsAsp) rs1567571360
NM_005251.3(FOXC2):c.710dup (p.Gln238fs) rs1974224118
NM_005251.3(FOXC2):c.908_923dup (p.Pro309fs)
NM_005251.3(FOXC2):c.914_921del (p.Tyr305fs) rs1567571564
NM_005251.3(FOXC2):c.973del (p.Ala325fs) rs1974229664
NM_005257.6(GATA6):c.1321G>T (p.Gly441Ter) rs2143300665
NM_005257.6(GATA6):c.1396A>C (p.Asn466His) rs387906813
NM_005257.6(GATA6):c.1418_1424del (p.Lys473fs) rs2143300954
NM_005257.6(GATA6):c.1457_1458del (p.Glu486fs) rs1598737972
NM_005257.6(GATA6):c.1477C>T (p.Arg493Ter) rs1598737976
NM_005257.6(GATA6):c.151G>T (p.Glu51Ter)
NM_005257.6(GATA6):c.23G>A (p.Trp8Ter) rs2033033528
NM_005257.6(GATA6):c.358C>T (p.Gln120Ter)
NM_005257.6(GATA6):c.616C>T (p.Gln206Ter)
NM_005257.6(GATA6):c.729_730del (p.Gly244fs)
NM_005257.6(GATA6):c.838G>T (p.Gly280Ter) rs2033057699
NM_005273.4(GNB2):c.155G>T (p.Arg52Leu) rs948934468
NM_005343.4(HRAS):c.108_110dup (p.Glu37dup) rs398122809
NM_005343.4(HRAS):c.110_111+1dup rs398122808
NM_005343.4(HRAS):c.172_177delinsGTCCTGGATGTT (p.Thr58_Ala59delinsValLeuAspVal) rs1589792836
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile) rs121917758
NM_005343.4(HRAS):c.179G>A (p.Gly60Asp) rs730880460
NM_005343.4(HRAS):c.179G>T (p.Gly60Val) rs730880460
NM_005343.4(HRAS):c.186_206dup (p.Glu62_Arg68dup) rs1554884966
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>A (p.Gly12Asp) rs104894230
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.35_36delinsTT (p.Gly12Val) rs727503094
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.388G>C (p.Ala130Pro) rs1564788957
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp) rs104894226
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) 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.466T>C (p.Phe156Leu) rs2133982557
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys) rs121917757
NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs) rs377767335
NM_005359.6(SMAD4):c.1019dup (p.Val341fs)
NM_005359.6(SMAD4):c.1023del (p.Pro342fs) rs1555686469
NM_005359.6(SMAD4):c.1028C>G (p.Ser343Ter) rs1599195400
NM_005359.6(SMAD4):c.1045dup (p.Thr349fs) rs1599195433
NM_005359.6(SMAD4):c.1052A>T (p.Asp351Val) rs1060500741
NM_005359.6(SMAD4):c.1059C>G (p.Tyr353Ter) rs863224400
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.6(SMAD4):c.1096C>T (p.Gln366Ter) rs1060500733
NM_005359.6(SMAD4):c.1134_1135del (p.Arg378fs) rs1555686503
NM_005359.6(SMAD4):c.1138del (p.Arg380fs) rs1555686506
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys) rs377767353
NM_005359.6(SMAD4):c.1140-1G>A rs1555686594
NM_005359.6(SMAD4):c.1158_1159insTG (p.Val387fs)
NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter) rs1599196995
NM_005359.6(SMAD4):c.1198del (p.Arg400fs) rs1060500734
NM_005359.6(SMAD4):c.1201dup (p.Cys401fs) rs1555686604
NM_005359.6(SMAD4):c.1206dup (p.Ser403Ter) rs878854765
NM_005359.6(SMAD4):c.1228_1229del (p.Gln410fs) rs1555686608
NM_005359.6(SMAD4):c.1239C>G (p.Tyr413Ter) rs730881954
NM_005359.6(SMAD4):c.1239_1241del (p.Tyr413_Leu414delinsTer) rs1555686610
NM_005359.6(SMAD4):c.1239_1242del (p.Tyr412_Tyr413insTer)
NM_005359.6(SMAD4):c.1245_1248del (p.Asp415Glufs) rs80338965
NM_005359.6(SMAD4):c.1289dup (p.Tyr430Ter)
NM_005359.6(SMAD4):c.1308+1G>A rs587781618
NM_005359.6(SMAD4):c.1309-1G>A rs1555687377
NM_005359.6(SMAD4):c.1311del (p.Phe438fs) rs1599204042
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter) rs377767360
NM_005359.6(SMAD4):c.1345C>T (p.Gln449Ter) rs587781359
NM_005359.6(SMAD4):c.1349_1376del (p.Gln450fs) rs876660720
NM_005359.6(SMAD4):c.1351_1375del (p.Ala451fs) rs587780124
NM_005359.6(SMAD4):c.1361_1364del (p.Ala454fs) rs377767363
NM_005359.6(SMAD4):c.1381C>T (p.Gln461Ter) rs1599204140
NM_005359.6(SMAD4):c.1410_1413dup (p.Pro472fs)
NM_005359.6(SMAD4):c.1418del (p.Gly473fs) rs1555687388
NM_005359.6(SMAD4):c.1507_1508insATCC (p.Met503fs)
NM_005359.6(SMAD4):c.153del (p.Asp52fs) rs786203560
NM_005359.6(SMAD4):c.153dup (p.Asp52fs) rs786203560
NM_005359.6(SMAD4):c.1547dup (p.Ser517fs) rs587783060
NM_005359.6(SMAD4):c.1549_1550del (p.Ser517fs) rs377767373
NM_005359.6(SMAD4):c.1585_1586dup (p.Leu529fs) rs876660150
NM_005359.6(SMAD4):c.223C>T (p.Gln75Ter)
NM_005359.6(SMAD4):c.250-1G>A rs1555685149
NM_005359.6(SMAD4):c.263_287dup (p.Leu98fs)
NM_005359.6(SMAD4):c.275_276del (p.His92fs) rs1555685156
NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter) rs876660079
NM_005359.6(SMAD4):c.303G>A (p.Trp101Ter) rs1909619442
NM_005359.6(SMAD4):c.320del (p.Asn107fs)
NM_005359.6(SMAD4):c.337_343del (p.Lys113fs)
NM_005359.6(SMAD4):c.372_373dup (p.Ser125fs)
NM_005359.6(SMAD4):c.399C>G (p.Tyr133Ter) rs779069779
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter) rs377767326
NM_005359.6(SMAD4):c.413C>G (p.Ser138Ter) rs1599182571
NM_005359.6(SMAD4):c.415_416del (p.Pro139fs) rs1599182586
NM_005359.6(SMAD4):c.424+1G>A rs377767386
NM_005359.6(SMAD4):c.430_431del (p.Ser144fs) rs377767328
NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter) rs1555685624
NM_005359.6(SMAD4):c.479dup (p.Asp160fs)
NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter) rs1449334786
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter) rs377767331
NM_005359.6(SMAD4):c.547C>T (p.Gln183Ter) rs1555685645
NM_005359.6(SMAD4):c.584dup (p.Tyr195Ter)
NM_005359.6(SMAD4):c.585C>G (p.Tyr195Ter) rs1316902116
NM_005359.6(SMAD4):c.633dup (p.Ala212fs)
NM_005359.6(SMAD4):c.692del (p.Gly231fs)
NM_005359.6(SMAD4):c.692dup (p.Ser232fs) rs377767334
NM_005359.6(SMAD4):c.725C>G (p.Ser242Ter)
NM_005359.6(SMAD4):c.752del (p.Asn251fs) rs1555685925
NM_005359.6(SMAD4):c.794dup (p.Thr266fs)
NM_005359.6(SMAD4):c.860_861insGATA (p.His287fs)
NM_005359.6(SMAD4):c.886_895del (p.Pro296fs) rs869312781
NM_005359.6(SMAD4):c.898_904+1dup rs1555685974
NM_005359.6(SMAD4):c.903del (p.Trp302fs) rs1555685978
NM_005359.6(SMAD4):c.905G>A (p.Trp302Ter) rs1555686071
NM_005359.6(SMAD4):c.906G>A (p.Trp302Ter) rs878854769
NM_005359.6(SMAD4):c.915del (p.His305fs)
NM_005359.6(SMAD4):c.917del (p.Asn306fs)
NM_005359.6(SMAD4):c.931C>T (p.Gln311Ter) rs876658694
NM_005359.6(SMAD4):c.939dup (p.Ile314fs) rs1568206602
NM_005359.6(SMAD4):c.969G>A (p.Trp323Ter)
NM_005401.5(PTPN14):c.401_402insTT (p.Leu135fs) rs1558092113
NM_005401.5(PTPN14):c.581+60_669+877del
NM_005429.5(VEGFC):c.571_572insTT (p.Pro191fs) rs587777566
NM_005429.5(VEGFC):c.628C>T (p.Arg210Ter) rs587777567
NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys) rs2151221183
NM_005477.3(HCN4):c.1209+2_1209+3insGTGA rs786205418
NM_005477.3(HCN4):c.1241C>G (p.Ala414Gly) rs1057519276
NM_005477.3(HCN4):c.1438G>C (p.Gly480Arg) rs121908411
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005477.3(HCN4):c.1444G>A (p.Gly482Arg) rs794727637
NM_005477.3(HCN4):c.1631del (p.Pro544fs) rs1057519015
NM_005477.3(HCN4):c.1920_1932dup (p.Lys645fs) rs1057519274
NM_005477.3(HCN4):c.2016C>A (p.Ser672Arg) rs104894488
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser) rs80338938
NM_005585.5(SMAD6):c.1012G>T (p.Glu338Ter) rs2140681185
NM_005585.5(SMAD6):c.1168_1173dup (p.Gly390_Ile391dup) rs1595804976
NM_005585.5(SMAD6):c.1244C>T (p.Pro415Leu) rs387907284
NM_005585.5(SMAD6):c.1285A>T (p.Lys429Ter) rs1894566397
NM_005585.5(SMAD6):c.1451G>T (p.Cys484Phe) rs387907283
NM_005585.5(SMAD6):c.42G>A (p.Trp14Ter) rs1246889300
NM_005585.5(SMAD6):c.531C>G (p.Tyr177Ter) rs760571406
NM_005585.5(SMAD6):c.652C>T (p.Gln218Ter) rs1196005021
NM_005585.5(SMAD6):c.770C>T (p.Pro257Leu) rs1567092020
NM_005585.5(SMAD6):c.794del (p.His265fs) rs1567092071
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg) rs267607080
NM_005633.4(SOS1):c.1297G>A (p.Glu433Lys) rs397517147
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1300G>C (p.Gly434Arg) rs397517148
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr) rs397517150
NM_005633.4(SOS1):c.1322G>A (p.Cys441Tyr) rs727504295
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005633.4(SOS1):c.1644T>A (p.Ser548Arg) rs730881045
NM_005633.4(SOS1):c.1649T>C (p.Leu550Pro) rs397517153
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly) rs137852814
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys) rs397517154
NM_005633.4(SOS1):c.1655G>C (p.Arg552Thr) rs397517154
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1656G>T (p.Arg552Ser) rs267607079
NM_005633.4(SOS1):c.1867T>A (p.Phe623Ile) rs727505093
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His) rs727505381
NM_005633.4(SOS1):c.2183A>T (p.Lys728Ile) rs397517156
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe) rs574088829
NM_005633.4(SOS1):c.2536G>A (p.Glu846Lys) rs397517159
NM_005633.4(SOS1):c.3134C>G (p.Pro1045Arg) rs1668859370
NM_005633.4(SOS1):c.322G>A (p.Glu108Lys) rs397517164
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys) rs137852812
NM_005633.4(SOS1):c.806T>C (p.Met269Thr) rs137852813
NM_005633.4(SOS1):c.806T>G (p.Met269Arg) rs137852813
NM_005633.4(SOS1):c.925G>T (p.Asp309Tyr) rs397517180
NM_005676.5(RBM10):c.1235G>A (p.Trp412Ter) rs267607000
NM_005676.5(RBM10):c.1249-1G>A rs1556778986
NM_005676.5(RBM10):c.159del (p.Lys54fs) rs1556770954
NM_005676.5(RBM10):c.1722C>G (p.Tyr574Ter) rs375207660
NM_005676.5(RBM10):c.1804_1805del (p.Ser602fs) rs1935600115
NM_005676.5(RBM10):c.1893dup (p.Pro632fs) rs886044715
NM_005676.5(RBM10):c.1993_1996del (p.Gln665fs)
NM_005676.5(RBM10):c.373G>T (p.Glu125Ter) rs2147136759
NM_005676.5(RBM10):c.448C>T (p.Gln150Ter) rs886044718
NM_005676.5(RBM10):c.724+2T>C rs1602582334
NM_005733.3(KIF20A):c.1909del (p.Tyr637fs) rs2151233812
NM_005795.6(CALCRL):c.611TAG[1] (p.Val205del) rs1574226259
NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu) rs104894375
NM_005901.6(SMAD2):c.1082A>C (p.Asn361Thr) rs2144290354
NM_005901.6(SMAD2):c.1163A>G (p.Gln388Arg) rs746828424
NM_005901.6(SMAD2):c.1346T>C (p.Leu449Ser) rs2144276501
NM_005901.6(SMAD2):c.1369G>A (p.Gly457Arg) rs2144276285
NM_005901.6(SMAD2):c.237-12A>G rs1402819968
NM_005901.6(SMAD2):c.475G>T (p.Glu159Ter) rs1064793873
NM_005901.6(SMAD2):c.612dup (p.Asn205Ter) rs2144373131
NM_005901.6(SMAD2):c.748_754del (p.Ser250fs)
NM_005901.6(SMAD2):c.784+1G>A rs397509416
NM_005901.6(SMAD2):c.822G>C (p.Trp274Cys) rs367537998
NM_005901.6(SMAD2):c.833C>T (p.Ala278Val) rs2144300734
NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser) rs797044882
NM_005902.4(SMAD3):c.1008del (p.Gly337fs)
NM_005902.4(SMAD3):c.1009G>T (p.Gly337Ter) rs1567002115
NM_005902.4(SMAD3):c.1010-2A>G
NM_005902.4(SMAD3):c.1031_1032insT (p.Asn345fs)
NM_005902.4(SMAD3):c.1081G>T (p.Glu361Ter) rs387906856
NM_005902.4(SMAD3):c.1086_1098dup (p.Thr367fs) rs1555414236
NM_005902.4(SMAD3):c.1087_1090del (p.Val363fs)
NM_005902.4(SMAD3):c.109del (p.Ser37fs)
NM_005902.4(SMAD3):c.1102C>T (p.Arg368Ter) rs757106110
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys) rs863223746
NM_005902.4(SMAD3):c.1118G>A (p.Arg373His) rs1060500766
NM_005902.4(SMAD3):c.1139G>A (p.Trp380Ter)
NM_005902.4(SMAD3):c.1141G>T (p.Gly381Ter) rs2140323765
NM_005902.4(SMAD3):c.1153A>G (p.Arg385Gly) rs886038836
NM_005902.4(SMAD3):c.1153dup (p.Arg385fs) rs1567003613
NM_005902.4(SMAD3):c.1154+1G>A rs2140323831
NM_005902.4(SMAD3):c.1166_1167del (p.Val389fs) rs1595965925
NM_005902.4(SMAD3):c.1178_1179del (p.Pro393fs) rs1595965945
NM_005902.4(SMAD3):c.1179dup (p.Cys394fs) rs1595965945
NM_005902.4(SMAD3):c.1217G>A (p.Trp406Ter) rs2140327860
NM_005902.4(SMAD3):c.1246dup (p.Ser416fs)
NM_005902.4(SMAD3):c.1250C>T (p.Pro417Leu) rs1963334413
NM_005902.4(SMAD3):c.1262_1265dup (p.Ser423fs) rs2140328010
NM_005902.4(SMAD3):c.1266del (p.Ser423fs) rs2140328026
NM_005902.4(SMAD3):c.1268G>A (p.Ser423Asn) rs1555414503
NM_005902.4(SMAD3):c.1274C>G (p.Ser425Cys) rs2140328050
NM_005902.4(SMAD3):c.138del (p.Gln47fs) rs1555405108
NM_005902.4(SMAD3):c.154G>T (p.Glu52Ter) rs863223762
NM_005902.4(SMAD3):c.1A>C (p.Met1Leu) rs1555405092
NM_005902.4(SMAD3):c.1A>G (p.Met1Val) rs1555405092
NM_005902.4(SMAD3):c.1A>T (p.Met1Leu) rs1555405092
NM_005902.4(SMAD3):c.207-10_280delinsA
NM_005902.4(SMAD3):c.21del (p.Phe7fs) rs1693718752
NM_005902.4(SMAD3):c.221G>A (p.Arg74Gln) rs1566991387
NM_005902.4(SMAD3):c.229del (p.Val77fs)
NM_005902.4(SMAD3):c.246_247dup (p.Leu83fs) rs1555412070
NM_005902.4(SMAD3):c.246dup (p.Leu83fs) rs1555412069
NM_005902.4(SMAD3):c.266GCC[3] (p.Arg90dup) rs1595941653
NM_005902.4(SMAD3):c.269G>A (p.Arg90His) rs886038803
NM_005902.4(SMAD3):c.271C>T (p.Leu91=)
NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer) rs863223756
NM_005902.4(SMAD3):c.276G>A (p.Trp92Ter) rs2140293906
NM_005902.4(SMAD3):c.276G>C (p.Trp92Cys)
NM_005902.4(SMAD3):c.278G>A (p.Arg93Gln) rs863223765
NM_005902.4(SMAD3):c.281G>A (p.Trp94Ter) rs1057518977
NM_005902.4(SMAD3):c.29dup (p.Ile11fs)
NM_005902.4(SMAD3):c.313del (p.Ala105fs) rs587776882
NM_005902.4(SMAD3):c.335C>T (p.Ala112Val) rs387906854
NM_005902.4(SMAD3):c.363C>A (p.Cys121Ter)
NM_005902.4(SMAD3):c.364G>A (p.Val122Met) rs587782977
NM_005902.4(SMAD3):c.381C>A (p.Tyr127Ter)
NM_005902.4(SMAD3):c.382C>T (p.Gln128Ter) rs2140294260
NM_005902.4(SMAD3):c.3G>A (p.Met1Ile) rs2140188685
NM_005902.4(SMAD3):c.401-6G>A rs745672741
NM_005902.4(SMAD3):c.427_431del (p.His143fs) rs1060500773
NM_005902.4(SMAD3):c.445_455del (p.Glu149fs) rs2140294805
NM_005902.4(SMAD3):c.455del (p.Pro152fs) rs863223759
NM_005902.4(SMAD3):c.492dup (p.Asn165Ter) rs863223760
NM_005902.4(SMAD3):c.517del (p.Gln173fs) rs1595942351
NM_005902.4(SMAD3):c.545dup (p.Gly183fs) rs1291288543
NM_005902.4(SMAD3):c.546del (p.Gly183fs) rs1962602493
NM_005902.4(SMAD3):c.546dup (p.Gly183fs)
NM_005902.4(SMAD3):c.54del (p.Gly17_Trp18insTer) rs1064794789
NM_005902.4(SMAD3):c.552C>G (p.Tyr184Ter) rs1962602688
NM_005902.4(SMAD3):c.5C>A (p.Ser2Ter) rs1006530719
NM_005902.4(SMAD3):c.626del (p.Pro209fs)
NM_005902.4(SMAD3):c.653del (p.Asn218fs) rs587776881
NM_005902.4(SMAD3):c.65_71dup (p.Asn24fs) rs2140188825
NM_005902.4(SMAD3):c.668del (p.Pro223fs) rs1595956416
NM_005902.4(SMAD3):c.695G>A (p.Trp232Ter)
NM_005902.4(SMAD3):c.702dup (p.Ile235fs)
NM_005902.4(SMAD3):c.714C>A (p.Tyr238Ter)
NM_005902.4(SMAD3):c.715G>A (p.Glu239Lys) rs387906853
NM_005902.4(SMAD3):c.727C>T (p.Arg243Cys) rs886039137
NM_005902.4(SMAD3):c.733G>A (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.733G>C (p.Gly245Arg) rs863223737
NM_005902.4(SMAD3):c.736del (p.Glu246fs) rs1595956538
NM_005902.4(SMAD3):c.741_742del (p.Phe248fs) rs587776880
NM_005902.4(SMAD3):c.745del (p.His249fs) rs2140314073
NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter) rs1566999458
NM_005902.4(SMAD3):c.770_771del (p.Val257fs)
NM_005902.4(SMAD3):c.770_809del (p.Val257fs)
NM_005902.4(SMAD3):c.782C>T (p.Thr261Ile) rs387906851
NM_005902.4(SMAD3):c.783del (p.Asp262fs)
NM_005902.4(SMAD3):c.785A>T (p.Asp262Val) rs2140314210
NM_005902.4(SMAD3):c.787C>G (p.Pro263Ala) rs863223739
NM_005902.4(SMAD3):c.788C>T (p.Pro263Leu) rs387906855
NM_005902.4(SMAD3):c.797C>A (p.Ser266Ter) rs753486471
NM_005902.4(SMAD3):c.801_802delinsTT (p.Glu267_Arg268delinsAspCys) rs1555413579
NM_005902.4(SMAD3):c.802C>T (p.Arg268Cys) rs794727798
NM_005902.4(SMAD3):c.803G>A (p.Arg268His) rs863223740
NM_005902.4(SMAD3):c.82G>T (p.Glu28Ter) rs863223750
NM_005902.4(SMAD3):c.836G>A (p.Arg279Lys) rs387906852
NM_005902.4(SMAD3):c.851_864del (p.Glu284fs) rs1566999621
NM_005902.4(SMAD3):c.859C>T (p.Arg287Trp) rs387906850
NM_005902.4(SMAD3):c.860G>A (p.Arg287Gln) rs730880214
NM_005902.4(SMAD3):c.862_869dup (p.Gly291fs) rs2140314457
NM_005902.4(SMAD3):c.867_868dup (p.Ile290fs)
NM_005902.4(SMAD3):c.871+1G>A rs1595956832
NM_005902.4(SMAD3):c.871+2T>C rs863223761
NM_005902.4(SMAD3):c.871G>T (p.Gly291Ter) rs730880215
NM_005902.4(SMAD3):c.872G>T (p.Gly291Val) rs1555413991
NM_005902.4(SMAD3):c.874del (p.Arg292fs) rs1595960347
NM_005902.4(SMAD3):c.881dup (p.Arg295fs)
NM_005902.4(SMAD3):c.891C>G (p.Tyr297Ter)
NM_005902.4(SMAD3):c.903_904dup (p.Glu302fs) rs1060500770
NM_005902.4(SMAD3):c.904del (p.Glu302fs) rs1060500770
