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
|
|
|
NC_000001.10:g.(?_116269603)_(116269753_?)del
|
|
|
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)
|
|
|