NM_005902.4(SMAD3):c.942del (p.Phe314fs) rs863223768
NM_005902.4(SMAD3):c.946C>T (p.Gln316Ter) rs1595960447
NM_005902.4(SMAD3):c.960_972delinsGACACC (p.Cys320fs) rs1567002059
NM_005902.4(SMAD3):c.964C>T (p.Gln322Ter) rs1963178887
NM_005902.4(SMAD3):c.974dup (p.Trp326fs)
NM_005902.4(SMAD3):c.988del (p.Thr330fs) rs2140320169
NM_005902.4(SMAD3):c.990dup (p.Val331fs) rs863223754
NM_005921.2(MAP3K1):c.1016G>A (p.Arg339Gln) rs1554034036
NM_005921.2(MAP3K1):c.1348A>G (p.Met450Val)
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.556A>G (p.Arg186Gly) rs1579750361
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_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) rs1057518741
NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) rs1057518739
NM_005932.4(MIPEP):c.1804G>T (p.Glu602Ter) rs114638163
NM_005932.4(MIPEP):c.212T>A (p.Leu71Gln) rs1057518740
NM_005932.4(MIPEP):c.787-51_993-181del
NM_006003.3(UQCRFS1):c.215-1G>C rs1568344751
NM_006003.3(UQCRFS1):c.41T>A (p.Val14Asp) rs1568346416
NM_006003.3(UQCRFS1):c.610C>T (p.Arg204Ter) rs1242465339
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys) rs587784483
NM_006073.4(TRDN):c.167T>C (p.Leu56Pro) rs1060502116
NM_006073.4(TRDN):c.176C>G (p.Thr59Arg) rs397515459
NM_006073.4(TRDN):c.22+1G>T rs1290195833
NM_006073.4(TRDN):c.232+2T>A rs1554258777
NM_006073.4(TRDN):c.232+2T>C
NM_006073.4(TRDN):c.2T>C (p.Met1Thr)
NM_006073.4(TRDN):c.334del (p.Asp112fs)
NM_006073.4(TRDN):c.423del (p.Glu142fs) rs757805966
NM_006073.4(TRDN):c.424G>T (p.Glu142Ter)
NM_006073.4(TRDN):c.438_442del (p.Asp146_Lys147insTer) rs752256846
NM_006073.4(TRDN):c.439_440del (p.Lys147fs) rs2114339116
NM_006073.4(TRDN):c.451C>T (p.Gln151Ter)
NM_006073.4(TRDN):c.483del (p.Val162fs)
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter) rs545032318
NM_006073.4(TRDN):c.507dup (p.Gly170fs)
NM_006073.4(TRDN):c.508G>T (p.Gly170Ter)
NM_006073.4(TRDN):c.531del (p.Glu178fs) rs1432170970
NM_006073.4(TRDN):c.532_533del (p.Glu178fs)
NM_006073.4(TRDN):c.53_56del (p.Asp18fs) rs768049331
NM_006073.4(TRDN):c.568dup (p.Ile190fs) rs1085307100
NM_006073.4(TRDN):c.573dup (p.Lys192fs) rs1554251609
NM_006073.4(TRDN):c.618del (p.Ala208fs) rs1060502114
NM_006073.4(TRDN):c.91del (p.Val31fs) rs2114537918
NM_006079.5(CITED2):c.510_536del (p.163GSSTPGGSG[1]) rs779637348
NM_006079.5(CITED2):c.581GCGGCA[2] (p.196SG[1]) rs531316452
NM_006172.4(NPPA):c.456_*1del (p.Ter152TrpextTer?) rs587776851
NM_006208.3(ENPP1):c.1025G>T (p.Gly342Val) rs121918025
NM_006208.3(ENPP1):c.1072_1082del (p.Gln358fs) rs1554203715
NM_006208.3(ENPP1):c.1094del (p.Pro365fs) rs2114706946
NM_006208.3(ENPP1):c.1112A>T (p.Tyr371Phe) rs121918026
NM_006208.3(ENPP1):c.1273+2T>C rs2114710332
NM_006208.3(ENPP1):c.1612G>C (p.Asp538His) rs387906673
NM_006208.3(ENPP1):c.196_197del (p.Ala66fs) rs2114643507
NM_006208.3(ENPP1):c.208A>T (p.Lys70Ter) rs1167413684
NM_006208.3(ENPP1):c.2101-2A>T rs1585841844
NM_006208.3(ENPP1):c.2192del (p.Asn731fs) rs2114726975
NM_006208.3(ENPP1):c.2230+1G>A
NM_006208.3(ENPP1):c.2230+5G>A
NM_006208.3(ENPP1):c.2230C>T (p.Gln744Ter) rs2114727013
NM_006208.3(ENPP1):c.2300del (p.Gln767fs) rs2114728448
NM_006208.3(ENPP1):c.2664del (p.Ile889fs) rs2114737043
NM_006208.3(ENPP1):c.2677G>T (p.Glu893Ter) rs121918023
NM_006208.3(ENPP1):c.26dup (p.Gly10fs) rs1470739291
NM_006208.3(ENPP1):c.2741T>A (p.Leu914Ter) rs751725130
NM_006208.3(ENPP1):c.511A>T (p.Lys171Ter) rs1805101
NM_006208.3(ENPP1):c.556G>C (p.Gly186Arg) rs1781877793
NM_006208.3(ENPP1):c.574del (p.Glu192fs) rs1234826768
NM_006208.3(ENPP1):c.783C>G (p.Tyr261Ter) rs267606784
NM_006208.3(ENPP1):c.795+1G>A rs753851892
NM_006208.3(ENPP1):c.797G>T (p.Gly266Val) rs121908248
NM_006208.3(ENPP1):c.878_879del (p.Lys293fs) rs1401810953
NM_006208.3(ENPP1):c.915+1G>A rs2114702198
NM_006208.3:c.(1091+1_1092-1)_(1164+1_1165-1)del
NM_006218.4(PIK3CA):c.1034A>C (p.Asn345Thr) rs1057519938
NM_006218.4(PIK3CA):c.1093G>A (p.Glu365Lys) rs1064793732
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg) rs1724507777
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006218.4(PIK3CA):c.2816A>G (p.Asp939Gly) rs2108424902
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.3202_3205delinsCTGATAACTGAGAAAATAACTGATAAAATGAAACTGA (p.Asn1068_Ter1069delinsLeuIleThrGluLysIleThrAspLysMetLysLeuArg) rs2108430158
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006258.4(PRKG1):c.575G>A (p.Arg192Gln) rs397515330
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_006513.4(SARS1):c.971T>C (p.Ile324Thr) rs1553178399
NM_006554.5(MTX2):c.295_296del (p.Ser98_Leu99insTer) rs768727228
NM_006587.4(CORIN):c.1414A>G (p.Ser472Gly) rs387906895
NM_006587.4(CORIN):c.684dup (p.Met229fs) rs756399499
NM_006587.4(CORIN):c.949A>G (p.Lys317Glu) rs387906894
NM_006663.4(PPP1R13L):c.736_764del (p.Pro246fs) rs1973093514
NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]
NM_006766.5(KAT6A):c.1133C>G (p.Ser378Ter) rs2150886525
NM_006766.5(KAT6A):c.1146_1147insG (p.Tyr383fs) rs2150886504
NM_006766.5(KAT6A):c.1312C>T (p.Arg438Ter) rs2150886359
NM_006766.5(KAT6A):c.1405C>T (p.Arg469Ter) rs2150884950
NM_006766.5(KAT6A):c.1663del (p.Gln555fs) rs1822554467
NM_006766.5(KAT6A):c.1903-5_1903-2del rs1587727050
NM_006766.5(KAT6A):c.1928A>G (p.Asn643Ser) rs1822412202
NM_006766.5(KAT6A):c.2218del (p.Arg740fs) rs1587723169
NM_006766.5(KAT6A):c.2463del (p.Asn821fs) rs1661324893
NM_006766.5(KAT6A):c.2927del (p.Gly976fs)
NM_006766.5(KAT6A):c.3034C>T (p.Arg1012Ter) rs768856558
NM_006766.5(KAT6A):c.3039+1G>A rs1554681382
NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter) rs786200961
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer) rs786200959
NM_006766.5(KAT6A):c.3306del (p.Lys1103fs) rs1587713892
NM_006766.5(KAT6A):c.3318_3319insCT (p.Glu1107fs) rs1587713866
NM_006766.5(KAT6A):c.3344_3350del (p.Asp1115fs)
NM_006766.5(KAT6A):c.3377del (p.Ser1126fs)
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter) rs786200960
NM_006766.5(KAT6A):c.3399_3400dup (p.Lys1134fs)
NM_006766.5(KAT6A):c.3443del (p.Lys1148fs) rs1554680245
NM_006766.5(KAT6A):c.3631_3632del (p.Thr1210_Val1211insTer)
NM_006766.5(KAT6A):c.3661G>T (p.Glu1221Ter) rs139494583
NM_006766.5(KAT6A):c.376A>T (p.Lys126Ter) rs755669455
NM_006766.5(KAT6A):c.3820G>T (p.Glu1274Ter)
NM_006766.5(KAT6A):c.3824_3828del (p.Glu1275fs)
NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs) rs786200952
NM_006766.5(KAT6A):c.4038del (p.Val1347fs) rs1564005155
NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter) rs138944476
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs) rs1554679889
NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs) rs1057516049
NM_006766.5(KAT6A):c.4398_4399del (p.Gln1467fs) rs2150856163
NM_006766.5(KAT6A):c.4945C>T (p.Gln1649Ter) rs1821661078
NM_006766.5(KAT6A):c.4980del (p.Gln1660fs)
NM_006766.5(KAT6A):c.5505_5506del (p.Asn1836fs)
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter) rs1395351821
NM_006766.5(KAT6A):c.805C>T (p.Arg269Ter) rs1564039543
NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter) rs1564038539
NM_006766.5(KAT6A):c.907+1del rs1564038389
NM_006766.5(KAT6A):c.931C>T (p.Arg311Ter) rs1064793721
NM_006766.5(KAT6A):c.949C>T (p.Arg317Ter) rs1554688879
NM_006766.5:c.3411del rs2150857178
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1605C>A (p.Tyr535Ter) rs753347937
NM_006767.4(LZTR1):c.1676T>A (p.Leu559Ter)
NM_006767.4(LZTR1):c.1785+1G>C rs145594158
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter) rs1034395178
NM_006767.4(LZTR1):c.2264G>A (p.Arg755Gln) rs762834512
NM_006767.4(LZTR1):c.2501_2502del (p.Ala834fs) rs2147971083
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.361C>G (p.His121Asp) rs1569154492
NM_006767.4(LZTR1):c.401-1G>A
NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn) rs797045166
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu) rs730882253
NM_006888.6(CALM1):c.286G>T (p.Asp96Tyr)
NM_006888.6(CALM1):c.293A>G (p.Asn98Ser) rs267607277
NM_006888.6(CALM1):c.389A>G (p.Asp130Gly) rs730882252
NM_006888.6(CALM1):c.394G>A (p.Asp132Asn) rs1595102640
NM_006888.6(CALM1):c.395A>G (p.Asp132Gly) rs1887113791
NM_006888.6(CALM1):c.395A>T (p.Asp132Val) rs1887113791
NM_006888.6(CALM1):c.422A>G (p.Glu141Gly) rs1887120112
NM_006888.6(CALM1):c.422A>T (p.Glu141Val) rs1887120112
NM_006888.6(CALM1):c.424T>C (p.Phe142Leu) rs1085307479
NM_006888.6(CALM1):c.426C>A (p.Phe142Leu) rs199744595
NM_006888.6(CALM1):c.426C>G (p.Phe142Leu) rs199744595
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006912.6(RIT1):c.229G>C (p.Ala77Pro) rs869025191
NM_006912.6(RIT1):c.229G>T (p.Ala77Ser) rs869025191
NM_006912.6(RIT1):c.230C>G (p.Ala77Gly) rs1673399238
NM_006912.6(RIT1):c.241G>C (p.Glu81Gln) rs869025192
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly) rs869025193
NM_006912.6(RIT1):c.244T>A (p.Phe82Ile) rs869025194
NM_006912.6(RIT1):c.244T>C (p.Phe82Leu) rs869025194
NM_006912.6(RIT1):c.244T>G (p.Phe82Val) rs869025194
NM_006912.6(RIT1):c.245T>C (p.Phe82Ser) rs868208063
NM_006912.6(RIT1):c.245T>G (p.Phe82Cys) rs868208063
NM_006912.6(RIT1):c.246T>A (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu) rs730881014
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro) rs869025195
NM_006912.6(RIT1):c.259G>C (p.Asp87His) rs886041414
NM_006912.6(RIT1):c.265T>C (p.Tyr89His) rs869025197
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
NM_006912.6(RIT1):c.270G>A (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>C (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.270G>T (p.Met90Ile) rs483352822
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala) rs672601335
NM_006912.6(RIT1):c.365G>T (p.Arg122Leu) rs777520196
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln) rs869312687
NM_006912.6(RIT1):c.67A>G (p.Lys23Glu) rs869312687
NM_006912.6(RIT1):c.69A>C (p.Lys23Asn) rs1557962794
NM_006912.6(RIT1):c.91G>C (p.Gly31Arg) rs1571999498
NM_006939.4(SOS2):c.1126A>T (p.Thr376Ser) rs1594982548
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.1291G>A (p.Glu431Lys)
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_006939.4(SOS2):c.800T>C (p.Met267Thr) rs797045167
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)
NM_007078.3(LDB3):c.1035C>G (p.Ile345Met) rs121908336
NM_007078.3(LDB3):c.1723T>A (p.Phe575Ile) rs1846937833
NM_007078.3(LDB3):c.1818T>A (p.Phe606Leu) rs1846942383
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_012082.4(ZFPM2):c.2209A>G (p.Lys737Glu) rs397514521
NM_012082.4(ZFPM2):c.681T>G (p.Ile227Met) rs397514520
NM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter) rs1195263093
NM_012193.4(FZD4):c.1005G>C (p.Trp335Cys) rs80358292
NM_012193.4(FZD4):c.1024A>G (p.Met342Val) rs80358293
NM_012193.4(FZD4):c.1273del (p.Thr425fs)
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs) rs80358295
NM_012193.4(FZD4):c.1479_1484del (p.Met493_Trp494del) rs80358301
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) rs80358303
NM_012193.4(FZD4):c.173A>G (p.Tyr58Cys)
NM_012193.4(FZD4):c.244_245delinsG (p.Phe82fs)
NM_012200.4(B3GAT3):c.126_154dup (p.Ser52delinsCysSerTyrGlyArgArgIleTer)
NM_012200.4(B3GAT3):c.135del (p.Gln46fs)
NM_012200.4(B3GAT3):c.150del (p.Ile51fs)
NM_012200.4(B3GAT3):c.283C>T (p.Arg95Ter) rs750685646
NM_012200.4(B3GAT3):c.298_301del (p.Leu100fs)
NM_012200.4(B3GAT3):c.334G>T (p.Glu112Ter)
NM_012200.4(B3GAT3):c.36C>A (p.Tyr12Ter)
NM_012200.4(B3GAT3):c.516_517insT (p.Gly173fs) rs1554968726
NM_012200.4(B3GAT3):c.604G>T (p.Glu202Ter)
NM_012200.4(B3GAT3):c.830G>A (p.Arg277Gln) rs387906937
NM_012205.3(HAAO):c.128G>A (p.Arg43Lys) rs1672558841
NM_012205.3(HAAO):c.141C>A (p.His47Gln) rs746702852
NM_012205.3(HAAO):c.301G>T (p.Gly101Trp) rs1672152382
NM_012205.3(HAAO):c.43del (p.Arg15fs) rs1558680405
NM_012205.3(HAAO):c.558G>A (p.Trp186Ter) rs1135401743
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_012250.6(RRAS2):c.65_73dup (p.Gly22_Gly24dup) rs1591495776
NM_012250.6(RRAS2):c.67G>T (p.Gly23Cys) rs2134048726
NM_012250.6(RRAS2):c.68G>A (p.Gly23Asp) rs1591495779
NM_012250.6(RRAS2):c.68G>T (p.Gly23Val) rs1591495779
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup) rs1591495767
NM_012330.4(KAT6B):c.5040C>G (p.Tyr1680Ter) rs369027010
NM_012337.3(CFAP45):c.1472_1477delinsT (p.Gln491fs) rs2101839185
NM_012337.3(CFAP45):c.452_464del (p.Gln151fs) rs2101848342
NM_012337.3(CFAP45):c.721C>T (p.Gln241Ter) rs2101847449
NM_012338.4(TSPAN12):c.176_179del (p.Tyr59fs) rs1278815943
NM_012338.4(TSPAN12):c.212_218dup (p.Phe73fs) rs1554403626
NM_012338.4(TSPAN12):c.285+1G>A rs587777285
NM_012338.4(TSPAN12):c.302T>A (p.Leu101His) rs267607152
NM_012338.4(TSPAN12):c.345T>G (p.Tyr115Ter) rs1437503069
NM_012338.4(TSPAN12):c.361-5_361-1del rs794726655
NM_012338.4(TSPAN12):c.413A>G (p.Tyr138Cys) rs587777283
NM_012338.4(TSPAN12):c.419T>A (p.Leu140Ter) rs267607153
NM_012338.4(TSPAN12):c.542G>T (p.Cys181Phe) rs878853243
NM_012338.4(TSPAN12):c.67-1G>C rs587777284
NM_012338.4(TSPAN12):c.709G>C (p.Ala237Pro) rs267607154
NM_012464.5(TLL1):c.1379-2A>G rs1579663872
NM_012464.5(TLL1):c.1885A>G (p.Ile629Val) rs137852953
NM_012464.5(TLL1):c.544A>C (p.Met182Leu) rs137852951
NM_013266.4(CTNNA3):c.2293TTG[1] (p.Leu766del) rs587777135
NM_013266.4(CTNNA3):c.281T>A (p.Val94Asp) rs587777134
NM_013352.4(DSE):c.799A>G (p.Arg267Gly) rs1554227382
NM_013352.4(DSE):c.803C>T (p.Ser268Leu) rs398122361
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014140.4(SMARCAL1):c.723C>A (p.Cys241Ter) rs748106387
NM_014243.3(ADAMTS3):c.872T>C (p.Ile291Thr) rs61757480
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) rs1555196298
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.1342G>C (p.Gly448Arg)
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_014989.7(RIMS1):c.3194+1G>A rs1057519205
NM_015072.5(TTLL5):c.1560dup (p.Asp521Ter) rs1400806789
NM_015103.3(PLXND1):c.2733C>G (p.Ile911Met)
NM_015103.3(PLXND1):c.3895C>T (p.Arg1299Cys)
NM_015103.3(PLXND1):c.5323A>T (p.Ile1775Phe)
NM_015103.3(PLXND1):c.652A>T (p.Ser218Cys)
NM_015103.3(PLXND1):c.880_881del (p.Gln294fs)
NM_015160.3(PMPCA):c.1066G>A (p.Gly356Ser) rs768643552
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) rs753611141
NM_015335.4(MED13L):c.3519_3521delinsT (p.Tyr1174fs) rs1565997261
NM_015335.4(MED13L):c.516_517delinsAT (p.His172_Gly173delinsGlnTer) rs1555250044
NM_015335.5(MED13L):c.1077_1093del (p.Met359fs) rs1879651226
NM_015335.5(MED13L):c.1135C>T (p.Arg379Ter)
NM_015335.5(MED13L):c.124dup (p.Asp42fs) rs869312875
NM_015335.5(MED13L):c.1405dup (p.Thr469fs) rs2137386388
NM_015335.5(MED13L):c.1486G>T (p.Glu496Ter)
NM_015335.5(MED13L):c.1496dup (p.Met499fs) rs1879220710
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter) rs1555247936
NM_015335.5(MED13L):c.1708_1709del (p.Ser570fs) rs869025286
NM_015335.5(MED13L):c.1744del (p.Leu582fs)
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs) rs1555247853
NM_015335.5(MED13L):c.1994_1997del (p.Glu665fs) rs1555247800
NM_015335.5(MED13L):c.1A>G (p.Met1Val) rs1131691818
NM_015335.5(MED13L):c.2059C>T (p.Gln687Ter) rs1555247699
NM_015335.5(MED13L):c.2065C>T (p.Gln689Ter) rs1592940794
NM_015335.5(MED13L):c.2071C>T (p.Gln691Ter) rs2137378964
NM_015335.5(MED13L):c.2107C>T (p.Gln703Ter) rs1555247672
NM_015335.5(MED13L):c.2110C>T (p.Gln704Ter)
NM_015335.5(MED13L):c.2316_2317del (p.Met772fs) rs1566005476
NM_015335.5(MED13L):c.2318del (p.Ser773fs) rs1879044510
NM_015335.5(MED13L):c.2320del (p.Ile774fs) rs2137373056
NM_015335.5(MED13L):c.2399dup (p.Thr801fs) rs1135401766
NM_015335.5(MED13L):c.2504del (p.Pro835fs) rs1555246952
NM_015335.5(MED13L):c.2579A>G (p.Asp860Gly) rs1555246154
NM_015335.5(MED13L):c.2590A>T (p.Met864Leu) rs886039599
NM_015335.5(MED13L):c.2597C>T (p.Pro866Leu) rs1555246145
NM_015335.5(MED13L):c.263G>A (p.Trp88Ter) rs1870202051
NM_015335.5(MED13L):c.278del (p.Asn93fs)
NM_015335.5(MED13L):c.2911_2914del (p.Leu971fs) rs1064796611
NM_015335.5(MED13L):c.319dup (p.Glu107fs) rs2137899583
NM_015335.5(MED13L):c.3205C>T (p.Gln1069Ter) rs2137307819
NM_015335.5(MED13L):c.329G>A (p.Trp110Ter) rs2137899543
NM_015335.5(MED13L):c.3309del (p.Glu1105fs) rs2137307119
NM_015335.5(MED13L):c.3381del (p.Phe1128fs)
NM_015335.5(MED13L):c.3383_3384del (p.Asn1127_Phe1128insTer)
NM_015335.5(MED13L):c.3459del (p.Asn1154fs)
NM_015335.5(MED13L):c.3469C>T (p.Gln1157Ter) rs1555245108
NM_015335.5(MED13L):c.3765del (p.Cys1256fs) rs147976828
NM_015335.5(MED13L):c.3779del (p.Ser1260fs)
NM_015335.5(MED13L):c.395+1G>A rs1874072309
NM_015335.5(MED13L):c.4011_4024del (p.Ile1338fs)
NM_015335.5(MED13L):c.4041G>A (p.Trp1347Ter) rs2137290161
NM_015335.5(MED13L):c.4076G>A (p.Trp1359Ter) rs1592919048
NM_015335.5(MED13L):c.4077G>A (p.Trp1359Ter) rs1565995034
NM_015335.5(MED13L):c.4083del (p.Gln1361fs) rs1877748039
NM_015335.5(MED13L):c.4087del (p.His1363fs)
NM_015335.5(MED13L):c.4108_4114+3del
NM_015335.5(MED13L):c.4120del (p.Glu1374fs) rs1877698147
NM_015335.5(MED13L):c.4132G>T (p.Glu1378Ter)
NM_015335.5(MED13L):c.4213G>T (p.Glu1405Ter) rs2137287115
NM_015335.5(MED13L):c.4271_4276delinsTTCCC (p.Cys1424fs) rs1877686983
NM_015335.5(MED13L):c.4289_4290delinsAA (p.Leu1430Ter) rs1877685759
NM_015335.5(MED13L):c.4403dup (p.Thr1470fs) rs1131691764
NM_015335.5(MED13L):c.4417C>T (p.Gln1473Ter) rs1877535811
NM_015335.5(MED13L):c.4452del (p.Phe1484fs) rs1555243582
NM_015335.5(MED13L):c.4539_4542del (p.Pro1512_Tyr1513insTer)
NM_015335.5(MED13L):c.4622del (p.Thr1541fs) rs1877476585
NM_015335.5(MED13L):c.4715del (p.Asn1572fs)
NM_015335.5(MED13L):c.4716del (p.Pro1573fs) rs1064796113
NM_015335.5(MED13L):c.475A>T (p.Lys159Ter)
NM_015335.5(MED13L):c.480-1G>T rs869025288
NM_015335.5(MED13L):c.4956-2A>C rs1057518705
NM_015335.5(MED13L):c.4975_4976insC (p.Ile1659fs) rs1877403231
NM_015335.5(MED13L):c.5005G>A (p.Asp1669Asn)
NM_015335.5(MED13L):c.5152_5153del (p.Met1718fs) rs1555243059
NM_015335.5(MED13L):c.5173C>T (p.Gln1725Ter) rs1135401765
NM_015335.5(MED13L):c.5244_5248dup (p.Met1750fs) rs2137264830
NM_015335.5(MED13L):c.5278C>T (p.Arg1760Ter) rs886041448
NM_015335.5(MED13L):c.5364+1dup rs1877270718
NM_015335.5(MED13L):c.541_556delinsA (p.Val181_His186delinsAsn) rs2137446876
NM_015335.5(MED13L):c.5444del (p.Thr1815fs) rs879255407
NM_015335.5(MED13L):c.5502del (p.His1834fs) rs1565987758
NM_015335.5(MED13L):c.5562C>A (p.Cys1854Ter) rs139063441
NM_015335.5(MED13L):c.5588+1G>A rs1135401810
NM_015335.5(MED13L):c.5698C>T (p.Arg1900Ter) rs1876853109
NM_015335.5(MED13L):c.5766_5769del (p.Thr1923fs)
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs) rs1876629983
NM_015335.5(MED13L):c.5818del (p.Ala1940fs)
NM_015335.5(MED13L):c.5941C>T (p.Gln1981Ter) rs2137223723
NM_015335.5(MED13L):c.5990dup (p.Leu1997fs) rs1876520009
NM_015335.5(MED13L):c.6017_6035del (p.Gln2006fs)
NM_015335.5(MED13L):c.601C>T (p.Gln201Ter) rs1029377279
NM_015335.5(MED13L):c.6039del (p.Asn2014fs)
NM_015335.5(MED13L):c.6118_6125del (p.Gly2040fs) rs869025287
NM_015335.5(MED13L):c.6195dup (p.Gly2066fs) rs2137216530
NM_015335.5(MED13L):c.6226-1G>C rs1876150289
NM_015335.5(MED13L):c.6234_6235del (p.Glu2079fs)
NM_015335.5(MED13L):c.6239dup (p.Leu2081fs)
NM_015335.5(MED13L):c.6260del (p.Pro2087fs) rs1565982697
NM_015335.5(MED13L):c.6280C>T (p.Pro2094Ser)
NM_015335.5(MED13L):c.6331del (p.Gln2111fs)
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met) rs869312707
NM_015335.5(MED13L):c.712G>T (p.Glu238Ter) rs1879953298
NM_015335.5(MED13L):c.747_748del (p.Lys250fs) rs1592953902
NM_015335.5(MED13L):c.760_1175+967del
NM_015965.7(NDUFA13):c.194del (p.Phe65fs) rs2061105702
NM_015978.3(TNNI3K):c.1577G>A (p.Gly526Asp) rs606231469
NM_015978.3(TNNI3K):c.1615A>G (p.Thr539Ala) rs1662479663
NM_015978.3(TNNI3K):c.333+2T>C rs762721434
NM_016203.4(PRKAG2):c.1006G>T (p.Val336Leu) rs727504707
NM_016203.4(PRKAG2):c.1007T>C (p.Val336Ala) rs2151024166
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.1453A>G (p.Lys485Glu)
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>A (p.Glu506Lys)
NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln) rs267606978
NM_016203.4(PRKAG2):c.1588C>G (p.His530Asp) rs1804721948
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.1592G>T (p.Arg531Leu) rs121908991
NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro) rs267606979
NM_016203.4(PRKAG2):c.869A>T (p.Lys290Ile) rs1808950153
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu) rs193922697
NM_016203.4(PRKAG2):c.905G>C (p.Arg302Pro) rs121908987
NM_016204.4(GDF2):c.1135del (p.Leu379fs) rs1259967380
NM_016204.4(GDF2):c.1185_1191delinsTG (p.Thr396fs)
NM_016204.4(GDF2):c.203G>T (p.Arg68Leu) rs200330818
NM_016204.4(GDF2):c.451C>T (p.Arg151Ter)
NM_016204.4(GDF2):c.641G>A (p.Trp214Ter)
NM_016204.4(GDF2):c.857dup (p.Leu287fs)
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp) rs35129734
NM_016358.3(IRX4):c.572C>T (p.Thr191Ile)
NM_016358.3(IRX4):c.71G>A (p.Ser24Asn)
NM_016474.5(CCDC174):c.1404A>G (p.Ter468Trp) rs869025342
NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro) rs199476398
NM_017617.5(NOTCH1):c.1342C>T (p.Arg448Ter) rs869025494
NM_017617.5(NOTCH1):c.2012_2013dup (p.Gly672fs)
NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter) rs1057515422
NM_017617.5(NOTCH1):c.3319C>T (p.Arg1107Ter) rs41309764
NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter) rs1057515423
NM_017617.5(NOTCH1):c.4512del (p.Cys1505fs) rs41309766
NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp) rs774966208
NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter) rs1554826746
NM_017617.5(NOTCH1):c.6348C>G (p.Tyr2116Ter) rs1057518661
NM_017636.4(TRPM4):c.1127T>C (p.Ile376Thr) rs2122839457
NM_017636.4(TRPM4):c.2741A>G (p.Lys914Arg) rs172151858
NM_017636.4(TRPM4):c.3119T>C (p.Ile1040Thr) rs1369949906
NM_017644.3(KLHL24):c.1048G>T (p.Glu350Ter)
NM_017644.3(KLHL24):c.917G>A (p.Arg306His)
NM_017780.4(CHD7):c.1037_1040del (p.Arg346fs) rs2150579872
NM_017780.4(CHD7):c.1037_1046del (p.Arg346fs)
NM_017780.4(CHD7):c.1058del (p.Phe353fs) rs1060503184
NM_017780.4(CHD7):c.1061del (p.Pro354fs) rs1554581501
NM_017780.4(CHD7):c.1073del (p.Gly358fs) rs886040980
NM_017780.4(CHD7):c.1090C>T (p.Gln364Ter) rs727503860
NM_017780.4(CHD7):c.1159C>T (p.Gln387Ter) rs2150580244
NM_017780.4(CHD7):c.1170T>G (p.Tyr390Ter) rs554737227
NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter) rs587783428
NM_017780.4(CHD7):c.1250_1259del (p.Ser417fs)
NM_017780.4(CHD7):c.1267del (p.Glu423fs) rs1809110580
NM_017780.4(CHD7):c.1294del (p.His432fs) rs1554581646
NM_017780.4(CHD7):c.1300C>T (p.Gln434Ter) rs1586251038
NM_017780.4(CHD7):c.1312C>T (p.Gln438Ter) rs1554581657
NM_017780.4(CHD7):c.1342_1343del (p.Arg448fs) rs1554581674
NM_017780.4(CHD7):c.1365dup (p.Gln456fs)
NM_017780.4(CHD7):c.1369C>T (p.Gln457Ter) rs727503861
NM_017780.4(CHD7):c.1446dup (p.Val483fs) rs2150581008
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter) rs587783429
NM_017780.4(CHD7):c.1488dup (p.Pro497fs) rs786204200
NM_017780.4(CHD7):c.1505del (p.Pro502fs) rs863224517
NM_017780.4(CHD7):c.1513C>T (p.Gln505Ter) rs1554581757
NM_017780.4(CHD7):c.1525C>T (p.Gln509Ter)
NM_017780.4(CHD7):c.1549_1553del (p.Leu517fs)
NM_017780.4(CHD7):c.1552C>T (p.Gln518Ter) rs1057519423
NM_017780.4(CHD7):c.1595del (p.Pro532fs)
NM_017780.4(CHD7):c.1603C>T (p.Gln535Ter) rs751709941
NM_017780.4(CHD7):c.1633C>T (p.Gln545Ter)
NM_017780.4(CHD7):c.1663C>T (p.Gln555Ter)
NM_017780.4(CHD7):c.1678dup (p.Glu560fs) rs797045461
NM_017780.4(CHD7):c.1697del (p.Pro566fs)
NM_017780.4(CHD7):c.1735C>T (p.Gln579Ter) rs780953224
NM_017780.4(CHD7):c.1774_1778del (p.Gln592fs) rs2150669316
NM_017780.4(CHD7):c.1803_1806del (p.Lys602fs) rs1554588671
NM_017780.4(CHD7):c.1808del (p.Asn603fs)
NM_017780.4(CHD7):c.1848del (p.Asp618fs) rs1811207509
NM_017780.4(CHD7):c.1871del (p.Val624fs) rs2150669574
NM_017780.4(CHD7):c.191_194del (p.Thr64fs) rs587783431
NM_017780.4(CHD7):c.1925del (p.Lys642fs) rs1554588712
NM_017780.4(CHD7):c.1931del (p.Lys644fs) rs2150669764
NM_017780.4(CHD7):c.1936dup (p.Arg646fs) rs2150669783
NM_017780.4(CHD7):c.1951_1952delinsT (p.Lys650_Lys651insTer) rs1563595095
NM_017780.4(CHD7):c.1952_1955del (p.Lys651fs) rs1563595101
NM_017780.4(CHD7):c.1953dup (p.Asp652fs) rs2150669843
NM_017780.4(CHD7):c.1977del (p.Lys660fs) rs2150669944
NM_017780.4(CHD7):c.1984_1985insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCCGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAACCCAAGGAGA (p.Lys662fs) rs2150669923
NM_017780.4(CHD7):c.1989dup (p.Glu664fs) rs2150669971
NM_017780.4(CHD7):c.2090del (p.Lys697fs) rs1563595385
NM_017780.4(CHD7):c.2096+1del rs2150670337
NM_017780.4(CHD7):c.2097-1G>C rs1060503182
NM_017780.4(CHD7):c.2097-2A>G rs2150697457
NM_017780.4(CHD7):c.2129del (p.Ala709_Leu710insTer) rs2150697555
NM_017780.4(CHD7):c.2189dup (p.Pro731fs) rs2150697787
NM_017780.4(CHD7):c.2195del (p.Pro732fs) rs1586341138
NM_017780.4(CHD7):c.2195dup (p.Pro733fs) rs1586341138
NM_017780.4(CHD7):c.2196dup (p.Pro733fs) rs2150697832
NM_017780.4(CHD7):c.2215G>T (p.Glu739Ter) rs886040981
NM_017780.4(CHD7):c.2229_2230insCC (p.Gly744fs) rs1563607193
NM_017780.4(CHD7):c.2238+1G>A rs1811957737
NM_017780.4(CHD7):c.2239-16T>A
NM_017780.4(CHD7):c.2239-20_2239-6del rs2150708627
NM_017780.4(CHD7):c.2257C>T (p.Gln753Ter) rs1586350727
NM_017780.4(CHD7):c.2289_2290insT (p.Glu764Ter) rs2150708828
NM_017780.4(CHD7):c.2295del (p.Phe765fs) rs1586350854
NM_017780.4(CHD7):c.2321dup (p.Asp774fs) rs2150708918
NM_017780.4(CHD7):c.232C>T (p.Gln78Ter) rs2150577671
NM_017780.4(CHD7):c.2440C>T (p.Gln814Ter) rs1554593049
NM_017780.4(CHD7):c.2442+2449_2498+259del
NM_017780.4(CHD7):c.2442+5G>C rs387906271
NM_017780.4(CHD7):c.2452_2462del (p.Gly818fs) rs1563618176
NM_017780.4(CHD7):c.2495del (p.Asn832fs) rs2150723965
NM_017780.4(CHD7):c.2501C>T (p.Ser834Phe) rs121434344
NM_017780.4(CHD7):c.2502_2509dup (p.His837fs) rs797045463
NM_017780.4(CHD7):c.2503dup (p.Tyr835fs)
NM_017780.4(CHD7):c.2504_2508del (p.Tyr835fs) rs886040982
NM_017780.4(CHD7):c.2520G>A (p.Trp840Ter) rs1586379156
NM_017780.4(CHD7):c.2568del (p.Lys857fs) rs1060503181
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter) rs1563625351
NM_017780.4(CHD7):c.2587C>T (p.Gln863Ter) rs2150739058
NM_017780.4(CHD7):c.2613+1G>A rs587783432
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter) rs797045465
NM_017780.4(CHD7):c.2643T>A (p.Tyr881Ter)
NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter) rs587783433
NM_017780.4(CHD7):c.2684del (p.Asp895fs)
NM_017780.4(CHD7):c.2700del (p.Pro900_Val901insTer) rs1586389286
NM_017780.4(CHD7):c.2707_2710del (p.His903fs) rs2150748709
NM_017780.4(CHD7):c.2710dup (p.Tyr904fs) rs1586389310
NM_017780.4(CHD7):c.2723G>A (p.Trp908Ter)
NM_017780.4(CHD7):c.2729C>G (p.Ser910Ter) rs1804054410
NM_017780.4(CHD7):c.2767dup (p.Asp923fs) rs1804056309
NM_017780.4(CHD7):c.2805_2806insTT (p.Met936fs) rs2150748939
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter) rs587783434
NM_017780.4(CHD7):c.281del (p.Pro94fs) rs1809027236
NM_017780.4(CHD7):c.282del (p.Asn96fs) rs1563559321
NM_017780.4(CHD7):c.2836-1G>A rs1586389929
NM_017780.4(CHD7):c.2836-2A>T rs878855031
NM_017780.4(CHD7):c.2839C>T (p.Arg947Ter) rs200220845
NM_017780.4(CHD7):c.2858G>A (p.Trp953Ter) rs1554597465
NM_017780.4(CHD7):c.2872_2873del (p.Ser958fs)
NM_017780.4(CHD7):c.2881del (p.Glu961fs) rs2150749363
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs) rs587783436
NM_017780.4(CHD7):c.2908G>T (p.Glu970Ter)
NM_017780.4(CHD7):c.2915A>G (p.Gln972Arg) rs1554597512
NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer) rs1586390136
NM_017780.4(CHD7):c.2930del (p.Asn977fs)
NM_017780.4(CHD7):c.2948G>A (p.Trp983Ter)
NM_017780.4(CHD7):c.2949G>A (p.Trp983Ter)
NM_017780.4(CHD7):c.2957+2T>C rs2150749475
NM_017780.4(CHD7):c.2957+5G>A rs1586390236
NM_017780.4(CHD7):c.2959C>T (p.Arg987Ter) rs886040983
NM_017780.4(CHD7):c.2990del (p.Leu997fs) rs1554597677
NM_017780.4(CHD7):c.29_30del (p.Phe10fs) rs1586247124
NM_017780.4(CHD7):c.3039del (p.Gly1014fs) rs2150750228
NM_017780.4(CHD7):c.3071dup (p.Leu1025fs) rs886040984
NM_017780.4(CHD7):c.3082A>G (p.Ile1028Val) rs121434338
NM_017780.4(CHD7):c.3089A>G (p.Asn1030Ser) rs886041167
NM_017780.4(CHD7):c.3093G>C (p.Trp1031Cys) rs1060503187
NM_017780.4(CHD7):c.3106C>T (p.Arg1036Ter) rs1554597716
NM_017780.4(CHD7):c.3166del (p.Ile1056fs)
NM_017780.4(CHD7):c.3202-3T>G rs1060503183
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter) rs886040985
NM_017780.4(CHD7):c.3209del (p.Val1070fs) rs1554597952
NM_017780.4(CHD7):c.328_329insGGAGG (p.Val110fs)
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg) rs1586393556
NM_017780.4(CHD7):c.3309_3310del (p.Val1103_Ile1104insTer) rs2150752540
NM_017780.4(CHD7):c.3320_3333dup (p.Asn1112delinsProThrGlyTer)
NM_017780.4(CHD7):c.3364_3365del (p.Lys1122fs)
NM_017780.4(CHD7):c.3367_3368dup (p.Met1123fs) rs1804158472
NM_017780.4(CHD7):c.3369dup (p.Met1124fs)
NM_017780.4(CHD7):c.3378+5G>C rs1554598029
NM_017780.4(CHD7):c.3378G>C (p.Leu1126Phe)
NM_017780.4(CHD7):c.3379-2A>C rs864622523
NM_017780.4(CHD7):c.3379G>T (p.Glu1127Ter) rs1563636399
NM_017780.4(CHD7):c.3412C>T (p.Gln1138Ter) rs1554599035
NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs) rs2150761158
NM_017780.4(CHD7):c.3431del (p.Leu1144fs)
NM_017780.4(CHD7):c.3470del (p.Pro1157fs) rs1804367478
NM_017780.4(CHD7):c.3490C>T (p.Gln1164Ter) rs1554599065
NM_017780.4(CHD7):c.3514_3515del (p.Glu1172fs) rs1804369315
NM_017780.4(CHD7):c.3522+1G>A rs1804369859
NM_017780.4(CHD7):c.3526C>T (p.Gln1176Ter) rs886040986
NM_017780.4(CHD7):c.356_359dup (p.Gly121fs) rs2150578004
NM_017780.4(CHD7):c.3572_3573del (p.Lys1191fs) rs886040987
NM_017780.4(CHD7):c.3577_3583del (p.Asp1193fs) rs1586405367
NM_017780.4(CHD7):c.3606_3616dup (p.Ile1206fs) rs1554599462
NM_017780.4(CHD7):c.3641A>C (p.Gln1214Pro) rs1804454889
NM_017780.4(CHD7):c.3655C>T (p.Arg1219Ter) rs372174845
NM_017780.4(CHD7):c.3674dup (p.Asn1225fs) rs886040989
NM_017780.4(CHD7):c.3678del (p.Phe1226fs) rs863224518
NM_017780.4(CHD7):c.3695_3710dup (p.Asn1237delinsLysArgTrpSerSerTer) rs2150764898
NM_017780.4(CHD7):c.3768C>G (p.Tyr1256Ter) rs878855032
NM_017780.4(CHD7):c.3770T>G (p.Leu1257Arg) rs121434339
NM_017780.4(CHD7):c.3811G>T (p.Glu1271Ter) rs121434342
NM_017780.4(CHD7):c.3811_3814del (p.Glu1271fs) rs886040990
NM_017780.4(CHD7):c.3840del (p.Gln1281fs)
NM_017780.4(CHD7):c.3847C>T (p.Gln1283Ter)
NM_017780.4(CHD7):c.3881T>C (p.Leu1294Pro) rs864309609
NM_017780.4(CHD7):c.3905T>C (p.Leu1302Pro) rs1563643394
NM_017780.4(CHD7):c.3937del (p.Ser1313fs) rs1554600538
NM_017780.4(CHD7):c.3964del (p.Leu1322fs) rs879255410
NM_017780.4(CHD7):c.398_401del (p.Arg133fs)
NM_017780.4(CHD7):c.3999del (p.Pro1332_Tyr1333insTer) rs1586417729
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.406C>T (p.Gln136Ter)
NM_017780.4(CHD7):c.4185+1G>A rs1586418093
NM_017780.4(CHD7):c.4203_4204del (p.His1401fs) rs1804800490
NM_017780.4(CHD7):c.4216_4217del (p.Ser1406fs)
NM_017780.4(CHD7):c.4236C>G (p.Tyr1412Ter)
NM_017780.4(CHD7):c.4295_4296del (p.Leu1432fs) rs1586419497
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter) rs587783440
NM_017780.4(CHD7):c.4353+1G>T rs1804804514
NM_017780.4(CHD7):c.4354-1G>A rs2150779252
NM_017780.4(CHD7):c.4360C>T (p.Gln1454Ter) rs2150779267
NM_017780.4(CHD7):c.4375G>T (p.Glu1459Ter)
NM_017780.4(CHD7):c.4379_4380del (p.Ile1460fs) rs398124319
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter) rs886040991
NM_017780.4(CHD7):c.4424del (p.Glu1475fs) rs1804819972
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter) rs587783442
NM_017780.4(CHD7):c.4494dup (p.Thr1499fs) rs1563645417
NM_017780.4(CHD7):c.4515dup (p.Gly1506fs)
NM_017780.4(CHD7):c.4533+1G>A rs1586420419
NM_017780.4(CHD7):c.4542del (p.Phe1514fs) rs2150785999
NM_017780.4(CHD7):c.4627dup (p.Asp1543fs) rs2150786214
NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer) rs587783443
NM_017780.4(CHD7):c.463C>T (p.Gln155Ter) rs1809042353
NM_017780.4(CHD7):c.4645-1G>A
NM_017780.4(CHD7):c.4652del (p.Leu1551fs) rs1586426486
NM_017780.4(CHD7):c.4662del (p.Asp1554fs) rs1563648905
NM_017780.4(CHD7):c.4667dup (p.Arg1557fs) rs2150786530
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter) rs794727293
NM_017780.4(CHD7):c.4738G>T (p.Glu1580Ter) rs1804993220
NM_017780.4(CHD7):c.4747del (p.Ser1583fs)
NM_017780.4(CHD7):c.4757del (p.Lys1586fs)
NM_017780.4(CHD7):c.4783C>T (p.Gln1595Ter)
NM_017780.4(CHD7):c.478del (p.Tyr160fs) rs1554581198
NM_017780.4(CHD7):c.4795C>T (p.Gln1599Ter) rs267606724
NM_017780.4(CHD7):c.480C>A (p.Tyr160Ter)
NM_017780.4(CHD7):c.4835del (p.Asn1612fs) rs1554601654
NM_017780.4(CHD7):c.4837_4838del (p.Leu1613fs) rs886040992
NM_017780.4(CHD7):c.4850+1G>A
NM_017780.4(CHD7):c.487C>T (p.Gln163Ter)
NM_017780.4(CHD7):c.4888del (p.Tyr1630fs) rs2150792975
NM_017780.4(CHD7):c.4906G>T (p.Glu1636Ter) rs2150793053
NM_017780.4(CHD7):c.4915del (p.Asp1638_Val1639insTer) rs864622455
NM_017780.4(CHD7):c.4933del (p.Thr1645fs) rs2150793143
NM_017780.4(CHD7):c.4940_4944delinsA (p.Leu1647fs)
NM_017780.4(CHD7):c.4944_4945del (p.Tyr1649fs) rs1805142029
NM_017780.4(CHD7):c.496C>T (p.Gln166Ter) rs886040978
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter) rs797045467
NM_017780.4(CHD7):c.5029C>T (p.Arg1677Ter) rs777652245
NM_017780.4(CHD7):c.5050+1G>C rs1554602466
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser) rs1554602465
NM_017780.4(CHD7):c.5051-1G>A rs1586432203
NM_017780.4(CHD7):c.5101C>T (p.Gln1701Ter)
NM_017780.4(CHD7):c.5101del (p.Gln1701fs) rs1554602557
NM_017780.4(CHD7):c.5110C>T (p.Gln1704Ter) rs1805157634
NM_017780.4(CHD7):c.511C>T (p.Gln171Ter) rs1563560018
NM_017780.4(CHD7):c.5167del (p.Gln1723fs) rs797044919
NM_017780.4(CHD7):c.5199dup (p.His1734fs) rs863224856
NM_017780.4(CHD7):c.519del (p.Pro174fs) rs1809050272
NM_017780.4(CHD7):c.5202del (p.Cys1735fs)
NM_017780.4(CHD7):c.5209A>T (p.Lys1737Ter)
NM_017780.4(CHD7):c.5210+2T>C rs1554602587
NM_017780.4(CHD7):c.5210+3A>G rs1554602588
NM_017780.4(CHD7):c.5211-1G>C rs1060503180
NM_017780.4(CHD7):c.5211-2A>G rs1805310365
NM_017780.4(CHD7):c.5235_5236dup (p.Tyr1746fs) rs886040994
NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter) rs1554603151
NM_017780.4(CHD7):c.5241C>A (p.Tyr1747Ter)
NM_017780.4(CHD7):c.5242del (p.Tyr1747_Leu1748insTer)
NM_017780.4(CHD7):c.528dup (p.Pro177fs) rs797045468
NM_017780.4(CHD7):c.5300+1G>A
NM_017780.4(CHD7):c.5330del (p.Phe1777fs) rs1805335711
NM_017780.4(CHD7):c.5355G>A (p.Trp1785Ter) rs1554603276
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter) rs1805338299
NM_017780.4(CHD7):c.538C>T (p.Gln180Ter) rs1563560149
NM_017780.4(CHD7):c.5405-13G>A rs1131690787
NM_017780.4(CHD7):c.5405-17G>A rs794727423
NM_017780.4(CHD7):c.5405-18C>A rs199981784
NM_017780.4(CHD7):c.5405-2A>G rs1131692153
NM_017780.4(CHD7):c.5405-7G>A rs398124321
NM_017780.4(CHD7):c.5409T>G (p.Tyr1803Ter) rs1021645395
NM_017780.4(CHD7):c.5414_5422dup (p.Ser1808Ter) rs2150804625
NM_017780.4(CHD7):c.5418C>G (p.Tyr1806Ter) rs121434340
NM_017780.4(CHD7):c.5428C>T (p.Arg1810Ter) rs1554603552
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter) rs587783446
NM_017780.4(CHD7):c.5547_5550del (p.Asp1849fs) rs2150805748
NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter) rs587783447
NM_017780.4(CHD7):c.557_558dup (p.Gln187fs) rs1809054571
NM_017780.4(CHD7):c.5607+1G>A rs1554603672
NM_017780.4(CHD7):c.5638dup (p.Glu1880fs) rs797045469
NM_017780.4(CHD7):c.5655del (p.His1886fs)
NM_017780.4(CHD7):c.5665+1dup rs2150806303
NM_017780.4(CHD7):c.5666-2A>C rs587783448
NM_017780.4(CHD7):c.5680_5681dup (p.Ser1894fs) rs1554603818
NM_017780.4(CHD7):c.5689G>T (p.Glu1897Ter)
NM_017780.4(CHD7):c.5706C>G (p.Tyr1902Ter) rs1131692325
NM_017780.4(CHD7):c.5708G>A (p.Trp1903Ter)
NM_017780.4(CHD7):c.5752dup (p.Thr1918fs) rs786200873
NM_017780.4(CHD7):c.5782C>T (p.Gln1928Ter)
NM_017780.4(CHD7):c.5833C>T (p.Arg1945Ter) rs757160222
NM_017780.4(CHD7):c.5879_5880del (p.Ile1959_Ser1960insTer) rs2150808082
NM_017780.4(CHD7):c.5895-2A>T rs2150808631
NM_017780.4(CHD7):c.5897G>A (p.Trp1966Ter)
NM_017780.4(CHD7):c.5898G>A (p.Trp1966Ter) rs2150808654
NM_017780.4(CHD7):c.5909_5910insTC (p.Glu1970fs) rs2150808678
NM_017780.4(CHD7):c.5912del (p.Glu1971fs) rs2150808685
NM_017780.4(CHD7):c.5914dup (p.Ala1972fs) rs1586444410
NM_017780.4(CHD7):c.5932del (p.Val1978fs) rs1805501026
NM_017780.4(CHD7):c.5968C>T (p.Gln1990Ter) rs1554603970
NM_017780.4(CHD7):c.6045del (p.Phe2015fs)
NM_017780.4(CHD7):c.604C>T (p.Gln202Ter) rs1554581277
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter) rs1360515765
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.6114_6120del (p.Leu2039fs) rs1131691420
NM_017780.4(CHD7):c.6148C>T (p.Arg2050Ter) rs886040996
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter) rs587783450
NM_017780.4(CHD7):c.6163_6164del (p.Leu2055fs) rs1060503185
NM_017780.4(CHD7):c.6165_6166del (p.Tyr2056fs) rs886039528
NM_017780.4(CHD7):c.6199C>T (p.Gln2067Ter) rs766862122
NM_017780.4(CHD7):c.619C>T (p.Gln207Ter)
NM_017780.4(CHD7):c.6217C>T (p.Gln2073Ter) rs2150809777
NM_017780.4(CHD7):c.6242del (p.Cys2081fs)
NM_017780.4(CHD7):c.6272G>A (p.Trp2091Ter) rs1805529214
NM_017780.4(CHD7):c.6273G>T (p.Trp2091Cys) rs2150809927
NM_017780.4(CHD7):c.6287A>G (p.His2096Arg) rs587783451
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter) rs875989879
NM_017780.4(CHD7):c.6292del (p.Arg2098fs) rs1060499560
NM_017780.4(CHD7):c.6322G>A (p.Gly2108Arg) rs121434343
NM_017780.4(CHD7):c.6341_6358dup (p.Asp2119_Pro2120insHisHisIleLeuAsnAsp) rs1805535866
NM_017780.4(CHD7):c.634C>T (p.Gln212Ter) rs2150578792
NM_017780.4(CHD7):c.635del (p.Gln212fs) rs1586249038
NM_017780.4(CHD7):c.6401del (p.Asn2134fs) rs1586446101
NM_017780.4(CHD7):c.643C>T (p.Gln215Ter) rs2150578812
NM_017780.4(CHD7):c.6446del (p.Gly2149fs) rs797045470
NM_017780.4(CHD7):c.6473C>A (p.Ser2158Ter) rs376056567
NM_017780.4(CHD7):c.6473del (p.Ser2158fs) rs1563660938
NM_017780.4(CHD7):c.6521_6525del (p.Lys2174fs)
NM_017780.4(CHD7):c.6526del (p.Glu2176fs) rs797045471
NM_017780.4(CHD7):c.6531dup (p.Pro2178fs) rs2150810800
NM_017780.4(CHD7):c.6641_6642del (p.Val2214fs) rs2150811163
NM_017780.4(CHD7):c.667G>T (p.Gly223Ter) rs1809060881
NM_017780.4(CHD7):c.6730_6733dup (p.Leu2245fs) rs2150811416
NM_017780.4(CHD7):c.6737dup (p.Asp2247fs) rs2150811446
NM_017780.4(CHD7):c.6775+1G>A rs1805573066
NM_017780.4(CHD7):c.6775+1G>T rs1805573066
NM_017780.4(CHD7):c.6817_6818del (p.Asn2273fs) rs1805613575
NM_017780.4(CHD7):c.6825dup (p.Met2276fs) rs797045472
NM_017780.4(CHD7):c.6841_6842insTA (p.Asp2281fs) rs1554604441
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.6888_6889del (p.Ala2297fs) rs1563662791
NM_017780.4(CHD7):c.689C>A (p.Ser230Ter) rs1809062715
NM_017780.4(CHD7):c.6936+2T>C
NM_017780.4(CHD7):c.6937-2A>G rs1586451506
NM_017780.4(CHD7):c.6955C>A (p.Arg2319Ser) rs121434341
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys) rs121434341
NM_017780.4(CHD7):c.6995G>A (p.Trp2332Ter) rs794727569
NM_017780.4(CHD7):c.7078A>T (p.Lys2360Ter) rs1805694320
NM_017780.4(CHD7):c.7123del (p.Ser2375fs)
NM_017780.4(CHD7):c.7132G>T (p.Glu2378Ter) rs878975068
NM_017780.4(CHD7):c.7160C>G (p.Ser2387Ter) rs2129644242
NM_017780.4(CHD7):c.7164+1G>A rs2129644267
NM_017780.4(CHD7):c.7165-4A>G rs1554604915
NM_017780.4(CHD7):c.7184_7185del (p.Ser2395fs) rs1586452701
NM_017780.4(CHD7):c.718del (p.Gln240fs) rs1563560493
NM_017780.4(CHD7):c.7222G>T (p.Glu2408Ter) rs1341064149
NM_017780.4(CHD7):c.7246A>T (p.Lys2416Ter) rs1586452965
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter) rs587783455
NM_017780.4(CHD7):c.7258del (p.Leu2420fs)
NM_017780.4(CHD7):c.7262del (p.Met2421fs)
NM_017780.4(CHD7):c.7276del (p.Gln2426fs) rs1805723571
NM_017780.4(CHD7):c.7282C>T (p.Arg2428Ter) rs1320897198
NM_017780.4(CHD7):c.7282dup (p.Arg2428fs) rs886040997
NM_017780.4(CHD7):c.7285G>T (p.Glu2429Ter) rs773047607
NM_017780.4(CHD7):c.7286_7287del (p.Glu2429fs) rs1805724910
NM_017780.4(CHD7):c.7297del (p.Val2433fs) rs1064793972
NM_017780.4(CHD7):c.7301C>G (p.Ser2434Ter)
NM_017780.4(CHD7):c.7312C>T (p.Gln2438Ter) rs1060503188
NM_017780.4(CHD7):c.7344_7345del (p.Glu2450fs) rs1586453267
NM_017780.4(CHD7):c.7356_7357dup (p.Ser2453fs) rs1586453329
NM_017780.4(CHD7):c.7384_7387del (p.Ser2462fs) rs587783456
NM_017780.4(CHD7):c.7540_7541dup (p.Arg2515fs) rs1586453824
NM_017780.4(CHD7):c.7585del (p.His2529fs) rs2129653634
NM_017780.4(CHD7):c.7663del (p.Arg2555fs) rs863224843
NM_017780.4(CHD7):c.7681G>T (p.Gly2561Ter) rs774255090
NM_017780.4(CHD7):c.7684C>T (p.Gln2562Ter) rs1563669203
NM_017780.4(CHD7):c.7701_7702del (p.Arg2568fs) rs1805943625
NM_017780.4(CHD7):c.7710del (p.Val2571fs) rs2129704530
NM_017780.4(CHD7):c.7711_7718del (p.Val2571fs)
NM_017780.4(CHD7):c.7763A>G (p.Asn2588Ser) rs1554606033
NM_017780.4(CHD7):c.7776del (p.Glu2593fs)
NM_017780.4(CHD7):c.7781G>A (p.Trp2594Ter) rs748126701
NM_017780.4(CHD7):c.7800_7801dup (p.Tyr2601fs)
NM_017780.4(CHD7):c.7802dup (p.Tyr2601Ter) rs886040998
NM_017780.4(CHD7):c.7803C>A (p.Tyr2601Ter) rs1563669432
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter) rs1563669432
NM_017780.4(CHD7):c.7824T>A (p.Tyr2608Ter)
NM_017780.4(CHD7):c.7824T>G (p.Tyr2608Ter) rs1586460329
NM_017780.4(CHD7):c.7840_7841dup (p.Asp2614fs)
NM_017780.4(CHD7):c.7879C>T (p.Arg2627Ter) rs1064793346
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter) rs587783457
NM_017780.4(CHD7):c.7913_7914del (p.Ile2638fs)
NM_017780.4(CHD7):c.7930_7934del (p.Glu2644fs)
NM_017780.4(CHD7):c.7936dup (p.Arg2646fs) rs2129721609
NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs) rs797045473
NM_017780.4(CHD7):c.7956del (p.Lys2652fs) rs2129721740
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter) rs587783458
NM_017780.4(CHD7):c.7967del (p.Lys2656fs) rs2129721927
NM_017780.4(CHD7):c.7977_8063delinsCTCA (p.Gly2660fs) rs1806048148
NM_017780.4(CHD7):c.8015G>A (p.Trp2672Ter) rs1563670964
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter) rs748504264
NM_017780.4(CHD7):c.8049del (p.Asp2684fs) rs1586463029
NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter) rs587783459
NM_017780.4(CHD7):c.8064del (p.Ile2688fs) rs2129726316
NM_017780.4(CHD7):c.8067del (p.Lys2690fs) rs1554606375
NM_017780.4(CHD7):c.8068_8069insTAAC (p.Lys2690fs) rs1806054045
NM_017780.4(CHD7):c.8076+1G>C rs1563671108
NM_017780.4(CHD7):c.8077-1G>C rs1586466948
NM_017780.4(CHD7):c.8077-2A>G rs1806173195
NM_017780.4(CHD7):c.807del (p.Ala270fs) rs1586249559
NM_017780.4(CHD7):c.8105dup (p.Leu2703fs)
NM_017780.4(CHD7):c.8360del (p.Gly2787fs) rs2129761877
NM_017780.4(CHD7):c.8416del (p.Leu2806fs)
NM_017780.4(CHD7):c.841C>T (p.Gln281Ter) rs2150579361
NM_017780.4(CHD7):c.8456del (p.Pro2819fs) rs2129764240
NM_017780.4(CHD7):c.8546del (p.Glu2849fs) rs2129765592
NM_017780.4(CHD7):c.8549_8555del (p.Asn2850fs) rs1563674316
NM_017780.4(CHD7):c.8570_8571del (p.Asp2856_Ser2857insTer)
NM_017780.4(CHD7):c.8606_8607del (p.Ser2869fs)
NM_017780.4(CHD7):c.8618_8634del (p.Ser2873fs) rs1586468521
NM_017780.4(CHD7):c.8682_8683insT (p.Leu2895fs) rs1563674576
NM_017780.4(CHD7):c.8730_8731del (p.Pro2911fs) rs886041000
NM_017780.4(CHD7):c.8744dup (p.Leu2916fs) rs1554607313
NM_017780.4(CHD7):c.889C>T (p.Gln297Ter) rs1586249808
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs) rs771806027
NM_017780.4(CHD7):c.91G>T (p.Glu31Ter)
NM_017780.4(CHD7):c.925C>T (p.Gln309Ter) rs1436515577
NM_017780.4(CHD7):c.927_928del (p.Tyr310fs)
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter) rs886041166
NM_017827.4(SARS2):c.1042T>C (p.Phe348Leu) rs1114167285
NM_017827.4(SARS2):c.1169A>G (p.Asp390Gly) rs727502784
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018043.7(ANO1):c.1972A>G (p.Met658Val)
NM_018043.7(ANO1):c.2219C>T (p.Thr740Ile)
NM_018043.7(ANO1):c.508G>A (p.Glu170Lys)
NM_018055.5(NODAL):c.397C>T (p.Gln133Ter) rs1447874899
NM_018055.5(NODAL):c.446del (p.Gly149fs) rs1589152470
NM_018055.5(NODAL):c.555del (p.Thr186fs) rs772802856
NM_018055.5(NODAL):c.591C>A (p.Tyr197Ter) rs1589152355
NM_018055.5(NODAL):c.700_723delinsTTGACTTCC (p.Arg234_Pro241delinsLeuThrSer) rs2132214841
NM_018122.5(DARS2):c.228-21_228-20delinsC rs1553201258
NM_018161.5(NADSYN1):c.1819del (p.Val607fs) rs1327307171
NM_018161.5(NADSYN1):c.1839C>G (p.Tyr613Ter) rs1008561025
NM_018161.5(NADSYN1):c.524G>A (p.Cys175Tyr) rs764123669
NM_018161.5(NADSYN1):c.735T>A (p.Cys245Ter) rs1949650831
NM_018238.4(AGK):c.1035dup (p.Ile346fs) rs1259937492
NM_018238.4(AGK):c.1039_1042dup (p.Ile348fs) rs778049466
NM_018238.4(AGK):c.1131+5G>A rs542547163
NM_018238.4(AGK):c.1141_1142dup (p.Ser382fs) rs1554405928
NM_018238.4(AGK):c.1166_1167dup (p.Tyr390fs)
NM_018238.4(AGK):c.1170T>G (p.Tyr390Ter) rs1554405935
NM_018238.4(AGK):c.141+2T>C rs1554399572
NM_018238.4(AGK):c.25C>T (p.Arg9Ter)
NM_018238.4(AGK):c.298-2A>G rs1554401640
NM_018238.4(AGK):c.306T>G (p.Tyr102Ter) rs1554401641
NM_018238.4(AGK):c.356dup (p.Ile120fs)
NM_018238.4(AGK):c.388G>T (p.Glu130Ter)
NM_018238.4(AGK):c.3G>C (p.Met1Ile) rs863223895
NM_018238.4(AGK):c.409del (p.Arg137fs)
NM_018238.4(AGK):c.424-3C>G rs766413410
NM_018238.4(AGK):c.517C>T (p.Gln173Ter) rs387907024
NM_018238.4(AGK):c.518+1G>A
NM_018238.4(AGK):c.523_524del (p.Ile175fs) rs1228071168
NM_018238.4(AGK):c.628C>T (p.Arg210Ter)
NM_018238.4(AGK):c.632G>A (p.Trp211Ter) rs2116998520
NM_018238.4(AGK):c.672C>G (p.Tyr224Ter) rs771945804
NM_018238.4(AGK):c.72G>A (p.Trp24Ter) rs1587053244
NM_018238.4(AGK):c.860G>A (p.Trp287Ter)
NM_018238.4(AGK):c.975+1G>T rs868431923
NM_018365.4(MNS1):c.407_410del (p.Glu136fs) rs1596264554
NM_018365.4(MNS1):c.605dup (p.Gln203fs)
NM_018365.4(MNS1):c.68_69delinsAG (p.Cys23Ter)
NM_018365.4(MNS1):c.724C>T (p.Arg242Ter) rs185005213
NM_018419.3(SOX18):c.283T>A (p.Trp95Arg) rs28936693
NM_018419.3(SOX18):c.481C>T (p.Gln161Ter) rs794728015
NM_018419.3(SOX18):c.712G>T (p.Glu238Ter) rs1210062863
NM_018419.3(SOX18):c.720C>A (p.Cys240Ter) rs74315430
NM_018676.4(THSD1):c.1322_1329del (p.Arg441fs)
NM_018676.4(THSD1):c.1348C>T (p.Arg450Ter) rs1594095223
NM_018676.4(THSD1):c.1561C>T (p.Gln521Ter)
NM_018676.4(THSD1):c.617G>A (p.Cys206Tyr) rs786205669
NM_018676.4(THSD1):c.670C>T (p.Arg224Ter) rs9536062
NM_018676.4(THSD1):c.892G>T (p.Glu298Ter)
NM_018714.3(COG1):c.1006C>T (p.Arg336Ter)
NM_018714.3(COG1):c.1070+5G>A rs1568296260
NM_018714.3(COG1):c.1091del (p.Asn364fs)
NM_018714.3(COG1):c.1130del (p.Lys377fs) rs2145097019
NM_018714.3(COG1):c.148C>T (p.Gln50Ter)
NM_018714.3(COG1):c.254dup (p.Tyr86fs)
NM_018714.3(COG1):c.2665dup (p.Arg889fs) rs747606976
NM_018714.3(COG1):c.2686C>T (p.Gln896Ter)
NM_019055.6(ROBO4):c.2056+1G>T rs764038221
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_020297.4(ABCC9):c.1266T>G (p.Asn422Lys)
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_020297.4(ABCC9):c.3347G>A (p.Arg1116His) rs387907227
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln) rs387907209
NM_020297.4(ABCC9):c.3605C>T (p.Thr1202Met) rs2137272605
NM_020297.4(ABCC9):c.3796G>A (p.Val1266Met) rs1555179320
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT rs869025349
NM_020297.4(ABCC9):c.4512+746_4512+747insT rs761784169
NM_020297.4(ABCC9):c.4512+814C>T rs387906805
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.482C>A (p.Thr161Lys) rs587782951
NM_020433.5(JPH2):c.494C>T (p.Ser165Phe) rs387906898
NM_020435.4(GJC2):c.143C>T (p.Ser48Leu) rs267606847
NM_020435.4(GJC2):c.778C>T (p.Arg260Cys) rs267606846
NM_020778.5(ALPK3):c.1036_1039dup (p.Pro347fs)
NM_020778.5(ALPK3):c.1642_1645dup (p.Pro549fs)
NM_020778.5(ALPK3):c.2237del (p.Gly746fs) rs1596155145
NM_020778.5(ALPK3):c.2471delinsTCATT (p.Ser824fs) rs2141567902
NM_020778.5(ALPK3):c.3186G>A (p.Trp1062Ter) rs1555435531
NM_020778.5(ALPK3):c.3381del (p.Ser1129fs) rs2141569005
NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs) rs777315336
NM_020778.5(ALPK3):c.4688G>A (p.Trp1563Ter) rs1555436118
NM_020778.5(ALPK3):c.913C>T (p.Gln305Ter) rs1225841418
NM_020884.7(MYH7B):c.4931_4932del (p.Thr1644fs) rs1600477808
NM_020884.7(MYH7B):c.611_615dup (p.Lys206fs) rs764950910
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021005.4(NR2F2):c.1022C>A (p.Ser341Tyr) rs587777371
NM_021005.4(NR2F2):c.210GCA[6] (p.Gln75dup) rs780808943
NM_021005.4(NR2F2):c.217C>T (p.Gln73Ter) rs1899172049
NM_021005.4(NR2F2):c.247G>T (p.Gly83Ter) rs1555447012
NM_021005.4(NR2F2):c.576del (p.Thr193fs)
NM_021005.4(NR2F2):c.604C>T (p.Gln202Ter) rs2141169116
NM_021005.4(NR2F2):c.614A>T (p.Asn205Ile) rs587777372
NM_021005.4(NR2F2):c.856dup (p.Val286fs) rs886041730
NM_021005.4(NR2F2):c.970+1G>A rs587777374
NM_021005.4(NR2F2):c.97_103del (p.Pro33fs) rs1899167019
NM_021044.4(DHH):c.1004T>C (p.Leu335Pro) rs2120821285
NM_021044.4(DHH):c.1011del (p.Asn337fs) rs1565572949
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.528C>A (p.Tyr176Ter) rs1565573786
NM_021044.4(DHH):c.528C>G (p.Tyr176Ter) rs1565573786
NM_021044.4(DHH):c.554C>A (p.Ser185Ter) rs1939295073
NM_021167.5(GATAD1):c.304T>C (p.Ser102Pro) rs387907188
NM_021830.5(TWNK):c.1485-1G>A
NM_021973.3(HAND2):c.199G>T (p.Glu67Ter) rs1553974835
NM_021999.5(ITM2B):c.787_796dup (p.Ser266fs) rs606231166
NM_021999.5(ITM2B):c.799T>A (p.Ter267Arg) rs104894417
NM_022114.4(PRDM16):c.1573dup (p.Arg525fs) rs886041395
NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter) rs397514742
NM_022114.4(PRDM16):c.213del (p.Val72fs) rs1569798933
NM_022114.4(PRDM16):c.2660T>C (p.Leu887Pro) rs202115331
NM_022114.4(PRDM16):c.534C>A (p.Cys178Ter) rs1643176372
NM_022162.2(NOD2):c.2197G>T (p.Val733Leu) rs746055479
NM_022162.2(NOD2):c.2446G>A rs886040969
NM_022454.4(SOX17):c.314C>A (p.Ser105Ter) rs2129277991
NM_022455.5(NSD1):c.1046_1048delinsT (p.Thr349fs) rs1581254366
NM_022455.5(NSD1):c.1509delinsGA (p.Asp504fs) rs1562205351
NM_022455.5(NSD1):c.1609_1610delinsC (p.Phe537fs) rs1763204241
NM_022455.5(NSD1):c.1654del (p.Ser552fs) rs1060501497
NM_022455.5(NSD1):c.1816A>T (p.Lys606Ter) rs1554189131
NM_022455.5(NSD1):c.207C>A (p.Tyr69Ter) rs1562097849
NM_022455.5(NSD1):c.2256_2257del (p.Pro753fs) rs1581319715
NM_022455.5(NSD1):c.2316_2329dup (p.Leu777fs) rs1554189490
NM_022455.5(NSD1):c.2334dup (p.His779fs) rs1554189512
NM_022455.5(NSD1):c.2619_2623del (p.Glu874fs) rs1060501490
NM_022455.5(NSD1):c.2760_2763del (p.Ser920fs) rs1064794051
NM_022455.5(NSD1):c.3386_3387del (p.Ser1128_Phe1129insTer) rs1554190214
NM_022455.5(NSD1):c.3422del (p.Met1141fs) rs1554190247
NM_022455.5(NSD1):c.3548_3549insGA (p.Glu1184fs) rs878855075
NM_022455.5(NSD1):c.3570dup (p.Leu1191fs) rs1562213553
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs) rs587784104
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) rs587784105
NM_022455.5(NSD1):c.3968_3969dup (p.Ser1324fs) rs1554195840
NM_022455.5(NSD1):c.4213C>T (p.Gln1405Ter) rs1581411478
NM_022455.5(NSD1):c.4226_4229del (p.Thr1409fs) rs1765713589
NM_022455.5(NSD1):c.5437_5440del (p.Phe1813fs) rs1554202205
NM_022455.5(NSD1):c.5994del (p.Met1998fs) rs878855077
NM_022455.5(NSD1):c.6020_6021dup (p.Asp2008fs) rs1554204923
NM_022455.5(NSD1):c.880_881del (p.Glu294fs) rs1060501492
NM_022844.2(MYH11):c.[4578+1G>T;5273G>A]
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.3(TMEM43):c.253G>A (p.Glu85Lys) rs397514044
NM_024408.4(NOTCH2):c.1331G>A (p.Cys444Tyr) rs111033632
NM_024408.4(NOTCH2):c.4593dup (p.Leu1532fs)
NM_024408.4(NOTCH2):c.5644C>T (p.His1882Tyr) rs1570658378
NM_024408.4(NOTCH2):c.5930-1G>A rs312262798
NM_024408.4(NOTCH2):c.5930-2A>G
NM_024408.4(NOTCH2):c.6125T>C (p.Met2042Thr) rs1649084282
NM_024422.6(DSC2):c.1023dup (p.Ile342fs) rs768389941
NM_024422.6(DSC2):c.1053_1059del (p.His351fs) rs1373100329
NM_024422.6(DSC2):c.110_114del (p.Leu37fs) rs2144850365
NM_024422.6(DSC2):c.1187T>G (p.Leu396Ter)
NM_024422.6(DSC2):c.1187dup (p.Leu396fs)
NM_024422.6(DSC2):c.123del (p.Lys42fs) rs1598592533
NM_024422.6(DSC2):c.1260del (p.Lys421fs)
NM_024422.6(DSC2):c.133del (p.Ala45fs)
NM_024422.6(DSC2):c.1370_1371dup (p.Val458fs) rs1987170019
NM_024422.6(DSC2):c.1430del (p.Thr477fs) rs397514041
NM_024422.6(DSC2):c.1486del (p.Tyr496fs) rs1987161799
NM_024422.6(DSC2):c.1571del (p.Thr524fs) rs2144812824
NM_024422.6(DSC2):c.1577C>A (p.Ser526Ter) rs887847751
NM_024422.6(DSC2):c.1660C>T (p.Gln554Ter) rs878853170
NM_024422.6(DSC2):c.1720_1733del (p.Asn573_Ser574insTer) rs2144800227
NM_024422.6(DSC2):c.1840_1841dup (p.Ser614fs) rs2144799555
NM_024422.6(DSC2):c.1858C>T (p.Gln620Ter) rs1986951516
NM_024422.6(DSC2):c.1932dup (p.Ser645fs) rs1448467079
NM_024422.6(DSC2):c.1939del (p.Tyr646_Val647insTer) rs1986844120
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) rs1555637555
NM_024422.6(DSC2):c.2136del (p.Phe712fs)
NM_024422.6(DSC2):c.2136dup (p.Thr713fs) rs2144788632
NM_024422.6(DSC2):c.2186del (p.Pro729fs) rs1598572298
NM_024422.6(DSC2):c.2200C>T (p.Gln734Ter) rs769022411
NM_024422.6(DSC2):c.2203C>T (p.Gln735Ter)
NM_024422.6(DSC2):c.2307T>A (p.Cys769Ter)
NM_024422.6(DSC2):c.2463C>A (p.Tyr821Ter) rs1567971476
NM_024422.6(DSC2):c.268G>T (p.Glu90Ter) rs1987624232
NM_024422.6(DSC2):c.30G>A (p.Trp10Ter) rs1555641322
NM_024422.6(DSC2):c.501_502dup (p.Thr168fs) rs2144839173
NM_024422.6(DSC2):c.685del (p.Pro228_Leu229insTer) rs1209546374
NM_024422.6(DSC2):c.686del (p.Leu229fs)
NM_024422.6(DSC2):c.729del (p.Phe243fs) rs2144833653
NM_024422.6(DSC2):c.77del (p.Ile26fs) rs1555640399
NM_024422.6(DSC2):c.846C>G (p.Tyr282Ter) rs397517406
NM_024422.6(DSC2):c.882dup (p.Phe295fs) rs1060502989
NM_024422.6(DSC2):c.929delinsTT (p.Gln310fs)
NM_024422.6(DSC2):c.96del (p.Ala31_Cys32insTer) rs397517408
NM_024422.6(DSC2):c.991C>T (p.Gln331Ter)
NM_024422.6(DSC2):c.996T>G (p.Tyr332Ter) rs1555639134
NM_024656.4(COLGALT1):c.1096del (p.Glu366fs) rs1568481204
NM_024656.4(COLGALT1):c.1129G>C (p.Gly377Arg) rs1568481244
NM_024656.4(COLGALT1):c.452T>G (p.Leu151Arg) rs1478523191
NM_024656.4(COLGALT1):c.460G>C (p.Ala154Pro) rs181844791
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_024741.3(ZNF408):c.1697T>A (p.Leu566His) rs1425566595
NM_024817.3(THSD4):c.137_145dup (p.Asp46_Gly48dup) rs2140250054
NM_024817.3(THSD4):c.1402del (p.Ala468fs) rs2141129448
NM_024817.3(THSD4):c.740del (p.Pro246_Leu247insTer) rs2140274801
NM_024817.3(THSD4):c.961T>A (p.Tyr321Asn) rs2140288609
NM_025207.5(FLAD1):c.1484_1486del (p.Ser495del) rs876661309
NM_025207.5(FLAD1):c.324del (p.Arg109fs) rs876661314
NM_025207.5(FLAD1):c.401_404del (p.Phe134fs) rs876661313
NM_025207.5(FLAD1):c.498del (p.Ser167fs) rs876661315
NM_025207.5(FLAD1):c.526_537delinsCA (p.Ala176fs) rs876661312
NM_025207.5(FLAD1):c.836del (p.Phe279fs) rs876661311
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.181A>G (p.Lys61Glu) rs730880517
NM_030662.4(MAP2K2):c.183A>C (p.Lys61Asn) rs886041310
NM_030662.4(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
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_030662.4(MAP2K2):c.401A>G (p.Tyr134Cys) rs727504370
NM_030777.4(SLC2A10):c.10del (p.Ser4fs)
NM_030777.4(SLC2A10):c.1334del (p.Gly445fs) rs587776600
NM_030777.4(SLC2A10):c.1424T>A (p.Leu475Ter) rs2123062030
NM_030777.4(SLC2A10):c.1A>G (p.Met1Val)
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_030777.4(SLC2A10):c.289del (p.Ser97fs)
NM_030777.4(SLC2A10):c.343_832delinsC (p.Ser115_Ala278delinsPro)
NM_030777.4(SLC2A10):c.473_476del (p.Ala158fs) rs2123045055
NM_030777.4(SLC2A10):c.483del (p.Trp162fs) rs2123045187
NM_030777.4(SLC2A10):c.485G>A (p.Trp162Ter) rs2123045274
NM_030777.4(SLC2A10):c.510G>A (p.Trp170Ter) rs80358229
NM_030777.4(SLC2A10):c.731_734del (p.Leu244fs) rs864309481
NM_030777.4(SLC2A10):c.961del (p.Val321fs) rs587776599
NM_030817.3(APOLD1):c.145_146delinsTA (p.Arg49Tyr)
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter) rs1555556099
NM_031443.4(CCM2):c.354C>G (p.Tyr118Ter) rs765548101
NM_032545.4(CFC1):c.334C>T (p.Arg112Cys) rs104893611
NM_032545.4(CFC1):c.361_362+18dup rs863223280
NM_032578.4(MYPN):c.1204C>T (p.Gln402Ter)
NM_032578.4(MYPN):c.1273G>T (p.Gly425Ter) rs777033025
NM_032578.4(MYPN):c.1465C>T (p.Arg489Ter)
NM_032578.4(MYPN):c.1585C>T (p.Gln529Ter) rs199476408
NM_032578.4(MYPN):c.1714del (p.Gln572fs)
NM_032578.4(MYPN):c.1722del (p.Lys575fs) rs2134168183
NM_032578.4(MYPN):c.1864C>T (p.Gln622Ter) rs1226400049
NM_032578.4(MYPN):c.1910dup (p.Thr639fs) rs2134169413
NM_032578.4(MYPN):c.1990C>T (p.Gln664Ter) rs2134198422
NM_032578.4(MYPN):c.2084del (p.Val694_Leu695insTer)
NM_032578.4(MYPN):c.211G>T (p.Glu71Ter)
NM_032578.4(MYPN):c.2689A>T (p.Arg897Ter) rs2134204980
NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu) rs864621995
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.2986C>T (p.Arg996Ter)
NM_032578.4(MYPN):c.3057del (p.Met1020fs) rs2134278222
NM_032578.4(MYPN):c.3127del (p.Ser1043fs) rs1589608098
NM_032578.4(MYPN):c.3214C>T (p.Arg1072Ter) rs1057519573
NM_032578.4(MYPN):c.3244_3245dup (p.Met1082fs)
NM_032578.4(MYPN):c.3327_3328del (p.Asn1109fs)
NM_032578.4(MYPN):c.3403_3404del (p.Pro1135fs) rs2134300034
NM_032578.4(MYPN):c.3409dup (p.Thr1137fs)
NM_032578.4(MYPN):c.367C>T (p.Arg123Ter) rs2133994592
NM_032578.4(MYPN):c.608C>A (p.Ser203Ter) rs2133995502
NM_032578.4(MYPN):c.781_784del (p.Tyr261fs)
NM_032588.4(TRIM63):c.277C>T (p.Gln93Ter)
NM_032588.4(TRIM63):c.481_482del (p.Ser161fs) rs540072010
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_032638.5(GATA2):c.1009C>T (p.Arg337Ter) rs387906632
NM_032638.5(GATA2):c.1017+1del rs2107670301
NM_032638.5(GATA2):c.1017+2T>C rs1576746830
NM_032638.5(GATA2):c.1017+2T>G rs1576746830
NM_032638.5(GATA2):c.1017+572C>T rs1559985787
NM_032638.5(GATA2):c.1018-10_1037del rs2107668773
NM_032638.5(GATA2):c.1018-11_1027del rs2107668823
NM_032638.5(GATA2):c.1018-1G>T rs869320668
NM_032638.5(GATA2):c.1018-2A>G rs1576745322
NM_032638.5(GATA2):c.1018-2A>T rs1576745322
NM_032638.5(GATA2):c.1018-3_1031del rs2107668806
NM_032638.5(GATA2):c.1018_1028del
NM_032638.5(GATA2):c.1019C>A (p.Ser340Ter) rs745439347
NM_032638.5(GATA2):c.1019_1020insCGACTGGGAGGGCAAGGCAG (p.Ala341fs) rs2107668860
NM_032638.5(GATA2):c.1019del (p.Ser340fs) rs2107668869
NM_032638.5(GATA2):c.1020_1029dup (p.Arg344fs) rs2107668812
NM_032638.5(GATA2):c.1021GCC[1] (p.Ala342del) rs2068635493
NM_032638.5(GATA2):c.1021_1024del (p.Ala341fs) rs869320770
NM_032638.5(GATA2):c.1021_1031del (p.Ala341fs) rs2107668805
NM_032638.5(GATA2):c.1021del (p.Ala341fs) rs1576745308
NM_032638.5(GATA2):c.1023_1026dup (p.Arg344fs) rs2107668827
NM_032638.5(GATA2):c.1023_1038dup (p.Thr347fs) rs1576745270
NM_032638.5(GATA2):c.1023del (p.Ala342fs) rs2107668848
NM_032638.5(GATA2):c.1023dup (p.Ala342fs) rs2107668848
NM_032638.5(GATA2):c.1024dup (p.Ala342fs) rs2068635607
NM_032638.5(GATA2):c.1025_1026insGCCG (p.Arg343fs) rs2107668832
NM_032638.5(GATA2):c.1027A>T (p.Arg343Ter) rs1313081073
NM_032638.5(GATA2):c.1031_1049del (p.Arg344fs) rs2107668749
NM_032638.5(GATA2):c.1035_1036insTCTGGCC (p.Gly346fs) rs2107668788
NM_032638.5(GATA2):c.1035_1038dup (p.Thr347fs) rs2107668769
NM_032638.5(GATA2):c.1038dup (p.Thr347fs)
NM_032638.5(GATA2):c.1041del (p.Cys348fs) rs2107668760
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg) rs1576745260
NM_032638.5(GATA2):c.1054del (p.Cys352fs) rs2107668739
NM_032638.5(GATA2):c.1060A>C (p.Thr354Pro) rs2107668727
NM_032638.5(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_032638.5(GATA2):c.1065_1067del (p.Thr358del) rs1576745225
NM_032638.5(GATA2):c.1066ACC[2] (p.Thr358del) rs2107668693
NM_032638.5(GATA2):c.1073C>A (p.Thr358Asn) rs148942346
NM_032638.5(GATA2):c.1082G>A (p.Arg361His) rs387906634
NM_032638.5(GATA2):c.1082G>T (p.Arg361Leu) rs387906634
NM_032638.5(GATA2):c.1082_1083dup (p.Arg362fs)
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter) rs1553770510
NM_032638.5(GATA2):c.1099del (p.Asp367fs) rs2107668647
NM_032638.5(GATA2):c.1099dup (p.Asp367fs) rs2107668647
NM_032638.5(GATA2):c.1103_1104del (p.Pro368fs) rs2107668641
NM_032638.5(GATA2):c.1113C>A (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1113C>G (p.Asn371Lys) rs376003468
NM_032638.5(GATA2):c.1113del (p.Asn371fs) rs2107668634
NM_032638.5(GATA2):c.1117T>C (p.Cys373Arg) rs387906633
NM_032638.5(GATA2):c.1122_1125dup (p.Tyr376fs) rs863224874
NM_032638.5(GATA2):c.1124del (p.Leu375fs) rs2107668601
NM_032638.5(GATA2):c.1126_1133dup (p.Lys378fs) rs2107668582
NM_032638.5(GATA2):c.1126_1143+54del
NM_032638.5(GATA2):c.1128C>G (p.Tyr376Ter) rs750890699
NM_032638.5(GATA2):c.1132A>T (p.Lys378Ter) rs2107668584
NM_032638.5(GATA2):c.1142del (p.Asn381fs) rs2107668566
NM_032638.5(GATA2):c.1143+200_1198del rs2107668041
NM_032638.5(GATA2):c.1143+2T>A rs2107668560
NM_032638.5(GATA2):c.1148dup (p.Asn383fs)
NM_032638.5(GATA2):c.1172_1175del (p.Glu391fs) rs2107668072
NM_032638.5(GATA2):c.1180C>T (p.Gln394Ter)
NM_032638.5(GATA2):c.1186C>T (p.Arg396Trp) rs1576744529
NM_032638.5(GATA2):c.1187G>A (p.Arg396Gln) rs1553770434
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_032638.5(GATA2):c.1193G>A (p.Arg398Gln) rs1420609104
NM_032638.5(GATA2):c.1196_1197insAG (p.Met400fs)
NM_032638.5(GATA2):c.1200_1216dup (p.Lys406fs) rs2107668010
NM_032638.5(GATA2):c.1217del (p.Lys406fs)
NM_032638.5(GATA2):c.1281dup (p.Phe428fs) rs2107667915
NM_032638.5(GATA2):c.130G>T (p.Glu44Ter) rs2107673544
NM_032638.5(GATA2):c.1339A>C (p.Ser447Arg) rs1576744275
NM_032638.5(GATA2):c.161C>A (p.Ser54Ter) rs2107673501
NM_032638.5(GATA2):c.177C>G (p.Tyr59Ter) rs146150325
NM_032638.5(GATA2):c.17_18del (p.Glu6fs) rs2107673777
NM_032638.5(GATA2):c.202del (p.Ala68fs)
NM_032638.5(GATA2):c.206_208delinsT (p.Arg69fs) rs2107673392
NM_032638.5(GATA2):c.207_208del (p.Val70fs) rs2107673397
NM_032638.5(GATA2):c.216C>G (p.Tyr72Ter) rs1254938356
NM_032638.5(GATA2):c.232dup (p.Arg78fs) rs1576749301
NM_032638.5(GATA2):c.243delinsGC (p.Gly82fs) rs869320735
NM_032638.5(GATA2):c.256del (p.Arg86fs) rs2107672967
NM_032638.5(GATA2):c.257_258del (p.Arg86fs) rs2107672963
NM_032638.5(GATA2):c.288_289del (p.Trp97fs)
NM_032638.5(GATA2):c.302del (p.Gly101fs) rs2107672888
NM_032638.5(GATA2):c.303del (p.Ala103fs) rs2107672881
NM_032638.5(GATA2):c.305_309del (p.Lys102fs)
NM_032638.5(GATA2):c.306del (p.Ala103fs) rs2107672869
NM_032638.5(GATA2):c.312_313dup (p.Leu105fs) rs1576749168
NM_032638.5(GATA2):c.317_318del (p.Ser106fs) rs2107672847
NM_032638.5(GATA2):c.318dup (p.Ala107fs) rs2107672844
NM_032638.5(GATA2):c.351C>G (p.Thr117=) rs2107672788
NM_032638.5(GATA2):c.353del (p.Val118fs) rs2107672783
NM_032638.5(GATA2):c.384dup (p.Ser129fs)
NM_032638.5(GATA2):c.404dup (p.Gly136fs) rs2107672730
NM_032638.5(GATA2):c.414_417del (p.Ser139fs) rs2107672708
NM_032638.5(GATA2):c.416_417del (p.Ser139fs) rs2107672708
NM_032638.5(GATA2):c.417dup (p.Val140fs) rs2107672703
NM_032638.5(GATA2):c.423C>A (p.Tyr141Ter) rs781744898
NM_032638.5(GATA2):c.423C>G (p.Tyr141Ter)
NM_032638.5(GATA2):c.437del (p.Gly146fs) rs2107672654
NM_032638.5(GATA2):c.437dup (p.Gly147fs) rs2107672654
NM_032638.5(GATA2):c.476_479dup (p.Pro161fs) rs2107672568
NM_032638.5(GATA2):c.522del (p.Thr176fs)
NM_032638.5(GATA2):c.538G>T (p.Glu180Ter) rs2107672419
NM_032638.5(GATA2):c.561dup (p.Thr188fs) rs1576748738
NM_032638.5(GATA2):c.579dup (p.Ala194fs) rs2107672336
NM_032638.5(GATA2):c.586_593dup (p.Gly199fs) rs2107672309
NM_032638.5(GATA2):c.58C>T (p.Gln20Ter) rs2107673689
NM_032638.5(GATA2):c.593del (p.Ala198fs) rs2107672306
NM_032638.5(GATA2):c.599del (p.Gly200fs) rs768767517
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer) rs768767517
NM_032638.5(GATA2):c.610C>T (p.Arg204Ter) rs1576748638
NM_032638.5(GATA2):c.627_630dup (p.Val211fs) rs2107672252
NM_032638.5(GATA2):c.649_653dup (p.Thr218_Glu219insTer) rs1553770949
NM_032638.5(GATA2):c.656_675del (p.Glu219fs)
NM_032638.5(GATA2):c.670G>T (p.Glu224Ter) rs2107672186
NM_032638.5(GATA2):c.685del (p.Leu229fs) rs2107672153
NM_032638.5(GATA2):c.710del (p.Gly237fs) rs2107672102
NM_032638.5(GATA2):c.735dup (p.Ile246fs) rs2107672055
NM_032638.5(GATA2):c.751_752dup (p.Tyr252fs) rs2107672019
NM_032638.5(GATA2):c.769_778dup (p.Tyr260fs) rs2107671965
NM_032638.5(GATA2):c.783_787dup (p.Gly263fs)
NM_032638.5(GATA2):c.793_802del (p.Phe265fs) rs2107671923
NM_032638.5(GATA2):c.801_802insCGCCCACGACTACAGCAGCGGACTCTTCCACCCC (p.Gly268fs)
NM_032638.5(GATA2):c.802G>T (p.Gly268Ter) rs764747992
NM_032638.5(GATA2):c.812dup (p.Pro274fs) rs2107671906
NM_032638.5(GATA2):c.817_818del (p.Gly273fs) rs1559986946
NM_032638.5(GATA2):c.818dup (p.Pro274fs) rs1559986946
NM_032638.5(GATA2):c.831del (p.Phe278fs) rs1576748378
NM_032638.5(GATA2):c.839dup (p.Pro280_Lys281insTer) rs1576748366
NM_032638.5(GATA2):c.83del (p.Gly28fs) rs2107673633
NM_032638.5(GATA2):c.869C>A (p.Ser290Ter) rs2068685370
NM_032638.5(GATA2):c.890_903dup (p.Ala302fs) rs1559986109
NM_032638.5(GATA2):c.892dup (p.Cys298fs) rs2107670484
NM_032638.5(GATA2):c.915_916del (p.Trp306fs) rs2107670467
NM_032638.5(GATA2):c.917G>A (p.Trp306Ter) rs2107670463
NM_032638.5(GATA2):c.932_937delinsG (p.Thr311fs) rs2107670425
NM_032638.5(GATA2):c.941_951del (p.Tyr314fs) rs2107670410
NM_032638.5(GATA2):c.941_951dup (p.Ala318fs) rs2107670410
NM_032638.5(GATA2):c.952G>A (p.Ala318Thr) rs2107670401
NM_032638.5(GATA2):c.956_962del (p.Cys319fs) rs2107670386
NM_032638.5(GATA2):c.968dup (p.His323fs) rs2107670366
NM_032638.5(GATA2):c.970_994dup (p.Leu332fs) rs2107670328
NM_032638.5(GATA2):c.971del (p.Lys324fs) rs1576746862
NM_032638.5(GATA2):c.982C>T (p.Gln328Ter) rs2107670346
NM_032638.5(GATA2):c.988C>T (p.Arg330Ter) rs1576746847
NM_032638.5(GATA2):c.989_992dup (p.Leu332fs) rs2107670331
NM_032638.5(GATA2):c.99C>A (p.Tyr33Ter)
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.10_17del (p.Glu4fs) rs778914298
NM_033337.3(CAV3):c.114+2T>C rs116840787
NM_033337.3(CAV3):c.136G>A (p.Ala46Thr) rs116840789
NM_033337.3(CAV3):c.191C>G (p.Thr64Ser) rs121909280
NM_033337.3(CAV3):c.196_197insTT (p.Thr66fs)
NM_033337.3(CAV3):c.253G>A (p.Ala85Thr) rs104893715
NM_033337.3(CAV3):c.263G>A (p.Trp88Ter)
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr) rs28936686
NM_033337.3(CAV3):c.40G>C (p.Val14Leu) rs121909281
NM_033337.3(CAV3):c.423C>G (p.Ser141Arg) rs104893713
NM_033337.3(CAV3):c.57C>A (p.Cys19Ter) rs1182984115
NM_033337.3(CAV3):c.79C>G (p.Arg27Gly) rs199476324
NM_033337.3(CAV3):c.79C>T (p.Arg27Ter) rs199476324
NM_033337.3(CAV3):c.99C>A (p.Asn33Lys) rs1008642
NM_033337.3(CAV3):c.99C>G (p.Asn33Lys) rs1008642
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_033360.4(KRAS):c.440A>G (p.Lys147Arg) rs1135401776
NM_033440.3(CELA2A):c.361G>A (p.Asp121Asn) rs1352544800
NM_033440.3(CELA2A):c.639+1G>C rs752331004
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.130del (p.Leu44fs)
NM_033629.6(TREX1):c.141_151del (p.Pro48fs)
NM_033629.6(TREX1):c.144del (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.150_151del (p.Gln51fs) rs770607110
NM_033629.6(TREX1):c.153_166del (p.Gln51fs) rs2107256093
NM_033629.6(TREX1):c.18dup (p.Pro7fs)
NM_033629.6(TREX1):c.205_206del (p.Leu69fs)
NM_033629.6(TREX1):c.212_213del (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.226_233dup (p.Ser78fs)
NM_033629.6(TREX1):c.236_243del (p.Pro79fs) rs1331920811
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.294_296dup (p.Cys99Ter)
NM_033629.6(TREX1):c.294dup (p.Cys99fs) rs760594164
NM_033629.6(TREX1):c.296_299dup (p.Phe100fs) rs763966000
NM_033629.6(TREX1):c.349C>T (p.Gln117Ter)
NM_033629.6(TREX1):c.366_367del (p.Ala123fs)
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662
NM_033629.6(TREX1):c.371_381del (p.His124fs)
NM_033629.6(TREX1):c.375dup (p.Gly126fs) rs1575292873
NM_033629.6(TREX1):c.399dup (p.Leu134fs) rs2107258834
NM_033629.6(TREX1):c.513del (p.His171fs)
NM_033629.6(TREX1):c.522_523delinsTT (p.Arg174_Lys175delinsSerTer)
NM_033629.6(TREX1):c.52G>A (p.Asp18Asn) rs121908117
NM_033629.6(TREX1):c.55dup (p.Met19fs)
NM_033629.6(TREX1):c.565C>T (p.Gln189Ter)
NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.598G>A (p.Asp200Asn) rs78846775
NM_033629.6(TREX1):c.5del (p.Gly2fs) rs2107254550
NM_033629.6(TREX1):c.621_622del (p.Ile207fs) rs781199890
NM_033629.6(TREX1):c.635del (p.Pro212fs) rs756664985
NM_033629.6(TREX1):c.69dup (p.Pro25fs)
NM_033629.6(TREX1):c.703_706dup (p.Thr236fs) rs1560113283
NM_033629.6(TREX1):c.703dup (p.Val235fs) rs1553820434
NM_033629.6(TREX1):c.76_80dup (p.Gln28fs)
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_053025.4(MYLK):c.2390+1G>C rs762794821
NM_053025.4(MYLK):c.2814_2815del (p.Val938_Ser939insTer)
NM_053025.4(MYLK):c.2824G>T (p.Glu942Ter)
NM_053025.4(MYLK):c.2965A>T (p.Lys989Ter)
NM_053025.4(MYLK):c.3072dup (p.Pro1025fs)
NM_053025.4(MYLK):c.3231C>A (p.Cys1077Ter) rs2108578389
NM_053025.4(MYLK):c.3265_3266del (p.Lys1089fs) rs1553803235
NM_053025.4(MYLK):c.3393dup (p.Thr1132fs) rs2108576783
NM_053025.4(MYLK):c.3652_3652+1del rs1553795301
NM_053025.4(MYLK):c.3715del (p.Gln1239fs) rs2059732940
NM_053025.4(MYLK):c.3751_3752del (p.Ala1251fs) rs2108340106
NM_053025.4(MYLK):c.3823C>T (p.Arg1275Ter) rs1382893400
NM_053025.4(MYLK):c.3876_3937del (p.Ser1293fs)
NM_053025.4(MYLK):c.3967dup (p.Val1323fs)
NM_053025.4(MYLK):c.4001dup (p.Ala1335fs) rs1553785222
NM_053025.4(MYLK):c.4093_4094del (p.Ser1365fs) rs2108273583
NM_053025.4(MYLK):c.4114del (p.Asp1372fs) rs2108273387
NM_053025.4(MYLK):c.4372C>T (p.Gln1458Ter) rs1553781304
NM_053025.4(MYLK):c.4404_4407del (p.Glu1468fs)
NM_053025.4(MYLK):c.4422del (p.Lys1474fs) rs2059058650
NM_053025.4(MYLK):c.4438C>T (p.Arg1480Ter) rs387906782
NM_053025.4(MYLK):c.4459C>T (p.Arg1487Ter) rs886229659
NM_053025.4(MYLK):c.4470G>A (p.Trp1490Ter) rs1047937861
NM_053025.4(MYLK):c.4471G>T (p.Ala1491Ser) rs1576422965
NM_053025.4(MYLK):c.4489_4493del (p.Ala1497fs) rs1060502531
NM_053025.4(MYLK):c.5169del (p.Lys1724fs) rs2107974888
NM_053025.4(MYLK):c.5275T>C (p.Ser1759Pro) rs387906781
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter) rs770780171
NM_053274.3(GLMN):c.1179_1181del (p.Asn393del) rs773442562
NM_053274.3(GLMN):c.1376del (p.Gly459fs) rs2100872124
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer) rs762515373
NM_053274.3(GLMN):c.1630G>T (p.Glu544Ter) rs1557497881
NM_053274.3(GLMN):c.395-1G>C
NM_053274.3(GLMN):c.586_589del (p.Glu196fs) rs925708240
NM_053274.3(GLMN):c.736-2886_1214+254delinsGG
NM_053274.3(GLMN):c.743dup (p.Leu248fs) rs754756178
NM_053274.3(GLMN):c.844_847del (p.Leu282fs) rs773060450
NM_053274.3(GLMN):c.980_984del
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro) rs397514662
NM_078480.3(PUF60):c.1072_1073delinsTTGACCCTGGCCCAGCCCC (p.Leu364fs) rs1554642573
NM_078480.3(PUF60):c.1154_1166del (p.Pro385fs) rs2130223089
NM_078480.3(PUF60):c.1309C>T (p.Gln437Ter) rs1554642022
NM_078480.3(PUF60):c.1342C>T (p.Arg448Ter) rs1563819620
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_078480.3(PUF60):c.1448T>C (p.Val483Ala) rs1563818514
NM_078480.3(PUF60):c.1471G>A (p.Gly491Arg) rs1816336903
NM_078480.3(PUF60):c.1569dup (p.Glu524Ter) rs1816322210
NM_078480.3(PUF60):c.208-1G>A rs1229324113
NM_078480.3(PUF60):c.219del (p.Lys72_Tyr73insTer) rs1586590135
NM_078480.3(PUF60):c.24+1G>C rs1064795388
NM_078480.3(PUF60):c.271C>T (p.Gln91Ter) rs1464053660
NM_078480.3(PUF60):c.284_285del (p.Leu95fs) rs1817027997
NM_078480.3(PUF60):c.382_383del (p.Met128fs) rs2130258214
NM_078480.3(PUF60):c.389G>A (p.Arg130His) rs1554643584
NM_078480.3(PUF60):c.407_410del (p.Ile136fs) rs1563826453
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del) rs1131692232
NM_078480.3(PUF60):c.505C>T (p.His169Tyr) rs398123001
NM_078480.3(PUF60):c.510+1G>A rs1816618311
NM_078480.3(PUF60):c.541G>A (p.Glu181Lys) rs1085307135
NM_078480.3(PUF60):c.612_630del (p.Asn207fs) rs1816565452
NM_078480.3(PUF60):c.628C>T (p.Gln210Ter) rs1816565787
NM_078480.3(PUF60):c.636_640del (p.Gln212fs)
NM_078480.3(PUF60):c.672dup (p.Phe225fs) rs2130247180
NM_078480.3(PUF60):c.712_713del (p.Ser238fs) rs1816555365
NM_078480.3(PUF60):c.746_747insCACAC (p.Gly250fs) rs1816551992
NM_078480.3(PUF60):c.822C>G (p.Tyr274Ter)
NM_078480.3(PUF60):c.848_849del (p.Ala283fs) rs2130242336
NM_078480.3(PUF60):c.852_853del (p.Ser285fs)
NM_078480.3(PUF60):c.860dup (p.Met287fs) rs2130242101
NM_078480.3(PUF60):c.901A>T (p.Lys301Ter) rs1563823411
NM_080424.4(SP110):c.1030C>T (p.Arg344Ter) rs199938221
NM_080424.4(SP110):c.1067C>A (p.Ser356Ter)
NM_080424.4(SP110):c.1114C>T (p.Arg372Ter) rs199713399
NM_080424.4(SP110):c.1116_1119del (p.Arg373fs) rs2148850717
NM_080424.4(SP110):c.1261C>T (p.Arg421Ter) rs927135298
NM_080424.4(SP110):c.1395dup (p.Val466fs) rs1560530550
NM_080424.4(SP110):c.1428_1429del (p.Tyr476_Lys477delinsTer) rs751020218
NM_080424.4(SP110):c.1631dup (p.Gln545fs) rs2078486744
NM_080424.4(SP110):c.1691del (p.Pro564fs) rs1245290762
NM_080424.4(SP110):c.1775_1778del (p.Val591_Ser592insTer) rs2106348318
NM_080424.4(SP110):c.1933del (p.Leu645fs) rs2106343198
NM_080424.4(SP110):c.299del (p.Tyr100fs)
NM_080424.4(SP110):c.40del (p.Gln14fs) rs397515362
NM_080424.4(SP110):c.436C>T (p.Gln146Ter) rs2148926458
NM_080424.4(SP110):c.463A>T (p.Arg155Ter)
NM_080424.4(SP110):c.642del (p.Ser215fs) rs397515361
NM_080424.4(SP110):c.699del (p.Asp234fs) rs2148917380
NM_080424.4(SP110):c.78_79delinsAT (p.Ile27Leu) rs397515572
NM_080424.4(SP110):c.80dup (p.His28fs)
NM_080424.4(SP110):c.886del (p.Ser296fs)
NM_080424.4(SP110):c.943del (p.Val315fs)
NM_080473.5(GATA5):c.46T>G (p.Tyr16Asp) rs1555897088
NM_080473.5(GATA5):c.569T>C (p.Val190Ala) rs782051102
NM_080473.5(GATA5):c.595C>G (p.Leu199Val) rs1555896779
NM_080473.5(GATA5):c.598T>G (p.Trp200Gly) rs1555896778
NM_080647.1:g.(?_19241636)_(21349222_?)del
NM_130468.3(CHST14):c.[403C>G;410T>A]
NM_130468.4(CHST14):c.145del (p.Ala48_Val49insTer) rs397518432
NM_130468.4(CHST14):c.156_166del (p.Ser53fs) rs1293915082
NM_130468.4(CHST14):c.160dup (p.Ser54fs) rs1566969054
NM_130468.4(CHST14):c.205A>T (p.Lys69Ter) rs267606730
NM_130468.4(CHST14):c.264del (p.Lys89fs)
NM_130468.4(CHST14):c.315del (p.Gln106fs)
NM_130468.4(CHST14):c.453dup (p.Cys152fs) rs1555410747
NM_130468.4(CHST14):c.486G>A (p.Trp162Ter)
NM_130468.4(CHST14):c.527_530delinsGACAG (p.Val176fs) rs1595869467
NM_130468.4(CHST14):c.676_682delinsGCTATGGGGCT (p.Lys226fs)
NM_130468.4(CHST14):c.711T>A (p.Tyr237Ter)
NM_130468.4(CHST14):c.755_851del (p.Ser252fs) rs1555410768
NM_130468.4(CHST14):c.783del (p.Glu262fs)
NM_130468.4(CHST14):c.797dup (p.Tyr266Ter) rs1595869602
NM_130468.4(CHST14):c.821G>C (p.Arg274Pro) rs397514706
NM_130468.4(CHST14):c.842C>T (p.Pro281Leu) rs267606729
NM_130468.4(CHST14):c.866G>C (p.Cys289Ser) rs267606731
NM_130468.4(CHST14):c.922C>T (p.Gln308Ter)
NM_130468.4(CHST14):c.981_1000dup (p.Glu334fs) rs1555410785
NM_133171.5(ELMO2):c.1065+1G>T
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_133171.5(ELMO2):c.2080del (p.Leu694fs) rs886037919
NM_133171.5(ELMO2):c.311dup (p.Met104fs) rs2145827538
NM_133433.4(NIPBL):c.7459del (p.Glu2487fs) rs1554034812
NM_133459.4(CCBE1):c.305G>C (p.Cys102Ser) rs121908251
NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg) rs121908252
NM_138295.5(PKD1L1):c.1387C>T (p.Gln463Ter)
NM_138295.5(PKD1L1):c.3601C>T (p.Gln1201Ter) rs1786435779
NM_138295.5(PKD1L1):c.4039C>T (p.Arg1347Ter) rs370984700
NM_138295.5(PKD1L1):c.4798_4799del (p.Gln1600fs)
NM_138295.5(PKD1L1):c.6473+2_6473+3del rs528302390
NM_144573.4(NEXN):c.1084A>T (p.Lys362Ter)
NM_144573.4(NEXN):c.1123G>T (p.Glu375Ter) rs1571150562
NM_144573.4(NEXN):c.1170del (p.Lys390fs)
NM_144573.4(NEXN):c.1228C>T (p.Gln410Ter) rs1557988499
NM_144573.4(NEXN):c.1233_1234insGCCGGGCCCGGTGGCTCACGCCTGTAATCCCAGCACATTGGGAGGCCGAGACTGGAGGATCACGAGTTCAGGAGATCGATACCATACANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAATTTGAACAACTG (p.Arg412delinsAlaGlyProGlyGlySerArgLeuTer) rs2102146999
NM_144573.4(NEXN):c.1348dup (p.Ser450fs) rs1553240600
NM_144573.4(NEXN):c.1450C>T (p.Arg484Ter) rs767792289
NM_144573.4(NEXN):c.1501A>T (p.Arg501Ter)
NM_144573.4(NEXN):c.1502del (p.Arg501fs) rs1425668712
NM_144573.4(NEXN):c.1536dup (p.Met513fs)
NM_144573.4(NEXN):c.166_169del (p.Arg56fs) rs765396527
NM_144573.4(NEXN):c.1831C>A (p.Pro611Thr) rs137853198
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del) rs397517853
NM_144573.4(NEXN):c.201G>A (p.Trp67Ter) rs999958582
NM_144573.4(NEXN):c.298G>T (p.Gly100Ter)
NM_144573.4(NEXN):c.354_357del (p.Lys119fs)
NM_144573.4(NEXN):c.461_464del (p.Asn154fs) rs794729088
NM_144573.4(NEXN):c.676del (p.Ser226fs)
NM_144573.4(NEXN):c.717dup (p.Glu240fs)
NM_144573.4(NEXN):c.784C>T (p.Arg262Ter) rs1002648603
NM_144573.4(NEXN):c.798del (p.Glu267fs)
NM_144573.4(NEXN):c.813_814insGG (p.Lys272fs)
NM_144573.4(NEXN):c.962del (p.Arg321fs) rs915318065
NM_145020.5(CFAP53):c.1004_1008del (p.Met335fs)
NM_145020.5(CFAP53):c.1213+1G>A rs2144412496
NM_145054.5(CFAP52):c.1304del (p.Gly435fs) rs1360832162
NM_147127.5(EVC2):c.104C>G (p.Ser35Ter) rs2151750076
NM_147127.5(EVC2):c.105_126dup (p.Gly43fs) rs1553855127
NM_147127.5(EVC2):c.1082_1095del (p.Asn361fs)
NM_147127.5(EVC2):c.1090del (p.Gln363_Met364insTer)
NM_147127.5(EVC2):c.1108del (p.Ser370fs) rs2108895910
NM_147127.5(EVC2):c.1132C>T (p.Gln378Ter)
NM_147127.5(EVC2):c.1163del (p.Leu388fs)
NM_147127.5(EVC2):c.116G>A (p.Trp39Ter) rs1345487794
NM_147127.5(EVC2):c.117G>A (p.Trp39Ter) rs2151750059
NM_147127.5(EVC2):c.1330C>T (p.Gln444Ter) rs372215987
NM_147127.5(EVC2):c.1332del (p.Glu445fs)
NM_147127.5(EVC2):c.133C>T (p.Gln45Ter) rs1477102573
NM_147127.5(EVC2):c.1341C>G (p.Tyr447Ter)
NM_147127.5(EVC2):c.1341_1342insT (p.Asp448Ter) rs1717259479
NM_147127.5(EVC2):c.1410C>G (p.Tyr470Ter) rs2108863739
NM_147127.5(EVC2):c.142_151del (p.Asp49fs) rs1221185345
NM_147127.5(EVC2):c.1453_1459dup (p.Ala487fs)
NM_147127.5(EVC2):c.1470+1dup rs1717244500
NM_147127.5(EVC2):c.1483_1484dup (p.Ser496fs) rs2108851802
NM_147127.5(EVC2):c.1519C>T (p.Gln507Ter)
NM_147127.5(EVC2):c.1529T>A (p.Leu510Ter) rs2108851695
NM_147127.5(EVC2):c.1541_1542del (p.Leu514fs) rs1560180583
NM_147127.5(EVC2):c.1588_1591del (p.Ala530fs)
NM_147127.5(EVC2):c.1606G>T (p.Glu536Ter) rs1284395468
NM_147127.5(EVC2):c.1639del (p.Ser547fs) rs2108851441
NM_147127.5(EVC2):c.1667_1668del (p.Pro556fs)
NM_147127.5(EVC2):c.1706del (p.Ile569fs)
NM_147127.5(EVC2):c.1755dup (p.Tyr586fs) rs2108847232
NM_147127.5(EVC2):c.1791T>G (p.Tyr597Ter)
NM_147127.5(EVC2):c.1807_1808del (p.Gln603fs)
NM_147127.5(EVC2):c.1857_1866del (p.Gln619fs) rs2108847014
NM_147127.5(EVC2):c.1939_1945del (p.Thr647fs)
NM_147127.5(EVC2):c.194_198dup (p.Ser67fs) rs992326794
NM_147127.5(EVC2):c.1967T>A (p.Leu656Ter) rs1367694162
NM_147127.5(EVC2):c.1987G>T (p.Glu663Ter)
NM_147127.5(EVC2):c.1991dup (p.Lys665fs) rs2108843224
NM_147127.5(EVC2):c.199_208del (p.Ser67fs) rs1420414097
NM_147127.5(EVC2):c.199_208dup (p.Gly70fs)
NM_147127.5(EVC2):c.2010del (p.Lys670fs) rs2108843186
NM_147127.5(EVC2):c.2017_2021del (p.Thr673fs) rs2108843144
NM_147127.5(EVC2):c.2019dup (p.Lys674Ter) rs2108843158
NM_147127.5(EVC2):c.2026_2027insTTCT (p.Arg676fs)
NM_147127.5(EVC2):c.2029C>T (p.Arg677Ter) rs73198165
NM_147127.5(EVC2):c.2041C>T (p.Gln681Ter)
NM_147127.5(EVC2):c.2056C>T (p.Gln686Ter)
NM_147127.5(EVC2):c.2057del (p.Gln686fs)
NM_147127.5(EVC2):c.205del (p.Ala69fs) rs1400121444
NM_147127.5(EVC2):c.2068C>T (p.Gln690Ter)
NM_147127.5(EVC2):c.2069_2070del (p.Gln690fs) rs1715829134
NM_147127.5(EVC2):c.207_211dup (p.Pro71fs)
NM_147127.5(EVC2):c.208_212dup (p.Glu72fs)
NM_147127.5(EVC2):c.2148_2149dup (p.His717fs)
NM_147127.5(EVC2):c.2150_2156del (p.His717fs)
NM_147127.5(EVC2):c.2161del (p.Leu721fs)
NM_147127.5(EVC2):c.2188C>T (p.Gln730Ter) rs2108839112
NM_147127.5(EVC2):c.2281del (p.Gln761fs)
NM_147127.5(EVC2):c.2332del (p.Glu778fs)
NM_147127.5(EVC2):c.2365G>T (p.Glu789Ter)
NM_147127.5(EVC2):c.2368C>T (p.Gln790Ter) rs1577170055
NM_147127.5(EVC2):c.2380G>T (p.Glu794Ter)
NM_147127.5(EVC2):c.2386_2387del (p.Arg796fs)
NM_147127.5(EVC2):c.2405del (p.Gly802fs) rs2108838579
NM_147127.5(EVC2):c.2410C>T (p.Gln804Ter)
NM_147127.5(EVC2):c.2483G>A (p.Trp828Ter) rs1715768907
NM_147127.5(EVC2):c.24del (p.Arg9fs) rs2151750195
NM_147127.5(EVC2):c.2516_2517delinsAG (p.Ser839Ter)
NM_147127.5(EVC2):c.2524_2536del (p.Ser842fs) rs2108833500
NM_147127.5(EVC2):c.2533G>T (p.Glu845Ter)
NM_147127.5(EVC2):c.253A>T (p.Lys85Ter) rs2151739558
NM_147127.5(EVC2):c.2540_2549del (p.Glu847fs)
NM_147127.5(EVC2):c.2619_2629del (p.Arg874fs)
NM_147127.5(EVC2):c.2632C>T (p.Gln878Ter)
NM_147127.5(EVC2):c.2637_2638dup (p.Phe880fs) rs2108833230
NM_147127.5(EVC2):c.2652G>A (p.Trp884Ter) rs981099037
NM_147127.5(EVC2):c.2680C>T (p.Gln894Ter)
NM_147127.5(EVC2):c.2698G>T (p.Glu900Ter)
NM_147127.5(EVC2):c.2729C>G (p.Ser910Ter) rs2108829049
NM_147127.5(EVC2):c.273dup (p.Lys92Ter) rs2151739536
NM_147127.5(EVC2):c.2746del (p.Ser916fs) rs886037763
NM_147127.5(EVC2):c.2750del (p.Lys917fs)
NM_147127.5(EVC2):c.2796_2797del (p.Cys932_Glu933delinsTer) rs765076649
NM_147127.5(EVC2):c.2833C>T (p.Arg945Ter) rs1301855639
NM_147127.5(EVC2):c.2843T>A (p.Leu948Ter)
NM_147127.5(EVC2):c.2856_2857del (p.Arg952fs)
NM_147127.5(EVC2):c.2867_2879del (p.Met956fs)
NM_147127.5(EVC2):c.2881G>T (p.Gly961Ter)
NM_147127.5(EVC2):c.2892del (p.Gln965fs)
NM_147127.5(EVC2):c.2893C>T (p.Gln965Ter)
NM_147127.5(EVC2):c.2893_2894del (p.Gln965fs)
NM_147127.5(EVC2):c.2897C>A (p.Ser966Ter) rs145425340
NM_147127.5(EVC2):c.2944_2945del (p.Leu982fs)
NM_147127.5(EVC2):c.2954del (p.Tyr985fs) rs2108788549
NM_147127.5(EVC2):c.2989G>T (p.Glu997Ter)
NM_147127.5(EVC2):c.3023C>A (p.Ser1008Ter) rs60809236
NM_147127.5(EVC2):c.3057+1del rs772639262
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs) rs1391194715
NM_147127.5(EVC2):c.30dup (p.Thr11fs) rs1442303442
NM_147127.5(EVC2):c.3140G>A (p.Trp1047Ter) rs200560762
NM_147127.5(EVC2):c.3141G>A (p.Trp1047Ter) rs886037764
NM_147127.5(EVC2):c.314del (p.Lys105fs)
NM_147127.5(EVC2):c.3194del (p.Asp1065fs) rs2108778725
NM_147127.5(EVC2):c.3239del (p.Lys1080fs) rs1291275281
NM_147127.5(EVC2):c.3251T>A (p.Leu1084Ter)
NM_147127.5(EVC2):c.3252dup (p.Leu1085fs)
NM_147127.5(EVC2):c.3346dup (p.Thr1116fs) rs1722814486
NM_147127.5(EVC2):c.3360+1G>A rs1553815019
NM_147127.5(EVC2):c.3374dup (p.Ser1126fs)
NM_147127.5(EVC2):c.3405_3411del (p.Gly1136fs) rs750396637
NM_147127.5(EVC2):c.3446_3455dup (p.Gln1152fs) rs1722452431
NM_147127.5(EVC2):c.3454_3461del (p.Gln1152fs)
NM_147127.5(EVC2):c.3454_3461dup (p.Gln1154fs) rs1722451930
NM_147127.5(EVC2):c.3458_3476del (p.Pro1153fs) rs778793911
NM_147127.5(EVC2):c.3487_3488dup (p.Glu1164fs) rs2108770774
NM_147127.5(EVC2):c.3542_3543insACGA (p.Asp1181fs)
NM_147127.5(EVC2):c.3598C>T (p.Arg1200Ter) rs1305301849
NM_147127.5(EVC2):c.3634delinsGA (p.Leu1212fs) rs1553812417
NM_147127.5(EVC2):c.3637_3638insTT (p.Trp1213fs)
NM_147127.5(EVC2):c.3640del (p.Ala1214fs) rs1577095782
NM_147127.5(EVC2):c.3648_3649delinsTT (p.Lys1216_Arg1217delinsAsnTer) rs2108767230
NM_147127.5(EVC2):c.3655C>T (p.Gln1219Ter) rs369739594
NM_147127.5(EVC2):c.369_370del (p.Trp123fs)
NM_147127.5(EVC2):c.3734C>A (p.Ser1245Ter)
NM_147127.5(EVC2):c.3751G>T (p.Glu1251Ter) rs769520928
NM_147127.5(EVC2):c.3797T>G (p.Leu1266Ter) rs1577093161
NM_147127.5(EVC2):c.390dup (p.Ile131fs) rs1253403779
NM_147127.5(EVC2):c.392dup (p.Pro132fs) rs774416029
NM_147127.5(EVC2):c.420del (p.Phe140fs)
NM_147127.5(EVC2):c.437_438dup (p.Thr147Ter)
NM_147127.5(EVC2):c.449del (p.Leu150fs)
NM_147127.5(EVC2):c.50dup (p.Leu18fs) rs1553855151
NM_147127.5(EVC2):c.519+1G>A
NM_147127.5(EVC2):c.519+2T>C rs1721102486
NM_147127.5(EVC2):c.519+2T>G
NM_147127.5(EVC2):c.534dup (p.Glu179Ter) rs1553851462
NM_147127.5(EVC2):c.557G>A (p.Trp186Ter)
NM_147127.5(EVC2):c.599_602dup (p.Glu202fs)
NM_147127.5(EVC2):c.645G>A (p.Trp215Ter) rs779857359
NM_147127.5(EVC2):c.655G>T (p.Gly219Ter) rs745404766
NM_147127.5(EVC2):c.668C>A (p.Ser223Ter) rs999964757
NM_147127.5(EVC2):c.670dup (p.Glu224fs)
NM_147127.5(EVC2):c.703C>T (p.Gln235Ter)
NM_147127.5(EVC2):c.707-2A>C rs1302074641
NM_147127.5(EVC2):c.769G>T (p.Glu257Ter) rs1553850677
NM_147127.5(EVC2):c.790C>T (p.Gln264Ter)
NM_147127.5(EVC2):c.802C>T (p.Gln268Ter) rs2151728030
NM_147127.5(EVC2):c.80dup (p.Arg28fs)
NM_147127.5(EVC2):c.816+1G>T rs1355905411
NM_147127.5(EVC2):c.816+2T>C rs1294715119
NM_147127.5(EVC2):c.820A>T (p.Arg274Ter) rs2151724149
NM_147127.5(EVC2):c.821_824del (p.Arg274fs) rs1368193719
NM_147127.5(EVC2):c.826_827del (p.Gln276fs) rs758841632
NM_147127.5(EVC2):c.850del (p.Thr284fs) rs886044525
NM_147127.5(EVC2):c.86del (p.Gly29fs)
NM_147127.5(EVC2):c.871-2_894del rs755789146
NM_147127.5(EVC2):c.876_892dup (p.His298fs) rs2108900159
NM_147127.5(EVC2):c.903del (p.Phe302fs) rs1560208675
NM_147127.5(EVC2):c.90_91delinsAT (p.Cys30_Leu31delinsTer)
NM_147127.5(EVC2):c.942G>A (p.Trp314Ter) rs763363403
NM_152594.3(SPRED1):c.1011C>A (p.Tyr337Ter) rs2141016437
NM_152594.3(SPRED1):c.1015C>T (p.Gln339Ter) rs1566876895
NM_152594.3(SPRED1):c.1035_1047del (p.Gly350fs)
NM_152594.3(SPRED1):c.103G>T (p.Gly35Ter) rs1555389690
NM_152594.3(SPRED1):c.1043_1044insCAGGGGAAAATGT (p.Cys352_Gln353insTer)
NM_152594.3(SPRED1):c.1044_1046delinsC (p.Arg349fs) rs1566876929
NM_152594.3(SPRED1):c.1044_1056del (p.Gly350fs) rs2141016462
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs) rs1566876941
NM_152594.3(SPRED1):c.1053del (p.Lys351fs) rs1566876954
NM_152594.3(SPRED1):c.1073del (p.Pro358fs)
NM_152594.3(SPRED1):c.1091_1106del (p.Tyr364fs)
NM_152594.3(SPRED1):c.1099_1102del (p.Ser367fs) rs1555392783
NM_152594.3(SPRED1):c.1117G>T (p.Glu373Ter)
NM_152594.3(SPRED1):c.1132_1139del (p.His378fs) rs2141016553
NM_152594.3(SPRED1):c.1142C>G (p.Ser381Ter)
NM_152594.3(SPRED1):c.1142del (p.Met380_Ser381insTer)
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs) rs1595763925
NM_152594.3(SPRED1):c.1151_1152del (p.Glu384fs) rs878855228
NM_152594.3(SPRED1):c.1151del (p.Glu384fs) rs1595763928
NM_152594.3(SPRED1):c.1175C>A (p.Ser392Ter) rs1345810751
NM_152594.3(SPRED1):c.1207C>T (p.Arg403Ter)
NM_152594.3(SPRED1):c.1211G>A (p.Trp404Ter)
NM_152594.3(SPRED1):c.1224del (p.Ala409fs)
NM_152594.3(SPRED1):c.1232_1241del (p.Ser411fs) rs2141016685
NM_152594.3(SPRED1):c.1235dup (p.Ile413fs)
NM_152594.3(SPRED1):c.1237_1238del (p.Ile413fs) rs2141016692
NM_152594.3(SPRED1):c.1273del (p.Met425fs) rs2141016737
NM_152594.3(SPRED1):c.131T>A (p.Val44Asp) rs121434318
NM_152594.3(SPRED1):c.148C>T (p.Gln50Ter) rs148646547
NM_152594.3(SPRED1):c.177del (p.Phe59fs)
NM_152594.3(SPRED1):c.177dup (p.Ile60fs) rs1895110802
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter) rs121434315
NM_152594.3(SPRED1):c.1A>G (p.Met1Val) rs1894017295
NM_152594.3(SPRED1):c.229A>T (p.Lys77Ter) rs727504170
NM_152594.3(SPRED1):c.234dup (p.Asp79fs) rs1566867209
NM_152594.3(SPRED1):c.272del (p.His91fs)
NM_152594.3(SPRED1):c.291del (p.Lys98fs)
NM_152594.3(SPRED1):c.301_307del (p.Leu101fs) rs1566867246
NM_152594.3(SPRED1):c.305C>G (p.Thr102Arg) rs754706111
NM_152594.3(SPRED1):c.305del (p.Thr102fs) rs2140994872
NM_152594.3(SPRED1):c.306_307dup (p.Phe103fs) rs1595746834
NM_152594.3(SPRED1):c.326_329dup (p.Arg110delinsSerTer) rs1595746858
NM_152594.3(SPRED1):c.328del (p.Arg110fs)
NM_152594.3(SPRED1):c.342_343del (p.Gly115fs) rs1555391061
NM_152594.3(SPRED1):c.342_349dup (p.Arg117fs)
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter) rs121434312
NM_152594.3(SPRED1):c.355dup (p.Ala119fs) rs1895621783
NM_152594.3(SPRED1):c.384dup (p.Glu129fs) rs1566868022
NM_152594.3(SPRED1):c.385G>T (p.Glu129Ter) rs764823722
NM_152594.3(SPRED1):c.395dup (p.Asn132fs) rs1895677481
NM_152594.3(SPRED1):c.3G>A (p.Met1Ile) rs1324903101
NM_152594.3(SPRED1):c.408_409dup (p.Ala137fs)
NM_152594.3(SPRED1):c.40del (p.Tyr14fs) rs2140978331
NM_152594.3(SPRED1):c.421C>T (p.Gln141Ter) rs1060502505
NM_152594.3(SPRED1):c.423+1G>A rs1566868058
NM_152594.3(SPRED1):c.423+2T>C rs1555391161
NM_152594.3(SPRED1):c.42T>G (p.Tyr14Ter)
NM_152594.3(SPRED1):c.461del (p.Asp154fs)
NM_152594.3(SPRED1):c.475del (p.Gln159fs) rs2141007796
NM_152594.3(SPRED1):c.490_491dup (p.Ser165fs)
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter) rs750777752
NM_152594.3(SPRED1):c.565C>T (p.Gln189Ter)
NM_152594.3(SPRED1):c.613C>T (p.Gln205Ter) rs2141014847
NM_152594.3(SPRED1):c.619A>T (p.Arg207Ter) rs368660900
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.676C>T (p.Gln226Ter) rs1555392609
NM_152594.3(SPRED1):c.684+1G>T
NM_152594.3(SPRED1):c.692del (p.Pro230_Leu231insTer) rs2141016007
NM_152594.3(SPRED1):c.696del (p.Lys232fs)
NM_152594.3(SPRED1):c.719_725del (p.Gln240fs)
NM_152594.3(SPRED1):c.724G>T (p.Glu242Ter)
NM_152594.3(SPRED1):c.783C>A (p.Tyr261Ter) rs1888473716
NM_152594.3(SPRED1):c.784A>T (p.Arg262Ter) rs121434317
NM_152594.3(SPRED1):c.794dup (p.Asp265fs) rs2141016108
NM_152594.3(SPRED1):c.796_797del (p.Met266fs) rs864622410
NM_152594.3(SPRED1):c.7_20del (p.Glu3fs) rs1555386651
NM_152594.3(SPRED1):c.800G>A (p.Trp267Ter) rs1595763557
NM_152594.3(SPRED1):c.841C>T (p.Gln281Ter) rs755557783
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
NM_152594.3(SPRED1):c.900dup (p.Lys301Ter) rs1595763656
NM_152594.3(SPRED1):c.903_906del (p.Leu302fs) rs1595763662
NM_152594.3(SPRED1):c.906_910del (p.Leu302fs) rs1595763659
NM_152594.3(SPRED1):c.923_924del (p.Ser308fs) rs1555392759
NM_152594.3(SPRED1):c.950C>G (p.Ser317Ter)
NM_152594.3(SPRED1):c.96_97insT (p.Pro33fs)
NM_152594.3(SPRED1):c.973C>T (p.Arg325Ter) rs1057518683
NM_153485.3(NUP155):c.1172G>A (p.Arg391His) rs587777339
NM_153717.3(EVC):c.-1_1delinsTT (p.Met1Leu)
NM_153717.3(EVC):c.1036_1037del (p.Leu346fs) rs767913372
NM_153717.3(EVC):c.1047_1048del (p.Arg349fs) rs745627738
NM_153717.3(EVC):c.1056_1059dup (p.Glu354fs) rs1553873969
NM_153717.3(EVC):c.1060G>T (p.Glu354Ter) rs779915989
NM_153717.3(EVC):c.1084G>T (p.Glu362Ter)
NM_153717.3(EVC):c.1086del (p.Glu362fs)
NM_153717.3(EVC):c.1114del (p.Thr372fs)
NM_153717.3(EVC):c.1122dup (p.Arg375fs)
NM_153717.3(EVC):c.1168C>T (p.Gln390Ter) rs1560340266
NM_153717.3(EVC):c.1228G>T (p.Glu410Ter) rs2152076522
NM_153717.3(EVC):c.1233dup (p.Lys412fs)
NM_153717.3(EVC):c.1257_1259delinsAGTT (p.Glu420fs) rs1730623318
NM_153717.3(EVC):c.1269_1278del (p.Gln424fs)
NM_153717.3(EVC):c.1290_1291delinsAA (p.Trp430_Gln431delinsTer) rs2152076745
NM_153717.3(EVC):c.1312del (p.Arg438fs) rs1560340993
NM_153717.3(EVC):c.1327C>T (p.Arg443Ter) rs1730760070
NM_153717.3(EVC):c.1373del (p.Gly458fs) rs760607210
NM_153717.3(EVC):c.1405_1415dup (p.Ser472fs) rs1553876034
NM_153717.3(EVC):c.1412_1413del (p.Arg471fs)
NM_153717.3(EVC):c.1462G>T (p.Glu488Ter)
NM_153717.3(EVC):c.1494del (p.Arg498fs) rs2152094799
NM_153717.3(EVC):c.1501C>T (p.Gln501Ter) rs373088008
NM_153717.3(EVC):c.1539del (p.Glu514fs) rs759106605
NM_153717.3(EVC):c.1554dup (p.Leu519fs) rs1553876870
NM_153717.3(EVC):c.155del (p.Arg52fs) rs1439712140
NM_153717.3(EVC):c.1572C>G (p.Tyr524Ter)
NM_153717.3(EVC):c.157C>T (p.Gln53Ter)
NM_153717.3(EVC):c.1618del (p.Leu540fs)
NM_153717.3(EVC):c.1652del (p.Pro551fs) rs1312383000
NM_153717.3(EVC):c.1652dup (p.Glu552fs)
NM_153717.3(EVC):c.1657G>T (p.Glu553Ter)
NM_153717.3(EVC):c.1678G>T (p.Glu560Ter) rs764397417
NM_153717.3(EVC):c.1684C>T (p.Gln562Ter) rs751772225
NM_153717.3(EVC):c.1687G>T (p.Glu563Ter) rs539010490
NM_153717.3(EVC):c.16del (p.Ala6fs) rs2151766718
NM_153717.3(EVC):c.174+1G>T rs2151768710
NM_153717.3(EVC):c.1746_1747del (p.Phe583fs) rs2152289369
NM_153717.3(EVC):c.1750del (p.Gln584fs) rs1736000365
NM_153717.3(EVC):c.1750dup (p.Gln584fs)
NM_153717.3(EVC):c.1777-2A>C
NM_153717.3(EVC):c.1783_1886+40del rs2152326431
NM_153717.3(EVC):c.1813C>T (p.Gln605Ter) rs1553889992
NM_153717.3(EVC):c.1818_1821del (p.His607fs) rs2152326544
NM_153717.3(EVC):c.1864C>T (p.Arg622Ter) rs1329006994
NM_153717.3(EVC):c.186_187del (p.Gln63fs)
NM_153717.3(EVC):c.1884_1885insCA (p.Glu629fs) rs2152326770
NM_153717.3(EVC):c.1886+5G>A rs794726665
NM_153717.3(EVC):c.1900del (p.Val634fs)
NM_153717.3(EVC):c.1971del (p.Thr658fs) rs2152340509
NM_153717.3(EVC):c.1A>C (p.Met1Leu)
NM_153717.3(EVC):c.2029C>T (p.Gln677Ter)
NM_153717.3(EVC):c.203del (p.Asn68fs) rs1560274093
NM_153717.3(EVC):c.2079G>A (p.Trp693Ter)
NM_153717.3(EVC):c.2088_2089dup (p.Arg697fs)
NM_153717.3(EVC):c.2089_2090del (p.Arg697fs)
NM_153717.3(EVC):c.2126_2129dup (p.Glu711fs)
NM_153717.3(EVC):c.2145_2146insGCCC (p.Gln716fs) rs2152345583
NM_153717.3(EVC):c.2146C>T (p.Gln716Ter) rs1714412021
NM_153717.3(EVC):c.2164C>T (p.Gln722Ter) rs1553891936
NM_153717.3(EVC):c.2167C>T (p.Gln723Ter)
NM_153717.3(EVC):c.2191G>T (p.Glu731Ter)
NM_153717.3(EVC):c.2365del (p.Leu789fs)
NM_153717.3(EVC):c.2376del (p.Tyr793fs) rs1577638781
NM_153717.3(EVC):c.2379T>G (p.Tyr793Ter)
NM_153717.3(EVC):c.2382C>A (p.Tyr794Ter)
NM_153717.3(EVC):c.2399_2408del (p.Ile800fs)
NM_153717.3(EVC):c.241dup (p.Ser81fs)
NM_153717.3(EVC):c.2457del (p.Met820fs) rs794726666
NM_153717.3(EVC):c.2472dup (p.Leu825fs)
NM_153717.3(EVC):c.2488G>T (p.Glu830Ter) rs2152375194
NM_153717.3(EVC):c.248C>G (p.Ser83Ter)
NM_153717.3(EVC):c.24del (p.Ala7_Cys8insTer) rs1553857828
NM_153717.3(EVC):c.2518_2528del (p.Thr840fs)
NM_153717.3(EVC):c.2545C>T (p.Gln849Ter) rs561852174
NM_153717.3(EVC):c.2561+1G>A rs1553894457
NM_153717.3(EVC):c.2561+1dup rs2152375437
NM_153717.3(EVC):c.25A>T (p.Lys9Ter) rs1425513399
NM_153717.3(EVC):c.2634_2635delinsTT (p.Gln878_Gln879delinsHisTer) rs2152387847
NM_153717.3(EVC):c.2662G>T (p.Glu888Ter)
NM_153717.3(EVC):c.267_274del (p.Glu89fs) rs2151842413
NM_153717.3(EVC):c.2686C>T (p.Gln896Ter)
NM_153717.3(EVC):c.2698C>T (p.Gln900Ter) rs1039706882
NM_153717.3(EVC):c.2705del (p.Phe902fs) rs2152391901
NM_153717.3(EVC):c.2782+1del rs1169539647
NM_153717.3(EVC):c.286A>T (p.Lys96Ter) rs2151842550
NM_153717.3(EVC):c.2T>A (p.Met1Lys) rs1553857801
NM_153717.3(EVC):c.338dup (p.Ala114fs) rs2151919221
NM_153717.3(EVC):c.363C>A (p.Tyr121Ter) rs748523193
NM_153717.3(EVC):c.369del (p.Asn124fs)
NM_153717.3(EVC):c.37_38del (p.Arg13fs) rs1722986802
NM_153717.3(EVC):c.393del (p.Asp132fs) rs1437174284
NM_153717.3(EVC):c.478_481del (p.Ser160fs) rs2151935449
NM_153717.3(EVC):c.528del (p.Ser177fs) rs1381525157
NM_153717.3(EVC):c.539C>A (p.Ser180Ter) rs762136199
NM_153717.3(EVC):c.568dup (p.Arg190fs)
NM_153717.3(EVC):c.583del (p.Arg194_Val195insTer) rs2151935987
NM_153717.3(EVC):c.596del (p.Pro199fs)
NM_153717.3(EVC):c.612C>A (p.Cys204Ter) rs553634958
NM_153717.3(EVC):c.613G>T (p.Glu205Ter)
NM_153717.3(EVC):c.618-2A>G
NM_153717.3(EVC):c.62_68dup (p.Pro25fs)
NM_153717.3(EVC):c.635del (p.Cys212fs) rs2151945937
NM_153717.3(EVC):c.641dup (p.Tyr214Ter)
NM_153717.3(EVC):c.653T>G (p.Leu218Ter)
NM_153717.3(EVC):c.673del (p.Asp225fs) rs2151946081
NM_153717.3(EVC):c.698dup (p.His233fs) rs1553867117
NM_153717.3(EVC):c.708dup (p.Ile237fs)
NM_153717.3(EVC):c.720dup (p.Lys241Ter) rs1553871764
NM_153717.3(EVC):c.721A>T (p.Lys241Ter) rs2152000498
NM_153717.3(EVC):c.724dup (p.Met242fs) rs1577395250
NM_153717.3(EVC):c.735del (p.Asp246fs) rs587776619
NM_153717.3(EVC):c.752dup (p.Lys252fs) rs1553871792
NM_153717.3(EVC):c.784del (p.Leu262fs) rs1560315890
NM_153717.3(EVC):c.784dup (p.Leu262fs)
NM_153717.3(EVC):c.788C>G (p.Ser263Ter) rs2152001027
NM_153717.3(EVC):c.801dup (p.Asp268fs) rs777852863
NM_153717.3(EVC):c.829C>T (p.Gln277Ter) rs1251648799
NM_153717.3(EVC):c.872_873del (p.Asp290_Ser291insTer)
NM_153717.3(EVC):c.903_909delinsTC (p.Lys301fs) rs1729197529
NM_153717.3(EVC):c.90del (p.Ala31fs) rs1196950486
NM_153717.3(EVC):c.910dup (p.Arg304fs) rs1428798262
NM_153717.3(EVC):c.922_923del (p.Glu308fs) rs1729200967
NM_153717.3(EVC):c.958C>T (p.Gln320Ter)
NM_153717.3(EVC):c.973C>T (p.Gln325Ter) rs1729654379
NM_153717.3(EVC):c.986_987del (p.Val329fs)
NM_170707.2(LMNA):c.(?_1)_(356_?)del
NM_170707.4(LMNA):c.1063C>T (p.Gln355Ter) rs267607617
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys) rs60458016
NM_170707.4(LMNA):c.1086del (p.Leu363fs) rs58389804
NM_170707.4(LMNA):c.1130G>A (p.Arg377His) rs61672878
NM_170707.4(LMNA):c.1147GAG[2] (p.Glu385del) rs1553265761
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) rs1057515421
NM_170707.4(LMNA):c.1304_1307dup (p.Ser437fs) rs267607577
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) rs58932704
NM_170707.4(LMNA):c.1381-2A>C
NM_170707.4(LMNA):c.1401G>A (p.Trp467Ter) rs794728613
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter) rs56699480
NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter) rs57730570
NM_170707.4(LMNA):c.1549_1550del (p.Gln517fs)
NM_170707.4(LMNA):c.1559G>A (p.Trp520Ter) rs58362413
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+1G>A rs267607592
NM_170707.4(LMNA):c.1608+5G>C rs267607539
NM_170707.4(LMNA):c.1609-3C>G rs267607581
NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly) rs56984562
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.1641del (p.Thr548fs)
NM_170707.4(LMNA):c.169G>C (p.Ala57Pro) rs28928903
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) rs61046466
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys) rs918645468
NM_170707.4(LMNA):c.176T>G (p.Leu59Arg) rs58922911
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly) rs28928900
NM_170707.4(LMNA):c.1824C>T (p.Gly608=) rs58596362
NM_170707.4(LMNA):c.244G>A (p.Glu82Lys) rs59270054
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.348dup (p.Lys117fs) rs267607646
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) rs60864230
NM_170707.4(LMNA):c.3G>A (p.Met1Ile) rs794728598
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.513+45T>G rs878853220
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
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.700C>T (p.Gln234Ter) rs267607573
NM_170707.4(LMNA):c.710T>C (p.Phe237Ser) rs730880132
NM_170707.4(LMNA):c.711_729delinsCC (p.Glu238fs) rs1572359848
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.4(LMNA):c.799T>C (p.Tyr267His) rs267607593
NM_170707.4(LMNA):c.810+1G>C rs267607632
NM_170707.4(LMNA):c.898G>A (p.Asp300Asn) rs267607591
NM_170707.4(LMNA):c.908_909del (p.Ser303fs) rs59684335
NM_170707.4(LMNA):c.958del (p.Leu320fs) rs397517915
NM_170707.4(LMNA):c.960del (p.Arg321fs) rs56771886
NM_170707.4(LMNA):c.961C>T (p.Arg321Ter) rs267607554
NM_172201.2(KCNE2):c.178T>C (p.Phe60Leu) rs16991654
NM_174934.4(SCN4B):c.485T>G (p.Val162Gly) rs587777559
NM_174934.4(SCN4B):c.496A>C (p.Ile166Leu) rs587777560
NM_176795.5(HRAS):c.488_497del (p.Leu163fs) rs764755556
NM_181486.4(TBX5):c.100dup (p.Ala34fs)
NM_181486.4(TBX5):c.1012del (p.Tyr338fs) rs2136360335
NM_181486.4(TBX5):c.1037C>A (p.Ser346Ter) rs2136360259
NM_181486.4(TBX5):c.1045G>T (p.Glu349Ter) rs1565923887
NM_181486.4(TBX5):c.105del (p.Ser36fs) rs1057516042
NM_181486.4(TBX5):c.105dup (p.Ser36fs) rs1057516042
NM_181486.4(TBX5):c.1074del (p.Pro359fs)
NM_181486.4(TBX5):c.1084C>T (p.Gln362Ter) rs765204502
NM_181486.4(TBX5):c.1104C>G (p.Tyr368Ter) rs1565923835
NM_181486.4(TBX5):c.1115_1116delinsAGGCGCTCCTACA (p.Ser372Ter) rs1593836748
NM_181486.4(TBX5):c.1158dup (p.Ser387fs) rs1064795870
NM_181486.4(TBX5):c.116del (p.Pro39fs)
NM_181486.4(TBX5):c.119C>A (p.Ser40Ter) rs903933027
NM_181486.4(TBX5):c.1203G>A (p.Trp401Ter) rs377649723
NM_181486.4(TBX5):c.1221C>G (p.Tyr407Ter) rs1555223259
NM_181486.4(TBX5):c.1269C>G (p.Tyr423Ter) rs756049331
NM_181486.4(TBX5):c.1303del (p.Leu435fs)
NM_181486.4(TBX5):c.1346del (p.Gln449fs)
NM_181486.4(TBX5):c.142C>T (p.Gln48Ter) rs863223777
NM_181486.4(TBX5):c.148-2A>C
NM_181486.4(TBX5):c.148-3C>A
NM_181486.4(TBX5):c.154G>T (p.Glu52Ter) rs1208004863
NM_181486.4(TBX5):c.161T>C (p.Ile54Thr) rs104894384
NM_181486.4(TBX5):c.163_172del (p.Lys55fs) rs1593883930
NM_181486.4(TBX5):c.166del (p.Val56fs) rs2136421561
NM_181486.4(TBX5):c.205G>T (p.Glu69Ter) rs104894377
NM_181486.4(TBX5):c.238G>A (p.Gly80Arg) rs104894381
NM_181486.4(TBX5):c.238_239delinsT (p.Ala79_Gly80insTer) rs1871830996
NM_181486.4(TBX5):c.239G>A (p.Gly80Glu) rs1871830806
NM_181486.4(TBX5):c.243-2A>G rs2136418310
NM_181486.4(TBX5):c.246_249del (p.Met83fs) rs1565941587
NM_181486.4(TBX5):c.246del (p.Met83fs) rs1871673161
NM_181486.4(TBX5):c.252T>A (p.Phe84Leu) rs2136418265
NM_181486.4(TBX5):c.261C>A (p.Tyr87Ter) rs767197919
NM_181486.4(TBX5):c.262A>T (p.Lys88Ter) rs2136418232
NM_181486.4(TBX5):c.278dup (p.Leu94fs) rs1555226420
NM_181486.4(TBX5):c.295A>T (p.Lys99Ter) rs1565941529
NM_181486.4(TBX5):c.336del (p.His112fs)
NM_181486.4(TBX5):c.337A>T (p.Arg113Ter) rs1871662633
NM_181486.4(TBX5):c.341dup (p.Tyr114Ter) rs2136418056
NM_181486.4(TBX5):c.342C>A (p.Tyr114Ter) rs1565941422
NM_181486.4(TBX5):c.353A>G (p.Asp118Gly)
NM_181486.4(TBX5):c.362+1G>A rs1871659583
NM_181486.4(TBX5):c.362+2T>C rs1593881162
NM_181486.4(TBX5):c.383_386dup (p.Met131fs) rs2136416963
NM_181486.4(TBX5):c.390del (p.Met131fs) rs1565941046
NM_181486.4(TBX5):c.400del (p.Arg134fs) rs1408227928
NM_181486.4(TBX5):c.408C>A (p.Tyr136Ter) rs104894379
NM_181486.4(TBX5):c.416del (p.Pro139fs) rs1593880204
NM_181486.4(TBX5):c.426del (p.Ala143fs)
NM_181486.4(TBX5):c.432dup (p.Gly145fs) rs1555226322
NM_181486.4(TBX5):c.443G>A (p.Trp148Ter) rs1060503154
NM_181486.4(TBX5):c.444G>A (p.Trp148Ter) rs1555226315
NM_181486.4(TBX5):c.456del (p.Val153fs) rs1057520136
NM_181486.4(TBX5):c.457dup (p.Val153fs)
NM_181486.4(TBX5):c.484A>G (p.Asn162Asp) rs1871568678
NM_181486.4(TBX5):c.496del (p.Asp166fs)
NM_181486.4(TBX5):c.500del (p.Pro167fs)
NM_181486.4(TBX5):c.511-1G>C rs2136411098
NM_181486.4(TBX5):c.529del (p.His177fs)
NM_181486.4(TBX5):c.537C>A (p.Tyr179Ter) rs1565939337
NM_181486.4(TBX5):c.538del (p.Gln180fs) rs1593876058
NM_181486.4(TBX5):c.559_572dup (p.Asn191fs) rs1565939303
NM_181486.4(TBX5):c.587C>A (p.Ser196Ter) rs886041247
NM_181486.4(TBX5):c.593del (p.Asn198fs) rs1565939215
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
NM_181486.4(TBX5):c.594dup (p.Thr199fs)
NM_181486.4(TBX5):c.595dup (p.Thr199fs) rs1555226005
NM_181486.4(TBX5):c.611dup (p.His204fs) rs863223786
NM_181486.4(TBX5):c.629_632dup (p.Ile212fs) rs1555225989
NM_181486.4(TBX5):c.635_636del (p.Ile212fs)
NM_181486.4(TBX5):c.652C>T (p.Gln218Ter) rs2136410724
NM_181486.4(TBX5):c.663+1G>A rs1871328488
NM_181486.4(TBX5):c.668C>T (p.Thr223Met) rs1555225344
NM_181486.4(TBX5):c.672del (p.Gln224fs)
NM_181486.4(TBX5):c.674T>G (p.Leu225Ter) rs1565935432
NM_181486.4(TBX5):c.680_683del (p.Ile227fs) rs1565935410
NM_181486.4(TBX5):c.691C>T (p.Pro231Ser) rs2136397905
NM_181486.4(TBX5):c.694T>C (p.Phe232Leu)
NM_181486.4(TBX5):c.69del (p.Cys24fs) rs1872004016
NM_181486.4(TBX5):c.703G>T (p.Gly235Ter) rs1565935397
NM_181486.4(TBX5):c.709C>T (p.Arg237Trp) rs104894382
NM_181486.4(TBX5):c.713dup (p.Ser239fs)
NM_181486.4(TBX5):c.727del (p.Glu243fs) rs1870762150
NM_181486.4(TBX5):c.728_729del (p.Glu243fs)
NM_181486.4(TBX5):c.73_74insT (p.Asp25fs) rs1565943328
NM_181486.4(TBX5):c.755+1G>A
NM_181486.4(TBX5):c.755+1G>T rs2136397746
NM_181486.4(TBX5):c.756-2A>G rs1869545659
NM_181486.4(TBX5):c.760G>T (p.Glu254Ter) rs2136373802
NM_181486.4(TBX5):c.765T>A (p.Tyr255Ter) rs2136373795
NM_181486.4(TBX5):c.813_814del (p.His271fs) rs1869539814
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter) rs863223788
NM_181486.4(TBX5):c.845C>T (p.Ser282Phe) rs1565927794
NM_181486.4(TBX5):c.853_865del (p.Ser285fs)
NM_181486.4(TBX5):c.868C>T (p.Gln290Ter) rs1565927747
NM_181486.4(TBX5):c.879T>A (p.Cys293Ter) rs1565927740
NM_181486.4(TBX5):c.884del (p.Asn295fs)
NM_181486.4(TBX5):c.905del (p.Gln302fs) rs1869529188
NM_181486.4(TBX5):c.920del (p.Pro307fs)
NM_181486.4(TBX5):c.924del (p.Asn309fs)
NM_181486.4(TBX5):c.926_927del (p.Asn309fs) rs1593847163
NM_181486.4(TBX5):c.933C>G (p.Tyr311Ter) rs1565927664
NM_181486.4(TBX5):c.943C>T (p.Gln315Ter) rs1565927645
NM_181486.4(TBX5):c.958del (p.Ile320fs) rs878853750
NM_181486.4(TBX5):c.978del (p.Glu328fs)
NM_181486.4(TBX5):c.982+1G>A rs2136373207
NM_181486.4(TBX5):c.982+2T>G rs2136373205
NM_181523.3(PIK3R1):c.1690A>G (p.Asn564Asp) rs1057519841
NM_181703.4(GJA5):c.145C>T (p.Gln49Ter) rs387906612
NM_181703.4(GJA5):c.223A>T (p.Ile75Phe) rs587777304
NM_181703.4(GJA5):c.253G>A (p.Val85Ile) rs387906613
NM_181703.4(GJA5):c.661C>A (p.Leu221Ile) rs387906614
NM_181703.4(GJA5):c.685C>A (p.Leu229Met) rs387906615
NM_181784.3(SPRED2):c.1142_1143del (p.Leu381fs) rs2104102138
NM_181784.3(SPRED2):c.299T>C (p.Leu100Pro) rs2104216988
NM_182914.3(SYNE2):c.2970C>A (p.Tyr990Ter) rs1323140900
NM_182918.4(ERG):c.1388del (p.Asn463fs)
NM_182918.4(ERG):c.543del (p.Ser182fs)
NM_182918.4(ERG):c.671_672del (p.Thr224fs)
NM_182925.5(FLT4):c.2569G>A (p.Gly857Arg) rs267606818
NM_182925.5(FLT4):c.2632G>A (p.Val878Met) rs121909654
NM_182925.5(FLT4):c.2771T>A (p.Met924Lys)
NM_182925.5(FLT4):c.3104A>G (p.His1035Arg) rs121909653
NM_182925.5(FLT4):c.3109G>A (p.Asp1037Asn)
NM_182925.5(FLT4):c.3122G>C (p.Arg1041Pro) rs121909650
NM_182925.5(FLT4):c.3131T>C (p.Leu1044Pro) rs121909651
NM_182925.5(FLT4):c.3257T>C (p.Ile1086Thr) rs121909655
NM_182925.5(FLT4):c.3316G>A (p.Glu1106Lys) rs121909656
NM_182925.5(FLT4):c.3320TCT[1] (p.Phe1108del) rs587776833
NM_182925.5(FLT4):c.3332G>A (p.Gly1111Glu)
NM_182925.5(FLT4):c.3341C>T (p.Pro1114Leu) rs121909652
NM_182961.4(SYNE1):c.10414C>T (p.Arg3472Ter) rs2096893099
NM_182961.4(SYNE1):c.10492C>T (p.Gln3498Ter)
NM_182961.4(SYNE1):c.1171A>T (p.Arg391Ter)
NM_182961.4(SYNE1):c.1219_1220del (p.Leu407fs) rs1564367104
NM_182961.4(SYNE1):c.12584del (p.Lys4195fs) rs886042380
NM_182961.4(SYNE1):c.12596T>A (p.Leu4199Ter)
NM_182961.4(SYNE1):c.12891_12901del (p.Asp4297fs)
NM_182961.4(SYNE1):c.13021_13022del (p.Thr4341fs)
NM_182961.4(SYNE1):c.14278del (p.His4760fs) rs2153970781
NM_182961.4(SYNE1):c.14290C>T (p.Arg4764Ter)
NM_182961.4(SYNE1):c.14673del (p.Glu4892fs)
NM_182961.4(SYNE1):c.15304C>T (p.Gln5102Ter) rs1270730854
NM_182961.4(SYNE1):c.15567G>A (p.Trp5189Ter) rs1554451078
NM_182961.4(SYNE1):c.15586C>T (p.Arg5196Ter)
NM_182961.4(SYNE1):c.15681_15684del (p.Asp5228fs) rs1291249200
NM_182961.4(SYNE1):c.15973C>T (p.Arg5325Ter) rs781354327
NM_182961.4(SYNE1):c.16111C>T (p.Arg5371Ter) rs772587027
NM_182961.4(SYNE1):c.16390-2A>C rs759460806
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.16815_16821dup (p.Glu5608fs) rs886043923
NM_182961.4(SYNE1):c.16840G>T (p.Glu5614Ter) rs777656140
NM_182961.4(SYNE1):c.16882C>T (p.Gln5628Ter) rs2153836962
NM_182961.4(SYNE1):c.17215C>T (p.Gln5739Ter) rs746328978
NM_182961.4(SYNE1):c.17284G>T (p.Glu5762Ter)
NM_182961.4(SYNE1):c.17373C>A (p.Tyr5791Ter)
NM_182961.4(SYNE1):c.17628_17643del (p.Pro5877fs) rs2153809530
NM_182961.4(SYNE1):c.17713G>T (p.Glu5905Ter)
NM_182961.4(SYNE1):c.17801del (p.Thr5934fs)
NM_182961.4(SYNE1):c.18141_18144del (p.Thr6048fs) rs2153732048
NM_182961.4(SYNE1):c.18431C>G (p.Ser6144Ter) rs2153709458
NM_182961.4(SYNE1):c.18682C>T (p.Gln6228Ter) rs910956017
NM_182961.4(SYNE1):c.18940C>T (p.Gln6314Ter)
NM_182961.4(SYNE1):c.18948dup (p.Leu6317fs)
NM_182961.4(SYNE1):c.19423C>T (p.Arg6475Ter) rs1258745040
NM_182961.4(SYNE1):c.1942C>T (p.Arg648Ter)
NM_182961.4(SYNE1):c.19444del (p.Arg6482fs) rs2153619687
NM_182961.4(SYNE1):c.19899C>G (p.Tyr6633Ter) rs1057520134
NM_182961.4(SYNE1):c.20006dup (p.Ala6670fs) rs1385280819
NM_182961.4(SYNE1):c.20072G>A (p.Trp6691Ter) rs766499430
NM_182961.4(SYNE1):c.20179del (p.Asp6727fs) rs2153537904
NM_182961.4(SYNE1):c.20196C>G (p.Tyr6732Ter)
NM_182961.4(SYNE1):c.20296G>T (p.Glu6766Ter)
NM_182961.4(SYNE1):c.21072G>A (p.Trp7024Ter)
NM_182961.4(SYNE1):c.21781C>T (p.Arg7261Ter) rs138032057
NM_182961.4(SYNE1):c.21819del (p.Asp7273fs)
NM_182961.4(SYNE1):c.225+1del rs2154353746
NM_182961.4(SYNE1):c.23461-1G>A rs1586909309
NM_182961.4(SYNE1):c.24001_24002del (p.Trp8001fs)
NM_182961.4(SYNE1):c.24118A>T (p.Lys8040Ter)
NM_182961.4(SYNE1):c.24221C>G (p.Ser8074Ter) rs1586296730
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His) rs119103246
NM_182961.4(SYNE1):c.24537del (p.Leu8180fs)
NM_182961.4(SYNE1):c.24585C>A (p.Tyr8195Ter)
NM_182961.4(SYNE1):c.24977-13_24996del
NM_182961.4(SYNE1):c.25258C>T (p.Arg8420Ter)
NM_182961.4(SYNE1):c.25359G>A (p.Trp8453Ter)
NM_182961.4(SYNE1):c.2536C>T (p.Gln846Ter) rs2098713648
NM_182961.4(SYNE1):c.25816C>T (p.Gln8606Ter)
NM_182961.4(SYNE1):c.2992C>T (p.Gln998Ter) rs2154254291
NM_182961.4(SYNE1):c.3173_3176del (p.Ile1058fs)
NM_182961.4(SYNE1):c.3499_3500del (p.Ala1166_Val1167insTer) rs1554721227
NM_182961.4(SYNE1):c.3641_3651del (p.Phe1214fs)
NM_182961.4(SYNE1):c.4044_4047del (p.Asn1348fs) rs2098527248
NM_182961.4(SYNE1):c.4327del (p.Met1443fs)
NM_182961.4(SYNE1):c.4372_4373del (p.Leu1458fs) rs794727577
NM_182961.4(SYNE1):c.4513G>T (p.Glu1505Ter) rs757744079
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter) rs988770583
NM_182961.4(SYNE1):c.4975_4976+8del rs1592490234
NM_182961.4(SYNE1):c.5237G>A (p.Trp1746Ter) rs2154194664
NM_182961.4(SYNE1):c.551T>A (p.Leu184Ter) rs1466752822
NM_182961.4(SYNE1):c.5525dup (p.Gln1843fs) rs2154182611
NM_182961.4(SYNE1):c.5639_5652del (p.Leu1880fs)
NM_182961.4(SYNE1):c.5895del (p.Leu1966fs) rs2098158268
NM_182961.4(SYNE1):c.6376del (p.Ser2126fs) rs2154170060
NM_182961.4(SYNE1):c.639del (p.His214fs) rs1412791793
NM_182961.4(SYNE1):c.6628G>T (p.Glu2210Ter) rs1417491327
NM_182961.4(SYNE1):c.6868G>T (p.Glu2290Ter) rs2154151091
NM_182961.4(SYNE1):c.706C>T (p.Arg236Ter) rs2154331501
NM_182961.4(SYNE1):c.7402C>T (p.Gln2468Ter)
NM_182961.4(SYNE1):c.7691T>A (p.Leu2564Ter)
NM_182961.4(SYNE1):c.8068C>T (p.Gln2690Ter)
NM_182961.4(SYNE1):c.8287C>T (p.Gln2763Ter) rs946657984
NM_182961.4(SYNE1):c.8636del (p.Lys2879fs) rs2097516516
NM_182961.4(SYNE1):c.8789G>A (p.Trp2930Ter) rs2154115529
NM_182961.4(SYNE1):c.8885del (p.Val2962fs) rs750544827
NM_182961.4(SYNE1):c.9319del (p.Ile3107fs)
NM_194318.4(B3GLCT):c.1015C>T (p.Gln339Ter)
NM_194318.4(B3GLCT):c.101_104del (p.Lys34fs) rs759505367
NM_194318.4(B3GLCT):c.1167C>G (p.Tyr389Ter) rs1875117878
NM_194318.4(B3GLCT):c.1178G>A (p.Gly393Glu) rs267606675
NM_194318.4(B3GLCT):c.230dup (p.Leu77fs) rs1593258510
NM_194454.3(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169
NM_198056.2(SCN5A):c.[1535C>T;1673A>G]
NM_198056.2(SCN5A):c.[3694C>T;4859C>T]
NM_198282.4(STING1):c.439G>C (p.Val147Leu) rs587777611
NM_198282.4(STING1):c.457T>A (p.Phe153Ile) rs2152094234
NM_198282.4(STING1):c.461A>G (p.Asn154Ser) rs587777609
NM_198282.4(STING1):c.842G>A (p.Arg281Gln) rs1561482476
NM_198282.4(STING1):c.851G>C (p.Arg284Thr)
NM_201590.3(CACNB2):c.32C>T (p.Thr11Ile) rs587777742
NM_201596.3(CACNB2):c.1604C>T (p.Ser535Leu) rs121917812
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
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
NM_213607.3(CCDC103):c.568_569dup (p.Ser190fs) rs746242380
NOTCH1, PRO1797HIS
NOTCH3, ARG141CYS
NR_002196.1(H19):n.-7080_-1781del
PGM1, ARG521TER
SGCA, TYR134TER
Single allele
TTN:c.106668delA (p.Lys35556Argfs) rs587776772
arr[hg19]11p11.2(47339995x2,47343435_47375684x1,47387184x2)
m.10197G>A rs267606891
m.10663T>C rs1556423844
m.11696G>A rs200873900
m.11777C>A rs28384199
m.12338T>C rs201863060
m.12706T>C rs267606893
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.14487T>C rs199476109
m.14495A>G rs199476106
m.14568C>T rs397515506
m.14596A>T rs387906424
m.15150G>A rs207460000
m.15257G>A rs41518645
m.15498G>A rs207460003
m.15579A>G rs207460002
m.15812G>A rs200336777
m.3256C>T rs199474659
m.3271T>C rs199474658
m.3394T>C rs41460449
m.3635G>A rs397515507
m.3697G>A rs199476122
m.3733G>A rs199476125
m.3946G>A rs199476123
m.4136A>G rs199476121
m.4160T>C rs199476119
m.4171C>A rs28616230
m.4216T>C rs1599988
m.4284G>A rs121434468
m.4295A>G rs121434467
m.4300A>G rs121434470
m.4640C>A rs387906426
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.8528T>C rs387906422
m.9101T>C rs199476134
m.9438G>A rs267606611
m.9804G>A rs200613617
m.9997T>C rs121434475
nsv513807
t(4;20)(q22.1;p12.2)
t(6;9)(q23.3;p22.3)
t(8;9)(q13.1;p22.3)
t(9;15)(p13.3;q21.1)

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